Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52306038_52306047delinsTTGTTCTCTCCA2036432412KRT81,KRT86c.1027-22_1027-13delinsTTGTTCTCTC (n.1027-22_1027-13delinsTTGTTCTCTC)
c.1258-22_1258-13delinsTTGTTCTCTC (n.1258-22_1258-13delinsTTGTTCTCTC)
c.-212+2164_-212+2173delinsGAGAGAACAA (n.-212+2164_-212+2173delinsGAGAGAACAA)
12g.52306047_52306055delCA6577045KRT81,KRT86c.1027-13_1027-5del (n.1027-13_1027-5del)
c.1258-13_1258-5del (n.1258-13_1258-5del)
c.-212+2164_-212+2172del (n.-212+2164_-212+2172del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306047_52306048dupCA6577046KRT81,KRT86c.1027-13_1027-12dup (n.1027-13_1027-12dup)
c.1258-13_1258-12dup (n.1258-13_1258-12dup)
c.-212+2168_-212+2169dup (n.-212+2168_-212+2169dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306047_52306048delCA6577047KRT81,KRT86c.1027-13_1027-12del (n.1027-13_1027-12del)
c.1258-13_1258-12del (n.1258-13_1258-12del)
c.-212+2168_-212+2169del (n.-212+2168_-212+2169del)
 dbSNP ExAC gnomAD v2
12g.52306049G>CCA2618905852KRT81,KRT86c.1027-11G>C (n.1027-11G>C)
c.1258-11G>C (n.1258-11G>C)
c.-212+2162C>G (n.-212+2162C>G)
 gnomAD v4
12g.52306049G=CA2036432418KRT81,KRT86c.1027-11G= (n.1027-11G=)
c.1258-11G= (n.1258-11G=)
c.-212+2162C= (n.-212+2162C=)
12g.52306049G>TCA237206291KRT81,KRT86c.1027-11G>T (n.1027-11G>T)
c.1258-11G>T (n.1258-11G>T)
c.-212+2162C>A (n.-212+2162C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306052C>ACA2036432420KRT81,KRT86c.1027-8C>A (n.1027-8C>A)
c.1258-8C>A (n.1258-8C>A)
c.-212+2159G>T (n.-212+2159G>T)
 dbSNP
12g.52306052C=CA2036432419KRT81,KRT86c.1027-8C= (n.1027-8C=)
c.1258-8C= (n.1258-8C=)
c.-212+2159G= (n.-212+2159G=)
12g.52306052C>GCA2036432421KRT81,KRT86c.1027-8C>G (n.1027-8C>G)
c.1258-8C>G (n.1258-8C>G)
c.-212+2159G>C (n.-212+2159G>C)
 dbSNP gnomAD v4
12g.52306052C>TCA2618905854KRT81,KRT86c.1027-8C>T (n.1027-8C>T)
c.1258-8C>T (n.1258-8C>T)
c.-212+2159G>A (n.-212+2159G>A)
 gnomAD v4
12g.52306053T>CCA2618905855KRT81,KRT86c.1027-7T>C (n.1027-7T>C)
c.1258-7T>C (n.1258-7T>C)
c.-212+2158A>G (n.-212+2158A>G)
 gnomAD v4
12g.52306054C>TCA2575163451KRT81,KRT86c.1027-6C>T (n.1027-6C>T)
c.1258-6C>T (n.1258-6C>T)
c.-212+2157G>A (n.-212+2157G>A)
12g.52306058A=CA2036432422KRT81,KRT86c.1027-2A= (n.1027-2A=)
c.1258-2A= (n.1258-2A=)
c.-212+2153T= (n.-212+2153T=)
12g.52306058A>CCA384918838KRT81,KRT86c.1027-2A>C (n.1027-2A>C)
c.1258-2A>C (n.1258-2A>C)
c.-212+2153T>G (n.-212+2153T>G)
12g.52306058A>GCA6577049KRT81,KRT86c.1027-2A>G (n.1027-2A>G)
c.1258-2A>G (n.1258-2A>G)
c.-212+2153T>C (n.-212+2153T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52306058A>TCA384918839KRT81,KRT86c.1027-2A>T (n.1027-2A>T)
c.1258-2A>T (n.1258-2A>T)
c.-212+2153T>A (n.-212+2153T>A)
12g.52306059G>ACA384918840KRT81,KRT86c.1027-1G>A (n.1027-1G>A)
c.1258-1G>A (n.1258-1G>A)
c.-212+2152C>T (n.-212+2152C>T)
12g.52306059G>CCA384918841KRT81,KRT86c.1027-1G>C (n.1027-1G>C)
c.1258-1G>C (n.1258-1G>C)
c.-212+2152C>G (n.-212+2152C>G)
 COSMIC
12g.52306059G>TCA384918842KRT81,KRT86c.1027-1G>T (n.1027-1G>T)
c.1258-1G>T (n.1258-1G>T)
c.-212+2152C>A (n.-212+2152C>A)
12g.52306059_52306063dupCA2618905858KRT81,KRT86c.1027-1_1030dup
c.1258-1_1261dup
c.-212+2148_-212+2152dup (n.-212+2148_-212+2152dup)
 gnomAD v4
12g.52306060A>CCA384918843KRT81,KRT86c.1027A>C (p.Asn343His)
c.1258A>C (p.Asn420His)
c.-212+2151T>G (n.-212+2151T>G)
12g.52306060A>GCA384918844KRT81,KRT86c.1027A>G (p.Asn343Asp)
c.1258A>G (p.Asn420Asp)
c.-212+2151T>C (n.-212+2151T>C)
12g.52306060A>TCA384918845KRT81,KRT86c.1027A>T (p.Asn343Tyr)
c.1258A>T (p.Asn420Tyr)
c.-212+2151T>A (n.-212+2151T>A)
12g.52306061A>CCA384918846KRT81,KRT86c.1028A>C (p.Asn343Thr)
c.1259A>C (p.Asn420Thr)
c.-212+2150T>G (n.-212+2150T>G)
12g.52306061A>GCA384918848KRT81,KRT86c.1028A>G (p.Asn343Ser)
c.1259A>G (p.Asn420Ser)
c.-212+2150T>C (n.-212+2150T>C)
12g.52306061A>TCA384918847KRT81,KRT86c.1028A>T (p.Asn343Ile)
c.1259A>T (p.Asn420Ile)
c.-212+2150T>A (n.-212+2150T>A)
12g.52306062T>ACA384918849KRT81,KRT86c.1029T>A (p.Asn343Lys)
c.1260T>A (p.Asn420Lys)
c.-212+2149A>T (n.-212+2149A>T)
12g.52306062T>CCA6577050KRT81,KRT86c.1029T>C (p.Asn343=)
c.1260T>C (p.Asn420=)
