17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del
| ClinVar |
17 | g.80104574G>A | CA8814750 | GAA | c.-13G>A (n.-13G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104574G= | CA2277810516 | GAA | c.-13G= (n.-13G=)
| |
17 | g.80104574_80104600delinsGCCATCTCCAACCATGGGAGTGAGGCA | CA2277810517 | GAA | c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
| |
17 | g.80104575C>A | CA2640273863 | GAA | c.-12C>A (n.-12C>A)
| gnomAD v4 |
17 | g.80104575C= | CA2277810518 | GAA | c.-12C= (n.-12C=)
| |
17 | g.80104575C>T | CA628018634 | GAA | c.-12C>T (n.-12C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104577_80104602del | CA986720612 | GAA | c.-10_16del
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104576C>T | CA2810587125 | GAA | c.-11C>T (n.-11C>T)
| |
17 | g.80104577A= | CA2277810519 | GAA | c.-10A= (n.-10A=)
| |
17 | g.80104577A>C | CA8814751 | GAA | c.-10A>C (n.-10A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104577A>G | CA2640273871 | GAA | c.-10A>G (n.-10A>G)
| gnomAD v4 |
17 | g.80104578T>C | CA8814752 | GAA | c.-9T>C (n.-9T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104578T= | CA2277810520 | GAA | c.-9T= (n.-9T=)
| |
17 | g.80104581C>G | CA2520242847 | GAA | c.-6C>G (n.-6C>G)
| gnomAD v4 |
17 | g.80104581C>T | CA2640273876 | GAA | c.-6C>T (n.-6C>T)
| gnomAD v4 |
17 | g.80104584A= | CA2277810521 | GAA | c.-3A= (n.-3A=)
| |
17 | g.80104584A>G | CA8814754 | GAA | c.-3A>G (n.-3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104584A>T | CA8814753 | GAA | c.-3A>T (n.-3A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80104585C= | CA2277810522 | GAA | c.-2C= (n.-2C=)
| |
17 | g.80104585C>T | CA8814755 | GAA | c.-2C>T (n.-2C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104586_80104603del | CA2640273883 | GAA | c.-1_17del
| gnomAD v4 |
17 | g.80104587A= | CA2277810523 | GAA | c.1A= (p.Met1=)
| |
17 | g.80104587A>C | CA401359796 | GAA | c.1A>C (p.Met1Leu)
| |
17 | g.80104587A>G | CA273952 | GAA | c.1A>G (p.Met1Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104587A>T | CA401359799 | GAA | c.1A>T (p.Met1Leu)
| ClinVar dbSNP |
17 | g.80104588T>A | CA401359806 | GAA | c.2T>A (p.Met1Lys)
| |
17 | g.80104588T>C | CA401359804 | GAA | c.2T>C (p.Met1Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104588T>G | CA401359802 | GAA | c.2T>G (p.Met1Arg)
| |
17 | g.80104588T= | CA2277810524 | GAA | c.2T= (p.Met1=)
| |
17 | g.80104589G>A | CA401359809 | GAA | c.3G>A (p.Met1Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104589G>C | CA401359811 | GAA | c.3G>C (p.Met1Ile)
| |
17 | g.80104589G= | CA2277810525 | GAA | c.3G= (p.Met1=)
| |
17 | g.80104589G>T | CA401359814 | GAA | c.3G>T (p.Met1Ile)
| gnomAD v4 |
17 | g.80104589_80104590delinsTT | CA2573054598 | GAA | c.3_4delinsTT (p.Met1IlefsTer2)
| ClinVar dbSNP |
17 | g.80104590G>A | CA401359817 | GAA | c.4G>A (p.Gly2Arg)
| dbSNP |
17 | g.80104590G>C | CA401359819 | GAA | c.4G>C (p.Gly2Arg)
| |
17 | g.80104590G= | CA2277810526 | GAA | c.4G= (p.Gly2=)
| |
