Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52469683_52469710delinsCCTCCAGCAGCTTGCGGTAGGTGGCGATCA2036492909KRT6Cc.1384_1411delinsATCGCCACCTACCGCAAGCTGCTGGAGG (p.Ile462=)
12g.52469689_52469715delCA151185KRT6Cc.1384_1410del (p.Ile462_Glu470del)
ClinVar dbSNP
12g.52469692G>ACA480068843KRT6Cc.1402C>T (p.Leu468=)
12g.52469692G>CCA384934651KRT6Cc.1402C>G (p.Leu468Val)
12g.52469692G>TCA384934650KRT6Cc.1402C>A (p.Leu468Met)
12g.52469693C>ACA384934653KRT6Cc.1401G>T (p.Lys467Asn)
12g.52469693C=CA2036492930KRT6Cc.1401G= (p.Lys467=)
12g.52469693C>GCA384934654KRT6Cc.1401G>C (p.Lys467Asn)
12g.52469693C>TCA6581136KRT6Cc.1401G>A (p.Lys467=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469694T>ACA384934662KRT6Cc.1400A>T (p.Lys467Met)
12g.52469694T>CCA384934666KRT6Cc.1400A>G (p.Lys467Arg)
12g.52469694T>GCA384934669KRT6Cc.1400A>C (p.Lys467Thr)
12g.52469695T>ACA6581137KRT6Cc.1399A>T (p.Lys467Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52469695T>CCA384934674KRT6Cc.1399A>G (p.Lys467Glu)
12g.52469695T>GCA384934675KRT6Cc.1399A>C (p.Lys467Gln)
12g.52469695T=CA2036492936KRT6Cc.1399A= (p.Lys467=)
12g.52469696G>ACA480068844KRT6Cc.1398C>T (p.Arg466=)
12g.52469696G>CCA480068845KRT6Cc.1398C>G (p.Arg466=)
12g.52469696G>TCA480068846KRT6Cc.1398C>A (p.Arg466=)
12g.52469697C>ACA384934678KRT6Cc.1397G>T (p.Arg466Leu)
gnomAD v4
12g.52469697C=CA2036492938KRT6Cc.1397G= (p.Arg466=)
12g.52469697C>GCA384934679KRT6Cc.1397G>C (p.Arg466Pro)
12g.52469697C>TCA6581138KRT6Cc.1397G>A (p.Arg466His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469698G>ACA6581139KRT6Cc.1396C>T (p.Arg466Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469698G>CCA384934706KRT6Cc.1396C>G (p.Arg466Gly)
12g.52469698G=CA2036492943KRT6Cc.1396C= (p.Arg466=)
12g.52469698G>TCA384934681KRT6Cc.1396C>A (p.Arg466Ser)
12g.52469699G>ACA480068847KRT6Cc.1395C>T (p.Tyr465=)
12g.52469699G>CCA384934712KRT6Cc.1395C>G (p.Tyr465Ter)
12g.52469699G>TCA384934715KRT6Cc.1395C>A (p.Tyr465Ter)
gnomAD v4
12g.52469700T>ACA384934724KRT6Cc.1394A>T (p.Tyr465Phe)
12g.52469700T>CCA384934725KRT6Cc.1394A>G (p.Tyr465Cys)
gnomAD v4
12g.52469700T>GCA384934726KRT6Cc.1394A>C (p.Tyr465Ser)
12g.52469701A>CCA384934730KRT6Cc.1393T>G (p.Tyr465Asp)
12g.52469701A>GCA384934727KRT6Cc.1393T>C (p.Tyr465His)
12g.52469701A>TCA384934728KRT6Cc.1393T>A (p.Tyr465Asn)
12g.52469702G>ACA480068848KRT6Cc.1392C>T (p.Thr464=)
gnomAD v4
12g.52469702G>CCA480068850KRT6Cc.1392C>G (p.Thr464=)
dbSNP gnomAD v2 gnomAD v4
12g.52469702G=CA2036492952KRT6Cc.1392C= (p.Thr464=)
12g.52469702G>TCA480068849KRT6Cc.1392C>A (p.Thr464=)
12g.52469703delCA2618928154KRT6Cc.1392del (p.Tyr465ThrfsTer12)
gnomAD v4
12g.52469703G>ACA237212242KRT6Cc.1391C>T (p.Thr464Ile)
dbSNP