c.-212+2149A>G (n.-212+2149A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306062T>GCA384918850KRT81,KRT86c.1029T>G (p.Asn343Lys)
c.1260T>G (p.Asn420Lys)
c.-212+2149A>C (n.-212+2149A>C)
12g.52306062T=CA2036432423KRT81,KRT86c.1029T= (p.Asn343=)
c.1260T= (p.Asn420=)
c.-212+2149A= (n.-212+2149A=)
12g.52306063T>ACA384918851KRT81,KRT86c.1030T>A (p.Ser344Thr)
c.1261T>A (p.Ser421Thr)
c.-212+2148A>T (n.-212+2148A>T)
12g.52306063T>CCA384918852KRT81,KRT86c.1030T>C (p.Ser344Pro)
c.1261T>C (p.Ser421Pro)
c.-212+2148A>G (n.-212+2148A>G)
12g.52306063T>GCA384918853KRT81,KRT86c.1030T>G (p.Ser344Ala)
c.1261T>G (p.Ser421Ala)
c.-212+2148A>C (n.-212+2148A>C)
12g.52306064C>ACA384918854KRT81,KRT86c.1031C>A (p.Ser344Tyr)
c.1262C>A (p.Ser421Tyr)
c.-212+2147G>T (n.-212+2147G>T)
12g.52306064C=CA2036432424KRT81,KRT86c.1031C= (p.Ser344=)
c.1262C= (p.Ser421=)
c.-212+2147G= (n.-212+2147G=)
12g.52306064C>GCA384918855KRT81,KRT86c.1031C>G (p.Ser344Cys)
c.1262C>G (p.Ser421Cys)
c.-212+2147G>C (n.-212+2147G>C)
12g.52306064C>TCA384918856KRT81,KRT86c.1031C>T (p.Ser344Phe)
c.1262C>T (p.Ser421Phe)
c.-212+2147G>A (n.-212+2147G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.52306065C>ACA480065417KRT81,KRT86c.1032C>A (p.Ser344=)
c.1263C>A (p.Ser421=)
c.-212+2146G>T (n.-212+2146G>T)
12g.52306065C>GCA480065418KRT81,KRT86c.1032C>G (p.Ser344=)
c.1263C>G (p.Ser421=)
c.-212+2146G>C (n.-212+2146G>C)
12g.52306065C>TCA480065419KRT81,KRT86c.1032C>T (p.Ser344=)
c.1263C>T (p.Ser421=)
c.-212+2146G>A (n.-212+2146G>A)
12g.52306066A=CA2036432425KRT81,KRT86c.1033A= (p.Lys345=)
c.1264A= (p.Lys422=)
c.-212+2145T= (n.-212+2145T=)
12g.52306066A>CCA384918857KRT81,KRT86c.1033A>C (p.Lys345Gln)
c.1264A>C (p.Lys422Gln)
c.-212+2145T>G (n.-212+2145T>G)
 gnomAD v4
12g.52306066A>GCA384918858KRT81,KRT86c.1033A>G (p.Lys345Glu)
c.1264A>G (p.Lys422Glu)
c.-212+2145T>C (n.-212+2145T>C)
12g.52306066A>TCA6577051KRT81,KRT86c.1033A>T (p.Lys345Ter)
c.1264A>T (p.Lys422Ter)
c.-212+2145T>A (n.-212+2145T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306067A=CA2036432426KRT81,KRT86c.1034A= (p.Lys345=)
c.1265A= (p.Lys422=)
c.-212+2144T= (n.-212+2144T=)
12g.52306067A>CCA384918859KRT81,KRT86c.1034A>C (p.Lys345Thr)
c.1265A>C (p.Lys422Thr)
c.-212+2144T>G (n.-212+2144T>G)
12g.52306067A>GCA6577052KRT81,KRT86c.1034A>G (p.Lys345Arg)
c.1265A>G (p.Lys422Arg)
c.-212+2144T>C (n.-212+2144T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306067A>TCA6577053KRT81,KRT86c.1034A>T (p.Lys345Met)
c.1265A>T (p.Lys422Met)
c.-212+2144T>A (n.-212+2144T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306068G>ACA480065420KRT81,KRT86c.1035G>A (p.Lys345=)
c.1266G>A (p.Lys422=)
c.-212+2143C>T (n.-212+2143C>T)
12g.52306068G>CCA384918861KRT81,KRT86c.1035G>C (p.Lys345Asn)
c.1266G>C (p.Lys422Asn)
c.-212+2143C>G (n.-212+2143C>G)
12g.52306068G>TCA384918860KRT81,KRT86c.1035G>T (p.Lys345Asn)
c.1266G>T (p.Lys422Asn)
c.-212+2143C>A (n.-212+2143C>A)
12g.52306069C>ACA384918862KRT81,KRT86c.1036C>A (p.Leu346Met)
c.1267C>A (p.Leu423Met)
c.-212+2142G>T (n.-212+2142G>T)
12g.52306069C=CA2036432427KRT81,KRT86c.1036C= (p.Leu346=)
c.1267C= (p.Leu423=)
c.-212+2142G= (n.-212+2142G=)
12g.52306069C>GCA384918863KRT81,KRT86c.1036C>G (p.Leu346Val)
c.1267C>G (p.Leu423Val)
c.-212+2142G>C (n.-212+2142G>C)
12g.52306069C>TCA6577054KRT81,KRT86c.1036C>T (p.Leu346=)
c.1267C>T (p.Leu423=)
c.-212+2142G>A (n.-212+2142G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306070T>ACA384918864KRT81,KRT86c.1037T>A (p.Leu346Gln)
c.1268T>A (p.Leu423Gln)
c.-212+2141A>T (n.-212+2141A>T)
12g.52306070T>CCA384918865KRT81,KRT86c.1037T>C (p.Leu346Pro)
c.1268T>C (p.Leu423Pro)
c.-212+2141A>G (n.-212+2141A>G)
12g.52306070T>GCA384918866KRT81,KRT86c.1037T>G (p.Leu346Arg)
c.1268T>G (p.Leu423Arg)
c.-212+2141A>C (n.-212+2141A>C)
12g.52306071G>ACA480065421KRT81,KRT86c.1038G>A (p.Leu346=)
c.1269G>A (p.Leu423=)
c.-212+2140C>T (n.-212+2140C>T)
12g.52306071G>CCA480065422KRT81,KRT86c.1038G>C (p.Leu346=)
c.1269G>C (p.Leu423=)
c.-212+2140C>G (n.-212+2140C>G)
12g.52306071G>TCA480065423KRT81,KRT86c.1038G>T (p.Leu346=)
c.1269G>T (p.Leu423=)
c.-212+2140C>A (n.-212+2140C>A)
12g.52306072G>ACA6577055KRT81,KRT86c.1039G>A (p.Glu347Lys)
c.1270G>A (p.Glu424Lys)
