Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52306128C>ACA480065473KRT81,KRT86c.1095C>A (p.Arg365=)
c.1326C>A (p.Arg442=)
c.-212+2083G>T (n.-212+2083G>T)
12g.52306128C=CA2036432461KRT81,KRT86c.1095C= (p.Arg365=)
c.1326C= (p.Arg442=)
c.-212+2083G= (n.-212+2083G=)
12g.52306128C>GCA480065474KRT81,KRT86c.1095C>G (p.Arg365=)
c.1326C>G (p.Arg442=)
c.-212+2083G>C (n.-212+2083G>C)
 gnomAD v4
12g.52306128C>TCA480065476KRT81,KRT86c.1095C>T (p.Arg365=)
c.1326C>T (p.Arg442=)
c.-212+2083G>A (n.-212+2083G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.52306129T>ACA384918983KRT81,KRT86c.1096T>A (p.Cys366Ser)
c.1327T>A (p.Cys443Ser)
c.-212+2082A>T (n.-212+2082A>T)
12g.52306129T>CCA6577076KRT81,KRT86c.1096T>C (p.Cys366Arg)
c.1327T>C (p.Cys443Arg)
c.-212+2082A>G (n.-212+2082A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306129T>GCA384918982KRT81,KRT86c.1096T>G (p.Cys366Gly)
c.1327T>G (p.Cys443Gly)
c.-212+2082A>C (n.-212+2082A>C)
12g.52306129T=CA2036432462KRT81,KRT86c.1096T= (p.Cys366=)
c.1327T= (p.Cys443=)
c.-212+2082A= (n.-212+2082A=)
12g.52306130G>ACA384918984KRT81,KRT86c.1097G>A (p.Cys366Tyr)
c.1328G>A (p.Cys443Tyr)
c.-212+2081C>T (n.-212+2081C>T)
12g.52306130G>CCA384918985KRT81,KRT86c.1097G>C (p.Cys366Ser)
c.1328G>C (p.Cys443Ser)
c.-212+2081C>G (n.-212+2081C>G)
12g.52306130G>TCA384918986KRT81,KRT86c.1097G>T (p.Cys366Phe)
c.1328G>T (p.Cys443Phe)
c.-212+2081C>A (n.-212+2081C>A)
12g.52306131C>ACA384918987KRT81,KRT86c.1098C>A (p.Cys366Ter)
c.1329C>A (p.Cys443Ter)
c.-212+2080G>T (n.-212+2080G>T)
 COSMIC
12g.52306131C>GCA384918988KRT81,KRT86c.1098C>G (p.Cys366Trp)
c.1329C>G (p.Cys443Trp)
c.-212+2080G>C (n.-212+2080G>C)
12g.52306131C>TCA480065478KRT81,KRT86c.1098C>T (p.Cys366=)
c.1329C>T (p.Cys443=)
c.-212+2080G>A (n.-212+2080G>A)
 gnomAD v4
12g.52306132A>CCA384918991KRT81,KRT86c.1099A>C (p.Lys367Gln)
c.1330A>C (p.Lys444Gln)
c.-212+2079T>G (n.-212+2079T>G)
12g.52306132A>GCA384918989KRT81,KRT86c.1099A>G (p.Lys367Glu)
c.1330A>G (p.Lys444Glu)
c.-212+2079T>C (n.-212+2079T>C)
12g.52306132A>TCA384918990KRT81,KRT86c.1099A>T (p.Lys367Ter)
c.1330A>T (p.Lys444Ter)
c.-212+2079T>A (n.-212+2079T>A)
12g.52306133A>CCA384918992KRT81,KRT86c.1100A>C (p.Lys367Thr)
c.1331A>C (p.Lys444Thr)
c.-212+2078T>G (n.-212+2078T>G)
12g.52306133A>GCA384918993KRT81,KRT86c.1100A>G (p.Lys367Arg)
c.1331A>G (p.Lys444Arg)
c.-212+2078T>C (n.-212+2078T>C)
 gnomAD v4
12g.52306133A>TCA384918994KRT81,KRT86c.1100A>T (p.Lys367Met)
c.1331A>T (p.Lys444Met)
c.-212+2078T>A (n.-212+2078T>A)
12g.52306134G>ACA480065480KRT81,KRT86c.1101G>A (p.Lys367=)
c.1332G>A (p.Lys444=)
c.-212+2077C>T (n.-212+2077C>T)
12g.52306134G>CCA384918995KRT81,KRT86c.1101G>C (p.Lys367Asn)
c.1332G>C (p.Lys444Asn)
c.-212+2077C>G (n.-212+2077C>G)
12g.52306134G>TCA384918996KRT81,KRT86c.1101G>T (p.Lys367Asn)
c.1332G>T (p.Lys444Asn)
c.-212+2077C>A (n.-212+2077C>A)
12g.52306135T>ACA384918997KRT81,KRT86c.1102T>A (p.Leu368Met)
c.1333T>A (p.Leu445Met)
c.-212+2076A>T (n.-212+2076A>T)
12g.52306135T>CCA6577077KRT81,KRT86c.1102T>C (p.Leu368=)
c.1333T>C (p.Leu445=)
c.-212+2076A>G (n.-212+2076A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306135T>GCA384918998KRT81,KRT86c.1102T>G (p.Leu368Val)
c.1333T>G (p.Leu445Val)
c.-212+2076A>C (n.-212+2076A>C)
12g.52306135T=CA2036432463KRT81,KRT86c.1102T= (p.Leu368=)
c.1333T= (p.Leu445=)
c.-212+2076A= (n.-212+2076A=)
12g.52306136T>ACA384918999KRT81,KRT86c.1103T>A (p.Leu368Ter)
c.1334T>A (p.Leu445Ter)
c.-212+2075A>T (n.-212+2075A>T)
12g.52306136T>CCA6577078KRT81,KRT86c.1103T>C (p.Leu368Ser)
c.1334T>C (p.Leu445Ser)
c.-212+2075A>G (n.-212+2075A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306136T>GCA384919000KRT81,KRT86c.1103T>G (p.Leu368Trp)
c.1334T>G (p.Leu445Trp)
c.-212+2075A>C (n.-212+2075A>C)
12g.52306136T=CA2036432464KRT81,KRT86c.1103T= (p.Leu368=)
c.1334T= (p.Leu445=)
c.-212+2075A= (n.-212+2075A=)
12g.52306137G>ACA480065487KRT81,KRT86c.1104G>A (p.Leu368=)
c.1335G>A (p.Leu445=)
c.-212+2074C>T (n.-212+2074C>T)
 dbSNP gnomAD v4
12g.52306137G>CCA384919001KRT81,KRT86c.1104G>C (p.Leu368Phe)
c.1335G>C (p.Leu445Phe)
c.-212+2074C>G (n.-212+2074C>G)
12g.52306137G=CA2036432465KRT81,KRT86c.1104G= (p.Leu368=)
c.1335G= (p.Leu445=)
c.-212+2074C= (n.-212+2074C=)
12g.52306137G>TCA384919002KRT81,KRT86c.1104G>T (p.Leu368Phe)
c.1335G>T (p.Leu445Phe)
c.-212+2074C>A (n.-212+2074C>A)
12g.52306138G>ACA384919003KRT81,KRT86c.1105G>A (p.Ala369Thr)
c.1336G>A (p.Ala446Thr)
c.-212+2073C>T (n.-212+2073C>T)
 gnomAD v4
12g.52306138G>CCA384919004KRT81,KRT86c.1105G>C (p.Ala369Pro)
c.1336G>C (p.Ala446Pro)
c.-212+2073C>G (n.-212+2073C>G)
 gnomAD v4
12g.52306138G>TCA384919005KRT81,KRT86c.1105G>T (p.Ala369Ser)
c.1336G>T (p.Ala446Ser)
c.-212+2073C>A (n.-212+2073C>A)
12g.52306139C>ACA384919006KRT81,KRT86c.1106C>A (p.Ala369Asp)
c.1337C>A (p.Ala446Asp)
c.-212+2072G>T (n.-212+2072G>T)
12g.52306139C>GCA384919007KRT81,KRT86c.1106C>G (p.Ala369Gly)
c.1337C>G (p.Ala446Gly)
c.-212+2072G>C (n.-212+2072G>C)
12g.52306139C>TCA384919008KRT81,KRT86c.1106C>T (p.Ala369Val)
c.1337C>T (p.Ala446Val)
c.-212+2072G>A (n.-212+2072G>A)
 gnomAD v4
12g.52306140C>ACA6577080KRT81,KRT86c.1107C>A (p.Ala369=)
c.1338C>A (p.Ala446=)
c.-212+2071G>T (n.-212+2071G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306140C=CA2036432466KRT81,KRT86c.1107C= (p.Ala369=)
c.1338C= (p.Ala446=)
c.-212+2071G= (n.-212+2071G=)
12g.52306140C>GCA237206428KRT81,KRT86c.1107C>G (p.Ala369=)
c.1338C>G (p.Ala446=)
