Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52792204T>CCA2618960285KRT3c.1188+35A>G (n.1188+35A>G)
c.828+35A>G (n.828+35A>G)
c.1452+35A>G (n.1452+35A>G)
gnomAD v4
12g.52792205C>GCA2618960287KRT3c.1188+34G>C (n.1188+34G>C)
c.828+34G>C (n.828+34G>C)
c.1452+34G>C (n.1452+34G>C)
gnomAD v4
12g.52792205C>TCA2726183183KRT3c.1188+34G>A (n.1188+34G>A)
c.828+34G>A (n.828+34G>A)
c.1452+34G>A (n.1452+34G>A)
dbSNP
12g.52792206delCA2618960286KRT3c.1188+34del (n.1188+34del)
c.828+34del (n.828+34del)
c.1452+34del (n.1452+34del)
gnomAD v4
12g.52792206C>ACA2618960288KRT3c.1188+33G>T (n.1188+33G>T)
c.828+33G>T (n.828+33G>T)
c.1452+33G>T (n.1452+33G>T)
gnomAD v4
12g.52792208G>ACA6587993KRT3c.1188+31C>T (n.1188+31C>T)
c.828+31C>T (n.828+31C>T)
c.1452+31C>T (n.1452+31C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792208G=CA2036677321KRT3c.1188+31C= (n.1188+31C=)
c.828+31C= (n.828+31C=)
c.1452+31C= (n.1452+31C=)
12g.52792208G>TCA2036677323KRT3c.1188+31C>A (n.1188+31C>A)
c.828+31C>A (n.828+31C>A)
c.1452+31C>A (n.1452+31C>A)
dbSNP
12g.52792209T>ACA2796006261KRT3c.1188+30A>T (n.1188+30A>T)
c.828+30A>T (n.828+30A>T)
c.1452+30A>T (n.1452+30A>T)
12g.52792210G>ACA2036677326KRT3c.1188+29C>T (n.1188+29C>T)
c.828+29C>T (n.828+29C>T)
c.1452+29C>T (n.1452+29C>T)
dbSNP
12g.52792210G=CA2036677325KRT3c.1188+29C= (n.1188+29C=)
c.828+29C= (n.828+29C=)
c.1452+29C= (n.1452+29C=)
12g.52792211delCA2618960289KRT3c.1188+29del (n.1188+29del)
c.828+29del (n.828+29del)
c.1452+29del (n.1452+29del)
gnomAD v4
12g.52792214C>GCA2575167606KRT3c.1188+25G>C (n.1188+25G>C)
c.828+25G>C (n.828+25G>C)
c.1452+25G>C (n.1452+25G>C)
gnomAD v4
12g.52792216C>ACA2618960291KRT3c.1188+23G>T (n.1188+23G>T)
c.828+23G>T (n.828+23G>T)
c.1452+23G>T (n.1452+23G>T)
gnomAD v4
12g.52792216C=CA2036677329KRT3c.1188+23G= (n.1188+23G=)
c.828+23G= (n.828+23G=)
c.1452+23G= (n.1452+23G=)
12g.52792216C>TCA6587994KRT3c.1188+23G>A (n.1188+23G>A)
c.828+23G>A (n.828+23G>A)
c.1452+23G>A (n.1452+23G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792217G>ACA6587995KRT3c.1188+22C>T (n.1188+22C>T)
c.828+22C>T (n.828+22C>T)
c.1452+22C>T (n.1452+22C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792217G=CA2036677332KRT3c.1188+22C= (n.1188+22C=)
c.828+22C= (n.828+22C=)
c.1452+22C= (n.1452+22C=)
12g.52792218T>CCA6587996KRT3c.1188+21A>G (n.1188+21A>G)
c.828+21A>G (n.828+21A>G)
c.1452+21A>G (n.1452+21A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792218T=CA2036677334KRT3c.1188+21A= (n.1188+21A=)
c.828+21A= (n.828+21A=)
c.1452+21A= (n.1452+21A=)
12g.52792219A=CA2036677336KRT3c.1188+20T= (n.1188+20T=)
c.828+20T= (n.828+20T=)
c.1452+20T= (n.1452+20T=)
12g.52792219A>GCA605241939KRT3c.1188+20T>C (n.1188+20T>C)
c.828+20T>C (n.828+20T>C)
c.1452+20T>C (n.1452+20T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52792220A>GCA2618960292KRT3c.1188+19T>C (n.1188+19T>C)
c.828+19T>C (n.828+19T>C)
c.1452+19T>C (n.1452+19T>C)
gnomAD v4
12g.52792221G>CCA2796006262KRT3c.1188+18C>G (n.1188+18C>G)
c.828+18C>G (n.828+18C>G)
c.1452+18C>G (n.1452+18C>G)
12g.52792223G>ACA605241940KRT3c.1188+16C>T (n.1188+16C>T)
c.828+16C>T (n.828+16C>T)
c.1452+16C>T (n.1452+16C>T)
dbSNP gnomAD v2
12g.52792223G=CA2036677338KRT3c.1188+16C= (n.1188+16C=)
c.828+16C= (n.828+16C=)
c.1452+16C= (n.1452+16C=)
12g.52792224G>ACA6587997KRT3c.1188+15C>T (n.1188+15C>T)
c.828+15C>T (n.828+15C>T)
c.1452+15C>T (n.1452+15C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792224G>CCA2036677341KRT3c.1188+15C>G (n.1188+15C>G)
c.828+15C>G (n.828+15C>G)
c.1452+15C>G (n.1452+15C>G)
dbSNP gnomAD v4
12g.52792224G=CA2036677340KRT3c.1188+15C= (n.1188+15C=)
c.828+15C= (n.828+15C=)
c.1452+15C= (n.1452+15C=)
12g.52792227A=CA2036677344KRT3c.1188+12T= (n.1188+12T=)
c.828+12T= (n.828+12T=)
c.1452+12T= (n.1452+12T=)
12g.52792227A>GCA605241941KRT3c.1188+12T>C (n.1188+12T>C)
c.828+12T>C (n.828+12T>C)
