Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52792204T>C | CA2618960285 | KRT3 | c.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 |
12 | g.52792205C>G | CA2618960287 | KRT3 | c.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 |
12 | g.52792205C>T | CA2726183183 | KRT3 | c.1188+34G>A (n.1188+34G>A) c.828+34G>A (n.828+34G>A) c.1452+34G>A (n.1452+34G>A) | dbSNP |
12 | g.52792206del | CA2618960286 | KRT3 | c.1188+34del (n.1188+34del) c.828+34del (n.828+34del) c.1452+34del (n.1452+34del) | gnomAD v4 |
12 | g.52792206C>A | CA2618960288 | KRT3 | c.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 |
12 | g.52792208G>A | CA6587993 | KRT3 | c.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 |
12 | g.52792208G= | CA2036677321 | KRT3 | c.1188+31C= (n.1188+31C=) c.828+31C= (n.828+31C=) c.1452+31C= (n.1452+31C=) | |
12 | g.52792208G>T | CA2036677323 | KRT3 | c.1188+31C>A (n.1188+31C>A) c.828+31C>A (n.828+31C>A) c.1452+31C>A (n.1452+31C>A) | dbSNP |
12 | g.52792209T>A | CA2796006261 | KRT3 | c.1188+30A>T (n.1188+30A>T) c.828+30A>T (n.828+30A>T) c.1452+30A>T (n.1452+30A>T) | |
12 | g.52792210G>A | CA2036677326 | KRT3 | c.1188+29C>T (n.1188+29C>T) c.828+29C>T (n.828+29C>T) c.1452+29C>T (n.1452+29C>T) | dbSNP |
12 | g.52792210G= | CA2036677325 | KRT3 | c.1188+29C= (n.1188+29C=) c.828+29C= (n.828+29C=) c.1452+29C= (n.1452+29C=) | |
12 | g.52792211del | CA2618960289 | KRT3 | c.1188+29del (n.1188+29del) c.828+29del (n.828+29del) c.1452+29del (n.1452+29del) | gnomAD v4 |
12 | g.52792214C>G | CA2575167606 | KRT3 | c.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 |
12 | g.52792216C>A | CA2618960291 | KRT3 | c.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 |
12 | g.52792216C= | CA2036677329 | KRT3 | c.1188+23G= (n.1188+23G=) c.828+23G= (n.828+23G=) c.1452+23G= (n.1452+23G=) | |
12 | g.52792216C>T | CA6587994 | KRT3 | c.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 |
12 | g.52792217G>A | CA6587995 | KRT3 | c.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 |
12 | g.52792217G= | CA2036677332 | KRT3 | c.1188+22C= (n.1188+22C=) c.828+22C= (n.828+22C=) c.1452+22C= (n.1452+22C=) | |
12 | g.52792218T>C | CA6587996 | KRT3 | c.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 |
12 | g.52792218T= | CA2036677334 | KRT3 | c.1188+21A= (n.1188+21A=) c.828+21A= (n.828+21A=) c.1452+21A= (n.1452+21A=) | |
12 | g.52792219A= | CA2036677336 | KRT3 | c.1188+20T= (n.1188+20T=) c.828+20T= (n.828+20T=) c.1452+20T= (n.1452+20T=) | |
12 | g.52792219A>G | CA605241939 | KRT3 | c.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 |
12 | g.52792220A>G | CA2618960292 | KRT3 | c.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 |
12 | g.52792221G>C | CA2796006262 | KRT3 | c.1188+18C>G (n.1188+18C>G) c.828+18C>G (n.828+18C>G) c.1452+18C>G (n.1452+18C>G) | |
12 | g.52792223G>A | CA605241940 | KRT3 | c.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 |
12 | g.52792223G= | CA2036677338 | KRT3 | c.1188+16C= (n.1188+16C=) c.828+16C= (n.828+16C=) c.1452+16C= (n.1452+16C=) | |
12 | g.52792224G>A | CA6587997 | KRT3 | c.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 |
12 | g.52792224G>C | CA2036677341 | KRT3 | c.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 |
12 | g.52792224G= | CA2036677340 | KRT3 | c.1188+15C= (n.1188+15C=) c.828+15C= (n.828+15C=) c.1452+15C= (n.1452+15C=) | |
12 | g.52792227A= | CA2036677344 | KRT3 | c.1188+12T= (n.1188+12T=) c.828+12T= (n.828+12T=) c.1452+12T= (n.1452+12T=) | |
12 | g.52792227A>G | CA605241941 | KRT3 | c.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 |
12 | g.52792228C>G | CA2618960293 | KRT3 | c.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 |
12 | g.52792229T>C | CA2618960295 | KRT3 | c.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 |
12 | g.52792230A= | CA2036677346 | KRT3 | c.1188+9T= (n.1188+9T=) c.828+9T= (n.828+9T=) c.1452+9T= (n.1452+9T=) | |
12 | g.52792230A>G | CA605241942 | KRT3 | c.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 |
12 | g.52792231G>A | CA605241943 | KRT3 | c.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 |
12 | g.52792231G= | CA2036677348 | KRT3 | c.1188+8C= (n.1188+8C=) c.828+8C= (n.828+8C=) c.1452+8C= (n.1452+8C=) | |
