Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48756253_48756255delCA2628343493CEP152c.2997_2999del (p.Glu999del)
c.2718_2720del (p.Glu906del)
c.1038_1040del (p.Glu346del)
c.1032_1034del (p.Glu344del)
n.3962_3964del
n.3948_3950del
 gnomAD v4
15g.48756253C>ACA392342962CEP152c.2995G>T (p.Glu999Ter)
c.2716G>T (p.Glu906Ter)
c.1036G>T (p.Glu346Ter)
c.1030G>T (p.Glu344Ter)
n.3960G>T
n.3946G>T
15g.48756253C>GCA392342963CEP152c.2995G>C (p.Glu999Gln)
c.2716G>C (p.Glu906Gln)
c.1036G>C (p.Glu346Gln)
c.1030G>C (p.Glu344Gln)
n.3960G>C
n.3946G>C
 gnomAD v4
15g.48756253C>TCA392342964CEP152c.2995G>A (p.Glu999Lys)
c.2716G>A (p.Glu906Lys)
c.1036G>A (p.Glu346Lys)
c.1030G>A (p.Glu344Lys)
n.3960G>A
n.3946G>A
15g.48756254T>ACA392342965CEP152c.2994A>T (p.Lys998Asn)
c.2715A>T (p.Lys905Asn)
c.1035A>T (p.Lys345Asn)
c.1029A>T (p.Lys343Asn)
n.3959A>T
n.3945A>T
15g.48756254T>CCA490311281CEP152c.2994A>G (p.Lys998=)
c.2715A>G (p.Lys905=)
c.1035A>G (p.Lys345=)
c.1029A>G (p.Lys343=)
n.3959A>G
n.3945A>G
 gnomAD v4
15g.48756254T>GCA392342966CEP152c.2994A>C (p.Lys998Asn)
c.2715A>C (p.Lys905Asn)
c.1035A>C (p.Lys345Asn)
c.1029A>C (p.Lys343Asn)
n.3959A>C
n.3945A>C
15g.48756255T>ACA392342969CEP152c.2993A>T (p.Lys998Ile)
c.2714A>T (p.Lys905Ile)
c.1034A>T (p.Lys345Ile)
c.1028A>T (p.Lys343Ile)
n.3958A>T
n.3944A>T
15g.48756255T>CCA392342968CEP152c.2993A>G (p.Lys998Arg)
c.2714A>G (p.Lys905Arg)
c.1034A>G (p.Lys345Arg)
c.1028A>G (p.Lys343Arg)
n.3958A>G
n.3944A>G
15g.48756255T>GCA392342967CEP152c.2993A>C (p.Lys998Thr)
c.2714A>C (p.Lys905Thr)
c.1034A>C (p.Lys345Thr)
c.1028A>C (p.Lys343Thr)
n.3958A>C
n.3944A>C
15g.48756256T>ACA392342970CEP152c.2992A>T (p.Lys998Ter)
c.2713A>T (p.Lys905Ter)
c.1033A>T (p.Lys345Ter)
c.1027A>T (p.Lys343Ter)
n.3957A>T
n.3943A>T
15g.48756256T>CCA392342971CEP152c.2992A>G (p.Lys998Glu)
c.2713A>G (p.Lys905Glu)
c.1033A>G (p.Lys345Glu)
c.1027A>G (p.Lys343Glu)
n.3957A>G
n.3943A>G
 gnomAD v4
15g.48756256T>GCA392342972CEP152c.2992A>C (p.Lys998Gln)
c.2713A>C (p.Lys905Gln)
c.1033A>C (p.Lys345Gln)
c.1027A>C (p.Lys343Gln)
n.3957A>C
n.3943A>C
15g.48756257A>CCA490311282CEP152c.2991T>G (p.Ala997=)
c.2712T>G (p.Ala904=)
c.1032T>G (p.Ala344=)
c.1026T>G (p.Ala342=)
n.3956T>G
n.3942T>G
15g.48756257A>GCA490311283CEP152c.2991T>C (p.Ala997=)
c.2712T>C (p.Ala904=)
c.1032T>C (p.Ala344=)
c.1026T>C (p.Ala342=)
n.3956T>C
n.3942T>C
 gnomAD v4
15g.48756257A>TCA490311284CEP152c.2991T>A (p.Ala997=)
c.2712T>A (p.Ala904=)
c.1032T>A (p.Ala344=)
c.1026T>A (p.Ala342=)
n.3956T>A
n.3942T>A
15g.48756258G>ACA392342973CEP152c.2990C>T (p.Ala997Val)
c.2711C>T (p.Ala904Val)
c.1031C>T (p.Ala344Val)
c.1025C>T (p.Ala342Val)
n.3955C>T
n.3941C>T
15g.48756258G>CCA392342974CEP152c.2990C>G (p.Ala997Gly)
c.2711C>G (p.Ala904Gly)
c.1031C>G (p.Ala344Gly)
c.1025C>G (p.Ala342Gly)
n.3955C>G
n.3941C>G
 dbSNP gnomAD v2
15g.48756258G=CA2175628931CEP152c.2990C= (p.Ala997=)
c.2711C= (p.Ala904=)
c.1031C= (p.Ala344=)
c.1025C= (p.Ala342=)
n.3955C=
n.3941C=
15g.48756258G>TCA392342975CEP152c.2990C>A (p.Ala997Asp)
c.2711C>A (p.Ala904Asp)
c.1031C>A (p.Ala344Asp)
c.1025C>A (p.Ala342Asp)
n.3955C>A
n.3941C>A
15g.48756259C>ACA392342976CEP152c.2989G>T (p.Ala997Ser)
c.2710G>T (p.Ala904Ser)
c.1030G>T (p.Ala344Ser)
c.1024G>T (p.Ala342Ser)
n.3954G>T
n.3940G>T
15g.48756259C>GCA392342978CEP152c.2989G>C (p.Ala997Pro)
c.2710G>C (p.Ala904Pro)
c.1030G>C (p.Ala344Pro)
c.1024G>C (p.Ala342Pro)
n.3954G>C
n.3940G>C
15g.48756259C>TCA392342977CEP152c.2989G>A (p.Ala997Thr)
c.2710G>A (p.Ala904Thr)
c.1030G>A (p.Ala344Thr)
c.1024G>A (p.Ala342Thr)
n.3954G>A
n.3940G>A
 gnomAD v4
15g.48756260T>ACA490311285CEP152c.2988A>T (p.Ala996=)
c.2709A>T (p.Ala903=)
c.1029A>T (p.Ala343=)
c.1023A>T (p.Ala341=)
n.3953A>T
n.3939A>T
15g.48756260T>CCA490311286CEP152c.2988A>G (p.Ala996=)
c.2709A>G (p.Ala903=)
c.1029A>G (p.Ala343=)
c.1023A>G (p.Ala341=)
n.3953A>G
n.3939A>G
 dbSNP
15g.48756260T>GCA490311287CEP152c.2988A>C (p.Ala996=)
c.2709A>C (p.Ala903=)
c.1029A>C (p.Ala343=)
c.1023A>C (p.Ala341=)
n.3953A>C
n.3939A>C
15g.48756260T=CA2175628933CEP152c.2988A= (p.Ala996=)
c.2709A= (p.Ala903=)
c.1029A= (p.Ala343=)
c.1023A= (p.Ala341=)
n.3953A=
n.3939A=
15g.48756261G>ACA392342979CEP152c.2987C>T (p.Ala996Val)
c.2708C>T (p.Ala903Val)
c.1028C>T (p.Ala343Val)
c.1022C>T (p.Ala341Val)
n.3952C>T
n.3938C>T
 gnomAD v4
15g.48756261G>CCA392342980CEP152c.2987C>G (p.Ala996Gly)
c.2708C>G (p.Ala903Gly)
c.1028C>G (p.Ala343Gly)
c.1022C>G (p.Ala341Gly)
n.3952C>G
n.3938C>G
15g.48756261G>TCA392342981CEP152c.2987C>A (p.Ala996Glu)
c.2708C>A (p.Ala903Glu)
c.1028C>A (p.Ala343Glu)
c.1022C>A (p.Ala341Glu)
n.3952C>A
n.3938C>A
15g.48756262C>ACA392342982CEP152c.2986G>T (p.Ala996Ser)
c.2707G>T (p.Ala903Ser)
c.1027G>T (p.Ala343Ser)
c.1021G>T (p.Ala341Ser)
n.3951G>T
n.3937G>T
15g.48756262C=CA2175628937CEP152c.2986G= (p.Ala996=)
c.2707G= (p.Ala903=)
c.1027G= (p.Ala343=)
c.1021G= (p.Ala341=)
n.3951G=
n.3937G=
15g.48756262C>GCA392342983CEP152c.2986G>C (p.Ala996Pro)
c.2707G>C (p.Ala903Pro)
c.1027G>C (p.Ala343Pro)
c.1021G>C (p.Ala341Pro)
n.3951G>C
n.3937G>C
15g.48756262C>TCA392342984CEP152c.2986G>A (p.Ala996Thr)
c.2707G>A (p.Ala903Thr)
c.1027G>A (p.Ala343Thr)
c.1021G>A (p.Ala341Thr)
n.3951G>A
n.3937G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756263delCA2628343494CEP152c.2986del (p.Ala996GlnfsTer7)
c.2707del (p.Ala903GlnfsTer7)
c.1027del (p.Ala343GlnfsTer7)
c.1021del (p.Ala341GlnfsTer7)
n.3951del
n.3937del
 gnomAD v4
15g.48756263C>ACA171719CEP152c.2985G>T (p.Ala995=)
c.2706G>T (p.Ala902=)
c.1026G>T (p.Ala342=)
c.1020G>T (p.Ala340=)
n.3950G>T
n.3936G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756263C=CA2175628943CEP152c.2985G= (p.Ala995=)
c.2706G= (p.Ala902=)
c.1026G= (p.Ala342=)
c.1020G= (p.Ala340=)
n.3950G=
n.3936G=
15g.48756263C>GCA490311288CEP152c.2985G>C (p.Ala995=)
c.2706G>C (p.Ala902=)
c.1026G>C (p.Ala342=)
c.1020G>C (p.Ala340=)
n.3950G>C
n.3936G>C
15g.48756263C>TCA7548433CEP152c.2985G>A (p.Ala995=)
c.2706G>A (p.Ala902=)
c.1026G>A (p.Ala342=)
c.1020G>A (p.Ala340=)
n.3950G>A
n.3936G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756264G>ACA7548434CEP152c.2984C>T (p.Ala995Val)
c.2705C>T (p.Ala902Val)
c.1025C>T (p.Ala342Val)
c.1019C>T (p.Ala340Val)
n.3949C>T
n.3935C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.48756264G>CCA392342985CEP152c.2984C>G (p.Ala995Gly)
c.2705C>G (p.Ala902Gly)
c.1025C>G (p.Ala342Gly)
c.1019C>G (p.Ala340Gly)
n.3949C>G
n.3935C>G
 gnomAD v4
15g.48756264G=CA2175628952CEP152c.2984C= (p.Ala995=)
c.2705C= (p.Ala902=)
c.1025C= (p.Ala342=)
c.1019C= (p.Ala340=)
n.3949C=
n.3935C=
15g.48756264G>TCA392342986CEP152c.2984C>A (p.Ala995Glu)
c.2705C>A (p.Ala902Glu)
c.1025C>A (p.Ala342Glu)
c.1019C>A (p.Ala340Glu)
n.3949C>A
n.3935C>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756265C>ACA392342987CEP152c.2983G>T (p.Ala995Ser)
c.2704G>T (p.Ala902Ser)
c.1024G>T (p.Ala342Ser)
c.1018G>T (p.Ala340Ser)
n.3948G>T
n.3934G>T
15g.48756265C=CA2175628958CEP152c.2983G= (p.Ala995=)
c.2704G= (p.Ala902=)
