Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113149220C>A | CA388793451 | F10 | c.1170C>A (p.Cys390Ter) c.*161C>A (n.*161C>A) c.1038C>A (p.Cys346Ter) | |
13 | g.113149220C>G | CA388793456 | F10 | c.1170C>G (p.Cys390Trp) c.*161C>G (n.*161C>G) c.1038C>G (p.Cys346Trp) | |
13 | g.113149220C>T | CA485424208 | F10 | c.1170C>T (p.Cys390=) c.*161C>T (n.*161C>T) c.1038C>T (p.Cys346=) | |
13 | g.113149221A>C | CA388793458 | F10 | c.1171A>C (p.Lys391Gln) c.*162A>C (n.*162A>C) c.1039A>C (p.Lys347Gln) | |
13 | g.113149221A>G | CA388793461 | F10 | c.1171A>G (p.Lys391Glu) c.*162A>G (n.*162A>G) c.1039A>G (p.Lys347Glu) | |
13 | g.113149221A>T | CA388793462 | F10 | c.1171A>T (p.Lys391Ter) c.*162A>T (n.*162A>T) c.1039A>T (p.Lys347Ter) | |
13 | g.113149222A>C | CA388793465 | F10 | c.1172A>C (p.Lys391Thr) c.*163A>C (n.*163A>C) c.1040A>C (p.Lys347Thr) | |
13 | g.113149222A>G | CA388793468 | F10 | c.1172A>G (p.Lys391Arg) c.*163A>G (n.*163A>G) c.1040A>G (p.Lys347Arg) | |
13 | g.113149222A>T | CA388793471 | F10 | c.1172A>T (p.Lys391Met) c.*163A>T (n.*163A>T) c.1040A>T (p.Lys347Met) | |
13 | g.113149223G>A | CA485424210 | F10 | c.1173G>A (p.Lys391=) c.*164G>A (n.*164G>A) c.1041G>A (p.Lys347=) | |
13 | g.113149223G>C | CA388793476 | F10 | c.1173G>C (p.Lys391Asn) c.*164G>C (n.*164G>C) c.1041G>C (p.Lys347Asn) | |
13 | g.113149223G>T | CA388793474 | F10 | c.1173G>T (p.Lys391Asn) c.*164G>T (n.*164G>T) c.1041G>T (p.Lys347Asn) | |
13 | g.113149224C>A | CA388793479 | F10 | c.1174C>A (p.Leu392Met) c.*165C>A (n.*165C>A) c.1042C>A (p.Leu348Met) | |
13 | g.113149224C>G | CA388793481 | F10 | c.1174C>G (p.Leu392Val) c.*165C>G (n.*165C>G) c.1042C>G (p.Leu348Val) | |
13 | g.113149224C>T | CA485424211 | F10 | c.1174C>T (p.Leu392=) c.*165C>T (n.*165C>T) c.1042C>T (p.Leu348=) | |
13 | g.113149225T>A | CA388793484 | F10 | c.1175T>A (p.Leu392Gln) c.*166T>A (n.*166T>A) c.1043T>A (p.Leu348Gln) | |
13 | g.113149225T>C | CA388793487 | F10 | c.1175T>C (p.Leu392Pro) c.*166T>C (n.*166T>C) c.1043T>C (p.Leu348Pro) | |
13 | g.113149225T>G | CA388793489 | F10 | c.1175T>G (p.Leu392Arg) c.*166T>G (n.*166T>G) c.1043T>G (p.Leu348Arg) | |
13 | g.113149226G>A | CA485424221 | F10 | c.1176G>A (p.Leu392=) c.*167G>A (n.*167G>A) c.1044G>A (p.Leu348=) | |
13 | g.113149226G>C | CA485424224 | F10 | c.1176G>C (p.Leu392=) c.*167G>C (n.*167G>C) c.1044G>C (p.Leu348=) | |
13 | g.113149226G>T | CA485424226 | F10 | c.1176G>T (p.Leu392=) c.*167G>T (n.*167G>T) c.1044G>T (p.Leu348=) | |
13 | g.113149227T>A | CA388793495 | F10 | c.1177T>A (p.Ser393Thr) c.*168T>A (n.*168T>A) c.1045T>A (p.Ser349Thr) | |
13 | g.113149227T>C | CA388793493 | F10 | c.1177T>C (p.Ser393Pro) c.*168T>C (n.*168T>C) c.1045T>C (p.Ser349Pro) | |
13 | g.113149227T>G | CA388793491 | F10 | c.1177T>G (p.Ser393Ala) c.*168T>G (n.*168T>G) c.1045T>G (p.Ser349Ala) | |
13 | g.113149228C>A | CA388793498 | F10 | c.1178C>A (p.Ser393Tyr) c.*169C>A (n.*169C>A) c.1046C>A (p.Ser349Tyr) | |
13 | g.113149228C>G | CA388793499 | F10 | c.1178C>G (p.Ser393Cys) c.*169C>G (n.*169C>G) c.1046C>G (p.Ser349Cys) | |
13 | g.113149228C>T | CA388793501 | F10 | c.1178C>T (p.Ser393Phe) c.*169C>T (n.*169C>T) c.1046C>T (p.Ser349Phe) | |
13 | g.113149229C>A | CA485424242 | F10 | c.1179C>A (p.Ser393=) c.*170C>A (n.*170C>A) c.1047C>A (p.Ser349=) | |
13 | g.113149229C>G | CA485424244 | F10 | c.1179C>G (p.Ser393=) c.*170C>G (n.*170C>G) c.1047C>G (p.Ser349=) | |
13 | g.113149229C>T | CA485424247 | F10 | c.1179C>T (p.Ser393=) c.*170C>T (n.*170C>T) c.1047C>T (p.Ser349=) | |
13 | g.113149230A>C | CA388793505 | F10 | c.1180A>C (p.Ser394Arg) c.*171A>C (n.*171A>C) c.1048A>C (p.Ser350Arg) | gnomAD v4 |
13 | g.113149230A>G | CA388793507 | F10 | c.1180A>G (p.Ser394Gly) c.*171A>G (n.*171A>G) c.1048A>G (p.Ser350Gly) | |
13 | g.113149230A>T | CA388793508 | F10 | c.1180A>T (p.Ser394Cys) c.*171A>T (n.*171A>T) c.1048A>T (p.Ser350Cys) | |
13 | g.113149231G>A | CA388793516 | F10 | c.1181G>A (p.Ser394Asn) c.*172G>A (n.*172G>A) c.1049G>A (p.Ser350Asn) | |
13 | g.113149231G>C | CA388793512 | F10 | c.1181G>C (p.Ser394Thr) c.*172G>C (n.*172G>C) c.1049G>C (p.Ser350Thr) | |
13 | g.113149231G>T | CA388793515 | F10 | c.1181G>T (p.Ser394Ile) c.*172G>T (n.*172G>T) c.1049G>T (p.Ser350Ile) | |
13 | g.113149232C>A | CA388793519 | F10 | c.1182C>A (p.Ser394Arg) c.*173C>A (n.*173C>A) c.1050C>A (p.Ser350Arg) | |
13 | g.113149232C>G | CA388793522 | F10 | c.1182C>G (p.Ser394Arg) c.*173C>G (n.*173C>G) c.1050C>G (p.Ser350Arg) | |
13 | g.113149232C>T | CA485424264 | F10 | c.1182C>T (p.Ser394=) c.*173C>T (n.*173C>T) c.1050C>T (p.Ser350=) | |
13 | g.113149233A>C | CA388793523 | F10 | c.1183A>C (p.Ser395Arg) c.*174A>C (n.*174A>C) c.1051A>C (p.Ser351Arg) | |
13 | g.113149233A>G | CA388793524 | F10 | c.1183A>G (p.Ser395Gly) c.*174A>G (n.*174A>G) c.1051A>G (p.Ser351Gly) | |
13 | g.113149233A>T | CA388793525 | F10 | c.1183A>T (p.Ser395Cys) c.*174A>T (n.*174A>T) c.1051A>T (p.Ser351Cys) | |
13 | g.113149234G>A | CA388793527 | F10 | c.1184G>A (p.Ser395Asn) c.*175G>A (n.*175G>A) c.1052G>A (p.Ser351Asn) | |
13 | g.113149234G>C | CA388793530 | F10 | c.1184G>C (p.Ser395Thr) c.*175G>C (n.*175G>C) c.1052G>C (p.Ser351Thr) | |
13 | g.113149234G>T | CA388793532 | F10 | c.1184G>T (p.Ser395Ile) c.*175G>T (n.*175G>T) c.1052G>T (p.Ser351Ile) | |
13 | g.113149235C>A | CA388793534 | F10 | c.1185C>A (p.Ser395Arg) c.*176C>A (n.*176C>A) c.1053C>A (p.Ser351Arg) | |
