Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.52153919_52153933delinsTATGCAGCAGGTGTGCA2177210863GNB5c.375+7_375+21delinsCACACCTGCTGCATA (n.375+7_375+21delinsCACACCTGCTGCATA)
c.249+7_249+21delinsCACACCTGCTGCATA (n.249+7_249+21delinsCACACCTGCTGCATA)
n.406+7_406+21delinsCACACCTGCTGCATA
c.93+7_93+21delinsCACACCTGCTGCATA (n.93+7_93+21delinsCACACCTGCTGCATA)
n.327+7_327+21delinsCACACCTGCTGCATA
15g.52153921_52153934delCA7565863GNB5c.375+7_375+20del (n.375+7_375+20del)
c.249+7_249+20del (n.249+7_249+20del)
n.406+7_406+20del
c.93+7_93+20del (n.93+7_93+20del)
n.327+7_327+20del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52153928G>ACA618024992GNB5c.375+12C>T (n.375+12C>T)
c.249+12C>T (n.249+12C>T)
n.406+12C>T
c.93+12C>T (n.93+12C>T)
n.327+12C>T
 dbSNP gnomAD v2 gnomAD v4
15g.52153928G=CA2177210873GNB5c.375+12C= (n.375+12C=)
c.249+12C= (n.249+12C=)
n.406+12C=
c.93+12C= (n.93+12C=)
n.327+12C=
15g.52153929G>ACA7565866GNB5c.375+11C>T (n.375+11C>T)
c.249+11C>T (n.249+11C>T)
n.406+11C>T
c.93+11C>T (n.93+11C>T)
n.327+11C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.52153929G=CA2177210876GNB5c.375+11C= (n.375+11C=)
c.249+11C= (n.249+11C=)
n.406+11C=
c.93+11C= (n.93+11C=)
n.327+11C=
15g.52153931G>ACA618024995GNB5c.375+9C>T (n.375+9C>T)
c.249+9C>T (n.249+9C>T)
n.406+9C>T
c.93+9C>T (n.93+9C>T)
n.327+9C>T
 dbSNP gnomAD v2 gnomAD v4
15g.52153931G=CA2177210878GNB5c.375+9C= (n.375+9C=)
c.249+9C= (n.249+9C=)
n.406+9C=
c.93+9C= (n.93+9C=)
n.327+9C=
15g.52153932T>CCA7565867GNB5c.375+8A>G (n.375+8A>G)
c.249+8A>G (n.249+8A>G)
n.406+8A>G
c.93+8A>G (n.93+8A>G)
n.327+8A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52153932T>GCA2628513909GNB5c.375+8A>C (n.375+8A>C)
c.249+8A>C (n.249+8A>C)
n.406+8A>C
c.93+8A>C (n.93+8A>C)
n.327+8A>C
 gnomAD v4
15g.52153932T=CA2177210880GNB5c.375+8A= (n.375+8A=)
c.249+8A= (n.249+8A=)
n.406+8A=
c.93+8A= (n.93+8A=)
n.327+8A=
15g.52153933G>ACA2575728890GNB5c.375+7C>T (n.375+7C>T)
c.249+7C>T (n.249+7C>T)
n.406+7C>T
c.93+7C>T (n.93+7C>T)
n.327+7C>T
 gnomAD v4
15g.52153934A=CA2177210882GNB5c.375+6T= (n.375+6T=)
c.249+6T= (n.249+6T=)
n.406+6T=
c.93+6T= (n.93+6T=)
n.327+6T=
15g.52153934A>CCA2575728891GNB5c.375+6T>G (n.375+6T>G)
c.249+6T>G (n.249+6T>G)
n.406+6T>G
c.93+6T>G (n.93+6T>G)
n.327+6T>G
 dbSNP gnomAD v4
15g.52153934A>TCA618024999GNB5c.375+6T>A (n.375+6T>A)
c.249+6T>A (n.249+6T>A)
n.406+6T>A
c.93+6T>A (n.93+6T>A)
n.327+6T>A
 dbSNP gnomAD v2
15g.52153936A>CCA2575728892GNB5c.375+4T>G (n.375+4T>G)
c.249+4T>G (n.249+4T>G)
n.406+4T>G
c.93+4T>G (n.93+4T>G)
n.327+4T>G
 dbSNP gnomAD v4
15g.52153936A>GCA2628513910GNB5c.375+4T>C (n.375+4T>C)
c.249+4T>C (n.249+4T>C)
n.406+4T>C
c.93+4T>C (n.93+4T>C)
n.327+4T>C
 gnomAD v4
15g.52153937T>ACA2177210889GNB5c.375+3A>T (n.375+3A>T)
c.249+3A>T (n.249+3A>T)
n.406+3A>T
c.93+3A>T (n.93+3A>T)
n.327+3A>T
 dbSNP
15g.52153937T>CCA10602651GNB5c.375+3A>G (n.375+3A>G)
c.249+3A>G (n.249+3A>G)
n.406+3A>G
c.93+3A>G (n.93+3A>G)
n.327+3A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.52153937T=CA2177210888GNB5c.375+3A= (n.375+3A=)
c.249+3A= (n.249+3A=)
n.406+3A=
c.93+3A= (n.93+3A=)
n.327+3A=
15g.52153938A=CA2177210894GNB5c.375+2T= (n.375+2T=)
c.249+2T= (n.249+2T=)
n.406+2T=
c.93+2T= (n.93+2T=)
n.327+2T=
15g.52153938A>CCA392482285GNB5c.375+2T>G (n.375+2T>G)
c.249+2T>G (n.249+2T>G)
n.406+2T>G
c.93+2T>G (n.93+2T>G)
n.327+2T>G
15g.52153938A>GCA392482286GNB5c.375+2T>C (n.375+2T>C)
c.249+2T>C (n.249+2T>C)
n.406+2T>C
c.93+2T>C (n.93+2T>C)
n.327+2T>C
 gnomAD v4
15g.52153938A>TCA392482287GNB5c.375+2T>A (n.375+2T>A)
c.249+2T>A (n.249+2T>A)
n.406+2T>A
c.93+2T>A (n.93+2T>A)
n.327+2T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.52153939C>ACA10602650GNB5c.375+1G>T (n.375+1G>T)
c.249+1G>T (n.249+1G>T)
n.406+1G>T
c.93+1G>T (n.93+1G>T)
n.327+1G>T
 ClinVar dbSNP
15g.52153939C=CA2177210898GNB5c.375+1G= (n.375+1G=)
c.249+1G= (n.249+1G=)
n.406+1G=
c.93+1G= (n.93+1G=)
n.327+1G=
15g.52153939C>GCA392482298GNB5c.375+1G>C (n.375+1G>C)
c.249+1G>C (n.249+1G>C)
n.406+1G>C
c.93+1G>C (n.93+1G>C)
n.327+1G>C
15g.52153939C>TCA392482301GNB5c.375+1G>A (n.375+1G>A)
c.249+1G>A (n.249+1G>A)
n.406+1G>A
c.93+1G>A (n.93+1G>A)
n.327+1G>A
 ClinVar dbSNP gnomAD v4
15g.52153940C>ACA392482312GNB5c.375G>T (p.Gln125His)
c.249G>T (p.Gln83His)
n.406G>T
c.93G>T (p.Gln31His)
n.327G>T
15g.52153940C=CA2177210907GNB5c.375G= (p.Gln125=)
c.249G= (p.Gln83=)
n.406G=
c.93G= (p.Gln31=)
n.327G=
15g.52153940C>GCA392482310GNB5c.375G>C (p.Gln125His)
c.249G>C (p.Gln83His)
n.406G>C
c.93G>C (p.Gln31His)
n.327G>C
15g.52153940C>TCA10602649GNB5c.375G>A (p.Gln125=)
c.249G>A (p.Gln83=)
n.406G>A
c.93G>A (p.Gln31=)
n.327G>A
 ClinVar dbSNP
15g.52153941T>ACA392482315GNB5c.374A>T (p.Gln125Leu)
c.248A>T (p.Gln83Leu)
n.405A>T
c.92A>T (p.Gln31Leu)
n.326A>T
15g.52153941T>CCA392482334GNB5c.374A>G (p.Gln125Arg)
c.248A>G (p.Gln83Arg)
n.405A>G
c.92A>G (p.Gln31Arg)
n.326A>G
15g.52153941T>GCA392482343GNB5c.374A>C (p.Gln125Pro)
c.248A>C (p.Gln83Pro)
n.405A>C
c.92A>C (p.Gln31Pro)
