Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.113149312dup | CA2832561764 | F10 | c.1262dup (p.His423AlafsTer24) c.*253dup (n.*253dup) c.1130dup (p.His379AlafsTer24) | |
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 |
13 | g.113149321T>A | CA388794042 | F10 | c.1271T>A (p.Val424Asp) c.*262T>A (n.*262T>A) c.1139T>A (p.Val380Asp) | |
13 | g.113149321T>C | CA388794044 | F10 | c.1271T>C (p.Val424Ala) c.*262T>C (n.*262T>C) c.1139T>C (p.Val380Ala) | |
13 | g.113149321T>G | CA388794045 | F10 | c.1271T>G (p.Val424Gly) c.*262T>G (n.*262T>G) c.1139T>G (p.Val380Gly) | |
13 | g.113149322C>A | CA485424130 | F10 | c.1272C>A (p.Val424=) c.*263C>A (n.*263C>A) c.1140C>A (p.Val380=) | gnomAD v4 |
13 | g.113149322C>G | CA485424132 | F10 | c.1272C>G (p.Val424=) c.*263C>G (n.*263C>G) c.1140C>G (p.Val380=) | |
13 | g.113149322C>T | CA485424133 | F10 | c.1272C>T (p.Val424=) c.*263C>T (n.*263C>T) c.1140C>T (p.Val380=) | |
13 | g.113149323A>C | CA388794051 | F10 | c.1273A>C (p.Thr425Pro) c.*264A>C (n.*264A>C) c.1141A>C (p.Thr381Pro) | |
13 | g.113149323A>G | CA388794050 | F10 | c.1273A>G (p.Thr425Ala) c.*264A>G (n.*264A>G) c.1141A>G (p.Thr381Ala) | |
13 | g.113149323A>T | CA388794048 | F10 | c.1273A>T (p.Thr425Ser) c.*264A>T (n.*264A>T) c.1141A>T (p.Thr381Ser) | |
13 | g.113149324C>A | CA388794054 | F10 | c.1274C>A (p.Thr425Asn) c.*265C>A (n.*265C>A) c.1142C>A (p.Thr381Asn) | gnomAD v4 |
13 | g.113149324C>G | CA388794058 | F10 | c.1274C>G (p.Thr425Ser) c.*265C>G (n.*265C>G) c.1142C>G (p.Thr381Ser) | |
13 | g.113149324C>T | CA388794056 | F10 | c.1274C>T (p.Thr425Ile) c.*265C>T (n.*265C>T) c.1142C>T (p.Thr381Ile) | |
13 | g.113149325C>A | CA485424134 | F10 | c.1275C>A (p.Thr425=) c.*266C>A (n.*266C>A) c.1143C>A (p.Thr381=) | |
13 | g.113149325C= | CA2120140487 | F10 | c.1275C= (p.Thr425=) c.*266C= (n.*266C=) c.1143C= (p.Thr381=) | |
13 | g.113149325C>G | CA256478735 | F10 | c.1275C>G (p.Thr425=) c.*266C>G (n.*266C>G) c.1143C>G (p.Thr381=) | dbSNP |
13 | g.113149325C>T | CA485424135 | F10 | c.1275C>T (p.Thr425=) c.*266C>T (n.*266C>T) c.1143C>T (p.Thr381=) | |
13 | g.113149326C>A | CA388794061 | F10 | c.1276C>A (p.Arg426Ser) c.*267C>A (n.*267C>A) c.1144C>A (p.Arg382Ser) | |
13 | g.113149326C= | CA2120140491 | F10 | c.1276C= (p.Arg426=) c.*267C= (n.*267C=) c.1144C= (p.Arg382=) | |
13 | g.113149326C>G | CA388794062 | F10 | c.1276C>G (p.Arg426Gly) c.*267C>G (n.*267C>G) c.1144C>G (p.Arg382Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149326C>T | CA7060721 | F10 | c.1276C>T (p.Arg426Cys) c.*267C>T (n.*267C>T) c.1144C>T (p.Arg382Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149327G>A | CA7060722 | F10 | c.1277G>A (p.Arg426His) c.*268G>A (n.*268G>A) c.1145G>A (p.Arg382His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149327G>C | CA388794066 | F10 | c.1277G>C (p.Arg426Pro) c.*268G>C (n.*268G>C) c.1145G>C (p.Arg382Pro) | |
13 | g.113149327G= | CA2120140493 | F10 | c.1277G= (p.Arg426=) c.*268G= (n.*268G=) c.1145G= (p.Arg382=) | |
13 | g.113149327G>T | CA388794068 | F10 | c.1277G>T (p.Arg426Leu) c.*268G>T (n.*268G>T) c.1145G>T (p.Arg382Leu) | |