c.-212+2071G>C (n.-212+2071G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306140C>TCA6577079KRT81,KRT86c.1107C>T (p.Ala369=)
c.1338C>T (p.Ala446=)
c.-212+2071G>A (n.-212+2071G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306141G>ACA6577081KRT81,KRT86c.1108G>A (p.Glu370Lys)
c.1339G>A (p.Glu447Lys)
c.-212+2070C>T (n.-212+2070C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306141G>CCA384919009KRT81,KRT86c.1108G>C (p.Glu370Gln)
c.1339G>C (p.Glu447Gln)
c.-212+2070C>G (n.-212+2070C>G)
12g.52306141G=CA2036432467KRT81,KRT86c.1108G= (p.Glu370=)
c.1339G= (p.Glu447=)
c.-212+2070C= (n.-212+2070C=)
12g.52306141G>TCA6577082KRT81,KRT86c.1108G>T (p.Glu370Ter)
c.1339G>T (p.Glu447Ter)
c.-212+2070C>A (n.-212+2070C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306142A>CCA384919010KRT81,KRT86c.1109A>C (p.Glu370Ala)
c.1340A>C (p.Glu447Ala)
c.-212+2069T>G (n.-212+2069T>G)
12g.52306142A>GCA384919012KRT81,KRT86c.1109A>G (p.Glu370Gly)
c.1340A>G (p.Glu447Gly)
c.-212+2069T>C (n.-212+2069T>C)
12g.52306142A>TCA384919011KRT81,KRT86c.1109A>T (p.Glu370Val)
c.1340A>T (p.Glu447Val)
c.-212+2069T>A (n.-212+2069T>A)
12g.52306143G>ACA480065494KRT81,KRT86c.1110G>A (p.Glu370=)
c.1341G>A (p.Glu447=)
c.-212+2068C>T (n.-212+2068C>T)
12g.52306143G>CCA384919013KRT81,KRT86c.1110G>C (p.Glu370Asp)
c.1341G>C (p.Glu447Asp)
c.-212+2068C>G (n.-212+2068C>G)
12g.52306143G>TCA384919014KRT81,KRT86c.1110G>T (p.Glu370Asp)
c.1341G>T (p.Glu447Asp)
c.-212+2068C>A (n.-212+2068C>A)
12g.52306144C>ACA384919015KRT81,KRT86c.1111C>A (p.Leu371Met)
c.1342C>A (p.Leu448Met)
c.-212+2067G>T (n.-212+2067G>T)
12g.52306144C=CA2036432468KRT81,KRT86c.1111C= (p.Leu371=)
c.1342C= (p.Leu448=)
c.-212+2067G= (n.-212+2067G=)
12g.52306144C>GCA384919016KRT81,KRT86c.1111C>G (p.Leu371Val)
c.1342C>G (p.Leu448Val)
c.-212+2067G>C (n.-212+2067G>C)
 gnomAD v4
12g.52306144C>TCA6577083KRT81,KRT86c.1111C>T (p.Leu371=)
c.1342C>T (p.Leu448=)
c.-212+2067G>A (n.-212+2067G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306145T>ACA384919017KRT81,KRT86c.1112T>A (p.Leu371Gln)
c.1343T>A (p.Leu448Gln)
c.-212+2066A>T (n.-212+2066A>T)
12g.52306145T>CCA384919018KRT81,KRT86c.1112T>C (p.Leu371Pro)
c.1343T>C (p.Leu448Pro)
c.-212+2066A>G (n.-212+2066A>G)
12g.52306145T>GCA384919019KRT81,KRT86c.1112T>G (p.Leu371Arg)
c.1343T>G (p.Leu448Arg)
c.-212+2066A>C (n.-212+2066A>C)
12g.52306146G>ACA480065497KRT81,KRT86c.1113G>A (p.Leu371=)
c.1344G>A (p.Leu448=)
c.-212+2065C>T (n.-212+2065C>T)
12g.52306146G>CCA480065498KRT81,KRT86c.1113G>C (p.Leu371=)
c.1344G>C (p.Leu448=)
c.-212+2065C>G (n.-212+2065C>G)
12g.52306146G=CA2036432469KRT81,KRT86c.1113G= (p.Leu371=)
c.1344G= (p.Leu448=)
c.-212+2065C= (n.-212+2065C=)
12g.52306146G>TCA480065499KRT81,KRT86c.1113G>T (p.Leu371=)
c.1344G>T (p.Leu448=)
c.-212+2065C>A (n.-212+2065C>A)
 dbSNP
12g.52306147G>ACA384919020KRT81,KRT86c.1114G>A (p.Glu372Lys)
c.1345G>A (p.Glu449Lys)
c.-212+2064C>T (n.-212+2064C>T)
 dbSNP gnomAD v4
12g.52306147G>CCA384919021KRT81,KRT86c.1114G>C (p.Glu372Gln)
c.1345G>C (p.Glu449Gln)
c.-212+2064C>G (n.-212+2064C>G)
12g.52306147G=CA2036432470KRT81,KRT86c.1114G= (p.Glu372=)
c.1345G= (p.Glu449=)
c.-212+2064C= (n.-212+2064C=)
12g.52306147G>TCA384919022KRT81,KRT86c.1114G>T (p.Glu372Ter)
c.1345G>T (p.Glu449Ter)
c.-212+2064C>A (n.-212+2064C>A)
12g.52306148A>CCA384919023KRT81,KRT86c.1115A>C (p.Glu372Ala)
c.1346A>C (p.Glu449Ala)
c.-212+2063T>G (n.-212+2063T>G)
12g.52306148A>GCA384919025KRT81,KRT86c.1115A>G (p.Glu372Gly)
c.1346A>G (p.Glu449Gly)
c.-212+2063T>C (n.-212+2063T>C)
 gnomAD v4
12g.52306148A>TCA384919024KRT81,KRT86c.1115A>T (p.Glu372Val)
c.1346A>T (p.Glu449Val)
c.-212+2063T>A (n.-212+2063T>A)
12g.52306149G>ACA480065500KRT81,KRT86c.1116G>A (p.Glu372=)
c.1347G>A (p.Glu449=)
c.-212+2062C>T (n.-212+2062C>T)
12g.52306149G>CCA384919026KRT81,KRT86c.1116G>C (p.Glu372Asp)
c.1347G>C (p.Glu449Asp)
c.-212+2062C>G (n.-212+2062C>G)
12g.52306149G>TCA384919027KRT81,KRT86c.1116G>T (p.Glu372Asp)
c.1347G>T (p.Glu449Asp)
c.-212+2062C>A (n.-212+2062C>A)
12g.52306150G>ACA384919028KRT81,KRT86c.1117G>A (p.Gly373Ser)
c.1348G>A (p.Gly450Ser)
c.-212+2061C>T (n.-212+2061C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306150G>CCA384919029KRT81,KRT86c.1117G>C (p.Gly373Arg)
c.1348G>C (p.Gly450Arg)
c.-212+2061C>G (n.-212+2061C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.52306150G=CA2036432471KRT81,KRT86c.1117G= (p.Gly373=)
c.1348G= (p.Gly450=)
c.-212+2061C= (n.-212+2061C=)
12g.52306150G>TCA384919030KRT81,KRT86c.1117G>T (p.Gly373Cys)
c.1348G>T (p.Gly450Cys)
c.-212+2061C>A (n.-212+2061C>A)
 dbSNP gnomAD v4
12g.52306151G>ACA384919031KRT81,KRT86c.1118G>A (p.Gly373Asp)
c.1349G>A (p.Gly450Asp)
c.-212+2060C>T (n.-212+2060C>T)
12g.52306151G>CCA384919032KRT81,KRT86c.1118G>C (p.Gly373Ala)
c.1349G>C (p.Gly450Ala)
c.-212+2060C>G (n.-212+2060C>G)
12g.52306151G=CA2036432472KRT81,KRT86c.1118G= (p.Gly373=)
c.1349G= (p.Gly450=)
c.-212+2060C= (n.-212+2060C=)
12g.52306151G>TCA6577084KRT81,KRT86c.1118G>T (p.Gly373Val)
c.1349G>T (p.Gly450Val)
c.-212+2060C>A (n.-212+2060C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306152T>ACA480065501KRT81,KRT86c.1119T>A (p.Gly373=)
c.1350T>A (p.Gly450=)
c.-212+2059A>T (n.-212+2059A>T)
 dbSNP
12g.52306152T>CCA6577085KRT81,KRT86c.1119T>C (p.Gly373=)
c.1350T>C (p.Gly450=)
c.-212+2059A>G (n.-212+2059A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306152T>GCA480065502KRT81,KRT86c.1119T>G (p.Gly373=)
c.1350T>G (p.Gly450=)
c.-212+2059A>C (n.-212+2059A>C)
 dbSNP
12g.52306152T=CA2036432473KRT81,KRT86c.1119T= (p.Gly373=)
