Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52487856C>ACA384952649KRT6Ac.1559G>T (p.Gly520Val)
12g.52487856C=CA2036520036KRT6Ac.1559G= (p.Gly520=)
12g.52487856C>GCA384952651KRT6Ac.1559G>C (p.Gly520Ala)
dbSNP
12g.52487856C>TCA6581766KRT6Ac.1559G>A (p.Gly520Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487857C>ACA384952660KRT6Ac.1558G>T (p.Gly520Cys)
12g.52487857C>GCA384952658KRT6Ac.1558G>C (p.Gly520Arg)
12g.52487857C>TCA384952655KRT6Ac.1558G>A (p.Gly520Ser)
12g.52487858A>CCA384952663KRT6Ac.1557T>G (p.Ser519Arg)
12g.52487858A>GCA479852302KRT6Ac.1557T>C (p.Ser519=)
12g.52487858A>TCA384952672KRT6Ac.1557T>A (p.Ser519Arg)
12g.52487859C>ACA384952674KRT6Ac.1556G>T (p.Ser519Ile)
12g.52487859C=CA2036520037KRT6Ac.1556G= (p.Ser519=)
12g.52487859C>GCA384952684KRT6Ac.1556G>C (p.Ser519Thr)
dbSNP gnomAD v2 gnomAD v4
12g.52487859C>TCA384952687KRT6Ac.1556G>A (p.Ser519Asn)
12g.52487860T>ACA384952689KRT6Ac.1555A>T (p.Ser519Cys)
12g.52487860T>CCA384952692KRT6Ac.1555A>G (p.Ser519Gly)
12g.52487860T>GCA384952696KRT6Ac.1555A>C (p.Ser519Arg)
gnomAD v4
12g.52487860_52487920delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCCA2036520038KRT6Ac.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA (p.Gly499=)
12g.52487861G>ACA479852305KRT6Ac.1554C>T (p.Gly518=)
12g.52487861G>CCA479852307KRT6Ac.1554C>G (p.Gly518=)
12g.52487861G=CA2036520039KRT6Ac.1554C= (p.Gly518=)
12g.52487861G>TCA479852308KRT6Ac.1554C>A (p.Gly518=)
dbSNP
12g.52487868_52487927delCA6581767KRT6Ac.1495_1554del (p.Gly499_Gly518del)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.52487862C>ACA384952699KRT6Ac.1553G>T (p.Gly518Val)
12g.52487862C>GCA384952703KRT6Ac.1553G>C (p.Gly518Ala)
12g.52487862C>TCA384952705KRT6Ac.1553G>A (p.Gly518Asp)
gnomAD v4
12g.52487863C>ACA384952711KRT6Ac.1552G>T (p.Gly518Cys)
12g.52487863C>GCA384952708KRT6Ac.1552G>C (p.Gly518Arg)
12g.52487863C>TCA384952707KRT6Ac.1552G>A (p.Gly518Ser)
12g.52487864A=CA2036520040KRT6Ac.1551T= (p.Tyr517=)
12g.52487864A>CCA384952714KRT6Ac.1551T>G (p.Tyr517Ter)
12g.52487864A>GCA6581768KRT6Ac.1551T>C (p.Tyr517=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52487864A>TCA384952716KRT6Ac.1551T>A (p.Tyr517Ter)
12g.52487865T>ACA384952718KRT6Ac.1550A>T (p.Tyr517Phe)
12g.52487865T>CCA384952720KRT6Ac.1550A>G (p.Tyr517Cys)
gnomAD v4 COSMIC
12g.52487865T>GCA384952721KRT6Ac.1550A>C (p.Tyr517Ser)
gnomAD v4
12g.52487866A>CCA384952723KRT6Ac.1549T>G (p.Tyr517Asp)
12g.52487866A>GCA384952724KRT6Ac.1549T>C (p.Tyr517His)
12g.52487866A>TCA384952726KRT6Ac.1549T>A (p.Tyr517Asn)
