Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.235806645_235806646delCA2651137532LYSTc.2491_2492del (p.Gln831GlufsTer9)
c.1894_1895del (p.Gln632GlufsTer9)
n.3042_3043del
c.154_155del (p.Gln52GlufsTer9)
n.2673_2674del
gnomAD v4
1g.235806646T>ACA344956994LYSTc.2490A>T (p.Gln830His)
c.1893A>T (p.Gln631His)
n.3041A>T
c.153A>T (p.Gln51His)
n.2672A>T
1g.235806646T>CCA424027647LYSTc.2490A>G (p.Gln830=)
c.1893A>G (p.Gln631=)
n.3041A>G
c.153A>G (p.Gln51=)
n.2672A>G
1g.235806646T>GCA344956996LYSTc.2490A>C (p.Gln830His)
c.1893A>C (p.Gln631His)
n.3041A>C
c.153A>C (p.Gln51His)
n.2672A>C
1g.235806647T>ACA344957002LYSTc.2489A>T (p.Gln830Leu)
c.1892A>T (p.Gln631Leu)
n.3040A>T
c.152A>T (p.Gln51Leu)
n.2671A>T
1g.235806647T>CCA344956998LYSTc.2489A>G (p.Gln830Arg)
c.1892A>G (p.Gln631Arg)
n.3040A>G
c.152A>G (p.Gln51Arg)
n.2671A>G
1g.235806647T>GCA344957000LYSTc.2489A>C (p.Gln830Pro)
c.1892A>C (p.Gln631Pro)
n.3040A>C
c.152A>C (p.Gln51Pro)
n.2671A>C
1g.235806648G>ACA344957004LYSTc.2488C>T (p.Gln830Ter)
c.1891C>T (p.Gln631Ter)
n.3039C>T
c.151C>T (p.Gln51Ter)
n.2670C>T
1g.235806648G>CCA344957006LYSTc.2488C>G (p.Gln830Glu)
c.1891C>G (p.Gln631Glu)
n.3039C>G
c.151C>G (p.Gln51Glu)
n.2670C>G
gnomAD v4
1g.235806648G>TCA344957007LYSTc.2488C>A (p.Gln830Lys)
c.1891C>A (p.Gln631Lys)
n.3039C>A
c.151C>A (p.Gln51Lys)
n.2670C>A
1g.235806649C>ACA344957009LYSTc.2487G>T (p.Glu829Asp)
c.1890G>T (p.Glu630Asp)
n.3038G>T
c.150G>T (p.Glu50Asp)
n.2669G>T
1g.235806649C=CA2486650263LYSTc.2487G= (p.Glu829=)
c.1890G= (p.Glu630=)
n.3038G=
c.150G= (p.Glu50=)
n.2669G=
1g.235806649C>GCA344957011LYSTc.2487G>C (p.Glu829Asp)
c.1890G>C (p.Glu630Asp)
n.3038G>C
c.150G>C (p.Glu50Asp)
n.2669G>C
1g.235806649C>TCA1467266LYSTc.2487G>A (p.Glu829=)
c.1890G>A (p.Glu630=)
n.3038G>A
c.150G>A (p.Glu50=)
n.2669G>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806650T>ACA344957015LYSTc.2486A>T (p.Glu829Val)
c.1889A>T (p.Glu630Val)
n.3037A>T
c.149A>T (p.Glu50Val)
n.2668A>T
1g.235806650T>CCA344957016LYSTc.2486A>G (p.Glu829Gly)
c.1889A>G (p.Glu630Gly)
n.3037A>G
c.149A>G (p.Glu50Gly)
n.2668A>G
1g.235806650T>GCA344957017LYSTc.2486A>C (p.Glu829Ala)
c.1889A>C (p.Glu630Ala)
n.3037A>C
c.149A>C (p.Glu50Ala)
n.2668A>C
1g.235806651C>ACA344957020LYSTc.2485G>T (p.Glu829Ter)
c.1888G>T (p.Glu630Ter)
n.3036G>T
c.148G>T (p.Glu50Ter)
n.2667G>T
1g.235806651C>GCA344957022LYSTc.2485G>C (p.Glu829Gln)
c.1888G>C (p.Glu630Gln)
n.3036G>C
c.148G>C (p.Glu50Gln)
n.2667G>C
gnomAD v4
1g.235806651C>TCA344957024LYSTc.2485G>A (p.Glu829Lys)
c.1888G>A (p.Glu630Lys)
n.3036G>A
c.148G>A (p.Glu50Lys)
n.2667G>A
1g.235806652C>ACA424027655LYSTc.2484G>T (p.Gly828=)
c.1887G>T (p.Gly629=)
n.3035G>T
c.147G>T (p.Gly49=)
n.2666G>T
1g.235806652C>GCA424027656LYSTc.2484G>C (p.Gly828=)
c.1887G>C (p.Gly629=)
n.3035G>C
c.147G>C (p.Gly49=)
n.2666G>C
1g.235806652C>TCA424027657LYSTc.2484G>A (p.Gly828=)
c.1887G>A (p.Gly629=)
n.3035G>A
c.147G>A (p.Gly49=)
n.2666G>A
ClinVar gnomAD v4
1g.235806653C>ACA344957030LYSTc.2483G>T (p.Gly828Val)
c.1886G>T (p.Gly629Val)
n.3034G>T
c.146G>T (p.Gly49Val)
n.2665G>T
1g.235806653C=CA2486650264LYSTc.2483G= (p.Gly828=)
c.1886G= (p.Gly629=)
n.3034G=
c.146G= (p.Gly49=)
n.2665G=
1g.235806653C>GCA344957029LYSTc.2483G>C (p.Gly828Ala)
c.1886G>C (p.Gly629Ala)
n.3034G>C
c.146G>C (p.Gly49Ala)
n.2665G>C
1g.235806653C>TCA344957026LYSTc.2483G>A (p.Gly828Glu)
c.1886G>A (p.Gly629Glu)
n.3034G>A
c.146G>A (p.Gly49Glu)
n.2665G>A
dbSNP gnomAD v4
1g.235806654C>ACA344957033LYSTc.2482G>T (p.Gly828Trp)
c.1885G>T (p.Gly629Trp)
n.3033G>T
c.145G>T (p.Gly49Trp)
n.2664G>T
1g.235806654C=CA2486650265LYSTc.2482G= (p.Gly828=)
c.1885G= (p.Gly629=)
n.3033G=
c.145G= (p.Gly49=)
n.2664G=
1g.235806654C>GCA344957036LYSTc.2482G>C (p.Gly828Arg)
c.1885G>C (p.Gly629Arg)
n.3033G>C
c.145G>C (p.Gly49Arg)
n.2664G>C
1g.235806654C>TCA344957034LYSTc.2482G>A (p.Gly828Arg)
c.1885G>A (p.Gly629Arg)
n.3033G>A
c.145G>A (p.Gly49Arg)
n.2664G>A
dbSNP gnomAD v3 gnomAD v4
1g.235806655T>ACA424027662LYSTc.2481A>T (p.Leu827=)
c.1884A>T (p.Leu628=)
n.3032A>T
c.144A>T (p.Leu48=)
n.2663A>T
1g.235806655T>CCA1467267LYSTc.2481A>G (p.Leu827=)
c.1884A>G (p.Leu628=)
n.3032A>G
c.144A>G (p.Leu48=)
n.2663A>G
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806655T>GCA424027663LYSTc.2481A>C (p.Leu827=)
c.1884A>C (p.Leu628=)
n.3032A>C
c.144A>C (p.Leu48=)
n.2663A>C
1g.235806655T=CA2486650266LYSTc.2481A= (p.Leu827=)
c.1884A= (p.Leu628=)
n.3032A=
c.144A= (p.Leu48=)
n.2663A=
1g.235806656A=CA1142908835LYSTc.2480T= (p.Leu827=)
c.1883T= (p.Leu628=)
n.3031T=
c.143T= (p.Leu48=)
n.2662T=
1g.235806656A>CCA344957042LYSTc.2480T>G (p.Leu827Arg)
c.1883T>G (p.Leu628Arg)
n.3031T>G
c.143T>G (p.Leu48Arg)
n.2662T>G
1g.235806656A>GCA344957044LYSTc.2480T>C (p.Leu827Pro)
c.1883T>C (p.Leu628Pro)
n.3031T>C
c.143T>C (p.Leu48Pro)
n.2662T>C
gnomAD v4
1g.235806656A>TCA1467268LYSTc.2480T>A (p.Leu827Gln)
c.1883T>A (p.Leu628Gln)
n.3031T>A
c.143T>A (p.Leu48Gln)
n.2662T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806657G>ACA424027668LYSTc.2479C>T (p.Leu827=)
c.1882C>T (p.Leu628=)
n.3030C>T
c.142C>T (p.Leu48=)
n.2661C>T
1g.235806657G>CCA344957047LYSTc.2479C>G (p.Leu827Val)
c.1882C>G (p.Leu628Val)
n.3030C>G
c.142C>G (p.Leu48Val)
n.2661C>G
dbSNP gnomAD v3 gnomAD v4
1g.235806657G=CA2486650267LYSTc.2479C= (p.Leu827=)
c.1882C= (p.Leu628=)
n.3030C=
c.142C= (p.Leu48=)
n.2661C=
1g.235806657G>TCA344957048LYSTc.2479C>A (p.Leu827Ile)
c.1882C>A (p.Leu628Ile)
n.3030C>A
c.142C>A (p.Leu48Ile)
n.2661C>A
1g.235806658G>ACA424027669LYSTc.2478C>T (p.Ser826=)
c.1881C>T (p.Ser627=)
n.3029C>T
c.141C>T (p.Ser47=)