c.1350T= (p.Gly450=)
c.-212+2059A= (n.-212+2059A=)
12g.52306153G>ACA384919034KRT81,KRT86c.1120G>A (p.Ala374Thr)
c.1351G>A (p.Ala451Thr)
c.-212+2058C>T (n.-212+2058C>T)
12g.52306153G>CCA384919035KRT81,KRT86c.1120G>C (p.Ala374Pro)
c.1351G>C (p.Ala451Pro)
c.-212+2058C>G (n.-212+2058C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306153G=CA2036432474KRT81,KRT86c.1120G= (p.Ala374=)
c.1351G= (p.Ala451=)
c.-212+2058C= (n.-212+2058C=)
12g.52306153G>TCA384919033KRT81,KRT86c.1120G>T (p.Ala374Ser)
c.1351G>T (p.Ala451Ser)
c.-212+2058C>A (n.-212+2058C>A)
12g.52306154C>ACA384919036KRT81,KRT86c.1121C>A (p.Ala374Asp)
c.1352C>A (p.Ala451Asp)
c.-212+2057G>T (n.-212+2057G>T)
12g.52306154C=CA2036432475KRT81,KRT86c.1121C= (p.Ala374=)
c.1352C= (p.Ala451=)
c.-212+2057G= (n.-212+2057G=)
12g.52306154C>GCA384919037KRT81,KRT86c.1121C>G (p.Ala374Gly)
c.1352C>G (p.Ala451Gly)
c.-212+2057G>C (n.-212+2057G>C)
12g.52306154C>TCA384919038KRT81,KRT86c.1121C>T (p.Ala374Val)
c.1352C>T (p.Ala451Val)
c.-212+2057G>A (n.-212+2057G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306155C>ACA480065507KRT81,KRT86c.1122C>A (p.Ala374=)
c.1353C>A (p.Ala451=)
c.-212+2056G>T (n.-212+2056G>T)
12g.52306155C>GCA480065506KRT81,KRT86c.1122C>G (p.Ala374=)
c.1353C>G (p.Ala451=)
c.-212+2056G>C (n.-212+2056G>C)
12g.52306155C>TCA480065505KRT81,KRT86c.1122C>T (p.Ala374=)
c.1353C>T (p.Ala451=)
c.-212+2056G>A (n.-212+2056G>A)
12g.52306156C>ACA384919039KRT81,KRT86c.1123C>A (p.Leu375Met)
c.1354C>A (p.Leu452Met)
c.-212+2055G>T (n.-212+2055G>T)
 gnomAD v4
12g.52306156C>GCA384919040KRT81,KRT86c.1123C>G (p.Leu375Val)
c.1354C>G (p.Leu452Val)
c.-212+2055G>C (n.-212+2055G>C)
12g.52306156C>TCA480065508KRT81,KRT86c.1123C>T (p.Leu375=)
c.1354C>T (p.Leu452=)
c.-212+2055G>A (n.-212+2055G>A)
12g.52306157T>ACA384919041KRT81,KRT86c.1124T>A (p.Leu375Gln)
c.1355T>A (p.Leu452Gln)
c.-212+2054A>T (n.-212+2054A>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.52306157T>CCA6577086KRT81,KRT86c.1124T>C (p.Leu375Pro)
c.1355T>C (p.Leu452Pro)
c.-212+2054A>G (n.-212+2054A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306157T>GCA384919042KRT81,KRT86c.1124T>G (p.Leu375Arg)
c.1355T>G (p.Leu452Arg)
c.-212+2054A>C (n.-212+2054A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.52306157T=CA2036432476KRT81,KRT86c.1124T= (p.Leu375=)
c.1355T= (p.Leu452=)
c.-212+2054A= (n.-212+2054A=)
12g.52306158G>ACA480065509KRT81,KRT86c.1125G>A (p.Leu375=)
c.1356G>A (p.Leu452=)
c.-212+2053C>T (n.-212+2053C>T)
12g.52306158G>CCA480065510KRT81,KRT86c.1125G>C (p.Leu375=)
c.1356G>C (p.Leu452=)
c.-212+2053C>G (n.-212+2053C>G)
12g.52306158G>TCA480065511KRT81,KRT86c.1125G>T (p.Leu375=)
c.1356G>T (p.Leu452=)
c.-212+2053C>A (n.-212+2053C>A)
12g.52306159C>ACA384919043KRT81,KRT86c.1126C>A (p.Gln376Lys)
c.1357C>A (p.Gln453Lys)
c.-212+2052G>T (n.-212+2052G>T)
 gnomAD v4
12g.52306159C>GCA384919044KRT81,KRT86c.1126C>G (p.Gln376Glu)
c.1357C>G (p.Gln453Glu)
c.-212+2052G>C (n.-212+2052G>C)
12g.52306159C>TCA384919045KRT81,KRT86c.1126C>T (p.Gln376Ter)
c.1357C>T (p.Gln453Ter)
c.-212+2052G>A (n.-212+2052G>A)
12g.52306160A>CCA384919048KRT81,KRT86c.1127A>C (p.Gln376Pro)
c.1358A>C (p.Gln453Pro)
c.-212+2051T>G (n.-212+2051T>G)
 gnomAD v4
12g.52306160A>GCA384919047KRT81,KRT86c.1127A>G (p.Gln376Arg)
c.1358A>G (p.Gln453Arg)
c.-212+2051T>C (n.-212+2051T>C)
 gnomAD v4
12g.52306160A>TCA384919046KRT81,KRT86c.1127A>T (p.Gln376Leu)
c.1358A>T (p.Gln453Leu)
c.-212+2051T>A (n.-212+2051T>A)
12g.52306161G>ACA479841259KRT81,KRT86c.1128G>A (p.Gln376=)
c.1359G>A (p.Gln453=)
c.-212+2050C>T (n.-212+2050C>T)
12g.52306161G>CCA384919049KRT81,KRT86c.1128G>C (p.Gln376His)
c.1359G>C (p.Gln453His)
c.-212+2050C>G (n.-212+2050C>G)
12g.52306161G>TCA384919050KRT81,KRT86c.1128G>T (p.Gln376His)
c.1359G>T (p.Gln453His)
c.-212+2050C>A (n.-212+2050C>A)
12g.52306162A>CCA384919051KRT81,KRT86c.1129A>C (p.Lys377Gln)
c.1360A>C (p.Lys454Gln)
c.-212+2049T>G (n.-212+2049T>G)
12g.52306162A>GCA384919052KRT81,KRT86c.1129A>G (p.Lys377Glu)
c.1360A>G (p.Lys454Glu)
c.-212+2049T>C (n.-212+2049T>C)
12g.52306162A>TCA384919053KRT81,KRT86c.1129A>T (p.Lys377Ter)
c.1360A>T (p.Lys454Ter)
c.-212+2049T>A (n.-212+2049T>A)
12g.52306163A=CA2036432477KRT81,KRT86c.1130A= (p.Lys377=)
c.1361A= (p.Lys454=)
c.-212+2048T= (n.-212+2048T=)
12g.52306163A>CCA384919054KRT81,KRT86c.1130A>C (p.Lys377Thr)
c.1361A>C (p.Lys454Thr)
c.-212+2048T>G (n.-212+2048T>G)
12g.52306163A>GCA384919055KRT81,KRT86c.1130A>G (p.Lys377Arg)
c.1361A>G (p.Lys454Arg)
c.-212+2048T>C (n.-212+2048T>C)
12g.52306163A>TCA6577087KRT81,KRT86c.1130A>T (p.Lys377Met)
c.1361A>T (p.Lys454Met)
c.-212+2048T>A (n.-212+2048T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306164G>ACA479841270KRT81,KRT86c.1131G>A (p.Lys377=)
c.1362G>A (p.Lys454=)
c.-212+2047C>T (n.-212+2047C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306164G>CCA384919056KRT81,KRT86c.1131G>C (p.Lys377Asn)
c.1362G>C (p.Lys454Asn)
c.-212+2047C>G (n.-212+2047C>G)
12g.52306164G=CA2036432478KRT81,KRT86c.1131G= (p.Lys377=)
c.1362G= (p.Lys454=)
c.-212+2047C= (n.-212+2047C=)
12g.52306164G>TCA6577088KRT81,KRT86c.1131G>T (p.Lys377Asn)
c.1362G>T (p.Lys454Asn)
c.-212+2047C>A (n.-212+2047C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306165G>ACA384919057KRT81,KRT86c.1132G>A (p.Ala378Thr)
c.1363G>A (p.Ala455Thr)
c.-212+2046C>T (n.-212+2046C>T)
12g.52306165G>CCA384919058KRT81,KRT86c.1132G>C (p.Ala378Pro)
c.1363G>C (p.Ala455Pro)
c.-212+2046C>G (n.-212+2046C>G)