13 | g.113149328C>A | CA485424137 | F10 | c.1278C>A (p.Arg426=) c.*269C>A (n.*269C>A) c.1146C>A (p.Arg382=) | gnomAD v3 gnomAD v4 |
13 | g.113149328C>G | CA485424139 | F10 | c.1278C>G (p.Arg426=) c.*269C>G (n.*269C>G) c.1146C>G (p.Arg382=) | |
13 | g.113149328C>T | CA485424138 | F10 | c.1278C>T (p.Arg426=) c.*269C>T (n.*269C>T) c.1146C>T (p.Arg382=) | |
13 | g.113149329T>A | CA388794070 | F10 | c.1279T>A (p.Phe427Ile) c.*270T>A (n.*270T>A) c.1147T>A (p.Phe383Ile) | |
13 | g.113149329T>C | CA388794073 | F10 | c.1279T>C (p.Phe427Leu) c.*270T>C (n.*270T>C) c.1147T>C (p.Phe383Leu) | |
13 | g.113149329T>G | CA388794075 | F10 | c.1279T>G (p.Phe427Val) c.*270T>G (n.*270T>G) c.1147T>G (p.Phe383Val) | |
13 | g.113149330T>A | CA388794078 | F10 | c.1280T>A (p.Phe427Tyr) c.*271T>A (n.*271T>A) c.1148T>A (p.Phe383Tyr) | |
13 | g.113149330T>C | CA388794080 | F10 | c.1280T>C (p.Phe427Ser) c.*271T>C (n.*271T>C) c.1148T>C (p.Phe383Ser) | |
13 | g.113149330T>G | CA388794082 | F10 | c.1280T>G (p.Phe427Cys) c.*271T>G (n.*271T>G) c.1148T>G (p.Phe383Cys) | |
13 | g.113149331C>A | CA388794084 | F10 | c.1281C>A (p.Phe427Leu) c.*272C>A (n.*272C>A) c.1149C>A (p.Phe383Leu) | |
13 | g.113149331C>G | CA388794086 | F10 | c.1281C>G (p.Phe427Leu) c.*272C>G (n.*272C>G) c.1149C>G (p.Phe383Leu) | |
13 | g.113149331C>T | CA485424144 | F10 | c.1281C>T (p.Phe427=) c.*272C>T (n.*272C>T) c.1149C>T (p.Phe383=) | gnomAD v4 |
13 | g.113149332A>C | CA388794089 | F10 | c.1282A>C (p.Lys428Gln) c.*273A>C (n.*273A>C) c.1150A>C (p.Lys384Gln) | |
13 | g.113149332A>G | CA388794090 | F10 | c.1282A>G (p.Lys428Glu) c.*273A>G (n.*273A>G) c.1150A>G (p.Lys384Glu) | |
13 | g.113149332A>T | CA388794092 | F10 | c.1282A>T (p.Lys428Ter) c.*273A>T (n.*273A>T) c.1150A>T (p.Lys384Ter) | |
13 | g.113149333A>C | CA388794093 | F10 | c.1283A>C (p.Lys428Thr) c.*274A>C (n.*274A>C) c.1151A>C (p.Lys384Thr) | |
13 | g.113149333A>G | CA388794095 | F10 | c.1283A>G (p.Lys428Arg) c.*274A>G (n.*274A>G) c.1151A>G (p.Lys384Arg) | |
13 | g.113149333A>T | CA388794096 | F10 | c.1283A>T (p.Lys428Met) c.*274A>T (n.*274A>T) c.1151A>T (p.Lys384Met) | |
13 | g.113149334G>A | CA485424148 | F10 | c.1284G>A (p.Lys428=) c.*275G>A (n.*275G>A) c.1152G>A (p.Lys384=) | |
13 | g.113149334G>C | CA388794097 | F10 | c.1284G>C (p.Lys428Asn) c.*275G>C (n.*275G>C) c.1152G>C (p.Lys384Asn) | |
13 | g.113149334G= | CA2120140497 | F10 | c.1284G= (p.Lys428=) c.*275G= (n.*275G=) c.1152G= (p.Lys384=) | |
13 | g.113149334G>T | CA388794099 | F10 | c.1284G>T (p.Lys428Asn) c.*275G>T (n.*275G>T) c.1152G>T (p.Lys384Asn) | dbSNP gnomAD v2 |
13 | g.113149335G>A | CA388794101 | F10 | c.1285G>A (p.Asp429Asn) c.*276G>A (n.*276G>A) c.1153G>A (p.Asp385Asn) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149335G>C | CA388794103 | F10 | c.1285G>C (p.Asp429His) c.*276G>C (n.*276G>C) c.1153G>C (p.Asp385His) | |
13 | g.113149335G= | CA2120140499 | F10 | c.1285G= (p.Asp429=) c.*276G= (n.*276G=) c.1153G= (p.Asp385=) | |
13 | g.113149335G>T | CA388794105 | F10 | c.1285G>T (p.Asp429Tyr) c.*276G>T (n.*276G>T) c.1153G>T (p.Asp385Tyr) | |
13 | g.113149336A>C | CA388794108 | F10 | c.1286A>C (p.Asp429Ala) c.*277A>C (n.*277A>C) c.1154A>C (p.Asp385Ala) | |