c.1452+12T>C (n.1452+12T>C)
dbSNP gnomAD v2 gnomAD v4
12g.52792228C>GCA2618960293KRT3c.1188+11G>C (n.1188+11G>C)
c.828+11G>C (n.828+11G>C)
c.1452+11G>C (n.1452+11G>C)
gnomAD v4
12g.52792229T>CCA2618960295KRT3c.1188+10A>G (n.1188+10A>G)
c.828+10A>G (n.828+10A>G)
c.1452+10A>G (n.1452+10A>G)
gnomAD v4
12g.52792230A=CA2036677346KRT3c.1188+9T= (n.1188+9T=)
c.828+9T= (n.828+9T=)
c.1452+9T= (n.1452+9T=)
12g.52792230A>GCA605241942KRT3c.1188+9T>C (n.1188+9T>C)
c.828+9T>C (n.828+9T>C)
c.1452+9T>C (n.1452+9T>C)
dbSNP gnomAD v2
12g.52792231G>ACA605241943KRT3c.1188+8C>T (n.1188+8C>T)
c.828+8C>T (n.828+8C>T)
c.1452+8C>T (n.1452+8C>T)
dbSNP gnomAD v2 gnomAD v4
12g.52792231G=CA2036677348KRT3c.1188+8C= (n.1188+8C=)
c.828+8C= (n.828+8C=)
c.1452+8C= (n.1452+8C=)
12g.52792232C>TCA2618960297KRT3c.1188+7G>A (n.1188+7G>A)
c.828+7G>A (n.828+7G>A)
c.1452+7G>A (n.1452+7G>A)
gnomAD v4
12g.52792233_52792234delCA2618960296KRT3c.1188+6_1188+7del (n.1188+6_1188+7del)
c.828+6_828+7del (n.828+6_828+7del)
c.1452+6_1452+7del (n.1452+6_1452+7del)
gnomAD v4
12g.52792234C>TCA2618960298KRT3c.1188+5G>A (n.1188+5G>A)
c.828+5G>A (n.828+5G>A)
c.1452+5G>A (n.1452+5G>A)
gnomAD v4
12g.52792235C>ACA2618960299KRT3c.1188+4G>T (n.1188+4G>T)
c.828+4G>T (n.828+4G>T)
c.1452+4G>T (n.1452+4G>T)
gnomAD v4
12g.52792235C=CA2036677350KRT3c.1188+4G= (n.1188+4G=)
c.828+4G= (n.828+4G=)
c.1452+4G= (n.1452+4G=)
12g.52792235C>TCA6587998KRT3c.1188+4G>A (n.1188+4G>A)
c.828+4G>A (n.828+4G>A)
c.1452+4G>A (n.1452+4G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52792236C=CA2036677352KRT3c.1188+3G= (n.1188+3G=)
c.828+3G= (n.828+3G=)
c.1452+3G= (n.1452+3G=)
12g.52792236C>TCA605241944KRT3c.1188+3G>A (n.1188+3G>A)
c.828+3G>A (n.828+3G>A)
c.1452+3G>A (n.1452+3G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52792237A>CCA384971721KRT3c.1188+2T>G (n.1188+2T>G)
c.828+2T>G (n.828+2T>G)
c.1452+2T>G (n.1452+2T>G)
12g.52792237A>GCA384971723KRT3c.1188+2T>C (n.1188+2T>C)
c.828+2T>C (n.828+2T>C)
c.1452+2T>C (n.1452+2T>C)
12g.52792237A>TCA384971731KRT3c.1188+2T>A (n.1188+2T>A)
c.828+2T>A (n.828+2T>A)
c.1452+2T>A (n.1452+2T>A)
12g.52792238C>ACA384971736KRT3c.1188+1G>T (n.1188+1G>T)
c.828+1G>T (n.828+1G>T)
c.1452+1G>T (n.1452+1G>T)
dbSNP
12g.52792238C=CA2036677355KRT3c.1188+1G= (n.1188+1G=)
c.828+1G= (n.828+1G=)
c.1452+1G= (n.1452+1G=)
12g.52792238C>GCA384971734KRT3c.1188+1G>C (n.1188+1G>C)
c.828+1G>C (n.828+1G>C)
c.1452+1G>C (n.1452+1G>C)
12g.52792238C>TCA384971735KRT3c.1188+1G>A (n.1188+1G>A)
c.828+1G>A (n.828+1G>A)
c.1452+1G>A (n.1452+1G>A)
12g.52792239C>ACA384971738KRT3c.1188G>T (p.Lys396Asn)
c.828G>T (p.Lys276Asn)
c.1452G>T (p.Lys484Asn)
12g.52792239C>GCA384971739KRT3c.1188G>C (p.Lys396Asn)
c.828G>C (p.Lys276Asn)
c.1452G>C (p.Lys484Asn)
12g.52792239C>TCA479864265KRT3c.1188G>A (p.Lys396=)
c.828G>A (p.Lys276=)
c.1452G>A (p.Lys484=)
12g.52792240T>ACA384971744KRT3c.1187A>T (p.Lys396Met)
c.827A>T (p.Lys276Met)
c.1451A>T (p.Lys484Met)
12g.52792240T>CCA384971749KRT3c.1187A>G (p.Lys396Arg)
c.827A>G (p.Lys276Arg)
c.1451A>G (p.Lys484Arg)
12g.52792240T>GCA384971751KRT3c.1187A>C (p.Lys396Thr)
c.827A>C (p.Lys276Thr)
c.1451A>C (p.Lys484Thr)
12g.52792241T>ACA384971755KRT3c.1186A>T (p.Lys396Ter)
c.826A>T (p.Lys276Ter)
c.1450A>T (p.Lys484Ter)
12g.52792241T>CCA384971759KRT3c.1186A>G (p.Lys396Glu)
c.826A>G (p.Lys276Glu)
c.1450A>G (p.Lys484Glu)
gnomAD v4
12g.52792241T>GCA384971758KRT3c.1186A>C (p.Lys396Gln)
c.826A>C (p.Lys276Gln)
c.1450A>C (p.Lys484Gln)
12g.52792242G>ACA479864266KRT3c.1185C>T (p.Thr395=)
c.825C>T (p.Thr275=)
c.1449C>T (p.Thr483=)
12g.52792242G>CCA479864267KRT3c.1185C>G (p.Thr395=)
c.825C>G (p.Thr275=)
c.1449C>G (p.Thr483=)
12g.52792242G>TCA479864268KRT3c.1185C>A (p.Thr395=)
c.825C>A (p.Thr275=)
c.1449C>A (p.Thr483=)
gnomAD v4
12g.52792243G>ACA6587999KRT3c.1184C>T (p.Thr395Ile)
c.824C>T (p.Thr275Ile)