12 | g.52792232C>T | CA2618960297 | KRT3 | c.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 |
12 | g.52792233_52792234del | CA2618960296 | KRT3 | c.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 |
12 | g.52792234C>T | CA2618960298 | KRT3 | c.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 |
12 | g.52792235C>A | CA2618960299 | KRT3 | c.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 |
12 | g.52792235C= | CA2036677350 | KRT3 | c.1188+4G= (n.1188+4G=) c.828+4G= (n.828+4G=) c.1452+4G= (n.1452+4G=) | |
12 | g.52792235C>T | CA6587998 | KRT3 | c.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 |
12 | g.52792236C= | CA2036677352 | KRT3 | c.1188+3G= (n.1188+3G=) c.828+3G= (n.828+3G=) c.1452+3G= (n.1452+3G=) | |
12 | g.52792236C>T | CA605241944 | KRT3 | c.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 |
12 | g.52792237A>C | CA384971721 | KRT3 | c.1188+2T>G (n.1188+2T>G) c.828+2T>G (n.828+2T>G) c.1452+2T>G (n.1452+2T>G) | |
12 | g.52792237A>G | CA384971723 | KRT3 | c.1188+2T>C (n.1188+2T>C) c.828+2T>C (n.828+2T>C) c.1452+2T>C (n.1452+2T>C) | |
12 | g.52792237A>T | CA384971731 | KRT3 | c.1188+2T>A (n.1188+2T>A) c.828+2T>A (n.828+2T>A) c.1452+2T>A (n.1452+2T>A) | |
12 | g.52792238C>A | CA384971736 | KRT3 | c.1188+1G>T (n.1188+1G>T) c.828+1G>T (n.828+1G>T) c.1452+1G>T (n.1452+1G>T) | dbSNP |
12 | g.52792238C= | CA2036677355 | KRT3 | c.1188+1G= (n.1188+1G=) c.828+1G= (n.828+1G=) c.1452+1G= (n.1452+1G=) | |
12 | g.52792238C>G | CA384971734 | KRT3 | c.1188+1G>C (n.1188+1G>C) c.828+1G>C (n.828+1G>C) c.1452+1G>C (n.1452+1G>C) | |
12 | g.52792238C>T | CA384971735 | KRT3 | c.1188+1G>A (n.1188+1G>A) c.828+1G>A (n.828+1G>A) c.1452+1G>A (n.1452+1G>A) | |
12 | g.52792239C>A | CA384971738 | KRT3 | c.1188G>T (p.Lys396Asn) c.828G>T (p.Lys276Asn) c.1452G>T (p.Lys484Asn) | |
12 | g.52792239C>G | CA384971739 | KRT3 | c.1188G>C (p.Lys396Asn) c.828G>C (p.Lys276Asn) c.1452G>C (p.Lys484Asn) | |
12 | g.52792239C>T | CA479864265 | KRT3 | c.1188G>A (p.Lys396=) c.828G>A (p.Lys276=) c.1452G>A (p.Lys484=) | |
12 | g.52792240T>A | CA384971744 | KRT3 | c.1187A>T (p.Lys396Met) c.827A>T (p.Lys276Met) c.1451A>T (p.Lys484Met) | |
12 | g.52792240T>C | CA384971749 | KRT3 | c.1187A>G (p.Lys396Arg) c.827A>G (p.Lys276Arg) c.1451A>G (p.Lys484Arg) | |
12 | g.52792240T>G | CA384971751 | KRT3 | c.1187A>C (p.Lys396Thr) c.827A>C (p.Lys276Thr) c.1451A>C (p.Lys484Thr) | |
12 | g.52792241T>A | CA384971755 | KRT3 | c.1186A>T (p.Lys396Ter) c.826A>T (p.Lys276Ter) c.1450A>T (p.Lys484Ter) | |
12 | g.52792241T>C | CA384971759 | KRT3 | c.1186A>G (p.Lys396Glu) c.826A>G (p.Lys276Glu) c.1450A>G (p.Lys484Glu) | gnomAD v4 |
12 | g.52792241T>G | CA384971758 | KRT3 | c.1186A>C (p.Lys396Gln) c.826A>C (p.Lys276Gln) c.1450A>C (p.Lys484Gln) | |
12 | g.52792242G>A | CA479864266 | KRT3 | c.1185C>T (p.Thr395=) c.825C>T (p.Thr275=) c.1449C>T (p.Thr483=) | |
12 | g.52792242G>C | CA479864267 | KRT3 | c.1185C>G (p.Thr395=) c.825C>G (p.Thr275=) c.1449C>G (p.Thr483=) | |
12 | g.52792242G>T | CA479864268 | KRT3 | c.1185C>A (p.Thr395=) c.825C>A (p.Thr275=) c.1449C>A (p.Thr483=) | gnomAD v4 |
12 | g.52792243G>A | CA6587999 | KRT3 | c.1184C>T (p.Thr395Ile) c.824C>T (p.Thr275Ile) c.1448C>T (p.Thr483Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792243G>C | CA384971761 | KRT3 | c.1184C>G (p.Thr395Ser) c.824C>G (p.Thr275Ser) c.1448C>G (p.Thr483Ser) | |
12 | g.52792243G= | CA2036677357 | KRT3 | c.1184C= (p.Thr395=) c.824C= (p.Thr275=) c.1448C= (p.Thr483=) | |
12 | g.52792243G>T | CA384971765 | KRT3 | c.1184C>A (p.Thr395Asn) c.824C>A (p.Thr275Asn) c.1448C>A (p.Thr483Asn) | |
12 | g.52792244T>A | CA384971768 | KRT3 | c.1183A>T (p.Thr395Ser) c.823A>T (p.Thr275Ser) c.1447A>T (p.Thr483Ser) | |
12 | g.52792244T>C | CA384971772 | KRT3 | c.1183A>G (p.Thr395Ala) c.823A>G (p.Thr275Ala) c.1447A>G (p.Thr483Ala) | |
12 | g.52792244T>G | CA384971781 | KRT3 | c.1183A>C (p.Thr395Pro) c.823A>C (p.Thr275Pro) c.1447A>C (p.Thr483Pro) | |
12 | g.52792245C>A | CA384971786 | KRT3 | c.1182G>T (p.Gln394His) c.822G>T (p.Gln274His) c.1446G>T (p.Gln482His) | |
12 | g.52792245C>G | CA384971789 | KRT3 | c.1182G>C (p.Gln394His) c.822G>C (p.Gln274His) c.1446G>C (p.Gln482His) | |
12 | g.52792245C>T | CA479864269 | KRT3 | c.1182G>A (p.Gln394=) c.822G>A (p.Gln274=) c.1446G>A (p.Gln482=) | COSMIC |
