Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.23375622_23375654delCA2624233631IL25c.231-3_260del
c.279-3_308del
gnomAD v4
14g.23375627_23375644delinsTGGACAGAGACTTGAACCCA2123434626IL25c.233_250delinsTGGACAGAGACTTGAACC (p.Leu78=)
c.281_298delinsTGGACAGAGACTTGAACC (p.Leu94=)
14g.23375630_23375646delCA2123434628IL25c.236_252del (p.Asp79AlafsTer?)
c.284_300del (p.Asp95AlafsTer?)
dbSNP
14g.23375629_23375632delinsGACACA2123434629IL25c.235_238delinsGACA (p.Asp79=)
c.283_286delinsGACA (p.Asp95=)
14g.23375630A=CA2123434631IL25c.236A= (p.Asp79=)
c.284A= (p.Asp95=)
14g.23375630A>CCA388971712IL25c.236A>C (p.Asp79Ala)
c.284A>C (p.Asp95Ala)
14g.23375630A>GCA388971716IL25c.236A>G (p.Asp79Gly)
c.284A>G (p.Asp95Gly)
dbSNP gnomAD v2 gnomAD v4
14g.23375630A>TCA388971718IL25c.236A>T (p.Asp79Val)
c.284A>T (p.Asp95Val)
14g.23375630_23375632delCA7113884IL25c.236_238del (p.Asp79_Arg80delinsGly)
c.284_286del (p.Asp95_Arg96delinsGly)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375631C>ACA7113885IL25c.237C>A (p.Asp79Glu)
c.285C>A (p.Asp95Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375631C=CA2123434633IL25c.237C= (p.Asp79=)
c.285C= (p.Asp95=)
14g.23375631C>GCA388971724IL25c.237C>G (p.Asp79Glu)
c.285C>G (p.Asp95Glu)
14g.23375631C>TCA485764030IL25c.237C>T (p.Asp79=)
c.285C>T (p.Asp95=)
14g.23375631_23375633delinsCAGCA2123434635IL25c.237_239delinsCAG (p.Asp79=)
c.285_287delinsCAG (p.Asp95=)
14g.23375632A>CCA485764031IL25c.238A>C (p.Arg80=)
c.286A>C (p.Arg96=)
14g.23375632A>GCA388971730IL25c.238A>G (p.Arg80Gly)
c.286A>G (p.Arg96Gly)
14g.23375632A>TCA388971732IL25c.238A>T (p.Arg80Ter)
c.286A>T (p.Arg96Ter)
14g.23375635_23375636delCA257770066IL25c.241_242del (p.Asp81LeufsTer?)
c.289_290del (p.Asp97LeufsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.23375633G>ACA388971734IL25c.239G>A (p.Arg80Lys)
c.287G>A (p.Arg96Lys)
dbSNP gnomAD v3 gnomAD v4
14g.23375633G>CCA388971737IL25c.239G>C (p.Arg80Thr)
c.287G>C (p.Arg96Thr)
14g.23375633G=CA2123434638IL25c.239G= (p.Arg80=)
c.287G= (p.Arg96=)
14g.23375633G>TCA388971740IL25c.239G>T (p.Arg80Ile)
c.287G>T (p.Arg96Ile)
COSMIC
14g.23375633_23375647delinsGAGACTTGAACCGGCCA2123434637IL25c.239_253delinsGAGACTTGAACCGGC (p.Arg80=)
c.287_301delinsGAGACTTGAACCGGC (p.Arg96=)
14g.23375634A>CCA388971743IL25c.240A>C (p.Arg80Ser)
c.288A>C (p.Arg96Ser)
gnomAD v4
14g.23375634A>GCA485764035IL25c.240A>G (p.Arg80=)
c.288A>G (p.Arg96=)
gnomAD v4
14g.23375634A>TCA388971744IL25c.240A>T (p.Arg80Ser)
c.288A>T (p.Arg96Ser)
14g.23375634_23375647delCA7113886IL25c.240_253del (p.Arg80SerfsTer?)
c.288_301del (p.Arg96SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375635G>ACA388971750IL25c.241G>A (p.Asp81Asn)
c.289G>A (p.Asp97Asn)
14g.23375635G>CCA388971752IL25c.241G>C (p.Asp81His)
c.289G>C (p.Asp97His)
14g.23375635G>TCA388971753IL25c.241G>T (p.Asp81Tyr)
c.289G>T (p.Asp97Tyr)
ClinVar COSMIC
14g.23375636A=CA2123434641IL25c.242A= (p.Asp81=)
c.290A= (p.Asp97=)
14g.23375636A>CCA388971755IL25c.242A>C (p.Asp81Ala)
c.290A>C (p.Asp97Ala)
14g.23375636A>GCA388971757IL25c.242A>G (p.Asp81Gly)
c.290A>G (p.Asp97Gly)
dbSNP gnomAD v2 gnomAD v4
14g.23375636A>TCA388971759IL25c.242A>T (p.Asp81Val)
c.290A>T (p.Asp97Val)
14g.23375637C>ACA388971765IL25c.243C>A (p.Asp81Glu)
c.291C>A (p.Asp97Glu)
14g.23375637C>GCA388971762IL25c.243C>G (p.Asp81Glu)
c.291C>G (p.Asp97Glu)
gnomAD v4
14g.23375637C>TCA485764042IL25c.243C>T (p.Asp81=)
c.291C>T (p.Asp97=)
gnomAD v4
14g.23375638T>ACA388971775IL25c.244T>A (p.Leu82Met)
