Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56833320G>ACA395990155NUP93c.1451G>A (p.Arg484Gln)
c.1082G>A (p.Arg361Gln)
n.693G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833320G>CCA395990157NUP93c.1451G>C (p.Arg484Pro)
c.1082G>C (p.Arg361Pro)
n.693G>C
16g.56833320G=CA2224332236NUP93c.1451G= (p.Arg484=)
c.1082G= (p.Arg361=)
n.693G=
16g.56833320G>TCA395990159NUP93c.1451G>T (p.Arg484Leu)
c.1082G>T (p.Arg361Leu)
n.693G>T
16g.56833321G>ACA495600394NUP93c.1452G>A (p.Arg484=)
c.1083G>A (p.Arg361=)
n.694G>A
 gnomAD v4
16g.56833321G>CCA495600393NUP93c.1452G>C (p.Arg484=)
c.1083G>C (p.Arg361=)
n.694G>C
 dbSNP gnomAD v2 gnomAD v4
16g.56833321G=CA2224332237NUP93c.1452G= (p.Arg484=)
c.1083G= (p.Arg361=)
n.694G=
16g.56833321G>TCA495600392NUP93c.1452G>T (p.Arg484=)
c.1083G>T (p.Arg361=)
n.694G>T
 gnomAD v4
16g.56833322C>ACA395990161NUP93c.1453C>A (p.Leu485Met)
c.1084C>A (p.Leu362Met)
n.695C>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833322C=CA2224332238NUP93c.1453C= (p.Leu485=)
c.1084C= (p.Leu362=)
n.695C=
16g.56833322C>GCA395990162NUP93c.1453C>G (p.Leu485Val)
c.1084C>G (p.Leu362Val)
n.695C>G
16g.56833322C>TCA495600395NUP93c.1453C>T (p.Leu485=)
c.1084C>T (p.Leu362=)
n.695C>T
 dbSNP gnomAD v3 gnomAD v4
16g.56833323T>ACA395990163NUP93c.1454T>A (p.Leu485Gln)
c.1085T>A (p.Leu362Gln)
n.696T>A
16g.56833323T>CCA395990164NUP93c.1454T>C (p.Leu485Pro)
c.1085T>C (p.Leu362Pro)
n.696T>C
 dbSNP gnomAD v2 gnomAD v4
16g.56833323T>GCA395990165NUP93c.1454T>G (p.Leu485Arg)
c.1085T>G (p.Leu362Arg)
n.696T>G
16g.56833323T=CA2224332239NUP93c.1454T= (p.Leu485=)
c.1085T= (p.Leu362=)
n.696T=
16g.56833324G>ACA495600396NUP93c.1455G>A (p.Leu485=)
c.1086G>A (p.Leu362=)
n.697G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56833324G>CCA495600397NUP93c.1455G>C (p.Leu485=)
c.1086G>C (p.Leu362=)
n.697G>C
16g.56833324G=CA2224332240NUP93c.1455G= (p.Leu485=)
c.1086G= (p.Leu362=)
n.697G=
16g.56833324G>TCA495600398NUP93c.1455G>T (p.Leu485=)
c.1086G>T (p.Leu362=)
n.697G>T
16g.56833325C>ACA395990168NUP93c.1456C>A (p.Arg486Ser)
c.1087C>A (p.Arg363Ser)
n.698C>A
16g.56833325C=CA2224332241NUP93c.1456C= (p.Arg486=)
c.1087C= (p.Arg363=)
n.698C=
16g.56833325C>GCA395990166NUP93c.1456C>G (p.Arg486Gly)
c.1087C>G (p.Arg363Gly)
n.698C>G
16g.56833325C>TCA8068431NUP93c.1456C>T (p.Arg486Cys)
c.1087C>T (p.Arg363Cys)
n.698C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56833326G>ACA8068432NUP93c.1457G>A (p.Arg486His)
c.1088G>A (p.Arg363His)
n.699G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56833326G>CCA395990172NUP93c.1457G>C (p.Arg486Pro)
c.1088G>C (p.Arg363Pro)
n.699G>C
16g.56833326G=CA2224332242NUP93c.1457G= (p.Arg486=)
c.1088G= (p.Arg363=)
n.699G=
16g.56833326G>TCA395990174NUP93c.1457G>T (p.Arg486Leu)
c.1088G>T (p.Arg363Leu)
n.699G>T
16g.56833327C>ACA495600399NUP93c.1458C>A (p.Arg486=)
c.1089C>A (p.Arg363=)
n.700C>A
16g.56833327C=CA2224332243NUP93c.1458C= (p.Arg486=)
c.1089C= (p.Arg363=)
n.700C=
16g.56833327C>GCA495600400NUP93c.1458C>G (p.Arg486=)
c.1089C>G (p.Arg363=)
n.700C>G
16g.56833327C>TCA8068433NUP93c.1458C>T (p.Arg486=)
c.1089C>T (p.Arg363=)
n.700C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833328T>ACA395990178NUP93c.1459T>A (p.Cys487Ser)
c.1090T>A (p.Cys364Ser)
n.701T>A
16g.56833328T>CCA395990180NUP93c.1459T>C (p.Cys487Arg)
c.1090T>C (p.Cys364Arg)
n.701T>C
 gnomAD v4
16g.56833328T>GCA395990182NUP93c.1459T>G (p.Cys487Gly)
c.1090T>G (p.Cys364Gly)
n.701T>G
16g.56833329G>ACA395990184NUP93c.1460G>A (p.Cys487Tyr)
c.1091G>A (p.Cys364Tyr)
n.702G>A
 gnomAD v4
16g.56833329G>CCA395990186NUP93c.1460G>C (p.Cys487Ser)
c.1091G>C (p.Cys364Ser)
n.702G>C
16g.56833329G>TCA395990187NUP93c.1460G>T (p.Cys487Phe)