c.1448C>T (p.Thr483Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792243G>CCA384971761KRT3c.1184C>G (p.Thr395Ser)
c.824C>G (p.Thr275Ser)
c.1448C>G (p.Thr483Ser)
12g.52792243G=CA2036677357KRT3c.1184C= (p.Thr395=)
c.824C= (p.Thr275=)
c.1448C= (p.Thr483=)
12g.52792243G>TCA384971765KRT3c.1184C>A (p.Thr395Asn)
c.824C>A (p.Thr275Asn)
c.1448C>A (p.Thr483Asn)
12g.52792244T>ACA384971768KRT3c.1183A>T (p.Thr395Ser)
c.823A>T (p.Thr275Ser)
c.1447A>T (p.Thr483Ser)
12g.52792244T>CCA384971772KRT3c.1183A>G (p.Thr395Ala)
c.823A>G (p.Thr275Ala)
c.1447A>G (p.Thr483Ala)
12g.52792244T>GCA384971781KRT3c.1183A>C (p.Thr395Pro)
c.823A>C (p.Thr275Pro)
c.1447A>C (p.Thr483Pro)
12g.52792245C>ACA384971786KRT3c.1182G>T (p.Gln394His)
c.822G>T (p.Gln274His)
c.1446G>T (p.Gln482His)
12g.52792245C>GCA384971789KRT3c.1182G>C (p.Gln394His)
c.822G>C (p.Gln274His)
c.1446G>C (p.Gln482His)
12g.52792245C>TCA479864269KRT3c.1182G>A (p.Gln394=)
c.822G>A (p.Gln274=)
c.1446G>A (p.Gln482=)
COSMIC
12g.52792246T>ACA384971797KRT3c.1181A>T (p.Gln394Leu)
c.821A>T (p.Gln274Leu)
c.1445A>T (p.Gln482Leu)
12g.52792246T>CCA384971800KRT3c.1181A>G (p.Gln394Arg)
c.821A>G (p.Gln274Arg)
c.1445A>G (p.Gln482Arg)
dbSNP gnomAD v2 gnomAD v4
12g.52792246T>GCA384971802KRT3c.1181A>C (p.Gln394Pro)
c.821A>C (p.Gln274Pro)
c.1445A>C (p.Gln482Pro)
12g.52792246T=CA2036677363KRT3c.1181A= (p.Gln394=)
c.821A= (p.Gln274=)
c.1445A= (p.Gln482=)
12g.52792247G>ACA384971808KRT3c.1180C>T (p.Gln394Ter)
c.820C>T (p.Gln274Ter)
c.1444C>T (p.Gln482Ter)
dbSNP gnomAD v2 gnomAD v4
12g.52792247G>CCA384971815KRT3c.1180C>G (p.Gln394Glu)
c.820C>G (p.Gln274Glu)
c.1444C>G (p.Gln482Glu)
12g.52792247G=CA2036677367KRT3c.1180C= (p.Gln394=)
c.820C= (p.Gln274=)
c.1444C= (p.Gln482=)
12g.52792247G>TCA384971812KRT3c.1180C>A (p.Gln394Lys)
c.820C>A (p.Gln274Lys)
c.1444C>A (p.Gln482Lys)
12g.52792248delCA2618960302KRT3c.1180del (p.Gln394ArgfsTer18)
c.820del (p.Gln274ArgfsTer18)
c.1444del (p.Gln482ArgfsTer18)
gnomAD v4
12g.52792248G>ACA479864270KRT3c.1179C>T (p.Tyr393=)
c.819C>T (p.Tyr273=)
c.1443C>T (p.Tyr481=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52792248G>CCA384971819KRT3c.1179C>G (p.Tyr393Ter)
c.819C>G (p.Tyr273Ter)
c.1443C>G (p.Tyr481Ter)
dbSNP
12g.52792248G=CA2036677371KRT3c.1179C= (p.Tyr393=)
c.819C= (p.Tyr273=)
c.1443C= (p.Tyr481=)
12g.52792248G>TCA384971824KRT3c.1179C>A (p.Tyr393Ter)
c.819C>A (p.Tyr273Ter)
c.1443C>A (p.Tyr481Ter)
12g.52792249T>ACA384971829KRT3c.1178A>T (p.Tyr393Phe)
c.818A>T (p.Tyr273Phe)
c.1442A>T (p.Tyr481Phe)
12g.52792249T>CCA384971830KRT3c.1178A>G (p.Tyr393Cys)
c.818A>G (p.Tyr273Cys)
c.1442A>G (p.Tyr481Cys)
12g.52792249T>GCA384971831KRT3c.1178A>C (p.Tyr393Ser)
c.818A>C (p.Tyr273Ser)
c.1442A>C (p.Tyr481Ser)
12g.52792250A>CCA384971832KRT3c.1177T>G (p.Tyr393Asp)
c.817T>G (p.Tyr273Asp)
c.1441T>G (p.Tyr481Asp)
12g.52792250A>GCA384971835KRT3c.1177T>C (p.Tyr393His)
c.817T>C (p.Tyr273His)
c.1441T>C (p.Tyr481His)
12g.52792250A>TCA384971840KRT3c.1177T>A (p.Tyr393Asn)
c.817T>A (p.Tyr273Asn)
c.1441T>A (p.Tyr481Asn)
12g.52792251C>ACA479864272KRT3c.1176G>T (p.Leu392=)
c.816G>T (p.Leu272=)
c.1440G>T (p.Leu480=)
12g.52792251C=CA2036677374KRT3c.1176G= (p.Leu392=)
c.816G= (p.Leu272=)
c.1440G= (p.Leu480=)
12g.52792251C>GCA479864273KRT3c.1176G>C (p.Leu392=)
c.816G>C (p.Leu272=)
c.1440G>C (p.Leu480=)
12g.52792251C>TCA479864274KRT3c.1176G>A (p.Leu392=)
c.816G>A (p.Leu272=)
c.1440G>A (p.Leu480=)
dbSNP
12g.52792252A>CCA384971844KRT3c.1175T>G (p.Leu392Arg)
c.815T>G (p.Leu272Arg)
c.1439T>G (p.Leu480Arg)
12g.52792252A>GCA384971849KRT3c.1175T>C (p.Leu392Pro)
c.815T>C (p.Leu272Pro)
c.1439T>C (p.Leu480Pro)
12g.52792252A>TCA384971851KRT3c.1175T>A (p.Leu392Gln)
c.815T>A (p.Leu272Gln)
c.1439T>A (p.Leu480Gln)
12g.52792253G>ACA479864275KRT3c.1174C>T (p.Leu392=)
c.814C>T (p.Leu272=)
c.1438C>T (p.Leu480=)
gnomAD v4 COSMIC
12g.52792253G>CCA384971853KRT3c.1174C>G (p.Leu392Val)