12g.52469703G>CCA384934741KRT6Cc.1391C>G (p.Thr464Ser)
12g.52469703G=CA2036492957KRT6Cc.1391C= (p.Thr464=)
12g.52469703G>TCA384934746KRT6Cc.1391C>A (p.Thr464Asn)
12g.52469704T>ACA384934749KRT6Cc.1390A>T (p.Thr464Ser)
12g.52469704T>CCA384934753KRT6Cc.1390A>G (p.Thr464Ala)
12g.52469704T>GCA384934757KRT6Cc.1390A>C (p.Thr464Pro)
12g.52469705G>ACA480068851KRT6Cc.1389C>T (p.Ala463=)
dbSNP gnomAD v2 gnomAD v4
12g.52469705G>CCA480068852KRT6Cc.1389C>G (p.Ala463=)
12g.52469705G=CA2036492961KRT6Cc.1389C= (p.Ala463=)
12g.52469705G>TCA480068853KRT6Cc.1389C>A (p.Ala463=)
12g.52469706G>ACA384934765KRT6Cc.1388C>T (p.Ala463Val)
12g.52469706G>CCA384934764KRT6Cc.1388C>G (p.Ala463Gly)
12g.52469706G>TCA384934760KRT6Cc.1388C>A (p.Ala463Asp)
12g.52469707C>ACA384934770KRT6Cc.1387G>T (p.Ala463Ser)
12g.52469707C=CA2036492966KRT6Cc.1387G= (p.Ala463=)
12g.52469707C>GCA384934767KRT6Cc.1387G>C (p.Ala463Pro)
gnomAD v4
12g.52469707C>TCA6581140KRT6Cc.1387G>A (p.Ala463Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52469708G>ACA6581141KRT6Cc.1386C>T (p.Ile462=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52469708G>CCA384934772KRT6Cc.1386C>G (p.Ile462Met)
12g.52469708G=CA2036492973KRT6Cc.1386C= (p.Ile462=)
12g.52469708G>TCA480068854KRT6Cc.1386C>A (p.Ile462=)
dbSNP
12g.52469709A>CCA384934774KRT6Cc.1385T>G (p.Ile462Ser)
12g.52469709A>GCA384934775KRT6Cc.1385T>C (p.Ile462Thr)
12g.52469709A>TCA384934777KRT6Cc.1385T>A (p.Ile462Asn)
12g.52469710T>ACA384934780KRT6Cc.1384A>T (p.Ile462Phe)
12g.52469710T>CCA6581142KRT6Cc.1384A>G (p.Ile462Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469710T>GCA384934792KRT6Cc.1384A>C (p.Ile462Leu)
12g.52469710T=CA2036492979KRT6Cc.1384A= (p.Ile462=)
12g.52469711C>ACA384934795KRT6Cc.1383G>T (p.Glu461Asp)
12g.52469711C>GCA384934798KRT6Cc.1383G>C (p.Glu461Asp)
12g.52469711C>TCA480068856KRT6Cc.1383G>A (p.Glu461=)
12g.52469712T>ACA384934803KRT6Cc.1382A>T (p.Glu461Val)
gnomAD v4
12g.52469712T>CCA384934806KRT6Cc.1382A>G (p.Glu461Gly)
12g.52469712T>GCA384934809KRT6Cc.1382A>C (p.Glu461Ala)
12g.52469713C>ACA384934812KRT6Cc.1381G>T (p.Glu461Ter)
12g.52469713C>GCA384934811KRT6Cc.1381G>C (p.Glu461Gln)
12g.52469713C>TCA384934810KRT6Cc.1381G>A (p.Glu461Lys)
12g.52469714C>ACA480068859KRT6Cc.1380G>T (p.Val460=)
12g.52469714C=CA2036492989KRT6Cc.1380G= (p.Val460=)
12g.52469714C>GCA480068860KRT6Cc.1380G>C (p.Val460=)
12g.52469714C>TCA480068861KRT6Cc.1380G>A (p.Val460=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52469715A>CCA384934814KRT6Cc.1379T>G (p.Val460Gly)
12g.52469715A>GCA384934817KRT6Cc.1379T>C (p.Val460Ala)
12g.52469715A>TCA384934819KRT6Cc.1379T>A (p.Val460Glu)
12g.52469716C>ACA384934824KRT6Cc.1378G>T (p.Val460Leu)
12g.52469716C>GCA384934827KRT6Cc.1378G>C (p.Val460Leu)
