MutationT @ ster 2025

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

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.50, LOF (oe): 0.35, misssense (oe): 0.59, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000348520.10

Genbank transcript ID

NM_001394846 (by similarity), NM_182923 (by similarity), NM_001394851 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1651-1239G>A
g.137521G>A

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	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

1

Original gDNA sequence snippet

CACTGCTCAGCTCACGCAGCGTGGCCCCCAGGGACTGCAGA

Altered gDNA sequence snippet

CACTGCTCAGCTCACGCAGCATGGCCCCCAGGGACTGCAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYDNMSTMVY IKEDKLEKLT QDEIISKTKQ VIQGLEALKN EHNSILQSLL ETLKCLKKDD
ESNLVEEKSN MIRKSLEMLE LGLSEAQVMM ALSNHLNAVE SEKQKLRAQV RRLCQENQWL
RDELANTQQK LQKSEQSVAQ LEEEKKHLEF MNQLKKYDDD ISPSEDKDTD STKEPLDDLF
PNDEDDPGQG IQQQHSSAAA AAQQGGYEIP ARLRTLHNLV IQYASQGRYE VAVPLCKQAL
EDLEKTSGHD HPDVATMLNI LALVYRDQNK YKDAANLLND ALAIREKTLG KDHPAVAATL
NNLAVLYGKR GKYKEAEPLC KRALEIREKV LGKDHPDVAK QLNNLALLCQ NQGKYEEVEY
YYQRALEIYQ TKLGPDDPNV AKTKNNLASC YLKQGKFKQA ETLYKEILTR AHEREFGSVD
DENKPIWMHA EEREECKGKQ KDGTSFGEYG GWYKACKVDS PTVTTTLKNL GALYRRQGKF
EAAETLEEAA MRSRKQGLDN VHKQRVAEVL NDPENMEKRR SRESLNVDVV KYESGPDGGE
EVSMSVEWNG GVSGRASFCG KRQQQQWPGR RHR*

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

320 / 320

Last intron/exon boundary

2042

Theoretical NMD boundary in CDS

1672

Length of CDS

1722

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

137521

Chromosomal position

103699416

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

MutationT@ster 2025

Variant:

14:103699416G>A_6_ENST00000452929

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

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.50, LOF (oe): 0.35, misssense (oe): 0.59, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000452929.6

Genbank transcript ID

NM_001394836 (by similarity), NM_001130107 (by similarity), NM_001394842 (by similarity), NM_001394843 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1782-1239G>A
g.137521G>A

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	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

1

Original gDNA sequence snippet

CACTGCTCAGCTCACGCAGCGTGGCCCCCAGGGACTGCAGA

Altered gDNA sequence snippet

CACTGCTCAGCTCACGCAGCATGGCCCCCAGGGACTGCAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYDNMSTMVY IKEDKLEKLT QDEIISKTKQ VIQGLEALKN EHNSILQSLL ETLKCLKKDD
ESNLVEEKSN MIRKSLEMLE LGLSEAQVMM ALSNHLNAVE SEKQKLRAQV RRLCQENQWL
RDELANTQQK LQKSEQSVAQ LEEEKKHLEF MNQLKKYDDD ISPSEDKDTD STKEPLDDLF
PNDEDDPGQG IQQQHSSAAA AAQQGGYEIP ARLRTLHNLV IQYASQGRYE VAVPLCKQAL
EDLEKTSGHD HPDVATMLNI LALVYRDQNK YKDAANLLND ALAIREKTLG KDHPAVAATL
NNLAVLYGKR GKYKEAEPLC KRALEIREKV LGKDHPDVAK QLNNLALLCQ NQGKYEEVEY
YYQRALEIYQ TKLGPDDPNV AKTKNNLASC YLKQGKFKQA ETLYKEILTR AHEREFGSVD
DENKPIWMHA EEREECKGKQ KDGTSFGEYG GWYKACKVDS PTVTTTLKNL GALYRRQGKF
EAAETLEEAA MRSRKQGLDN VHKQRVAEVL NDPENMEKRR SRESLNVDVV KYESGPDGGE
EVSMSVEWNG DGTGSLKRSG SFSKLRASIR RSSEKLVRKL KGGSSRESEP KNPGASLAEP
LFVENDSSSS GLEDATAN*

