Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99854031A>C | CA371784744 | VPS13B | c.10717A>C (p.Thr3573Pro) n.10787A>C c.*6399A>C (n.*6399A>C) c.10642A>C (p.Thr3548Pro) c.10714A>C (p.Thr3572Pro) c.10639A>C (p.Thr3547Pro) c.10339A>C (p.Thr3447Pro) c.7603A>C (p.Thr2535Pro) c.6496A>C (p.Thr2166Pro) c.10522A>C (p.Thr3508Pro) c.6274A>C (p.Thr2092Pro) c.9502A>C (p.Thr3168Pro) | |
8 | g.99854031A>G | CA371784758 | VPS13B | c.10717A>G (p.Thr3573Ala) n.10787A>G c.*6399A>G (n.*6399A>G) c.10642A>G (p.Thr3548Ala) c.10714A>G (p.Thr3572Ala) c.10639A>G (p.Thr3547Ala) c.10339A>G (p.Thr3447Ala) c.7603A>G (p.Thr2535Ala) c.6496A>G (p.Thr2166Ala) c.10522A>G (p.Thr3508Ala) c.6274A>G (p.Thr2092Ala) c.9502A>G (p.Thr3168Ala) | |
8 | g.99854031A>T | CA371784748 | VPS13B | c.10717A>T (p.Thr3573Ser) n.10787A>T c.*6399A>T (n.*6399A>T) c.10642A>T (p.Thr3548Ser) c.10714A>T (p.Thr3572Ser) c.10639A>T (p.Thr3547Ser) c.10339A>T (p.Thr3447Ser) c.7603A>T (p.Thr2535Ser) c.6496A>T (p.Thr2166Ser) c.10522A>T (p.Thr3508Ser) c.6274A>T (p.Thr2092Ser) c.9502A>T (p.Thr3168Ser) | |
8 | g.99854032C>A | CA371784762 | VPS13B | c.10718C>A (p.Thr3573Lys) n.10788C>A c.*6400C>A (n.*6400C>A) c.10643C>A (p.Thr3548Lys) c.10715C>A (p.Thr3572Lys) c.10640C>A (p.Thr3547Lys) c.10340C>A (p.Thr3447Lys) c.7604C>A (p.Thr2535Lys) c.6497C>A (p.Thr2166Lys) c.10523C>A (p.Thr3508Lys) c.6275C>A (p.Thr2092Lys) c.9503C>A (p.Thr3168Lys) | |
8 | g.99854032C>G | CA371784767 | VPS13B | c.10718C>G (p.Thr3573Arg) n.10788C>G c.*6400C>G (n.*6400C>G) c.10643C>G (p.Thr3548Arg) c.10715C>G (p.Thr3572Arg) c.10640C>G (p.Thr3547Arg) c.10340C>G (p.Thr3447Arg) c.7604C>G (p.Thr2535Arg) c.6497C>G (p.Thr2166Arg) c.10523C>G (p.Thr3508Arg) c.6275C>G (p.Thr2092Arg) c.9503C>G (p.Thr3168Arg) | |
8 | g.99854032C>T | CA4824989 | VPS13B | c.10718C>T (p.Thr3573Ile) n.10788C>T c.*6400C>T (n.*6400C>T) c.10643C>T (p.Thr3548Ile) c.10715C>T (p.Thr3572Ile) c.10640C>T (p.Thr3547Ile) c.10340C>T (p.Thr3447Ile) c.7604C>T (p.Thr2535Ile) c.6497C>T (p.Thr2166Ile) c.10523C>T (p.Thr3508Ile) c.6275C>T (p.Thr2092Ile) c.9503C>T (p.Thr3168Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854033A>C | CA462458277 | VPS13B | c.10719A>C (p.Thr3573=) n.10789A>C c.*6401A>C (n.*6401A>C) c.10644A>C (p.Thr3548=) c.10716A>C (p.Thr3572=) c.10641A>C (p.Thr3547=) c.10341A>C (p.Thr3447=) c.7605A>C (p.Thr2535=) c.6498A>C (p.Thr2166=) c.10524A>C (p.Thr3508=) c.6276A>C (p.Thr2092=) c.9504A>C (p.Thr3168=) | |
8 | g.99854033A>G | CA462458278 | VPS13B | c.10719A>G (p.Thr3573=) n.10789A>G c.*6401A>G (n.*6401A>G) c.10644A>G (p.Thr3548=) c.10716A>G (p.Thr3572=) c.10641A>G (p.Thr3547=) c.10341A>G (p.Thr3447=) c.7605A>G (p.Thr2535=) c.6498A>G (p.Thr2166=) c.10524A>G (p.Thr3508=) c.6276A>G (p.Thr2092=) c.9504A>G (p.Thr3168=) | ClinVar |
8 | g.99854033A>T | CA462458279 | VPS13B | c.10719A>T (p.Thr3573=) n.10789A>T c.*6401A>T (n.*6401A>T) c.10644A>T (p.Thr3548=) c.10716A>T (p.Thr3572=) c.10641A>T (p.Thr3547=) c.10341A>T (p.Thr3447=) c.7605A>T (p.Thr2535=) c.6498A>T (p.Thr2166=) c.10524A>T (p.Thr3508=) c.6276A>T (p.Thr2092=) c.9504A>T (p.Thr3168=) | ClinVar dbSNP |
8 | g.99854034C>A | CA4824990 | VPS13B | c.10720C>A (p.Gln3574Lys) n.10790C>A c.*6402C>A (n.*6402C>A) c.10645C>A (p.Gln3549Lys) c.10717C>A (p.Gln3573Lys) c.10642C>A (p.Gln3548Lys) c.10342C>A (p.Gln3448Lys) c.7606C>A (p.Gln2536Lys) c.6499C>A (p.Gln2167Lys) c.10525C>A (p.Gln3509Lys) c.6277C>A (p.Gln2093Lys) c.9505C>A (p.Gln3169Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854034C>G | CA371784787 | VPS13B | c.10720C>G (p.Gln3574Glu) n.10790C>G c.*6402C>G (n.*6402C>G) c.10645C>G (p.Gln3549Glu) c.10717C>G (p.Gln3573Glu) c.10642C>G (p.Gln3548Glu) c.10342C>G (p.Gln3448Glu) c.7606C>G (p.Gln2536Glu) c.6499C>G (p.Gln2167Glu) c.10525C>G (p.Gln3509Glu) c.6277C>G (p.Gln2093Glu) c.9505C>G (p.Gln3169Glu) | gnomAD v4 |
8 | g.99854034C>T | CA371784791 | VPS13B | c.10720C>T (p.Gln3574Ter) n.10790C>T c.*6402C>T (n.*6402C>T) c.10645C>T (p.Gln3549Ter) c.10717C>T (p.Gln3573Ter) c.10642C>T (p.Gln3548Ter) c.10342C>T (p.Gln3448Ter) c.7606C>T (p.Gln2536Ter) c.6499C>T (p.Gln2167Ter) c.10525C>T (p.Gln3509Ter) c.6277C>T (p.Gln2093Ter) c.9505C>T (p.Gln3169Ter) | |
8 | g.99854035A>C | CA371784792 | VPS13B | c.10721A>C (p.Gln3574Pro) n.10791A>C c.*6403A>C (n.*6403A>C) c.10646A>C (p.Gln3549Pro) c.10718A>C (p.Gln3573Pro) c.10643A>C (p.Gln3548Pro) c.10343A>C (p.Gln3448Pro) c.7607A>C (p.Gln2536Pro) c.6500A>C (p.Gln2167Pro) c.10526A>C (p.Gln3509Pro) c.6278A>C (p.Gln2093Pro) c.9506A>C (p.Gln3169Pro) | |
8 | g.99854035A>G | CA371784794 | VPS13B | c.10721A>G (p.Gln3574Arg) n.10791A>G c.*6403A>G (n.*6403A>G) c.10646A>G (p.Gln3549Arg) c.10718A>G (p.Gln3573Arg) c.10643A>G (p.Gln3548Arg) c.10343A>G (p.Gln3448Arg) c.7607A>G (p.Gln2536Arg) c.6500A>G (p.Gln2167Arg) c.10526A>G (p.Gln3509Arg) c.6278A>G (p.Gln2093Arg) c.9506A>G (p.Gln3169Arg) | |
8 | g.99854035A>T | CA371784798 | VPS13B | c.10721A>T (p.Gln3574Leu) n.10791A>T c.*6403A>T (n.*6403A>T) c.10646A>T (p.Gln3549Leu) c.10718A>T (p.Gln3573Leu) c.10643A>T (p.Gln3548Leu) c.10343A>T (p.Gln3448Leu) c.7607A>T (p.Gln2536Leu) c.6500A>T (p.Gln2167Leu) c.10526A>T (p.Gln3509Leu) c.6278A>T (p.Gln2093Leu) c.9506A>T (p.Gln3169Leu) | |
8 | g.99854036G>A | CA462458280 | VPS13B | c.10722G>A (p.Gln3574=) n.10792G>A c.*6404G>A (n.*6404G>A) c.10647G>A (p.Gln3549=) c.10719G>A (p.Gln3573=) c.10644G>A (p.Gln3548=) c.10344G>A (p.Gln3448=) c.7608G>A (p.Gln2536=) c.6501G>A (p.Gln2167=) c.10527G>A (p.Gln3509=) c.6279G>A (p.Gln2093=) c.9507G>A (p.Gln3169=) | gnomAD v4 |
8 | g.99854036G>C | CA371784806 | VPS13B | c.10722G>C (p.Gln3574His) n.10792G>C c.*6404G>C (n.*6404G>C) c.10647G>C (p.Gln3549His) c.10719G>C (p.Gln3573His) c.10644G>C (p.Gln3548His) c.10344G>C (p.Gln3448His) c.7608G>C (p.Gln2536His) c.6501G>C (p.Gln2167His) c.10527G>C (p.Gln3509His) c.6279G>C (p.Gln2093His) c.9507G>C (p.Gln3169His) | |
8 | g.99854036G>T | CA371784808 | VPS13B | c.10722G>T (p.Gln3574His) n.10792G>T c.*6404G>T (n.*6404G>T) c.10647G>T (p.Gln3549His) c.10719G>T (p.Gln3573His) c.10644G>T (p.Gln3548His) c.10344G>T (p.Gln3448His) c.7608G>T (p.Gln2536His) c.6501G>T (p.Gln2167His) c.10527G>T (p.Gln3509His) c.6279G>T (p.Gln2093His) c.9507G>T (p.Gln3169His) | gnomAD v4 |
8 | g.99854037C>A | CA371784837 | VPS13B | c.10723C>A (p.His3575Asn) n.10793C>A c.*6405C>A (n.*6405C>A) c.10648C>A (p.His3550Asn) c.10720C>A (p.His3574Asn) c.10645C>A (p.His3549Asn) c.10345C>A (p.His3449Asn) c.7609C>A (p.His2537Asn) c.6502C>A (p.His2168Asn) c.10528C>A (p.His3510Asn) c.6280C>A (p.His2094Asn) c.9508C>A (p.His3170Asn) | |
8 | g.99854037C>G | CA371784852 | VPS13B | c.10723C>G (p.His3575Asp) n.10793C>G c.*6405C>G (n.*6405C>G) c.10648C>G (p.His3550Asp) c.10720C>G (p.His3574Asp) c.10645C>G (p.His3549Asp) c.10345C>G (p.His3449Asp) c.7609C>G (p.His2537Asp) c.6502C>G (p.His2168Asp) c.10528C>G (p.His3510Asp) c.6280C>G (p.His2094Asp) c.9508C>G (p.His3170Asp) | |
8 | g.99854037C>T | CA371784819 | VPS13B | c.10723C>T (p.His3575Tyr) n.10793C>T c.*6405C>T (n.*6405C>T) c.10648C>T (p.His3550Tyr) c.10720C>T (p.His3574Tyr) c.10645C>T (p.His3549Tyr) c.10345C>T (p.His3449Tyr) c.7609C>T (p.His2537Tyr) c.6502C>T (p.His2168Tyr) c.10528C>T (p.His3510Tyr) c.6280C>T (p.His2094Tyr) c.9508C>T (p.His3170Tyr) | |
8 | g.99854038A>C | CA371784878 | VPS13B | c.10724A>C (p.His3575Pro) n.10794A>C c.*6406A>C (n.*6406A>C) c.10649A>C (p.His3550Pro) c.10721A>C (p.His3574Pro) c.10646A>C (p.His3549Pro) c.10346A>C (p.His3449Pro) c.7610A>C (p.His2537Pro) c.6503A>C (p.His2168Pro) c.10529A>C (p.His3510Pro) c.6281A>C (p.His2094Pro) c.9509A>C (p.His3170Pro) | dbSNP |
8 | g.99854038A>G | CA371784886 | VPS13B | c.10724A>G (p.His3575Arg) n.10794A>G c.*6406A>G (n.*6406A>G) c.10649A>G (p.His3550Arg) c.10721A>G (p.His3574Arg) c.10646A>G (p.His3549Arg) c.10346A>G (p.His3449Arg) c.7610A>G (p.His2537Arg) c.6503A>G (p.His2168Arg) c.10529A>G (p.His3510Arg) c.6281A>G (p.His2094Arg) c.9509A>G (p.His3170Arg) | |
8 | g.99854038A>T | CA371784895 | VPS13B | c.10724A>T (p.His3575Leu) n.10794A>T c.*6406A>T (n.*6406A>T) c.10649A>T (p.His3550Leu) c.10721A>T (p.His3574Leu) c.10646A>T (p.His3549Leu) c.10346A>T (p.His3449Leu) c.7610A>T (p.His2537Leu) c.6503A>T (p.His2168Leu) c.10529A>T (p.His3510Leu) c.6281A>T (p.His2094Leu) c.9509A>T (p.His3170Leu) | |
8 | g.99854039C>A | CA371784906 | VPS13B | c.10725C>A (p.His3575Gln) n.10795C>A c.*6407C>A (n.*6407C>A) c.10650C>A (p.His3550Gln) c.10722C>A (p.His3574Gln) c.10647C>A (p.His3549Gln) c.10347C>A (p.His3449Gln) c.7611C>A (p.His2537Gln) c.6504C>A (p.His2168Gln) c.10530C>A (p.His3510Gln) c.6282C>A (p.His2094Gln) c.9510C>A (p.His3170Gln) | |
8 | g.99854039C>G | CA371784911 | VPS13B | c.10725C>G (p.His3575Gln) n.10795C>G c.*6407C>G (n.*6407C>G) c.10650C>G (p.His3550Gln) c.10722C>G (p.His3574Gln) c.10647C>G (p.His3549Gln) c.10347C>G (p.His3449Gln) c.7611C>G (p.His2537Gln) c.6504C>G (p.His2168Gln) c.10530C>G (p.His3510Gln) c.6282C>G (p.His2094Gln) c.9510C>G (p.His3170Gln) | ClinVar dbSNP |
8 | g.99854039C>T | CA4824991 | VPS13B | c.10725C>T (p.His3575=) n.10795C>T c.*6407C>T (n.*6407C>T) c.10650C>T (p.His3550=) c.10722C>T (p.His3574=) c.10647C>T (p.His3549=) c.10347C>T (p.His3449=) c.7611C>T (p.His2537=) c.6504C>T (p.His2168=) c.10530C>T (p.His3510=) c.6282C>T (p.His2094=) c.9510C>T (p.His3170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854040G>A | CA4824992 | VPS13B | c.10726G>A (p.Ala3576Thr) n.10796G>A c.*6408G>A (n.*6408G>A) c.10651G>A (p.Ala3551Thr) c.10723G>A (p.Ala3575Thr) c.10648G>A (p.Ala3550Thr) c.10348G>A (p.Ala3450Thr) c.7612G>A (p.Ala2538Thr) c.6505G>A (p.Ala2169Thr) c.10531G>A (p.Ala3511Thr) c.6283G>A (p.Ala2095Thr) c.9511G>A (p.Ala3171Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.99854040G>C | CA371784932 | VPS13B | c.10726G>C (p.Ala3576Pro) n.10796G>C c.*6408G>C (n.*6408G>C) c.10651G>C (p.Ala3551Pro) c.10723G>C (p.Ala3575Pro) c.10648G>C (p.Ala3550Pro) c.10348G>C (p.Ala3450Pro) c.7612G>C (p.Ala2538Pro) c.6505G>C (p.Ala2169Pro) c.10531G>C (p.Ala3511Pro) c.6283G>C (p.Ala2095Pro) c.9511G>C (p.Ala3171Pro) | |
8 | g.99854040G>T | CA371784935 | VPS13B | c.10726G>T (p.Ala3576Ser) n.10796G>T c.*6408G>T (n.*6408G>T) c.10651G>T (p.Ala3551Ser) c.10723G>T (p.Ala3575Ser) c.10648G>T (p.Ala3550Ser) c.10348G>T (p.Ala3450Ser) c.7612G>T (p.Ala2538Ser) c.6505G>T (p.Ala2169Ser) c.10531G>T (p.Ala3511Ser) c.6283G>T (p.Ala2095Ser) c.9511G>T (p.Ala3171Ser) | |
8 | g.99854041C>A | CA371784939 | VPS13B | c.10727C>A (p.Ala3576Asp) n.10797C>A c.*6409C>A (n.*6409C>A) c.10652C>A (p.Ala3551Asp) c.10724C>A (p.Ala3575Asp) c.10649C>A (p.Ala3550Asp) c.10349C>A (p.Ala3450Asp) c.7613C>A (p.Ala2538Asp) c.6506C>A (p.Ala2169Asp) c.10532C>A (p.Ala3511Asp) c.6284C>A (p.Ala2095Asp) c.9512C>A (p.Ala3171Asp) | |
8 | g.99854041C>G | CA371784943 | VPS13B | c.10727C>G (p.Ala3576Gly) n.10797C>G c.*6409C>G (n.*6409C>G) c.10652C>G (p.Ala3551Gly) c.10724C>G (p.Ala3575Gly) c.10649C>G (p.Ala3550Gly) c.10349C>G (p.Ala3450Gly) c.7613C>G (p.Ala2538Gly) c.6506C>G (p.Ala2169Gly) c.10532C>G (p.Ala3511Gly) c.6284C>G (p.Ala2095Gly) c.9512C>G (p.Ala3171Gly) | |
8 | g.99854041C>T | CA371784948 | VPS13B | c.10727C>T (p.Ala3576Val) n.10797C>T c.*6409C>T (n.*6409C>T) c.10652C>T (p.Ala3551Val) c.10724C>T (p.Ala3575Val) c.10649C>T (p.Ala3550Val) c.10349C>T (p.Ala3450Val) c.7613C>T (p.Ala2538Val) c.6506C>T (p.Ala2169Val) c.10532C>T (p.Ala3511Val) c.6284C>T (p.Ala2095Val) c.9512C>T (p.Ala3171Val) | |
