17 | g.80108487A= | CA2277812778 | GAA | c.1076-2A= (n.1076-2A=)
| |
17 | g.80108487A>C | CA401364873 | GAA | c.1076-2A>C (n.1076-2A>C)
| |
17 | g.80108487A>G | CA16041887 | GAA | c.1076-2A>G (n.1076-2A>G)
| ClinVar dbSNP |
17 | g.80108487A>T | CA401364875 | GAA | c.1076-2A>T (n.1076-2A>T)
| |
17 | g.80108488G>A | CA401364877 | GAA | c.1076-1G>A (n.1076-1G>A)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80108488G>C | CA401364879 | GAA | c.1076-1G>C (n.1076-1G>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108488G= | CA2277812779 | GAA | c.1076-1G= (n.1076-1G=)
| |
17 | g.80108488G>T | CA401364881 | GAA | c.1076-1G>T (n.1076-1G>T)
| |
17 | g.80108489G>A | CA401364884 | GAA | c.1076G>A (p.Gly359Glu)
| |
17 | g.80108489G>C | CA401364887 | GAA | c.1076G>C (p.Gly359Ala)
| |
17 | g.80108489G>T | CA401364885 | GAA | c.1076G>T (p.Gly359Val)
| |
17 | g.80108490A>C | CA502402360 | GAA | c.1077A>C (p.Gly359=)
| |
17 | g.80108490A>G | CA502402361 | GAA | c.1077A>G (p.Gly359=)
| |
17 | g.80108490A>T | CA502402362 | GAA | c.1077A>T (p.Gly359=)
| |
17 | g.80108491T>A | CA401364889 | GAA | c.1078T>A (p.Tyr360Asn)
| |
17 | g.80108491T>C | CA401364890 | GAA | c.1078T>C (p.Tyr360His)
| |
17 | g.80108491T>G | CA401364891 | GAA | c.1078T>G (p.Tyr360Asp)
| |
17 | g.80108492A= | CA2277812780 | GAA | c.1079A= (p.Tyr360=)
| |
17 | g.80108492A>C | CA401364892 | GAA | c.1079A>C (p.Tyr360Ser)
| dbSNP |
17 | g.80108492A>G | CA401364895 | GAA | c.1079A>G (p.Tyr360Cys)
| |
17 | g.80108492A>T | CA401364896 | GAA | c.1079A>T (p.Tyr360Phe)
| gnomAD v4 |
17 | g.80108493C>A | CA401364898 | GAA | c.1080C>A (p.Tyr360Ter)
| |
17 | g.80108493C>G | CA401364900 | GAA | c.1080C>G (p.Tyr360Ter)
| |
17 | g.80108493C>T | CA502402366 | GAA | c.1080C>T (p.Tyr360=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108495dup | CA2573154954 | GAA | c.1082dup (p.Phe362ValfsTer?)
| ClinVar dbSNP |
17 | g.80108494C>A | CA401364902 | GAA | c.1081C>A (p.Pro361Thr)
| |
17 | g.80108494C= | CA2277812781 | GAA | c.1081C= (p.Pro361=)
| |
17 | g.80108494C>G | CA401364903 | GAA | c.1081C>G (p.Pro361Ala)
| |
17 | g.80108494C>T | CA294892083 | GAA | c.1081C>T (p.Pro361Ser)
| dbSNP gnomAD v4 |
17 | g.80108495C>A | CA401364908 | GAA | c.1082C>A (p.Pro361Gln)
| |
17 | g.80108495C= | CA2277812782 | GAA | c.1082C= (p.Pro361=)
| |
17 | g.80108495C>G | CA10606426 | GAA | c.1082C>G (p.Pro361Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108495C>T | CA8815163 | GAA | c.1082C>T (p.Pro361Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108496G>A | CA8815164 | GAA | c.1083G>A (p.Pro361=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108496G>C | CA502402369 | GAA | c.1083G>C (p.Pro361=)
| |
17 | g.80108496G= | CA2277812783 | GAA | c.1083G= (p.Pro361=)
| |
17 | g.80108496G>T | CA502402368 | GAA | c.1083G>T (p.Pro361=)
| |
17 | g.80108497T>A | CA401364910 | GAA | c.1084T>A (p.Phe362Ile)
| |
17 | g.80108497T>C | CA401364912 | GAA | c.1084T>C (p.Phe362Leu)
| |
17 | g.80108497T>G | CA401364914 | GAA | c.1084T>G (p.Phe362Val)
| gnomAD v4 |
17 | g.80108498T>A | CA401364916 | GAA | c.1085T>A (p.Phe362Tyr)
| |
17 | g.80108498T>C | CA401364918 | GAA | c.1085T>C (p.Phe362Ser)
| |
17 | g.80108498T>G | CA401364920 | GAA | c.1085T>G (p.Phe362Cys)
| |
17 | g.80108499C>A | CA401364924 | GAA | c.1086C>A (p.Phe362Leu)
| |
17 | g.80108499C>G | CA401364922 | GAA | c.1086C>G (p.Phe362Leu)
| gnomAD v4 |
17 | g.80108499C>T | CA502402371 | GAA | c.1086C>T (p.Phe362=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108500A= | CA2277812784 | GAA | c.1087A= (p.Met363=)
| |
17 | g.80108500A>C | CA401364926 | GAA | c.1087A>C (p.Met363Leu)
| |
17 | g.80108500A>G | CA401364927 | GAA | c.1087A>G (p.Met363Val)
| ClinVar dbSNP |
17 | g.80108500A>T | CA16622138 | GAA | c.1087A>T (p.Met363Leu)
| dbSNP gnomAD v4 |
17 | g.80108501T>A | CA401364928 | GAA | c.1088T>A (p.Met363Lys)
| |
17 | g.80108501T>C | CA401364929 | GAA | c.1088T>C (p.Met363Thr)
| |