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

256 / 256

Last intron/exon boundary

2109

Theoretical NMD boundary in CDS

1803

Length of CDS

1857

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

137521

Chromosomal position

103699416

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

MutationT@ster 2025

Variant:

14:103699416G>A_11_ENST00000555836

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

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.43, LOF (oe): 0.29, misssense (oe): 0.60, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000555836.5

Genbank transcript ID

NM_001394834 (by similarity), NM_001394840 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1822-1239G>A
g.137521G>A

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	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

1

Original gDNA sequence snippet

CACTGCTCAGCTCACGCAGCGTGGCCCCCAGGGACTGCAGA

Altered gDNA sequence snippet

CACTGCTCAGCTCACGCAGCATGGCCCCCAGGGACTGCAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYDNMSTMVY IKEDKLEKLT QDEIISKTKQ VIQGLEALKN EHNSILQSLL ETLKCLKKDD
ESNLVEEKSN MIRKSLEMLE LGLSEAQVMM ALSNHLNAVE SEKQKLRAQV RRLCQENQWL
RDELANTQQK LQKSEQSVAQ LEEEKKHLEF MNQLKKYDDD ISPSEDKDTD STKEPLDDLF
PNDEDDPGQG IQQQHSSAAA AAQQGGYEIP ARLRTLHNLV IQYASQGRYE VAVPLCKQAL
EDLEKTSGHD HPDVATMLNI LALVYRDQNK YKDAANLLND ALAIREKTLG KDHPAVAATL
NNLAVLYGKR GKYKEAEPLC KRALEIREKV LGKDHPDVAK QLNNLALLCQ NQGKYEEVEY
YYQRALEIYQ TKLGPDDPNV AKTKNNLASC YLKQGKFKQA ETLYKEILTR AHEREFGSVD
DENKPIWMHA EEREECKGKQ KDGTSFGEYG GWYKACKVDS PTVTTTLKNL GALYRRQGKF
EAAETLEEAA MRSRKQGLDN VHKQRVAEVL NDPENMEKRR SRESLNVDVV KYESGPDGGE
EDGTGSLKRS GSFSKLRASI RRSSEKLVRK LKGGSSRESE PKNPGMKRAS SLNVLNVGGK
AAEDRFQGVS GRASFCGKRQ QQQWPGRRHR *

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

260 / 260

Last intron/exon boundary

2153

Theoretical NMD boundary in CDS

1843

Length of CDS

1893

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

137521

Chromosomal position

103699416

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:

14:103699416G>A_9_ENST00000557450

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

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.41, LOF (oe): 0.28, misssense (oe): 0.58, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000557450.5

Genbank transcript ID

NM_001394848 (by similarity), NM_001394852 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1624-1239G>A
g.137521G>A

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	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

1

Original gDNA sequence snippet

CACTGCTCAGCTCACGCAGCGTGGCCCCCAGGGACTGCAGA

Altered gDNA sequence snippet

CACTGCTCAGCTCACGCAGCATGGCCCCCAGGGACTGCAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYDNMSTMVY IKEDKLEKLT QDEIISKTKQ VIQGLEALKN EHNSILQSLL ETLKCLKKDD
ESNLVEEKSN MIRKSLEMLE LGLSEAQVMM ALSNHLNAVE SEKQKLRAQV RRLCQENQWL
RDELANTQQK LQKSEQSVAQ LEEEKKHLEF MNQLKKYDDD ISPSEDKDTD STKEPLDDLF
PNDEDDPGQG IQQQHSSAAA AAQQGGYEIP ARLRTLHNLV IQYASQGRYE VAVPLCKQAL
EDLEKTSGHD HPDVATMLNI LALVYRDQNK YKDAANLLND ALAIREKTLG KDHPAVAATL
NNLAVLYGKR GKYKEAEPLC KRALEIREKV LGKDHPDVAK QLNNLALLCQ NQGKYEEVEY
YYQRALEIYQ TKLGPDDPNV AKTKNNLASC YLKQGKFKQA ETLYKEILTR AHEREFGSVD
DENKPIWMHA EEREECKGKQ KDGTSFGEYG GWYKACKVDS PTVTTTLKNL GALYRRQGKF
EAAETLEEAA MRSRKQGLDN VHKQRVAEVL NDPENMEKRR SRESLNVDVV KYESGPDGGE
EGVSGRASFC GKRQQQQWPG RRHR*