n.2660C>T
ClinVar
1g.235806658G>CCA344957050LYSTc.2478C>G (p.Ser826Arg)
c.1881C>G (p.Ser627Arg)
n.3029C>G
c.141C>G (p.Ser47Arg)
n.2660C>G
ClinVar
1g.235806658G>TCA344957052LYSTc.2478C>A (p.Ser826Arg)
c.1881C>A (p.Ser627Arg)
n.3029C>A
c.141C>A (p.Ser47Arg)
n.2660C>A
1g.235806659C>ACA344957055LYSTc.2477G>T (p.Ser826Ile)
c.1880G>T (p.Ser627Ile)
n.3028G>T
c.140G>T (p.Ser47Ile)
n.2659G>T
1g.235806659C>GCA344957056LYSTc.2477G>C (p.Ser826Thr)
c.1880G>C (p.Ser627Thr)
n.3028G>C
c.140G>C (p.Ser47Thr)
n.2659G>C
1g.235806659C>TCA344957058LYSTc.2477G>A (p.Ser826Asn)
c.1880G>A (p.Ser627Asn)
n.3028G>A
c.140G>A (p.Ser47Asn)
n.2659G>A
COSMIC
1g.235806660T>ACA344957064LYSTc.2476A>T (p.Ser826Cys)
c.1879A>T (p.Ser627Cys)
n.3027A>T
c.139A>T (p.Ser47Cys)
n.2658A>T
1g.235806660T>CCA344957066LYSTc.2476A>G (p.Ser826Gly)
c.1879A>G (p.Ser627Gly)
n.3027A>G
c.139A>G (p.Ser47Gly)
n.2658A>G
1g.235806660T>GCA344957067LYSTc.2476A>C (p.Ser826Arg)
c.1879A>C (p.Ser627Arg)
n.3027A>C
c.139A>C (p.Ser47Arg)
n.2658A>C
1g.235806661G>ACA424027677LYSTc.2475C>T (p.Ile825=)
c.1878C>T (p.Ile626=)
n.3026C>T
c.138C>T (p.Ile46=)
n.2657C>T
1g.235806661G>CCA344957069LYSTc.2475C>G (p.Ile825Met)
c.1878C>G (p.Ile626Met)
n.3026C>G
c.138C>G (p.Ile46Met)
n.2657C>G
1g.235806661G=CA2486650268LYSTc.2475C= (p.Ile825=)
c.1878C= (p.Ile626=)
n.3026C=
c.138C= (p.Ile46=)
n.2657C=
1g.235806661G>TCA424027675LYSTc.2475C>A (p.Ile825=)
c.1878C>A (p.Ile626=)
n.3026C>A
c.138C>A (p.Ile46=)
n.2657C>A
dbSNP gnomAD v2 gnomAD v4
1g.235806662A=CA2486650269LYSTc.2474T= (p.Ile825=)
c.1877T= (p.Ile626=)
n.3025T=
c.137T= (p.Ile46=)
n.2656T=
1g.235806662A>CCA344957073LYSTc.2474T>G (p.Ile825Ser)
c.1877T>G (p.Ile626Ser)
n.3025T>G
c.137T>G (p.Ile46Ser)
n.2656T>G
1g.235806662A>GCA1467269LYSTc.2474T>C (p.Ile825Thr)
c.1877T>C (p.Ile626Thr)
n.3025T>C
c.137T>C (p.Ile46Thr)
n.2656T>C
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806662A>TCA344957076LYSTc.2474T>A (p.Ile825Asn)
c.1877T>A (p.Ile626Asn)
n.3025T>A
c.137T>A (p.Ile46Asn)
n.2656T>A
1g.235806663T>ACA344957077LYSTc.2473A>T (p.Ile825Phe)
c.1876A>T (p.Ile626Phe)
n.3024A>T
c.136A>T (p.Ile46Phe)
n.2655A>T
1g.235806663T>CCA344957079LYSTc.2473A>G (p.Ile825Val)
c.1876A>G (p.Ile626Val)
n.3024A>G
c.136A>G (p.Ile46Val)
n.2655A>G
dbSNP
1g.235806663T>GCA344957081LYSTc.2473A>C (p.Ile825Leu)
c.1876A>C (p.Ile626Leu)
n.3024A>C
c.136A>C (p.Ile46Leu)
n.2655A>C
1g.235806664T>ACA424027683LYSTc.2472A>T (p.Ile824=)
c.1875A>T (p.Ile625=)
n.3023A>T
c.135A>T (p.Ile45=)
n.2654A>T
1g.235806664T>CCA344957083LYSTc.2472A>G (p.Ile824Met)
c.1875A>G (p.Ile625Met)
n.3023A>G
c.135A>G (p.Ile45Met)
n.2654A>G
gnomAD v4
1g.235806664T>GCA424027685LYSTc.2472A>C (p.Ile824=)
c.1875A>C (p.Ile625=)
n.3023A>C
c.135A>C (p.Ile45=)
n.2654A>C
1g.235806665A=CA2486650270LYSTc.2471T= (p.Ile824=)
c.1874T= (p.Ile625=)
n.3022T=
c.134T= (p.Ile45=)
n.2653T=
1g.235806665A>CCA344957085LYSTc.2471T>G (p.Ile824Arg)
c.1874T>G (p.Ile625Arg)
n.3022T>G
c.134T>G (p.Ile45Arg)
n.2653T>G
1g.235806665A>GCA344957087LYSTc.2471T>C (p.Ile824Thr)
c.1874T>C (p.Ile625Thr)
n.3022T>C
c.134T>C (p.Ile45Thr)
n.2653T>C
dbSNP
1g.235806665A>TCA344957089LYSTc.2471T>A (p.Ile824Lys)
c.1874T>A (p.Ile625Lys)
n.3022T>A
c.134T>A (p.Ile45Lys)
n.2653T>A
1g.235806666T>ACA344957090LYSTc.2470A>T (p.Ile824Leu)
c.1873A>T (p.Ile625Leu)
n.3021A>T
c.133A>T (p.Ile45Leu)
n.2652A>T
1g.235806666T>CCA344957092LYSTc.2470A>G (p.Ile824Val)
c.1873A>G (p.Ile625Val)
n.3021A>G
c.133A>G (p.Ile45Val)
n.2652A>G
dbSNP gnomAD v3 gnomAD v4
1g.235806666T>GCA39616395LYSTc.2470A>C (p.Ile824Leu)
c.1873A>C (p.Ile625Leu)
n.3021A>C
c.133A>C (p.Ile45Leu)
n.2652A>C
dbSNP
1g.235806666T=CA2486650271LYSTc.2470A= (p.Ile824=)
c.1873A= (p.Ile625=)
n.3021A=
c.133A= (p.Ile45=)
n.2652A=
1g.235806667C>ACA424027696LYSTc.2469G>T (p.Leu823=)
c.1872G>T (p.Leu624=)
n.3020G>T
c.132G>T (p.Leu44=)
n.2651G>T
1g.235806667C=CA2486650272LYSTc.2469G= (p.Leu823=)
c.1872G= (p.Leu624=)
n.3020G=
c.132G= (p.Leu44=)
n.2651G=
1g.235806667C>GCA424027694LYSTc.2469G>C (p.Leu823=)
c.1872G>C (p.Leu624=)
n.3020G>C
c.132G>C (p.Leu44=)
n.2651G>C
1g.235806667C>TCA424027690LYSTc.2469G>A (p.Leu823=)
c.1872G>A (p.Leu624=)
n.3020G>A
c.132G>A (p.Leu44=)
n.2651G>A
ClinVar dbSNP
1g.235806668A>CCA344957095LYSTc.2468T>G (p.Leu823Arg)
c.1871T>G (p.Leu624Arg)
n.3019T>G
c.131T>G (p.Leu44Arg)
n.2650T>G
1g.235806668A>GCA344957099LYSTc.2468T>C (p.Leu823Pro)
c.1871T>C (p.Leu624Pro)
n.3019T>C
c.131T>C (p.Leu44Pro)
n.2650T>C
1g.235806668A>TCA344957097LYSTc.2468T>A (p.Leu823Gln)
c.1871T>A (p.Leu624Gln)
n.3019T>A
c.131T>A (p.Leu44Gln)
n.2650T>A
1g.235806670_235806671delCA2748227981LYSTc.2467_2468del (p.Leu823AspfsTer17)
c.1870_1871del (p.Leu624AspfsTer17)
n.3018_3019del
c.130_131del (p.Leu44AspfsTer17)
n.2649_2650del
1g.235806669G>ACA424027699LYSTc.2467C>T (p.Leu823=)
c.1870C>T (p.Leu624=)
n.3018C>T
c.130C>T (p.Leu44=)
n.2649C>T
1g.235806669G>CCA344957101LYSTc.2467C>G (p.Leu823Val)
c.1870C>G (p.Leu624Val)
n.3018C>G
c.130C>G (p.Leu44Val)
n.2649C>G
1g.235806669G>TCA344957103LYSTc.2467C>A (p.Leu823Met)
c.1870C>A (p.Leu624Met)
n.3018C>A
c.130C>A (p.Leu44Met)
n.2649C>A
1g.235806670A=CA2486650273LYSTc.2466T= (p.Thr822=)
c.1869T= (p.Thr623=)
n.3017T=
c.129T= (p.Thr43=)
n.2648T=
1g.235806670A>CCA424027702LYSTc.2466T>G (p.Thr822=)
c.1869T>G (p.Thr623=)
n.3017T>G
c.129T>G (p.Thr43=)
n.2648T>G
ClinVar dbSNP gnomAD v4
1g.235806670A>GCA424027703LYSTc.2466T>C (p.Thr822=)
c.1869T>C (p.Thr623=)
n.3017T>C
c.129T>C (p.Thr43=)
n.2648T>C
1g.235806670A>TCA424027705LYSTc.2466T>A (p.Thr822=)
c.1869T>A (p.Thr623=)
n.3017T>A