c.292T>A (p.Leu98Met)
14g.23375638T>CCA485764043IL25c.244T>C (p.Leu82=)
c.292T>C (p.Leu98=)
14g.23375638T>GCA388971778IL25c.244T>G (p.Leu82Val)
c.292T>G (p.Leu98Val)
14g.23375639T>ACA388971780IL25c.245T>A (p.Leu82Ter)
c.293T>A (p.Leu98Ter)
14g.23375639T>CCA388971782IL25c.245T>C (p.Leu82Ser)
c.293T>C (p.Leu98Ser)
14g.23375639T>GCA388971787IL25c.245T>G (p.Leu82Trp)
c.293T>G (p.Leu98Trp)
14g.23375640G>ACA485764045IL25c.246G>A (p.Leu82=)
c.294G>A (p.Leu98=)
14g.23375640G>CCA388971789IL25c.246G>C (p.Leu82Phe)
c.294G>C (p.Leu98Phe)
14g.23375640G>TCA388971791IL25c.246G>T (p.Leu82Phe)
c.294G>T (p.Leu98Phe)
14g.23375641A>CCA388971802IL25c.247A>C (p.Asn83His)
c.295A>C (p.Asn99His)
14g.23375641A>GCA388971795IL25c.247A>G (p.Asn83Asp)
c.295A>G (p.Asn99Asp)
14g.23375641A>TCA388971797IL25c.247A>T (p.Asn83Tyr)
c.295A>T (p.Asn99Tyr)
14g.23375642A>CCA388971803IL25c.248A>C (p.Asn83Thr)
c.296A>C (p.Asn99Thr)
14g.23375642A>GCA388971813IL25c.248A>G (p.Asn83Ser)
c.296A>G (p.Asn99Ser)
14g.23375642A>TCA388971815IL25c.248A>T (p.Asn83Ile)
c.296A>T (p.Asn99Ile)
14g.23375643C>ACA388971817IL25c.249C>A (p.Asn83Lys)
c.297C>A (p.Asn99Lys)
14g.23375643C>GCA388971820IL25c.249C>G (p.Asn83Lys)
c.297C>G (p.Asn99Lys)
14g.23375643C>TCA485764047IL25c.249C>T (p.Asn83=)
c.297C>T (p.Asn99=)
gnomAD v4
14g.23375644C>ACA7113888IL25c.250C>A (p.Arg84=)
c.298C>A (p.Arg100=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375644C=CA2123434643IL25c.250C= (p.Arg84=)
c.298C= (p.Arg100=)
14g.23375644C>GCA388971825IL25c.250C>G (p.Arg84Gly)
c.298C>G (p.Arg100Gly)
14g.23375644C>TCA7113887IL25c.250C>T (p.Arg84Trp)
c.298C>T (p.Arg100Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375645G>ACA257770083IL25c.251G>A (p.Arg84Gln)
c.299G>A (p.Arg100Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.23375645G>CCA388971828IL25c.251G>C (p.Arg84Pro)
c.299G>C (p.Arg100Pro)
14g.23375645G=CA2123434646IL25c.251G= (p.Arg84=)
c.299G= (p.Arg100=)
14g.23375645G>TCA388971829IL25c.251G>T (p.Arg84Leu)
c.299G>T (p.Arg100Leu)
dbSNP gnomAD v3 gnomAD v4
14g.23375646G>ACA485764050IL25c.252G>A (p.Arg84=)
c.300G>A (p.Arg100=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.23375646G>CCA485764051IL25c.252G>C (p.Arg84=)
c.300G>C (p.Arg100=)
dbSNP gnomAD v2 gnomAD v4
14g.23375646G=CA2123434648IL25c.252G= (p.Arg84=)
c.300G= (p.Arg100=)
14g.23375646G>TCA485764052IL25c.252G>T (p.Arg84=)
c.300G>T (p.Arg100=)
14g.23375647C>ACA388971830IL25c.253C>A (p.Leu85Ile)
c.301C>A (p.Leu101Ile)
COSMIC
14g.23375647C=CA2123434650IL25c.253C= (p.Leu85=)
c.301C= (p.Leu101=)
14g.23375647C>GCA388971832IL25c.253C>G (p.Leu85Val)
c.301C>G (p.Leu101Val)
dbSNP gnomAD v4
14g.23375647C>TCA7113889IL25c.253C>T (p.Leu85Phe)
c.301C>T (p.Leu101Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375648T>ACA388971835IL25c.254T>A (p.Leu85His)
c.302T>A (p.Leu101His)
14g.23375648T>CCA388971836IL25c.254T>C (p.Leu85Pro)
c.302T>C (p.Leu101Pro)
14g.23375648T>GCA388971837IL25c.254T>G (p.Leu85Arg)
c.302T>G (p.Leu101Arg)
14g.23375648T=CA2123434652IL25c.254T= (p.Leu85=)
c.302T= (p.Leu101=)
14g.23375649C>ACA485764056IL25c.255C>A (p.Leu85=)
c.303C>A (p.Leu101=)
dbSNP
14g.23375649C=CA2123434655IL25c.255C= (p.Leu85=)
c.303C= (p.Leu101=)
14g.23375649C>GCA485764058IL25c.255C>G (p.Leu85=)
c.303C>G (p.Leu101=)
14g.23375649C>TCA485764057IL25c.255C>T (p.Leu85=)
c.303C>T (p.Leu101=)
dbSNP gnomAD v4 COSMIC
14g.23375653dupCA2123434654IL25c.259dup (p.Gln87ProfsTer?)
c.307dup (p.Gln103ProfsTer?)