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

256 / 256

Last intron/exon boundary

1951

Theoretical NMD boundary in CDS

1645

Length of CDS

1695

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

137521

Chromosomal position

103699416

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

MutationT@ster 2025

Variant:

14:103699416G>A_10_ENST00000334553

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

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.51, LOF (oe): 0.36, misssense (oe): 0.60, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000334553.11

Genbank transcript ID

NM_001394837 (exact from MANE), NM_001394832 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1849-1239G>A
g.137521G>A

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	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

1

Original gDNA sequence snippet

CACTGCTCAGCTCACGCAGCGTGGCCCCCAGGGACTGCAGA

Altered gDNA sequence snippet

CACTGCTCAGCTCACGCAGCATGGCCCCCAGGGACTGCAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYDNMSTMVY IKEDKLEKLT QDEIISKTKQ VIQGLEALKN EHNSILQSLL ETLKCLKKDD
ESNLVEEKSN MIRKSLEMLE LGLSEAQVMM ALSNHLNAVE SEKQKLRAQV RRLCQENQWL
RDELANTQQK LQKSEQSVAQ LEEEKKHLEF MNQLKKYDDD ISPSEDKDTD STKEPLDDLF
PNDEDDPGQG IQQQHSSAAA AAQQGGYEIP ARLRTLHNLV IQYASQGRYE VAVPLCKQAL
EDLEKTSGHD HPDVATMLNI LALVYRDQNK YKDAANLLND ALAIREKTLG KDHPAVAATL
NNLAVLYGKR GKYKEAEPLC KRALEIREKV LGKDHPDVAK QLNNLALLCQ NQGKYEEVEY
YYQRALEIYQ TKLGPDDPNV AKTKNNLASC YLKQGKFKQA ETLYKEILTR AHEREFGSVD
DENKPIWMHA EEREECKGKQ KDGTSFGEYG GWYKACKVDS PTVTTTLKNL GALYRRQGKF
EAAETLEEAA MRSRKQGLDN VHKQRVAEVL NDPENMEKRR SRESLNVDVV KYESGPDGGE
EVSMSVEWNG DGTGSLKRSG SFSKLRASIR RSSEKLVRKL KGGSSRESEP KNPGMKRASS
LNVLNVGGKA AEDRFQGVSG RASFCGKRQQ QQWPGRRHR*

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

286 / 286

Last intron/exon boundary

2206

Theoretical NMD boundary in CDS

1870

Length of CDS

1920

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

137521

Chromosomal position

103699416

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

MutationT@ster 2025

Variant:

14:103699416G>A_8_ENST00000554280

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

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.41, LOF (oe): 0.27, misssense (oe): 0.59, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000554280.5

Genbank transcript ID

NM_001394839 (by similarity), NM_001394844 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1755-1239G>A
g.137521G>A

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	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

1

Original gDNA sequence snippet

CACTGCTCAGCTCACGCAGCGTGGCCCCCAGGGACTGCAGA

Altered gDNA sequence snippet

CACTGCTCAGCTCACGCAGCATGGCCCCCAGGGACTGCAGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MYDNMSTMVY IKEDKLEKLT QDEIISKTKQ VIQGLEALKN EHNSILQSLL ETLKCLKKDD
ESNLVEEKSN MIRKSLEMLE LGLSEAQVMM ALSNHLNAVE SEKQKLRAQV RRLCQENQWL
RDELANTQQK LQKSEQSVAQ LEEEKKHLEF MNQLKKYDDD ISPSEDKDTD STKEPLDDLF
PNDEDDPGQG IQQQHSSAAA AAQQGGYEIP ARLRTLHNLV IQYASQGRYE VAVPLCKQAL
EDLEKTSGHD HPDVATMLNI LALVYRDQNK YKDAANLLND ALAIREKTLG KDHPAVAATL
NNLAVLYGKR GKYKEAEPLC KRALEIREKV LGKDHPDVAK QLNNLALLCQ NQGKYEEVEY
YYQRALEIYQ TKLGPDDPNV AKTKNNLASC YLKQGKFKQA ETLYKEILTR AHEREFGSVD
DENKPIWMHA EEREECKGKQ KDGTSFGEYG GWYKACKVDS PTVTTTLKNL GALYRRQGKF
EAAETLEEAA MRSRKQGLDN VHKQRVAEVL NDPENMEKRR SRESLNVDVV KYESGPDGGE
EDGTGSLKRS GSFSKLRASI RRSSEKLVRK LKGGSSRESE PKNPGASLAE PLFVENDSSS
SGLEDATAN*