17 | g.80104590G>T | CA401359822 | GAA | c.4G>T (p.Gly2Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104591G>A | CA401359830 | GAA | c.5G>A (p.Gly2Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104591G>C | CA401359825 | GAA | c.5G>C (p.Gly2Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104591G= | CA2277810527 | GAA | c.5G= (p.Gly2=)
| |
17 | g.80104591G>T | CA401359827 | GAA | c.5G>T (p.Gly2Val)
| |
17 | g.80104592A>C | CA502176864 | GAA | c.6A>C (p.Gly2=)
| |
17 | g.80104592A>G | CA502176861 | GAA | c.6A>G (p.Gly2=)
| |
17 | g.80104592A>T | CA502176862 | GAA | c.6A>T (p.Gly2=)
| |
17 | g.80104593G>A | CA401359833 | GAA | c.7G>A (p.Val3Met)
| |
17 | g.80104593G>C | CA401359835 | GAA | c.7G>C (p.Val3Leu)
| |
17 | g.80104593G>T | CA401359837 | GAA | c.7G>T (p.Val3Leu)
| gnomAD v4 |
17 | g.80104594T>A | CA401359840 | GAA | c.8T>A (p.Val3Glu)
| |
17 | g.80104594T>C | CA294886445 | GAA | c.8T>C (p.Val3Ala)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104594T>G | CA401359844 | GAA | c.8T>G (p.Val3Gly)
| |
17 | g.80104594T= | CA2277810528 | GAA | c.8T= (p.Val3=)
| |
17 | g.80104595G>A | CA502176871 | GAA | c.9G>A (p.Val3=)
| |
17 | g.80104595G>C | CA502176872 | GAA | c.9G>C (p.Val3=)
| |
17 | g.80104595G>T | CA502176874 | GAA | c.9G>T (p.Val3=)
| |
17 | g.80104596A= | CA2277810529 | GAA | c.10A= (p.Arg4=)
| |
17 | g.80104596A>C | CA502176875 | GAA | c.10A>C (p.Arg4=)
| |
17 | g.80104596A>G | CA401359846 | GAA | c.10A>G (p.Arg4Gly)
| dbSNP |
17 | g.80104596A>T | CA401359848 | GAA | c.10A>T (p.Arg4Trp)
| |
17 | g.80104597G>A | CA198768 | GAA | c.11G>A (p.Arg4Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104597G>C | CA401359851 | GAA | c.11G>C (p.Arg4Thr)
| |
17 | g.80104597G= | CA2277810530 | GAA | c.11G= (p.Arg4=)
| |
17 | g.80104597G>T | CA401359853 | GAA | c.11G>T (p.Arg4Met)
| |
17 | g.80104598G>A | CA502176881 | GAA | c.12G>A (p.Arg4=)
| |
17 | g.80104598G>C | CA401359854 | GAA | c.12G>C (p.Arg4Ser)
| |
17 | g.80104598G= | CA2277810531 | GAA | c.12G= (p.Arg4=)
| |
17 | g.80104598G>T | CA401359856 | GAA | c.12G>T (p.Arg4Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104599C>A | CA401359859 | GAA | c.13C>A (p.His5Asn)
| |
17 | g.80104599C>G | CA401359863 | GAA | c.13C>G (p.His5Asp)
| |
17 | g.80104599C>T | CA401359861 | GAA | c.13C>T (p.His5Tyr)
| |
17 | g.80104600A= | CA2277810532 | GAA | c.14A= (p.His5=)
| |
17 | g.80104600A>C | CA401359866 | GAA | c.14A>C (p.His5Pro)
| dbSNP |
17 | g.80104600A>G | CA401359868 | GAA | c.14A>G (p.His5Arg)
| |
17 | g.80104600A>T | CA401359871 | GAA | c.14A>T (p.His5Leu)
| |
17 | g.80104601C>A | CA401359874 | GAA | c.15C>A (p.His5Gln)
| |
17 | g.80104601C>G | CA401359876 | GAA | c.15C>G (p.His5Gln)
| |
17 | g.80104601C>T | CA502176888 | GAA | c.15C>T (p.His5=)
| gnomAD v4 |
17 | g.80104602C>A | CA401359879 | GAA | c.16C>A (p.Pro6Thr)
| |
17 | g.80104602C= | CA2277810533 | GAA | c.16C= (p.Pro6=)
| |
17 | g.80104602C>G | CA401359881 | GAA | c.16C>G (p.Pro6Ala)
| dbSNP |
17 | g.80104602C>T | CA401359883 | GAA | c.16C>T (p.Pro6Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104603C>A | CA401359886 | GAA | c.17C>A (p.Pro6Gln)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104603C= | CA2277810534 | GAA | c.17C= (p.Pro6=)
| |
17 | g.80104603C>G | CA401359889 | GAA | c.17C>G (p.Pro6Arg)
| |