8 | g.99854043_99854059del | CA583848139 | VPS13B | c.10729_10745del (p.Arg3577CysfsTer?) n.10799_10815del c.*6411_*6427del (n.*6411_*6427del) c.10654_10670del (p.Arg3552CysfsTer?) c.10726_10742del (p.Arg3576CysfsTer?) c.10651_10667del (p.Arg3551CysfsTer?) c.10351_10367del (p.Arg3451CysfsTer?) c.7615_7631del (p.Arg2539CysfsTer?) c.6508_6524del (p.Arg2170CysfsTer?) c.10534_10550del (p.Arg3512CysfsTer?) c.6286_6302del (p.Arg2096CysfsTer?) c.9514_9530del (p.Arg3172CysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99854042C>A | CA462458281 | VPS13B | c.10728C>A (p.Ala3576=) n.10798C>A c.*6410C>A (n.*6410C>A) c.10653C>A (p.Ala3551=) c.10725C>A (p.Ala3575=) c.10650C>A (p.Ala3550=) c.10350C>A (p.Ala3450=) c.7614C>A (p.Ala2538=) c.6507C>A (p.Ala2169=) c.10533C>A (p.Ala3511=) c.6285C>A (p.Ala2095=) c.9513C>A (p.Ala3171=) | |
8 | g.99854042C>G | CA462458282 | VPS13B | c.10728C>G (p.Ala3576=) n.10798C>G c.*6410C>G (n.*6410C>G) c.10653C>G (p.Ala3551=) c.10725C>G (p.Ala3575=) c.10650C>G (p.Ala3550=) c.10350C>G (p.Ala3450=) c.7614C>G (p.Ala2538=) c.6507C>G (p.Ala2169=) c.10533C>G (p.Ala3511=) c.6285C>G (p.Ala2095=) c.9513C>G (p.Ala3171=) | ClinVar dbSNP |
8 | g.99854042C>T | CA462458283 | VPS13B | c.10728C>T (p.Ala3576=) n.10798C>T c.*6410C>T (n.*6410C>T) c.10653C>T (p.Ala3551=) c.10725C>T (p.Ala3575=) c.10650C>T (p.Ala3550=) c.10350C>T (p.Ala3450=) c.7614C>T (p.Ala2538=) c.6507C>T (p.Ala2169=) c.10533C>T (p.Ala3511=) c.6285C>T (p.Ala2095=) c.9513C>T (p.Ala3171=) | |
8 | g.99854043A>C | CA462458284 | VPS13B | c.10729A>C (p.Arg3577=) n.10799A>C c.*6411A>C (n.*6411A>C) c.10654A>C (p.Arg3552=) c.10726A>C (p.Arg3576=) c.10651A>C (p.Arg3551=) c.10351A>C (p.Arg3451=) c.7615A>C (p.Arg2539=) c.6508A>C (p.Arg2170=) c.10534A>C (p.Arg3512=) c.6286A>C (p.Arg2096=) c.9514A>C (p.Arg3172=) | |
8 | g.99854043A>G | CA371784962 | VPS13B | c.10729A>G (p.Arg3577Gly) n.10799A>G c.*6411A>G (n.*6411A>G) c.10654A>G (p.Arg3552Gly) c.10726A>G (p.Arg3576Gly) c.10651A>G (p.Arg3551Gly) c.10351A>G (p.Arg3451Gly) c.7615A>G (p.Arg2539Gly) c.6508A>G (p.Arg2170Gly) c.10534A>G (p.Arg3512Gly) c.6286A>G (p.Arg2096Gly) c.9514A>G (p.Arg3172Gly) | |
8 | g.99854043A>T | CA371784965 | VPS13B | c.10729A>T (p.Arg3577Trp) n.10799A>T c.*6411A>T (n.*6411A>T) c.10654A>T (p.Arg3552Trp) c.10726A>T (p.Arg3576Trp) c.10651A>T (p.Arg3551Trp) c.10351A>T (p.Arg3451Trp) c.7615A>T (p.Arg2539Trp) c.6508A>T (p.Arg2170Trp) c.10534A>T (p.Arg3512Trp) c.6286A>T (p.Arg2096Trp) c.9514A>T (p.Arg3172Trp) | |
8 | g.99854044G>A | CA371784976 | VPS13B | c.10730G>A (p.Arg3577Lys) n.10800G>A c.*6412G>A (n.*6412G>A) c.10655G>A (p.Arg3552Lys) c.10727G>A (p.Arg3576Lys) c.10652G>A (p.Arg3551Lys) c.10352G>A (p.Arg3451Lys) c.7616G>A (p.Arg2539Lys) c.6509G>A (p.Arg2170Lys) c.10535G>A (p.Arg3512Lys) c.6287G>A (p.Arg2096Lys) c.9515G>A (p.Arg3172Lys) | |
8 | g.99854044G>C | CA371784983 | VPS13B | c.10730G>C (p.Arg3577Thr) n.10800G>C c.*6412G>C (n.*6412G>C) c.10655G>C (p.Arg3552Thr) c.10727G>C (p.Arg3576Thr) c.10652G>C (p.Arg3551Thr) c.10352G>C (p.Arg3451Thr) c.7616G>C (p.Arg2539Thr) c.6509G>C (p.Arg2170Thr) c.10535G>C (p.Arg3512Thr) c.6287G>C (p.Arg2096Thr) c.9515G>C (p.Arg3172Thr) | |
8 | g.99854044G>T | CA371784979 | VPS13B | c.10730G>T (p.Arg3577Met) n.10800G>T c.*6412G>T (n.*6412G>T) c.10655G>T (p.Arg3552Met) c.10727G>T (p.Arg3576Met) c.10652G>T (p.Arg3551Met) c.10352G>T (p.Arg3451Met) c.7616G>T (p.Arg2539Met) c.6509G>T (p.Arg2170Met) c.10535G>T (p.Arg3512Met) c.6287G>T (p.Arg2096Met) c.9515G>T (p.Arg3172Met) | |
8 | g.99854045G>A | CA462458285 | VPS13B | c.10731G>A (p.Arg3577=) n.10801G>A c.*6413G>A (n.*6413G>A) c.10656G>A (p.Arg3552=) c.10728G>A (p.Arg3576=) c.10653G>A (p.Arg3551=) c.10353G>A (p.Arg3451=) c.7617G>A (p.Arg2539=) c.6510G>A (p.Arg2170=) c.10536G>A (p.Arg3512=) c.6288G>A (p.Arg2096=) c.9516G>A (p.Arg3172=) | |
8 | g.99854045G>C | CA371784988 | VPS13B | c.10731G>C (p.Arg3577Ser) n.10801G>C c.*6413G>C (n.*6413G>C) c.10656G>C (p.Arg3552Ser) c.10728G>C (p.Arg3576Ser) c.10653G>C (p.Arg3551Ser) c.10353G>C (p.Arg3451Ser) c.7617G>C (p.Arg2539Ser) c.6510G>C (p.Arg2170Ser) c.10536G>C (p.Arg3512Ser) c.6288G>C (p.Arg2096Ser) c.9516G>C (p.Arg3172Ser) | |
8 | g.99854045G>T | CA371785000 | VPS13B | c.10731G>T (p.Arg3577Ser) n.10801G>T c.*6413G>T (n.*6413G>T) c.10656G>T (p.Arg3552Ser) c.10728G>T (p.Arg3576Ser) c.10653G>T (p.Arg3551Ser) c.10353G>T (p.Arg3451Ser) c.7617G>T (p.Arg2539Ser) c.6510G>T (p.Arg2170Ser) c.10536G>T (p.Arg3512Ser) c.6288G>T (p.Arg2096Ser) c.9516G>T (p.Arg3172Ser) | |
8 | g.99854046G>A | CA4824993 | VPS13B | c.10732G>A (p.Ala3578Thr) n.10802G>A c.*6414G>A (n.*6414G>A) c.10657G>A (p.Ala3553Thr) c.10729G>A (p.Ala3577Thr) c.10654G>A (p.Ala3552Thr) c.10354G>A (p.Ala3452Thr) c.7618G>A (p.Ala2540Thr) c.6511G>A (p.Ala2171Thr) c.10537G>A (p.Ala3513Thr) c.6289G>A (p.Ala2097Thr) c.9517G>A (p.Ala3173Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854046G>C | CA371785015 | VPS13B | c.10732G>C (p.Ala3578Pro) n.10802G>C c.*6414G>C (n.*6414G>C) c.10657G>C (p.Ala3553Pro) c.10729G>C (p.Ala3577Pro) c.10654G>C (p.Ala3552Pro) c.10354G>C (p.Ala3452Pro) c.7618G>C (p.Ala2540Pro) c.6511G>C (p.Ala2171Pro) c.10537G>C (p.Ala3513Pro) c.6289G>C (p.Ala2097Pro) c.9517G>C (p.Ala3173Pro) | |
8 | g.99854046G>T | CA371785019 | VPS13B | c.10732G>T (p.Ala3578Ser) n.10802G>T c.*6414G>T (n.*6414G>T) c.10657G>T (p.Ala3553Ser) c.10729G>T (p.Ala3577Ser) c.10654G>T (p.Ala3552Ser) c.10354G>T (p.Ala3452Ser) c.7618G>T (p.Ala2540Ser) c.6511G>T (p.Ala2171Ser) c.10537G>T (p.Ala3513Ser) c.6289G>T (p.Ala2097Ser) c.9517G>T (p.Ala3173Ser) | |
8 | g.99854047C>A | CA371785023 | VPS13B | c.10733C>A (p.Ala3578Asp) n.10803C>A c.*6415C>A (n.*6415C>A) c.10658C>A (p.Ala3553Asp) c.10730C>A (p.Ala3577Asp) c.10655C>A (p.Ala3552Asp) c.10355C>A (p.Ala3452Asp) c.7619C>A (p.Ala2540Asp) c.6512C>A (p.Ala2171Asp) c.10538C>A (p.Ala3513Asp) c.6290C>A (p.Ala2097Asp) c.9518C>A (p.Ala3173Asp) | |
8 | g.99854047C>G | CA371785025 | VPS13B | c.10733C>G (p.Ala3578Gly) n.10803C>G c.*6415C>G (n.*6415C>G) c.10658C>G (p.Ala3553Gly) c.10730C>G (p.Ala3577Gly) c.10655C>G (p.Ala3552Gly) c.10355C>G (p.Ala3452Gly) c.7619C>G (p.Ala2540Gly) c.6512C>G (p.Ala2171Gly) c.10538C>G (p.Ala3513Gly) c.6290C>G (p.Ala2097Gly) c.9518C>G (p.Ala3173Gly) | gnomAD v4 |
8 | g.99854047C>T | CA371785037 | VPS13B | c.10733C>T (p.Ala3578Val) n.10803C>T c.*6415C>T (n.*6415C>T) c.10658C>T (p.Ala3553Val) c.10730C>T (p.Ala3577Val) c.10655C>T (p.Ala3552Val) c.10355C>T (p.Ala3452Val) c.7619C>T (p.Ala2540Val) c.6512C>T (p.Ala2171Val) c.10538C>T (p.Ala3513Val) c.6290C>T (p.Ala2097Val) c.9518C>T (p.Ala3173Val) | |
8 | g.99854048C>A | CA462458286 | VPS13B | c.10734C>A (p.Ala3578=) n.10804C>A c.*6416C>A (n.*6416C>A) c.10659C>A (p.Ala3553=) c.10731C>A (p.Ala3577=) c.10656C>A (p.Ala3552=) c.10356C>A (p.Ala3452=) c.7620C>A (p.Ala2540=) c.6513C>A (p.Ala2171=) c.10539C>A (p.Ala3513=) c.6291C>A (p.Ala2097=) c.9519C>A (p.Ala3173=) | |
8 | g.99854048C>G | CA462458287 | VPS13B | c.10734C>G (p.Ala3578=) n.10804C>G c.*6416C>G (n.*6416C>G) c.10659C>G (p.Ala3553=) c.10731C>G (p.Ala3577=) c.10656C>G (p.Ala3552=) c.10356C>G (p.Ala3452=) c.7620C>G (p.Ala2540=) c.6513C>G (p.Ala2171=) c.10539C>G (p.Ala3513=) c.6291C>G (p.Ala2097=) c.9519C>G (p.Ala3173=) | gnomAD v4 |
8 | g.99854048C>T | CA462458288 | VPS13B | c.10734C>T (p.Ala3578=) n.10804C>T c.*6416C>T (n.*6416C>T) c.10659C>T (p.Ala3553=) c.10731C>T (p.Ala3577=) c.10656C>T (p.Ala3552=) c.10356C>T (p.Ala3452=) c.7620C>T (p.Ala2540=) c.6513C>T (p.Ala2171=) c.10539C>T (p.Ala3513=) c.6291C>T (p.Ala2097=) c.9519C>T (p.Ala3173=) | ClinVar dbSNP gnomAD v4 |
8 | g.99854049T>A | CA371785041 | VPS13B | c.10735T>A (p.Leu3579Met) n.10805T>A c.*6417T>A (n.*6417T>A) c.10660T>A (p.Leu3554Met) c.10732T>A (p.Leu3578Met) c.10657T>A (p.Leu3553Met) c.10357T>A (p.Leu3453Met) c.7621T>A (p.Leu2541Met) c.6514T>A (p.Leu2172Met) c.10540T>A (p.Leu3514Met) c.6292T>A (p.Leu2098Met) c.9520T>A (p.Leu3174Met) | |
8 | g.99854049T>C | CA462458289 | VPS13B | c.10735T>C (p.Leu3579=) n.10805T>C c.*6417T>C (n.*6417T>C) c.10660T>C (p.Leu3554=) c.10732T>C (p.Leu3578=) c.10657T>C (p.Leu3553=) c.10357T>C (p.Leu3453=) c.7621T>C (p.Leu2541=) c.6514T>C (p.Leu2172=) c.10540T>C (p.Leu3514=) c.6292T>C (p.Leu2098=) c.9520T>C (p.Leu3174=) | ClinVar |
8 | g.99854049T>G | CA371785045 | VPS13B | c.10735T>G (p.Leu3579Val) n.10805T>G c.*6417T>G (n.*6417T>G) c.10660T>G (p.Leu3554Val) c.10732T>G (p.Leu3578Val) c.10657T>G (p.Leu3553Val) c.10357T>G (p.Leu3453Val) c.7621T>G (p.Leu2541Val) c.6514T>G (p.Leu2172Val) c.10540T>G (p.Leu3514Val) c.6292T>G (p.Leu2098Val) c.9520T>G (p.Leu3174Val) | |
8 | g.99854050T>A | CA371785049 | VPS13B | c.10736T>A (p.Leu3579Ter) n.10806T>A c.*6418T>A (n.*6418T>A) c.10661T>A (p.Leu3554Ter) c.10733T>A (p.Leu3578Ter) c.10658T>A (p.Leu3553Ter) c.10358T>A (p.Leu3453Ter) c.7622T>A (p.Leu2541Ter) c.6515T>A (p.Leu2172Ter) c.10541T>A (p.Leu3514Ter) c.6293T>A (p.Leu2098Ter) c.9521T>A (p.Leu3174Ter) | ClinVar |
8 | g.99854050T>C | CA371785051 | VPS13B | c.10736T>C (p.Leu3579Ser) n.10806T>C c.*6418T>C (n.*6418T>C) c.10661T>C (p.Leu3554Ser) c.10733T>C (p.Leu3578Ser) c.10658T>C (p.Leu3553Ser) c.10358T>C (p.Leu3453Ser) c.7622T>C (p.Leu2541Ser) c.6515T>C (p.Leu2172Ser) c.10541T>C (p.Leu3514Ser) c.6293T>C (p.Leu2098Ser) c.9521T>C (p.Leu3174Ser) | |
8 | g.99854050T>G | CA371785052 | VPS13B | c.10736T>G (p.Leu3579Trp) n.10806T>G c.*6418T>G (n.*6418T>G) c.10661T>G (p.Leu3554Trp) c.10733T>G (p.Leu3578Trp) c.10658T>G (p.Leu3553Trp) c.10358T>G (p.Leu3453Trp) c.7622T>G (p.Leu2541Trp) c.6515T>G (p.Leu2172Trp) c.10541T>G (p.Leu3514Trp) c.6293T>G (p.Leu2098Trp) c.9521T>G (p.Leu3174Trp) | |
8 | g.99854051G>A | CA462458290 | VPS13B | c.10737G>A (p.Leu3579=) n.10807G>A c.*6419G>A (n.*6419G>A) c.10662G>A (p.Leu3554=) c.10734G>A (p.Leu3578=) c.10659G>A (p.Leu3553=) c.10359G>A (p.Leu3453=) c.7623G>A (p.Leu2541=) c.6516G>A (p.Leu2172=) c.10542G>A (p.Leu3514=) c.6294G>A (p.Leu2098=) c.9522G>A (p.Leu3174=) | |
8 | g.99854051G>C | CA371785053 | VPS13B | c.10737G>C (p.Leu3579Phe) n.10807G>C c.*6419G>C (n.*6419G>C) c.10662G>C (p.Leu3554Phe) c.10734G>C (p.Leu3578Phe) c.10659G>C (p.Leu3553Phe) c.10359G>C (p.Leu3453Phe) c.7623G>C (p.Leu2541Phe) c.6516G>C (p.Leu2172Phe) c.10542G>C (p.Leu3514Phe) c.6294G>C (p.Leu2098Phe) c.9522G>C (p.Leu3174Phe) | dbSNP gnomAD v2 |
8 | g.99854051G>T | CA371785054 | VPS13B | c.10737G>T (p.Leu3579Phe) n.10807G>T c.*6419G>T (n.*6419G>T) c.10662G>T (p.Leu3554Phe) c.10734G>T (p.Leu3578Phe) c.10659G>T (p.Leu3553Phe) c.10359G>T (p.Leu3453Phe) c.7623G>T (p.Leu2541Phe) c.6516G>T (p.Leu2172Phe) c.10542G>T (p.Leu3514Phe) c.6294G>T (p.Leu2098Phe) c.9522G>T (p.Leu3174Phe) | |
8 | g.99854052G>A | CA207579 | VPS13B | c.10738G>A (p.Val3580Met) n.10808G>A c.*6420G>A (n.*6420G>A) c.10663G>A (p.Val3555Met) c.10735G>A (p.Val3579Met) c.10660G>A (p.Val3554Met) c.10360G>A (p.Val3454Met) c.7624G>A (p.Val2542Met) c.6517G>A (p.Val2173Met) c.10543G>A (p.Val3515Met) c.6295G>A (p.Val2099Met) c.9523G>A (p.Val3175Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854052G>C | CA371785065 | VPS13B | c.10738G>C (p.Val3580Leu) n.10808G>C c.*6420G>C (n.*6420G>C) c.10663G>C (p.Val3555Leu) c.10735G>C (p.Val3579Leu) c.10660G>C (p.Val3554Leu) c.10360G>C (p.Val3454Leu) c.7624G>C (p.Val2542Leu) c.6517G>C (p.Val2173Leu) c.10543G>C (p.Val3515Leu) c.6295G>C (p.Val2099Leu) c.9523G>C (p.Val3175Leu) | |
8 | g.99854052G>T | CA371785058 | VPS13B | c.10738G>T (p.Val3580Leu) n.10808G>T c.*6420G>T (n.*6420G>T) c.10663G>T (p.Val3555Leu) c.10735G>T (p.Val3579Leu) c.10660G>T (p.Val3554Leu) c.10360G>T (p.Val3454Leu) c.7624G>T (p.Val2542Leu) c.6517G>T (p.Val2173Leu) c.10543G>T (p.Val3515Leu) c.6295G>T (p.Val2099Leu) c.9523G>T (p.Val3175Leu) | |
8 | g.99854053T>A | CA371785067 | VPS13B | c.10739T>A (p.Val3580Glu) n.10809T>A c.*6421T>A (n.*6421T>A) c.10664T>A (p.Val3555Glu) c.10736T>A (p.Val3579Glu) c.10661T>A (p.Val3554Glu) c.10361T>A (p.Val3454Glu) c.7625T>A (p.Val2542Glu) c.6518T>A (p.Val2173Glu) c.10544T>A (p.Val3515Glu) c.6296T>A (p.Val2099Glu) c.9524T>A (p.Val3175Glu) | |