c.1024G= (p.Ala342=)
c.1018G= (p.Ala340=)
n.3948G=
n.3934G=
15g.48756265C>GCA392342989CEP152c.2983G>C (p.Ala995Pro)
c.2704G>C (p.Ala902Pro)
c.1024G>C (p.Ala342Pro)
c.1018G>C (p.Ala340Pro)
n.3948G>C
n.3934G>C
15g.48756265C>TCA392342988CEP152c.2983G>A (p.Ala995Thr)
c.2704G>A (p.Ala902Thr)
c.1024G>A (p.Ala342Thr)
c.1018G>A (p.Ala340Thr)
n.3948G>A
n.3934G>A
 dbSNP
15g.48756265dupCA7548435CEP152c.2983dup (p.Ala995GlyfsTer4)
c.2704dup (p.Ala902GlyfsTer4)
c.1024dup (p.Ala342GlyfsTer4)
c.1018dup (p.Ala340GlyfsTer4)
n.3948dup
n.3934dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756266A>CCA490311289CEP152c.2982T>G (p.Leu994=)
c.2703T>G (p.Leu901=)
c.1023T>G (p.Leu341=)
c.1017T>G (p.Leu339=)
n.3947T>G
n.3933T>G
15g.48756266A>GCA490311290CEP152c.2982T>C (p.Leu994=)
c.2703T>C (p.Leu901=)
c.1023T>C (p.Leu341=)
c.1017T>C (p.Leu339=)
n.3947T>C
n.3933T>C
15g.48756266A>TCA490311291CEP152c.2982T>A (p.Leu994=)
c.2703T>A (p.Leu901=)
c.1023T>A (p.Leu341=)
c.1017T>A (p.Leu339=)
n.3947T>A
n.3933T>A
15g.48756267A=CA2175628962CEP152c.2981T= (p.Leu994=)
c.2702T= (p.Leu901=)
c.1022T= (p.Leu341=)
c.1016T= (p.Leu339=)
n.3946T=
n.3932T=
15g.48756267A>CCA392342990CEP152c.2981T>G (p.Leu994Arg)
c.2702T>G (p.Leu901Arg)
c.1022T>G (p.Leu341Arg)
c.1016T>G (p.Leu339Arg)
n.3946T>G
n.3932T>G
15g.48756267A>GCA7548436CEP152c.2981T>C (p.Leu994Pro)
c.2702T>C (p.Leu901Pro)
c.1022T>C (p.Leu341Pro)
c.1016T>C (p.Leu339Pro)
n.3946T>C
n.3932T>C
 dbSNP ExAC
15g.48756267A>TCA392342991CEP152c.2981T>A (p.Leu994His)
c.2702T>A (p.Leu901His)
c.1022T>A (p.Leu341His)
c.1016T>A (p.Leu339His)
n.3946T>A
n.3932T>A
15g.48756268G>ACA392342992CEP152c.2980C>T (p.Leu994Phe)
c.2701C>T (p.Leu901Phe)
c.1021C>T (p.Leu341Phe)
c.1015C>T (p.Leu339Phe)
n.3945C>T
n.3931C>T
 dbSNP
15g.48756268G>CCA392342993CEP152c.2980C>G (p.Leu994Val)
c.2701C>G (p.Leu901Val)
c.1021C>G (p.Leu341Val)
c.1015C>G (p.Leu339Val)
n.3945C>G
n.3931C>G
15g.48756268G=CA2175628965CEP152c.2980C= (p.Leu994=)
c.2701C= (p.Leu901=)
c.1021C= (p.Leu341=)
c.1015C= (p.Leu339=)
n.3945C=
n.3931C=
15g.48756268G>TCA392342994CEP152c.2980C>A (p.Leu994Ile)
c.2701C>A (p.Leu901Ile)
c.1021C>A (p.Leu341Ile)
c.1015C>A (p.Leu339Ile)
n.3945C>A
n.3931C>A
15g.48756269C>ACA490311292CEP152c.2979G>T (p.Val993=)
c.2700G>T (p.Val900=)
c.1020G>T (p.Val340=)
c.1014G>T (p.Val338=)
n.3944G>T
n.3930G>T
15g.48756269C>GCA490311293CEP152c.2979G>C (p.Val993=)
c.2700G>C (p.Val900=)
c.1020G>C (p.Val340=)
c.1014G>C (p.Val338=)
n.3944G>C
n.3930G>C
15g.48756269C>TCA490311294CEP152c.2979G>A (p.Val993=)
c.2700G>A (p.Val900=)
c.1020G>A (p.Val340=)
c.1014G>A (p.Val338=)
n.3944G>A
n.3930G>A
15g.48756270A>CCA392342995CEP152c.2978T>G (p.Val993Gly)
c.2699T>G (p.Val900Gly)
c.1019T>G (p.Val340Gly)
c.1013T>G (p.Val338Gly)
n.3943T>G
n.3929T>G
15g.48756270A>GCA392342996CEP152c.2978T>C (p.Val993Ala)
c.2699T>C (p.Val900Ala)
c.1019T>C (p.Val340Ala)
c.1013T>C (p.Val338Ala)
n.3943T>C
n.3929T>C
15g.48756270A>TCA392342997CEP152c.2978T>A (p.Val993Glu)
c.2699T>A (p.Val900Glu)
c.1019T>A (p.Val340Glu)
c.1013T>A (p.Val338Glu)
n.3943T>A
n.3929T>A
15g.48756271C>ACA392342998CEP152c.2977G>T (p.Val993Leu)
c.2698G>T (p.Val900Leu)
c.1018G>T (p.Val340Leu)
c.1012G>T (p.Val338Leu)
n.3942G>T
n.3928G>T
15g.48756271C=CA2175628969CEP152c.2977G= (p.Val993=)
c.2698G= (p.Val900=)
c.1018G= (p.Val340=)
c.1012G= (p.Val338=)
n.3942G=
n.3928G=
15g.48756271C>GCA392342999CEP152c.2977G>C (p.Val993Leu)
c.2698G>C (p.Val900Leu)
c.1018G>C (p.Val340Leu)
c.1012G>C (p.Val338Leu)
n.3942G>C
n.3928G>C
15g.48756271C>TCA392343000CEP152c.2977G>A (p.Val993Met)
c.2698G>A (p.Val900Met)
c.1018G>A (p.Val340Met)
c.1012G>A (p.Val338Met)
n.3942G>A
n.3928G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756272C>ACA392343001CEP152c.2976G>T (p.Glu992Asp)
c.2697G>T (p.Glu899Asp)
c.1017G>T (p.Glu339Asp)
c.1011G>T (p.Glu337Asp)
n.3941G>T
n.3927G>T
15g.48756272C>GCA392343002CEP152c.2976G>C (p.Glu992Asp)
c.2697G>C (p.Glu899Asp)
c.1017G>C (p.Glu339Asp)
c.1011G>C (p.Glu337Asp)
n.3941G>C
n.3927G>C
15g.48756272C>TCA490311296CEP152c.2976G>A (p.Glu992=)
c.2697G>A (p.Glu899=)
c.1017G>A (p.Glu339=)
c.1011G>A (p.Glu337=)
n.3941G>A
n.3927G>A
 gnomAD v4
15g.48756272_48756273insCCCCACCCAAACACACCCAACCA2804077935CEP152c.2976_2977insTTGGGTGTGTTTGGGTGGGGG (p.Glu992_Val993insLeuGlyValPheGlyTrpGly)
c.2697_2698insTTGGGTGTGTTTGGGTGGGGG (p.Glu899_Val900insLeuGlyValPheGlyTrpGly)
c.1017_1018insTTGGGTGTGTTTGGGTGGGGG (p.Glu339_Val340insLeuGlyValPheGlyTrpGly)
c.1011_1012insTTGGGTGTGTTTGGGTGGGGG (p.Glu337_Val338insLeuGlyValPheGlyTrpGly)
n.3941_3942insTTGGGTGTGTTTGGGTGGGGG
n.3927_3928insTTGGGTGTGTTTGGGTGGGGG
15g.48756273T>ACA392343005CEP152c.2975A>T (p.Glu992Val)
c.2696A>T (p.Glu899Val)
c.1016A>T (p.Glu339Val)
c.1010A>T (p.Glu337Val)
n.3940A>T
n.3926A>T
15g.48756273T>CCA392343004CEP152c.2975A>G (p.Glu992Gly)
c.2696A>G (p.Glu899Gly)
c.1016A>G (p.Glu339Gly)
c.1010A>G (p.Glu337Gly)
n.3940A>G
n.3926A>G
15g.48756273T>GCA392343003CEP152c.2975A>C (p.Glu992Ala)
c.2696A>C (p.Glu899Ala)
c.1016A>C (p.Glu339Ala)
c.1010A>C (p.Glu337Ala)
n.3940A>C
n.3926A>C
15g.48756274C>ACA392343006CEP152c.2974G>T (p.Glu992Ter)
c.2695G>T (p.Glu899Ter)
c.1015G>T (p.Glu339Ter)
c.1009G>T (p.Glu337Ter)
n.3939G>T
n.3925G>T
15g.48756274C>GCA392343007CEP152c.2974G>C (p.Glu992Gln)
c.2695G>C (p.Glu899Gln)
c.1015G>C (p.Glu339Gln)
c.1009G>C (p.Glu337Gln)
n.3939G>C
n.3925G>C
15g.48756274C>TCA392343008CEP152c.2974G>A (p.Glu992Lys)
c.2695G>A (p.Glu899Lys)
c.1015G>A (p.Glu339Lys)
c.1009G>A (p.Glu337Lys)
n.3939G>A
n.3925G>A
15g.48756275A=CA2175628972CEP152c.2973T= (p.Asn991=)
c.2694T= (p.Asn898=)
c.1014T= (p.Asn338=)
c.1008T= (p.Asn336=)
n.3938T=
n.3924T=
15g.48756275A>CCA392343009CEP152c.2973T>G (p.Asn991Lys)
c.2694T>G (p.Asn898Lys)
c.1014T>G (p.Asn338Lys)
c.1008T>G (p.Asn336Lys)
n.3938T>G
n.3924T>G
15g.48756275A>GCA490311298CEP152c.2973T>C (p.Asn991=)
c.2694T>C (p.Asn898=)
c.1014T>C (p.Asn338=)
c.1008T>C (p.Asn336=)
n.3938T>C
n.3924T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756275A>TCA392343010CEP152c.2973T>A (p.Asn991Lys)
c.2694T>A (p.Asn898Lys)
c.1014T>A (p.Asn338Lys)
c.1008T>A (p.Asn336Lys)
n.3938T>A
n.3924T>A
15g.48756276T>ACA392343011CEP152c.2972A>T (p.Asn991Ile)
c.2693A>T (p.Asn898Ile)
c.1013A>T (p.Asn338Ile)
c.1007A>T (p.Asn336Ile)
n.3937A>T
n.3923A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756276T>CCA392343012CEP152c.2972A>G (p.Asn991Ser)
c.2693A>G (p.Asn898Ser)
c.1013A>G (p.Asn338Ser)
c.1007A>G (p.Asn336Ser)
n.3937A>G
n.3923A>G
 gnomAD v4
15g.48756276T>GCA392343013CEP152c.2972A>C (p.Asn991Thr)
c.2693A>C (p.Asn898Thr)
c.1013A>C (p.Asn338Thr)
c.1007A>C (p.Asn336Thr)
n.3937A>C
n.3923A>C
15g.48756276T=CA2175628974CEP152c.2972A= (p.Asn991=)
c.2693A= (p.Asn898=)
c.1013A= (p.Asn338=)
c.1007A= (p.Asn336=)
n.3937A=
n.3923A=
15g.48756277delCA2628343495CEP152c.2972del (p.Asn991MetfsTer12)
c.2693del (p.Asn898MetfsTer12)
c.1013del (p.Asn338MetfsTer12)
c.1007del (p.Asn336MetfsTer12)
n.3937del
n.3923del
 gnomAD v4