17 | g.80104603C>T | CA8814756 | GAA | c.17C>T (p.Pro6Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104604G>A | CA8814757 | GAA | c.18G>A (p.Pro6=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104604G>C | CA502176895 | GAA | c.18G>C (p.Pro6=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104604G= | CA2277810535 | GAA | c.18G= (p.Pro6=)
| |
17 | g.80104604G>T | CA502176897 | GAA | c.18G>T (p.Pro6=)
| |
17 | g.80104604_80104611del | CA658795221 | GAA | c.18_25del (p.Cys8ProfsTer24)
| |
17 | g.80104605C>A | CA401359899 | GAA | c.19C>A (p.Pro7Thr)
| dbSNP |
17 | g.80104605C= | CA2277810536 | GAA | c.19C= (p.Pro7=)
| |
17 | g.80104605C>G | CA401359895 | GAA | c.19C>G (p.Pro7Ala)
| |
17 | g.80104605C>T | CA401359897 | GAA | c.19C>T (p.Pro7Ser)
| |
17 | g.80104606C>A | CA401359902 | GAA | c.20C>A (p.Pro7His)
| |
17 | g.80104606C= | CA2277810537 | GAA | c.20C= (p.Pro7=)
| |
17 | g.80104606C>G | CA401359904 | GAA | c.20C>G (p.Pro7Arg)
| |
17 | g.80104606C>T | CA401359906 | GAA | c.20C>T (p.Pro7Leu)
| dbSNP |
17 | g.80104607C>A | CA502176904 | GAA | c.21C>A (p.Pro7=)
| |
17 | g.80104607C>G | CA502176906 | GAA | c.21C>G (p.Pro7=)
| |
17 | g.80104607C>T | CA502176908 | GAA | c.21C>T (p.Pro7=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104608T>A | CA401359909 | GAA | c.22T>A (p.Cys8Ser)
| |
17 | g.80104608T>C | CA401359912 | GAA | c.22T>C (p.Cys8Arg)
| |
17 | g.80104608T>G | CA401359914 | GAA | c.22T>G (p.Cys8Gly)
| |
17 | g.80104609G>A | CA8814758 | GAA | c.23G>A (p.Cys8Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104609G>C | CA401359917 | GAA | c.23G>C (p.Cys8Ser)
| |
17 | g.80104609G= | CA2277810538 | GAA | c.23G= (p.Cys8=)
| |
17 | g.80104609G>T | CA401359919 | GAA | c.23G>T (p.Cys8Phe)
| gnomAD v4 |
17 | g.80104610C>A | CA401359921 | GAA | c.24C>A (p.Cys8Ter)
| |
17 | g.80104610C>G | CA401359924 | GAA | c.24C>G (p.Cys8Trp)
| |
17 | g.80104610C>T | CA502176915 | GAA | c.24C>T (p.Cys8=)
| ClinVar |
17 | g.80104611del | CA658795222 | GAA | c.25del (p.Ser9ProfsTer?)
| |
17 | g.80104611T>A | CA401359930 | GAA | c.25T>A (p.Ser9Thr)
| |
17 | g.80104611T>C | CA10604542 | GAA | c.25T>C (p.Ser9Pro)
| ClinVar dbSNP |
17 | g.80104611T>G | CA401359927 | GAA | c.25T>G (p.Ser9Ala)
| |
17 | g.80104611T= | CA2277810539 | GAA | c.25T= (p.Ser9=)
| |
17 | g.80104612C>A | CA401359933 | GAA | c.26C>A (p.Ser9Tyr)
| gnomAD v4 |
17 | g.80104612C= | CA2277810540 | GAA | c.26C= (p.Ser9=)
| |
17 | g.80104612C>G | CA401359938 | GAA | c.26C>G (p.Ser9Cys)
| ClinVar dbSNP |
17 | g.80104612C>T | CA401359935 | GAA | c.26C>T (p.Ser9Phe)
| ClinVar dbSNP |
17 | g.80104613C>A | CA502176921 | GAA | c.27C>A (p.Ser9=)
| |
17 | g.80104613C= | CA2277810541 | GAA | c.27C= (p.Ser9=)
| |
17 | g.80104613C>G | CA502176925 | GAA | c.27C>G (p.Ser9=)
| |
17 | g.80104613C>T | CA502176923 | GAA | c.27C>T (p.Ser9=)
| dbSNP |
17 | g.80104614C>A | CA401359940 | GAA | c.28C>A (p.His10Asn)
| |
17 | g.80104614C= | CA2277810542 | GAA | c.28C= (p.His10=)
| |
17 | g.80104614C>G | CA401359942 | GAA | c.28C>G (p.His10Asp)
| |
17 | g.80104614C>T | CA401359943 | GAA | c.28C>T (p.His10Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104615del | CA2573054599 | GAA | c.29del (p.His10ProfsTer?)