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

256 / 256

Last intron/exon boundary

2082

Theoretical NMD boundary in CDS

1776

Length of CDS

1830

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

137521

Chromosomal position

103699416

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

MutationT@ster 2025

Variant:

14:103699416G>A_1_ENST00000555055

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 30|70 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.80, LOF (oe): 1.38, misssense (oe): 1.11, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000555055.6

Genbank transcript ID

NM_005432 (exact from MANE), NM_001371231 (by similarity), NM_001371229 (by similarity), NM_001100119 (by similarity)

UniProt / AlphaMissense peptide

XRCC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.722C>T
g.16089C>T

AA changes

AAE:	T241M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		241	P	R	A	R	H	L	Q	S	L	G	A	T	L	R	E	L	S	S	A	F	Q	S	P	V
mutated	not conserved	241												M	L	R	E	L	S	S	A	F	Q	S	P
Ptroglodytes	not conserved	241												A	L	R	E	L	S	S	A	F	Q	S	P
Mmulatta	not conserved	241												A	L	R	E	L	S	S	A	F	Q	S	P
Fcatus	all identical	241												T	L	R	R	L	S	S	T	F	R	S	P
Mmusculus	all identical	241												T	L	R	R	L	S	S	T	F	R	S	P
Ggallus	not conserved	241												Q	L	H	G	L	S	T	R	F	R	T	P
Trubripes	all identical	241												T	L	H	R	L	S	Q	E	F	S	T	T
Drerio	no homologue
Dmelanogaster	not conserved	241	E	R	A	R	H	M	R	R	L	A	D	A	L	L	S	Y	A	D	K	Y	N	C	A
Celegans	no homologue
Xtropicalis	not conserved	241												K	L	H	S	M	S	S	R	F	L	T	P

Protein features

Start (aa)	End (aa)	Feature	Details
1	346	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

-1

Original gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Original cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Wildtype AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
TLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Mutated AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
MLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Position of stopcodon in wt / mu CDS

1041 / 1041

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

347 / 347

Position of stopcodon in wt / mu cDNA

1386 / 1386

Position of start ATG in wt / mu cDNA

346 / 346

Last intron/exon boundary

1166

Theoretical NMD boundary in CDS

770

Length of CDS

1041

Coding sequence (CDS) position

722

cDNA position

1067

gDNA position

16089

Chromosomal position

103699416

Speed

0.35 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:

14:103699416G>A_2_ENST00000352127

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.80, LOF (oe): 1.38, misssense (oe): 1.11, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000352127.11

Genbank transcript ID

NM_001100118 (by similarity)

UniProt / AlphaMissense peptide

XRCC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.722C>T
g.16089C>T

AA changes

AAE:	T241M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		241	P	R	A	R	H	L	Q	S	L	G	A	T	L	R	E	L	S	S	A	F	Q	S	P	V
mutated	not conserved	241												M	L	R	E	L	S	S	A	F	Q	S	P
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	346	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

-1

Original gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Original cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Wildtype AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
TLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Mutated AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
MLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Position of stopcodon in wt / mu CDS

1041 / 1041

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

347 / 347

Position of stopcodon in wt / mu cDNA

1382 / 1382

Position of start ATG in wt / mu cDNA

342 / 342

Last intron/exon boundary

1162

Theoretical NMD boundary in CDS

770

Length of CDS

1041

Coding sequence (CDS) position

722

cDNA position

1063

gDNA position

16089

Chromosomal position

103699416

Speed

0.37 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:

14:103699416G>A_3_ENST00000553264

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.80, LOF (oe): 1.38, misssense (oe): 1.11, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000553264.5

Genbank transcript ID

UniProt / AlphaMissense peptide

XRCC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.722C>T
g.16089C>T

AA changes

AAE:	T241M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		241	P	R	A	R	H	L	Q	S	L	G	A	T	L	R	E	L	S	S	A	F	Q	S	P	V
mutated	not conserved	241												M	L	R	E	L	S	S	A	F	Q	S	P
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	346	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

-1

Original gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Original cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Wildtype AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
TLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Mutated AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
MLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Position of stopcodon in wt / mu CDS