n.326A>C
15g.52153942G>ACA392482348GNB5c.373C>T (p.Gln125Ter)
c.247C>T (p.Gln83Ter)
n.404C>T
c.91C>T (p.Gln31Ter)
n.325C>T
15g.52153942G>CCA392482356GNB5c.373C>G (p.Gln125Glu)
c.247C>G (p.Gln83Glu)
n.404C>G
c.91C>G (p.Gln31Glu)
n.325C>G
15g.52153942G>TCA392482371GNB5c.373C>A (p.Gln125Lys)
c.247C>A (p.Gln83Lys)
n.404C>A
c.91C>A (p.Gln31Lys)
n.325C>A
15g.52153943T>ACA490403670GNB5c.372A>T (p.Ser124=)
c.246A>T (p.Ser82=)
n.403A>T
c.90A>T (p.Ser30=)
n.324A>T
15g.52153943T>CCA490403671GNB5c.372A>G (p.Ser124=)
c.246A>G (p.Ser82=)
n.403A>G
c.90A>G (p.Ser30=)
n.324A>G
15g.52153943T>GCA490403672GNB5c.372A>C (p.Ser124=)
c.246A>C (p.Ser82=)
n.403A>C
c.90A>C (p.Ser30=)
n.324A>C
15g.52153944G>ACA392482388GNB5c.371C>T (p.Ser124Leu)
c.245C>T (p.Ser82Leu)
n.402C>T
c.89C>T (p.Ser30Leu)
n.323C>T
15g.52153944G>CCA392482376GNB5c.371C>G (p.Ser124Ter)
c.245C>G (p.Ser82Ter)
n.402C>G
c.89C>G (p.Ser30Ter)
n.323C>G
15g.52153944G>TCA392482382GNB5c.371C>A (p.Ser124Ter)
c.245C>A (p.Ser82Ter)
n.402C>A
c.89C>A (p.Ser30Ter)
n.323C>A
15g.52153945A>CCA392482396GNB5c.370T>G (p.Ser124Ala)
c.244T>G (p.Ser82Ala)
n.401T>G
c.88T>G (p.Ser30Ala)
n.322T>G
15g.52153945A>GCA392482399GNB5c.370T>C (p.Ser124Pro)
c.244T>C (p.Ser82Pro)
n.401T>C
c.88T>C (p.Ser30Pro)
n.322T>C
15g.52153945A>TCA392482403GNB5c.370T>A (p.Ser124Thr)
c.244T>A (p.Ser82Thr)
n.401T>A
c.88T>A (p.Ser30Thr)
n.322T>A
15g.52153946C>ACA490403673GNB5c.369G>T (p.Ser123=)
c.243G>T (p.Ser81=)
n.400G>T
c.87G>T (p.Ser29=)
n.321G>T
15g.52153946C=CA2177210917GNB5c.369G= (p.Ser123=)
c.243G= (p.Ser81=)
n.400G=
c.87G= (p.Ser29=)
n.321G=
15g.52153946C>GCA7565869GNB5c.369G>C (p.Ser123=)
c.243G>C (p.Ser81=)
n.400G>C
c.87G>C (p.Ser29=)
n.321G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.52153946C>TCA7565868GNB5c.369G>A (p.Ser123=)
c.243G>A (p.Ser81=)
n.400G>A
c.87G>A (p.Ser29=)
n.321G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.52153947G>ACA7565870GNB5c.368C>T (p.Ser123Leu)
c.242C>T (p.Ser81Leu)
n.399C>T
c.86C>T (p.Ser29Leu)
n.320C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.52153947G>CCA392482442GNB5c.368C>G (p.Ser123Trp)
c.242C>G (p.Ser81Trp)
n.399C>G
c.86C>G (p.Ser29Trp)
n.320C>G
 ClinVar gnomAD v4
15g.52153947G=CA2177210921GNB5c.368C= (p.Ser123=)
c.242C= (p.Ser81=)
n.399C=
c.86C= (p.Ser29=)
n.320C=
15g.52153947G>TCA392482437GNB5c.368C>A (p.Ser123Ter)
c.242C>A (p.Ser81Ter)
n.399C>A
c.86C>A (p.Ser29Ter)
n.320C>A
 ClinVar gnomAD v4
15g.52153948A>CCA392482451GNB5c.367T>G (p.Ser123Ala)
c.241T>G (p.Ser81Ala)
n.398T>G
c.85T>G (p.Ser29Ala)
n.319T>G
15g.52153948A>GCA392482456GNB5c.367T>C (p.Ser123Pro)
c.241T>C (p.Ser81Pro)
n.398T>C
c.85T>C (p.Ser29Pro)
n.319T>C
15g.52153948A>TCA392482460GNB5c.367T>A (p.Ser123Thr)
c.241T>A (p.Ser81Thr)
n.398T>A
c.85T>A (p.Ser29Thr)
n.319T>A
15g.52153949G>ACA490403674GNB5c.366C>T (p.Ser122=)
c.240C>T (p.Ser80=)
n.397C>T
c.84C>T (p.Ser28=)
n.318C>T
15g.52153949G>CCA392482461GNB5c.366C>G (p.Ser122Arg)
c.240C>G (p.Ser80Arg)
n.397C>G
c.84C>G (p.Ser28Arg)
n.318C>G
15g.52153949G>TCA392482462GNB5c.366C>A (p.Ser122Arg)
c.240C>A (p.Ser80Arg)
n.397C>A
c.84C>A (p.Ser28Arg)
n.318C>A
15g.52153950C>ACA392482470GNB5c.365G>T (p.Ser122Ile)
c.239G>T (p.Ser80Ile)
n.396G>T
c.83G>T (p.Ser28Ile)
n.317G>T
15g.52153950C=CA2177210926GNB5c.365G= (p.Ser122=)
c.239G= (p.Ser80=)
n.396G=
c.83G= (p.Ser28=)
n.317G=
15g.52153950C>GCA392482471GNB5c.365G>C (p.Ser122Thr)
c.239G>C (p.Ser80Thr)
n.396G>C
c.83G>C (p.Ser28Thr)
n.317G>C
 dbSNP gnomAD v2
15g.52153950C>TCA392482475GNB5c.365G>A (p.Ser122Asn)
c.239G>A (p.Ser80Asn)
n.396G>A
c.83G>A (p.Ser28Asn)
n.317G>A
 gnomAD v4
15g.52153951T>ACA392482479GNB5c.364A>T (p.Ser122Cys)
c.238A>T (p.Ser80Cys)
n.395A>T
c.82A>T (p.Ser28Cys)
n.316A>T
15g.52153951T>CCA392482481GNB5c.364A>G (p.Ser122Gly)
c.238A>G (p.Ser80Gly)
n.395A>G
c.82A>G (p.Ser28Gly)
n.316A>G
 dbSNP gnomAD v3 gnomAD v4
15g.52153951T>GCA392482483GNB5c.364A>C (p.Ser122Arg)
c.238A>C (p.Ser80Arg)
n.395A>C
c.82A>C (p.Ser28Arg)
n.316A>C
15g.52153951T=CA2177210929GNB5c.364A= (p.Ser122=)
c.238A= (p.Ser80=)
n.395A=
c.82A= (p.Ser28=)
n.316A=
15g.52153952C>ACA490403675GNB5c.363G>T (p.Val121=)
c.237G>T (p.Val79=)
n.394G>T
c.81G>T (p.Val27=)
n.315G>T
 gnomAD v4
15g.52153952C>GCA490403676GNB5c.363G>C (p.Val121=)
c.237G>C (p.Val79=)
n.394G>C
c.81G>C (p.Val27=)
n.315G>C
15g.52153952C>TCA490403677GNB5c.363G>A (p.Val121=)
c.237G>A (p.Val79=)
n.394G>A
c.81G>A (p.Val27=)
n.315G>A
15g.52153953A>CCA392482488GNB5c.362T>G (p.Val121Gly)
c.236T>G (p.Val79Gly)
n.393T>G
c.80T>G (p.Val27Gly)
n.314T>G
15g.52153953A>GCA392482503GNB5c.362T>C (p.Val121Ala)
c.236T>C (p.Val79Ala)
n.393T>C
c.80T>C (p.Val27Ala)
n.314T>C
15g.52153953A>TCA392482494GNB5c.362T>A (p.Val121Glu)
c.236T>A (p.Val79Glu)
n.393T>A
c.80T>A (p.Val27Glu)
n.314T>A
15g.52153954C>ACA392482509GNB5c.361G>T (p.Val121Leu)
c.235G>T (p.Val79Leu)
n.392G>T
c.79G>T (p.Val27Leu)
n.313G>T
15g.52153954C=CA2177210931GNB5c.361G= (p.Val121=)
c.235G= (p.Val79=)
n.392G=
c.79G= (p.Val27=)
n.313G=