c.1091G>T (p.Cys364Phe)
n.702G>T
16g.56833330C>ACA395990190NUP93c.1461C>A (p.Cys487Ter)
c.1092C>A (p.Cys364Ter)
n.703C>A
16g.56833330C=CA2224332244NUP93c.1461C= (p.Cys487=)
c.1092C= (p.Cys364=)
n.703C=
16g.56833330C>GCA395990191NUP93c.1461C>G (p.Cys487Trp)
c.1092C>G (p.Cys364Trp)
n.703C>G
 gnomAD v4
16g.56833330C>TCA8068434NUP93c.1461C>T (p.Cys487=)
c.1092C>T (p.Cys364=)
n.703C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833331C>ACA395990197NUP93c.1462C>A (p.His488Asn)
c.1093C>A (p.His365Asn)
n.704C>A
16g.56833331C=CA2224332245NUP93c.1462C= (p.His488=)
c.1093C= (p.His365=)
n.704C=
16g.56833331C>GCA395990200NUP93c.1462C>G (p.His488Asp)
c.1093C>G (p.His365Asp)
n.704C>G
16g.56833331C>TCA8068435NUP93c.1462C>T (p.His488Tyr)
c.1093C>T (p.His365Tyr)
n.704C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833332A=CA2224332246NUP93c.1463A= (p.His488=)
c.1094A= (p.His365=)
n.705A=
16g.56833332A>CCA395990208NUP93c.1463A>C (p.His488Pro)
c.1094A>C (p.His365Pro)
n.705A>C
 gnomAD v4
16g.56833332A>GCA395990204NUP93c.1463A>G (p.His488Arg)
c.1094A>G (p.His365Arg)
n.705A>G
 ClinVar dbSNP gnomAD v4
16g.56833332A>TCA395990206NUP93c.1463A>T (p.His488Leu)
c.1094A>T (p.His365Leu)
n.705A>T
16g.56833333T>ACA281497210NUP93c.1464T>A (p.His488Gln)
c.1095T>A (p.His365Gln)
n.706T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833333T>CCA495600401NUP93c.1464T>C (p.His488=)
c.1095T>C (p.His365=)
n.706T>C
 dbSNP gnomAD v2 gnomAD v4
16g.56833333T>GCA395990210NUP93c.1464T>G (p.His488Gln)
c.1095T>G (p.His365Gln)
n.706T>G
16g.56833333T=CA2224332247NUP93c.1464T= (p.His488=)
c.1095T= (p.His365=)
n.706T=
16g.56833334G>ACA395990211NUP93c.1465G>A (p.Ala489Thr)
c.1096G>A (p.Ala366Thr)
n.707G>A
16g.56833334G>CCA395990212NUP93c.1465G>C (p.Ala489Pro)
c.1096G>C (p.Ala366Pro)
n.707G>C
 gnomAD v4
16g.56833334G>TCA395990213NUP93c.1465G>T (p.Ala489Ser)
c.1096G>T (p.Ala366Ser)
n.707G>T
16g.56833335C>ACA395990214NUP93c.1466C>A (p.Ala489Asp)
c.1097C>A (p.Ala366Asp)
n.708C>A
16g.56833335C=CA2224332248NUP93c.1466C= (p.Ala489=)
c.1097C= (p.Ala366=)
n.708C=
16g.56833335C>GCA395990215NUP93c.1466C>G (p.Ala489Gly)
c.1097C>G (p.Ala366Gly)
n.708C>G
16g.56833335C>TCA395990216NUP93c.1466C>T (p.Ala489Val)
c.1097C>T (p.Ala366Val)
n.708C>T
 gnomAD v4
16g.56833336T>ACA495600404NUP93c.1467T>A (p.Ala489=)
c.1098T>A (p.Ala366=)
n.709T>A
16g.56833336T>CCA495600403NUP93c.1467T>C (p.Ala489=)
c.1098T>C (p.Ala366=)
n.709T>C
 gnomAD v4
16g.56833336T>GCA495600402NUP93c.1467T>G (p.Ala489=)
c.1098T>G (p.Ala366=)
n.709T>G
16g.56833339_56833344dupCA622338436NUP93c.1470_1475dup (p.Val492_Ala493insHisVal)
c.1101_1106dup (p.Val369_Ala370insHisVal)
n.712_717dup
 dbSNP gnomAD v2 gnomAD v4
16g.56833337G>ACA395990217NUP93c.1468G>A (p.Val490Ile)
c.1099G>A (p.Val367Ile)
n.710G>A
 gnomAD v4
16g.56833337G>CCA395990218NUP93c.1468G>C (p.Val490Leu)
c.1099G>C (p.Val367Leu)
n.710G>C
 gnomAD v4
16g.56833337G>TCA395990219NUP93c.1468G>T (p.Val490Phe)
c.1099G>T (p.Val367Phe)
n.710G>T
16g.56833338T>ACA395990220NUP93c.1469T>A (p.Val490Asp)
c.1100T>A (p.Val367Asp)
n.711T>A
16g.56833338T>CCA395990222NUP93c.1469T>C (p.Val490Ala)
c.1100T>C (p.Val367Ala)
n.711T>C
 gnomAD v4
16g.56833338T>GCA395990221NUP93c.1469T>G (p.Val490Gly)
c.1100T>G (p.Val367Gly)
n.711T>G
16g.56833339C>ACA495600407NUP93c.1470C>A (p.Val490=)
c.1101C>A (p.Val367=)
n.712C>A
16g.56833339C=CA2224332249NUP93c.1470C= (p.Val490=)
c.1101C= (p.Val367=)
n.712C=
16g.56833339C>GCA495600406NUP93c.1470C>G (p.Val490=)
c.1101C>G (p.Val367=)
n.712C>G
 gnomAD v4
16g.56833339C>TCA495600405NUP93c.1470C>T (p.Val490=)
c.1101C>T (p.Val367=)
n.712C>T
 dbSNP COSMIC
16g.56833340C>ACA395990223NUP93c.1471C>A (p.His491Asn)
c.1102C>A (p.His368Asn)