12g.52469716C>TCA384934830KRT6Cc.1378G>A (p.Val460Met)
12g.52469716_52469717insCCACCGCA2546763571KRT6Cc.1377_1378insCGGTGG (p.Asp459_Val460insArgTrp)
12g.52469717A=CA2036492997KRT6Cc.1377T= (p.Asp459=)
12g.52469717A>CCA384934836KRT6Cc.1377T>G (p.Asp459Glu)
12g.52469717A>GCA6581143KRT6Cc.1377T>C (p.Asp459=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469717A>TCA384934841KRT6Cc.1377T>A (p.Asp459Glu)
12g.52469718T>ACA384934856KRT6Cc.1376A>T (p.Asp459Val)
12g.52469718T>CCA384934863KRT6Cc.1376A>G (p.Asp459Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52469718T>GCA384934864KRT6Cc.1376A>C (p.Asp459Ala)
12g.52469718T=CA2036493001KRT6Cc.1376A= (p.Asp459=)
12g.52469719C>ACA384934885KRT6Cc.1375G>T (p.Asp459Tyr)
12g.52469719C>GCA384934881KRT6Cc.1375G>C (p.Asp459His)
gnomAD v4
12g.52469719C>TCA384934877KRT6Cc.1375G>A (p.Asp459Asn)
12g.52469720C>ACA480068865KRT6Cc.1374G>T (p.Leu458=)
12g.52469720C>GCA480068866KRT6Cc.1374G>C (p.Leu458=)
12g.52469720C>TCA480068867KRT6Cc.1374G>A (p.Leu458=)
12g.52469721A=CA2036493005KRT6Cc.1373T= (p.Leu458=)
12g.52469721A>CCA384934888KRT6Cc.1373T>G (p.Leu458Arg)
12g.52469721A>GCA384934890KRT6Cc.1373T>C (p.Leu458Pro)
12g.52469721A>TCA6581144KRT6Cc.1373T>A (p.Leu458Gln)
dbSNP ExAC gnomAD v2
12g.52469722G>ACA480068871KRT6Cc.1372C>T (p.Leu458=)
gnomAD v4
12g.52469722G>CCA384934897KRT6Cc.1372C>G (p.Leu458Val)
12g.52469722G>TCA384934901KRT6Cc.1372C>A (p.Leu458Met)
12g.52469723G>ACA480068874KRT6Cc.1371C>T (p.Ala457=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52469723G>CCA480068876KRT6Cc.1371C>G (p.Ala457=)
12g.52469723G=CA2036493012KRT6Cc.1371C= (p.Ala457=)
12g.52469723G>TCA480068878KRT6Cc.1371C>A (p.Ala457=)
12g.52469724G>ACA384934904KRT6Cc.1370C>T (p.Ala457Val)
12g.52469724G>CCA384934907KRT6Cc.1370C>G (p.Ala457Gly)
12g.52469724G>TCA384934909KRT6Cc.1370C>A (p.Ala457Asp)
12g.52469725C>ACA384934915KRT6Cc.1369G>T (p.Ala457Ser)
COSMIC
12g.52469725C=CA2036493019KRT6Cc.1369G= (p.Ala457=)
12g.52469725C>GCA384934920KRT6Cc.1369G>C (p.Ala457Pro)
12g.52469725C>TCA384934923KRT6Cc.1369G>A (p.Ala457Thr)
dbSNP gnomAD v2 gnomAD v4
12g.52469726C>ACA480068881KRT6Cc.1368G>T (p.Leu456=)
12g.52469726C>GCA480068882KRT6Cc.1368G>C (p.Leu456=)
12g.52469726C>TCA480068883KRT6Cc.1368G>A (p.Leu456=)
12g.52469727A=CA2036493033KRT6Cc.1367T= (p.Leu456=)
12g.52469727A>CCA384934947KRT6Cc.1367T>G (p.Leu456Arg)
12g.52469727A>GCA384934944KRT6Cc.1367T>C (p.Leu456Pro)
12g.52469727A>TCA384934928KRT6Cc.1367T>A (p.Leu456Gln)
dbSNP gnomAD v3 gnomAD v4
12g.52469728G>ACA480068887KRT6Cc.1366C>T (p.Leu456=)
12g.52469728G>CCA384934950KRT6Cc.1366C>G (p.Leu456Val)
12g.52469728G>TCA384934953KRT6Cc.1366C>A (p.Leu456Met)
12g.52469729C>ACA384934958KRT6Cc.1365G>T (p.Lys455Asn)