13 | g.113149235C>G | CA388793537 | F10 | c.1185C>G (p.Ser395Arg) c.*176C>G (n.*176C>G) c.1053C>G (p.Ser351Arg) | |
13 | g.113149235C>T | CA485424282 | F10 | c.1185C>T (p.Ser395=) c.*176C>T (n.*176C>T) c.1053C>T (p.Ser351=) | gnomAD v4 |
13 | g.113149236T>A | CA388793539 | F10 | c.1186T>A (p.Phe396Ile) c.*177T>A (n.*177T>A) c.1054T>A (p.Phe352Ile) | |
13 | g.113149236T>C | CA388793540 | F10 | c.1186T>C (p.Phe396Leu) c.*177T>C (n.*177T>C) c.1054T>C (p.Phe352Leu) | |
13 | g.113149236T>G | CA388793542 | F10 | c.1186T>G (p.Phe396Val) c.*177T>G (n.*177T>G) c.1054T>G (p.Phe352Val) | |
13 | g.113149237T>A | CA388793552 | F10 | c.1187T>A (p.Phe396Tyr) c.*178T>A (n.*178T>A) c.1055T>A (p.Phe352Tyr) | |
13 | g.113149237T>C | CA388793547 | F10 | c.1187T>C (p.Phe396Ser) c.*178T>C (n.*178T>C) c.1055T>C (p.Phe352Ser) | |
13 | g.113149237T>G | CA388793550 | F10 | c.1187T>G (p.Phe396Cys) c.*178T>G (n.*178T>G) c.1055T>G (p.Phe352Cys) | |
13 | g.113149238C>A | CA388793553 | F10 | c.1188C>A (p.Phe396Leu) c.*179C>A (n.*179C>A) c.1056C>A (p.Phe352Leu) | |
13 | g.113149238C>G | CA388793554 | F10 | c.1188C>G (p.Phe396Leu) c.*179C>G (n.*179C>G) c.1056C>G (p.Phe352Leu) | |
13 | g.113149238C>T | CA485424302 | F10 | c.1188C>T (p.Phe396=) c.*179C>T (n.*179C>T) c.1056C>T (p.Phe352=) | |
13 | g.113149239A= | CA2120140336 | F10 | c.1189A= (p.Ile397=) c.*180A= (n.*180A=) c.1057A= (p.Ile353=) | |
13 | g.113149239A>C | CA388793557 | F10 | c.1189A>C (p.Ile397Leu) c.*180A>C (n.*180A>C) c.1057A>C (p.Ile353Leu) | |
13 | g.113149239A>G | CA256478714 | F10 | c.1189A>G (p.Ile397Val) c.*180A>G (n.*180A>G) c.1057A>G (p.Ile353Val) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149239A>T | CA388793561 | F10 | c.1189A>T (p.Ile397Phe) c.*180A>T (n.*180A>T) c.1057A>T (p.Ile353Phe) | |
13 | g.113149240T>A | CA388793564 | F10 | c.1190T>A (p.Ile397Asn) c.*181T>A (n.*181T>A) c.1058T>A (p.Ile353Asn) | |
13 | g.113149240T>C | CA388793567 | F10 | c.1190T>C (p.Ile397Thr) c.*181T>C (n.*181T>C) c.1058T>C (p.Ile353Thr) | |
13 | g.113149240T>G | CA388793570 | F10 | c.1190T>G (p.Ile397Ser) c.*181T>G (n.*181T>G) c.1058T>G (p.Ile353Ser) | |
13 | g.113149241C>A | CA485424316 | F10 | c.1191C>A (p.Ile397=) c.*182C>A (n.*182C>A) c.1059C>A (p.Ile353=) | |
13 | g.113149241C>G | CA388793572 | F10 | c.1191C>G (p.Ile397Met) c.*182C>G (n.*182C>G) c.1059C>G (p.Ile353Met) | |
13 | g.113149241C>T | CA485424320 | F10 | c.1191C>T (p.Ile397=) c.*182C>T (n.*182C>T) c.1059C>T (p.Ile353=) | |
13 | g.113149242A= | CA2120140338 | F10 | c.1192A= (p.Ile398=) c.*183A= (n.*183A=) c.1060A= (p.Ile354=) | |
13 | g.113149242A>C | CA388793575 | F10 | c.1192A>C (p.Ile398Leu) c.*183A>C (n.*183A>C) c.1060A>C (p.Ile354Leu) | |
13 | g.113149242A>G | CA388793576 | F10 | c.1192A>G (p.Ile398Val) c.*183A>G (n.*183A>G) c.1060A>G (p.Ile354Val) | dbSNP |
13 | g.113149242A>T | CA388793578 | F10 | c.1192A>T (p.Ile398Phe) c.*183A>T (n.*183A>T) c.1060A>T (p.Ile354Phe) | |
13 | g.113149243T>A | CA388793584 | F10 | c.1193T>A (p.Ile398Asn) c.*184T>A (n.*184T>A) c.1061T>A (p.Ile354Asn) | |
13 | g.113149243T>C | CA388793583 | F10 | c.1193T>C (p.Ile398Thr) c.*184T>C (n.*184T>C) c.1061T>C (p.Ile354Thr) | gnomAD v4 |
13 | g.113149243T>G | CA388793580 | F10 | c.1193T>G (p.Ile398Ser) c.*184T>G (n.*184T>G) c.1061T>G (p.Ile354Ser) | |
13 | g.113149244C>A | CA485424336 | F10 | c.1194C>A (p.Ile398=) c.*185C>A (n.*185C>A) c.1062C>A (p.Ile354=) | |
13 | g.113149244C>G | CA388793587 | F10 | c.1194C>G (p.Ile398Met) c.*185C>G (n.*185C>G) c.1062C>G (p.Ile354Met) | |
13 | g.113149244C>T | CA485424338 | F10 | c.1194C>T (p.Ile398=) c.*185C>T (n.*185C>T) c.1062C>T (p.Ile354=) | gnomAD v4 |
13 | g.113149245A>C | CA388793591 | F10 | c.1195A>C (p.Thr399Pro) c.*186A>C (n.*186A>C) c.1063A>C (p.Thr355Pro) | |
13 | g.113149245A>G | CA388793593 | F10 | c.1195A>G (p.Thr399Ala) c.*186A>G (n.*186A>G) c.1063A>G (p.Thr355Ala) | |
13 | g.113149245A>T | CA388793595 | F10 | c.1195A>T (p.Thr399Ser) c.*186A>T (n.*186A>T) c.1063A>T (p.Thr355Ser) | |
13 | g.113149246C>A | CA388793599 | F10 | c.1196C>A (p.Thr399Asn) c.*187C>A (n.*187C>A) c.1064C>A (p.Thr355Asn) | |
13 | g.113149246C= | CA2120140341 | F10 | c.1196C= (p.Thr399=) c.*187C= (n.*187C=) c.1064C= (p.Thr355=) | |
13 | g.113149246C>G | CA388793600 | F10 | c.1196C>G (p.Thr399Ser) c.*187C>G (n.*187C>G) c.1064C>G (p.Thr355Ser) | |
13 | g.113149246C>T | CA388793601 | F10 | c.1196C>T (p.Thr399Ile) c.*187C>T (n.*187C>T) c.1064C>T (p.Thr355Ile) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149247C>A | CA485424353 | F10 | c.1197C>A (p.Thr399=) c.*188C>A (n.*188C>A) c.1065C>A (p.Thr355=) | |
13 | g.113149247C>G | CA485424356 | F10 | c.1197C>G (p.Thr399=) c.*188C>G (n.*188C>G) c.1065C>G (p.Thr355=) | |
13 | g.113149247C>T | CA485424358 | F10 | c.1197C>T (p.Thr399=) c.*188C>T (n.*188C>T) c.1065C>T (p.Thr355=) | COSMIC |
13 | g.113149248C>A | CA388793603 | F10 | c.1198C>A (p.Gln400Lys) c.*189C>A (n.*189C>A) c.1066C>A (p.Gln356Lys) | |
13 | g.113149248C>G | CA388793605 | F10 | c.1198C>G (p.Gln400Glu) c.*189C>G (n.*189C>G) c.1066C>G (p.Gln356Glu) | |
13 | g.113149248C>T | CA388793608 | F10 | c.1198C>T (p.Gln400Ter) c.*189C>T (n.*189C>T) c.1066C>T (p.Gln356Ter) | |
13 | g.113149249A= | CA2120140342 | F10 | c.1199A= (p.Gln400=) c.*190A= (n.*190A=) c.1067A= (p.Gln356=) | |