c.129T>A (p.Thr43=)
n.2648T>A
1g.235806671G>ACA1467270LYSTc.2465C>T (p.Thr822Ile)
c.1868C>T (p.Thr623Ile)
n.3016C>T
c.128C>T (p.Thr43Ile)
n.2647C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806671G>CCA344957107LYSTc.2465C>G (p.Thr822Ser)
c.1868C>G (p.Thr623Ser)
n.3016C>G
c.128C>G (p.Thr43Ser)
n.2647C>G
1g.235806671G=CA1143372684LYSTc.2465C= (p.Thr822=)
c.1868C= (p.Thr623=)
n.3016C=
c.128C= (p.Thr43=)
n.2647C=
1g.235806671G>TCA344957109LYSTc.2465C>A (p.Thr822Asn)
c.1868C>A (p.Thr623Asn)
n.3016C>A
c.128C>A (p.Thr43Asn)
n.2647C>A
1g.235806672T>ACA344957111LYSTc.2464A>T (p.Thr822Ser)
c.1867A>T (p.Thr623Ser)
n.3015A>T
c.127A>T (p.Thr43Ser)
n.2646A>T
1g.235806672T>CCA344957112LYSTc.2464A>G (p.Thr822Ala)
c.1867A>G (p.Thr623Ala)
n.3015A>G
c.127A>G (p.Thr43Ala)
n.2646A>G
1g.235806672T>GCA344957114LYSTc.2464A>C (p.Thr822Pro)
c.1867A>C (p.Thr623Pro)
n.3015A>C
c.127A>C (p.Thr43Pro)
n.2646A>C
1g.235806673T>ACA344957115LYSTc.2463A>T (p.Glu821Asp)
c.1866A>T (p.Glu622Asp)
n.3014A>T
c.126A>T (p.Glu42Asp)
n.2645A>T
1g.235806673T>CCA39616400LYSTc.2463A>G (p.Glu821=)
c.1866A>G (p.Glu622=)
n.3014A>G
c.126A>G (p.Glu42=)
n.2645A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806673T>GCA344957118LYSTc.2463A>C (p.Glu821Asp)
c.1866A>C (p.Glu622Asp)
n.3014A>C
c.126A>C (p.Glu42Asp)
n.2645A>C
1g.235806673T=CA1147623610LYSTc.2463A= (p.Glu821=)
c.1866A= (p.Glu622=)
n.3014A=
c.126A= (p.Glu42=)
n.2645A=
1g.235806674T>ACA344957125LYSTc.2462A>T (p.Glu821Val)
c.1865A>T (p.Glu622Val)
n.3013A>T
c.125A>T (p.Glu42Val)
n.2644A>T
1g.235806674T>CCA344957124LYSTc.2462A>G (p.Glu821Gly)
c.1865A>G (p.Glu622Gly)
n.3013A>G
c.125A>G (p.Glu42Gly)
n.2644A>G
1g.235806674T>GCA344957122LYSTc.2462A>C (p.Glu821Ala)
c.1865A>C (p.Glu622Ala)
n.3013A>C
c.125A>C (p.Glu42Ala)
n.2644A>C
gnomAD v4
1g.235806675C>ACA344957126LYSTc.2461G>T (p.Glu821Ter)
c.1864G>T (p.Glu622Ter)
n.3012G>T
c.124G>T (p.Glu42Ter)
n.2643G>T
1g.235806675C>GCA344957128LYSTc.2461G>C (p.Glu821Gln)
c.1864G>C (p.Glu622Gln)
n.3012G>C
c.124G>C (p.Glu42Gln)
n.2643G>C
1g.235806675C>TCA344957130LYSTc.2461G>A (p.Glu821Lys)
c.1864G>A (p.Glu622Lys)
n.3012G>A
c.124G>A (p.Glu42Lys)
n.2643G>A
1g.235806676A=CA1140562640LYSTc.2460T= (p.Phe820=)
c.1863T= (p.Phe621=)
n.3011T=
c.123T= (p.Phe41=)
n.2642T=
1g.235806676A>CCA1467271LYSTc.2460T>G (p.Phe820Leu)
c.1863T>G (p.Phe621Leu)
n.3011T>G
c.123T>G (p.Phe41Leu)
n.2642T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806676A>GCA424027716LYSTc.2460T>C (p.Phe820=)
c.1863T>C (p.Phe621=)
n.3011T>C
c.123T>C (p.Phe41=)
n.2642T>C
1g.235806676A>TCA344957133LYSTc.2460T>A (p.Phe820Leu)
c.1863T>A (p.Phe621Leu)
n.3011T>A
c.123T>A (p.Phe41Leu)
n.2642T>A
1g.235806677A>CCA344957135LYSTc.2459T>G (p.Phe820Cys)
c.1862T>G (p.Phe621Cys)
n.3010T>G
c.122T>G (p.Phe41Cys)
n.2641T>G
1g.235806677A>GCA344957137LYSTc.2459T>C (p.Phe820Ser)
c.1862T>C (p.Phe621Ser)
n.3010T>C
c.122T>C (p.Phe41Ser)
n.2641T>C
1g.235806677A>TCA344957139LYSTc.2459T>A (p.Phe820Tyr)
c.1862T>A (p.Phe621Tyr)
n.3010T>A
c.122T>A (p.Phe41Tyr)
n.2641T>A
1g.235806678A>CCA344957142LYSTc.2458T>G (p.Phe820Val)
c.1861T>G (p.Phe621Val)
n.3009T>G
c.121T>G (p.Phe41Val)
n.2640T>G
1g.235806678A>GCA344957144LYSTc.2458T>C (p.Phe820Leu)
c.1861T>C (p.Phe621Leu)
n.3009T>C
c.121T>C (p.Phe41Leu)
n.2640T>C
1g.235806678A>TCA344957145LYSTc.2458T>A (p.Phe820Ile)
c.1861T>A (p.Phe621Ile)
n.3009T>A
c.121T>A (p.Phe41Ile)
n.2640T>A
1g.235806679T>ACA424027725LYSTc.2457A>T (p.Ala819=)
c.1860A>T (p.Ala620=)
n.3008A>T
c.120A>T (p.Ala40=)
n.2639A>T
1g.235806679T>CCA39616404LYSTc.2457A>G (p.Ala819=)
c.1860A>G (p.Ala620=)
n.3008A>G
c.120A>G (p.Ala40=)
n.2639A>G
dbSNP gnomAD v4
1g.235806679T>GCA424027727LYSTc.2457A>C (p.Ala819=)
c.1860A>C (p.Ala620=)
n.3008A>C
c.120A>C (p.Ala40=)
n.2639A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806679T=CA1143728931LYSTc.2457A= (p.Ala819=)
c.1860A= (p.Ala620=)
n.3008A=
c.120A= (p.Ala40=)
n.2639A=
1g.235806680G>ACA344957155LYSTc.2456C>T (p.Ala819Val)
c.1859C>T (p.Ala620Val)
n.3007C>T
c.119C>T (p.Ala40Val)
n.2638C>T
1g.235806680G>CCA344957149LYSTc.2456C>G (p.Ala819Gly)
c.1859C>G (p.Ala620Gly)
n.3007C>G
c.119C>G (p.Ala40Gly)
n.2638C>G
1g.235806680G>TCA344957147LYSTc.2456C>A (p.Ala819Glu)
c.1859C>A (p.Ala620Glu)
n.3007C>A
c.119C>A (p.Ala40Glu)
n.2638C>A
1g.235806681C>ACA344957159LYSTc.2455G>T (p.Ala819Ser)
c.1858G>T (p.Ala620Ser)
n.3006G>T
c.118G>T (p.Ala40Ser)
n.2637G>T
1g.235806681C=CA1141782553LYSTc.2455G= (p.Ala819=)
c.1858G= (p.Ala620=)
n.3006G=
c.118G= (p.Ala40=)
n.2637G=
1g.235806681C>GCA344957157LYSTc.2455G>C (p.Ala819Pro)
c.1858G>C (p.Ala620Pro)
n.3006G>C
c.118G>C (p.Ala40Pro)
n.2637G>C
1g.235806681C>TCA1467272LYSTc.2455G>A (p.Ala819Thr)
c.1858G>A (p.Ala620Thr)
n.3006G>A
c.118G>A (p.Ala40Thr)
n.2637G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806681_235806682delinsCTCA2486650274LYSTc.2454_2455delinsAG (p.Lys818=)
c.1857_1858delinsAG (p.Lys619=)
n.3005_3006delinsAG
c.117_118delinsAG (p.Lys39=)
n.2636_2637delinsAG
1g.235806682T>ACA344957162LYSTc.2454A>T (p.Lys818Asn)
c.1857A>T (p.Lys619Asn)
n.3005A>T
c.117A>T (p.Lys39Asn)
n.2636A>T
1g.235806682T>CCA424027732LYSTc.2454A>G (p.Lys818=)
c.1857A>G (p.Lys619=)
n.3005A>G
c.117A>G (p.Lys39=)
n.2636A>G
1g.235806682T>GCA344957164LYSTc.2454A>C (p.Lys818Asn)
c.1857A>C (p.Lys619Asn)
n.3005A>C
c.117A>C (p.Lys39Asn)
n.2636A>C
1g.235806682_235806685delinsTTTTCA1141188443LYSTc.2451_2454delinsAAAA (p.Leu817=)
c.1854_1857delinsAAAA (p.Leu618=)
n.3002_3005delinsAAAA
c.114_117delinsAAAA (p.Leu38=)
n.2633_2636delinsAAAA
1g.235806685delCA344845LYSTc.2454del (p.Ala819HisfsTer5)