12 | g.52792246T>A | CA384971797 | KRT3 | c.1181A>T (p.Gln394Leu) c.821A>T (p.Gln274Leu) c.1445A>T (p.Gln482Leu) | |
12 | g.52792246T>C | CA384971800 | KRT3 | c.1181A>G (p.Gln394Arg) c.821A>G (p.Gln274Arg) c.1445A>G (p.Gln482Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52792246T>G | CA384971802 | KRT3 | c.1181A>C (p.Gln394Pro) c.821A>C (p.Gln274Pro) c.1445A>C (p.Gln482Pro) | |
12 | g.52792246T= | CA2036677363 | KRT3 | c.1181A= (p.Gln394=) c.821A= (p.Gln274=) c.1445A= (p.Gln482=) | |
12 | g.52792247G>A | CA384971808 | KRT3 | c.1180C>T (p.Gln394Ter) c.820C>T (p.Gln274Ter) c.1444C>T (p.Gln482Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52792247G>C | CA384971815 | KRT3 | c.1180C>G (p.Gln394Glu) c.820C>G (p.Gln274Glu) c.1444C>G (p.Gln482Glu) | |
12 | g.52792247G= | CA2036677367 | KRT3 | c.1180C= (p.Gln394=) c.820C= (p.Gln274=) c.1444C= (p.Gln482=) | |
12 | g.52792247G>T | CA384971812 | KRT3 | c.1180C>A (p.Gln394Lys) c.820C>A (p.Gln274Lys) c.1444C>A (p.Gln482Lys) | |
12 | g.52792248del | CA2618960302 | KRT3 | c.1180del (p.Gln394ArgfsTer18) c.820del (p.Gln274ArgfsTer18) c.1444del (p.Gln482ArgfsTer18) | gnomAD v4 |
12 | g.52792248G>A | CA479864270 | KRT3 | c.1179C>T (p.Tyr393=) c.819C>T (p.Tyr273=) c.1443C>T (p.Tyr481=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792248G>C | CA384971819 | KRT3 | c.1179C>G (p.Tyr393Ter) c.819C>G (p.Tyr273Ter) c.1443C>G (p.Tyr481Ter) | dbSNP |
12 | g.52792248G= | CA2036677371 | KRT3 | c.1179C= (p.Tyr393=) c.819C= (p.Tyr273=) c.1443C= (p.Tyr481=) | |
12 | g.52792248G>T | CA384971824 | KRT3 | c.1179C>A (p.Tyr393Ter) c.819C>A (p.Tyr273Ter) c.1443C>A (p.Tyr481Ter) | |
12 | g.52792249T>A | CA384971829 | KRT3 | c.1178A>T (p.Tyr393Phe) c.818A>T (p.Tyr273Phe) c.1442A>T (p.Tyr481Phe) | |
12 | g.52792249T>C | CA384971830 | KRT3 | c.1178A>G (p.Tyr393Cys) c.818A>G (p.Tyr273Cys) c.1442A>G (p.Tyr481Cys) | |
12 | g.52792249T>G | CA384971831 | KRT3 | c.1178A>C (p.Tyr393Ser) c.818A>C (p.Tyr273Ser) c.1442A>C (p.Tyr481Ser) | |
12 | g.52792250A>C | CA384971832 | KRT3 | c.1177T>G (p.Tyr393Asp) c.817T>G (p.Tyr273Asp) c.1441T>G (p.Tyr481Asp) | |
12 | g.52792250A>G | CA384971835 | KRT3 | c.1177T>C (p.Tyr393His) c.817T>C (p.Tyr273His) c.1441T>C (p.Tyr481His) | |
12 | g.52792250A>T | CA384971840 | KRT3 | c.1177T>A (p.Tyr393Asn) c.817T>A (p.Tyr273Asn) c.1441T>A (p.Tyr481Asn) | |
12 | g.52792251C>A | CA479864272 | KRT3 | c.1176G>T (p.Leu392=) c.816G>T (p.Leu272=) c.1440G>T (p.Leu480=) | |
12 | g.52792251C= | CA2036677374 | KRT3 | c.1176G= (p.Leu392=) c.816G= (p.Leu272=) c.1440G= (p.Leu480=) | |
12 | g.52792251C>G | CA479864273 | KRT3 | c.1176G>C (p.Leu392=) c.816G>C (p.Leu272=) c.1440G>C (p.Leu480=) | |
12 | g.52792251C>T | CA479864274 | KRT3 | c.1176G>A (p.Leu392=) c.816G>A (p.Leu272=) c.1440G>A (p.Leu480=) | dbSNP |
12 | g.52792252A>C | CA384971844 | KRT3 | c.1175T>G (p.Leu392Arg) c.815T>G (p.Leu272Arg) c.1439T>G (p.Leu480Arg) | |
12 | g.52792252A>G | CA384971849 | KRT3 | c.1175T>C (p.Leu392Pro) c.815T>C (p.Leu272Pro) c.1439T>C (p.Leu480Pro) | |
12 | g.52792252A>T | CA384971851 | KRT3 | c.1175T>A (p.Leu392Gln) c.815T>A (p.Leu272Gln) c.1439T>A (p.Leu480Gln) | |
12 | g.52792253G>A | CA479864275 | KRT3 | c.1174C>T (p.Leu392=) c.814C>T (p.Leu272=) c.1438C>T (p.Leu480=) | gnomAD v4 COSMIC |
12 | g.52792253G>C | CA384971853 | KRT3 | c.1174C>G (p.Leu392Val) c.814C>G (p.Leu272Val) c.1438C>G (p.Leu480Val) | |
12 | g.52792253G>T | CA384971857 | KRT3 | c.1174C>A (p.Leu392Met) c.814C>A (p.Leu272Met) c.1438C>A (p.Leu480Met) | |
12 | g.52792254G>A | CA479864276 | KRT3 | c.1173C>T (p.Ala391=) c.813C>T (p.Ala271=) c.1437C>T (p.Ala479=) | |
12 | g.52792254G>C | CA479864277 | KRT3 | c.1173C>G (p.Ala391=) c.813C>G (p.Ala271=) c.1437C>G (p.Ala479=) | |
12 | g.52792254G>T | CA479864278 | KRT3 | c.1173C>A (p.Ala391=) c.813C>A (p.Ala271=) c.1437C>A (p.Ala479=) | |
12 | g.52792255G>A | CA384971882 | KRT3 | c.1172C>T (p.Ala391Val) c.812C>T (p.Ala271Val) c.1436C>T (p.Ala479Val) | gnomAD v4 |
12 | g.52792255G>C | CA237258775 | KRT3 | c.1172C>G (p.Ala391Gly) c.812C>G (p.Ala271Gly) c.1436C>G (p.Ala479Gly) | dbSNP |
12 | g.52792255G= | CA2036677375 | KRT3 | c.1172C= (p.Ala391=) c.812C= (p.Ala271=) c.1436C= (p.Ala479=) | |