15g.48756277T>ACA392343014CEP152c.2971A>T (p.Asn991Tyr)
c.2692A>T (p.Asn898Tyr)
c.1012A>T (p.Asn338Tyr)
c.1006A>T (p.Asn336Tyr)
n.3936A>T
n.3922A>T
 dbSNP
15g.48756277T>CCA392343015CEP152c.2971A>G (p.Asn991Asp)
c.2692A>G (p.Asn898Asp)
c.1012A>G (p.Asn338Asp)
c.1006A>G (p.Asn336Asp)
n.3936A>G
n.3922A>G
15g.48756277T>GCA392343016CEP152c.2971A>C (p.Asn991His)
c.2692A>C (p.Asn898His)
c.1012A>C (p.Asn338His)
c.1006A>C (p.Asn336His)
n.3936A>C
n.3922A>C
15g.48756277T=CA2175628978CEP152c.2971A= (p.Asn991=)
c.2692A= (p.Asn898=)
c.1012A= (p.Asn338=)
c.1006A= (p.Asn336=)
n.3936A=
n.3922A=
15g.48756278A>CCA392343017CEP152c.2970T>G (p.Ile990Met)
c.2691T>G (p.Ile897Met)
c.1011T>G (p.Ile337Met)
c.1005T>G (p.Ile335Met)
n.3935T>G
n.3921T>G
15g.48756278A>GCA490311299CEP152c.2970T>C (p.Ile990=)
c.2691T>C (p.Ile897=)
c.1011T>C (p.Ile337=)
c.1005T>C (p.Ile335=)
n.3935T>C
n.3921T>C
15g.48756278A>TCA490311300CEP152c.2970T>A (p.Ile990=)
c.2691T>A (p.Ile897=)
c.1011T>A (p.Ile337=)
c.1005T>A (p.Ile335=)
n.3935T>A
n.3921T>A
15g.48756279A>CCA392343020CEP152c.2969T>G (p.Ile990Ser)
c.2690T>G (p.Ile897Ser)
c.1010T>G (p.Ile337Ser)
c.1004T>G (p.Ile335Ser)
n.3934T>G
n.3920T>G
15g.48756279A>GCA392343019CEP152c.2969T>C (p.Ile990Thr)
c.2690T>C (p.Ile897Thr)
c.1010T>C (p.Ile337Thr)
c.1004T>C (p.Ile335Thr)
n.3934T>C
n.3920T>C
 gnomAD v4
15g.48756279A>TCA392343018CEP152c.2969T>A (p.Ile990Asn)
c.2690T>A (p.Ile897Asn)
c.1010T>A (p.Ile337Asn)
c.1004T>A (p.Ile335Asn)
n.3934T>A
n.3920T>A
15g.48756280T>ACA392343021CEP152c.2968A>T (p.Ile990Phe)
c.2689A>T (p.Ile897Phe)
c.1009A>T (p.Ile337Phe)
c.1003A>T (p.Ile335Phe)
n.3933A>T
n.3919A>T
15g.48756280T>CCA269537915CEP152c.2968A>G (p.Ile990Val)
c.2689A>G (p.Ile897Val)
c.1009A>G (p.Ile337Val)
c.1003A>G (p.Ile335Val)
n.3933A>G
n.3919A>G
 dbSNP
15g.48756280T>GCA392343022CEP152c.2968A>C (p.Ile990Leu)
c.2689A>C (p.Ile897Leu)
c.1009A>C (p.Ile337Leu)
c.1003A>C (p.Ile335Leu)
n.3933A>C
n.3919A>C
15g.48756280T=CA2175628985CEP152c.2968A= (p.Ile990=)
c.2689A= (p.Ile897=)
c.1009A= (p.Ile337=)
c.1003A= (p.Ile335=)
n.3933A=
n.3919A=
15g.48756281T>ACA392343023CEP152c.2967A>T (p.Lys989Asn)
c.2688A>T (p.Lys896Asn)
c.1008A>T (p.Lys336Asn)
c.1002A>T (p.Lys334Asn)
n.3932A>T
n.3918A>T
15g.48756281T>CCA7548437CEP152c.2967A>G (p.Lys989=)
c.2688A>G (p.Lys896=)
c.1008A>G (p.Lys336=)
c.1002A>G (p.Lys334=)
n.3932A>G
n.3918A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756281T>GCA392343024CEP152c.2967A>C (p.Lys989Asn)
c.2688A>C (p.Lys896Asn)
c.1008A>C (p.Lys336Asn)
c.1002A>C (p.Lys334Asn)
n.3932A>C
n.3918A>C
15g.48756281T=CA2175628989CEP152c.2967A= (p.Lys989=)
c.2688A= (p.Lys896=)
c.1008A= (p.Lys336=)
c.1002A= (p.Lys334=)
n.3932A=
n.3918A=
15g.48756282T>ACA392343025CEP152c.2966A>T (p.Lys989Ile)
c.2687A>T (p.Lys896Ile)
c.1007A>T (p.Lys336Ile)
c.1001A>T (p.Lys334Ile)
n.3931A>T
n.3917A>T
15g.48756282T>CCA392343026CEP152c.2966A>G (p.Lys989Arg)
c.2687A>G (p.Lys896Arg)
c.1007A>G (p.Lys336Arg)
c.1001A>G (p.Lys334Arg)
n.3931A>G
n.3917A>G
15g.48756282T>GCA392343027CEP152c.2966A>C (p.Lys989Thr)
c.2687A>C (p.Lys896Thr)
c.1007A>C (p.Lys336Thr)
c.1001A>C (p.Lys334Thr)
n.3931A>C
n.3917A>C
15g.48756284_48756286dupCA2628343496CEP152c.2964_2966dup (p.Asn988_Lys989insAsn)
c.2685_2687dup (p.Asn895_Lys896insAsn)
c.1005_1007dup (p.Asn335_Lys336insAsn)
c.999_1001dup (p.Asn333_Lys334insAsn)
n.3929_3931dup
n.3915_3917dup
 gnomAD v4
15g.48756283T>ACA392343028CEP152c.2965A>T (p.Lys989Ter)
c.2686A>T (p.Lys896Ter)
c.1006A>T (p.Lys336Ter)
c.1000A>T (p.Lys334Ter)
n.3930A>T
n.3916A>T
15g.48756283T>CCA392343029CEP152c.2965A>G (p.Lys989Glu)
c.2686A>G (p.Lys896Glu)
c.1006A>G (p.Lys336Glu)
c.1000A>G (p.Lys334Glu)
n.3930A>G
n.3916A>G
15g.48756283T>GCA392343030CEP152c.2965A>C (p.Lys989Gln)
c.2686A>C (p.Lys896Gln)
c.1006A>C (p.Lys336Gln)
c.1000A>C (p.Lys334Gln)
n.3930A>C
n.3916A>C
 dbSNP
15g.48756283T=CA2175628992CEP152c.2965A= (p.Lys989=)
c.2686A= (p.Lys896=)
c.1006A= (p.Lys336=)
c.1000A= (p.Lys334=)
n.3930A=
n.3916A=
15g.48756284A>CCA392343032CEP152c.2964T>G (p.Asn988Lys)
c.2685T>G (p.Asn895Lys)
c.1005T>G (p.Asn335Lys)
c.999T>G (p.Asn333Lys)
n.3929T>G
n.3915T>G
15g.48756284A>GCA490311301CEP152c.2964T>C (p.Asn988=)
c.2685T>C (p.Asn895=)
c.1005T>C (p.Asn335=)
c.999T>C (p.Asn333=)
n.3929T>C
n.3915T>C
15g.48756284A>TCA392343031CEP152c.2964T>A (p.Asn988Lys)
c.2685T>A (p.Asn895Lys)
c.1005T>A (p.Asn335Lys)
c.999T>A (p.Asn333Lys)
n.3929T>A
n.3915T>A
15g.48756285T>ACA392343033CEP152c.2963A>T (p.Asn988Ile)
c.2684A>T (p.Asn895Ile)
c.1004A>T (p.Asn335Ile)
c.998A>T (p.Asn333Ile)
n.3928A>T
n.3914A>T
15g.48756285T>CCA392343034CEP152c.2963A>G (p.Asn988Ser)
c.2684A>G (p.Asn895Ser)
c.1004A>G (p.Asn335Ser)
c.998A>G (p.Asn333Ser)
n.3928A>G
n.3914A>G
 gnomAD v4
15g.48756285T>GCA392343035CEP152c.2963A>C (p.Asn988Thr)
c.2684A>C (p.Asn895Thr)
c.1004A>C (p.Asn335Thr)
c.998A>C (p.Asn333Thr)
n.3928A>C
n.3914A>C
15g.48756286T>ACA392343036CEP152c.2962A>T (p.Asn988Tyr)
c.2683A>T (p.Asn895Tyr)
c.1003A>T (p.Asn335Tyr)
c.997A>T (p.Asn333Tyr)
n.3927A>T
n.3913A>T
15g.48756286T>CCA392343037CEP152c.2962A>G (p.Asn988Asp)
c.2683A>G (p.Asn895Asp)
c.1003A>G (p.Asn335Asp)
c.997A>G (p.Asn333Asp)
n.3927A>G
n.3913A>G
15g.48756286T>GCA392343038CEP152c.2962A>C (p.Asn988His)
c.2683A>C (p.Asn895His)
c.1003A>C (p.Asn335His)
c.997A>C (p.Asn333His)
n.3927A>C
n.3913A>C
15g.48756287T>ACA490311302CEP152c.2961A>T (p.Arg987=)
c.2682A>T (p.Arg894=)
c.1002A>T (p.Arg334=)
c.996A>T (p.Arg332=)
n.3926A>T
n.3912A>T
15g.48756287T>CCA490311303CEP152c.2961A>G (p.Arg987=)
c.2682A>G (p.Arg894=)
c.1002A>G (p.Arg334=)
c.996A>G (p.Arg332=)
n.3926A>G
n.3912A>G
15g.48756287T>GCA490311304CEP152c.2961A>C (p.Arg987=)
c.2682A>C (p.Arg894=)
c.1002A>C (p.Arg334=)
c.996A>C (p.Arg332=)
n.3926A>C
n.3912A>C
15g.48756288C>ACA392343039CEP152c.2960G>T (p.Arg987Leu)
c.2681G>T (p.Arg894Leu)
c.1001G>T (p.Arg334Leu)
c.995G>T (p.Arg332Leu)
n.3925G>T
n.3911G>T
15g.48756288C=CA2175628995CEP152c.2960G= (p.Arg987=)
c.2681G= (p.Arg894=)
c.1001G= (p.Arg334=)
c.995G= (p.Arg332=)
n.3925G=
n.3911G=
15g.48756288C>GCA392343040CEP152c.2960G>C (p.Arg987Pro)
c.2681G>C (p.Arg894Pro)
c.1001G>C (p.Arg334Pro)
c.995G>C (p.Arg332Pro)
n.3925G>C
n.3911G>C
15g.48756288C>TCA7548438CEP152c.2960G>A (p.Arg987Gln)
c.2681G>A (p.Arg894Gln)
c.1001G>A (p.Arg334Gln)
c.995G>A (p.Arg332Gln)
n.3925G>A
n.3911G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.48756289G>ACA210938CEP152c.2959C>T (p.Arg987Ter)
c.2680C>T (p.Arg894Ter)
c.1000C>T (p.Arg334Ter)
c.994C>T (p.Arg332Ter)
n.3924C>T
n.3910C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756289G>CCA7548439CEP152c.2959C>G (p.Arg987Gly)
c.2680C>G (p.Arg894Gly)
c.1000C>G (p.Arg334Gly)
c.994C>G (p.Arg332Gly)
n.3924C>G
n.3910C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756289G=CA2175628998CEP152c.2959C= (p.Arg987=)
c.2680C= (p.Arg894=)
c.1000C= (p.Arg334=)
c.994C= (p.Arg332=)
n.3924C=
n.3910C=
15g.48756289G>TCA490311305CEP152c.2959C>A (p.Arg987=)
c.2680C>A (p.Arg894=)