13 | g.113149336A>G | CA388794111 | F10 | c.1286A>G (p.Asp429Gly) c.*277A>G (n.*277A>G) c.1154A>G (p.Asp385Gly) | |
13 | g.113149336A>T | CA388794107 | F10 | c.1286A>T (p.Asp429Val) c.*277A>T (n.*277A>T) c.1154A>T (p.Asp385Val) | |
13 | g.113149337C>A | CA388794113 | F10 | c.1287C>A (p.Asp429Glu) c.*278C>A (n.*278C>A) c.1155C>A (p.Asp385Glu) | |
13 | g.113149337C= | CA2018046983 | F10 | c.1287C= (p.Asp429=) c.*278C= (n.*278C=) c.1155C= (p.Asp385=) | |
13 | g.113149337C>G | CA388794114 | F10 | c.1287C>G (p.Asp429Glu) c.*278C>G (n.*278C>G) c.1155C>G (p.Asp385Glu) | |
13 | g.113149337C>T | CA256478738 | F10 | c.1287C>T (p.Asp429=) c.*278C>T (n.*278C>T) c.1155C>T (p.Asp385=) | dbSNP |
13 | g.113149338A>C | CA388794116 | F10 | c.1288A>C (p.Thr430Pro) c.*279A>C (n.*279A>C) c.1156A>C (p.Thr386Pro) | |
13 | g.113149338A>G | CA388794117 | F10 | c.1288A>G (p.Thr430Ala) c.*279A>G (n.*279A>G) c.1156A>G (p.Thr386Ala) | |
13 | g.113149338A>T | CA388794118 | F10 | c.1288A>T (p.Thr430Ser) c.*279A>T (n.*279A>T) c.1156A>T (p.Thr386Ser) | |
13 | g.113149339C>A | CA388794120 | F10 | c.1289C>A (p.Thr430Asn) c.*280C>A (n.*280C>A) c.1157C>A (p.Thr386Asn) | |
13 | g.113149339C>G | CA388794122 | F10 | c.1289C>G (p.Thr430Ser) c.*280C>G (n.*280C>G) c.1157C>G (p.Thr386Ser) | |
13 | g.113149339C>T | CA388794124 | F10 | c.1289C>T (p.Thr430Ile) c.*280C>T (n.*280C>T) c.1157C>T (p.Thr386Ile) | |
13 | g.113149340C>A | CA485424152 | F10 | c.1290C>A (p.Thr430=) c.*281C>A (n.*281C>A) c.1158C>A (p.Thr386=) | |
13 | g.113149340C>G | CA485424153 | F10 | c.1290C>G (p.Thr430=) c.*281C>G (n.*281C>G) c.1158C>G (p.Thr386=) | |
13 | g.113149340C>T | CA485424154 | F10 | c.1290C>T (p.Thr430=) c.*281C>T (n.*281C>T) c.1158C>T (p.Thr386=) | |
13 | g.113149341del | CA2623810092 | F10 | c.1291del (p.Tyr431ThrfsTer3) c.*282del (n.*282del) c.1159del (p.Tyr387ThrfsTer3) | gnomAD v4 |
13 | g.113149341T>A | CA388794126 | F10 | c.1291T>A (p.Tyr431Asn) c.*282T>A (n.*282T>A) c.1159T>A (p.Tyr387Asn) | |
13 | g.113149341T>C | CA256478739 | F10 | c.1291T>C (p.Tyr431His) c.*282T>C (n.*282T>C) c.1159T>C (p.Tyr387His) | dbSNP gnomAD v4 |
13 | g.113149341T>G | CA388794128 | F10 | c.1291T>G (p.Tyr431Asp) c.*282T>G (n.*282T>G) c.1159T>G (p.Tyr387Asp) | |
13 | g.113149341T= | CA2120140506 | F10 | c.1291T= (p.Tyr431=) c.*282T= (n.*282T=) c.1159T= (p.Tyr387=) | |
13 | g.113149342_113149345del | CA2830665552 | F10 | c.1292_1295del (p.Tyr431SerfsTer2) c.*283_*286del (n.*283_*286del) c.1160_1163del (p.Tyr387SerfsTer2) | |
13 | g.113149342A>C | CA388794132 | F10 | c.1292A>C (p.Tyr431Ser) c.*283A>C (n.*283A>C) c.1160A>C (p.Tyr387Ser) | |
13 | g.113149342A>G | CA388794133 | F10 | c.1292A>G (p.Tyr431Cys) c.*283A>G (n.*283A>G) c.1160A>G (p.Tyr387Cys) | gnomAD v4 |
13 | g.113149342A>T | CA388794131 | F10 | c.1292A>T (p.Tyr431Phe) c.*283A>T (n.*283A>T) c.1160A>T (p.Tyr387Phe) | |
13 | g.113149343C>A | CA388794135 | F10 | c.1293C>A (p.Tyr431Ter) c.*284C>A (n.*284C>A) c.1161C>A (p.Tyr387Ter) | |
13 | g.113149343C= | CA2120140510 | F10 | c.1293C= (p.Tyr431=) c.*284C= (n.*284C=) c.1161C= (p.Tyr387=) | |