dbSNP
14g.23375650C>ACA388971839IL25c.256C>A (p.Pro86Thr)
c.304C>A (p.Pro102Thr)
14g.23375650C=CA2123434657IL25c.256C= (p.Pro86=)
c.304C= (p.Pro102=)
14g.23375650C>GCA388971840IL25c.256C>G (p.Pro86Ala)
c.304C>G (p.Pro102Ala)
14g.23375650C>TCA388971842IL25c.256C>T (p.Pro86Ser)
c.304C>T (p.Pro102Ser)
dbSNP gnomAD v2 gnomAD v4
14g.23375651C>ACA388971844IL25c.257C>A (p.Pro86His)
c.305C>A (p.Pro102His)
14g.23375651C>GCA388971850IL25c.257C>G (p.Pro86Arg)
c.305C>G (p.Pro102Arg)
14g.23375651C>TCA388971846IL25c.257C>T (p.Pro86Leu)
c.305C>T (p.Pro102Leu)
14g.23375652C>ACA485764061IL25c.258C>A (p.Pro86=)
c.306C>A (p.Pro102=)
14g.23375652C=CA2123434659IL25c.258C= (p.Pro86=)
c.306C= (p.Pro102=)
14g.23375652C>GCA485764062IL25c.258C>G (p.Pro86=)
c.306C>G (p.Pro102=)
14g.23375652C>TCA257770100IL25c.258C>T (p.Pro86=)
c.306C>T (p.Pro102=)
dbSNP gnomAD v3 gnomAD v4
14g.23375653C>ACA388971856IL25c.259C>A (p.Gln87Lys)
c.307C>A (p.Gln103Lys)
14g.23375653C=CA2123434662IL25c.259C= (p.Gln87=)
c.307C= (p.Gln103=)
14g.23375653C>GCA388971860IL25c.259C>G (p.Gln87Glu)
c.307C>G (p.Gln103Glu)
14g.23375653C>TCA257770101IL25c.259C>T (p.Gln87Ter)
c.307C>T (p.Gln103Ter)
dbSNP
14g.23375654A>CCA388971868IL25c.260A>C (p.Gln87Pro)
c.308A>C (p.Gln103Pro)
14g.23375654A>GCA388971870IL25c.260A>G (p.Gln87Arg)
c.308A>G (p.Gln103Arg)
gnomAD v4
14g.23375654A>TCA388971878IL25c.260A>T (p.Gln87Leu)
c.308A>T (p.Gln103Leu)
14g.23375655G>ACA485764066IL25c.261G>A (p.Gln87=)
c.309G>A (p.Gln103=)
14g.23375655G>CCA388971881IL25c.261G>C (p.Gln87His)
c.309G>C (p.Gln103His)
14g.23375655G>TCA388971893IL25c.261G>T (p.Gln87His)
c.309G>T (p.Gln103His)
14g.23375656G>ACA388971896IL25c.262G>A (p.Asp88Asn)
c.310G>A (p.Asp104Asn)
14g.23375656G>CCA388971898IL25c.262G>C (p.Asp88His)
c.310G>C (p.Asp104His)
14g.23375656G>TCA388971901IL25c.262G>T (p.Asp88Tyr)
c.310G>T (p.Asp104Tyr)
14g.23375657A>CCA388971913IL25c.263A>C (p.Asp88Ala)
c.311A>C (p.Asp104Ala)
14g.23375657A>GCA388971916IL25c.263A>G (p.Asp88Gly)
c.311A>G (p.Asp104Gly)
14g.23375657A>TCA388971918IL25c.263A>T (p.Asp88Val)
c.311A>T (p.Asp104Val)
14g.23375658C>ACA388971919IL25c.264C>A (p.Asp88Glu)
c.312C>A (p.Asp104Glu)
14g.23375658C>GCA388971921IL25c.264C>G (p.Asp88Glu)
c.312C>G (p.Asp104Glu)
14g.23375658C>TCA485764070IL25c.264C>T (p.Asp88=)
c.312C>T (p.Asp104=)
14g.23375659C>ACA388971925IL25c.265C>A (p.Leu89Met)
c.313C>A (p.Leu105Met)
gnomAD v4
14g.23375659C=CA2123434665IL25c.265C= (p.Leu89=)
c.313C= (p.Leu105=)
14g.23375659C>GCA7113890IL25c.265C>G (p.Leu89Val)
c.313C>G (p.Leu105Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375659C>TCA485764071IL25c.265C>T (p.Leu89=)
c.313C>T (p.Leu105=)
dbSNP gnomAD v3 gnomAD v4
14g.23375660T>ACA388971929IL25c.266T>A (p.Leu89Gln)
c.314T>A (p.Leu105Gln)
14g.23375660T>CCA7113891IL25c.266T>C (p.Leu89Pro)
c.314T>C (p.Leu105Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375660T>GCA388971930IL25c.266T>G (p.Leu89Arg)
c.314T>G (p.Leu105Arg)
14g.23375660T=CA2123434666IL25c.266T= (p.Leu89=)
c.314T= (p.Leu105=)
14g.23375661G>ACA485764072IL25c.267G>A (p.Leu89=)
c.315G>A (p.Leu105=)
14g.23375661G>CCA7113892IL25c.267G>C (p.Leu89=)
c.315G>C (p.Leu105=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375661G=CA2123434667IL25c.267G= (p.Leu89=)
c.315G= (p.Leu105=)
14g.23375661G>TCA485764073IL25c.267G>T (p.Leu89=)
c.315G>T (p.Leu105=)
14g.23375662T>ACA388971935IL25c.268T>A (p.Tyr90Asn)
c.316T>A (p.Tyr106Asn)
14g.23375662T>CCA388971936IL25c.268T>C (p.Tyr90His)
c.316T>C (p.Tyr106His)
14g.23375662T>GCA388971939IL25c.268T>G (p.Tyr90Asp)
c.316T>G (p.Tyr106Asp)
14g.23375663A>CCA388971942IL25c.269A>C (p.Tyr90Ser)
c.317A>C (p.Tyr106Ser)
14g.23375663A>GCA388971946IL25c.269A>G (p.Tyr90Cys)
c.317A>G (p.Tyr106Cys)
14g.23375663A>TCA388971952IL25c.269A>T (p.Tyr90Phe)
c.317A>T (p.Tyr106Phe)
14g.23375664C>ACA7113893IL25c.270C>A (p.Tyr90Ter)
c.318C>A (p.Tyr106Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375664C=CA2123434669IL25c.270C= (p.Tyr90=)
c.318C= (p.Tyr106=)
14g.23375664C>GCA388971953IL25c.270C>G (p.Tyr90Ter)
c.318C>G (p.Tyr106Ter)
14g.23375664C>TCA485764078IL25c.270C>T (p.Tyr90=)
c.318C>T (p.Tyr106=)
gnomAD v4
14g.23375665C>ACA388971959IL25c.271C>A (p.His91Asn)
c.319C>A (p.His107Asn)
14g.23375665C>GCA388971975IL25c.271C>G (p.His91Asp)
c.319C>G (p.His107Asp)
14g.23375665C>TCA388971973IL25c.271C>T (p.His91Tyr)
c.319C>T (p.His107Tyr)
14g.23375666A=CA2123434670IL25c.272A= (p.His91=)
c.320A= (p.His107=)
14g.23375666A>CCA388971978IL25c.272A>C (p.His91Pro)
c.320A>C (p.His107Pro)
14g.23375666A>GCA388971980IL25c.272A>G (p.His91Arg)
c.320A>G (p.His107Arg)
14g.23375666A>TCA388971999IL25c.272A>T (p.His91Leu)
c.320A>T (p.His107Leu)
14g.23375667C>ACA388972010IL25c.273C>A (p.His91Gln)
c.321C>A (p.His107Gln)
14g.23375667C=CA2123434671IL25c.273C= (p.His91=)
c.321C= (p.His107=)
14g.23375667C>GCA388972014IL25c.273C>G (p.His91Gln)
c.321C>G (p.His107Gln)
14g.23375667C>TCA7113894IL25c.273C>T (p.His91=)
c.321C>T (p.His107=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.23375669_23375672dupCA2123434672IL25c.275_278dup (p.Cys94ProfsTer?)