c.1000C>A (p.Arg334=)
c.994C>A (p.Arg332=)
n.3924C>A
n.3910C>A
 ClinVar gnomAD v4
15g.48756290G>ACA490311306CEP152c.2958C>T (p.His986=)
c.2679C>T (p.His893=)
c.999C>T (p.His333=)
c.993C>T (p.His331=)
n.3923C>T
n.3909C>T
 gnomAD v4
15g.48756290G>CCA392343041CEP152c.2958C>G (p.His986Gln)
c.2679C>G (p.His893Gln)
c.999C>G (p.His333Gln)
c.993C>G (p.His331Gln)
n.3923C>G
n.3909C>G
15g.48756290G=CA2175629004CEP152c.2958C= (p.His986=)
c.2679C= (p.His893=)
c.999C= (p.His333=)
c.993C= (p.His331=)
n.3923C=
n.3909C=
15g.48756290G>TCA7548440CEP152c.2958C>A (p.His986Gln)
c.2679C>A (p.His893Gln)
c.999C>A (p.His333Gln)
c.993C>A (p.His331Gln)
n.3923C>A
n.3909C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756291T>ACA392343043CEP152c.2957A>T (p.His986Leu)
c.2678A>T (p.His893Leu)
c.998A>T (p.His333Leu)
c.992A>T (p.His331Leu)
n.3922A>T
n.3908A>T
 gnomAD v4
15g.48756291T>CCA392343044CEP152c.2957A>G (p.His986Arg)
c.2678A>G (p.His893Arg)
c.998A>G (p.His333Arg)
c.992A>G (p.His331Arg)
n.3922A>G
n.3908A>G
 dbSNP
15g.48756291T>GCA392343042CEP152c.2957A>C (p.His986Pro)
c.2678A>C (p.His893Pro)
c.998A>C (p.His333Pro)
c.992A>C (p.His331Pro)
n.3922A>C
n.3908A>C
 ClinVar gnomAD v4
15g.48756292G>ACA392343045CEP152c.2956C>T (p.His986Tyr)
c.2677C>T (p.His893Tyr)
c.997C>T (p.His333Tyr)
c.991C>T (p.His331Tyr)
n.3921C>T
n.3907C>T
15g.48756292G>CCA392343047CEP152c.2956C>G (p.His986Asp)
c.2677C>G (p.His893Asp)
c.997C>G (p.His333Asp)
c.991C>G (p.His331Asp)
n.3921C>G
n.3907C>G
15g.48756292G>TCA392343046CEP152c.2956C>A (p.His986Asn)
c.2677C>A (p.His893Asn)
c.997C>A (p.His333Asn)
c.991C>A (p.His331Asn)
n.3921C>A
n.3907C>A
15g.48756293A>CCA392343048CEP152c.2955T>G (p.Asp985Glu)
c.2676T>G (p.Asp892Glu)
c.996T>G (p.Asp332Glu)
c.990T>G (p.Asp330Glu)
n.3920T>G
n.3906T>G
15g.48756293A>GCA490311307CEP152c.2955T>C (p.Asp985=)
c.2676T>C (p.Asp892=)
c.996T>C (p.Asp332=)
c.990T>C (p.Asp330=)
n.3920T>C
n.3906T>C
15g.48756293A>TCA392343049CEP152c.2955T>A (p.Asp985Glu)
c.2676T>A (p.Asp892Glu)
c.996T>A (p.Asp332Glu)
c.990T>A (p.Asp330Glu)
n.3920T>A
n.3906T>A
15g.48756294T>ACA392343050CEP152c.2954A>T (p.Asp985Val)
c.2675A>T (p.Asp892Val)
c.995A>T (p.Asp332Val)
c.989A>T (p.Asp330Val)
n.3919A>T
n.3905A>T
15g.48756294T>CCA392343051CEP152c.2954A>G (p.Asp985Gly)
c.2675A>G (p.Asp892Gly)
c.995A>G (p.Asp332Gly)
c.989A>G (p.Asp330Gly)
n.3919A>G
n.3905A>G
 dbSNP
15g.48756294T>GCA392343052CEP152c.2954A>C (p.Asp985Ala)
c.2675A>C (p.Asp892Ala)
c.995A>C (p.Asp332Ala)
c.989A>C (p.Asp330Ala)
n.3919A>C
n.3905A>C
15g.48756294T=CA2175629007CEP152c.2954A= (p.Asp985=)
c.2675A= (p.Asp892=)
c.995A= (p.Asp332=)
c.989A= (p.Asp330=)
n.3919A=
n.3905A=
15g.48756295C>ACA392343053CEP152c.2953G>T (p.Asp985Tyr)
c.2674G>T (p.Asp892Tyr)
c.994G>T (p.Asp332Tyr)
c.988G>T (p.Asp330Tyr)
n.3918G>T
n.3904G>T
 dbSNP gnomAD v3 gnomAD v4
15g.48756295C=CA2175629014CEP152c.2953G= (p.Asp985=)
c.2674G= (p.Asp892=)
c.994G= (p.Asp332=)
c.988G= (p.Asp330=)
n.3918G=
n.3904G=
15g.48756295C>GCA392343054CEP152c.2953G>C (p.Asp985His)
c.2674G>C (p.Asp892His)
c.994G>C (p.Asp332His)
c.988G>C (p.Asp330His)
n.3918G>C
n.3904G>C
15g.48756295C>TCA392343055CEP152c.2953G>A (p.Asp985Asn)
c.2674G>A (p.Asp892Asn)
c.994G>A (p.Asp332Asn)
c.988G>A (p.Asp330Asn)
n.3918G>A
n.3904G>A
15g.48756295_48756296delinsCACA2175629012CEP152c.2952_2953delinsTG (p.Asp984=)
c.2673_2674delinsTG (p.Asp891=)
c.993_994delinsTG (p.Asp331=)
c.987_988delinsTG (p.Asp329=)
n.3917_3918delinsTG
n.3903_3904delinsTG
15g.48756296delCA490311309CEP152c.2952del (p.Asp984GlufsTer19)
c.2673del (p.Asp891GlufsTer19)
c.993del (p.Asp331GlufsTer19)
c.987del (p.Asp329GlufsTer19)
n.3917del
n.3903del
 dbSNP
15g.48756296A=CA2175629017CEP152c.2952T= (p.Asp984=)
c.2673T= (p.Asp891=)
c.993T= (p.Asp331=)
c.987T= (p.Asp329=)
n.3917T=
n.3903T=
15g.48756296A>CCA392343056CEP152c.2952T>G (p.Asp984Glu)
c.2673T>G (p.Asp891Glu)
c.993T>G (p.Asp331Glu)
c.987T>G (p.Asp329Glu)
n.3917T>G
n.3903T>G
15g.48756296A>GCA490311308CEP152c.2952T>C (p.Asp984=)
c.2673T>C (p.Asp891=)
c.993T>C (p.Asp331=)
c.987T>C (p.Asp329=)
n.3917T>C
n.3903T>C
 gnomAD v4
15g.48756296A>TCA392343057CEP152c.2952T>A (p.Asp984Glu)
c.2673T>A (p.Asp891Glu)
c.993T>A (p.Asp331Glu)
c.987T>A (p.Asp329Glu)
n.3917T>A
n.3903T>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756297delCA392343058CEP152c.2951del (p.Asp984ValfsTer19)
c.2672del (p.Asp891ValfsTer19)
c.992del (p.Asp331ValfsTer19)
c.986del (p.Asp329ValfsTer19)
n.3916del
n.3902del
15g.48756297T>ACA392343061CEP152c.2951A>T (p.Asp984Val)
c.2672A>T (p.Asp891Val)
c.992A>T (p.Asp331Val)
c.986A>T (p.Asp329Val)
n.3916A>T
n.3902A>T
15g.48756297T>CCA392343060CEP152c.2951A>G (p.Asp984Gly)
c.2672A>G (p.Asp891Gly)
c.992A>G (p.Asp331Gly)
c.986A>G (p.Asp329Gly)
n.3916A>G
n.3902A>G
 dbSNP gnomAD v4
15g.48756297T>GCA392343059CEP152c.2951A>C (p.Asp984Ala)
c.2672A>C (p.Asp891Ala)
c.992A>C (p.Asp331Ala)
c.986A>C (p.Asp329Ala)
n.3916A>C
n.3902A>C
15g.48756297T=CA2175629022CEP152c.2951A= (p.Asp984=)
c.2672A= (p.Asp891=)
c.992A= (p.Asp331=)
c.986A= (p.Asp329=)
n.3916A=
n.3902A=
15g.48756298C>ACA392343062CEP152c.2950G>T (p.Asp984Tyr)
c.2671G>T (p.Asp891Tyr)
c.991G>T (p.Asp331Tyr)
c.985G>T (p.Asp329Tyr)
n.3915G>T
n.3901G>T
15g.48756298C>GCA392343063CEP152c.2950G>C (p.Asp984His)
c.2671G>C (p.Asp891His)
c.991G>C (p.Asp331His)
c.985G>C (p.Asp329His)
n.3915G>C
n.3901G>C
 ClinVar
15g.48756298C>TCA392343064CEP152c.2950G>A (p.Asp984Asn)
c.2671G>A (p.Asp891Asn)
c.991G>A (p.Asp331Asn)
c.985G>A (p.Asp329Asn)
n.3915G>A
n.3901G>A
15g.48756299T>ACA392343065CEP152c.2949A>T (p.Leu983Phe)
c.2670A>T (p.Leu890Phe)
c.990A>T (p.Leu330Phe)
c.984A>T (p.Leu328Phe)
n.3914A>T
n.3900A>T
15g.48756299T>CCA490311310CEP152c.2949A>G (p.Leu983=)
c.2670A>G (p.Leu890=)
c.990A>G (p.Leu330=)
c.984A>G (p.Leu328=)
n.3914A>G
n.3900A>G
15g.48756299T>GCA392343066CEP152c.2949A>C (p.Leu983Phe)
c.2670A>C (p.Leu890Phe)
c.990A>C (p.Leu330Phe)
c.984A>C (p.Leu328Phe)
n.3914A>C
n.3900A>C
15g.48756300A=CA2175629028CEP152c.2948T= (p.Leu983=)
c.2669T= (p.Leu890=)
c.989T= (p.Leu330=)
c.983T= (p.Leu328=)
n.3913T=
n.3899T=
15g.48756300A>CCA392343067CEP152c.2948T>G (p.Leu983Ter)
c.2669T>G (p.Leu890Ter)
c.989T>G (p.Leu330Ter)
c.983T>G (p.Leu328Ter)
n.3913T>G
n.3899T>G
15g.48756300A>GCA392343068CEP152c.2948T>C (p.Leu983Ser)
c.2669T>C (p.Leu890Ser)
c.989T>C (p.Leu330Ser)
c.983T>C (p.Leu328Ser)
n.3913T>C
n.3899T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756300A>TCA392343069CEP152c.2948T>A (p.Leu983Ter)
c.2669T>A (p.Leu890Ter)
c.989T>A (p.Leu330Ter)
c.983T>A (p.Leu328Ter)
n.3913T>A
n.3899T>A
15g.48756301A>CCA392343070CEP152c.2947T>G (p.Leu983Val)
c.2668T>G (p.Leu890Val)
c.988T>G (p.Leu330Val)
c.982T>G (p.Leu328Val)
n.3912T>G
n.3898T>G
15g.48756301A>GCA490311311CEP152c.2947T>C (p.Leu983=)
c.2668T>C (p.Leu890=)
c.988T>C (p.Leu330=)
c.982T>C (p.Leu328=)
n.3912T>C
n.3898T>C
15g.48756301A>TCA392343071CEP152c.2947T>A (p.Leu983Ile)
c.2668T>A (p.Leu890Ile)
c.988T>A (p.Leu330Ile)
c.982T>A (p.Leu328Ile)