12g.52306165G>TCA384919059KRT81,KRT86c.1132G>T (p.Ala378Ser)
c.1363G>T (p.Ala455Ser)
c.-212+2046C>A (n.-212+2046C>A)
12g.52306166C>ACA384919061KRT81,KRT86c.1133C>A (p.Ala378Asp)
c.1364C>A (p.Ala455Asp)
c.-212+2045G>T (n.-212+2045G>T)
 dbSNP
12g.52306166C=CA2036432479KRT81,KRT86c.1133C= (p.Ala378=)
c.1364C= (p.Ala455=)
c.-212+2045G= (n.-212+2045G=)
12g.52306166C>GCA384919062KRT81,KRT86c.1133C>G (p.Ala378Gly)
c.1364C>G (p.Ala455Gly)
c.-212+2045G>C (n.-212+2045G>C)
12g.52306166C>TCA384919060KRT81,KRT86c.1133C>T (p.Ala378Val)
c.1364C>T (p.Ala455Val)
c.-212+2045G>A (n.-212+2045G>A)
12g.52306167C>ACA479841285KRT81,KRT86c.1134C>A (p.Ala378=)
c.1365C>A (p.Ala455=)
c.-212+2044G>T (n.-212+2044G>T)
 COSMIC
12g.52306167C>GCA479841287KRT81,KRT86c.1134C>G (p.Ala378=)
c.1365C>G (p.Ala455=)
c.-212+2044G>C (n.-212+2044G>C)
12g.52306167C>TCA479841289KRT81,KRT86c.1134C>T (p.Ala378=)
c.1365C>T (p.Ala455=)
c.-212+2044G>A (n.-212+2044G>A)
 gnomAD v4 COSMIC
12g.52306168A=CA2036432480KRT81,KRT86c.1135A= (p.Lys379=)
c.1366A= (p.Lys456=)
c.-212+2043T= (n.-212+2043T=)
12g.52306168A>CCA384919063KRT81,KRT86c.1135A>C (p.Lys379Gln)
c.1366A>C (p.Lys456Gln)
c.-212+2043T>G (n.-212+2043T>G)
12g.52306168A>GCA237206448KRT81,KRT86c.1135A>G (p.Lys379Glu)
c.1366A>G (p.Lys456Glu)
c.-212+2043T>C (n.-212+2043T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.52306168A>TCA384919064KRT81,KRT86c.1135A>T (p.Lys379Ter)
c.1366A>T (p.Lys456Ter)
c.-212+2043T>A (n.-212+2043T>A)
12g.52306169A>CCA384919065KRT81,KRT86c.1136A>C (p.Lys379Thr)
c.1367A>C (p.Lys456Thr)
c.-212+2042T>G (n.-212+2042T>G)
12g.52306169A>GCA384919066KRT81,KRT86c.1136A>G (p.Lys379Arg)
c.1367A>G (p.Lys456Arg)
c.-212+2042T>C (n.-212+2042T>C)
12g.52306169A>TCA384919067KRT81,KRT86c.1136A>T (p.Lys379Met)
c.1367A>T (p.Lys456Met)
c.-212+2042T>A (n.-212+2042T>A)
12g.52306170G>ACA479841298KRT81,KRT86c.1137G>A (p.Lys379=)
c.1368G>A (p.Lys456=)
c.-212+2041C>T (n.-212+2041C>T)
12g.52306170G>CCA384919068KRT81,KRT86c.1137G>C (p.Lys379Asn)
c.1368G>C (p.Lys456Asn)
c.-212+2041C>G (n.-212+2041C>G)
12g.52306170G>TCA384919069KRT81,KRT86c.1137G>T (p.Lys379Asn)
c.1368G>T (p.Lys456Asn)
c.-212+2041C>A (n.-212+2041C>A)
12g.52306171C>ACA384919070KRT81,KRT86c.1138C>A (p.Gln380Lys)
c.1369C>A (p.Gln457Lys)
c.-212+2040G>T (n.-212+2040G>T)
12g.52306171C>GCA384919071KRT81,KRT86c.1138C>G (p.Gln380Glu)
c.1369C>G (p.Gln457Glu)
c.-212+2040G>C (n.-212+2040G>C)
 gnomAD v4
12g.52306171C>TCA384919072KRT81,KRT86c.1138C>T (p.Gln380Ter)
c.1369C>T (p.Gln457Ter)
c.-212+2040G>A (n.-212+2040G>A)
12g.52306172A>CCA384919073KRT81,KRT86c.1139A>C (p.Gln380Pro)
c.1370A>C (p.Gln457Pro)
c.-212+2039T>G (n.-212+2039T>G)
12g.52306172A>GCA384919074KRT81,KRT86c.1139A>G (p.Gln380Arg)
c.1370A>G (p.Gln457Arg)
c.-212+2039T>C (n.-212+2039T>C)
12g.52306172A>TCA384919075KRT81,KRT86c.1139A>T (p.Gln380Leu)
c.1370A>T (p.Gln457Leu)
c.-212+2039T>A (n.-212+2039T>A)
12g.52306173G>ACA479841311KRT81,KRT86c.1140G>A (p.Gln380=)
c.1371G>A (p.Gln457=)
c.-212+2038C>T (n.-212+2038C>T)
12g.52306173G>CCA384919077KRT81,KRT86c.1140G>C (p.Gln380His)
c.1371G>C (p.Gln457His)
c.-212+2038C>G (n.-212+2038C>G)
12g.52306173G>TCA384919076KRT81,KRT86c.1140G>T (p.Gln380His)
c.1371G>T (p.Gln457His)
c.-212+2038C>A (n.-212+2038C>A)
12g.52306174delCA2575163453KRT81,KRT86c.1141del (p.Asp381ThrfsTer5)
c.1372del (p.Asp458ThrfsTer5)
c.-212+2038del (n.-212+2038del)
 gnomAD v4
12g.52306174G>ACA384919078KRT81,KRT86c.1141G>A (p.Asp381Asn)
c.1372G>A (p.Asp458Asn)
c.-212+2037C>T (n.-212+2037C>T)
 gnomAD v4
12g.52306174G>CCA384919079KRT81,KRT86c.1141G>C (p.Asp381His)
c.1372G>C (p.Asp458His)
c.-212+2037C>G (n.-212+2037C>G)
12g.52306174G=CA2036432481KRT81,KRT86c.1141G= (p.Asp381=)
c.1372G= (p.Asp458=)
c.-212+2037C= (n.-212+2037C=)
12g.52306174G>TCA384919080KRT81,KRT86c.1141G>T (p.Asp381Tyr)
c.1372G>T (p.Asp458Tyr)
c.-212+2037C>A (n.-212+2037C>A)
 dbSNP gnomAD v3 gnomAD v4
12g.52306175A=CA2036432482KRT81,KRT86c.1142A= (p.Asp381=)
c.1373A= (p.Asp458=)
c.-212+2036T= (n.-212+2036T=)
12g.52306175A>CCA384919081KRT81,KRT86c.1142A>C (p.Asp381Ala)
c.1373A>C (p.Asp458Ala)
c.-212+2036T>G (n.-212+2036T>G)
12g.52306175A>GCA384919082KRT81,KRT86c.1142A>G (p.Asp381Gly)
c.1373A>G (p.Asp458Gly)
c.-212+2036T>C (n.-212+2036T>C)
12g.52306175A>TCA384919083KRT81,KRT86c.1142A>T (p.Asp381Val)
c.1373A>T (p.Asp458Val)
c.-212+2036T>A (n.-212+2036T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306176C>ACA384919085KRT81,KRT86c.1143C>A (p.Asp381Glu)
c.1374C>A (p.Asp458Glu)
c.-212+2035G>T (n.-212+2035G>T)
12g.52306176C>GCA384919084KRT81,KRT86c.1143C>G (p.Asp381Glu)
c.1374C>G (p.Asp458Glu)
c.-212+2035G>C (n.-212+2035G>C)
12g.52306176C>TCA479841326KRT81,KRT86c.1143C>T (p.Asp381=)
c.1374C>T (p.Asp458=)
c.-212+2035G>A (n.-212+2035G>A)
12g.52306177A=CA2036432483KRT81,KRT86c.1144A= (p.Met382=)
c.1375A= (p.Met459=)
c.-212+2034T= (n.-212+2034T=)
12g.52306177A>CCA384919086KRT81,KRT86c.1144A>C (p.Met382Leu)
c.1375A>C (p.Met459Leu)
c.-212+2034T>G (n.-212+2034T>G)
12g.52306177A>GCA384919087KRT81,KRT86c.1144A>G (p.Met382Val)
c.1375A>G (p.Met459Val)
c.-212+2034T>C (n.-212+2034T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.52306177A>TCA384919088KRT81,KRT86c.1144A>T (p.Met382Leu)
c.1375A>T (p.Met459Leu)
c.-212+2034T>A (n.-212+2034T>A)
 gnomAD v4
12g.52306178T>ACA384919089KRT81,KRT86c.1145T>A (p.Met382Lys)
c.1376T>A (p.Met459Lys)
c.-212+2033A>T (n.-212+2033A>T)
12g.52306178T>CCA384919090KRT81,KRT86c.1145T>C (p.Met382Thr)
c.1376T>C (p.Met459Thr)
c.-212+2033A>G (n.-212+2033A>G)