12g.52487867G>ACA479852309KRT6Ac.1548C>T (p.Ser516=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487867G>CCA479852310KRT6Ac.1548C>G (p.Ser516=)
12g.52487867G=CA2036520041KRT6Ac.1548C= (p.Ser516=)
12g.52487867G>TCA479852311KRT6Ac.1548C>A (p.Ser516=)
12g.52487868G>ACA384952727KRT6Ac.1547C>T (p.Ser516Phe)
dbSNP gnomAD v2 gnomAD v4
12g.52487868G>CCA384952728KRT6Ac.1547C>G (p.Ser516Cys)
12g.52487868G=CA2036520042KRT6Ac.1547C= (p.Ser516=)
12g.52487868G>TCA384952730KRT6Ac.1547C>A (p.Ser516Tyr)
12g.52487869A=CA2036520043KRT6Ac.1546T= (p.Ser516=)
12g.52487869A>CCA384952734KRT6Ac.1546T>G (p.Ser516Ala)
12g.52487869A>GCA6581769KRT6Ac.1546T>C (p.Ser516Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487869A>TCA384952732KRT6Ac.1546T>A (p.Ser516Thr)
gnomAD v4
12g.52487870G>ACA479852312KRT6Ac.1545C>T (p.Tyr515=)
COSMIC
12g.52487870G>CCA384952736KRT6Ac.1545C>G (p.Tyr515Ter)
12g.52487870G>TCA384952738KRT6Ac.1545C>A (p.Tyr515Ter)
12g.52487871T>ACA384952740KRT6Ac.1544A>T (p.Tyr515Phe)
12g.52487871T>CCA384952741KRT6Ac.1544A>G (p.Tyr515Cys)
12g.52487871T>GCA384952742KRT6Ac.1544A>C (p.Tyr515Ser)
12g.52487872A=CA2036520044KRT6Ac.1543T= (p.Tyr515=)
12g.52487872A>CCA384952743KRT6Ac.1543T>G (p.Tyr515Asp)
12g.52487872A>GCA6581770KRT6Ac.1543T>C (p.Tyr515His)
dbSNP ExAC gnomAD v2
12g.52487872A>TCA384952744KRT6Ac.1543T>A (p.Tyr515Asn)
12g.52487873G>ACA479852313KRT6Ac.1542C>T (p.Ser514=)
12g.52487873G>CCA384952745KRT6Ac.1542C>G (p.Ser514Arg)
12g.52487873G>TCA384952746KRT6Ac.1542C>A (p.Ser514Arg)
12g.52487874C>ACA384952747KRT6Ac.1541G>T (p.Ser514Ile)
12g.52487874C=CA2036520045KRT6Ac.1541G= (p.Ser514=)
12g.52487874C>GCA384952748KRT6Ac.1541G>C (p.Ser514Thr)
12g.52487874C>TCA6581771KRT6Ac.1541G>A (p.Ser514Asn)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.52487875T>ACA384952751KRT6Ac.1540A>T (p.Ser514Cys)
COSMIC
12g.52487875T>CCA384952750KRT6Ac.1540A>G (p.Ser514Gly)
12g.52487875T>GCA384952749KRT6Ac.1540A>C (p.Ser514Arg)
12g.52487876G>ACA479852314KRT6Ac.1539C>T (p.Ser513=)
gnomAD v4
12g.52487876G>CCA384952753KRT6Ac.1539C>G (p.Ser513Arg)
12g.52487876G>TCA384952752KRT6Ac.1539C>A (p.Ser513Arg)
gnomAD v4
12g.52487877C>ACA384952755KRT6Ac.1538G>T (p.Ser513Ile)
12g.52487877C=CA2036520046KRT6Ac.1538G= (p.Ser513=)
12g.52487877C>GCA384952754KRT6Ac.1538G>C (p.Ser513Thr)
12g.52487877C>TCA384952756KRT6Ac.1538G>A (p.Ser513Asn)
dbSNP gnomAD v2 gnomAD v4
12g.52487878T>ACA384952757KRT6Ac.1537A>T (p.Ser513Cys)
12g.52487878T>CCA384952759KRT6Ac.1537A>G (p.Ser513Gly)
COSMIC
12g.52487878T>GCA384952758KRT6Ac.1537A>C (p.Ser513Arg)
12g.52487879T>ACA479852315KRT6Ac.1536A>T (p.Gly512=)
12g.52487879T>CCA479852317KRT6Ac.1536A>G (p.Gly512=)