c.1857del (p.Ala620HisfsTer5)
n.3005del
c.117del (p.Ala40HisfsTer5)
n.2636del
ClinVar dbSNP gnomAD v4
1g.235806683T>ACA1467273LYSTc.2453A>T (p.Lys818Ile)
c.1856A>T (p.Lys619Ile)
n.3004A>T
c.116A>T (p.Lys39Ile)
n.2635A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806683T>CCA344957168LYSTc.2453A>G (p.Lys818Arg)
c.1856A>G (p.Lys619Arg)
n.3004A>G
c.116A>G (p.Lys39Arg)
n.2635A>G
1g.235806683T>GCA344957170LYSTc.2453A>C (p.Lys818Thr)
c.1856A>C (p.Lys619Thr)
n.3004A>C
c.116A>C (p.Lys39Thr)
n.2635A>C
1g.235806683T=CA1145171490LYSTc.2453A= (p.Lys818=)
c.1856A= (p.Lys619=)
n.3004A=
c.116A= (p.Lys39=)
n.2635A=
1g.235806684T>ACA344957172LYSTc.2452A>T (p.Lys818Ter)
c.1855A>T (p.Lys619Ter)
n.3003A>T
c.115A>T (p.Lys39Ter)
n.2634A>T
1g.235806684T>CCA344957174LYSTc.2452A>G (p.Lys818Glu)
c.1855A>G (p.Lys619Glu)
n.3003A>G
c.115A>G (p.Lys39Glu)
n.2634A>G
1g.235806684T>GCA344957176LYSTc.2452A>C (p.Lys818Gln)
c.1855A>C (p.Lys619Gln)
n.3003A>C
c.115A>C (p.Lys39Gln)
n.2634A>C
1g.235806685T>ACA424027737LYSTc.2451A>T (p.Leu817=)
c.1854A>T (p.Leu618=)
n.3002A>T
c.114A>T (p.Leu38=)
n.2633A>T
1g.235806685T>CCA1467274LYSTc.2451A>G (p.Leu817=)
c.1854A>G (p.Leu618=)
n.3002A>G
c.114A>G (p.Leu38=)
n.2633A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806685T>GCA424027738LYSTc.2451A>C (p.Leu817=)
c.1854A>C (p.Leu618=)
n.3002A>C
c.114A>C (p.Leu38=)
n.2633A>C
1g.235806685T=CA1146081562LYSTc.2451A= (p.Leu817=)
c.1854A= (p.Leu618=)
n.3002A=
c.114A= (p.Leu38=)
n.2633A=
1g.235806686A>CCA344957179LYSTc.2450T>G (p.Leu817Arg)
c.1853T>G (p.Leu618Arg)
n.3001T>G
c.113T>G (p.Leu38Arg)
n.2632T>G
1g.235806686A>GCA344957181LYSTc.2450T>C (p.Leu817Pro)
c.1853T>C (p.Leu618Pro)
n.3001T>C
c.113T>C (p.Leu38Pro)
n.2632T>C
1g.235806686A>TCA344957182LYSTc.2450T>A (p.Leu817Gln)
c.1853T>A (p.Leu618Gln)
n.3001T>A
c.113T>A (p.Leu38Gln)
n.2632T>A
1g.235806687G>ACA424027742LYSTc.2449C>T (p.Leu817=)
c.1852C>T (p.Leu618=)
n.3000C>T
c.112C>T (p.Leu38=)
n.2631C>T
1g.235806687G>CCA344957184LYSTc.2449C>G (p.Leu817Val)
c.1852C>G (p.Leu618Val)
n.3000C>G
c.112C>G (p.Leu38Val)
n.2631C>G
1g.235806687G>TCA344957186LYSTc.2449C>A (p.Leu817Ile)
c.1852C>A (p.Leu618Ile)
n.3000C>A
c.112C>A (p.Leu38Ile)
n.2631C>A
1g.235806688A>CCA424027743LYSTc.2448T>G (p.Ser816=)
c.1851T>G (p.Ser617=)
n.2999T>G
c.111T>G (p.Ser37=)
n.2630T>G
1g.235806688A>GCA424027744LYSTc.2448T>C (p.Ser816=)
c.1851T>C (p.Ser617=)
n.2999T>C
c.111T>C (p.Ser37=)
n.2630T>C
1g.235806688A>TCA424027746LYSTc.2448T>A (p.Ser816=)
c.1851T>A (p.Ser617=)
n.2999T>A
c.111T>A (p.Ser37=)
n.2630T>A
1g.235806689G>ACA344957188LYSTc.2447C>T (p.Ser816Phe)
c.1850C>T (p.Ser617Phe)
n.2998C>T
c.110C>T (p.Ser37Phe)
n.2629C>T
COSMIC
1g.235806689G>CCA344957191LYSTc.2447C>G (p.Ser816Cys)
c.1850C>G (p.Ser617Cys)
n.2998C>G
c.110C>G (p.Ser37Cys)
n.2629C>G
1g.235806689G>TCA344957193LYSTc.2447C>A (p.Ser816Tyr)
c.1850C>A (p.Ser617Tyr)
n.2998C>A
c.110C>A (p.Ser37Tyr)
n.2629C>A
1g.235806690A>CCA344957196LYSTc.2446T>G (p.Ser816Ala)
c.1849T>G (p.Ser617Ala)
n.2997T>G
c.109T>G (p.Ser37Ala)
n.2628T>G
1g.235806690A>GCA344957198LYSTc.2446T>C (p.Ser816Pro)
c.1849T>C (p.Ser617Pro)
n.2997T>C
c.109T>C (p.Ser37Pro)
n.2628T>C
1g.235806690A>TCA344957199LYSTc.2446T>A (p.Ser816Thr)
c.1849T>A (p.Ser617Thr)
n.2997T>A
c.109T>A (p.Ser37Thr)
n.2628T>A
1g.235806691A=CA2486650275LYSTc.2445T= (p.His815=)
c.1848T= (p.His616=)
n.2996T=
c.108T= (p.His36=)
n.2627T=
1g.235806691A>CCA344957201LYSTc.2445T>G (p.His815Gln)
c.1848T>G (p.His616Gln)
n.2996T>G
c.108T>G (p.His36Gln)
n.2627T>G
1g.235806691A>GCA424027755LYSTc.2445T>C (p.His815=)
c.1848T>C (p.His616=)
n.2996T>C
c.108T>C (p.His36=)
n.2627T>C
dbSNP gnomAD v2 gnomAD v4
1g.235806691A>TCA344957202LYSTc.2445T>A (p.His815Gln)
c.1848T>A (p.His616Gln)
n.2996T>A
c.108T>A (p.His36Gln)
n.2627T>A
1g.235806692T>ACA344957205LYSTc.2444A>T (p.His815Leu)
c.1847A>T (p.His616Leu)
n.2995A>T
c.107A>T (p.His36Leu)
n.2626A>T
dbSNP
1g.235806692T>CCA344957206LYSTc.2444A>G (p.His815Arg)
c.1847A>G (p.His616Arg)
n.2995A>G
c.107A>G (p.His36Arg)
n.2626A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806692T>GCA344957208LYSTc.2444A>C (p.His815Pro)
c.1847A>C (p.His616Pro)
n.2995A>C
c.107A>C (p.His36Pro)
n.2626A>C
1g.235806692T=CA2486650276LYSTc.2444A= (p.His815=)
c.1847A= (p.His616=)
n.2995A=
c.107A= (p.His36=)
n.2626A=
1g.235806693G>ACA1467275LYSTc.2443C>T (p.His815Tyr)
c.1846C>T (p.His616Tyr)
n.2994C>T
c.106C>T (p.His36Tyr)
n.2625C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806693G>CCA344957213LYSTc.2443C>G (p.His815Asp)
c.1846C>G (p.His616Asp)
n.2994C>G
c.106C>G (p.His36Asp)
n.2625C>G
1g.235806693G=CA1141825534LYSTc.2443C= (p.His815=)
c.1846C= (p.His616=)
n.2994C=
c.106C= (p.His36=)
n.2625C=
1g.235806693G>TCA344957210LYSTc.2443C>A (p.His815Asn)
c.1846C>A (p.His616Asn)
n.2994C>A
c.106C>A (p.His36Asn)
n.2625C>A
gnomAD v4
1g.235806694A=CA1144178428LYSTc.2442T= (p.Ser814=)
c.1845T= (p.Ser615=)
n.2993T=
c.105T= (p.Ser35=)
n.2624T=
1g.235806694A>CCA344957216LYSTc.2442T>G (p.Ser814Arg)
c.1845T>G (p.Ser615Arg)
n.2993T>G
c.105T>G (p.Ser35Arg)
n.2624T>G
gnomAD v4
1g.235806694A>GCA1467277LYSTc.2442T>C (p.Ser814=)
c.1845T>C (p.Ser615=)
n.2993T>C
c.105T>C (p.Ser35=)
n.2624T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806694A>TCA1467276LYSTc.2442T>A (p.Ser814Arg)
c.1845T>A (p.Ser615Arg)
n.2993T>A
c.105T>A (p.Ser35Arg)
n.2624T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806695C>ACA39616419LYSTc.2441G>T (p.Ser814Ile)
c.1844G>T (p.Ser615Ile)
n.2992G>T
c.104G>T (p.Ser35Ile)
n.2623G>T
dbSNP
1g.235806695C=CA1143746821LYSTc.2441G= (p.Ser814=)