c.814C>G (p.Leu272Val)
c.1438C>G (p.Leu480Val)
12g.52792253G>TCA384971857KRT3c.1174C>A (p.Leu392Met)
c.814C>A (p.Leu272Met)
c.1438C>A (p.Leu480Met)
12g.52792254G>ACA479864276KRT3c.1173C>T (p.Ala391=)
c.813C>T (p.Ala271=)
c.1437C>T (p.Ala479=)
12g.52792254G>CCA479864277KRT3c.1173C>G (p.Ala391=)
c.813C>G (p.Ala271=)
c.1437C>G (p.Ala479=)
12g.52792254G>TCA479864278KRT3c.1173C>A (p.Ala391=)
c.813C>A (p.Ala271=)
c.1437C>A (p.Ala479=)
12g.52792255G>ACA384971882KRT3c.1172C>T (p.Ala391Val)
c.812C>T (p.Ala271Val)
c.1436C>T (p.Ala479Val)
gnomAD v4
12g.52792255G>CCA237258775KRT3c.1172C>G (p.Ala391Gly)
c.812C>G (p.Ala271Gly)
c.1436C>G (p.Ala479Gly)
dbSNP
12g.52792255G=CA2036677375KRT3c.1172C= (p.Ala391=)
c.812C= (p.Ala271=)
c.1436C= (p.Ala479=)
12g.52792255G>TCA384971870KRT3c.1172C>A (p.Ala391Asp)
c.812C>A (p.Ala271Asp)
c.1436C>A (p.Ala479Asp)
dbSNP
12g.52792256C>ACA384971892KRT3c.1171G>T (p.Ala391Ser)
c.811G>T (p.Ala271Ser)
c.1435G>T (p.Ala479Ser)
dbSNP gnomAD v3 gnomAD v4
12g.52792256C=CA2036677382KRT3c.1171G= (p.Ala391=)
c.811G= (p.Ala271=)
c.1435G= (p.Ala479=)
12g.52792256C>GCA384971894KRT3c.1171G>C (p.Ala391Pro)
c.811G>C (p.Ala271Pro)
c.1435G>C (p.Ala479Pro)
12g.52792256C>TCA237258781KRT3c.1171G>A (p.Ala391Thr)
c.811G>A (p.Ala271Thr)
c.1435G>A (p.Ala479Thr)
dbSNP
12g.52792257C>ACA384971903KRT3c.1170G>T (p.Glu390Asp)
c.810G>T (p.Glu270Asp)
c.1434G>T (p.Glu478Asp)
12g.52792257C>GCA384971906KRT3c.1170G>C (p.Glu390Asp)
c.810G>C (p.Glu270Asp)
c.1434G>C (p.Glu478Asp)
12g.52792257C>TCA479864280KRT3c.1170G>A (p.Glu390=)
c.810G>A (p.Glu270=)
c.1434G>A (p.Glu478=)
12g.52792258T>ACA384971907KRT3c.1169A>T (p.Glu390Val)
c.809A>T (p.Glu270Val)
c.1433A>T (p.Glu478Val)
12g.52792258T>CCA384971908KRT3c.1169A>G (p.Glu390Gly)
c.809A>G (p.Glu270Gly)
c.1433A>G (p.Glu478Gly)
12g.52792258T>GCA384971911KRT3c.1169A>C (p.Glu390Ala)
c.809A>C (p.Glu270Ala)
c.1433A>C (p.Glu478Ala)
12g.52792259C>ACA384971913KRT3c.1168G>T (p.Glu390Ter)
c.808G>T (p.Glu270Ter)
c.1432G>T (p.Glu478Ter)
12g.52792259C=CA2036677386KRT3c.1168G= (p.Glu390=)
c.808G= (p.Glu270=)
c.1432G= (p.Glu478=)
12g.52792259C>GCA384971918KRT3c.1168G>C (p.Glu390Gln)
c.808G>C (p.Glu270Gln)
c.1432G>C (p.Glu478Gln)
12g.52792259C>TCA6588000KRT3c.1168G>A (p.Glu390Lys)
c.808G>A (p.Glu270Lys)
c.1432G>A (p.Glu478Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52792260A>CCA479864282KRT3c.1167T>G (p.Ala389=)
c.807T>G (p.Ala269=)
c.1431T>G (p.Ala477=)
12g.52792260A>GCA479864283KRT3c.1167T>C (p.Ala389=)
c.807T>C (p.Ala269=)
c.1431T>C (p.Ala477=)
12g.52792260A>TCA479864284KRT3c.1167T>A (p.Ala389=)
c.807T>A (p.Ala269=)
c.1431T>A (p.Ala477=)
12g.52792261G>ACA384971926KRT3c.1166C>T (p.Ala389Val)
c.806C>T (p.Ala269Val)
c.1430C>T (p.Ala477Val)
12g.52792261G>CCA6588001KRT3c.1166C>G (p.Ala389Gly)
c.806C>G (p.Ala269Gly)
c.1430C>G (p.Ala477Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52792261G=CA2036677389KRT3c.1166C= (p.Ala389=)
c.806C= (p.Ala269=)
c.1430C= (p.Ala477=)
12g.52792261G>TCA384971933KRT3c.1166C>A (p.Ala389Asp)
c.806C>A (p.Ala269Asp)
c.1430C>A (p.Ala477Asp)
gnomAD v4
12g.52792262C>ACA384971941KRT3c.1165G>T (p.Ala389Ser)
c.805G>T (p.Ala269Ser)
c.1429G>T (p.Ala477Ser)
12g.52792262C>GCA384971944KRT3c.1165G>C (p.Ala389Pro)
c.805G>C (p.Ala269Pro)
c.1429G>C (p.Ala477Pro)
12g.52792262C>TCA384971937KRT3c.1165G>A (p.Ala389Thr)
c.805G>A (p.Ala269Thr)
c.1429G>A (p.Ala477Thr)
12g.52792263T>ACA384971948KRT3c.1164A>T (p.Glu388Asp)
c.804A>T (p.Glu268Asp)
c.1428A>T (p.Glu476Asp)
12g.52792263T>CCA479864285KRT3c.1164A>G (p.Glu388=)
c.804A>G (p.Glu268=)
c.1428A>G (p.Glu476=)
12g.52792263T>GCA384971952KRT3c.1164A>C (p.Glu388Asp)
c.804A>C (p.Glu268Asp)
c.1428A>C (p.Glu476Asp)
12g.52792264T>ACA384971957KRT3c.1163A>T (p.Glu388Val)
c.803A>T (p.Glu268Val)
c.1427A>T (p.Glu476Val)
12g.52792264T>CCA384971961KRT3c.1163A>G (p.Glu388Gly)
c.803A>G (p.Glu268Gly)