n.713C>A
16g.56833340C=CA2224332250NUP93c.1471C= (p.His491=)
c.1102C= (p.His368=)
n.713C=
16g.56833340C>GCA395990224NUP93c.1471C>G (p.His491Asp)
c.1102C>G (p.His368Asp)
n.713C>G
 dbSNP
16g.56833340C>TCA395990225NUP93c.1471C>T (p.His491Tyr)
c.1102C>T (p.His368Tyr)
n.713C>T
16g.56833341A=CA2224332251NUP93c.1472A= (p.His491=)
c.1103A= (p.His368=)
n.714A=
16g.56833341A>CCA395990226NUP93c.1472A>C (p.His491Pro)
c.1103A>C (p.His368Pro)
n.714A>C
16g.56833341A>GCA395990228NUP93c.1472A>G (p.His491Arg)
c.1103A>G (p.His368Arg)
n.714A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833341A>TCA395990230NUP93c.1472A>T (p.His491Leu)
c.1103A>T (p.His368Leu)
n.714A>T
16g.56833342T>ACA395990232NUP93c.1473T>A (p.His491Gln)
c.1104T>A (p.His368Gln)
n.715T>A
16g.56833342T>CCA495600408NUP93c.1473T>C (p.His491=)
c.1104T>C (p.His368=)
n.715T>C
16g.56833342T>GCA395990234NUP93c.1473T>G (p.His491Gln)
c.1104T>G (p.His368Gln)
n.715T>G
 dbSNP gnomAD v2 gnomAD v4
16g.56833342T=CA2224332252NUP93c.1473T= (p.His491=)
c.1104T= (p.His368=)
n.715T=
16g.56833343G>ACA395990237NUP93c.1474G>A (p.Val492Ile)
c.1105G>A (p.Val369Ile)
n.716G>A
 dbSNP gnomAD v3 gnomAD v4
16g.56833343G>CCA395990238NUP93c.1474G>C (p.Val492Leu)
c.1105G>C (p.Val369Leu)
n.716G>C
16g.56833343G=CA2224332253NUP93c.1474G= (p.Val492=)
c.1105G= (p.Val369=)
n.716G=
16g.56833343G>TCA395990240NUP93c.1474G>T (p.Val492Leu)
c.1105G>T (p.Val369Leu)
n.716G>T
16g.56833344T>ACA395990244NUP93c.1475T>A (p.Val492Glu)
c.1106T>A (p.Val369Glu)
n.717T>A
16g.56833344T>CCA395990246NUP93c.1475T>C (p.Val492Ala)
c.1106T>C (p.Val369Ala)
n.717T>C
16g.56833344T>GCA395990243NUP93c.1475T>G (p.Val492Gly)
c.1106T>G (p.Val369Gly)
n.717T>G
16g.56833345A=CA2224332254NUP93c.1476A= (p.Val492=)
c.1107A= (p.Val369=)
n.718A=
16g.56833345A>CCA495600409NUP93c.1476A>C (p.Val492=)
c.1107A>C (p.Val369=)
n.718A>C
 gnomAD v4
16g.56833345A>GCA8068437NUP93c.1476A>G (p.Val492=)
c.1107A>G (p.Val369=)
n.718A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833345A>TCA8068436NUP93c.1476A>T (p.Val492=)
c.1107A>T (p.Val369=)
n.718A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833346G>ACA395990252NUP93c.1477G>A (p.Ala493Thr)
c.1108G>A (p.Ala370Thr)
n.719G>A
 dbSNP gnomAD v3 gnomAD v4
16g.56833346G>CCA395990253NUP93c.1477G>C (p.Ala493Pro)
c.1108G>C (p.Ala370Pro)
n.719G>C
16g.56833346G=CA2224332255NUP93c.1477G= (p.Ala493=)
c.1108G= (p.Ala370=)
n.719G=
16g.56833346G>TCA395990255NUP93c.1477G>T (p.Ala493Ser)
c.1108G>T (p.Ala370Ser)
n.719G>T
16g.56833347C>ACA395990258NUP93c.1478C>A (p.Ala493Glu)
c.1109C>A (p.Ala370Glu)
n.720C>A
16g.56833347C=CA2224332256NUP93c.1478C= (p.Ala493=)
c.1109C= (p.Ala370=)
n.720C=
16g.56833347C>GCA395990259NUP93c.1478C>G (p.Ala493Gly)
c.1109C>G (p.Ala370Gly)
n.720C>G
16g.56833347C>TCA395990261NUP93c.1478C>T (p.Ala493Val)
c.1109C>T (p.Ala370Val)
n.720C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833348A=CA2224332257NUP93c.1479A= (p.Ala493=)
c.1110A= (p.Ala370=)
n.721A=
16g.56833348A>CCA495600410NUP93c.1479A>C (p.Ala493=)
c.1110A>C (p.Ala370=)
n.721A>C
16g.56833348A>GCA8068438NUP93c.1479A>G (p.Ala493=)
c.1110A>G (p.Ala370=)
n.721A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833348A>TCA495600411NUP93c.1479A>T (p.Ala493=)
c.1110A>T (p.Ala370=)
n.721A>T
 gnomAD v4
16g.56833349C>ACA395990265NUP93c.1480C>A (p.Leu494Met)
c.1111C>A (p.Leu371Met)
n.722C>A
16g.56833349C>GCA395990266NUP93c.1480C>G (p.Leu494Val)
c.1111C>G (p.Leu371Val)
n.722C>G
16g.56833349C>TCA495600412NUP93c.1480C>T (p.Leu494=)
c.1111C>T (p.Leu371=)
n.722C>T
16g.56833350T>ACA395990268NUP93c.1481T>A (p.Leu494Gln)
c.1112T>A (p.Leu371Gln)
n.723T>A
16g.56833350T>CCA395990269NUP93c.1481T>C (p.Leu494Pro)