15g.52153954C>GCA392482521GNB5c.361G>C (p.Val121Leu)
c.235G>C (p.Val79Leu)
n.392G>C
c.79G>C (p.Val27Leu)
n.313G>C
15g.52153954C>TCA7565871GNB5c.361G>A (p.Val121Met)
c.235G>A (p.Val79Met)
n.392G>A
c.79G>A (p.Val27Met)
n.313G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52153955G>ACA7565872GNB5c.360C>T (p.Ile120=)
c.234C>T (p.Ile78=)
n.391C>T
c.78C>T (p.Ile26=)
n.312C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.52153955G>CCA7565873GNB5c.360C>G (p.Ile120Met)
c.234C>G (p.Ile78Met)
n.391C>G
c.78C>G (p.Ile26Met)
n.312C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52153955G=CA2177210936GNB5c.360C= (p.Ile120=)
c.234C= (p.Ile78=)
n.391C=
c.78C= (p.Ile26=)
n.312C=
15g.52153955G>TCA490403678GNB5c.360C>A (p.Ile120=)
c.234C>A (p.Ile78=)
n.391C>A
c.78C>A (p.Ile26=)
n.312C>A
15g.52153956A>CCA392482545GNB5c.359T>G (p.Ile120Ser)
c.233T>G (p.Ile78Ser)
n.390T>G
c.77T>G (p.Ile26Ser)
n.311T>G
15g.52153956A>GCA392482547GNB5c.359T>C (p.Ile120Thr)
c.233T>C (p.Ile78Thr)
n.390T>C
c.77T>C (p.Ile26Thr)
n.311T>C
15g.52153956A>TCA392482548GNB5c.359T>A (p.Ile120Asn)
c.233T>A (p.Ile78Asn)
n.390T>A
c.77T>A (p.Ile26Asn)
n.311T>A
15g.52153956_52153959delinsATCCCA2177210941GNB5c.356_359delinsGGAT (p.Arg119=)
c.230_233delinsGGAT (p.Arg77=)
n.387_390delinsGGAT
c.74_77delinsGGAT (p.Arg25=)
n.308_311delinsGGAT
15g.52153957T>ACA392482553GNB5c.358A>T (p.Ile120Phe)
c.232A>T (p.Ile78Phe)
n.389A>T
c.76A>T (p.Ile26Phe)
n.310A>T
15g.52153957T>CCA392482556GNB5c.358A>G (p.Ile120Val)
c.232A>G (p.Ile78Val)
n.389A>G
c.76A>G (p.Ile26Val)
n.310A>G
 dbSNP
15g.52153957T>GCA392482557GNB5c.358A>C (p.Ile120Leu)
c.232A>C (p.Ile78Leu)
n.389A>C
c.76A>C (p.Ile26Leu)
n.310A>C
15g.52153957T=CA2177210944GNB5c.358A= (p.Ile120=)
c.232A= (p.Ile78=)
n.389A=
c.76A= (p.Ile26=)
n.310A=
15g.52153962_52153964delCA618025022GNB5c.356_358del (p.Arg119del)
c.230_232del (p.Arg77del)
n.387_389del
c.74_76del (p.Arg25del)
n.308_310del
 dbSNP gnomAD v2 gnomAD v4
15g.52153958C>ACA392482579GNB5c.357G>T (p.Arg119Ser)
c.231G>T (p.Arg77Ser)
n.388G>T
c.75G>T (p.Arg25Ser)
n.309G>T
 gnomAD v4
15g.52153958C=CA2177210950GNB5c.357G= (p.Arg119=)
c.231G= (p.Arg77=)
n.388G=
c.75G= (p.Arg25=)
n.309G=
15g.52153958C>GCA392482582GNB5c.357G>C (p.Arg119Ser)
c.231G>C (p.Arg77Ser)
n.388G>C
c.75G>C (p.Arg25Ser)
n.309G>C
15g.52153958C>TCA7565874GNB5c.357G>A (p.Arg119=)
c.231G>A (p.Arg77=)
n.388G>A
c.75G>A (p.Arg25=)
n.309G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.52153959C>ACA392482592GNB5c.356G>T (p.Arg119Met)
c.230G>T (p.Arg77Met)
n.387G>T
c.74G>T (p.Arg25Met)
n.308G>T
15g.52153959C>GCA392482593GNB5c.356G>C (p.Arg119Thr)
c.230G>C (p.Arg77Thr)
n.387G>C
c.74G>C (p.Arg25Thr)
n.308G>C
15g.52153959C>TCA392482594GNB5c.356G>A (p.Arg119Lys)
c.230G>A (p.Arg77Lys)
n.387G>A
c.74G>A (p.Arg25Lys)
n.308G>A
15g.52153960T>ACA392482597GNB5c.355A>T (p.Arg119Trp)
c.229A>T (p.Arg77Trp)
n.386A>T
c.73A>T (p.Arg25Trp)
n.307A>T
15g.52153960T>CCA392482596GNB5c.355A>G (p.Arg119Gly)
c.229A>G (p.Arg77Gly)
n.386A>G
c.73A>G (p.Arg25Gly)
n.307A>G
15g.52153960T>GCA490403679GNB5c.355A>C (p.Arg119=)
c.229A>C (p.Arg77=)
n.386A>C
c.73A>C (p.Arg25=)
n.307A>C
15g.52153961C>ACA392482600GNB5c.354G>T (p.Arg118Ser)
c.228G>T (p.Arg76Ser)
n.385G>T
c.72G>T (p.Arg24Ser)
n.306G>T
15g.52153961C>GCA392482612GNB5c.354G>C (p.Arg118Ser)
c.228G>C (p.Arg76Ser)
n.385G>C
c.72G>C (p.Arg24Ser)
n.306G>C
15g.52153961C>TCA490403680GNB5c.354G>A (p.Arg118=)
c.228G>A (p.Arg76=)
n.385G>A
c.72G>A (p.Arg24=)
n.306G>A
15g.52153962C>ACA392482627GNB5c.353G>T (p.Arg118Met)
c.227G>T (p.Arg76Met)
n.384G>T
c.71G>T (p.Arg24Met)
n.305G>T
 COSMIC
15g.52153962C=CA2177210956GNB5c.353G= (p.Arg118=)
c.227G= (p.Arg76=)
n.384G=
c.71G= (p.Arg24=)
n.305G=
15g.52153962C>GCA392482640GNB5c.353G>C (p.Arg118Thr)
c.227G>C (p.Arg76Thr)
n.384G>C
c.71G>C (p.Arg24Thr)
n.305G>C
15g.52153962C>TCA392482647GNB5c.353G>A (p.Arg118Lys)
c.227G>A (p.Arg76Lys)
n.384G>A
c.71G>A (p.Arg24Lys)
n.305G>A
 dbSNP gnomAD v3 gnomAD v4
15g.52153962_52153965delinsCTCTCA2177210954GNB5c.350_353delinsAGAG (p.Lys117=)
c.224_227delinsAGAG (p.Lys75=)
n.381_384delinsAGAG
c.68_71delinsAGAG (p.Lys23=)
n.302_305delinsAGAG
15g.52153962_52153967delinsCTCTTACA2177210955GNB5c.348_353delinsTAAGAG (p.Asp116=)
c.222_227delinsTAAGAG (p.Asp74=)
n.379_384delinsTAAGAG
c.66_71delinsTAAGAG (p.Asp22=)
n.300_305delinsTAAGAG
15g.52153963T>ACA392482650GNB5c.352A>T (p.Arg118Trp)
c.226A>T (p.Arg76Trp)
n.383A>T
c.70A>T (p.Arg24Trp)
n.304A>T
15g.52153963T>CCA392482652GNB5c.352A>G (p.Arg118Gly)
c.226A>G (p.Arg76Gly)
n.383A>G
c.70A>G (p.Arg24Gly)
n.304A>G
15g.52153963T>GCA490403681GNB5c.352A>C (p.Arg118=)
c.226A>C (p.Arg76=)
n.383A>C
c.70A>C (p.Arg24=)
n.304A>C
15g.52153964_52153966delCA7565875GNB5c.350_352del (p.Lys117del)
c.224_226del (p.Lys75del)
n.381_383del
c.68_70del (p.Lys23del)
n.302_304del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52153967_52153971delCA645293893GNB5c.348_352del (p.Asp116GlufsTer?)
c.222_226del (p.Asp74GlufsTer?)
n.379_383del
c.66_70del (p.Asp22GlufsTer?)
