MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.18, LOF (oe): 0.83, misssense (oe): 0.97, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000529984.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.159G>A
g.8103G>A

AA changes

W53* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		53	S	T	L	G	W	P	G	L	L	F	S	W	P	A	A	A	G	G	S	S	E	G	L	L
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGG ESTLGWPGLL FSWPAAAGGS
SEGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY
QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV
SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGG ESTLGWPGLL FS*

Position of stopcodon in wt / mu CDS

651 / 159

Position (AA) of stopcodon in wt / mu AA sequence

217 / 53

Position of stopcodon in wt / mu cDNA

886 / 394

Position of start ATG in wt / mu cDNA

236 / 236

Last intron/exon boundary

754

Theoretical NMD boundary in CDS

468

Length of CDS

651

Coding sequence (CDS) position

159

cDNA position

394

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_11_ENST00000488731

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.18, LOF (oe): 0.83, misssense (oe): 0.97, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000488731.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.159G>A
g.8103G>A

AA changes

W53* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		53	S	T	L	G	W	P	G	L	L	F	S	W	P	A	A	A	G	G	S	S	E	G	L	L
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGG ESTLGWPGLL FSWPAAAGGS
SEGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY
QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV
SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGG ESTLGWPGLL FS*

Position of stopcodon in wt / mu CDS

651 / 159

Position (AA) of stopcodon in wt / mu AA sequence

217 / 53

Position of stopcodon in wt / mu cDNA

677 / 185

Position of start ATG in wt / mu cDNA

27 / 27

Last intron/exon boundary

545

Theoretical NMD boundary in CDS

468

Length of CDS

651

Coding sequence (CDS) position

159

cDNA position

185

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_6_ENST00000456914

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000456914.7

Genbank transcript ID

NM_001048174 (exact from MANE), NM_001407091 (by similarity), NM_001407088 (by similarity), NM_001407089 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.464G>A
g.8103G>A

AA changes

AAE:	G155D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		155	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	155	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	all identical	246	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V
Mmulatta	all identical	169	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V
Fcatus	all identical	166	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	Q	K	V	V
Mmusculus	all identical	154	Q	L	W	S	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V
Ggallus	all identical	145	E	L	W	A	G	L	G	Y	Y	S	R	G	K	R	L	Q	E	A	A	R	K	V	V
Trubripes	all identical	129	Q	M	W	A	G	L	G	Y	Y	S	R	G	K	R	L	H
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	135	E	M	W	S	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	K	K	V	V

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRDRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Position of stopcodon in wt / mu CDS

1566 / 1566

Position (AA) of stopcodon in wt / mu AA sequence

522 / 522

Position of stopcodon in wt / mu cDNA

1644 / 1644

Position of start ATG in wt / mu cDNA

79 / 79

Last intron/exon boundary

1512

Theoretical NMD boundary in CDS

1383

Length of CDS

1566

Coding sequence (CDS) position

464

cDNA position

542

gDNA position

8103

Chromosomal position

45332791

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_3_ENST00000372104

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000372104.5

Genbank transcript ID

NM_001293195 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.464G>A
g.8103G>A

AA changes

AAE:	G155D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		155	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	155	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRDRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Position of stopcodon in wt / mu CDS

1566 / 1566

Position (AA) of stopcodon in wt / mu AA sequence

522 / 522

Position of stopcodon in wt / mu cDNA

1759 / 1759

Position of start ATG in wt / mu cDNA

194 / 194

Last intron/exon boundary

1627

Theoretical NMD boundary in CDS

1383

Length of CDS

1566

Coding sequence (CDS) position

464

cDNA position

657

gDNA position

8103

Chromosomal position

45332791

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_8_ENST00000355498

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000355498.6

Genbank transcript ID

NM_001407072 (by similarity), NM_001350651 (by similarity), NM_001293192 (by similarity), NM_001350650 (by similarity), NM_001048171 (by similarity), NM_001407070 (by similarity), NM_001407082 (by similarity), NM_001293196 (by similarity), NM_001407080 (by similarity), NM_001048173 (by similarity), NM_001407081 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.464G>A
g.8103G>A