c.323_326dup (p.Cys110ProfsTer?)
dbSNP gnomAD v4
14g.23375668G>ACA7113895IL25c.274G>A (p.Ala92Thr)
c.322G>A (p.Ala108Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375668G>CCA388972022IL25c.274G>C (p.Ala92Pro)
c.322G>C (p.Ala108Pro)
14g.23375668G=CA2123434673IL25c.274G= (p.Ala92=)
c.322G= (p.Ala108=)
14g.23375668G>TCA388972021IL25c.274G>T (p.Ala92Ser)
c.322G>T (p.Ala108Ser)
gnomAD v4
14g.23375673_23375685delCA2624233831IL25c.279_291del (p.Cys94ThrfsTer?)
c.327_339del (p.Cys110ThrfsTer?)
gnomAD v4
14g.23375669C>ACA388972025IL25c.275C>A (p.Ala92Asp)
c.323C>A (p.Ala108Asp)
COSMIC
14g.23375669C=CA2123434674IL25c.275C= (p.Ala92=)
c.323C= (p.Ala108=)
14g.23375669C>GCA388972027IL25c.275C>G (p.Ala92Gly)
c.323C>G (p.Ala108Gly)
dbSNP gnomAD v3 gnomAD v4
14g.23375669C>TCA388972034IL25c.275C>T (p.Ala92Val)
c.323C>T (p.Ala108Val)
gnomAD v4
14g.23375670C>ACA485764085IL25c.276C>A (p.Ala92=)
c.324C>A (p.Ala108=)
14g.23375670C=CA2123434675IL25c.276C= (p.Ala92=)
c.324C= (p.Ala108=)
14g.23375670C>GCA485764086IL25c.276C>G (p.Ala92=)
c.324C>G (p.Ala108=)
14g.23375670C>TCA485764084IL25c.276C>T (p.Ala92=)
c.324C>T (p.Ala108=)
dbSNP gnomAD v2 gnomAD v4
14g.23375671C>ACA388972036IL25c.277C>A (p.Arg93Ser)
c.325C>A (p.Arg109Ser)
14g.23375671C=CA2123434676IL25c.277C= (p.Arg93=)
c.325C= (p.Arg109=)
14g.23375671C>GCA388972043IL25c.277C>G (p.Arg93Gly)
c.325C>G (p.Arg109Gly)
14g.23375671C>TCA7113896IL25c.277C>T (p.Arg93Cys)
c.325C>T (p.Arg109Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375672G>ACA7113897IL25c.278G>A (p.Arg93His)
c.326G>A (p.Arg109His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.23375672G>CCA388972049IL25c.278G>C (p.Arg93Pro)
c.326G>C (p.Arg109Pro)
14g.23375672G=CA2123434677IL25c.278G= (p.Arg93=)
c.326G= (p.Arg109=)
14g.23375672G>TCA7113898IL25c.278G>T (p.Arg93Leu)
c.326G>T (p.Arg109Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375673T>ACA485764088IL25c.279T>A (p.Arg93=)
c.327T>A (p.Arg109=)
14g.23375673T>CCA7113899IL25c.279T>C (p.Arg93=)
c.327T>C (p.Arg109=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375673T>GCA485764090IL25c.279T>G (p.Arg93=)
c.327T>G (p.Arg109=)
14g.23375673T=CA2123434678IL25c.279T= (p.Arg93=)
c.327T= (p.Arg109=)
14g.23375674T>ACA388972053IL25c.280T>A (p.Cys94Ser)
c.328T>A (p.Cys110Ser)
14g.23375674T>CCA388972055IL25c.280T>C (p.Cys94Arg)
c.328T>C (p.Cys110Arg)
14g.23375674T>GCA388972062IL25c.280T>G (p.Cys94Gly)
c.328T>G (p.Cys110Gly)
14g.23375675G>ACA388972066IL25c.281G>A (p.Cys94Tyr)
c.329G>A (p.Cys110Tyr)
dbSNP gnomAD v3 gnomAD v4
14g.23375675G>CCA388972068IL25c.281G>C (p.Cys94Ser)
c.329G>C (p.Cys110Ser)
14g.23375675G=CA2123434679IL25c.281G= (p.Cys94=)
c.329G= (p.Cys110=)
14g.23375675G>TCA388972070IL25c.281G>T (p.Cys94Phe)
c.329G>T (p.Cys110Phe)
dbSNP gnomAD v2 gnomAD v4
14g.23375676C>ACA388972077IL25c.282C>A (p.Cys94Ter)
c.330C>A (p.Cys110Ter)
14g.23375676C=CA2123434680IL25c.282C= (p.Cys94=)
c.330C= (p.Cys110=)
14g.23375676C>GCA388972080IL25c.282C>G (p.Cys94Trp)
c.330C>G (p.Cys110Trp)
14g.23375676C>TCA7113900IL25c.282C>T (p.Cys94=)
c.330C>T (p.Cys110=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375677C>ACA388972084IL25c.283C>A (p.Leu95Met)
c.331C>A (p.Leu111Met)
14g.23375677C=CA2123434681IL25c.283C= (p.Leu95=)
c.331C= (p.Leu111=)
14g.23375677C>GCA388972086IL25c.283C>G (p.Leu95Val)
c.331C>G (p.Leu111Val)
14g.23375677C>TCA485764093IL25c.283C>T (p.Leu95=)
c.331C>T (p.Leu111=)
dbSNP
14g.23375678T>ACA388972090IL25c.284T>A (p.Leu95Gln)
c.332T>A (p.Leu111Gln)
14g.23375678T>CCA388972097IL25c.284T>C (p.Leu95Pro)
c.332T>C (p.Leu111Pro)
dbSNP gnomAD v2 gnomAD v4
14g.23375678T>GCA388972092IL25c.284T>G (p.Leu95Arg)
c.332T>G (p.Leu111Arg)
14g.23375678T=CA2123434682IL25c.284T= (p.Leu95=)
c.332T= (p.Leu111=)
14g.23375679G>ACA485764095IL25c.285G>A (p.Leu95=)
c.333G>A (p.Leu111=)
14g.23375679G>CCA485764096IL25c.285G>C (p.Leu95=)
c.333G>C (p.Leu111=)
14g.23375679G>TCA485764097IL25c.285G>T (p.Leu95=)
c.333G>T (p.Leu111=)
14g.23375680T>ACA388972099IL25c.286T>A (p.Cys96Ser)
c.334T>A (p.Cys112Ser)
14g.23375680T>CCA388972100IL25c.286T>C (p.Cys96Arg)
c.334T>C (p.Cys112Arg)
14g.23375680T>GCA388972104IL25c.286T>G (p.Cys96Gly)
c.334T>G (p.Cys112Gly)
14g.23375680_23375684delinsTGCCCCA2123434684IL25c.286_290delinsTGCCC (p.Cys96=)
c.334_338delinsTGCCC (p.Cys112=)
14g.23375681G>ACA388972105IL25c.287G>A (p.Cys96Tyr)
c.335G>A (p.Cys112Tyr)
14g.23375681G>CCA388972107IL25c.287G>C (p.Cys96Ser)
c.335G>C (p.Cys112Ser)
14g.23375681G>TCA388972109IL25c.287G>T (p.Cys96Phe)
c.335G>T (p.Cys112Phe)
14g.23375683_23375686delCA2123434685IL25c.289_292del (p.Pro97ThrfsTer?)