c.1112T>C (p.Leu371Pro)
n.723T>C
 dbSNP gnomAD v2 gnomAD v4
16g.56833350T>GCA395990271NUP93c.1481T>G (p.Leu494Arg)
c.1112T>G (p.Leu371Arg)
n.723T>G
16g.56833350T=CA2224332258NUP93c.1481T= (p.Leu494=)
c.1112T= (p.Leu371=)
n.723T=
16g.56833351G>ACA495600413NUP93c.1482G>A (p.Leu494=)
c.1113G>A (p.Leu371=)
n.724G>A
 COSMIC
16g.56833351G>CCA495600414NUP93c.1482G>C (p.Leu494=)
c.1113G>C (p.Leu371=)
n.724G>C
16g.56833351G>TCA495600415NUP93c.1482G>T (p.Leu494=)
c.1113G>T (p.Leu371=)
n.724G>T
16g.56833352G>ACA395990275NUP93c.1483G>A (p.Val495Met)
c.1114G>A (p.Val372Met)
n.725G>A
 gnomAD v4
16g.56833352G>CCA395990274NUP93c.1483G>C (p.Val495Leu)
c.1114G>C (p.Val372Leu)
n.725G>C
16g.56833352G>TCA395990273NUP93c.1483G>T (p.Val495Leu)
c.1114G>T (p.Val372Leu)
n.725G>T
16g.56833353T>ACA395990278NUP93c.1484T>A (p.Val495Glu)
c.1115T>A (p.Val372Glu)
n.726T>A
16g.56833353T>CCA395990280NUP93c.1484T>C (p.Val495Ala)
c.1115T>C (p.Val372Ala)
n.726T>C
16g.56833353T>GCA395990282NUP93c.1484T>G (p.Val495Gly)
c.1115T>G (p.Val372Gly)
n.726T>G
16g.56833354G>ACA495600416NUP93c.1485G>A (p.Val495=)
c.1116G>A (p.Val372=)
n.727G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56833354G>CCA495600417NUP93c.1485G>C (p.Val495=)
c.1116G>C (p.Val372=)
n.727G>C
16g.56833354G=CA2224332259NUP93c.1485G= (p.Val495=)
c.1116G= (p.Val372=)
n.727G=
16g.56833354G>TCA495600418NUP93c.1485G>T (p.Val495=)
c.1116G>T (p.Val372=)
n.727G>T
16g.56833355C>ACA395990284NUP93c.1486C>A (p.Leu496Met)
c.1117C>A (p.Leu373Met)
n.728C>A
16g.56833355C>GCA395990286NUP93c.1486C>G (p.Leu496Val)
c.1117C>G (p.Leu373Val)
n.728C>G
16g.56833355C>TCA495600419NUP93c.1486C>T (p.Leu496=)
c.1117C>T (p.Leu373=)
n.728C>T
16g.56833356T>ACA395990289NUP93c.1487T>A (p.Leu496Gln)
c.1118T>A (p.Leu373Gln)
n.729T>A
16g.56833356T>CCA395990290NUP93c.1487T>C (p.Leu496Pro)
c.1118T>C (p.Leu373Pro)
n.729T>C
 gnomAD v4
16g.56833356T>GCA395990291NUP93c.1487T>G (p.Leu496Arg)
c.1118T>G (p.Leu373Arg)
n.729T>G
16g.56833357G>ACA8068439NUP93c.1488G>A (p.Leu496=)
c.1119G>A (p.Leu373=)
n.730G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833357G>CCA8068440NUP93c.1488G>C (p.Leu496=)
c.1119G>C (p.Leu373=)
n.730G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833357G=CA2224332260NUP93c.1488G= (p.Leu496=)
c.1119G= (p.Leu373=)
n.730G=
16g.56833357G>TCA495600420NUP93c.1488G>T (p.Leu496=)
c.1119G>T (p.Leu373=)
n.730G>T
16g.56833358T>ACA395990296NUP93c.1489T>A (p.Phe497Ile)
c.1120T>A (p.Phe374Ile)
n.731T>A
16g.56833358T>CCA395990298NUP93c.1489T>C (p.Phe497Leu)
c.1120T>C (p.Phe374Leu)
n.731T>C
16g.56833358T>GCA395990300NUP93c.1489T>G (p.Phe497Val)
c.1120T>G (p.Phe374Val)
n.731T>G
16g.56833359T>ACA395990304NUP93c.1490T>A (p.Phe497Tyr)
c.1121T>A (p.Phe374Tyr)
n.732T>A
 gnomAD v4
16g.56833359T>CCA395990303NUP93c.1490T>C (p.Phe497Ser)
c.1121T>C (p.Phe374Ser)
n.732T>C
16g.56833359T>GCA395990302NUP93c.1490T>G (p.Phe497Cys)
c.1121T>G (p.Phe374Cys)
n.732T>G
16g.56833360T>ACA395990305NUP93c.1491T>A (p.Phe497Leu)
c.1122T>A (p.Phe374Leu)
n.733T>A
16g.56833360T>CCA495600421NUP93c.1491T>C (p.Phe497=)
c.1122T>C (p.Phe374=)
n.733T>C
16g.56833360T>GCA395990306NUP93c.1491T>G (p.Phe497Leu)
c.1122T>G (p.Phe374Leu)
n.733T>G
16g.56833361G>ACA395990308NUP93c.1492G>A (p.Glu498Lys)
c.1123G>A (p.Glu375Lys)
n.734G>A
16g.56833361G>CCA395990311NUP93c.1492G>C (p.Glu498Gln)
c.1123G>C (p.Glu375Gln)
n.734G>C
16g.56833361G>TCA395990309NUP93c.1492G>T (p.Glu498Ter)
c.1123G>T (p.Glu375Ter)
n.734G>T
16g.56833362A>CCA395990314NUP93c.1493A>C (p.Glu498Ala)
c.1124A>C (p.Glu375Ala)
n.735A>C
16g.56833362A>GCA395990318NUP93c.1493A>G (p.Glu498Gly)
c.1124A>G (p.Glu375Gly)
n.735A>G
16g.56833362A>TCA395990316NUP93c.1493A>T (p.Glu498Val)