c.1427A>G (p.Glu476Gly)
12g.52792264T>GCA384971964KRT3c.1163A>C (p.Glu388Ala)
c.803A>C (p.Glu268Ala)
c.1427A>C (p.Glu476Ala)
12g.52792265C>ACA384971969KRT3c.1162G>T (p.Glu388Ter)
c.802G>T (p.Glu268Ter)
c.1426G>T (p.Glu476Ter)
12g.52792265C=CA2036677393KRT3c.1162G= (p.Glu388=)
c.802G= (p.Glu268=)
c.1426G= (p.Glu476=)
12g.52792265C>GCA384971972KRT3c.1162G>C (p.Glu388Gln)
c.802G>C (p.Glu268Gln)
c.1426G>C (p.Glu476Gln)
12g.52792265C>TCA6588002KRT3c.1162G>A (p.Glu388Lys)
c.802G>A (p.Glu268Lys)
c.1426G>A (p.Glu476Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792266G>ACA6588004KRT3c.1161C>T (p.Ala387=)
c.801C>T (p.Ala267=)
c.1425C>T (p.Ala475=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52792266G>CCA6588003KRT3c.1161C>G (p.Ala387=)
c.801C>G (p.Ala267=)
c.1425C>G (p.Ala475=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792266G=CA2036677396KRT3c.1161C= (p.Ala387=)
c.801C= (p.Ala267=)
c.1425C= (p.Ala475=)
12g.52792266G>TCA479864290KRT3c.1161C>A (p.Ala387=)
c.801C>A (p.Ala267=)
c.1425C>A (p.Ala475=)
12g.52792267G>ACA384971984KRT3c.1160C>T (p.Ala387Val)
c.800C>T (p.Ala267Val)
c.1424C>T (p.Ala475Val)
dbSNP
12g.52792267G>CCA384971987KRT3c.1160C>G (p.Ala387Gly)
c.800C>G (p.Ala267Gly)
c.1424C>G (p.Ala475Gly)
12g.52792267G=CA2036677399KRT3c.1160C= (p.Ala387=)
c.800C= (p.Ala267=)
c.1424C= (p.Ala475=)
12g.52792267G>TCA384971991KRT3c.1160C>A (p.Ala387Asp)
c.800C>A (p.Ala267Asp)
c.1424C>A (p.Ala475Asp)
12g.52792268C>ACA384971997KRT3c.1159G>T (p.Ala387Ser)
c.799G>T (p.Ala267Ser)
c.1423G>T (p.Ala475Ser)
12g.52792268C=CA2036677402KRT3c.1159G= (p.Ala387=)
c.799G= (p.Ala267=)
c.1423G= (p.Ala475=)
12g.52792268C>GCA384972007KRT3c.1159G>C (p.Ala387Pro)
c.799G>C (p.Ala267Pro)
c.1423G>C (p.Ala475Pro)
12g.52792268C>TCA384972001KRT3c.1159G>A (p.Ala387Thr)
c.799G>A (p.Ala267Thr)
c.1423G>A (p.Ala475Thr)
dbSNP
12g.52792269C>ACA384972012KRT3c.1158G>T (p.Lys386Asn)
c.798G>T (p.Lys266Asn)
c.1422G>T (p.Lys474Asn)
12g.52792269C>GCA384972023KRT3c.1158G>C (p.Lys386Asn)
c.798G>C (p.Lys266Asn)
c.1422G>C (p.Lys474Asn)
gnomAD v4
12g.52792269C>TCA479864292KRT3c.1158G>A (p.Lys386=)
c.798G>A (p.Lys266=)
c.1422G>A (p.Lys474=)
12g.52792270T>ACA384972028KRT3c.1157A>T (p.Lys386Met)
c.797A>T (p.Lys266Met)
c.1421A>T (p.Lys474Met)
12g.52792270T>CCA384972035KRT3c.1157A>G (p.Lys386Arg)
c.797A>G (p.Lys266Arg)
c.1421A>G (p.Lys474Arg)
12g.52792270T>GCA384972038KRT3c.1157A>C (p.Lys386Thr)
c.797A>C (p.Lys266Thr)
c.1421A>C (p.Lys474Thr)
12g.52792271T>ACA384972042KRT3c.1156A>T (p.Lys386Ter)
c.796A>T (p.Lys266Ter)
c.1420A>T (p.Lys474Ter)
12g.52792271T>CCA384972052KRT3c.1156A>G (p.Lys386Glu)
c.796A>G (p.Lys266Glu)
c.1420A>G (p.Lys474Glu)
12g.52792271T>GCA384972064KRT3c.1156A>C (p.Lys386Gln)
c.796A>C (p.Lys266Gln)
c.1420A>C (p.Lys474Gln)
12g.52792272G>ACA479864294KRT3c.1155C>T (p.Ser385=)
c.795C>T (p.Ser265=)
c.1419C>T (p.Ser473=)
12g.52792272G>CCA384972066KRT3c.1155C>G (p.Ser385Arg)
c.795C>G (p.Ser265Arg)
c.1419C>G (p.Ser473Arg)
12g.52792272G=CA2036677404KRT3c.1155C= (p.Ser385=)
c.795C= (p.Ser265=)
c.1419C= (p.Ser473=)
12g.52792272G>TCA384972068KRT3c.1155C>A (p.Ser385Arg)
c.795C>A (p.Ser265Arg)
c.1419C>A (p.Ser473Arg)
dbSNP gnomAD v4
12g.52792273C>ACA384972071KRT3c.1154G>T (p.Ser385Ile)
c.794G>T (p.Ser265Ile)
c.1418G>T (p.Ser473Ile)
12g.52792273C>GCA384972076KRT3c.1154G>C (p.Ser385Thr)
c.794G>C (p.Ser265Thr)
c.1418G>C (p.Ser473Thr)
12g.52792273C>TCA384972073KRT3c.1154G>A (p.Ser385Asn)
c.794G>A (p.Ser265Asn)
c.1418G>A (p.Ser473Asn)
gnomAD v4
12g.52792274T>ACA384972082KRT3c.1153A>T (p.Ser385Cys)
c.793A>T (p.Ser265Cys)
c.1417A>T (p.Ser473Cys)
12g.52792274T>CCA384972096KRT3c.1153A>G (p.Ser385Gly)
c.793A>G (p.Ser265Gly)
c.1417A>G (p.Ser473Gly)
12g.52792274T>GCA384972087KRT3c.1153A>C (p.Ser385Arg)
c.793A>C (p.Ser265Arg)
c.1417A>C (p.Ser473Arg)
12g.52792275T>ACA384972101KRT3c.1152A>T (p.Arg384Ser)
c.792A>T (p.Arg264Ser)