c.337_340del (p.Pro113ThrfsTer?)
dbSNP gnomAD v4
14g.23375682C>ACA388972111IL25c.288C>A (p.Cys96Ter)
c.336C>A (p.Cys112Ter)
14g.23375682C>GCA388972113IL25c.288C>G (p.Cys96Trp)
c.336C>G (p.Cys112Trp)
gnomAD v4
14g.23375682C>TCA485764110IL25c.288C>T (p.Cys96=)
c.336C>T (p.Cys112=)
14g.23375683C>ACA388972116IL25c.289C>A (p.Pro97Thr)
c.337C>A (p.Pro113Thr)
14g.23375683C=CA2123434686IL25c.289C= (p.Pro97=)
c.337C= (p.Pro113=)
14g.23375683C>GCA388972118IL25c.289C>G (p.Pro97Ala)
c.337C>G (p.Pro113Ala)
14g.23375683C>TCA257770146IL25c.289C>T (p.Pro97Ser)
c.337C>T (p.Pro113Ser)
dbSNP
14g.23375684C>ACA388972127IL25c.290C>A (p.Pro97Gln)
c.338C>A (p.Pro113Gln)
gnomAD v4
14g.23375684C=CA2123434689IL25c.290C= (p.Pro97=)
c.338C= (p.Pro113=)
14g.23375684C>GCA388972124IL25c.290C>G (p.Pro97Arg)
c.338C>G (p.Pro113Arg)
dbSNP gnomAD v2 gnomAD v4
14g.23375684C>TCA7113901IL25c.290C>T (p.Pro97Leu)
c.338C>T (p.Pro113Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375685G>ACA7113902IL25c.291G>A (p.Pro97=)
c.339G>A (p.Pro113=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375685G>CCA485764117IL25c.291G>C (p.Pro97=)
c.339G>C (p.Pro113=)
gnomAD v4
14g.23375685G=CA2123434691IL25c.291G= (p.Pro97=)
c.339G= (p.Pro113=)
14g.23375685G>TCA485764118IL25c.291G>T (p.Pro97=)
c.339G>T (p.Pro113=)
dbSNP
14g.23375686C>ACA388972130IL25c.292C>A (p.His98Asn)
c.340C>A (p.His114Asn)
14g.23375686C>GCA388972131IL25c.292C>G (p.His98Asp)
c.340C>G (p.His114Asp)
14g.23375686C>TCA388972133IL25c.292C>T (p.His98Tyr)
c.340C>T (p.His114Tyr)
14g.23375687A=CA2123434695IL25c.293A= (p.His98=)
c.341A= (p.His114=)
14g.23375687A>CCA388972136IL25c.293A>C (p.His98Pro)
c.341A>C (p.His114Pro)
14g.23375687A>GCA7113903IL25c.293A>G (p.His98Arg)
c.341A>G (p.His114Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375687A>TCA388972140IL25c.293A>T (p.His98Leu)
c.341A>T (p.His114Leu)
dbSNP gnomAD v3 gnomAD v4
14g.23375688C>ACA388972143IL25c.294C>A (p.His98Gln)
c.342C>A (p.His114Gln)
14g.23375688C=CA2123434697IL25c.294C= (p.His98=)
c.342C= (p.His114=)
14g.23375688C>GCA388972146IL25c.294C>G (p.His98Gln)
c.342C>G (p.His114Gln)
dbSNP gnomAD v4
14g.23375688C>TCA257770166IL25c.294C>T (p.His98=)
c.342C>T (p.His114=)
dbSNP gnomAD v3 gnomAD v4
14g.23375689T>ACA388972150IL25c.295T>A (p.Cys99Ser)
c.343T>A (p.Cys115Ser)
14g.23375689T>CCA388972152IL25c.295T>C (p.Cys99Arg)
c.343T>C (p.Cys115Arg)
gnomAD v4
14g.23375689T>GCA388972154IL25c.295T>G (p.Cys99Gly)
c.343T>G (p.Cys115Gly)
14g.23375690G>ACA388972157IL25c.296G>A (p.Cys99Tyr)
c.344G>A (p.Cys115Tyr)
14g.23375690G>CCA388972156IL25c.296G>C (p.Cys99Ser)
c.344G>C (p.Cys115Ser)
14g.23375690G>TCA388972155IL25c.296G>T (p.Cys99Phe)
c.344G>T (p.Cys115Phe)
14g.23375691C>ACA388972158IL25c.297C>A (p.Cys99Ter)
c.345C>A (p.Cys115Ter)
14g.23375691C=CA2123434700IL25c.297C= (p.Cys99=)
c.345C= (p.Cys115=)
14g.23375691C>GCA257770169IL25c.297C>G (p.Cys99Trp)
c.345C>G (p.Cys115Trp)
dbSNP gnomAD v3 gnomAD v4
14g.23375691C>TCA257770181IL25c.297C>T (p.Cys99=)
c.345C>T (p.Cys115=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.23375692G>ACA7113904IL25c.298G>A (p.Val100Ile)
c.346G>A (p.Val116Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.23375692G>CCA388972161IL25c.298G>C (p.Val100Leu)
c.346G>C (p.Val116Leu)
gnomAD v4 COSMIC
14g.23375692G=CA2123434703IL25c.298G= (p.Val100=)
c.346G= (p.Val116=)
14g.23375692G>TCA388972163IL25c.298G>T (p.Val100Phe)
c.346G>T (p.Val116Phe)
14g.23375693T>ACA388972165IL25c.299T>A (p.Val100Asp)
c.347T>A (p.Val116Asp)
14g.23375693T>CCA388972168IL25c.299T>C (p.Val100Ala)
c.347T>C (p.Val116Ala)
gnomAD v4
14g.23375693T>GCA388972169IL25c.299T>G (p.Val100Gly)
c.347T>G (p.Val116Gly)
14g.23375694C>ACA485764128IL25c.300C>A (p.Val100=)
c.348C>A (p.Val116=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.23375694C=CA2123434706IL25c.300C= (p.Val100=)
c.348C= (p.Val116=)
14g.23375694C>GCA485764130IL25c.300C>G (p.Val100=)
c.348C>G (p.Val116=)