AA changes

AAE:	G155D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		155	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	155	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRDRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Position of stopcodon in wt / mu CDS

1566 / 1566

Position (AA) of stopcodon in wt / mu AA sequence

522 / 522

Position of stopcodon in wt / mu cDNA

1712 / 1712

Position of start ATG in wt / mu cDNA

147 / 147

Last intron/exon boundary

1580

Theoretical NMD boundary in CDS

1383

Length of CDS

1566

Coding sequence (CDS) position

464

cDNA position

610

gDNA position

8103

Chromosomal position

45332791

Speed

0.03 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_4_ENST00000448481

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 93|7 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.05, LOF (oe): 0.85, misssense (oe): 0.91, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000448481.5

Genbank transcript ID

NM_001293191 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.497G>A
g.8103G>A

AA changes

AAE:	G166D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		166	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	166	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost
164	171	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL
QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML
QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL
GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL
VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL
LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL
EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL
QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML
QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRDRRLQ EGARKVVEEL
GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL
VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL
LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL
EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Position of stopcodon in wt / mu CDS

1599 / 1599

Position (AA) of stopcodon in wt / mu AA sequence

533 / 533

Position of stopcodon in wt / mu cDNA

1642 / 1642

Position of start ATG in wt / mu cDNA

44 / 44

Last intron/exon boundary

1510

Theoretical NMD boundary in CDS

1416

Length of CDS

1599

Coding sequence (CDS) position

497

cDNA position

540

gDNA position

8103

Chromosomal position

45332791

Speed

0.03 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_7_ENST00000354383

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 93|7 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000354383.10

Genbank transcript ID

NM_001407071 (by similarity), NM_001407079 (by similarity), NM_001048172 (by similarity), NM_001407078 (by similarity), NM_001407086 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.467G>A
g.8103G>A

AA changes

AAE:	G156D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		156	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	156	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost
156	160	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAG LARQPEEVVL QASVSSYHLF
RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN
YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET
LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ
QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP
DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI
LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS
HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG
SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAG LARQPEEVVL QASVSSYHLF
RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN
YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRDRRLQ EGARKVVEEL GGHMPRTAET
LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ
QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP
DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI
LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS
HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG
SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Position of stopcodon in wt / mu CDS

1569 / 1569

Position (AA) of stopcodon in wt / mu AA sequence

523 / 523

Position of stopcodon in wt / mu cDNA

1680 / 1680

Position of start ATG in wt / mu cDNA

112 / 112

Last intron/exon boundary

1548

Theoretical NMD boundary in CDS

1386

Length of CDS

1569

Coding sequence (CDS) position

467

cDNA position

578

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_15_ENST00000435155

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 93|7 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.09, LOF (oe): 0.84, misssense (oe): 0.87, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000435155.2

Genbank transcript ID

NM_001407077 (by similarity), NM_001407075 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.497G>A
g.8103G>A

AA changes

AAE:	G166D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		166	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	166	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost
164	171	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL
QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML
QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL
GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL
VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL
LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL
EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL
QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML
QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRDRRLQ EGARKVVEEL
GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL
VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL
LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL
EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Position of stopcodon in wt / mu CDS

1599 / 1599

Position (AA) of stopcodon in wt / mu AA sequence

533 / 533

Position of stopcodon in wt / mu cDNA

1750 / 1750

Position of start ATG in wt / mu cDNA

152 / 152

Last intron/exon boundary

1618

Theoretical NMD boundary in CDS

1416

Length of CDS

1599

Coding sequence (CDS) position

497

cDNA position

648

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_10_ENST00000372098

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.03, LOF (oe): 0.84, misssense (oe): 0.91, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000372098.7