12g.52487879T>GCA479852316KRT6Ac.1536A>C (p.Gly512=)
12g.52487880C>ACA384952760KRT6Ac.1535G>T (p.Gly512Val)
12g.52487880C>GCA384952762KRT6Ac.1535G>C (p.Gly512Ala)
12g.52487880C>TCA384952761KRT6Ac.1535G>A (p.Gly512Glu)
12g.52487881C>ACA384952763KRT6Ac.1534G>T (p.Gly512Ter)
12g.52487881C>GCA384952764KRT6Ac.1534G>C (p.Gly512Arg)
12g.52487881C>TCA384952765KRT6Ac.1534G>A (p.Gly512Arg)
ClinVar COSMIC
12g.52487882T>ACA479852318KRT6Ac.1533A>T (p.Gly511=)
12g.52487882T>CCA479852319KRT6Ac.1533A>G (p.Gly511=)
12g.52487882T>GCA479852320KRT6Ac.1533A>C (p.Gly511=)
12g.52487883C>ACA384952766KRT6Ac.1532G>T (p.Gly511Val)
12g.52487883C>GCA384952767KRT6Ac.1532G>C (p.Gly511Ala)
12g.52487883C>TCA384952768KRT6Ac.1532G>A (p.Gly511Glu)
gnomAD v4
12g.52487884C>ACA384952769KRT6Ac.1531G>T (p.Gly511Ter)
12g.52487884C=CA2036520047KRT6Ac.1531G= (p.Gly511=)
12g.52487884C>GCA384952770KRT6Ac.1531G>C (p.Gly511Arg)
12g.52487884C>TCA384952771KRT6Ac.1531G>A (p.Gly511Arg)
dbSNP gnomAD v3 gnomAD v4
12g.52487885A>CCA479852321KRT6Ac.1530T>G (p.Gly510=)
dbSNP
12g.52487885A>GCA479852322KRT6Ac.1530T>C (p.Gly510=)
gnomAD v4
12g.52487885A>TCA479852323KRT6Ac.1530T>A (p.Gly510=)
12g.52487886C>ACA384952772KRT6Ac.1529G>T (p.Gly510Val)
ClinVar dbSNP
12g.52487886C=CA2036520048KRT6Ac.1529G= (p.Gly510=)
12g.52487886C>GCA384952773KRT6Ac.1529G>C (p.Gly510Ala)
gnomAD v4
12g.52487886C>TCA384952774KRT6Ac.1529G>A (p.Gly510Asp)
dbSNP gnomAD v3 gnomAD v4
12g.52487887C>ACA384952777KRT6Ac.1528G>T (p.Gly510Cys)
12g.52487887C>GCA384952775KRT6Ac.1528G>C (p.Gly510Arg)
12g.52487887C>TCA384952776KRT6Ac.1528G>A (p.Gly510Ser)
12g.52487888C>ACA479852325KRT6Ac.1527G>T (p.Leu509=)
12g.52487888C=CA2036520049KRT6Ac.1527G= (p.Leu509=)
12g.52487888C>GCA479852324KRT6Ac.1527G>C (p.Leu509=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487888C>TCA6581772KRT6Ac.1527G>A (p.Leu509=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487889A>CCA384952778KRT6Ac.1526T>G (p.Leu509Arg)
12g.52487889A>GCA384952779KRT6Ac.1526T>C (p.Leu509Pro)
12g.52487889A>TCA384952780KRT6Ac.1526T>A (p.Leu509Gln)
12g.52487890G>ACA6581773KRT6Ac.1525C>T (p.Leu509=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487890G>CCA384952781KRT6Ac.1525C>G (p.Leu509Val)
12g.52487890G=CA2036520050KRT6Ac.1525C= (p.Leu509=)
12g.52487890G>TCA384952782KRT6Ac.1525C>A (p.Leu509Met)
12g.52487891G>ACA6581774KRT6Ac.1524C>T (p.Gly508=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52487891G>CCA479852326KRT6Ac.1524C>G (p.Gly508=)
12g.52487891G=CA2036520051KRT6Ac.1524C= (p.Gly508=)
12g.52487891G>TCA479852327KRT6Ac.1524C>A (p.Gly508=)
12g.52487892C>ACA384952783KRT6Ac.1523G>T (p.Gly508Val)