14g.23375694C>TCA485764131IL25c.300C>T (p.Val100=)
c.348C>T (p.Val116=)
14g.23375695A>CCA388972172IL25c.301A>C (p.Ser101Arg)
c.349A>C (p.Ser117Arg)
14g.23375695A>GCA388972174IL25c.301A>G (p.Ser101Gly)
c.349A>G (p.Ser117Gly)
14g.23375695A>TCA388972177IL25c.301A>T (p.Ser101Cys)
c.349A>T (p.Ser117Cys)
14g.23375696G>ACA388972181IL25c.302G>A (p.Ser101Asn)
c.350G>A (p.Ser117Asn)
gnomAD v4 COSMIC
14g.23375696G>CCA388972184IL25c.302G>C (p.Ser101Thr)
c.350G>C (p.Ser117Thr)
14g.23375696G>TCA388972192IL25c.302G>T (p.Ser101Ile)
c.350G>T (p.Ser117Ile)
14g.23375697C>ACA388972203IL25c.303C>A (p.Ser101Arg)
c.351C>A (p.Ser117Arg)
14g.23375697C=CA2123434708IL25c.303C= (p.Ser101=)
c.351C= (p.Ser117=)
14g.23375697C>GCA388972195IL25c.303C>G (p.Ser101Arg)
c.351C>G (p.Ser117Arg)
gnomAD v4
14g.23375697C>TCA7113905IL25c.303C>T (p.Ser101=)
c.351C>T (p.Ser117=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375698C>ACA388972207IL25c.304C>A (p.Leu102Ile)
c.352C>A (p.Leu118Ile)
14g.23375698C>GCA388972209IL25c.304C>G (p.Leu102Val)
c.352C>G (p.Leu118Val)
14g.23375698C>TCA485764142IL25c.304C>T (p.Leu102=)
c.352C>T (p.Leu118=)
gnomAD v4
14g.23375699T>ACA388972216IL25c.305T>A (p.Leu102Gln)
c.353T>A (p.Leu118Gln)
14g.23375699T>CCA388972219IL25c.305T>C (p.Leu102Pro)
c.353T>C (p.Leu118Pro)
14g.23375699T>GCA388972223IL25c.305T>G (p.Leu102Arg)
c.353T>G (p.Leu118Arg)
14g.23375700A>CCA485764148IL25c.306A>C (p.Leu102=)
c.354A>C (p.Leu118=)
14g.23375700A>GCA485764149IL25c.306A>G (p.Leu102=)
c.354A>G (p.Leu118=)
14g.23375700A>TCA485764151IL25c.306A>T (p.Leu102=)
c.354A>T (p.Leu118=)
14g.23375701C>ACA388972235IL25c.307C>A (p.Gln103Lys)
c.355C>A (p.Gln119Lys)
14g.23375701C>GCA388972238IL25c.307C>G (p.Gln103Glu)
c.355C>G (p.Gln119Glu)
14g.23375701C>TCA388972241IL25c.307C>T (p.Gln103Ter)
c.355C>T (p.Gln119Ter)
14g.23375702A>CCA388972248IL25c.308A>C (p.Gln103Pro)
c.356A>C (p.Gln119Pro)
14g.23375702A>GCA388972252IL25c.308A>G (p.Gln103Arg)
c.356A>G (p.Gln119Arg)
14g.23375702A>TCA388972253IL25c.308A>T (p.Gln103Leu)
c.356A>T (p.Gln119Leu)
14g.23375703G>ACA7113906IL25c.309G>A (p.Gln103=)
c.357G>A (p.Gln119=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375703G>CCA388972263IL25c.309G>C (p.Gln103His)
c.357G>C (p.Gln119His)
14g.23375703G=CA2123434711IL25c.309G= (p.Gln103=)
c.357G= (p.Gln119=)
14g.23375703G>TCA388972257IL25c.309G>T (p.Gln103His)
c.357G>T (p.Gln119His)
14g.23375704A=CA2123434714IL25c.310A= (p.Thr104=)
c.358A= (p.Thr120=)
14g.23375704A>CCA388972267IL25c.310A>C (p.Thr104Pro)
c.358A>C (p.Thr120Pro)
14g.23375704A>GCA7113907IL25c.310A>G (p.Thr104Ala)
c.358A>G (p.Thr120Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375704A>TCA388972271IL25c.310A>T (p.Thr104Ser)
c.358A>T (p.Thr120Ser)
14g.23375705C>ACA388972276IL25c.311C>A (p.Thr104Lys)
c.359C>A (p.Thr120Lys)
14g.23375705C=CA2123434716IL25c.311C= (p.Thr104=)
c.359C= (p.Thr120=)
14g.23375705C>GCA388972279IL25c.311C>G (p.Thr104Arg)
c.359C>G (p.Thr120Arg)
dbSNP gnomAD v4
14g.23375705C>TCA388972283IL25c.311C>T (p.Thr104Ile)
c.359C>T (p.Thr120Ile)
gnomAD v4
14g.23375706A>CCA485764167IL25c.312A>C (p.Thr104=)
c.360A>C (p.Thr120=)
14g.23375706A>GCA485764169IL25c.312A>G (p.Thr104=)
c.360A>G (p.Thr120=)
14g.23375706A>TCA485764170IL25c.312A>T (p.Thr104=)
c.360A>T (p.Thr120=)
14g.23375707G>ACA388972289IL25c.313G>A (p.Gly105Ser)
c.361G>A (p.Gly121Ser)
14g.23375707G>CCA388972291IL25c.313G>C (p.Gly105Arg)
c.361G>C (p.Gly121Arg)
14g.23375707G>TCA388972293IL25c.313G>T (p.Gly105Cys)
c.361G>T (p.Gly121Cys)
14g.23375708G>ACA388972297IL25c.314G>A (p.Gly105Asp)
c.362G>A (p.Gly121Asp)
gnomAD v4
14g.23375708G>CCA388972301IL25c.314G>C (p.Gly105Ala)
c.362G>C (p.Gly121Ala)
dbSNP gnomAD v3 gnomAD v4
14g.23375708G=CA2123434718IL25c.314G= (p.Gly105=)
c.362G= (p.Gly121=)
14g.23375708G>TCA388972310IL25c.314G>T (p.Gly105Val)
c.362G>T (p.Gly121Val)
gnomAD v4
14g.23375709C>ACA485764176IL25c.315C>A (p.Gly105=)
c.363C>A (p.Gly121=)