17 | g.80108501T>G | CA8815165 | GAA | c.1088T>G (p.Met363Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108501T= | CA2277812785 | GAA | c.1088T= (p.Met363=)
| |
17 | g.80108502G>A | CA401364932 | GAA | c.1089G>A (p.Met363Ile)
| ClinVar |
17 | g.80108502G>C | CA401364930 | GAA | c.1089G>C (p.Met363Ile)
| |
17 | g.80108502G>T | CA401364931 | GAA | c.1089G>T (p.Met363Ile)
| gnomAD v4 |
17 | g.80108503C>A | CA401364933 | GAA | c.1090C>A (p.Pro364Thr)
| |
17 | g.80108503C= | CA2277812786 | GAA | c.1090C= (p.Pro364=)
| |
17 | g.80108503C>G | CA401364934 | GAA | c.1090C>G (p.Pro364Ala)
| |
17 | g.80108503C>T | CA401364935 | GAA | c.1090C>T (p.Pro364Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108504del | CA2573154955 | GAA | c.1091del (p.Pro364ArgfsTer28)
| ClinVar dbSNP |
17 | g.80108504C>A | CA401364936 | GAA | c.1091C>A (p.Pro364Gln)
| gnomAD v4 |
17 | g.80108504C= | CA2277812787 | GAA | c.1091C= (p.Pro364=)
| |
17 | g.80108504C>G | CA401364937 | GAA | c.1091C>G (p.Pro364Arg)
| |
17 | g.80108504C>T | CA8815166 | GAA | c.1091C>T (p.Pro364Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108505G>A | CA8815167 | GAA | c.1092G>A (p.Pro364=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108505G>C | CA502402377 | GAA | c.1092G>C (p.Pro364=)
| ClinVar gnomAD v4 |
17 | g.80108505G= | CA2277812788 | GAA | c.1092G= (p.Pro364=)
| |
17 | g.80108505G>T | CA502402378 | GAA | c.1092G>T (p.Pro364=)
| gnomAD v4 |
17 | g.80108506C>A | CA401364938 | GAA | c.1093C>A (p.Pro365Thr)
| |
17 | g.80108506C= | CA2277812789 | GAA | c.1093C= (p.Pro365=)
| |
17 | g.80108506C>G | CA401364939 | GAA | c.1093C>G (p.Pro365Ala)
| |
17 | g.80108506C>T | CA8815168 | GAA | c.1093C>T (p.Pro365Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108507C>A | CA401364940 | GAA | c.1094C>A (p.Pro365Gln)
| |
17 | g.80108507C>G | CA401364941 | GAA | c.1094C>G (p.Pro365Arg)
| |
17 | g.80108507C>T | CA401364942 | GAA | c.1094C>T (p.Pro365Leu)
| gnomAD v4 |
17 | g.80108508A= | CA2277812790 | GAA | c.1095A= (p.Pro365=)
| |
17 | g.80108508A>C | CA502402379 | GAA | c.1095A>C (p.Pro365=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108508A>G | CA502402380 | GAA | c.1095A>G (p.Pro365=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108508A>T | CA502402381 | GAA | c.1095A>T (p.Pro365=)
| |
17 | g.80108509T>A | CA401364943 | GAA | c.1096T>A (p.Tyr366Asn)
| |
17 | g.80108509T>C | CA8815169 | GAA | c.1096T>C (p.Tyr366His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108509T>G | CA401364944 | GAA | c.1096T>G (p.Tyr366Asp)
| |
17 | g.80108509T= | CA2277812791 | GAA | c.1096T= (p.Tyr366=)
| |
17 | g.80108510A>C | CA401364945 | GAA | c.1097A>C (p.Tyr366Ser)
| ClinVar dbSNP |
17 | g.80108510A>G | CA401364946 | GAA | c.1097A>G (p.Tyr366Cys)
| gnomAD v4 |
17 | g.80108510A>T | CA401364947 | GAA | c.1097A>T (p.Tyr366Phe)
| COSMIC |
17 | g.80108511C>A | CA401364948 | GAA | c.1098C>A (p.Tyr366Ter)
| |
17 | g.80108511C>G | CA401364949 | GAA | c.1098C>G (p.Tyr366Ter)
| |
17 | g.80108511C>T | CA502402382 | GAA | c.1098C>T (p.Tyr366=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108511_80108512delinsCT | CA2277812792 | GAA | c.1098_1099delinsCT (p.Tyr366=)
| |
17 | g.80108512del | CA16041888 | GAA | c.1099del (p.Trp367GlyfsTer25)
| ClinVar dbSNP |
17 | g.80108512T>A | CA401364950 | GAA | c.1099T>A (p.Trp367Arg)
| |
17 | g.80108512T>C | CA401364951 | GAA | c.1099T>C (p.Trp367Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108512T>G | CA401364952 | GAA | c.1099T>G (p.Trp367Gly)
| |
17 | g.80108512T= | CA2277812793 | GAA | c.1099T= (p.Trp367=)
| |
17 | g.80108513G>A | CA401364953 | GAA | c.1100G>A (p.Trp367Ter)
| ClinVar dbSNP gnomAD v2 |
17 | g.80108513G>C | CA401364954 | GAA | c.1100G>C (p.Trp367Ser)
| |
17 | g.80108513G= | CA2277812794 | GAA | c.1100G= (p.Trp367=)
| |
17 | g.80108513G>T | CA401364955 | GAA | c.1100G>T (p.Trp367Leu)
| |
17 | g.80108516dup | CA2840238259 | GAA | c.1103dup (p.Leu369ProfsTer?)