c.-212+2139C>T (n.-212+2139C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306072G>CCA384918867KRT81,KRT86c.1039G>C (p.Glu347Gln)
c.1270G>C (p.Glu424Gln)
c.-212+2139C>G (n.-212+2139C>G)
12g.52306072G=CA2036432428KRT81,KRT86c.1039G= (p.Glu347=)
c.1270G= (p.Glu424=)
c.-212+2139C= (n.-212+2139C=)
12g.52306072G>TCA384918868KRT81,KRT86c.1039G>T (p.Glu347Ter)
c.1270G>T (p.Glu424Ter)
c.-212+2139C>A (n.-212+2139C>A)
12g.52306073A>CCA384918869KRT81,KRT86c.1040A>C (p.Glu347Ala)
c.1271A>C (p.Glu424Ala)
c.-212+2138T>G (n.-212+2138T>G)
12g.52306073A>GCA384918870KRT81,KRT86c.1040A>G (p.Glu347Gly)
c.1271A>G (p.Glu424Gly)
c.-212+2138T>C (n.-212+2138T>C)
12g.52306073A>TCA384918871KRT81,KRT86c.1040A>T (p.Glu347Val)
c.1271A>T (p.Glu424Val)
c.-212+2138T>A (n.-212+2138T>A)
12g.52306074G>ACA480065424KRT81,KRT86c.1041G>A (p.Glu347=)
c.1272G>A (p.Glu424=)
c.-212+2137C>T (n.-212+2137C>T)
12g.52306074G>CCA384918873KRT81,KRT86c.1041G>C (p.Glu347Asp)
c.1272G>C (p.Glu424Asp)
c.-212+2137C>G (n.-212+2137C>G)
12g.52306074G>TCA384918872KRT81,KRT86c.1041G>T (p.Glu347Asp)
c.1272G>T (p.Glu424Asp)
c.-212+2137C>A (n.-212+2137C>A)
12g.52306075G>ACA384918874KRT81,KRT86c.1042G>A (p.Ala348Thr)
c.1273G>A (p.Ala425Thr)
c.-212+2136C>T (n.-212+2136C>T)
 COSMIC
12g.52306075G>CCA384918876KRT81,KRT86c.1042G>C (p.Ala348Pro)
c.1273G>C (p.Ala425Pro)
c.-212+2136C>G (n.-212+2136C>G)
12g.52306075G>TCA384918875KRT81,KRT86c.1042G>T (p.Ala348Ser)
c.1273G>T (p.Ala425Ser)
c.-212+2136C>A (n.-212+2136C>A)
12g.52306076C>ACA384918877KRT81,KRT86c.1043C>A (p.Ala348Asp)
c.1274C>A (p.Ala425Asp)
c.-212+2135G>T (n.-212+2135G>T)
12g.52306076C>GCA384918878KRT81,KRT86c.1043C>G (p.Ala348Gly)
c.1274C>G (p.Ala425Gly)
c.-212+2135G>C (n.-212+2135G>C)
12g.52306076C>TCA384918879KRT81,KRT86c.1043C>T (p.Ala348Val)
c.1274C>T (p.Ala425Val)
c.-212+2135G>A (n.-212+2135G>A)
12g.52306077T>ACA480065425KRT81,KRT86c.1044T>A (p.Ala348=)
c.1275T>A (p.Ala425=)
c.-212+2134A>T (n.-212+2134A>T)
12g.52306077T>CCA6577056KRT81,KRT86c.1044T>C (p.Ala348=)
c.1275T>C (p.Ala425=)
c.-212+2134A>G (n.-212+2134A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306077T>GCA480065426KRT81,KRT86c.1044T>G (p.Ala348=)
c.1275T>G (p.Ala425=)
c.-212+2134A>C (n.-212+2134A>C)
 dbSNP gnomAD v4
12g.52306077T=CA2036432429KRT81,KRT86c.1044T= (p.Ala348=)
c.1275T= (p.Ala425=)
c.-212+2134A= (n.-212+2134A=)
12g.52306078G>ACA384918880KRT81,KRT86c.1045G>A (p.Ala349Thr)
c.1276G>A (p.Ala426Thr)
c.-212+2133C>T (n.-212+2133C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306078G>CCA384918881KRT81,KRT86c.1045G>C (p.Ala349Pro)
c.1276G>C (p.Ala426Pro)
c.-212+2133C>G (n.-212+2133C>G)
12g.52306078G=CA2036432430KRT81,KRT86c.1045G= (p.Ala349=)
c.1276G= (p.Ala426=)
c.-212+2133C= (n.-212+2133C=)
12g.52306078G>TCA384918882KRT81,KRT86c.1045G>T (p.Ala349Ser)
c.1276G>T (p.Ala426Ser)
c.-212+2133C>A (n.-212+2133C>A)
12g.52306079C>ACA384918883KRT81,KRT86c.1046C>A (p.Ala349Glu)
c.1277C>A (p.Ala426Glu)
c.-212+2132G>T (n.-212+2132G>T)
12g.52306079C=CA2036432431KRT81,KRT86c.1046C= (p.Ala349=)
c.1277C= (p.Ala426=)
c.-212+2132G= (n.-212+2132G=)
12g.52306079C>GCA384918884KRT81,KRT86c.1046C>G (p.Ala349Gly)
c.1277C>G (p.Ala426Gly)
c.-212+2132G>C (n.-212+2132G>C)
12g.52306079C>TCA6577057KRT81,KRT86c.1046C>T (p.Ala349Val)
c.1277C>T (p.Ala426Val)
c.-212+2132G>A (n.-212+2132G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306080G>ACA6577058KRT81,KRT86c.1047G>A (p.Ala349=)
c.1278G>A (p.Ala426=)
c.-212+2131C>T (n.-212+2131C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306080G>CCA480065427KRT81,KRT86c.1047G>C (p.Ala349=)
c.1278G>C (p.Ala426=)
c.-212+2131C>G (n.-212+2131C>G)
12g.52306080G=CA2036432432KRT81,KRT86c.1047G= (p.Ala349=)
c.1278G= (p.Ala426=)
c.-212+2131C= (n.-212+2131C=)
12g.52306080G>TCA480065428KRT81,KRT86c.1047G>T (p.Ala349=)
c.1278G>T (p.Ala426=)
c.-212+2131C>A (n.-212+2131C>A)
 dbSNP
12g.52306082_52306084dupCA2575163452KRT81,KRT86c.1049_1051dup (p.Val350_Ala351insVal)
c.1280_1282dup (p.Val427_Ala428insVal)
c.-212+2129_-212+2131dup (n.-212+2129_-212+2131dup)
 gnomAD v4
12g.52306081G>ACA384918887KRT81,KRT86c.1048G>A (p.Val350Met)
c.1279G>A (p.Val427Met)
c.-212+2130C>T (n.-212+2130C>T)
12g.52306081G>CCA384918886KRT81,KRT86c.1048G>C (p.Val350Leu)
c.1279G>C (p.Val427Leu)