14g.23375709C=CA2123434720IL25c.315C= (p.Gly105=)
c.363C= (p.Gly121=)
14g.23375709C>GCA485764179IL25c.315C>G (p.Gly105=)
c.363C>G (p.Gly121=)
14g.23375709C>TCA485764177IL25c.315C>T (p.Gly105=)
c.363C>T (p.Gly121=)
dbSNP gnomAD v3 gnomAD v4
14g.23375710T>ACA388972317IL25c.316T>A (p.Ser106Thr)
c.364T>A (p.Ser122Thr)
14g.23375710T>CCA388972321IL25c.316T>C (p.Ser106Pro)
c.364T>C (p.Ser122Pro)
14g.23375710T>GCA388972314IL25c.316T>G (p.Ser106Ala)
c.364T>G (p.Ser122Ala)
gnomAD v4
14g.23375711C>ACA388972329IL25c.317C>A (p.Ser106Tyr)
c.365C>A (p.Ser122Tyr)
14g.23375711C=CA2123434723IL25c.317C= (p.Ser106=)
c.365C= (p.Ser122=)
14g.23375711C>GCA7113908IL25c.317C>G (p.Ser106Cys)
c.365C>G (p.Ser122Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375711C>TCA388972334IL25c.317C>T (p.Ser106Phe)
c.365C>T (p.Ser122Phe)
dbSNP gnomAD v2 gnomAD v4
14g.23375712C>ACA485764184IL25c.318C>A (p.Ser106=)
c.366C>A (p.Ser122=)
14g.23375712C>GCA485764188IL25c.318C>G (p.Ser106=)
c.366C>G (p.Ser122=)
gnomAD v4
14g.23375712C>TCA485764189IL25c.318C>T (p.Ser106=)
c.366C>T (p.Ser122=)
14g.23375713C>ACA388972340IL25c.319C>A (p.His107Asn)
c.367C>A (p.His123Asn)
14g.23375713C=CA2123434726IL25c.319C= (p.His107=)
c.367C= (p.His123=)
14g.23375713C>GCA257770206IL25c.319C>G (p.His107Asp)
c.367C>G (p.His123Asp)
dbSNP gnomAD v3 gnomAD v4
14g.23375713C>TCA388972344IL25c.319C>T (p.His107Tyr)
c.367C>T (p.His123Tyr)
dbSNP gnomAD v4
14g.23375714A>CCA388972354IL25c.320A>C (p.His107Pro)
c.368A>C (p.His123Pro)
14g.23375714A>GCA388972347IL25c.320A>G (p.His107Arg)
c.368A>G (p.His123Arg)
14g.23375714A>TCA388972353IL25c.320A>T (p.His107Leu)
c.368A>T (p.His123Leu)
14g.23375715C>ACA388972356IL25c.321C>A (p.His107Gln)
c.369C>A (p.His123Gln)
dbSNP
14g.23375715C=CA2123434731IL25c.321C= (p.His107=)
c.369C= (p.His123=)
14g.23375715C>GCA388972357IL25c.321C>G (p.His107Gln)
c.369C>G (p.His123Gln)
14g.23375715C>TCA485764195IL25c.321C>T (p.His107=)
c.369C>T (p.His123=)
gnomAD v4
14g.23375716A=CA2123434733IL25c.322A= (p.Met108=)
c.370A= (p.Met124=)
14g.23375716A>CCA388972361IL25c.322A>C (p.Met108Leu)
c.370A>C (p.Met124Leu)
14g.23375716A>GCA7113909IL25c.322A>G (p.Met108Val)
c.370A>G (p.Met124Val)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375716A>TCA388972374IL25c.322A>T (p.Met108Leu)
c.370A>T (p.Met124Leu)
gnomAD v4
14g.23375717T>ACA388972376IL25c.323T>A (p.Met108Lys)
c.371T>A (p.Met124Lys)
14g.23375717T>CCA388972382IL25c.323T>C (p.Met108Thr)
c.371T>C (p.Met124Thr)
14g.23375717T>GCA388972379IL25c.323T>G (p.Met108Arg)
c.371T>G (p.Met124Arg)
dbSNP
14g.23375717T=CA2123434735IL25c.323T= (p.Met108=)
c.371T= (p.Met124=)
14g.23375718G>ACA388972383IL25c.324G>A (p.Met108Ile)
c.372G>A (p.Met124Ile)
14g.23375718G>CCA388972385IL25c.324G>C (p.Met108Ile)
c.372G>C (p.Met124Ile)
14g.23375718G>TCA388972384IL25c.324G>T (p.Met108Ile)
c.372G>T (p.Met124Ile)
14g.23375719G>ACA388972388IL25c.325G>A (p.Asp109Asn)
c.373G>A (p.Asp125Asn)
14g.23375719G>CCA388972392IL25c.325G>C (p.Asp109His)
c.373G>C (p.Asp125His)
14g.23375719G=CA2123434738IL25c.325G= (p.Asp109=)
c.373G= (p.Asp125=)
14g.23375719G>TCA388972389IL25c.325G>T (p.Asp109Tyr)
c.373G>T (p.Asp125Tyr)
dbSNP
14g.23375720A=CA2123434740IL25c.326A= (p.Asp109=)
c.374A= (p.Asp125=)
14g.23375720A>CCA388972396IL25c.326A>C (p.Asp109Ala)
c.374A>C (p.Asp125Ala)
dbSNP gnomAD v4
14g.23375720A>GCA388972402IL25c.326A>G (p.Asp109Gly)
c.374A>G (p.Asp125Gly)
dbSNP gnomAD v4
14g.23375720A>TCA388972399IL25c.326A>T (p.Asp109Val)
c.374A>T (p.Asp125Val)
14g.23375721C>ACA7113911IL25c.327C>A (p.Asp109Glu)
c.375C>A (p.Asp125Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375721C=CA2123434744IL25c.327C= (p.Asp109=)
c.375C= (p.Asp125=)
14g.23375721C>GCA388972412IL25c.327C>G (p.Asp109Glu)
c.375C>G (p.Asp125Glu)
gnomAD v4
14g.23375721C>TCA7113910IL25c.327C>T (p.Asp109=)
c.375C>T (p.Asp125=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375725dupCA961068554IL25c.331dup (p.Arg111ProfsTer?)