Genbank transcript ID

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.539G>A
g.8103G>A

AA changes

AAE:	G180D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		180	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	180	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost
177	193	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG
APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL
DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG
RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL
CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS
RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE
LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT
AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS
LNSAAQ*

Mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG
APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL
DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRD
RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL
CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS
RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE
LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT
AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS
LNSAAQ*

Position of stopcodon in wt / mu CDS

1641 / 1641

Position (AA) of stopcodon in wt / mu AA sequence

547 / 547

Position of stopcodon in wt / mu cDNA

1775 / 1775

Position of start ATG in wt / mu cDNA

135 / 135

Last intron/exon boundary

1643

Theoretical NMD boundary in CDS

1458

Length of CDS

1641

Coding sequence (CDS) position

539

cDNA position

673

gDNA position

8103

Chromosomal position

45332791

Speed

0.03 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_16_ENST00000528013

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: simple_aae
Tree vote: 94|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.05, LOF (oe): 0.85, misssense (oe): 0.90, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000528013.6

Genbank transcript ID

NM_001407083 (by similarity), NM_001407085 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.506G>A
g.8103G>A

AA changes

AAE:	G169D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		169	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	169	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAC AGMIAECPGA PAGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAC AGMIAECPGA PAGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRDR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ*

Position of stopcodon in wt / mu CDS

1608 / 1608

Position (AA) of stopcodon in wt / mu AA sequence

536 / 536

Position of stopcodon in wt / mu cDNA

1662 / 1662

Position of start ATG in wt / mu cDNA

55 / 55

Last intron/exon boundary

1530

Theoretical NMD boundary in CDS

1425

Length of CDS

1608

Coding sequence (CDS) position

506

cDNA position

560

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_18_ENST00000372115

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.01, LOF (oe): 0.82, misssense (oe): 0.91, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000372115.7

Genbank transcript ID

NM_001407073 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.506G>A
g.8103G>A

AA changes

AAE:	G169D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		169	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	169	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost
164	171	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ*

Mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRDR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ*

Position of stopcodon in wt / mu CDS

1608 / 1608

Position (AA) of stopcodon in wt / mu AA sequence

536 / 536

Position of stopcodon in wt / mu cDNA

1824 / 1824

Position of start ATG in wt / mu cDNA

217 / 217

Last intron/exon boundary

1692

Theoretical NMD boundary in CDS

1425

Length of CDS

1608

Coding sequence (CDS) position

506

cDNA position

722

gDNA position

8103

Chromosomal position

45332791

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_20_ENST00000672818

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.03, LOF (oe): 0.84, misssense (oe): 0.91, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000672818.3

Genbank transcript ID

NM_001407069 (by similarity), NM_012222 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.539G>A
g.8103G>A

AA changes

AAE:	G180D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		180	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	180	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost
177	193	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG
APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL
DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG
RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL
CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS
RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE
LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT
AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS
LNSAAQ*

Mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG
APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL
DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRD
RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL
CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS
RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE
LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT
AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS
LNSAAQ*

Position of stopcodon in wt / mu CDS

1641 / 1641

Position (AA) of stopcodon in wt / mu AA sequence

547 / 547

Position of stopcodon in wt / mu cDNA

1827 / 1827

Position of start ATG in wt / mu cDNA

187 / 187

Last intron/exon boundary

1695

Theoretical NMD boundary in CDS

1458

Length of CDS

1641

Coding sequence (CDS) position

539

cDNA position

725

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_21_ENST00000372110

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 95|5 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.00, LOF (oe): 0.82, misssense (oe): 0.91, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000372110.7

Genbank transcript ID

NM_001293190 (by similarity)

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.509G>A
g.8103G>A

AA changes

AAE:	G170D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		170	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	170	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost
164	171	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDAGLARQPE
EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS
EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV
VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP
SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE
QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA
TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA
THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV
FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ*

Mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDAGLARQPE
EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS
EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRD RRLQEGARKV
VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP
SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE
QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA
TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA
THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV
FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ*