8 | g.99854053T>C | CA371785070 | VPS13B | c.10739T>C (p.Val3580Ala) n.10809T>C c.*6421T>C (n.*6421T>C) c.10664T>C (p.Val3555Ala) c.10736T>C (p.Val3579Ala) c.10661T>C (p.Val3554Ala) c.10361T>C (p.Val3454Ala) c.7625T>C (p.Val2542Ala) c.6518T>C (p.Val2173Ala) c.10544T>C (p.Val3515Ala) c.6296T>C (p.Val2099Ala) c.9524T>C (p.Val3175Ala) | ClinVar dbSNP |
8 | g.99854053T>G | CA371785068 | VPS13B | c.10739T>G (p.Val3580Gly) n.10809T>G c.*6421T>G (n.*6421T>G) c.10664T>G (p.Val3555Gly) c.10736T>G (p.Val3579Gly) c.10661T>G (p.Val3554Gly) c.10361T>G (p.Val3454Gly) c.7625T>G (p.Val2542Gly) c.6518T>G (p.Val2173Gly) c.10544T>G (p.Val3515Gly) c.6296T>G (p.Val2099Gly) c.9524T>G (p.Val3175Gly) | |
8 | g.99854054G>A | CA462458291 | VPS13B | c.10740G>A (p.Val3580=) n.10810G>A c.*6422G>A (n.*6422G>A) c.10665G>A (p.Val3555=) c.10737G>A (p.Val3579=) c.10662G>A (p.Val3554=) c.10362G>A (p.Val3454=) c.7626G>A (p.Val2542=) c.6519G>A (p.Val2173=) c.10545G>A (p.Val3515=) c.6297G>A (p.Val2099=) c.9525G>A (p.Val3175=) | gnomAD v4 |
8 | g.99854054G>C | CA462458292 | VPS13B | c.10740G>C (p.Val3580=) n.10810G>C c.*6422G>C (n.*6422G>C) c.10665G>C (p.Val3555=) c.10737G>C (p.Val3579=) c.10662G>C (p.Val3554=) c.10362G>C (p.Val3454=) c.7626G>C (p.Val2542=) c.6519G>C (p.Val2173=) c.10545G>C (p.Val3515=) c.6297G>C (p.Val2099=) c.9525G>C (p.Val3175=) | |
8 | g.99854054G>T | CA462458293 | VPS13B | c.10740G>T (p.Val3580=) n.10810G>T c.*6422G>T (n.*6422G>T) c.10665G>T (p.Val3555=) c.10737G>T (p.Val3579=) c.10662G>T (p.Val3554=) c.10362G>T (p.Val3454=) c.7626G>T (p.Val2542=) c.6519G>T (p.Val2173=) c.10545G>T (p.Val3515=) c.6297G>T (p.Val2099=) c.9525G>T (p.Val3175=) | |
8 | g.99854055A>C | CA371785074 | VPS13B | c.10741A>C (p.Asn3581His) n.10811A>C c.*6423A>C (n.*6423A>C) c.10666A>C (p.Asn3556His) c.10738A>C (p.Asn3580His) c.10663A>C (p.Asn3555His) c.10363A>C (p.Asn3455His) c.7627A>C (p.Asn2543His) c.6520A>C (p.Asn2174His) c.10546A>C (p.Asn3516His) c.6298A>C (p.Asn2100His) c.9526A>C (p.Asn3176His) | |
8 | g.99854055A>G | CA371785076 | VPS13B | c.10741A>G (p.Asn3581Asp) n.10811A>G c.*6423A>G (n.*6423A>G) c.10666A>G (p.Asn3556Asp) c.10738A>G (p.Asn3580Asp) c.10663A>G (p.Asn3555Asp) c.10363A>G (p.Asn3455Asp) c.7627A>G (p.Asn2543Asp) c.6520A>G (p.Asn2174Asp) c.10546A>G (p.Asn3516Asp) c.6298A>G (p.Asn2100Asp) c.9526A>G (p.Asn3176Asp) | |
8 | g.99854055A>T | CA371785077 | VPS13B | c.10741A>T (p.Asn3581Tyr) n.10811A>T c.*6423A>T (n.*6423A>T) c.10666A>T (p.Asn3556Tyr) c.10738A>T (p.Asn3580Tyr) c.10663A>T (p.Asn3555Tyr) c.10363A>T (p.Asn3455Tyr) c.7627A>T (p.Asn2543Tyr) c.6520A>T (p.Asn2174Tyr) c.10546A>T (p.Asn3516Tyr) c.6298A>T (p.Asn2100Tyr) c.9526A>T (p.Asn3176Tyr) | |
8 | g.99854056A>C | CA371785080 | VPS13B | c.10742A>C (p.Asn3581Thr) n.10812A>C c.*6424A>C (n.*6424A>C) c.10667A>C (p.Asn3556Thr) c.10739A>C (p.Asn3580Thr) c.10664A>C (p.Asn3555Thr) c.10364A>C (p.Asn3455Thr) c.7628A>C (p.Asn2543Thr) c.6521A>C (p.Asn2174Thr) c.10547A>C (p.Asn3516Thr) c.6299A>C (p.Asn2100Thr) c.9527A>C (p.Asn3176Thr) | ClinVar |
8 | g.99854056A>G | CA371785086 | VPS13B | c.10742A>G (p.Asn3581Ser) n.10812A>G c.*6424A>G (n.*6424A>G) c.10667A>G (p.Asn3556Ser) c.10739A>G (p.Asn3580Ser) c.10664A>G (p.Asn3555Ser) c.10364A>G (p.Asn3455Ser) c.7628A>G (p.Asn2543Ser) c.6521A>G (p.Asn2174Ser) c.10547A>G (p.Asn3516Ser) c.6299A>G (p.Asn2100Ser) c.9527A>G (p.Asn3176Ser) | |
8 | g.99854056A>T | CA371785090 | VPS13B | c.10742A>T (p.Asn3581Ile) n.10812A>T c.*6424A>T (n.*6424A>T) c.10667A>T (p.Asn3556Ile) c.10739A>T (p.Asn3580Ile) c.10664A>T (p.Asn3555Ile) c.10364A>T (p.Asn3455Ile) c.7628A>T (p.Asn2543Ile) c.6521A>T (p.Asn2174Ile) c.10547A>T (p.Asn3516Ile) c.6299A>T (p.Asn2100Ile) c.9527A>T (p.Asn3176Ile) | |
8 | g.99854057T>A | CA371785094 | VPS13B | c.10743T>A (p.Asn3581Lys) n.10813T>A c.*6425T>A (n.*6425T>A) c.10668T>A (p.Asn3556Lys) c.10740T>A (p.Asn3580Lys) c.10665T>A (p.Asn3555Lys) c.10365T>A (p.Asn3455Lys) c.7629T>A (p.Asn2543Lys) c.6522T>A (p.Asn2174Lys) c.10548T>A (p.Asn3516Lys) c.6300T>A (p.Asn2100Lys) c.9528T>A (p.Asn3176Lys) | |
8 | g.99854057T>C | CA462458294 | VPS13B | c.10743T>C (p.Asn3581=) n.10813T>C c.*6425T>C (n.*6425T>C) c.10668T>C (p.Asn3556=) c.10740T>C (p.Asn3580=) c.10665T>C (p.Asn3555=) c.10365T>C (p.Asn3455=) c.7629T>C (p.Asn2543=) c.6522T>C (p.Asn2174=) c.10548T>C (p.Asn3516=) c.6300T>C (p.Asn2100=) c.9528T>C (p.Asn3176=) | |
8 | g.99854057T>G | CA371785099 | VPS13B | c.10743T>G (p.Asn3581Lys) n.10813T>G c.*6425T>G (n.*6425T>G) c.10668T>G (p.Asn3556Lys) c.10740T>G (p.Asn3580Lys) c.10665T>G (p.Asn3555Lys) c.10365T>G (p.Asn3455Lys) c.7629T>G (p.Asn2543Lys) c.6522T>G (p.Asn2174Lys) c.10548T>G (p.Asn3516Lys) c.6300T>G (p.Asn2100Lys) c.9528T>G (p.Asn3176Lys) | |
8 | g.99854058C>A | CA371785101 | VPS13B | c.10744C>A (p.Pro3582Thr) n.10814C>A c.*6426C>A (n.*6426C>A) c.10669C>A (p.Pro3557Thr) c.10741C>A (p.Pro3581Thr) c.10666C>A (p.Pro3556Thr) c.10366C>A (p.Pro3456Thr) c.7630C>A (p.Pro2544Thr) c.6523C>A (p.Pro2175Thr) c.10549C>A (p.Pro3517Thr) c.6301C>A (p.Pro2101Thr) c.9529C>A (p.Pro3177Thr) | |
8 | g.99854058C>G | CA371785106 | VPS13B | c.10744C>G (p.Pro3582Ala) n.10814C>G c.*6426C>G (n.*6426C>G) c.10669C>G (p.Pro3557Ala) c.10741C>G (p.Pro3581Ala) c.10666C>G (p.Pro3556Ala) c.10366C>G (p.Pro3456Ala) c.7630C>G (p.Pro2544Ala) c.6523C>G (p.Pro2175Ala) c.10549C>G (p.Pro3517Ala) c.6301C>G (p.Pro2101Ala) c.9529C>G (p.Pro3177Ala) | |
8 | g.99854058C>T | CA371785109 | VPS13B | c.10744C>T (p.Pro3582Ser) n.10814C>T c.*6426C>T (n.*6426C>T) c.10669C>T (p.Pro3557Ser) c.10741C>T (p.Pro3581Ser) c.10666C>T (p.Pro3556Ser) c.10366C>T (p.Pro3456Ser) c.7630C>T (p.Pro2544Ser) c.6523C>T (p.Pro2175Ser) c.10549C>T (p.Pro3517Ser) c.6301C>T (p.Pro2101Ser) c.9529C>T (p.Pro3177Ser) | |
8 | g.99854059C>A | CA182314698 | VPS13B | c.10745C>A (p.Pro3582His) n.10815C>A c.*6427C>A (n.*6427C>A) c.10670C>A (p.Pro3557His) c.10742C>A (p.Pro3581His) c.10667C>A (p.Pro3556His) c.10367C>A (p.Pro3456His) c.7631C>A (p.Pro2544His) c.6524C>A (p.Pro2175His) c.10550C>A (p.Pro3517His) c.6302C>A (p.Pro2101His) c.9530C>A (p.Pro3177His) | dbSNP |
8 | g.99854059C>G | CA371785117 | VPS13B | c.10745C>G (p.Pro3582Arg) n.10815C>G c.*6427C>G (n.*6427C>G) c.10670C>G (p.Pro3557Arg) c.10742C>G (p.Pro3581Arg) c.10667C>G (p.Pro3556Arg) c.10367C>G (p.Pro3456Arg) c.7631C>G (p.Pro2544Arg) c.6524C>G (p.Pro2175Arg) c.10550C>G (p.Pro3517Arg) c.6302C>G (p.Pro2101Arg) c.9530C>G (p.Pro3177Arg) | |
8 | g.99854059C>T | CA371785112 | VPS13B | c.10745C>T (p.Pro3582Leu) n.10815C>T c.*6427C>T (n.*6427C>T) c.10670C>T (p.Pro3557Leu) c.10742C>T (p.Pro3581Leu) c.10667C>T (p.Pro3556Leu) c.10367C>T (p.Pro3456Leu) c.7631C>T (p.Pro2544Leu) c.6524C>T (p.Pro2175Leu) c.10550C>T (p.Pro3517Leu) c.6302C>T (p.Pro2101Leu) c.9530C>T (p.Pro3177Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854060T>A | CA462458297 | VPS13B | c.10746T>A (p.Pro3582=) n.10816T>A c.*6428T>A (n.*6428T>A) c.10671T>A (p.Pro3557=) c.10743T>A (p.Pro3581=) c.10668T>A (p.Pro3556=) c.10368T>A (p.Pro3456=) c.7632T>A (p.Pro2544=) c.6525T>A (p.Pro2175=) c.10551T>A (p.Pro3517=) c.6303T>A (p.Pro2101=) c.9531T>A (p.Pro3177=) | |
8 | g.99854060T>C | CA462458296 | VPS13B | c.10746T>C (p.Pro3582=) n.10816T>C c.*6428T>C (n.*6428T>C) c.10671T>C (p.Pro3557=) c.10743T>C (p.Pro3581=) c.10668T>C (p.Pro3556=) c.10368T>C (p.Pro3456=) c.7632T>C (p.Pro2544=) c.6525T>C (p.Pro2175=) c.10551T>C (p.Pro3517=) c.6303T>C (p.Pro2101=) c.9531T>C (p.Pro3177=) | |
8 | g.99854060T>G | CA462458295 | VPS13B | c.10746T>G (p.Pro3582=) n.10816T>G c.*6428T>G (n.*6428T>G) c.10671T>G (p.Pro3557=) c.10743T>G (p.Pro3581=) c.10668T>G (p.Pro3556=) c.10368T>G (p.Pro3456=) c.7632T>G (p.Pro2544=) c.6525T>G (p.Pro2175=) c.10551T>G (p.Pro3517=) c.6303T>G (p.Pro2101=) c.9531T>G (p.Pro3177=) | |
8 | g.99854061G>A | CA371785124 | VPS13B | c.10747G>A (p.Val3583Met) n.10817G>A c.*6429G>A (n.*6429G>A) c.10672G>A (p.Val3558Met) c.10744G>A (p.Val3582Met) c.10669G>A (p.Val3557Met) c.10369G>A (p.Val3457Met) c.7633G>A (p.Val2545Met) c.6526G>A (p.Val2176Met) c.10552G>A (p.Val3518Met) c.6304G>A (p.Val2102Met) c.9532G>A (p.Val3178Met) | |
8 | g.99854061G>C | CA371785127 | VPS13B | c.10747G>C (p.Val3583Leu) n.10817G>C c.*6429G>C (n.*6429G>C) c.10672G>C (p.Val3558Leu) c.10744G>C (p.Val3582Leu) c.10669G>C (p.Val3557Leu) c.10369G>C (p.Val3457Leu) c.7633G>C (p.Val2545Leu) c.6526G>C (p.Val2176Leu) c.10552G>C (p.Val3518Leu) c.6304G>C (p.Val2102Leu) c.9532G>C (p.Val3178Leu) | |
8 | g.99854061G>T | CA371785130 | VPS13B | c.10747G>T (p.Val3583Leu) n.10817G>T c.*6429G>T (n.*6429G>T) c.10672G>T (p.Val3558Leu) c.10744G>T (p.Val3582Leu) c.10669G>T (p.Val3557Leu) c.10369G>T (p.Val3457Leu) c.7633G>T (p.Val2545Leu) c.6526G>T (p.Val2176Leu) c.10552G>T (p.Val3518Leu) c.6304G>T (p.Val2102Leu) c.9532G>T (p.Val3178Leu) | |
8 | g.99854062T>A | CA371785136 | VPS13B | c.10748T>A (p.Val3583Glu) n.10818T>A c.*6430T>A (n.*6430T>A) c.10673T>A (p.Val3558Glu) c.10745T>A (p.Val3582Glu) c.10670T>A (p.Val3557Glu) c.10370T>A (p.Val3457Glu) c.7634T>A (p.Val2545Glu) c.6527T>A (p.Val2176Glu) c.10553T>A (p.Val3518Glu) c.6305T>A (p.Val2102Glu) c.9533T>A (p.Val3178Glu) | |
8 | g.99854062T>C | CA371785139 | VPS13B | c.10748T>C (p.Val3583Ala) n.10818T>C c.*6430T>C (n.*6430T>C) c.10673T>C (p.Val3558Ala) c.10745T>C (p.Val3582Ala) c.10670T>C (p.Val3557Ala) c.10370T>C (p.Val3457Ala) c.7634T>C (p.Val2545Ala) c.6527T>C (p.Val2176Ala) c.10553T>C (p.Val3518Ala) c.6305T>C (p.Val2102Ala) c.9533T>C (p.Val3178Ala) | |
8 | g.99854062T>G | CA371785140 | VPS13B | c.10748T>G (p.Val3583Gly) n.10818T>G c.*6430T>G (n.*6430T>G) c.10673T>G (p.Val3558Gly) c.10745T>G (p.Val3582Gly) c.10670T>G (p.Val3557Gly) c.10370T>G (p.Val3457Gly) c.7634T>G (p.Val2545Gly) c.6527T>G (p.Val2176Gly) c.10553T>G (p.Val3518Gly) c.6305T>G (p.Val2102Gly) c.9533T>G (p.Val3178Gly) | |
8 | g.99854062dup | CA16041270 | VPS13B | c.10748dup (p.Lys3584GlufsTer?) n.10818dup c.*6430dup (n.*6430dup) c.10673dup (p.Lys3559GlufsTer?) c.10745dup (p.Lys3583GlufsTer?) c.10670dup (p.Lys3558GlufsTer?) c.10370dup (p.Lys3458GlufsTer?) c.7634dup (p.Lys2546GlufsTer?) c.6527dup (p.Lys2177GlufsTer?) c.10553dup (p.Lys3519GlufsTer?) c.6305dup (p.Lys2103GlufsTer?) c.9533dup (p.Lys3179GlufsTer?) | ClinVar dbSNP |
8 | g.99854063G>A | CA462458300 | VPS13B | c.10749G>A (p.Val3583=) n.10819G>A c.*6431G>A (n.*6431G>A) c.10674G>A (p.Val3558=) c.10746G>A (p.Val3582=) c.10671G>A (p.Val3557=) c.10371G>A (p.Val3457=) c.7635G>A (p.Val2545=) c.6528G>A (p.Val2176=) c.10554G>A (p.Val3518=) c.6306G>A (p.Val2102=) c.9534G>A (p.Val3178=) | |
8 | g.99854063G>C | CA462458299 | VPS13B | c.10749G>C (p.Val3583=) n.10819G>C c.*6431G>C (n.*6431G>C) c.10674G>C (p.Val3558=) c.10746G>C (p.Val3582=) c.10671G>C (p.Val3557=) c.10371G>C (p.Val3457=) c.7635G>C (p.Val2545=) c.6528G>C (p.Val2176=) c.10554G>C (p.Val3518=) c.6306G>C (p.Val2102=) c.9534G>C (p.Val3178=) | |
8 | g.99854063G>T | CA462458298 | VPS13B | c.10749G>T (p.Val3583=) n.10819G>T c.*6431G>T (n.*6431G>T) c.10674G>T (p.Val3558=) c.10746G>T (p.Val3582=) c.10671G>T (p.Val3557=) c.10371G>T (p.Val3457=) c.7635G>T (p.Val2545=) c.6528G>T (p.Val2176=) c.10554G>T (p.Val3518=) c.6306G>T (p.Val2102=) c.9534G>T (p.Val3178=) | |
8 | g.99854064A>C | CA371785141 | VPS13B | c.10750A>C (p.Lys3584Gln) n.10820A>C c.*6432A>C (n.*6432A>C) c.10675A>C (p.Lys3559Gln) c.10747A>C (p.Lys3583Gln) c.10672A>C (p.Lys3558Gln) c.10372A>C (p.Lys3458Gln) c.7636A>C (p.Lys2546Gln) c.6529A>C (p.Lys2177Gln) c.10555A>C (p.Lys3519Gln) c.6307A>C (p.Lys2103Gln) c.9535A>C (p.Lys3179Gln) | |