| dbSNP |
17 | g.80104615A>C | CA401359946 | GAA | c.29A>C (p.His10Pro)
| |
17 | g.80104615A>G | CA401359948 | GAA | c.29A>G (p.His10Arg)
| dbSNP gnomAD v4 |
17 | g.80104615A>T | CA401359950 | GAA | c.29A>T (p.His10Leu)
| ClinVar gnomAD v4 |
17 | g.80104616C>A | CA401359953 | GAA | c.30C>A (p.His10Gln)
| |
17 | g.80104616C= | CA2277810543 | GAA | c.30C= (p.His10=)
| |
17 | g.80104616C>G | CA401359954 | GAA | c.30C>G (p.His10Gln)
| dbSNP |
17 | g.80104616C>T | CA502176932 | GAA | c.30C>T (p.His10=)
| ClinVar gnomAD v4 |
17 | g.80104617C>A | CA502176934 | GAA | c.31C>A (p.Arg11=)
| |
17 | g.80104617C= | CA2277810544 | GAA | c.31C= (p.Arg11=)
| |
17 | g.80104617C>G | CA401359956 | GAA | c.31C>G (p.Arg11Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104617C>T | CA8814759 | GAA | c.31C>T (p.Arg11Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104618G>A | CA8814760 | GAA | c.32G>A (p.Arg11Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104618G>C | CA401359961 | GAA | c.32G>C (p.Arg11Pro)
| |
17 | g.80104618G= | CA2277810545 | GAA | c.32G= (p.Arg11=)
| |
17 | g.80104618G>T | CA8814761 | GAA | c.32G>T (p.Arg11Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104619_80104633del | CA2518182731 | GAA | c.33_47del (p.Leu12_Cys16del)
| |
17 | g.80104619G>A | CA502176940 | GAA | c.33G>A (p.Arg11=)
| gnomAD v4 |
17 | g.80104619G>C | CA502176941 | GAA | c.33G>C (p.Arg11=)
| |
17 | g.80104619G>T | CA502176943 | GAA | c.33G>T (p.Arg11=)
| |
17 | g.80104620C>A | CA401359965 | GAA | c.34C>A (p.Leu12Ile)
| |
17 | g.80104620C= | CA2277810546 | GAA | c.34C= (p.Leu12=)
| |
17 | g.80104620C>G | CA401359968 | GAA | c.34C>G (p.Leu12Val)
| |
17 | g.80104620C>T | CA8814763 | GAA | c.34C>T (p.Leu12Phe)
| dbSNP ExAC gnomAD v2 |
17 | g.80104620_80104624delinsCTCCT | CA2277810547 | GAA | c.34_38delinsCTCCT (p.Leu12=)
| |
17 | g.80104621T>A | CA401359971 | GAA | c.35T>A (p.Leu12His)
| |
17 | g.80104621T>C | CA8814764 | GAA | c.35T>C (p.Leu12Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104621T>G | CA401359974 | GAA | c.35T>G (p.Leu12Arg)
| |
17 | g.80104621T= | CA2277810548 | GAA | c.35T= (p.Leu12=)
| |
17 | g.80104621_80104624del | CA8814762 | GAA | c.35_38del (p.Leu12ArgfsTer30)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104622C>A | CA502176953 | GAA | c.36C>A (p.Leu12=)
| |
17 | g.80104622C= | CA2277810549 | GAA | c.36C= (p.Leu12=)
| |
17 | g.80104622C>G | CA502176956 | GAA | c.36C>G (p.Leu12=)
| |
17 | g.80104622C>T | CA8814765 | GAA | c.36C>T (p.Leu12=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104623C>A | CA401359979 | GAA | c.37C>A (p.Leu13Met)
| |
17 | g.80104623C= | CA2277810550 | GAA | c.37C= (p.Leu13=)
| |
17 | g.80104623C>G | CA401359981 | GAA | c.37C>G (p.Leu13Val)
| |
17 | g.80104623C>T | CA502176958 | GAA | c.37C>T (p.Leu13=)
| dbSNP |
17 | g.80104626_80104633del | CA913184761 | GAA | c.40_47del (p.Ala14ArgfsTer18)
| ClinVar |
17 | g.80104624T>A | CA401359984 | GAA | c.38T>A (p.Leu13Gln)
| |
17 | g.80104624T>C | CA401359987 | GAA | c.38T>C (p.Leu13Pro)
| |
17 | g.80104624T>G | CA401359989 | GAA | c.38T>G (p.Leu13Arg)
| |
17 | g.80104625G>A | CA502176962 | GAA | c.39G>A (p.Leu13=)
| |
17 | g.80104625G>C | CA502176964 | GAA | c.39G>C (p.Leu13=)
| |
17 | g.80104625G>T | CA502176965 | GAA | c.39G>T (p.Leu13=)
| |
17 | g.80104625_80104630delinsGGCCGT | CA2277810551 | GAA | c.39_44delinsGGCCGT (p.Leu13=)
