MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000526095
Querying Taster for transcript #2: ENST00000335475
Querying Taster for transcript #3: ENST00000155840
Querying Taster for transcript #4: ENST00000646564
Querying Taster for transcript #5: ENST00000713725
Querying Taster for transcript #6: ENST00000496887
MT speed 0.12 s - this script 2.489124 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000713725	KCNQ1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000646564	KCNQ1	Benign	1\|199	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000526095	KCNQ1	Benign	2\|198	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000335475	KCNQ1	Benign	3\|197	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000155840(MANE Select)	KCNQ1	Benign	8\|192	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000496887	KCNQ1	Benign	18\|182	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

11:2835964A>C_5_ENST00000713725

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr11:2835964A>C (GRCh38)

Gene symbol

KCNQ1

Gene constraints

no data

Ensembl transcript ID

ENST00000713725.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1654-11803A>C
g.391311A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2237895
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	10273	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.413	0
	-3.035	0
(flanking)	-0.001	0.001

?

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

11

Strand

1

Original gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCAGGGGTCGGGGACAGGTGGGA

Altered gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCCGGGGTCGGGGACAGGTGGGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG
PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW
KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWME IVLVVFFGTE YVVRLWSAGC
RSKYVGLWGR LRFARKPISI IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH
VDRQGGTWRL LGSVVFIHRQ VTVTTIGYGD KVPQTWVGKT IASCFSVFAI SFFALPAGIL
GSGFALKVQQ KQRQKHFNRQ IPAAASLIQT AWRCYAAENP DSSTWKIYIR KAPRSHTLLS
PSPKPKKSVV VKKKKFKLDK DNGVTPGEKM LTVPHITCDP PEERRLDHFS VDGYDSSVRK
SPTLLEVSMP HFMRTNSFAE DLDLEGETLL TPITHISQLR EHHRATIKVI RRMQYFVAKK
KFQQARKPYD VRDVIEQYSQ GHLNLMVRIK ELQRRLDQSI GKPSLFISVS EKSKDRGSNT
IGARLNRVED KVTQLDQRLA LITDMLHQLL SLHGGSTPGS GGPPREGGAH ITQPCGSGGS
VDPELFLPSN TLPTYEQLTV PRRGPDEGS*

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

206 / 206

Last intron/exon boundary

1858

Theoretical NMD boundary in CDS

1602

Length of CDS

1890

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

391311

Chromosomal position

2835964

Speed

0.02 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

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MutationT@ster 2025

Variant:

11:2835964A>C_4_ENST00000646564

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr11:2835964A>C (GRCh38)

Gene symbol

KCNQ1

Gene constraints

LOEUF: 0.84, LOF (oe): 0.60, misssense (oe): 0.81, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000646564.2

Genbank transcript ID

NM_001406838 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1255-3752A>C
g.391311A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2237895
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	10273	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.413	0
	-3.035	0
(flanking)	-0.001	0.001

?

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

11

Strand

1

Original gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCAGGGGTCGGGGACAGGTGGGA

Altered gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCCGGGGTCGGGGACAGGTGGGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG
PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW
KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWMV TVTTIGYGDK VPQTWVGKTI
ASCFSVFAIS FFALPATAWR CYAAENPDSS TWKIYIRKAP RSHTLLSPSP KPKKSVVVKK
KKFKLDKDNG VTPGEKMLTV PHITCDPPEE RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM
RTNSFAEDLD LEGETLLTPI THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD
VIEQYSQGHL NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKST
KKRPSPGS*

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

92 / 92

Last intron/exon boundary

1345

Theoretical NMD boundary in CDS

1203

Length of CDS

1287

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

391311

Chromosomal position

2835964

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

11:2835964A>C_1_ENST00000526095

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 2|198 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr11:2835964A>C (GRCh38)

Gene symbol

KCNQ1

Gene constraints

LOEUF: 1.93, LOF (oe): 1.48, misssense (oe): 1.20, synonymous (oe): 1.45 ? (gnomAD)

Ensembl transcript ID

ENST00000526095.2

Genbank transcript ID

NM_001406839 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.199-11803A>C
g.391311A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2237895
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	10273	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.413	0
	-3.035	0
(flanking)	-0.001	0.001

?