c.1416A>T (p.Arg472Ser)
12g.52792275T>CCA479864296KRT3c.1152A>G (p.Arg384=)
c.792A>G (p.Arg264=)
c.1416A>G (p.Arg472=)
12g.52792275T>GCA384972103KRT3c.1152A>C (p.Arg384Ser)
c.792A>C (p.Arg264Ser)
c.1416A>C (p.Arg472Ser)
12g.52792276C>ACA384972107KRT3c.1151G>T (p.Arg384Ile)
c.791G>T (p.Arg264Ile)
c.1415G>T (p.Arg472Ile)
12g.52792276C>GCA384972111KRT3c.1151G>C (p.Arg384Thr)
c.791G>C (p.Arg264Thr)
c.1415G>C (p.Arg472Thr)
12g.52792276C>TCA384972113KRT3c.1151G>A (p.Arg384Lys)
c.791G>A (p.Arg264Lys)
c.1415G>A (p.Arg472Lys)
12g.52792277T>ACA384972115KRT3c.1150A>T (p.Arg384Ter)
c.790A>T (p.Arg264Ter)
c.1414A>T (p.Arg472Ter)
12g.52792277T>CCA384972117KRT3c.1150A>G (p.Arg384Gly)
c.790A>G (p.Arg264Gly)
c.1414A>G (p.Arg472Gly)
dbSNP gnomAD v2 gnomAD v4
12g.52792277T>GCA479864298KRT3c.1150A>C (p.Arg384=)
c.790A>C (p.Arg264=)
c.1414A>C (p.Arg472=)
12g.52792277T=CA2036677408KRT3c.1150A= (p.Arg384=)
c.790A= (p.Arg264=)
c.1414A= (p.Arg472=)
12g.52792278C>ACA384972126KRT3c.1149G>T (p.Gln383His)
c.789G>T (p.Gln263His)
c.1413G>T (p.Gln471His)
12g.52792278C=CA2036677412KRT3c.1149G= (p.Gln383=)
c.789G= (p.Gln263=)
c.1413G= (p.Gln471=)
12g.52792278C>GCA384972124KRT3c.1149G>C (p.Gln383His)
c.789G>C (p.Gln263His)
c.1413G>C (p.Gln471His)
dbSNP gnomAD v3 gnomAD v4
12g.52792278C>TCA479864299KRT3c.1149G>A (p.Gln383=)
c.789G>A (p.Gln263=)
c.1413G>A (p.Gln471=)
12g.52792279T>ACA6588005KRT3c.1148A>T (p.Gln383Leu)
c.788A>T (p.Gln263Leu)
c.1412A>T (p.Gln471Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52792279T>CCA384972131KRT3c.1148A>G (p.Gln383Arg)
c.788A>G (p.Gln263Arg)
c.1412A>G (p.Gln471Arg)
12g.52792279T>GCA384972134KRT3c.1148A>C (p.Gln383Pro)
c.788A>C (p.Gln263Pro)
c.1412A>C (p.Gln471Pro)
12g.52792279T=CA2036677414KRT3c.1148A= (p.Gln383=)
c.788A= (p.Gln263=)
c.1412A= (p.Gln471=)
12g.52792280G>ACA6588006KRT3c.1147C>T (p.Gln383Ter)
c.787C>T (p.Gln263Ter)
c.1411C>T (p.Gln471Ter)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52792280G>CCA384972138KRT3c.1147C>G (p.Gln383Glu)
c.787C>G (p.Gln263Glu)
c.1411C>G (p.Gln471Glu)
12g.52792280G=CA2036677416KRT3c.1147C= (p.Gln383=)
c.787C= (p.Gln263=)
c.1411C= (p.Gln471=)
12g.52792280G>TCA384972139KRT3c.1147C>A (p.Gln383Lys)
c.787C>A (p.Gln263Lys)
c.1411C>A (p.Gln471Lys)
12g.52792281A>CCA479864302KRT3c.1146T>G (p.Ala382=)
c.786T>G (p.Ala262=)
c.1410T>G (p.Ala470=)
12g.52792281A>GCA479864303KRT3c.1146T>C (p.Ala382=)
c.786T>C (p.Ala262=)
c.1410T>C (p.Ala470=)
12g.52792281A>TCA479864304KRT3c.1146T>A (p.Ala382=)
c.786T>A (p.Ala262=)
c.1410T>A (p.Ala470=)
12g.52792282G>ACA384972150KRT3c.1145C>T (p.Ala382Val)
c.785C>T (p.Ala262Val)
c.1409C>T (p.Ala470Val)
dbSNP gnomAD v4
12g.52792282G>CCA384972142KRT3c.1145C>G (p.Ala382Gly)
c.785C>G (p.Ala262Gly)
c.1409C>G (p.Ala470Gly)
12g.52792282G=CA2036677419KRT3c.1145C= (p.Ala382=)
c.785C= (p.Ala262=)
c.1409C= (p.Ala470=)
12g.52792282G>TCA384972147KRT3c.1145C>A (p.Ala382Asp)
c.785C>A (p.Ala262Asp)
c.1409C>A (p.Ala470Asp)
12g.52792283C>ACA384972159KRT3c.1144G>T (p.Ala382Ser)
c.784G>T (p.Ala262Ser)
c.1408G>T (p.Ala470Ser)
gnomAD v4
12g.52792283C=CA2036677422KRT3c.1144G= (p.Ala382=)
c.784G= (p.Ala262=)
c.1408G= (p.Ala470=)
12g.52792283C>GCA384972161KRT3c.1144G>C (p.Ala382Pro)
c.784G>C (p.Ala262Pro)
c.1408G>C (p.Ala470Pro)
12g.52792283C>TCA6588007KRT3c.1144G>A (p.Ala382Thr)
c.784G>A (p.Ala262Thr)
c.1408G>A (p.Ala470Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52792284G>ACA6588008KRT3c.1143C>T (p.Ile381=)
c.783C>T (p.Ile261=)
c.1407C>T (p.Ile469=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792284G>CCA237258810KRT3c.1143C>G (p.Ile381Met)
c.783C>G (p.Ile261Met)
c.1407C>G (p.Ile469Met)
dbSNP gnomAD v4
12g.52792284G=CA2036677425KRT3c.1143C= (p.Ile381=)
c.783C= (p.Ile261=)
c.1407C= (p.Ile469=)
12g.52792284G>TCA479864305KRT3c.1143C>A (p.Ile381=)
c.783C>A (p.Ile261=)
c.1407C>A (p.Ile469=)