Position of stopcodon in wt / mu CDS

1611 / 1611

Position (AA) of stopcodon in wt / mu AA sequence

537 / 537

Position of stopcodon in wt / mu cDNA

1745 / 1745

Position of start ATG in wt / mu cDNA

135 / 135

Last intron/exon boundary

1613

Theoretical NMD boundary in CDS

1428

Length of CDS

1611

Coding sequence (CDS) position

509

cDNA position

643

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_9_ENST00000412971

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.15, LOF (oe): 0.83, misssense (oe): 0.96, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000412971.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.80G>A
g.8103G>A

AA changes

AAE:	G27D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		27	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	27	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MTPLVSRLSR LWEVNQLWAG LGYYSRGRRL QEGARKVVEE LGGHMPRTAE TLQQLLPGVG
RYTAGAIASI AFGQATGVVD GNVARVLCRV RAIGADPSST LVSQQLWGLA QQLVDPARPG
DFNQAAMELG ATVCTPQRPL CSQCPVESLC RARQRVEQEQ LLASGSLSGS PDVEECAPNT
GQCHLCLPPS EPWDQTLGVV NFPRKASRKP PREESSATCV LEQPGALGAQ ILLVQRPNSG
LLAGLWEFPS VTWEPSEQLQ RKALLQELQR WAGPLPATHL RHLGEVVHTF SHIKLTYQVY
GLALEGQTPV TTVPPGARWL TQEEFHTAAV STAMKKVFRV YQGQQPGTCM GSKRSQVSSP
CSRKKPRMGQ QVLDNFFRSH ISTDAHSLNS AAQ*

Mutated AA sequence

MTPLVSRLSR LWEVNQLWAG LGYYSRDRRL QEGARKVVEE LGGHMPRTAE TLQQLLPGVG
RYTAGAIASI AFGQATGVVD GNVARVLCRV RAIGADPSST LVSQQLWGLA QQLVDPARPG
DFNQAAMELG ATVCTPQRPL CSQCPVESLC RARQRVEQEQ LLASGSLSGS PDVEECAPNT
GQCHLCLPPS EPWDQTLGVV NFPRKASRKP PREESSATCV LEQPGALGAQ ILLVQRPNSG
LLAGLWEFPS VTWEPSEQLQ RKALLQELQR WAGPLPATHL RHLGEVVHTF SHIKLTYQVY
GLALEGQTPV TTVPPGARWL TQEEFHTAAV STAMKKVFRV YQGQQPGTCM GSKRSQVSSP
CSRKKPRMGQ QVLDNFFRSH ISTDAHSLNS AAQ*

Position of stopcodon in wt / mu CDS

1182 / 1182

Position (AA) of stopcodon in wt / mu AA sequence

394 / 394

Position of stopcodon in wt / mu cDNA

1309 / 1309

Position of start ATG in wt / mu cDNA

128 / 128

Last intron/exon boundary

1177

Theoretical NMD boundary in CDS

999

Length of CDS

1182

Coding sequence (CDS) position

80

cDNA position

207

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_14_ENST00000672314

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.98, LOF (oe): 0.79, misssense (oe): 0.88, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000672314.2

Genbank transcript ID

UniProt / AlphaMissense peptide

MUTYH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.464G>A
g.8103G>A

AA changes

AAE:	G155D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		155	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	155	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	546	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRDRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Position of stopcodon in wt / mu CDS

1566 / 1566

Position (AA) of stopcodon in wt / mu AA sequence

522 / 522

Position of stopcodon in wt / mu cDNA

2696 / 2696

Position of start ATG in wt / mu cDNA

1131 / 1131

Last intron/exon boundary

2564

Theoretical NMD boundary in CDS

1383

Length of CDS

1566

Coding sequence (CDS) position

464

cDNA position

1594

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_17_ENST00000529892

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.19, LOF (oe): 0.83, misssense (oe): 0.96, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000529892.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.506G>A
g.8103G>A

