Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.63488631_63488648delCA985411584ACEc.2306-17_2306del
c.584-17_584del
c.*376-17_*376del
c.548_565del (n.548_565del)
c.*18_*35del (n.*18_*35del)
c.*226-17_*226del
c.74-17_74del
n.252-17_252del
c.1757-17_1757del
c.644-17_644del
c.1739-17_1739del
c.1454-17_1454del
c.236-17_236del
n.667_684del
gnomAD v3 gnomAD v4
17g.63488635_63488640delinsAAACCCCA2269945914ACEc.2306-13_2306-8delinsAAACCC (n.2306-13_2306-8delinsAAACCC)
c.584-13_584-8delinsAAACCC (n.584-13_584-8delinsAAACCC)
c.*376-13_*376-8delinsAAACCC (n.*376-13_*376-8delinsAAACCC)
c.552_557delinsAAACCC (n.552_557delinsAAACCC)
c.*22_*27delinsAAACCC (n.*22_*27delinsAAACCC)
c.*226-13_*226-8delinsAAACCC (n.*226-13_*226-8delinsAAACCC)
c.74-13_74-8delinsAAACCC (n.74-13_74-8delinsAAACCC)
n.252-13_252-8delinsAAACCC
c.1757-13_1757-8delinsAAACCC (n.1757-13_1757-8delinsAAACCC)
c.644-13_644-8delinsAAACCC (n.644-13_644-8delinsAAACCC)
c.1739-13_1739-8delinsAAACCC (n.1739-13_1739-8delinsAAACCC)
c.1454-13_1454-8delinsAAACCC (n.1454-13_1454-8delinsAAACCC)
c.236-13_236-8delinsAAACCC (n.236-13_236-8delinsAAACCC)
n.671_676delinsAAACCC
17g.63488635_63488642delinsAAACCCCTCA2269945915ACEc.2306-13_2306-6delinsAAACCCCT (n.2306-13_2306-6delinsAAACCCCT)
c.584-13_584-6delinsAAACCCCT (n.584-13_584-6delinsAAACCCCT)
c.*376-13_*376-6delinsAAACCCCT (n.*376-13_*376-6delinsAAACCCCT)
c.552_559delinsAAACCCCT (n.552_559delinsAAACCCCT)
c.*22_*29delinsAAACCCCT (n.*22_*29delinsAAACCCCT)
c.*226-13_*226-6delinsAAACCCCT (n.*226-13_*226-6delinsAAACCCCT)
c.74-13_74-6delinsAAACCCCT (n.74-13_74-6delinsAAACCCCT)
n.252-13_252-6delinsAAACCCCT
c.1757-13_1757-6delinsAAACCCCT (n.1757-13_1757-6delinsAAACCCCT)
c.644-13_644-6delinsAAACCCCT (n.644-13_644-6delinsAAACCCCT)
c.1739-13_1739-6delinsAAACCCCT (n.1739-13_1739-6delinsAAACCCCT)
c.1454-13_1454-6delinsAAACCCCT (n.1454-13_1454-6delinsAAACCCCT)
c.236-13_236-6delinsAAACCCCT (n.236-13_236-6delinsAAACCCCT)
n.671_678delinsAAACCCCT
17g.63488636A>GCA2639263696ACEc.2306-12A>G (n.2306-12A>G)
c.584-12A>G (n.584-12A>G)
c.*376-12A>G (n.*376-12A>G)
c.553A>G (n.553A>G)
c.*23A>G (n.*23A>G)
c.*226-12A>G (n.*226-12A>G)
c.74-12A>G (n.74-12A>G)
n.252-12A>G
c.1757-12A>G (n.1757-12A>G)
c.644-12A>G (n.644-12A>G)
c.1739-12A>G (n.1739-12A>G)
c.1454-12A>G (n.1454-12A>G)
c.236-12A>G (n.236-12A>G)
n.672A>G
gnomAD v4
17g.63488636_63488640delCA919875852ACEc.2306-12_2306-8del (n.2306-12_2306-8del)
c.584-12_584-8del (n.584-12_584-8del)
c.*376-12_*376-8del (n.*376-12_*376-8del)
c.553_557del (n.553_557del)
c.*23_*27del (n.*23_*27del)
c.*226-12_*226-8del (n.*226-12_*226-8del)
c.74-12_74-8del (n.74-12_74-8del)
n.252-12_252-8del
c.1757-12_1757-8del (n.1757-12_1757-8del)
c.644-12_644-8del (n.644-12_644-8del)
c.1739-12_1739-8del (n.1739-12_1739-8del)
c.1454-12_1454-8del (n.1454-12_1454-8del)
c.236-12_236-8del (n.236-12_236-8del)
n.672_676del
dbSNP gnomAD v4
17g.63488637_63488643delCA2269945916ACEc.2306-11_2306-5del (n.2306-11_2306-5del)
c.584-11_584-5del (n.584-11_584-5del)
c.*376-11_*376-5del (n.*376-11_*376-5del)
c.554_560del (n.554_560del)
c.*24_*30del (n.*24_*30del)
c.*226-11_*226-5del (n.*226-11_*226-5del)
c.74-11_74-5del (n.74-11_74-5del)
n.252-11_252-5del
c.1757-11_1757-5del (n.1757-11_1757-5del)
c.644-11_644-5del (n.644-11_644-5del)
c.1739-11_1739-5del (n.1739-11_1739-5del)
c.1454-11_1454-5del (n.1454-11_1454-5del)
c.236-11_236-5del (n.236-11_236-5del)
n.673_679del
dbSNP
17g.63488637A=CA2269945917ACEc.2306-11A= (n.2306-11A=)
c.584-11A= (n.584-11A=)
c.*376-11A= (n.*376-11A=)
c.554A= (n.554A=)
c.*24A= (n.*24A=)
c.*226-11A= (n.*226-11A=)
c.74-11A= (n.74-11A=)
n.252-11A=
c.1757-11A= (n.1757-11A=)
c.644-11A= (n.644-11A=)
c.1739-11A= (n.1739-11A=)
c.1454-11A= (n.1454-11A=)
c.236-11A= (n.236-11A=)
n.673A=
17g.63488637A>CCA8700051ACEc.2306-11A>C (n.2306-11A>C)
c.584-11A>C (n.584-11A>C)
c.*376-11A>C (n.*376-11A>C)
c.554A>C (n.554A>C)
c.*24A>C (n.*24A>C)
c.*226-11A>C (n.*226-11A>C)
c.74-11A>C (n.74-11A>C)
n.252-11A>C
c.1757-11A>C (n.1757-11A>C)
c.644-11A>C (n.644-11A>C)
c.1739-11A>C (n.1739-11A>C)
c.1454-11A>C (n.1454-11A>C)
c.236-11A>C (n.236-11A>C)
n.673A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488637A>GCA2580606847ACEc.2306-11A>G (n.2306-11A>G)
c.584-11A>G (n.584-11A>G)
c.*376-11A>G (n.*376-11A>G)
c.554A>G (n.554A>G)
c.*24A>G (n.*24A>G)
c.*226-11A>G (n.*226-11A>G)
c.74-11A>G (n.74-11A>G)
n.252-11A>G
c.1757-11A>G (n.1757-11A>G)
c.644-11A>G (n.644-11A>G)
c.1739-11A>G (n.1739-11A>G)
c.1454-11A>G (n.1454-11A>G)
c.236-11A>G (n.236-11A>G)
n.673A>G
17g.63488637A>TCA2580606846ACEc.2306-11A>T (n.2306-11A>T)
c.584-11A>T (n.584-11A>T)
c.*376-11A>T (n.*376-11A>T)
c.554A>T (n.554A>T)
c.*24A>T (n.*24A>T)
c.*226-11A>T (n.*226-11A>T)
c.74-11A>T (n.74-11A>T)
n.252-11A>T
c.1757-11A>T (n.1757-11A>T)
c.644-11A>T (n.644-11A>T)
c.1739-11A>T (n.1739-11A>T)
c.1454-11A>T (n.1454-11A>T)
c.236-11A>T (n.236-11A>T)
n.673A>T
17g.63488638C=CA2269945918ACEc.2306-10C= (n.2306-10C=)
c.584-10C= (n.584-10C=)
c.*376-10C= (n.*376-10C=)
c.555C= (n.555C=)
c.*25C= (n.*25C=)
c.*226-10C= (n.*226-10C=)
c.74-10C= (n.74-10C=)
n.252-10C=
c.1757-10C= (n.1757-10C=)
c.644-10C= (n.644-10C=)
c.1739-10C= (n.1739-10C=)
c.1454-10C= (n.1454-10C=)
c.236-10C= (n.236-10C=)
n.674C=
17g.63488638C>TCA8700052ACEc.2306-10C>T (n.2306-10C>T)
c.584-10C>T (n.584-10C>T)
c.*376-10C>T (n.*376-10C>T)
c.555C>T (n.555C>T)
c.*25C>T (n.*25C>T)
c.*226-10C>T (n.*226-10C>T)
c.74-10C>T (n.74-10C>T)
n.252-10C>T
c.1757-10C>T (n.1757-10C>T)
c.644-10C>T (n.644-10C>T)
c.1739-10C>T (n.1739-10C>T)
c.1454-10C>T (n.1454-10C>T)
c.236-10C>T (n.236-10C>T)
n.674C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488639C=CA2269945919ACEc.2306-9C= (n.2306-9C=)
c.584-9C= (n.584-9C=)
c.*376-9C= (n.*376-9C=)
c.556C= (n.556C=)
c.*26C= (n.*26C=)
c.*226-9C= (n.*226-9C=)
c.74-9C= (n.74-9C=)
n.252-9C=
c.1757-9C= (n.1757-9C=)
c.644-9C= (n.644-9C=)
c.1739-9C= (n.1739-9C=)
c.1454-9C= (n.1454-9C=)
c.236-9C= (n.236-9C=)
n.675C=
17g.63488639C>TCA773967034ACEc.2306-9C>T (n.2306-9C>T)
c.584-9C>T (n.584-9C>T)
c.*376-9C>T (n.*376-9C>T)
c.556C>T (n.556C>T)
c.*26C>T (n.*26C>T)
c.*226-9C>T (n.*226-9C>T)
c.74-9C>T (n.74-9C>T)
n.252-9C>T
c.1757-9C>T (n.1757-9C>T)
c.644-9C>T (n.644-9C>T)
c.1739-9C>T (n.1739-9C>T)
c.1454-9C>T (n.1454-9C>T)
c.236-9C>T (n.236-9C>T)
n.675C>T
dbSNP gnomAD v4
17g.63488640C=CA2269945920ACEc.2306-8C= (n.2306-8C=)
c.584-8C= (n.584-8C=)
c.*376-8C= (n.*376-8C=)
c.557C= (n.557C=)
c.*27C= (n.*27C=)
c.*226-8C= (n.*226-8C=)
c.74-8C= (n.74-8C=)
n.252-8C=
c.1757-8C= (n.1757-8C=)
c.644-8C= (n.644-8C=)
c.1739-8C= (n.1739-8C=)
c.1454-8C= (n.1454-8C=)
c.236-8C= (n.236-8C=)
n.676C=
17g.63488640C>TCA627148283ACEc.2306-8C>T (n.2306-8C>T)
c.584-8C>T (n.584-8C>T)
c.*376-8C>T (n.*376-8C>T)
c.557C>T (n.557C>T)
c.*27C>T (n.*27C>T)
c.*226-8C>T (n.*226-8C>T)
c.74-8C>T (n.74-8C>T)
n.252-8C>T
c.1757-8C>T (n.1757-8C>T)
c.644-8C>T (n.644-8C>T)
c.1739-8C>T (n.1739-8C>T)
c.1454-8C>T (n.1454-8C>T)
c.236-8C>T (n.236-8C>T)
n.676C>T
dbSNP gnomAD v2 gnomAD v4
17g.63488643A=CA2269945921ACEc.2306-5A= (n.2306-5A=)
c.584-5A= (n.584-5A=)
c.*376-5A= (n.*376-5A=)
c.560A= (n.560A=)
c.*30A= (n.*30A=)
c.*226-5A= (n.*226-5A=)
c.74-5A= (n.74-5A=)
n.252-5A=
c.1757-5A= (n.1757-5A=)
c.644-5A= (n.644-5A=)
c.1739-5A= (n.1739-5A=)
c.1454-5A= (n.1454-5A=)
c.236-5A= (n.236-5A=)
n.679A=
17g.63488643A>CCA985411592ACEc.2306-5A>C (n.2306-5A>C)
c.584-5A>C (n.584-5A>C)
c.*376-5A>C (n.*376-5A>C)
c.560A>C (n.560A>C)
c.*30A>C (n.*30A>C)
c.*226-5A>C (n.*226-5A>C)
c.74-5A>C (n.74-5A>C)
n.252-5A>C
c.1757-5A>C (n.1757-5A>C)
c.644-5A>C (n.644-5A>C)
c.1739-5A>C (n.1739-5A>C)
c.1454-5A>C (n.1454-5A>C)
c.236-5A>C (n.236-5A>C)
n.679A>C
gnomAD v3 gnomAD v4
17g.63488643A>GCA8700053ACEc.2306-5A>G (n.2306-5A>G)
c.584-5A>G (n.584-5A>G)
c.*376-5A>G (n.*376-5A>G)
c.560A>G (n.560A>G)
c.*30A>G (n.*30A>G)
c.*226-5A>G (n.*226-5A>G)
c.74-5A>G (n.74-5A>G)
n.252-5A>G
c.1757-5A>G (n.1757-5A>G)
c.644-5A>G (n.644-5A>G)
c.1739-5A>G (n.1739-5A>G)
c.1454-5A>G (n.1454-5A>G)
c.236-5A>G (n.236-5A>G)
n.679A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488643A>TCA2639263697ACEc.2306-5A>T (n.2306-5A>T)
c.584-5A>T (n.584-5A>T)
c.*376-5A>T (n.*376-5A>T)
c.560A>T (n.560A>T)
c.*30A>T (n.*30A>T)
c.*226-5A>T (n.*226-5A>T)
c.74-5A>T (n.74-5A>T)
n.252-5A>T
c.1757-5A>T (n.1757-5A>T)
c.644-5A>T (n.644-5A>T)
c.1739-5A>T (n.1739-5A>T)
c.1454-5A>T (n.1454-5A>T)
c.236-5A>T (n.236-5A>T)
n.679A>T
gnomAD v4
17g.63488644C>ACA627148285ACEc.2306-4C>A (n.2306-4C>A)
c.584-4C>A (n.584-4C>A)
c.*376-4C>A (n.*376-4C>A)
c.561C>A (n.561C>A)
c.*31C>A (n.*31C>A)
c.*226-4C>A (n.*226-4C>A)
c.74-4C>A (n.74-4C>A)
n.252-4C>A
c.1757-4C>A (n.1757-4C>A)
c.644-4C>A (n.644-4C>A)
c.1739-4C>A (n.1739-4C>A)
c.1454-4C>A (n.1454-4C>A)
c.236-4C>A (n.236-4C>A)
n.680C>A
dbSNP gnomAD v2 gnomAD v4
17g.63488644C=CA2269945922ACEc.2306-4C= (n.2306-4C=)
c.584-4C= (n.584-4C=)
c.*376-4C= (n.*376-4C=)
c.561C= (n.561C=)
c.*31C= (n.*31C=)
c.*226-4C= (n.*226-4C=)
c.74-4C= (n.74-4C=)
n.252-4C=
c.1757-4C= (n.1757-4C=)
c.644-4C= (n.644-4C=)
c.1739-4C= (n.1739-4C=)
c.1454-4C= (n.1454-4C=)
c.236-4C= (n.236-4C=)
n.680C=
17g.63488644C>GCA2269945923ACEc.2306-4C>G (n.2306-4C>G)
c.584-4C>G (n.584-4C>G)
c.*376-4C>G (n.*376-4C>G)
c.561C>G (n.561C>G)
c.*31C>G (n.*31C>G)
c.*226-4C>G (n.*226-4C>G)
c.74-4C>G (n.74-4C>G)
n.252-4C>G
c.1757-4C>G (n.1757-4C>G)
c.644-4C>G (n.644-4C>G)
c.1739-4C>G (n.1739-4C>G)
c.1454-4C>G (n.1454-4C>G)
c.236-4C>G (n.236-4C>G)
n.680C>G
dbSNP
17g.63488644C>TCA985411600ACEc.2306-4C>T (n.2306-4C>T)
c.584-4C>T (n.584-4C>T)
c.*376-4C>T (n.*376-4C>T)
c.561C>T (n.561C>T)
c.*31C>T (n.*31C>T)
c.*226-4C>T (n.*226-4C>T)
c.74-4C>T (n.74-4C>T)
n.252-4C>T
c.1757-4C>T (n.1757-4C>T)
c.644-4C>T (n.644-4C>T)
c.1739-4C>T (n.1739-4C>T)
c.1454-4C>T (n.1454-4C>T)
c.236-4C>T (n.236-4C>T)
n.680C>T
dbSNP gnomAD v3 gnomAD v4
17g.63488646A>CCA400557783ACEc.2306-2A>C (n.2306-2A>C)
c.584-2A>C (n.584-2A>C)
c.*376-2A>C (n.*376-2A>C)
c.563A>C (n.563A>C)
c.*33A>C (n.*33A>C)
c.*226-2A>C (n.*226-2A>C)
c.74-2A>C (n.74-2A>C)
n.252-2A>C
c.1757-2A>C (n.1757-2A>C)
c.644-2A>C (n.644-2A>C)
c.1739-2A>C (n.1739-2A>C)
c.1454-2A>C (n.1454-2A>C)
c.236-2A>C (n.236-2A>C)
n.682A>C
17g.63488646A>GCA400557784ACEc.2306-2A>G (n.2306-2A>G)
c.584-2A>G (n.584-2A>G)
c.*376-2A>G (n.*376-2A>G)
c.563A>G (n.563A>G)
c.*33A>G (n.*33A>G)
c.*226-2A>G (n.*226-2A>G)
c.74-2A>G (n.74-2A>G)
n.252-2A>G
c.1757-2A>G (n.1757-2A>G)
c.644-2A>G (n.644-2A>G)
c.1739-2A>G (n.1739-2A>G)
c.1454-2A>G (n.1454-2A>G)
c.236-2A>G (n.236-2A>G)
n.682A>G
gnomAD v4
17g.63488646A>TCA400557785ACEc.2306-2A>T (n.2306-2A>T)
c.584-2A>T (n.584-2A>T)
c.*376-2A>T (n.*376-2A>T)
c.563A>T (n.563A>T)
c.*33A>T (n.*33A>T)
c.*226-2A>T (n.*226-2A>T)
c.74-2A>T (n.74-2A>T)
n.252-2A>T
c.1757-2A>T (n.1757-2A>T)
c.644-2A>T (n.644-2A>T)
c.1739-2A>T (n.1739-2A>T)
c.1454-2A>T (n.1454-2A>T)
c.236-2A>T (n.236-2A>T)
n.682A>T
17g.63488647G>ACA400557786ACEc.2306-1G>A (n.2306-1G>A)
c.584-1G>A (n.584-1G>A)
c.*376-1G>A (n.*376-1G>A)
c.564G>A (n.564G>A)
c.*34G>A (n.*34G>A)
c.*226-1G>A (n.*226-1G>A)
c.74-1G>A (n.74-1G>A)
n.252-1G>A
c.1757-1G>A (n.1757-1G>A)
c.644-1G>A (n.644-1G>A)
c.1739-1G>A (n.1739-1G>A)
c.1454-1G>A (n.1454-1G>A)
c.236-1G>A (n.236-1G>A)
n.683G>A
17g.63488647G>CCA8700054ACEc.2306-1G>C (n.2306-1G>C)
c.584-1G>C (n.584-1G>C)
c.*376-1G>C (n.*376-1G>C)
c.564G>C (n.564G>C)
c.*34G>C (n.*34G>C)
c.*226-1G>C (n.*226-1G>C)
c.74-1G>C (n.74-1G>C)
n.252-1G>C
c.1757-1G>C (n.1757-1G>C)
c.644-1G>C (n.644-1G>C)
c.1739-1G>C (n.1739-1G>C)
c.1454-1G>C (n.1454-1G>C)
c.236-1G>C (n.236-1G>C)
n.683G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488647G=CA2269945924ACEc.2306-1G= (n.2306-1G=)
c.584-1G= (n.584-1G=)
c.*376-1G= (n.*376-1G=)
c.564G= (n.564G=)
c.*34G= (n.*34G=)
c.*226-1G= (n.*226-1G=)
c.74-1G= (n.74-1G=)
n.252-1G=
c.1757-1G= (n.1757-1G=)
c.644-1G= (n.644-1G=)
c.1739-1G= (n.1739-1G=)
c.1454-1G= (n.1454-1G=)
c.236-1G= (n.236-1G=)
n.683G=
17g.63488647G>TCA400557787ACEc.2306-1G>T (n.2306-1G>T)
c.584-1G>T (n.584-1G>T)
c.*376-1G>T (n.*376-1G>T)
c.564G>T (n.564G>T)
c.*34G>T (n.*34G>T)
c.*226-1G>T (n.*226-1G>T)
c.74-1G>T (n.74-1G>T)
n.252-1G>T
c.1757-1G>T (n.1757-1G>T)
c.644-1G>T (n.644-1G>T)
c.1739-1G>T (n.1739-1G>T)
c.1454-1G>T (n.1454-1G>T)
c.236-1G>T (n.236-1G>T)
n.683G>T
gnomAD v4
17g.63488648A=CA2269945925ACEc.2306A= (p.Asp769=)
c.584A= (p.Asp195=)
c.*376A= (n.*376A=)
c.565A= (n.565A=)
c.*35A= (n.*35A=)
c.*226A= (n.*226A=)
c.74A= (p.Asp25=)
n.252A=
c.1757A= (p.Asp586=)
c.644A= (p.Asp215=)
c.1739A= (p.Asp580=)
c.1454A= (p.Asp485=)
c.236A= (p.Asp79=)
n.684A=
17g.63488648A>CCA400557788ACEc.2306A>C (p.Asp769Ala)
c.584A>C (p.Asp195Ala)
c.*376A>C (n.*376A>C)
c.565A>C (n.565A>C)
c.*35A>C (n.*35A>C)
c.*226A>C (n.*226A>C)
c.74A>C (p.Asp25Ala)
n.252A>C
c.1757A>C (p.Asp586Ala)
c.644A>C (p.Asp215Ala)
c.1739A>C (p.Asp580Ala)
c.1454A>C (p.Asp485Ala)
c.236A>C (p.Asp79Ala)
n.684A>C
17g.63488648A>GCA8700055ACEc.2306A>G (p.Asp769Gly)
c.584A>G (p.Asp195Gly)
c.*376A>G (n.*376A>G)
c.565A>G (n.565A>G)
c.*35A>G (n.*35A>G)
c.*226A>G (n.*226A>G)
c.74A>G (p.Asp25Gly)
n.252A>G
c.1757A>G (p.Asp586Gly)
c.644A>G (p.Asp215Gly)
c.1739A>G (p.Asp580Gly)
c.1454A>G (p.Asp485Gly)
c.236A>G (p.Asp79Gly)
n.684A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488648A>TCA400557789ACEc.2306A>T (p.Asp769Val)
c.584A>T (p.Asp195Val)
c.*376A>T (n.*376A>T)
c.565A>T (n.565A>T)
c.*35A>T (n.*35A>T)
c.*226A>T (n.*226A>T)
c.74A>T (p.Asp25Val)
n.252A>T
c.1757A>T (p.Asp586Val)
c.644A>T (p.Asp215Val)
c.1739A>T (p.Asp580Val)
c.1454A>T (p.Asp485Val)
c.236A>T (p.Asp79Val)
n.684A>T
17g.63488649T>ACA400557790ACEc.2307T>A (p.Asp769Glu)
c.585T>A (p.Asp195Glu)
c.*377T>A (n.*377T>A)
c.566T>A (n.566T>A)
c.*36T>A (n.*36T>A)
c.*227T>A (n.*227T>A)
c.75T>A (p.Asp25Glu)
n.253T>A
c.1758T>A (p.Asp586Glu)
c.645T>A (p.Asp215Glu)
c.1740T>A (p.Asp580Glu)
c.1455T>A (p.Asp485Glu)
c.237T>A (p.Asp79Glu)
n.685T>A
17g.63488649T>CCA292883326ACEc.2307T>C (p.Asp769=)
c.585T>C (p.Asp195=)
c.*377T>C (n.*377T>C)
c.566T>C (n.566T>C)
c.*36T>C (n.*36T>C)
c.*227T>C (n.*227T>C)
c.75T>C (p.Asp25=)
n.253T>C
c.1758T>C (p.Asp586=)
c.645T>C (p.Asp215=)
c.1740T>C (p.Asp580=)
c.1455T>C (p.Asp485=)
c.237T>C (p.Asp79=)
n.685T>C
dbSNP
17g.63488649T>GCA400557791ACEc.2307T>G (p.Asp769Glu)
c.585T>G (p.Asp195Glu)
c.*377T>G (n.*377T>G)
c.566T>G (n.566T>G)
c.*36T>G (n.*36T>G)
c.*227T>G (n.*227T>G)
c.75T>G (p.Asp25Glu)
n.253T>G
c.1758T>G (p.Asp586Glu)
c.645T>G (p.Asp215Glu)
c.1740T>G (p.Asp580Glu)
c.1455T>G (p.Asp485Glu)
c.237T>G (p.Asp79Glu)
n.685T>G
17g.63488649T=CA2269945926ACEc.2307T= (p.Asp769=)
c.585T= (p.Asp195=)
c.*377T= (n.*377T=)
c.566T= (n.566T=)
c.*36T= (n.*36T=)
c.*227T= (n.*227T=)
c.75T= (p.Asp25=)
n.253T=
c.1758T= (p.Asp586=)
c.645T= (p.Asp215=)
c.1740T= (p.Asp580=)
c.1455T= (p.Asp485=)
c.237T= (p.Asp79=)
n.685T=
17g.63488650C>ACA400557792ACEc.2308C>A (p.Leu770Met)
c.586C>A (p.Leu196Met)
c.*378C>A (n.*378C>A)
c.567C>A (n.567C>A)
c.*37C>A (n.*37C>A)
c.*228C>A (n.*228C>A)
c.76C>A (p.Leu26Met)
n.254C>A
c.1759C>A (p.Leu587Met)
c.646C>A (p.Leu216Met)
c.1741C>A (p.Leu581Met)
c.1456C>A (p.Leu486Met)
c.238C>A (p.Leu80Met)
n.686C>A
17g.63488650C=CA2269945927ACEc.2308C= (p.Leu770=)
c.586C= (p.Leu196=)
c.*378C= (n.*378C=)
c.567C= (n.567C=)
c.*37C= (n.*37C=)
c.*228C= (n.*228C=)
c.76C= (p.Leu26=)