12g.52487892C=CA2036520052KRT6Ac.1523G= (p.Gly508=)
12g.52487892C>GCA6581775KRT6Ac.1523G>C (p.Gly508Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487892C>TCA384952784KRT6Ac.1523G>A (p.Gly508Asp)
gnomAD v4
12g.52487893C>ACA384952787KRT6Ac.1522G>T (p.Gly508Cys)
12g.52487893C>GCA384952786KRT6Ac.1522G>C (p.Gly508Arg)
12g.52487893C>TCA384952785KRT6Ac.1522G>A (p.Gly508Ser)
12g.52487894T>ACA384952789KRT6Ac.1521A>T (p.Leu507Phe)
12g.52487894T>CCA479852328KRT6Ac.1521A>G (p.Leu507=)
12g.52487894T>GCA384952788KRT6Ac.1521A>C (p.Leu507Phe)
12g.52487895A>CCA384952790KRT6Ac.1520T>G (p.Leu507Ter)
12g.52487895A>GCA384952791KRT6Ac.1520T>C (p.Leu507Ser)
12g.52487895A>TCA384952792KRT6Ac.1520T>A (p.Leu507Ter)
12g.52487896A=CA2036520053KRT6Ac.1519T= (p.Leu507=)
12g.52487896A>CCA384952793KRT6Ac.1519T>G (p.Leu507Val)
12g.52487896A>GCA479852329KRT6Ac.1519T>C (p.Leu507=)
dbSNP gnomAD v3 gnomAD v4
12g.52487896A>TCA384952794KRT6Ac.1519T>A (p.Leu507Ile)
12g.52487897G>ACA479852330KRT6Ac.1518C>T (p.Gly506=)
12g.52487897G>CCA479852331KRT6Ac.1518C>G (p.Gly506=)
12g.52487897G>TCA479852332KRT6Ac.1518C>A (p.Gly506=)
12g.52487898C>ACA384952797KRT6Ac.1517G>T (p.Gly506Val)
12g.52487898C>GCA384952795KRT6Ac.1517G>C (p.Gly506Ala)
12g.52487898C>TCA384952796KRT6Ac.1517G>A (p.Gly506Asp)
12g.52487899C>ACA384952798KRT6Ac.1516G>T (p.Gly506Cys)
12g.52487899C>GCA384952799KRT6Ac.1516G>C (p.Gly506Arg)
12g.52487899C>TCA384952800KRT6Ac.1516G>A (p.Gly506Ser)
12g.52487900A>CCA384952801KRT6Ac.1515T>G (p.Ser505Arg)
gnomAD v4
12g.52487900A>GCA479852333KRT6Ac.1515T>C (p.Ser505=)
12g.52487900A>TCA384952802KRT6Ac.1515T>A (p.Ser505Arg)
12g.52487901C>ACA384952803KRT6Ac.1514G>T (p.Ser505Ile)
12g.52487901C=CA2036520054KRT6Ac.1514G= (p.Ser505=)
12g.52487901C>GCA384952806KRT6Ac.1514G>C (p.Ser505Thr)
12g.52487901C>TCA384952805KRT6Ac.1514G>A (p.Ser505Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487902T>ACA384952808KRT6Ac.1513A>T (p.Ser505Cys)
12g.52487902T>CCA384952810KRT6Ac.1513A>G (p.Ser505Gly)
gnomAD v4
12g.52487902T>GCA384952811KRT6Ac.1513A>C (p.Ser505Arg)
12g.52487903G>ACA479852334KRT6Ac.1512C>T (p.Gly504=)
12g.52487903G>CCA479852335KRT6Ac.1512C>G (p.Gly504=)
12g.52487903G=CA2036520055KRT6Ac.1512C= (p.Gly504=)
12g.52487903G>TCA479852336KRT6Ac.1512C>A (p.Gly504=)
gnomAD v4
12g.52487904C>ACA384952814KRT6Ac.1511G>T (p.Gly504Val)
gnomAD v4
12g.52487904C=CA2036520056KRT6Ac.1511G= (p.Gly504=)
12g.52487904C>GCA384952815KRT6Ac.1511G>C (p.Gly504Ala)
12g.52487904C>TCA6581776KRT6Ac.1511G>A (p.Gly504Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487905dupCA217342KRT6Ac.1511dup (p.Ser505GlnfsTer?)