12 | g.52792255G>T | CA384971870 | KRT3 | c.1172C>A (p.Ala391Asp) c.812C>A (p.Ala271Asp) c.1436C>A (p.Ala479Asp) | dbSNP |
12 | g.52792256C>A | CA384971892 | KRT3 | c.1171G>T (p.Ala391Ser) c.811G>T (p.Ala271Ser) c.1435G>T (p.Ala479Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52792256C= | CA2036677382 | KRT3 | c.1171G= (p.Ala391=) c.811G= (p.Ala271=) c.1435G= (p.Ala479=) | |
12 | g.52792256C>G | CA384971894 | KRT3 | c.1171G>C (p.Ala391Pro) c.811G>C (p.Ala271Pro) c.1435G>C (p.Ala479Pro) | |
12 | g.52792256C>T | CA237258781 | KRT3 | c.1171G>A (p.Ala391Thr) c.811G>A (p.Ala271Thr) c.1435G>A (p.Ala479Thr) | dbSNP |
12 | g.52792257C>A | CA384971903 | KRT3 | c.1170G>T (p.Glu390Asp) c.810G>T (p.Glu270Asp) c.1434G>T (p.Glu478Asp) | |
12 | g.52792257C>G | CA384971906 | KRT3 | c.1170G>C (p.Glu390Asp) c.810G>C (p.Glu270Asp) c.1434G>C (p.Glu478Asp) | |
12 | g.52792257C>T | CA479864280 | KRT3 | c.1170G>A (p.Glu390=) c.810G>A (p.Glu270=) c.1434G>A (p.Glu478=) | |
12 | g.52792258T>A | CA384971907 | KRT3 | c.1169A>T (p.Glu390Val) c.809A>T (p.Glu270Val) c.1433A>T (p.Glu478Val) | |
12 | g.52792258T>C | CA384971908 | KRT3 | c.1169A>G (p.Glu390Gly) c.809A>G (p.Glu270Gly) c.1433A>G (p.Glu478Gly) | |
12 | g.52792258T>G | CA384971911 | KRT3 | c.1169A>C (p.Glu390Ala) c.809A>C (p.Glu270Ala) c.1433A>C (p.Glu478Ala) | |
12 | g.52792259C>A | CA384971913 | KRT3 | c.1168G>T (p.Glu390Ter) c.808G>T (p.Glu270Ter) c.1432G>T (p.Glu478Ter) | |
12 | g.52792259C= | CA2036677386 | KRT3 | c.1168G= (p.Glu390=) c.808G= (p.Glu270=) c.1432G= (p.Glu478=) | |
12 | g.52792259C>G | CA384971918 | KRT3 | c.1168G>C (p.Glu390Gln) c.808G>C (p.Glu270Gln) c.1432G>C (p.Glu478Gln) | |
12 | g.52792259C>T | CA6588000 | KRT3 | c.1168G>A (p.Glu390Lys) c.808G>A (p.Glu270Lys) c.1432G>A (p.Glu478Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52792260A>C | CA479864282 | KRT3 | c.1167T>G (p.Ala389=) c.807T>G (p.Ala269=) c.1431T>G (p.Ala477=) | |
12 | g.52792260A>G | CA479864283 | KRT3 | c.1167T>C (p.Ala389=) c.807T>C (p.Ala269=) c.1431T>C (p.Ala477=) | |
12 | g.52792260A>T | CA479864284 | KRT3 | c.1167T>A (p.Ala389=) c.807T>A (p.Ala269=) c.1431T>A (p.Ala477=) | |
12 | g.52792261G>A | CA384971926 | KRT3 | c.1166C>T (p.Ala389Val) c.806C>T (p.Ala269Val) c.1430C>T (p.Ala477Val) | |
12 | g.52792261G>C | CA6588001 | KRT3 | c.1166C>G (p.Ala389Gly) c.806C>G (p.Ala269Gly) c.1430C>G (p.Ala477Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52792261G= | CA2036677389 | KRT3 | c.1166C= (p.Ala389=) c.806C= (p.Ala269=) c.1430C= (p.Ala477=) | |
12 | g.52792261G>T | CA384971933 | KRT3 | c.1166C>A (p.Ala389Asp) c.806C>A (p.Ala269Asp) c.1430C>A (p.Ala477Asp) | gnomAD v4 |
12 | g.52792262C>A | CA384971941 | KRT3 | c.1165G>T (p.Ala389Ser) c.805G>T (p.Ala269Ser) c.1429G>T (p.Ala477Ser) | |
12 | g.52792262C>G | CA384971944 | KRT3 | c.1165G>C (p.Ala389Pro) c.805G>C (p.Ala269Pro) c.1429G>C (p.Ala477Pro) | |
12 | g.52792262C>T | CA384971937 | KRT3 | c.1165G>A (p.Ala389Thr) c.805G>A (p.Ala269Thr) c.1429G>A (p.Ala477Thr) | |
12 | g.52792263T>A | CA384971948 | KRT3 | c.1164A>T (p.Glu388Asp) c.804A>T (p.Glu268Asp) c.1428A>T (p.Glu476Asp) | |
12 | g.52792263T>C | CA479864285 | KRT3 | c.1164A>G (p.Glu388=) c.804A>G (p.Glu268=) c.1428A>G (p.Glu476=) | |
12 | g.52792263T>G | CA384971952 | KRT3 | c.1164A>C (p.Glu388Asp) c.804A>C (p.Glu268Asp) c.1428A>C (p.Glu476Asp) | |
12 | g.52792264T>A | CA384971957 | KRT3 | c.1163A>T (p.Glu388Val) c.803A>T (p.Glu268Val) c.1427A>T (p.Glu476Val) | |
12 | g.52792264T>C | CA384971961 | KRT3 | c.1163A>G (p.Glu388Gly) c.803A>G (p.Glu268Gly) c.1427A>G (p.Glu476Gly) | |
12 | g.52792264T>G | CA384971964 | KRT3 | c.1163A>C (p.Glu388Ala) c.803A>C (p.Glu268Ala) c.1427A>C (p.Glu476Ala) | |
12 | g.52792265C>A | CA384971969 | KRT3 | c.1162G>T (p.Glu388Ter) c.802G>T (p.Glu268Ter) c.1426G>T (p.Glu476Ter) | |
12 | g.52792265C= | CA2036677393 | KRT3 | c.1162G= (p.Glu388=) c.802G= (p.Glu268=) c.1426G= (p.Glu476=) | |
12 | g.52792265C>G | CA384971972 | KRT3 | c.1162G>C (p.Glu388Gln) c.802G>C (p.Glu268Gln) c.1426G>C (p.Glu476Gln) | |