n.254C=
c.1759C= (p.Leu587=)
c.646C= (p.Leu216=)
c.1741C= (p.Leu581=)
c.1456C= (p.Leu486=)
c.238C= (p.Leu80=)
n.686C=
17g.63488650C>GCA8700056ACEc.2308C>G (p.Leu770Val)
c.586C>G (p.Leu196Val)
c.*378C>G (n.*378C>G)
c.567C>G (n.567C>G)
c.*37C>G (n.*37C>G)
c.*228C>G (n.*228C>G)
c.76C>G (p.Leu26Val)
n.254C>G
c.1759C>G (p.Leu587Val)
c.646C>G (p.Leu216Val)
c.1741C>G (p.Leu581Val)
c.1456C>G (p.Leu486Val)
c.238C>G (p.Leu80Val)
n.686C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488650C>TCA501186660ACEc.2308C>T (p.Leu770=)
c.586C>T (p.Leu196=)
c.*378C>T (n.*378C>T)
c.567C>T (n.567C>T)
c.*37C>T (n.*37C>T)
c.*228C>T (n.*228C>T)
c.76C>T (p.Leu26=)
n.254C>T
c.1759C>T (p.Leu587=)
c.646C>T (p.Leu216=)
c.1741C>T (p.Leu581=)
c.1456C>T (p.Leu486=)
c.238C>T (p.Leu80=)
n.686C>T
gnomAD v4 COSMIC COSMIC COSMIC
17g.63488651T>ACA400557793ACEc.2309T>A (p.Leu770Gln)
c.587T>A (p.Leu196Gln)
c.*379T>A (n.*379T>A)
c.568T>A (n.568T>A)
c.*38T>A (n.*38T>A)
c.*229T>A (n.*229T>A)
c.77T>A (p.Leu26Gln)
n.255T>A
c.1760T>A (p.Leu587Gln)
c.647T>A (p.Leu216Gln)
c.1742T>A (p.Leu581Gln)
c.1457T>A (p.Leu486Gln)
c.239T>A (p.Leu80Gln)
n.687T>A
17g.63488651T>CCA10650620ACEc.2309T>C (p.Leu770Pro)
c.587T>C (p.Leu196Pro)
c.*379T>C (n.*379T>C)
c.568T>C (n.568T>C)
c.*38T>C (n.*38T>C)
c.*229T>C (n.*229T>C)
c.77T>C (p.Leu26Pro)
n.255T>C
c.1760T>C (p.Leu587Pro)
c.647T>C (p.Leu216Pro)
c.1742T>C (p.Leu581Pro)
c.1457T>C (p.Leu486Pro)
c.239T>C (p.Leu80Pro)
n.687T>C
ClinVar dbSNP
17g.63488651T>GCA400557794ACEc.2309T>G (p.Leu770Arg)
c.587T>G (p.Leu196Arg)
c.*379T>G (n.*379T>G)
c.568T>G (n.568T>G)
c.*38T>G (n.*38T>G)
c.*229T>G (n.*229T>G)
c.77T>G (p.Leu26Arg)
n.255T>G
c.1760T>G (p.Leu587Arg)
c.647T>G (p.Leu216Arg)
c.1742T>G (p.Leu581Arg)
c.1457T>G (p.Leu486Arg)
c.239T>G (p.Leu80Arg)
n.687T>G
17g.63488651T=CA2269945928ACEc.2309T= (p.Leu770=)
c.587T= (p.Leu196=)
c.*379T= (n.*379T=)
c.568T= (n.568T=)
c.*38T= (n.*38T=)
c.*229T= (n.*229T=)
c.77T= (p.Leu26=)
n.255T=
c.1760T= (p.Leu587=)
c.647T= (p.Leu216=)
c.1742T= (p.Leu581=)
c.1457T= (p.Leu486=)
c.239T= (p.Leu80=)
n.687T=
17g.63488652G>ACA501186668ACEc.2310G>A (p.Leu770=)
c.588G>A (p.Leu196=)
c.*380G>A (n.*380G>A)
c.569G>A (n.569G>A)
c.*39G>A (n.*39G>A)
c.*230G>A (n.*230G>A)
c.78G>A (p.Leu26=)
n.256G>A
c.1761G>A (p.Leu587=)
c.648G>A (p.Leu216=)
c.1743G>A (p.Leu581=)
c.1458G>A (p.Leu486=)
c.240G>A (p.Leu80=)
n.688G>A
dbSNP gnomAD v4
17g.63488652G>CCA501186672ACEc.2310G>C (p.Leu770=)
c.588G>C (p.Leu196=)
c.*380G>C (n.*380G>C)
c.569G>C (n.569G>C)
c.*39G>C (n.*39G>C)
c.*230G>C (n.*230G>C)
c.78G>C (p.Leu26=)
n.256G>C
c.1761G>C (p.Leu587=)
c.648G>C (p.Leu216=)
c.1743G>C (p.Leu581=)
c.1458G>C (p.Leu486=)
c.240G>C (p.Leu80=)
n.688G>C
17g.63488652G=CA2269945929ACEc.2310G= (p.Leu770=)
c.588G= (p.Leu196=)
c.*380G= (n.*380G=)
c.569G= (n.569G=)
c.*39G= (n.*39G=)
c.*230G= (n.*230G=)
c.78G= (p.Leu26=)
n.256G=
c.1761G= (p.Leu587=)
c.648G= (p.Leu216=)
c.1743G= (p.Leu581=)
c.1458G= (p.Leu486=)
c.240G= (p.Leu80=)
n.688G=
17g.63488652G>TCA501186670ACEc.2310G>T (p.Leu770=)
c.588G>T (p.Leu196=)
c.*380G>T (n.*380G>T)
c.569G>T (n.569G>T)
c.*39G>T (n.*39G>T)
c.*230G>T (n.*230G>T)
c.78G>T (p.Leu26=)
n.256G>T
c.1761G>T (p.Leu587=)
c.648G>T (p.Leu216=)
c.1743G>T (p.Leu581=)
c.1458G>T (p.Leu486=)
c.240G>T (p.Leu80=)
n.688G>T
17g.63488653A>CCA400557797ACEc.2311A>C (p.Thr771Pro)
c.589A>C (p.Thr197Pro)
c.*381A>C (n.*381A>C)
c.570A>C (n.570A>C)
c.*40A>C (n.*40A>C)
c.*231A>C (n.*231A>C)
c.79A>C (p.Thr27Pro)
n.257A>C
c.1762A>C (p.Thr588Pro)
c.649A>C (p.Thr217Pro)
c.1744A>C (p.Thr582Pro)
c.1459A>C (p.Thr487Pro)
c.241A>C (p.Thr81Pro)
n.689A>C
17g.63488653A>GCA400557796ACEc.2311A>G (p.Thr771Ala)
c.589A>G (p.Thr197Ala)
c.*381A>G (n.*381A>G)
c.570A>G (n.570A>G)
c.*40A>G (n.*40A>G)
c.*231A>G (n.*231A>G)
c.79A>G (p.Thr27Ala)
n.257A>G
c.1762A>G (p.Thr588Ala)
c.649A>G (p.Thr217Ala)
c.1744A>G (p.Thr582Ala)
c.1459A>G (p.Thr487Ala)
c.241A>G (p.Thr81Ala)
n.689A>G
17g.63488653A>TCA400557795ACEc.2311A>T (p.Thr771Ser)
c.589A>T (p.Thr197Ser)
c.*381A>T (n.*381A>T)
c.570A>T (n.570A>T)
c.*40A>T (n.*40A>T)
c.*231A>T (n.*231A>T)
c.79A>T (p.Thr27Ser)
n.257A>T
c.1762A>T (p.Thr588Ser)
c.649A>T (p.Thr217Ser)
c.1744A>T (p.Thr582Ser)
c.1459A>T (p.Thr487Ser)
c.241A>T (p.Thr81Ser)
n.689A>T
gnomAD v3 gnomAD v4
17g.63488654C>ACA400557798ACEc.2312C>A (p.Thr771Lys)
c.590C>A (p.Thr197Lys)
c.*382C>A (n.*382C>A)
c.571C>A (n.571C>A)
c.*41C>A (n.*41C>A)
c.*232C>A (n.*232C>A)
c.80C>A (p.Thr27Lys)
n.258C>A
c.1763C>A (p.Thr588Lys)
c.650C>A (p.Thr217Lys)
c.1745C>A (p.Thr582Lys)
c.1460C>A (p.Thr487Lys)
c.242C>A (p.Thr81Lys)
n.690C>A
17g.63488654C=CA2269945930ACEc.2312C= (p.Thr771=)
c.590C= (p.Thr197=)
c.*382C= (n.*382C=)
c.571C= (n.571C=)
c.*41C= (n.*41C=)
c.*232C= (n.*232C=)
c.80C= (p.Thr27=)
n.258C=
c.1763C= (p.Thr588=)
c.650C= (p.Thr217=)
c.1745C= (p.Thr582=)
c.1460C= (p.Thr487=)
c.242C= (p.Thr81=)
n.690C=
17g.63488654C>GCA400557799ACEc.2312C>G (p.Thr771Arg)
c.590C>G (p.Thr197Arg)
c.*382C>G (n.*382C>G)
c.571C>G (n.571C>G)
c.*41C>G (n.*41C>G)
c.*232C>G (n.*232C>G)
c.80C>G (p.Thr27Arg)
n.258C>G
c.1763C>G (p.Thr588Arg)
c.650C>G (p.Thr217Arg)
c.1745C>G (p.Thr582Arg)
c.1460C>G (p.Thr487Arg)
c.242C>G (p.Thr81Arg)
n.690C>G
17g.63488654C>TCA8700057ACEc.2312C>T (p.Thr771Met)
c.590C>T (p.Thr197Met)
c.*382C>T (n.*382C>T)
c.571C>T (n.571C>T)
c.*41C>T (n.*41C>T)
c.*232C>T (n.*232C>T)
c.80C>T (p.Thr27Met)
n.258C>T
c.1763C>T (p.Thr588Met)
c.650C>T (p.Thr217Met)
c.1745C>T (p.Thr582Met)
c.1460C>T (p.Thr487Met)
c.242C>T (p.Thr81Met)
n.690C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488655G>ACA8700058ACEc.2313G>A (p.Thr771=)
c.591G>A (p.Thr197=)
c.*383G>A (n.*383G>A)
c.572G>A (n.572G>A)
c.*42G>A (n.*42G>A)
c.*233G>A (n.*233G>A)
c.81G>A (p.Thr27=)
n.259G>A
c.1764G>A (p.Thr588=)
c.651G>A (p.Thr217=)
c.1746G>A (p.Thr582=)
c.1461G>A (p.Thr487=)
c.243G>A (p.Thr81=)
n.691G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
17g.63488655G>CCA501186685ACEc.2313G>C (p.Thr771=)
c.591G>C (p.Thr197=)
c.*383G>C (n.*383G>C)
c.572G>C (n.572G>C)
c.*42G>C (n.*42G>C)
c.*233G>C (n.*233G>C)
c.81G>C (p.Thr27=)
n.259G>C
c.1764G>C (p.Thr588=)
c.651G>C (p.Thr217=)
c.1746G>C (p.Thr582=)
c.1461G>C (p.Thr487=)
c.243G>C (p.Thr81=)
n.691G>C
17g.63488655G=CA2269945931ACEc.2313G= (p.Thr771=)
c.591G= (p.Thr197=)
c.*383G= (n.*383G=)
c.572G= (n.572G=)
c.*42G= (n.*42G=)
c.*233G= (n.*233G=)
c.81G= (p.Thr27=)
n.259G=
c.1764G= (p.Thr588=)
c.651G= (p.Thr217=)
c.1746G= (p.Thr582=)
c.1461G= (p.Thr487=)
c.243G= (p.Thr81=)
n.691G=
17g.63488655G>TCA501186688ACEc.2313G>T (p.Thr771=)
c.591G>T (p.Thr197=)
c.*383G>T (n.*383G>T)
c.572G>T (n.572G>T)
c.*42G>T (n.*42G>T)
c.*233G>T (n.*233G>T)
c.81G>T (p.Thr27=)
n.259G>T
c.1764G>T (p.Thr588=)
c.651G>T (p.Thr217=)
c.1746G>T (p.Thr582=)
c.1461G>T (p.Thr487=)
c.243G>T (p.Thr81=)
n.691G>T
dbSNP gnomAD v2 gnomAD v4
17g.63488656A>CCA400557800ACEc.2314A>C (p.Asn772His)
c.592A>C (p.Asn198His)
c.*384A>C (n.*384A>C)
c.573A>C (n.573A>C)
c.*43A>C (n.*43A>C)
c.*234A>C (n.*234A>C)
c.82A>C (p.Asn28His)
n.260A>C
c.1765A>C (p.Asn589His)
c.652A>C (p.Asn218His)
c.1747A>C (p.Asn583His)
c.1462A>C (p.Asn488His)
c.244A>C (p.Asn82His)
n.692A>C
17g.63488656A>GCA400557801ACEc.2314A>G (p.Asn772Asp)
c.592A>G (p.Asn198Asp)
c.*384A>G (n.*384A>G)
c.573A>G (n.573A>G)
c.*43A>G (n.*43A>G)
c.*234A>G (n.*234A>G)
c.82A>G (p.Asn28Asp)
n.260A>G
c.1765A>G (p.Asn589Asp)
c.652A>G (p.Asn218Asp)
c.1747A>G (p.Asn583Asp)
c.1462A>G (p.Asn488Asp)
c.244A>G (p.Asn82Asp)
n.692A>G
17g.63488656A>TCA400557802ACEc.2314A>T (p.Asn772Tyr)
c.592A>T (p.Asn198Tyr)
c.*384A>T (n.*384A>T)
c.573A>T (n.573A>T)
c.*43A>T (n.*43A>T)
c.*234A>T (n.*234A>T)
c.82A>T (p.Asn28Tyr)
n.260A>T
c.1765A>T (p.Asn589Tyr)
c.652A>T (p.Asn218Tyr)
c.1747A>T (p.Asn583Tyr)
c.1462A>T (p.Asn488Tyr)
c.244A>T (p.Asn82Tyr)
n.692A>T
17g.63488656_63488671delCA985411614ACEc.2314_2329del (p.Asn772ProfsTer?)
c.592_607del (p.Asn198ProfsTer?)
c.*384_*399del (n.*384_*399del)
c.573_588del (n.573_588del)
c.*43_*58del (n.*43_*58del)
c.*234_*249del (n.*234_*249del)
c.82_97del (p.Asn28ProfsTer?)
n.260_275del
c.1765_1780del (p.Asn589ProfsTer?)
c.652_667del (p.Asn218ProfsTer?)
c.1747_1762del (p.Asn583ProfsTer?)
c.1462_1477del (p.Asn488ProfsTer?)
c.244_259del (p.Asn82ProfsTer?)
n.692_707del
gnomAD v3 gnomAD v4
17g.63488657A>CCA400557803ACEc.2315A>C (p.Asn772Thr)
c.593A>C (p.Asn198Thr)
c.*385A>C (n.*385A>C)
c.574A>C (n.574A>C)
c.*44A>C (n.*44A>C)
c.*235A>C (n.*235A>C)
c.83A>C (p.Asn28Thr)
n.261A>C
c.1766A>C (p.Asn589Thr)
c.653A>C (p.Asn218Thr)
c.1748A>C (p.Asn583Thr)
c.1463A>C (p.Asn488Thr)
c.245A>C (p.Asn82Thr)
n.693A>C
17g.63488657A>GCA400557804ACEc.2315A>G (p.Asn772Ser)
c.593A>G (p.Asn198Ser)
c.*385A>G (n.*385A>G)
c.574A>G (n.574A>G)
c.*44A>G (n.*44A>G)
c.*235A>G (n.*235A>G)
c.83A>G (p.Asn28Ser)
n.261A>G
c.1766A>G (p.Asn589Ser)
c.653A>G (p.Asn218Ser)
c.1748A>G (p.Asn583Ser)
c.1463A>G (p.Asn488Ser)
c.245A>G (p.Asn82Ser)
n.693A>G
17g.63488657A>TCA400557805ACEc.2315A>T (p.Asn772Ile)
c.593A>T (p.Asn198Ile)
c.*385A>T (n.*385A>T)
c.574A>T (n.574A>T)
c.*44A>T (n.*44A>T)
c.*235A>T (n.*235A>T)
c.83A>T (p.Asn28Ile)
n.261A>T
c.1766A>T (p.Asn589Ile)
c.653A>T (p.Asn218Ile)
c.1748A>T (p.Asn583Ile)
c.1463A>T (p.Asn488Ile)
c.245A>T (p.Asn82Ile)
n.693A>T
17g.63488658T>ACA400557806ACEc.2316T>A (p.Asn772Lys)
c.594T>A (p.Asn198Lys)
c.*386T>A (n.*386T>A)
c.575T>A (n.575T>A)
c.*45T>A (n.*45T>A)
c.*236T>A (n.*236T>A)
c.84T>A (p.Asn28Lys)
n.262T>A
c.1767T>A (p.Asn589Lys)
c.654T>A (p.Asn218Lys)
c.1749T>A (p.Asn583Lys)
c.1464T>A (p.Asn488Lys)
c.246T>A (p.Asn82Lys)
n.694T>A
17g.63488658T>CCA501186702ACEc.2316T>C (p.Asn772=)
c.594T>C (p.Asn198=)
c.*386T>C (n.*386T>C)
c.575T>C (n.575T>C)
c.*45T>C (n.*45T>C)
c.*236T>C (n.*236T>C)
c.84T>C (p.Asn28=)
n.262T>C
c.1767T>C (p.Asn589=)
c.654T>C (p.Asn218=)
c.1749T>C (p.Asn583=)
c.1464T>C (p.Asn488=)
c.246T>C (p.Asn82=)
n.694T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488658T>GCA400557807ACEc.2316T>G (p.Asn772Lys)
c.594T>G (p.Asn198Lys)
c.*386T>G (n.*386T>G)
c.575T>G (n.575T>G)
c.*45T>G (n.*45T>G)
c.*236T>G (n.*236T>G)
c.84T>G (p.Asn28Lys)
n.262T>G
c.1767T>G (p.Asn589Lys)
c.654T>G (p.Asn218Lys)
c.1749T>G (p.Asn583Lys)
c.1464T>G (p.Asn488Lys)
c.246T>G (p.Asn82Lys)
n.694T>G
17g.63488658T=CA2269945932ACEc.2316T= (p.Asn772=)
c.594T= (p.Asn198=)
c.*386T= (n.*386T=)
c.575T= (n.575T=)
c.*45T= (n.*45T=)
c.*236T= (n.*236T=)
c.84T= (p.Asn28=)
n.262T=
c.1767T= (p.Asn589=)
c.654T= (p.Asn218=)
c.1749T= (p.Asn583=)
c.1464T= (p.Asn488=)
c.246T= (p.Asn82=)
n.694T=
17g.63488659G>ACA8700059ACEc.2317G>A (p.Val773Met)
c.595G>A (p.Val199Met)
c.*387G>A (n.*387G>A)
c.576G>A (n.576G>A)
c.*46G>A (n.*46G>A)
c.*237G>A (n.*237G>A)
c.85G>A (p.Val29Met)
n.263G>A
c.1768G>A (p.Val590Met)
c.655G>A (p.Val219Met)
c.1750G>A (p.Val584Met)
c.1465G>A (p.Val489Met)
c.247G>A (p.Val83Met)
n.695G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488659G>CCA400557809ACEc.2317G>C (p.Val773Leu)
c.595G>C (p.Val199Leu)
c.*387G>C (n.*387G>C)
c.576G>C (n.576G>C)
c.*46G>C (n.*46G>C)
c.*237G>C (n.*237G>C)
c.85G>C (p.Val29Leu)
n.263G>C
c.1768G>C (p.Val590Leu)
c.655G>C (p.Val219Leu)
c.1750G>C (p.Val584Leu)
c.1465G>C (p.Val489Leu)
c.247G>C (p.Val83Leu)
n.695G>C
17g.63488659G=CA2269945933ACEc.2317G= (p.Val773=)
c.595G= (p.Val199=)
c.*387G= (n.*387G=)
c.576G= (n.576G=)
c.*46G= (n.*46G=)
c.*237G= (n.*237G=)
c.85G= (p.Val29=)
n.263G=
c.1768G= (p.Val590=)
c.655G= (p.Val219=)
c.1750G= (p.Val584=)
c.1465G= (p.Val489=)
c.247G= (p.Val83=)
n.695G=
17g.63488659G>TCA400557808ACEc.2317G>T (p.Val773Leu)
c.595G>T (p.Val199Leu)
c.*387G>T (n.*387G>T)
c.576G>T (n.576G>T)
c.*46G>T (n.*46G>T)
c.*237G>T (n.*237G>T)
c.85G>T (p.Val29Leu)
n.263G>T
c.1768G>T (p.Val590Leu)
c.655G>T (p.Val219Leu)
c.1750G>T (p.Val584Leu)
c.1465G>T (p.Val489Leu)
c.247G>T (p.Val83Leu)
n.695G>T
17g.63488660T>ACA400557810ACEc.2318T>A (p.Val773Glu)
c.596T>A (p.Val199Glu)
c.*388T>A (n.*388T>A)
c.577T>A (n.577T>A)
c.*47T>A (n.*47T>A)
c.*238T>A (n.*238T>A)
c.86T>A (p.Val29Glu)
n.264T>A
c.1769T>A (p.Val590Glu)
c.656T>A (p.Val219Glu)
c.1751T>A (p.Val584Glu)
c.1466T>A (p.Val489Glu)
c.248T>A (p.Val83Glu)
n.696T>A
17g.63488660T>CCA400557811ACEc.2318T>C (p.Val773Ala)
c.596T>C (p.Val199Ala)
c.*388T>C (n.*388T>C)
c.577T>C (n.577T>C)
c.*47T>C (n.*47T>C)
c.*238T>C (n.*238T>C)
c.86T>C (p.Val29Ala)
n.264T>C
c.1769T>C (p.Val590Ala)
c.656T>C (p.Val219Ala)
c.1751T>C (p.Val584Ala)
c.1466T>C (p.Val489Ala)
c.248T>C (p.Val83Ala)
n.696T>C
17g.63488660T>GCA400557812ACEc.2318T>G (p.Val773Gly)
c.596T>G (p.Val199Gly)
c.*388T>G (n.*388T>G)
c.577T>G (n.577T>G)
c.*47T>G (n.*47T>G)
c.*238T>G (n.*238T>G)
c.86T>G (p.Val29Gly)
n.264T>G
c.1769T>G (p.Val590Gly)
c.656T>G (p.Val219Gly)
c.1751T>G (p.Val584Gly)
c.1466T>G (p.Val489Gly)
c.248T>G (p.Val83Gly)
n.696T>G
17g.63488661G>ACA501186712ACEc.2319G>A (p.Val773=)
c.597G>A (p.Val199=)
c.*389G>A (n.*389G>A)
c.578G>A (n.578G>A)
c.*48G>A (n.*48G>A)
c.*239G>A (n.*239G>A)
c.87G>A (p.Val29=)
n.265G>A
c.1770G>A (p.Val590=)
c.657G>A (p.Val219=)
c.1752G>A (p.Val584=)
c.1467G>A (p.Val489=)
c.249G>A (p.Val83=)
n.697G>A
17g.63488661G>CCA501186714ACEc.2319G>C (p.Val773=)
c.597G>C (p.Val199=)
c.*389G>C (n.*389G>C)
c.578G>C (n.578G>C)
c.*48G>C (n.*48G>C)
c.*239G>C (n.*239G>C)
c.87G>C (p.Val29=)
n.265G>C
c.1770G>C (p.Val590=)
c.657G>C (p.Val219=)
c.1752G>C (p.Val584=)
c.1467G>C (p.Val489=)
c.249G>C (p.Val83=)
n.697G>C
17g.63488661G>TCA501186716ACEc.2319G>T (p.Val773=)
c.597G>T (p.Val199=)
c.*389G>T (n.*389G>T)
c.578G>T (n.578G>T)
c.*48G>T (n.*48G>T)
c.*239G>T (n.*239G>T)
c.87G>T (p.Val29=)
n.265G>T
c.1770G>T (p.Val590=)
c.657G>T (p.Val219=)
c.1752G>T (p.Val584=)
c.1467G>T (p.Val489=)
c.249G>T (p.Val83=)
n.697G>T
17g.63488662A=CA2269945934ACEc.2320A= (p.Met774=)
c.598A= (p.Met200=)
c.*390A= (n.*390A=)
c.579A= (n.579A=)
c.*49A= (n.*49A=)
c.*240A= (n.*240A=)
c.88A= (p.Met30=)
n.266A=
c.1771A= (p.Met591=)
c.658A= (p.Met220=)
c.1753A= (p.Met585=)
c.1468A= (p.Met490=)
c.250A= (p.Met84=)
n.698A=
17g.63488662A>CCA400557813ACEc.2320A>C (p.Met774Leu)
c.598A>C (p.Met200Leu)
c.*390A>C (n.*390A>C)
c.579A>C (n.579A>C)
c.*49A>C (n.*49A>C)
c.*240A>C (n.*240A>C)
c.88A>C (p.Met30Leu)
n.266A>C
c.1771A>C (p.Met591Leu)
c.658A>C (p.Met220Leu)
c.1753A>C (p.Met585Leu)
c.1468A>C (p.Met490Leu)
c.250A>C (p.Met84Leu)
n.698A>C
17g.63488662A>GCA8700060ACEc.2320A>G (p.Met774Val)
c.598A>G (p.Met200Val)
c.*390A>G (n.*390A>G)
c.579A>G (n.579A>G)
c.*49A>G (n.*49A>G)
c.*240A>G (n.*240A>G)
c.88A>G (p.Met30Val)
n.266A>G
c.1771A>G (p.Met591Val)
c.658A>G (p.Met220Val)
c.1753A>G (p.Met585Val)
c.1468A>G (p.Met490Val)
c.250A>G (p.Met84Val)
n.698A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488662A>TCA400557814ACEc.2320A>T (p.Met774Leu)
c.598A>T (p.Met200Leu)
c.*390A>T (n.*390A>T)
c.579A>T (n.579A>T)
c.*49A>T (n.*49A>T)
c.*240A>T (n.*240A>T)
c.88A>T (p.Met30Leu)
n.266A>T
c.1771A>T (p.Met591Leu)
c.658A>T (p.Met220Leu)
c.1753A>T (p.Met585Leu)
c.1468A>T (p.Met490Leu)
c.250A>T (p.Met84Leu)
n.698A>T
17g.63488663T>ACA400557815ACEc.2321T>A (p.Met774Lys)
c.599T>A (p.Met200Lys)
c.*391T>A (n.*391T>A)
c.580T>A (n.580T>A)
c.*50T>A (n.*50T>A)
c.*241T>A (n.*241T>A)
c.89T>A (p.Met30Lys)
n.267T>A
c.1772T>A (p.Met591Lys)
c.659T>A (p.Met220Lys)
c.1754T>A (p.Met585Lys)
c.1469T>A (p.Met490Lys)
c.251T>A (p.Met84Lys)
n.699T>A