13 | g.113149249A>C | CA388793611 | F10 | c.1199A>C (p.Gln400Pro) c.*190A>C (n.*190A>C) c.1067A>C (p.Gln356Pro) | dbSNP |
13 | g.113149249A>G | CA388793612 | F10 | c.1199A>G (p.Gln400Arg) c.*190A>G (n.*190A>G) c.1067A>G (p.Gln356Arg) | |
13 | g.113149249A>T | CA388793615 | F10 | c.1199A>T (p.Gln400Leu) c.*190A>T (n.*190A>T) c.1067A>T (p.Gln356Leu) | |
13 | g.113149249_113149250insC | CA2800665322 | F10 | c.1199_1200insC (p.Gln400HisfsTer?) c.*190_*191insC (n.*190_*191insC) c.1067_1068insC (p.Gln356HisfsTer?) | |
13 | g.113149250G>A | CA7060701 | F10 | c.1200G>A (p.Gln400=) c.*191G>A (n.*191G>A) c.1068G>A (p.Gln356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149250G>C | CA388793622 | F10 | c.1200G>C (p.Gln400His) c.*191G>C (n.*191G>C) c.1068G>C (p.Gln356His) | gnomAD v4 |
13 | g.113149250G= | CA2120140344 | F10 | c.1200G= (p.Gln400=) c.*191G= (n.*191G=) c.1068G= (p.Gln356=) | |
13 | g.113149250G>T | CA388793618 | F10 | c.1200G>T (p.Gln400His) c.*191G>T (n.*191G>T) c.1068G>T (p.Gln356His) | |
13 | g.113149251A>C | CA388793623 | F10 | c.1201A>C (p.Asn401His) c.*192A>C (n.*192A>C) c.1069A>C (p.Asn357His) | |
13 | g.113149251A>G | CA388793627 | F10 | c.1201A>G (p.Asn401Asp) c.*192A>G (n.*192A>G) c.1069A>G (p.Asn357Asp) | |
13 | g.113149251A>T | CA388793624 | F10 | c.1201A>T (p.Asn401Tyr) c.*192A>T (n.*192A>T) c.1069A>T (p.Asn357Tyr) | |
13 | g.113149252A>C | CA388793629 | F10 | c.1202A>C (p.Asn401Thr) c.*193A>C (n.*193A>C) c.1070A>C (p.Asn357Thr) | |
13 | g.113149252A>G | CA388793633 | F10 | c.1202A>G (p.Asn401Ser) c.*193A>G (n.*193A>G) c.1070A>G (p.Asn357Ser) | |
13 | g.113149252A>T | CA388793631 | F10 | c.1202A>T (p.Asn401Ile) c.*193A>T (n.*193A>T) c.1070A>T (p.Asn357Ile) | |
13 | g.113149252_113149253insACACACCCAACA | CA2800665324 | F10 | c.1202_1203insACACACCCAACA (p.Asn401delinsLysHisThrGlnHis) c.*193_*194insACACACCCAACA (n.*193_*194insACACACCCAACA) c.1070_1071insACACACCCAACA (p.Asn357delinsLysHisThrGlnHis) | |
13 | g.113149253C>A | CA388793635 | F10 | c.1203C>A (p.Asn401Lys) c.*194C>A (n.*194C>A) c.1071C>A (p.Asn357Lys) | |
13 | g.113149253C= | CA2120140347 | F10 | c.1203C= (p.Asn401=) c.*194C= (n.*194C=) c.1071C= (p.Asn357=) | |
13 | g.113149253C>G | CA388793637 | F10 | c.1203C>G (p.Asn401Lys) c.*194C>G (n.*194C>G) c.1071C>G (p.Asn357Lys) | |
13 | g.113149253C>T | CA256478716 | F10 | c.1203C>T (p.Asn401=) c.*194C>T (n.*194C>T) c.1071C>T (p.Asn357=) | dbSNP gnomAD v4 |
13 | g.113149254A= | CA2120140349 | F10 | c.1204A= (p.Met402=) c.*195A= (n.*195A=) c.1072A= (p.Met358=) | |
13 | g.113149254A>C | CA388793639 | F10 | c.1204A>C (p.Met402Leu) c.*195A>C (n.*195A>C) c.1072A>C (p.Met358Leu) | |
13 | g.113149254A>G | CA7060702 | F10 | c.1204A>G (p.Met402Val) c.*195A>G (n.*195A>G) c.1072A>G (p.Met358Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149254A>T | CA388793642 | F10 | c.1204A>T (p.Met402Leu) c.*195A>T (n.*195A>T) c.1072A>T (p.Met358Leu) | |
13 | g.113149255T>A | CA388793645 | F10 | c.1205T>A (p.Met402Lys) c.*196T>A (n.*196T>A) c.1073T>A (p.Met358Lys) | |
13 | g.113149255T>C | CA388793647 | F10 | c.1205T>C (p.Met402Thr) c.*196T>C (n.*196T>C) c.1073T>C (p.Met358Thr) | |
13 | g.113149255T>G | CA388793650 | F10 | c.1205T>G (p.Met402Arg) c.*196T>G (n.*196T>G) c.1073T>G (p.Met358Arg) | |
13 | g.113149256G>A | CA388793654 | F10 | c.1206G>A (p.Met402Ile) c.*197G>A (n.*197G>A) c.1074G>A (p.Met358Ile) | COSMIC |
13 | g.113149256G>C | CA388793657 | F10 | c.1206G>C (p.Met402Ile) c.*197G>C (n.*197G>C) c.1074G>C (p.Met358Ile) | |
13 | g.113149256G>T | CA388793659 | F10 | c.1206G>T (p.Met402Ile) c.*197G>T (n.*197G>T) c.1074G>T (p.Met358Ile) | |
13 | g.113149257T>A | CA388793664 | F10 | c.1207T>A (p.Phe403Ile) c.*198T>A (n.*198T>A) c.1075T>A (p.Phe359Ile) | |
13 | g.113149257T>C | CA388793667 | F10 | c.1207T>C (p.Phe403Leu) c.*198T>C (n.*198T>C) c.1075T>C (p.Phe359Leu) | |
13 | g.113149257T>G | CA388793665 | F10 | c.1207T>G (p.Phe403Val) c.*198T>G (n.*198T>G) c.1075T>G (p.Phe359Val) | |
13 | g.113149258T>A | CA388793670 | F10 | c.1208T>A (p.Phe403Tyr) c.*199T>A (n.*199T>A) c.1076T>A (p.Phe359Tyr) | |
13 | g.113149258T>C | CA388793673 | F10 | c.1208T>C (p.Phe403Ser) c.*199T>C (n.*199T>C) c.1076T>C (p.Phe359Ser) | |
13 | g.113149258T>G | CA388793675 | F10 | c.1208T>G (p.Phe403Cys) c.*199T>G (n.*199T>G) c.1076T>G (p.Phe359Cys) | |
13 | g.113149259C>A | CA388793678 | F10 | c.1209C>A (p.Phe403Leu) c.*200C>A (n.*200C>A) c.1077C>A (p.Phe359Leu) | |
13 | g.113149259C= | CA2120140351 | F10 | c.1209C= (p.Phe403=) c.*200C= (n.*200C=) c.1077C= (p.Phe359=) | |
13 | g.113149259C>G | CA388793679 | F10 | c.1209C>G (p.Phe403Leu) c.*200C>G (n.*200C>G) c.1077C>G (p.Phe359Leu) | |
13 | g.113149259C>T | CA7060703 | F10 | c.1209C>T (p.Phe403=) c.*200C>T (n.*200C>T) c.1077C>T (p.Phe359=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149260T>A | CA388793683 | F10 | c.1210T>A (p.Cys404Ser) c.*201T>A (n.*201T>A) c.1078T>A (p.Cys360Ser) | |
13 | g.113149260T>C | CA388793686 | F10 | c.1210T>C (p.Cys404Arg) c.*201T>C (n.*201T>C) c.1078T>C (p.Cys360Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.113149260T>G | CA388793689 | F10 | c.1210T>G (p.Cys404Gly) c.*201T>G (n.*201T>G) c.1078T>G (p.Cys360Gly) | |
13 | g.113149260T= | CA2120140354 | F10 | c.1210T= (p.Cys404=) c.*201T= (n.*201T=) c.1078T= (p.Cys360=) | |
13 | g.113149261G>A | CA388793694 | F10 | c.1211G>A (p.Cys404Tyr) c.*202G>A (n.*202G>A) c.1079G>A (p.Cys360Tyr) | |