n.300_304del
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.52153964C>ACA392482663GNB5c.351G>T (p.Lys117Asn)
c.225G>T (p.Lys75Asn)
n.382G>T
c.69G>T (p.Lys23Asn)
n.303G>T
15g.52153964C=CA2177210968GNB5c.351G= (p.Lys117=)
c.225G= (p.Lys75=)
n.382G=
c.69G= (p.Lys23=)
n.303G=
15g.52153964C>GCA392482666GNB5c.351G>C (p.Lys117Asn)
c.225G>C (p.Lys75Asn)
n.382G>C
c.69G>C (p.Lys23Asn)
n.303G>C
15g.52153964C>TCA270649657GNB5c.351G>A (p.Lys117=)
c.225G>A (p.Lys75=)
n.382G>A
c.69G>A (p.Lys23=)
n.303G>A
 dbSNP gnomAD v3 gnomAD v4
15g.52153965T>ACA392482703GNB5c.350A>T (p.Lys117Met)
c.224A>T (p.Lys75Met)
n.381A>T
c.68A>T (p.Lys23Met)
n.302A>T
15g.52153965T>CCA392482688GNB5c.350A>G (p.Lys117Arg)
c.224A>G (p.Lys75Arg)
n.381A>G
c.68A>G (p.Lys23Arg)
n.302A>G
 gnomAD v4
15g.52153965T>GCA392482683GNB5c.350A>C (p.Lys117Thr)
c.224A>C (p.Lys75Thr)
n.381A>C
c.68A>C (p.Lys23Thr)
n.302A>C
 gnomAD v4
15g.52153966T>ACA392482709GNB5c.349A>T (p.Lys117Ter)
c.223A>T (p.Lys75Ter)
n.380A>T
c.67A>T (p.Lys23Ter)
n.301A>T
15g.52153966T>CCA392482714GNB5c.349A>G (p.Lys117Glu)
c.223A>G (p.Lys75Glu)
n.380A>G
c.67A>G (p.Lys23Glu)
n.301A>G
15g.52153966T>GCA392482718GNB5c.349A>C (p.Lys117Gln)
c.223A>C (p.Lys75Gln)
n.380A>C
c.67A>C (p.Lys23Gln)
n.301A>C
15g.52153967A>CCA392482727GNB5c.348T>G (p.Asp116Glu)
c.222T>G (p.Asp74Glu)
n.379T>G
c.66T>G (p.Asp22Glu)
n.300T>G
15g.52153967A>GCA490403682GNB5c.348T>C (p.Asp116=)
c.222T>C (p.Asp74=)
n.379T>C
c.66T>C (p.Asp22=)
n.300T>C
 gnomAD v4
15g.52153967A>TCA392482737GNB5c.348T>A (p.Asp116Glu)
c.222T>A (p.Asp74Glu)
n.379T>A
c.66T>A (p.Asp22Glu)
n.300T>A
 gnomAD v4
15g.52153968T>ACA392482743GNB5c.347A>T (p.Asp116Val)
c.221A>T (p.Asp74Val)
n.378A>T
c.65A>T (p.Asp22Val)
n.299A>T
15g.52153968T>CCA392482744GNB5c.347A>G (p.Asp116Gly)
c.221A>G (p.Asp74Gly)
n.378A>G
c.65A>G (p.Asp22Gly)
n.299A>G
15g.52153968T>GCA392482745GNB5c.347A>C (p.Asp116Ala)
c.221A>C (p.Asp74Ala)
n.378A>C
c.65A>C (p.Asp22Ala)
n.299A>C
15g.52153969C>ACA392482747GNB5c.346G>T (p.Asp116Tyr)
c.220G>T (p.Asp74Tyr)
n.377G>T
c.64G>T (p.Asp22Tyr)
n.298G>T
15g.52153969C>GCA392482751GNB5c.346G>C (p.Asp116His)
c.220G>C (p.Asp74His)
n.377G>C
c.64G>C (p.Asp22His)
n.298G>C
15g.52153969C>TCA392482755GNB5c.346G>A (p.Asp116Asn)
c.220G>A (p.Asp74Asn)
n.377G>A
c.64G>A (p.Asp22Asn)
n.298G>A
15g.52153970T>ACA392482760GNB5c.345A>T (p.Lys115Asn)
c.219A>T (p.Lys73Asn)
n.376A>T
c.63A>T (p.Lys21Asn)
n.297A>T
15g.52153970T>CCA490403683GNB5c.345A>G (p.Lys115=)
c.219A>G (p.Lys73=)
n.376A>G
c.63A>G (p.Lys21=)
n.297A>G
 gnomAD v4
15g.52153970T>GCA392482761GNB5c.345A>C (p.Lys115Asn)
c.219A>C (p.Lys73Asn)
n.376A>C
c.63A>C (p.Lys21Asn)
n.297A>C
15g.52153971T>ACA392482762GNB5c.344A>T (p.Lys115Ile)
c.218A>T (p.Lys73Ile)
n.375A>T
c.62A>T (p.Lys21Ile)
n.296A>T
15g.52153971T>CCA392482763GNB5c.344A>G (p.Lys115Arg)
c.218A>G (p.Lys73Arg)
n.375A>G
c.62A>G (p.Lys21Arg)
n.296A>G
 COSMIC
15g.52153971T>GCA7565876GNB5c.344A>C (p.Lys115Thr)
c.218A>C (p.Lys73Thr)
n.375A>C
c.62A>C (p.Lys21Thr)
n.296A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52153971T=CA2177210971GNB5c.344A= (p.Lys115=)
c.218A= (p.Lys73=)
n.375A=
c.62A= (p.Lys21=)
n.296A=
15g.52153972T>ACA392482765GNB5c.343A>T (p.Lys115Ter)
c.217A>T (p.Lys73Ter)
n.374A>T
c.61A>T (p.Lys21Ter)
n.295A>T
15g.52153972T>CCA392482768GNB5c.343A>G (p.Lys115Glu)
c.217A>G (p.Lys73Glu)
n.374A>G
c.61A>G (p.Lys21Glu)
n.295A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.52153972T>GCA392482774GNB5c.343A>C (p.Lys115Gln)
c.217A>C (p.Lys73Gln)
n.374A>C
c.61A>C (p.Lys21Gln)
n.295A>C
 gnomAD v4
15g.52153972T=CA2177210973GNB5c.343A= (p.Lys115=)
c.217A= (p.Lys73=)
n.374A=
c.61A= (p.Lys21=)
n.295A=
15g.52153973G>ACA490403684GNB5c.342C>T (p.Cys114=)
c.216C>T (p.Cys72=)
n.373C>T
c.60C>T (p.Cys20=)
n.294C>T
15g.52153973G>CCA392482777GNB5c.342C>G (p.Cys114Trp)
c.216C>G (p.Cys72Trp)
n.373C>G
c.60C>G (p.Cys20Trp)
n.294C>G
15g.52153973G>TCA392482784GNB5c.342C>A (p.Cys114Ter)
c.216C>A (p.Cys72Ter)
n.373C>A
c.60C>A (p.Cys20Ter)
n.294C>A
15g.52153974C>ACA392482791GNB5c.341G>T (p.Cys114Phe)
c.215G>T (p.Cys72Phe)
n.372G>T
c.59G>T (p.Cys20Phe)
n.293G>T
15g.52153974C=CA2177210976GNB5c.341G= (p.Cys114=)
c.215G= (p.Cys72=)
n.372G=
c.59G= (p.Cys20=)
n.293G=
15g.52153974C>GCA392482792GNB5c.341G>C (p.Cys114Ser)
c.215G>C (p.Cys72Ser)
n.372G>C
c.59G>C (p.Cys20Ser)
n.293G>C
15g.52153974C>TCA392482793GNB5c.341G>A (p.Cys114Tyr)
c.215G>A (p.Cys72Tyr)
n.372G>A
c.59G>A (p.Cys20Tyr)
n.293G>A
 dbSNP gnomAD v3 gnomAD v4
15g.52153975A=CA2177210983GNB5c.340T= (p.Cys114=)
c.214T= (p.Cys72=)
n.371T=
c.58T= (p.Cys20=)
n.292T=
15g.52153975A>CCA392482795GNB5c.340T>G (p.Cys114Gly)
c.214T>G (p.Cys72Gly)
n.371T>G
c.58T>G (p.Cys20Gly)
n.292T>G
15g.52153975A>GCA392482799GNB5c.340T>C (p.Cys114Arg)
c.214T>C (p.Cys72Arg)
n.371T>C
c.58T>C (p.Cys20Arg)
n.292T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.52153975A>TCA392482806GNB5c.340T>A (p.Cys114Ser)
c.214T>A (p.Cys72Ser)
n.371T>A
c.58T>A (p.Cys20Ser)
n.292T>A
15g.52153976C>ACA392482829GNB5c.339G>T (p.Trp113Cys)
c.213G>T (p.Trp71Cys)
n.370G>T
c.57G>T (p.Trp19Cys)
n.291G>T
15g.52153976C=CA2177210987GNB5c.339G= (p.Trp113=)