12 | g.52792265C>T | CA6588002 | KRT3 | c.1162G>A (p.Glu388Lys) c.802G>A (p.Glu268Lys) c.1426G>A (p.Glu476Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792266G>A | CA6588004 | KRT3 | c.1161C>T (p.Ala387=) c.801C>T (p.Ala267=) c.1425C>T (p.Ala475=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52792266G>C | CA6588003 | KRT3 | c.1161C>G (p.Ala387=) c.801C>G (p.Ala267=) c.1425C>G (p.Ala475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792266G= | CA2036677396 | KRT3 | c.1161C= (p.Ala387=) c.801C= (p.Ala267=) c.1425C= (p.Ala475=) | |
12 | g.52792266G>T | CA479864290 | KRT3 | c.1161C>A (p.Ala387=) c.801C>A (p.Ala267=) c.1425C>A (p.Ala475=) | |
12 | g.52792267G>A | CA384971984 | KRT3 | c.1160C>T (p.Ala387Val) c.800C>T (p.Ala267Val) c.1424C>T (p.Ala475Val) | dbSNP |
12 | g.52792267G>C | CA384971987 | KRT3 | c.1160C>G (p.Ala387Gly) c.800C>G (p.Ala267Gly) c.1424C>G (p.Ala475Gly) | |
12 | g.52792267G= | CA2036677399 | KRT3 | c.1160C= (p.Ala387=) c.800C= (p.Ala267=) c.1424C= (p.Ala475=) | |
12 | g.52792267G>T | CA384971991 | KRT3 | c.1160C>A (p.Ala387Asp) c.800C>A (p.Ala267Asp) c.1424C>A (p.Ala475Asp) | |
12 | g.52792268C>A | CA384971997 | KRT3 | c.1159G>T (p.Ala387Ser) c.799G>T (p.Ala267Ser) c.1423G>T (p.Ala475Ser) | |
12 | g.52792268C= | CA2036677402 | KRT3 | c.1159G= (p.Ala387=) c.799G= (p.Ala267=) c.1423G= (p.Ala475=) | |
12 | g.52792268C>G | CA384972007 | KRT3 | c.1159G>C (p.Ala387Pro) c.799G>C (p.Ala267Pro) c.1423G>C (p.Ala475Pro) | |
12 | g.52792268C>T | CA384972001 | KRT3 | c.1159G>A (p.Ala387Thr) c.799G>A (p.Ala267Thr) c.1423G>A (p.Ala475Thr) | dbSNP |
12 | g.52792269C>A | CA384972012 | KRT3 | c.1158G>T (p.Lys386Asn) c.798G>T (p.Lys266Asn) c.1422G>T (p.Lys474Asn) | |
12 | g.52792269C>G | CA384972023 | KRT3 | c.1158G>C (p.Lys386Asn) c.798G>C (p.Lys266Asn) c.1422G>C (p.Lys474Asn) | gnomAD v4 |
12 | g.52792269C>T | CA479864292 | KRT3 | c.1158G>A (p.Lys386=) c.798G>A (p.Lys266=) c.1422G>A (p.Lys474=) | |
12 | g.52792270T>A | CA384972028 | KRT3 | c.1157A>T (p.Lys386Met) c.797A>T (p.Lys266Met) c.1421A>T (p.Lys474Met) | |
12 | g.52792270T>C | CA384972035 | KRT3 | c.1157A>G (p.Lys386Arg) c.797A>G (p.Lys266Arg) c.1421A>G (p.Lys474Arg) | |
12 | g.52792270T>G | CA384972038 | KRT3 | c.1157A>C (p.Lys386Thr) c.797A>C (p.Lys266Thr) c.1421A>C (p.Lys474Thr) | |
12 | g.52792271T>A | CA384972042 | KRT3 | c.1156A>T (p.Lys386Ter) c.796A>T (p.Lys266Ter) c.1420A>T (p.Lys474Ter) | |
12 | g.52792271T>C | CA384972052 | KRT3 | c.1156A>G (p.Lys386Glu) c.796A>G (p.Lys266Glu) c.1420A>G (p.Lys474Glu) | |
12 | g.52792271T>G | CA384972064 | KRT3 | c.1156A>C (p.Lys386Gln) c.796A>C (p.Lys266Gln) c.1420A>C (p.Lys474Gln) | |
12 | g.52792272G>A | CA479864294 | KRT3 | c.1155C>T (p.Ser385=) c.795C>T (p.Ser265=) c.1419C>T (p.Ser473=) | |
12 | g.52792272G>C | CA384972066 | KRT3 | c.1155C>G (p.Ser385Arg) c.795C>G (p.Ser265Arg) c.1419C>G (p.Ser473Arg) | |
12 | g.52792272G= | CA2036677404 | KRT3 | c.1155C= (p.Ser385=) c.795C= (p.Ser265=) c.1419C= (p.Ser473=) | |
12 | g.52792272G>T | CA384972068 | KRT3 | c.1155C>A (p.Ser385Arg) c.795C>A (p.Ser265Arg) c.1419C>A (p.Ser473Arg) | dbSNP gnomAD v4 |
12 | g.52792273C>A | CA384972071 | KRT3 | c.1154G>T (p.Ser385Ile) c.794G>T (p.Ser265Ile) c.1418G>T (p.Ser473Ile) | |
12 | g.52792273C>G | CA384972076 | KRT3 | c.1154G>C (p.Ser385Thr) c.794G>C (p.Ser265Thr) c.1418G>C (p.Ser473Thr) | |
12 | g.52792273C>T | CA384972073 | KRT3 | c.1154G>A (p.Ser385Asn) c.794G>A (p.Ser265Asn) c.1418G>A (p.Ser473Asn) | gnomAD v4 |
12 | g.52792274T>A | CA384972082 | KRT3 | c.1153A>T (p.Ser385Cys) c.793A>T (p.Ser265Cys) c.1417A>T (p.Ser473Cys) | |
12 | g.52792274T>C | CA384972096 | KRT3 | c.1153A>G (p.Ser385Gly) c.793A>G (p.Ser265Gly) c.1417A>G (p.Ser473Gly) | |
12 | g.52792274T>G | CA384972087 | KRT3 | c.1153A>C (p.Ser385Arg) c.793A>C (p.Ser265Arg) c.1417A>C (p.Ser473Arg) | |
12 | g.52792275T>A | CA384972101 | KRT3 | c.1152A>T (p.Arg384Ser) c.792A>T (p.Arg264Ser) c.1416A>T (p.Arg472Ser) | |
12 | g.52792275T>C | CA479864296 | KRT3 | c.1152A>G (p.Arg384=) c.792A>G (p.Arg264=) c.1416A>G (p.Arg472=) | |
12 | g.52792275T>G | CA384972103 | KRT3 | c.1152A>C (p.Arg384Ser) c.792A>C (p.Arg264Ser) c.1416A>C (p.Arg472Ser) | |
12 | g.52792276C>A | CA384972107 | KRT3 | c.1151G>T (p.Arg384Ile) c.791G>T (p.Arg264Ile) c.1415G>T (p.Arg472Ile) | |
12 | g.52792276C>G | CA384972111 | KRT3 | c.1151G>C (p.Arg384Thr) c.791G>C (p.Arg264Thr) c.1415G>C (p.Arg472Thr) | |