13 | g.113149261G>C | CA388793697 | F10 | c.1211G>C (p.Cys404Ser) c.*202G>C (n.*202G>C) c.1079G>C (p.Cys360Ser) | |
13 | g.113149261G= | CA2120140359 | F10 | c.1211G= (p.Cys404=) c.*202G= (n.*202G=) c.1079G= (p.Cys360=) | |
13 | g.113149261G>T | CA388793691 | F10 | c.1211G>T (p.Cys404Phe) c.*202G>T (n.*202G>T) c.1079G>T (p.Cys360Phe) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149262T>A | CA388793700 | F10 | c.1212T>A (p.Cys404Ter) c.*203T>A (n.*203T>A) c.1080T>A (p.Cys360Ter) | |
13 | g.113149262T>C | CA485424085 | F10 | c.1212T>C (p.Cys404=) c.*203T>C (n.*203T>C) c.1080T>C (p.Cys360=) | |
13 | g.113149262T>G | CA388793701 | F10 | c.1212T>G (p.Cys404Trp) c.*203T>G (n.*203T>G) c.1080T>G (p.Cys360Trp) | |
13 | g.113149263G>A | CA388793705 | F10 | c.1213G>A (p.Ala405Thr) c.*204G>A (n.*204G>A) c.1081G>A (p.Ala361Thr) | gnomAD v4 |
13 | g.113149263G>C | CA388793707 | F10 | c.1213G>C (p.Ala405Pro) c.*204G>C (n.*204G>C) c.1081G>C (p.Ala361Pro) | |
13 | g.113149263G>T | CA388793710 | F10 | c.1213G>T (p.Ala405Ser) c.*204G>T (n.*204G>T) c.1081G>T (p.Ala361Ser) | |
13 | g.113149264C>A | CA388793712 | F10 | c.1214C>A (p.Ala405Asp) c.*205C>A (n.*205C>A) c.1082C>A (p.Ala361Asp) | |
13 | g.113149264C>G | CA388793715 | F10 | c.1214C>G (p.Ala405Gly) c.*205C>G (n.*205C>G) c.1082C>G (p.Ala361Gly) | |
13 | g.113149264C>T | CA388793718 | F10 | c.1214C>T (p.Ala405Val) c.*205C>T (n.*205C>T) c.1082C>T (p.Ala361Val) | |
13 | g.113149265C>A | CA485424087 | F10 | c.1215C>A (p.Ala405=) c.*206C>A (n.*206C>A) c.1083C>A (p.Ala361=) | |
13 | g.113149265C= | CA2120140363 | F10 | c.1215C= (p.Ala405=) c.*206C= (n.*206C=) c.1083C= (p.Ala361=) | |
13 | g.113149265C>G | CA485424086 | F10 | c.1215C>G (p.Ala405=) c.*206C>G (n.*206C>G) c.1083C>G (p.Ala361=) | dbSNP |
13 | g.113149265C>T | CA7060704 | F10 | c.1215C>T (p.Ala405=) c.*206C>T (n.*206C>T) c.1083C>T (p.Ala361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149266G>A | CA7060705 | F10 | c.1216G>A (p.Gly406Ser) c.*207G>A (n.*207G>A) c.1084G>A (p.Gly362Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149266G>C | CA256478720 | F10 | c.1216G>C (p.Gly406Arg) c.*207G>C (n.*207G>C) c.1084G>C (p.Gly362Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149266G= | CA2120140367 | F10 | c.1216G= (p.Gly406=) c.*207G= (n.*207G=) c.1084G= (p.Gly362=) | |
13 | g.113149266G>T | CA388793723 | F10 | c.1216G>T (p.Gly406Cys) c.*207G>T (n.*207G>T) c.1084G>T (p.Gly362Cys) | gnomAD v4 |
13 | g.113149267G>A | CA388793731 | F10 | c.1217G>A (p.Gly406Asp) c.*208G>A (n.*208G>A) c.1085G>A (p.Gly362Asp) | |
13 | g.113149267G>C | CA388793726 | F10 | c.1217G>C (p.Gly406Ala) c.*208G>C (n.*208G>C) c.1085G>C (p.Gly362Ala) | |
13 | g.113149267G>T | CA388793728 | F10 | c.1217G>T (p.Gly406Val) c.*208G>T (n.*208G>T) c.1085G>T (p.Gly362Val) | |
13 | g.113149268C>A | CA485424088 | F10 | c.1218C>A (p.Gly406=) c.*209C>A (n.*209C>A) c.1086C>A (p.Gly362=) | |
13 | g.113149268C>G | CA485424089 | F10 | c.1218C>G (p.Gly406=) c.*209C>G (n.*209C>G) c.1086C>G (p.Gly362=) | |
13 | g.113149268C>T | CA485424090 | F10 | c.1218C>T (p.Gly406=) c.*209C>T (n.*209C>T) c.1086C>T (p.Gly362=) | |
13 | g.113149269T>A | CA388793733 | F10 | c.1219T>A (p.Tyr407Asn) c.*210T>A (n.*210T>A) c.1087T>A (p.Tyr363Asn) | |
13 | g.113149269T>C | CA388793734 | F10 | c.1219T>C (p.Tyr407His) c.*210T>C (n.*210T>C) c.1087T>C (p.Tyr363His) | |
13 | g.113149269T>G | CA388793738 | F10 | c.1219T>G (p.Tyr407Asp) c.*210T>G (n.*210T>G) c.1087T>G (p.Tyr363Asp) | |
13 | g.113149270A>C | CA388793741 | F10 | c.1220A>C (p.Tyr407Ser) c.*211A>C (n.*211A>C) c.1088A>C (p.Tyr363Ser) | |
13 | g.113149270A>G | CA388793744 | F10 | c.1220A>G (p.Tyr407Cys) c.*211A>G (n.*211A>G) c.1088A>G (p.Tyr363Cys) | |
13 | g.113149270A>T | CA388793745 | F10 | c.1220A>T (p.Tyr407Phe) c.*211A>T (n.*211A>T) c.1088A>T (p.Tyr363Phe) | |
13 | g.113149272_113149274del | CA915940388 | F10 | c.1222_1224del (p.Asp408del) c.*213_*215del (n.*213_*215del) c.1090_1092del (p.Asp364del) | |
13 | g.113149271C>A | CA388793748 | F10 | c.1221C>A (p.Tyr407Ter) c.*212C>A (n.*212C>A) c.1089C>A (p.Tyr363Ter) | |
13 | g.113149271C= | CA2120140370 | F10 | c.1221C= (p.Tyr407=) c.*212C= (n.*212C=) c.1089C= (p.Tyr363=) | |
13 | g.113149271C>G | CA388793750 | F10 | c.1221C>G (p.Tyr407Ter) c.*212C>G (n.*212C>G) c.1089C>G (p.Tyr363Ter) | |
13 | g.113149271C>T | CA7060706 | F10 | c.1221C>T (p.Tyr407=) c.*212C>T (n.*212C>T) c.1089C>T (p.Tyr363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149272G>A | CA7060707 | F10 | c.1222G>A (p.Asp408Asn) c.*213G>A (n.*213G>A) c.1090G>A (p.Asp364Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149272G>C | CA388793757 | F10 | c.1222G>C (p.Asp408His) c.*213G>C (n.*213G>C) c.1090G>C (p.Asp364His) | gnomAD v4 |
13 | g.113149272G= | CA2120140375 | F10 | c.1222G= (p.Asp408=) c.*213G= (n.*213G=) c.1090G= (p.Asp364=) | |
13 | g.113149272G>T | CA388793760 | F10 | c.1222G>T (p.Asp408Tyr) c.*213G>T (n.*213G>T) c.1090G>T (p.Asp364Tyr) | |
13 | g.113149273A= | CA2120140381 | F10 | c.1223A= (p.Asp408=) c.*214A= (n.*214A=) c.1091A= (p.Asp364=) | |
13 | g.113149273A>C | CA388793764 | F10 | c.1223A>C (p.Asp408Ala) c.*214A>C (n.*214A>C) c.1091A>C (p.Asp364Ala) | |
13 | g.113149273A>G | CA388793765 | F10 | c.1223A>G (p.Asp408Gly) c.*214A>G (n.*214A>G) c.1091A>G (p.Asp364Gly) | |