8 | g.99854064A>G | CA371785142 | VPS13B | c.10750A>G (p.Lys3584Glu) n.10820A>G c.*6432A>G (n.*6432A>G) c.10675A>G (p.Lys3559Glu) c.10747A>G (p.Lys3583Glu) c.10672A>G (p.Lys3558Glu) c.10372A>G (p.Lys3458Glu) c.7636A>G (p.Lys2546Glu) c.6529A>G (p.Lys2177Glu) c.10555A>G (p.Lys3519Glu) c.6307A>G (p.Lys2103Glu) c.9535A>G (p.Lys3179Glu) | |
8 | g.99854064A>T | CA371785145 | VPS13B | c.10750A>T (p.Lys3584Ter) n.10820A>T c.*6432A>T (n.*6432A>T) c.10675A>T (p.Lys3559Ter) c.10747A>T (p.Lys3583Ter) c.10672A>T (p.Lys3558Ter) c.10372A>T (p.Lys3458Ter) c.7636A>T (p.Lys2546Ter) c.6529A>T (p.Lys2177Ter) c.10555A>T (p.Lys3519Ter) c.6307A>T (p.Lys2103Ter) c.9535A>T (p.Lys3179Ter) | ClinVar |
8 | g.99854065A>C | CA371785148 | VPS13B | c.10751A>C (p.Lys3584Thr) n.10821A>C c.*6433A>C (n.*6433A>C) c.10676A>C (p.Lys3559Thr) c.10748A>C (p.Lys3583Thr) c.10673A>C (p.Lys3558Thr) c.10373A>C (p.Lys3458Thr) c.7637A>C (p.Lys2546Thr) c.6530A>C (p.Lys2177Thr) c.10556A>C (p.Lys3519Thr) c.6308A>C (p.Lys2103Thr) c.9536A>C (p.Lys3179Thr) | |
8 | g.99854065A>G | CA371785149 | VPS13B | c.10751A>G (p.Lys3584Arg) n.10821A>G c.*6433A>G (n.*6433A>G) c.10676A>G (p.Lys3559Arg) c.10748A>G (p.Lys3583Arg) c.10673A>G (p.Lys3558Arg) c.10373A>G (p.Lys3458Arg) c.7637A>G (p.Lys2546Arg) c.6530A>G (p.Lys2177Arg) c.10556A>G (p.Lys3519Arg) c.6308A>G (p.Lys2103Arg) c.9536A>G (p.Lys3179Arg) | |
8 | g.99854065A>T | CA371785150 | VPS13B | c.10751A>T (p.Lys3584Met) n.10821A>T c.*6433A>T (n.*6433A>T) c.10676A>T (p.Lys3559Met) c.10748A>T (p.Lys3583Met) c.10673A>T (p.Lys3558Met) c.10373A>T (p.Lys3458Met) c.7637A>T (p.Lys2546Met) c.6530A>T (p.Lys2177Met) c.10556A>T (p.Lys3519Met) c.6308A>T (p.Lys2103Met) c.9536A>T (p.Lys3179Met) | |
8 | g.99854066G>A | CA462458301 | VPS13B | c.10752G>A (p.Lys3584=) n.10822G>A c.*6434G>A (n.*6434G>A) c.10677G>A (p.Lys3559=) c.10749G>A (p.Lys3583=) c.10674G>A (p.Lys3558=) c.10374G>A (p.Lys3458=) c.7638G>A (p.Lys2546=) c.6531G>A (p.Lys2177=) c.10557G>A (p.Lys3519=) c.6309G>A (p.Lys2103=) c.9537G>A (p.Lys3179=) | |
8 | g.99854066G>C | CA371785158 | VPS13B | c.10752G>C (p.Lys3584Asn) n.10822G>C c.*6434G>C (n.*6434G>C) c.10677G>C (p.Lys3559Asn) c.10749G>C (p.Lys3583Asn) c.10674G>C (p.Lys3558Asn) c.10374G>C (p.Lys3458Asn) c.7638G>C (p.Lys2546Asn) c.6531G>C (p.Lys2177Asn) c.10557G>C (p.Lys3519Asn) c.6309G>C (p.Lys2103Asn) c.9537G>C (p.Lys3179Asn) | |
8 | g.99854066G>T | CA371785155 | VPS13B | c.10752G>T (p.Lys3584Asn) n.10822G>T c.*6434G>T (n.*6434G>T) c.10677G>T (p.Lys3559Asn) c.10749G>T (p.Lys3583Asn) c.10674G>T (p.Lys3558Asn) c.10374G>T (p.Lys3458Asn) c.7638G>T (p.Lys2546Asn) c.6531G>T (p.Lys2177Asn) c.10557G>T (p.Lys3519Asn) c.6309G>T (p.Lys2103Asn) c.9537G>T (p.Lys3179Asn) | |
8 | g.99854067T>A | CA371785164 | VPS13B | c.10753T>A (p.Leu3585Ile) n.10823T>A c.*6435T>A (n.*6435T>A) c.10678T>A (p.Leu3560Ile) c.10750T>A (p.Leu3584Ile) c.10675T>A (p.Leu3559Ile) c.10375T>A (p.Leu3459Ile) c.7639T>A (p.Leu2547Ile) c.6532T>A (p.Leu2178Ile) c.10558T>A (p.Leu3520Ile) c.6310T>A (p.Leu2104Ile) c.9538T>A (p.Leu3180Ile) | |
8 | g.99854067T>C | CA462458302 | VPS13B | c.10753T>C (p.Leu3585=) n.10823T>C c.*6435T>C (n.*6435T>C) c.10678T>C (p.Leu3560=) c.10750T>C (p.Leu3584=) c.10675T>C (p.Leu3559=) c.10375T>C (p.Leu3459=) c.7639T>C (p.Leu2547=) c.6532T>C (p.Leu2178=) c.10558T>C (p.Leu3520=) c.6310T>C (p.Leu2104=) c.9538T>C (p.Leu3180=) | |
8 | g.99854067T>G | CA371785165 | VPS13B | c.10753T>G (p.Leu3585Val) n.10823T>G c.*6435T>G (n.*6435T>G) c.10678T>G (p.Leu3560Val) c.10750T>G (p.Leu3584Val) c.10675T>G (p.Leu3559Val) c.10375T>G (p.Leu3459Val) c.7639T>G (p.Leu2547Val) c.6532T>G (p.Leu2178Val) c.10558T>G (p.Leu3520Val) c.6310T>G (p.Leu2104Val) c.9538T>G (p.Leu3180Val) | |
8 | g.99854068T>A | CA371785166 | VPS13B | c.10754T>A (p.Leu3585Ter) n.10824T>A c.*6436T>A (n.*6436T>A) c.10679T>A (p.Leu3560Ter) c.10751T>A (p.Leu3584Ter) c.10676T>A (p.Leu3559Ter) c.10376T>A (p.Leu3459Ter) c.7640T>A (p.Leu2547Ter) c.6533T>A (p.Leu2178Ter) c.10559T>A (p.Leu3520Ter) c.6311T>A (p.Leu2104Ter) c.9539T>A (p.Leu3180Ter) | |
8 | g.99854068T>C | CA371785169 | VPS13B | c.10754T>C (p.Leu3585Ser) n.10824T>C c.*6436T>C (n.*6436T>C) c.10679T>C (p.Leu3560Ser) c.10751T>C (p.Leu3584Ser) c.10676T>C (p.Leu3559Ser) c.10376T>C (p.Leu3459Ser) c.7640T>C (p.Leu2547Ser) c.6533T>C (p.Leu2178Ser) c.10559T>C (p.Leu3520Ser) c.6311T>C (p.Leu2104Ser) c.9539T>C (p.Leu3180Ser) | |
8 | g.99854068T>G | CA371785171 | VPS13B | c.10754T>G (p.Leu3585Ter) n.10824T>G c.*6436T>G (n.*6436T>G) c.10679T>G (p.Leu3560Ter) c.10751T>G (p.Leu3584Ter) c.10676T>G (p.Leu3559Ter) c.10376T>G (p.Leu3459Ter) c.7640T>G (p.Leu2547Ter) c.6533T>G (p.Leu2178Ter) c.10559T>G (p.Leu3520Ter) c.6311T>G (p.Leu2104Ter) c.9539T>G (p.Leu3180Ter) | |
8 | g.99854069A>C | CA371785174 | VPS13B | c.10755A>C (p.Leu3585Phe) n.10825A>C c.*6437A>C (n.*6437A>C) c.10680A>C (p.Leu3560Phe) c.10752A>C (p.Leu3584Phe) c.10677A>C (p.Leu3559Phe) c.10377A>C (p.Leu3459Phe) c.7641A>C (p.Leu2547Phe) c.6534A>C (p.Leu2178Phe) c.10560A>C (p.Leu3520Phe) c.6312A>C (p.Leu2104Phe) c.9540A>C (p.Leu3180Phe) | |
8 | g.99854069A>G | CA4824994 | VPS13B | c.10755A>G (p.Leu3585=) n.10825A>G c.*6437A>G (n.*6437A>G) c.10680A>G (p.Leu3560=) c.10752A>G (p.Leu3584=) c.10677A>G (p.Leu3559=) c.10377A>G (p.Leu3459=) c.7641A>G (p.Leu2547=) c.6534A>G (p.Leu2178=) c.10560A>G (p.Leu3520=) c.6312A>G (p.Leu2104=) c.9540A>G (p.Leu3180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854069A>T | CA371785178 | VPS13B | c.10755A>T (p.Leu3585Phe) n.10825A>T c.*6437A>T (n.*6437A>T) c.10680A>T (p.Leu3560Phe) c.10752A>T (p.Leu3584Phe) c.10677A>T (p.Leu3559Phe) c.10377A>T (p.Leu3459Phe) c.7641A>T (p.Leu2547Phe) c.6534A>T (p.Leu2178Phe) c.10560A>T (p.Leu3520Phe) c.6312A>T (p.Leu2104Phe) c.9540A>T (p.Leu3180Phe) | |
8 | g.99854070C>A | CA462458303 | VPS13B | c.10756C>A (p.Arg3586=) n.10826C>A c.*6438C>A (n.*6438C>A) c.10681C>A (p.Arg3561=) c.10753C>A (p.Arg3585=) c.10678C>A (p.Arg3560=) c.10378C>A (p.Arg3460=) c.7642C>A (p.Arg2548=) c.6535C>A (p.Arg2179=) c.10561C>A (p.Arg3521=) c.6313C>A (p.Arg2105=) c.9541C>A (p.Arg3181=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99854070C>G | CA371785179 | VPS13B | c.10756C>G (p.Arg3586Gly) n.10826C>G c.*6438C>G (n.*6438C>G) c.10681C>G (p.Arg3561Gly) c.10753C>G (p.Arg3585Gly) c.10678C>G (p.Arg3560Gly) c.10378C>G (p.Arg3460Gly) c.7642C>G (p.Arg2548Gly) c.6535C>G (p.Arg2179Gly) c.10561C>G (p.Arg3521Gly) c.6313C>G (p.Arg2105Gly) c.9541C>G (p.Arg3181Gly) | |
8 | g.99854070C>T | CA4824995 | VPS13B | c.10756C>T (p.Arg3586Trp) n.10826C>T c.*6438C>T (n.*6438C>T) c.10681C>T (p.Arg3561Trp) c.10753C>T (p.Arg3585Trp) c.10678C>T (p.Arg3560Trp) c.10378C>T (p.Arg3460Trp) c.7642C>T (p.Arg2548Trp) c.6535C>T (p.Arg2179Trp) c.10561C>T (p.Arg3521Trp) c.6313C>T (p.Arg2105Trp) c.9541C>T (p.Arg3181Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99854071G>A | CA4824996 | VPS13B | c.10757G>A (p.Arg3586Gln) n.10827G>A c.*6439G>A (n.*6439G>A) c.10682G>A (p.Arg3561Gln) c.10754G>A (p.Arg3585Gln) c.10679G>A (p.Arg3560Gln) c.10379G>A (p.Arg3460Gln) c.7643G>A (p.Arg2548Gln) c.6536G>A (p.Arg2179Gln) c.10562G>A (p.Arg3521Gln) c.6314G>A (p.Arg2105Gln) c.9542G>A (p.Arg3181Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854071G>C | CA371785184 | VPS13B | c.10757G>C (p.Arg3586Pro) n.10827G>C c.*6439G>C (n.*6439G>C) c.10682G>C (p.Arg3561Pro) c.10754G>C (p.Arg3585Pro) c.10679G>C (p.Arg3560Pro) c.10379G>C (p.Arg3460Pro) c.7643G>C (p.Arg2548Pro) c.6536G>C (p.Arg2179Pro) c.10562G>C (p.Arg3521Pro) c.6314G>C (p.Arg2105Pro) c.9542G>C (p.Arg3181Pro) | gnomAD v4 |
8 | g.99854071G>T | CA371785186 | VPS13B | c.10757G>T (p.Arg3586Leu) n.10827G>T c.*6439G>T (n.*6439G>T) c.10682G>T (p.Arg3561Leu) c.10754G>T (p.Arg3585Leu) c.10679G>T (p.Arg3560Leu) c.10379G>T (p.Arg3460Leu) c.7643G>T (p.Arg2548Leu) c.6536G>T (p.Arg2179Leu) c.10562G>T (p.Arg3521Leu) c.6314G>T (p.Arg2105Leu) c.9542G>T (p.Arg3181Leu) | |
8 | g.99854072G>A | CA462458304 | VPS13B | c.10758G>A (p.Arg3586=) n.10828G>A c.*6440G>A (n.*6440G>A) c.10683G>A (p.Arg3561=) c.10755G>A (p.Arg3585=) c.10680G>A (p.Arg3560=) c.10380G>A (p.Arg3460=) c.7644G>A (p.Arg2548=) c.6537G>A (p.Arg2179=) c.10563G>A (p.Arg3521=) c.6315G>A (p.Arg2105=) c.9543G>A (p.Arg3181=) | |
8 | g.99854072G>C | CA462458305 | VPS13B | c.10758G>C (p.Arg3586=) n.10828G>C c.*6440G>C (n.*6440G>C) c.10683G>C (p.Arg3561=) c.10755G>C (p.Arg3585=) c.10680G>C (p.Arg3560=) c.10380G>C (p.Arg3460=) c.7644G>C (p.Arg2548=) c.6537G>C (p.Arg2179=) c.10563G>C (p.Arg3521=) c.6315G>C (p.Arg2105=) c.9543G>C (p.Arg3181=) | |
8 | g.99854072G>T | CA462458306 | VPS13B | c.10758G>T (p.Arg3586=) n.10828G>T c.*6440G>T (n.*6440G>T) c.10683G>T (p.Arg3561=) c.10755G>T (p.Arg3585=) c.10680G>T (p.Arg3560=) c.10380G>T (p.Arg3460=) c.7644G>T (p.Arg2548=) c.6537G>T (p.Arg2179=) c.10563G>T (p.Arg3521=) c.6315G>T (p.Arg2105=) c.9543G>T (p.Arg3181=) | |
8 | g.99854073A>C | CA371785189 | VPS13B | c.10759A>C (p.Lys3587Gln) n.10829A>C c.*6441A>C (n.*6441A>C) c.10684A>C (p.Lys3562Gln) c.10756A>C (p.Lys3586Gln) c.10681A>C (p.Lys3561Gln) c.10381A>C (p.Lys3461Gln) c.7645A>C (p.Lys2549Gln) c.6538A>C (p.Lys2180Gln) c.10564A>C (p.Lys3522Gln) c.6316A>C (p.Lys2106Gln) c.9544A>C (p.Lys3182Gln) | gnomAD v4 |
8 | g.99854073A>G | CA4824997 | VPS13B | c.10759A>G (p.Lys3587Glu) n.10829A>G c.*6441A>G (n.*6441A>G) c.10684A>G (p.Lys3562Glu) c.10756A>G (p.Lys3586Glu) c.10681A>G (p.Lys3561Glu) c.10381A>G (p.Lys3461Glu) c.7645A>G (p.Lys2549Glu) c.6538A>G (p.Lys2180Glu) c.10564A>G (p.Lys3522Glu) c.6316A>G (p.Lys2106Glu) c.9544A>G (p.Lys3182Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854073A>T | CA371785187 | VPS13B | c.10759A>T (p.Lys3587Ter) n.10829A>T c.*6441A>T (n.*6441A>T) c.10684A>T (p.Lys3562Ter) c.10756A>T (p.Lys3586Ter) c.10681A>T (p.Lys3561Ter) c.10381A>T (p.Lys3461Ter) c.7645A>T (p.Lys2549Ter) c.6538A>T (p.Lys2180Ter) c.10564A>T (p.Lys3522Ter) c.6316A>T (p.Lys2106Ter) c.9544A>T (p.Lys3182Ter) | |
8 | g.99854074A>C | CA371785192 | VPS13B | c.10760A>C (p.Lys3587Thr) n.10830A>C c.*6442A>C (n.*6442A>C) c.10685A>C (p.Lys3562Thr) c.10757A>C (p.Lys3586Thr) c.10682A>C (p.Lys3561Thr) c.10382A>C (p.Lys3461Thr) c.7646A>C (p.Lys2549Thr) c.6539A>C (p.Lys2180Thr) c.10565A>C (p.Lys3522Thr) c.6317A>C (p.Lys2106Thr) c.9545A>C (p.Lys3182Thr) | |
8 | g.99854074A>G | CA371785193 | VPS13B | c.10760A>G (p.Lys3587Arg) n.10830A>G c.*6442A>G (n.*6442A>G) c.10685A>G (p.Lys3562Arg) c.10757A>G (p.Lys3586Arg) c.10682A>G (p.Lys3561Arg) c.10382A>G (p.Lys3461Arg) c.7646A>G (p.Lys2549Arg) c.6539A>G (p.Lys2180Arg) c.10565A>G (p.Lys3522Arg) c.6317A>G (p.Lys2106Arg) c.9545A>G (p.Lys3182Arg) | |
8 | g.99854074A>T | CA371785196 | VPS13B | c.10760A>T (p.Lys3587Ile) n.10830A>T c.*6442A>T (n.*6442A>T) c.10685A>T (p.Lys3562Ile) c.10757A>T (p.Lys3586Ile) c.10682A>T (p.Lys3561Ile) c.10382A>T (p.Lys3461Ile) c.7646A>T (p.Lys2549Ile) c.6539A>T (p.Lys2180Ile) c.10565A>T (p.Lys3522Ile) c.6317A>T (p.Lys2106Ile) c.9545A>T (p.Lys3182Ile) | |
8 | g.99854075A>C | CA371785198 | VPS13B | c.10761A>C (p.Lys3587Asn) n.10831A>C c.*6443A>C (n.*6443A>C) c.10686A>C (p.Lys3562Asn) c.10758A>C (p.Lys3586Asn) c.10683A>C (p.Lys3561Asn) c.10383A>C (p.Lys3461Asn) c.7647A>C (p.Lys2549Asn) c.6540A>C (p.Lys2180Asn) c.10566A>C (p.Lys3522Asn) c.6318A>C (p.Lys2106Asn) c.9546A>C (p.Lys3182Asn) | |
8 | g.99854075A>G | CA462458307 | VPS13B | c.10761A>G (p.Lys3587=) n.10831A>G c.*6443A>G (n.*6443A>G) c.10686A>G (p.Lys3562=) c.10758A>G (p.Lys3586=) c.10683A>G (p.Lys3561=) c.10383A>G (p.Lys3461=) c.7647A>G (p.Lys2549=) c.6540A>G (p.Lys2180=) c.10566A>G (p.Lys3522=) c.6318A>G (p.Lys2106=) c.9546A>G (p.Lys3182=) | |
8 | g.99854075A>T | CA371785200 | VPS13B | c.10761A>T (p.Lys3587Asn) n.10831A>T c.*6443A>T (n.*6443A>T) c.10686A>T (p.Lys3562Asn) c.10758A>T (p.Lys3586Asn) c.10683A>T (p.Lys3561Asn) c.10383A>T (p.Lys3461Asn) c.7647A>T (p.Lys2549Asn) c.6540A>T (p.Lys2180Asn) c.10566A>T (p.Lys3522Asn) c.6318A>T (p.Lys2106Asn) c.9546A>T (p.Lys3182Asn) | |