17g.63488663T>CCA400557816ACEc.2321T>C (p.Met774Thr)
c.599T>C (p.Met200Thr)
c.*391T>C (n.*391T>C)
c.580T>C (n.580T>C)
c.*50T>C (n.*50T>C)
c.*241T>C (n.*241T>C)
c.89T>C (p.Met30Thr)
n.267T>C
c.1772T>C (p.Met591Thr)
c.659T>C (p.Met220Thr)
c.1754T>C (p.Met585Thr)
c.1469T>C (p.Met490Thr)
c.251T>C (p.Met84Thr)
n.699T>C
gnomAD v4
17g.63488663T>GCA400557817ACEc.2321T>G (p.Met774Arg)
c.599T>G (p.Met200Arg)
c.*391T>G (n.*391T>G)
c.580T>G (n.580T>G)
c.*50T>G (n.*50T>G)
c.*241T>G (n.*241T>G)
c.89T>G (p.Met30Arg)
n.267T>G
c.1772T>G (p.Met591Arg)
c.659T>G (p.Met220Arg)
c.1754T>G (p.Met585Arg)
c.1469T>G (p.Met490Arg)
c.251T>G (p.Met84Arg)
n.699T>G
17g.63488664G>ACA400557818ACEc.2322G>A (p.Met774Ile)
c.600G>A (p.Met200Ile)
c.*392G>A (n.*392G>A)
c.581G>A (n.581G>A)
c.*51G>A (n.*51G>A)
c.*242G>A (n.*242G>A)
c.90G>A (p.Met30Ile)
n.268G>A
c.1773G>A (p.Met591Ile)
c.660G>A (p.Met220Ile)
c.1755G>A (p.Met585Ile)
c.1470G>A (p.Met490Ile)
c.252G>A (p.Met84Ile)
n.700G>A
17g.63488664G>CCA400557819ACEc.2322G>C (p.Met774Ile)
c.600G>C (p.Met200Ile)
c.*392G>C (n.*392G>C)
c.581G>C (n.581G>C)
c.*51G>C (n.*51G>C)
c.*242G>C (n.*242G>C)
c.90G>C (p.Met30Ile)
n.268G>C
c.1773G>C (p.Met591Ile)
c.660G>C (p.Met220Ile)
c.1755G>C (p.Met585Ile)
c.1470G>C (p.Met490Ile)
c.252G>C (p.Met84Ile)
n.700G>C
17g.63488664G>TCA400557820ACEc.2322G>T (p.Met774Ile)
c.600G>T (p.Met200Ile)
c.*392G>T (n.*392G>T)
c.581G>T (n.581G>T)
c.*51G>T (n.*51G>T)
c.*242G>T (n.*242G>T)
c.90G>T (p.Met30Ile)
n.268G>T
c.1773G>T (p.Met591Ile)
c.660G>T (p.Met220Ile)
c.1755G>T (p.Met585Ile)
c.1470G>T (p.Met490Ile)
c.252G>T (p.Met84Ile)
n.700G>T
17g.63488665G>ACA400557823ACEc.2323G>A (p.Ala775Thr)
c.601G>A (p.Ala201Thr)
c.*393G>A (n.*393G>A)
c.582G>A (n.582G>A)
c.*52G>A (n.*52G>A)
c.*243G>A (n.*243G>A)
c.91G>A (p.Ala31Thr)
n.269G>A
c.1774G>A (p.Ala592Thr)
c.661G>A (p.Ala221Thr)
c.1756G>A (p.Ala586Thr)
c.1471G>A (p.Ala491Thr)
c.253G>A (p.Ala85Thr)
n.701G>A
17g.63488665G>CCA400557822ACEc.2323G>C (p.Ala775Pro)
c.601G>C (p.Ala201Pro)
c.*393G>C (n.*393G>C)
c.582G>C (n.582G>C)
c.*52G>C (n.*52G>C)
c.*243G>C (n.*243G>C)
c.91G>C (p.Ala31Pro)
n.269G>C
c.1774G>C (p.Ala592Pro)
c.661G>C (p.Ala221Pro)
c.1756G>C (p.Ala586Pro)
c.1471G>C (p.Ala491Pro)
c.253G>C (p.Ala85Pro)
n.701G>C
17g.63488665G>TCA400557821ACEc.2323G>T (p.Ala775Ser)
c.601G>T (p.Ala201Ser)
c.*393G>T (n.*393G>T)
c.582G>T (n.582G>T)
c.*52G>T (n.*52G>T)
c.*243G>T (n.*243G>T)
c.91G>T (p.Ala31Ser)
n.269G>T
c.1774G>T (p.Ala592Ser)
c.661G>T (p.Ala221Ser)
c.1756G>T (p.Ala586Ser)
c.1471G>T (p.Ala491Ser)
c.253G>T (p.Ala85Ser)
n.701G>T
17g.63488666C>ACA400557824ACEc.2324C>A (p.Ala775Asp)
c.602C>A (p.Ala201Asp)
c.*394C>A (n.*394C>A)
c.583C>A (n.583C>A)
c.*53C>A (n.*53C>A)
c.*244C>A (n.*244C>A)
c.92C>A (p.Ala31Asp)
n.270C>A
c.1775C>A (p.Ala592Asp)
c.662C>A (p.Ala221Asp)
c.1757C>A (p.Ala586Asp)
c.1472C>A (p.Ala491Asp)
c.254C>A (p.Ala85Asp)
n.702C>A
gnomAD v4
17g.63488666C=CA2269945935ACEc.2324C= (p.Ala775=)
c.602C= (p.Ala201=)
c.*394C= (n.*394C=)
c.583C= (n.583C=)
c.*53C= (n.*53C=)
c.*244C= (n.*244C=)
c.92C= (p.Ala31=)
n.270C=
c.1775C= (p.Ala592=)
c.662C= (p.Ala221=)
c.1757C= (p.Ala586=)
c.1472C= (p.Ala491=)
c.254C= (p.Ala85=)
n.702C=
17g.63488666C>GCA400557826ACEc.2324C>G (p.Ala775Gly)
c.602C>G (p.Ala201Gly)
c.*394C>G (n.*394C>G)
c.583C>G (n.583C>G)
c.*53C>G (n.*53C>G)
c.*244C>G (n.*244C>G)
c.92C>G (p.Ala31Gly)
n.270C>G
c.1775C>G (p.Ala592Gly)
c.662C>G (p.Ala221Gly)
c.1757C>G (p.Ala586Gly)
c.1472C>G (p.Ala491Gly)
c.254C>G (p.Ala85Gly)
n.702C>G
17g.63488666C>TCA400557825ACEc.2324C>T (p.Ala775Val)
c.602C>T (p.Ala201Val)
c.*394C>T (n.*394C>T)
c.583C>T (n.583C>T)
c.*53C>T (n.*53C>T)
c.*244C>T (n.*244C>T)
c.92C>T (p.Ala31Val)
n.270C>T
c.1775C>T (p.Ala592Val)
c.662C>T (p.Ala221Val)
c.1757C>T (p.Ala586Val)
c.1472C>T (p.Ala491Val)
c.254C>T (p.Ala85Val)
n.702C>T
dbSNP gnomAD v2 COSMIC COSMIC COSMIC
17g.63488667C>ACA501186741ACEc.2325C>A (p.Ala775=)
c.603C>A (p.Ala201=)
c.*395C>A (n.*395C>A)
c.584C>A (n.584C>A)
c.*54C>A (n.*54C>A)
c.*245C>A (n.*245C>A)
c.93C>A (p.Ala31=)
n.271C>A
c.1776C>A (p.Ala592=)
c.663C>A (p.Ala221=)
c.1758C>A (p.Ala586=)
c.1473C>A (p.Ala491=)
c.255C>A (p.Ala85=)
n.703C>A
17g.63488667C>GCA501186742ACEc.2325C>G (p.Ala775=)
c.603C>G (p.Ala201=)
c.*395C>G (n.*395C>G)
c.584C>G (n.584C>G)
c.*54C>G (n.*54C>G)
c.*245C>G (n.*245C>G)
c.93C>G (p.Ala31=)
n.271C>G
c.1776C>G (p.Ala592=)
c.663C>G (p.Ala221=)
c.1758C>G (p.Ala586=)
c.1473C>G (p.Ala491=)
c.255C>G (p.Ala85=)
n.703C>G
17g.63488667C>TCA501186745ACEc.2325C>T (p.Ala775=)
c.603C>T (p.Ala201=)
c.*395C>T (n.*395C>T)
c.584C>T (n.584C>T)
c.*54C>T (n.*54C>T)
c.*245C>T (n.*245C>T)
c.93C>T (p.Ala31=)
n.271C>T
c.1776C>T (p.Ala592=)
c.663C>T (p.Ala221=)
c.1758C>T (p.Ala586=)
c.1473C>T (p.Ala491=)
c.255C>T (p.Ala85=)
n.703C>T
17g.63488668A=CA2269945936ACEc.2326A= (p.Thr776=)
c.604A= (p.Thr202=)
c.*396A= (n.*396A=)
c.585A= (n.585A=)
c.*55A= (n.*55A=)
c.*246A= (n.*246A=)
c.94A= (p.Thr32=)
n.272A=
c.1777A= (p.Thr593=)
c.664A= (p.Thr222=)
c.1759A= (p.Thr587=)
c.1474A= (p.Thr492=)
c.256A= (p.Thr86=)
n.704A=
17g.63488668A>CCA400557827ACEc.2326A>C (p.Thr776Pro)
c.604A>C (p.Thr202Pro)
c.*396A>C (n.*396A>C)
c.585A>C (n.585A>C)
c.*55A>C (n.*55A>C)
c.*246A>C (n.*246A>C)
c.94A>C (p.Thr32Pro)
n.272A>C
c.1777A>C (p.Thr593Pro)
c.664A>C (p.Thr222Pro)
c.1759A>C (p.Thr587Pro)
c.1474A>C (p.Thr492Pro)
c.256A>C (p.Thr86Pro)
n.704A>C
17g.63488668A>GCA8700061ACEc.2326A>G (p.Thr776Ala)
c.604A>G (p.Thr202Ala)
c.*396A>G (n.*396A>G)
c.585A>G (n.585A>G)
c.*55A>G (n.*55A>G)
c.*246A>G (n.*246A>G)
c.94A>G (p.Thr32Ala)
n.272A>G
c.1777A>G (p.Thr593Ala)
c.664A>G (p.Thr222Ala)
c.1759A>G (p.Thr587Ala)
c.1474A>G (p.Thr492Ala)
c.256A>G (p.Thr86Ala)
n.704A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488668A>TCA400557828ACEc.2326A>T (p.Thr776Ser)
c.604A>T (p.Thr202Ser)
c.*396A>T (n.*396A>T)
c.585A>T (n.585A>T)
c.*55A>T (n.*55A>T)
c.*246A>T (n.*246A>T)
c.94A>T (p.Thr32Ser)
n.272A>T
c.1777A>T (p.Thr593Ser)
c.664A>T (p.Thr222Ser)
c.1759A>T (p.Thr587Ser)
c.1474A>T (p.Thr492Ser)
c.256A>T (p.Thr86Ser)
n.704A>T
17g.63488669C>ACA400557829ACEc.2327C>A (p.Thr776Lys)
c.605C>A (p.Thr202Lys)
c.*397C>A (n.*397C>A)
c.586C>A (n.586C>A)
c.*56C>A (n.*56C>A)
c.*247C>A (n.*247C>A)
c.95C>A (p.Thr32Lys)
n.273C>A
c.1778C>A (p.Thr593Lys)
c.665C>A (p.Thr222Lys)
c.1760C>A (p.Thr587Lys)
c.1475C>A (p.Thr492Lys)
c.257C>A (p.Thr86Lys)
n.705C>A
dbSNP gnomAD v2 gnomAD v4
17g.63488669C=CA2269945937ACEc.2327C= (p.Thr776=)
c.605C= (p.Thr202=)
c.*397C= (n.*397C=)
c.586C= (n.586C=)
c.*56C= (n.*56C=)
c.*247C= (n.*247C=)
c.95C= (p.Thr32=)
n.273C=
c.1778C= (p.Thr593=)
c.665C= (p.Thr222=)
c.1760C= (p.Thr587=)
c.1475C= (p.Thr492=)
c.257C= (p.Thr86=)
n.705C=
17g.63488669C>GCA400557830ACEc.2327C>G (p.Thr776Arg)
c.605C>G (p.Thr202Arg)
c.*397C>G (n.*397C>G)
c.586C>G (n.586C>G)
c.*56C>G (n.*56C>G)
c.*247C>G (n.*247C>G)
c.95C>G (p.Thr32Arg)
n.273C>G
c.1778C>G (p.Thr593Arg)
c.665C>G (p.Thr222Arg)
c.1760C>G (p.Thr587Arg)
c.1475C>G (p.Thr492Arg)
c.257C>G (p.Thr86Arg)
n.705C>G
17g.63488669C>TCA8700062ACEc.2327C>T (p.Thr776Met)
c.605C>T (p.Thr202Met)
c.*397C>T (n.*397C>T)
c.586C>T (n.586C>T)
c.*56C>T (n.*56C>T)
c.*247C>T (n.*247C>T)
c.95C>T (p.Thr32Met)
n.273C>T
c.1778C>T (p.Thr593Met)
c.665C>T (p.Thr222Met)
c.1760C>T (p.Thr587Met)
c.1475C>T (p.Thr492Met)
c.257C>T (p.Thr86Met)
n.705C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488670G>ACA8700063ACEc.2328G>A (p.Thr776=)
c.606G>A (p.Thr202=)
c.*398G>A (n.*398G>A)
c.587G>A (n.587G>A)
c.*57G>A (n.*57G>A)
c.*248G>A (n.*248G>A)
c.96G>A (p.Thr32=)
n.274G>A
c.1779G>A (p.Thr593=)
c.666G>A (p.Thr222=)
c.1761G>A (p.Thr587=)
c.1476G>A (p.Thr492=)
c.258G>A (p.Thr86=)
n.706G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488670G>CCA501186757ACEc.2328G>C (p.Thr776=)
c.606G>C (p.Thr202=)
c.*398G>C (n.*398G>C)
c.587G>C (n.587G>C)
c.*57G>C (n.*57G>C)
c.*248G>C (n.*248G>C)
c.96G>C (p.Thr32=)
n.274G>C
c.1779G>C (p.Thr593=)
c.666G>C (p.Thr222=)
c.1761G>C (p.Thr587=)
c.1476G>C (p.Thr492=)
c.258G>C (p.Thr86=)
n.706G>C
gnomAD v3 gnomAD v4
17g.63488670G=CA2269945938ACEc.2328G= (p.Thr776=)
c.606G= (p.Thr202=)
c.*398G= (n.*398G=)
c.587G= (n.587G=)
c.*57G= (n.*57G=)
c.*248G= (n.*248G=)
c.96G= (p.Thr32=)
n.274G=
c.1779G= (p.Thr593=)
c.666G= (p.Thr222=)
c.1761G= (p.Thr587=)
c.1476G= (p.Thr492=)
c.258G= (p.Thr86=)
n.706G=
17g.63488670G>TCA501186763ACEc.2328G>T (p.Thr776=)
c.606G>T (p.Thr202=)
c.*398G>T (n.*398G>T)
c.587G>T (n.587G>T)
c.*57G>T (n.*57G>T)
c.*248G>T (n.*248G>T)
c.96G>T (p.Thr32=)
n.274G>T
c.1779G>T (p.Thr593=)
c.666G>T (p.Thr222=)
c.1761G>T (p.Thr587=)
c.1476G>T (p.Thr492=)
c.258G>T (p.Thr86=)
n.706G>T
gnomAD v4
17g.63488671T>ACA400557833ACEc.2329T>A (p.Ser777Thr)
c.607T>A (p.Ser203Thr)
c.*399T>A (n.*399T>A)
c.588T>A (n.588T>A)
c.*58T>A (n.*58T>A)
c.*249T>A (n.*249T>A)
c.97T>A (p.Ser33Thr)
n.275T>A
c.1780T>A (p.Ser594Thr)
c.667T>A (p.Ser223Thr)
c.1762T>A (p.Ser588Thr)
c.1477T>A (p.Ser493Thr)
c.259T>A (p.Ser87Thr)
n.707T>A
17g.63488671T>CCA400557831ACEc.2329T>C (p.Ser777Pro)
c.607T>C (p.Ser203Pro)
c.*399T>C (n.*399T>C)
c.588T>C (n.588T>C)
c.*58T>C (n.*58T>C)
c.*249T>C (n.*249T>C)
c.97T>C (p.Ser33Pro)
n.275T>C
c.1780T>C (p.Ser594Pro)
c.667T>C (p.Ser223Pro)
c.1762T>C (p.Ser588Pro)
c.1477T>C (p.Ser493Pro)
c.259T>C (p.Ser87Pro)
n.707T>C
17g.63488671T>GCA400557832ACEc.2329T>G (p.Ser777Ala)
c.607T>G (p.Ser203Ala)
c.*399T>G (n.*399T>G)
c.588T>G (n.588T>G)
c.*58T>G (n.*58T>G)
c.*249T>G (n.*249T>G)
c.97T>G (p.Ser33Ala)
n.275T>G
c.1780T>G (p.Ser594Ala)
c.667T>G (p.Ser223Ala)
c.1762T>G (p.Ser588Ala)
c.1477T>G (p.Ser493Ala)
c.259T>G (p.Ser87Ala)
n.707T>G
17g.63488672C>ACA400557834ACEc.2330C>A (p.Ser777Tyr)
c.608C>A (p.Ser203Tyr)
c.*400C>A (n.*400C>A)
c.589C>A (n.589C>A)
c.*59C>A (n.*59C>A)
c.*250C>A (n.*250C>A)
c.98C>A (p.Ser33Tyr)
n.276C>A
c.1781C>A (p.Ser594Tyr)
c.668C>A (p.Ser223Tyr)
c.1763C>A (p.Ser588Tyr)
c.1478C>A (p.Ser493Tyr)
c.260C>A (p.Ser87Tyr)
n.708C>A
17g.63488672C>GCA400557835ACEc.2330C>G (p.Ser777Cys)
c.608C>G (p.Ser203Cys)
c.*400C>G (n.*400C>G)
c.589C>G (n.589C>G)
c.*59C>G (n.*59C>G)
c.*250C>G (n.*250C>G)
c.98C>G (p.Ser33Cys)
n.276C>G
c.1781C>G (p.Ser594Cys)
c.668C>G (p.Ser223Cys)
c.1763C>G (p.Ser588Cys)
c.1478C>G (p.Ser493Cys)
c.260C>G (p.Ser87Cys)
n.708C>G
17g.63488672C>TCA400557836ACEc.2330C>T (p.Ser777Phe)
c.608C>T (p.Ser203Phe)
c.*400C>T (n.*400C>T)
c.589C>T (n.589C>T)
c.*59C>T (n.*59C>T)
c.*250C>T (n.*250C>T)
c.98C>T (p.Ser33Phe)
n.276C>T
c.1781C>T (p.Ser594Phe)
c.668C>T (p.Ser223Phe)
c.1763C>T (p.Ser588Phe)
c.1478C>T (p.Ser493Phe)
c.260C>T (p.Ser87Phe)
n.708C>T
17g.63488673C>ACA501186775ACEc.2331C>A (p.Ser777=)
c.609C>A (p.Ser203=)
c.*401C>A (n.*401C>A)
c.590C>A (n.590C>A)
c.*60C>A (n.*60C>A)
c.*251C>A (n.*251C>A)
c.99C>A (p.Ser33=)
n.277C>A
c.1782C>A (p.Ser594=)
c.669C>A (p.Ser223=)
c.1764C>A (p.Ser588=)
c.1479C>A (p.Ser493=)
c.261C>A (p.Ser87=)
n.709C>A
17g.63488673C>GCA501186777ACEc.2331C>G (p.Ser777=)
c.609C>G (p.Ser203=)
c.*401C>G (n.*401C>G)
c.590C>G (n.590C>G)
c.*60C>G (n.*60C>G)
c.*251C>G (n.*251C>G)
c.99C>G (p.Ser33=)
n.277C>G
c.1782C>G (p.Ser594=)
c.669C>G (p.Ser223=)
c.1764C>G (p.Ser588=)
c.1479C>G (p.Ser493=)
c.261C>G (p.Ser87=)
n.709C>G
17g.63488673C>TCA501186779ACEc.2331C>T (p.Ser777=)
c.609C>T (p.Ser203=)
c.*401C>T (n.*401C>T)
c.590C>T (n.590C>T)
c.*60C>T (n.*60C>T)
c.*251C>T (n.*251C>T)
c.99C>T (p.Ser33=)
n.277C>T
c.1782C>T (p.Ser594=)
c.669C>T (p.Ser223=)
c.1764C>T (p.Ser588=)
c.1479C>T (p.Ser493=)
c.261C>T (p.Ser87=)
n.709C>T
17g.63488674C>ACA501186782ACEc.2332C>A (p.Arg778=)
c.610C>A (p.Arg204=)
c.*402C>A (n.*402C>A)
c.591C>A (n.591C>A)
c.*61C>A (n.*61C>A)
c.*252C>A (n.*252C>A)
c.100C>A (p.Arg34=)
n.278C>A
c.1783C>A (p.Arg595=)
c.670C>A (p.Arg224=)
c.1765C>A (p.Arg589=)
c.1480C>A (p.Arg494=)
c.262C>A (p.Arg88=)
n.710C>A
dbSNP gnomAD v2 gnomAD v4
17g.63488674C=CA2269945939ACEc.2332C= (p.Arg778=)
c.610C= (p.Arg204=)
c.*402C= (n.*402C=)
c.591C= (n.591C=)
c.*61C= (n.*61C=)
c.*252C= (n.*252C=)
c.100C= (p.Arg34=)
n.278C=
c.1783C= (p.Arg595=)
c.670C= (p.Arg224=)
c.1765C= (p.Arg589=)
c.1480C= (p.Arg494=)
c.262C= (p.Arg88=)
n.710C=
17g.63488674C>GCA400557837ACEc.2332C>G (p.Arg778Gly)
c.610C>G (p.Arg204Gly)
c.*402C>G (n.*402C>G)
c.591C>G (n.591C>G)
c.*61C>G (n.*61C>G)
c.*252C>G (n.*252C>G)
c.100C>G (p.Arg34Gly)
n.278C>G
c.1783C>G (p.Arg595Gly)
c.670C>G (p.Arg224Gly)
c.1765C>G (p.Arg589Gly)
c.1480C>G (p.Arg494Gly)
c.262C>G (p.Arg88Gly)
n.710C>G
17g.63488674C>TCA8700064ACEc.2332C>T (p.Arg778Trp)
c.610C>T (p.Arg204Trp)
c.*402C>T (n.*402C>T)
c.591C>T (n.591C>T)
c.*61C>T (n.*61C>T)
c.*252C>T (n.*252C>T)
c.100C>T (p.Arg34Trp)
n.278C>T
c.1783C>T (p.Arg595Trp)
c.670C>T (p.Arg224Trp)
c.1765C>T (p.Arg589Trp)
c.1480C>T (p.Arg494Trp)
c.262C>T (p.Arg88Trp)
n.710C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488674_63488675insACA985411642ACEc.2332_2333insA (p.Arg778GlnfsTer4)
c.610_611insA (p.Arg204GlnfsTer4)
c.*402_*403insA (n.*402_*403insA)
c.591_592insA (n.591_592insA)
c.*61_*62insA (n.*61_*62insA)
c.*252_*253insA (n.*252_*253insA)
c.100_101insA (p.Arg34GlnfsTer4)
n.278_279insA
c.1783_1784insA (p.Arg595GlnfsTer4)
c.670_671insA (p.Arg224GlnfsTer4)
c.1765_1766insA (p.Arg589GlnfsTer4)
c.1480_1481insA (p.Arg494GlnfsTer4)
c.262_263insA (p.Arg88GlnfsTer4)
n.710_711insA
gnomAD v3 gnomAD v4
17g.63488675G>ACA8700065ACEc.2333G>A (p.Arg778Gln)
c.611G>A (p.Arg204Gln)
c.*403G>A (n.*403G>A)
c.592G>A (n.592G>A)
c.*62G>A (n.*62G>A)
c.*253G>A (n.*253G>A)
c.101G>A (p.Arg34Gln)
n.279G>A
c.1784G>A (p.Arg595Gln)
c.671G>A (p.Arg224Gln)
c.1766G>A (p.Arg589Gln)
c.1481G>A (p.Arg494Gln)
c.263G>A (p.Arg88Gln)
n.711G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
17g.63488675G>CCA400557839ACEc.2333G>C (p.Arg778Pro)
c.611G>C (p.Arg204Pro)
c.*403G>C (n.*403G>C)
c.592G>C (n.592G>C)
c.*62G>C (n.*62G>C)
c.*253G>C (n.*253G>C)
c.101G>C (p.Arg34Pro)
n.279G>C
c.1784G>C (p.Arg595Pro)
c.671G>C (p.Arg224Pro)
c.1766G>C (p.Arg589Pro)
c.1481G>C (p.Arg494Pro)
c.263G>C (p.Arg88Pro)
n.711G>C
gnomAD v4
17g.63488675G=CA2269945940ACEc.2333G= (p.Arg778=)
c.611G= (p.Arg204=)
c.*403G= (n.*403G=)
c.592G= (n.592G=)
c.*62G= (n.*62G=)
c.*253G= (n.*253G=)
c.101G= (p.Arg34=)
n.279G=
c.1784G= (p.Arg595=)
c.671G= (p.Arg224=)
c.1766G= (p.Arg589=)
c.1481G= (p.Arg494=)
c.263G= (p.Arg88=)
n.711G=
17g.63488675G>TCA400557838ACEc.2333G>T (p.Arg778Leu)
c.611G>T (p.Arg204Leu)
c.*403G>T (n.*403G>T)
c.592G>T (n.592G>T)
c.*62G>T (n.*62G>T)
c.*253G>T (n.*253G>T)
c.101G>T (p.Arg34Leu)
n.279G>T
c.1784G>T (p.Arg595Leu)
c.671G>T (p.Arg224Leu)
c.1766G>T (p.Arg589Leu)
c.1481G>T (p.Arg494Leu)
c.263G>T (p.Arg88Leu)
n.711G>T
17g.63488676G>ACA501186793ACEc.2334G>A (p.Arg778=)
c.612G>A (p.Arg204=)
c.*404G>A (n.*404G>A)
c.593G>A (n.593G>A)
c.*63G>A (n.*63G>A)
c.*254G>A (n.*254G>A)
c.102G>A (p.Arg34=)
n.280G>A
c.1785G>A (p.Arg595=)
c.672G>A (p.Arg224=)
c.1767G>A (p.Arg589=)
c.1482G>A (p.Arg494=)
c.264G>A (p.Arg88=)
n.712G>A
17g.63488676G>CCA501186795ACEc.2334G>C (p.Arg778=)
c.612G>C (p.Arg204=)
c.*404G>C (n.*404G>C)
c.593G>C (n.593G>C)
c.*63G>C (n.*63G>C)
c.*254G>C (n.*254G>C)
c.102G>C (p.Arg34=)
n.280G>C
c.1785G>C (p.Arg595=)
c.672G>C (p.Arg224=)
c.1767G>C (p.Arg589=)
c.1482G>C (p.Arg494=)
c.264G>C (p.Arg88=)
n.712G>C
17g.63488676G>TCA501186798ACEc.2334G>T (p.Arg778=)
c.612G>T (p.Arg204=)
c.*404G>T (n.*404G>T)
c.593G>T (n.593G>T)