n.3912T>A
n.3898T>A
15g.48756302A>CCA392343072CEP152c.2946T>G (p.Phe982Leu)
c.2667T>G (p.Phe889Leu)
c.987T>G (p.Phe329Leu)
c.981T>G (p.Phe327Leu)
n.3911T>G
n.3897T>G
15g.48756302A>GCA490311312CEP152c.2946T>C (p.Phe982=)
c.2667T>C (p.Phe889=)
c.987T>C (p.Phe329=)
c.981T>C (p.Phe327=)
n.3911T>C
n.3897T>C
15g.48756302A>TCA392343073CEP152c.2946T>A (p.Phe982Leu)
c.2667T>A (p.Phe889Leu)
c.987T>A (p.Phe329Leu)
c.981T>A (p.Phe327Leu)
n.3911T>A
n.3897T>A
15g.48756303A=CA2175629031CEP152c.2945T= (p.Phe982=)
c.2666T= (p.Phe889=)
c.986T= (p.Phe329=)
c.980T= (p.Phe327=)
n.3910T=
n.3896T=
15g.48756303A>CCA392343076CEP152c.2945T>G (p.Phe982Cys)
c.2666T>G (p.Phe889Cys)
c.986T>G (p.Phe329Cys)
c.980T>G (p.Phe327Cys)
n.3910T>G
n.3896T>G
15g.48756303A>GCA392343075CEP152c.2945T>C (p.Phe982Ser)
c.2666T>C (p.Phe889Ser)
c.986T>C (p.Phe329Ser)
c.980T>C (p.Phe327Ser)
n.3910T>C
n.3896T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756303A>TCA392343074CEP152c.2945T>A (p.Phe982Tyr)
c.2666T>A (p.Phe889Tyr)
c.986T>A (p.Phe329Tyr)
c.980T>A (p.Phe327Tyr)
n.3910T>A
n.3896T>A
15g.48756304A>CCA392343079CEP152c.2944T>G (p.Phe982Val)
c.2665T>G (p.Phe889Val)
c.985T>G (p.Phe329Val)
c.979T>G (p.Phe327Val)
n.3909T>G
n.3895T>G
15g.48756304A>GCA392343077CEP152c.2944T>C (p.Phe982Leu)
c.2665T>C (p.Phe889Leu)
c.985T>C (p.Phe329Leu)
c.979T>C (p.Phe327Leu)
n.3909T>C
n.3895T>C
15g.48756304A>TCA392343078CEP152c.2944T>A (p.Phe982Ile)
c.2665T>A (p.Phe889Ile)
c.985T>A (p.Phe329Ile)
c.979T>A (p.Phe327Ile)
n.3909T>A
n.3895T>A
15g.48756305T>ACA392343080CEP152c.2943A>T (p.Gln981His)
c.2664A>T (p.Gln888His)
c.984A>T (p.Gln328His)
c.978A>T (p.Gln326His)
n.3908A>T
n.3894A>T
15g.48756305T>CCA490311313CEP152c.2943A>G (p.Gln981=)
c.2664A>G (p.Gln888=)
c.984A>G (p.Gln328=)
c.978A>G (p.Gln326=)
n.3908A>G
n.3894A>G
 gnomAD v4
15g.48756305T>GCA392343081CEP152c.2943A>C (p.Gln981His)
c.2664A>C (p.Gln888His)
c.984A>C (p.Gln328His)
c.978A>C (p.Gln326His)
n.3908A>C
n.3894A>C
15g.48756306T>ACA392343082CEP152c.2942A>T (p.Gln981Leu)
c.2663A>T (p.Gln888Leu)
c.983A>T (p.Gln328Leu)
c.977A>T (p.Gln326Leu)
n.3907A>T
n.3893A>T
15g.48756306T>CCA392343083CEP152c.2942A>G (p.Gln981Arg)
c.2663A>G (p.Gln888Arg)
c.983A>G (p.Gln328Arg)
c.977A>G (p.Gln326Arg)
n.3907A>G
n.3893A>G
 gnomAD v4
15g.48756306T>GCA392343084CEP152c.2942A>C (p.Gln981Pro)
c.2663A>C (p.Gln888Pro)
c.983A>C (p.Gln328Pro)
c.977A>C (p.Gln326Pro)
n.3907A>C
n.3893A>C
15g.48756307G>ACA392343085CEP152c.2941C>T (p.Gln981Ter)
c.2662C>T (p.Gln888Ter)
c.982C>T (p.Gln328Ter)
c.976C>T (p.Gln326Ter)
n.3906C>T
n.3892C>T
 gnomAD v4
15g.48756307G>CCA392343086CEP152c.2941C>G (p.Gln981Glu)
c.2662C>G (p.Gln888Glu)
c.982C>G (p.Gln328Glu)
c.976C>G (p.Gln326Glu)
n.3906C>G
n.3892C>G
15g.48756307G>TCA392343087CEP152c.2941C>A (p.Gln981Lys)
c.2662C>A (p.Gln888Lys)
c.982C>A (p.Gln328Lys)
c.976C>A (p.Gln326Lys)
n.3906C>A
n.3892C>A
15g.48756308C>ACA490311314CEP152c.2940G>T (p.Arg980=)
c.2661G>T (p.Arg887=)
c.981G>T (p.Arg327=)
c.975G>T (p.Arg325=)
n.3905G>T
n.3891G>T
 ClinVar
15g.48756308C=CA2175629036CEP152c.2940G= (p.Arg980=)
c.2661G= (p.Arg887=)
c.981G= (p.Arg327=)
c.975G= (p.Arg325=)
n.3905G=
n.3891G=
15g.48756308C>GCA490311315CEP152c.2940G>C (p.Arg980=)
c.2661G>C (p.Arg887=)
c.981G>C (p.Arg327=)
c.975G>C (p.Arg325=)
n.3905G>C
n.3891G>C
15g.48756308C>TCA490311316CEP152c.2940G>A (p.Arg980=)
c.2661G>A (p.Arg887=)
c.981G>A (p.Arg327=)
c.975G>A (p.Arg325=)
n.3905G>A
n.3891G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756309C>ACA392343088CEP152c.2939G>T (p.Arg980Leu)
c.2660G>T (p.Arg887Leu)
c.980G>T (p.Arg327Leu)
c.974G>T (p.Arg325Leu)
n.3904G>T
n.3890G>T
15g.48756309C=CA2175629038CEP152c.2939G= (p.Arg980=)
c.2660G= (p.Arg887=)
c.980G= (p.Arg327=)
c.974G= (p.Arg325=)
n.3904G=
n.3890G=
15g.48756309C>GCA392343089CEP152c.2939G>C (p.Arg980Pro)
c.2660G>C (p.Arg887Pro)
c.980G>C (p.Arg327Pro)
c.974G>C (p.Arg325Pro)
n.3904G>C
n.3890G>C
15g.48756309C>TCA269537959CEP152c.2939G>A (p.Arg980Gln)
c.2660G>A (p.Arg887Gln)
c.980G>A (p.Arg327Gln)
c.974G>A (p.Arg325Gln)
n.3904G>A
n.3890G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756310G>ACA7548441CEP152c.2938C>T (p.Arg980Trp)
c.2659C>T (p.Arg887Trp)
c.979C>T (p.Arg327Trp)
c.973C>T (p.Arg325Trp)
n.3903C>T
n.3889C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756310G>CCA392343090CEP152c.2938C>G (p.Arg980Gly)
c.2659C>G (p.Arg887Gly)
c.979C>G (p.Arg327Gly)
c.973C>G (p.Arg325Gly)
n.3903C>G
n.3889C>G
15g.48756310G=CA2175629041CEP152c.2938C= (p.Arg980=)
c.2659C= (p.Arg887=)
c.979C= (p.Arg327=)
c.973C= (p.Arg325=)
n.3903C=
n.3889C=
15g.48756310G>TCA490311317CEP152c.2938C>A (p.Arg980=)
c.2659C>A (p.Arg887=)
c.979C>A (p.Arg327=)
c.973C>A (p.Arg325=)
n.3903C>A
n.3889C>A
15g.48756311delCA490311318CEP152c.2938del (p.Arg980GlyfsTer4)
c.2659del (p.Arg887GlyfsTer4)
c.979del (p.Arg327GlyfsTer4)
c.973del (p.Arg325GlyfsTer4)
n.3903del
n.3889del
15g.48756311G>ACA490311319CEP152c.2937C>T (p.Tyr979=)
c.2658C>T (p.Tyr886=)
c.978C>T (p.Tyr326=)
c.972C>T (p.Tyr324=)
n.3902C>T
n.3888C>T
 ClinVar gnomAD v4
15g.48756311G>CCA392343091CEP152c.2937C>G (p.Tyr979Ter)
c.2658C>G (p.Tyr886Ter)
c.978C>G (p.Tyr326Ter)
c.972C>G (p.Tyr324Ter)
n.3902C>G
n.3888C>G
15g.48756311G>TCA392343092CEP152c.2937C>A (p.Tyr979Ter)
c.2658C>A (p.Tyr886Ter)
c.978C>A (p.Tyr326Ter)
c.972C>A (p.Tyr324Ter)
n.3902C>A
n.3888C>A
15g.48756312T>ACA392343093CEP152c.2936A>T (p.Tyr979Phe)
c.2657A>T (p.Tyr886Phe)
c.977A>T (p.Tyr326Phe)
c.971A>T (p.Tyr324Phe)
n.3901A>T
n.3887A>T
15g.48756312T>CCA392343094CEP152c.2936A>G (p.Tyr979Cys)
c.2657A>G (p.Tyr886Cys)
c.977A>G (p.Tyr326Cys)
c.971A>G (p.Tyr324Cys)
n.3901A>G
n.3887A>G
15g.48756312T>GCA392343095CEP152c.2936A>C (p.Tyr979Ser)
c.2657A>C (p.Tyr886Ser)
c.977A>C (p.Tyr326Ser)
c.971A>C (p.Tyr324Ser)
n.3901A>C
n.3887A>C
15g.48756313A>CCA392343096CEP152c.2935T>G (p.Tyr979Asp)
c.2656T>G (p.Tyr886Asp)
c.976T>G (p.Tyr326Asp)
c.970T>G (p.Tyr324Asp)
n.3900T>G
n.3886T>G
15g.48756313A>GCA392343097CEP152c.2935T>C (p.Tyr979His)
c.2656T>C (p.Tyr886His)
c.976T>C (p.Tyr326His)
c.970T>C (p.Tyr324His)
n.3900T>C
n.3886T>C
15g.48756313A>TCA392343098CEP152c.2935T>A (p.Tyr979Asn)
c.2656T>A (p.Tyr886Asn)
c.976T>A (p.Tyr326Asn)
c.970T>A (p.Tyr324Asn)
n.3900T>A
n.3886T>A
 gnomAD v4
15g.48756314A>CCA392343099CEP152c.2934T>G (p.Asp978Glu)
c.2655T>G (p.Asp885Glu)
c.975T>G (p.Asp325Glu)
c.969T>G (p.Asp323Glu)
n.3899T>G
n.3885T>G
15g.48756314A>GCA490311320CEP152c.2934T>C (p.Asp978=)
c.2655T>C (p.Asp885=)
c.975T>C (p.Asp325=)
c.969T>C (p.Asp323=)
n.3899T>C
n.3885T>C
 gnomAD v4
15g.48756314A>TCA392343100CEP152c.2934T>A (p.Asp978Glu)
c.2655T>A (p.Asp885Glu)
c.975T>A (p.Asp325Glu)
c.969T>A (p.Asp323Glu)
n.3899T>A
n.3885T>A
15g.48756315T>ACA392343101CEP152c.2933A>T (p.Asp978Val)
c.2654A>T (p.Asp885Val)
c.974A>T (p.Asp325Val)
c.968A>T (p.Asp323Val)
n.3898A>T
n.3884A>T
 dbSNP
15g.48756315T>CCA7548442CEP152c.2933A>G (p.Asp978Gly)
c.2654A>G (p.Asp885Gly)
c.974A>G (p.Asp325Gly)
c.968A>G (p.Asp323Gly)