8 | g.99854076C>A | CA371785204 | VPS13B | c.10762C>A (p.Leu3588Met) n.10832C>A c.*6444C>A (n.*6444C>A) c.10687C>A (p.Leu3563Met) c.10759C>A (p.Leu3587Met) c.10684C>A (p.Leu3562Met) c.10384C>A (p.Leu3462Met) c.7648C>A (p.Leu2550Met) c.6541C>A (p.Leu2181Met) c.10567C>A (p.Leu3523Met) c.6319C>A (p.Leu2107Met) c.9547C>A (p.Leu3183Met) | |
8 | g.99854076C>G | CA371785208 | VPS13B | c.10762C>G (p.Leu3588Val) n.10832C>G c.*6444C>G (n.*6444C>G) c.10687C>G (p.Leu3563Val) c.10759C>G (p.Leu3587Val) c.10684C>G (p.Leu3562Val) c.10384C>G (p.Leu3462Val) c.7648C>G (p.Leu2550Val) c.6541C>G (p.Leu2181Val) c.10567C>G (p.Leu3523Val) c.6319C>G (p.Leu2107Val) c.9547C>G (p.Leu3183Val) | |
8 | g.99854076C>T | CA462458308 | VPS13B | c.10762C>T (p.Leu3588=) n.10832C>T c.*6444C>T (n.*6444C>T) c.10687C>T (p.Leu3563=) c.10759C>T (p.Leu3587=) c.10684C>T (p.Leu3562=) c.10384C>T (p.Leu3462=) c.7648C>T (p.Leu2550=) c.6541C>T (p.Leu2181=) c.10567C>T (p.Leu3523=) c.6319C>T (p.Leu2107=) c.9547C>T (p.Leu3183=) | gnomAD v4 |
8 | g.99854077T>A | CA371785211 | VPS13B | c.10763T>A (p.Leu3588Gln) n.10833T>A c.*6445T>A (n.*6445T>A) c.10688T>A (p.Leu3563Gln) c.10760T>A (p.Leu3587Gln) c.10685T>A (p.Leu3562Gln) c.10385T>A (p.Leu3462Gln) c.7649T>A (p.Leu2550Gln) c.6542T>A (p.Leu2181Gln) c.10568T>A (p.Leu3523Gln) c.6320T>A (p.Leu2107Gln) c.9548T>A (p.Leu3183Gln) | |
8 | g.99854077T>C | CA4824998 | VPS13B | c.10763T>C (p.Leu3588Pro) n.10833T>C c.*6445T>C (n.*6445T>C) c.10688T>C (p.Leu3563Pro) c.10760T>C (p.Leu3587Pro) c.10685T>C (p.Leu3562Pro) c.10385T>C (p.Leu3462Pro) c.7649T>C (p.Leu2550Pro) c.6542T>C (p.Leu2181Pro) c.10568T>C (p.Leu3523Pro) c.6320T>C (p.Leu2107Pro) c.9548T>C (p.Leu3183Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854077T>G | CA371785216 | VPS13B | c.10763T>G (p.Leu3588Arg) n.10833T>G c.*6445T>G (n.*6445T>G) c.10688T>G (p.Leu3563Arg) c.10760T>G (p.Leu3587Arg) c.10685T>G (p.Leu3562Arg) c.10385T>G (p.Leu3462Arg) c.7649T>G (p.Leu2550Arg) c.6542T>G (p.Leu2181Arg) c.10568T>G (p.Leu3523Arg) c.6320T>G (p.Leu2107Arg) c.9548T>G (p.Leu3183Arg) | |
8 | g.99854078G>A | CA462458309 | VPS13B | c.10764G>A (p.Leu3588=) n.10834G>A c.*6446G>A (n.*6446G>A) c.10689G>A (p.Leu3563=) c.10761G>A (p.Leu3587=) c.10686G>A (p.Leu3562=) c.10386G>A (p.Leu3462=) c.7650G>A (p.Leu2550=) c.6543G>A (p.Leu2181=) c.10569G>A (p.Leu3523=) c.6321G>A (p.Leu2107=) c.9549G>A (p.Leu3183=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99854078G>C | CA462458310 | VPS13B | c.10764G>C (p.Leu3588=) n.10834G>C c.*6446G>C (n.*6446G>C) c.10689G>C (p.Leu3563=) c.10761G>C (p.Leu3587=) c.10686G>C (p.Leu3562=) c.10386G>C (p.Leu3462=) c.7650G>C (p.Leu2550=) c.6543G>C (p.Leu2181=) c.10569G>C (p.Leu3523=) c.6321G>C (p.Leu2107=) c.9549G>C (p.Leu3183=) | |
8 | g.99854078G>T | CA462458311 | VPS13B | c.10764G>T (p.Leu3588=) n.10834G>T c.*6446G>T (n.*6446G>T) c.10689G>T (p.Leu3563=) c.10761G>T (p.Leu3587=) c.10686G>T (p.Leu3562=) c.10386G>T (p.Leu3462=) c.7650G>T (p.Leu2550=) c.6543G>T (p.Leu2181=) c.10569G>T (p.Leu3523=) c.6321G>T (p.Leu2107=) c.9549G>T (p.Leu3183=) | |
8 | g.99854079G>A | CA4825000 | VPS13B | c.10765G>A (p.Val3589Met) n.10835G>A c.*6447G>A (n.*6447G>A) c.10690G>A (p.Val3564Met) c.10762G>A (p.Val3588Met) c.10687G>A (p.Val3563Met) c.10387G>A (p.Val3463Met) c.7651G>A (p.Val2551Met) c.6544G>A (p.Val2182Met) c.10570G>A (p.Val3524Met) c.6322G>A (p.Val2108Met) c.9550G>A (p.Val3184Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854079G>C | CA4824999 | VPS13B | c.10765G>C (p.Val3589Leu) n.10835G>C c.*6447G>C (n.*6447G>C) c.10690G>C (p.Val3564Leu) c.10762G>C (p.Val3588Leu) c.10687G>C (p.Val3563Leu) c.10387G>C (p.Val3463Leu) c.7651G>C (p.Val2551Leu) c.6544G>C (p.Val2182Leu) c.10570G>C (p.Val3524Leu) c.6322G>C (p.Val2108Leu) c.9550G>C (p.Val3184Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854079G>T | CA371785222 | VPS13B | c.10765G>T (p.Val3589Leu) n.10835G>T c.*6447G>T (n.*6447G>T) c.10690G>T (p.Val3564Leu) c.10762G>T (p.Val3588Leu) c.10687G>T (p.Val3563Leu) c.10387G>T (p.Val3463Leu) c.7651G>T (p.Val2551Leu) c.6544G>T (p.Val2182Leu) c.10570G>T (p.Val3524Leu) c.6322G>T (p.Val2108Leu) c.9550G>T (p.Val3184Leu) | |
8 | g.99854080T>A | CA371785232 | VPS13B | c.10766T>A (p.Val3589Glu) n.10836T>A c.*6448T>A (n.*6448T>A) c.10691T>A (p.Val3564Glu) c.10763T>A (p.Val3588Glu) c.10688T>A (p.Val3563Glu) c.10388T>A (p.Val3463Glu) c.7652T>A (p.Val2551Glu) c.6545T>A (p.Val2182Glu) c.10571T>A (p.Val3524Glu) c.6323T>A (p.Val2108Glu) c.9551T>A (p.Val3184Glu) | |
8 | g.99854080T>C | CA371785239 | VPS13B | c.10766T>C (p.Val3589Ala) n.10836T>C c.*6448T>C (n.*6448T>C) c.10691T>C (p.Val3564Ala) c.10763T>C (p.Val3588Ala) c.10688T>C (p.Val3563Ala) c.10388T>C (p.Val3463Ala) c.7652T>C (p.Val2551Ala) c.6545T>C (p.Val2182Ala) c.10571T>C (p.Val3524Ala) c.6323T>C (p.Val2108Ala) c.9551T>C (p.Val3184Ala) | |
8 | g.99854080T>G | CA371785225 | VPS13B | c.10766T>G (p.Val3589Gly) n.10836T>G c.*6448T>G (n.*6448T>G) c.10691T>G (p.Val3564Gly) c.10763T>G (p.Val3588Gly) c.10688T>G (p.Val3563Gly) c.10388T>G (p.Val3463Gly) c.7652T>G (p.Val2551Gly) c.6545T>G (p.Val2182Gly) c.10571T>G (p.Val3524Gly) c.6323T>G (p.Val2108Gly) c.9551T>G (p.Val3184Gly) | |
8 | g.99854081G>A | CA462458313 | VPS13B | c.10767G>A (p.Val3589=) n.10837G>A c.*6449G>A (n.*6449G>A) c.10692G>A (p.Val3564=) c.10764G>A (p.Val3588=) c.10689G>A (p.Val3563=) c.10389G>A (p.Val3463=) c.7653G>A (p.Val2551=) c.6546G>A (p.Val2182=) c.10572G>A (p.Val3524=) c.6324G>A (p.Val2108=) c.9552G>A (p.Val3184=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99854081G>C | CA462458314 | VPS13B | c.10767G>C (p.Val3589=) n.10837G>C c.*6449G>C (n.*6449G>C) c.10692G>C (p.Val3564=) c.10764G>C (p.Val3588=) c.10689G>C (p.Val3563=) c.10389G>C (p.Val3463=) c.7653G>C (p.Val2551=) c.6546G>C (p.Val2182=) c.10572G>C (p.Val3524=) c.6324G>C (p.Val2108=) c.9552G>C (p.Val3184=) | |
8 | g.99854081G>T | CA462458312 | VPS13B | c.10767G>T (p.Val3589=) n.10837G>T c.*6449G>T (n.*6449G>T) c.10692G>T (p.Val3564=) c.10764G>T (p.Val3588=) c.10689G>T (p.Val3563=) c.10389G>T (p.Val3463=) c.7653G>T (p.Val2551=) c.6546G>T (p.Val2182=) c.10572G>T (p.Val3524=) c.6324G>T (p.Val2108=) c.9552G>T (p.Val3184=) | |
8 | g.99854082A>C | CA371785242 | VPS13B | c.10768A>C (p.Ile3590Leu) n.10838A>C c.*6450A>C (n.*6450A>C) c.10693A>C (p.Ile3565Leu) c.10765A>C (p.Ile3589Leu) c.10690A>C (p.Ile3564Leu) c.10390A>C (p.Ile3464Leu) c.7654A>C (p.Ile2552Leu) c.6547A>C (p.Ile2183Leu) c.10573A>C (p.Ile3525Leu) c.6325A>C (p.Ile2109Leu) c.9553A>C (p.Ile3185Leu) | |
8 | g.99854082A>G | CA371785246 | VPS13B | c.10768A>G (p.Ile3590Val) n.10838A>G c.*6450A>G (n.*6450A>G) c.10693A>G (p.Ile3565Val) c.10765A>G (p.Ile3589Val) c.10690A>G (p.Ile3564Val) c.10390A>G (p.Ile3464Val) c.7654A>G (p.Ile2552Val) c.6547A>G (p.Ile2183Val) c.10573A>G (p.Ile3525Val) c.6325A>G (p.Ile2109Val) c.9553A>G (p.Ile3185Val) | |
8 | g.99854082A>T | CA371785244 | VPS13B | c.10768A>T (p.Ile3590Phe) n.10838A>T c.*6450A>T (n.*6450A>T) c.10693A>T (p.Ile3565Phe) c.10765A>T (p.Ile3589Phe) c.10690A>T (p.Ile3564Phe) c.10390A>T (p.Ile3464Phe) c.7654A>T (p.Ile2552Phe) c.6547A>T (p.Ile2183Phe) c.10573A>T (p.Ile3525Phe) c.6325A>T (p.Ile2109Phe) c.9553A>T (p.Ile3185Phe) | |
8 | g.99854083T>A | CA371785252 | VPS13B | c.10769T>A (p.Ile3590Asn) n.10839T>A c.*6451T>A (n.*6451T>A) c.10694T>A (p.Ile3565Asn) c.10766T>A (p.Ile3589Asn) c.10691T>A (p.Ile3564Asn) c.10391T>A (p.Ile3464Asn) c.7655T>A (p.Ile2552Asn) c.6548T>A (p.Ile2183Asn) c.10574T>A (p.Ile3525Asn) c.6326T>A (p.Ile2109Asn) c.9554T>A (p.Ile3185Asn) | |
8 | g.99854083T>C | CA4825001 | VPS13B | c.10769T>C (p.Ile3590Thr) n.10839T>C c.*6451T>C (n.*6451T>C) c.10694T>C (p.Ile3565Thr) c.10766T>C (p.Ile3589Thr) c.10691T>C (p.Ile3564Thr) c.10391T>C (p.Ile3464Thr) c.7655T>C (p.Ile2552Thr) c.6548T>C (p.Ile2183Thr) c.10574T>C (p.Ile3525Thr) c.6326T>C (p.Ile2109Thr) c.9554T>C (p.Ile3185Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854083T>G | CA371785254 | VPS13B | c.10769T>G (p.Ile3590Ser) n.10839T>G c.*6451T>G (n.*6451T>G) c.10694T>G (p.Ile3565Ser) c.10766T>G (p.Ile3589Ser) c.10691T>G (p.Ile3564Ser) c.10391T>G (p.Ile3464Ser) c.7655T>G (p.Ile2552Ser) c.6548T>G (p.Ile2183Ser) c.10574T>G (p.Ile3525Ser) c.6326T>G (p.Ile2109Ser) c.9554T>G (p.Ile3185Ser) | |
8 | g.99854084C>A | CA462458315 | VPS13B | c.10770C>A (p.Ile3590=) n.10840C>A c.*6452C>A (n.*6452C>A) c.10695C>A (p.Ile3565=) c.10767C>A (p.Ile3589=) c.10692C>A (p.Ile3564=) c.10392C>A (p.Ile3464=) c.7656C>A (p.Ile2552=) c.6549C>A (p.Ile2183=) c.10575C>A (p.Ile3525=) c.6327C>A (p.Ile2109=) c.9555C>A (p.Ile3185=) | gnomAD v4 |
8 | g.99854084C>G | CA371785256 | VPS13B | c.10770C>G (p.Ile3590Met) n.10840C>G c.*6452C>G (n.*6452C>G) c.10695C>G (p.Ile3565Met) c.10767C>G (p.Ile3589Met) c.10692C>G (p.Ile3564Met) c.10392C>G (p.Ile3464Met) c.7656C>G (p.Ile2552Met) c.6549C>G (p.Ile2183Met) c.10575C>G (p.Ile3525Met) c.6327C>G (p.Ile2109Met) c.9555C>G (p.Ile3185Met) | |
8 | g.99854084C>T | CA462458316 | VPS13B | c.10770C>T (p.Ile3590=) n.10840C>T c.*6452C>T (n.*6452C>T) c.10695C>T (p.Ile3565=) c.10767C>T (p.Ile3589=) c.10692C>T (p.Ile3564=) c.10392C>T (p.Ile3464=) c.7656C>T (p.Ile2552=) c.6549C>T (p.Ile2183=) c.10575C>T (p.Ile3525=) c.6327C>T (p.Ile2109=) c.9555C>T (p.Ile3185=) | gnomAD v4 |
8 | g.99854085dup | CA2497231566 | VPS13B | c.10771dup (p.Gln3591ProfsTer30) n.10841dup c.*6453dup (n.*6453dup) c.10696dup (p.Gln3566ProfsTer30) c.10768dup (p.Gln3590ProfsTer30) c.10693dup (p.Gln3565ProfsTer30) c.10393dup (p.Gln3465ProfsTer30) c.7657dup (p.Gln2553ProfsTer30) c.6550dup (p.Gln2184ProfsTer30) c.10576dup (p.Gln3526ProfsTer30) c.6328dup (p.Gln2110ProfsTer30) c.9556dup (p.Gln3186ProfsTer30) | dbSNP |
8 | g.99854085C>A | CA371785262 | VPS13B | c.10771C>A (p.Gln3591Lys) n.10841C>A c.*6453C>A (n.*6453C>A) c.10696C>A (p.Gln3566Lys) c.10768C>A (p.Gln3590Lys) c.10693C>A (p.Gln3565Lys) c.10393C>A (p.Gln3465Lys) c.7657C>A (p.Gln2553Lys) c.6550C>A (p.Gln2184Lys) c.10576C>A (p.Gln3526Lys) c.6328C>A (p.Gln2110Lys) c.9556C>A (p.Gln3186Lys) | |
8 | g.99854085C>G | CA371785266 | VPS13B | c.10771C>G (p.Gln3591Glu) n.10841C>G c.*6453C>G (n.*6453C>G) c.10696C>G (p.Gln3566Glu) c.10768C>G (p.Gln3590Glu) c.10693C>G (p.Gln3565Glu) c.10393C>G (p.Gln3465Glu) c.7657C>G (p.Gln2553Glu) c.6550C>G (p.Gln2184Glu) c.10576C>G (p.Gln3526Glu) c.6328C>G (p.Gln2110Glu) c.9556C>G (p.Gln3186Glu) | |
8 | g.99854085C>T | CA371785272 | VPS13B | c.10771C>T (p.Gln3591Ter) n.10841C>T c.*6453C>T (n.*6453C>T) c.10696C>T (p.Gln3566Ter) c.10768C>T (p.Gln3590Ter) c.10693C>T (p.Gln3565Ter) c.10393C>T (p.Gln3465Ter) c.7657C>T (p.Gln2553Ter) c.6550C>T (p.Gln2184Ter) c.10576C>T (p.Gln3526Ter) c.6328C>T (p.Gln2110Ter) c.9556C>T (p.Gln3186Ter) | ClinVar dbSNP |
8 | g.99854086A>C | CA371785283 | VPS13B | c.10772A>C (p.Gln3591Pro) n.10842A>C c.*6454A>C (n.*6454A>C) c.10697A>C (p.Gln3566Pro) c.10769A>C (p.Gln3590Pro) c.10694A>C (p.Gln3565Pro) c.10394A>C (p.Gln3465Pro) c.7658A>C (p.Gln2553Pro) c.6551A>C (p.Gln2184Pro) c.10577A>C (p.Gln3526Pro) c.6329A>C (p.Gln2110Pro) c.9557A>C (p.Gln3186Pro) | |
8 | g.99854086A>G | CA371785285 | VPS13B | c.10772A>G (p.Gln3591Arg) n.10842A>G c.*6454A>G (n.*6454A>G) c.10697A>G (p.Gln3566Arg) c.10769A>G (p.Gln3590Arg) c.10694A>G (p.Gln3565Arg) c.10394A>G (p.Gln3465Arg) c.7658A>G (p.Gln2553Arg) c.6551A>G (p.Gln2184Arg) c.10577A>G (p.Gln3526Arg) c.6329A>G (p.Gln2110Arg) c.9557A>G (p.Gln3186Arg) | |