c.213G= (p.Trp71=)
n.370G=
c.57G= (p.Trp19=)
n.291G=
15g.52153976C>GCA7565877GNB5c.339G>C (p.Trp113Cys)
c.213G>C (p.Trp71Cys)
n.370G>C
c.57G>C (p.Trp19Cys)
n.291G>C
 dbSNP ExAC gnomAD v2
15g.52153976C>TCA392482814GNB5c.339G>A (p.Trp113Ter)
c.213G>A (p.Trp71Ter)
n.370G>A
c.57G>A (p.Trp19Ter)
n.291G>A
15g.52153977delCA2628513919GNB5c.339del (p.Trp113CysfsTer9)
c.213del (p.Trp71CysfsTer9)
n.370del
c.57del (p.Trp19CysfsTer9)
n.291del
 gnomAD v4
15g.52153977C>ACA392482859GNB5c.338G>T (p.Trp113Leu)
c.212G>T (p.Trp71Leu)
n.369G>T
c.56G>T (p.Trp19Leu)
n.290G>T
15g.52153977C>GCA392482843GNB5c.338G>C (p.Trp113Ser)
c.212G>C (p.Trp71Ser)
n.369G>C
c.56G>C (p.Trp19Ser)
n.290G>C
15g.52153977C>TCA392482858GNB5c.338G>A (p.Trp113Ter)
c.212G>A (p.Trp71Ter)
n.369G>A
c.56G>A (p.Trp19Ter)
n.290G>A
 gnomAD v4
15g.52153978A=CA2177210992GNB5c.337T= (p.Trp113=)
c.211T= (p.Trp71=)
n.368T=
c.55T= (p.Trp19=)
n.289T=
15g.52153978A>CCA392482860GNB5c.337T>G (p.Trp113Gly)
c.211T>G (p.Trp71Gly)
n.368T>G
c.55T>G (p.Trp19Gly)
n.289T>G
15g.52153978A>GCA7565878GNB5c.337T>C (p.Trp113Arg)
c.211T>C (p.Trp71Arg)
n.368T>C
c.55T>C (p.Trp19Arg)
n.289T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.52153978A>TCA392482868GNB5c.337T>A (p.Trp113Arg)
c.211T>A (p.Trp71Arg)
n.368T>A
c.55T>A (p.Trp19Arg)
n.289T>A
15g.52153979G>ACA7565879GNB5c.336C>T (p.Asp112=)
c.210C>T (p.Asp70=)
n.367C>T
c.54C>T (p.Asp18=)
n.288C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52153979G>CCA392482882GNB5c.336C>G (p.Asp112Glu)
c.210C>G (p.Asp70Glu)
n.367C>G
c.54C>G (p.Asp18Glu)
n.288C>G
15g.52153979G=CA2177210998GNB5c.336C= (p.Asp112=)
c.210C= (p.Asp70=)
n.367C=
c.54C= (p.Asp18=)
n.288C=
15g.52153979G>TCA392482872GNB5c.336C>A (p.Asp112Glu)
c.210C>A (p.Asp70Glu)
n.367C>A
c.54C>A (p.Asp18Glu)
n.288C>A
 dbSNP
15g.52153980T>ACA392482888GNB5c.335A>T (p.Asp112Val)
c.209A>T (p.Asp70Val)
n.366A>T
c.53A>T (p.Asp18Val)
n.287A>T
15g.52153980T>CCA392482889GNB5c.335A>G (p.Asp112Gly)
c.209A>G (p.Asp70Gly)
n.366A>G
c.53A>G (p.Asp18Gly)
n.287A>G
15g.52153980T>GCA392482892GNB5c.335A>C (p.Asp112Ala)
c.209A>C (p.Asp70Ala)
n.366A>C
c.53A>C (p.Asp18Ala)
n.287A>C
15g.52153981C>ACA392482909GNB5c.334G>T (p.Asp112Tyr)
c.208G>T (p.Asp70Tyr)
n.365G>T
c.52G>T (p.Asp18Tyr)
n.286G>T
15g.52153981C>GCA392482910GNB5c.334G>C (p.Asp112His)
c.208G>C (p.Asp70His)
n.365G>C
c.52G>C (p.Asp18His)
n.286G>C
15g.52153981C>TCA392482919GNB5c.334G>A (p.Asp112Asn)
c.208G>A (p.Asp70Asn)
n.365G>A
c.52G>A (p.Asp18Asn)
n.286G>A
 gnomAD v4
15g.52153982C>ACA392482923GNB5c.333G>T (p.Met111Ile)
c.207G>T (p.Met69Ile)
n.364G>T
c.51G>T (p.Met17Ile)
n.285G>T
15g.52153982C>GCA392482932GNB5c.333G>C (p.Met111Ile)
c.207G>C (p.Met69Ile)
n.364G>C
c.51G>C (p.Met17Ile)
n.285G>C
15g.52153982C>TCA392482925GNB5c.333G>A (p.Met111Ile)
c.207G>A (p.Met69Ile)
n.364G>A
c.51G>A (p.Met17Ile)
n.285G>A
15g.52153983A>CCA392482937GNB5c.332T>G (p.Met111Arg)
c.206T>G (p.Met69Arg)
n.363T>G
c.50T>G (p.Met17Arg)
n.284T>G
15g.52153983A>GCA392482938GNB5c.332T>C (p.Met111Thr)
c.206T>C (p.Met69Thr)
n.363T>C
c.50T>C (p.Met17Thr)
n.284T>C
15g.52153983A>TCA392482939GNB5c.332T>A (p.Met111Lys)
c.206T>A (p.Met69Lys)
n.363T>A
c.50T>A (p.Met17Lys)
n.284T>A
15g.52153984T>ACA392482941GNB5c.331A>T (p.Met111Leu)
c.205A>T (p.Met69Leu)
n.362A>T
c.49A>T (p.Met17Leu)
n.283A>T
15g.52153984T>CCA7565880GNB5c.331A>G (p.Met111Val)
c.205A>G (p.Met69Val)
n.362A>G
c.49A>G (p.Met17Val)
n.283A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.52153984T>GCA392482948GNB5c.331A>C (p.Met111Leu)
c.205A>C (p.Met69Leu)
n.362A>C
c.49A>C (p.Met17Leu)
n.283A>C
15g.52153984T=CA2177211001GNB5c.331A= (p.Met111=)
c.205A= (p.Met69=)
n.362A=
c.49A= (p.Met17=)
n.283A=
15g.52153985G>ACA490403685GNB5c.330C>T (p.Cys110=)
c.204C>T (p.Cys68=)
n.361C>T
c.48C>T (p.Cys16=)
n.282C>T
 dbSNP gnomAD v4
15g.52153985G>CCA392482956GNB5c.330C>G (p.Cys110Trp)
c.204C>G (p.Cys68Trp)
n.361C>G
c.48C>G (p.Cys16Trp)
n.282C>G
15g.52153985G=CA2177211005GNB5c.330C= (p.Cys110=)
c.204C= (p.Cys68=)
n.361C=
c.48C= (p.Cys16=)
n.282C=
15g.52153985G>TCA392482971GNB5c.330C>A (p.Cys110Ter)
c.204C>A (p.Cys68Ter)
n.361C>A
c.48C>A (p.Cys16Ter)
n.282C>A
15g.52153986C>ACA392482998GNB5c.329G>T (p.Cys110Phe)
c.203G>T (p.Cys68Phe)
n.360G>T
c.47G>T (p.Cys16Phe)
n.281G>T
15g.52153986C>GCA392483000GNB5c.329G>C (p.Cys110Ser)
c.203G>C (p.Cys68Ser)
n.360G>C
c.47G>C (p.Cys16Ser)
n.281G>C
15g.52153986C>TCA392483002GNB5c.329G>A (p.Cys110Tyr)
c.203G>A (p.Cys68Tyr)
n.360G>A
c.47G>A (p.Cys16Tyr)
n.281G>A
15g.52153987A>CCA392483024GNB5c.328T>G (p.Cys110Gly)
c.202T>G (p.Cys68Gly)
n.359T>G
c.46T>G (p.Cys16Gly)
n.280T>G
 gnomAD v4
15g.52153987A>GCA392483019GNB5c.328T>C (p.Cys110Arg)
c.202T>C (p.Cys68Arg)
n.359T>C
c.46T>C (p.Cys16Arg)
n.280T>C
15g.52153987A>TCA392483011GNB5c.328T>A (p.Cys110Ser)
c.202T>A (p.Cys68Ser)
n.359T>A
c.46T>A (p.Cys16Ser)
n.280T>A
15g.52153988C>ACA490403686GNB5c.327G>T (p.Leu109=)
c.201G>T (p.Leu67=)
n.358G>T
c.45G>T (p.Leu15=)
n.279G>T
15g.52153988C=CA2177211008GNB5c.327G= (p.Leu109=)
c.201G= (p.Leu67=)
n.358G=
c.45G= (p.Leu15=)
n.279G=
15g.52153988C>GCA490403687GNB5c.327G>C (p.Leu109=)
c.201G>C (p.Leu67=)