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

11

Strand

1

Original gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCAGGGGTCGGGGACAGGTGGGA

Altered gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCCGGGGTCGGGGACAGGTGGGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGLHSWQCGQ LRQPPRALRG QRWRAWSRME PRSPAAAMPG HRTTPEKSKD RGSNTIGARL
NRVEDKVTQL DQRLALITDM LHQLLSLHGG STPGSGGPPR EGGAHITQPC GSGGSVDPEL
FLPSNTLPTY EQLTVPRRGP DEGS*

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

104 / 104

Last intron/exon boundary

301

Theoretical NMD boundary in CDS

147

Length of CDS

435

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

391311

Chromosomal position

2835964

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

11:2835964A>C_2_ENST00000335475

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 3|197 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr11:2835964A>C (GRCh38)

Gene symbol

KCNQ1

Gene constraints

LOEUF: 0.94, LOF (oe): 0.74, misssense (oe): 0.83, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000335475.6

Genbank transcript ID

NM_181798 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1414-11803A>C
g.391311A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2237895
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	10273	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.413	0
	-3.035	0
(flanking)	-0.001	0.001

?

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

11

Strand

1

Original gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCAGGGGTCGGGGACAGGTGGGA

Altered gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCCGGGGTCGGGGACAGGTGGGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MDFLIVLVCL IFSVLSTIEQ YAALATGTLF WMEIVLVVFF GTEYVVRLWS AGCRSKYVGL
WGRLRFARKP ISIIDLIVVV ASMVVLCVGS KGQVFATSAI RGIRFLQILR MLHVDRQGGT
WRLLGSVVFI HRQELITTLY IGFLGLIFSS YFVYLAEKDA VNESGRVEFG SYADALWWGV
VTVTTIGYGD KVPQTWVGKT IASCFSVFAI SFFALPAGIL GSGFALKVQQ KQRQKHFNRQ
IPAAASLIQT AWRCYAAENP DSSTWKIYIR KAPRSHTLLS PSPKPKKSVV VKKKKFKLDK
DNGVTPGEKM LTVPHITCDP PEERRLDHFS VDGYDSSVRK SPTLLEVSMP HFMRTNSFAE
DLDLEGETLL TPITHISQLR EHHRATIKVI RRMQYFVAKK KFQQARKPYD VRDVIEQYSQ
GHLNLMVRIK ELQRRLDQSI GKPSLFISVS EKSKDRGSNT IGARLNRVED KVTQLDQRLA
LITDMLHQLL SLHGGSTPGS GGPPREGGAH ITQPCGSGGS VDPELFLPSN TLPTYEQLTV
PRRGPDEGS*

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

270 / 270

Last intron/exon boundary

1682

Theoretical NMD boundary in CDS

1362

Length of CDS

1650

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

391311

Chromosomal position

2835964

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

11:2835964A>C_3_ENST00000155840

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 8|192 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr11:2835964A>C (GRCh38)

Gene symbol

KCNQ1

Gene constraints

LOEUF: 0.92, LOF (oe): 0.72, misssense (oe): 0.92, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000155840.12

Genbank transcript ID

NM_000218 (exact from MANE), NM_001406837 (by similarity), NM_001406836 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1795-11803A>C
g.391311A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2237895
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	10273	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.413	0
	-3.035	0
(flanking)	-0.001	0.001

?