1041 / 1041

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

347 / 347

Position of stopcodon in wt / mu cDNA

1838 / 1838

Position of start ATG in wt / mu cDNA

798 / 798

Last intron/exon boundary

1618

Theoretical NMD boundary in CDS

770

Length of CDS

1041

Coding sequence (CDS) position

722

cDNA position

1519

gDNA position

16089

Chromosomal position

103699416

Speed

0.33 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:

14:103699416G>A_7_ENST00000554913

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.80, LOF (oe): 1.38, misssense (oe): 1.11, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000554913.5

Genbank transcript ID

NM_001371232 (by similarity)

UniProt / AlphaMissense peptide

XRCC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.722C>T
g.16089C>T

AA changes

AAE:	T241M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		241	P	R	A	R	H	L	Q	S	L	G	A	T	L	R	E	L	S	S	A	F	Q	S	P	V
mutated	not conserved	241												M	L	R	E	L	S	S	A	F	Q	S	P
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	346	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

-1

Original gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Original cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Wildtype AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
TLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Mutated AA sequence

MDLDLLDLNP RIIAAIKKAK LKSVKEVLHF SGPDLKRLTN LSSPEVWHLL RTASLHLRGS
SILTALQLHQ QKERFPTQHQ RLSLGCPVLD ALLRGGLPLD GITELAGRSS AGKTQLALQL
CLAVQFPRQH GGLEAGAVYI CTEDAFPHKR LQQLMAQQPR LRTDVPGELL QKLRFGSQIF
IEHVADVDTL LECVNKKVPV LLSRGMARLV VIDSVAAPFR CEFDSQASAP RARHLQSLGA
MLRELSSAFQ SPVLCINQVT EAMEEQGAAH GPLGFWDERV SPALGITWAN QLLVRLLADR
LREEEAALGC PARTLRVLSA PHLPPSSCSY TISAEGVRGT PGTQSH*

Position of stopcodon in wt / mu CDS

1041 / 1041

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

347 / 347

Position of stopcodon in wt / mu cDNA

1350 / 1350

Position of start ATG in wt / mu cDNA

310 / 310

Last intron/exon boundary

1130

Theoretical NMD boundary in CDS

770

Length of CDS

1041

Coding sequence (CDS) position

722

cDNA position

1031

gDNA position

16089

Chromosomal position

103699416

Speed

0.31 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:

14:103699416G>A_4_ENST00000554974

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 51|49 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr14:103699416G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.82, LOF (oe): 1.13, misssense (oe): 1.08, synonymous (oe): 1.20 ? (gnomAD)

Ensembl transcript ID

ENST00000554974.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.107C>T
g.16089C>T

AA changes

AAE:	T36M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs861539
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		36	P	R	A	R	H	L	Q	S	L	G	A	T	L	R	E	L	S	S	A	F	Q	S	P	V
mutated	not conserved	36	P	R	A	R	H	L	Q	S	L	G	A	M	L	R	E	L	S	S	A	F	Q	S	P
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)	-0.769	0
	0.797	0
(flanking)	-0.629	0

?

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

14

Strand

-1

Original gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered gDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Original cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCACGCTGCGTGAGCTGAGCAGTG

Altered cDNA sequence snippet

TCTGCAGTCCCTGGGGGCCATGCTGCGTGAGCTGAGCAGTG

Wildtype AA sequence

MARLVVIDSV AAPFRCEFDS QASAPRARHL QSLGATLREL SSAFQSPVLC INQVTEAMEE
QGAAHGPLGF WDERVSPALG ITWANQLLVR LLADRLREEE AALGCPARTL RVLSAPHLPP
SSCSYTISAE GVRGTPGTQS H*

Mutated AA sequence

MARLVVIDSV AAPFRCEFDS QASAPRARHL QSLGAMLREL SSAFQSPVLC INQVTEAMEE
QGAAHGPLGF WDERVSPALG ITWANQLLVR LLADRLREEE AALGCPARTL RVLSAPHLPP
SSCSYTISAE GVRGTPGTQS H*

Position of stopcodon in wt / mu CDS

426 / 426

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

142 / 142

Position of stopcodon in wt / mu cDNA

516 / 516

Position of start ATG in wt / mu cDNA

91 / 91

Last intron/exon boundary

296

Theoretical NMD boundary in CDS

155

Length of CDS

426

Coding sequence (CDS) position

107

cDNA position

197

gDNA position

16089

Chromosomal position

103699416

Speed

0.32 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