c.1844G= (p.Ser615=)
n.2992G=
c.104G= (p.Ser35=)
n.2623G=
1g.235806695C>GCA344957224LYSTc.2441G>C (p.Ser814Thr)
c.1844G>C (p.Ser615Thr)
n.2992G>C
c.104G>C (p.Ser35Thr)
n.2623G>C
1g.235806695C>TCA344957226LYSTc.2441G>A (p.Ser814Asn)
c.1844G>A (p.Ser615Asn)
n.2992G>A
c.104G>A (p.Ser35Asn)
n.2623G>A
1g.235806696T>ACA344957230LYSTc.2440A>T (p.Ser814Cys)
c.1843A>T (p.Ser615Cys)
n.2991A>T
c.103A>T (p.Ser35Cys)
n.2622A>T
1g.235806696T>CCA344957232LYSTc.2440A>G (p.Ser814Gly)
c.1843A>G (p.Ser615Gly)
n.2991A>G
c.103A>G (p.Ser35Gly)
n.2622A>G
1g.235806696T>GCA344957233LYSTc.2440A>C (p.Ser814Arg)
c.1843A>C (p.Ser615Arg)
n.2991A>C
c.103A>C (p.Ser35Arg)
n.2622A>C
ClinVar dbSNP
1g.235806697T>ACA424027769LYSTc.2439A>T (p.Arg813=)
c.1842A>T (p.Arg614=)
n.2990A>T
c.102A>T (p.Arg34=)
n.2621A>T
1g.235806697T>CCA424027771LYSTc.2439A>G (p.Arg813=)
c.1842A>G (p.Arg614=)
n.2990A>G
c.102A>G (p.Arg34=)
n.2621A>G
1g.235806697T>GCA424027768LYSTc.2439A>C (p.Arg813=)
c.1842A>C (p.Arg614=)
n.2990A>C
c.102A>C (p.Arg34=)
n.2621A>C
ClinVar dbSNP gnomAD v4
1g.235806697T=CA2486650277LYSTc.2439A= (p.Arg813=)
c.1842A= (p.Arg614=)
n.2990A=
c.102A= (p.Arg34=)
n.2621A=
1g.235806698C>ACA1467279LYSTc.2438G>T (p.Arg813Leu)
c.1841G>T (p.Arg614Leu)
n.2989G>T
c.101G>T (p.Arg34Leu)
n.2620G>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.235806698C=CA1146590693LYSTc.2438G= (p.Arg813=)
c.1841G= (p.Arg614=)
n.2989G=
c.101G= (p.Arg34=)
n.2620G=
1g.235806698C>GCA344957238LYSTc.2438G>C (p.Arg813Pro)
c.1841G>C (p.Arg614Pro)
n.2989G>C
c.101G>C (p.Arg34Pro)
n.2620G>C
1g.235806698C>TCA1467278LYSTc.2438G>A (p.Arg813Gln)
c.1841G>A (p.Arg614Gln)
n.2989G>A
c.101G>A (p.Arg34Gln)
n.2620G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.235806699delCA2580062476LYSTc.2437del (p.Arg813GlufsTer5)
c.1840del (p.Arg614GlufsTer5)
n.2988del
c.100del (p.Arg34GlufsTer5)
n.2619del
ClinVar
1g.235806699G>ACA344957241LYSTc.2437C>T (p.Arg813Ter)
c.1840C>T (p.Arg614Ter)
n.2988C>T
c.100C>T (p.Arg34Ter)
n.2619C>T
ClinVar gnomAD v4
1g.235806699G>CCA344957243LYSTc.2437C>G (p.Arg813Gly)
c.1840C>G (p.Arg614Gly)
n.2988C>G
c.100C>G (p.Arg34Gly)
n.2619C>G
1g.235806699G>TCA424027778LYSTc.2437C>A (p.Arg813=)
c.1840C>A (p.Arg614=)
n.2988C>A
c.100C>A (p.Arg34=)
n.2619C>A
1g.235806700A>CCA344957245LYSTc.2436T>G (p.Ile812Met)
c.1839T>G (p.Ile613Met)
n.2987T>G
c.99T>G (p.Ile33Met)
n.2618T>G
1g.235806700A>GCA424027779LYSTc.2436T>C (p.Ile812=)
c.1839T>C (p.Ile613=)
n.2987T>C
c.99T>C (p.Ile33=)
n.2618T>C
1g.235806700A>TCA424027780LYSTc.2436T>A (p.Ile812=)
c.1839T>A (p.Ile613=)
n.2987T>A
c.99T>A (p.Ile33=)
n.2618T>A
1g.235806701A>CCA344957247LYSTc.2435T>G (p.Ile812Ser)
c.1838T>G (p.Ile613Ser)
n.2986T>G
c.98T>G (p.Ile33Ser)
n.2617T>G
1g.235806701A>GCA344957250LYSTc.2435T>C (p.Ile812Thr)
c.1838T>C (p.Ile613Thr)
n.2986T>C
c.98T>C (p.Ile33Thr)
n.2617T>C
1g.235806701A>TCA344957251LYSTc.2435T>A (p.Ile812Asn)
c.1838T>A (p.Ile613Asn)
n.2986T>A
c.98T>A (p.Ile33Asn)
n.2617T>A
1g.235806702T>ACA344957252LYSTc.2434A>T (p.Ile812Phe)
c.1837A>T (p.Ile613Phe)
n.2985A>T
c.97A>T (p.Ile33Phe)
n.2616A>T
1g.235806702T>CCA1467280LYSTc.2434A>G (p.Ile812Val)
c.1837A>G (p.Ile613Val)
n.2985A>G
c.97A>G (p.Ile33Val)
n.2616A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806702T>GCA344957253LYSTc.2434A>C (p.Ile812Leu)
c.1837A>C (p.Ile613Leu)
n.2985A>C
c.97A>C (p.Ile33Leu)
n.2616A>C
1g.235806702T=CA2486650278LYSTc.2434A= (p.Ile812=)
c.1837A= (p.Ile613=)
n.2985A=
c.97A= (p.Ile33=)
n.2616A=
1g.235806703A=CA2486650279LYSTc.2433T= (p.Gly811=)
c.1836T= (p.Gly612=)
n.2984T=
c.96T= (p.Gly32=)
n.2615T=
1g.235806703A>CCA424027784LYSTc.2433T>G (p.Gly811=)
c.1836T>G (p.Gly612=)
n.2984T>G
c.96T>G (p.Gly32=)
n.2615T>G
ClinVar dbSNP gnomAD v4
1g.235806703A>GCA424027787LYSTc.2433T>C (p.Gly811=)
c.1836T>C (p.Gly612=)
n.2984T>C
c.96T>C (p.Gly32=)
n.2615T>C
gnomAD v4
1g.235806703A>TCA424027783LYSTc.2433T>A (p.Gly811=)
c.1836T>A (p.Gly612=)
n.2984T>A
c.96T>A (p.Gly32=)
n.2615T>A
1g.235806704C>ACA1467281LYSTc.2432G>T (p.Gly811Val)
c.1835G>T (p.Gly612Val)
n.2983G>T
c.95G>T (p.Gly32Val)
n.2614G>T
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806704C=CA2486650280LYSTc.2432G= (p.Gly811=)
c.1835G= (p.Gly612=)
n.2983G=
c.95G= (p.Gly32=)
n.2614G=
1g.235806704C>GCA344957254LYSTc.2432G>C (p.Gly811Ala)
c.1835G>C (p.Gly612Ala)
n.2983G>C
c.95G>C (p.Gly32Ala)
n.2614G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806704C>TCA344957255LYSTc.2432G>A (p.Gly811Asp)
c.1835G>A (p.Gly612Asp)
n.2983G>A
c.95G>A (p.Gly32Asp)
n.2614G>A
1g.235806705C>ACA344957256LYSTc.2431G>T (p.Gly811Cys)
c.1834G>T (p.Gly612Cys)
n.2982G>T
c.94G>T (p.Gly32Cys)
n.2613G>T
dbSNP gnomAD v2 gnomAD v4
1g.235806705C=CA2486650281LYSTc.2431G= (p.Gly811=)
c.1834G= (p.Gly612=)
n.2982G=
c.94G= (p.Gly32=)
n.2613G=
1g.235806705C>GCA344957257LYSTc.2431G>C (p.Gly811Arg)
c.1834G>C (p.Gly612Arg)
n.2982G>C
c.94G>C (p.Gly32Arg)
n.2613G>C
1g.235806705C>TCA344957258LYSTc.2431G>A (p.Gly811Ser)
c.1834G>A (p.Gly612Ser)
n.2982G>A
c.94G>A (p.Gly32Ser)
n.2613G>A
dbSNP gnomAD v2 gnomAD v4
1g.235806706A=CA2486650282LYSTc.2430T= (p.Asn810=)
c.1833T= (p.Asn611=)
n.2981T=
c.93T= (p.Asn31=)
n.2612T=
1g.235806706A>CCA344957259LYSTc.2430T>G (p.Asn810Lys)
c.1833T>G (p.Asn611Lys)
n.2981T>G
c.93T>G (p.Asn31Lys)
n.2612T>G
1g.235806706A>GCA424027796LYSTc.2430T>C (p.Asn810=)
c.1833T>C (p.Asn611=)
n.2981T>C
c.93T>C (p.Asn31=)
n.2612T>C
dbSNP gnomAD v2 gnomAD v4
1g.235806706A>TCA344957260LYSTc.2430T>A (p.Asn810Lys)
c.1833T>A (p.Asn611Lys)
n.2981T>A
c.93T>A (p.Asn31Lys)
n.2612T>A