c.1124A>T (p.Glu375Val)
n.735A>T
16g.56833363G>ACA495600422NUP93c.1494G>A (p.Glu498=)
c.1125G>A (p.Glu375=)
n.736G>A
 gnomAD v4
16g.56833363G>CCA395990320NUP93c.1494G>C (p.Glu498Asp)
c.1125G>C (p.Glu375Asp)
n.736G>C
16g.56833363G=CA2224332261NUP93c.1494G= (p.Glu498=)
c.1125G= (p.Glu375=)
n.736G=
16g.56833363G>TCA8068441NUP93c.1494G>T (p.Glu498Asp)
c.1125G>T (p.Glu375Asp)
n.736G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833364C>ACA395990324NUP93c.1495C>A (p.Leu499Met)
c.1126C>A (p.Leu376Met)
n.737C>A
16g.56833364C>GCA395990325NUP93c.1495C>G (p.Leu499Val)
c.1126C>G (p.Leu376Val)
n.737C>G
16g.56833364C>TCA495600423NUP93c.1495C>T (p.Leu499=)
c.1126C>T (p.Leu376=)
n.737C>T
16g.56833365T>ACA395990327NUP93c.1496T>A (p.Leu499Gln)
c.1127T>A (p.Leu376Gln)
n.738T>A
16g.56833365T>CCA395990329NUP93c.1496T>C (p.Leu499Pro)
c.1127T>C (p.Leu376Pro)
n.738T>C
 gnomAD v4
16g.56833365T>GCA395990330NUP93c.1496T>G (p.Leu499Arg)
c.1127T>G (p.Leu376Arg)
n.738T>G
16g.56833366G>ACA495600424NUP93c.1497G>A (p.Leu499=)
c.1128G>A (p.Leu376=)
n.739G>A
 gnomAD v4
16g.56833366G>CCA495600425NUP93c.1497G>C (p.Leu499=)
c.1128G>C (p.Leu376=)
n.739G>C
16g.56833366G>TCA495600426NUP93c.1497G>T (p.Leu499=)
c.1128G>T (p.Leu376=)
n.739G>T
16g.56833367A=CA2224332262NUP93c.1498A= (p.Lys500=)
c.1129A= (p.Lys377=)
n.740A=
16g.56833367A>CCA281497239NUP93c.1498A>C (p.Lys500Gln)
c.1129A>C (p.Lys377Gln)
n.740A>C
 dbSNP
16g.56833367A>GCA395990333NUP93c.1498A>G (p.Lys500Glu)
c.1129A>G (p.Lys377Glu)
n.740A>G
16g.56833367A>TCA395990335NUP93c.1498A>T (p.Lys500Ter)
c.1129A>T (p.Lys377Ter)
n.740A>T
16g.56833368A>CCA395990338NUP93c.1499A>C (p.Lys500Thr)
c.1130A>C (p.Lys377Thr)
n.741A>C
16g.56833368A>GCA395990340NUP93c.1499A>G (p.Lys500Arg)
c.1130A>G (p.Lys377Arg)
n.741A>G
16g.56833368A>TCA395990341NUP93c.1499A>T (p.Lys500Met)
c.1130A>T (p.Lys377Met)
n.741A>T
16g.56833369G>ACA495600427NUP93c.1500G>A (p.Lys500=)
c.1131G>A (p.Lys377=)
n.742G>A
16g.56833369G>CCA395990345NUP93c.1500G>C (p.Lys500Asn)
c.1131G>C (p.Lys377Asn)
n.742G>C
16g.56833369G>TCA395990344NUP93c.1500G>T (p.Lys500Asn)
c.1131G>T (p.Lys377Asn)
n.742G>T
16g.56833370C>ACA395990347NUP93c.1501C>A (p.Leu501Met)
c.1132C>A (p.Leu378Met)
n.743C>A
 gnomAD v4
16g.56833370C>GCA395990349NUP93c.1501C>G (p.Leu501Val)
c.1132C>G (p.Leu378Val)
n.743C>G
16g.56833370C>TCA495600428NUP93c.1501C>T (p.Leu501=)
c.1132C>T (p.Leu378=)
n.743C>T
16g.56833371T>ACA395990351NUP93c.1502T>A (p.Leu501Gln)
c.1133T>A (p.Leu378Gln)
n.744T>A
16g.56833371T>CCA395990353NUP93c.1502T>C (p.Leu501Pro)
c.1133T>C (p.Leu378Pro)
n.744T>C
16g.56833371T>GCA395990355NUP93c.1502T>G (p.Leu501Arg)
c.1133T>G (p.Leu378Arg)
n.744T>G
16g.56833372G>ACA495600429NUP93c.1503G>A (p.Leu501=)
c.1134G>A (p.Leu378=)
n.745G>A
16g.56833372G>CCA495600430NUP93c.1503G>C (p.Leu501=)
c.1134G>C (p.Leu378=)
n.745G>C
16g.56833372G>TCA495600431NUP93c.1503G>T (p.Leu501=)
c.1134G>T (p.Leu378=)
n.745G>T
16g.56833373C>ACA395990357NUP93c.1504C>A (p.Leu502Ile)
c.1135C>A (p.Leu379Ile)
n.746C>A
16g.56833373C>GCA395990358NUP93c.1504C>G (p.Leu502Val)
c.1135C>G (p.Leu379Val)
n.746C>G
16g.56833373C>TCA395990360NUP93c.1504C>T (p.Leu502Phe)
c.1135C>T (p.Leu379Phe)
n.746C>T
16g.56833374T>ACA395990362NUP93c.1505T>A (p.Leu502His)
c.1136T>A (p.Leu379His)
n.747T>A
16g.56833374T>CCA395990364NUP93c.1505T>C (p.Leu502Pro)
c.1136T>C (p.Leu379Pro)
n.747T>C
 gnomAD v4
16g.56833374T>GCA395990366NUP93c.1505T>G (p.Leu502Arg)
c.1136T>G (p.Leu379Arg)
n.747T>G
16g.56833375T>ACA495600432NUP93c.1506T>A (p.Leu502=)
c.1137T>A (p.Leu379=)
n.748T>A
16g.56833375T>CCA495600433NUP93c.1506T>C (p.Leu502=)
c.1137T>C (p.Leu379=)
n.748T>C
16g.56833375T>GCA495600434NUP93c.1506T>G (p.Leu502=)