| |
17 | g.80104626G>A | CA401359995 | GAA | c.40G>A (p.Ala14Thr)
| gnomAD v4 |
17 | g.80104626G>C | CA401359994 | GAA | c.40G>C (p.Ala14Pro)
| |
17 | g.80104626G>T | CA401359996 | GAA | c.40G>T (p.Ala14Ser)
| |
17 | g.80104626_80104630del | CA8814766 | GAA | c.40_44del (p.Ala14LeufsTer19)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104627C>A | CA401359999 | GAA | c.41C>A (p.Ala14Asp)
| |
17 | g.80104627C= | CA2277810552 | GAA | c.41C= (p.Ala14=)
| |
17 | g.80104627C>G | CA401360001 | GAA | c.41C>G (p.Ala14Gly)
| |
17 | g.80104627C>T | CA401360004 | GAA | c.41C>T (p.Ala14Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104628C>A | CA502176972 | GAA | c.42C>A (p.Ala14=)
| |
17 | g.80104628C= | CA2277810553 | GAA | c.42C= (p.Ala14=)
| |
17 | g.80104628C>G | CA8814767 | GAA | c.42C>G (p.Ala14=)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.80104628C>T | CA294886481 | GAA | c.42C>T (p.Ala14=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104629G>A | CA8814768 | GAA | c.43G>A (p.Val15Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104629G>C | CA401360010 | GAA | c.43G>C (p.Val15Leu)
| |
17 | g.80104629G= | CA2277810554 | GAA | c.43G= (p.Val15=)
| |
17 | g.80104629G>T | CA401360013 | GAA | c.43G>T (p.Val15Phe)
| gnomAD v4 |
17 | g.80104630T>A | CA401360017 | GAA | c.44T>A (p.Val15Asp)
| |
17 | g.80104630T>C | CA401360018 | GAA | c.44T>C (p.Val15Ala)
| |
17 | g.80104630T>G | CA401360021 | GAA | c.44T>G (p.Val15Gly)
| |
17 | g.80104630dup | CA8814769 | GAA | c.44dup (p.Cys16LeufsTer19)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104631C>A | CA502176981 | GAA | c.45C>A (p.Val15=)
| |
17 | g.80104631C>G | CA502176982 | GAA | c.45C>G (p.Val15=)
| |
17 | g.80104631C>T | CA502176984 | GAA | c.45C>T (p.Val15=)
| |
17 | g.80104632T>A | CA401360028 | GAA | c.46T>A (p.Cys16Ser)
| |
17 | g.80104632T>C | CA401360026 | GAA | c.46T>C (p.Cys16Arg)
| |
17 | g.80104632T>G | CA401360023 | GAA | c.46T>G (p.Cys16Gly)
| |
17 | g.80104633G>A | CA401360031 | GAA | c.47G>A (p.Cys16Tyr)
| |
17 | g.80104633G>C | CA8814770 | GAA | c.47G>C (p.Cys16Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104633G= | CA2277810555 | GAA | c.47G= (p.Cys16=)
| |
17 | g.80104633G>T | CA401360035 | GAA | c.47G>T (p.Cys16Phe)
| |
17 | g.80104634C>A | CA401360038 | GAA | c.48C>A (p.Cys16Ter)
| gnomAD v4 |
17 | g.80104634C= | CA2277810556 | GAA | c.48C= (p.Cys16=)
| |
17 | g.80104634C>G | CA401360040 | GAA | c.48C>G (p.Cys16Trp)
| gnomAD v4 |
17 | g.80104634C>T | CA8814771 | GAA | c.48C>T (p.Cys16=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80104635G>A | CA8814772 | GAA | c.49G>A (p.Ala17Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104635G>C | CA401360046 | GAA | c.49G>C (p.Ala17Pro)
| dbSNP |
17 | g.80104635G= | CA2277810557 | GAA | c.49G= (p.Ala17=)
| |
17 | g.80104635G>T | CA401360048 | GAA | c.49G>T (p.Ala17Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104636C>A | CA401360051 | GAA | c.50C>A (p.Ala17Asp)
| |
17 | g.80104636C= | CA2277810558 | GAA | c.50C= (p.Ala17=)
| |
17 | g.80104636C>G | CA401360053 | GAA | c.50C>G (p.Ala17Gly)
| |
17 | g.80104636C>T | CA8814773 | GAA | c.50C>T (p.Ala17Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104637C>A | CA502176996 | GAA | c.51C>A (p.Ala17=)
| |
17 | g.80104637C>G | CA502176998 | GAA | c.51C>G (p.Ala17=)