AA changes

AAE:	G169D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		169	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	169	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRDR RLQEGARKVV
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ
EQLLASGSLS GSPDVEECGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR
HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY
QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ*

Position of stopcodon in wt / mu CDS

1419 / 1419

Position (AA) of stopcodon in wt / mu AA sequence

473 / 473

Position of stopcodon in wt / mu cDNA

1580 / 1580

Position of start ATG in wt / mu cDNA

162 / 162

Last intron/exon boundary

1448

Theoretical NMD boundary in CDS

1236

Length of CDS

1419

Coding sequence (CDS) position

506

cDNA position

667

gDNA position

8103

Chromosomal position

45332791

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_2_ENST00000713750

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: simple_aae
Tree vote: 98|2 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000713750.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.464G>A
g.8103G>A

AA changes

AAE:	G155D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		155	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	155	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Mutated AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRDRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*

Position of stopcodon in wt / mu CDS

1566 / 1566

Position (AA) of stopcodon in wt / mu AA sequence

522 / 522

Position of stopcodon in wt / mu cDNA

1715 / 1715

Position of start ATG in wt / mu cDNA

150 / 150

Last intron/exon boundary

1583

Theoretical NMD boundary in CDS

1383

Length of CDS

1566

Coding sequence (CDS) position

464

cDNA position

613

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_5_ENST00000483127

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: simple_aae
Tree vote: 98|2 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.20, LOF (oe): 0.66, misssense (oe): 0.82, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000483127.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.482G>A
g.8103G>A

AA changes

AAE:	G161D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		161	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	161	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDGLARQP EEVVLQASVS
SYHLFRDVAE VTAFRGSLLS WYDQEKRDLP WRRRAEDEMD LDRRAYAVWV SEVMLQQTQV
ATVINYYTGW MQKWPTLQDL ASASLEEVNQ LWAGLGYYSR GRRLQEGARK VVEELGGHMP
RTAETLQQLL PGVGRYTAGA IASIAFGQAT GVVDGNVARV LCRVRAIGAD PSSTLVSQQL
WGLAQQLVDP ARPGDFNQAA MELGATVCTP QRPLCSQCPV ESLCRARQRV EQEQLLASGS
LSGSPDVEEC APNTGQCHLC LPPSEPWDQT LGVVNFPRKA SRKPPREESS ATCVLEQPGA
LGAQILLVQR PNSGLLAGLW EFPSVTWEPS EQLQRKALLQ ELQRWAGPLP ATHLRHLGEV
VHTFSHIKLT YQVYGLALEG QTPVTTVPPG ARWLTQEEFH TAAVSTAMKK VFRVYQGQQP
GTCMGSKRSQ VSSPCSRKKP RMGQQVLDNF FRSHISTDAH SLNSAAQ*

Mutated AA sequence

MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDGLARQP EEVVLQASVS
SYHLFRDVAE VTAFRGSLLS WYDQEKRDLP WRRRAEDEMD LDRRAYAVWV SEVMLQQTQV
ATVINYYTGW MQKWPTLQDL ASASLEEVNQ LWAGLGYYSR DRRLQEGARK VVEELGGHMP
RTAETLQQLL PGVGRYTAGA IASIAFGQAT GVVDGNVARV LCRVRAIGAD PSSTLVSQQL
WGLAQQLVDP ARPGDFNQAA MELGATVCTP QRPLCSQCPV ESLCRARQRV EQEQLLASGS
LSGSPDVEEC APNTGQCHLC LPPSEPWDQT LGVVNFPRKA SRKPPREESS ATCVLEQPGA
LGAQILLVQR PNSGLLAGLW EFPSVTWEPS EQLQRKALLQ ELQRWAGPLP ATHLRHLGEV
VHTFSHIKLT YQVYGLALEG QTPVTTVPPG ARWLTQEEFH TAAVSTAMKK VFRVYQGQQP
GTCMGSKRSQ VSSPCSRKKP RMGQQVLDNF FRSHISTDAH SLNSAAQ*