13 | g.113149343C>G | CA388794137 | F10 | c.1293C>G (p.Tyr431Ter) c.*284C>G (n.*284C>G) c.1161C>G (p.Tyr387Ter) | |
13 | g.113149343C>T | CA485424159 | F10 | c.1293C>T (p.Tyr431=) c.*284C>T (n.*284C>T) c.1161C>T (p.Tyr387=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149343_113149344delinsCT | CA2120140512 | F10 | c.1293_1294delinsCT (p.Tyr431=) c.*284_*285delinsCT (n.*284_*285delinsCT) c.1161_1162delinsCT (p.Tyr387=) | |
13 | g.113149344T>A | CA388794138 | F10 | c.1294T>A (p.Phe432Ile) c.*285T>A (n.*285T>A) c.1162T>A (p.Phe388Ile) | |
13 | g.113149344T>C | CA388794139 | F10 | c.1294T>C (p.Phe432Leu) c.*285T>C (n.*285T>C) c.1162T>C (p.Phe388Leu) | |
13 | g.113149344T>G | CA388794141 | F10 | c.1294T>G (p.Phe432Val) c.*285T>G (n.*285T>G) c.1162T>G (p.Phe388Val) | |
13 | g.113149345del | CA2120140517 | F10 | c.1295del (p.Phe432SerfsTer2) c.*286del (n.*286del) c.1163del (p.Phe388SerfsTer2) | dbSNP |
13 | g.113149345T>A | CA388794145 | F10 | c.1295T>A (p.Phe432Tyr) c.*286T>A (n.*286T>A) c.1163T>A (p.Phe388Tyr) | |
13 | g.113149345T>C | CA388794144 | F10 | c.1295T>C (p.Phe432Ser) c.*286T>C (n.*286T>C) c.1163T>C (p.Phe388Ser) | |
13 | g.113149345T>G | CA388794143 | F10 | c.1295T>G (p.Phe432Cys) c.*286T>G (n.*286T>G) c.1163T>G (p.Phe388Cys) | |
13 | g.113149346C>A | CA388794147 | F10 | c.1296C>A (p.Phe432Leu) c.*287C>A (n.*287C>A) c.1164C>A (p.Phe388Leu) | |
13 | g.113149346C= | CA2120140525 | F10 | c.1296C= (p.Phe432=) c.*287C= (n.*287C=) c.1164C= (p.Phe388=) | |
13 | g.113149346C>G | CA7060724 | F10 | c.1296C>G (p.Phe432Leu) c.*287C>G (n.*287C>G) c.1164C>G (p.Phe388Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149346C>T | CA7060723 | F10 | c.1296C>T (p.Phe432=) c.*287C>T (n.*287C>T) c.1164C>T (p.Phe388=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149347G>A | CA7060725 | F10 | c.1297G>A (p.Val433Met) c.*288G>A (n.*288G>A) c.1165G>A (p.Val389Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149347G>C | CA388794150 | F10 | c.1297G>C (p.Val433Leu) c.*288G>C (n.*288G>C) c.1165G>C (p.Val389Leu) | |
13 | g.113149347G= | CA2120140528 | F10 | c.1297G= (p.Val433=) c.*288G= (n.*288G=) c.1165G= (p.Val389=) | |
13 | g.113149347G>T | CA388794152 | F10 | c.1297G>T (p.Val433Leu) c.*288G>T (n.*288G>T) c.1165G>T (p.Val389Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149348T>A | CA388794157 | F10 | c.1298T>A (p.Val433Glu) c.*289T>A (n.*289T>A) c.1166T>A (p.Val389Glu) | |
13 | g.113149348T>C | CA388794155 | F10 | c.1298T>C (p.Val433Ala) c.*289T>C (n.*289T>C) c.1166T>C (p.Val389Ala) | gnomAD v4 |
13 | g.113149348T>G | CA388794154 | F10 | c.1298T>G (p.Val433Gly) c.*289T>G (n.*289T>G) c.1166T>G (p.Val389Gly) | |
13 | g.113149349G>A | CA485424162 | F10 | c.1299G>A (p.Val433=) c.*290G>A (n.*290G>A) c.1167G>A (p.Val389=) | |
13 | g.113149349G>C | CA485424163 | F10 | c.1299G>C (p.Val433=) c.*290G>C (n.*290G>C) c.1167G>C (p.Val389=) | |
13 | g.113149349G>T | CA485424164 | F10 | c.1299G>T (p.Val433=) c.*290G>T (n.*290G>T) c.1167G>T (p.Val389=) | |
13 | g.113149350A>C | CA388794158 | F10 | c.1300A>C (p.Thr434Pro) c.*291A>C (n.*291A>C) c.1168A>C (p.Thr390Pro) | |