ClinVar dbSNP
12g.52487905C>ACA384952817KRT6Ac.1510G>T (p.Gly504Cys)
12g.52487905C=CA2036520057KRT6Ac.1510G= (p.Gly504=)
12g.52487905C>GCA384952818KRT6Ac.1510G>C (p.Gly504Arg)
12g.52487905C>TCA6581777KRT6Ac.1510G>A (p.Gly504Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52487906G>ACA6581778KRT6Ac.1509C>T (p.Val503=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52487906G>CCA479852337KRT6Ac.1509C>G (p.Val503=)
12g.52487906G=CA2036520058KRT6Ac.1509C= (p.Val503=)
12g.52487906G>TCA479852338KRT6Ac.1509C>A (p.Val503=)
gnomAD v4
12g.52487907A>CCA384952822KRT6Ac.1508T>G (p.Val503Gly)
12g.52487907A>GCA384952823KRT6Ac.1508T>C (p.Val503Ala)
12g.52487907A>TCA384952820KRT6Ac.1508T>A (p.Val503Asp)
12g.52487908C>ACA384952825KRT6Ac.1507G>T (p.Val503Phe)
12g.52487908C=CA2036520059KRT6Ac.1507G= (p.Val503=)
12g.52487908C>GCA384952829KRT6Ac.1507G>C (p.Val503Leu)
12g.52487908C>TCA384952827KRT6Ac.1507G>A (p.Val503Ile)
dbSNP gnomAD v2 gnomAD v4
12g.52487909A>CCA479852339KRT6Ac.1506T>G (p.Gly502=)
12g.52487909A>GCA479852341KRT6Ac.1506T>C (p.Gly502=)
12g.52487909A>TCA479852340KRT6Ac.1506T>A (p.Gly502=)
12g.52487910C>ACA384952830KRT6Ac.1505G>T (p.Gly502Val)
12g.52487910C>GCA384952831KRT6Ac.1505G>C (p.Gly502Ala)
12g.52487910C>TCA384952834KRT6Ac.1505G>A (p.Gly502Asp)
12g.52487911C>ACA384952836KRT6Ac.1504G>T (p.Gly502Cys)
gnomAD v4
12g.52487911C>GCA384952841KRT6Ac.1504G>C (p.Gly502Arg)
12g.52487911C>TCA384952843KRT6Ac.1504G>A (p.Gly502Ser)
12g.52487912A=CA2036520060KRT6Ac.1503T= (p.Ser501=)
12g.52487912A>CCA384952844KRT6Ac.1503T>G (p.Ser501Arg)
12g.52487912A>GCA6581779KRT6Ac.1503T>C (p.Ser501=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52487912A>TCA384952847KRT6Ac.1503T>A (p.Ser501Arg)
12g.52487913C>ACA384952848KRT6Ac.1502G>T (p.Ser501Ile)
12g.52487913C>GCA384952849KRT6Ac.1502G>C (p.Ser501Thr)
12g.52487913C>TCA384952853KRT6Ac.1502G>A (p.Ser501Asn)
gnomAD v4 COSMIC
12g.52487914T>ACA384952856KRT6Ac.1501A>T (p.Ser501Cys)
12g.52487914T>CCA384952862KRT6Ac.1501A>G (p.Ser501Gly)
12g.52487914T>GCA384952857KRT6Ac.1501A>C (p.Ser501Arg)
12g.52487915G>ACA479852342KRT6Ac.1500C>T (p.Ala500=)
gnomAD v4
12g.52487915G>CCA479852343KRT6Ac.1500C>G (p.Ala500=)
12g.52487915G>TCA479852344KRT6Ac.1500C>A (p.Ala500=)
12g.52487916G>ACA384952863KRT6Ac.1499C>T (p.Ala500Val)
12g.52487916G>CCA6581780KRT6Ac.1499C>G (p.Ala500Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487916G=CA2036520061KRT6Ac.1499C= (p.Ala500=)
12g.52487916G>TCA384952864KRT6Ac.1499C>A (p.Ala500Asp)
gnomAD v4 COSMIC
12g.52487917C>ACA384952866KRT6Ac.1498G>T (p.Ala500Ser)
12g.52487917C=CA2036520062KRT6Ac.1498G= (p.Ala500=)
12g.52487917C>GCA384952867KRT6Ac.1498G>C (p.Ala500Pro)
12g.52487917C>TCA384952868KRT6Ac.1498G>A (p.Ala500Thr)
dbSNP
12g.52487918A>CCA479852345KRT6Ac.1497T>G (p.Gly499=)
gnomAD v4
12g.52487918A>GCA479852346KRT6Ac.1497T>C (p.Gly499=)
12g.52487918A>TCA479852347KRT6Ac.1497T>A (p.Gly499=)
12g.52487919C>ACA384952869KRT6Ac.1496G>T (p.Gly499Val)