| |
17 | g.80108515_80108516del | CA2838388732 | GAA | c.1102_1103del (p.Gly368ProfsTer?)
| |
17 | g.80108514G>A | CA401364958 | GAA | c.1101G>A (p.Trp367Ter)
| |
17 | g.80108514G>C | CA401364957 | GAA | c.1101G>C (p.Trp367Cys)
| |
17 | g.80108514G>T | CA401364956 | GAA | c.1101G>T (p.Trp367Cys)
| |
17 | g.80108515G>A | CA8815170 | GAA | c.1102G>A (p.Gly368Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108515G>C | CA401364959 | GAA | c.1102G>C (p.Gly368Arg)
| |
17 | g.80108515G= | CA2277812795 | GAA | c.1102G= (p.Gly368=)
| |
17 | g.80108515G>T | CA294892167 | GAA | c.1102G>T (p.Gly368Cys)
| dbSNP |
17 | g.80108516G>A | CA294892175 | GAA | c.1103G>A (p.Gly368Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108516G>C | CA401364960 | GAA | c.1103G>C (p.Gly368Ala)
| |
17 | g.80108516G= | CA2277812796 | GAA | c.1103G= (p.Gly368=)
| |
17 | g.80108516G>T | CA8815171 | GAA | c.1103G>T (p.Gly368Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108517C>A | CA502402383 | GAA | c.1104C>A (p.Gly368=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108517C= | CA2277812797 | GAA | c.1104C= (p.Gly368=)
| |
17 | g.80108517C>G | CA502402384 | GAA | c.1104C>G (p.Gly368=)
| |
17 | g.80108517C>T | CA502402385 | GAA | c.1104C>T (p.Gly368=)
| ClinVar gnomAD v4 |
17 | g.80108518dup | CA2580095322 | GAA | c.1105dup (p.Leu369ProfsTer?)
| ClinVar |
17 | g.80108518C>A | CA401364961 | GAA | c.1105C>A (p.Leu369Met)
| |
17 | g.80108518C>G | CA401364962 | GAA | c.1105C>G (p.Leu369Val)
| gnomAD v4 |
17 | g.80108518C>T | CA502402386 | GAA | c.1105C>T (p.Leu369=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108519T>A | CA401364963 | GAA | c.1106T>A (p.Leu369Gln)
| ClinVar |
17 | g.80108519T>C | CA401364964 | GAA | c.1106T>C (p.Leu369Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108519T>G | CA401364965 | GAA | c.1106T>G (p.Leu369Arg)
| |
17 | g.80108519T= | CA2277812798 | GAA | c.1106T= (p.Leu369=)
| |
17 | g.80108520G>A | CA502402387 | GAA | c.1107G>A (p.Leu369=)
| ClinVar |
17 | g.80108520G>C | CA502402388 | GAA | c.1107G>C (p.Leu369=)
| ClinVar |
17 | g.80108520G= | CA2277812799 | GAA | c.1107G= (p.Leu369=)
| |
17 | g.80108520G>T | CA8815172 | GAA | c.1107G>T (p.Leu369=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108521G>A | CA401364966 | GAA | c.1108G>A (p.Gly370Ser)
| |
17 | g.80108521G>C | CA401364968 | GAA | c.1108G>C (p.Gly370Arg)
| |
17 | g.80108521G>T | CA401364967 | GAA | c.1108G>T (p.Gly370Cys)
| |
17 | g.80108522G>A | CA401364969 | GAA | c.1109G>A (p.Gly370Asp)
| ClinVar dbSNP |
17 | g.80108522G>C | CA401364971 | GAA | c.1109G>C (p.Gly370Ala)
| |
17 | g.80108522G= | CA2277812800 | GAA | c.1109G= (p.Gly370=)
| |
17 | g.80108522G>T | CA401364970 | GAA | c.1109G>T (p.Gly370Val)
| |
17 | g.80108523C>A | CA502402390 | GAA | c.1110C>A (p.Gly370=)
| |
17 | g.80108523C= | CA2277812801 | GAA | c.1110C= (p.Gly370=)
| |
17 | g.80108523C>G | CA8815173 | GAA | c.1110C>G (p.Gly370=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108523C>T | CA502402389 | GAA | c.1110C>T (p.Gly370=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108524T>A | CA401364972 | GAA | c.1111T>A (p.Phe371Ile)
| |
17 | g.80108524T>C | CA401364973 | GAA | c.1111T>C (p.Phe371Leu)
| |
17 | g.80108524T>G | CA401364974 | GAA | c.1111T>G (p.Phe371Val)
| |
17 | g.80108525T>A | CA401364975 | GAA | c.1112T>A (p.Phe371Tyr)
| |
17 | g.80108525T>C | CA401364976 | GAA | c.1112T>C (p.Phe371Ser)
| |
17 | g.80108525T>G | CA401364977 | GAA | c.1112T>G (p.Phe371Cys)
| |
17 | g.80108526C>A | CA401364978 | GAA | c.1113C>A (p.Phe371Leu)
| |
17 | g.80108526C>G | CA401364979 | GAA | c.1113C>G (p.Phe371Leu)
| |
17 | g.80108526C>T | CA502402391 | GAA | c.1113C>T (p.Phe371=)
| |
17 | g.80108527C>A | CA401364980 | GAA | c.1114C>A (p.His372Asn)
| |
17 | g.80108527C= | CA2277812802 | GAA | c.1114C= (p.His372=)
| |
17 | g.80108527C>G | CA401364981 | GAA | c.1114C>G (p.His372Asp)
| dbSNP |
17 | g.80108527C>T | CA401364982 | GAA | c.1114C>T (p.His372Tyr)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108528A= | CA2277812803 | GAA | c.1115A= (p.His372=)
| |
17 | g.80108528A>C | CA401364983 | GAA | c.1115A>C (p.His372Pro)
| |
17 | g.80108528A>G | CA401364984 | GAA | c.1115A>G (p.His372Arg)
| |
17 | g.80108528A>T | CA16041889 | GAA | c.1115A>T (p.His372Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108529C>A | CA401364985 | GAA | c.1116C>A (p.His372Gln)
| dbSNP |
17 | g.80108529C= | CA2277812804 | GAA | c.1116C= (p.His372=)
| |
17 | g.80108529C>G | CA401364986 | GAA | c.1116C>G (p.His372Gln)
| |
17 | g.80108529C>T | CA8815174 | GAA | c.1116C>T (p.His372=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108530dup | CA2840238260 | GAA | c.1117dup (p.Leu373ProfsTer?)