12g.52792285A>CCA384972207KRT3c.1142T>G (p.Ile381Ser)
c.782T>G (p.Ile261Ser)
c.1406T>G (p.Ile469Ser)
12g.52792285A>GCA384972209KRT3c.1142T>C (p.Ile381Thr)
c.782T>C (p.Ile261Thr)
c.1406T>C (p.Ile469Thr)
12g.52792285A>TCA384972211KRT3c.1142T>A (p.Ile381Asn)
c.782T>A (p.Ile261Asn)
c.1406T>A (p.Ile469Asn)
12g.52792288_52792295delCA2618960338KRT3c.1135_1142del (p.Glu379ArgfsTer9)
c.775_782del (p.Glu259ArgfsTer9)
c.1399_1406del (p.Glu467ArgfsTer9)
gnomAD v4
12g.52792286T>ACA384972213KRT3c.1141A>T (p.Ile381Phe)
c.781A>T (p.Ile261Phe)
c.1405A>T (p.Ile469Phe)
12g.52792286T>CCA6588009KRT3c.1141A>G (p.Ile381Val)
c.781A>G (p.Ile261Val)
c.1405A>G (p.Ile469Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52792286T>GCA384972227KRT3c.1141A>C (p.Ile381Leu)
c.781A>C (p.Ile261Leu)
c.1405A>C (p.Ile469Leu)
12g.52792286T=CA2036677428KRT3c.1141A= (p.Ile381=)
c.781A= (p.Ile261=)
c.1405A= (p.Ile469=)
12g.52792287A=CA2036677430KRT3c.1140T= (p.Asp380=)
c.780T= (p.Asp260=)
c.1404T= (p.Asp468=)
12g.52792287A>CCA384972233KRT3c.1140T>G (p.Asp380Glu)
c.780T>G (p.Asp260Glu)
c.1404T>G (p.Asp468Glu)
12g.52792287A>GCA479864307KRT3c.1140T>C (p.Asp380=)
c.780T>C (p.Asp260=)
c.1404T>C (p.Asp468=)
dbSNP gnomAD v2 gnomAD v4
12g.52792287A>TCA384972237KRT3c.1140T>A (p.Asp380Glu)
c.780T>A (p.Asp260Glu)
c.1404T>A (p.Asp468Glu)
12g.52792288T>ACA237258824KRT3c.1139A>T (p.Asp380Val)
c.779A>T (p.Asp260Val)
c.1403A>T (p.Asp468Val)
dbSNP gnomAD v2 gnomAD v4
12g.52792288T>CCA384972258KRT3c.1139A>G (p.Asp380Gly)
c.779A>G (p.Asp260Gly)
c.1403A>G (p.Asp468Gly)
dbSNP
12g.52792288T>GCA384972245KRT3c.1139A>C (p.Asp380Ala)
c.779A>C (p.Asp260Ala)
c.1403A>C (p.Asp468Ala)
12g.52792288T=CA2036677435KRT3c.1139A= (p.Asp380=)
c.779A= (p.Asp260=)
c.1403A= (p.Asp468=)
12g.52792289C>ACA384972259KRT3c.1138G>T (p.Asp380Tyr)
c.778G>T (p.Asp260Tyr)
c.1402G>T (p.Asp468Tyr)
12g.52792289C=CA2036677437KRT3c.1138G= (p.Asp380=)
c.778G= (p.Asp260=)
c.1402G= (p.Asp468=)
12g.52792289C>GCA237258829KRT3c.1138G>C (p.Asp380His)
c.778G>C (p.Asp260His)
c.1402G>C (p.Asp468His)
dbSNP gnomAD v3 gnomAD v4
12g.52792289C>TCA384972262KRT3c.1138G>A (p.Asp380Asn)
c.778G>A (p.Asp260Asn)
c.1402G>A (p.Asp468Asn)
12g.52792290C>ACA384972266KRT3c.1137G>T (p.Glu379Asp)
c.777G>T (p.Glu259Asp)
c.1401G>T (p.Glu467Asp)
12g.52792290C=CA2036677440KRT3c.1137G= (p.Glu379=)
c.777G= (p.Glu259=)
c.1401G= (p.Glu467=)
12g.52792290C>GCA384972271KRT3c.1137G>C (p.Glu379Asp)
c.777G>C (p.Glu259Asp)
c.1401G>C (p.Glu467Asp)
12g.52792290C>TCA6588010KRT3c.1137G>A (p.Glu379=)
c.777G>A (p.Glu259=)
c.1401G>A (p.Glu467=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52792291T>ACA384972293KRT3c.1136A>T (p.Glu379Val)
c.776A>T (p.Glu259Val)
c.1400A>T (p.Glu467Val)
12g.52792291T>CCA384972290KRT3c.1136A>G (p.Glu379Gly)
c.776A>G (p.Glu259Gly)
c.1400A>G (p.Glu467Gly)
12g.52792291T>GCA384972291KRT3c.1136A>C (p.Glu379Ala)
c.776A>C (p.Glu259Ala)
c.1400A>C (p.Glu467Ala)
12g.52792292C>ACA384972297KRT3c.1135G>T (p.Glu379Ter)
c.775G>T (p.Glu259Ter)
c.1399G>T (p.Glu467Ter)
12g.52792292C>GCA384972304KRT3c.1135G>C (p.Glu379Gln)
c.775G>C (p.Glu259Gln)
c.1399G>C (p.Glu467Gln)
12g.52792292C>TCA384972306KRT3c.1135G>A (p.Glu379Lys)
c.775G>A (p.Glu259Lys)
c.1399G>A (p.Glu467Lys)
12g.52792293A=CA2036677443KRT3c.1134T= (p.Tyr378=)
c.774T= (p.Tyr258=)
c.1398T= (p.Tyr466=)
12g.52792293A>CCA384972307KRT3c.1134T>G (p.Tyr378Ter)
c.774T>G (p.Tyr258Ter)
c.1398T>G (p.Tyr466Ter)
12g.52792293A>GCA479864313KRT3c.1134T>C (p.Tyr378=)
c.774T>C (p.Tyr258=)
c.1398T>C (p.Tyr466=)
dbSNP gnomAD v3 gnomAD v4
12g.52792293A>TCA384972308KRT3c.1134T>A (p.Tyr378Ter)
c.774T>A (p.Tyr258Ter)
c.1398T>A (p.Tyr466Ter)
12g.52792294T>ACA384972312KRT3c.1133A>T (p.Tyr378Phe)
c.773A>T (p.Tyr258Phe)
c.1397A>T (p.Tyr466Phe)
12g.52792294T>CCA384972317KRT3c.1133A>G (p.Tyr378Cys)
c.773A>G (p.Tyr258Cys)
c.1397A>G (p.Tyr466Cys)
gnomAD v4