 gnomAD v4
12g.52306178T>GCA6577089KRT81,KRT86c.1145T>G (p.Met382Arg)
c.1376T>G (p.Met459Arg)
c.-212+2033A>C (n.-212+2033A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306178T=CA2036432484KRT81,KRT86c.1145T= (p.Met382=)
c.1376T= (p.Met459=)
c.-212+2033A= (n.-212+2033A=)
12g.52306179G>ACA384919091KRT81,KRT86c.1146G>A (p.Met382Ile)
c.1377G>A (p.Met459Ile)
c.-212+2032C>T (n.-212+2032C>T)
 gnomAD v4
12g.52306179G>CCA384919093KRT81,KRT86c.1146G>C (p.Met382Ile)
c.1377G>C (p.Met459Ile)
c.-212+2032C>G (n.-212+2032C>G)
12g.52306179G>TCA384919092KRT81,KRT86c.1146G>T (p.Met382Ile)
c.1377G>T (p.Met459Ile)
c.-212+2032C>A (n.-212+2032C>A)
12g.52306180G>ACA384919094KRT81,KRT86c.1147G>A (p.Ala383Thr)
c.1378G>A (p.Ala460Thr)
c.-212+2031C>T (n.-212+2031C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.52306180G>CCA384919095KRT81,KRT86c.1147G>C (p.Ala383Pro)
c.1378G>C (p.Ala460Pro)
c.-212+2031C>G (n.-212+2031C>G)
12g.52306180G=CA2036432485KRT81,KRT86c.1147G= (p.Ala383=)
c.1378G= (p.Ala460=)
c.-212+2031C= (n.-212+2031C=)
12g.52306180G>TCA384919096KRT81,KRT86c.1147G>T (p.Ala383Ser)
c.1378G>T (p.Ala460Ser)
c.-212+2031C>A (n.-212+2031C>A)
12g.52306181C>ACA384919097KRT81,KRT86c.1148C>A (p.Ala383Asp)
c.1379C>A (p.Ala460Asp)
c.-212+2030G>T (n.-212+2030G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.52306181C=CA2036432486KRT81,KRT86c.1148C= (p.Ala383=)
c.1379C= (p.Ala460=)
c.-212+2030G= (n.-212+2030G=)
12g.52306181C>GCA384919098KRT81,KRT86c.1148C>G (p.Ala383Gly)
c.1379C>G (p.Ala460Gly)
c.-212+2030G>C (n.-212+2030G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.52306181C>TCA384919099KRT81,KRT86c.1148C>T (p.Ala383Val)
c.1379C>T (p.Ala460Val)
c.-212+2030G>A (n.-212+2030G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306182C>ACA479841353KRT81,KRT86c.1149C>A (p.Ala383=)
c.1380C>A (p.Ala460=)
c.-212+2029G>T (n.-212+2029G>T)
12g.52306182C>GCA479841355KRT81,KRT86c.1149C>G (p.Ala383=)
c.1380C>G (p.Ala460=)
c.-212+2029G>C (n.-212+2029G>C)
12g.52306182C>TCA479841351KRT81,KRT86c.1149C>T (p.Ala383=)
c.1380C>T (p.Ala460=)
c.-212+2029G>A (n.-212+2029G>A)
12g.52306183_52306185dupCA605239794KRT81,KRT86c.1150_1152dup (p.Cys384_Leu385insCys)
c.1381_1383dup (p.Cys461_Leu462insCys)
c.-212+2027_-212+2029dup (n.-212+2027_-212+2029dup)
 dbSNP gnomAD v2 gnomAD v4
12g.52306183T>ACA384919100KRT81,KRT86c.1150T>A (p.Cys384Ser)
c.1381T>A (p.Cys461Ser)
c.-212+2028A>T (n.-212+2028A>T)
12g.52306183T>CCA384919101KRT81,KRT86c.1150T>C (p.Cys384Arg)
c.1381T>C (p.Cys461Arg)
c.-212+2028A>G (n.-212+2028A>G)
12g.52306183T>GCA384919102KRT81,KRT86c.1150T>G (p.Cys384Gly)
c.1381T>G (p.Cys461Gly)
c.-212+2028A>C (n.-212+2028A>C)
12g.52306184G>ACA384919103KRT81,KRT86c.1151G>A (p.Cys384Tyr)
c.1382G>A (p.Cys461Tyr)
c.-212+2027C>T (n.-212+2027C>T)
 gnomAD v4
12g.52306184G>CCA384919104KRT81,KRT86c.1151G>C (p.Cys384Ser)
c.1382G>C (p.Cys461Ser)
c.-212+2027C>G (n.-212+2027C>G)
12g.52306184G>TCA384919105KRT81,KRT86c.1151G>T (p.Cys384Phe)
c.1382G>T (p.Cys461Phe)
c.-212+2027C>A (n.-212+2027C>A)
12g.52306185C>ACA384919106KRT81,KRT86c.1152C>A (p.Cys384Ter)
c.1383C>A (p.Cys461Ter)
c.-212+2026G>T (n.-212+2026G>T)
 dbSNP
12g.52306185C=CA2036432487KRT81,KRT86c.1152C= (p.Cys384=)
c.1383C= (p.Cys461=)
c.-212+2026G= (n.-212+2026G=)
12g.52306185C>GCA384919107KRT81,KRT86c.1152C>G (p.Cys384Trp)
c.1383C>G (p.Cys461Trp)
c.-212+2026G>C (n.-212+2026G>C)
12g.52306185C>TCA479841366KRT81,KRT86c.1152C>T (p.Cys384=)
c.1383C>T (p.Cys461=)
c.-212+2026G>A (n.-212+2026G>A)
12g.52306186C>ACA384919108KRT81,KRT86c.1153C>A (p.Leu385Met)
c.1384C>A (p.Leu462Met)
c.-212+2025G>T (n.-212+2025G>T)
12g.52306186C>GCA384919109KRT81,KRT86c.1153C>G (p.Leu385Val)
c.1384C>G (p.Leu462Val)
c.-212+2025G>C (n.-212+2025G>C)
12g.52306186C>TCA479841372KRT81,KRT86c.1153C>T (p.Leu385=)
c.1384C>T (p.Leu462=)
c.-212+2025G>A (n.-212+2025G>A)
12g.52306187T>ACA384919110KRT81,KRT86c.1154T>A (p.Leu385Gln)
c.1385T>A (p.Leu462Gln)
c.-212+2024A>T (n.-212+2024A>T)
12g.52306187T>CCA384919111KRT81,KRT86c.1154T>C (p.Leu385Pro)
c.1385T>C (p.Leu462Pro)
c.-212+2024A>G (n.-212+2024A>G)
 gnomAD v4
12g.52306187T>GCA384919112KRT81,KRT86c.1154T>G (p.Leu385Arg)
c.1385T>G (p.Leu462Arg)
c.-212+2024A>C (n.-212+2024A>C)
12g.52306188G>ACA479841380KRT81,KRT86c.1155G>A (p.Leu385=)
c.1386G>A (p.Leu462=)
c.-212+2023C>T (n.-212+2023C>T)
12g.52306188G>CCA479841385KRT81,KRT86c.1155G>C (p.Leu385=)
c.1386G>C (p.Leu462=)
c.-212+2023C>G (n.-212+2023C>G)
12g.52306188G>TCA479841383KRT81,KRT86c.1155G>T (p.Leu385=)
c.1386G>T (p.Leu462=)
c.-212+2023C>A (n.-212+2023C>A)
12g.52306189A=CA2036432488KRT81,KRT86c.1156A= (p.Ile386=)
c.1387A= (p.Ile463=)
c.-212+2022T= (n.-212+2022T=)
12g.52306189A>CCA6577090KRT81,KRT86c.1156A>C (p.Ile386Leu)
c.1387A>C (p.Ile463Leu)
c.-212+2022T>G (n.-212+2022T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306189A>GCA384919113KRT81,KRT86c.1156A>G (p.Ile386Val)
c.1387A>G (p.Ile463Val)
c.-212+2022T>C (n.-212+2022T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.52306189A>TCA384919114KRT81,KRT86c.1156A>T (p.Ile386Phe)
c.1387A>T (p.Ile463Phe)
c.-212+2022T>A (n.-212+2022T>A)
12g.52306190T>ACA384919115KRT81,KRT86c.1157T>A (p.Ile386Asn)
c.1388T>A (p.Ile463Asn)
c.-212+2021A>T (n.-212+2021A>T)
12g.52306190T>CCA384919116KRT81,KRT86c.1157T>C (p.Ile386Thr)
c.1388T>C (p.Ile463Thr)
c.-212+2021A>G (n.-212+2021A>G)
12g.52306190T>GCA384919117KRT81,KRT86c.1157T>G (p.Ile386Ser)
c.1388T>G (p.Ile463Ser)
c.-212+2021A>C (n.-212+2021A>C)