8 | g.99854086A>T | CA371785286 | VPS13B | c.10772A>T (p.Gln3591Leu) n.10842A>T c.*6454A>T (n.*6454A>T) c.10697A>T (p.Gln3566Leu) c.10769A>T (p.Gln3590Leu) c.10694A>T (p.Gln3565Leu) c.10394A>T (p.Gln3465Leu) c.7658A>T (p.Gln2553Leu) c.6551A>T (p.Gln2184Leu) c.10577A>T (p.Gln3526Leu) c.6329A>T (p.Gln2110Leu) c.9557A>T (p.Gln3186Leu) | |
8 | g.99854087G>A | CA462458317 | VPS13B | c.10773G>A (p.Gln3591=) n.10843G>A c.*6455G>A (n.*6455G>A) c.10698G>A (p.Gln3566=) c.10770G>A (p.Gln3590=) c.10695G>A (p.Gln3565=) c.10395G>A (p.Gln3465=) c.7659G>A (p.Gln2553=) c.6552G>A (p.Gln2184=) c.10578G>A (p.Gln3526=) c.6330G>A (p.Gln2110=) c.9558G>A (p.Gln3186=) | gnomAD v4 |
8 | g.99854087G>C | CA371785289 | VPS13B | c.10773G>C (p.Gln3591His) n.10843G>C c.*6455G>C (n.*6455G>C) c.10698G>C (p.Gln3566His) c.10770G>C (p.Gln3590His) c.10695G>C (p.Gln3565His) c.10395G>C (p.Gln3465His) c.7659G>C (p.Gln2553His) c.6552G>C (p.Gln2184His) c.10578G>C (p.Gln3526His) c.6330G>C (p.Gln2110His) c.9558G>C (p.Gln3186His) | |
8 | g.99854087G>T | CA371785295 | VPS13B | c.10773G>T (p.Gln3591His) n.10843G>T c.*6455G>T (n.*6455G>T) c.10698G>T (p.Gln3566His) c.10770G>T (p.Gln3590His) c.10695G>T (p.Gln3565His) c.10395G>T (p.Gln3465His) c.7659G>T (p.Gln2553His) c.6552G>T (p.Gln2184His) c.10578G>T (p.Gln3526His) c.6330G>T (p.Gln2110His) c.9558G>T (p.Gln3186His) | |
8 | g.99854088C>A | CA4825002 | VPS13B | c.10774C>A (p.Pro3592Thr) n.10844C>A c.*6456C>A (n.*6456C>A) c.10699C>A (p.Pro3567Thr) c.10771C>A (p.Pro3591Thr) c.10696C>A (p.Pro3566Thr) c.10396C>A (p.Pro3466Thr) c.7660C>A (p.Pro2554Thr) c.6553C>A (p.Pro2185Thr) c.10579C>A (p.Pro3527Thr) c.6331C>A (p.Pro2111Thr) c.9559C>A (p.Pro3187Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854088C>G | CA371785308 | VPS13B | c.10774C>G (p.Pro3592Ala) n.10844C>G c.*6456C>G (n.*6456C>G) c.10699C>G (p.Pro3567Ala) c.10771C>G (p.Pro3591Ala) c.10696C>G (p.Pro3566Ala) c.10396C>G (p.Pro3466Ala) c.7660C>G (p.Pro2554Ala) c.6553C>G (p.Pro2185Ala) c.10579C>G (p.Pro3527Ala) c.6331C>G (p.Pro2111Ala) c.9559C>G (p.Pro3187Ala) | |
8 | g.99854088C>T | CA371785300 | VPS13B | c.10774C>T (p.Pro3592Ser) n.10844C>T c.*6456C>T (n.*6456C>T) c.10699C>T (p.Pro3567Ser) c.10771C>T (p.Pro3591Ser) c.10696C>T (p.Pro3566Ser) c.10396C>T (p.Pro3466Ser) c.7660C>T (p.Pro2554Ser) c.6553C>T (p.Pro2185Ser) c.10579C>T (p.Pro3527Ser) c.6331C>T (p.Pro2111Ser) c.9559C>T (p.Pro3187Ser) | |
8 | g.99854089del | CA1117127448 | VPS13B | c.10775del (p.Pro3592GlnfsTer2) n.10845del c.*6457del (n.*6457del) c.10700del (p.Pro3567GlnfsTer2) c.10772del (p.Pro3591GlnfsTer2) c.10697del (p.Pro3566GlnfsTer2) c.10397del (p.Pro3466GlnfsTer2) c.7661del (p.Pro2554GlnfsTer2) c.6554del (p.Pro2185GlnfsTer2) c.10580del (p.Pro3527GlnfsTer2) c.6332del (p.Pro2111GlnfsTer2) c.9560del (p.Pro3187GlnfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99854089C>A | CA371785320 | VPS13B | c.10775C>A (p.Pro3592Gln) n.10845C>A c.*6457C>A (n.*6457C>A) c.10700C>A (p.Pro3567Gln) c.10772C>A (p.Pro3591Gln) c.10697C>A (p.Pro3566Gln) c.10397C>A (p.Pro3466Gln) c.7661C>A (p.Pro2554Gln) c.6554C>A (p.Pro2185Gln) c.10580C>A (p.Pro3527Gln) c.6332C>A (p.Pro2111Gln) c.9560C>A (p.Pro3187Gln) | |
8 | g.99854089C>G | CA371785322 | VPS13B | c.10775C>G (p.Pro3592Arg) n.10845C>G c.*6457C>G (n.*6457C>G) c.10700C>G (p.Pro3567Arg) c.10772C>G (p.Pro3591Arg) c.10697C>G (p.Pro3566Arg) c.10397C>G (p.Pro3466Arg) c.7661C>G (p.Pro2554Arg) c.6554C>G (p.Pro2185Arg) c.10580C>G (p.Pro3527Arg) c.6332C>G (p.Pro2111Arg) c.9560C>G (p.Pro3187Arg) | |
8 | g.99854089C>T | CA371785323 | VPS13B | c.10775C>T (p.Pro3592Leu) n.10845C>T c.*6457C>T (n.*6457C>T) c.10700C>T (p.Pro3567Leu) c.10772C>T (p.Pro3591Leu) c.10697C>T (p.Pro3566Leu) c.10397C>T (p.Pro3466Leu) c.7661C>T (p.Pro2554Leu) c.6554C>T (p.Pro2185Leu) c.10580C>T (p.Pro3527Leu) c.6332C>T (p.Pro2111Leu) c.9560C>T (p.Pro3187Leu) | |
8 | g.99854090A>C | CA462458318 | VPS13B | c.10776A>C (p.Pro3592=) n.10846A>C c.*6458A>C (n.*6458A>C) c.10701A>C (p.Pro3567=) c.10773A>C (p.Pro3591=) c.10698A>C (p.Pro3566=) c.10398A>C (p.Pro3466=) c.7662A>C (p.Pro2554=) c.6555A>C (p.Pro2185=) c.10581A>C (p.Pro3527=) c.6333A>C (p.Pro2111=) c.9561A>C (p.Pro3187=) | |
8 | g.99854090A>G | CA462458319 | VPS13B | c.10776A>G (p.Pro3592=) n.10846A>G c.*6458A>G (n.*6458A>G) c.10701A>G (p.Pro3567=) c.10773A>G (p.Pro3591=) c.10698A>G (p.Pro3566=) c.10398A>G (p.Pro3466=) c.7662A>G (p.Pro2554=) c.6555A>G (p.Pro2185=) c.10581A>G (p.Pro3527=) c.6333A>G (p.Pro2111=) c.9561A>G (p.Pro3187=) | gnomAD v4 |
8 | g.99854090A>T | CA462458320 | VPS13B | c.10776A>T (p.Pro3592=) n.10846A>T c.*6458A>T (n.*6458A>T) c.10701A>T (p.Pro3567=) c.10773A>T (p.Pro3591=) c.10698A>T (p.Pro3566=) c.10398A>T (p.Pro3466=) c.7662A>T (p.Pro2554=) c.6555A>T (p.Pro2185=) c.10581A>T (p.Pro3527=) c.6333A>T (p.Pro2111=) c.9561A>T (p.Pro3187=) | |
8 | g.99854091G>A | CA371785326 | VPS13B | c.10777G>A (p.Val3593Ile) n.10847G>A c.*6459G>A (n.*6459G>A) c.10702G>A (p.Val3568Ile) c.10774G>A (p.Val3592Ile) c.10699G>A (p.Val3567Ile) c.10399G>A (p.Val3467Ile) c.7663G>A (p.Val2555Ile) c.6556G>A (p.Val2186Ile) c.10582G>A (p.Val3528Ile) c.6334G>A (p.Val2112Ile) c.9562G>A (p.Val3188Ile) | gnomAD v4 |
8 | g.99854091G>C | CA371785327 | VPS13B | c.10777G>C (p.Val3593Leu) n.10847G>C c.*6459G>C (n.*6459G>C) c.10702G>C (p.Val3568Leu) c.10774G>C (p.Val3592Leu) c.10699G>C (p.Val3567Leu) c.10399G>C (p.Val3467Leu) c.7663G>C (p.Val2555Leu) c.6556G>C (p.Val2186Leu) c.10582G>C (p.Val3528Leu) c.6334G>C (p.Val2112Leu) c.9562G>C (p.Val3188Leu) | |
8 | g.99854091G>T | CA371785331 | VPS13B | c.10777G>T (p.Val3593Leu) n.10847G>T c.*6459G>T (n.*6459G>T) c.10702G>T (p.Val3568Leu) c.10774G>T (p.Val3592Leu) c.10699G>T (p.Val3567Leu) c.10399G>T (p.Val3467Leu) c.7663G>T (p.Val2555Leu) c.6556G>T (p.Val2186Leu) c.10582G>T (p.Val3528Leu) c.6334G>T (p.Val2112Leu) c.9562G>T (p.Val3188Leu) | |
8 | g.99854092T>A | CA371785349 | VPS13B | c.10778T>A (p.Val3593Glu) n.10848T>A c.*6460T>A (n.*6460T>A) c.10703T>A (p.Val3568Glu) c.10775T>A (p.Val3592Glu) c.10700T>A (p.Val3567Glu) c.10400T>A (p.Val3467Glu) c.7664T>A (p.Val2555Glu) c.6557T>A (p.Val2186Glu) c.10583T>A (p.Val3528Glu) c.6335T>A (p.Val2112Glu) c.9563T>A (p.Val3188Glu) | |
8 | g.99854092T>C | CA4825003 | VPS13B | c.10778T>C (p.Val3593Ala) n.10848T>C c.*6460T>C (n.*6460T>C) c.10703T>C (p.Val3568Ala) c.10775T>C (p.Val3592Ala) c.10700T>C (p.Val3567Ala) c.10400T>C (p.Val3467Ala) c.7664T>C (p.Val2555Ala) c.6557T>C (p.Val2186Ala) c.10583T>C (p.Val3528Ala) c.6335T>C (p.Val2112Ala) c.9563T>C (p.Val3188Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854092T>G | CA371785354 | VPS13B | c.10778T>G (p.Val3593Gly) n.10848T>G c.*6460T>G (n.*6460T>G) c.10703T>G (p.Val3568Gly) c.10775T>G (p.Val3592Gly) c.10700T>G (p.Val3567Gly) c.10400T>G (p.Val3467Gly) c.7664T>G (p.Val2555Gly) c.6557T>G (p.Val2186Gly) c.10583T>G (p.Val3528Gly) c.6335T>G (p.Val2112Gly) c.9563T>G (p.Val3188Gly) | |
8 | g.99854093A>C | CA462458321 | VPS13B | c.10779A>C (p.Val3593=) n.10849A>C c.*6461A>C (n.*6461A>C) c.10704A>C (p.Val3568=) c.10776A>C (p.Val3592=) c.10701A>C (p.Val3567=) c.10401A>C (p.Val3467=) c.7665A>C (p.Val2555=) c.6558A>C (p.Val2186=) c.10584A>C (p.Val3528=) c.6336A>C (p.Val2112=) c.9564A>C (p.Val3188=) | |
8 | g.99854093A>G | CA462458322 | VPS13B | c.10779A>G (p.Val3593=) n.10849A>G c.*6461A>G (n.*6461A>G) c.10704A>G (p.Val3568=) c.10776A>G (p.Val3592=) c.10701A>G (p.Val3567=) c.10401A>G (p.Val3467=) c.7665A>G (p.Val2555=) c.6558A>G (p.Val2186=) c.10584A>G (p.Val3528=) c.6336A>G (p.Val2112=) c.9564A>G (p.Val3188=) | |
8 | g.99854093A>T | CA462458323 | VPS13B | c.10779A>T (p.Val3593=) n.10849A>T c.*6461A>T (n.*6461A>T) c.10704A>T (p.Val3568=) c.10776A>T (p.Val3592=) c.10701A>T (p.Val3567=) c.10401A>T (p.Val3467=) c.7665A>T (p.Val2555=) c.6558A>T (p.Val2186=) c.10584A>T (p.Val3528=) c.6336A>T (p.Val2112=) c.9564A>T (p.Val3188=) | |
8 | g.99854094A>C | CA371785363 | VPS13B | c.10780A>C (p.Asn3594His) n.10850A>C c.*6462A>C (n.*6462A>C) c.10705A>C (p.Asn3569His) c.10777A>C (p.Asn3593His) c.10702A>C (p.Asn3568His) c.10402A>C (p.Asn3468His) c.7666A>C (p.Asn2556His) c.6559A>C (p.Asn2187His) c.10585A>C (p.Asn3529His) c.6337A>C (p.Asn2113His) c.9565A>C (p.Asn3189His) | |
8 | g.99854094A>G | CA371785366 | VPS13B | c.10780A>G (p.Asn3594Asp) n.10850A>G c.*6462A>G (n.*6462A>G) c.10705A>G (p.Asn3569Asp) c.10777A>G (p.Asn3593Asp) c.10702A>G (p.Asn3568Asp) c.10402A>G (p.Asn3468Asp) c.7666A>G (p.Asn2556Asp) c.6559A>G (p.Asn2187Asp) c.10585A>G (p.Asn3529Asp) c.6337A>G (p.Asn2113Asp) c.9565A>G (p.Asn3189Asp) | ClinVar dbSNP |
8 | g.99854094A>T | CA371785358 | VPS13B | c.10780A>T (p.Asn3594Tyr) n.10850A>T c.*6462A>T (n.*6462A>T) c.10705A>T (p.Asn3569Tyr) c.10777A>T (p.Asn3593Tyr) c.10702A>T (p.Asn3568Tyr) c.10402A>T (p.Asn3468Tyr) c.7666A>T (p.Asn2556Tyr) c.6559A>T (p.Asn2187Tyr) c.10585A>T (p.Asn3529Tyr) c.6337A>T (p.Asn2113Tyr) c.9565A>T (p.Asn3189Tyr) | |
8 | g.99854095A>C | CA371785387 | VPS13B | c.10781A>C (p.Asn3594Thr) n.10851A>C c.*6463A>C (n.*6463A>C) c.10706A>C (p.Asn3569Thr) c.10778A>C (p.Asn3593Thr) c.10703A>C (p.Asn3568Thr) c.10403A>C (p.Asn3468Thr) c.7667A>C (p.Asn2556Thr) c.6560A>C (p.Asn2187Thr) c.10586A>C (p.Asn3529Thr) c.6338A>C (p.Asn2113Thr) c.9566A>C (p.Asn3189Thr) | |
8 | g.99854095A>G | CA371785398 | VPS13B | c.10781A>G (p.Asn3594Ser) n.10851A>G c.*6463A>G (n.*6463A>G) c.10706A>G (p.Asn3569Ser) c.10778A>G (p.Asn3593Ser) c.10703A>G (p.Asn3568Ser) c.10403A>G (p.Asn3468Ser) c.7667A>G (p.Asn2556Ser) c.6560A>G (p.Asn2187Ser) c.10586A>G (p.Asn3529Ser) c.6338A>G (p.Asn2113Ser) c.9566A>G (p.Asn3189Ser) | |
8 | g.99854095A>T | CA371785399 | VPS13B | c.10781A>T (p.Asn3594Ile) n.10851A>T c.*6463A>T (n.*6463A>T) c.10706A>T (p.Asn3569Ile) c.10778A>T (p.Asn3593Ile) c.10703A>T (p.Asn3568Ile) c.10403A>T (p.Asn3468Ile) c.7667A>T (p.Asn2556Ile) c.6560A>T (p.Asn2187Ile) c.10586A>T (p.Asn3529Ile) c.6338A>T (p.Asn2113Ile) c.9566A>T (p.Asn3189Ile) | |
8 | g.99854096T>A | CA371785400 | VPS13B | c.10782T>A (p.Asn3594Lys) n.10852T>A c.*6464T>A (n.*6464T>A) c.10707T>A (p.Asn3569Lys) c.10779T>A (p.Asn3593Lys) c.10704T>A (p.Asn3568Lys) c.10404T>A (p.Asn3468Lys) c.7668T>A (p.Asn2556Lys) c.6561T>A (p.Asn2187Lys) c.10587T>A (p.Asn3529Lys) c.6339T>A (p.Asn2113Lys) c.9567T>A (p.Asn3189Lys) | |
8 | g.99854096T>C | CA462458324 | VPS13B | c.10782T>C (p.Asn3594=) n.10852T>C c.*6464T>C (n.*6464T>C) c.10707T>C (p.Asn3569=) c.10779T>C (p.Asn3593=) c.10704T>C (p.Asn3568=) c.10404T>C (p.Asn3468=) c.7668T>C (p.Asn2556=) c.6561T>C (p.Asn2187=) c.10587T>C (p.Asn3529=) c.6339T>C (p.Asn2113=) c.9567T>C (p.Asn3189=) | ClinVar |
8 | g.99854096T>G | CA371785401 | VPS13B | c.10782T>G (p.Asn3594Lys) n.10852T>G c.*6464T>G (n.*6464T>G) c.10707T>G (p.Asn3569Lys) c.10779T>G (p.Asn3593Lys) c.10704T>G (p.Asn3568Lys) c.10404T>G (p.Asn3468Lys) c.7668T>G (p.Asn2556Lys) c.6561T>G (p.Asn2187Lys) c.10587T>G (p.Asn3529Lys) c.6339T>G (p.Asn2113Lys) c.9567T>G (p.Asn3189Lys) | |
8 | g.99854097T>A | CA371785406 | VPS13B | c.10783T>A (p.Leu3595Met) n.10853T>A c.*6465T>A (n.*6465T>A) c.10708T>A (p.Leu3570Met) c.10780T>A (p.Leu3594Met) c.10705T>A (p.Leu3569Met) c.10405T>A (p.Leu3469Met) c.7669T>A (p.Leu2557Met) c.6562T>A (p.Leu2188Met) c.10588T>A (p.Leu3530Met) c.6340T>A (p.Leu2114Met) c.9568T>A (p.Leu3190Met) | |
8 | g.99854097T>C | CA462458325 | VPS13B | c.10783T>C (p.Leu3595=) n.10853T>C c.*6465T>C (n.*6465T>C) c.10708T>C (p.Leu3570=) c.10780T>C (p.Leu3594=) c.10705T>C (p.Leu3569=) c.10405T>C (p.Leu3469=) c.7669T>C (p.Leu2557=) c.6562T>C (p.Leu2188=) c.10588T>C (p.Leu3530=) c.6340T>C (p.Leu2114=) c.9568T>C (p.Leu3190=) | |
8 | g.99854097T>G | CA371785412 | VPS13B | c.10783T>G (p.Leu3595Val) n.10853T>G c.*6465T>G (n.*6465T>G) c.10708T>G (p.Leu3570Val) c.10780T>G (p.Leu3594Val) c.10705T>G (p.Leu3569Val) c.10405T>G (p.Leu3469Val) c.7669T>G (p.Leu2557Val) c.6562T>G (p.Leu2188Val) c.10588T>G (p.Leu3530Val) c.6340T>G (p.Leu2114Val) c.9568T>G (p.Leu3190Val) | |