12g.52469729C>GCA384934960KRT6Cc.1365G>C (p.Lys455Asn)
12g.52469729C>TCA480068889KRT6Cc.1365G>A (p.Lys455=)
12g.52469730T>ACA384934964KRT6Cc.1364A>T (p.Lys455Met)
12g.52469730T>CCA384934967KRT6Cc.1364A>G (p.Lys455Arg)
dbSNP gnomAD v4
12g.52469730T>GCA384934970KRT6Cc.1364A>C (p.Lys455Thr)
12g.52469730T=CA2036493036KRT6Cc.1364A= (p.Lys455=)
12g.52469731T>ACA384935009KRT6Cc.1363A>T (p.Lys455Ter)
12g.52469731T>CCA384935011KRT6Cc.1363A>G (p.Lys455Glu)
12g.52469731T>GCA384935036KRT6Cc.1363A>C (p.Lys455Gln)
12g.52469732G>ACA480068892KRT6Cc.1362C>T (p.Val454=)
12g.52469732G>CCA480068894KRT6Cc.1362C>G (p.Val454=)
COSMIC
12g.52469732G>TCA480068893KRT6Cc.1362C>A (p.Val454=)
12g.52469733A>CCA384935039KRT6Cc.1361T>G (p.Val454Gly)
12g.52469733A>GCA384935040KRT6Cc.1361T>C (p.Val454Ala)
12g.52469733A>TCA384935041KRT6Cc.1361T>A (p.Val454Asp)
12g.52469734C>ACA384935043KRT6Cc.1360G>T (p.Val454Phe)
12g.52469734C>GCA384935044KRT6Cc.1360G>C (p.Val454Leu)
12g.52469734C>TCA384935042KRT6Cc.1360G>A (p.Val454Ile)
ClinVar dbSNP gnomAD v4 COSMIC
12g.52469735A=CA2036493040KRT6Cc.1359T= (p.Asn453=)
12g.52469735A>CCA384935063KRT6Cc.1359T>G (p.Asn453Lys)
12g.52469735A>GCA6581145KRT6Cc.1359T>C (p.Asn453=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469735A>TCA384935055KRT6Cc.1359T>A (p.Asn453Lys)
gnomAD v4
12g.52469735dupCA2618928169KRT6Cc.1359dup (p.Val454CysfsTer?)
gnomAD v4
12g.52469736T>ACA384935068KRT6Cc.1358A>T (p.Asn453Ile)
12g.52469736T>CCA384935090KRT6Cc.1358A>G (p.Asn453Ser)
12g.52469736T>GCA384935094KRT6Cc.1358A>C (p.Asn453Thr)
12g.52469737T>ACA384935105KRT6Cc.1357A>T (p.Asn453Tyr)
12g.52469737T>CCA384935101KRT6Cc.1357A>G (p.Asn453Asp)
gnomAD v4
12g.52469737T>GCA384935098KRT6Cc.1357A>C (p.Asn453His)
12g.52469738C>ACA384935115KRT6Cc.1356G>T (p.Met452Ile)
12g.52469738C>GCA384935118KRT6Cc.1356G>C (p.Met452Ile)
12g.52469738C>TCA384935122KRT6Cc.1356G>A (p.Met452Ile)
gnomAD v4
12g.52469739A=CA2036493043KRT6Cc.1355T= (p.Met452=)
12g.52469739A>CCA384935124KRT6Cc.1355T>G (p.Met452Arg)
gnomAD v4
12g.52469739A>GCA384935126KRT6Cc.1355T>C (p.Met452Thr)
dbSNP gnomAD v2 gnomAD v4
12g.52469739A>TCA384935129KRT6Cc.1355T>A (p.Met452Lys)
dbSNP gnomAD v3 gnomAD v4
12g.52469740T>ACA384935133KRT6Cc.1354A>T (p.Met452Leu)
12g.52469740T>CCA384935138KRT6Cc.1354A>G (p.Met452Val)
12g.52469740T>GCA384935135KRT6Cc.1354A>C (p.Met452Leu)
gnomAD v4
12g.52469741C>ACA480068902KRT6Cc.1353G>T (p.Leu451=)
12g.52469741C=CA2036493049KRT6Cc.1353G= (p.Leu451=)
12g.52469741C>GCA480068903KRT6Cc.1353G>C (p.Leu451=)
12g.52469741C>TCA6581146KRT6Cc.1353G>A (p.Leu451=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469742A>CCA384935143KRT6Cc.1352T>G (p.Leu451Arg)
12g.52469742A>GCA384935147KRT6Cc.1352T>C (p.Leu451Pro)