1g.235806707T>ACA344957262LYSTc.2429A>T (p.Asn810Ile)
c.1832A>T (p.Asn611Ile)
n.2980A>T
c.92A>T (p.Asn31Ile)
n.2611A>T
1g.235806707T>CCA344957263LYSTc.2429A>G (p.Asn810Ser)
c.1832A>G (p.Asn611Ser)
n.2980A>G
c.92A>G (p.Asn31Ser)
n.2611A>G
gnomAD v4
1g.235806707T>GCA344957261LYSTc.2429A>C (p.Asn810Thr)
c.1832A>C (p.Asn611Thr)
n.2980A>C
c.92A>C (p.Asn31Thr)
n.2611A>C
1g.235806708T>ACA344957264LYSTc.2428A>T (p.Asn810Tyr)
c.1831A>T (p.Asn611Tyr)
n.2979A>T
c.91A>T (p.Asn31Tyr)
n.2610A>T
1g.235806708T>CCA344957266LYSTc.2428A>G (p.Asn810Asp)
c.1831A>G (p.Asn611Asp)
n.2979A>G
c.91A>G (p.Asn31Asp)
n.2610A>G
1g.235806708T>GCA344957265LYSTc.2428A>C (p.Asn810His)
c.1831A>C (p.Asn611His)
n.2979A>C
c.91A>C (p.Asn31His)
n.2610A>C
1g.235806709T>ACA344957267LYSTc.2427A>T (p.Leu809Phe)
c.1830A>T (p.Leu610Phe)
n.2978A>T
c.90A>T (p.Leu30Phe)
n.2609A>T
1g.235806709T>CCA424027798LYSTc.2427A>G (p.Leu809=)
c.1830A>G (p.Leu610=)
n.2978A>G
c.90A>G (p.Leu30=)
n.2609A>G
1g.235806709T>GCA344957268LYSTc.2427A>C (p.Leu809Phe)
c.1830A>C (p.Leu610Phe)
n.2978A>C
c.90A>C (p.Leu30Phe)
n.2609A>C
1g.235806710A>CCA344957269LYSTc.2426T>G (p.Leu809Ter)
c.1829T>G (p.Leu610Ter)
n.2977T>G
c.89T>G (p.Leu30Ter)
n.2608T>G
gnomAD v4
1g.235806710A>GCA344957271LYSTc.2426T>C (p.Leu809Ser)
c.1829T>C (p.Leu610Ser)
n.2977T>C
c.89T>C (p.Leu30Ser)
n.2608T>C
gnomAD v4
1g.235806710A>TCA344957270LYSTc.2426T>A (p.Leu809Ter)
c.1829T>A (p.Leu610Ter)
n.2977T>A
c.89T>A (p.Leu30Ter)
n.2608T>A
1g.235806711A=CA2486650283LYSTc.2425T= (p.Leu809=)
c.1828T= (p.Leu610=)
n.2976T=
c.88T= (p.Leu30=)
n.2607T=
1g.235806711A>CCA344957272LYSTc.2425T>G (p.Leu809Val)
c.1828T>G (p.Leu610Val)
n.2976T>G
c.88T>G (p.Leu30Val)
n.2607T>G
1g.235806711A>GCA1467282LYSTc.2425T>C (p.Leu809=)
c.1828T>C (p.Leu610=)
n.2976T>C
c.88T>C (p.Leu30=)
n.2607T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806711A>TCA344957273LYSTc.2425T>A (p.Leu809Ile)
c.1828T>A (p.Leu610Ile)
n.2976T>A
c.88T>A (p.Leu30Ile)
n.2607T>A
1g.235806712G>ACA424027803LYSTc.2424C>T (p.Cys808=)
c.1827C>T (p.Cys609=)
n.2975C>T
c.87C>T (p.Cys29=)
n.2606C>T
1g.235806712G>CCA344957274LYSTc.2424C>G (p.Cys808Trp)
c.1827C>G (p.Cys609Trp)
n.2975C>G
c.87C>G (p.Cys29Trp)
n.2606C>G
1g.235806712G>TCA344957275LYSTc.2424C>A (p.Cys808Ter)
c.1827C>A (p.Cys609Ter)
n.2975C>A
c.87C>A (p.Cys29Ter)
n.2606C>A
1g.235806713C>ACA344957276LYSTc.2423G>T (p.Cys808Phe)
c.1826G>T (p.Cys609Phe)
n.2974G>T
c.86G>T (p.Cys29Phe)
n.2605G>T
1g.235806713C>GCA344957277LYSTc.2423G>C (p.Cys808Ser)
c.1826G>C (p.Cys609Ser)
n.2974G>C
c.86G>C (p.Cys29Ser)
n.2605G>C
1g.235806713C>TCA344957278LYSTc.2423G>A (p.Cys808Tyr)
c.1826G>A (p.Cys609Tyr)
n.2974G>A
c.86G>A (p.Cys29Tyr)
n.2605G>A
dbSNP
1g.235806714A>CCA344957279LYSTc.2422T>G (p.Cys808Gly)
c.1825T>G (p.Cys609Gly)
n.2973T>G
c.85T>G (p.Cys29Gly)
n.2604T>G
1g.235806714A>GCA344957280LYSTc.2422T>C (p.Cys808Arg)
c.1825T>C (p.Cys609Arg)
n.2973T>C
c.85T>C (p.Cys29Arg)
n.2604T>C
1g.235806714A>TCA344957281LYSTc.2422T>A (p.Cys808Ser)
c.1825T>A (p.Cys609Ser)
n.2973T>A
c.85T>A (p.Cys29Ser)
n.2604T>A
1g.235806715A>CCA344957283LYSTc.2421T>G (p.Asn807Lys)
c.1824T>G (p.Asn608Lys)
n.2972T>G
c.84T>G (p.Asn28Lys)
n.2603T>G
1g.235806715A>GCA424027815LYSTc.2421T>C (p.Asn807=)
c.1824T>C (p.Asn608=)
n.2972T>C
c.84T>C (p.Asn28=)
n.2603T>C
1g.235806715A>TCA344957282LYSTc.2421T>A (p.Asn807Lys)
c.1824T>A (p.Asn608Lys)
n.2972T>A
c.84T>A (p.Asn28Lys)
n.2603T>A
1g.235806716T>ACA344957284LYSTc.2420A>T (p.Asn807Ile)
c.1823A>T (p.Asn608Ile)
n.2971A>T
c.83A>T (p.Asn28Ile)
n.2602A>T
1g.235806716T>CCA344957285LYSTc.2420A>G (p.Asn807Ser)
c.1823A>G (p.Asn608Ser)
n.2971A>G
c.83A>G (p.Asn28Ser)
n.2602A>G
1g.235806716T>GCA344957286LYSTc.2420A>C (p.Asn807Thr)
c.1823A>C (p.Asn608Thr)
n.2971A>C
c.83A>C (p.Asn28Thr)
n.2602A>C
1g.235806717T>ACA344957287LYSTc.2419A>T (p.Asn807Tyr)
c.1822A>T (p.Asn608Tyr)
n.2970A>T
c.82A>T (p.Asn28Tyr)
n.2601A>T
1g.235806717T>CCA344957288LYSTc.2419A>G (p.Asn807Asp)
c.1822A>G (p.Asn608Asp)
n.2970A>G
c.82A>G (p.Asn28Asp)
n.2601A>G
dbSNP
1g.235806717T>GCA344957289LYSTc.2419A>C (p.Asn807His)
c.1822A>C (p.Asn608His)
n.2970A>C
c.82A>C (p.Asn28His)
n.2601A>C
1g.235806717T=CA2486650284LYSTc.2419A= (p.Asn807=)
c.1822A= (p.Asn608=)
n.2970A=
c.82A= (p.Asn28=)
n.2601A=
1g.235806718T>ACA344957290LYSTc.2418A>T (p.Leu806Phe)
c.1821A>T (p.Leu607Phe)
n.2969A>T
c.81A>T (p.Leu27Phe)
n.2600A>T
1g.235806718T>CCA424027819LYSTc.2418A>G (p.Leu806=)
c.1821A>G (p.Leu607=)
n.2969A>G
c.81A>G (p.Leu27=)
n.2600A>G
1g.235806718T>GCA344957291LYSTc.2418A>C (p.Leu806Phe)
c.1821A>C (p.Leu607Phe)
n.2969A>C
c.81A>C (p.Leu27Phe)
n.2600A>C
1g.235806719A>CCA344957292LYSTc.2417T>G (p.Leu806Ter)
c.1820T>G (p.Leu607Ter)
n.2968T>G
c.80T>G (p.Leu27Ter)
n.2599T>G
1g.235806719A>GCA344957293LYSTc.2417T>C (p.Leu806Ser)
c.1820T>C (p.Leu607Ser)
n.2968T>C
c.80T>C (p.Leu27Ser)
n.2599T>C
gnomAD v4
1g.235806719A>TCA344957294LYSTc.2417T>A (p.Leu806Ter)
c.1820T>A (p.Leu607Ter)
n.2968T>A
c.80T>A (p.Leu27Ter)
n.2599T>A
1g.235806720A=CA2486650285LYSTc.2416T= (p.Leu806=)
c.1819T= (p.Leu607=)
n.2967T=
c.79T= (p.Leu27=)
n.2598T=
1g.235806720A>CCA344957296LYSTc.2416T>G (p.Leu806Val)
c.1819T>G (p.Leu607Val)
n.2967T>G
c.79T>G (p.Leu27Val)
n.2598T>G
1g.235806720A>GCA1467283LYSTc.2416T>C (p.Leu806=)
c.1819T>C (p.Leu607=)
n.2967T>C
c.79T>C (p.Leu27=)
n.2598T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806720A>TCA344957295LYSTc.2416T>A (p.Leu806Ile)
c.1819T>A (p.Leu607Ile)
n.2967T>A
c.79T>A (p.Leu27Ile)
n.2598T>A
1g.235806721T>ACA344957822LYSTc.2415A>T (p.Glu805Asp)
c.1818A>T (p.Glu606Asp)