13 | g.113149273A>T | CA388793762 | F10 | c.1223A>T (p.Asp408Val) c.*214A>T (n.*214A>T) c.1091A>T (p.Asp364Val) | dbSNP gnomAD v4 |
13 | g.113149274C>A | CA388793771 | F10 | c.1224C>A (p.Asp408Glu) c.*215C>A (n.*215C>A) c.1092C>A (p.Asp364Glu) | |
13 | g.113149274C= | CA2120140384 | F10 | c.1224C= (p.Asp408=) c.*215C= (n.*215C=) c.1092C= (p.Asp364=) | |
13 | g.113149274C>G | CA388793768 | F10 | c.1224C>G (p.Asp408Glu) c.*215C>G (n.*215C>G) c.1092C>G (p.Asp364Glu) | dbSNP |
13 | g.113149274C>T | CA485424091 | F10 | c.1224C>T (p.Asp408=) c.*215C>T (n.*215C>T) c.1092C>T (p.Asp364=) | |
13 | g.113149275A= | CA2120140387 | F10 | c.1225A= (p.Thr409=) c.*216A= (n.*216A=) c.1093A= (p.Thr365=) | |
13 | g.113149275A>C | CA388793775 | F10 | c.1225A>C (p.Thr409Pro) c.*216A>C (n.*216A>C) c.1093A>C (p.Thr365Pro) | |
13 | g.113149275A>G | CA388793776 | F10 | c.1225A>G (p.Thr409Ala) c.*216A>G (n.*216A>G) c.1093A>G (p.Thr365Ala) | dbSNP |
13 | g.113149275A>T | CA388793779 | F10 | c.1225A>T (p.Thr409Ser) c.*216A>T (n.*216A>T) c.1093A>T (p.Thr365Ser) | |
13 | g.113149276C>A | CA388793781 | F10 | c.1226C>A (p.Thr409Asn) c.*217C>A (n.*217C>A) c.1094C>A (p.Thr365Asn) | |
13 | g.113149276C= | CA2120140391 | F10 | c.1226C= (p.Thr409=) c.*217C= (n.*217C=) c.1094C= (p.Thr365=) | |
13 | g.113149276C>G | CA388793784 | F10 | c.1226C>G (p.Thr409Ser) c.*217C>G (n.*217C>G) c.1094C>G (p.Thr365Ser) | |
13 | g.113149276C>T | CA7060708 | F10 | c.1226C>T (p.Thr409Ile) c.*217C>T (n.*217C>T) c.1094C>T (p.Thr365Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149277C>A | CA7060709 | F10 | c.1227C>A (p.Thr409=) c.*218C>A (n.*218C>A) c.1095C>A (p.Thr365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149277C= | CA2120140396 | F10 | c.1227C= (p.Thr409=) c.*218C= (n.*218C=) c.1095C= (p.Thr365=) | |
13 | g.113149277C>G | CA485424093 | F10 | c.1227C>G (p.Thr409=) c.*218C>G (n.*218C>G) c.1095C>G (p.Thr365=) | |
13 | g.113149277C>T | CA485424092 | F10 | c.1227C>T (p.Thr409=) c.*218C>T (n.*218C>T) c.1095C>T (p.Thr365=) | |
13 | g.113149278A= | CA2120140399 | F10 | c.1228A= (p.Lys410=) c.*219A= (n.*219A=) c.1096A= (p.Lys366=) | |
13 | g.113149278A>C | CA388793789 | F10 | c.1228A>C (p.Lys410Gln) c.*219A>C (n.*219A>C) c.1096A>C (p.Lys366Gln) | ClinVar |
13 | g.113149278A>G | CA388793792 | F10 | c.1228A>G (p.Lys410Glu) c.*219A>G (n.*219A>G) c.1096A>G (p.Lys366Glu) | |
13 | g.113149278A>T | CA388793794 | F10 | c.1228A>T (p.Lys410Ter) c.*219A>T (n.*219A>T) c.1096A>T (p.Lys366Ter) | dbSNP gnomAD v4 |
13 | g.113149279A>C | CA388793798 | F10 | c.1229A>C (p.Lys410Thr) c.*220A>C (n.*220A>C) c.1097A>C (p.Lys366Thr) | |
13 | g.113149279A>G | CA388793800 | F10 | c.1229A>G (p.Lys410Arg) c.*220A>G (n.*220A>G) c.1097A>G (p.Lys366Arg) | |
13 | g.113149279A>T | CA388793801 | F10 | c.1229A>T (p.Lys410Met) c.*220A>T (n.*220A>T) c.1097A>T (p.Lys366Met) | |
13 | g.113149279_113149280insACACACCCAAC | CA2800665343 | F10 | c.1229_1230insACACACCCAAC (p.Gln411HisfsTer27) c.*220_*221insACACACCCAAC (n.*220_*221insACACACCCAAC) c.1097_1098insACACACCCAAC (p.Gln367HisfsTer27) | |
13 | g.113149280G>A | CA485424094 | F10 | c.1230G>A (p.Lys410=) c.*221G>A (n.*221G>A) c.1098G>A (p.Lys366=) | |
13 | g.113149280G>C | CA388793805 | F10 | c.1230G>C (p.Lys410Asn) c.*221G>C (n.*221G>C) c.1098G>C (p.Lys366Asn) | |
13 | g.113149280G>T | CA388793807 | F10 | c.1230G>T (p.Lys410Asn) c.*221G>T (n.*221G>T) c.1098G>T (p.Lys366Asn) | |
13 | g.113149281_113149284dup | CA2575514505 | F10 | c.1231_1234dup (p.Glu412AlafsTer?) c.*222_*225dup (n.*222_*225dup) c.1099_1102dup (p.Glu368AlafsTer?) | |
13 | g.113149281C>A | CA388793810 | F10 | c.1231C>A (p.Gln411Lys) c.*222C>A (n.*222C>A) c.1099C>A (p.Gln367Lys) | |
13 | g.113149281C= | CA2120140401 | F10 | c.1231C= (p.Gln411=) c.*222C= (n.*222C=) c.1099C= (p.Gln367=) | |
13 | g.113149281C>G | CA388793812 | F10 | c.1231C>G (p.Gln411Glu) c.*222C>G (n.*222C>G) c.1099C>G (p.Gln367Glu) | |
13 | g.113149281C>T | CA388793816 | F10 | c.1231C>T (p.Gln411Ter) c.*222C>T (n.*222C>T) c.1099C>T (p.Gln367Ter) | dbSNP |
13 | g.113149282A= | CA2120140404 | F10 | c.1232A= (p.Gln411=) c.*223A= (n.*223A=) c.1100A= (p.Gln367=) | |
13 | g.113149282A>C | CA388793819 | F10 | c.1232A>C (p.Gln411Pro) c.*223A>C (n.*223A>C) c.1100A>C (p.Gln367Pro) | |
13 | g.113149282A>G | CA388793821 | F10 | c.1232A>G (p.Gln411Arg) c.*223A>G (n.*223A>G) c.1100A>G (p.Gln367Arg) | gnomAD v4 |
13 | g.113149282A>T | CA388793824 | F10 | c.1232A>T (p.Gln411Leu) c.*223A>T (n.*223A>T) c.1100A>T (p.Gln367Leu) | dbSNP |
13 | g.113149283G>A | CA485424095 | F10 | c.1233G>A (p.Gln411=) c.*224G>A (n.*224G>A) c.1101G>A (p.Gln367=) | dbSNP gnomAD v4 |
13 | g.113149283G>C | CA388793826 | F10 | c.1233G>C (p.Gln411His) c.*224G>C (n.*224G>C) c.1101G>C (p.Gln367His) | |
13 | g.113149283G= | CA2120140407 | F10 | c.1233G= (p.Gln411=) c.*224G= (n.*224G=) c.1101G= (p.Gln367=) | |
13 | g.113149283G>T | CA388793828 | F10 | c.1233G>T (p.Gln411His) c.*224G>T (n.*224G>T) c.1101G>T (p.Gln367His) | |
13 | g.113149284G>A | CA388793830 | F10 | c.1234G>A (p.Glu412Lys) c.*225G>A (n.*225G>A) c.1102G>A (p.Glu368Lys) | gnomAD v4 |
13 | g.113149284G>C | CA388793832 | F10 | c.1234G>C (p.Glu412Gln) c.*225G>C (n.*225G>C) c.1102G>C (p.Glu368Gln) | |
13 | g.113149284G>T | CA388793833 | F10 | c.1234G>T (p.Glu412Ter) c.*225G>T (n.*225G>T) c.1102G>T (p.Glu368Ter) | |