n.3898A>G
n.3884A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756315T>GCA392343102CEP152c.2933A>C (p.Asp978Ala)
c.2654A>C (p.Asp885Ala)
c.974A>C (p.Asp325Ala)
c.968A>C (p.Asp323Ala)
n.3898A>C
n.3884A>C
15g.48756315T=CA2175629046CEP152c.2933A= (p.Asp978=)
c.2654A= (p.Asp885=)
c.974A= (p.Asp325=)
c.968A= (p.Asp323=)
n.3898A=
n.3884A=
15g.48756316C>ACA392343103CEP152c.2932G>T (p.Asp978Tyr)
c.2653G>T (p.Asp885Tyr)
c.973G>T (p.Asp325Tyr)
c.967G>T (p.Asp323Tyr)
n.3897G>T
n.3883G>T
15g.48756316C=CA2175629048CEP152c.2932G= (p.Asp978=)
c.2653G= (p.Asp885=)
c.973G= (p.Asp325=)
c.967G= (p.Asp323=)
n.3897G=
n.3883G=
15g.48756316C>GCA392343104CEP152c.2932G>C (p.Asp978His)
c.2653G>C (p.Asp885His)
c.973G>C (p.Asp325His)
c.967G>C (p.Asp323His)
n.3897G>C
n.3883G>C
15g.48756316C>TCA269537979CEP152c.2932G>A (p.Asp978Asn)
c.2653G>A (p.Asp885Asn)
c.973G>A (p.Asp325Asn)
c.967G>A (p.Asp323Asn)
n.3897G>A
n.3883G>A
 dbSNP
15g.48756317T>ACA392343105CEP152c.2931A>T (p.Gln977His)
c.2652A>T (p.Gln884His)
c.972A>T (p.Gln324His)
c.966A>T (p.Gln322His)
n.3896A>T
n.3882A>T
 dbSNP gnomAD v2
15g.48756317T>CCA490311321CEP152c.2931A>G (p.Gln977=)
c.2652A>G (p.Gln884=)
c.972A>G (p.Gln324=)
c.966A>G (p.Gln322=)
n.3896A>G
n.3882A>G
15g.48756317T>GCA392343106CEP152c.2931A>C (p.Gln977His)
c.2652A>C (p.Gln884His)
c.972A>C (p.Gln324His)
c.966A>C (p.Gln322His)
n.3896A>C
n.3882A>C
15g.48756317T=CA2175629053CEP152c.2931A= (p.Gln977=)
c.2652A= (p.Gln884=)
c.972A= (p.Gln324=)
c.966A= (p.Gln322=)
n.3896A=
n.3882A=
15g.48756318T>ACA392343107CEP152c.2930A>T (p.Gln977Leu)
c.2651A>T (p.Gln884Leu)
c.971A>T (p.Gln324Leu)
c.965A>T (p.Gln322Leu)
n.3895A>T
n.3881A>T
15g.48756318T>CCA392343108CEP152c.2930A>G (p.Gln977Arg)
c.2651A>G (p.Gln884Arg)
c.971A>G (p.Gln324Arg)
c.965A>G (p.Gln322Arg)
n.3895A>G
n.3881A>G
15g.48756318T>GCA392343109CEP152c.2930A>C (p.Gln977Pro)
c.2651A>C (p.Gln884Pro)
c.971A>C (p.Gln324Pro)
c.965A>C (p.Gln322Pro)
n.3895A>C
n.3881A>C
15g.48756318_48756319delinsTGCA2175629058CEP152c.2929_2930delinsCA (p.Gln977=)
c.2650_2651delinsCA (p.Gln884=)
c.970_971delinsCA (p.Gln324=)
c.964_965delinsCA (p.Gln322=)
n.3894_3895delinsCA
n.3880_3881delinsCA
15g.48756319delCA7548443CEP152c.2929del (p.Gln977LysfsTer7)
c.2650del (p.Gln884LysfsTer7)
c.970del (p.Gln324LysfsTer7)
c.964del (p.Gln322LysfsTer7)
n.3894del
n.3880del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756319G>ACA392343110CEP152c.2929C>T (p.Gln977Ter)
c.2650C>T (p.Gln884Ter)
c.970C>T (p.Gln324Ter)
c.964C>T (p.Gln322Ter)
n.3894C>T
n.3880C>T
15g.48756319G>CCA269537980CEP152c.2929C>G (p.Gln977Glu)
c.2650C>G (p.Gln884Glu)
c.970C>G (p.Gln324Glu)
c.964C>G (p.Gln322Glu)
n.3894C>G
n.3880C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756319G=CA2175629061CEP152c.2929C= (p.Gln977=)
c.2650C= (p.Gln884=)
c.970C= (p.Gln324=)
c.964C= (p.Gln322=)
n.3894C=
n.3880C=
15g.48756319G>TCA392343111CEP152c.2929C>A (p.Gln977Lys)
c.2650C>A (p.Gln884Lys)
c.970C>A (p.Gln324Lys)
c.964C>A (p.Gln322Lys)
n.3894C>A
n.3880C>A
15g.48756320C>ACA392343112CEP152c.2928G>T (p.Glu976Asp)
c.2649G>T (p.Glu883Asp)
c.969G>T (p.Glu323Asp)
c.963G>T (p.Glu321Asp)
n.3893G>T
n.3879G>T
 dbSNP
15g.48756320C=CA2175629066CEP152c.2928G= (p.Glu976=)
c.2649G= (p.Glu883=)
c.969G= (p.Glu323=)
c.963G= (p.Glu321=)
n.3893G=
n.3879G=
15g.48756320C>GCA392343113CEP152c.2928G>C (p.Glu976Asp)
c.2649G>C (p.Glu883Asp)
c.969G>C (p.Glu323Asp)
c.963G>C (p.Glu321Asp)
n.3893G>C
n.3879G>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756320C>TCA7548444CEP152c.2928G>A (p.Glu976=)
c.2649G>A (p.Glu883=)
c.969G>A (p.Glu323=)
c.963G>A (p.Glu321=)
n.3893G>A
n.3879G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756321T>ACA392343114CEP152c.2927A>T (p.Glu976Val)
c.2648A>T (p.Glu883Val)
c.968A>T (p.Glu323Val)
c.962A>T (p.Glu321Val)
n.3892A>T
n.3878A>T
 gnomAD v4
15g.48756321T>CCA392343115CEP152c.2927A>G (p.Glu976Gly)
c.2648A>G (p.Glu883Gly)
c.968A>G (p.Glu323Gly)
c.962A>G (p.Glu321Gly)
n.3892A>G
n.3878A>G
15g.48756321T>GCA392343116CEP152c.2927A>C (p.Glu976Ala)
c.2648A>C (p.Glu883Ala)
c.968A>C (p.Glu323Ala)
c.962A>C (p.Glu321Ala)
n.3892A>C
n.3878A>C
15g.48756322C>ACA392343117CEP152c.2926G>T (p.Glu976Ter)
c.2647G>T (p.Glu883Ter)
c.967G>T (p.Glu323Ter)
c.961G>T (p.Glu321Ter)
n.3891G>T
n.3877G>T
15g.48756322C>GCA392343119CEP152c.2926G>C (p.Glu976Gln)
c.2647G>C (p.Glu883Gln)
c.967G>C (p.Glu323Gln)
c.961G>C (p.Glu321Gln)
n.3891G>C
n.3877G>C
15g.48756322C>TCA392343118CEP152c.2926G>A (p.Glu976Lys)
c.2647G>A (p.Glu883Lys)
c.967G>A (p.Glu323Lys)
c.961G>A (p.Glu321Lys)
n.3891G>A
n.3877G>A
15g.48756323A=CA2175629070CEP152c.2925T= (p.Asn975=)
c.2646T= (p.Asn882=)
c.966T= (p.Asn322=)
c.960T= (p.Asn320=)
n.3890T=
n.3876T=
15g.48756323A>CCA269537984CEP152c.2925T>G (p.Asn975Lys)
c.2646T>G (p.Asn882Lys)
c.966T>G (p.Asn322Lys)
c.960T>G (p.Asn320Lys)
n.3890T>G
n.3876T>G
 dbSNP gnomAD v4
15g.48756323A>GCA490311322CEP152c.2925T>C (p.Asn975=)
c.2646T>C (p.Asn882=)
c.966T>C (p.Asn322=)
c.960T>C (p.Asn320=)
n.3890T>C
n.3876T>C
15g.48756323A>TCA392343120CEP152c.2925T>A (p.Asn975Lys)
c.2646T>A (p.Asn882Lys)
c.966T>A (p.Asn322Lys)
c.960T>A (p.Asn320Lys)
n.3890T>A
n.3876T>A
15g.48756324T>ACA392343121CEP152c.2924A>T (p.Asn975Ile)
c.2645A>T (p.Asn882Ile)
c.965A>T (p.Asn322Ile)
c.959A>T (p.Asn320Ile)
n.3889A>T
n.3875A>T
15g.48756324T>CCA392343122CEP152c.2924A>G (p.Asn975Ser)
c.2645A>G (p.Asn882Ser)
c.965A>G (p.Asn322Ser)
c.959A>G (p.Asn320Ser)
n.3889A>G
n.3875A>G
15g.48756324T>GCA392343123CEP152c.2924A>C (p.Asn975Thr)
c.2645A>C (p.Asn882Thr)
c.965A>C (p.Asn322Thr)
c.959A>C (p.Asn320Thr)
n.3889A>C
n.3875A>C
15g.48756325T>ACA392343124CEP152c.2923A>T (p.Asn975Tyr)
c.2644A>T (p.Asn882Tyr)
c.964A>T (p.Asn322Tyr)
c.958A>T (p.Asn320Tyr)
n.3888A>T
n.3874A>T
15g.48756325T>CCA392343125CEP152c.2923A>G (p.Asn975Asp)
c.2644A>G (p.Asn882Asp)
c.964A>G (p.Asn322Asp)
c.958A>G (p.Asn320Asp)
n.3888A>G
n.3874A>G
 gnomAD v4
15g.48756325T>GCA392343126CEP152c.2923A>C (p.Asn975His)
c.2644A>C (p.Asn882His)
c.964A>C (p.Asn322His)
c.958A>C (p.Asn320His)
n.3888A>C
n.3874A>C
15g.48756326T>ACA392343127CEP152c.2922A>T (p.Gln974His)
c.2643A>T (p.Gln881His)
c.963A>T (p.Gln321His)
c.957A>T (p.Gln319His)
n.3887A>T
n.3873A>T
15g.48756326T>CCA490311323CEP152c.2922A>G (p.Gln974=)
c.2643A>G (p.Gln881=)
c.963A>G (p.Gln321=)
c.957A>G (p.Gln319=)
n.3887A>G
n.3873A>G
15g.48756326T>GCA392343128CEP152c.2922A>C (p.Gln974His)
c.2643A>C (p.Gln881His)
c.963A>C (p.Gln321His)
c.957A>C (p.Gln319His)
n.3887A>C
n.3873A>C
15g.48756327T>ACA392343131CEP152c.2921A>T (p.Gln974Leu)
c.2642A>T (p.Gln881Leu)
c.962A>T (p.Gln321Leu)
c.956A>T (p.Gln319Leu)
n.3886A>T
n.3872A>T
15g.48756327T>CCA392343130CEP152c.2921A>G (p.Gln974Arg)
c.2642A>G (p.Gln881Arg)
c.962A>G (p.Gln321Arg)
c.956A>G (p.Gln319Arg)
n.3886A>G
n.3872A>G
15g.48756327T>GCA392343129CEP152c.2921A>C (p.Gln974Pro)
c.2642A>C (p.Gln881Pro)
c.962A>C (p.Gln321Pro)
c.956A>C (p.Gln319Pro)
n.3886A>C
n.3872A>C