12g.52469742A>TCA384935150KRT6Cc.1352T>A (p.Leu451Gln)
12g.52469743G>ACA480068904KRT6Cc.1351C>T (p.Leu451=)
dbSNP gnomAD v3 gnomAD v4
12g.52469743G>CCA384935152KRT6Cc.1351C>G (p.Leu451Val)
12g.52469743G=CA2036493058KRT6Cc.1351C= (p.Leu451=)
12g.52469743G>TCA384935155KRT6Cc.1351C>A (p.Leu451Met)
dbSNP
12g.52469744C>ACA384935157KRT6Cc.1350G>T (p.Glu450Asp)
12g.52469744C>GCA384935159KRT6Cc.1350G>C (p.Glu450Asp)
12g.52469744C>TCA480068974KRT6Cc.1350G>A (p.Glu450=)
gnomAD v4
12g.52469745T>ACA384935164KRT6Cc.1349A>T (p.Glu450Val)
12g.52469745T>CCA384935172KRT6Cc.1349A>G (p.Glu450Gly)
gnomAD v4
12g.52469745T>GCA384935174KRT6Cc.1349A>C (p.Glu450Ala)
12g.52469746C>ACA384935187KRT6Cc.1348G>T (p.Glu450Ter)
dbSNP gnomAD v4
12g.52469746C=CA2036493061KRT6Cc.1348G= (p.Glu450=)
12g.52469746C>GCA384935180KRT6Cc.1348G>C (p.Glu450Gln)
12g.52469746C>TCA384935177KRT6Cc.1348G>A (p.Glu450Lys)
gnomAD v4 COSMIC
12g.52469746_52469750delCA2618928175KRT6Cc.1344_1348del (p.Tyr448Ter)
gnomAD v4
12g.52469747C>ACA384935191KRT6Cc.1347G>T (p.Gln449His)
12g.52469747C>GCA384935202KRT6Cc.1347G>C (p.Gln449His)
12g.52469747C>TCA480068976KRT6Cc.1347G>A (p.Gln449=)
12g.52469748T>ACA384935209KRT6Cc.1346A>T (p.Gln449Leu)
12g.52469748T>CCA384935210KRT6Cc.1346A>G (p.Gln449Arg)
12g.52469748T>GCA384935212KRT6Cc.1346A>C (p.Gln449Pro)
12g.52469749G>ACA384935217KRT6Cc.1345C>T (p.Gln449Ter)
12g.52469749G>CCA384935220KRT6Cc.1345C>G (p.Gln449Glu)
12g.52469749G>TCA384935221KRT6Cc.1345C>A (p.Gln449Lys)
12g.52469750_52469764delCA645582415KRT6Cc.1331_1345del (p.Leu444_Tyr448del)
COSMIC
12g.52469750G>ACA480068978KRT6Cc.1344C>T (p.Tyr448=)
12g.52469750G>CCA384935224KRT6Cc.1344C>G (p.Tyr448Ter)
12g.52469750G>TCA384935230KRT6Cc.1344C>A (p.Tyr448Ter)
12g.52469751T>ACA384935237KRT6Cc.1343A>T (p.Tyr448Phe)
12g.52469751T>CCA384935239KRT6Cc.1343A>G (p.Tyr448Cys)
dbSNP
12g.52469751T>GCA384935243KRT6Cc.1343A>C (p.Tyr448Ser)
12g.52469751T=CA2036493063KRT6Cc.1343A= (p.Tyr448=)
12g.52469752A=CA2036493066KRT6Cc.1342T= (p.Tyr448=)
12g.52469752A>CCA384935248KRT6Cc.1342T>G (p.Tyr448Asp)
dbSNP
12g.52469752A>GCA384935246KRT6Cc.1342T>C (p.Tyr448His)
dbSNP gnomAD v4
12g.52469752A>TCA384935247KRT6Cc.1342T>A (p.Tyr448Asn)
gnomAD v4
12g.52469753delCA2618928176KRT6Cc.1341del (p.Glu447AspfsTer5)
gnomAD v4
12g.52469753C>ACA384935249KRT6Cc.1341G>T (p.Glu447Asp)
12g.52469753C>GCA384935250KRT6Cc.1341G>C (p.Glu447Asp)
12g.52469753C>TCA480068980KRT6Cc.1341G>A (p.Glu447=)
12g.52469754T>ACA384935254KRT6Cc.1340A>T (p.Glu447Val)
12g.52469754T>CCA384935256KRT6Cc.1340A>G (p.Glu447Gly)
12g.52469754T>GCA384935257KRT6Cc.1340A>C (p.Glu447Ala)
12g.52469755C>ACA6581147KRT6Cc.1339G>T (p.Glu447Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52469755C=CA2036493068KRT6Cc.1339G= (p.Glu447=)