13 | g.113149285A>C | CA388793842 | F10 | c.1235A>C (p.Glu412Ala) c.*226A>C (n.*226A>C) c.1103A>C (p.Glu368Ala) | |
13 | g.113149285A>G | CA388793840 | F10 | c.1235A>G (p.Glu412Gly) c.*226A>G (n.*226A>G) c.1103A>G (p.Glu368Gly) | |
13 | g.113149285A>T | CA388793837 | F10 | c.1235A>T (p.Glu412Val) c.*226A>T (n.*226A>T) c.1103A>T (p.Glu368Val) | |
13 | g.113149286G>A | CA7060710 | F10 | c.1236G>A (p.Glu412=) c.*227G>A (n.*227G>A) c.1104G>A (p.Glu368=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149286G>C | CA388793847 | F10 | c.1236G>C (p.Glu412Asp) c.*227G>C (n.*227G>C) c.1104G>C (p.Glu368Asp) | |
13 | g.113149286G= | CA2120140410 | F10 | c.1236G= (p.Glu412=) c.*227G= (n.*227G=) c.1104G= (p.Glu368=) | |
13 | g.113149286G>T | CA388793850 | F10 | c.1236G>T (p.Glu412Asp) c.*227G>T (n.*227G>T) c.1104G>T (p.Glu368Asp) | |
13 | g.113149287G>A | CA388793853 | F10 | c.1237G>A (p.Asp413Asn) c.*228G>A (n.*228G>A) c.1105G>A (p.Asp369Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.113149287G>C | CA388793855 | F10 | c.1237G>C (p.Asp413His) c.*228G>C (n.*228G>C) c.1105G>C (p.Asp369His) | |
13 | g.113149287G= | CA2120140411 | F10 | c.1237G= (p.Asp413=) c.*228G= (n.*228G=) c.1105G= (p.Asp369=) | |
13 | g.113149287G>T | CA388793858 | F10 | c.1237G>T (p.Asp413Tyr) c.*228G>T (n.*228G>T) c.1105G>T (p.Asp369Tyr) | |
13 | g.113149288A>C | CA388793861 | F10 | c.1238A>C (p.Asp413Ala) c.*229A>C (n.*229A>C) c.1106A>C (p.Asp369Ala) | |
13 | g.113149288A>G | CA388793862 | F10 | c.1238A>G (p.Asp413Gly) c.*229A>G (n.*229A>G) c.1106A>G (p.Asp369Gly) | |
13 | g.113149288A>T | CA388793865 | F10 | c.1238A>T (p.Asp413Val) c.*229A>T (n.*229A>T) c.1106A>T (p.Asp369Val) | |
13 | g.113149289T>A | CA388793868 | F10 | c.1239T>A (p.Asp413Glu) c.*230T>A (n.*230T>A) c.1107T>A (p.Asp369Glu) | |
13 | g.113149289T>C | CA7060711 | F10 | c.1239T>C (p.Asp413=) c.*230T>C (n.*230T>C) c.1107T>C (p.Asp369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149289T>G | CA388793870 | F10 | c.1239T>G (p.Asp413Glu) c.*230T>G (n.*230T>G) c.1107T>G (p.Asp369Glu) | |
13 | g.113149289T= | CA2120140415 | F10 | c.1239T= (p.Asp413=) c.*230T= (n.*230T=) c.1107T= (p.Asp369=) | |
13 | g.113149290G>A | CA388793877 | F10 | c.1240G>A (p.Ala414Thr) c.*231G>A (n.*231G>A) c.1108G>A (p.Ala370Thr) | |
13 | g.113149290G>C | CA388793880 | F10 | c.1240G>C (p.Ala414Pro) c.*231G>C (n.*231G>C) c.1108G>C (p.Ala370Pro) | |
13 | g.113149290G>T | CA388793875 | F10 | c.1240G>T (p.Ala414Ser) c.*231G>T (n.*231G>T) c.1108G>T (p.Ala370Ser) | |
13 | g.113149291C>A | CA388793883 | F10 | c.1241C>A (p.Ala414Asp) c.*232C>A (n.*232C>A) c.1109C>A (p.Ala370Asp) | gnomAD v4 |
13 | g.113149291C= | CA2120140418 | F10 | c.1241C= (p.Ala414=) c.*232C= (n.*232C=) c.1109C= (p.Ala370=) | |
13 | g.113149291C>G | CA256478723 | F10 | c.1241C>G (p.Ala414Gly) c.*232C>G (n.*232C>G) c.1109C>G (p.Ala370Gly) | dbSNP |
13 | g.113149291C>T | CA388793887 | F10 | c.1241C>T (p.Ala414Val) c.*232C>T (n.*232C>T) c.1109C>T (p.Ala370Val) | |
13 | g.113149292C>A | CA485424098 | F10 | c.1242C>A (p.Ala414=) c.*233C>A (n.*233C>A) c.1110C>A (p.Ala370=) | gnomAD v4 |
13 | g.113149292C>G | CA485424102 | F10 | c.1242C>G (p.Ala414=) c.*233C>G (n.*233C>G) c.1110C>G (p.Ala370=) | |
13 | g.113149292C>T | CA485424099 | F10 | c.1242C>T (p.Ala414=) c.*233C>T (n.*233C>T) c.1110C>T (p.Ala370=) | |
13 | g.113149293T>A | CA388793890 | F10 | c.1243T>A (p.Cys415Ser) c.*234T>A (n.*234T>A) c.1111T>A (p.Cys371Ser) | |
13 | g.113149293T>C | CA388793892 | F10 | c.1243T>C (p.Cys415Arg) c.*234T>C (n.*234T>C) c.1111T>C (p.Cys371Arg) | |
13 | g.113149293T>G | CA388793894 | F10 | c.1243T>G (p.Cys415Gly) c.*234T>G (n.*234T>G) c.1111T>G (p.Cys371Gly) | |
13 | g.113149294G>A | CA388793898 | F10 | c.1244G>A (p.Cys415Tyr) c.*235G>A (n.*235G>A) c.1112G>A (p.Cys371Tyr) | |
13 | g.113149294G>C | CA388793902 | F10 | c.1244G>C (p.Cys415Ser) c.*235G>C (n.*235G>C) c.1112G>C (p.Cys371Ser) | |
13 | g.113149294G>T | CA388793900 | F10 | c.1244G>T (p.Cys415Phe) c.*235G>T (n.*235G>T) c.1112G>T (p.Cys371Phe) | |
13 | g.113149295C>A | CA388793905 | F10 | c.1245C>A (p.Cys415Ter) c.*236C>A (n.*236C>A) c.1113C>A (p.Cys371Ter) | |
13 | g.113149295C= | CA2120140425 | F10 | c.1245C= (p.Cys415=) c.*236C= (n.*236C=) c.1113C= (p.Cys371=) | |
13 | g.113149295C>G | CA388793908 | F10 | c.1245C>G (p.Cys415Trp) c.*236C>G (n.*236C>G) c.1113C>G (p.Cys371Trp) | |
13 | g.113149295C>T | CA485424104 | F10 | c.1245C>T (p.Cys415=) c.*236C>T (n.*236C>T) c.1113C>T (p.Cys371=) | dbSNP gnomAD v4 |
13 | g.113149296C>A | CA388793910 | F10 | c.1246C>A (p.Gln416Lys) c.*237C>A (n.*237C>A) c.1114C>A (p.Gln372Lys) | |
13 | g.113149296C>G | CA388793913 | F10 | c.1246C>G (p.Gln416Glu) c.*237C>G (n.*237C>G) c.1114C>G (p.Gln372Glu) | gnomAD v4 |
13 | g.113149296C>T | CA388793915 | F10 | c.1246C>T (p.Gln416Ter) c.*237C>T (n.*237C>T) c.1114C>T (p.Gln372Ter) | COSMIC |
13 | g.113149297del | CA2623809970 | F10 | c.1247del (p.Gln416ArgfsTer18) c.*238del (n.*238del) c.1115del (p.Gln372ArgfsTer18) | gnomAD v4 |
13 | g.113149297A= | CA2120140428 | F10 | c.1247A= (p.Gln416=) c.*238A= (n.*238A=) c.1115A= (p.Gln372=) | |
13 | g.113149297A>C | CA388793919 | F10 | c.1247A>C (p.Gln416Pro) c.*238A>C (n.*238A>C) c.1115A>C (p.Gln372Pro) | |
13 | g.113149297A>G | CA388793921 | F10 | c.1247A>G (p.Gln416Arg) c.*238A>G (n.*238A>G) c.1115A>G (p.Gln372Arg) | |