c.1137T>G (p.Leu379=)
n.748T>G
16g.56833376T>ACA395990367NUP93c.1507T>A (p.Leu503Ile)
c.1138T>A (p.Leu380Ile)
n.749T>A
16g.56833376T>CCA495600435NUP93c.1507T>C (p.Leu503=)
c.1138T>C (p.Leu380=)
n.749T>C
16g.56833376T>GCA395990369NUP93c.1507T>G (p.Leu503Val)
c.1138T>G (p.Leu380Val)
n.749T>G
16g.56833377T>ACA395990372NUP93c.1508T>A (p.Leu503Ter)
c.1139T>A (p.Leu380Ter)
n.750T>A
16g.56833377T>CCA395990376NUP93c.1508T>C (p.Leu503Ser)
c.1139T>C (p.Leu380Ser)
n.750T>C
16g.56833377T>GCA395990374NUP93c.1508T>G (p.Leu503Ter)
c.1139T>G (p.Leu380Ter)
n.750T>G
16g.56833378A>CCA395990378NUP93c.1509A>C (p.Leu503Phe)
c.1140A>C (p.Leu380Phe)
n.751A>C
16g.56833378A>GCA495600436NUP93c.1509A>G (p.Leu503=)
c.1140A>G (p.Leu380=)
n.751A>G
16g.56833378A>TCA395990380NUP93c.1509A>T (p.Leu503Phe)
c.1140A>T (p.Leu380Phe)
n.751A>T
16g.56833379A>CCA395990382NUP93c.1510A>C (p.Lys504Gln)
c.1141A>C (p.Lys381Gln)
n.752A>C
16g.56833379A>GCA395990384NUP93c.1510A>G (p.Lys504Glu)
c.1141A>G (p.Lys381Glu)
n.752A>G
16g.56833379A>TCA395990386NUP93c.1510A>T (p.Lys504Ter)
c.1141A>T (p.Lys381Ter)
n.752A>T
16g.56833380A>CCA395990388NUP93c.1511A>C (p.Lys504Thr)
c.1142A>C (p.Lys381Thr)
n.753A>C
16g.56833380A>GCA395990390NUP93c.1511A>G (p.Lys504Arg)
c.1142A>G (p.Lys381Arg)
n.753A>G
16g.56833380A>TCA395990391NUP93c.1511A>T (p.Lys504Met)
c.1142A>T (p.Lys381Met)
n.753A>T
16g.56833381G>ACA495600437NUP93c.1512G>A (p.Lys504=)
c.1143G>A (p.Lys381=)
n.754G>A
16g.56833381G>CCA395990393NUP93c.1512G>C (p.Lys504Asn)
c.1143G>C (p.Lys381Asn)
n.754G>C
16g.56833381G>TCA395990395NUP93c.1512G>T (p.Lys504Asn)
c.1143G>T (p.Lys381Asn)
n.754G>T
16g.56833382T>ACA395990401NUP93c.1513T>A (p.Ser505Thr)
c.1144T>A (p.Ser382Thr)
n.755T>A
16g.56833382T>CCA395990399NUP93c.1513T>C (p.Ser505Pro)
c.1144T>C (p.Ser382Pro)
n.755T>C
16g.56833382T>GCA395990397NUP93c.1513T>G (p.Ser505Ala)
c.1144T>G (p.Ser382Ala)
n.755T>G
 gnomAD v4
16g.56833383C>ACA395990403NUP93c.1514C>A (p.Ser505Tyr)
c.1145C>A (p.Ser382Tyr)
n.756C>A
16g.56833383C>GCA395990405NUP93c.1514C>G (p.Ser505Cys)
c.1145C>G (p.Ser382Cys)
n.756C>G
16g.56833383C>TCA395990407NUP93c.1514C>T (p.Ser505Phe)
c.1145C>T (p.Ser382Phe)
n.756C>T
16g.56833384delCA2576001280NUP93c.1515del (p.Ser506LeufsTer21)
c.1146del (p.Ser383LeufsTer21)
n.757del
16g.56833384C>ACA495600439NUP93c.1515C>A (p.Ser505=)
c.1146C>A (p.Ser382=)
n.757C>A
16g.56833384C>GCA495600440NUP93c.1515C>G (p.Ser505=)
c.1146C>G (p.Ser382=)
n.757C>G
 gnomAD v4
16g.56833384C>TCA495600441NUP93c.1515C>T (p.Ser505=)
c.1146C>T (p.Ser382=)
n.757C>T
16g.56833385T>ACA395990409NUP93c.1516T>A (p.Ser506Thr)
c.1147T>A (p.Ser383Thr)
n.758T>A
16g.56833385T>CCA395990412NUP93c.1516T>C (p.Ser506Pro)
c.1147T>C (p.Ser383Pro)
n.758T>C
 gnomAD v4
16g.56833385T>GCA395990415NUP93c.1516T>G (p.Ser506Ala)
c.1147T>G (p.Ser383Ala)
n.758T>G
16g.56833386C>ACA395990418NUP93c.1517C>A (p.Ser506Tyr)
c.1148C>A (p.Ser383Tyr)
n.759C>A
 gnomAD v4
16g.56833386C=CA2224332263NUP93c.1517C= (p.Ser506=)
c.1148C= (p.Ser383=)
n.759C=
16g.56833386C>GCA395990420NUP93c.1517C>G (p.Ser506Cys)
c.1148C>G (p.Ser383Cys)
n.759C>G
 dbSNP
16g.56833386C>TCA395990423NUP93c.1517C>T (p.Ser506Phe)
c.1148C>T (p.Ser383Phe)
n.759C>T
16g.56833387T>ACA495600444NUP93c.1518T>A (p.Ser506=)
c.1149T>A (p.Ser383=)
n.760T>A
16g.56833387T>CCA495600445NUP93c.1518T>C (p.Ser506=)
c.1149T>C (p.Ser383=)
n.760T>C
16g.56833387T>GCA495600446NUP93c.1518T>G (p.Ser506=)
c.1149T>G (p.Ser383=)
n.760T>G
16g.56833388G>ACA395990426NUP93c.1519G>A (p.Gly507Arg)
c.1150G>A (p.Gly384Arg)
n.761G>A
 ClinVar
16g.56833388G>CCA395990429NUP93c.1519G>C (p.Gly507Arg)
c.1150G>C (p.Gly384Arg)
n.761G>C
16g.56833388G>TCA395990431NUP93c.1519G>T (p.Gly507Ter)
c.1150G>T (p.Gly384Ter)