12g.52306191C>ACA479841397KRT81,KRT86c.1158C>A (p.Ile386=)
c.1389C>A (p.Ile463=)
c.-212+2020G>T (n.-212+2020G>T)
12g.52306191C>GCA384919118KRT81,KRT86c.1158C>G (p.Ile386Met)
c.1389C>G (p.Ile463Met)
c.-212+2020G>C (n.-212+2020G>C)
12g.52306191C>TCA479841401KRT81,KRT86c.1158C>T (p.Ile386=)
c.1389C>T (p.Ile463=)
c.-212+2020G>A (n.-212+2020G>A)
 gnomAD v4
12g.52306192A=CA2036432489KRT81,KRT86c.1159A= (p.Arg387=)
c.1390A= (p.Arg464=)
c.-212+2019T= (n.-212+2019T=)
12g.52306192A>CCA479841404KRT81,KRT86c.1159A>C (p.Arg387=)
c.1390A>C (p.Arg464=)
c.-212+2019T>G (n.-212+2019T>G)
12g.52306192A>GCA384919119KRT81,KRT86c.1159A>G (p.Arg387Gly)
c.1390A>G (p.Arg464Gly)
c.-212+2019T>C (n.-212+2019T>C)
12g.52306192A>TCA6577091KRT81,KRT86c.1159A>T (p.Arg387Trp)
c.1390A>T (p.Arg464Trp)
c.-212+2019T>A (n.-212+2019T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306193G>ACA6577092KRT81,KRT86c.1160G>A (p.Arg387Lys)
c.1391G>A (p.Arg464Lys)
c.-212+2018C>T (n.-212+2018C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306193G>CCA384919121KRT81,KRT86c.1160G>C (p.Arg387Thr)
c.1391G>C (p.Arg464Thr)
c.-212+2018C>G (n.-212+2018C>G)
12g.52306193G=CA2036432490KRT81,KRT86c.1160G= (p.Arg387=)
c.1391G= (p.Arg464=)
c.-212+2018C= (n.-212+2018C=)
12g.52306193G>TCA384919120KRT81,KRT86c.1160G>T (p.Arg387Met)
c.1391G>T (p.Arg464Met)
c.-212+2018C>A (n.-212+2018C>A)
12g.52306194G>ACA479841413KRT81,KRT86c.1161G>A (p.Arg387=)
c.1392G>A (p.Arg464=)
c.-212+2017C>T (n.-212+2017C>T)
12g.52306194G>CCA384919123KRT81,KRT86c.1161G>C (p.Arg387Ser)
c.1392G>C (p.Arg464Ser)
c.-212+2017C>G (n.-212+2017C>G)
 dbSNP
12g.52306194G=CA2036432491KRT81,KRT86c.1161G= (p.Arg387=)
c.1392G= (p.Arg464=)
c.-212+2017C= (n.-212+2017C=)
12g.52306194G>TCA384919122KRT81,KRT86c.1161G>T (p.Arg387Ser)
c.1392G>T (p.Arg464Ser)
c.-212+2017C>A (n.-212+2017C>A)
12g.52306195G>ACA384919126KRT81,KRT86c.1162G>A (p.Glu388Lys)
c.1393G>A (p.Glu465Lys)
c.-212+2016C>T (n.-212+2016C>T)
 COSMIC
12g.52306195G>CCA384919124KRT81,KRT86c.1162G>C (p.Glu388Gln)
c.1393G>C (p.Glu465Gln)
c.-212+2016C>G (n.-212+2016C>G)
12g.52306195G>TCA384919125KRT81,KRT86c.1162G>T (p.Glu388Ter)
c.1393G>T (p.Glu465Ter)
c.-212+2016C>A (n.-212+2016C>A)
12g.52306196A>CCA384919127KRT81,KRT86c.1163A>C (p.Glu388Ala)
c.1394A>C (p.Glu465Ala)
c.-212+2015T>G (n.-212+2015T>G)
12g.52306196A>GCA384919128KRT81,KRT86c.1163A>G (p.Glu388Gly)
c.1394A>G (p.Glu465Gly)
c.-212+2015T>C (n.-212+2015T>C)
12g.52306196A>TCA384919129KRT81,KRT86c.1163A>T (p.Glu388Val)
c.1394A>T (p.Glu465Val)
c.-212+2015T>A (n.-212+2015T>A)
12g.52306197G>ACA6577093KRT81,KRT86c.1164G>A (p.Glu388=)
c.1395G>A (p.Glu465=)
c.-212+2014C>T (n.-212+2014C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306197G>CCA6577094KRT81,KRT86c.1164G>C (p.Glu388Asp)
c.1395G>C (p.Glu465Asp)
c.-212+2014C>G (n.-212+2014C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306197G=CA2036432492KRT81,KRT86c.1164G= (p.Glu388=)
c.1395G= (p.Glu465=)
c.-212+2014C= (n.-212+2014C=)
12g.52306197G>TCA384919130KRT81,KRT86c.1164G>T (p.Glu388Asp)
c.1395G>T (p.Glu465Asp)
c.-212+2014C>A (n.-212+2014C>A)
 COSMIC
12g.52306198T>ACA384919131KRT81,KRT86c.1165T>A (p.Tyr389Asn)
c.1396T>A (p.Tyr466Asn)
c.-212+2013A>T (n.-212+2013A>T)
12g.52306198T>CCA384919132KRT81,KRT86c.1165T>C (p.Tyr389His)
c.1396T>C (p.Tyr466His)
c.-212+2013A>G (n.-212+2013A>G)
12g.52306198T>GCA384919133KRT81,KRT86c.1165T>G (p.Tyr389Asp)
c.1396T>G (p.Tyr466Asp)
c.-212+2013A>C (n.-212+2013A>C)
12g.52306199A>CCA384919136KRT81,KRT86c.1166A>C (p.Tyr389Ser)
c.1397A>C (p.Tyr466Ser)
c.-212+2012T>G (n.-212+2012T>G)
12g.52306199A>GCA384919135KRT81,KRT86c.1166A>G (p.Tyr389Cys)
c.1397A>G (p.Tyr466Cys)
c.-212+2012T>C (n.-212+2012T>C)
12g.52306199A>TCA384919134KRT81,KRT86c.1166A>T (p.Tyr389Phe)
c.1397A>T (p.Tyr466Phe)
c.-212+2012T>A (n.-212+2012T>A)
12g.52306200C>ACA384919137KRT81,KRT86c.1167C>A (p.Tyr389Ter)
c.1398C>A (p.Tyr466Ter)
c.-212+2011G>T (n.-212+2011G>T)
12g.52306200C>GCA384919138KRT81,KRT86c.1167C>G (p.Tyr389Ter)
c.1398C>G (p.Tyr466Ter)
c.-212+2011G>C (n.-212+2011G>C)
 gnomAD v4
12g.52306200C>TCA479841442KRT81,KRT86c.1167C>T (p.Tyr389=)
c.1398C>T (p.Tyr466=)
c.-212+2011G>A (n.-212+2011G>A)
 gnomAD v4
12g.52306201C>ACA384919139KRT81,KRT86c.1168C>A (p.Gln390Lys)
c.1399C>A (p.Gln467Lys)
c.-212+2010G>T (n.-212+2010G>T)
12g.52306201C=CA2036432493KRT81,KRT86c.1168C= (p.Gln390=)
c.1399C= (p.Gln467=)
c.-212+2010G= (n.-212+2010G=)
12g.52306201C>GCA384919140KRT81,KRT86c.1168C>G (p.Gln390Glu)
c.1399C>G (p.Gln467Glu)
c.-212+2010G>C (n.-212+2010G>C)
12g.52306201C>TCA384919141KRT81,KRT86c.1168C>T (p.Gln390Ter)
c.1399C>T (p.Gln467Ter)
c.-212+2010G>A (n.-212+2010G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306202A=CA2036432494KRT81,KRT86c.1169A= (p.Gln390=)
c.1400A= (p.Gln467=)
c.-212+2009T= (n.-212+2009T=)
12g.52306202A>CCA384919142KRT81,KRT86c.1169A>C (p.Gln390Pro)
c.1400A>C (p.Gln467Pro)
c.-212+2009T>G (n.-212+2009T>G)
12g.52306202A>GCA6577095KRT81,KRT86c.1169A>G (p.Gln390Arg)
c.1400A>G (p.Gln467Arg)
c.-212+2009T>C (n.-212+2009T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306202A>TCA384919143KRT81,KRT86c.1169A>T (p.Gln390Leu)
c.1400A>T (p.Gln467Leu)
c.-212+2009T>A (n.-212+2009T>A)
12g.52306203G>ACA479841456KRT81,KRT86c.1170G>A (p.Gln390=)
c.1401G>A (p.Gln467=)
c.-212+2008C>T (n.-212+2008C>T)
12g.52306203G>CCA384919144KRT81,KRT86c.1170G>C (p.Gln390His)
c.1401G>C (p.Gln467His)
c.-212+2008C>G (n.-212+2008C>G)
12g.52306203G>TCA384919145KRT81,KRT86c.1170G>T (p.Gln390His)