13 | g.113149297A>T | CA256478725 | F10 | c.1247A>T (p.Gln416Leu) c.*238A>T (n.*238A>T) c.1115A>T (p.Gln372Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149297_113149298delinsAG | CA2120140429 | F10 | c.1247_1248delinsAG (p.Gln416=) c.*238_*239delinsAG (n.*238_*239delinsAG) c.1115_1116delinsAG (p.Gln372=) | |
13 | g.113149298G>A | CA485424107 | F10 | c.1248G>A (p.Gln416=) c.*239G>A (n.*239G>A) c.1116G>A (p.Gln372=) | dbSNP |
13 | g.113149298G>C | CA388793927 | F10 | c.1248G>C (p.Gln416His) c.*239G>C (n.*239G>C) c.1116G>C (p.Gln372His) | gnomAD v4 |
13 | g.113149298G= | CA2120140434 | F10 | c.1248G= (p.Gln416=) c.*239G= (n.*239G=) c.1116G= (p.Gln372=) | |
13 | g.113149298G>T | CA388793924 | F10 | c.1248G>T (p.Gln416His) c.*239G>T (n.*239G>T) c.1116G>T (p.Gln372His) | |
13 | g.113149302del | CA2120140432 | F10 | c.1252del (p.Asp418ThrfsTer16) c.*243del (n.*243del) c.1120del (p.Asp374ThrfsTer16) | dbSNP |
13 | g.113149299G>A | CA388793933 | F10 | c.1249G>A (p.Gly417Arg) c.*240G>A (n.*240G>A) c.1117G>A (p.Gly373Arg) | |
13 | g.113149299G>C | CA388793930 | F10 | c.1249G>C (p.Gly417Arg) c.*240G>C (n.*240G>C) c.1117G>C (p.Gly373Arg) | |
13 | g.113149299G>T | CA388793936 | F10 | c.1249G>T (p.Gly417Trp) c.*240G>T (n.*240G>T) c.1117G>T (p.Gly373Trp) | |
13 | g.113149300G>A | CA388793938 | F10 | c.1250G>A (p.Gly417Glu) c.*241G>A (n.*241G>A) c.1118G>A (p.Gly373Glu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149300G>C | CA388793940 | F10 | c.1250G>C (p.Gly417Ala) c.*241G>C (n.*241G>C) c.1118G>C (p.Gly373Ala) | |
13 | g.113149300G= | CA2120140438 | F10 | c.1250G= (p.Gly417=) c.*241G= (n.*241G=) c.1118G= (p.Gly373=) | |
13 | g.113149300G>T | CA388793941 | F10 | c.1250G>T (p.Gly417Val) c.*241G>T (n.*241G>T) c.1118G>T (p.Gly373Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149301G>A | CA7060712 | F10 | c.1251G>A (p.Gly417=) c.*242G>A (n.*242G>A) c.1119G>A (p.Gly373=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149301G>C | CA485424110 | F10 | c.1251G>C (p.Gly417=) c.*242G>C (n.*242G>C) c.1119G>C (p.Gly373=) | dbSNP |
13 | g.113149301G= | CA2120140442 | F10 | c.1251G= (p.Gly417=) c.*242G= (n.*242G=) c.1119G= (p.Gly373=) | |
13 | g.113149301G>T | CA485424109 | F10 | c.1251G>T (p.Gly417=) c.*242G>T (n.*242G>T) c.1119G>T (p.Gly373=) | |
13 | g.113149302G>A | CA388793943 | F10 | c.1252G>A (p.Asp418Asn) c.*243G>A (n.*243G>A) c.1120G>A (p.Asp374Asn) | COSMIC |
13 | g.113149302G>C | CA388793945 | F10 | c.1252G>C (p.Asp418His) c.*243G>C (n.*243G>C) c.1120G>C (p.Asp374His) | ClinVar dbSNP |
13 | g.113149302G>T | CA388793946 | F10 | c.1252G>T (p.Asp418Tyr) c.*243G>T (n.*243G>T) c.1120G>T (p.Asp374Tyr) | |
13 | g.113149303A>C | CA388793950 | F10 | c.1253A>C (p.Asp418Ala) c.*244A>C (n.*244A>C) c.1121A>C (p.Asp374Ala) | |
13 | g.113149303A>G | CA388793952 | F10 | c.1253A>G (p.Asp418Gly) c.*244A>G (n.*244A>G) c.1121A>G (p.Asp374Gly) | |
13 | g.113149303A>T | CA388793954 | F10 | c.1253A>T (p.Asp418Val) c.*244A>T (n.*244A>T) c.1121A>T (p.Asp374Val) | |
13 | g.113149304C>A | CA388793957 | F10 | c.1254C>A (p.Asp418Glu) c.*245C>A (n.*245C>A) c.1122C>A (p.Asp374Glu) | |
13 | g.113149304C>G | CA388793960 | F10 | c.1254C>G (p.Asp418Glu) c.*245C>G (n.*245C>G) c.1122C>G (p.Asp374Glu) | gnomAD v4 |
13 | g.113149304C>T | CA485424112 | F10 | c.1254C>T (p.Asp418=) c.*245C>T (n.*245C>T) c.1122C>T (p.Asp374=) | gnomAD v4 |
13 | g.113149305A>C | CA388793968 | F10 | c.1255A>C (p.Ser419Arg) c.*246A>C (n.*246A>C) c.1123A>C (p.Ser375Arg) | |
13 | g.113149305A>G | CA388793965 | F10 | c.1255A>G (p.Ser419Gly) c.*246A>G (n.*246A>G) c.1123A>G (p.Ser375Gly) | |
13 | g.113149305A>T | CA388793964 | F10 | c.1255A>T (p.Ser419Cys) c.*246A>T (n.*246A>T) c.1123A>T (p.Ser375Cys) | |
13 | g.113149306G>A | CA388793971 | F10 | c.1256G>A (p.Ser419Asn) c.*247G>A (n.*247G>A) c.1124G>A (p.Ser375Asn) | |
13 | g.113149306G>C | CA388793973 | F10 | c.1256G>C (p.Ser419Thr) c.*247G>C (n.*247G>C) c.1124G>C (p.Ser375Thr) | |
13 | g.113149306G>T | CA388793975 | F10 | c.1256G>T (p.Ser419Ile) c.*247G>T (n.*247G>T) c.1124G>T (p.Ser375Ile) | |
13 | g.113149307C>A | CA388793978 | F10 | c.1257C>A (p.Ser419Arg) c.*248C>A (n.*248C>A) c.1125C>A (p.Ser375Arg) | |
13 | g.113149307C= | CA2120140445 | F10 | c.1257C= (p.Ser419=) c.*248C= (n.*248C=) c.1125C= (p.Ser375=) | |
13 | g.113149307C>G | CA388793981 | F10 | c.1257C>G (p.Ser419Arg) c.*248C>G (n.*248C>G) c.1125C>G (p.Ser375Arg) | |
13 | g.113149307C>T | CA7060713 | F10 | c.1257C>T (p.Ser419=) c.*248C>T (n.*248C>T) c.1125C>T (p.Ser375=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149308G>A | CA7060714 | F10 | c.1258G>A (p.Gly420Arg) c.*249G>A (n.*249G>A) c.1126G>A (p.Gly376Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149308G>C | CA388793988 | F10 | c.1258G>C (p.Gly420Arg) c.*249G>C (n.*249G>C) c.1126G>C (p.Gly376Arg) | |
13 | g.113149308G= | CA2120140447 | F10 | c.1258G= (p.Gly420=) c.*249G= (n.*249G=) c.1126G= (p.Gly376=) | |
13 | g.113149308G>T | CA388793991 | F10 | c.1258G>T (p.Gly420Trp) c.*249G>T (n.*249G>T) c.1126G>T (p.Gly376Trp) | |
13 | g.113149312del | CA2575514506 | F10 | c.1262del (p.Gly421AlafsTer13) c.*253del (n.*253del) c.1130del (p.Gly377AlafsTer13) | |
13 | g.113149309G>A | CA388793994 | F10 | c.1259G>A (p.Gly420Glu) c.*250G>A (n.*250G>A) c.1127G>A (p.Gly376Glu) | |
13 | g.113149309G>C | CA388793996 | F10 | c.1259G>C (p.Gly420Ala) c.*250G>C (n.*250G>C) c.1127G>C (p.Gly376Ala) | |