12g.52792294T>GCA384972314KRT3c.1133A>C (p.Tyr378Ser)
c.773A>C (p.Tyr258Ser)
c.1397A>C (p.Tyr466Ser)
12g.52792295A=CA2036677445KRT3c.1132T= (p.Tyr378=)
c.772T= (p.Tyr258=)
c.1396T= (p.Tyr466=)
12g.52792295A>CCA384972323KRT3c.1132T>G (p.Tyr378Asp)
c.772T>G (p.Tyr258Asp)
c.1396T>G (p.Tyr466Asp)
12g.52792295A>GCA6588011KRT3c.1132T>C (p.Tyr378His)
c.772T>C (p.Tyr258His)
c.1396T>C (p.Tyr466His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792295A>TCA384972324KRT3c.1132T>A (p.Tyr378Asn)
c.772T>A (p.Tyr258Asn)
c.1396T>A (p.Tyr466Asn)
12g.52792296C>ACA384972326KRT3c.1131G>T (p.Gln377His)
c.771G>T (p.Gln257His)
c.1395G>T (p.Gln465His)
12g.52792296C>GCA384972330KRT3c.1131G>C (p.Gln377His)
c.771G>C (p.Gln257His)
c.1395G>C (p.Gln465His)
12g.52792296C>TCA479864314KRT3c.1131G>A (p.Gln377=)
c.771G>A (p.Gln257=)
c.1395G>A (p.Gln465=)
gnomAD v4 COSMIC
12g.52792297T>ACA384972332KRT3c.1130A>T (p.Gln377Leu)
c.770A>T (p.Gln257Leu)
c.1394A>T (p.Gln465Leu)
gnomAD v4 COSMIC
12g.52792297T>CCA384972340KRT3c.1130A>G (p.Gln377Arg)
c.770A>G (p.Gln257Arg)
c.1394A>G (p.Gln465Arg)
12g.52792297T>GCA384972344KRT3c.1130A>C (p.Gln377Pro)
c.770A>C (p.Gln257Pro)
c.1394A>C (p.Gln465Pro)
12g.52792298G>ACA384972353KRT3c.1129C>T (p.Gln377Ter)
c.769C>T (p.Gln257Ter)
c.1393C>T (p.Gln465Ter)
12g.52792298G>CCA384972359KRT3c.1129C>G (p.Gln377Glu)
c.769C>G (p.Gln257Glu)
c.1393C>G (p.Gln465Glu)
gnomAD v4
12g.52792298G=CA2036677448KRT3c.1129C= (p.Gln377=)
c.769C= (p.Gln257=)
c.1393C= (p.Gln465=)
12g.52792298G>TCA384972360KRT3c.1129C>A (p.Gln377Lys)
c.769C>A (p.Gln257Lys)
c.1393C>A (p.Gln465Lys)
dbSNP gnomAD v3 gnomAD v4
12g.52792299T>ACA479864316KRT3c.1128A>T (p.Ala376=)
c.768A>T (p.Ala256=)
c.1392A>T (p.Ala464=)
gnomAD v4
12g.52792299T>CCA479864317KRT3c.1128A>G (p.Ala376=)
c.768A>G (p.Ala256=)
c.1392A>G (p.Ala464=)
gnomAD v4
12g.52792299T>GCA479864318KRT3c.1128A>C (p.Ala376=)
c.768A>C (p.Ala256=)
c.1392A>C (p.Ala464=)
12g.52792300G>ACA384972368KRT3c.1127C>T (p.Ala376Val)
c.767C>T (p.Ala256Val)
c.1391C>T (p.Ala464Val)
gnomAD v4
12g.52792300G>CCA384972361KRT3c.1127C>G (p.Ala376Gly)
c.767C>G (p.Ala256Gly)
c.1391C>G (p.Ala464Gly)
12g.52792300G>TCA384972364KRT3c.1127C>A (p.Ala376Glu)
c.767C>A (p.Ala256Glu)
c.1391C>A (p.Ala464Glu)
12g.52792301C>ACA384972371KRT3c.1126G>T (p.Ala376Ser)
c.766G>T (p.Ala256Ser)
c.1390G>T (p.Ala464Ser)
12g.52792301C>GCA384972375KRT3c.1126G>C (p.Ala376Pro)
c.766G>C (p.Ala256Pro)
c.1390G>C (p.Ala464Pro)
12g.52792301C>TCA384972373KRT3c.1126G>A (p.Ala376Thr)
c.766G>A (p.Ala256Thr)
c.1390G>A (p.Ala464Thr)
gnomAD v4
12g.52792302A>CCA479864319KRT3c.1125T>G (p.Arg375=)
c.765T>G (p.Arg255=)
c.1389T>G (p.Arg463=)
12g.52792302A>GCA479864320KRT3c.1125T>C (p.Arg375=)
c.765T>C (p.Arg255=)
c.1389T>C (p.Arg463=)
12g.52792302A>TCA479864321KRT3c.1125T>A (p.Arg375=)
c.765T>A (p.Arg255=)
c.1389T>A (p.Arg463=)
12g.52792303C>ACA384972376KRT3c.1124G>T (p.Arg375Leu)
c.764G>T (p.Arg255Leu)
c.1388G>T (p.Arg463Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52792303C=CA2036677451KRT3c.1124G= (p.Arg375=)
c.764G= (p.Arg255=)
c.1388G= (p.Arg463=)
12g.52792303C>GCA384972377KRT3c.1124G>C (p.Arg375Pro)
c.764G>C (p.Arg255Pro)
c.1388G>C (p.Arg463Pro)
gnomAD v4
12g.52792303C>TCA384972383KRT3c.1124G>A (p.Arg375His)
c.764G>A (p.Arg255His)
c.1388G>A (p.Arg463His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52792304G>ACA6588013KRT3c.1123C>T (p.Arg375Cys)
c.763C>T (p.Arg255Cys)
c.1387C>T (p.Arg463Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792304G>CCA6588012KRT3c.1123C>G (p.Arg375Gly)
c.763C>G (p.Arg255Gly)
c.1387C>G (p.Arg463Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52792304G=CA2036677455KRT3c.1123C= (p.Arg375=)
c.763C= (p.Arg255=)
c.1387C= (p.Arg463=)
12g.52792304G>TCA384972406KRT3c.1123C>A (p.Arg375Ser)
c.763C>A (p.Arg255Ser)
c.1387C>A (p.Arg463Ser)
dbSNP

Number of alleles fetched