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

11

Strand

1

Original gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCAGGGGTCGGGGACAGGTGGGA

Altered gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCCGGGGTCGGGGACAGGTGGGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAAASSPPRA ERKRWGWGRL PGARRGSAGL AKKCPFSLEL AEGGPAGGAL YAPIAPGAPG
PAPPASPAAP AAPPVASDLG PRPPVSLDPR VSIYSTRRPV LARTHVQGRV YNFLERPTGW
KCFVYHFAVF LIVLVCLIFS VLSTIEQYAA LATGTLFWME IVLVVFFGTE YVVRLWSAGC
RSKYVGLWGR LRFARKPISI IDLIVVVASM VVLCVGSKGQ VFATSAIRGI RFLQILRMLH
VDRQGGTWRL LGSVVFIHRQ ELITTLYIGF LGLIFSSYFV YLAEKDAVNE SGRVEFGSYA
DALWWGVVTV TTIGYGDKVP QTWVGKTIAS CFSVFAISFF ALPAGILGSG FALKVQQKQR
QKHFNRQIPA AASLIQTAWR CYAAENPDSS TWKIYIRKAP RSHTLLSPSP KPKKSVVVKK
KKFKLDKDNG VTPGEKMLTV PHITCDPPEE RRLDHFSVDG YDSSVRKSPT LLEVSMPHFM
RTNSFAEDLD LEGETLLTPI THISQLREHH RATIKVIRRM QYFVAKKKFQ QARKPYDVRD
VIEQYSQGHL NLMVRIKELQ RRLDQSIGKP SLFISVSEKS KDRGSNTIGA RLNRVEDKVT
QLDQRLALIT DMLHQLLSLH GGSTPGSGGP PREGGAHITQ PCGSGGSVDP ELFLPSNTLP
TYEQLTVPRR GPDEGS*

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

92 / 92

Last intron/exon boundary

1885

Theoretical NMD boundary in CDS

1743

Length of CDS

2031

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

391311

Chromosomal position

2835964

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

11:2835964A>C_6_ENST00000496887

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 18|182 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr11:2835964A>C (GRCh38)

Gene symbol

KCNQ1

Gene constraints

LOEUF: 0.89, LOF (oe): 0.57, misssense (oe): 0.75, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000496887.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1438-11803A>C
g.391311A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs2237895
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	10273	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.413	0
	-3.035	0
(flanking)	-0.001	0.001

?

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

11

Strand

1

Original gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCAGGGGTCGGGGACAGGTGGGA

Altered gDNA sequence snippet

CGGGCCCGGTCAGTGGTCCCCGGGGTCGGGGACAGGTGGGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MTRAGLSSTR RPVLARTHVQ GRVYNFLERP TGWKCFVYHF AVFLIVLVCL IFSVLSTIEQ
YAALATGTLF WMEIVLVVFF GTEYVVRLWS AGCRSKYVGL WGRLRFARKP ISIIDLIVVV
ASMVVLCVGS KGQVFATSAI RGIRFLQILR MLHVDRQGGT WRLLGSVVFI HRQELITTLY
IGFLGLIFSS YFVYLAEKDA VNESGRVEFG SYADALWWGV VTVTTIGYGD KVPQTWVGKT
IASCFSVFAI SFFALPATAW RCYAAENPDS STWKIYIRKA PRSHTLLSPS PKPKKSVVVK
KKKFKLDKDN GVTPGEKMLT VPHITCDPPE ERRLDHFSVD GYDSSVRKSP TLLEVSMPHF
MRTNSFAEDL DLEGETLLTP ITHISQLREH HRATIKVIRR MQYFVAKKKF QQARKPYDVR
DVIEQYSQGH LNLMVRIKEL QRRLDQSIGK PSLFISVSEK SKDRGSNTIG ARLNRVEDKV
TQLDQRLALI TDMLHQLLSL HGGSTPGSGG PPREGGAHIT QPCGSGGSVD PELFLPSNTL
PTYEQLTVPR RGPDEGS*

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

33 / 33

Last intron/exon boundary

1469

Theoretical NMD boundary in CDS

1386

Length of CDS

1674

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

391311

Chromosomal position

2835964

Speed

0.02 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

Back to summary table