13 | g.113149309G>T | CA388793998 | F10 | c.1259G>T (p.Gly420Val) c.*250G>T (n.*250G>T) c.1127G>T (p.Gly376Val) | |
13 | g.113149310G>A | CA485424116 | F10 | c.1260G>A (p.Gly420=) c.*251G>A (n.*251G>A) c.1128G>A (p.Gly376=) | gnomAD v4 |
13 | g.113149310G>C | CA485424118 | F10 | c.1260G>C (p.Gly420=) c.*251G>C (n.*251G>C) c.1128G>C (p.Gly376=) | |
13 | g.113149310G>T | CA485424120 | F10 | c.1260G>T (p.Gly420=) c.*251G>T (n.*251G>T) c.1128G>T (p.Gly376=) | |
13 | g.113149311G>A | CA388794005 | F10 | c.1261G>A (p.Gly421Ser) c.*252G>A (n.*252G>A) c.1129G>A (p.Gly377Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149311G>C | CA388794003 | F10 | c.1261G>C (p.Gly421Arg) c.*252G>C (n.*252G>C) c.1129G>C (p.Gly377Arg) | |
13 | g.113149311G= | CA2120140451 | F10 | c.1261G= (p.Gly421=) c.*252G= (n.*252G=) c.1129G= (p.Gly377=) | |
13 | g.113149311G>T | CA388794001 | F10 | c.1261G>T (p.Gly421Cys) c.*252G>T (n.*252G>T) c.1129G>T (p.Gly377Cys) | |
13 | g.113149312G>A | CA7060715 | F10 | c.1262G>A (p.Gly421Asp) c.*253G>A (n.*253G>A) c.1130G>A (p.Gly377Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149312G>C | CA388794008 | F10 | c.1262G>C (p.Gly421Ala) c.*253G>C (n.*253G>C) c.1130G>C (p.Gly377Ala) | |
13 | g.113149312G= | CA2120140455 | F10 | c.1262G= (p.Gly421=) c.*253G= (n.*253G=) c.1130G= (p.Gly377=) | |
13 | g.113149312G>T | CA388794010 | F10 | c.1262G>T (p.Gly421Val) c.*253G>T (n.*253G>T) c.1130G>T (p.Gly377Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149313C>A | CA485424123 | F10 | c.1263C>A (p.Gly421=) c.*254C>A (n.*254C>A) c.1131C>A (p.Gly377=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149313C= | CA2120140461 | F10 | c.1263C= (p.Gly421=) c.*254C= (n.*254C=) c.1131C= (p.Gly377=) | |
13 | g.113149313C>G | CA485424125 | F10 | c.1263C>G (p.Gly421=) c.*254C>G (n.*254C>G) c.1131C>G (p.Gly377=) | |
13 | g.113149313C>T | CA256478729 | F10 | c.1263C>T (p.Gly421=) c.*254C>T (n.*254C>T) c.1131C>T (p.Gly377=) | dbSNP gnomAD v4 |
13 | g.113149314C>A | CA388794014 | F10 | c.1264C>A (p.Pro422Thr) c.*255C>A (n.*255C>A) c.1132C>A (p.Pro378Thr) | |
13 | g.113149314C= | CA2120140464 | F10 | c.1264C= (p.Pro422=) c.*255C= (n.*255C=) c.1132C= (p.Pro378=) | |
13 | g.113149314C>G | CA388794017 | F10 | c.1264C>G (p.Pro422Ala) c.*255C>G (n.*255C>G) c.1132C>G (p.Pro378Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149314C>T | CA7060716 | F10 | c.1264C>T (p.Pro422Ser) c.*255C>T (n.*255C>T) c.1132C>T (p.Pro378Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149315C>A | CA388794019 | F10 | c.1265C>A (p.Pro422Gln) c.*256C>A (n.*256C>A) c.1133C>A (p.Pro378Gln) | |
13 | g.113149315C= | CA2120140467 | F10 | c.1265C= (p.Pro422=) c.*256C= (n.*256C=) c.1133C= (p.Pro378=) | |
13 | g.113149315C>G | CA388794020 | F10 | c.1265C>G (p.Pro422Arg) c.*256C>G (n.*256C>G) c.1133C>G (p.Pro378Arg) | |
13 | g.113149315C>T | CA388794022 | F10 | c.1265C>T (p.Pro422Leu) c.*256C>T (n.*256C>T) c.1133C>T (p.Pro378Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.113149316G>A | CA7060717 | F10 | c.1266G>A (p.Pro422=) c.*257G>A (n.*257G>A) c.1134G>A (p.Pro378=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149316G>C | CA485424128 | F10 | c.1266G>C (p.Pro422=) c.*257G>C (n.*257G>C) c.1134G>C (p.Pro378=) | gnomAD v4 |
13 | g.113149316G= | CA2120140472 | F10 | c.1266G= (p.Pro422=) c.*257G= (n.*257G=) c.1134G= (p.Pro378=) | |
13 | g.113149316G>T | CA7060718 | F10 | c.1266G>T (p.Pro422=) c.*257G>T (n.*257G>T) c.1134G>T (p.Pro378=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149317C>A | CA388794029 | F10 | c.1267C>A (p.His423Asn) c.*258C>A (n.*258C>A) c.1135C>A (p.His379Asn) | |
13 | g.113149317C>G | CA388794027 | F10 | c.1267C>G (p.His423Asp) c.*258C>G (n.*258C>G) c.1135C>G (p.His379Asp) | |
13 | g.113149317C>T | CA388794025 | F10 | c.1267C>T (p.His423Tyr) c.*258C>T (n.*258C>T) c.1135C>T (p.His379Tyr) | gnomAD v4 |
13 | g.113149318A>C | CA388794030 | F10 | c.1268A>C (p.His423Pro) c.*259A>C (n.*259A>C) c.1136A>C (p.His379Pro) | |
13 | g.113149318A>G | CA388794032 | F10 | c.1268A>G (p.His423Arg) c.*259A>G (n.*259A>G) c.1136A>G (p.His379Arg) | |
13 | g.113149318A>T | CA388794033 | F10 | c.1268A>T (p.His423Leu) c.*259A>T (n.*259A>T) c.1136A>T (p.His379Leu) | |
13 | g.113149319C>A | CA256478732 | F10 | c.1269C>A (p.His423Gln) c.*260C>A (n.*260C>A) c.1137C>A (p.His379Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149319C= | CA2120140479 | F10 | c.1269C= (p.His423=) c.*260C= (n.*260C=) c.1137C= (p.His379=) | |
13 | g.113149319C>G | CA388794036 | F10 | c.1269C>G (p.His423Gln) c.*260C>G (n.*260C>G) c.1137C>G (p.His379Gln) | |
13 | g.113149319C>T | CA7060719 | F10 | c.1269C>T (p.His423=) c.*260C>T (n.*260C>T) c.1137C>T (p.His379=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149320G>A | CA7060720 | F10 | c.1270G>A (p.Val424Ile) c.*261G>A (n.*261G>A) c.1138G>A (p.Val380Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149320G>C | CA388794038 | F10 | c.1270G>C (p.Val424Leu) c.*261G>C (n.*261G>C) c.1138G>C (p.Val380Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149320G= | CA2120140484 | F10 | c.1270G= (p.Val424=) c.*261G= (n.*261G=) c.1138G= (p.Val380=) | |
13 | g.113149320G>T | CA388794039 | F10 | c.1270G>T (p.Val424Phe) c.*261G>T (n.*261G>T) c.1138G>T (p.Val380Phe) | dbSNP gnomAD v2 gnomAD v4 |