c.*63G>T (n.*63G>T)
c.*254G>T (n.*254G>T)
c.102G>T (p.Arg34=)
n.280G>T
c.1785G>T (p.Arg595=)
c.672G>T (p.Arg224=)
c.1767G>T (p.Arg589=)
c.1482G>T (p.Arg494=)
c.264G>T (p.Arg88=)
n.712G>T
17g.63488677A>CCA400557840ACEc.2335A>C (p.Lys779Gln)
c.613A>C (p.Lys205Gln)
c.*405A>C (n.*405A>C)
c.594A>C (n.594A>C)
c.*64A>C (n.*64A>C)
c.*255A>C (n.*255A>C)
c.103A>C (p.Lys35Gln)
n.281A>C
c.1786A>C (p.Lys596Gln)
c.673A>C (p.Lys225Gln)
c.1768A>C (p.Lys590Gln)
c.1483A>C (p.Lys495Gln)
c.265A>C (p.Lys89Gln)
n.713A>C
17g.63488677A>GCA400557841ACEc.2335A>G (p.Lys779Glu)
c.613A>G (p.Lys205Glu)
c.*405A>G (n.*405A>G)
c.594A>G (n.594A>G)
c.*64A>G (n.*64A>G)
c.*255A>G (n.*255A>G)
c.103A>G (p.Lys35Glu)
n.281A>G
c.1786A>G (p.Lys596Glu)
c.673A>G (p.Lys225Glu)
c.1768A>G (p.Lys590Glu)
c.1483A>G (p.Lys495Glu)
c.265A>G (p.Lys89Glu)
n.713A>G
17g.63488677A>TCA400557842ACEc.2335A>T (p.Lys779Ter)
c.613A>T (p.Lys205Ter)
c.*405A>T (n.*405A>T)
c.594A>T (n.594A>T)
c.*64A>T (n.*64A>T)
c.*255A>T (n.*255A>T)
c.103A>T (p.Lys35Ter)
n.281A>T
c.1786A>T (p.Lys596Ter)
c.673A>T (p.Lys225Ter)
c.1768A>T (p.Lys590Ter)
c.1483A>T (p.Lys495Ter)
c.265A>T (p.Lys89Ter)
n.713A>T
gnomAD v4
17g.63488677_63488688delCA985411674ACEc.2335_2346del (p.Lys779_Asp782del)
c.613_624del (p.Lys205_Asp208del)
c.*405_*416del (n.*405_*416del)
c.594_605del (n.594_605del)
c.*64_*75del (n.*64_*75del)
c.*255_*266del (n.*255_*266del)
c.103_114del (p.Lys35_Asp38del)
n.281_292del
c.1786_1797del (p.Lys596_Asp599del)
c.673_684del (p.Lys225_Asp228del)
c.1768_1779del (p.Lys590_Asp593del)
c.1483_1494del (p.Lys495_Asp498del)
c.265_276del (p.Lys89_Asp92del)
n.713_724del
gnomAD v3 gnomAD v4
17g.63488678A>CCA400557843ACEc.2336A>C (p.Lys779Thr)
c.614A>C (p.Lys205Thr)
c.*406A>C (n.*406A>C)
c.595A>C (n.595A>C)
c.*65A>C (n.*65A>C)
c.*256A>C (n.*256A>C)
c.104A>C (p.Lys35Thr)
n.282A>C
c.1787A>C (p.Lys596Thr)
c.674A>C (p.Lys225Thr)
c.1769A>C (p.Lys590Thr)
c.1484A>C (p.Lys495Thr)
c.266A>C (p.Lys89Thr)
n.714A>C
17g.63488678A>GCA400557844ACEc.2336A>G (p.Lys779Arg)
c.614A>G (p.Lys205Arg)
c.*406A>G (n.*406A>G)
c.595A>G (n.595A>G)
c.*65A>G (n.*65A>G)
c.*256A>G (n.*256A>G)
c.104A>G (p.Lys35Arg)
n.282A>G
c.1787A>G (p.Lys596Arg)
c.674A>G (p.Lys225Arg)
c.1769A>G (p.Lys590Arg)
c.1484A>G (p.Lys495Arg)
c.266A>G (p.Lys89Arg)
n.714A>G
17g.63488678A>TCA400557845ACEc.2336A>T (p.Lys779Ile)
c.614A>T (p.Lys205Ile)
c.*406A>T (n.*406A>T)
c.595A>T (n.595A>T)
c.*65A>T (n.*65A>T)
c.*256A>T (n.*256A>T)
c.104A>T (p.Lys35Ile)
n.282A>T
c.1787A>T (p.Lys596Ile)
c.674A>T (p.Lys225Ile)
c.1769A>T (p.Lys590Ile)
c.1484A>T (p.Lys495Ile)
c.266A>T (p.Lys89Ile)
n.714A>T
17g.63488679A>CCA400557846ACEc.2337A>C (p.Lys779Asn)
c.615A>C (p.Lys205Asn)
c.*407A>C (n.*407A>C)
c.596A>C (n.596A>C)
c.*66A>C (n.*66A>C)
c.*257A>C (n.*257A>C)
c.105A>C (p.Lys35Asn)
n.283A>C
c.1788A>C (p.Lys596Asn)
c.675A>C (p.Lys225Asn)
c.1770A>C (p.Lys590Asn)
c.1485A>C (p.Lys495Asn)
c.267A>C (p.Lys89Asn)
n.715A>C
17g.63488679A>GCA501186810ACEc.2337A>G (p.Lys779=)
c.615A>G (p.Lys205=)
c.*407A>G (n.*407A>G)
c.596A>G (n.596A>G)
c.*66A>G (n.*66A>G)
c.*257A>G (n.*257A>G)
c.105A>G (p.Lys35=)
n.283A>G
c.1788A>G (p.Lys596=)
c.675A>G (p.Lys225=)
c.1770A>G (p.Lys590=)
c.1485A>G (p.Lys495=)
c.267A>G (p.Lys89=)
n.715A>G
17g.63488679A>TCA400557847ACEc.2337A>T (p.Lys779Asn)
c.615A>T (p.Lys205Asn)
c.*407A>T (n.*407A>T)
c.596A>T (n.596A>T)
c.*66A>T (n.*66A>T)
c.*257A>T (n.*257A>T)
c.105A>T (p.Lys35Asn)
n.283A>T
c.1788A>T (p.Lys596Asn)
c.675A>T (p.Lys225Asn)
c.1770A>T (p.Lys590Asn)
c.1485A>T (p.Lys495Asn)
c.267A>T (p.Lys89Asn)
n.715A>T
17g.63488680T>ACA400557848ACEc.2338T>A (p.Tyr780Asn)
c.616T>A (p.Tyr206Asn)
c.*408T>A (n.*408T>A)
c.597T>A (n.597T>A)
c.*67T>A (n.*67T>A)
c.*258T>A (n.*258T>A)
c.106T>A (p.Tyr36Asn)
n.284T>A
c.1789T>A (p.Tyr597Asn)
c.676T>A (p.Tyr226Asn)
c.1771T>A (p.Tyr591Asn)
c.1486T>A (p.Tyr496Asn)
c.268T>A (p.Tyr90Asn)
n.716T>A
17g.63488680T>CCA400557849ACEc.2338T>C (p.Tyr780His)
c.616T>C (p.Tyr206His)
c.*408T>C (n.*408T>C)
c.597T>C (n.597T>C)
c.*67T>C (n.*67T>C)
c.*258T>C (n.*258T>C)
c.106T>C (p.Tyr36His)
n.284T>C
c.1789T>C (p.Tyr597His)
c.676T>C (p.Tyr226His)
c.1771T>C (p.Tyr591His)
c.1486T>C (p.Tyr496His)
c.268T>C (p.Tyr90His)
n.716T>C
gnomAD v4
17g.63488680T>GCA400557850ACEc.2338T>G (p.Tyr780Asp)
c.616T>G (p.Tyr206Asp)
c.*408T>G (n.*408T>G)
c.597T>G (n.597T>G)
c.*67T>G (n.*67T>G)
c.*258T>G (n.*258T>G)
c.106T>G (p.Tyr36Asp)
n.284T>G
c.1789T>G (p.Tyr597Asp)
c.676T>G (p.Tyr226Asp)
c.1771T>G (p.Tyr591Asp)
c.1486T>G (p.Tyr496Asp)
c.268T>G (p.Tyr90Asp)
n.716T>G
17g.63488681A>CCA400557851ACEc.2339A>C (p.Tyr780Ser)
c.617A>C (p.Tyr206Ser)
c.*409A>C (n.*409A>C)
c.598A>C (n.598A>C)
c.*68A>C (n.*68A>C)
c.*259A>C (n.*259A>C)
c.107A>C (p.Tyr36Ser)
n.285A>C
c.1790A>C (p.Tyr597Ser)
c.677A>C (p.Tyr226Ser)
c.1772A>C (p.Tyr591Ser)
c.1487A>C (p.Tyr496Ser)
c.269A>C (p.Tyr90Ser)
n.717A>C
17g.63488681A>GCA400557853ACEc.2339A>G (p.Tyr780Cys)
c.617A>G (p.Tyr206Cys)
c.*409A>G (n.*409A>G)
c.598A>G (n.598A>G)
c.*68A>G (n.*68A>G)
c.*259A>G (n.*259A>G)
c.107A>G (p.Tyr36Cys)
n.285A>G
c.1790A>G (p.Tyr597Cys)
c.677A>G (p.Tyr226Cys)
c.1772A>G (p.Tyr591Cys)
c.1487A>G (p.Tyr496Cys)
c.269A>G (p.Tyr90Cys)
n.717A>G
gnomAD v4
17g.63488681A>TCA400557852ACEc.2339A>T (p.Tyr780Phe)
c.617A>T (p.Tyr206Phe)
c.*409A>T (n.*409A>T)
c.598A>T (n.598A>T)
c.*68A>T (n.*68A>T)
c.*259A>T (n.*259A>T)
c.107A>T (p.Tyr36Phe)
n.285A>T
c.1790A>T (p.Tyr597Phe)
c.677A>T (p.Tyr226Phe)
c.1772A>T (p.Tyr591Phe)
c.1487A>T (p.Tyr496Phe)
c.269A>T (p.Tyr90Phe)
n.717A>T
17g.63488682T>ACA400557854ACEc.2340T>A (p.Tyr780Ter)
c.618T>A (p.Tyr206Ter)
c.*410T>A (n.*410T>A)
c.599T>A (n.599T>A)
c.*69T>A (n.*69T>A)
c.*260T>A (n.*260T>A)
c.108T>A (p.Tyr36Ter)
n.286T>A
c.1791T>A (p.Tyr597Ter)
c.678T>A (p.Tyr226Ter)
c.1773T>A (p.Tyr591Ter)
c.1488T>A (p.Tyr496Ter)
c.270T>A (p.Tyr90Ter)
n.718T>A
17g.63488682T>CCA8700066ACEc.2340T>C (p.Tyr780=)
c.618T>C (p.Tyr206=)
c.*410T>C (n.*410T>C)
c.599T>C (n.599T>C)
c.*69T>C (n.*69T>C)
c.*260T>C (n.*260T>C)
c.108T>C (p.Tyr36=)
n.286T>C
c.1791T>C (p.Tyr597=)
c.678T>C (p.Tyr226=)
c.1773T>C (p.Tyr591=)
c.1488T>C (p.Tyr496=)
c.270T>C (p.Tyr90=)
n.718T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488682T>GCA400557855ACEc.2340T>G (p.Tyr780Ter)
c.618T>G (p.Tyr206Ter)
c.*410T>G (n.*410T>G)
c.599T>G (n.599T>G)
c.*69T>G (n.*69T>G)
c.*260T>G (n.*260T>G)
c.108T>G (p.Tyr36Ter)
n.286T>G
c.1791T>G (p.Tyr597Ter)
c.678T>G (p.Tyr226Ter)
c.1773T>G (p.Tyr591Ter)
c.1488T>G (p.Tyr496Ter)
c.270T>G (p.Tyr90Ter)
n.718T>G
17g.63488682T=CA2269945941ACEc.2340T= (p.Tyr780=)
c.618T= (p.Tyr206=)
c.*410T= (n.*410T=)
c.599T= (n.599T=)
c.*69T= (n.*69T=)
c.*260T= (n.*260T=)
c.108T= (p.Tyr36=)
n.286T=
c.1791T= (p.Tyr597=)
c.678T= (p.Tyr226=)
c.1773T= (p.Tyr591=)
c.1488T= (p.Tyr496=)
c.270T= (p.Tyr90=)
n.718T=
17g.63488683G>ACA400557856ACEc.2341G>A (p.Glu781Lys)
c.619G>A (p.Glu207Lys)
c.*411G>A (n.*411G>A)
c.600G>A (n.600G>A)
c.*70G>A (n.*70G>A)
c.*261G>A (n.*261G>A)
c.109G>A (p.Glu37Lys)
n.287G>A
c.1792G>A (p.Glu598Lys)
c.679G>A (p.Glu227Lys)
c.1774G>A (p.Glu592Lys)
c.1489G>A (p.Glu497Lys)
c.271G>A (p.Glu91Lys)
n.719G>A
gnomAD v4
17g.63488683G>CCA400557857ACEc.2341G>C (p.Glu781Gln)
c.619G>C (p.Glu207Gln)
c.*411G>C (n.*411G>C)
c.600G>C (n.600G>C)
c.*70G>C (n.*70G>C)
c.*261G>C (n.*261G>C)
c.109G>C (p.Glu37Gln)
n.287G>C
c.1792G>C (p.Glu598Gln)
c.679G>C (p.Glu227Gln)
c.1774G>C (p.Glu592Gln)
c.1489G>C (p.Glu497Gln)
c.271G>C (p.Glu91Gln)
n.719G>C
17g.63488683G>TCA400557858ACEc.2341G>T (p.Glu781Ter)
c.619G>T (p.Glu207Ter)
c.*411G>T (n.*411G>T)
c.600G>T (n.600G>T)
c.*70G>T (n.*70G>T)
c.*261G>T (n.*261G>T)
c.109G>T (p.Glu37Ter)
n.287G>T
c.1792G>T (p.Glu598Ter)
c.679G>T (p.Glu227Ter)
c.1774G>T (p.Glu592Ter)
c.1489G>T (p.Glu497Ter)
c.271G>T (p.Glu91Ter)
n.719G>T
17g.63488683_63488687delinsGAAGACA2269945942ACEc.2341_2345delinsGAAGA (p.Glu781=)
c.619_623delinsGAAGA (p.Glu207=)
c.*411_*415delinsGAAGA (n.*411_*415delinsGAAGA)
c.600_604delinsGAAGA (n.600_604delinsGAAGA)
c.*70_*74delinsGAAGA (n.*70_*74delinsGAAGA)
c.*261_*265delinsGAAGA (n.*261_*265delinsGAAGA)
c.109_113delinsGAAGA (p.Glu37=)
n.287_291delinsGAAGA
c.1792_1796delinsGAAGA (p.Glu598=)
c.679_683delinsGAAGA (p.Glu227=)
c.1774_1778delinsGAAGA (p.Glu592=)
c.1489_1493delinsGAAGA (p.Glu497=)
c.271_275delinsGAAGA (p.Glu91=)
n.719_723delinsGAAGA
17g.63488684A>CCA400557859ACEc.2342A>C (p.Glu781Ala)
c.620A>C (p.Glu207Ala)
c.*412A>C (n.*412A>C)
c.601A>C (n.601A>C)
c.*71A>C (n.*71A>C)
c.*262A>C (n.*262A>C)
c.110A>C (p.Glu37Ala)
n.288A>C
c.1793A>C (p.Glu598Ala)
c.680A>C (p.Glu227Ala)
c.1775A>C (p.Glu592Ala)
c.1490A>C (p.Glu497Ala)
c.272A>C (p.Glu91Ala)
n.720A>C
17g.63488684A>GCA400557860ACEc.2342A>G (p.Glu781Gly)
c.620A>G (p.Glu207Gly)
c.*412A>G (n.*412A>G)
c.601A>G (n.601A>G)
c.*71A>G (n.*71A>G)
c.*262A>G (n.*262A>G)
c.110A>G (p.Glu37Gly)
n.288A>G
c.1793A>G (p.Glu598Gly)
c.680A>G (p.Glu227Gly)
c.1775A>G (p.Glu592Gly)
c.1490A>G (p.Glu497Gly)
c.272A>G (p.Glu91Gly)
n.720A>G
17g.63488684A>TCA400557861ACEc.2342A>T (p.Glu781Val)
c.620A>T (p.Glu207Val)
c.*412A>T (n.*412A>T)
c.601A>T (n.601A>T)
c.*71A>T (n.*71A>T)
c.*262A>T (n.*262A>T)
c.110A>T (p.Glu37Val)
n.288A>T
c.1793A>T (p.Glu598Val)
c.680A>T (p.Glu227Val)
c.1775A>T (p.Glu592Val)
c.1490A>T (p.Glu497Val)
c.272A>T (p.Glu91Val)
n.720A>T
17g.63488684_63488687delCA2269945943ACEc.2342_2345del (p.Glu781AlafsTer?)
c.620_623del (p.Glu207AlafsTer?)
c.*412_*415del (n.*412_*415del)
c.601_604del (n.601_604del)
c.*71_*74del (n.*71_*74del)
c.*262_*265del (n.*262_*265del)
c.110_113del (p.Glu37AlafsTer?)
n.288_291del
c.1793_1796del (p.Glu598AlafsTer?)
c.680_683del (p.Glu227AlafsTer?)
c.1775_1778del (p.Glu592AlafsTer?)
c.1490_1493del (p.Glu497AlafsTer?)
c.272_275del (p.Glu91AlafsTer?)
n.720_723del
dbSNP gnomAD v4
17g.63488685A>CCA400557862ACEc.2343A>C (p.Glu781Asp)
c.621A>C (p.Glu207Asp)
c.*413A>C (n.*413A>C)
c.602A>C (n.602A>C)
c.*72A>C (n.*72A>C)
c.*263A>C (n.*263A>C)
c.111A>C (p.Glu37Asp)
n.289A>C
c.1794A>C (p.Glu598Asp)
c.681A>C (p.Glu227Asp)
c.1776A>C (p.Glu592Asp)
c.1491A>C (p.Glu497Asp)
c.273A>C (p.Glu91Asp)
n.721A>C
gnomAD v4
17g.63488685A>GCA501186835ACEc.2343A>G (p.Glu781=)
c.621A>G (p.Glu207=)
c.*413A>G (n.*413A>G)
c.602A>G (n.602A>G)
c.*72A>G (n.*72A>G)
c.*263A>G (n.*263A>G)
c.111A>G (p.Glu37=)
n.289A>G
c.1794A>G (p.Glu598=)
c.681A>G (p.Glu227=)
c.1776A>G (p.Glu592=)
c.1491A>G (p.Glu497=)
c.273A>G (p.Glu91=)
n.721A>G
17g.63488685A>TCA400557863ACEc.2343A>T (p.Glu781Asp)
c.621A>T (p.Glu207Asp)
c.*413A>T (n.*413A>T)
c.602A>T (n.602A>T)
c.*72A>T (n.*72A>T)
c.*263A>T (n.*263A>T)
c.111A>T (p.Glu37Asp)
n.289A>T
c.1794A>T (p.Glu598Asp)
c.681A>T (p.Glu227Asp)
c.1776A>T (p.Glu592Asp)
c.1491A>T (p.Glu497Asp)
c.273A>T (p.Glu91Asp)
n.721A>T
17g.63488686G>ACA400557866ACEc.2344G>A (p.Asp782Asn)
c.622G>A (p.Asp208Asn)
c.*414G>A (n.*414G>A)
c.603G>A (n.603G>A)
c.*73G>A (n.*73G>A)
c.*264G>A (n.*264G>A)
c.112G>A (p.Asp38Asn)
n.290G>A
c.1795G>A (p.Asp599Asn)
c.682G>A (p.Asp228Asn)
c.1777G>A (p.Asp593Asn)
c.1492G>A (p.Asp498Asn)
c.274G>A (p.Asp92Asn)
n.722G>A
17g.63488686G>CCA400557865ACEc.2344G>C (p.Asp782His)
c.622G>C (p.Asp208His)
c.*414G>C (n.*414G>C)
c.603G>C (n.603G>C)
c.*73G>C (n.*73G>C)
c.*264G>C (n.*264G>C)
c.112G>C (p.Asp38His)
n.290G>C
c.1795G>C (p.Asp599His)
c.682G>C (p.Asp228His)
c.1777G>C (p.Asp593His)
c.1492G>C (p.Asp498His)
c.274G>C (p.Asp92His)
n.722G>C
gnomAD v4
17g.63488686G>TCA400557864ACEc.2344G>T (p.Asp782Tyr)
c.622G>T (p.Asp208Tyr)
c.*414G>T (n.*414G>T)
c.603G>T (n.603G>T)
c.*73G>T (n.*73G>T)
c.*264G>T (n.*264G>T)
c.112G>T (p.Asp38Tyr)
n.290G>T
c.1795G>T (p.Asp599Tyr)
c.682G>T (p.Asp228Tyr)
c.1777G>T (p.Asp593Tyr)
c.1492G>T (p.Asp498Tyr)
c.274G>T (p.Asp92Tyr)
n.722G>T
17g.63488687A>CCA400557867ACEc.2345A>C (p.Asp782Ala)
c.623A>C (p.Asp208Ala)
c.*415A>C (n.*415A>C)
c.604A>C (n.604A>C)
c.*74A>C (n.*74A>C)
c.*265A>C (n.*265A>C)
c.113A>C (p.Asp38Ala)
n.291A>C
c.1796A>C (p.Asp599Ala)
c.683A>C (p.Asp228Ala)
c.1778A>C (p.Asp593Ala)
c.1493A>C (p.Asp498Ala)
c.275A>C (p.Asp92Ala)
n.723A>C
17g.63488687A>GCA400557868ACEc.2345A>G (p.Asp782Gly)
c.623A>G (p.Asp208Gly)
c.*415A>G (n.*415A>G)
c.604A>G (n.604A>G)
c.*74A>G (n.*74A>G)
c.*265A>G (n.*265A>G)
c.113A>G (p.Asp38Gly)
n.291A>G
c.1796A>G (p.Asp599Gly)
c.683A>G (p.Asp228Gly)
c.1778A>G (p.Asp593Gly)
c.1493A>G (p.Asp498Gly)
c.275A>G (p.Asp92Gly)
n.723A>G
17g.63488687A>TCA400557869ACEc.2345A>T (p.Asp782Val)
c.623A>T (p.Asp208Val)
c.*415A>T (n.*415A>T)
c.604A>T (n.604A>T)
c.*74A>T (n.*74A>T)
c.*265A>T (n.*265A>T)
c.113A>T (p.Asp38Val)
n.291A>T
c.1796A>T (p.Asp599Val)
c.683A>T (p.Asp228Val)
c.1778A>T (p.Asp593Val)
c.1493A>T (p.Asp498Val)
c.275A>T (p.Asp92Val)
n.723A>T
17g.63488688C>ACA8700067ACEc.2346C>A (p.Asp782Glu)
c.624C>A (p.Asp208Glu)
c.*416C>A (n.*416C>A)
c.605C>A (n.605C>A)
c.*75C>A (n.*75C>A)
c.*266C>A (n.*266C>A)
c.114C>A (p.Asp38Glu)
n.292C>A
c.1797C>A (p.Asp599Glu)
c.684C>A (p.Asp228Glu)
c.1779C>A (p.Asp593Glu)
c.1494C>A (p.Asp498Glu)
c.276C>A (p.Asp92Glu)
n.724C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488688C=CA2269945944ACEc.2346C= (p.Asp782=)
c.624C= (p.Asp208=)
c.*416C= (n.*416C=)
c.605C= (n.605C=)
c.*75C= (n.*75C=)
c.*266C= (n.*266C=)
c.114C= (p.Asp38=)
n.292C=
c.1797C= (p.Asp599=)
c.684C= (p.Asp228=)
c.1779C= (p.Asp593=)
c.1494C= (p.Asp498=)
c.276C= (p.Asp92=)
n.724C=
17g.63488688C>GCA400557870ACEc.2346C>G (p.Asp782Glu)
c.624C>G (p.Asp208Glu)
c.*416C>G (n.*416C>G)
c.605C>G (n.605C>G)
c.*75C>G (n.*75C>G)
c.*266C>G (n.*266C>G)
c.114C>G (p.Asp38Glu)
n.292C>G
c.1797C>G (p.Asp599Glu)
c.684C>G (p.Asp228Glu)
c.1779C>G (p.Asp593Glu)
c.1494C>G (p.Asp498Glu)
c.276C>G (p.Asp92Glu)
n.724C>G
17g.63488688C>TCA501186847ACEc.2346C>T (p.Asp782=)
c.624C>T (p.Asp208=)
c.*416C>T (n.*416C>T)
c.605C>T (n.605C>T)
c.*75C>T (n.*75C>T)
c.*266C>T (n.*266C>T)
c.114C>T (p.Asp38=)
n.292C>T
c.1797C>T (p.Asp599=)
c.684C>T (p.Asp228=)
c.1779C>T (p.Asp593=)
c.1494C>T (p.Asp498=)
c.276C>T (p.Asp92=)
n.724C>T
17g.63488689C>ACA400557871ACEc.2347C>A (p.Leu783Met)
c.625C>A (p.Leu209Met)
c.*417C>A (n.*417C>A)
c.606C>A (n.606C>A)
c.*76C>A (n.*76C>A)
c.*267C>A (n.*267C>A)
c.115C>A (p.Leu39Met)
n.293C>A
c.1798C>A (p.Leu600Met)
c.685C>A (p.Leu229Met)
c.1780C>A (p.Leu594Met)
c.1495C>A (p.Leu499Met)
c.277C>A (p.Leu93Met)
n.725C>A
17g.63488689C=CA2269945945ACEc.2347C= (p.Leu783=)
c.625C= (p.Leu209=)
c.*417C= (n.*417C=)
c.606C= (n.606C=)
c.*76C= (n.*76C=)
c.*267C= (n.*267C=)
c.115C= (p.Leu39=)
n.293C=
c.1798C= (p.Leu600=)
c.685C= (p.Leu229=)
c.1780C= (p.Leu594=)
c.1495C= (p.Leu499=)
c.277C= (p.Leu93=)
n.725C=
17g.63488689C>GCA400557872ACEc.2347C>G (p.Leu783Val)
c.625C>G (p.Leu209Val)
c.*417C>G (n.*417C>G)
c.606C>G (n.606C>G)
c.*76C>G (n.*76C>G)
c.*267C>G (n.*267C>G)
c.115C>G (p.Leu39Val)
n.293C>G
c.1798C>G (p.Leu600Val)
c.685C>G (p.Leu229Val)
c.1780C>G (p.Leu594Val)
c.1495C>G (p.Leu499Val)
c.277C>G (p.Leu93Val)
n.725C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488689C>TCA501186853ACEc.2347C>T (p.Leu783=)
c.625C>T (p.Leu209=)
c.*417C>T (n.*417C>T)
c.606C>T (n.606C>T)
c.*76C>T (n.*76C>T)
c.*267C>T (n.*267C>T)
c.115C>T (p.Leu39=)
n.293C>T
c.1798C>T (p.Leu600=)
c.685C>T (p.Leu229=)
c.1780C>T (p.Leu594=)
c.1495C>T (p.Leu499=)
c.277C>T (p.Leu93=)
n.725C>T
dbSNP gnomAD v2 gnomAD v4
17g.63488689_63488690insACA2269945946ACEc.2347_2348insA (p.Leu783HisfsTer?)