c.-212+2130C>G (n.-212+2130C>G)
12g.52306081G>TCA384918885KRT81,KRT86c.1048G>T (p.Val350Leu)
c.1279G>T (p.Val427Leu)
c.-212+2130C>A (n.-212+2130C>A)
12g.52306082T>ACA384918888KRT81,KRT86c.1049T>A (p.Val350Glu)
c.1280T>A (p.Val427Glu)
c.-212+2129A>T (n.-212+2129A>T)
12g.52306082T>CCA384918889KRT81,KRT86c.1049T>C (p.Val350Ala)
c.1280T>C (p.Val427Ala)
c.-212+2129A>G (n.-212+2129A>G)
12g.52306082T>GCA384918890KRT81,KRT86c.1049T>G (p.Val350Gly)
c.1280T>G (p.Val427Gly)
c.-212+2129A>C (n.-212+2129A>C)
12g.52306083G>ACA6577059KRT81,KRT86c.1050G>A (p.Val350=)
c.1281G>A (p.Val427=)
c.-212+2128C>T (n.-212+2128C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52306083G>CCA480065430KRT81,KRT86c.1050G>C (p.Val350=)
c.1281G>C (p.Val427=)
c.-212+2128C>G (n.-212+2128C>G)
12g.52306083G=CA2036432433KRT81,KRT86c.1050G= (p.Val350=)
c.1281G= (p.Val427=)
c.-212+2128C= (n.-212+2128C=)
12g.52306083G>TCA480065429KRT81,KRT86c.1050G>T (p.Val350=)
c.1281G>T (p.Val427=)
c.-212+2128C>A (n.-212+2128C>A)
12g.52306084G>ACA6577060KRT81,KRT86c.1051G>A (p.Ala351Thr)
c.1282G>A (p.Ala428Thr)
c.-212+2127C>T (n.-212+2127C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306084G>CCA384918891KRT81,KRT86c.1051G>C (p.Ala351Pro)
c.1282G>C (p.Ala428Pro)
c.-212+2127C>G (n.-212+2127C>G)
12g.52306084G=CA2036432434KRT81,KRT86c.1051G= (p.Ala351=)
c.1282G= (p.Ala428=)
c.-212+2127C= (n.-212+2127C=)
12g.52306084G>TCA384918892KRT81,KRT86c.1051G>T (p.Ala351Ser)
c.1282G>T (p.Ala428Ser)
c.-212+2127C>A (n.-212+2127C>A)
12g.52306085C>ACA384918893KRT81,KRT86c.1052C>A (p.Ala351Asp)
c.1283C>A (p.Ala428Asp)
c.-212+2126G>T (n.-212+2126G>T)
12g.52306085C>GCA384918894KRT81,KRT86c.1052C>G (p.Ala351Gly)
c.1283C>G (p.Ala428Gly)
c.-212+2126G>C (n.-212+2126G>C)
 gnomAD v4
12g.52306085C>TCA384918895KRT81,KRT86c.1052C>T (p.Ala351Val)
c.1283C>T (p.Ala428Val)
c.-212+2126G>A (n.-212+2126G>A)
12g.52306086T>ACA6577062KRT81,KRT86c.1053T>A (p.Ala351=)
c.1284T>A (p.Ala428=)
c.-212+2125A>T (n.-212+2125A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306086T>CCA6577061KRT81,KRT86c.1053T>C (p.Ala351=)
c.1284T>C (p.Ala428=)
c.-212+2125A>G (n.-212+2125A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306086T>GCA480065431KRT81,KRT86c.1053T>G (p.Ala351=)
c.1284T>G (p.Ala428=)
c.-212+2125A>C (n.-212+2125A>C)
12g.52306086T=CA2036432435KRT81,KRT86c.1053T= (p.Ala351=)
c.1284T= (p.Ala428=)
c.-212+2125A= (n.-212+2125A=)
12g.52306087C>ACA384918896KRT81,KRT86c.1054C>A (p.Gln352Lys)
c.1285C>A (p.Gln429Lys)
c.-212+2124G>T (n.-212+2124G>T)
12g.52306087C>GCA384918898KRT81,KRT86c.1054C>G (p.Gln352Glu)
c.1285C>G (p.Gln429Glu)
c.-212+2124G>C (n.-212+2124G>C)
 gnomAD v4
12g.52306087C>TCA384918897KRT81,KRT86c.1054C>T (p.Gln352Ter)
c.1285C>T (p.Gln429Ter)
c.-212+2124G>A (n.-212+2124G>A)
12g.52306088A>CCA384918899KRT81,KRT86c.1055A>C (p.Gln352Pro)
c.1286A>C (p.Gln429Pro)
c.-212+2123T>G (n.-212+2123T>G)
12g.52306088A>GCA384918901KRT81,KRT86c.1055A>G (p.Gln352Arg)
c.1286A>G (p.Gln429Arg)
c.-212+2123T>C (n.-212+2123T>C)
12g.52306088A>TCA384918900KRT81,KRT86c.1055A>T (p.Gln352Leu)
c.1286A>T (p.Gln429Leu)
c.-212+2123T>A (n.-212+2123T>A)
 gnomAD v4
12g.52306089G>ACA480065432KRT81,KRT86c.1056G>A (p.Gln352=)
c.1287G>A (p.Gln429=)
c.-212+2122C>T (n.-212+2122C>T)
 gnomAD v4
12g.52306089G>CCA384918902KRT81,KRT86c.1056G>C (p.Gln352His)
c.1287G>C (p.Gln429His)
c.-212+2122C>G (n.-212+2122C>G)
12g.52306089G>TCA384918903KRT81,KRT86c.1056G>T (p.Gln352His)
c.1287G>T (p.Gln429His)
c.-212+2122C>A (n.-212+2122C>A)
12g.52306090T>ACA384918904KRT81,KRT86c.1057T>A (p.Ser353Thr)
c.1288T>A (p.Ser430Thr)
c.-212+2121A>T (n.-212+2121A>T)
12g.52306090T>CCA384918906KRT81,KRT86c.1057T>C (p.Ser353Pro)
c.1288T>C (p.Ser430Pro)
c.-212+2121A>G (n.-212+2121A>G)
 gnomAD v4
12g.52306090T>GCA384918905KRT81,KRT86c.1057T>G (p.Ser353Ala)
c.1288T>G (p.Ser430Ala)
c.-212+2121A>C (n.-212+2121A>C)
12g.52306091C>ACA384918907KRT81,KRT86c.1058C>A (p.Ser353Tyr)
c.1289C>A (p.Ser430Tyr)
c.-212+2120G>T (n.-212+2120G>T)
12g.52306091C=CA2036432436KRT81,KRT86c.1058C= (p.Ser353=)
c.1289C= (p.Ser430=)
c.-212+2120G= (n.-212+2120G=)
12g.52306091C>GCA237206359KRT81,KRT86c.1058C>G (p.Ser353Cys)
c.1289C>G (p.Ser430Cys)
c.-212+2120G>C (n.-212+2120G>C)