c.1401G>T (p.Gln467His)
c.-212+2008C>A (n.-212+2008C>A)
12g.52306204G>ACA384919146KRT81,KRT86c.1171G>A (p.Glu391Lys)
c.1402G>A (p.Glu468Lys)
c.-212+2007C>T (n.-212+2007C>T)
12g.52306204G>CCA384919147KRT81,KRT86c.1171G>C (p.Glu391Gln)
c.1402G>C (p.Glu468Gln)
c.-212+2007C>G (n.-212+2007C>G)
12g.52306204G>TCA384919148KRT81,KRT86c.1171G>T (p.Glu391Ter)
c.1402G>T (p.Glu468Ter)
c.-212+2007C>A (n.-212+2007C>A)
12g.52306205A>CCA384919151KRT81,KRT86c.1172A>C (p.Glu391Ala)
c.1403A>C (p.Glu468Ala)
c.-212+2006T>G (n.-212+2006T>G)
12g.52306205A>GCA384919150KRT81,KRT86c.1172A>G (p.Glu391Gly)
c.1403A>G (p.Glu468Gly)
c.-212+2006T>C (n.-212+2006T>C)
12g.52306205A>TCA384919149KRT81,KRT86c.1172A>T (p.Glu391Val)
c.1403A>T (p.Glu468Val)
c.-212+2006T>A (n.-212+2006T>A)
12g.52306206G>ACA479841472KRT81,KRT86c.1173G>A (p.Glu391=)
c.1404G>A (p.Glu468=)
c.-212+2005C>T (n.-212+2005C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.52306206G>CCA384919153KRT81,KRT86c.1173G>C (p.Glu391Asp)
c.1404G>C (p.Glu468Asp)
c.-212+2005C>G (n.-212+2005C>G)
12g.52306206G=CA2036432495KRT81,KRT86c.1173G= (p.Glu391=)
c.1404G= (p.Glu468=)
c.-212+2005C= (n.-212+2005C=)
12g.52306206G>TCA384919152KRT81,KRT86c.1173G>T (p.Glu391Asp)
c.1404G>T (p.Glu468Asp)
c.-212+2005C>A (n.-212+2005C>A)
12g.52306207G>ACA384919154KRT81,KRT86c.1174G>A (p.Val392Met)
c.1405G>A (p.Val469Met)
c.-212+2004C>T (n.-212+2004C>T)
12g.52306207G>CCA384919155KRT81,KRT86c.1174G>C (p.Val392Leu)
c.1405G>C (p.Val469Leu)
c.-212+2004C>G (n.-212+2004C>G)
12g.52306207G>TCA384919156KRT81,KRT86c.1174G>T (p.Val392Leu)
c.1405G>T (p.Val469Leu)
c.-212+2004C>A (n.-212+2004C>A)
 gnomAD v4 COSMIC
12g.52306208T>ACA384919157KRT81,KRT86c.1175T>A (p.Val392Glu)
c.1406T>A (p.Val469Glu)
c.-212+2003A>T (n.-212+2003A>T)
12g.52306208T>CCA384919158KRT81,KRT86c.1175T>C (p.Val392Ala)
c.1406T>C (p.Val469Ala)
c.-212+2003A>G (n.-212+2003A>G)
12g.52306208T>GCA384919159KRT81,KRT86c.1175T>G (p.Val392Gly)
c.1406T>G (p.Val469Gly)
c.-212+2003A>C (n.-212+2003A>C)
 dbSNP
12g.52306208T=CA2036432496KRT81,KRT86c.1175T= (p.Val392=)
c.1406T= (p.Val469=)
c.-212+2003A= (n.-212+2003A=)
12g.52306209G>ACA479841484KRT81,KRT86c.1176G>A (p.Val392=)
c.1407G>A (p.Val469=)
c.-212+2002C>T (n.-212+2002C>T)
12g.52306209G>CCA479841485KRT81,KRT86c.1176G>C (p.Val392=)
c.1407G>C (p.Val469=)
c.-212+2002C>G (n.-212+2002C>G)
12g.52306209G>TCA479841488KRT81,KRT86c.1176G>T (p.Val392=)
c.1407G>T (p.Val469=)
c.-212+2002C>A (n.-212+2002C>A)
12g.52306210A>CCA384919160KRT81,KRT86c.1177A>C (p.Met393Leu)
c.1408A>C (p.Met470Leu)
c.-212+2001T>G (n.-212+2001T>G)
12g.52306210A>GCA384919161KRT81,KRT86c.1177A>G (p.Met393Val)
c.1408A>G (p.Met470Val)
c.-212+2001T>C (n.-212+2001T>C)
12g.52306210A>TCA384919162KRT81,KRT86c.1177A>T (p.Met393Leu)
c.1408A>T (p.Met470Leu)
c.-212+2001T>A (n.-212+2001T>A)
12g.52306210_52306211delinsATCA2036432497KRT81,KRT86c.1177_1178delinsAT (p.Met393=)
c.1408_1409delinsAT (p.Met470=)
c.-212+2000_-212+2001delinsAT (n.-212+2000_-212+2001delinsAT)
12g.52306211delCA947686104KRT81,KRT86c.1178del (p.Met393ArgfsTer?)
c.1409del (p.Met470ArgfsTer?)
c.-212+2000del (n.-212+2000del)
 dbSNP gnomAD v3 gnomAD v4
12g.52306211T>ACA6577096KRT81,KRT86c.1178T>A (p.Met393Lys)
c.1409T>A (p.Met470Lys)
c.-212+2000A>T (n.-212+2000A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306211T>CCA6577097KRT81,KRT86c.1178T>C (p.Met393Thr)
c.1409T>C (p.Met470Thr)
c.-212+2000A>G (n.-212+2000A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306211T>GCA384919163KRT81,KRT86c.1178T>G (p.Met393Arg)
c.1409T>G (p.Met470Arg)
c.-212+2000A>C (n.-212+2000A>C)
12g.52306211T=CA2036432498KRT81,KRT86c.1178T= (p.Met393=)
c.1409T= (p.Met470=)
c.-212+2000A= (n.-212+2000A=)
12g.52306212G>ACA384919166KRT81,KRT86c.1179G>A (p.Met393Ile)
c.1410G>A (p.Met470Ile)
c.-212+1999C>T (n.-212+1999C>T)
 COSMIC
12g.52306212G>CCA384919164KRT81,KRT86c.1179G>C (p.Met393Ile)
c.1410G>C (p.Met470Ile)
c.-212+1999C>G (n.-212+1999C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306212G=CA2036432499KRT81,KRT86c.1179G= (p.Met393=)
c.1410G= (p.Met470=)
c.-212+1999C= (n.-212+1999C=)
12g.52306212G>TCA384919165KRT81,KRT86c.1179G>T (p.Met393Ile)
c.1410G>T (p.Met470Ile)
c.-212+1999C>A (n.-212+1999C>A)
12g.52306213A>CCA384919167KRT81,KRT86c.1180A>C (p.Asn394His)
c.1411A>C (p.Asn471His)
c.-212+1998T>G (n.-212+1998T>G)
12g.52306213A>GCA384919168KRT81,KRT86c.1180A>G (p.Asn394Asp)
c.1411A>G (p.Asn471Asp)
c.-212+1998T>C (n.-212+1998T>C)
12g.52306213A>TCA384919169KRT81,KRT86c.1180A>T (p.Asn394Tyr)
c.1411A>T (p.Asn471Tyr)
c.-212+1998T>A (n.-212+1998T>A)
12g.52306214A>CCA384919170KRT81,KRT86c.1181A>C (p.Asn394Thr)
c.1412A>C (p.Asn471Thr)
c.-212+1997T>G (n.-212+1997T>G)
12g.52306214A>GCA384919171KRT81,KRT86c.1181A>G (p.Asn394Ser)
c.1412A>G (p.Asn471Ser)
c.-212+1997T>C (n.-212+1997T>C)
12g.52306214A>TCA384919172KRT81,KRT86c.1181A>T (p.Asn394Ile)
c.1412A>T (p.Asn471Ile)
c.-212+1997T>A (n.-212+1997T>A)
12g.52306215C>ACA384919173KRT81,KRT86c.1182C>A (p.Asn394Lys)
c.1413C>A (p.Asn471Lys)
c.-212+1996G>T (n.-212+1996G>T)
12g.52306215C=CA2036432500KRT81,KRT86c.1182C= (p.Asn394=)
c.1413C= (p.Asn471=)
c.-212+1996G= (n.-212+1996G=)
12g.52306215C>GCA384919174KRT81,KRT86c.1182C>G (p.Asn394Lys)
c.1413C>G (p.Asn471Lys)
c.-212+1996G>C (n.-212+1996G>C)
12g.52306215C>TCA6577098KRT81,KRT86c.1182C>T (p.Asn394=)
c.1413C>T (p.Asn471=)
c.-212+1996G>A (n.-212+1996G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306216T>ACA384919175KRT81,KRT86c.1183T>A (p.Ser395Thr)