13 | g.113149350A>G | CA388794162 | F10 | c.1300A>G (p.Thr434Ala) c.*291A>G (n.*291A>G) c.1168A>G (p.Thr390Ala) | |
13 | g.113149350A>T | CA388794160 | F10 | c.1300A>T (p.Thr434Ser) c.*291A>T (n.*291A>T) c.1168A>T (p.Thr390Ser) | |
13 | g.113149351C>A | CA388794164 | F10 | c.1301C>A (p.Thr434Lys) c.*292C>A (n.*292C>A) c.1169C>A (p.Thr390Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149351C= | CA2120140531 | F10 | c.1301C= (p.Thr434=) c.*292C= (n.*292C=) c.1169C= (p.Thr390=) | |
13 | g.113149351C>G | CA388794167 | F10 | c.1301C>G (p.Thr434Arg) c.*292C>G (n.*292C>G) c.1169C>G (p.Thr390Arg) | |
13 | g.113149351C>T | CA388794166 | F10 | c.1301C>T (p.Thr434Ile) c.*292C>T (n.*292C>T) c.1169C>T (p.Thr390Ile) | |
13 | g.113149352A>C | CA485424166 | F10 | c.1302A>C (p.Thr434=) c.*293A>C (n.*293A>C) c.1170A>C (p.Thr390=) | |
13 | g.113149352A>G | CA485424167 | F10 | c.1302A>G (p.Thr434=) c.*293A>G (n.*293A>G) c.1170A>G (p.Thr390=) | |
13 | g.113149352A>T | CA485424168 | F10 | c.1302A>T (p.Thr434=) c.*293A>T (n.*293A>T) c.1170A>T (p.Thr390=) | |
13 | g.113149353G>A | CA388794169 | F10 | c.1303G>A (p.Gly435Ser) c.*294G>A (n.*294G>A) c.1171G>A (p.Gly391Ser) | |
13 | g.113149353G>C | CA388794171 | F10 | c.1303G>C (p.Gly435Arg) c.*294G>C (n.*294G>C) c.1171G>C (p.Gly391Arg) | |
13 | g.113149353G>T | CA388794172 | F10 | c.1303G>T (p.Gly435Cys) c.*294G>T (n.*294G>T) c.1171G>T (p.Gly391Cys) | |
13 | g.113149354G>A | CA388794174 | F10 | c.1304G>A (p.Gly435Asp) c.*295G>A (n.*295G>A) c.1172G>A (p.Gly391Asp) | |
13 | g.113149354G>C | CA388794176 | F10 | c.1304G>C (p.Gly435Ala) c.*295G>C (n.*295G>C) c.1172G>C (p.Gly391Ala) | |
13 | g.113149354G>T | CA388794178 | F10 | c.1304G>T (p.Gly435Val) c.*295G>T (n.*295G>T) c.1172G>T (p.Gly391Val) | |
13 | g.113149355C>A | CA485424170 | F10 | c.1305C>A (p.Gly435=) c.*296C>A (n.*296C>A) c.1173C>A (p.Gly391=) | |
13 | g.113149355C= | CA2120140532 | F10 | c.1305C= (p.Gly435=) c.*296C= (n.*296C=) c.1173C= (p.Gly391=) | |
13 | g.113149355C>G | CA485424171 | F10 | c.1305C>G (p.Gly435=) c.*296C>G (n.*296C>G) c.1173C>G (p.Gly391=) | gnomAD v4 |
13 | g.113149355C>T | CA7060726 | F10 | c.1305C>T (p.Gly435=) c.*296C>T (n.*296C>T) c.1173C>T (p.Gly391=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149356A>C | CA388794181 | F10 | c.1306A>C (p.Ile436Leu) c.*297A>C (n.*297A>C) c.1174A>C (p.Ile392Leu) | gnomAD v4 |
13 | g.113149356A>G | CA388794183 | F10 | c.1306A>G (p.Ile436Val) c.*297A>G (n.*297A>G) c.1174A>G (p.Ile392Val) | |
13 | g.113149356A>T | CA388794185 | F10 | c.1306A>T (p.Ile436Phe) c.*297A>T (n.*297A>T) c.1174A>T (p.Ile392Phe) | |
13 | g.113149357T>A | CA388794190 | F10 | c.1307T>A (p.Ile436Asn) c.*298T>A (n.*298T>A) c.1175T>A (p.Ile392Asn) | |
13 | g.113149357T>C | CA388794188 | F10 | c.1307T>C (p.Ile436Thr) c.*298T>C (n.*298T>C) c.1175T>C (p.Ile392Thr) | |
13 | g.113149357T>G | CA388794187 | F10 | c.1307T>G (p.Ile436Ser) c.*298T>G (n.*298T>G) c.1175T>G (p.Ile392Ser) | |
13 | g.113149358C>A | CA485424175 | F10 | c.1308C>A (p.Ile436=) c.*299C>A (n.*299C>A) c.1176C>A (p.Ile392=) | |
13 | g.113149358C= | CA2120140536 | F10 | c.1308C= (p.Ile436=) c.*299C= (n.*299C=) c.1176C= (p.Ile392=) | |