 dbSNP
12g.52306091C>TCA384918908KRT81,KRT86c.1058C>T (p.Ser353Phe)
c.1289C>T (p.Ser430Phe)
c.-212+2120G>A (n.-212+2120G>A)
12g.52306092T>ACA480065436KRT81,KRT86c.1059T>A (p.Ser353=)
c.1290T>A (p.Ser430=)
c.-212+2119A>T (n.-212+2119A>T)
12g.52306092T>CCA480065433KRT81,KRT86c.1059T>C (p.Ser353=)
c.1290T>C (p.Ser430=)
c.-212+2119A>G (n.-212+2119A>G)
12g.52306092T>GCA480065434KRT81,KRT86c.1059T>G (p.Ser353=)
c.1290T>G (p.Ser430=)
c.-212+2119A>C (n.-212+2119A>C)
12g.52306093G>ACA384918909KRT81,KRT86c.1060G>A (p.Glu354Lys)
c.1291G>A (p.Glu431Lys)
c.-212+2118C>T (n.-212+2118C>T)
12g.52306093G>CCA384918910KRT81,KRT86c.1060G>C (p.Glu354Gln)
c.1291G>C (p.Glu431Gln)
c.-212+2118C>G (n.-212+2118C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.52306093G=CA2036432437KRT81,KRT86c.1060G= (p.Glu354=)
c.1291G= (p.Glu431=)
c.-212+2118C= (n.-212+2118C=)
12g.52306093G>TCA384918911KRT81,KRT86c.1060G>T (p.Glu354Ter)
c.1291G>T (p.Glu431Ter)
c.-212+2118C>A (n.-212+2118C>A)
12g.52306094A>CCA384918914KRT81,KRT86c.1061A>C (p.Glu354Ala)
c.1292A>C (p.Glu431Ala)
c.-212+2117T>G (n.-212+2117T>G)
12g.52306094A>GCA384918912KRT81,KRT86c.1061A>G (p.Glu354Gly)
c.1292A>G (p.Glu431Gly)
c.-212+2117T>C (n.-212+2117T>C)
12g.52306094A>TCA384918913KRT81,KRT86c.1061A>T (p.Glu354Val)
c.1292A>T (p.Glu431Val)
c.-212+2117T>A (n.-212+2117T>A)
12g.52306095G>ACA480065437KRT81,KRT86c.1062G>A (p.Glu354=)
c.1293G>A (p.Glu431=)
c.-212+2116C>T (n.-212+2116C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.52306095G>CCA384918915KRT81,KRT86c.1062G>C (p.Glu354Asp)
c.1293G>C (p.Glu431Asp)
c.-212+2116C>G (n.-212+2116C>G)
12g.52306095G=CA2036432438KRT81,KRT86c.1062G= (p.Glu354=)
c.1293G= (p.Glu431=)
c.-212+2116C= (n.-212+2116C=)
12g.52306095G>TCA6577063KRT81,KRT86c.1062G>T (p.Glu354Asp)
c.1293G>T (p.Glu431Asp)
c.-212+2116C>A (n.-212+2116C>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.52306096C>ACA384918916KRT81,KRT86c.1063C>A (p.Gln355Lys)
c.1294C>A (p.Gln432Lys)
c.-212+2115G>T (n.-212+2115G>T)
12g.52306096C>GCA384918917KRT81,KRT86c.1063C>G (p.Gln355Glu)
c.1294C>G (p.Gln432Glu)
c.-212+2115G>C (n.-212+2115G>C)
12g.52306096C>TCA384918918KRT81,KRT86c.1063C>T (p.Gln355Ter)
c.1294C>T (p.Gln432Ter)
c.-212+2115G>A (n.-212+2115G>A)
12g.52306097A>CCA384918921KRT81,KRT86c.1064A>C (p.Gln355Pro)
c.1295A>C (p.Gln432Pro)
c.-212+2114T>G (n.-212+2114T>G)
12g.52306097A>GCA384918919KRT81,KRT86c.1064A>G (p.Gln355Arg)
c.1295A>G (p.Gln432Arg)
c.-212+2114T>C (n.-212+2114T>C)
 gnomAD v4
12g.52306097A>TCA384918920KRT81,KRT86c.1064A>T (p.Gln355Leu)
c.1295A>T (p.Gln432Leu)
c.-212+2114T>A (n.-212+2114T>A)
12g.52306098G>ACA480065439KRT81,KRT86c.1065G>A (p.Gln355=)
c.1296G>A (p.Gln432=)
c.-212+2113C>T (n.-212+2113C>T)
 dbSNP gnomAD v2
12g.52306098G>CCA384918922KRT81,KRT86c.1065G>C (p.Gln355His)
c.1296G>C (p.Gln432His)
c.-212+2113C>G (n.-212+2113C>G)
12g.52306098G=CA2036432439KRT81,KRT86c.1065G= (p.Gln355=)
c.1296G= (p.Gln432=)
c.-212+2113C= (n.-212+2113C=)
12g.52306098G>TCA384918923KRT81,KRT86c.1065G>T (p.Gln355His)
c.1296G>T (p.Gln432His)
c.-212+2113C>A (n.-212+2113C>A)
12g.52306099C>ACA384918924KRT81,KRT86c.1066C>A (p.Gln356Lys)
c.1297C>A (p.Gln433Lys)
c.-212+2112G>T (n.-212+2112G>T)
 dbSNP
12g.52306099C=CA2036432440KRT81,KRT86c.1066C= (p.Gln356=)
c.1297C= (p.Gln433=)
c.-212+2112G= (n.-212+2112G=)
12g.52306099C>GCA6577065KRT81,KRT86c.1066C>G (p.Gln356Glu)
c.1297C>G (p.Gln433Glu)
c.-212+2112G>C (n.-212+2112G>C)
 dbSNP ExAC gnomAD v2
12g.52306099C>TCA6577064KRT81,KRT86c.1066C>T (p.Gln356Ter)
c.1297C>T (p.Gln433Ter)
c.-212+2112G>A (n.-212+2112G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306100A>CCA384918925KRT81,KRT86c.1067A>C (p.Gln356Pro)
c.1298A>C (p.Gln433Pro)
c.-212+2111T>G (n.-212+2111T>G)
12g.52306100A>GCA384918926KRT81,KRT86c.1067A>G (p.Gln356Arg)
c.1298A>G (p.Gln433Arg)
c.-212+2111T>C (n.-212+2111T>C)
12g.52306100A>TCA384918927KRT81,KRT86c.1067A>T (p.Gln356Leu)
c.1298A>T (p.Gln433Leu)
c.-212+2111T>A (n.-212+2111T>A)
12g.52306101G>ACA480065441KRT81,KRT86c.1068G>A (p.Gln356=)
c.1299G>A (p.Gln433=)
c.-212+2110C>T (n.-212+2110C>T)
12g.52306101G>CCA384918928KRT81,KRT86c.1068G>C (p.Gln356His)
c.1299G>C (p.Gln433His)
c.-212+2110C>G (n.-212+2110C>G)