n.358G>C
c.45G>C (p.Leu15=)
n.279G>C
15g.52153988C>TCA7565881GNB5c.327G>A (p.Leu109=)
c.201G>A (p.Leu67=)
n.358G>A
c.45G>A (p.Leu15=)
n.279G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.52153989A=CA2177211011GNB5c.326T= (p.Leu109=)
c.200T= (p.Leu67=)
n.357T=
c.44T= (p.Leu15=)
n.278T=
15g.52153989A>CCA392483026GNB5c.326T>G (p.Leu109Arg)
c.200T>G (p.Leu67Arg)
n.357T>G
c.44T>G (p.Leu15Arg)
n.278T>G
15g.52153989A>GCA392483032GNB5c.326T>C (p.Leu109Pro)
c.200T>C (p.Leu67Pro)
n.357T>C
c.44T>C (p.Leu15Pro)
n.278T>C
15g.52153989A>TCA270649678GNB5c.326T>A (p.Leu109Gln)
c.200T>A (p.Leu67Gln)
n.357T>A
c.44T>A (p.Leu15Gln)
n.278T>A
 dbSNP gnomAD v4
15g.52153990G>ACA490403688GNB5c.325C>T (p.Leu109=)
c.199C>T (p.Leu67=)
n.356C>T
c.43C>T (p.Leu15=)
n.277C>T
 gnomAD v4
15g.52153990G>CCA392483036GNB5c.325C>G (p.Leu109Val)
c.199C>G (p.Leu67Val)
n.356C>G
c.43C>G (p.Leu15Val)
n.277C>G
15g.52153990G>TCA392483038GNB5c.325C>A (p.Leu109Met)
c.199C>A (p.Leu67Met)
n.356C>A
c.43C>A (p.Leu15Met)
n.277C>A
15g.52153991G>ACA490403689GNB5c.324C>T (p.Val108=)
c.198C>T (p.Val66=)
n.355C>T
c.42C>T (p.Val14=)
n.276C>T
 gnomAD v4
15g.52153991G>CCA490403690GNB5c.324C>G (p.Val108=)
c.198C>G (p.Val66=)
n.355C>G
c.42C>G (p.Val14=)
n.276C>G
15g.52153991G>TCA490403691GNB5c.324C>A (p.Val108=)
c.198C>A (p.Val66=)
n.355C>A
c.42C>A (p.Val14=)
n.276C>A
15g.52153992A>CCA392483068GNB5c.323T>G (p.Val108Gly)
c.197T>G (p.Val66Gly)
n.354T>G
c.41T>G (p.Val14Gly)
n.275T>G
15g.52153992A>GCA392483054GNB5c.323T>C (p.Val108Ala)
c.197T>C (p.Val66Ala)
n.354T>C
c.41T>C (p.Val14Ala)
n.275T>C
15g.52153992A>TCA392483062GNB5c.323T>A (p.Val108Asp)
c.197T>A (p.Val66Asp)
n.354T>A
c.41T>A (p.Val14Asp)
n.275T>A
15g.52153993C>ACA392483075GNB5c.322G>T (p.Val108Phe)
c.196G>T (p.Val66Phe)
n.353G>T
c.40G>T (p.Val14Phe)
n.274G>T
15g.52153993C>GCA392483077GNB5c.322G>C (p.Val108Leu)
c.196G>C (p.Val66Leu)
n.353G>C
c.40G>C (p.Val14Leu)
n.274G>C
15g.52153993C>TCA392483079GNB5c.322G>A (p.Val108Ile)
c.196G>A (p.Val66Ile)
n.353G>A
c.40G>A (p.Val14Ile)
n.274G>A
15g.52153994T>ACA392483094GNB5c.321A>T (p.Lys107Asn)
c.195A>T (p.Lys65Asn)
n.352A>T
c.39A>T (p.Lys13Asn)
n.273A>T
15g.52153994T>CCA490403692GNB5c.321A>G (p.Lys107=)
c.195A>G (p.Lys65=)
n.352A>G
c.39A>G (p.Lys13=)
n.273A>G
15g.52153994T>GCA392483095GNB5c.321A>C (p.Lys107Asn)
c.195A>C (p.Lys65Asn)
n.352A>C
c.39A>C (p.Lys13Asn)
n.273A>C
15g.52153996delCA2628513923GNB5c.321del (p.Val108SerfsTer14)
c.195del (p.Val66SerfsTer14)
n.352del
c.39del (p.Val14SerfsTer14)
n.273del
 gnomAD v4
15g.52153995T>ACA392483096GNB5c.320A>T (p.Lys107Ile)
c.194A>T (p.Lys65Ile)
n.351A>T
c.38A>T (p.Lys13Ile)
n.272A>T
15g.52153995T>CCA392483111GNB5c.320A>G (p.Lys107Arg)
c.194A>G (p.Lys65Arg)
n.351A>G
c.38A>G (p.Lys13Arg)
n.272A>G
15g.52153995T>GCA392483100GNB5c.320A>C (p.Lys107Thr)
c.194A>C (p.Lys65Thr)
n.351A>C
c.38A>C (p.Lys13Thr)
n.272A>C
15g.52153996T>ACA392483117GNB5c.319A>T (p.Lys107Ter)
c.193A>T (p.Lys65Ter)
n.350A>T
c.37A>T (p.Lys13Ter)
n.271A>T
15g.52153996T>CCA392483122GNB5c.319A>G (p.Lys107Glu)
c.193A>G (p.Lys65Glu)
n.350A>G
c.37A>G (p.Lys13Glu)
n.271A>G
15g.52153996T>GCA392483125GNB5c.319A>C (p.Lys107Gln)
c.193A>C (p.Lys65Gln)
n.350A>C
c.37A>C (p.Lys13Gln)
n.271A>C
 gnomAD v4
15g.52153997G>ACA490403693GNB5c.318C>T (p.Asn106=)
c.192C>T (p.Asn64=)
n.349C>T
c.36C>T (p.Asn12=)
n.270C>T
 dbSNP
15g.52153997G>CCA392483130GNB5c.318C>G (p.Asn106Lys)
c.192C>G (p.Asn64Lys)
n.349C>G
c.36C>G (p.Asn12Lys)
n.270C>G
15g.52153997G>TCA392483136GNB5c.318C>A (p.Asn106Lys)
c.192C>A (p.Asn64Lys)
n.349C>A
c.36C>A (p.Asn12Lys)
n.270C>A
15g.52153998T>ACA392483137GNB5c.317A>T (p.Asn106Ile)
c.191A>T (p.Asn64Ile)
n.348A>T
c.35A>T (p.Asn12Ile)
n.269A>T
15g.52153998T>CCA392483142GNB5c.317A>G (p.Asn106Ser)
c.191A>G (p.Asn64Ser)
n.348A>G
c.35A>G (p.Asn12Ser)
n.269A>G
 dbSNP gnomAD v3 gnomAD v4
15g.52153998T>GCA392483147GNB5c.317A>C (p.Asn106Thr)
c.191A>C (p.Asn64Thr)
n.348A>C
c.35A>C (p.Asn12Thr)
n.269A>C
15g.52153998T=CA2177211014GNB5c.317A= (p.Asn106=)
c.191A= (p.Asn64=)
n.348A=
c.35A= (p.Asn12=)
n.269A=
15g.52153999T>ACA392483158GNB5c.316A>T (p.Asn106Tyr)
c.190A>T (p.Asn64Tyr)
n.347A>T
c.34A>T (p.Asn12Tyr)
n.268A>T
15g.52153999T>CCA392483165GNB5c.316A>G (p.Asn106Asp)
c.190A>G (p.Asn64Asp)
n.347A>G
c.34A>G (p.Asn12Asp)
n.268A>G
15g.52153999T>GCA392483184GNB5c.316A>C (p.Asn106His)
c.190A>C (p.Asn64His)
n.347A>C
c.34A>C (p.Asn12His)
n.268A>C
15g.52154000C>ACA490403694GNB5c.315G>T (p.Gly105=)
c.189G>T (p.Gly63=)
n.346G>T
c.33G>T (p.Gly11=)
n.267G>T
 dbSNP gnomAD v2 gnomAD v4
15g.52154000C=CA2177211019GNB5c.315G= (p.Gly105=)
c.189G= (p.Gly63=)
n.346G=
c.33G= (p.Gly11=)
n.267G=
15g.52154000C>GCA490403695GNB5c.315G>C (p.Gly105=)
c.189G>C (p.Gly63=)
n.346G>C
c.33G>C (p.Gly11=)
n.267G>C
 dbSNP
15g.52154000C>TCA490403696GNB5c.315G>A (p.Gly105=)
c.189G>A (p.Gly63=)
n.346G>A
c.33G>A (p.Gly11=)
n.267G>A
15g.52154001C>ACA392483189GNB5c.314G>T (p.Gly105Val)
c.188G>T (p.Gly63Val)
n.345G>T
c.32G>T (p.Gly11Val)
n.266G>T
15g.52154001C>GCA392483193GNB5c.314G>C (p.Gly105Ala)
c.188G>C (p.Gly63Ala)
n.345G>C
c.32G>C (p.Gly11Ala)
n.266G>C
15g.52154001C>TCA392483191GNB5c.314G>A (p.Gly105Glu)