12g.52469755C>GCA384935260KRT6Cc.1339G>C (p.Glu447Gln)
12g.52469755C>TCA384935261KRT6Cc.1339G>A (p.Glu447Lys)
12g.52469756C>ACA6581148KRT6Cc.1338G>T (p.Lys446Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469756C=CA2036493073KRT6Cc.1338G= (p.Lys446=)
12g.52469756C>GCA384935263KRT6Cc.1338G>C (p.Lys446Asn)
12g.52469756C>TCA480068983KRT6Cc.1338G>A (p.Lys446=)
12g.52469757T>ACA384935266KRT6Cc.1337A>T (p.Lys446Met)
12g.52469757T>CCA384935274KRT6Cc.1337A>G (p.Lys446Arg)
12g.52469757T>GCA384935275KRT6Cc.1337A>C (p.Lys446Thr)
12g.52469758T>ACA384935277KRT6Cc.1336A>T (p.Lys446Ter)
dbSNP gnomAD v4
12g.52469758T>CCA384935278KRT6Cc.1336A>G (p.Lys446Glu)
12g.52469758T>GCA384935276KRT6Cc.1336A>C (p.Lys446Gln)
12g.52469758T=CA2036493075KRT6Cc.1336A= (p.Lys446=)
12g.52469759C>ACA480068986KRT6Cc.1335G>T (p.Leu445=)
12g.52469759C>GCA480068985KRT6Cc.1335G>C (p.Leu445=)
12g.52469759C>TCA480068984KRT6Cc.1335G>A (p.Leu445=)
12g.52469760A>CCA384935280KRT6Cc.1334T>G (p.Leu445Arg)
12g.52469760A>GCA384935283KRT6Cc.1334T>C (p.Leu445Pro)
12g.52469760A>TCA384935281KRT6Cc.1334T>A (p.Leu445Gln)
12g.52469761G>ACA480068987KRT6Cc.1333C>T (p.Leu445=)
12g.52469761G>CCA384935286KRT6Cc.1333C>G (p.Leu445Val)
12g.52469761G>TCA384935287KRT6Cc.1333C>A (p.Leu445Met)
12g.52469762C>ACA480068989KRT6Cc.1332G>T (p.Leu444=)
12g.52469762C>GCA480068990KRT6Cc.1332G>C (p.Leu444=)
12g.52469762C>TCA480068991KRT6Cc.1332G>A (p.Leu444=)
12g.52469763A>CCA384935288KRT6Cc.1331T>G (p.Leu444Arg)
12g.52469763A>GCA384935290KRT6Cc.1331T>C (p.Leu444Pro)
12g.52469763A>TCA384935289KRT6Cc.1331T>A (p.Leu444Gln)
12g.52469764G>ACA480068994KRT6Cc.1330C>T (p.Leu444=)
12g.52469764G>CCA384935291KRT6Cc.1330C>G (p.Leu444Val)
gnomAD v4
12g.52469764G>TCA384935298KRT6Cc.1330C>A (p.Leu444Met)
12g.52469764_52469765delinsGCCA2036493081KRT6Cc.1329_1330delinsGC (p.Arg443=)
12g.52469765C>ACA480068996KRT6Cc.1329G>T (p.Arg443=)
dbSNP
12g.52469765C=CA2036493084KRT6Cc.1329G= (p.Arg443=)
12g.52469765C>GCA480068997KRT6Cc.1329G>C (p.Arg443=)
12g.52469765C>TCA6581149KRT6Cc.1329G>A (p.Arg443=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52469766delCA689823321KRT6Cc.1329del (p.Leu444CysfsTer2)
dbSNP gnomAD v3 gnomAD v4
12g.52469766C>ACA384935308KRT6Cc.1328G>T (p.Arg443Leu)
gnomAD v4
12g.52469766C=CA2036493088KRT6Cc.1328G= (p.Arg443=)
12g.52469766C>GCA384935311KRT6Cc.1328G>C (p.Arg443Pro)
12g.52469766C>TCA6581150KRT6Cc.1328G>A (p.Arg443Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469767G>ACA6581151KRT6Cc.1327C>T (p.Arg443Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52469767G>CCA384935314KRT6Cc.1327C>G (p.Arg443Gly)
12g.52469767G=CA2036493091KRT6Cc.1327C= (p.Arg443=)