Position of stopcodon in wt / mu CDS

1584 / 1584

Position (AA) of stopcodon in wt / mu AA sequence

528 / 528

Position of stopcodon in wt / mu cDNA

2090 / 2090

Position of start ATG in wt / mu cDNA

507 / 507

Last intron/exon boundary

1958

Theoretical NMD boundary in CDS

1401

Length of CDS

1584

Coding sequence (CDS) position

482

cDNA position

988

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_12_ENST00000713751

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: simple_aae
Tree vote: 98|2 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000713751.1

Genbank transcript ID

NM_001407087 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.485G>A
g.8103G>A

AA changes

AAE:	G162D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		162	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	162	Q	L	W	A	G	L	G	Y	Y	S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDAGLARQ PEEVVLQASV
SSYHLFRDVA EVTAFRGSLL SWYDQEKRDL PWRRRAEDEM DLDRRAYAVW VSEVMLQQTQ
VATVINYYTG WMQKWPTLQD LASASLEEVN QLWAGLGYYS RGRRLQEGAR KVVEELGGHM
PRTAETLQQL LPGVGRYTAG AIASIAFGQA TGVVDGNVAR VLCRVRAIGA DPSSTLVSQQ
LWGLAQQLVD PARPGDFNQA AMELGATVCT PQRPLCSQCP VESLCRARQR VEQEQLLASG
SLSGSPDVEE CAPNTGQCHL CLPPSEPWDQ TLGVVNFPRK ASRKPPREES SATCVLEQPG
ALGAQILLVQ RPNSGLLAGL WEFPSVTWEP SEQLQRKALL QELQRWAGPL PATHLRHLGE
VVHTFSHIKL TYQVYGLALE GQTPVTTVPP GARWLTQEEF HTAAVSTAMK KVFRVYQGQQ
PGTCMGSKRS QVSSPCSRKK PRMGQQVLDN FFRSHISTDA HSLNSAAQ*

Mutated AA sequence

MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDAGLARQ PEEVVLQASV
SSYHLFRDVA EVTAFRGSLL SWYDQEKRDL PWRRRAEDEM DLDRRAYAVW VSEVMLQQTQ
VATVINYYTG WMQKWPTLQD LASASLEEVN QLWAGLGYYS RDRRLQEGAR KVVEELGGHM
PRTAETLQQL LPGVGRYTAG AIASIAFGQA TGVVDGNVAR VLCRVRAIGA DPSSTLVSQQ
LWGLAQQLVD PARPGDFNQA AMELGATVCT PQRPLCSQCP VESLCRARQR VEQEQLLASG
SLSGSPDVEE CAPNTGQCHL CLPPSEPWDQ TLGVVNFPRK ASRKPPREES SATCVLEQPG
ALGAQILLVQ RPNSGLLAGL WEFPSVTWEP SEQLQRKALL QELQRWAGPL PATHLRHLGE
VVHTFSHIKL TYQVYGLALE GQTPVTTVPP GARWLTQEEF HTAAVSTAMK KVFRVYQGQQ
PGTCMGSKRS QVSSPCSRKK PRMGQQVLDN FFRSHISTDA HSLNSAAQ*

Position of stopcodon in wt / mu CDS

1587 / 1587

Position (AA) of stopcodon in wt / mu AA sequence

529 / 529

Position of stopcodon in wt / mu cDNA

1880 / 1880

Position of start ATG in wt / mu cDNA

294 / 294

Last intron/exon boundary

1748

Theoretical NMD boundary in CDS

1404

Length of CDS

1587

Coding sequence (CDS) position

485

cDNA position

778

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_19_ENST00000710952

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: simple_aae
Tree vote: 98|2 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000710952.2

Genbank transcript ID

NM_001128425 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.548G>A
g.8103G>A