12 | g.52792276C>T | CA384972113 | KRT3 | c.1151G>A (p.Arg384Lys) c.791G>A (p.Arg264Lys) c.1415G>A (p.Arg472Lys) | |
12 | g.52792277T>A | CA384972115 | KRT3 | c.1150A>T (p.Arg384Ter) c.790A>T (p.Arg264Ter) c.1414A>T (p.Arg472Ter) | |
12 | g.52792277T>C | CA384972117 | KRT3 | c.1150A>G (p.Arg384Gly) c.790A>G (p.Arg264Gly) c.1414A>G (p.Arg472Gly) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52792277T>G | CA479864298 | KRT3 | c.1150A>C (p.Arg384=) c.790A>C (p.Arg264=) c.1414A>C (p.Arg472=) | |
12 | g.52792277T= | CA2036677408 | KRT3 | c.1150A= (p.Arg384=) c.790A= (p.Arg264=) c.1414A= (p.Arg472=) | |
12 | g.52792278C>A | CA384972126 | KRT3 | c.1149G>T (p.Gln383His) c.789G>T (p.Gln263His) c.1413G>T (p.Gln471His) | |
12 | g.52792278C= | CA2036677412 | KRT3 | c.1149G= (p.Gln383=) c.789G= (p.Gln263=) c.1413G= (p.Gln471=) | |
12 | g.52792278C>G | CA384972124 | KRT3 | c.1149G>C (p.Gln383His) c.789G>C (p.Gln263His) c.1413G>C (p.Gln471His) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52792278C>T | CA479864299 | KRT3 | c.1149G>A (p.Gln383=) c.789G>A (p.Gln263=) c.1413G>A (p.Gln471=) | |
12 | g.52792279T>A | CA6588005 | KRT3 | c.1148A>T (p.Gln383Leu) c.788A>T (p.Gln263Leu) c.1412A>T (p.Gln471Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52792279T>C | CA384972131 | KRT3 | c.1148A>G (p.Gln383Arg) c.788A>G (p.Gln263Arg) c.1412A>G (p.Gln471Arg) | |
12 | g.52792279T>G | CA384972134 | KRT3 | c.1148A>C (p.Gln383Pro) c.788A>C (p.Gln263Pro) c.1412A>C (p.Gln471Pro) | |
12 | g.52792279T= | CA2036677414 | KRT3 | c.1148A= (p.Gln383=) c.788A= (p.Gln263=) c.1412A= (p.Gln471=) | |
12 | g.52792280G>A | CA6588006 | KRT3 | c.1147C>T (p.Gln383Ter) c.787C>T (p.Gln263Ter) c.1411C>T (p.Gln471Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52792280G>C | CA384972138 | KRT3 | c.1147C>G (p.Gln383Glu) c.787C>G (p.Gln263Glu) c.1411C>G (p.Gln471Glu) | |
12 | g.52792280G= | CA2036677416 | KRT3 | c.1147C= (p.Gln383=) c.787C= (p.Gln263=) c.1411C= (p.Gln471=) | |
12 | g.52792280G>T | CA384972139 | KRT3 | c.1147C>A (p.Gln383Lys) c.787C>A (p.Gln263Lys) c.1411C>A (p.Gln471Lys) | |
12 | g.52792281A>C | CA479864302 | KRT3 | c.1146T>G (p.Ala382=) c.786T>G (p.Ala262=) c.1410T>G (p.Ala470=) | |
12 | g.52792281A>G | CA479864303 | KRT3 | c.1146T>C (p.Ala382=) c.786T>C (p.Ala262=) c.1410T>C (p.Ala470=) | |
12 | g.52792281A>T | CA479864304 | KRT3 | c.1146T>A (p.Ala382=) c.786T>A (p.Ala262=) c.1410T>A (p.Ala470=) | |
12 | g.52792282G>A | CA384972150 | KRT3 | c.1145C>T (p.Ala382Val) c.785C>T (p.Ala262Val) c.1409C>T (p.Ala470Val) | dbSNP gnomAD v4 |
12 | g.52792282G>C | CA384972142 | KRT3 | c.1145C>G (p.Ala382Gly) c.785C>G (p.Ala262Gly) c.1409C>G (p.Ala470Gly) | |
12 | g.52792282G= | CA2036677419 | KRT3 | c.1145C= (p.Ala382=) c.785C= (p.Ala262=) c.1409C= (p.Ala470=) | |
12 | g.52792282G>T | CA384972147 | KRT3 | c.1145C>A (p.Ala382Asp) c.785C>A (p.Ala262Asp) c.1409C>A (p.Ala470Asp) | |
12 | g.52792283C>A | CA384972159 | KRT3 | c.1144G>T (p.Ala382Ser) c.784G>T (p.Ala262Ser) c.1408G>T (p.Ala470Ser) | gnomAD v4 |
12 | g.52792283C= | CA2036677422 | KRT3 | c.1144G= (p.Ala382=) c.784G= (p.Ala262=) c.1408G= (p.Ala470=) | |
12 | g.52792283C>G | CA384972161 | KRT3 | c.1144G>C (p.Ala382Pro) c.784G>C (p.Ala262Pro) c.1408G>C (p.Ala470Pro) | |
12 | g.52792283C>T | CA6588007 | KRT3 | c.1144G>A (p.Ala382Thr) c.784G>A (p.Ala262Thr) c.1408G>A (p.Ala470Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.52792284G>A | CA6588008 | KRT3 | c.1143C>T (p.Ile381=) c.783C>T (p.Ile261=) c.1407C>T (p.Ile469=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792284G>C | CA237258810 | KRT3 | c.1143C>G (p.Ile381Met) c.783C>G (p.Ile261Met) c.1407C>G (p.Ile469Met) | dbSNP gnomAD v4 |
12 | g.52792284G= | CA2036677425 | KRT3 | c.1143C= (p.Ile381=) c.783C= (p.Ile261=) c.1407C= (p.Ile469=) | |
12 | g.52792284G>T | CA479864305 | KRT3 | c.1143C>A (p.Ile381=) c.783C>A (p.Ile261=) c.1407C>A (p.Ile469=) | |
12 | g.52792285A>C | CA384972207 | KRT3 | c.1142T>G (p.Ile381Ser) c.782T>G (p.Ile261Ser) c.1406T>G (p.Ile469Ser) | |
12 | g.52792285A>G | CA384972209 | KRT3 | c.1142T>C (p.Ile381Thr) c.782T>C (p.Ile261Thr) c.1406T>C (p.Ile469Thr) | |
12 | g.52792285A>T | CA384972211 | KRT3 | c.1142T>A (p.Ile381Asn) c.782T>A (p.Ile261Asn) c.1406T>A (p.Ile469Asn) | |