12g.52469767G>TCA237212355KRT6Cc.1327C>A (p.Arg443=)
dbSNP gnomAD v3 gnomAD v4
12g.52469768G>ACA480069001KRT6Cc.1326C>T (p.Ala442=)
12g.52469768G>CCA480069002KRT6Cc.1326C>G (p.Ala442=)
12g.52469768G>TCA480069003KRT6Cc.1326C>A (p.Ala442=)
12g.52469769G>ACA384935315KRT6Cc.1325C>T (p.Ala442Val)
12g.52469769G>CCA384935317KRT6Cc.1325C>G (p.Ala442Gly)
12g.52469769G=CA2036493097KRT6Cc.1325C= (p.Ala442=)
12g.52469769G>TCA384935321KRT6Cc.1325C>A (p.Ala442Asp)
dbSNP gnomAD v2 gnomAD v4
12g.52469770C>ACA384935324KRT6Cc.1324G>T (p.Ala442Ser)
12g.52469770C=CA2036493100KRT6Cc.1324G= (p.Ala442=)
12g.52469770C>GCA384935322KRT6Cc.1324G>C (p.Ala442Pro)
12g.52469770C>TCA384935323KRT6Cc.1324G>A (p.Ala442Thr)
dbSNP gnomAD v3 gnomAD v4
12g.52469771C>ACA480069005KRT6Cc.1323G>T (p.Leu441=)
12g.52469771C>GCA480069006KRT6Cc.1323G>C (p.Leu441=)
12g.52469771C>TCA480069007KRT6Cc.1323G>A (p.Leu441=)
12g.52469772A>CCA384935328KRT6Cc.1322T>G (p.Leu441Arg)
12g.52469772A>GCA384935330KRT6Cc.1322T>C (p.Leu441Pro)
gnomAD v4
12g.52469772A>TCA384935331KRT6Cc.1322T>A (p.Leu441Gln)
12g.52469773G>ACA480069009KRT6Cc.1321C>T (p.Leu441=)
dbSNP gnomAD v4
12g.52469773G>CCA384935332KRT6Cc.1321C>G (p.Leu441Val)
gnomAD v4
12g.52469773G=CA2036493106KRT6Cc.1321C= (p.Leu441=)
12g.52469773G>TCA6581152KRT6Cc.1321C>A (p.Leu441Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469774delCA2618928178KRT6Cc.1321del (p.Leu441TrpfsTer5)
gnomAD v4
12g.52469774G>ACA480069010KRT6Cc.1320C>T (p.Asp440=)
dbSNP gnomAD v4
12g.52469774G>CCA384935333KRT6Cc.1320C>G (p.Asp440Glu)
12g.52469774G=CA2036493114KRT6Cc.1320C= (p.Asp440=)
12g.52469774G>TCA384935336KRT6Cc.1320C>A (p.Asp440Glu)
gnomAD v4
12g.52469775T>ACA384935343KRT6Cc.1319A>T (p.Asp440Val)
12g.52469775T>CCA384935349KRT6Cc.1319A>G (p.Asp440Gly)
COSMIC
12g.52469775T>GCA384935351KRT6Cc.1319A>C (p.Asp440Ala)
12g.52469775_52469776delinsTCCA2036493138KRT6Cc.1318_1319delinsGA (p.Asp440=)
12g.52469776C>ACA384935355KRT6Cc.1318G>T (p.Asp440Tyr)
12g.52469776C>GCA384935358KRT6Cc.1318G>C (p.Asp440His)
12g.52469776C>TCA384935353KRT6Cc.1318G>A (p.Asp440Asn)
12g.52469777delCA605240459KRT6Cc.1318del (p.Asp440ThrfsTer6)
dbSNP gnomAD v2 gnomAD v4
12g.52469777C>ACA384935365KRT6Cc.1317G>T (p.Gln439His)
12g.52469777C>GCA384935367KRT6Cc.1317G>C (p.Gln439His)
12g.52469777C>TCA480069014KRT6Cc.1317G>A (p.Gln439=)
12g.52469778T>ACA384935372KRT6Cc.1316A>T (p.Gln439Leu)
12g.52469778T>CCA384935378KRT6Cc.1316A>G (p.Gln439Arg)
12g.52469778T>GCA6581153KRT6Cc.1316A>C (p.Gln439Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52469778T=CA2036493146KRT6Cc.1316A= (p.Gln439=)
12g.52469779G>ACA384935394KRT6Cc.1315C>T (p.Gln439Ter)
12g.52469779G>CCA6581154KRT6Cc.1315C>G (p.Gln439Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469779G=CA2036493149KRT6Cc.1315C= (p.Gln439=)