13 | g.113149358C>G | CA388794192 | F10 | c.1308C>G (p.Ile436Met) c.*299C>G (n.*299C>G) c.1176C>G (p.Ile392Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149358C>T | CA7060727 | F10 | c.1308C>T (p.Ile436=) c.*299C>T (n.*299C>T) c.1176C>T (p.Ile392=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149359G>A | CA7060728 | F10 | c.1309G>A (p.Val437Ile) c.*300G>A (n.*300G>A) c.1177G>A (p.Val393Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149359G>C | CA388794195 | F10 | c.1309G>C (p.Val437Leu) c.*300G>C (n.*300G>C) c.1177G>C (p.Val393Leu) | COSMIC |
13 | g.113149359G= | CA2120140540 | F10 | c.1309G= (p.Val437=) c.*300G= (n.*300G=) c.1177G= (p.Val393=) | |
13 | g.113149359G>T | CA388794197 | F10 | c.1309G>T (p.Val437Phe) c.*300G>T (n.*300G>T) c.1177G>T (p.Val393Phe) | |
13 | g.113149360T>A | CA388794199 | F10 | c.1310T>A (p.Val437Asp) c.*301T>A (n.*301T>A) c.1178T>A (p.Val393Asp) | |
13 | g.113149360T>C | CA388794201 | F10 | c.1310T>C (p.Val437Ala) c.*301T>C (n.*301T>C) c.1178T>C (p.Val393Ala) | |
13 | g.113149360T>G | CA388794202 | F10 | c.1310T>G (p.Val437Gly) c.*301T>G (n.*301T>G) c.1178T>G (p.Val393Gly) | |
13 | g.113149361C>A | CA485424178 | F10 | c.1311C>A (p.Val437=) c.*302C>A (n.*302C>A) c.1179C>A (p.Val393=) | |
13 | g.113149361C>G | CA485424179 | F10 | c.1311C>G (p.Val437=) c.*302C>G (n.*302C>G) c.1179C>G (p.Val393=) | |
13 | g.113149361C>T | CA485424180 | F10 | c.1311C>T (p.Val437=) c.*302C>T (n.*302C>T) c.1179C>T (p.Val393=) | |
13 | g.113149362A>C | CA388794204 | F10 | c.1312A>C (p.Ser438Arg) c.*303A>C (n.*303A>C) c.1180A>C (p.Ser394Arg) | |
13 | g.113149362A>G | CA388794206 | F10 | c.1312A>G (p.Ser438Gly) c.*303A>G (n.*303A>G) c.1180A>G (p.Ser394Gly) | |
13 | g.113149362A>T | CA388794208 | F10 | c.1312A>T (p.Ser438Cys) c.*303A>T (n.*303A>T) c.1180A>T (p.Ser394Cys) | |
13 | g.113149362_113149363insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG | CA2623810135 | F10 | c.1312_1313insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (p.Ser438ThrfsTer41) c.*303_*304insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (n.*303_*304insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG) c.1180_1181insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (p.Ser394ThrfsTer41) | gnomAD v4 |
13 | g.113149363G>A | CA388794212 | F10 | c.1313G>A (p.Ser438Asn) c.*304G>A (n.*304G>A) c.1181G>A (p.Ser394Asn) | |
13 | g.113149363G>C | CA388794213 | F10 | c.1313G>C (p.Ser438Thr) c.*304G>C (n.*304G>C) c.1181G>C (p.Ser394Thr) | |
13 | g.113149363G>T | CA388794211 | F10 | c.1313G>T (p.Ser438Ile) c.*304G>T (n.*304G>T) c.1181G>T (p.Ser394Ile) | |
13 | g.113149364C>A | CA388794216 | F10 | c.1314C>A (p.Ser438Arg) c.*305C>A (n.*305C>A) c.1182C>A (p.Ser394Arg) | |
13 | g.113149364C>G | CA388794218 | F10 | c.1314C>G (p.Ser438Arg) c.*305C>G (n.*305C>G) c.1182C>G (p.Ser394Arg) | |
13 | g.113149364C>T | CA485424184 | F10 | c.1314C>T (p.Ser438=) c.*305C>T (n.*305C>T) c.1182C>T (p.Ser394=) | |
13 | g.113149365T>A | CA388794219 | F10 | c.1315T>A (p.Trp439Arg) c.*306T>A (n.*306T>A) c.1183T>A (p.Trp395Arg) | |