n.2966A>T
c.78A>T (p.Glu26Asp)
n.2597A>T
1g.235806721T>CCA423775457LYSTc.2415A>G (p.Glu805=)
c.1818A>G (p.Glu606=)
n.2966A>G
c.78A>G (p.Glu26=)
n.2597A>G
1g.235806721T>GCA344957827LYSTc.2415A>C (p.Glu805Asp)
c.1818A>C (p.Glu606Asp)
n.2966A>C
c.78A>C (p.Glu26Asp)
n.2597A>C
gnomAD v4
1g.235806722T>ACA344957831LYSTc.2414A>T (p.Glu805Val)
c.1817A>T (p.Glu606Val)
n.2965A>T
c.77A>T (p.Glu26Val)
n.2596A>T
1g.235806722T>CCA344957834LYSTc.2414A>G (p.Glu805Gly)
c.1817A>G (p.Glu606Gly)
n.2965A>G
c.77A>G (p.Glu26Gly)
n.2596A>G
1g.235806722T>GCA344957837LYSTc.2414A>C (p.Glu805Ala)
c.1817A>C (p.Glu606Ala)
n.2965A>C
c.77A>C (p.Glu26Ala)
n.2596A>C
1g.235806722_235806723delinsTCCA2486650286LYSTc.2413_2414delinsGA (p.Glu805=)
c.1816_1817delinsGA (p.Glu606=)
n.2964_2965delinsGA
c.76_77delinsGA (p.Glu26=)
n.2595_2596delinsGA
1g.235806723delCA344844LYSTc.2413del (p.Glu805AsnfsTer2)
c.1816del (p.Glu606AsnfsTer2)
n.2964del
c.76del (p.Glu26AsnfsTer2)
n.2595del
ClinVar dbSNP gnomAD v4
1g.235806723C>ACA344957843LYSTc.2413G>T (p.Glu805Ter)
c.1816G>T (p.Glu606Ter)
n.2964G>T
c.76G>T (p.Glu26Ter)
n.2595G>T
ClinVar
1g.235806723C=CA1141188444LYSTc.2413G= (p.Glu805=)
c.1816G= (p.Glu606=)
n.2964G=
c.76G= (p.Glu26=)
n.2595G=
1g.235806723C>GCA344957846LYSTc.2413G>C (p.Glu805Gln)
c.1816G>C (p.Glu606Gln)
n.2964G>C
c.76G>C (p.Glu26Gln)
n.2595G>C
1g.235806723C>TCA1467284LYSTc.2413G>A (p.Glu805Lys)
c.1816G>A (p.Glu606Lys)
n.2964G>A
c.76G>A (p.Glu26Lys)
n.2595G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.235806724G>ACA39617473LYSTc.2412C>T (p.Ile804=)
c.1815C>T (p.Ile605=)
n.2963C>T
c.75C>T (p.Ile25=)
n.2594C>T
ClinVar dbSNP gnomAD v4
1g.235806724G>CCA344957849LYSTc.2412C>G (p.Ile804Met)
c.1815C>G (p.Ile605Met)
n.2963C>G
c.75C>G (p.Ile25Met)
n.2594C>G
1g.235806724G=CA2486650287LYSTc.2412C= (p.Ile804=)
c.1815C= (p.Ile605=)
n.2963C=
c.75C= (p.Ile25=)
n.2594C=
1g.235806724G>TCA423775459LYSTc.2412C>A (p.Ile804=)
c.1815C>A (p.Ile605=)
n.2963C>A
c.75C>A (p.Ile25=)
n.2594C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.235806725A>CCA344957851LYSTc.2411T>G (p.Ile804Ser)
c.1814T>G (p.Ile605Ser)
n.2962T>G
c.74T>G (p.Ile25Ser)
n.2593T>G
1g.235806725A>GCA344957853LYSTc.2411T>C (p.Ile804Thr)
c.1814T>C (p.Ile605Thr)
n.2962T>C
c.74T>C (p.Ile25Thr)
n.2593T>C
1g.235806725A>TCA344957855LYSTc.2411T>A (p.Ile804Asn)
c.1814T>A (p.Ile605Asn)
n.2962T>A
c.74T>A (p.Ile25Asn)
n.2593T>A
1g.235806726T>ACA344957859LYSTc.2410A>T (p.Ile804Phe)
c.1813A>T (p.Ile605Phe)
n.2961A>T
c.73A>T (p.Ile25Phe)
n.2592A>T
1g.235806726T>CCA344957858LYSTc.2410A>G (p.Ile804Val)
c.1813A>G (p.Ile605Val)
n.2961A>G
c.73A>G (p.Ile25Val)
n.2592A>G
1g.235806726T>GCA344957857LYSTc.2410A>C (p.Ile804Leu)
c.1813A>C (p.Ile605Leu)
n.2961A>C
c.73A>C (p.Ile25Leu)
n.2592A>C
1g.235806727T>ACA423775461LYSTc.2409A>T (p.Ile803=)
c.1812A>T (p.Ile604=)
n.2960A>T
c.72A>T (p.Ile24=)
n.2591A>T
1g.235806727T>CCA344957862LYSTc.2409A>G (p.Ile803Met)
c.1812A>G (p.Ile604Met)
n.2960A>G
c.72A>G (p.Ile24Met)
n.2591A>G
1g.235806727T>GCA39617475LYSTc.2409A>C (p.Ile803=)
c.1812A>C (p.Ile604=)
n.2960A>C
c.72A>C (p.Ile24=)
n.2591A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806727T=CA2486650288LYSTc.2409A= (p.Ile803=)
c.1812A= (p.Ile604=)
n.2960A=
c.72A= (p.Ile24=)
n.2591A=
1g.235806728A>CCA344957864LYSTc.2408T>G (p.Ile803Arg)
c.1811T>G (p.Ile604Arg)
n.2959T>G
c.71T>G (p.Ile24Arg)
n.2590T>G
1g.235806728A>GCA344957866LYSTc.2408T>C (p.Ile803Thr)
c.1811T>C (p.Ile604Thr)
n.2959T>C
c.71T>C (p.Ile24Thr)
n.2590T>C
1g.235806728A>TCA344957868LYSTc.2408T>A (p.Ile803Lys)
c.1811T>A (p.Ile604Lys)
n.2959T>A
c.71T>A (p.Ile24Lys)
n.2590T>A
1g.235806729T>ACA344957870LYSTc.2407A>T (p.Ile803Leu)
c.1810A>T (p.Ile604Leu)
n.2958A>T
c.70A>T (p.Ile24Leu)
n.2589A>T
1g.235806729T>CCA344957872LYSTc.2407A>G (p.Ile803Val)
c.1810A>G (p.Ile604Val)
n.2958A>G
c.70A>G (p.Ile24Val)
n.2589A>G
1g.235806729T>GCA344957873LYSTc.2407A>C (p.Ile803Leu)
c.1810A>C (p.Ile604Leu)
n.2958A>C
c.70A>C (p.Ile24Leu)
n.2589A>C
1g.235806730T>ACA344957875LYSTc.2406A>T (p.Gln802His)
c.1809A>T (p.Gln603His)
n.2957A>T
c.69A>T (p.Gln23His)
n.2588A>T
1g.235806730T>CCA423775463LYSTc.2406A>G (p.Gln802=)
c.1809A>G (p.Gln603=)
n.2957A>G
c.69A>G (p.Gln23=)
n.2588A>G
1g.235806730T>GCA344957876LYSTc.2406A>C (p.Gln802His)
c.1809A>C (p.Gln603His)
n.2957A>C
c.69A>C (p.Gln23His)
n.2588A>C
1g.235806731T>ACA344957878LYSTc.2405A>T (p.Gln802Leu)
c.1808A>T (p.Gln603Leu)
n.2956A>T
c.68A>T (p.Gln23Leu)
n.2587A>T
1g.235806731T>CCA344957880LYSTc.2405A>G (p.Gln802Arg)
c.1808A>G (p.Gln603Arg)
n.2956A>G
c.68A>G (p.Gln23Arg)
n.2587A>G
dbSNP gnomAD v3 gnomAD v4
1g.235806731T>GCA344957882LYSTc.2405A>C (p.Gln802Pro)
c.1808A>C (p.Gln603Pro)
n.2956A>C
c.68A>C (p.Gln23Pro)
n.2587A>C
1g.235806731T=CA2486650289LYSTc.2405A= (p.Gln802=)
c.1808A= (p.Gln603=)
n.2956A=
c.68A= (p.Gln23=)
n.2587A=
1g.235806732G>ACA344957887LYSTc.2404C>T (p.Gln802Ter)
c.1807C>T (p.Gln603Ter)
n.2955C>T
c.67C>T (p.Gln23Ter)
n.2586C>T
1g.235806732G>CCA344957886LYSTc.2404C>G (p.Gln802Glu)
c.1807C>G (p.Gln603Glu)
n.2955C>G
c.67C>G (p.Gln23Glu)
n.2586C>G
1g.235806732G>TCA344957884LYSTc.2404C>A (p.Gln802Lys)
c.1807C>A (p.Gln603Lys)
n.2955C>A
c.67C>A (p.Gln23Lys)
n.2586C>A
ClinVar gnomAD v4
1g.235806733A>CCA344957888LYSTc.2403T>G (p.Ser801Arg)
c.1806T>G (p.Ser602Arg)
n.2954T>G
c.66T>G (p.Ser22Arg)
n.2585T>G
gnomAD v4
1g.235806733A>GCA423775467LYSTc.2403T>C (p.Ser801=)
c.1806T>C (p.Ser602=)
n.2954T>C
c.66T>C (p.Ser22=)
n.2585T>C
gnomAD v4
1g.235806733A>TCA344957890LYSTc.2403T>A (p.Ser801Arg)
c.1806T>A (p.Ser602Arg)
n.2954T>A