12g.52469779G>TCA384935387KRT6Cc.1315C>A (p.Gln439Lys)
dbSNP gnomAD v3 gnomAD v4
12g.52469780C>ACA384935397KRT6Cc.1314G>T (p.Lys438Asn)
12g.52469780C=CA2036493154KRT6Cc.1314G= (p.Lys438=)
12g.52469780C>GCA384935399KRT6Cc.1314G>C (p.Lys438Asn)
12g.52469780C>TCA6581155KRT6Cc.1314G>A (p.Lys438=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52469781T>ACA384935402KRT6Cc.1313A>T (p.Lys438Met)
12g.52469781T>CCA384935403KRT6Cc.1313A>G (p.Lys438Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52469781T>GCA384935404KRT6Cc.1313A>C (p.Lys438Thr)
gnomAD v4
12g.52469781T=CA2036493163KRT6Cc.1313A= (p.Lys438=)
12g.52469782T>ACA384935405KRT6Cc.1312A>T (p.Lys438Ter)
12g.52469782T>CCA384935409KRT6Cc.1312A>G (p.Lys438Glu)
12g.52469782T>GCA384935407KRT6Cc.1312A>C (p.Lys438Gln)
12g.52469783G>ACA480069019KRT6Cc.1311C>T (p.Ala437=)
12g.52469783G>CCA480069020KRT6Cc.1311C>G (p.Ala437=)
12g.52469783G>TCA480069021KRT6Cc.1311C>A (p.Ala437=)
12g.52469784G>ACA384935410KRT6Cc.1310C>T (p.Ala437Val)
12g.52469784G>CCA384935417KRT6Cc.1310C>G (p.Ala437Gly)
gnomAD v4
12g.52469784G>TCA384935419KRT6Cc.1310C>A (p.Ala437Asp)
12g.52469785C>ACA384935420KRT6Cc.1309G>T (p.Ala437Ser)
12g.52469785C>GCA384935421KRT6Cc.1309G>C (p.Ala437Pro)
12g.52469785C>TCA384935422KRT6Cc.1309G>A (p.Ala437Thr)
12g.52469786C>ACA384935423KRT6Cc.1308G>T (p.Lys436Asn)
12g.52469786C=CA2036493175KRT6Cc.1308G= (p.Lys436=)
12g.52469786C>GCA384935425KRT6Cc.1308G>C (p.Lys436Asn)
12g.52469786C>TCA480069026KRT6Cc.1308G>A (p.Lys436=)
dbSNP gnomAD v4
12g.52469787T>ACA384935426KRT6Cc.1307A>T (p.Lys436Met)
12g.52469787T>CCA384935427KRT6Cc.1307A>G (p.Lys436Arg)
12g.52469787T>GCA384935428KRT6Cc.1307A>C (p.Lys436Thr)
12g.52469788T>ACA384935439KRT6Cc.1306A>T (p.Lys436Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52469788T>CCA384935436KRT6Cc.1306A>G (p.Lys436Glu)
12g.52469788T>GCA384935431KRT6Cc.1306A>C (p.Lys436Gln)
12g.52469788T=CA2036493182KRT6Cc.1306A= (p.Lys436=)
12g.52469789C>ACA384935440KRT6Cc.1305G>T (p.Gln435His)
12g.52469789C>GCA384935441KRT6Cc.1305G>C (p.Gln435His)
12g.52469789C>TCA480069027KRT6Cc.1305G>A (p.Gln435=)
12g.52469790T>ACA384935442KRT6Cc.1304A>T (p.Gln435Leu)
gnomAD v4
12g.52469790T>CCA384935443KRT6Cc.1304A>G (p.Gln435Arg)
12g.52469790T>GCA384935444KRT6Cc.1304A>C (p.Gln435Pro)
12g.52469791G>ACA384935445KRT6Cc.1303C>T (p.Gln435Ter)
12g.52469791G>CCA384935447KRT6Cc.1303C>G (p.Gln435Glu)
12g.52469791G>TCA384935448KRT6Cc.1303C>A (p.Gln435Lys)
gnomAD v4
12g.52469792C>ACA480069030KRT6Cc.1302G>T (p.Leu434=)
12g.52469792C>GCA480069031KRT6Cc.1302G>C (p.Leu434=)
12g.52469792C>TCA480069032KRT6Cc.1302G>A (p.Leu434=)
gnomAD v4

Number of alleles fetched