15g.48756328G>ACA7548446CEP152c.2920C>T (p.Gln974Ter)
c.2641C>T (p.Gln881Ter)
c.961C>T (p.Gln321Ter)
c.955C>T (p.Gln319Ter)
n.3885C>T
n.3871C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756328G>CCA392343132CEP152c.2920C>G (p.Gln974Glu)
c.2641C>G (p.Gln881Glu)
c.961C>G (p.Gln321Glu)
c.955C>G (p.Gln319Glu)
n.3885C>G
n.3871C>G
15g.48756328G=CA2175629077CEP152c.2920C= (p.Gln974=)
c.2641C= (p.Gln881=)
c.961C= (p.Gln321=)
c.955C= (p.Gln319=)
n.3885C=
n.3871C=
15g.48756328G>TCA7548445CEP152c.2920C>A (p.Gln974Lys)
c.2641C>A (p.Gln881Lys)
c.961C>A (p.Gln321Lys)
c.955C>A (p.Gln319Lys)
n.3885C>A
n.3871C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756329T>ACA392343133CEP152c.2919A>T (p.Glu973Asp)
c.2640A>T (p.Glu880Asp)
c.960A>T (p.Glu320Asp)
c.954A>T (p.Glu318Asp)
n.3884A>T
n.3870A>T
15g.48756329T>CCA7548447CEP152c.2919A>G (p.Glu973=)
c.2640A>G (p.Glu880=)
c.960A>G (p.Glu320=)
c.954A>G (p.Glu318=)
n.3884A>G
n.3870A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756329T>GCA392343134CEP152c.2919A>C (p.Glu973Asp)
c.2640A>C (p.Glu880Asp)
c.960A>C (p.Glu320Asp)
c.954A>C (p.Glu318Asp)
n.3884A>C
n.3870A>C
15g.48756329T=CA2175629083CEP152c.2919A= (p.Glu973=)
c.2640A= (p.Glu880=)
c.960A= (p.Glu320=)
c.954A= (p.Glu318=)
n.3884A=
n.3870A=
15g.48756330T>ACA392343135CEP152c.2918A>T (p.Glu973Val)
c.2639A>T (p.Glu880Val)
c.959A>T (p.Glu320Val)
c.953A>T (p.Glu318Val)
n.3883A>T
n.3869A>T
15g.48756330T>CCA392343136CEP152c.2918A>G (p.Glu973Gly)
c.2639A>G (p.Glu880Gly)
c.959A>G (p.Glu320Gly)
c.953A>G (p.Glu318Gly)
n.3883A>G
n.3869A>G
15g.48756330T>GCA392343137CEP152c.2918A>C (p.Glu973Ala)
c.2639A>C (p.Glu880Ala)
c.959A>C (p.Glu320Ala)
c.953A>C (p.Glu318Ala)
n.3883A>C
n.3869A>C
15g.48756331C>ACA392343138CEP152c.2917G>T (p.Glu973Ter)
c.2638G>T (p.Glu880Ter)
c.958G>T (p.Glu320Ter)
c.952G>T (p.Glu318Ter)
n.3882G>T
n.3868G>T
15g.48756331C>GCA392343139CEP152c.2917G>C (p.Glu973Gln)
c.2638G>C (p.Glu880Gln)
c.958G>C (p.Glu320Gln)
c.952G>C (p.Glu318Gln)
n.3882G>C
n.3868G>C
15g.48756331C>TCA392343140CEP152c.2917G>A (p.Glu973Lys)
c.2638G>A (p.Glu880Lys)
c.958G>A (p.Glu320Lys)
c.952G>A (p.Glu318Lys)
n.3882G>A
n.3868G>A
 COSMIC
15g.48756332T>ACA392343142CEP152c.2916A>T (p.Gln972His)
c.2637A>T (p.Gln879His)
c.957A>T (p.Gln319His)
c.951A>T (p.Gln317His)
n.3881A>T
n.3867A>T
15g.48756332T>CCA490311324CEP152c.2916A>G (p.Gln972=)
c.2637A>G (p.Gln879=)
c.957A>G (p.Gln319=)
c.951A>G (p.Gln317=)
n.3881A>G
n.3867A>G
15g.48756332T>GCA392343141CEP152c.2916A>C (p.Gln972His)
c.2637A>C (p.Gln879His)
c.957A>C (p.Gln319His)
c.951A>C (p.Gln317His)
n.3881A>C
n.3867A>C
15g.48756333T>ACA392343143CEP152c.2915A>T (p.Gln972Leu)
c.2636A>T (p.Gln879Leu)
c.956A>T (p.Gln319Leu)
c.950A>T (p.Gln317Leu)
n.3880A>T
n.3866A>T
15g.48756333T>CCA392343144CEP152c.2915A>G (p.Gln972Arg)
c.2636A>G (p.Gln879Arg)
c.956A>G (p.Gln319Arg)
c.950A>G (p.Gln317Arg)
n.3880A>G
n.3866A>G
15g.48756333T>GCA392343145CEP152c.2915A>C (p.Gln972Pro)
c.2636A>C (p.Gln879Pro)
c.956A>C (p.Gln319Pro)
c.950A>C (p.Gln317Pro)
n.3880A>C
n.3866A>C
 gnomAD v4
15g.48756334G>ACA392343146CEP152c.2914C>T (p.Gln972Ter)
c.2635C>T (p.Gln879Ter)
c.955C>T (p.Gln319Ter)
c.949C>T (p.Gln317Ter)
n.3879C>T
n.3865C>T
15g.48756334G>CCA392343147CEP152c.2914C>G (p.Gln972Glu)
c.2635C>G (p.Gln879Glu)
c.955C>G (p.Gln319Glu)
c.949C>G (p.Gln317Glu)
n.3879C>G
n.3865C>G
15g.48756334G>TCA392343148CEP152c.2914C>A (p.Gln972Lys)
c.2635C>A (p.Gln879Lys)
c.955C>A (p.Gln319Lys)
c.949C>A (p.Gln317Lys)
n.3879C>A
n.3865C>A
15g.48756335G>ACA490311325CEP152c.2913C>T (p.Ile971=)
c.2634C>T (p.Ile878=)
c.954C>T (p.Ile318=)
c.948C>T (p.Ile316=)
n.3878C>T
n.3864C>T
15g.48756335G>CCA392343149CEP152c.2913C>G (p.Ile971Met)
c.2634C>G (p.Ile878Met)
c.954C>G (p.Ile318Met)
c.948C>G (p.Ile316Met)
n.3878C>G
n.3864C>G
 COSMIC COSMIC
15g.48756335G>TCA490311326CEP152c.2913C>A (p.Ile971=)
c.2634C>A (p.Ile878=)
c.954C>A (p.Ile318=)
c.948C>A (p.Ile316=)
n.3878C>A
n.3864C>A
15g.48756336A>CCA392343150CEP152c.2912T>G (p.Ile971Ser)
c.2633T>G (p.Ile878Ser)
c.953T>G (p.Ile318Ser)
c.947T>G (p.Ile316Ser)
n.3877T>G
n.3863T>G
15g.48756336A>GCA392343151CEP152c.2912T>C (p.Ile971Thr)
c.2633T>C (p.Ile878Thr)
c.953T>C (p.Ile318Thr)
c.947T>C (p.Ile316Thr)
n.3877T>C
n.3863T>C
15g.48756336A>TCA392343152CEP152c.2912T>A (p.Ile971Asn)
c.2633T>A (p.Ile878Asn)
c.953T>A (p.Ile318Asn)
c.947T>A (p.Ile316Asn)
n.3877T>A
n.3863T>A
15g.48756337T>ACA392343153CEP152c.2911A>T (p.Ile971Phe)
c.2632A>T (p.Ile878Phe)
c.952A>T (p.Ile318Phe)
c.946A>T (p.Ile316Phe)
n.3876A>T
n.3862A>T
15g.48756337T>CCA392343154CEP152c.2911A>G (p.Ile971Val)
c.2632A>G (p.Ile878Val)
c.952A>G (p.Ile318Val)
c.946A>G (p.Ile316Val)
n.3876A>G
n.3862A>G
15g.48756337T>GCA269538028CEP152c.2911A>C (p.Ile971Leu)
c.2632A>C (p.Ile878Leu)
c.952A>C (p.Ile318Leu)
c.946A>C (p.Ile316Leu)
n.3876A>C
n.3862A>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756337T=CA2175629085CEP152c.2911A= (p.Ile971=)
c.2632A= (p.Ile878=)
c.952A= (p.Ile318=)
c.946A= (p.Ile316=)
n.3876A=
n.3862A=
15g.48756338T>ACA392343155CEP152c.2910A>T (p.Arg970Ser)
c.2631A>T (p.Arg877Ser)
c.951A>T (p.Arg317Ser)
c.945A>T (p.Arg315Ser)
n.3875A>T
n.3861A>T
 gnomAD v4
15g.48756338T>CCA490311327CEP152c.2910A>G (p.Arg970=)
c.2631A>G (p.Arg877=)
c.951A>G (p.Arg317=)
c.945A>G (p.Arg315=)
n.3875A>G
n.3861A>G
15g.48756338T>GCA392343156CEP152c.2910A>C (p.Arg970Ser)
c.2631A>C (p.Arg877Ser)
c.951A>C (p.Arg317Ser)
c.945A>C (p.Arg315Ser)
n.3875A>C
n.3861A>C
15g.48756339C>ACA392343157CEP152c.2909G>T (p.Arg970Ile)
c.2630G>T (p.Arg877Ile)
c.950G>T (p.Arg317Ile)
c.944G>T (p.Arg315Ile)
n.3874G>T
n.3860G>T
15g.48756339C>GCA392343159CEP152c.2909G>C (p.Arg970Thr)
c.2630G>C (p.Arg877Thr)
c.950G>C (p.Arg317Thr)
c.944G>C (p.Arg315Thr)
n.3874G>C
n.3860G>C
15g.48756339C>TCA392343158CEP152c.2909G>A (p.Arg970Lys)
c.2630G>A (p.Arg877Lys)
c.950G>A (p.Arg317Lys)
c.944G>A (p.Arg315Lys)
n.3874G>A
n.3860G>A
15g.48756340T>ACA392343160CEP152c.2908A>T (p.Arg970Ter)
c.2629A>T (p.Arg877Ter)
c.949A>T (p.Arg317Ter)
c.943A>T (p.Arg315Ter)
n.3873A>T
n.3859A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756340T>CCA392343161CEP152c.2908A>G (p.Arg970Gly)
c.2629A>G (p.Arg877Gly)
c.949A>G (p.Arg317Gly)
c.943A>G (p.Arg315Gly)
n.3873A>G
n.3859A>G
15g.48756340T>GCA490311328CEP152c.2908A>C (p.Arg970=)
c.2629A>C (p.Arg877=)
c.949A>C (p.Arg317=)
c.943A>C (p.Arg315=)
n.3873A>C
n.3859A>C
15g.48756340T=CA2175629088CEP152c.2908A= (p.Arg970=)
c.2629A= (p.Arg877=)
c.949A= (p.Arg317=)
c.943A= (p.Arg315=)
n.3873A=
n.3859A=
15g.48756341G>ACA490311329CEP152c.2907C>T (p.His969=)
c.2628C>T (p.His876=)
c.948C>T (p.His316=)
c.942C>T (p.His314=)
n.3872C>T
n.3858C>T
15g.48756341G>CCA392343162CEP152c.2907C>G (p.His969Gln)
c.2628C>G (p.His876Gln)
c.948C>G (p.His316Gln)
c.942C>G (p.His314Gln)
n.3872C>G
n.3858C>G
15g.48756341G>TCA392343163CEP152c.2907C>A (p.His969Gln)
c.2628C>A (p.His876Gln)
c.948C>A (p.His316Gln)
c.942C>A (p.His314Gln)
n.3872C>A
n.3858C>A
15g.48756342T>ACA392343164CEP152c.2906A>T (p.His969Leu)