| |
17 | g.80104637C>T | CA502177000 | GAA | c.51C>T (p.Ala17=)
| |
17 | g.80104638_80104640del | CA2640274157 | GAA | c.52_54del (p.Leu18del)
| gnomAD v4 |
17 | g.80104638C>A | CA401360062 | GAA | c.52C>A (p.Leu18Ile)
| |
17 | g.80104638C= | CA2277810559 | GAA | c.52C= (p.Leu18=)
| |
17 | g.80104638C>G | CA401360059 | GAA | c.52C>G (p.Leu18Val)
| |
17 | g.80104638C>T | CA401360057 | GAA | c.52C>T (p.Leu18Phe)
| ClinVar dbSNP |
17 | g.80104639T>A | CA401360064 | GAA | c.53T>A (p.Leu18His)
| |
17 | g.80104639T>C | CA401360068 | GAA | c.53T>C (p.Leu18Pro)
| |
17 | g.80104639T>G | CA401360065 | GAA | c.53T>G (p.Leu18Arg)
| |
17 | g.80104640C>A | CA502177006 | GAA | c.54C>A (p.Leu18=)
| |
17 | g.80104640C= | CA2277810560 | GAA | c.54C= (p.Leu18=)
| |
17 | g.80104640C>G | CA502177008 | GAA | c.54C>G (p.Leu18=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104640C>T | CA10647040 | GAA | c.54C>T (p.Leu18=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104640_80104641del | CA913014071 | GAA | c.54_55del (p.Ser20LeufsTer14)
| |
17 | g.80104640_80104641delinsCG | CA2277810561 | GAA | c.54_55delinsCG (p.Leu18=)
| |
17 | g.80104641del | CA658824772 | GAA | c.55del (p.Val19CysfsTer24)
| ClinVar dbSNP |
17 | g.80104641G>A | CA8814774 | GAA | c.55G>A (p.Val19Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104641G>C | CA401360073 | GAA | c.55G>C (p.Val19Leu)
| |
17 | g.80104641G= | CA2277810562 | GAA | c.55G= (p.Val19=)
| |
17 | g.80104641G>T | CA401360075 | GAA | c.55G>T (p.Val19Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104642T>A | CA401360077 | GAA | c.56T>A (p.Val19Glu)
| |
17 | g.80104642T>C | CA401360079 | GAA | c.56T>C (p.Val19Ala)
| gnomAD v4 |
17 | g.80104642T>G | CA401360081 | GAA | c.56T>G (p.Val19Gly)
| |
17 | g.80104643G>A | CA502177014 | GAA | c.57G>A (p.Val19=)
| |
17 | g.80104643G>C | CA502177016 | GAA | c.57G>C (p.Val19=)
| |
17 | g.80104643G>T | CA502177020 | GAA | c.57G>T (p.Val19=)
| |
17 | g.80104644T>A | CA401360089 | GAA | c.58T>A (p.Ser20Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104644T>C | CA401360084 | GAA | c.58T>C (p.Ser20Pro)
| |
17 | g.80104644T>G | CA401360086 | GAA | c.58T>G (p.Ser20Ala)
| |
17 | g.80104644T= | CA2277810563 | GAA | c.58T= (p.Ser20=)
| |
17 | g.80104645C>A | CA401360091 | GAA | c.59C>A (p.Ser20Tyr)
| |
17 | g.80104645C= | CA2277810564 | GAA | c.59C= (p.Ser20=)
| |
17 | g.80104645C>G | CA16607527 | GAA | c.59C>G (p.Ser20Cys)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104645C>T | CA8814775 | GAA | c.59C>T (p.Ser20Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104646C>A | CA502177027 | GAA | c.60C>A (p.Ser20=)
| |
17 | g.80104646C= | CA2277810565 | GAA | c.60C= (p.Ser20=)
| |
17 | g.80104646C>G | CA502177028 | GAA | c.60C>G (p.Ser20=)
| dbSNP gnomAD v4 |
17 | g.80104646C>T | CA502177029 | GAA | c.60C>T (p.Ser20=)
| |
17 | g.80104647T>A | CA401360095 | GAA | c.61T>A (p.Leu21Met)
| |
17 | g.80104647T>C | CA502177030 | GAA | c.61T>C (p.Leu21=)
| |
17 | g.80104647T>G | CA401360097 | GAA | c.61T>G (p.Leu21Val)
| |
17 | g.80104648T>A | CA401360100 | GAA | c.62T>A (p.Leu21Ter)
| |
17 | g.80104648T>C | CA401360104 | GAA | c.62T>C (p.Leu21Ser)
| |
17 | g.80104648T>G | CA401360102 | GAA | c.62T>G (p.Leu21Trp)
| |
17 | g.80104649G>A | CA502177034 | GAA | c.63G>A (p.Leu21=)
| |