12 | g.52792288_52792295del | CA2618960338 | KRT3 | c.1135_1142del (p.Glu379ArgfsTer9) c.775_782del (p.Glu259ArgfsTer9) c.1399_1406del (p.Glu467ArgfsTer9) | gnomAD v4 |
12 | g.52792286T>A | CA384972213 | KRT3 | c.1141A>T (p.Ile381Phe) c.781A>T (p.Ile261Phe) c.1405A>T (p.Ile469Phe) | |
12 | g.52792286T>C | CA6588009 | KRT3 | c.1141A>G (p.Ile381Val) c.781A>G (p.Ile261Val) c.1405A>G (p.Ile469Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52792286T>G | CA384972227 | KRT3 | c.1141A>C (p.Ile381Leu) c.781A>C (p.Ile261Leu) c.1405A>C (p.Ile469Leu) | |
12 | g.52792286T= | CA2036677428 | KRT3 | c.1141A= (p.Ile381=) c.781A= (p.Ile261=) c.1405A= (p.Ile469=) | |
12 | g.52792287A= | CA2036677430 | KRT3 | c.1140T= (p.Asp380=) c.780T= (p.Asp260=) c.1404T= (p.Asp468=) | |
12 | g.52792287A>C | CA384972233 | KRT3 | c.1140T>G (p.Asp380Glu) c.780T>G (p.Asp260Glu) c.1404T>G (p.Asp468Glu) | |
12 | g.52792287A>G | CA479864307 | KRT3 | c.1140T>C (p.Asp380=) c.780T>C (p.Asp260=) c.1404T>C (p.Asp468=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52792287A>T | CA384972237 | KRT3 | c.1140T>A (p.Asp380Glu) c.780T>A (p.Asp260Glu) c.1404T>A (p.Asp468Glu) | |
12 | g.52792288T>A | CA237258824 | KRT3 | c.1139A>T (p.Asp380Val) c.779A>T (p.Asp260Val) c.1403A>T (p.Asp468Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52792288T>C | CA384972258 | KRT3 | c.1139A>G (p.Asp380Gly) c.779A>G (p.Asp260Gly) c.1403A>G (p.Asp468Gly) | dbSNP |
12 | g.52792288T>G | CA384972245 | KRT3 | c.1139A>C (p.Asp380Ala) c.779A>C (p.Asp260Ala) c.1403A>C (p.Asp468Ala) | |
12 | g.52792288T= | CA2036677435 | KRT3 | c.1139A= (p.Asp380=) c.779A= (p.Asp260=) c.1403A= (p.Asp468=) | |
12 | g.52792289C>A | CA384972259 | KRT3 | c.1138G>T (p.Asp380Tyr) c.778G>T (p.Asp260Tyr) c.1402G>T (p.Asp468Tyr) | |
12 | g.52792289C= | CA2036677437 | KRT3 | c.1138G= (p.Asp380=) c.778G= (p.Asp260=) c.1402G= (p.Asp468=) | |
12 | g.52792289C>G | CA237258829 | KRT3 | c.1138G>C (p.Asp380His) c.778G>C (p.Asp260His) c.1402G>C (p.Asp468His) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52792289C>T | CA384972262 | KRT3 | c.1138G>A (p.Asp380Asn) c.778G>A (p.Asp260Asn) c.1402G>A (p.Asp468Asn) | |
12 | g.52792290C>A | CA384972266 | KRT3 | c.1137G>T (p.Glu379Asp) c.777G>T (p.Glu259Asp) c.1401G>T (p.Glu467Asp) | |
12 | g.52792290C= | CA2036677440 | KRT3 | c.1137G= (p.Glu379=) c.777G= (p.Glu259=) c.1401G= (p.Glu467=) | |
12 | g.52792290C>G | CA384972271 | KRT3 | c.1137G>C (p.Glu379Asp) c.777G>C (p.Glu259Asp) c.1401G>C (p.Glu467Asp) | |
12 | g.52792290C>T | CA6588010 | KRT3 | c.1137G>A (p.Glu379=) c.777G>A (p.Glu259=) c.1401G>A (p.Glu467=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52792291T>A | CA384972293 | KRT3 | c.1136A>T (p.Glu379Val) c.776A>T (p.Glu259Val) c.1400A>T (p.Glu467Val) | |
12 | g.52792291T>C | CA384972290 | KRT3 | c.1136A>G (p.Glu379Gly) c.776A>G (p.Glu259Gly) c.1400A>G (p.Glu467Gly) | |
12 | g.52792291T>G | CA384972291 | KRT3 | c.1136A>C (p.Glu379Ala) c.776A>C (p.Glu259Ala) c.1400A>C (p.Glu467Ala) | |
12 | g.52792292C>A | CA384972297 | KRT3 | c.1135G>T (p.Glu379Ter) c.775G>T (p.Glu259Ter) c.1399G>T (p.Glu467Ter) | |
12 | g.52792292C>G | CA384972304 | KRT3 | c.1135G>C (p.Glu379Gln) c.775G>C (p.Glu259Gln) c.1399G>C (p.Glu467Gln) | |
12 | g.52792292C>T | CA384972306 | KRT3 | c.1135G>A (p.Glu379Lys) c.775G>A (p.Glu259Lys) c.1399G>A (p.Glu467Lys) | |
12 | g.52792293A= | CA2036677443 | KRT3 | c.1134T= (p.Tyr378=) c.774T= (p.Tyr258=) c.1398T= (p.Tyr466=) | |
12 | g.52792293A>C | CA384972307 | KRT3 | c.1134T>G (p.Tyr378Ter) c.774T>G (p.Tyr258Ter) c.1398T>G (p.Tyr466Ter) | |
12 | g.52792293A>G | CA479864313 | KRT3 | c.1134T>C (p.Tyr378=) c.774T>C (p.Tyr258=) c.1398T>C (p.Tyr466=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52792293A>T | CA384972308 | KRT3 | c.1134T>A (p.Tyr378Ter) c.774T>A (p.Tyr258Ter) c.1398T>A (p.Tyr466Ter) | |
12 | g.52792294T>A | CA384972312 | KRT3 | c.1133A>T (p.Tyr378Phe) c.773A>T (p.Tyr258Phe) c.1397A>T (p.Tyr466Phe) | |
12 | g.52792294T>C | CA384972317 | KRT3 | c.1133A>G (p.Tyr378Cys) c.773A>G (p.Tyr258Cys) c.1397A>G (p.Tyr466Cys) | gnomAD v4 |
12 | g.52792294T>G | CA384972314 | KRT3 | c.1133A>C (p.Tyr378Ser) c.773A>C (p.Tyr258Ser) c.1397A>C (p.Tyr466Ser) | |