c.2627A>T (p.His876Leu)
c.947A>T (p.His316Leu)
c.941A>T (p.His314Leu)
n.3871A>T
n.3857A>T
15g.48756342T>CCA392343165CEP152c.2906A>G (p.His969Arg)
c.2627A>G (p.His876Arg)
c.947A>G (p.His316Arg)
c.941A>G (p.His314Arg)
n.3871A>G
n.3857A>G
15g.48756342T>GCA392343166CEP152c.2906A>C (p.His969Pro)
c.2627A>C (p.His876Pro)
c.947A>C (p.His316Pro)
c.941A>C (p.His314Pro)
n.3871A>C
n.3857A>C
15g.48756343G>ACA7548448CEP152c.2905C>T (p.His969Tyr)
c.2626C>T (p.His876Tyr)
c.946C>T (p.His316Tyr)
c.940C>T (p.His314Tyr)
n.3870C>T
n.3856C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756343G>CCA392343167CEP152c.2905C>G (p.His969Asp)
c.2626C>G (p.His876Asp)
c.946C>G (p.His316Asp)
c.940C>G (p.His314Asp)
n.3870C>G
n.3856C>G
15g.48756343G=CA2175629091CEP152c.2905C= (p.His969=)
c.2626C= (p.His876=)
c.946C= (p.His316=)
c.940C= (p.His314=)
n.3870C=
n.3856C=
15g.48756343G>TCA392343168CEP152c.2905C>A (p.His969Asn)
c.2626C>A (p.His876Asn)
c.946C>A (p.His316Asn)
c.940C>A (p.His314Asn)
n.3870C>A
n.3856C>A
15g.48756344G>ACA490311330CEP152c.2904C>T (p.Ile968=)
c.2625C>T (p.Ile875=)
c.945C>T (p.Ile315=)
c.939C>T (p.Ile313=)
n.3869C>T
n.3855C>T
 gnomAD v4
15g.48756344G>CCA392343169CEP152c.2904C>G (p.Ile968Met)
c.2625C>G (p.Ile875Met)
c.945C>G (p.Ile315Met)
c.939C>G (p.Ile313Met)
n.3869C>G
n.3855C>G
15g.48756344G=CA2175629095CEP152c.2904C= (p.Ile968=)
c.2625C= (p.Ile875=)
c.945C= (p.Ile315=)
c.939C= (p.Ile313=)
n.3869C=
n.3855C=
15g.48756344G>TCA490311331CEP152c.2904C>A (p.Ile968=)
c.2625C>A (p.Ile875=)
c.945C>A (p.Ile315=)
c.939C>A (p.Ile313=)
n.3869C>A
n.3855C>A
 dbSNP
15g.48756345A>CCA392343170CEP152c.2903T>G (p.Ile968Ser)
c.2624T>G (p.Ile875Ser)
c.944T>G (p.Ile315Ser)
c.938T>G (p.Ile313Ser)
n.3868T>G
n.3854T>G
15g.48756345A>GCA392343171CEP152c.2903T>C (p.Ile968Thr)
c.2624T>C (p.Ile875Thr)
c.944T>C (p.Ile315Thr)
c.938T>C (p.Ile313Thr)
n.3868T>C
n.3854T>C
15g.48756345A>TCA392343172CEP152c.2903T>A (p.Ile968Asn)
c.2624T>A (p.Ile875Asn)
c.944T>A (p.Ile315Asn)
c.938T>A (p.Ile313Asn)
n.3868T>A
n.3854T>A
15g.48756346T>ACA392343173CEP152c.2902A>T (p.Ile968Phe)
c.2623A>T (p.Ile875Phe)
c.943A>T (p.Ile315Phe)
c.937A>T (p.Ile313Phe)
n.3867A>T
n.3853A>T
15g.48756346T>CCA269538035CEP152c.2902A>G (p.Ile968Val)
c.2623A>G (p.Ile875Val)
c.943A>G (p.Ile315Val)
c.937A>G (p.Ile313Val)
n.3867A>G
n.3853A>G
 dbSNP
15g.48756346T>GCA392343174CEP152c.2902A>C (p.Ile968Leu)
c.2623A>C (p.Ile875Leu)
c.943A>C (p.Ile315Leu)
c.937A>C (p.Ile313Leu)
n.3867A>C
n.3853A>C
15g.48756346T=CA2175629098CEP152c.2902A= (p.Ile968=)
c.2623A= (p.Ile875=)
c.943A= (p.Ile315=)
c.937A= (p.Ile313=)
n.3867A=
n.3853A=
15g.48756347T>ACA392343176CEP152c.2901A>T (p.Glu967Asp)
c.2622A>T (p.Glu874Asp)
c.942A>T (p.Glu314Asp)
c.936A>T (p.Glu312Asp)
n.3866A>T
n.3852A>T
15g.48756347T>CCA10647104CEP152c.2901A>G (p.Glu967=)
c.2622A>G (p.Glu874=)
c.942A>G (p.Glu314=)
c.936A>G (p.Glu312=)
n.3866A>G
n.3852A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756347T>GCA392343175CEP152c.2901A>C (p.Glu967Asp)
c.2622A>C (p.Glu874Asp)
c.942A>C (p.Glu314Asp)
c.936A>C (p.Glu312Asp)
n.3866A>C
n.3852A>C
15g.48756347T=CA2175629107CEP152c.2901A= (p.Glu967=)
c.2622A= (p.Glu874=)
c.942A= (p.Glu314=)
c.936A= (p.Glu312=)
n.3866A=
n.3852A=
15g.48756348T>ACA392343177CEP152c.2900A>T (p.Glu967Val)
c.2621A>T (p.Glu874Val)
c.941A>T (p.Glu314Val)
c.935A>T (p.Glu312Val)
n.3865A>T
n.3851A>T
15g.48756348T>CCA392343178CEP152c.2900A>G (p.Glu967Gly)
c.2621A>G (p.Glu874Gly)
c.941A>G (p.Glu314Gly)
c.935A>G (p.Glu312Gly)
n.3865A>G
n.3851A>G
15g.48756348T>GCA392343179CEP152c.2900A>C (p.Glu967Ala)
c.2621A>C (p.Glu874Ala)
c.941A>C (p.Glu314Ala)
c.935A>C (p.Glu312Ala)
n.3865A>C
n.3851A>C
15g.48756349C>ACA392343180CEP152c.2899G>T (p.Glu967Ter)
c.2620G>T (p.Glu874Ter)
c.940G>T (p.Glu314Ter)
c.934G>T (p.Glu312Ter)
n.3864G>T
n.3850G>T
15g.48756349C=CA2175629111CEP152c.2899G= (p.Glu967=)
c.2620G= (p.Glu874=)
c.940G= (p.Glu314=)
c.934G= (p.Glu312=)
n.3864G=
n.3850G=
15g.48756349C>GCA392343181CEP152c.2899G>C (p.Glu967Gln)
c.2620G>C (p.Glu874Gln)
c.940G>C (p.Glu314Gln)
c.934G>C (p.Glu312Gln)
n.3864G>C
n.3850G>C
15g.48756349C>TCA392343182CEP152c.2899G>A (p.Glu967Lys)
c.2620G>A (p.Glu874Lys)
c.940G>A (p.Glu314Lys)
c.934G>A (p.Glu312Lys)
n.3864G>A
n.3850G>A
 dbSNP gnomAD v4
15g.48756350T>ACA392343183CEP152c.2898A>T (p.Glu966Asp)
c.2619A>T (p.Glu873Asp)
c.939A>T (p.Glu313Asp)
c.933A>T (p.Glu311Asp)
n.3863A>T
n.3849A>T
15g.48756350T>CCA269538042CEP152c.2898A>G (p.Glu966=)
c.2619A>G (p.Glu873=)
c.939A>G (p.Glu313=)
c.933A>G (p.Glu311=)
n.3863A>G
n.3849A>G
 dbSNP gnomAD v4
15g.48756350T>GCA392343184CEP152c.2898A>C (p.Glu966Asp)
c.2619A>C (p.Glu873Asp)
c.939A>C (p.Glu313Asp)
c.933A>C (p.Glu311Asp)
n.3863A>C
n.3849A>C
15g.48756350T=CA2175629114CEP152c.2898A= (p.Glu966=)
c.2619A= (p.Glu873=)
c.939A= (p.Glu313=)
c.933A= (p.Glu311=)
n.3863A=
n.3849A=
15g.48756351T>ACA392343185CEP152c.2897A>T (p.Glu966Val)
c.2618A>T (p.Glu873Val)
c.938A>T (p.Glu313Val)
c.932A>T (p.Glu311Val)
n.3862A>T
n.3848A>T
15g.48756351T>CCA269538046CEP152c.2897A>G (p.Glu966Gly)
c.2618A>G (p.Glu873Gly)
c.938A>G (p.Glu313Gly)
c.932A>G (p.Glu311Gly)
n.3862A>G
n.3848A>G
 dbSNP gnomAD v4
15g.48756351T>GCA392343186CEP152c.2897A>C (p.Glu966Ala)
c.2618A>C (p.Glu873Ala)
c.938A>C (p.Glu313Ala)
c.932A>C (p.Glu311Ala)
n.3862A>C
n.3848A>C
15g.48756351T=CA2175629120CEP152c.2897A= (p.Glu966=)
c.2618A= (p.Glu873=)
c.938A= (p.Glu313=)
c.932A= (p.Glu311=)
n.3862A=
n.3848A=
15g.48756352C>ACA392343187CEP152c.2896G>T (p.Glu966Ter)
c.2617G>T (p.Glu873Ter)
c.937G>T (p.Glu313Ter)
c.931G>T (p.Glu311Ter)
n.3861G>T
n.3847G>T
 gnomAD v4
15g.48756352C=CA2175629123CEP152c.2896G= (p.Glu966=)
c.2617G= (p.Glu873=)
c.937G= (p.Glu313=)
c.931G= (p.Glu311=)
n.3861G=
n.3847G=
15g.48756352C>GCA392343189CEP152c.2896G>C (p.Glu966Gln)
c.2617G>C (p.Glu873Gln)
c.937G>C (p.Glu313Gln)
c.931G>C (p.Glu311Gln)
n.3861G>C
n.3847G>C
 gnomAD v4
15g.48756352C>TCA392343188CEP152c.2896G>A (p.Glu966Lys)
c.2617G>A (p.Glu873Lys)
c.937G>A (p.Glu313Lys)
c.931G>A (p.Glu311Lys)
n.3861G>A
n.3847G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756355_48756358delCA2575718055CEP152c.2893_2896del (p.Gln965LysfsTer18)
c.2614_2617del (p.Gln872LysfsTer18)
c.934_937del (p.Gln312LysfsTer18)
c.928_931del (p.Gln310LysfsTer18)
n.3858_3861del
n.3844_3847del
 gnomAD v4
15g.48756353T>ACA392343190CEP152c.2895A>T (p.Gln965His)
c.2616A>T (p.Gln872His)
c.936A>T (p.Gln312His)
c.930A>T (p.Gln310His)
n.3860A>T
n.3846A>T
15g.48756353T>CCA490311332CEP152c.2895A>G (p.Gln965=)
c.2616A>G (p.Gln872=)
c.936A>G (p.Gln312=)
c.930A>G (p.Gln310=)
n.3860A>G
n.3846A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756353T>GCA392343191CEP152c.2895A>C (p.Gln965His)
c.2616A>C (p.Gln872His)
c.936A>C (p.Gln312His)
c.930A>C (p.Gln310His)
n.3860A>C
n.3846A>C
15g.48756353T=CA2175629127CEP152c.2895A= (p.Gln965=)
c.2616A= (p.Gln872=)
c.936A= (p.Gln312=)
c.930A= (p.Gln310=)
n.3860A=
n.3846A=

Number of alleles fetched