17 | g.80104649G>C | CA401360106 | GAA | c.63G>C (p.Leu21Phe)
| |
17 | g.80104649G>T | CA401360108 | GAA | c.63G>T (p.Leu21Phe)
| gnomAD v4 |
17 | g.80104650G>A | CA401360111 | GAA | c.64G>A (p.Ala22Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104650G>C | CA401360113 | GAA | c.64G>C (p.Ala22Pro)
| |
17 | g.80104650G= | CA2277810566 | GAA | c.64G= (p.Ala22=)
| |
17 | g.80104650G>T | CA401360116 | GAA | c.64G>T (p.Ala22Ser)
| |
17 | g.80104651C>A | CA401360119 | GAA | c.65C>A (p.Ala22Glu)
| gnomAD v4 |
17 | g.80104651C= | CA2277810567 | GAA | c.65C= (p.Ala22=)
| |
17 | g.80104651C>G | CA401360121 | GAA | c.65C>G (p.Ala22Gly)
| |
17 | g.80104651C>T | CA8814776 | GAA | c.65C>T (p.Ala22Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104652A>C | CA502177040 | GAA | c.66A>C (p.Ala22=)
| gnomAD v4 |
17 | g.80104652A>G | CA502177041 | GAA | c.66A>G (p.Ala22=)
| |
17 | g.80104652A>T | CA502177043 | GAA | c.66A>T (p.Ala22=)
| gnomAD v4 |
17 | g.80104653A= | CA2277810568 | GAA | c.67A= (p.Thr23=)
| |
17 | g.80104653A>C | CA401360126 | GAA | c.67A>C (p.Thr23Pro)
| gnomAD v4 |
17 | g.80104653A>G | CA8814777 | GAA | c.67A>G (p.Thr23Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104653A>T | CA401360129 | GAA | c.67A>T (p.Thr23Ser)
| |
17 | g.80104654C>A | CA401360132 | GAA | c.68C>A (p.Thr23Asn)
| |
17 | g.80104654C= | CA2277810569 | GAA | c.68C= (p.Thr23=)
| |
17 | g.80104654C>G | CA401360136 | GAA | c.68C>G (p.Thr23Ser)
| |
17 | g.80104654C>T | CA401360134 | GAA | c.68C>T (p.Thr23Ile)
| ClinVar dbSNP |
17 | g.80104655C>A | CA8814778 | GAA | c.69C>A (p.Thr23=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104655C= | CA2277810570 | GAA | c.69C= (p.Thr23=)
| |
17 | g.80104655C>G | CA502177050 | GAA | c.69C>G (p.Thr23=)
| gnomAD v4 |
17 | g.80104655C>T | CA8814779 | GAA | c.69C>T (p.Thr23=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104656G>A | CA8814780 | GAA | c.70G>A (p.Ala24Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104656G>C | CA401360144 | GAA | c.70G>C (p.Ala24Pro)
| |
17 | g.80104656G= | CA2277810571 | GAA | c.70G= (p.Ala24=)
| |
17 | g.80104656G>T | CA401360146 | GAA | c.70G>T (p.Ala24Ser)
| |
17 | g.80104657C>A | CA401360149 | GAA | c.71C>A (p.Ala24Asp)
| |
17 | g.80104657C= | CA2277810572 | GAA | c.71C= (p.Ala24=)
| |
17 | g.80104657C>G | CA401360152 | GAA | c.71C>G (p.Ala24Gly)
| |
17 | g.80104657C>T | CA294886529 | GAA | c.71C>T (p.Ala24Val)
| dbSNP |
17 | g.80104658T>A | CA502177056 | GAA | c.72T>A (p.Ala24=)
| |
17 | g.80104658T>C | CA8814781 | GAA | c.72T>C (p.Ala24=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104658T>G | CA502177059 | GAA | c.72T>G (p.Ala24=)
| |
17 | g.80104658T= | CA2277810573 | GAA | c.72T= (p.Ala24=)
| |
17 | g.80104659G>A | CA401360158 | GAA | c.73G>A (p.Ala25Thr)
| gnomAD v4 |
17 | g.80104659G>C | CA401360161 | GAA | c.73G>C (p.Ala25Pro)
| |
17 | g.80104659G>T | CA401360163 | GAA | c.73G>T (p.Ala25Ser)
| gnomAD v4 |
17 | g.80104663_80104673del | CA2640274215 | GAA | c.77_87del (p.Leu26HisfsTer5)
| gnomAD v4 |
17 | g.80104660C>A | CA401360170 | GAA | c.74C>A (p.Ala25Glu)
| |
17 | g.80104660C= | CA2277810574 | GAA | c.74C= (p.Ala25=)
| |
17 | g.80104660C>G | CA401360166 | GAA | c.74C>G (p.Ala25Gly)
| |
17 | g.80104660C>T | CA8814782 | GAA | c.74C>T (p.Ala25Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104661A= | CA2277810575 | GAA | c.75A= (p.Ala25=)