8 | g.99854098T>A | CA371785415 | VPS13B | c.10784T>A (p.Leu3595Ter) n.10854T>A c.*6466T>A (n.*6466T>A) c.10709T>A (p.Leu3570Ter) c.10781T>A (p.Leu3594Ter) c.10706T>A (p.Leu3569Ter) c.10406T>A (p.Leu3469Ter) c.7670T>A (p.Leu2557Ter) c.6563T>A (p.Leu2188Ter) c.10589T>A (p.Leu3530Ter) c.6341T>A (p.Leu2114Ter) c.9569T>A (p.Leu3190Ter) | |
8 | g.99854098T>C | CA371785423 | VPS13B | c.10784T>C (p.Leu3595Ser) n.10854T>C c.*6466T>C (n.*6466T>C) c.10709T>C (p.Leu3570Ser) c.10781T>C (p.Leu3594Ser) c.10706T>C (p.Leu3569Ser) c.10406T>C (p.Leu3469Ser) c.7670T>C (p.Leu2557Ser) c.6563T>C (p.Leu2188Ser) c.10589T>C (p.Leu3530Ser) c.6341T>C (p.Leu2114Ser) c.9569T>C (p.Leu3190Ser) | |
8 | g.99854098T>G | CA371785424 | VPS13B | c.10784T>G (p.Leu3595Trp) n.10854T>G c.*6466T>G (n.*6466T>G) c.10709T>G (p.Leu3570Trp) c.10781T>G (p.Leu3594Trp) c.10706T>G (p.Leu3569Trp) c.10406T>G (p.Leu3469Trp) c.7670T>G (p.Leu2557Trp) c.6563T>G (p.Leu2188Trp) c.10589T>G (p.Leu3530Trp) c.6341T>G (p.Leu2114Trp) c.9569T>G (p.Leu3190Trp) | |
8 | g.99854099G>A | CA462458326 | VPS13B | c.10785G>A (p.Leu3595=) n.10855G>A c.*6467G>A (n.*6467G>A) c.10710G>A (p.Leu3570=) c.10782G>A (p.Leu3594=) c.10707G>A (p.Leu3569=) c.10407G>A (p.Leu3469=) c.7671G>A (p.Leu2557=) c.6564G>A (p.Leu2188=) c.10590G>A (p.Leu3530=) c.6342G>A (p.Leu2114=) c.9570G>A (p.Leu3190=) | |
8 | g.99854099G>C | CA371785425 | VPS13B | c.10785G>C (p.Leu3595Phe) n.10855G>C c.*6467G>C (n.*6467G>C) c.10710G>C (p.Leu3570Phe) c.10782G>C (p.Leu3594Phe) c.10707G>C (p.Leu3569Phe) c.10407G>C (p.Leu3469Phe) c.7671G>C (p.Leu2557Phe) c.6564G>C (p.Leu2188Phe) c.10590G>C (p.Leu3530Phe) c.6342G>C (p.Leu2114Phe) c.9570G>C (p.Leu3190Phe) | |
8 | g.99854099G>T | CA4825004 | VPS13B | c.10785G>T (p.Leu3595Phe) n.10855G>T c.*6467G>T (n.*6467G>T) c.10710G>T (p.Leu3570Phe) c.10782G>T (p.Leu3594Phe) c.10707G>T (p.Leu3569Phe) c.10407G>T (p.Leu3469Phe) c.7671G>T (p.Leu2557Phe) c.6564G>T (p.Leu2188Phe) c.10590G>T (p.Leu3530Phe) c.6342G>T (p.Leu2114Phe) c.9570G>T (p.Leu3190Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99854100C>A | CA371785434 | VPS13B | c.10786C>A (p.Leu3596Ile) n.10856C>A c.*6468C>A (n.*6468C>A) c.10711C>A (p.Leu3571Ile) c.10783C>A (p.Leu3595Ile) c.10708C>A (p.Leu3570Ile) c.10408C>A (p.Leu3470Ile) c.7672C>A (p.Leu2558Ile) c.6565C>A (p.Leu2189Ile) c.10591C>A (p.Leu3531Ile) c.6343C>A (p.Leu2115Ile) c.9571C>A (p.Leu3191Ile) | |
8 | g.99854100C>G | CA371785429 | VPS13B | c.10786C>G (p.Leu3596Val) n.10856C>G c.*6468C>G (n.*6468C>G) c.10711C>G (p.Leu3571Val) c.10783C>G (p.Leu3595Val) c.10708C>G (p.Leu3570Val) c.10408C>G (p.Leu3470Val) c.7672C>G (p.Leu2558Val) c.6565C>G (p.Leu2189Val) c.10591C>G (p.Leu3531Val) c.6343C>G (p.Leu2115Val) c.9571C>G (p.Leu3191Val) | |
8 | g.99854100C>T | CA371785432 | VPS13B | c.10786C>T (p.Leu3596Phe) n.10856C>T c.*6468C>T (n.*6468C>T) c.10711C>T (p.Leu3571Phe) c.10783C>T (p.Leu3595Phe) c.10708C>T (p.Leu3570Phe) c.10408C>T (p.Leu3470Phe) c.7672C>T (p.Leu2558Phe) c.6565C>T (p.Leu2189Phe) c.10591C>T (p.Leu3531Phe) c.6343C>T (p.Leu2115Phe) c.9571C>T (p.Leu3191Phe) | gnomAD v4 |
8 | g.99854101T>A | CA371785440 | VPS13B | c.10787T>A (p.Leu3596His) n.10857T>A c.*6469T>A (n.*6469T>A) c.10712T>A (p.Leu3571His) c.10784T>A (p.Leu3595His) c.10709T>A (p.Leu3570His) c.10409T>A (p.Leu3470His) c.7673T>A (p.Leu2558His) c.6566T>A (p.Leu2189His) c.10592T>A (p.Leu3531His) c.6344T>A (p.Leu2115His) c.9572T>A (p.Leu3191His) | |
8 | g.99854101T>C | CA371785444 | VPS13B | c.10787T>C (p.Leu3596Pro) n.10857T>C c.*6469T>C (n.*6469T>C) c.10712T>C (p.Leu3571Pro) c.10784T>C (p.Leu3595Pro) c.10709T>C (p.Leu3570Pro) c.10409T>C (p.Leu3470Pro) c.7673T>C (p.Leu2558Pro) c.6566T>C (p.Leu2189Pro) c.10592T>C (p.Leu3531Pro) c.6344T>C (p.Leu2115Pro) c.9572T>C (p.Leu3191Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99854101T>G | CA371785447 | VPS13B | c.10787T>G (p.Leu3596Arg) n.10857T>G c.*6469T>G (n.*6469T>G) c.10712T>G (p.Leu3571Arg) c.10784T>G (p.Leu3595Arg) c.10709T>G (p.Leu3570Arg) c.10409T>G (p.Leu3470Arg) c.7673T>G (p.Leu2558Arg) c.6566T>G (p.Leu2189Arg) c.10592T>G (p.Leu3531Arg) c.6344T>G (p.Leu2115Arg) c.9572T>G (p.Leu3191Arg) | |
8 | g.99854102C>A | CA462458327 | VPS13B | c.10788C>A (p.Leu3596=) n.10858C>A c.*6470C>A (n.*6470C>A) c.10713C>A (p.Leu3571=) c.10785C>A (p.Leu3595=) c.10710C>A (p.Leu3570=) c.10410C>A (p.Leu3470=) c.7674C>A (p.Leu2558=) c.6567C>A (p.Leu2189=) c.10593C>A (p.Leu3531=) c.6345C>A (p.Leu2115=) c.9573C>A (p.Leu3191=) | |
8 | g.99854102C>G | CA462458328 | VPS13B | c.10788C>G (p.Leu3596=) n.10858C>G c.*6470C>G (n.*6470C>G) c.10713C>G (p.Leu3571=) c.10785C>G (p.Leu3595=) c.10710C>G (p.Leu3570=) c.10410C>G (p.Leu3470=) c.7674C>G (p.Leu2558=) c.6567C>G (p.Leu2189=) c.10593C>G (p.Leu3531=) c.6345C>G (p.Leu2115=) c.9573C>G (p.Leu3191=) | |
8 | g.99854102C>T | CA4825005 | VPS13B | c.10788C>T (p.Leu3596=) n.10858C>T c.*6470C>T (n.*6470C>T) c.10713C>T (p.Leu3571=) c.10785C>T (p.Leu3595=) c.10710C>T (p.Leu3570=) c.10410C>T (p.Leu3470=) c.7674C>T (p.Leu2558=) c.6567C>T (p.Leu2189=) c.10593C>T (p.Leu3531=) c.6345C>T (p.Leu2115=) c.9573C>T (p.Leu3191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99854103G>A | CA4825006 | VPS13B | c.10789G>A (p.Val3597Ile) n.10859G>A c.*6471G>A (n.*6471G>A) c.10714G>A (p.Val3572Ile) c.10786G>A (p.Val3596Ile) c.10711G>A (p.Val3571Ile) c.10411G>A (p.Val3471Ile) c.7675G>A (p.Val2559Ile) c.6568G>A (p.Val2190Ile) c.10594G>A (p.Val3532Ile) c.6346G>A (p.Val2116Ile) c.9574G>A (p.Val3192Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854103G>C | CA371785457 | VPS13B | c.10789G>C (p.Val3597Leu) n.10859G>C c.*6471G>C (n.*6471G>C) c.10714G>C (p.Val3572Leu) c.10786G>C (p.Val3596Leu) c.10711G>C (p.Val3571Leu) c.10411G>C (p.Val3471Leu) c.7675G>C (p.Val2559Leu) c.6568G>C (p.Val2190Leu) c.10594G>C (p.Val3532Leu) c.6346G>C (p.Val2116Leu) c.9574G>C (p.Val3192Leu) | |
8 | g.99854103G>T | CA4825007 | VPS13B | c.10789G>T (p.Val3597Phe) n.10859G>T c.*6471G>T (n.*6471G>T) c.10714G>T (p.Val3572Phe) c.10786G>T (p.Val3596Phe) c.10711G>T (p.Val3571Phe) c.10411G>T (p.Val3471Phe) c.7675G>T (p.Val2559Phe) c.6568G>T (p.Val2190Phe) c.10594G>T (p.Val3532Phe) c.6346G>T (p.Val2116Phe) c.9574G>T (p.Val3192Phe) | dbSNP ExAC gnomAD v2 |
8 | g.99854104T>A | CA371785461 | VPS13B | c.10790T>A (p.Val3597Asp) n.10860T>A c.*6472T>A (n.*6472T>A) c.10715T>A (p.Val3572Asp) c.10787T>A (p.Val3596Asp) c.10712T>A (p.Val3571Asp) c.10412T>A (p.Val3471Asp) c.7676T>A (p.Val2559Asp) c.6569T>A (p.Val2190Asp) c.10595T>A (p.Val3532Asp) c.6347T>A (p.Val2116Asp) c.9575T>A (p.Val3192Asp) | |
8 | g.99854104T>C | CA371785464 | VPS13B | c.10790T>C (p.Val3597Ala) n.10860T>C c.*6472T>C (n.*6472T>C) c.10715T>C (p.Val3572Ala) c.10787T>C (p.Val3596Ala) c.10712T>C (p.Val3571Ala) c.10412T>C (p.Val3471Ala) c.7676T>C (p.Val2559Ala) c.6569T>C (p.Val2190Ala) c.10595T>C (p.Val3532Ala) c.6347T>C (p.Val2116Ala) c.9575T>C (p.Val3192Ala) | |
8 | g.99854104T>G | CA371785469 | VPS13B | c.10790T>G (p.Val3597Gly) n.10860T>G c.*6472T>G (n.*6472T>G) c.10715T>G (p.Val3572Gly) c.10787T>G (p.Val3596Gly) c.10712T>G (p.Val3571Gly) c.10412T>G (p.Val3471Gly) c.7676T>G (p.Val2559Gly) c.6569T>G (p.Val2190Gly) c.10595T>G (p.Val3532Gly) c.6347T>G (p.Val2116Gly) c.9575T>G (p.Val3192Gly) | |
8 | g.99854105C>A | CA462458329 | VPS13B | c.10791C>A (p.Val3597=) n.10861C>A c.*6473C>A (n.*6473C>A) c.10716C>A (p.Val3572=) c.10788C>A (p.Val3596=) c.10713C>A (p.Val3571=) c.10413C>A (p.Val3471=) c.7677C>A (p.Val2559=) c.6570C>A (p.Val2190=) c.10596C>A (p.Val3532=) c.6348C>A (p.Val2116=) c.9576C>A (p.Val3192=) | |
8 | g.99854105C>G | CA462458331 | VPS13B | c.10791C>G (p.Val3597=) n.10861C>G c.*6473C>G (n.*6473C>G) c.10716C>G (p.Val3572=) c.10788C>G (p.Val3596=) c.10713C>G (p.Val3571=) c.10413C>G (p.Val3471=) c.7677C>G (p.Val2559=) c.6570C>G (p.Val2190=) c.10596C>G (p.Val3532=) c.6348C>G (p.Val2116=) c.9576C>G (p.Val3192=) | |
8 | g.99854105C>T | CA462458330 | VPS13B | c.10791C>T (p.Val3597=) n.10861C>T c.*6473C>T (n.*6473C>T) c.10716C>T (p.Val3572=) c.10788C>T (p.Val3596=) c.10713C>T (p.Val3571=) c.10413C>T (p.Val3471=) c.7677C>T (p.Val2559=) c.6570C>T (p.Val2190=) c.10596C>T (p.Val3532=) c.6348C>T (p.Val2116=) c.9576C>T (p.Val3192=) | COSMIC COSMIC |
8 | g.99854106A>C | CA371785473 | VPS13B | c.10792A>C (p.Ser3598Arg) n.10862A>C c.*6474A>C (n.*6474A>C) c.10717A>C (p.Ser3573Arg) c.10789A>C (p.Ser3597Arg) c.10714A>C (p.Ser3572Arg) c.10414A>C (p.Ser3472Arg) c.7678A>C (p.Ser2560Arg) c.6571A>C (p.Ser2191Arg) c.10597A>C (p.Ser3533Arg) c.6349A>C (p.Ser2117Arg) c.9577A>C (p.Ser3193Arg) | |
8 | g.99854106A>G | CA371785475 | VPS13B | c.10792A>G (p.Ser3598Gly) n.10862A>G c.*6474A>G (n.*6474A>G) c.10717A>G (p.Ser3573Gly) c.10789A>G (p.Ser3597Gly) c.10714A>G (p.Ser3572Gly) c.10414A>G (p.Ser3472Gly) c.7678A>G (p.Ser2560Gly) c.6571A>G (p.Ser2191Gly) c.10597A>G (p.Ser3533Gly) c.6349A>G (p.Ser2117Gly) c.9577A>G (p.Ser3193Gly) | gnomAD v4 |
8 | g.99854106A>T | CA371785477 | VPS13B | c.10792A>T (p.Ser3598Cys) n.10862A>T c.*6474A>T (n.*6474A>T) c.10717A>T (p.Ser3573Cys) c.10789A>T (p.Ser3597Cys) c.10714A>T (p.Ser3572Cys) c.10414A>T (p.Ser3472Cys) c.7678A>T (p.Ser2560Cys) c.6571A>T (p.Ser2191Cys) c.10597A>T (p.Ser3533Cys) c.6349A>T (p.Ser2117Cys) c.9577A>T (p.Ser3193Cys) | |
8 | g.99854107G>A | CA371785485 | VPS13B | c.10793G>A (p.Ser3598Asn) n.10863G>A c.*6475G>A (n.*6475G>A) c.10718G>A (p.Ser3573Asn) c.10790G>A (p.Ser3597Asn) c.10715G>A (p.Ser3572Asn) c.10415G>A (p.Ser3472Asn) c.7679G>A (p.Ser2560Asn) c.6572G>A (p.Ser2191Asn) c.10598G>A (p.Ser3533Asn) c.6350G>A (p.Ser2117Asn) c.9578G>A (p.Ser3193Asn) | |
8 | g.99854107G>C | CA371785487 | VPS13B | c.10793G>C (p.Ser3598Thr) n.10863G>C c.*6475G>C (n.*6475G>C) c.10718G>C (p.Ser3573Thr) c.10790G>C (p.Ser3597Thr) c.10715G>C (p.Ser3572Thr) c.10415G>C (p.Ser3472Thr) c.7679G>C (p.Ser2560Thr) c.6572G>C (p.Ser2191Thr) c.10598G>C (p.Ser3533Thr) c.6350G>C (p.Ser2117Thr) c.9578G>C (p.Ser3193Thr) | |
8 | g.99854107G>T | CA371785483 | VPS13B | c.10793G>T (p.Ser3598Ile) n.10863G>T c.*6475G>T (n.*6475G>T) c.10718G>T (p.Ser3573Ile) c.10790G>T (p.Ser3597Ile) c.10715G>T (p.Ser3572Ile) c.10415G>T (p.Ser3472Ile) c.7679G>T (p.Ser2560Ile) c.6572G>T (p.Ser2191Ile) c.10598G>T (p.Ser3533Ile) c.6350G>T (p.Ser2117Ile) c.9578G>T (p.Ser3193Ile) | |
8 | g.99854108C>A | CA371785489 | VPS13B | c.10794C>A (p.Ser3598Arg) n.10864C>A c.*6476C>A (n.*6476C>A) c.10719C>A (p.Ser3573Arg) c.10791C>A (p.Ser3597Arg) c.10716C>A (p.Ser3572Arg) c.10416C>A (p.Ser3472Arg) c.7680C>A (p.Ser2560Arg) c.6573C>A (p.Ser2191Arg) c.10599C>A (p.Ser3533Arg) c.6351C>A (p.Ser2117Arg) c.9579C>A (p.Ser3193Arg) | |
8 | g.99854108C>G | CA371785488 | VPS13B | c.10794C>G (p.Ser3598Arg) n.10864C>G c.*6476C>G (n.*6476C>G) c.10719C>G (p.Ser3573Arg) c.10791C>G (p.Ser3597Arg) c.10716C>G (p.Ser3572Arg) c.10416C>G (p.Ser3472Arg) c.7680C>G (p.Ser2560Arg) c.6573C>G (p.Ser2191Arg) c.10599C>G (p.Ser3533Arg) c.6351C>G (p.Ser2117Arg) c.9579C>G (p.Ser3193Arg) | gnomAD v4 |
8 | g.99854108C>T | CA182314767 | VPS13B | c.10794C>T (p.Ser3598=) n.10864C>T c.*6476C>T (n.*6476C>T) c.10719C>T (p.Ser3573=) c.10791C>T (p.Ser3597=) c.10716C>T (p.Ser3572=) c.10416C>T (p.Ser3472=) c.7680C>T (p.Ser2560=) c.6573C>T (p.Ser2191=) c.10599C>T (p.Ser3533=) c.6351C>T (p.Ser2117=) c.9579C>T (p.Ser3193=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854109A>C | CA371785495 | VPS13B | c.10795A>C (p.Ile3599Leu) n.10865A>C c.*6477A>C (n.*6477A>C) c.10720A>C (p.Ile3574Leu) c.10792A>C (p.Ile3598Leu) c.10717A>C (p.Ile3573Leu) c.10417A>C (p.Ile3473Leu) c.7681A>C (p.Ile2561Leu) c.6574A>C (p.Ile2192Leu) c.10600A>C (p.Ile3534Leu) c.6352A>C (p.Ile2118Leu) c.9580A>C (p.Ile3194Leu) | ClinVar |