c.1414T>A (p.Ser472Thr)
c.-212+1995A>T (n.-212+1995A>T)
12g.52306216T>CCA384919176KRT81,KRT86c.1183T>C (p.Ser395Pro)
c.1414T>C (p.Ser472Pro)
c.-212+1995A>G (n.-212+1995A>G)
 dbSNP gnomAD v4
12g.52306216T>GCA384919177KRT81,KRT86c.1183T>G (p.Ser395Ala)
c.1414T>G (p.Ser472Ala)
c.-212+1995A>C (n.-212+1995A>C)
12g.52306217C>ACA384919179KRT81,KRT86c.1184C>A (p.Ser395Tyr)
c.1415C>A (p.Ser472Tyr)
c.-212+1994G>T (n.-212+1994G>T)
12g.52306217C=CA2036432501KRT81,KRT86c.1184C= (p.Ser395=)
c.1415C= (p.Ser472=)
c.-212+1994G= (n.-212+1994G=)
12g.52306217C>GCA384919180KRT81,KRT86c.1184C>G (p.Ser395Cys)
c.1415C>G (p.Ser472Cys)
c.-212+1994G>C (n.-212+1994G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.52306217C>TCA384919178KRT81,KRT86c.1184C>T (p.Ser395Phe)
c.1415C>T (p.Ser472Phe)
c.-212+1994G>A (n.-212+1994G>A)
12g.52306218C>ACA479841525KRT81,KRT86c.1185C>A (p.Ser395=)
c.1416C>A (p.Ser472=)
c.-212+1993G>T (n.-212+1993G>T)
12g.52306218C=CA2036432502KRT81,KRT86c.1185C= (p.Ser395=)
c.1416C= (p.Ser472=)
c.-212+1993G= (n.-212+1993G=)
12g.52306218C>GCA479841527KRT81,KRT86c.1185C>G (p.Ser395=)
c.1416C>G (p.Ser472=)
c.-212+1993G>C (n.-212+1993G>C)
 COSMIC
12g.52306218C>TCA479841528KRT81,KRT86c.1185C>T (p.Ser395=)
c.1416C>T (p.Ser472=)
c.-212+1993G>A (n.-212+1993G>A)
 dbSNP
12g.52306219A>CCA384919181KRT81,KRT86c.1186A>C (p.Lys396Gln)
c.1417A>C (p.Lys473Gln)
c.-212+1992T>G (n.-212+1992T>G)
12g.52306219A>GCA384919183KRT81,KRT86c.1186A>G (p.Lys396Glu)
c.1417A>G (p.Lys473Glu)
c.-212+1992T>C (n.-212+1992T>C)
 gnomAD v4
12g.52306219A>TCA384919182KRT81,KRT86c.1186A>T (p.Lys396Ter)
c.1417A>T (p.Lys473Ter)
c.-212+1992T>A (n.-212+1992T>A)
12g.52306220A=CA2036432503KRT81,KRT86c.1187A= (p.Lys396=)
c.1418A= (p.Lys473=)
c.-212+1991T= (n.-212+1991T=)
12g.52306220A>CCA384919184KRT81,KRT86c.1187A>C (p.Lys396Thr)
c.1418A>C (p.Lys473Thr)
c.-212+1991T>G (n.-212+1991T>G)
 gnomAD v4
12g.52306220A>GCA6577099KRT81,KRT86c.1187A>G (p.Lys396Arg)
c.1418A>G (p.Lys473Arg)
c.-212+1991T>C (n.-212+1991T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52306220A>TCA384919185KRT81,KRT86c.1187A>T (p.Lys396Met)
c.1418A>T (p.Lys473Met)
c.-212+1991T>A (n.-212+1991T>A)
12g.52306221G>ACA479841541KRT81,KRT86c.1188G>A (p.Lys396=)
c.1419G>A (p.Lys473=)
c.-212+1990C>T (n.-212+1990C>T)
 gnomAD v4
12g.52306221G>CCA384919186KRT81,KRT86c.1188G>C (p.Lys396Asn)
c.1419G>C (p.Lys473Asn)
c.-212+1990C>G (n.-212+1990C>G)
12g.52306221G>TCA384919187KRT81,KRT86c.1188G>T (p.Lys396Asn)
c.1419G>T (p.Lys473Asn)
c.-212+1990C>A (n.-212+1990C>A)
12g.52306222C>ACA384919188KRT81,KRT86c.1189C>A (p.Leu397Met)
c.1420C>A (p.Leu474Met)
c.-212+1989G>T (n.-212+1989G>T)
 dbSNP gnomAD v4
12g.52306222C=CA2036432504KRT81,KRT86c.1189C= (p.Leu397=)
c.1420C= (p.Leu474=)
c.-212+1989G= (n.-212+1989G=)
12g.52306222C>GCA384919189KRT81,KRT86c.1189C>G (p.Leu397Val)
c.1420C>G (p.Leu474Val)
c.-212+1989G>C (n.-212+1989G>C)
12g.52306222C>TCA479841548KRT81,KRT86c.1189C>T (p.Leu397=)
c.1420C>T (p.Leu474=)
c.-212+1989G>A (n.-212+1989G>A)
 gnomAD v4
12g.52306223T>ACA384919190KRT81,KRT86c.1190T>A (p.Leu397Gln)
c.1421T>A (p.Leu474Gln)
c.-212+1988A>T (n.-212+1988A>T)
12g.52306223T>CCA384919191KRT81,KRT86c.1190T>C (p.Leu397Pro)
c.1421T>C (p.Leu474Pro)
c.-212+1988A>G (n.-212+1988A>G)
 gnomAD v4
12g.52306223T>GCA384919192KRT81,KRT86c.1190T>G (p.Leu397Arg)
c.1421T>G (p.Leu474Arg)
c.-212+1988A>C (n.-212+1988A>C)
 gnomAD v4
12g.52306224G>ACA479841557KRT81,KRT86c.1191G>A (p.Leu397=)
c.1422G>A (p.Leu474=)
c.-212+1987C>T (n.-212+1987C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.52306224G>CCA479841560KRT81,KRT86c.1191G>C (p.Leu397=)
c.1422G>C (p.Leu474=)
c.-212+1987C>G (n.-212+1987C>G)
12g.52306224G=CA2036432505KRT81,KRT86c.1191G= (p.Leu397=)
c.1422G= (p.Leu474=)
c.-212+1987C= (n.-212+1987C=)
12g.52306224G>TCA479841554KRT81,KRT86c.1191G>T (p.Leu397=)
c.1422G>T (p.Leu474=)
c.-212+1987C>A (n.-212+1987C>A)
12g.52306226delCA2618906177KRT81,KRT86c.1193del (p.Gly398AlafsTer27)
c.1424del (p.Gly475AlafsTer27)
c.-212+1987del (n.-212+1987del)
 gnomAD v4
12g.52306225G>ACA384919195KRT81,KRT86c.1192G>A (p.Gly398Ser)
c.1423G>A (p.Gly475Ser)
c.-212+1986C>T (n.-212+1986C>T)
12g.52306225G>CCA384919194KRT81,KRT86c.1192G>C (p.Gly398Arg)
c.1423G>C (p.Gly475Arg)
c.-212+1986C>G (n.-212+1986C>G)
12g.52306225G>TCA384919193KRT81,KRT86c.1192G>T (p.Gly398Cys)
c.1423G>T (p.Gly475Cys)
c.-212+1986C>A (n.-212+1986C>A)
12g.52306226G>ACA384919196KRT81,KRT86c.1193G>A (p.Gly398Asp)
c.1424G>A (p.Gly475Asp)
c.-212+1985C>T (n.-212+1985C>T)
12g.52306226G>CCA384919197KRT81,KRT86c.1193G>C (p.Gly398Ala)
c.1424G>C (p.Gly475Ala)
c.-212+1985C>G (n.-212+1985C>G)
12g.52306226G>TCA384919198KRT81,KRT86c.1193G>T (p.Gly398Val)
c.1424G>T (p.Gly475Val)
c.-212+1985C>A (n.-212+1985C>A)
12g.52306227C>ACA479841576KRT81,KRT86c.1194C>A (p.Gly398=)
c.1425C>A (p.Gly475=)
c.-212+1984G>T (n.-212+1984G>T)
12g.52306227C>GCA479841572KRT81,KRT86c.1194C>G (p.Gly398=)
c.1425C>G (p.Gly475=)
c.-212+1984G>C (n.-212+1984G>C)
12g.52306227C>TCA479841574KRT81,KRT86c.1194C>T (p.Gly398=)
c.1425C>T (p.Gly475=)
c.-212+1984G>A (n.-212+1984G>A)
12g.52306228C>ACA384919199KRT81,KRT86c.1195C>A (p.Leu399Met)
c.1426C>A (p.Leu476Met)
c.-212+1983G>T (n.-212+1983G>T)
12g.52306228C>GCA384919200KRT81,KRT86c.1195C>G (p.Leu399Val)
c.1426C>G (p.Leu476Val)
c.-212+1983G>C (n.-212+1983G>C)
12g.52306228C>TCA479841581KRT81,KRT86c.1195C>T (p.Leu399=)
c.1426C>T (p.Leu476=)
c.-212+1983G>A (n.-212+1983G>A)

Number of alleles fetched