AA changes

AAE:	G183D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		183	Q	L	W	A	G	L	G	Y	Y	S	R	G	R	R	L	Q	E	G	A	R	K	V	V	E
mutated	not conserved	183										S	R	D	R	R	L	Q	E	G	A	R	K	V	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered cDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Wildtype AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDACAGMIAE
CPGAPAGLAR QPEEVVLQAS VSSYHLFRDV AEVTAFRGSL LSWYDQEKRD LPWRRRAEDE
MDLDRRAYAV WVSEVMLQQT QVATVINYYT GWMQKWPTLQ DLASASLEEV NQLWAGLGYY
SRGRRLQEGA RKVVEELGGH MPRTAETLQQ LLPGVGRYTA GAIASIAFGQ ATGVVDGNVA
RVLCRVRAIG ADPSSTLVSQ QLWGLAQQLV DPARPGDFNQ AAMELGATVC TPQRPLCSQC
PVESLCRARQ RVEQEQLLAS GSLSGSPDVE ECAPNTGQCH LCLPPSEPWD QTLGVVNFPR
KASRKPPREE SSATCVLEQP GALGAQILLV QRPNSGLLAG LWEFPSVTWE PSEQLQRKAL
LQELQRWAGP LPATHLRHLG EVVHTFSHIK LTYQVYGLAL EGQTPVTTVP PGARWLTQEE
FHTAAVSTAM KKVFRVYQGQ QPGTCMGSKR SQVSSPCSRK KPRMGQQVLD NFFRSHISTD
AHSLNSAAQ*

Mutated AA sequence

MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDACAGMIAE
CPGAPAGLAR QPEEVVLQAS VSSYHLFRDV AEVTAFRGSL LSWYDQEKRD LPWRRRAEDE
MDLDRRAYAV WVSEVMLQQT QVATVINYYT GWMQKWPTLQ DLASASLEEV NQLWAGLGYY
SRDRRLQEGA RKVVEELGGH MPRTAETLQQ LLPGVGRYTA GAIASIAFGQ ATGVVDGNVA
RVLCRVRAIG ADPSSTLVSQ QLWGLAQQLV DPARPGDFNQ AAMELGATVC TPQRPLCSQC
PVESLCRARQ RVEQEQLLAS GSLSGSPDVE ECAPNTGQCH LCLPPSEPWD QTLGVVNFPR
KASRKPPREE SSATCVLEQP GALGAQILLV QRPNSGLLAG LWEFPSVTWE PSEQLQRKAL
LQELQRWAGP LPATHLRHLG EVVHTFSHIK LTYQVYGLAL EGQTPVTTVP PGARWLTQEE
FHTAAVSTAM KKVFRVYQGQ QPGTCMGSKR SQVSSPCSRK KPRMGQQVLD NFFRSHISTD
AHSLNSAAQ*

Position of stopcodon in wt / mu CDS

1650 / 1650

Position (AA) of stopcodon in wt / mu AA sequence

550 / 550

Position of stopcodon in wt / mu cDNA

1836 / 1836

Position of start ATG in wt / mu cDNA

187 / 187

Last intron/exon boundary

1704

Theoretical NMD boundary in CDS

1467

Length of CDS

1650

Coding sequence (CDS) position

548

cDNA position

734

gDNA position

8103

Chromosomal position

45332791

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

1:45332791C>T_13_ENST00000531105

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 141595 (pathogenic)

Model: without_aae
Tree vote: 194|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:45332791C>T (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.52, LOF (oe): 0.74, misssense (oe): 0.84, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000531105.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.115+1600G>A
g.8103G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Familial adenomatous polyposis 2
Colon cancer
Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

dbSNP ID	rs587781864
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	25	25

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.07	0.976
	5.465	1
(flanking)	7.155	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAG

Altered gDNA sequence snippet

CCTGGGCTACTATTCTCGTGACCGGCGGCTGCAGGAGGGAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGF QKVPGVLSVQ SEKAPHGPAS
PG*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

195 / 195

Last intron/exon boundary

309

Theoretical NMD boundary in CDS

64

Length of CDS

189

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

8103

Chromosomal position

45332791

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project