c.625_626insA (p.Leu209HisfsTer?)
c.*417_*418insA (n.*417_*418insA)
c.606_607insA (n.606_607insA)
c.*76_*77insA (n.*76_*77insA)
c.*267_*268insA (n.*267_*268insA)
c.115_116insA (p.Leu39HisfsTer?)
n.293_294insA
c.1798_1799insA (p.Leu600HisfsTer?)
c.685_686insA (p.Leu229HisfsTer?)
c.1780_1781insA (p.Leu594HisfsTer?)
c.1495_1496insA (p.Leu499HisfsTer?)
c.277_278insA (p.Leu93HisfsTer?)
n.725_726insA
dbSNP gnomAD v4
17g.63488690T>ACA400557873ACEc.2348T>A (p.Leu783Gln)
c.626T>A (p.Leu209Gln)
c.*418T>A (n.*418T>A)
c.607T>A (n.607T>A)
c.*77T>A (n.*77T>A)
c.*268T>A (n.*268T>A)
c.116T>A (p.Leu39Gln)
n.294T>A
c.1799T>A (p.Leu600Gln)
c.686T>A (p.Leu229Gln)
c.1781T>A (p.Leu594Gln)
c.1496T>A (p.Leu499Gln)
c.278T>A (p.Leu93Gln)
n.726T>A
17g.63488690T>CCA400557874ACEc.2348T>C (p.Leu783Pro)
c.626T>C (p.Leu209Pro)
c.*418T>C (n.*418T>C)
c.607T>C (n.607T>C)
c.*77T>C (n.*77T>C)
c.*268T>C (n.*268T>C)
c.116T>C (p.Leu39Pro)
n.294T>C
c.1799T>C (p.Leu600Pro)
c.686T>C (p.Leu229Pro)
c.1781T>C (p.Leu594Pro)
c.1496T>C (p.Leu499Pro)
c.278T>C (p.Leu93Pro)
n.726T>C
gnomAD v4
17g.63488690T>GCA400557875ACEc.2348T>G (p.Leu783Arg)
c.626T>G (p.Leu209Arg)
c.*418T>G (n.*418T>G)
c.607T>G (n.607T>G)
c.*77T>G (n.*77T>G)
c.*268T>G (n.*268T>G)
c.116T>G (p.Leu39Arg)
n.294T>G
c.1799T>G (p.Leu600Arg)
c.686T>G (p.Leu229Arg)
c.1781T>G (p.Leu594Arg)
c.1496T>G (p.Leu499Arg)
c.278T>G (p.Leu93Arg)
n.726T>G
17g.63488691delCA2639263698ACEc.2349del (p.Leu784TyrfsTer?)
c.627del (p.Leu210TyrfsTer?)
c.*419del (n.*419del)
c.608del (n.608del)
c.*78del (n.*78del)
c.*269del (n.*269del)
c.117del (p.Leu40TyrfsTer?)
n.295del
c.1800del (p.Leu601TyrfsTer?)
c.687del (p.Leu230TyrfsTer?)
c.1782del (p.Leu595TyrfsTer?)
c.1497del (p.Leu500TyrfsTer?)
c.279del (p.Leu94TyrfsTer?)
n.727del
gnomAD v4
17g.63488691G>ACA501186860ACEc.2349G>A (p.Leu783=)
c.627G>A (p.Leu209=)
c.*419G>A (n.*419G>A)
c.608G>A (n.608G>A)
c.*78G>A (n.*78G>A)
c.*269G>A (n.*269G>A)
c.117G>A (p.Leu39=)
n.295G>A
c.1800G>A (p.Leu600=)
c.687G>A (p.Leu229=)
c.1782G>A (p.Leu594=)
c.1497G>A (p.Leu499=)
c.279G>A (p.Leu93=)
n.727G>A
gnomAD v4
17g.63488691G>CCA501186862ACEc.2349G>C (p.Leu783=)
c.627G>C (p.Leu209=)
c.*419G>C (n.*419G>C)
c.608G>C (n.608G>C)
c.*78G>C (n.*78G>C)
c.*269G>C (n.*269G>C)
c.117G>C (p.Leu39=)
n.295G>C
c.1800G>C (p.Leu600=)
c.687G>C (p.Leu229=)
c.1782G>C (p.Leu594=)
c.1497G>C (p.Leu499=)
c.279G>C (p.Leu93=)
n.727G>C
17g.63488691G>TCA501186864ACEc.2349G>T (p.Leu783=)
c.627G>T (p.Leu209=)
c.*419G>T (n.*419G>T)
c.608G>T (n.608G>T)
c.*78G>T (n.*78G>T)
c.*269G>T (n.*269G>T)
c.117G>T (p.Leu39=)
n.295G>T
c.1800G>T (p.Leu600=)
c.687G>T (p.Leu229=)
c.1782G>T (p.Leu594=)
c.1497G>T (p.Leu499=)
c.279G>T (p.Leu93=)
n.727G>T
17g.63488691_63488692delinsGTCA2269945947ACEc.2349_2350delinsGT (p.Leu783=)
c.627_628delinsGT (p.Leu209=)
c.*419_*420delinsGT (n.*419_*420delinsGT)
c.608_609delinsGT (n.608_609delinsGT)
c.*78_*79delinsGT (n.*78_*79delinsGT)
c.*269_*270delinsGT (n.*269_*270delinsGT)
c.117_118delinsGT (p.Leu39=)
n.295_296delinsGT
c.1800_1801delinsGT (p.Leu600=)
c.687_688delinsGT (p.Leu229=)
c.1782_1783delinsGT (p.Leu594=)
c.1497_1498delinsGT (p.Leu499=)
c.279_280delinsGT (p.Leu93=)
n.727_728delinsGT
17g.63488692_63488703delCA985411686ACEc.2350_2361del (p.Leu784_Trp787del)
c.628_639del (p.Leu210_Trp213del)
c.*420_*431del (n.*420_*431del)
c.609_620del (n.609_620del)
c.*79_*90del (n.*79_*90del)
c.*270_*281del (n.*270_*281del)
c.118_129del (p.Leu40_Trp43del)
n.296_307del
c.1801_1812del (p.Leu601_Trp604del)
c.688_699del (p.Leu230_Trp233del)
c.1783_1794del (p.Leu595_Trp598del)
c.1498_1509del (p.Leu500_Trp503del)
c.280_291del (p.Leu94_Trp97del)
n.728_739del
gnomAD v3 gnomAD v4
17g.63488692T>ACA400557876ACEc.2350T>A (p.Leu784Ile)
c.628T>A (p.Leu210Ile)
c.*420T>A (n.*420T>A)
c.609T>A (n.609T>A)
c.*79T>A (n.*79T>A)
c.*270T>A (n.*270T>A)
c.118T>A (p.Leu40Ile)
n.296T>A
c.1801T>A (p.Leu601Ile)
c.688T>A (p.Leu230Ile)
c.1783T>A (p.Leu595Ile)
c.1498T>A (p.Leu500Ile)
c.280T>A (p.Leu94Ile)
n.728T>A
17g.63488692T>CCA501186868ACEc.2350T>C (p.Leu784=)
c.628T>C (p.Leu210=)
c.*420T>C (n.*420T>C)
c.609T>C (n.609T>C)
c.*79T>C (n.*79T>C)
c.*270T>C (n.*270T>C)
c.118T>C (p.Leu40=)
n.296T>C
c.1801T>C (p.Leu601=)
c.688T>C (p.Leu230=)
c.1783T>C (p.Leu595=)
c.1498T>C (p.Leu500=)
c.280T>C (p.Leu94=)
n.728T>C
17g.63488692T>GCA400557877ACEc.2350T>G (p.Leu784Val)
c.628T>G (p.Leu210Val)
c.*420T>G (n.*420T>G)
c.609T>G (n.609T>G)
c.*79T>G (n.*79T>G)
c.*270T>G (n.*270T>G)
c.118T>G (p.Leu40Val)
n.296T>G
c.1801T>G (p.Leu601Val)
c.688T>G (p.Leu230Val)
c.1783T>G (p.Leu595Val)
c.1498T>G (p.Leu500Val)
c.280T>G (p.Leu94Val)
n.728T>G
17g.63488693delCA627148294ACEc.2351del (p.Leu784TyrfsTer?)
c.629del (p.Leu210TyrfsTer?)
c.*421del (n.*421del)
c.610del (n.610del)
c.*80del (n.*80del)
c.*271del (n.*271del)
c.119del (p.Leu40TyrfsTer?)
n.297del
c.1802del (p.Leu601TyrfsTer?)
c.689del (p.Leu230TyrfsTer?)
c.1784del (p.Leu595TyrfsTer?)
c.1499del (p.Leu500TyrfsTer?)
c.281del (p.Leu94TyrfsTer?)
n.729del
dbSNP gnomAD v2 gnomAD v4
17g.63488693T>ACA400557880ACEc.2351T>A (p.Leu784Ter)
c.629T>A (p.Leu210Ter)
c.*421T>A (n.*421T>A)
c.610T>A (n.610T>A)
c.*80T>A (n.*80T>A)
c.*271T>A (n.*271T>A)
c.119T>A (p.Leu40Ter)
n.297T>A
c.1802T>A (p.Leu601Ter)
c.689T>A (p.Leu230Ter)
c.1784T>A (p.Leu595Ter)
c.1499T>A (p.Leu500Ter)
c.281T>A (p.Leu94Ter)
n.729T>A
17g.63488693T>CCA400557879ACEc.2351T>C (p.Leu784Ser)
c.629T>C (p.Leu210Ser)
c.*421T>C (n.*421T>C)
c.610T>C (n.610T>C)
c.*80T>C (n.*80T>C)
c.*271T>C (n.*271T>C)
c.119T>C (p.Leu40Ser)
n.297T>C
c.1802T>C (p.Leu601Ser)
c.689T>C (p.Leu230Ser)
c.1784T>C (p.Leu595Ser)
c.1499T>C (p.Leu500Ser)
c.281T>C (p.Leu94Ser)
n.729T>C
dbSNP gnomAD v2 gnomAD v4
17g.63488693T>GCA400557878ACEc.2351T>G (p.Leu784Ter)
c.629T>G (p.Leu210Ter)
c.*421T>G (n.*421T>G)
c.610T>G (n.610T>G)
c.*80T>G (n.*80T>G)
c.*271T>G (n.*271T>G)
c.119T>G (p.Leu40Ter)
n.297T>G
c.1802T>G (p.Leu601Ter)
c.689T>G (p.Leu230Ter)
c.1784T>G (p.Leu595Ter)
c.1499T>G (p.Leu500Ter)
c.281T>G (p.Leu94Ter)
n.729T>G
17g.63488693T=CA2269945948ACEc.2351T= (p.Leu784=)
c.629T= (p.Leu210=)
c.*421T= (n.*421T=)
c.610T= (n.610T=)
c.*80T= (n.*80T=)
c.*271T= (n.*271T=)
c.119T= (p.Leu40=)
n.297T=
c.1802T= (p.Leu601=)
c.689T= (p.Leu230=)
c.1784T= (p.Leu595=)
c.1499T= (p.Leu500=)
c.281T= (p.Leu94=)
n.729T=
17g.63488694A>CCA400557881ACEc.2352A>C (p.Leu784Phe)
c.630A>C (p.Leu210Phe)
c.*422A>C (n.*422A>C)
c.611A>C (n.611A>C)
c.*81A>C (n.*81A>C)
c.*272A>C (n.*272A>C)
c.120A>C (p.Leu40Phe)
n.298A>C
c.1803A>C (p.Leu601Phe)
c.690A>C (p.Leu230Phe)
c.1785A>C (p.Leu595Phe)
c.1500A>C (p.Leu500Phe)
c.282A>C (p.Leu94Phe)
n.730A>C
17g.63488694A>GCA501186876ACEc.2352A>G (p.Leu784=)
c.630A>G (p.Leu210=)
c.*422A>G (n.*422A>G)
c.611A>G (n.611A>G)
c.*81A>G (n.*81A>G)
c.*272A>G (n.*272A>G)
c.120A>G (p.Leu40=)
n.298A>G
c.1803A>G (p.Leu601=)
c.690A>G (p.Leu230=)
c.1785A>G (p.Leu595=)
c.1500A>G (p.Leu500=)
c.282A>G (p.Leu94=)
n.730A>G
17g.63488694A>TCA400557882ACEc.2352A>T (p.Leu784Phe)
c.630A>T (p.Leu210Phe)
c.*422A>T (n.*422A>T)
c.611A>T (n.611A>T)
c.*81A>T (n.*81A>T)
c.*272A>T (n.*272A>T)
c.120A>T (p.Leu40Phe)
n.298A>T
c.1803A>T (p.Leu601Phe)
c.690A>T (p.Leu230Phe)
c.1785A>T (p.Leu595Phe)
c.1500A>T (p.Leu500Phe)
c.282A>T (p.Leu94Phe)
n.730A>T
17g.63488695T>ACA400557883ACEc.2353T>A (p.Trp785Arg)
c.631T>A (p.Trp211Arg)
c.*423T>A (n.*423T>A)
c.612T>A (n.612T>A)
c.*82T>A (n.*82T>A)
c.*273T>A (n.*273T>A)
c.121T>A (p.Trp41Arg)
n.299T>A
c.1804T>A (p.Trp602Arg)
c.691T>A (p.Trp231Arg)
c.1786T>A (p.Trp596Arg)
c.1501T>A (p.Trp501Arg)
c.283T>A (p.Trp95Arg)
n.731T>A
gnomAD v4
17g.63488695T>CCA400557884ACEc.2353T>C (p.Trp785Arg)
c.631T>C (p.Trp211Arg)
c.*423T>C (n.*423T>C)
c.612T>C (n.612T>C)
c.*82T>C (n.*82T>C)
c.*273T>C (n.*273T>C)
c.121T>C (p.Trp41Arg)
n.299T>C
c.1804T>C (p.Trp602Arg)
c.691T>C (p.Trp231Arg)
c.1786T>C (p.Trp596Arg)
c.1501T>C (p.Trp501Arg)
c.283T>C (p.Trp95Arg)
n.731T>C
17g.63488695T>GCA8700068ACEc.2353T>G (p.Trp785Gly)
c.631T>G (p.Trp211Gly)
c.*423T>G (n.*423T>G)
c.612T>G (n.612T>G)
c.*82T>G (n.*82T>G)
c.*273T>G (n.*273T>G)
c.121T>G (p.Trp41Gly)
n.299T>G
c.1804T>G (p.Trp602Gly)
c.691T>G (p.Trp231Gly)
c.1786T>G (p.Trp596Gly)
c.1501T>G (p.Trp501Gly)
c.283T>G (p.Trp95Gly)
n.731T>G
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.63488695T=CA2269945949ACEc.2353T= (p.Trp785=)
c.631T= (p.Trp211=)
c.*423T= (n.*423T=)
c.612T= (n.612T=)
c.*82T= (n.*82T=)
c.*273T= (n.*273T=)
c.121T= (p.Trp41=)
n.299T=
c.1804T= (p.Trp602=)
c.691T= (p.Trp231=)
c.1786T= (p.Trp596=)
c.1501T= (p.Trp501=)
c.283T= (p.Trp95=)
n.731T=
17g.63488696G>ACA400557885ACEc.2354G>A (p.Trp785Ter)
c.632G>A (p.Trp211Ter)
c.*424G>A (n.*424G>A)
c.613G>A (n.613G>A)
c.*83G>A (n.*83G>A)
c.*274G>A (n.*274G>A)
c.122G>A (p.Trp41Ter)
n.300G>A
c.1805G>A (p.Trp602Ter)
c.692G>A (p.Trp231Ter)
c.1787G>A (p.Trp596Ter)
c.1502G>A (p.Trp501Ter)
c.284G>A (p.Trp95Ter)
n.732G>A
17g.63488696G>CCA400557886ACEc.2354G>C (p.Trp785Ser)
c.632G>C (p.Trp211Ser)
c.*424G>C (n.*424G>C)
c.613G>C (n.613G>C)
c.*83G>C (n.*83G>C)
c.*274G>C (n.*274G>C)
c.122G>C (p.Trp41Ser)
n.300G>C
c.1805G>C (p.Trp602Ser)
c.692G>C (p.Trp231Ser)
c.1787G>C (p.Trp596Ser)
c.1502G>C (p.Trp501Ser)
c.284G>C (p.Trp95Ser)
n.732G>C
17g.63488696G>TCA400557887ACEc.2354G>T (p.Trp785Leu)
c.632G>T (p.Trp211Leu)
c.*424G>T (n.*424G>T)
c.613G>T (n.613G>T)
c.*83G>T (n.*83G>T)
c.*274G>T (n.*274G>T)
c.122G>T (p.Trp41Leu)
n.300G>T
c.1805G>T (p.Trp602Leu)
c.692G>T (p.Trp231Leu)
c.1787G>T (p.Trp596Leu)
c.1502G>T (p.Trp501Leu)
c.284G>T (p.Trp95Leu)
n.732G>T
17g.63488697G>ACA400557888ACEc.2355G>A (p.Trp785Ter)
c.633G>A (p.Trp211Ter)
c.*425G>A (n.*425G>A)
c.614G>A (n.614G>A)
c.*84G>A (n.*84G>A)
c.*275G>A (n.*275G>A)
c.123G>A (p.Trp41Ter)
n.301G>A
c.1806G>A (p.Trp602Ter)
c.693G>A (p.Trp231Ter)
c.1788G>A (p.Trp596Ter)
c.1503G>A (p.Trp501Ter)
c.285G>A (p.Trp95Ter)
n.733G>A
17g.63488697G>CCA400557889ACEc.2355G>C (p.Trp785Cys)
c.633G>C (p.Trp211Cys)
c.*425G>C (n.*425G>C)
c.614G>C (n.614G>C)
c.*84G>C (n.*84G>C)
c.*275G>C (n.*275G>C)
c.123G>C (p.Trp41Cys)
n.301G>C
c.1806G>C (p.Trp602Cys)
c.693G>C (p.Trp231Cys)
c.1788G>C (p.Trp596Cys)
c.1503G>C (p.Trp501Cys)
c.285G>C (p.Trp95Cys)
n.733G>C
17g.63488697G>TCA400557890ACEc.2355G>T (p.Trp785Cys)
c.633G>T (p.Trp211Cys)
c.*425G>T (n.*425G>T)
c.614G>T (n.614G>T)
c.*84G>T (n.*84G>T)
c.*275G>T (n.*275G>T)
c.123G>T (p.Trp41Cys)
n.301G>T
c.1806G>T (p.Trp602Cys)
c.693G>T (p.Trp231Cys)
c.1788G>T (p.Trp596Cys)
c.1503G>T (p.Trp501Cys)
c.285G>T (p.Trp95Cys)
n.733G>T
gnomAD v4 COSMIC
17g.63488698G>ACA400557891ACEc.2356G>A (p.Ala786Thr)
c.634G>A (p.Ala212Thr)
c.*426G>A (n.*426G>A)
c.615G>A (n.615G>A)
c.*85G>A (n.*85G>A)
c.*276G>A (n.*276G>A)
c.124G>A (p.Ala42Thr)
n.302G>A
c.1807G>A (p.Ala603Thr)
c.694G>A (p.Ala232Thr)
c.1789G>A (p.Ala597Thr)
c.1504G>A (p.Ala502Thr)
c.286G>A (p.Ala96Thr)
n.734G>A
COSMIC
17g.63488698G>CCA400557892ACEc.2356G>C (p.Ala786Pro)
c.634G>C (p.Ala212Pro)
c.*426G>C (n.*426G>C)
c.615G>C (n.615G>C)
c.*85G>C (n.*85G>C)
c.*276G>C (n.*276G>C)
c.124G>C (p.Ala42Pro)
n.302G>C
c.1807G>C (p.Ala603Pro)
c.694G>C (p.Ala232Pro)
c.1789G>C (p.Ala597Pro)
c.1504G>C (p.Ala502Pro)
c.286G>C (p.Ala96Pro)
n.734G>C
17g.63488698G>TCA400557893ACEc.2356G>T (p.Ala786Ser)
c.634G>T (p.Ala212Ser)
c.*426G>T (n.*426G>T)
c.615G>T (n.615G>T)
c.*85G>T (n.*85G>T)
c.*276G>T (n.*276G>T)
c.124G>T (p.Ala42Ser)
n.302G>T
c.1807G>T (p.Ala603Ser)
c.694G>T (p.Ala232Ser)
c.1789G>T (p.Ala597Ser)
c.1504G>T (p.Ala502Ser)
c.286G>T (p.Ala96Ser)
n.734G>T
17g.63488699C>ACA400557896ACEc.2357C>A (p.Ala786Glu)
c.635C>A (p.Ala212Glu)
c.*427C>A (n.*427C>A)
c.616C>A (n.616C>A)
c.*86C>A (n.*86C>A)
c.*277C>A (n.*277C>A)
c.125C>A (p.Ala42Glu)
n.303C>A
c.1808C>A (p.Ala603Glu)
c.695C>A (p.Ala232Glu)
c.1790C>A (p.Ala597Glu)
c.1505C>A (p.Ala502Glu)
c.287C>A (p.Ala96Glu)
n.735C>A
17g.63488699C=CA2269945950ACEc.2357C= (p.Ala786=)
c.635C= (p.Ala212=)
c.*427C= (n.*427C=)
c.616C= (n.616C=)
c.*86C= (n.*86C=)
c.*277C= (n.*277C=)
c.125C= (p.Ala42=)
n.303C=
c.1808C= (p.Ala603=)
c.695C= (p.Ala232=)
c.1790C= (p.Ala597=)
c.1505C= (p.Ala502=)
c.287C= (p.Ala96=)
n.735C=
17g.63488699C>GCA400557895ACEc.2357C>G (p.Ala786Gly)
c.635C>G (p.Ala212Gly)
c.*427C>G (n.*427C>G)
c.616C>G (n.616C>G)
c.*86C>G (n.*86C>G)
c.*277C>G (n.*277C>G)
c.125C>G (p.Ala42Gly)
n.303C>G
c.1808C>G (p.Ala603Gly)
c.695C>G (p.Ala232Gly)
c.1790C>G (p.Ala597Gly)
c.1505C>G (p.Ala502Gly)
c.287C>G (p.Ala96Gly)
n.735C>G
17g.63488699C>TCA400557894ACEc.2357C>T (p.Ala786Val)
c.635C>T (p.Ala212Val)
c.*427C>T (n.*427C>T)
c.616C>T (n.616C>T)
c.*86C>T (n.*86C>T)
c.*277C>T (n.*277C>T)
c.125C>T (p.Ala42Val)
n.303C>T
c.1808C>T (p.Ala603Val)
c.695C>T (p.Ala232Val)
c.1790C>T (p.Ala597Val)
c.1505C>T (p.Ala502Val)
c.287C>T (p.Ala96Val)
n.735C>T
dbSNP gnomAD v4
17g.63488700A>CCA501186901ACEc.2358A>C (p.Ala786=)
c.636A>C (p.Ala212=)
c.*428A>C (n.*428A>C)
c.617A>C (n.617A>C)
c.*87A>C (n.*87A>C)
c.*278A>C (n.*278A>C)
c.126A>C (p.Ala42=)
n.304A>C
c.1809A>C (p.Ala603=)
c.696A>C (p.Ala232=)
c.1791A>C (p.Ala597=)
c.1506A>C (p.Ala502=)
c.288A>C (p.Ala96=)
n.736A>C
17g.63488700A>GCA501186905ACEc.2358A>G (p.Ala786=)
c.636A>G (p.Ala212=)
c.*428A>G (n.*428A>G)
c.617A>G (n.617A>G)
c.*87A>G (n.*87A>G)
c.*278A>G (n.*278A>G)
c.126A>G (p.Ala42=)
n.304A>G
c.1809A>G (p.Ala603=)
c.696A>G (p.Ala232=)
c.1791A>G (p.Ala597=)
c.1506A>G (p.Ala502=)
c.288A>G (p.Ala96=)
n.736A>G
17g.63488700A>TCA501186903ACEc.2358A>T (p.Ala786=)
c.636A>T (p.Ala212=)
c.*428A>T (n.*428A>T)
c.617A>T (n.617A>T)
c.*87A>T (n.*87A>T)
c.*278A>T (n.*278A>T)
c.126A>T (p.Ala42=)
n.304A>T
c.1809A>T (p.Ala603=)
c.696A>T (p.Ala232=)
c.1791A>T (p.Ala597=)
c.1506A>T (p.Ala502=)
c.288A>T (p.Ala96=)
n.736A>T
17g.63488701T>ACA400557897ACEc.2359T>A (p.Trp787Arg)
c.637T>A (p.Trp213Arg)
c.*429T>A (n.*429T>A)
c.618T>A (n.618T>A)
c.*88T>A (n.*88T>A)
c.*279T>A (n.*279T>A)
c.127T>A (p.Trp43Arg)
n.305T>A
c.1810T>A (p.Trp604Arg)
c.697T>A (p.Trp233Arg)
c.1792T>A (p.Trp598Arg)
c.1507T>A (p.Trp503Arg)
c.289T>A (p.Trp97Arg)
n.737T>A
17g.63488701T>CCA400557898ACEc.2359T>C (p.Trp787Arg)
c.637T>C (p.Trp213Arg)
c.*429T>C (n.*429T>C)
c.618T>C (n.618T>C)
c.*88T>C (n.*88T>C)
c.*279T>C (n.*279T>C)
c.127T>C (p.Trp43Arg)
n.305T>C
c.1810T>C (p.Trp604Arg)
c.697T>C (p.Trp233Arg)
c.1792T>C (p.Trp598Arg)
c.1507T>C (p.Trp503Arg)
c.289T>C (p.Trp97Arg)
n.737T>C
gnomAD v4
17g.63488701T>GCA400557899ACEc.2359T>G (p.Trp787Gly)
c.637T>G (p.Trp213Gly)
c.*429T>G (n.*429T>G)
c.618T>G (n.618T>G)
c.*88T>G (n.*88T>G)
c.*279T>G (n.*279T>G)
c.127T>G (p.Trp43Gly)
n.305T>G
c.1810T>G (p.Trp604Gly)
c.697T>G (p.Trp233Gly)
c.1792T>G (p.Trp598Gly)
c.1507T>G (p.Trp503Gly)
c.289T>G (p.Trp97Gly)
n.737T>G
17g.63488701_63488702delinsTGCA2269945951ACEc.2359_2360delinsTG (p.Trp787=)
c.637_638delinsTG (p.Trp213=)
c.*429_*430delinsTG (n.*429_*430delinsTG)
c.618_619delinsTG (n.618_619delinsTG)
c.*88_*89delinsTG (n.*88_*89delinsTG)
c.*279_*280delinsTG (n.*279_*280delinsTG)
c.127_128delinsTG (p.Trp43=)
n.305_306delinsTG
c.1810_1811delinsTG (p.Trp604=)
c.697_698delinsTG (p.Trp233=)
c.1792_1793delinsTG (p.Trp598=)
c.1507_1508delinsTG (p.Trp503=)
c.289_290delinsTG (p.Trp97=)
n.737_738delinsTG
17g.63488702G>ACA400557900ACEc.2360G>A (p.Trp787Ter)
c.638G>A (p.Trp213Ter)
c.*430G>A (n.*430G>A)
c.619G>A (n.619G>A)
c.*89G>A (n.*89G>A)
c.*280G>A (n.*280G>A)
c.128G>A (p.Trp43Ter)
n.306G>A
c.1811G>A (p.Trp604Ter)
c.698G>A (p.Trp233Ter)
c.1793G>A (p.Trp598Ter)
c.1508G>A (p.Trp503Ter)
c.290G>A (p.Trp97Ter)
n.738G>A
17g.63488702G>CCA400557901ACEc.2360G>C (p.Trp787Ser)
c.638G>C (p.Trp213Ser)
c.*430G>C (n.*430G>C)
c.619G>C (n.619G>C)
c.*89G>C (n.*89G>C)
c.*280G>C (n.*280G>C)
c.128G>C (p.Trp43Ser)
n.306G>C
c.1811G>C (p.Trp604Ser)
c.698G>C (p.Trp233Ser)
c.1793G>C (p.Trp598Ser)
c.1508G>C (p.Trp503Ser)
c.290G>C (p.Trp97Ser)
n.738G>C
17g.63488702G>TCA400557902ACEc.2360G>T (p.Trp787Leu)
c.638G>T (p.Trp213Leu)
c.*430G>T (n.*430G>T)
c.619G>T (n.619G>T)
c.*89G>T (n.*89G>T)
c.*280G>T (n.*280G>T)
c.128G>T (p.Trp43Leu)
n.306G>T
c.1811G>T (p.Trp604Leu)
c.698G>T (p.Trp233Leu)
c.1793G>T (p.Trp598Leu)
c.1508G>T (p.Trp503Leu)
c.290G>T (p.Trp97Leu)
n.738G>T
17g.63488704delCA773967149ACEc.2362del (p.Glu788ArgfsTer?)