c.188G>A (p.Gly63Glu)
n.345G>A
c.32G>A (p.Gly11Glu)
n.266G>A
15g.52154002C>ACA392483195GNB5c.313G>T (p.Gly105Trp)
c.187G>T (p.Gly63Trp)
n.344G>T
c.31G>T (p.Gly11Trp)
n.265G>T
 dbSNP
15g.52154002C=CA2177211021GNB5c.313G= (p.Gly105=)
c.187G= (p.Gly63=)
n.344G=
c.31G= (p.Gly11=)
n.265G=
15g.52154002C>GCA392483199GNB5c.313G>C (p.Gly105Arg)
c.187G>C (p.Gly63Arg)
n.344G>C
c.31G>C (p.Gly11Arg)
n.265G>C
15g.52154002C>TCA392483197GNB5c.313G>A (p.Gly105Arg)
c.187G>A (p.Gly63Arg)
n.344G>A
c.31G>A (p.Gly11Arg)
n.265G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.52154003G>ACA7565882GNB5c.312C>T (p.His104=)
c.186C>T (p.His62=)
n.343C>T
c.30C>T (p.His10=)
n.264C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.52154003G>CCA392483209GNB5c.312C>G (p.His104Gln)
c.186C>G (p.His62Gln)
n.343C>G
c.30C>G (p.His10Gln)
n.264C>G
 dbSNP
15g.52154003G=CA2177211024GNB5c.312C= (p.His104=)
c.186C= (p.His62=)
n.343C=
c.30C= (p.His10=)
n.264C=
15g.52154003G>TCA392483205GNB5c.312C>A (p.His104Gln)
c.186C>A (p.His62Gln)
n.343C>A
c.30C>A (p.His10Gln)
n.264C>A
15g.52154004T>ACA392483221GNB5c.311A>T (p.His104Leu)
c.185A>T (p.His62Leu)
n.342A>T
c.29A>T (p.His10Leu)
n.263A>T
15g.52154004T>CCA392483227GNB5c.311A>G (p.His104Arg)
c.185A>G (p.His62Arg)
n.342A>G
c.29A>G (p.His10Arg)
n.263A>G
 gnomAD v4
15g.52154004T>GCA392483223GNB5c.311A>C (p.His104Pro)
c.185A>C (p.His62Pro)
n.342A>C
c.29A>C (p.His10Pro)
n.263A>C
15g.52154005G>ACA392483233GNB5c.310C>T (p.His104Tyr)
c.184C>T (p.His62Tyr)
n.341C>T
c.28C>T (p.His10Tyr)
n.262C>T
15g.52154005G>CCA392483242GNB5c.310C>G (p.His104Asp)
c.184C>G (p.His62Asp)
n.341C>G
c.28C>G (p.His10Asp)
n.262C>G
15g.52154005G>TCA392483236GNB5c.310C>A (p.His104Asn)
c.184C>A (p.His62Asn)
n.341C>A
c.28C>A (p.His10Asn)
n.262C>A
15g.52154006G>ACA490403697GNB5c.309C>T (p.Gly103=)
c.183C>T (p.Gly61=)
n.340C>T
c.27C>T (p.Gly9=)
n.261C>T
15g.52154006G>CCA490403698GNB5c.309C>G (p.Gly103=)
c.183C>G (p.Gly61=)
n.340C>G
c.27C>G (p.Gly9=)
n.261C>G
15g.52154006G>TCA490403699GNB5c.309C>A (p.Gly103=)
c.183C>A (p.Gly61=)
n.340C>A
c.27C>A (p.Gly9=)
n.261C>A
15g.52154007C>ACA392483249GNB5c.308G>T (p.Gly103Val)
c.182G>T (p.Gly61Val)
n.339G>T
c.26G>T (p.Gly9Val)
n.260G>T
15g.52154007C>GCA392483254GNB5c.308G>C (p.Gly103Ala)
c.182G>C (p.Gly61Ala)
n.339G>C
c.26G>C (p.Gly9Ala)
n.260G>C
15g.52154007C>TCA392483251GNB5c.308G>A (p.Gly103Asp)
c.182G>A (p.Gly61Asp)
n.339G>A
c.26G>A (p.Gly9Asp)
n.260G>A
15g.52154008C>ACA392483257GNB5c.307G>T (p.Gly103Cys)
c.181G>T (p.Gly61Cys)
n.338G>T
c.25G>T (p.Gly9Cys)
n.259G>T
15g.52154008C>GCA392483258GNB5c.307G>C (p.Gly103Arg)
c.181G>C (p.Gly61Arg)
n.338G>C
c.25G>C (p.Gly9Arg)
n.259G>C
15g.52154008C>TCA392483259GNB5c.307G>A (p.Gly103Ser)
c.181G>A (p.Gly61Ser)
n.338G>A
c.25G>A (p.Gly9Ser)
n.259G>A
15g.52154009T>ACA392483262GNB5c.306A>T (p.Lys102Asn)
c.180A>T (p.Lys60Asn)
n.337A>T
c.24A>T (p.Lys8Asn)
n.258A>T
15g.52154009T>CCA490403700GNB5c.306A>G (p.Lys102=)
c.180A>G (p.Lys60=)
n.337A>G
c.24A>G (p.Lys8=)
n.258A>G
15g.52154009T>GCA392483264GNB5c.306A>C (p.Lys102Asn)
c.180A>C (p.Lys60Asn)
n.337A>C
c.24A>C (p.Lys8Asn)
n.258A>C
15g.52154011delCA2628513926GNB5c.306del (p.Gly103AlafsTer19)
c.180del (p.Gly61AlafsTer19)
n.337del
c.24del (p.Gly9AlafsTer19)
n.258del
 gnomAD v4
15g.52154010T>ACA392483273GNB5c.305A>T (p.Lys102Ile)
c.179A>T (p.Lys60Ile)
n.336A>T
c.23A>T (p.Lys8Ile)
n.257A>T
15g.52154010T>CCA392483278GNB5c.305A>G (p.Lys102Arg)
c.179A>G (p.Lys60Arg)
n.336A>G
c.23A>G (p.Lys8Arg)
n.257A>G
 gnomAD v4
15g.52154010T>GCA392483282GNB5c.305A>C (p.Lys102Thr)
c.179A>C (p.Lys60Thr)
n.336A>C
c.23A>C (p.Lys8Thr)
n.257A>C
15g.52154011T>ACA392483285GNB5c.304A>T (p.Lys102Ter)
c.178A>T (p.Lys60Ter)
n.335A>T
c.22A>T (p.Lys8Ter)
n.256A>T
15g.52154011T>CCA392483291GNB5c.304A>G (p.Lys102Glu)
c.178A>G (p.Lys60Glu)
n.335A>G
c.22A>G (p.Lys8Glu)
n.256A>G
15g.52154011T>GCA270649687GNB5c.304A>C (p.Lys102Gln)
c.178A>C (p.Lys60Gln)
n.335A>C
c.22A>C (p.Lys8Gln)
n.256A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.52154011T=CA2177211029GNB5c.304A= (p.Lys102=)
c.178A= (p.Lys60=)
n.335A=
c.22A= (p.Lys8=)
n.256A=
15g.52154012G>ACA490403701GNB5c.303C>T (p.Leu101=)
c.177C>T (p.Leu59=)
n.334C>T
c.21C>T (p.Leu7=)
n.255C>T
15g.52154012G>CCA490403702GNB5c.303C>G (p.Leu101=)
c.177C>G (p.Leu59=)
n.334C>G
c.21C>G (p.Leu7=)
n.255C>G
 gnomAD v4
15g.52154012G>TCA490403703GNB5c.303C>A (p.Leu101=)
c.177C>A (p.Leu59=)
n.334C>A
c.21C>A (p.Leu7=)
n.255C>A
15g.52154013A>CCA392483320GNB5c.302T>G (p.Leu101Arg)
c.176T>G (p.Leu59Arg)
n.333T>G
c.20T>G (p.Leu7Arg)
n.254T>G
15g.52154013A>GCA392483309GNB5c.302T>C (p.Leu101Pro)
c.176T>C (p.Leu59Pro)
n.333T>C
c.20T>C (p.Leu7Pro)
n.254T>C
15g.52154013A>TCA392483316GNB5c.302T>A (p.Leu101His)
c.176T>A (p.Leu59His)
n.333T>A
c.20T>A (p.Leu7His)
n.254T>A
15g.52154014G>ACA392483327GNB5c.301C>T (p.Leu101Phe)
c.175C>T (p.Leu59Phe)
n.332C>T
c.19C>T (p.Leu7Phe)
n.253C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.52154014G>CCA392483330GNB5c.301C>G (p.Leu101Val)
c.175C>G (p.Leu59Val)
n.332C>G
c.19C>G (p.Leu7Val)
n.253C>G
 gnomAD v4
15g.52154014G=CA2177211032GNB5c.301C= (p.Leu101=)