n.761G>T
16g.56833389G>ACA395990438NUP93c.1520G>A (p.Gly507Glu)
c.1151G>A (p.Gly384Glu)
n.762G>A
16g.56833389G>CCA395990441NUP93c.1520G>C (p.Gly507Ala)
c.1151G>C (p.Gly384Ala)
n.762G>C
16g.56833389G>TCA395990436NUP93c.1520G>T (p.Gly507Val)
c.1151G>T (p.Gly384Val)
n.762G>T
16g.56833390A>CCA495600449NUP93c.1521A>C (p.Gly507=)
c.1152A>C (p.Gly384=)
16g.56833390A>GCA495600451NUP93c.1521A>G (p.Gly507=)
c.1152A>G (p.Gly384=)
16g.56833390A>TCA495600450NUP93c.1521A>T (p.Gly507=)
c.1152A>T (p.Gly384=)
16g.56833391C>ACA395990450NUP93c.1522C>A (p.Gln508Lys)
c.1153C>A (p.Gln385Lys)
 gnomAD v4
16g.56833391C=CA2224332265NUP93c.1522C= (p.Gln508=)
c.1153C= (p.Gln385=)
16g.56833391C>GCA395990444NUP93c.1522C>G (p.Gln508Glu)
c.1153C>G (p.Gln385Glu)
 gnomAD v4
16g.56833391C>TCA8068443NUP93c.1522C>T (p.Gln508Ter)
c.1153C>T (p.Gln385Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833391_56833392delinsCACA2224332264NUP93c.1522_1523delinsCA (p.Gln508=)
c.1153_1154delinsCA (p.Gln385=)
16g.56833392delCA8068442NUP93c.1523del (p.Gln508ArgfsTer19)
c.1154del (p.Gln385ArgfsTer19)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833392A=CA2224332266NUP93c.1523A= (p.Gln508=)
c.1154A= (p.Gln385=)
16g.56833392A>CCA395990454NUP93c.1523A>C (p.Gln508Pro)
c.1154A>C (p.Gln385Pro)
16g.56833392A>GCA8068444NUP93c.1523A>G (p.Gln508Arg)
c.1154A>G (p.Gln385Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56833392A>TCA395990460NUP93c.1523A>T (p.Gln508Leu)
c.1154A>T (p.Gln385Leu)
16g.56833393delCA395990483NUP93c.1524del (p.Ser509ValfsTer18)
c.1155del (p.Ser386ValfsTer18)
16g.56833393G>ACA495600452NUP93c.1524G>A (p.Gln508=)
c.1155G>A (p.Gln385=)
16g.56833393G>CCA395990471NUP93c.1524G>C (p.Gln508His)
c.1155G>C (p.Gln385His)
16g.56833393G>TCA395990480NUP93c.1524G>T (p.Gln508His)
c.1155G>T (p.Gln385His)
 gnomAD v4 COSMIC
16g.56833394A>CCA395990487NUP93c.1525A>C (p.Ser509Arg)
c.1156A>C (p.Ser386Arg)
16g.56833394A>GCA395990489NUP93c.1525A>G (p.Ser509Gly)
c.1156A>G (p.Ser386Gly)
 gnomAD v4
16g.56833394A>TCA395990492NUP93c.1525A>T (p.Ser509Cys)
c.1156A>T (p.Ser386Cys)
16g.56833395G>ACA395990501NUP93c.1526G>A (p.Ser509Asn)
c.1157G>A (p.Ser386Asn)
 gnomAD v4
16g.56833395G>CCA395990498NUP93c.1526G>C (p.Ser509Thr)
c.1157G>C (p.Ser386Thr)
16g.56833395G>TCA395990495NUP93c.1526G>T (p.Ser509Ile)
c.1157G>T (p.Ser386Ile)
16g.56833396T>ACA395990506NUP93c.1527T>A (p.Ser509Arg)
c.1158T>A (p.Ser386Arg)
16g.56833396T>CCA495600453NUP93c.1527T>C (p.Ser509=)
c.1158T>C (p.Ser386=)
16g.56833396T>GCA281497254NUP93c.1527T>G (p.Ser509Arg)
c.1158T>G (p.Ser386Arg)
 dbSNP
16g.56833396T=CA2224332267NUP93c.1527T= (p.Ser509=)
c.1158T= (p.Ser386=)
16g.56833397G>ACA395990514NUP93c.1528G>A (p.Ala510Thr)
c.1159G>A (p.Ala387Thr)
16g.56833397G>CCA395990516NUP93c.1528G>C (p.Ala510Pro)
c.1159G>C (p.Ala387Pro)
16g.56833397G>TCA395990519NUP93c.1528G>T (p.Ala510Ser)
c.1159G>T (p.Ala387Ser)
16g.56833398C>ACA395990522NUP93c.1529C>A (p.Ala510Asp)
c.1160C>A (p.Ala387Asp)
 gnomAD v4
16g.56833398C>GCA395990525NUP93c.1529C>G (p.Ala510Gly)
c.1160C>G (p.Ala387Gly)
16g.56833398C>TCA395990528NUP93c.1529C>T (p.Ala510Val)
c.1160C>T (p.Ala387Val)
16g.56833399T>ACA495600455NUP93c.1530T>A (p.Ala510=)
c.1161T>A (p.Ala387=)
16g.56833399T>CCA495600456NUP93c.1530T>C (p.Ala510=)
c.1161T>C (p.Ala387=)
 dbSNP gnomAD v4
16g.56833399T>GCA8068445NUP93c.1530T>G (p.Ala510=)
c.1161T>G (p.Ala387=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833399T=CA2224332268NUP93c.1530T= (p.Ala510=)
c.1161T= (p.Ala387=)
16g.56833400delCA2633366392NUP93c.1531del (p.Gln511SerfsTer16)
c.1162del (p.Gln388SerfsTer16)
 gnomAD v4
16g.56833400C>ACA281497255NUP93c.1531C>A (p.Gln511Lys)
c.1162C>A (p.Gln388Lys)