c.640del (p.Glu214ArgfsTer?)
c.*432del (n.*432del)
c.621del (n.621del)
c.*91del (n.*91del)
c.*282del (n.*282del)
c.130del (p.Glu44ArgfsTer?)
n.308del
c.1813del (p.Glu605ArgfsTer?)
c.700del (p.Glu234ArgfsTer?)
c.1795del (p.Glu599ArgfsTer?)
c.1510del (p.Glu504ArgfsTer?)
c.292del (p.Glu98ArgfsTer?)
n.740del
dbSNP
17g.63488703G>ACA8700069ACEc.2361G>A (p.Trp787Ter)
c.639G>A (p.Trp213Ter)
c.*431G>A (n.*431G>A)
c.620G>A (n.620G>A)
c.*90G>A (n.*90G>A)
c.*281G>A (n.*281G>A)
c.129G>A (p.Trp43Ter)
n.307G>A
c.1812G>A (p.Trp604Ter)
c.699G>A (p.Trp233Ter)
c.1794G>A (p.Trp598Ter)
c.1509G>A (p.Trp503Ter)
c.291G>A (p.Trp97Ter)
n.739G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63488703G>CCA400557903ACEc.2361G>C (p.Trp787Cys)
c.639G>C (p.Trp213Cys)
c.*431G>C (n.*431G>C)
c.620G>C (n.620G>C)
c.*90G>C (n.*90G>C)
c.*281G>C (n.*281G>C)
c.129G>C (p.Trp43Cys)
n.307G>C
c.1812G>C (p.Trp604Cys)
c.699G>C (p.Trp233Cys)
c.1794G>C (p.Trp598Cys)
c.1509G>C (p.Trp503Cys)
c.291G>C (p.Trp97Cys)
n.739G>C
17g.63488703G=CA2269945952ACEc.2361G= (p.Trp787=)
c.639G= (p.Trp213=)
c.*431G= (n.*431G=)
c.620G= (n.620G=)
c.*90G= (n.*90G=)
c.*281G= (n.*281G=)
c.129G= (p.Trp43=)
n.307G=
c.1812G= (p.Trp604=)
c.699G= (p.Trp233=)
c.1794G= (p.Trp598=)
c.1509G= (p.Trp503=)
c.291G= (p.Trp97=)
n.739G=
17g.63488703G>TCA400557904ACEc.2361G>T (p.Trp787Cys)
c.639G>T (p.Trp213Cys)
c.*431G>T (n.*431G>T)
c.620G>T (n.620G>T)
c.*90G>T (n.*90G>T)
c.*281G>T (n.*281G>T)
c.129G>T (p.Trp43Cys)
n.307G>T
c.1812G>T (p.Trp604Cys)
c.699G>T (p.Trp233Cys)
c.1794G>T (p.Trp598Cys)
c.1509G>T (p.Trp503Cys)
c.291G>T (p.Trp97Cys)
n.739G>T
17g.63488704G>ACA8700070ACEc.2362G>A (p.Glu788Lys)
c.640G>A (p.Glu214Lys)
c.*432G>A (n.*432G>A)
c.621G>A (n.621G>A)
c.*91G>A (n.*91G>A)
c.*282G>A (n.*282G>A)
c.130G>A (p.Glu44Lys)
n.308G>A
c.1813G>A (p.Glu605Lys)
c.700G>A (p.Glu234Lys)
c.1795G>A (p.Glu599Lys)
c.1510G>A (p.Glu504Lys)
c.292G>A (p.Glu98Lys)
n.740G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.63488704G>CCA400557905ACEc.2362G>C (p.Glu788Gln)
c.640G>C (p.Glu214Gln)
c.*432G>C (n.*432G>C)
c.621G>C (n.621G>C)
c.*91G>C (n.*91G>C)
c.*282G>C (n.*282G>C)
c.130G>C (p.Glu44Gln)
n.308G>C
c.1813G>C (p.Glu605Gln)
c.700G>C (p.Glu234Gln)
c.1795G>C (p.Glu599Gln)
c.1510G>C (p.Glu504Gln)
c.292G>C (p.Glu98Gln)
n.740G>C
17g.63488704G=CA2269945953ACEc.2362G= (p.Glu788=)
c.640G= (p.Glu214=)
c.*432G= (n.*432G=)
c.621G= (n.621G=)
c.*91G= (n.*91G=)
c.*282G= (n.*282G=)
c.130G= (p.Glu44=)
n.308G=
c.1813G= (p.Glu605=)
c.700G= (p.Glu234=)
c.1795G= (p.Glu599=)
c.1510G= (p.Glu504=)
c.292G= (p.Glu98=)
n.740G=
17g.63488704G>TCA400557906ACEc.2362G>T (p.Glu788Ter)
c.640G>T (p.Glu214Ter)
c.*432G>T (n.*432G>T)
c.621G>T (n.621G>T)
c.*91G>T (n.*91G>T)
c.*282G>T (n.*282G>T)
c.130G>T (p.Glu44Ter)
n.308G>T
c.1813G>T (p.Glu605Ter)
c.700G>T (p.Glu234Ter)
c.1795G>T (p.Glu599Ter)
c.1510G>T (p.Glu504Ter)
c.292G>T (p.Glu98Ter)
n.740G>T
17g.63488705A>CCA400557909ACEc.2363A>C (p.Glu788Ala)
c.641A>C (p.Glu214Ala)
c.*433A>C (n.*433A>C)
c.622A>C (n.622A>C)
c.*92A>C (n.*92A>C)
c.*283A>C (n.*283A>C)
c.131A>C (p.Glu44Ala)
n.309A>C
c.1814A>C (p.Glu605Ala)
c.701A>C (p.Glu234Ala)
c.1796A>C (p.Glu599Ala)
c.1511A>C (p.Glu504Ala)
c.293A>C (p.Glu98Ala)
n.741A>C
17g.63488705A>GCA400557908ACEc.2363A>G (p.Glu788Gly)
c.641A>G (p.Glu214Gly)
c.*433A>G (n.*433A>G)
c.622A>G (n.622A>G)
c.*92A>G (n.*92A>G)
c.*283A>G (n.*283A>G)
c.131A>G (p.Glu44Gly)
n.309A>G
c.1814A>G (p.Glu605Gly)
c.701A>G (p.Glu234Gly)
c.1796A>G (p.Glu599Gly)
c.1511A>G (p.Glu504Gly)
c.293A>G (p.Glu98Gly)
n.741A>G
COSMIC COSMIC COSMIC
17g.63488705A>TCA400557907ACEc.2363A>T (p.Glu788Val)
c.641A>T (p.Glu214Val)
c.*433A>T (n.*433A>T)
c.622A>T (n.622A>T)
c.*92A>T (n.*92A>T)
c.*283A>T (n.*283A>T)
c.131A>T (p.Glu44Val)
n.309A>T
c.1814A>T (p.Glu605Val)
c.701A>T (p.Glu234Val)
c.1796A>T (p.Glu599Val)
c.1511A>T (p.Glu504Val)
c.293A>T (p.Glu98Val)
n.741A>T
17g.63488706G>ACA8700072ACEc.2364G>A (p.Glu788=)
c.642G>A (p.Glu214=)
c.*434G>A (n.*434G>A)
c.623G>A (n.623G>A)
c.*93G>A (n.*93G>A)
c.*284G>A (n.*284G>A)
c.132G>A (p.Glu44=)
n.310G>A
c.1815G>A (p.Glu605=)
c.702G>A (p.Glu234=)
c.1797G>A (p.Glu599=)
c.1512G>A (p.Glu504=)
c.294G>A (p.Glu98=)
n.742G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
17g.63488706G>CCA400557910ACEc.2364G>C (p.Glu788Asp)
c.642G>C (p.Glu214Asp)
c.*434G>C (n.*434G>C)
c.623G>C (n.623G>C)
c.*93G>C (n.*93G>C)
c.*284G>C (n.*284G>C)
c.132G>C (p.Glu44Asp)
n.310G>C
c.1815G>C (p.Glu605Asp)
c.702G>C (p.Glu234Asp)
c.1797G>C (p.Glu599Asp)
c.1512G>C (p.Glu504Asp)
c.294G>C (p.Glu98Asp)
n.742G>C
17g.63488706G=CA2269945954ACEc.2364G= (p.Glu788=)
c.642G= (p.Glu214=)
c.*434G= (n.*434G=)
c.623G= (n.623G=)
c.*93G= (n.*93G=)
c.*284G= (n.*284G=)
c.132G= (p.Glu44=)
n.310G=
c.1815G= (p.Glu605=)
c.702G= (p.Glu234=)
c.1797G= (p.Glu599=)
c.1512G= (p.Glu504=)
c.294G= (p.Glu98=)
n.742G=
17g.63488706G>TCA8700071ACEc.2364G>T (p.Glu788Asp)
c.642G>T (p.Glu214Asp)
c.*434G>T (n.*434G>T)
c.623G>T (n.623G>T)
c.*93G>T (n.*93G>T)
c.*284G>T (n.*284G>T)
c.132G>T (p.Glu44Asp)
n.310G>T
c.1815G>T (p.Glu605Asp)
c.702G>T (p.Glu234Asp)
c.1797G>T (p.Glu599Asp)
c.1512G>T (p.Glu504Asp)
c.294G>T (p.Glu98Asp)
n.742G>T
dbSNP ExAC gnomAD v3 gnomAD v4
17g.63488707G>ACA400557911ACEc.2365G>A (p.Gly789Ser)
c.643G>A (p.Gly215Ser)
c.*435G>A (n.*435G>A)
c.624G>A (n.624G>A)
c.*94G>A (n.*94G>A)
c.*285G>A (n.*285G>A)
c.133G>A (p.Gly45Ser)
n.311G>A
c.1816G>A (p.Gly606Ser)
c.703G>A (p.Gly235Ser)
c.1798G>A (p.Gly600Ser)
c.1513G>A (p.Gly505Ser)
c.295G>A (p.Gly99Ser)
n.743G>A
17g.63488707G>CCA400557912ACEc.2365G>C (p.Gly789Arg)
c.643G>C (p.Gly215Arg)
c.*435G>C (n.*435G>C)
c.624G>C (n.624G>C)
c.*94G>C (n.*94G>C)
c.*285G>C (n.*285G>C)
c.133G>C (p.Gly45Arg)
n.311G>C
c.1816G>C (p.Gly606Arg)
c.703G>C (p.Gly235Arg)
c.1798G>C (p.Gly600Arg)
c.1513G>C (p.Gly505Arg)
c.295G>C (p.Gly99Arg)
n.743G>C
17g.63488707G>TCA400557913ACEc.2365G>T (p.Gly789Cys)
c.643G>T (p.Gly215Cys)
c.*435G>T (n.*435G>T)
c.624G>T (n.624G>T)
c.*94G>T (n.*94G>T)
c.*285G>T (n.*285G>T)
c.133G>T (p.Gly45Cys)
n.311G>T
c.1816G>T (p.Gly606Cys)
c.703G>T (p.Gly235Cys)
c.1798G>T (p.Gly600Cys)
c.1513G>T (p.Gly505Cys)
c.295G>T (p.Gly99Cys)
n.743G>T
gnomAD v3 gnomAD v4
17g.63488708G>ACA292883424ACEc.2366G>A (p.Gly789Asp)
c.644G>A (p.Gly215Asp)
c.*436G>A (n.*436G>A)
c.625G>A (n.625G>A)
c.*95G>A (n.*95G>A)
c.*286G>A (n.*286G>A)
c.134G>A (p.Gly45Asp)
n.312G>A
c.1817G>A (p.Gly606Asp)
c.704G>A (p.Gly235Asp)
c.1799G>A (p.Gly600Asp)
c.1514G>A (p.Gly505Asp)
c.296G>A (p.Gly99Asp)
n.744G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488708G>CCA400557914ACEc.2366G>C (p.Gly789Ala)
c.644G>C (p.Gly215Ala)
c.*436G>C (n.*436G>C)
c.625G>C (n.625G>C)
c.*95G>C (n.*95G>C)
c.*286G>C (n.*286G>C)
c.134G>C (p.Gly45Ala)
n.312G>C
c.1817G>C (p.Gly606Ala)
c.704G>C (p.Gly235Ala)
c.1799G>C (p.Gly600Ala)
c.1514G>C (p.Gly505Ala)
c.296G>C (p.Gly99Ala)
n.744G>C
gnomAD v4
17g.63488708G=CA2269945955ACEc.2366G= (p.Gly789=)
c.644G= (p.Gly215=)
c.*436G= (n.*436G=)
c.625G= (n.625G=)
c.*95G= (n.*95G=)
c.*286G= (n.*286G=)
c.134G= (p.Gly45=)
n.312G=
c.1817G= (p.Gly606=)
c.704G= (p.Gly235=)
c.1799G= (p.Gly600=)
c.1514G= (p.Gly505=)
c.296G= (p.Gly99=)
n.744G=
17g.63488708G>TCA400557915ACEc.2366G>T (p.Gly789Val)
c.644G>T (p.Gly215Val)
c.*436G>T (n.*436G>T)
c.625G>T (n.625G>T)
c.*95G>T (n.*95G>T)
c.*286G>T (n.*286G>T)
c.134G>T (p.Gly45Val)
n.312G>T
c.1817G>T (p.Gly606Val)
c.704G>T (p.Gly235Val)
c.1799G>T (p.Gly600Val)
c.1514G>T (p.Gly505Val)
c.296G>T (p.Gly99Val)
n.744G>T
gnomAD v4
17g.63488709C>ACA8700073ACEc.2367C>A (p.Gly789=)
c.645C>A (p.Gly215=)
c.*437C>A (n.*437C>A)
c.626C>A (n.626C>A)
c.*96C>A (n.*96C>A)
c.*287C>A (n.*287C>A)
c.135C>A (p.Gly45=)
n.313C>A
c.1818C>A (p.Gly606=)
c.705C>A (p.Gly235=)
c.1800C>A (p.Gly600=)
c.1515C>A (p.Gly505=)
c.297C>A (p.Gly99=)
n.745C>A
dbSNP ExAC gnomAD v2
17g.63488709C=CA2269945956ACEc.2367C= (p.Gly789=)
c.645C= (p.Gly215=)
c.*437C= (n.*437C=)
c.626C= (n.626C=)
c.*96C= (n.*96C=)
c.*287C= (n.*287C=)
c.135C= (p.Gly45=)
n.313C=
c.1818C= (p.Gly606=)
c.705C= (p.Gly235=)
c.1800C= (p.Gly600=)
c.1515C= (p.Gly505=)
c.297C= (p.Gly99=)
n.745C=
17g.63488709C>GCA8700074ACEc.2367C>G (p.Gly789=)
c.645C>G (p.Gly215=)
c.*437C>G (n.*437C>G)
c.626C>G (n.626C>G)
c.*96C>G (n.*96C>G)
c.*287C>G (n.*287C>G)
c.135C>G (p.Gly45=)
n.313C>G
c.1818C>G (p.Gly606=)
c.705C>G (p.Gly235=)
c.1800C>G (p.Gly600=)
c.1515C>G (p.Gly505=)
c.297C>G (p.Gly99=)
n.745C>G
dbSNP ExAC gnomAD v4
17g.63488709C>TCA501186949ACEc.2367C>T (p.Gly789=)
c.645C>T (p.Gly215=)
c.*437C>T (n.*437C>T)
c.626C>T (n.626C>T)
c.*96C>T (n.*96C>T)
c.*287C>T (n.*287C>T)
c.135C>T (p.Gly45=)
n.313C>T
c.1818C>T (p.Gly606=)
c.705C>T (p.Gly235=)
c.1800C>T (p.Gly600=)
c.1515C>T (p.Gly505=)
c.297C>T (p.Gly99=)
n.745C>T
gnomAD v4
17g.63488710T>ACA400557916ACEc.2368T>A (p.Trp790Arg)
c.646T>A (p.Trp216Arg)
c.*438T>A (n.*438T>A)
c.627T>A (n.627T>A)
c.*97T>A (n.*97T>A)
c.*288T>A (n.*288T>A)
c.136T>A (p.Trp46Arg)
n.314T>A
c.1819T>A (p.Trp607Arg)
c.706T>A (p.Trp236Arg)
c.1801T>A (p.Trp601Arg)
c.1516T>A (p.Trp506Arg)
c.298T>A (p.Trp100Arg)
n.746T>A
17g.63488710T>CCA400557917ACEc.2368T>C (p.Trp790Arg)
c.646T>C (p.Trp216Arg)
c.*438T>C (n.*438T>C)
c.627T>C (n.627T>C)
c.*97T>C (n.*97T>C)
c.*288T>C (n.*288T>C)
c.136T>C (p.Trp46Arg)
n.314T>C
c.1819T>C (p.Trp607Arg)
c.706T>C (p.Trp236Arg)
c.1801T>C (p.Trp601Arg)
c.1516T>C (p.Trp506Arg)
c.298T>C (p.Trp100Arg)
n.746T>C
17g.63488710T>GCA400557918ACEc.2368T>G (p.Trp790Gly)
c.646T>G (p.Trp216Gly)
c.*438T>G (n.*438T>G)
c.627T>G (n.627T>G)
c.*97T>G (n.*97T>G)
c.*288T>G (n.*288T>G)
c.136T>G (p.Trp46Gly)
n.314T>G
c.1819T>G (p.Trp607Gly)
c.706T>G (p.Trp236Gly)
c.1801T>G (p.Trp601Gly)
c.1516T>G (p.Trp506Gly)
c.298T>G (p.Trp100Gly)
n.746T>G
17g.63488711G>ACA400557919ACEc.2369G>A (p.Trp790Ter)
c.647G>A (p.Trp216Ter)
c.*439G>A (n.*439G>A)
c.628G>A (n.628G>A)
c.*98G>A (n.*98G>A)
c.*289G>A (n.*289G>A)
c.137G>A (p.Trp46Ter)
n.315G>A
c.1820G>A (p.Trp607Ter)
c.707G>A (p.Trp236Ter)
c.1802G>A (p.Trp601Ter)
c.1517G>A (p.Trp506Ter)
c.299G>A (p.Trp100Ter)
n.747G>A
17g.63488711G>CCA400557921ACEc.2369G>C (p.Trp790Ser)
c.647G>C (p.Trp216Ser)
c.*439G>C (n.*439G>C)
c.628G>C (n.628G>C)
c.*98G>C (n.*98G>C)
c.*289G>C (n.*289G>C)
c.137G>C (p.Trp46Ser)
n.315G>C
c.1820G>C (p.Trp607Ser)
c.707G>C (p.Trp236Ser)
c.1802G>C (p.Trp601Ser)
c.1517G>C (p.Trp506Ser)
c.299G>C (p.Trp100Ser)
n.747G>C
17g.63488711G>TCA400557920ACEc.2369G>T (p.Trp790Leu)
c.647G>T (p.Trp216Leu)
c.*439G>T (n.*439G>T)
c.628G>T (n.628G>T)
c.*98G>T (n.*98G>T)
c.*289G>T (n.*289G>T)
c.137G>T (p.Trp46Leu)
n.315G>T
c.1820G>T (p.Trp607Leu)
c.707G>T (p.Trp236Leu)
c.1802G>T (p.Trp601Leu)
c.1517G>T (p.Trp506Leu)
c.299G>T (p.Trp100Leu)
n.747G>T
17g.63488712G>ACA400557922ACEc.2370G>A (p.Trp790Ter)
c.648G>A (p.Trp216Ter)
c.*440G>A (n.*440G>A)
c.629G>A (n.629G>A)
c.*99G>A (n.*99G>A)
c.*290G>A (n.*290G>A)
c.138G>A (p.Trp46Ter)
n.316G>A
c.1821G>A (p.Trp607Ter)
c.708G>A (p.Trp236Ter)
c.1803G>A (p.Trp601Ter)
c.1518G>A (p.Trp506Ter)
c.300G>A (p.Trp100Ter)
n.748G>A
17g.63488712G>CCA400557923ACEc.2370G>C (p.Trp790Cys)
c.648G>C (p.Trp216Cys)
c.*440G>C (n.*440G>C)
c.629G>C (n.629G>C)
c.*99G>C (n.*99G>C)
c.*290G>C (n.*290G>C)
c.138G>C (p.Trp46Cys)
n.316G>C
c.1821G>C (p.Trp607Cys)
c.708G>C (p.Trp236Cys)
c.1803G>C (p.Trp601Cys)
c.1518G>C (p.Trp506Cys)
c.300G>C (p.Trp100Cys)
n.748G>C
17g.63488712G>TCA400557924ACEc.2370G>T (p.Trp790Cys)
c.648G>T (p.Trp216Cys)
c.*440G>T (n.*440G>T)
c.629G>T (n.629G>T)
c.*99G>T (n.*99G>T)
c.*290G>T (n.*290G>T)
c.138G>T (p.Trp46Cys)
n.316G>T
c.1821G>T (p.Trp607Cys)
c.708G>T (p.Trp236Cys)
c.1803G>T (p.Trp601Cys)
c.1518G>T (p.Trp506Cys)
c.300G>T (p.Trp100Cys)
n.748G>T
17g.63488713C>ACA501186969ACEc.2371C>A (p.Arg791=)
c.649C>A (p.Arg217=)
c.*441C>A (n.*441C>A)
c.630C>A (n.630C>A)
c.*100C>A (n.*100C>A)
c.*291C>A (n.*291C>A)
c.139C>A (p.Arg47=)
n.317C>A
c.1822C>A (p.Arg608=)
c.709C>A (p.Arg237=)
c.1804C>A (p.Arg602=)
c.1519C>A (p.Arg507=)
c.301C>A (p.Arg101=)
n.749C>A
17g.63488713C=CA2269945957ACEc.2371C= (p.Arg791=)
c.649C= (p.Arg217=)
c.*441C= (n.*441C=)
c.630C= (n.630C=)
c.*100C= (n.*100C=)
c.*291C= (n.*291C=)
c.139C= (p.Arg47=)
n.317C=
c.1822C= (p.Arg608=)
c.709C= (p.Arg237=)
c.1804C= (p.Arg602=)
c.1519C= (p.Arg507=)
c.301C= (p.Arg101=)
n.749C=
17g.63488713C>GCA400557925ACEc.2371C>G (p.Arg791Gly)
c.649C>G (p.Arg217Gly)
c.*441C>G (n.*441C>G)
c.630C>G (n.630C>G)
c.*100C>G (n.*100C>G)
c.*291C>G (n.*291C>G)
c.139C>G (p.Arg47Gly)
n.317C>G
c.1822C>G (p.Arg608Gly)
c.709C>G (p.Arg237Gly)
c.1804C>G (p.Arg602Gly)
c.1519C>G (p.Arg507Gly)
c.301C>G (p.Arg101Gly)
n.749C>G
17g.63488713C>TCA143701ACEc.2371C>T (p.Arg791Ter)
c.649C>T (p.Arg217Ter)
c.*441C>T (n.*441C>T)
c.630C>T (n.630C>T)
c.*100C>T (n.*100C>T)
c.*291C>T (n.*291C>T)
c.139C>T (p.Arg47Ter)
n.317C>T
c.1822C>T (p.Arg608Ter)
c.709C>T (p.Arg237Ter)
c.1804C>T (p.Arg602Ter)
c.1519C>T (p.Arg507Ter)
c.301C>T (p.Arg101Ter)
n.749C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.63488714G>ACA8700075ACEc.2372G>A (p.Arg791Gln)
c.650G>A (p.Arg217Gln)
c.*442G>A (n.*442G>A)
c.631G>A (n.631G>A)
c.*101G>A (n.*101G>A)
c.*292G>A (n.*292G>A)
c.140G>A (p.Arg47Gln)
n.318G>A
c.1823G>A (p.Arg608Gln)
c.710G>A (p.Arg237Gln)
c.1805G>A (p.Arg602Gln)
c.1520G>A (p.Arg507Gln)
c.302G>A (p.Arg101Gln)
n.750G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63488714G>CCA400557926ACEc.2372G>C (p.Arg791Pro)
c.650G>C (p.Arg217Pro)
c.*442G>C (n.*442G>C)
c.631G>C (n.631G>C)
c.*101G>C (n.*101G>C)
c.*292G>C (n.*292G>C)
c.140G>C (p.Arg47Pro)
n.318G>C
c.1823G>C (p.Arg608Pro)
c.710G>C (p.Arg237Pro)