c.175C= (p.Leu59=)
n.332C=
c.19C= (p.Leu7=)
n.253C=
15g.52154014G>TCA392483331GNB5c.301C>A (p.Leu101Ile)
c.175C>A (p.Leu59Ile)
n.332C>A
c.19C>A (p.Leu7Ile)
n.253C>A
15g.52154015G>ACA490403704GNB5c.300C>T (p.Thr100=)
c.174C>T (p.Thr58=)
n.331C>T
c.18C>T (p.Thr6=)
n.252C>T
 gnomAD v4
15g.52154015G>CCA490403705GNB5c.300C>G (p.Thr100=)
c.174C>G (p.Thr58=)
n.331C>G
c.18C>G (p.Thr6=)
n.252C>G
15g.52154015G=CA2177211036GNB5c.300C= (p.Thr100=)
c.174C= (p.Thr58=)
n.331C=
c.18C= (p.Thr6=)
n.252C=
15g.52154015G>TCA7565883GNB5c.300C>A (p.Thr100=)
c.174C>A (p.Thr58=)
n.331C>A
c.18C>A (p.Thr6=)
n.252C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.52154016G>ACA392483333GNB5c.299C>T (p.Thr100Ile)
c.173C>T (p.Thr58Ile)
n.330C>T
c.17C>T (p.Thr6Ile)
n.251C>T
 gnomAD v4
15g.52154016G>CCA392483341GNB5c.299C>G (p.Thr100Ser)
c.173C>G (p.Thr58Ser)
n.330C>G
c.17C>G (p.Thr6Ser)
n.251C>G
15g.52154016G=CA2177211043GNB5c.299C= (p.Thr100=)
c.173C= (p.Thr58=)
n.330C=
c.17C= (p.Thr6=)
n.251C=
15g.52154016G>TCA392483345GNB5c.299C>A (p.Thr100Asn)
c.173C>A (p.Thr58Asn)
n.330C>A
c.17C>A (p.Thr6Asn)
n.251C>A
 dbSNP gnomAD v2 gnomAD v4
15g.52154017T>ACA392483351GNB5c.298A>T (p.Thr100Ser)
c.172A>T (p.Thr58Ser)
n.329A>T
c.16A>T (p.Thr6Ser)
n.250A>T
15g.52154017T>CCA392483353GNB5c.298A>G (p.Thr100Ala)
c.172A>G (p.Thr58Ala)
n.329A>G
c.16A>G (p.Thr6Ala)
n.250A>G
15g.52154017T>GCA392483356GNB5c.298A>C (p.Thr100Pro)
c.172A>C (p.Thr58Pro)
n.329A>C
c.16A>C (p.Thr6Pro)
n.250A>C
15g.52154018C>ACA392483362GNB5c.297G>T (p.Arg99Ser)
c.171G>T (p.Arg57Ser)
n.328G>T
c.15G>T (p.Arg5Ser)
n.249G>T
15g.52154018C>GCA392483360GNB5c.297G>C (p.Arg99Ser)
c.171G>C (p.Arg57Ser)
n.328G>C
c.15G>C (p.Arg5Ser)
n.249G>C
15g.52154018C>TCA490403706GNB5c.297G>A (p.Arg99=)
c.171G>A (p.Arg57=)
n.328G>A
c.15G>A (p.Arg5=)
n.249G>A
15g.52154019C>ACA392483364GNB5c.296G>T (p.Arg99Met)
c.170G>T (p.Arg57Met)
n.327G>T
c.14G>T (p.Arg5Met)
n.248G>T
15g.52154019C>GCA392483365GNB5c.296G>C (p.Arg99Thr)
c.170G>C (p.Arg57Thr)
n.327G>C
c.14G>C (p.Arg5Thr)
n.248G>C
15g.52154019C>TCA392483370GNB5c.296G>A (p.Arg99Lys)
c.170G>A (p.Arg57Lys)
n.327G>A
c.14G>A (p.Arg5Lys)
n.248G>A
 gnomAD v4
15g.52154020T>ACA392483379GNB5c.295A>T (p.Arg99Trp)
c.169A>T (p.Arg57Trp)
n.326A>T
c.13A>T (p.Arg5Trp)
n.247A>T
15g.52154020T>CCA392483385GNB5c.295A>G (p.Arg99Gly)
c.169A>G (p.Arg57Gly)
n.326A>G
c.13A>G (p.Arg5Gly)
n.247A>G
15g.52154020T>GCA490403707GNB5c.295A>C (p.Arg99=)
c.169A>C (p.Arg57=)
n.326A>C
c.13A>C (p.Arg5=)
n.247A>C
15g.52154021T>ACA392483390GNB5c.294A>T (p.Arg98Ser)
c.168A>T (p.Arg56Ser)
n.325A>T
c.12A>T (p.Arg4Ser)
n.246A>T
 dbSNP gnomAD v2
15g.52154021T>CCA490403708GNB5c.294A>G (p.Arg98=)
c.168A>G (p.Arg56=)
n.325A>G
c.12A>G (p.Arg4=)
n.246A>G
15g.52154021T>GCA392483392GNB5c.294A>C (p.Arg98Ser)
c.168A>C (p.Arg56Ser)
n.325A>C
c.12A>C (p.Arg4Ser)
n.246A>C
15g.52154021T=CA2177211045GNB5c.294A= (p.Arg98=)
c.168A= (p.Arg56=)
n.325A=
c.12A= (p.Arg4=)
n.246A=
15g.52154022C>ACA392483400GNB5c.293G>T (p.Arg98Ile)
c.167G>T (p.Arg56Ile)
n.324G>T
c.11G>T (p.Arg4Ile)
n.245G>T
15g.52154022C>GCA392483404GNB5c.293G>C (p.Arg98Thr)
c.167G>C (p.Arg56Thr)
n.324G>C
c.11G>C (p.Arg4Thr)
n.245G>C
15g.52154022C>TCA392483412GNB5c.293G>A (p.Arg98Lys)
c.167G>A (p.Arg56Lys)
n.324G>A
c.11G>A (p.Arg4Lys)
n.245G>A
15g.52154023T>ACA392483415GNB5c.292A>T (p.Arg98Ter)
c.166A>T (p.Arg56Ter)
n.323A>T
c.10A>T (p.Arg4Ter)
n.244A>T
15g.52154023T>CCA392483416GNB5c.292A>G (p.Arg98Gly)
c.166A>G (p.Arg56Gly)
n.323A>G
c.10A>G (p.Arg4Gly)
n.244A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.52154023T>GCA490403709GNB5c.292A>C (p.Arg98=)
c.166A>C (p.Arg56=)
n.323A>C
c.10A>C (p.Arg4=)
n.244A>C
15g.52154023T=CA2177211048GNB5c.292A= (p.Arg98=)
c.166A= (p.Arg56=)
n.323A=
c.10A= (p.Arg4=)
n.244A=
15g.52154024G>ACA490403712GNB5c.291C>T (p.Thr97=)
c.165C>T (p.Thr55=)
n.322C>T
c.9C>T (p.Thr3=)
n.243C>T
15g.52154024G>CCA490403711GNB5c.291C>G (p.Thr97=)
c.165C>G (p.Thr55=)
n.322C>G
c.9C>G (p.Thr3=)
n.243C>G
15g.52154024G>TCA490403710GNB5c.291C>A (p.Thr97=)
c.165C>A (p.Thr55=)
n.322C>A
c.9C>A (p.Thr3=)
n.243C>A
15g.52154025G>ACA392483426GNB5c.290C>T (p.Thr97Ile)
c.164C>T (p.Thr55Ile)
n.321C>T
c.8C>T (p.Thr3Ile)
n.242C>T
15g.52154025G>CCA392483418GNB5c.290C>G (p.Thr97Ser)
c.164C>G (p.Thr55Ser)
n.321C>G
c.8C>G (p.Thr3Ser)
n.242C>G
15g.52154025G>TCA392483422GNB5c.290C>A (p.Thr97Asn)
c.164C>A (p.Thr55Asn)
n.321C>A
c.8C>A (p.Thr3Asn)
n.242C>A
15g.52154026T>ACA392483431GNB5c.289A>T (p.Thr97Ser)
c.163A>T (p.Thr55Ser)
n.320A>T
c.7A>T (p.Thr3Ser)
n.241A>T
15g.52154026T>CCA392483436GNB5c.289A>G (p.Thr97Ala)
c.163A>G (p.Thr55Ala)
n.320A>G
c.7A>G (p.Thr3Ala)
n.241A>G
15g.52154026T>GCA392483439GNB5c.289A>C (p.Thr97Pro)
c.163A>C (p.Thr55Pro)
n.320A>C
c.7A>C (p.Thr3Pro)
n.241A>C
15g.52154027C>ACA392483442GNB5c.288G>T (p.Lys96Asn)
c.162G>T (p.Lys54Asn)
n.319G>T
c.6G>T (p.Lys2Asn)
n.240G>T
15g.52154027C>GCA392483443GNB5c.288G>C (p.Lys96Asn)
c.162G>C (p.Lys54Asn)
n.319G>C
c.6G>C (p.Lys2Asn)
n.240G>C
 gnomAD v4
15g.52154027C>TCA490403713GNB5c.288G>A (p.Lys96=)
c.162G>A (p.Lys54=)
n.319G>A
c.6G>A (p.Lys2=)
n.240G>A
 gnomAD v4

Number of alleles fetched