13 | g.113149365T>C | CA388794221 | F10 | c.1315T>C (p.Trp439Arg) c.*306T>C (n.*306T>C) c.1183T>C (p.Trp395Arg) | |
13 | g.113149365T>G | CA388794223 | F10 | c.1315T>G (p.Trp439Gly) c.*306T>G (n.*306T>G) c.1183T>G (p.Trp395Gly) | |
13 | g.113149366G>A | CA388794225 | F10 | c.1316G>A (p.Trp439Ter) c.*307G>A (n.*307G>A) c.1184G>A (p.Trp395Ter) | |
13 | g.113149366G>C | CA388794226 | F10 | c.1316G>C (p.Trp439Ser) c.*307G>C (n.*307G>C) c.1184G>C (p.Trp395Ser) | |
13 | g.113149366G>T | CA388794227 | F10 | c.1316G>T (p.Trp439Leu) c.*307G>T (n.*307G>T) c.1184G>T (p.Trp395Leu) | |
13 | g.113149366_113149367insT | CA2623810140 | F10 | c.1316_1317insT (p.Trp439CysfsTer8) c.*307_*308insT (n.*307_*308insT) c.1184_1185insT (p.Trp395CysfsTer8) | gnomAD v4 |
13 | g.113149367G>A | CA388794228 | F10 | c.1317G>A (p.Trp439Ter) c.*308G>A (n.*308G>A) c.1185G>A (p.Trp395Ter) | |
13 | g.113149367G>C | CA388794229 | F10 | c.1317G>C (p.Trp439Cys) c.*308G>C (n.*308G>C) c.1185G>C (p.Trp395Cys) | |
13 | g.113149367G= | CA2120140545 | F10 | c.1317G= (p.Trp439=) c.*308G= (n.*308G=) c.1185G= (p.Trp395=) | |
13 | g.113149367G>T | CA388794230 | F10 | c.1317G>T (p.Trp439Cys) c.*308G>T (n.*308G>T) c.1185G>T (p.Trp395Cys) | |
13 | g.113149367_113149376del | CA2623810142 | F10 | c.1317_1326del (p.Trp439CysfsTer25) c.*308_*317del (n.*308_*317del) c.1185_1194del (p.Trp395CysfsTer25) | gnomAD v4 |
13 | g.113149367_113149368insTTTTTTTTTTTTAA | CA612868374 | F10 | c.1317_1318insTTTTTTTTTTTTAA (p.Gly440PhefsTer32) c.*308_*309insTTTTTTTTTTTTAA (n.*308_*309insTTTTTTTTTTTTAA) c.1185_1186insTTTTTTTTTTTTAA (p.Gly396PhefsTer32) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149368G>A | CA388794233 | F10 | c.1318G>A (p.Gly440Arg) c.*309G>A (n.*309G>A) c.1186G>A (p.Gly396Arg) | |
13 | g.113149368G>C | CA388794235 | F10 | c.1318G>C (p.Gly440Arg) c.*309G>C (n.*309G>C) c.1186G>C (p.Gly396Arg) | |
13 | g.113149368G= | CA2120140549 | F10 | c.1318G= (p.Gly440=) c.*309G= (n.*309G=) c.1186G= (p.Gly396=) | |
13 | g.113149368G>T | CA388794231 | F10 | c.1318G>T (p.Gly440Ter) c.*309G>T (n.*309G>T) c.1186G>T (p.Gly396Ter) | gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149368_113149376del | CA2800665256 | F10 | c.1318_1326del (p.Gly440_Gly442del) c.*309_*317del (n.*309_*317del) c.1186_1194del (p.Gly396_Gly398del) | |
13 | g.113149368_113149369insTTTTTTTTTTAAT | CA2623810168 | F10 | c.1318_1319insTTTTTTTTTTAAT (p.Gly440ValfsTer11) c.*309_*310insTTTTTTTTTTAAT (n.*309_*310insTTTTTTTTTTAAT) c.1186_1187insTTTTTTTTTTAAT (p.Gly396ValfsTer11) | gnomAD v4 |
13 | g.113149368_113149369insTATTTTTTTTTAAT | CA2800665263 | F10 | c.1318_1319insTATTTTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTATTTTTTTTTAAT (n.*309_*310insTATTTTTTTTTAAT) c.1186_1187insTATTTTTTTTTAAT (p.Gly396ValfsTer32) | |
13 | g.113149368_113149369insTTGTTTTTTTTAAT | CA2623810166 | F10 | c.1318_1319insTTGTTTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTTGTTTTTTTTAAT (n.*309_*310insTTGTTTTTTTTAAT) c.1186_1187insTTGTTTTTTTTAAT (p.Gly396ValfsTer32) | gnomAD v4 |
13 | g.113149368_113149369insTTTTGTTTTTTAAT | CA2800665265 | F10 | c.1318_1319insTTTTGTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTTTTGTTTTTTAAT (n.*309_*310insTTTTGTTTTTTAAT) c.1186_1187insTTTTGTTTTTTAAT (p.Gly396ValfsTer32) | |