c.1805G>C (p.Arg602Pro)
c.1520G>C (p.Arg507Pro)
c.302G>C (p.Arg101Pro)
n.750G>C
17g.63488714G=CA2269945958ACEc.2372G= (p.Arg791=)
c.650G= (p.Arg217=)
c.*442G= (n.*442G=)
c.631G= (n.631G=)
c.*101G= (n.*101G=)
c.*292G= (n.*292G=)
c.140G= (p.Arg47=)
n.318G=
c.1823G= (p.Arg608=)
c.710G= (p.Arg237=)
c.1805G= (p.Arg602=)
c.1520G= (p.Arg507=)
c.302G= (p.Arg101=)
n.750G=
17g.63488714G>TCA400557927ACEc.2372G>T (p.Arg791Leu)
c.650G>T (p.Arg217Leu)
c.*442G>T (n.*442G>T)
c.631G>T (n.631G>T)
c.*101G>T (n.*101G>T)
c.*292G>T (n.*292G>T)
c.140G>T (p.Arg47Leu)
n.318G>T
c.1823G>T (p.Arg608Leu)
c.710G>T (p.Arg237Leu)
c.1805G>T (p.Arg602Leu)
c.1520G>T (p.Arg507Leu)
c.302G>T (p.Arg101Leu)
n.750G>T
17g.63488715A>CCA501186980ACEc.2373A>C (p.Arg791=)
c.651A>C (p.Arg217=)
c.*443A>C (n.*443A>C)
c.632A>C (n.632A>C)
c.*102A>C (n.*102A>C)
c.*293A>C (n.*293A>C)
c.141A>C (p.Arg47=)
n.319A>C
c.1824A>C (p.Arg608=)
c.711A>C (p.Arg237=)
c.1806A>C (p.Arg602=)
c.1521A>C (p.Arg507=)
c.303A>C (p.Arg101=)
n.751A>C
17g.63488715A>GCA501186984ACEc.2373A>G (p.Arg791=)
c.651A>G (p.Arg217=)
c.*443A>G (n.*443A>G)
c.632A>G (n.632A>G)
c.*102A>G (n.*102A>G)
c.*293A>G (n.*293A>G)
c.141A>G (p.Arg47=)
n.319A>G
c.1824A>G (p.Arg608=)
c.711A>G (p.Arg237=)
c.1806A>G (p.Arg602=)
c.1521A>G (p.Arg507=)
c.303A>G (p.Arg101=)
n.751A>G
17g.63488715A>TCA501186987ACEc.2373A>T (p.Arg791=)
c.651A>T (p.Arg217=)
c.*443A>T (n.*443A>T)
c.632A>T (n.632A>T)
c.*102A>T (n.*102A>T)
c.*293A>T (n.*293A>T)
c.141A>T (p.Arg47=)
n.319A>T
c.1824A>T (p.Arg608=)
c.711A>T (p.Arg237=)
c.1806A>T (p.Arg602=)
c.1521A>T (p.Arg507=)
c.303A>T (p.Arg101=)
n.751A>T
17g.63488716G>ACA400557928ACEc.2374G>A (p.Asp792Asn)
c.652G>A (p.Asp218Asn)
c.*444G>A (n.*444G>A)
c.633G>A (n.633G>A)
c.*103G>A (n.*103G>A)
c.*294G>A (n.*294G>A)
c.142G>A (p.Asp48Asn)
n.320G>A
c.1825G>A (p.Asp609Asn)
c.712G>A (p.Asp238Asn)
c.1807G>A (p.Asp603Asn)
c.1522G>A (p.Asp508Asn)
c.304G>A (p.Asp102Asn)
n.752G>A
gnomAD v4
17g.63488716G>CCA400557929ACEc.2374G>C (p.Asp792His)
c.652G>C (p.Asp218His)
c.*444G>C (n.*444G>C)
c.633G>C (n.633G>C)
c.*103G>C (n.*103G>C)
c.*294G>C (n.*294G>C)
c.142G>C (p.Asp48His)
n.320G>C
c.1825G>C (p.Asp609His)
c.712G>C (p.Asp238His)
c.1807G>C (p.Asp603His)
c.1522G>C (p.Asp508His)
c.304G>C (p.Asp102His)
n.752G>C
dbSNP gnomAD v2 gnomAD v4
17g.63488716G=CA2269945959ACEc.2374G= (p.Asp792=)
c.652G= (p.Asp218=)
c.*444G= (n.*444G=)
c.633G= (n.633G=)
c.*103G= (n.*103G=)
c.*294G= (n.*294G=)
c.142G= (p.Asp48=)
n.320G=
c.1825G= (p.Asp609=)
c.712G= (p.Asp238=)
c.1807G= (p.Asp603=)
c.1522G= (p.Asp508=)
c.304G= (p.Asp102=)
n.752G=
17g.63488716G>TCA400557930ACEc.2374G>T (p.Asp792Tyr)
c.652G>T (p.Asp218Tyr)
c.*444G>T (n.*444G>T)
c.633G>T (n.633G>T)
c.*103G>T (n.*103G>T)
c.*294G>T (n.*294G>T)
c.142G>T (p.Asp48Tyr)
n.320G>T
c.1825G>T (p.Asp609Tyr)
c.712G>T (p.Asp238Tyr)
c.1807G>T (p.Asp603Tyr)
c.1522G>T (p.Asp508Tyr)
c.304G>T (p.Asp102Tyr)
n.752G>T
17g.63488717A>CCA400557932ACEc.2375A>C (p.Asp792Ala)
c.653A>C (p.Asp218Ala)
c.*445A>C (n.*445A>C)
c.634A>C (n.634A>C)
c.*104A>C (n.*104A>C)
c.*295A>C (n.*295A>C)
c.143A>C (p.Asp48Ala)
n.321A>C
c.1826A>C (p.Asp609Ala)
c.713A>C (p.Asp238Ala)
c.1808A>C (p.Asp603Ala)
c.1523A>C (p.Asp508Ala)
c.305A>C (p.Asp102Ala)
n.753A>C
17g.63488717A>GCA400557933ACEc.2375A>G (p.Asp792Gly)
c.653A>G (p.Asp218Gly)
c.*445A>G (n.*445A>G)
c.634A>G (n.634A>G)
c.*104A>G (n.*104A>G)
c.*295A>G (n.*295A>G)
c.143A>G (p.Asp48Gly)
n.321A>G
c.1826A>G (p.Asp609Gly)
c.713A>G (p.Asp238Gly)
c.1808A>G (p.Asp603Gly)
c.1523A>G (p.Asp508Gly)
c.305A>G (p.Asp102Gly)
n.753A>G
17g.63488717A>TCA400557931ACEc.2375A>T (p.Asp792Val)
c.653A>T (p.Asp218Val)
c.*445A>T (n.*445A>T)
c.634A>T (n.634A>T)
c.*104A>T (n.*104A>T)
c.*295A>T (n.*295A>T)
c.143A>T (p.Asp48Val)
n.321A>T
c.1826A>T (p.Asp609Val)
c.713A>T (p.Asp238Val)
c.1808A>T (p.Asp603Val)
c.1523A>T (p.Asp508Val)
c.305A>T (p.Asp102Val)
n.753A>T
17g.63488718C>ACA400557935ACEc.2376C>A (p.Asp792Glu)
c.654C>A (p.Asp218Glu)
c.*446C>A (n.*446C>A)
c.635C>A (n.635C>A)
c.*105C>A (n.*105C>A)
c.*296C>A (n.*296C>A)
c.144C>A (p.Asp48Glu)
n.322C>A
c.1827C>A (p.Asp609Glu)
c.714C>A (p.Asp238Glu)
c.1809C>A (p.Asp603Glu)
c.1524C>A (p.Asp508Glu)
c.306C>A (p.Asp102Glu)
n.754C>A
17g.63488718C=CA2269945960ACEc.2376C= (p.Asp792=)
c.654C= (p.Asp218=)
c.*446C= (n.*446C=)
c.635C= (n.635C=)
c.*105C= (n.*105C=)
c.*296C= (n.*296C=)
c.144C= (p.Asp48=)
n.322C=
c.1827C= (p.Asp609=)
c.714C= (p.Asp238=)
c.1809C= (p.Asp603=)
c.1524C= (p.Asp508=)
c.306C= (p.Asp102=)
n.754C=
17g.63488718C>GCA400557934ACEc.2376C>G (p.Asp792Glu)
c.654C>G (p.Asp218Glu)
c.*446C>G (n.*446C>G)
c.635C>G (n.635C>G)
c.*105C>G (n.*105C>G)
c.*296C>G (n.*296C>G)
c.144C>G (p.Asp48Glu)
n.322C>G
c.1827C>G (p.Asp609Glu)
c.714C>G (p.Asp238Glu)
c.1809C>G (p.Asp603Glu)
c.1524C>G (p.Asp508Glu)
c.306C>G (p.Asp102Glu)
n.754C>G
gnomAD v4
17g.63488718C>TCA8700076ACEc.2376C>T (p.Asp792=)
c.654C>T (p.Asp218=)
c.*446C>T (n.*446C>T)
c.635C>T (n.635C>T)
c.*105C>T (n.*105C>T)
c.*296C>T (n.*296C>T)
c.144C>T (p.Asp48=)
n.322C>T
c.1827C>T (p.Asp609=)
c.714C>T (p.Asp238=)
c.1809C>T (p.Asp603=)
c.1524C>T (p.Asp508=)
c.306C>T (p.Asp102=)
n.754C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63488719A>CCA400557936ACEc.2377A>C (p.Lys793Gln)
c.655A>C (p.Lys219Gln)
c.*447A>C (n.*447A>C)
c.636A>C (n.636A>C)
c.*106A>C (n.*106A>C)
c.*297A>C (n.*297A>C)
c.145A>C (p.Lys49Gln)
n.323A>C
c.1828A>C (p.Lys610Gln)
c.715A>C (p.Lys239Gln)
c.1810A>C (p.Lys604Gln)
c.1525A>C (p.Lys509Gln)
c.307A>C (p.Lys103Gln)
n.755A>C
17g.63488719A>GCA400557938ACEc.2377A>G (p.Lys793Glu)
c.655A>G (p.Lys219Glu)
c.*447A>G (n.*447A>G)
c.636A>G (n.636A>G)
c.*106A>G (n.*106A>G)
c.*297A>G (n.*297A>G)
c.145A>G (p.Lys49Glu)
n.323A>G
c.1828A>G (p.Lys610Glu)
c.715A>G (p.Lys239Glu)
c.1810A>G (p.Lys604Glu)
c.1525A>G (p.Lys509Glu)
c.307A>G (p.Lys103Glu)
n.755A>G
17g.63488719A>TCA400557937ACEc.2377A>T (p.Lys793Ter)
c.655A>T (p.Lys219Ter)
c.*447A>T (n.*447A>T)
c.636A>T (n.636A>T)
c.*106A>T (n.*106A>T)
c.*297A>T (n.*297A>T)
c.145A>T (p.Lys49Ter)
n.323A>T
c.1828A>T (p.Lys610Ter)
c.715A>T (p.Lys239Ter)
c.1810A>T (p.Lys604Ter)
c.1525A>T (p.Lys509Ter)
c.307A>T (p.Lys103Ter)
n.755A>T
17g.63488720A=CA2269945961ACEc.2378A= (p.Lys793=)
c.656A= (p.Lys219=)
c.*448A= (n.*448A=)
c.637A= (n.637A=)
c.*107A= (n.*107A=)
c.*298A= (n.*298A=)
c.146A= (p.Lys49=)
n.324A=
c.1829A= (p.Lys610=)
c.716A= (p.Lys239=)
c.1811A= (p.Lys604=)
c.1526A= (p.Lys509=)
c.308A= (p.Lys103=)
n.756A=
17g.63488720A>CCA8700077ACEc.2378A>C (p.Lys793Thr)
c.656A>C (p.Lys219Thr)
c.*448A>C (n.*448A>C)
c.637A>C (n.637A>C)
c.*107A>C (n.*107A>C)
c.*298A>C (n.*298A>C)
c.146A>C (p.Lys49Thr)
n.324A>C
c.1829A>C (p.Lys610Thr)
c.716A>C (p.Lys239Thr)
c.1811A>C (p.Lys604Thr)
c.1526A>C (p.Lys509Thr)
c.308A>C (p.Lys103Thr)
n.756A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488720A>GCA400557939ACEc.2378A>G (p.Lys793Arg)
c.656A>G (p.Lys219Arg)
c.*448A>G (n.*448A>G)
c.637A>G (n.637A>G)
c.*107A>G (n.*107A>G)
c.*298A>G (n.*298A>G)
c.146A>G (p.Lys49Arg)
n.324A>G
c.1829A>G (p.Lys610Arg)
c.716A>G (p.Lys239Arg)
c.1811A>G (p.Lys604Arg)
c.1526A>G (p.Lys509Arg)
c.308A>G (p.Lys103Arg)
n.756A>G
17g.63488720A>TCA400557940ACEc.2378A>T (p.Lys793Met)
c.656A>T (p.Lys219Met)
c.*448A>T (n.*448A>T)
c.637A>T (n.637A>T)
c.*107A>T (n.*107A>T)
c.*298A>T (n.*298A>T)
c.146A>T (p.Lys49Met)
n.324A>T
c.1829A>T (p.Lys610Met)
c.716A>T (p.Lys239Met)
c.1811A>T (p.Lys604Met)
c.1526A>T (p.Lys509Met)
c.308A>T (p.Lys103Met)
n.756A>T
dbSNP
17g.63488721G>ACA501187043ACEc.2379G>A (p.Lys793=)
c.657G>A (p.Lys219=)
c.*449G>A (n.*449G>A)
c.638G>A (n.638G>A)
c.*108G>A (n.*108G>A)
c.*299G>A (n.*299G>A)
c.147G>A (p.Lys49=)
n.325G>A
c.1830G>A (p.Lys610=)
c.717G>A (p.Lys239=)
c.1812G>A (p.Lys604=)
c.1527G>A (p.Lys509=)
c.309G>A (p.Lys103=)
n.757G>A
17g.63488721G>CCA400557941ACEc.2379G>C (p.Lys793Asn)
c.657G>C (p.Lys219Asn)
c.*449G>C (n.*449G>C)
c.638G>C (n.638G>C)
c.*108G>C (n.*108G>C)
c.*299G>C (n.*299G>C)
c.147G>C (p.Lys49Asn)
n.325G>C
c.1830G>C (p.Lys610Asn)
c.717G>C (p.Lys239Asn)
c.1812G>C (p.Lys604Asn)
c.1527G>C (p.Lys509Asn)
c.309G>C (p.Lys103Asn)
n.757G>C
17g.63488721G>TCA400557942ACEc.2379G>T (p.Lys793Asn)
c.657G>T (p.Lys219Asn)
c.*449G>T (n.*449G>T)
c.638G>T (n.638G>T)
c.*108G>T (n.*108G>T)
c.*299G>T (n.*299G>T)
c.147G>T (p.Lys49Asn)
n.325G>T
c.1830G>T (p.Lys610Asn)
c.717G>T (p.Lys239Asn)
c.1812G>T (p.Lys604Asn)
c.1527G>T (p.Lys509Asn)
c.309G>T (p.Lys103Asn)
n.757G>T
17g.63488722G>ACA8700078ACEc.2380G>A (p.Ala794Thr)
c.658G>A (p.Ala220Thr)
c.*450G>A (n.*450G>A)
c.639G>A (n.639G>A)
c.*109G>A (n.*109G>A)
c.*300G>A (n.*300G>A)
c.148G>A (p.Ala50Thr)
n.326G>A
c.1831G>A (p.Ala611Thr)
c.718G>A (p.Ala240Thr)
c.1813G>A (p.Ala605Thr)
c.1528G>A (p.Ala510Thr)
c.310G>A (p.Ala104Thr)
n.758G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63488722G>CCA400557943ACEc.2380G>C (p.Ala794Pro)
c.658G>C (p.Ala220Pro)
c.*450G>C (n.*450G>C)
c.639G>C (n.639G>C)
c.*109G>C (n.*109G>C)
c.*300G>C (n.*300G>C)
c.148G>C (p.Ala50Pro)
n.326G>C
c.1831G>C (p.Ala611Pro)
c.718G>C (p.Ala240Pro)
c.1813G>C (p.Ala605Pro)
c.1528G>C (p.Ala510Pro)
c.310G>C (p.Ala104Pro)
n.758G>C
17g.63488722G=CA2269945962ACEc.2380G= (p.Ala794=)
c.658G= (p.Ala220=)
c.*450G= (n.*450G=)
c.639G= (n.639G=)
c.*109G= (n.*109G=)
c.*300G= (n.*300G=)
c.148G= (p.Ala50=)
n.326G=
c.1831G= (p.Ala611=)
c.718G= (p.Ala240=)
c.1813G= (p.Ala605=)
c.1528G= (p.Ala510=)
c.310G= (p.Ala104=)
n.758G=
17g.63488722G>TCA400557944ACEc.2380G>T (p.Ala794Ser)
c.658G>T (p.Ala220Ser)
c.*450G>T (n.*450G>T)
c.639G>T (n.639G>T)
c.*109G>T (n.*109G>T)
c.*300G>T (n.*300G>T)
c.148G>T (p.Ala50Ser)
n.326G>T
c.1831G>T (p.Ala611Ser)
c.718G>T (p.Ala240Ser)
c.1813G>T (p.Ala605Ser)
c.1528G>T (p.Ala510Ser)
c.310G>T (p.Ala104Ser)
n.758G>T
17g.63488723C>ACA400557945ACEc.2381C>A (p.Ala794Glu)
c.659C>A (p.Ala220Glu)
c.*451C>A (n.*451C>A)
c.640C>A (n.640C>A)
c.*110C>A (n.*110C>A)
c.*301C>A (n.*301C>A)
c.149C>A (p.Ala50Glu)
n.327C>A
c.1832C>A (p.Ala611Glu)
c.719C>A (p.Ala240Glu)
c.1814C>A (p.Ala605Glu)
c.1529C>A (p.Ala510Glu)
c.311C>A (p.Ala104Glu)
n.759C>A
17g.63488723C=CA2269945963ACEc.2381C= (p.Ala794=)
c.659C= (p.Ala220=)
c.*451C= (n.*451C=)
c.640C= (n.640C=)
c.*110C= (n.*110C=)
c.*301C= (n.*301C=)
c.149C= (p.Ala50=)
n.327C=
c.1832C= (p.Ala611=)
c.719C= (p.Ala240=)
c.1814C= (p.Ala605=)
c.1529C= (p.Ala510=)
c.311C= (p.Ala104=)
n.759C=
17g.63488723C>GCA400557946ACEc.2381C>G (p.Ala794Gly)
c.659C>G (p.Ala220Gly)
c.*451C>G (n.*451C>G)
c.640C>G (n.640C>G)
c.*110C>G (n.*110C>G)
c.*301C>G (n.*301C>G)
c.149C>G (p.Ala50Gly)
n.327C>G
c.1832C>G (p.Ala611Gly)
c.719C>G (p.Ala240Gly)
c.1814C>G (p.Ala605Gly)
c.1529C>G (p.Ala510Gly)
c.311C>G (p.Ala104Gly)
n.759C>G
17g.63488723C>TCA8700079ACEc.2381C>T (p.Ala794Val)
c.659C>T (p.Ala220Val)
c.*451C>T (n.*451C>T)
c.640C>T (n.640C>T)
c.*110C>T (n.*110C>T)
c.*301C>T (n.*301C>T)
c.149C>T (p.Ala50Val)
n.327C>T
c.1832C>T (p.Ala611Val)
c.719C>T (p.Ala240Val)
c.1814C>T (p.Ala605Val)
c.1529C>T (p.Ala510Val)
c.311C>T (p.Ala104Val)
n.759C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63488724G>ACA8700080ACEc.2382G>A (p.Ala794=)
c.660G>A (p.Ala220=)
c.*452G>A (n.*452G>A)
c.641G>A (n.641G>A)
c.*111G>A (n.*111G>A)
c.*302G>A (n.*302G>A)
c.150G>A (p.Ala50=)
n.328G>A
c.1833G>A (p.Ala611=)
c.720G>A (p.Ala240=)
c.1815G>A (p.Ala605=)
c.1530G>A (p.Ala510=)
c.312G>A (p.Ala104=)
n.760G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488724G>CCA8700081ACEc.2382G>C (p.Ala794=)
c.660G>C (p.Ala220=)
c.*452G>C (n.*452G>C)
c.641G>C (n.641G>C)
c.*111G>C (n.*111G>C)
c.*302G>C (n.*302G>C)
c.150G>C (p.Ala50=)
n.328G>C
c.1833G>C (p.Ala611=)
c.720G>C (p.Ala240=)
c.1815G>C (p.Ala605=)
c.1530G>C (p.Ala510=)
c.312G>C (p.Ala104=)
n.760G>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63488724G=CA2269945964ACEc.2382G= (p.Ala794=)
c.660G= (p.Ala220=)
c.*452G= (n.*452G=)
c.641G= (n.641G=)
c.*111G= (n.*111G=)
c.*302G= (n.*302G=)
c.150G= (p.Ala50=)
n.328G=
c.1833G= (p.Ala611=)
c.720G= (p.Ala240=)
c.1815G= (p.Ala605=)
c.1530G= (p.Ala510=)
c.312G= (p.Ala104=)
n.760G=
17g.63488724G>TCA501187063ACEc.2382G>T (p.Ala794=)
c.660G>T (p.Ala220=)
c.*452G>T (n.*452G>T)
c.641G>T (n.641G>T)
c.*111G>T (n.*111G>T)
c.*302G>T (n.*302G>T)
c.150G>T (p.Ala50=)
n.328G>T
c.1833G>T (p.Ala611=)
c.720G>T (p.Ala240=)
c.1815G>T (p.Ala605=)
c.1530G>T (p.Ala510=)
c.312G>T (p.Ala104=)
n.760G>T
17g.63488725G>ACA400557947ACEc.2383G>A (p.Gly795Arg)
c.661G>A (p.Gly221Arg)
c.*453G>A (n.*453G>A)
c.642G>A (n.642G>A)
c.*112G>A (n.*112G>A)
c.*303G>A (n.*303G>A)
c.151G>A (p.Gly51Arg)
n.329G>A
c.1834G>A (p.Gly612Arg)
c.721G>A (p.Gly241Arg)
c.1816G>A (p.Gly606Arg)
c.1531G>A (p.Gly511Arg)
c.313G>A (p.Gly105Arg)
n.761G>A
dbSNP gnomAD v4
17g.63488725G>CCA400557948ACEc.2383G>C (p.Gly795Arg)
c.661G>C (p.Gly221Arg)
c.*453G>C (n.*453G>C)
c.642G>C (n.642G>C)
c.*112G>C (n.*112G>C)
c.*303G>C (n.*303G>C)
c.151G>C (p.Gly51Arg)
n.329G>C
c.1834G>C (p.Gly612Arg)
c.721G>C (p.Gly241Arg)
c.1816G>C (p.Gly606Arg)
c.1531G>C (p.Gly511Arg)
c.313G>C (p.Gly105Arg)
n.761G>C
17g.63488725G=CA2269945965ACEc.2383G= (p.Gly795=)
c.661G= (p.Gly221=)
c.*453G= (n.*453G=)
c.642G= (n.642G=)
c.*112G= (n.*112G=)
c.*303G= (n.*303G=)
c.151G= (p.Gly51=)
n.329G=
c.1834G= (p.Gly612=)
c.721G= (p.Gly241=)
c.1816G= (p.Gly606=)
c.1531G= (p.Gly511=)
c.313G= (p.Gly105=)
n.761G=
17g.63488725G>TCA400557949ACEc.2383G>T (p.Gly795Trp)
c.661G>T (p.Gly221Trp)
c.*453G>T (n.*453G>T)
c.642G>T (n.642G>T)
c.*112G>T (n.*112G>T)
c.*303G>T (n.*303G>T)
c.151G>T (p.Gly51Trp)
n.329G>T
c.1834G>T (p.Gly612Trp)
c.721G>T (p.Gly241Trp)
c.1816G>T (p.Gly606Trp)