| |
17 | g.80108530del | CA2695200353 | GAA | c.1117del (p.Leu373CysfsTer19)
| ClinVar |
17 | g.80108530C>A | CA401364987 | GAA | c.1117C>A (p.Leu373Met)
| |
17 | g.80108530C>G | CA401364988 | GAA | c.1117C>G (p.Leu373Val)
| |
17 | g.80108530C>T | CA502402392 | GAA | c.1117C>T (p.Leu373=)
| |
17 | g.80108531T>A | CA401364989 | GAA | c.1118T>A (p.Leu373Gln)
| |
17 | g.80108531T>C | CA401364990 | GAA | c.1118T>C (p.Leu373Pro)
| |
17 | g.80108531T>G | CA401364991 | GAA | c.1118T>G (p.Leu373Arg)
| ClinVar dbSNP |
17 | g.80108531T= | CA2277812805 | GAA | c.1118T= (p.Leu373=)
| |
17 | g.80108532G>A | CA8815175 | GAA | c.1119G>A (p.Leu373=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108532G>C | CA502402393 | GAA | c.1119G>C (p.Leu373=)
| |
17 | g.80108532G= | CA2277812806 | GAA | c.1119G= (p.Leu373=)
| |
17 | g.80108532G>T | CA502402394 | GAA | c.1119G>T (p.Leu373=)
| |
17 | g.80108533T>A | CA401364993 | GAA | c.1120T>A (p.Cys374Ser)
| |
17 | g.80108533T>C | CA401364994 | GAA | c.1120T>C (p.Cys374Arg)
| |
17 | g.80108533T>G | CA401364992 | GAA | c.1120T>G (p.Cys374Gly)
| |
17 | g.80108534G>A | CA401364995 | GAA | c.1121G>A (p.Cys374Tyr)
| dbSNP |
17 | g.80108534G>C | CA401364996 | GAA | c.1121G>C (p.Cys374Ser)
| |
17 | g.80108534G= | CA2277812807 | GAA | c.1121G= (p.Cys374=)
| |
17 | g.80108534G>T | CA401364997 | GAA | c.1121G>T (p.Cys374Phe)
| |
17 | g.80108535C>A | CA401364998 | GAA | c.1122C>A (p.Cys374Ter)
| |
17 | g.80108535C= | CA2277812808 | GAA | c.1122C= (p.Cys374=)
| |
17 | g.80108535C>G | CA401364999 | GAA | c.1122C>G (p.Cys374Trp)
| |
17 | g.80108535C>T | CA502402395 | GAA | c.1122C>T (p.Cys374=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108536C>A | CA401365001 | GAA | c.1123C>A (p.Arg375Ser)
| ClinVar gnomAD v4 |
17 | g.80108536C= | CA2277812809 | GAA | c.1123C= (p.Arg375=)
| |
17 | g.80108536C>G | CA401365000 | GAA | c.1123C>G (p.Arg375Gly)
| |
17 | g.80108536C>T | CA8815176 | GAA | c.1123C>T (p.Arg375Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108537G>A | CA8815177 | GAA | c.1124G>A (p.Arg375His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108537G>C | CA401365002 | GAA | c.1124G>C (p.Arg375Pro)
| gnomAD v4 |
17 | g.80108537G= | CA2277812810 | GAA | c.1124G= (p.Arg375=)
| |
17 | g.80108537G>T | CA8815178 | GAA | c.1124G>T (p.Arg375Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108538C>A | CA502402396 | GAA | c.1125C>A (p.Arg375=)
| |
17 | g.80108538C>G | CA502402397 | GAA | c.1125C>G (p.Arg375=)
| |
17 | g.80108538C>T | CA502402398 | GAA | c.1125C>T (p.Arg375=)
| |
17 | g.80108539T>A | CA401365003 | GAA | c.1126T>A (p.Trp376Arg)
| |
17 | g.80108539T>C | CA401365004 | GAA | c.1126T>C (p.Trp376Arg)
| |
17 | g.80108539T>G | CA401365005 | GAA | c.1126T>G (p.Trp376Gly)
| |
17 | g.80108539_80108540delinsTG | CA2277812811 | GAA | c.1126_1127delinsTG (p.Trp376=)
| |
17 | g.80108540G>A | CA401365006 | GAA | c.1127G>A (p.Trp376Ter)
| |
17 | g.80108540G>C | CA401365008 | GAA | c.1127G>C (p.Trp376Ser)
| |
17 | g.80108540G>T | CA401365007 | GAA | c.1127G>T (p.Trp376Leu)
| |
17 | g.80108540_80108542delinsGGG | CA2277812812 | GAA | c.1127_1129delinsGGG (p.Trp376=)
| |
17 | g.80108540_80108543del | CA2695227077 | GAA | c.1127_1130del (p.Trp376SerfsTer15)
| |
17 | g.80108543del | CA8815179 | GAA | c.1130del (p.Gly377AlafsTer15)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108540_80108541insC | CA1139532165 | GAA | c.1127_1128insC (p.Trp376CysfsTer?)
| |
17 | g.80108541G>A | CA401365009 | GAA | c.1128G>A (p.Trp376Ter)
| |
17 | g.80108541G>C | CA401365010 | GAA | c.1128G>C (p.Trp376Cys)
| |
17 | g.80108541G>T | CA401365011 | GAA | c.1128G>T (p.Trp376Cys)
| |
17 | g.80108541_80108542delinsC | CA274311 | GAA | c.1128_1129delinsC (p.Trp376CysfsTer16)
| ClinVar dbSNP |
17 | g.80108542G>A | CA401365012 | GAA | c.1129G>A (p.Gly377Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108542G>C | CA8815180 | GAA | c.1129G>C (p.Gly377Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108542G= | CA2277812813 | GAA | c.1129G= (p.Gly377=)
| |
17 | g.80108542G>T | CA401365013 | GAA | c.1129G>T (p.Gly377Cys)
| ClinVar dbSNP gnomAD v2 |
17 | g.80108542_80108543delinsC | CA2573054601 | GAA | c.1129_1130delinsC (p.Gly377ProfsTer15)
| dbSNP |
17 | g.80108543G>A | CA401365014 | GAA | c.1130G>A (p.Gly377Asp)
| |
17 | g.80108543G>C | CA401365015 | GAA | c.1130G>C (p.Gly377Ala)
| |
17 | g.80108543G>T | CA401365016 | GAA | c.1130G>T (p.Gly377Val)
| |
17 | g.80108544C>A | CA502402399 | GAA | c.1131C>A (p.Gly377=)
| |
17 | g.80108544C>G | CA502402400 | GAA | c.1131C>G (p.Gly377=)
| |
17 | g.80108544C>T | CA502402401 | GAA | c.1131C>T (p.Gly377=)
| |
17 | g.80108545del | CA2640286093 | GAA | c.1132del (p.Tyr378ThrfsTer14)
| gnomAD v4 |
17 | g.80108545T>A | CA401365019 | GAA | c.1132T>A (p.Tyr378Asn)
| ClinVar |
17 | g.80108545T>C | CA401365018 | GAA | c.1132T>C (p.Tyr378His)
| gnomAD v4 |
17 | g.80108545T>G | CA401365017 | GAA | c.1132T>G (p.Tyr378Asp)
| gnomAD v4 |
17 | g.80108545_80108549delinsGGCTA | CA915952250 | GAA | c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
| ClinVar dbSNP |
17 | g.80108545_80108549delinsTACTC | CA2277812814 | GAA | c.1132_1136delinsTACTC (p.Tyr378=)
| |
17 | g.80108546A= | CA2277812815 | GAA | c.1133A= (p.Tyr378=)
| |
17 | g.80108546A>C | CA401365020 | GAA | c.1133A>C (p.Tyr378Ser)
| |
17 | g.80108546A>G | CA294892229 | GAA | c.1133A>G (p.Tyr378Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108546A>T | CA401365021 | GAA | c.1133A>T (p.Tyr378Phe)
| |
17 | g.80108547C>A | CA401365022 | GAA | c.1134C>A (p.Tyr378Ter)
| ClinVar dbSNP |
17 | g.80108547C= | CA2277812816 | GAA | c.1134C= (p.Tyr378=)
| |
17 | g.80108547C>G | CA401365023 | GAA | c.1134C>G (p.Tyr378Ter)
| ClinVar dbSNP |
17 | g.80108547C>T | CA502402402 | GAA | c.1134C>T (p.Tyr378=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108551_80108553del | CA2580612671 | GAA | c.1138_1140del (p.Ser380del)
| ClinVar |
17 | g.80108548T>A | CA401365024 | GAA | c.1135T>A (p.Ser379Thr)
| |
17 | g.80108548T>C | CA401365025 | GAA | c.1135T>C (p.Ser379Pro)
| |
17 | g.80108548T>G | CA401365026 | GAA | c.1135T>G (p.Ser379Ala)
| gnomAD v4 |
17 | g.80108549C>A | CA294892232 | GAA | c.1136C>A (p.Ser379Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108549C= | CA2277812817 | GAA | c.1136C= (p.Ser379=)
| |
17 | g.80108549C>G | CA401365027 | GAA | c.1136C>G (p.Ser379Cys)
| |
17 | g.80108549C>T | CA294892234 | GAA | c.1136C>T (p.Ser379Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108550C>A | CA502402403 | GAA | c.1137C>A (p.Ser379=)
| |
17 | g.80108550C= | CA2277812818 | GAA | c.1137C= (p.Ser379=)
| |
17 | g.80108550C>G | CA502402405 | GAA | c.1137C>G (p.Ser379=)
| ClinVar dbSNP |
17 | g.80108550C>T | CA502402404 | GAA | c.1137C>T (p.Ser379=)
| dbSNP |
17 | g.80108551del | CA2810576493 | GAA | c.1138del (p.Ser380ProfsTer12)
| |
17 | g.80108551T>A | CA401365028 | GAA | c.1138T>A (p.Ser380Thr)
| |
17 | g.80108551T>C | CA401365029 | GAA | c.1138T>C (p.Ser380Pro)
| |
17 | g.80108551T>G | CA401365030 | GAA | c.1138T>G (p.Ser380Ala)
| |
17 | g.80108552C>A | CA401365031 | GAA | c.1139C>A (p.Ser380Tyr)
| |
17 | g.80108552C= | CA2277812819 | GAA | c.1139C= (p.Ser380=)
| |
17 | g.80108552C>G | CA401365032 | GAA | c.1139C>G (p.Ser380Cys)
| |
17 | g.80108552C>T | CA401365033 | GAA | c.1139C>T (p.Ser380Phe)
| dbSNP |
17 | g.80108553C>A | CA502402406 | GAA | c.1140C>A (p.Ser380=)
| ClinVar dbSNP |
17 | g.80108553C= | CA2277812820 | GAA | c.1140C= (p.Ser380=)
| |
17 | g.80108553C>G | CA502402407 | GAA | c.1140C>G (p.Ser380=)
| |
17 | g.80108553C>T | CA502402408 | GAA | c.1140C>T (p.Ser380=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108554A>C | CA401365036 | GAA | c.1141A>C (p.Thr381Pro)
| |
17 | g.80108554A>G | CA401365035 | GAA | c.1141A>G (p.Thr381Ala)
| |
17 | g.80108554A>T | CA401365034 | GAA | c.1141A>T (p.Thr381Ser)
| |
17 | g.80108554_80108555delinsAC | CA2277812821 | GAA | c.1141_1142delinsAC (p.Thr381=)
| |
17 | g.80108555C>A | CA401365037 | GAA | c.1142C>A (p.Thr381Asn)
| |
17 | g.80108555C>G | CA401365038 | GAA | c.1142C>G (p.Thr381Ser)
| |
17 | g.80108555C>T | CA401365039 | GAA | c.1142C>T (p.Thr381Ile)
| |
17 | g.80108556dup | CA2839076644 | GAA | c.1143dup (p.Ala382ArgfsTer?)
| |
17 | g.80108556del | CA8815181 | GAA | c.1143del (p.Ala382LeufsTer10)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108556C>A | CA502402409 | GAA | c.1143C>A (p.Thr381=)
| |
17 | g.80108556C= | CA2277812822 | GAA | c.1143C= (p.Thr381=)
| |
17 | g.80108556C>G | CA294892260 | GAA | c.1143C>G (p.Thr381=)
| dbSNP |
17 | g.80108556C>T | CA8815182 | GAA | c.1143C>T (p.Thr381=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108556_80108557insTAG | CA2640286107 | GAA | c.1143_1144insTAG
| gnomAD v4 |
17 | g.80108557G>A | CA401365040 | GAA | c.1144G>A (p.Ala382Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108557G>C | CA401365041 | GAA | c.1144G>C (p.Ala382Pro)
| |
17 | g.80108557G= | CA2277812823 | GAA | c.1144G= (p.Ala382=)
| |
17 | g.80108557G>T | CA401365042 | GAA | c.1144G>T (p.Ala382Ser)
| gnomAD v4 COSMIC |
17 | g.80108558C>A | CA401365043 | GAA | c.1145C>A (p.Ala382Asp)
| |
17 | g.80108558C= | CA2277812824 | GAA | c.1145C= (p.Ala382=)
| |
17 | g.80108558C>G | CA401365044 | GAA | c.1145C>G (p.Ala382Gly)
| dbSNP |
17 | g.80108558C>T | CA401365045 | GAA | c.1145C>T (p.Ala382Val)
| |
17 | g.80108559T>A | CA502402411 | GAA | c.1146T>A (p.Ala382=)
| |
17 | g.80108559T>C | CA502402412 | GAA | c.1146T>C (p.Ala382=)
| |
17 | g.80108559T>G | CA502402410 | GAA | c.1146T>G (p.Ala382=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108559T= | CA2277812825 | GAA | c.1146T= (p.Ala382=)
| |
17 | g.80108560A= | CA2277812826 | GAA | c.1147A= (p.Ile383=)
| |
17 | g.80108560A>C | CA401365047 | GAA | c.1147A>C (p.Ile383Leu)
| |
17 | g.80108560A>G | CA247028 | GAA | c.1147A>G (p.Ile383Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108560A>T | CA401365046 | GAA | c.1147A>T (p.Ile383Phe)
| |
17 | g.80108561T>A | CA401365048 | GAA | c.1148T>A (p.Ile383Asn)
| |
17 | g.80108561T>C | CA401365049 | GAA | c.1148T>C (p.Ile383Thr)
| gnomAD v4 |
17 | g.80108561T>G | CA401365050 | GAA | c.1148T>G (p.Ile383Ser)
| |
17 | g.80108562C>A | CA502402414 | GAA | c.1149C>A (p.Ile383=)
| |
17 | g.80108562C>G | CA401365051 | GAA | c.1149C>G (p.Ile383Met)
| gnomAD v4 |
17 | g.80108562C>T | CA502402413 | GAA | c.1149C>T (p.Ile383=)
| ClinVar COSMIC |
17 | g.80108563A= | CA2277812828 | GAA | c.1150A= (p.Thr384=)
| |
17 | g.80108563A>C | CA401365052 | GAA | c.1150A>C (p.Thr384Pro)
| dbSNP gnomAD v4 |
17 | g.80108563A>G | CA401365053 | GAA | c.1150A>G (p.Thr384Ala)
| gnomAD v4 |
17 | g.80108563A>T | CA401365054 | GAA | c.1150A>T (p.Thr384Ser)
| |
17 | g.80108563_80108564delinsAC | CA2277812827 | GAA | c.1150_1151delinsAC (p.Thr384=)
| |
17 | g.80108564C>A | CA401365055 | GAA | c.1151C>A (p.Thr384Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108564C= | CA2277812829 | GAA | c.1151C= (p.Thr384=)
| |
17 | g.80108564C>G | CA401365056 | GAA | c.1151C>G (p.Thr384Ser)
| |
17 | g.80108564C>T | CA401365057 | GAA | c.1151C>T (p.Thr384Ile)
| dbSNP |
17 | g.80108566del | CA658798978 | GAA | c.1153del (p.Arg385AlafsTer7)
| ClinVar dbSNP |
17 | g.80108565C>A | CA502402415 | GAA | c.1152C>A (p.Thr384=)
| |
17 | g.80108565C>G | CA502402417 | GAA | c.1152C>G (p.Thr384=)
| |
17 | g.80108565C>T | CA502402416 | GAA | c.1152C>T (p.Thr384=)
| |
17 | g.80108566C>A | CA401365059 | GAA | c.1153C>A (p.Arg385Ser)
| |
17 | g.80108566C= | CA2277812830 | GAA | c.1153C= (p.Arg385=)
| |
17 | g.80108566C>G | CA401365058 | GAA | c.1153C>G (p.Arg385Gly)
| |
17 | g.80108566C>T | CA8815183 | GAA | c.1153C>T (p.Arg385Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108567G>A | CA8815184 | GAA | c.1154G>A (p.Arg385His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108567G>C | CA401365060 | GAA | c.1154G>C (p.Arg385Pro)
| |
17 | g.80108567G= | CA2277812831 | GAA | c.1154G= (p.Arg385=)
| |
17 | g.80108567G>T | CA401365061 | GAA | c.1154G>T (p.Arg385Leu)
| gnomAD v4 |
17 | g.80108568C>A | CA502402418 | GAA | c.1155C>A (p.Arg385=)
| COSMIC |
17 | g.80108568C>G | CA502402419 | GAA | c.1155C>G (p.Arg385=)
| ClinVar |
17 | g.80108568C>T | CA502402420 | GAA | c.1155C>T (p.Arg385=)
| ClinVar dbSNP |
17 | g.80108569C>A | CA401365062 | GAA | c.1156C>A (p.Gln386Lys)
| |
17 | g.80108569C= | CA2277812832 | GAA | c.1156C= (p.Gln386=)
| |
17 | g.80108569C>G | CA401365063 | GAA | c.1156C>G (p.Gln386Glu)
| |
17 | g.80108569C>T | CA274049 | GAA | c.1156C>T (p.Gln386Ter)
| ClinVar dbSNP |
17 | g.80108570A= | CA2277812834 | GAA | c.1157A= (p.Gln386=)
| |
17 | g.80108570A>C | CA401365064 | GAA | c.1157A>C (p.Gln386Pro)
| |
17 | g.80108570A>G | CA401365065 | GAA | c.1157A>G (p.Gln386Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108570A>T | CA401365066 | GAA | c.1157A>T (p.Gln386Leu)
| |
17 | g.80108570dup | CA658655614 | GAA | c.1157dup (p.Val387GlyfsTer?)
| |
17 | g.80108570_80108573delinsAGGT | CA2277812833 | GAA | c.1157_1160delinsAGGT (p.Gln386=)
| |
17 | g.80108571G>A | CA502402421 | GAA | c.1158G>A (p.Gln386=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108571G>C | CA401365067 | GAA | c.1158G>C (p.Gln386His)
| |
17 | g.80108571G= | CA2277812835 | GAA | c.1158G= (p.Gln386=)
| |
17 | g.80108571G>T | CA401365068 | GAA | c.1158G>T (p.Gln386His)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108576_80108578del | CA8815185 | GAA | c.1163_1165del (p.Val388del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108572G>A | CA401365070 | GAA | c.1159G>A (p.Val387Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108572G>C | CA401365071 | GAA | c.1159G>C (p.Val387Leu)
| gnomAD v4 |
17 | g.80108572G= | CA2277812836 | GAA | c.1159G= (p.Val387=)
| |
17 | g.80108572G>T | CA401365069 | GAA | c.1159G>T (p.Val387Leu)
| |
17 | g.80108573T>A | CA401365074 | GAA | c.1160T>A (p.Val387Glu)
| |
17 | g.80108573T>C | CA401365072 | GAA | c.1160T>C (p.Val387Ala)
| ClinVar gnomAD v4 |
17 | g.80108573T>G | CA401365073 | GAA | c.1160T>G (p.Val387Gly)
| |
17 | g.80108574G>A | CA502402422 | GAA | c.1161G>A (p.Val387=)
| |
17 | g.80108574G>C | CA8815186 | GAA | c.1161G>C (p.Val387=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108574G= | CA2277812837 | GAA | c.1161G= (p.Val387=)
| |
17 | g.80108574G>T | CA502402423 | GAA | c.1161G>T (p.Val387=)
| |
17 | g.80108575G>A | CA8815187 | GAA | c.1162G>A (p.Val388Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108575G>C | CA401365075 | GAA | c.1162G>C (p.Val388Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108575G= | CA2277812838 | GAA | c.1162G= (p.Val388=)
| |
17 | g.80108575G>T | CA401365076 | GAA | c.1162G>T (p.Val388Leu)
| |
17 | g.80108576_80108577del | CA913014093 | GAA | c.1163_1164del (p.Val388GlyfsTer?)
| |
17 | g.80108576T>A | CA401365077 | GAA | c.1163T>A (p.Val388Glu)
| gnomAD v4 |
17 | g.80108576T>C | CA401365078 | GAA | c.1163T>C (p.Val388Ala)
| |
17 | g.80108576T>G | CA401365079 | GAA | c.1163T>G (p.Val388Gly)
| |
17 | g.80108576_80108577delinsTG | CA2277812839 | GAA | c.1163_1164delinsTG (p.Val388=)
| |
17 | g.80108577G>A | CA502402424 | GAA | c.1164G>A (p.Val388=)
| ClinVar dbSNP |
17 | g.80108577G>C | CA502402425 | GAA | c.1164G>C (p.Val388=)
| |
17 | g.80108577G>T | CA502402426 | GAA | c.1164G>T (p.Val388=)
| |
17 | g.80108578del | CA658795242 | GAA | c.1165del (p.Glu389ArgfsTer3)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108578G>A | CA8815188 | GAA | c.1165G>A (p.Glu389Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108578G>C | CA401365080 | GAA | c.1165G>C (p.Glu389Gln)
| |
17 | g.80108578G= | CA2277812840 | GAA | c.1165G= (p.Glu389=)
| |
17 | g.80108578G>T | CA401365081 | GAA | c.1165G>T (p.Glu389Ter)
| |
17 | g.80108579A>C | CA401365084 | GAA | c.1166A>C (p.Glu389Ala)
| |
17 | g.80108579A>G | CA401365082 | GAA | c.1166A>G (p.Glu389Gly)
| |
17 | g.80108579A>T | CA401365083 | GAA | c.1166A>T (p.Glu389Val)
| |
17 | g.80108580G>A | CA502402427 | GAA | c.1167G>A (p.Glu389=)
| |
17 | g.80108580G>C | CA401365085 | GAA | c.1167G>C (p.Glu389Asp)
| |
17 | g.80108580G>T | CA401365086 | GAA | c.1167G>T (p.Glu389Asp)
| |
17 | g.80108581A>C | CA401365087 | GAA | c.1168A>C (p.Asn390His)
| |
17 | g.80108581A>G | CA401365088 | GAA | c.1168A>G (p.Asn390Asp)
| |
17 | g.80108581A>T | CA401365089 | GAA | c.1168A>T (p.Asn390Tyr)
| |
17 | g.80108582A>C | CA401365090 | GAA | c.1169A>C (p.Asn390Thr)
| gnomAD v4 |
17 | g.80108582A>G | CA401365091 | GAA | c.1169A>G (p.Asn390Ser)
| |
17 | g.80108582A>T | CA401365092 | GAA | c.1169A>T (p.Asn390Ile)
| |
17 | g.80108583C>A | CA401365093 | GAA | c.1170C>A (p.Asn390Lys)
| |
17 | g.80108583C= | CA2277812841 | GAA | c.1170C= (p.Asn390=)
| |
17 | g.80108583C>G | CA401365094 | GAA | c.1170C>G (p.Asn390Lys)
| gnomAD v4 |
17 | g.80108583C>T | CA8815189 | GAA | c.1170C>T (p.Asn390=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108584A= | CA2277812842 | GAA | c.1171A= (p.Met391=)
| |
17 | g.80108584A>C | CA401365096 | GAA | c.1171A>C (p.Met391Leu)
| |
17 | g.80108584A>G | CA8815190 | GAA | c.1171A>G (p.Met391Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108584A>T | CA401365095 | GAA | c.1171A>T (p.Met391Leu)
| |
17 | g.80108585T>A | CA401365097 | GAA | c.1172T>A (p.Met391Lys)
| ClinVar |
17 | g.80108585T>C | CA8815191 | GAA | c.1172T>C (p.Met391Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108585T>G | CA401365098 | GAA | c.1172T>G (p.Met391Arg)
| |
17 | g.80108585T= | CA2277812843 | GAA | c.1172T= (p.Met391=)
| |
17 | g.80108586G>A | CA401365099 | GAA | c.1173G>A (p.Met391Ile)
| ClinVar dbSNP COSMIC |
17 | g.80108586G>C | CA401365100 | GAA | c.1173G>C (p.Met391Ile)
| |
17 | g.80108586G>T | CA401365101 | GAA | c.1173G>T (p.Met391Ile)
| |
17 | g.80108587A>C | CA401365104 | GAA | c.1174A>C (p.Thr392Pro)
| |
17 | g.80108587A>G | CA401365102 | GAA | c.1174A>G (p.Thr392Ala)
| COSMIC |
17 | g.80108587A>T | CA401365103 | GAA | c.1174A>T (p.Thr392Ser)
| |