12g.52487919C=CA2036520063KRT6Ac.1496G= (p.Gly499=)
12g.52487919C>GCA384952870KRT6Ac.1496G>C (p.Gly499Ala)
12g.52487919C>TCA6581781KRT6Ac.1496G>A (p.Gly499Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487920C>ACA384952879KRT6Ac.1495G>T (p.Gly499Cys)
12g.52487920C=CA2036520064KRT6Ac.1495G= (p.Gly499=)
12g.52487920C>GCA384952881KRT6Ac.1495G>C (p.Gly499Arg)
gnomAD v4
12g.52487920C>TCA6581782KRT6Ac.1495G>A (p.Gly499Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52487921G>ACA6581783KRT6Ac.1494C>T (p.Gly498=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52487921G>CCA479852777KRT6Ac.1494C>G (p.Gly498=)
12g.52487921G=CA2036520065KRT6Ac.1494C= (p.Gly498=)
12g.52487921G>TCA6581784KRT6Ac.1494C>A (p.Gly498=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487922C>ACA384952887KRT6Ac.1493G>T (p.Gly498Val)
12g.52487922C>GCA384952888KRT6Ac.1493G>C (p.Gly498Ala)
12g.52487922C>TCA384952890KRT6Ac.1493G>A (p.Gly498Asp)
12g.52487923C>ACA384952892KRT6Ac.1492G>T (p.Gly498Cys)
gnomAD v4
12g.52487923C=CA2036520066KRT6Ac.1492G= (p.Gly498=)
12g.52487923C>GCA384952893KRT6Ac.1492G>C (p.Gly498Arg)
12g.52487923C>TCA384952899KRT6Ac.1492G>A (p.Gly498Ser)
dbSNP gnomAD v2 gnomAD v4
12g.52487924A=CA2036520067KRT6Ac.1491T= (p.Tyr497=)
12g.52487924A>CCA384952902KRT6Ac.1491T>G (p.Tyr497Ter)
12g.52487924A>GCA6581785KRT6Ac.1491T>C (p.Tyr497=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487924A>TCA384952907KRT6Ac.1491T>A (p.Tyr497Ter)
12g.52487925T>ACA6581786KRT6Ac.1490A>T (p.Tyr497Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487925T>CCA384952918KRT6Ac.1490A>G (p.Tyr497Cys)
12g.52487925T>GCA384952915KRT6Ac.1490A>C (p.Tyr497Ser)
12g.52487925T=CA2036520068KRT6Ac.1490A= (p.Tyr497=)
12g.52487926A>CCA384952922KRT6Ac.1489T>G (p.Tyr497Asp)
12g.52487926A>GCA384952924KRT6Ac.1489T>C (p.Tyr497His)
12g.52487926A>TCA384952926KRT6Ac.1489T>A (p.Tyr497Asn)
12g.52487927G>ACA479852799KRT6Ac.1488C>T (p.Gly496=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487927G>CCA479852801KRT6Ac.1488C>G (p.Gly496=)
12g.52487927G=CA2036520069KRT6Ac.1488C= (p.Gly496=)
12g.52487927G>TCA479852803KRT6Ac.1488C>A (p.Gly496=)
12g.52487928C>ACA384952928KRT6Ac.1487G>T (p.Gly496Val)
12g.52487928C>GCA384952929KRT6Ac.1487G>C (p.Gly496Ala)
12g.52487928C>TCA384952931KRT6Ac.1487G>A (p.Gly496Asp)
12g.52487929C>ACA384952949KRT6Ac.1486G>T (p.Gly496Cys)
12g.52487929C=CA2036520070KRT6Ac.1486G= (p.Gly496=)
12g.52487929C>GCA384952953KRT6Ac.1486G>C (p.Gly496Arg)
12g.52487929C>TCA384952950KRT6Ac.1486G>A (p.Gly496Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487930A>CCA384952955KRT6Ac.1485T>G (p.Ser495Arg)
12g.52487930A>GCA479852813KRT6Ac.1485T>C (p.Ser495=)
12g.52487930A>TCA384952956KRT6Ac.1485T>A (p.Ser495Arg)
12g.52487931C>ACA384952958KRT6Ac.1484G>T (p.Ser495Ile)
12g.52487931C=CA2036520071KRT6Ac.1484G= (p.Ser495=)
12g.52487931C>GCA384952959KRT6Ac.1484G>C (p.Ser495Thr)
12g.52487931C>TCA384952961KRT6Ac.1484G>A (p.Ser495Asn)
dbSNP gnomAD v4
12g.52487932T>ACA384952965KRT6Ac.1483A>T (p.Ser495Cys)
12g.52487932T>CCA237228575KRT6Ac.1483A>G (p.Ser495Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487932T>GCA384952962KRT6Ac.1483A>C (p.Ser495Arg)
12g.52487932T=CA2036520072KRT6Ac.1483A= (p.Ser495=)
12g.52487933G>ACA479852823KRT6Ac.1482C>T (p.Ser494=)
12g.52487933G>CCA479852825KRT6Ac.1482C>G (p.Ser494=)
12g.52487933G>TCA479852826KRT6Ac.1482C>A (p.Ser494=)
12g.52487934G>ACA384952969KRT6Ac.1481C>T (p.Ser494Phe)
gnomAD v4
12g.52487934G>CCA384952968KRT6Ac.1481C>G (p.Ser494Cys)
12g.52487934G=CA2036520073KRT6Ac.1481C= (p.Ser494=)
12g.52487934G>TCA384952972KRT6Ac.1481C>A (p.Ser494Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.52487935A>CCA384952979KRT6Ac.1480T>G (p.Ser494Ala)
12g.52487935A>GCA384952983KRT6Ac.1480T>C (p.Ser494Pro)
12g.52487935A>TCA384952980KRT6Ac.1480T>A (p.Ser494Thr)
12g.52487936G>ACA479852834KRT6Ac.1479C>T (p.Val493=)
12g.52487936G>CCA479852835KRT6Ac.1479C>G (p.Val493=)
12g.52487936G>TCA479852836KRT6Ac.1479C>A (p.Val493=)
COSMIC
12g.52487937A>CCA384952988KRT6Ac.1478T>G (p.Val493Gly)
12g.52487937A>GCA384952989KRT6Ac.1478T>C (p.Val493Ala)
12g.52487937A>TCA384952992KRT6Ac.1478T>A (p.Val493Asp)
12g.52487938C>ACA384952994KRT6Ac.1477G>T (p.Val493Phe)
12g.52487938C=CA2036520074KRT6Ac.1477G= (p.Val493=)
12g.52487938C>GCA384952995KRT6Ac.1477G>C (p.Val493Leu)
gnomAD v4
12g.52487938C>TCA6581787KRT6Ac.1477G>A (p.Val493Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52487938_52487941delinsCGGTCA2036520075KRT6Ac.1474_1477delinsACCG (p.Thr492=)
12g.52487939G>ACA6581788KRT6Ac.1476C>T (p.Thr492=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52487939G>CCA6581789KRT6Ac.1476C>G (p.Thr492=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487939G=CA2036520077KRT6Ac.1476C= (p.Thr492=)
12g.52487939G>TCA479852847KRT6Ac.1476C>A (p.Thr492=)
12g.52487941_52487943delCA2036520076KRT6Ac.1474_1476del (p.Thr492del)
dbSNP
12g.52487940G>ACA384952997KRT6Ac.1475C>T (p.Thr492Ile)
12g.52487940G>CCA237228582KRT6Ac.1475C>G (p.Thr492Ser)
dbSNP gnomAD v3 gnomAD v4
12g.52487940G=CA2036520078KRT6Ac.1475C= (p.Thr492=)
12g.52487940G>TCA384952999KRT6Ac.1475C>A (p.Thr492Asn)
12g.52487941T>ACA384953003KRT6Ac.1474A>T (p.Thr492Ser)
12g.52487941T>CCA6581790KRT6Ac.1474A>G (p.Thr492Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487941T>GCA384953002KRT6Ac.1474A>C (p.Thr492Pro)
12g.52487941T=CA2036520079KRT6Ac.1474A= (p.Thr492=)
12g.52487942G>ACA479852857KRT6Ac.1473C>T (p.Ser491=)
gnomAD v4
12g.52487942G>CCA479852859KRT6Ac.1473C>G (p.Ser491=)
12g.52487942G>TCA479852861KRT6Ac.1473C>A (p.Ser491=)
12g.52487943G>ACA384953005KRT6Ac.1472C>T (p.Ser491Phe)
gnomAD v4
12g.52487943G>CCA384953007KRT6Ac.1472C>G (p.Ser491Cys)
dbSNP
12g.52487943G=CA2036520080KRT6Ac.1472C= (p.Ser491=)
12g.52487943G>TCA384953011KRT6Ac.1472C>A (p.Ser491Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.52487944A>CCA384953013KRT6Ac.1471T>G (p.Ser491Ala)
12g.52487944A>GCA384953015KRT6Ac.1471T>C (p.Ser491Pro)
gnomAD v4
12g.52487944A>TCA384953017KRT6Ac.1471T>A (p.Ser491Thr)
12g.52487945C>ACA384953020KRT6Ac.1470G>T (p.Gln490His)
12g.52487945C>GCA384953022KRT6Ac.1470G>C (p.Gln490His)
12g.52487945C>TCA479852869KRT6Ac.1470G>A (p.Gln490=)
gnomAD v4
12g.52487946T>ACA384953031KRT6Ac.1469A>T (p.Gln490Leu)
12g.52487946T>CCA384953033KRT6Ac.1469A>G (p.Gln490Arg)
12g.52487946T>GCA384953034KRT6Ac.1469A>C (p.Gln490Pro)
12g.52487947G>ACA384953038KRT6Ac.1468C>T (p.Gln490Ter)
12g.52487947G>CCA384953039KRT6Ac.1468C>G (p.Gln490Glu)
12g.52487947G>TCA384953036KRT6Ac.1468C>A (p.Gln490Lys)
gnomAD v4
12g.52487948C>ACA479852878KRT6Ac.1467G>T (p.Val489=)
12g.52487948C=CA2036520081KRT6Ac.1467G= (p.Val489=)
12g.52487948C>GCA479852880KRT6Ac.1467G>C (p.Val489=)
12g.52487948C>TCA479852882KRT6Ac.1467G>A (p.Val489=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487951_52487953delCA912996272KRT6Ac.1465_1467del (p.Val489del)
12g.52487949A>CCA384953041KRT6Ac.1466T>G (p.Val489Gly)
12g.52487949A>GCA384953043KRT6Ac.1466T>C (p.Val489Ala)
12g.52487949A>TCA384953044KRT6Ac.1466T>A (p.Val489Glu)
12g.52487950C>ACA384953046KRT6Ac.1465G>T (p.Val489Leu)
12g.52487950C=CA2036520082KRT6Ac.1465G= (p.Val489=)
12g.52487950C>GCA384953048KRT6Ac.1465G>C (p.Val489Leu)
gnomAD v4
12g.52487950C>TCA6581791KRT6Ac.1465G>A (p.Val489Met)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52487951C>ACA479852891KRT6Ac.1464G>T (p.Val488=)
12g.52487951C=CA2036520083KRT6Ac.1464G= (p.Val488=)
12g.52487951C>GCA479852892KRT6Ac.1464G>C (p.Val488=)
12g.52487951C>TCA237228592KRT6Ac.1464G>A (p.Val488=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52487952A>CCA384953049KRT6Ac.1463T>G (p.Val488Gly)
12g.52487952A>GCA384953050KRT6Ac.1463T>C (p.Val488Ala)
gnomAD v4
12g.52487952A>TCA384953055KRT6Ac.1463T>A (p.Val488Glu)
12g.52487953C>ACA384953057KRT6Ac.1462G>T (p.Val488Leu)
12g.52487953C=CA2036520084KRT6Ac.1462G= (p.Val488=)
12g.52487953C>GCA384953059KRT6Ac.1462G>C (p.Val488Leu)
12g.52487953C>TCA384953061KRT6Ac.1462G>A (p.Val488Met)
dbSNP
12g.52487954A=CA2036520085KRT6Ac.1461T= (p.Ser487=)
12g.52487954A>CCA479852903KRT6Ac.1461T>G (p.Ser487=)
dbSNP
12g.52487954A>GCA479852905KRT6Ac.1461T>C (p.Ser487=)
dbSNP gnomAD v2 gnomAD v4
12g.52487954A>TCA479852907KRT6Ac.1461T>A (p.Ser487=)
dbSNP gnomAD v3 gnomAD v4
12g.52487955G>ACA384953066KRT6Ac.1460C>T (p.Ser487Phe)
12g.52487955G>CCA384953065KRT6Ac.1460C>G (p.Ser487Cys)
12g.52487955G>TCA384953064KRT6Ac.1460C>A (p.Ser487Tyr)
gnomAD v4
12g.52487955_52487958dupCA2695216893KRT6Ac.1460-3_1460dup
12g.52487956_52487958delCA2837994913KRT6Ac.1460-2_1460del
12g.52487956C>ACA384953067KRT6Ac.1460-1G>T (n.1460-1G>T)
12g.52487956C>GCA384953068KRT6Ac.1460-1G>C (n.1460-1G>C)
12g.52487956C>TCA384953069KRT6Ac.1460-1G>A (n.1460-1G>A)
12g.52487956_52488068delCA2795999518KRT6Ac.1459+1_1460-1del (n.1459+1_1460-1del)

Number of alleles fetched