c.379dup (p.Arg127ProfsTer?)
dbSNP gnomAD v3 gnomAD v4
14g.23375722C>ACA388972422IL25c.328C>A (p.Pro110Thr)
c.376C>A (p.Pro126Thr)
14g.23375722C>GCA388972424IL25c.328C>G (p.Pro110Ala)
c.376C>G (p.Pro126Ala)
14g.23375722C>TCA388972427IL25c.328C>T (p.Pro110Ser)
c.376C>T (p.Pro126Ser)
gnomAD v4
14g.23375723C>ACA388972430IL25c.329C>A (p.Pro110His)
c.377C>A (p.Pro126His)
14g.23375723C=CA2123434747IL25c.329C= (p.Pro110=)
c.377C= (p.Pro126=)
14g.23375723C>GCA388972433IL25c.329C>G (p.Pro110Arg)
c.377C>G (p.Pro126Arg)
14g.23375723C>TCA388972435IL25c.329C>T (p.Pro110Leu)
c.377C>T (p.Pro126Leu)
dbSNP gnomAD v4
14g.23375724C>ACA485764219IL25c.330C>A (p.Pro110=)
c.378C>A (p.Pro126=)
gnomAD v4
14g.23375724C>GCA485764221IL25c.330C>G (p.Pro110=)
c.378C>G (p.Pro126=)
gnomAD v4
14g.23375724C>TCA485764222IL25c.330C>T (p.Pro110=)
c.378C>T (p.Pro126=)
gnomAD v4
14g.23375725C>ACA485764226IL25c.331C>A (p.Arg111=)
c.379C>A (p.Arg127=)
14g.23375725C=CA2123434750IL25c.331C= (p.Arg111=)
c.379C= (p.Arg127=)
14g.23375725C>GCA388972436IL25c.331C>G (p.Arg111Gly)
c.379C>G (p.Arg127Gly)
gnomAD v4
14g.23375725C>TCA7113912IL25c.331C>T (p.Arg111Trp)
c.379C>T (p.Arg127Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375726G>ACA388972452IL25c.332G>A (p.Arg111Gln)
c.380G>A (p.Arg127Gln)
dbSNP gnomAD v2 gnomAD v4
14g.23375726G>CCA388972448IL25c.332G>C (p.Arg111Pro)
c.380G>C (p.Arg127Pro)
14g.23375726G=CA2123434752IL25c.332G= (p.Arg111=)
c.380G= (p.Arg127=)
14g.23375726G>TCA388972445IL25c.332G>T (p.Arg111Leu)
c.380G>T (p.Arg127Leu)
14g.23375729dupCA2575485439IL25c.335dup (p.Asn113GlnfsTer?)
c.383dup (p.Asn129GlnfsTer?)
14g.23375727G>ACA485764231IL25c.333G>A (p.Arg111=)
c.381G>A (p.Arg127=)
gnomAD v4
14g.23375727G>CCA7113913IL25c.333G>C (p.Arg111=)
c.381G>C (p.Arg127=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.23375727G=CA2123434754IL25c.333G= (p.Arg111=)
c.381G= (p.Arg127=)
14g.23375727G>TCA485764234IL25c.333G>T (p.Arg111=)
c.381G>T (p.Arg127=)
14g.23375728G>ACA388972459IL25c.334G>A (p.Gly112Ser)
c.382G>A (p.Gly128Ser)
14g.23375728G>CCA388972464IL25c.334G>C (p.Gly112Arg)
c.382G>C (p.Gly128Arg)
14g.23375728G>TCA388972473IL25c.334G>T (p.Gly112Cys)
c.382G>T (p.Gly128Cys)
14g.23375729G>ACA7113914IL25c.335G>A (p.Gly112Asp)
c.383G>A (p.Gly128Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.23375729G>CCA388972478IL25c.335G>C (p.Gly112Ala)
c.383G>C (p.Gly128Ala)
14g.23375729G=CA2123434756IL25c.335G= (p.Gly112=)
c.383G= (p.Gly128=)
14g.23375729G>TCA388972483IL25c.335G>T (p.Gly112Val)
c.383G>T (p.Gly128Val)
gnomAD v4
14g.23375730C>ACA485764237IL25c.336C>A (p.Gly112=)
c.384C>A (p.Gly128=)
dbSNP gnomAD v2 gnomAD v4
14g.23375730C=CA2123434760IL25c.336C= (p.Gly112=)
c.384C= (p.Gly128=)
14g.23375730C>GCA485764239IL25c.336C>G (p.Gly112=)
c.384C>G (p.Gly128=)
14g.23375730C>TCA485764240IL25c.336C>T (p.Gly112=)
c.384C>T (p.Gly128=)

Number of alleles fetched