c.1531G>T (p.Gly511Trp)
c.313G>T (p.Gly105Trp)
n.761G>T
17g.63488726G>ACA400557950ACEc.2384G>A (p.Gly795Glu)
c.662G>A (p.Gly221Glu)
c.*454G>A (n.*454G>A)
c.643G>A (n.643G>A)
c.*113G>A (n.*113G>A)
c.*304G>A (n.*304G>A)
c.152G>A (p.Gly51Glu)
n.330G>A
c.1835G>A (p.Gly612Glu)
c.722G>A (p.Gly241Glu)
c.1817G>A (p.Gly606Glu)
c.1532G>A (p.Gly511Glu)
c.314G>A (p.Gly105Glu)
n.762G>A
COSMIC COSMIC COSMIC
17g.63488726G>CCA400557952ACEc.2384G>C (p.Gly795Ala)
c.662G>C (p.Gly221Ala)
c.*454G>C (n.*454G>C)
c.643G>C (n.643G>C)
c.*113G>C (n.*113G>C)
c.*304G>C (n.*304G>C)
c.152G>C (p.Gly51Ala)
n.330G>C
c.1835G>C (p.Gly612Ala)
c.722G>C (p.Gly241Ala)
c.1817G>C (p.Gly606Ala)
c.1532G>C (p.Gly511Ala)
c.314G>C (p.Gly105Ala)
n.762G>C
17g.63488726G>TCA400557951ACEc.2384G>T (p.Gly795Val)
c.662G>T (p.Gly221Val)
c.*454G>T (n.*454G>T)
c.643G>T (n.643G>T)
c.*113G>T (n.*113G>T)
c.*304G>T (n.*304G>T)
c.152G>T (p.Gly51Val)
n.330G>T
c.1835G>T (p.Gly612Val)
c.722G>T (p.Gly241Val)
c.1817G>T (p.Gly606Val)
c.1532G>T (p.Gly511Val)
c.314G>T (p.Gly105Val)
n.762G>T
17g.63488727G>ACA501187089ACEc.2385G>A (p.Gly795=)
c.663G>A (p.Gly221=)
c.*455G>A (n.*455G>A)
c.644G>A (n.644G>A)
c.*114G>A (n.*114G>A)
c.*305G>A (n.*305G>A)
c.153G>A (p.Gly51=)
n.331G>A
c.1836G>A (p.Gly612=)
c.723G>A (p.Gly241=)
c.1818G>A (p.Gly606=)
c.1533G>A (p.Gly511=)
c.315G>A (p.Gly105=)
n.763G>A
dbSNP gnomAD v2 gnomAD v4
17g.63488727G>CCA501187097ACEc.2385G>C (p.Gly795=)
c.663G>C (p.Gly221=)
c.*455G>C (n.*455G>C)
c.644G>C (n.644G>C)
c.*114G>C (n.*114G>C)
c.*305G>C (n.*305G>C)
c.153G>C (p.Gly51=)
n.331G>C
c.1836G>C (p.Gly612=)
c.723G>C (p.Gly241=)
c.1818G>C (p.Gly606=)
c.1533G>C (p.Gly511=)
c.315G>C (p.Gly105=)
n.763G>C
17g.63488727G=CA2269945966ACEc.2385G= (p.Gly795=)
c.663G= (p.Gly221=)
c.*455G= (n.*455G=)
c.644G= (n.644G=)
c.*114G= (n.*114G=)
c.*305G= (n.*305G=)
c.153G= (p.Gly51=)
n.331G=
c.1836G= (p.Gly612=)
c.723G= (p.Gly241=)
c.1818G= (p.Gly606=)
c.1533G= (p.Gly511=)
c.315G= (p.Gly105=)
n.763G=
17g.63488727G>TCA501187091ACEc.2385G>T (p.Gly795=)
c.663G>T (p.Gly221=)
c.*455G>T (n.*455G>T)
c.644G>T (n.644G>T)
c.*114G>T (n.*114G>T)
c.*305G>T (n.*305G>T)
c.153G>T (p.Gly51=)
n.331G>T
c.1836G>T (p.Gly612=)
c.723G>T (p.Gly241=)
c.1818G>T (p.Gly606=)
c.1533G>T (p.Gly511=)
c.315G>T (p.Gly105=)
n.763G>T
17g.63488728A>CCA501187102ACEc.2386A>C (p.Arg796=)
c.664A>C (p.Arg222=)
c.*456A>C (n.*456A>C)
c.645A>C (n.645A>C)
c.*115A>C (n.*115A>C)
c.*306A>C (n.*306A>C)
c.154A>C (p.Arg52=)
n.332A>C
c.1837A>C (p.Arg613=)
c.724A>C (p.Arg242=)
c.1819A>C (p.Arg607=)
c.1534A>C (p.Arg512=)
c.316A>C (p.Arg106=)
n.764A>C
17g.63488728A>GCA400557953ACEc.2386A>G (p.Arg796Gly)
c.664A>G (p.Arg222Gly)
c.*456A>G (n.*456A>G)
c.645A>G (n.645A>G)
c.*115A>G (n.*115A>G)
c.*306A>G (n.*306A>G)
c.154A>G (p.Arg52Gly)
n.332A>G
c.1837A>G (p.Arg613Gly)
c.724A>G (p.Arg242Gly)
c.1819A>G (p.Arg607Gly)
c.1534A>G (p.Arg512Gly)
c.316A>G (p.Arg106Gly)
n.764A>G
17g.63488728A>TCA400557954ACEc.2386A>T (p.Arg796Ter)
c.664A>T (p.Arg222Ter)
c.*456A>T (n.*456A>T)
c.645A>T (n.645A>T)
c.*115A>T (n.*115A>T)
c.*306A>T (n.*306A>T)
c.154A>T (p.Arg52Ter)
n.332A>T
c.1837A>T (p.Arg613Ter)
c.724A>T (p.Arg242Ter)
c.1819A>T (p.Arg607Ter)
c.1534A>T (p.Arg512Ter)
c.316A>T (p.Arg106Ter)
n.764A>T
17g.63488729G>ACA400557955ACEc.2387G>A (p.Arg796Lys)
c.665G>A (p.Arg222Lys)
c.*457G>A (n.*457G>A)
c.646G>A (n.646G>A)
c.*116G>A (n.*116G>A)
c.*307G>A (n.*307G>A)
c.155G>A (p.Arg52Lys)
n.333G>A
c.1838G>A (p.Arg613Lys)
c.725G>A (p.Arg242Lys)
c.1820G>A (p.Arg607Lys)
c.1535G>A (p.Arg512Lys)
c.317G>A (p.Arg106Lys)
n.765G>A
dbSNP gnomAD v3 gnomAD v4
17g.63488729G>CCA400557956ACEc.2387G>C (p.Arg796Thr)
c.665G>C (p.Arg222Thr)
c.*457G>C (n.*457G>C)
c.646G>C (n.646G>C)
c.*116G>C (n.*116G>C)
c.*307G>C (n.*307G>C)
c.155G>C (p.Arg52Thr)
n.333G>C
c.1838G>C (p.Arg613Thr)
c.725G>C (p.Arg242Thr)
c.1820G>C (p.Arg607Thr)
c.1535G>C (p.Arg512Thr)
c.317G>C (p.Arg106Thr)
n.765G>C
gnomAD v4 COSMIC COSMIC
17g.63488729G=CA2269945967ACEc.2387G= (p.Arg796=)
c.665G= (p.Arg222=)
c.*457G= (n.*457G=)
c.646G= (n.646G=)
c.*116G= (n.*116G=)
c.*307G= (n.*307G=)
c.155G= (p.Arg52=)
n.333G=
c.1838G= (p.Arg613=)
c.725G= (p.Arg242=)
c.1820G= (p.Arg607=)
c.1535G= (p.Arg512=)
c.317G= (p.Arg106=)
n.765G=
17g.63488729G>TCA400557957ACEc.2387G>T (p.Arg796Ile)
c.665G>T (p.Arg222Ile)
c.*457G>T (n.*457G>T)
c.646G>T (n.646G>T)
c.*116G>T (n.*116G>T)
c.*307G>T (n.*307G>T)
c.155G>T (p.Arg52Ile)
n.333G>T
c.1838G>T (p.Arg613Ile)
c.725G>T (p.Arg242Ile)
c.1820G>T (p.Arg607Ile)
c.1535G>T (p.Arg512Ile)
c.317G>T (p.Arg106Ile)
n.765G>T
17g.63488730A>CCA400557958ACEc.2388A>C (p.Arg796Ser)
c.666A>C (p.Arg222Ser)
c.*458A>C (n.*458A>C)
c.647A>C (n.647A>C)
c.*117A>C (n.*117A>C)
c.*308A>C (n.*308A>C)
c.156A>C (p.Arg52Ser)
n.334A>C
c.1839A>C (p.Arg613Ser)
c.726A>C (p.Arg242Ser)
c.1821A>C (p.Arg607Ser)
c.1536A>C (p.Arg512Ser)
c.318A>C (p.Arg106Ser)
n.766A>C
17g.63488730A>GCA501187125ACEc.2388A>G (p.Arg796=)
c.666A>G (p.Arg222=)
c.*458A>G (n.*458A>G)
c.647A>G (n.647A>G)
c.*117A>G (n.*117A>G)
c.*308A>G (n.*308A>G)
c.156A>G (p.Arg52=)
n.334A>G
c.1839A>G (p.Arg613=)
c.726A>G (p.Arg242=)
c.1821A>G (p.Arg607=)
c.1536A>G (p.Arg512=)
c.318A>G (p.Arg106=)
n.766A>G
17g.63488730A>TCA400557959ACEc.2388A>T (p.Arg796Ser)
c.666A>T (p.Arg222Ser)
c.*458A>T (n.*458A>T)
c.647A>T (n.647A>T)
c.*117A>T (n.*117A>T)
c.*308A>T (n.*308A>T)
c.156A>T (p.Arg52Ser)
n.334A>T
c.1839A>T (p.Arg613Ser)
c.726A>T (p.Arg242Ser)
c.1821A>T (p.Arg607Ser)
c.1536A>T (p.Arg512Ser)
c.318A>T (p.Arg106Ser)
n.766A>T
17g.63488731G>ACA400557960ACEc.2389G>A (p.Ala797Thr)
c.667G>A (p.Ala223Thr)
c.*459G>A (n.*459G>A)
c.648G>A (n.648G>A)
c.*118G>A (n.*118G>A)
c.*309G>A (n.*309G>A)
c.157G>A (p.Ala53Thr)
n.335G>A
c.1840G>A (p.Ala614Thr)
c.727G>A (p.Ala243Thr)
c.1822G>A (p.Ala608Thr)
c.1537G>A (p.Ala513Thr)
c.319G>A (p.Ala107Thr)
n.767G>A
dbSNP gnomAD v2 gnomAD v4
17g.63488731G>CCA400557961ACEc.2389G>C (p.Ala797Pro)
c.667G>C (p.Ala223Pro)
c.*459G>C (n.*459G>C)
c.648G>C (n.648G>C)
c.*118G>C (n.*118G>C)
c.*309G>C (n.*309G>C)
c.157G>C (p.Ala53Pro)
n.335G>C
c.1840G>C (p.Ala614Pro)
c.727G>C (p.Ala243Pro)
c.1822G>C (p.Ala608Pro)
c.1537G>C (p.Ala513Pro)
c.319G>C (p.Ala107Pro)
n.767G>C
17g.63488731G=CA2269945968ACEc.2389G= (p.Ala797=)
c.667G= (p.Ala223=)
c.*459G= (n.*459G=)
c.648G= (n.648G=)
c.*118G= (n.*118G=)
c.*309G= (n.*309G=)
c.157G= (p.Ala53=)
n.335G=
c.1840G= (p.Ala614=)
c.727G= (p.Ala243=)
c.1822G= (p.Ala608=)
c.1537G= (p.Ala513=)
c.319G= (p.Ala107=)
n.767G=
17g.63488731G>TCA400557962ACEc.2389G>T (p.Ala797Ser)
c.667G>T (p.Ala223Ser)
c.*459G>T (n.*459G>T)
c.648G>T (n.648G>T)
c.*118G>T (n.*118G>T)
c.*309G>T (n.*309G>T)
c.157G>T (p.Ala53Ser)
n.335G>T
c.1840G>T (p.Ala614Ser)
c.727G>T (p.Ala243Ser)
c.1822G>T (p.Ala608Ser)
c.1537G>T (p.Ala513Ser)
c.319G>T (p.Ala107Ser)
n.767G>T
gnomAD v4
17g.63488732C>ACA400557963ACEc.2390C>A (p.Ala797Asp)
c.668C>A (p.Ala223Asp)
c.*460C>A (n.*460C>A)
c.649C>A (n.649C>A)
c.*119C>A (n.*119C>A)
c.*310C>A (n.*310C>A)
c.158C>A (p.Ala53Asp)
n.336C>A
c.1841C>A (p.Ala614Asp)
c.728C>A (p.Ala243Asp)
c.1823C>A (p.Ala608Asp)
c.1538C>A (p.Ala513Asp)
c.320C>A (p.Ala107Asp)
n.768C>A
17g.63488732C=CA2269945969ACEc.2390C= (p.Ala797=)
c.668C= (p.Ala223=)
c.*460C= (n.*460C=)
c.649C= (n.649C=)
c.*119C= (n.*119C=)
c.*310C= (n.*310C=)
c.158C= (p.Ala53=)
n.336C=
c.1841C= (p.Ala614=)
c.728C= (p.Ala243=)
c.1823C= (p.Ala608=)
c.1538C= (p.Ala513=)
c.320C= (p.Ala107=)
n.768C=
17g.63488732C>GCA400557964ACEc.2390C>G (p.Ala797Gly)
c.668C>G (p.Ala223Gly)
c.*460C>G (n.*460C>G)
c.649C>G (n.649C>G)
c.*119C>G (n.*119C>G)
c.*310C>G (n.*310C>G)
c.158C>G (p.Ala53Gly)
n.336C>G
c.1841C>G (p.Ala614Gly)
c.728C>G (p.Ala243Gly)
c.1823C>G (p.Ala608Gly)
c.1538C>G (p.Ala513Gly)
c.320C>G (p.Ala107Gly)
n.768C>G
17g.63488732C>TCA400557965ACEc.2390C>T (p.Ala797Val)
c.668C>T (p.Ala223Val)
c.*460C>T (n.*460C>T)
c.649C>T (n.649C>T)
c.*119C>T (n.*119C>T)
c.*310C>T (n.*310C>T)
c.158C>T (p.Ala53Val)
n.336C>T
c.1841C>T (p.Ala614Val)
c.728C>T (p.Ala243Val)
c.1823C>T (p.Ala608Val)
c.1538C>T (p.Ala513Val)
c.320C>T (p.Ala107Val)
n.768C>T
dbSNP gnomAD v4
17g.63488733C>ACA501187148ACEc.2391C>A (p.Ala797=)
c.669C>A (p.Ala223=)
c.*461C>A (n.*461C>A)
c.650C>A (n.650C>A)
c.*120C>A (n.*120C>A)
c.*311C>A (n.*311C>A)
c.159C>A (p.Ala53=)
n.337C>A
c.1842C>A (p.Ala614=)
c.729C>A (p.Ala243=)
c.1824C>A (p.Ala608=)
c.1539C>A (p.Ala513=)
c.321C>A (p.Ala107=)
n.769C>A
17g.63488733C>GCA501187149ACEc.2391C>G (p.Ala797=)
c.669C>G (p.Ala223=)
c.*461C>G (n.*461C>G)
c.650C>G (n.650C>G)
c.*120C>G (n.*120C>G)
c.*311C>G (n.*311C>G)
c.159C>G (p.Ala53=)
n.337C>G
c.1842C>G (p.Ala614=)
c.729C>G (p.Ala243=)
c.1824C>G (p.Ala608=)
c.1539C>G (p.Ala513=)
c.321C>G (p.Ala107=)
n.769C>G
17g.63488733C>TCA501187151ACEc.2391C>T (p.Ala797=)
c.669C>T (p.Ala223=)
c.*461C>T (n.*461C>T)
c.650C>T (n.650C>T)
c.*120C>T (n.*120C>T)
c.*311C>T (n.*311C>T)
c.159C>T (p.Ala53=)
n.337C>T
c.1842C>T (p.Ala614=)
c.729C>T (p.Ala243=)
c.1824C>T (p.Ala608=)
c.1539C>T (p.Ala513=)
c.321C>T (p.Ala107=)
n.769C>T
17g.63488734A=CA2269945970ACEc.2392A= (p.Ile798=)
c.670A= (p.Ile224=)
c.*462A= (n.*462A=)
c.651A= (n.651A=)
c.*121A= (n.*121A=)
c.*312A= (n.*312A=)
c.160A= (p.Ile54=)
n.338A=
c.1843A= (p.Ile615=)
c.730A= (p.Ile244=)
c.1825A= (p.Ile609=)
c.1540A= (p.Ile514=)
c.322A= (p.Ile108=)
n.770A=
17g.63488734A>CCA400557966ACEc.2392A>C (p.Ile798Leu)
c.670A>C (p.Ile224Leu)
c.*462A>C (n.*462A>C)
c.651A>C (n.651A>C)
c.*121A>C (n.*121A>C)
c.*312A>C (n.*312A>C)
c.160A>C (p.Ile54Leu)
n.338A>C
c.1843A>C (p.Ile615Leu)
c.730A>C (p.Ile244Leu)
c.1825A>C (p.Ile609Leu)
c.1540A>C (p.Ile514Leu)
c.322A>C (p.Ile108Leu)
n.770A>C
dbSNP
17g.63488734A>GCA8700082ACEc.2392A>G (p.Ile798Val)
c.670A>G (p.Ile224Val)
c.*462A>G (n.*462A>G)
c.651A>G (n.651A>G)
c.*121A>G (n.*121A>G)
c.*312A>G (n.*312A>G)
c.160A>G (p.Ile54Val)
n.338A>G
c.1843A>G (p.Ile615Val)
c.730A>G (p.Ile244Val)
c.1825A>G (p.Ile609Val)
c.1540A>G (p.Ile514Val)
c.322A>G (p.Ile108Val)
n.770A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488734A>TCA400557967ACEc.2392A>T (p.Ile798Phe)
c.670A>T (p.Ile224Phe)
c.*462A>T (n.*462A>T)
c.651A>T (n.651A>T)
c.*121A>T (n.*121A>T)
c.*312A>T (n.*312A>T)
c.160A>T (p.Ile54Phe)
n.338A>T
c.1843A>T (p.Ile615Phe)
c.730A>T (p.Ile244Phe)
c.1825A>T (p.Ile609Phe)
c.1540A>T (p.Ile514Phe)
c.322A>T (p.Ile108Phe)
n.770A>T
gnomAD v4
17g.63488734_63488737delinsATCCCA2269945971ACEc.2392_2395delinsATCC (p.Ile798=)
c.670_673delinsATCC (p.Ile224=)
c.*462_*465delinsATCC (n.*462_*465delinsATCC)
c.651_654delinsATCC (n.651_654delinsATCC)
c.*121_*124delinsATCC (n.*121_*124delinsATCC)
c.*312_*315delinsATCC (n.*312_*315delinsATCC)
c.160_163delinsATCC (p.Ile54=)
n.338_341delinsATCC
c.1843_1846delinsATCC (p.Ile615=)
c.730_733delinsATCC (p.Ile244=)
c.1825_1828delinsATCC (p.Ile609=)
c.1540_1543delinsATCC (p.Ile514=)
c.322_325delinsATCC (p.Ile108=)
n.770_773delinsATCC
17g.63488735T>ACA400557968ACEc.2393T>A (p.Ile798Asn)
c.671T>A (p.Ile224Asn)
c.*463T>A (n.*463T>A)
c.652T>A (n.652T>A)
c.*122T>A (n.*122T>A)
c.*313T>A (n.*313T>A)
c.161T>A (p.Ile54Asn)
n.339T>A
c.1844T>A (p.Ile615Asn)
c.731T>A (p.Ile244Asn)
c.1826T>A (p.Ile609Asn)
c.1541T>A (p.Ile514Asn)
c.323T>A (p.Ile108Asn)
n.771T>A
17g.63488735T>CCA400557969ACEc.2393T>C (p.Ile798Thr)
c.671T>C (p.Ile224Thr)
c.*463T>C (n.*463T>C)
c.652T>C (n.652T>C)
c.*122T>C (n.*122T>C)
c.*313T>C (n.*313T>C)
c.161T>C (p.Ile54Thr)
n.339T>C
c.1844T>C (p.Ile615Thr)
c.731T>C (p.Ile244Thr)
c.1826T>C (p.Ile609Thr)
c.1541T>C (p.Ile514Thr)
c.323T>C (p.Ile108Thr)
n.771T>C
17g.63488735T>GCA400557970ACEc.2393T>G (p.Ile798Ser)
c.671T>G (p.Ile224Ser)
c.*463T>G (n.*463T>G)
c.652T>G (n.652T>G)
c.*122T>G (n.*122T>G)
c.*313T>G (n.*313T>G)
c.161T>G (p.Ile54Ser)
n.339T>G
c.1844T>G (p.Ile615Ser)
c.731T>G (p.Ile244Ser)
c.1826T>G (p.Ile609Ser)
c.1541T>G (p.Ile514Ser)
c.323T>G (p.Ile108Ser)
n.771T>G
17g.63488738_63488740delCA8700083ACEc.2396_2398del (p.Leu799del)
c.674_676del (p.Leu225del)
c.*466_*468del (n.*466_*468del)
c.655_657del (n.655_657del)
c.*125_*127del (n.*125_*127del)
c.*316_*318del (n.*316_*318del)
c.164_166del (p.Leu55del)
n.342_344del
c.1847_1849del (p.Leu616del)
c.734_736del (p.Leu245del)
c.1829_1831del (p.Leu610del)
c.1544_1546del (p.Leu515del)
c.326_328del (p.Leu109del)
n.774_776del
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63488736C>ACA501187189ACEc.2394C>A (p.Ile798=)
c.672C>A (p.Ile224=)
c.*464C>A (n.*464C>A)
c.653C>A (n.653C>A)
c.*123C>A (n.*123C>A)
c.*314C>A (n.*314C>A)
c.162C>A (p.Ile54=)
n.340C>A
c.1845C>A (p.Ile615=)
c.732C>A (p.Ile244=)
c.1827C>A (p.Ile609=)
c.1542C>A (p.Ile514=)
c.324C>A (p.Ile108=)
n.772C>A
17g.63488736C=CA2269945972ACEc.2394C= (p.Ile798=)
c.672C= (p.Ile224=)
c.*464C= (n.*464C=)
c.653C= (n.653C=)
c.*123C= (n.*123C=)
c.*314C= (n.*314C=)
c.162C= (p.Ile54=)
n.340C=
c.1845C= (p.Ile615=)
c.732C= (p.Ile244=)
c.1827C= (p.Ile609=)
c.1542C= (p.Ile514=)
c.324C= (p.Ile108=)
n.772C=
17g.63488736C>GCA400557971ACEc.2394C>G (p.Ile798Met)
c.672C>G (p.Ile224Met)
c.*464C>G (n.*464C>G)
c.653C>G (n.653C>G)
c.*123C>G (n.*123C>G)
c.*314C>G (n.*314C>G)
c.162C>G (p.Ile54Met)
n.340C>G
c.1845C>G (p.Ile615Met)
c.732C>G (p.Ile244Met)
c.1827C>G (p.Ile609Met)
c.1542C>G (p.Ile514Met)
c.324C>G (p.Ile108Met)
n.772C>G
17g.63488736C>TCA501187183ACEc.2394C>T (p.Ile798=)
c.672C>T (p.Ile224=)
c.*464C>T (n.*464C>T)
c.653C>T (n.653C>T)
c.*123C>T (n.*123C>T)
c.*314C>T (n.*314C>T)
c.162C>T (p.Ile54=)
n.340C>T
c.1845C>T (p.Ile615=)
c.732C>T (p.Ile244=)
c.1827C>T (p.Ile609=)
c.1542C>T (p.Ile514=)
c.324C>T (p.Ile108=)
n.772C>T
dbSNP

Number of alleles fetched