12g.52306101G>TCA384918929KRT81,KRT86c.1068G>T (p.Gln356His)
c.1299G>T (p.Gln433His)
c.-212+2110C>A (n.-212+2110C>A)
12g.52306102G>ACA384918930KRT81,KRT86c.1069G>A (p.Gly357Ser)
c.1300G>A (p.Gly434Ser)
c.-212+2109C>T (n.-212+2109C>T)
12g.52306102G>CCA6577066KRT81,KRT86c.1069G>C (p.Gly357Arg)
c.1300G>C (p.Gly434Arg)
c.-212+2109C>G (n.-212+2109C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306102G=CA2036432441KRT81,KRT86c.1069G= (p.Gly357=)
c.1300G= (p.Gly434=)
c.-212+2109C= (n.-212+2109C=)
12g.52306102G>TCA384918931KRT81,KRT86c.1069G>T (p.Gly357Cys)
c.1300G>T (p.Gly434Cys)
c.-212+2109C>A (n.-212+2109C>A)
12g.52306103G>ACA384918932KRT81,KRT86c.1070G>A (p.Gly357Asp)
c.1301G>A (p.Gly434Asp)
c.-212+2108C>T (n.-212+2108C>T)
 dbSNP gnomAD v4
12g.52306103G>CCA384918934KRT81,KRT86c.1070G>C (p.Gly357Ala)
c.1301G>C (p.Gly434Ala)
c.-212+2108C>G (n.-212+2108C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.52306103G=CA2036432442KRT81,KRT86c.1070G= (p.Gly357=)
c.1301G= (p.Gly434=)
c.-212+2108C= (n.-212+2108C=)
12g.52306103G>TCA384918933KRT81,KRT86c.1070G>T (p.Gly357Val)
c.1301G>T (p.Gly434Val)
c.-212+2108C>A (n.-212+2108C>A)
12g.52306104T>ACA480065442KRT81,KRT86c.1071T>A (p.Gly357=)
c.1302T>A (p.Gly434=)
c.-212+2107A>T (n.-212+2107A>T)
12g.52306104T>CCA480065443KRT81,KRT86c.1071T>C (p.Gly357=)
c.1302T>C (p.Gly434=)
c.-212+2107A>G (n.-212+2107A>G)
12g.52306104T>GCA480065444KRT81,KRT86c.1071T>G (p.Gly357=)
c.1302T>G (p.Gly434=)
c.-212+2107A>C (n.-212+2107A>C)
12g.52306105G>ACA384918935KRT81,KRT86c.1072G>A (p.Glu358Lys)
c.1303G>A (p.Glu435Lys)
c.-212+2106C>T (n.-212+2106C>T)
12g.52306105G>CCA384918936KRT81,KRT86c.1072G>C (p.Glu358Gln)
c.1303G>C (p.Glu435Gln)
c.-212+2106C>G (n.-212+2106C>G)
12g.52306105G>TCA384918937KRT81,KRT86c.1072G>T (p.Glu358Ter)
c.1303G>T (p.Glu435Ter)
c.-212+2106C>A (n.-212+2106C>A)
12g.52306106A>CCA384918938KRT81,KRT86c.1073A>C (p.Glu358Ala)
c.1304A>C (p.Glu435Ala)
c.-212+2105T>G (n.-212+2105T>G)
12g.52306106A>GCA384918939KRT81,KRT86c.1073A>G (p.Glu358Gly)
c.1304A>G (p.Glu435Gly)
c.-212+2105T>C (n.-212+2105T>C)
12g.52306106A>TCA384918940KRT81,KRT86c.1073A>T (p.Glu358Val)
c.1304A>T (p.Glu435Val)
c.-212+2105T>A (n.-212+2105T>A)
12g.52306107G>ACA480065446KRT81,KRT86c.1074G>A (p.Glu358=)
c.1305G>A (p.Glu435=)
c.-212+2104C>T (n.-212+2104C>T)
 gnomAD v4
12g.52306107G>CCA384918941KRT81,KRT86c.1074G>C (p.Glu358Asp)
c.1305G>C (p.Glu435Asp)
c.-212+2104C>G (n.-212+2104C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.52306107G=CA2036432443KRT81,KRT86c.1074G= (p.Glu358=)
c.1305G= (p.Glu435=)
c.-212+2104C= (n.-212+2104C=)
12g.52306107G>TCA384918942KRT81,KRT86c.1074G>T (p.Glu358Asp)
c.1305G>T (p.Glu435Asp)
c.-212+2104C>A (n.-212+2104C>A)
12g.52306108G>ACA384918943KRT81,KRT86c.1075G>A (p.Ala359Thr)
c.1306G>A (p.Ala436Thr)
c.-212+2103C>T (n.-212+2103C>T)
12g.52306108G>CCA384918944KRT81,KRT86c.1075G>C (p.Ala359Pro)
c.1306G>C (p.Ala436Pro)
c.-212+2103C>G (n.-212+2103C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306108G=CA2036432444KRT81,KRT86c.1075G= (p.Ala359=)
c.1306G= (p.Ala436=)
c.-212+2103C= (n.-212+2103C=)
12g.52306108G>TCA384918945KRT81,KRT86c.1075G>T (p.Ala359Ser)
c.1306G>T (p.Ala436Ser)
c.-212+2103C>A (n.-212+2103C>A)
 gnomAD v4
12g.52306109C>ACA384918946KRT81,KRT86c.1076C>A (p.Ala359Glu)
c.1307C>A (p.Ala436Glu)
c.-212+2102G>T (n.-212+2102G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.52306109C=CA2036432445KRT81,KRT86c.1076C= (p.Ala359=)
c.1307C= (p.Ala436=)
c.-212+2102G= (n.-212+2102G=)
12g.52306109C>GCA384918947KRT81,KRT86c.1076C>G (p.Ala359Gly)
c.1307C>G (p.Ala436Gly)
c.-212+2102G>C (n.-212+2102G>C)
12g.52306109C>TCA6577067KRT81,KRT86c.1076C>T (p.Ala359Val)
c.1307C>T (p.Ala436Val)
c.-212+2102G>A (n.-212+2102G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52306110G>ACA6577068KRT81,KRT86c.1077G>A (p.Ala359=)
c.1308G>A (p.Ala436=)
c.-212+2101C>T (n.-212+2101C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306110G>CCA480065450KRT81,KRT86c.1077G>C (p.Ala359=)
c.1308G>C (p.Ala436=)
c.-212+2101C>G (n.-212+2101C>G)
12g.52306110G=CA2036432446KRT81,KRT86c.1077G= (p.Ala359=)
c.1308G= (p.Ala436=)
c.-212+2101C= (n.-212+2101C=)