c.66T>A (p.Ser22Arg)
n.2585T>A
1g.235806734C>ACA344957892LYSTc.2402G>T (p.Ser801Ile)
c.1805G>T (p.Ser602Ile)
n.2953G>T
c.65G>T (p.Ser22Ile)
n.2584G>T
1g.235806734C>GCA344957894LYSTc.2402G>C (p.Ser801Thr)
c.1805G>C (p.Ser602Thr)
n.2953G>C
c.65G>C (p.Ser22Thr)
n.2584G>C
1g.235806734C>TCA344957895LYSTc.2402G>A (p.Ser801Asn)
c.1805G>A (p.Ser602Asn)
n.2953G>A
c.65G>A (p.Ser22Asn)
n.2584G>A
1g.235806735T>ACA344957897LYSTc.2401A>T (p.Ser801Cys)
c.1804A>T (p.Ser602Cys)
n.2952A>T
c.64A>T (p.Ser22Cys)
n.2583A>T
1g.235806735T>CCA344957898LYSTc.2401A>G (p.Ser801Gly)
c.1804A>G (p.Ser602Gly)
n.2952A>G
c.64A>G (p.Ser22Gly)
n.2583A>G
dbSNP
1g.235806735T>GCA344957900LYSTc.2401A>C (p.Ser801Arg)
c.1804A>C (p.Ser602Arg)
n.2952A>C
c.64A>C (p.Ser22Arg)
n.2583A>C
1g.235806735T=CA2486650290LYSTc.2401A= (p.Ser801=)
c.1804A= (p.Ser602=)
n.2952A=
c.64A= (p.Ser22=)
n.2583A=
1g.235806736T>ACA423775469LYSTc.2400A>T (p.Val800=)
c.1803A>T (p.Val601=)
n.2951A>T
c.63A>T (p.Val21=)
n.2582A>T
1g.235806736T>CCA423775472LYSTc.2400A>G (p.Val800=)
c.1803A>G (p.Val601=)
n.2951A>G
c.63A>G (p.Val21=)
n.2582A>G
1g.235806736T>GCA423775471LYSTc.2400A>C (p.Val800=)
c.1803A>C (p.Val601=)
n.2951A>C
c.63A>C (p.Val21=)
n.2582A>C
1g.235806737A=CA2486650291LYSTc.2399T= (p.Val800=)
c.1802T= (p.Val601=)
n.2950T=
c.62T= (p.Val21=)
n.2581T=
1g.235806737A>CCA344957902LYSTc.2399T>G (p.Val800Gly)
c.1802T>G (p.Val601Gly)
n.2950T>G
c.62T>G (p.Val21Gly)
n.2581T>G
dbSNP gnomAD v4
1g.235806737A>GCA344957904LYSTc.2399T>C (p.Val800Ala)
c.1802T>C (p.Val601Ala)
n.2950T>C
c.62T>C (p.Val21Ala)
n.2581T>C
1g.235806737A>TCA344957906LYSTc.2399T>A (p.Val800Glu)
c.1802T>A (p.Val601Glu)
n.2950T>A
c.62T>A (p.Val21Glu)
n.2581T>A
1g.235806738C>ACA344957908LYSTc.2398G>T (p.Val800Leu)
c.1801G>T (p.Val601Leu)
n.2949G>T
c.61G>T (p.Val21Leu)
n.2580G>T
gnomAD v4
1g.235806738C>GCA344957910LYSTc.2398G>C (p.Val800Leu)
c.1801G>C (p.Val601Leu)
n.2949G>C
c.61G>C (p.Val21Leu)
n.2580G>C
1g.235806738C>TCA344957911LYSTc.2398G>A (p.Val800Ile)
c.1801G>A (p.Val601Ile)
n.2949G>A
c.61G>A (p.Val21Ile)
n.2580G>A
gnomAD v4
1g.235806739T>ACA423775474LYSTc.2397A>T (p.Gly799=)
c.1800A>T (p.Gly600=)
n.2948A>T
c.60A>T (p.Gly20=)
n.2579A>T
1g.235806739T>CCA423775476LYSTc.2397A>G (p.Gly799=)
c.1800A>G (p.Gly600=)
n.2948A>G
c.60A>G (p.Gly20=)
n.2579A>G
1g.235806739T>GCA423775477LYSTc.2397A>C (p.Gly799=)
c.1800A>C (p.Gly600=)
n.2948A>C
c.60A>C (p.Gly20=)
n.2579A>C
1g.235806740C>ACA344957915LYSTc.2396G>T (p.Gly799Val)
c.1799G>T (p.Gly600Val)
n.2947G>T
c.59G>T (p.Gly20Val)
n.2578G>T
1g.235806740C=CA2486650292LYSTc.2396G= (p.Gly799=)
c.1799G= (p.Gly600=)
n.2947G=
c.59G= (p.Gly20=)
n.2578G=
1g.235806740C>GCA344957913LYSTc.2396G>C (p.Gly799Ala)
c.1799G>C (p.Gly600Ala)
n.2947G>C
c.59G>C (p.Gly20Ala)
n.2578G>C
dbSNP
1g.235806740C>TCA344957914LYSTc.2396G>A (p.Gly799Glu)
c.1799G>A (p.Gly600Glu)
n.2947G>A
c.59G>A (p.Gly20Glu)
n.2578G>A
1g.235806740_235806741delinsATCA2580062478LYSTc.2395_2396delinsAT (p.Gly799Ile)
c.1798_1799delinsAT (p.Gly600Ile)
n.2946_2947delinsAT
c.58_59delinsAT (p.Gly20Ile)
n.2577_2578delinsAT
ClinVar
1g.235806741C>ACA344957916LYSTc.2395G>T (p.Gly799Ter)
c.1798G>T (p.Gly600Ter)
n.2946G>T
c.58G>T (p.Gly20Ter)
n.2577G>T
1g.235806741C>GCA344957917LYSTc.2395G>C (p.Gly799Arg)
c.1798G>C (p.Gly600Arg)
n.2946G>C
c.58G>C (p.Gly20Arg)
n.2577G>C
1g.235806741C>TCA344957919LYSTc.2395G>A (p.Gly799Arg)
c.1798G>A (p.Gly600Arg)
n.2946G>A
c.58G>A (p.Gly20Arg)
n.2577G>A
1g.235806742A>CCA344957921LYSTc.2394T>G (p.Asn798Lys)
c.1797T>G (p.Asn599Lys)
n.2945T>G
c.57T>G (p.Asn19Lys)
n.2576T>G
1g.235806742A>GCA423775481LYSTc.2394T>C (p.Asn798=)
c.1797T>C (p.Asn599=)
n.2945T>C
c.57T>C (p.Asn19=)
n.2576T>C
1g.235806742A>TCA344957923LYSTc.2394T>A (p.Asn798Lys)
c.1797T>A (p.Asn599Lys)
n.2945T>A
c.57T>A (p.Asn19Lys)
n.2576T>A
1g.235806743T>ACA344957926LYSTc.2393A>T (p.Asn798Ile)
c.1796A>T (p.Asn599Ile)
n.2944A>T
c.56A>T (p.Asn19Ile)
n.2575A>T
1g.235806743T>CCA344957929LYSTc.2393A>G (p.Asn798Ser)
c.1796A>G (p.Asn599Ser)
n.2944A>G
c.56A>G (p.Asn19Ser)
n.2575A>G
1g.235806743T>GCA344957931LYSTc.2393A>C (p.Asn798Thr)
c.1796A>C (p.Asn599Thr)
n.2944A>C
c.56A>C (p.Asn19Thr)
n.2575A>C
1g.235806744T>ACA344957935LYSTc.2392A>T (p.Asn798Tyr)
c.1795A>T (p.Asn599Tyr)
n.2943A>T
c.55A>T (p.Asn19Tyr)
n.2574A>T
1g.235806744T>CCA344957939LYSTc.2392A>G (p.Asn798Asp)
c.1795A>G (p.Asn599Asp)
n.2943A>G
c.55A>G (p.Asn19Asp)
n.2574A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806744T>GCA344957940LYSTc.2392A>C (p.Asn798His)
c.1795A>C (p.Asn599His)
n.2943A>C
c.55A>C (p.Asn19His)
n.2574A>C
1g.235806744T=CA2486650293LYSTc.2392A= (p.Asn798=)
c.1795A= (p.Asn599=)
n.2943A=
c.55A= (p.Asn19=)
n.2574A=
1g.235806745A=CA2486650294LYSTc.2391T= (p.Cys797=)
c.1794T= (p.Cys598=)
n.2942T=
c.54T= (p.Cys18=)
n.2573T=
1g.235806745A>CCA344957942LYSTc.2391T>G (p.Cys797Trp)
c.1794T>G (p.Cys598Trp)
n.2942T>G
c.54T>G (p.Cys18Trp)
n.2573T>G
1g.235806745A>GCA423775485LYSTc.2391T>C (p.Cys797=)
c.1794T>C (p.Cys598=)
n.2942T>C
c.54T>C (p.Cys18=)
n.2573T>C
ClinVar
1g.235806745A>TCA344957941LYSTc.2391T>A (p.Cys797Ter)
c.1794T>A (p.Cys598Ter)
n.2942T>A
c.54T>A (p.Cys18Ter)
n.2573T>A
dbSNP gnomAD v2
1g.235806746C>ACA344957944LYSTc.2390G>T (p.Cys797Phe)
c.1793G>T (p.Cys598Phe)
n.2941G>T
c.53G>T (p.Cys18Phe)
n.2572G>T
gnomAD v4
1g.235806746C>GCA344957946LYSTc.2390G>C (p.Cys797Ser)
c.1793G>C (p.Cys598Ser)
n.2941G>C
c.53G>C (p.Cys18Ser)
n.2572G>C
1g.235806746C>TCA344957948LYSTc.2390G>A (p.Cys797Tyr)
c.1793G>A (p.Cys598Tyr)
n.2941G>A
c.53G>A (p.Cys18Tyr)
n.2572G>A

Number of alleles fetched