| |
17 | g.80104661A>C | CA502177064 | GAA | c.75A>C (p.Ala25=)
| ClinVar dbSNP |
17 | g.80104661A>G | CA502177066 | GAA | c.75A>G (p.Ala25=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104661A>T | CA502177068 | GAA | c.75A>T (p.Ala25=)
| ClinVar |
17 | g.80104662C>A | CA401360172 | GAA | c.76C>A (p.Leu26Ile)
| |
17 | g.80104662C= | CA2277810576 | GAA | c.76C= (p.Leu26=)
| |
17 | g.80104662C>G | CA401360174 | GAA | c.76C>G (p.Leu26Val)
| |
17 | g.80104662C>T | CA8814783 | GAA | c.76C>T (p.Leu26Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104663T>A | CA401360178 | GAA | c.77T>A (p.Leu26His)
| |
17 | g.80104663T>C | CA401360180 | GAA | c.77T>C (p.Leu26Pro)
| |
17 | g.80104663T>G | CA401360183 | GAA | c.77T>G (p.Leu26Arg)
| ClinVar dbSNP |
17 | g.80104663T= | CA2277810577 | GAA | c.77T= (p.Leu26=)
| |
17 | g.80104664C>A | CA502177073 | GAA | c.78C>A (p.Leu26=)
| |
17 | g.80104664C>G | CA502177074 | GAA | c.78C>G (p.Leu26=)
| |
17 | g.80104664C>T | CA502177072 | GAA | c.78C>T (p.Leu26=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104665C>A | CA401360186 | GAA | c.79C>A (p.Leu27Met)
| |
17 | g.80104665C= | CA2277810578 | GAA | c.79C= (p.Leu27=)
| |
17 | g.80104665C>G | CA8814784 | GAA | c.79C>G (p.Leu27Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104665C>T | CA502177075 | GAA | c.79C>T (p.Leu27=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104666T>A | CA401360189 | GAA | c.80T>A (p.Leu27Gln)
| |
17 | g.80104666T>C | CA401360190 | GAA | c.80T>C (p.Leu27Pro)
| |
17 | g.80104666T>G | CA401360192 | GAA | c.80T>G (p.Leu27Arg)
| |
17 | g.80104667G>A | CA502177076 | GAA | c.81G>A (p.Leu27=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104667G>C | CA502177077 | GAA | c.81G>C (p.Leu27=)
| |
17 | g.80104667G= | CA2277810579 | GAA | c.81G= (p.Leu27=)
| |
17 | g.80104667G>T | CA502177078 | GAA | c.81G>T (p.Leu27=)
| gnomAD v4 |
17 | g.80104670dup | CA2695200345 | GAA | c.84dup (p.His29AlafsTer6)
| ClinVar |
17 | g.80104668G>A | CA294886548 | GAA | c.82G>A (p.Gly28Arg)
| dbSNP |
17 | g.80104668G>C | CA401360197 | GAA | c.82G>C (p.Gly28Arg)
| |
17 | g.80104668G= | CA2277810580 | GAA | c.82G= (p.Gly28=)
| |
17 | g.80104668G>T | CA401360195 | GAA | c.82G>T (p.Gly28Trp)
| |
17 | g.80104669G>A | CA401360200 | GAA | c.83G>A (p.Gly28Glu)
| dbSNP gnomAD v4 |
17 | g.80104669G>C | CA401360202 | GAA | c.83G>C (p.Gly28Ala)
| |
17 | g.80104669G= | CA2277810581 | GAA | c.83G= (p.Gly28=)
| |
17 | g.80104669G>T | CA10604460 | GAA | c.83G>T (p.Gly28Val)
| ClinVar dbSNP |
17 | g.80104670G>A | CA8814785 | GAA | c.84G>A (p.Gly28=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104670G>C | CA502177080 | GAA | c.84G>C (p.Gly28=)
| ClinVar |
17 | g.80104670G= | CA2277810582 | GAA | c.84G= (p.Gly28=)
| |
17 | g.80104670G>T | CA502177079 | GAA | c.84G>T (p.Gly28=)
| |
17 | g.80104671C>A | CA401360209 | GAA | c.85C>A (p.His29Asn)
| |
17 | g.80104671C= | CA2277810583 | GAA | c.85C= (p.His29=)
| |
17 | g.80104671C>G | CA401360211 | GAA | c.85C>G (p.His29Asp)
| |
17 | g.80104671C>T | CA294886572 | GAA | c.85C>T (p.His29Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104672A>C | CA401360220 | GAA | c.86A>C (p.His29Pro)
| |
17 | g.80104672A>G | CA401360215 | GAA | c.86A>G (p.His29Arg)
| |
17 | g.80104672A>T | CA401360217 | GAA | c.86A>T (p.His29Leu)
| |