13 | g.113149368_113149369insTTTTTTTTTTTAAT | CA612868376 | F10 | c.1318_1319insTTTTTTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTTTTTTTTTTTAAT (n.*309_*310insTTTTTTTTTTTAAT) c.1186_1187insTTTTTTTTTTTAAT (p.Gly396ValfsTer32) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149368_113149369insTTTTTTTTTTTACT | CA2623810171 | F10 | c.1318_1319insTTTTTTTTTTTACT (p.Gly440ValfsTer32) c.*309_*310insTTTTTTTTTTTACT (n.*309_*310insTTTTTTTTTTTACT) c.1186_1187insTTTTTTTTTTTACT (p.Gly396ValfsTer32) | gnomAD v4 |
13 | g.113149369G>A | CA388794236 | F10 | c.1319G>A (p.Gly440Glu) c.*310G>A (n.*310G>A) c.1187G>A (p.Gly396Glu) | gnomAD v4 |
13 | g.113149369G>C | CA388794238 | F10 | c.1319G>C (p.Gly440Ala) c.*310G>C (n.*310G>C) c.1187G>C (p.Gly396Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149369G= | CA2120140555 | F10 | c.1319G= (p.Gly440=) c.*310G= (n.*310G=) c.1187G= (p.Gly396=) | |
13 | g.113149369G>T | CA388794240 | F10 | c.1319G>T (p.Gly440Val) c.*310G>T (n.*310G>T) c.1187G>T (p.Gly396Val) | |
13 | g.113149369_113149370insTTTTTTTTTTAATG | CA612868375 | F10 | c.1319_1320insTTTTTTTTTTAATG (p.Glu441PhefsTer31) c.*310_*311insTTTTTTTTTTAATG (n.*310_*311insTTTTTTTTTTAATG) c.1187_1188insTTTTTTTTTTAATG (p.Glu397PhefsTer31) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149369_113149370insTTTTTTTTTTTAATG | CA2800665264 | F10 | c.1319_1320insTTTTTTTTTTTAATG (p.Gly441PhefsTer4) c.*310_*311insTTTTTTTTTTTAATG (n.*310_*311insTTTTTTTTTTTAATG) c.1187_1188insTTTTTTTTTTTAATG (p.Gly397PhefsTer4) | |
13 | g.113149369_113149370insTTTTTTTTTTAATC | CA2800665266 | F10 | c.1319_1320insTTTTTTTTTTAATC (p.Glu441PhefsTer31) c.*310_*311insTTTTTTTTTTAATC (n.*310_*311insTTTTTTTTTTAATC) c.1187_1188insTTTTTTTTTTAATC (p.Glu397PhefsTer31) | |
13 | g.113149370A>C | CA485424188 | F10 | c.1320A>C (p.Gly440=) c.*311A>C (n.*311A>C) c.1188A>C (p.Gly396=) | |
13 | g.113149370A>G | CA485424191 | F10 | c.1320A>G (p.Gly440=) c.*311A>G (n.*311A>G) c.1188A>G (p.Gly396=) | |
13 | g.113149370A>T | CA485424189 | F10 | c.1320A>T (p.Gly440=) c.*311A>T (n.*311A>T) c.1188A>T (p.Gly396=) | |
13 | g.113149370_113149376del | CA2623810182 | F10 | c.1320_1326del (p.Glu441ValfsTer24) c.*311_*317del (n.*311_*317del) c.1188_1194del (p.Glu397ValfsTer24) | gnomAD v4 |
13 | g.113149370_113149371insTTTTTTTTTAAT | CA2800665269 | F10 | c.1320_1321insTTTTTTTTTAAT (p.Gly440_Glu441insPhePhePheAsn) c.*311_*312insTTTTTTTTTAAT (n.*311_*312insTTTTTTTTTAAT) c.1188_1189insTTTTTTTTTAAT (p.Gly396_Glu397insPhePhePheAsn) | |
13 | g.113149371G>A | CA388794242 | F10 | c.1321G>A (p.Glu441Lys) c.*312G>A (n.*312G>A) c.1189G>A (p.Glu397Lys) | ClinVar dbSNP |
13 | g.113149371G>C | CA388794243 | F10 | c.1321G>C (p.Glu441Gln) c.*312G>C (n.*312G>C) c.1189G>C (p.Glu397Gln) | |
13 | g.113149371G= | CA2120140562 | F10 | c.1321G= (p.Glu441=) c.*312G= (n.*312G=) c.1189G= (p.Glu397=) | |
13 | g.113149371G>T | CA388794245 | F10 | c.1321G>T (p.Glu441Ter) c.*312G>T (n.*312G>T) c.1189G>T (p.Glu397Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |