17 | g.80108386_80108456del | CA2695227076 | GAA | c.1052_1076-33del
| |
17 | g.80108432G>A | CA8815148 | GAA | c.1075+23G>A (n.1075+23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108432G= | CA2277812732 | GAA | c.1075+23G= (n.1075+23G=)
| |
17 | g.80108432G>T | CA986705749 | GAA | c.1075+23G>T (n.1075+23G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108433G>C | CA2277812734 | GAA | c.1075+24G>C (n.1075+24G>C)
| dbSNP |
17 | g.80108433G= | CA2277812733 | GAA | c.1075+24G= (n.1075+24G=)
| |
17 | g.80108438_80108443dup | CA2640285795 | GAA | c.1075+29_1075+34dup (n.1075+29_1075+34dup)
| gnomAD v4 |
17 | g.80108434C>T | CA2640285801 | GAA | c.1075+25C>T (n.1075+25C>T)
| gnomAD v4 |
17 | g.80108438del | CA2640285798 | GAA | c.1075+29del (n.1075+29del)
| gnomAD v4 |
17 | g.80108436C>G | CA2640285802 | GAA | c.1075+27C>G (n.1075+27C>G)
| gnomAD v4 |
17 | g.80108437C>T | CA2640285803 | GAA | c.1075+28C>T (n.1075+28C>T)
| gnomAD v4 |
17 | g.80108438C>A | CA294891991 | GAA | c.1075+29C>A (n.1075+29C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108438C= | CA2277812735 | GAA | c.1075+29C= (n.1075+29C=)
| |
17 | g.80108438C>T | CA8815149 | GAA | c.1075+29C>T (n.1075+29C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108439G>A | CA8815150 | GAA | c.1075+30G>A (n.1075+30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108439G>C | CA8815151 | GAA | c.1075+30G>C (n.1075+30G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108439G= | CA2277812736 | GAA | c.1075+30G= (n.1075+30G=)
| |
17 | g.80108439G>T | CA2640285814 | GAA | c.1075+30G>T (n.1075+30G>T)
| gnomAD v4 |
17 | g.80108441C>A | CA8815152 | GAA | c.1075+32C>A (n.1075+32C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108441C= | CA2277812737 | GAA | c.1075+32C= (n.1075+32C=)
| |
17 | g.80108441C>T | CA2277812738 | GAA | c.1075+32C>T (n.1075+32C>T)
| dbSNP |
17 | g.80108442C>T | CA2640285818 | GAA | c.1075+33C>T (n.1075+33C>T)
| gnomAD v4 |
17 | g.80108443C= | CA2277812739 | GAA | c.1075+34C= (n.1075+34C=)
| |
17 | g.80108443C>T | CA986705755 | GAA | c.1075+34C>T (n.1075+34C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108444A>G | CA2640285822 | GAA | c.1075+35A>G (n.1075+35A>G)
| gnomAD v4 |
17 | g.80108444A>T | CA2640285823 | GAA | c.1075+35A>T (n.1075+35A>T)
| gnomAD v4 |
17 | g.80108445A= | CA2277812740 | GAA | c.1075+36A= (n.1075+36A=)
| |
17 | g.80108445A>C | CA294891994 | GAA | c.1075+36A>C (n.1075+36A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108445A>G | CA294892006 | GAA | c.1075+36A>G (n.1075+36A>G)
| dbSNP gnomAD v4 |
17 | g.80108447G>C | CA2810576473 | GAA | c.1075+38G>C (n.1075+38G>C)
| |
17 | g.80108447G= | CA2277812741 | GAA | c.1075+38G= (n.1075+38G=)
| |
17 | g.80108447G>T | CA2277812742 | GAA | c.1075+38G>T (n.1075+38G>T)
| dbSNP |
17 | g.80108448C= | CA2277812743 | GAA | c.1075+39C= (n.1075+39C=)
| |
17 | g.80108448C>T | CA2277812744 | GAA | c.1075+39C>T (n.1075+39C>T)
| dbSNP gnomAD v4 |
17 | g.80108449T>C | CA8815153 | GAA | c.1076-40T>C (n.1076-40T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108449T= | CA2277812745 | GAA | c.1076-40T= (n.1076-40T=)
| |
17 | g.80108450C= | CA2277812746 | GAA | c.1076-39C= (n.1076-39C=)
| |
17 | g.80108450C>G | CA8815154 | GAA | c.1076-39C>G (n.1076-39C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108450C>T | CA2277812747 | GAA | c.1076-39C>T (n.1076-39C>T)
| dbSNP gnomAD v4 |
17 | g.80108451C= | CA2277812748 | GAA | c.1076-38C= (n.1076-38C=)
| |
17 | g.80108451C>T | CA775512299 | GAA | c.1076-38C>T (n.1076-38C>T)
| dbSNP |
17 | g.80108452C>A | CA2810576474 | GAA | c.1076-37C>A (n.1076-37C>A)
| |
17 | g.80108452C= | CA2277812749 | GAA | c.1076-37C= (n.1076-37C=)
| |
17 | g.80108452C>G | CA2576414015 | GAA | c.1076-37C>G (n.1076-37C>G)
| gnomAD v4 |
17 | g.80108452C>T | CA628018368 | GAA | c.1076-37C>T (n.1076-37C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108453T>A | CA2640285826 | GAA | c.1076-36T>A (n.1076-36T>A)
| gnomAD v4 |
17 | g.80108453T= | CA2277812750 | GAA | c.1076-36T= (n.1076-36T=)
| |
17 | g.80108453dup | CA2840238258 | GAA | c.1076-36dup (n.1076-36dup)
| |
17 | g.80108454C= | CA2277812752 | GAA | c.1076-35C= (n.1076-35C=)
| |
17 | g.80108454C>T | CA2277812753 | GAA | c.1076-35C>T (n.1076-35C>T)
| dbSNP gnomAD v4 |
17 | g.80108462_80108465dup | CA2277812751 | GAA | c.1076-27_1076-24dup (n.1076-27_1076-24dup)
| dbSNP gnomAD v4 |
17 | g.80108455C= | CA2277812754 | GAA | c.1076-34C= (n.1076-34C=)
| |
17 | g.80108455C>G | CA2839537752 | GAA | c.1076-34C>G (n.1076-34C>G)
| |
17 | g.80108455C>T | CA775512310 | GAA | c.1076-34C>T (n.1076-34C>T)
| dbSNP gnomAD v4 |
17 | g.80108456T>A | CA628018369 | GAA | c.1076-33T>A (n.1076-33T>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108456T= | CA2277812755 | GAA | c.1076-33T= (n.1076-33T=)
| |
17 | g.80108457C= | CA2277812756 | GAA | c.1076-32C= (n.1076-32C=)
| |
17 | g.80108457C>G | CA2555945109 | GAA | c.1076-32C>G (n.1076-32C>G)
| |
17 | g.80108457C>T | CA775512325 | GAA | c.1076-32C>T (n.1076-32C>T)
| dbSNP gnomAD v4 |
17 | g.80108458C= | CA2277812757 | GAA | c.1076-31C= (n.1076-31C=)
| |
17 | g.80108458C>G | CA8815155 | GAA | c.1076-31C>G (n.1076-31C>G)
| dbSNP ExAC gnomAD v2 |
17 | g.80108458C>T | CA2640285835 | GAA | c.1076-31C>T (n.1076-31C>T)
| gnomAD v4 |
17 | g.80108459C>A | CA2576414016 | GAA | c.1076-30C>A (n.1076-30C>A)
| gnomAD v4 |
17 | g.80108459C>T | CA2640285838 | GAA | c.1076-30C>T (n.1076-30C>T)
| gnomAD v4 |
17 | g.80108460del | CA2565900131 | GAA | c.1076-29del (n.1076-29del)
| |
17 | g.80108461C>A | CA2640285841 | GAA | c.1076-28C>A (n.1076-28C>A)
| gnomAD v4 |
17 | g.80108461C= | CA2277812758 | GAA | c.1076-28C= (n.1076-28C=)
| |
17 | g.80108461C>T | CA628018370 | GAA | c.1076-28C>T (n.1076-28C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108462C>A | CA2506138876 | GAA | c.1076-27C>A (n.1076-27C>A)
| |
17 | g.80108462C= | CA2277812759 | GAA | c.1076-27C= (n.1076-27C=)
| |
17 | g.80108462C>T | CA8815156 | GAA | c.1076-27C>T (n.1076-27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108463C>G | CA2640285845 | GAA | c.1076-26C>G (n.1076-26C>G)
| gnomAD v4 |
17 | g.80108466A= | CA2277812760 | GAA | c.1076-23A= (n.1076-23A=)
| |
17 | g.80108466A>G | CA2277812761 | GAA | c.1076-23A>G (n.1076-23A>G)
| dbSNP |
17 | g.80108467T>C | CA2277812763 | GAA | c.1076-22T>C (n.1076-22T>C)
| dbSNP gnomAD v4 |
17 | g.80108467T>G | CA8815157 | GAA | c.1076-22T>G (n.1076-22T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108467T= | CA2277812762 | GAA | c.1076-22T= (n.1076-22T=)
| |
17 | g.80108470A= | CA2277812764 | GAA | c.1076-19A= (n.1076-19A=)
| |
17 | g.80108470A>G | CA2277812765 | GAA | c.1076-19A>G (n.1076-19A>G)
| dbSNP |
17 | g.80108472T>G | CA8815158 | GAA | c.1076-17T>G (n.1076-17T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108472T= | CA2277812766 | GAA | c.1076-17T= (n.1076-17T=)
| |
17 | g.80108473C= | CA2277812767 | GAA | c.1076-16C= (n.1076-16C=)
| |
17 | g.80108473C>T | CA294892032 | GAA | c.1076-16C>T (n.1076-16C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108474G>A | CA8815159 | GAA | c.1076-15G>A (n.1076-15G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108474G>C | CA8815160 | GAA | c.1076-15G>C (n.1076-15G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108474G= | CA2277812768 | GAA | c.1076-15G= (n.1076-15G=)
| |
17 | g.80108474G>T | CA2697555246 | GAA | c.1076-15G>T (n.1076-15G>T)
| ClinVar |
17 | g.80108475G>A | CA2573154953 | GAA | c.1076-14G>A (n.1076-14G>A)
| ClinVar dbSNP |
17 | g.80108476C= | CA2277812769 | GAA | c.1076-13C= (n.1076-13C=)
| |
17 | g.80108476C>T | CA8815161 | GAA | c.1076-13C>T (n.1076-13C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108476_80108477delinsCG | CA2277812770 | GAA | c.1076-13_1076-12delinsCG (n.1076-13_1076-12delinsCG)
| |
17 | g.80108477del | CA2277812771 | GAA | c.1076-12del (n.1076-12del)
| ClinVar dbSNP |
17 | g.80108477G>A | CA8815162 | GAA | c.1076-12G>A (n.1076-12G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108477G= | CA2277812772 | GAA | c.1076-12G= (n.1076-12G=)
| |
17 | g.80108477G>T | CA2576414017 | GAA | c.1076-12G>T (n.1076-12G>T)
| gnomAD v4 |
17 | g.80108478T>A | CA2640285869 | GAA | c.1076-11T>A (n.1076-11T>A)
| gnomAD v4 |
17 | g.80108478T>C | CA2580095317 | GAA | c.1076-11T>C (n.1076-11T>C)
| ClinVar |
17 | g.80108479T>A | CA2277812774 | GAA | c.1076-10T>A (n.1076-10T>A)
| ClinVar dbSNP |
17 | g.80108479T= | CA2277812773 | GAA | c.1076-10T= (n.1076-10T=)
| |
17 | g.80108481G>A | CA2739268467 | GAA | c.1076-8G>A (n.1076-8G>A)
| ClinVar |
17 | g.80108481G>C | CA2640285871 | GAA | c.1076-8G>C (n.1076-8G>C)
| gnomAD v4 |
17 | g.80108482C>T | CA2580095318 | GAA | c.1076-7C>T (n.1076-7C>T)
| ClinVar gnomAD v4 |
17 | g.80108484T>C | CA2640285876 | GAA | c.1076-5T>C (n.1076-5T>C)
| gnomAD v4 |
17 | g.80108485G>A | CA2640285877 | GAA | c.1076-4G>A (n.1076-4G>A)
| gnomAD v4 |
17 | g.80108485G= | CA2277812775 | GAA | c.1076-4G= (n.1076-4G=)
| |
17 | g.80108485G>T | CA2277812776 | GAA | c.1076-4G>T (n.1076-4G>T)
| ClinVar dbSNP |
17 | g.80108486C>A | CA2838197194 | GAA | c.1076-3C>A (n.1076-3C>A)
| |
17 | g.80108486C= | CA2277812777 | GAA | c.1076-3C= (n.1076-3C=)
| |
17 | g.80108486C>T | CA628018371 | GAA | c.1076-3C>T (n.1076-3C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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=)
| |