12g.52306110G>TCA480065451KRT81,KRT86c.1077G>T (p.Ala359=)
c.1308G>T (p.Ala436=)
c.-212+2101C>A (n.-212+2101C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306111G>ACA384918948KRT81,KRT86c.1078G>A (p.Ala360Thr)
c.1309G>A (p.Ala437Thr)
c.-212+2100C>T (n.-212+2100C>T)
12g.52306111G>CCA384918949KRT81,KRT86c.1078G>C (p.Ala360Pro)
c.1309G>C (p.Ala437Pro)
c.-212+2100C>G (n.-212+2100C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.52306111G=CA2036432447KRT81,KRT86c.1078G= (p.Ala360=)
c.1309G= (p.Ala437=)
c.-212+2100C= (n.-212+2100C=)
12g.52306111G>TCA384918950KRT81,KRT86c.1078G>T (p.Ala360Ser)
c.1309G>T (p.Ala437Ser)
c.-212+2100C>A (n.-212+2100C>A)
12g.52306112C>ACA384918951KRT81,KRT86c.1079C>A (p.Ala360Asp)
c.1310C>A (p.Ala437Asp)
c.-212+2099G>T (n.-212+2099G>T)
12g.52306112C=CA2036432448KRT81,KRT86c.1079C= (p.Ala360=)
c.1310C= (p.Ala437=)
c.-212+2099G= (n.-212+2099G=)
12g.52306112C>GCA384918952KRT81,KRT86c.1079C>G (p.Ala360Gly)
c.1310C>G (p.Ala437Gly)
c.-212+2099G>C (n.-212+2099G>C)
12g.52306112C>TCA6577069KRT81,KRT86c.1079C>T (p.Ala360Val)
c.1310C>T (p.Ala437Val)
c.-212+2099G>A (n.-212+2099G>A)
 dbSNP ExAC gnomAD v2
12g.52306114delCA2618905941KRT81,KRT86c.1081del (p.Leu361SerfsTer25)
c.1312del (p.Leu438SerfsTer25)
c.-212+2099del (n.-212+2099del)
 gnomAD v4
12g.52306113C>ACA480065456KRT81,KRT86c.1080C>A (p.Ala360=)
c.1311C>A (p.Ala437=)
c.-212+2098G>T (n.-212+2098G>T)
12g.52306113C=CA2036432449KRT81,KRT86c.1080C= (p.Ala360=)
c.1311C= (p.Ala437=)
c.-212+2098G= (n.-212+2098G=)
12g.52306113C>GCA480065455KRT81,KRT86c.1080C>G (p.Ala360=)
c.1311C>G (p.Ala437=)
c.-212+2098G>C (n.-212+2098G>C)
12g.52306113C>TCA480065454KRT81,KRT86c.1080C>T (p.Ala360=)
c.1311C>T (p.Ala437=)
c.-212+2098G>A (n.-212+2098G>A)
 dbSNP gnomAD v4
12g.52306114C>ACA384918953KRT81,KRT86c.1081C>A (p.Leu361Ile)
c.1312C>A (p.Leu438Ile)
c.-212+2097G>T (n.-212+2097G>T)
12g.52306114C=CA2036432450KRT81,KRT86c.1081C= (p.Leu361=)
c.1312C= (p.Leu438=)
c.-212+2097G= (n.-212+2097G=)
12g.52306114C>GCA6577070KRT81,KRT86c.1081C>G (p.Leu361Val)
c.1312C>G (p.Leu438Val)
c.-212+2097G>C (n.-212+2097G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306114C>TCA384918954KRT81,KRT86c.1081C>T (p.Leu361Phe)
c.1312C>T (p.Leu438Phe)
c.-212+2097G>A (n.-212+2097G>A)
 gnomAD v4
12g.52306115T>ACA384918955KRT81,KRT86c.1082T>A (p.Leu361His)
c.1313T>A (p.Leu438His)
c.-212+2096A>T (n.-212+2096A>T)
12g.52306115T>CCA384918956KRT81,KRT86c.1082T>C (p.Leu361Pro)
c.1313T>C (p.Leu438Pro)
c.-212+2096A>G (n.-212+2096A>G)
 dbSNP
12g.52306115T>GCA384918957KRT81,KRT86c.1082T>G (p.Leu361Arg)
c.1313T>G (p.Leu438Arg)
c.-212+2096A>C (n.-212+2096A>C)
12g.52306115T=CA2036432451KRT81,KRT86c.1082T= (p.Leu361=)
c.1313T= (p.Leu438=)
c.-212+2096A= (n.-212+2096A=)
12g.52306116C>ACA480065460KRT81,KRT86c.1083C>A (p.Leu361=)
c.1314C>A (p.Leu438=)
c.-212+2095G>T (n.-212+2095G>T)
 dbSNP
12g.52306116C>GCA480065461KRT81,KRT86c.1083C>G (p.Leu361=)
c.1314C>G (p.Leu438=)
c.-212+2095G>C (n.-212+2095G>C)
12g.52306116C>TCA480065462KRT81,KRT86c.1083C>T (p.Leu361=)
c.1314C>T (p.Leu438=)
c.-212+2095G>A (n.-212+2095G>A)
12g.52306117A=CA2036432452KRT81,KRT86c.1084A= (p.Ser362=)
c.1315A= (p.Ser439=)
c.-212+2094T= (n.-212+2094T=)
12g.52306117A>CCA384918958KRT81,KRT86c.1084A>C (p.Ser362Arg)
c.1315A>C (p.Ser439Arg)
c.-212+2094T>G (n.-212+2094T>G)
12g.52306117A>GCA384918960KRT81,KRT86c.1084A>G (p.Ser362Gly)
c.1315A>G (p.Ser439Gly)
c.-212+2094T>C (n.-212+2094T>C)
12g.52306117A>TCA384918959KRT81,KRT86c.1084A>T (p.Ser362Cys)
c.1315A>T (p.Ser439Cys)
c.-212+2094T>A (n.-212+2094T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306118G>ACA384918961KRT81,KRT86c.1085G>A (p.Ser362Asn)
c.1316G>A (p.Ser439Asn)
c.-212+2093C>T (n.-212+2093C>T)
12g.52306118G>CCA384918963KRT81,KRT86c.1085G>C (p.Ser362Thr)
c.1316G>C (p.Ser439Thr)
c.-212+2093C>G (n.-212+2093C>G)
 dbSNP
12g.52306118G=CA2036432453KRT81,KRT86c.1085G= (p.Ser362=)
c.1316G= (p.Ser439=)
c.-212+2093C= (n.-212+2093C=)
12g.52306118G>TCA384918962KRT81,KRT86c.1085G>T (p.Ser362Ile)
c.1316G>T (p.Ser439Ile)
c.-212+2093C>A (n.-212+2093C>A)
 COSMIC
12g.52306119C>ACA384918964KRT81,KRT86c.1086C>A (p.Ser362Arg)
c.1317C>A (p.Ser439Arg)
c.-212+2092G>T (n.-212+2092G>T)
 dbSNP
12g.52306119C=CA2036432454KRT81,KRT86c.1086C= (p.Ser362=)
c.1317C= (p.Ser439=)
c.-212+2092G= (n.-212+2092G=)
12g.52306119C>GCA384918965KRT81,KRT86c.1086C>G (p.Ser362Arg)
c.1317C>G (p.Ser439Arg)
c.-212+2092G>C (n.-212+2092G>C)
12g.52306119C>TCA6577071KRT81,KRT86c.1086C>T (p.Ser362=)
c.1317C>T (p.Ser439=)
c.-212+2092G>A (n.-212+2092G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306120G>ACA6577072KRT81,KRT86c.1087G>A (p.Asp363Asn)
c.1318G>A (p.Asp440Asn)
c.-212+2091C>T (n.-212+2091C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306120G>CCA384918966KRT81,KRT86c.1087G>C (p.Asp363His)
c.1318G>C (p.Asp440His)
c.-212+2091C>G (n.-212+2091C>G)
 gnomAD v4
12g.52306120G=CA2036432455KRT81,KRT86c.1087G= (p.Asp363=)
c.1318G= (p.Asp440=)
c.-212+2091C= (n.-212+2091C=)
12g.52306120G>TCA384918967KRT81,KRT86c.1087G>T (p.Asp363Tyr)
c.1318G>T (p.Asp440Tyr)
c.-212+2091C>A (n.-212+2091C>A)
12g.52306121A>CCA384918968KRT81,KRT86c.1088A>C (p.Asp363Ala)
c.1319A>C (p.Asp440Ala)
c.-212+2090T>G (n.-212+2090T>G)
12g.52306121A>GCA384918969KRT81,KRT86c.1088A>G (p.Asp363Gly)
c.1319A>G (p.Asp440Gly)
c.-212+2090T>C (n.-212+2090T>C)
12g.52306121A>TCA384918970KRT81,KRT86c.1088A>T (p.Asp363Val)
c.1319A>T (p.Asp440Val)
c.-212+2090T>A (n.-212+2090T>A)
12g.52306122T>ACA384918971KRT81,KRT86c.1089T>A (p.Asp363Glu)
c.1320T>A (p.Asp440Glu)
c.-212+2089A>T (n.-212+2089A>T)
12g.52306122T>CCA237206398KRT81,KRT86c.1089T>C (p.Asp363=)
c.1320T>C (p.Asp440=)
c.-212+2089A>G (n.-212+2089A>G)
 dbSNP gnomAD v4
12g.52306122T>GCA384918972KRT81,KRT86c.1089T>G (p.Asp363Glu)
c.1320T>G (p.Asp440Glu)
c.-212+2089A>C (n.-212+2089A>C)
12g.52306122T=CA2036432456KRT81,KRT86c.1089T= (p.Asp363=)
c.1320T= (p.Asp440=)
c.-212+2089A= (n.-212+2089A=)
12g.52306123G>ACA384918973KRT81,KRT86c.1090G>A (p.Ala364Thr)
c.1321G>A (p.Ala441Thr)
c.-212+2088C>T (n.-212+2088C>T)
 dbSNP gnomAD v4
12g.52306123G>CCA384918975KRT81,KRT86c.1090G>C (p.Ala364Pro)
c.1321G>C (p.Ala441Pro)
c.-212+2088C>G (n.-212+2088C>G)
12g.52306123G=CA2036432457KRT81,KRT86c.1090G= (p.Ala364=)
c.1321G= (p.Ala441=)
c.-212+2088C= (n.-212+2088C=)
12g.52306123G>TCA384918974KRT81,KRT86c.1090G>T (p.Ala364Ser)
c.1321G>T (p.Ala441Ser)
c.-212+2088C>A (n.-212+2088C>A)
12g.52306124C>ACA6577073KRT81,KRT86c.1091C>A (p.Ala364Asp)
c.1322C>A (p.Ala441Asp)
c.-212+2087G>T (n.-212+2087G>T)
 dbSNP ExAC gnomAD v4
12g.52306124C=CA2036432458KRT81,KRT86c.1091C= (p.Ala364=)
c.1322C= (p.Ala441=)
c.-212+2087G= (n.-212+2087G=)
12g.52306124C>GCA384918976KRT81,KRT86c.1091C>G (p.Ala364Gly)
c.1322C>G (p.Ala441Gly)
c.-212+2087G>C (n.-212+2087G>C)
 gnomAD v4
12g.52306124C>TCA384918977KRT81,KRT86c.1091C>T (p.Ala364Val)
c.1322C>T (p.Ala441Val)
c.-212+2087G>A (n.-212+2087G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306125C>ACA480065467KRT81,KRT86c.1092C>A (p.Ala364=)
c.1323C>A (p.Ala441=)
c.-212+2086G>T (n.-212+2086G>T)
12g.52306125C>GCA480065469KRT81,KRT86c.1092C>G (p.Ala364=)
c.1323C>G (p.Ala441=)
c.-212+2086G>C (n.-212+2086G>C)
12g.52306125C>TCA480065468KRT81,KRT86c.1092C>T (p.Ala364=)
c.1323C>T (p.Ala441=)
c.-212+2086G>A (n.-212+2086G>A)
 gnomAD v4
12g.52306126C>ACA384918978KRT81,KRT86c.1093C>A (p.Arg365Ser)
c.1324C>A (p.Arg442Ser)
c.-212+2085G>T (n.-212+2085G>T)
12g.52306126C=CA2036432459KRT81,KRT86c.1093C= (p.Arg365=)
c.1324C= (p.Arg442=)
c.-212+2085G= (n.-212+2085G=)
12g.52306126C>GCA384918979KRT81,KRT86c.1093C>G (p.Arg365Gly)
c.1324C>G (p.Arg442Gly)
c.-212+2085G>C (n.-212+2085G>C)
12g.52306126C>TCA6577074KRT81,KRT86c.1093C>T (p.Arg365Cys)
c.1324C>T (p.Arg442Cys)
c.-212+2085G>A (n.-212+2085G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306127G>ACA6577075KRT81,KRT86c.1094G>A (p.Arg365His)
c.1325G>A (p.Arg442His)
c.-212+2084C>T (n.-212+2084C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306127G>CCA384918980KRT81,KRT86c.1094G>C (p.Arg365Pro)
c.1325G>C (p.Arg442Pro)
c.-212+2084C>G (n.-212+2084C>G)
 gnomAD v4
12g.52306127G=CA2036432460KRT81,KRT86c.1094G= (p.Arg365=)
c.1325G= (p.Arg442=)
c.-212+2084C= (n.-212+2084C=)
12g.52306127G>TCA384918981KRT81,KRT86c.1094G>T (p.Arg365Leu)
c.1325G>T (p.Arg442Leu)
c.-212+2084C>A (n.-212+2084C>A)
 gnomAD v4
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

Number of alleles fetched