 dbSNP
16g.56833400C=CA2224332269NUP93c.1531C= (p.Gln511=)
c.1162C= (p.Gln388=)
16g.56833400C>GCA395990536NUP93c.1531C>G (p.Gln511Glu)
c.1162C>G (p.Gln388Glu)
 gnomAD v4
16g.56833400C>TCA395990539NUP93c.1531C>T (p.Gln511Ter)
c.1162C>T (p.Gln388Ter)
16g.56833401A>CCA395990549NUP93c.1532A>C (p.Gln511Pro)
c.1163A>C (p.Gln388Pro)
16g.56833401A>GCA395990547NUP93c.1532A>G (p.Gln511Arg)
c.1163A>G (p.Gln388Arg)
16g.56833401A>TCA395990544NUP93c.1532A>T (p.Gln511Leu)
c.1163A>T (p.Gln388Leu)
16g.56833402G>ACA495600457NUP93c.1533G>A (p.Gln511=)
c.1164G>A (p.Gln388=)
 gnomAD v4
16g.56833402G>CCA395990552NUP93c.1533G>C (p.Gln511His)
c.1164G>C (p.Gln388His)
 dbSNP gnomAD v2 gnomAD v4
16g.56833402G=CA2224332270NUP93c.1533G= (p.Gln511=)
c.1164G= (p.Gln388=)
16g.56833402G>TCA395990555NUP93c.1533G>T (p.Gln511His)
c.1164G>T (p.Gln388His)
16g.56833403C>ACA395990559NUP93c.1534C>A (p.Leu512Ile)
c.1165C>A (p.Leu389Ile)
 gnomAD v4
16g.56833403C>GCA395990562NUP93c.1534C>G (p.Leu512Val)
c.1165C>G (p.Leu389Val)
16g.56833403C>TCA395990565NUP93c.1534C>T (p.Leu512Phe)
c.1165C>T (p.Leu389Phe)
 gnomAD v4
16g.56833404T>ACA395990571NUP93c.1535T>A (p.Leu512His)
c.1166T>A (p.Leu389His)
16g.56833404T>CCA8068446NUP93c.1535T>C (p.Leu512Pro)
c.1166T>C (p.Leu389Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56833404T>GCA395990568NUP93c.1535T>G (p.Leu512Arg)
c.1166T>G (p.Leu389Arg)
16g.56833404T=CA2224332271NUP93c.1535T= (p.Leu512=)
c.1166T= (p.Leu389=)
16g.56833405C>ACA495600458NUP93c.1536C>A (p.Leu512=)
c.1167C>A (p.Leu389=)
16g.56833405C=CA2224332272NUP93c.1536C= (p.Leu512=)
c.1167C= (p.Leu389=)
16g.56833405C>GCA495600459NUP93c.1536C>G (p.Leu512=)
c.1167C>G (p.Leu389=)
16g.56833405C>TCA495600460NUP93c.1536C>T (p.Leu512=)
c.1167C>T (p.Leu389=)
 dbSNP
16g.56833406dupCA622338452NUP93c.1537dup (p.Leu513ProfsTer7)
c.1168dup (p.Leu390ProfsTer7)
 dbSNP gnomAD v2
16g.56833406C>ACA395990574NUP93c.1537C>A (p.Leu513Ile)
c.1168C>A (p.Leu390Ile)
16g.56833406C=CA2224332273NUP93c.1537C= (p.Leu513=)
c.1168C= (p.Leu390=)
16g.56833406C>GCA395990577NUP93c.1537C>G (p.Leu513Val)
c.1168C>G (p.Leu390Val)
 dbSNP gnomAD v3 gnomAD v4
16g.56833406C>TCA281497265NUP93c.1537C>T (p.Leu513Phe)
c.1168C>T (p.Leu390Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56833407G>ACA357849NUP93c.1537+1G>A (n.1537+1G>A)
c.1168+1G>A (n.1168+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56833407G>CCA395990585NUP93c.1537+1G>C (n.1537+1G>C)
c.1168+1G>C (n.1168+1G>C)
16g.56833407G=CA2224332274NUP93c.1537+1G= (n.1537+1G=)
c.1168+1G= (n.1168+1G=)
16g.56833407G>TCA395990586NUP93c.1537+1G>T (n.1537+1G>T)
c.1168+1G>T (n.1168+1G>T)
 gnomAD v4
16g.56833408T>ACA395990590NUP93c.1537+2T>A (n.1537+2T>A)
c.1168+2T>A (n.1168+2T>A)
16g.56833408T>CCA395990595NUP93c.1537+2T>C (n.1537+2T>C)
c.1168+2T>C (n.1168+2T>C)
16g.56833408T>GCA395990592NUP93c.1537+2T>G (n.1537+2T>G)
c.1168+2T>G (n.1168+2T>G)
16g.56833409G>ACA2633366401NUP93c.1537+3G>A (n.1537+3G>A)
c.1168+3G>A (n.1168+3G>A)
 gnomAD v4
16g.56833409G>TCA2633366400NUP93c.1537+3G>T (n.1537+3G>T)
c.1168+3G>T (n.1168+3G>T)
 gnomAD v4
16g.56833410A>GCA2633366402NUP93c.1537+4A>G (n.1537+4A>G)
c.1168+4A>G (n.1168+4A>G)
 gnomAD v4
16g.56833411G>CCA2576001281NUP93c.1537+5G>C (n.1537+5G>C)
c.1168+5G>C (n.1168+5G>C)
16g.56833414T>CCA2633366403NUP93c.1537+8T>C (n.1537+8T>C)
c.1168+8T>C (n.1168+8T>C)
 gnomAD v4
16g.56833417G>TCA2633366404NUP93c.1537+11G>T (n.1537+11G>T)
c.1168+11G>T (n.1168+11G>T)
 gnomAD v4
16g.56833418G>TCA2633366405NUP93c.1537+12G>T (n.1537+12G>T)
c.1168+12G>T (n.1168+12G>T)
 gnomAD v4
16g.56833420A>CCA2633366406NUP93c.1537+14A>C (n.1537+14A>C)
c.1168+14A>C (n.1168+14A>C)
 gnomAD v4

Number of alleles fetched