12 | g.52792295A= | CA2036677445 | KRT3 | c.1132T= (p.Tyr378=) c.772T= (p.Tyr258=) c.1396T= (p.Tyr466=) | |
12 | g.52792295A>C | CA384972323 | KRT3 | c.1132T>G (p.Tyr378Asp) c.772T>G (p.Tyr258Asp) c.1396T>G (p.Tyr466Asp) | |
12 | g.52792295A>G | CA6588011 | KRT3 | c.1132T>C (p.Tyr378His) c.772T>C (p.Tyr258His) c.1396T>C (p.Tyr466His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792295A>T | CA384972324 | KRT3 | c.1132T>A (p.Tyr378Asn) c.772T>A (p.Tyr258Asn) c.1396T>A (p.Tyr466Asn) | |
12 | g.52792296C>A | CA384972326 | KRT3 | c.1131G>T (p.Gln377His) c.771G>T (p.Gln257His) c.1395G>T (p.Gln465His) | |
12 | g.52792296C>G | CA384972330 | KRT3 | c.1131G>C (p.Gln377His) c.771G>C (p.Gln257His) c.1395G>C (p.Gln465His) | |
12 | g.52792296C>T | CA479864314 | KRT3 | c.1131G>A (p.Gln377=) c.771G>A (p.Gln257=) c.1395G>A (p.Gln465=) | gnomAD v4 COSMIC |
12 | g.52792297T>A | CA384972332 | KRT3 | c.1130A>T (p.Gln377Leu) c.770A>T (p.Gln257Leu) c.1394A>T (p.Gln465Leu) | gnomAD v4 COSMIC |
12 | g.52792297T>C | CA384972340 | KRT3 | c.1130A>G (p.Gln377Arg) c.770A>G (p.Gln257Arg) c.1394A>G (p.Gln465Arg) | |
12 | g.52792297T>G | CA384972344 | KRT3 | c.1130A>C (p.Gln377Pro) c.770A>C (p.Gln257Pro) c.1394A>C (p.Gln465Pro) | |
12 | g.52792298G>A | CA384972353 | KRT3 | c.1129C>T (p.Gln377Ter) c.769C>T (p.Gln257Ter) c.1393C>T (p.Gln465Ter) | |
12 | g.52792298G>C | CA384972359 | KRT3 | c.1129C>G (p.Gln377Glu) c.769C>G (p.Gln257Glu) c.1393C>G (p.Gln465Glu) | gnomAD v4 |
12 | g.52792298G= | CA2036677448 | KRT3 | c.1129C= (p.Gln377=) c.769C= (p.Gln257=) c.1393C= (p.Gln465=) | |
12 | g.52792298G>T | CA384972360 | KRT3 | c.1129C>A (p.Gln377Lys) c.769C>A (p.Gln257Lys) c.1393C>A (p.Gln465Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52792299T>A | CA479864316 | KRT3 | c.1128A>T (p.Ala376=) c.768A>T (p.Ala256=) c.1392A>T (p.Ala464=) | gnomAD v4 |
12 | g.52792299T>C | CA479864317 | KRT3 | c.1128A>G (p.Ala376=) c.768A>G (p.Ala256=) c.1392A>G (p.Ala464=) | gnomAD v4 |
12 | g.52792299T>G | CA479864318 | KRT3 | c.1128A>C (p.Ala376=) c.768A>C (p.Ala256=) c.1392A>C (p.Ala464=) | |
12 | g.52792300G>A | CA384972368 | KRT3 | c.1127C>T (p.Ala376Val) c.767C>T (p.Ala256Val) c.1391C>T (p.Ala464Val) | gnomAD v4 |
12 | g.52792300G>C | CA384972361 | KRT3 | c.1127C>G (p.Ala376Gly) c.767C>G (p.Ala256Gly) c.1391C>G (p.Ala464Gly) | |
12 | g.52792300G>T | CA384972364 | KRT3 | c.1127C>A (p.Ala376Glu) c.767C>A (p.Ala256Glu) c.1391C>A (p.Ala464Glu) | |
12 | g.52792301C>A | CA384972371 | KRT3 | c.1126G>T (p.Ala376Ser) c.766G>T (p.Ala256Ser) c.1390G>T (p.Ala464Ser) | |
12 | g.52792301C>G | CA384972375 | KRT3 | c.1126G>C (p.Ala376Pro) c.766G>C (p.Ala256Pro) c.1390G>C (p.Ala464Pro) | |
12 | g.52792301C>T | CA384972373 | KRT3 | c.1126G>A (p.Ala376Thr) c.766G>A (p.Ala256Thr) c.1390G>A (p.Ala464Thr) | gnomAD v4 |
12 | g.52792302A>C | CA479864319 | KRT3 | c.1125T>G (p.Arg375=) c.765T>G (p.Arg255=) c.1389T>G (p.Arg463=) | |
12 | g.52792302A>G | CA479864320 | KRT3 | c.1125T>C (p.Arg375=) c.765T>C (p.Arg255=) c.1389T>C (p.Arg463=) | |
12 | g.52792302A>T | CA479864321 | KRT3 | c.1125T>A (p.Arg375=) c.765T>A (p.Arg255=) c.1389T>A (p.Arg463=) | |
12 | g.52792303C>A | CA384972376 | KRT3 | c.1124G>T (p.Arg375Leu) c.764G>T (p.Arg255Leu) c.1388G>T (p.Arg463Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792303C= | CA2036677451 | KRT3 | c.1124G= (p.Arg375=) c.764G= (p.Arg255=) c.1388G= (p.Arg463=) | |
12 | g.52792303C>G | CA384972377 | KRT3 | c.1124G>C (p.Arg375Pro) c.764G>C (p.Arg255Pro) c.1388G>C (p.Arg463Pro) | gnomAD v4 |
12 | g.52792303C>T | CA384972383 | KRT3 | c.1124G>A (p.Arg375His) c.764G>A (p.Arg255His) c.1388G>A (p.Arg463His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792304G>A | CA6588013 | KRT3 | c.1123C>T (p.Arg375Cys) c.763C>T (p.Arg255Cys) c.1387C>T (p.Arg463Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792304G>C | CA6588012 | KRT3 | c.1123C>G (p.Arg375Gly) c.763C>G (p.Arg255Gly) c.1387C>G (p.Arg463Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52792304G= | CA2036677455 | KRT3 | c.1123C= (p.Arg375=) c.763C= (p.Arg255=) c.1387C= (p.Arg463=) | |
12 | g.52792304G>T | CA384972406 | KRT3 | c.1123C>A (p.Arg375Ser) c.763C>A (p.Arg255Ser) c.1387C>A (p.Arg463Ser) | dbSNP |