8 | g.99854109A>G | CA371785492 | VPS13B | c.10795A>G (p.Ile3599Val) n.10865A>G c.*6477A>G (n.*6477A>G) c.10720A>G (p.Ile3574Val) c.10792A>G (p.Ile3598Val) c.10717A>G (p.Ile3573Val) c.10417A>G (p.Ile3473Val) c.7681A>G (p.Ile2561Val) c.6574A>G (p.Ile2192Val) c.10600A>G (p.Ile3534Val) c.6352A>G (p.Ile2118Val) c.9580A>G (p.Ile3194Val) | dbSNP |
8 | g.99854109A>T | CA371785494 | VPS13B | c.10795A>T (p.Ile3599Phe) n.10865A>T c.*6477A>T (n.*6477A>T) c.10720A>T (p.Ile3574Phe) c.10792A>T (p.Ile3598Phe) c.10717A>T (p.Ile3573Phe) c.10417A>T (p.Ile3473Phe) c.7681A>T (p.Ile2561Phe) c.6574A>T (p.Ile2192Phe) c.10600A>T (p.Ile3534Phe) c.6352A>T (p.Ile2118Phe) c.9580A>T (p.Ile3194Phe) | |
8 | g.99854110T>A | CA371785500 | VPS13B | c.10796T>A (p.Ile3599Asn) n.10866T>A c.*6478T>A (n.*6478T>A) c.10721T>A (p.Ile3574Asn) c.10793T>A (p.Ile3598Asn) c.10718T>A (p.Ile3573Asn) c.10418T>A (p.Ile3473Asn) c.7682T>A (p.Ile2561Asn) c.6575T>A (p.Ile2192Asn) c.10601T>A (p.Ile3534Asn) c.6353T>A (p.Ile2118Asn) c.9581T>A (p.Ile3194Asn) | |
8 | g.99854110T>C | CA371785509 | VPS13B | c.10796T>C (p.Ile3599Thr) n.10866T>C c.*6478T>C (n.*6478T>C) c.10721T>C (p.Ile3574Thr) c.10793T>C (p.Ile3598Thr) c.10718T>C (p.Ile3573Thr) c.10418T>C (p.Ile3473Thr) c.7682T>C (p.Ile2561Thr) c.6575T>C (p.Ile2192Thr) c.10601T>C (p.Ile3534Thr) c.6353T>C (p.Ile2118Thr) c.9581T>C (p.Ile3194Thr) | |
8 | g.99854110T>G | CA371785513 | VPS13B | c.10796T>G (p.Ile3599Ser) n.10866T>G c.*6478T>G (n.*6478T>G) c.10721T>G (p.Ile3574Ser) c.10793T>G (p.Ile3598Ser) c.10718T>G (p.Ile3573Ser) c.10418T>G (p.Ile3473Ser) c.7682T>G (p.Ile2561Ser) c.6575T>G (p.Ile2192Ser) c.10601T>G (p.Ile3534Ser) c.6353T>G (p.Ile2118Ser) c.9581T>G (p.Ile3194Ser) | |
8 | g.99854111C>A | CA462458332 | VPS13B | c.10797C>A (p.Ile3599=) n.10867C>A c.*6479C>A (n.*6479C>A) c.10722C>A (p.Ile3574=) c.10794C>A (p.Ile3598=) c.10719C>A (p.Ile3573=) c.10419C>A (p.Ile3473=) c.7683C>A (p.Ile2561=) c.6576C>A (p.Ile2192=) c.10602C>A (p.Ile3534=) c.6354C>A (p.Ile2118=) c.9582C>A (p.Ile3194=) | |
8 | g.99854111C>G | CA371785517 | VPS13B | c.10797C>G (p.Ile3599Met) n.10867C>G c.*6479C>G (n.*6479C>G) c.10722C>G (p.Ile3574Met) c.10794C>G (p.Ile3598Met) c.10719C>G (p.Ile3573Met) c.10419C>G (p.Ile3473Met) c.7683C>G (p.Ile2561Met) c.6576C>G (p.Ile2192Met) c.10602C>G (p.Ile3534Met) c.6354C>G (p.Ile2118Met) c.9582C>G (p.Ile3194Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99854111C>T | CA462458333 | VPS13B | c.10797C>T (p.Ile3599=) n.10867C>T c.*6479C>T (n.*6479C>T) c.10722C>T (p.Ile3574=) c.10794C>T (p.Ile3598=) c.10719C>T (p.Ile3573=) c.10419C>T (p.Ile3473=) c.7683C>T (p.Ile2561=) c.6576C>T (p.Ile2192=) c.10602C>T (p.Ile3534=) c.6354C>T (p.Ile2118=) c.9582C>T (p.Ile3194=) | |
8 | g.99854112C>A | CA371785521 | VPS13B | c.10798C>A (p.His3600Asn) n.10868C>A c.*6480C>A (n.*6480C>A) c.10723C>A (p.His3575Asn) c.10795C>A (p.His3599Asn) c.10720C>A (p.His3574Asn) c.10420C>A (p.His3474Asn) c.7684C>A (p.His2562Asn) c.6577C>A (p.His2193Asn) c.10603C>A (p.His3535Asn) c.6355C>A (p.His2119Asn) c.9583C>A (p.His3195Asn) | |
8 | g.99854112C>G | CA371785525 | VPS13B | c.10798C>G (p.His3600Asp) n.10868C>G c.*6480C>G (n.*6480C>G) c.10723C>G (p.His3575Asp) c.10795C>G (p.His3599Asp) c.10720C>G (p.His3574Asp) c.10420C>G (p.His3474Asp) c.7684C>G (p.His2562Asp) c.6577C>G (p.His2193Asp) c.10603C>G (p.His3535Asp) c.6355C>G (p.His2119Asp) c.9583C>G (p.His3195Asp) | |
8 | g.99854112C>T | CA371785528 | VPS13B | c.10798C>T (p.His3600Tyr) n.10868C>T c.*6480C>T (n.*6480C>T) c.10723C>T (p.His3575Tyr) c.10795C>T (p.His3599Tyr) c.10720C>T (p.His3574Tyr) c.10420C>T (p.His3474Tyr) c.7684C>T (p.His2562Tyr) c.6577C>T (p.His2193Tyr) c.10603C>T (p.His3535Tyr) c.6355C>T (p.His2119Tyr) c.9583C>T (p.His3195Tyr) | |
8 | g.99854113A>C | CA371785551 | VPS13B | c.10799A>C (p.His3600Pro) n.10869A>C c.*6481A>C (n.*6481A>C) c.10724A>C (p.His3575Pro) c.10796A>C (p.His3599Pro) c.10721A>C (p.His3574Pro) c.10421A>C (p.His3474Pro) c.7685A>C (p.His2562Pro) c.6578A>C (p.His2193Pro) c.10604A>C (p.His3535Pro) c.6356A>C (p.His2119Pro) c.9584A>C (p.His3195Pro) | |
8 | g.99854113A>G | CA371785555 | VPS13B | c.10799A>G (p.His3600Arg) n.10869A>G c.*6481A>G (n.*6481A>G) c.10724A>G (p.His3575Arg) c.10796A>G (p.His3599Arg) c.10721A>G (p.His3574Arg) c.10421A>G (p.His3474Arg) c.7685A>G (p.His2562Arg) c.6578A>G (p.His2193Arg) c.10604A>G (p.His3535Arg) c.6356A>G (p.His2119Arg) c.9584A>G (p.His3195Arg) | |
8 | g.99854113A>T | CA371785560 | VPS13B | c.10799A>T (p.His3600Leu) n.10869A>T c.*6481A>T (n.*6481A>T) c.10724A>T (p.His3575Leu) c.10796A>T (p.His3599Leu) c.10721A>T (p.His3574Leu) c.10421A>T (p.His3474Leu) c.7685A>T (p.His2562Leu) c.6578A>T (p.His2193Leu) c.10604A>T (p.His3535Leu) c.6356A>T (p.His2119Leu) c.9584A>T (p.His3195Leu) | |
8 | g.99854114C>A | CA371785574 | VPS13B | c.10800C>A (p.His3600Gln) n.10870C>A c.*6482C>A (n.*6482C>A) c.10725C>A (p.His3575Gln) c.10797C>A (p.His3599Gln) c.10722C>A (p.His3574Gln) c.10422C>A (p.His3474Gln) c.7686C>A (p.His2562Gln) c.6579C>A (p.His2193Gln) c.10605C>A (p.His3535Gln) c.6357C>A (p.His2119Gln) c.9585C>A (p.His3195Gln) | |
8 | g.99854114C>G | CA371785567 | VPS13B | c.10800C>G (p.His3600Gln) n.10870C>G c.*6482C>G (n.*6482C>G) c.10725C>G (p.His3575Gln) c.10797C>G (p.His3599Gln) c.10722C>G (p.His3574Gln) c.10422C>G (p.His3474Gln) c.7686C>G (p.His2562Gln) c.6579C>G (p.His2193Gln) c.10605C>G (p.His3535Gln) c.6357C>G (p.His2119Gln) c.9585C>G (p.His3195Gln) | |
8 | g.99854114C>T | CA4825008 | VPS13B | c.10800C>T (p.His3600=) n.10870C>T c.*6482C>T (n.*6482C>T) c.10725C>T (p.His3575=) c.10797C>T (p.His3599=) c.10722C>T (p.His3574=) c.10422C>T (p.His3474=) c.7686C>T (p.His2562=) c.6579C>T (p.His2193=) c.10605C>T (p.His3535=) c.6357C>T (p.His2119=) c.9585C>T (p.His3195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99854115G>A | CA4825009 | VPS13B | c.10801G>A (p.Ala3601Thr) n.10871G>A c.*6483G>A (n.*6483G>A) c.10726G>A (p.Ala3576Thr) c.10798G>A (p.Ala3600Thr) c.10723G>A (p.Ala3575Thr) c.10423G>A (p.Ala3475Thr) c.7687G>A (p.Ala2563Thr) c.6580G>A (p.Ala2194Thr) c.10606G>A (p.Ala3536Thr) c.6358G>A (p.Ala2120Thr) c.9586G>A (p.Ala3196Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99854115G>C | CA371785588 | VPS13B | c.10801G>C (p.Ala3601Pro) n.10871G>C c.*6483G>C (n.*6483G>C) c.10726G>C (p.Ala3576Pro) c.10798G>C (p.Ala3600Pro) c.10723G>C (p.Ala3575Pro) c.10423G>C (p.Ala3475Pro) c.7687G>C (p.Ala2563Pro) c.6580G>C (p.Ala2194Pro) c.10606G>C (p.Ala3536Pro) c.6358G>C (p.Ala2120Pro) c.9586G>C (p.Ala3196Pro) | |
8 | g.99854115G>T | CA371785589 | VPS13B | c.10801G>T (p.Ala3601Ser) n.10871G>T c.*6483G>T (n.*6483G>T) c.10726G>T (p.Ala3576Ser) c.10798G>T (p.Ala3600Ser) c.10723G>T (p.Ala3575Ser) c.10423G>T (p.Ala3475Ser) c.7687G>T (p.Ala2563Ser) c.6580G>T (p.Ala2194Ser) c.10606G>T (p.Ala3536Ser) c.6358G>T (p.Ala2120Ser) c.9586G>T (p.Ala3196Ser) | gnomAD v4 |
8 | g.99854116C>A | CA371785604 | VPS13B | c.10802C>A (p.Ala3601Asp) n.10872C>A c.*6484C>A (n.*6484C>A) c.10727C>A (p.Ala3576Asp) c.10799C>A (p.Ala3600Asp) c.10724C>A (p.Ala3575Asp) c.10424C>A (p.Ala3475Asp) c.7688C>A (p.Ala2563Asp) c.6581C>A (p.Ala2194Asp) c.10607C>A (p.Ala3536Asp) c.6359C>A (p.Ala2120Asp) c.9587C>A (p.Ala3196Asp) | |
8 | g.99854116C>G | CA371785610 | VPS13B | c.10802C>G (p.Ala3601Gly) n.10872C>G c.*6484C>G (n.*6484C>G) c.10727C>G (p.Ala3576Gly) c.10799C>G (p.Ala3600Gly) c.10724C>G (p.Ala3575Gly) c.10424C>G (p.Ala3475Gly) c.7688C>G (p.Ala2563Gly) c.6581C>G (p.Ala2194Gly) c.10607C>G (p.Ala3536Gly) c.6359C>G (p.Ala2120Gly) c.9587C>G (p.Ala3196Gly) | gnomAD v4 |
8 | g.99854116C>T | CA371785613 | VPS13B | c.10802C>T (p.Ala3601Val) n.10872C>T c.*6484C>T (n.*6484C>T) c.10727C>T (p.Ala3576Val) c.10799C>T (p.Ala3600Val) c.10724C>T (p.Ala3575Val) c.10424C>T (p.Ala3475Val) c.7688C>T (p.Ala2563Val) c.6581C>T (p.Ala2194Val) c.10607C>T (p.Ala3536Val) c.6359C>T (p.Ala2120Val) c.9587C>T (p.Ala3196Val) | dbSNP |
8 | g.99854117T>A | CA462458334 | VPS13B | c.10803T>A (p.Ala3601=) n.10873T>A c.*6485T>A (n.*6485T>A) c.10728T>A (p.Ala3576=) c.10800T>A (p.Ala3600=) c.10725T>A (p.Ala3575=) c.10425T>A (p.Ala3475=) c.7689T>A (p.Ala2563=) c.6582T>A (p.Ala2194=) c.10608T>A (p.Ala3536=) c.6360T>A (p.Ala2120=) c.9588T>A (p.Ala3196=) | |
8 | g.99854117T>C | CA462458335 | VPS13B | c.10803T>C (p.Ala3601=) n.10873T>C c.*6485T>C (n.*6485T>C) c.10728T>C (p.Ala3576=) c.10800T>C (p.Ala3600=) c.10725T>C (p.Ala3575=) c.10425T>C (p.Ala3475=) c.7689T>C (p.Ala2563=) c.6582T>C (p.Ala2194=) c.10608T>C (p.Ala3536=) c.6360T>C (p.Ala2120=) c.9588T>C (p.Ala3196=) | ClinVar gnomAD v4 |
8 | g.99854117T>G | CA462458336 | VPS13B | c.10803T>G (p.Ala3601=) n.10873T>G c.*6485T>G (n.*6485T>G) c.10728T>G (p.Ala3576=) c.10800T>G (p.Ala3600=) c.10725T>G (p.Ala3575=) c.10425T>G (p.Ala3475=) c.7689T>G (p.Ala2563=) c.6582T>G (p.Ala2194=) c.10608T>G (p.Ala3536=) c.6360T>G (p.Ala2120=) c.9588T>G (p.Ala3196=) | |
8 | g.99854118T>A | CA371785619 | VPS13B | c.10804T>A (p.Ser3602Thr) n.10874T>A c.*6486T>A (n.*6486T>A) c.10729T>A (p.Ser3577Thr) c.10801T>A (p.Ser3601Thr) c.10726T>A (p.Ser3576Thr) c.10426T>A (p.Ser3476Thr) c.7690T>A (p.Ser2564Thr) c.6583T>A (p.Ser2195Thr) c.10609T>A (p.Ser3537Thr) c.6361T>A (p.Ser2121Thr) c.9589T>A (p.Ser3197Thr) | |
8 | g.99854118T>C | CA371785620 | VPS13B | c.10804T>C (p.Ser3602Pro) n.10874T>C c.*6486T>C (n.*6486T>C) c.10729T>C (p.Ser3577Pro) c.10801T>C (p.Ser3601Pro) c.10726T>C (p.Ser3576Pro) c.10426T>C (p.Ser3476Pro) c.7690T>C (p.Ser2564Pro) c.6583T>C (p.Ser2195Pro) c.10609T>C (p.Ser3537Pro) c.6361T>C (p.Ser2121Pro) c.9589T>C (p.Ser3197Pro) | |
8 | g.99854118T>G | CA371785624 | VPS13B | c.10804T>G (p.Ser3602Ala) n.10874T>G c.*6486T>G (n.*6486T>G) c.10729T>G (p.Ser3577Ala) c.10801T>G (p.Ser3601Ala) c.10726T>G (p.Ser3576Ala) c.10426T>G (p.Ser3476Ala) c.7690T>G (p.Ser2564Ala) c.6583T>G (p.Ser2195Ala) c.10609T>G (p.Ser3537Ala) c.6361T>G (p.Ser2121Ala) c.9589T>G (p.Ser3197Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99854119C>A | CA371785628 | VPS13B | c.10805C>A (p.Ser3602Tyr) n.10875C>A c.*6487C>A (n.*6487C>A) c.10730C>A (p.Ser3577Tyr) c.10802C>A (p.Ser3601Tyr) c.10727C>A (p.Ser3576Tyr) c.10427C>A (p.Ser3476Tyr) c.7691C>A (p.Ser2564Tyr) c.6584C>A (p.Ser2195Tyr) c.10610C>A (p.Ser3537Tyr) c.6362C>A (p.Ser2121Tyr) c.9590C>A (p.Ser3197Tyr) | |
8 | g.99854119C>G | CA371785631 | VPS13B | c.10805C>G (p.Ser3602Cys) n.10875C>G c.*6487C>G (n.*6487C>G) c.10730C>G (p.Ser3577Cys) c.10802C>G (p.Ser3601Cys) c.10727C>G (p.Ser3576Cys) c.10427C>G (p.Ser3476Cys) c.7691C>G (p.Ser2564Cys) c.6584C>G (p.Ser2195Cys) c.10610C>G (p.Ser3537Cys) c.6362C>G (p.Ser2121Cys) c.9590C>G (p.Ser3197Cys) | |
8 | g.99854119C>T | CA371785634 | VPS13B | c.10805C>T (p.Ser3602Phe) n.10875C>T c.*6487C>T (n.*6487C>T) c.10730C>T (p.Ser3577Phe) c.10802C>T (p.Ser3601Phe) c.10727C>T (p.Ser3576Phe) c.10427C>T (p.Ser3476Phe) c.7691C>T (p.Ser2564Phe) c.6584C>T (p.Ser2195Phe) c.10610C>T (p.Ser3537Phe) c.6362C>T (p.Ser2121Phe) c.9590C>T (p.Ser3197Phe) | |
8 | g.99854120C>A | CA462458337 | VPS13B | c.10806C>A (p.Ser3602=) n.10876C>A c.*6488C>A (n.*6488C>A) c.10731C>A (p.Ser3577=) c.10803C>A (p.Ser3601=) c.10728C>A (p.Ser3576=) c.10428C>A (p.Ser3476=) c.7692C>A (p.Ser2564=) c.6585C>A (p.Ser2195=) c.10611C>A (p.Ser3537=) c.6363C>A (p.Ser2121=) c.9591C>A (p.Ser3197=) | |
8 | g.99854120C>G | CA462458338 | VPS13B | c.10806C>G (p.Ser3602=) n.10876C>G c.*6488C>G (n.*6488C>G) c.10731C>G (p.Ser3577=) c.10803C>G (p.Ser3601=) c.10728C>G (p.Ser3576=) c.10428C>G (p.Ser3476=) c.7692C>G (p.Ser2564=) c.6585C>G (p.Ser2195=) c.10611C>G (p.Ser3537=) c.6363C>G (p.Ser2121=) c.9591C>G (p.Ser3197=) | gnomAD v4 |
8 | g.99854120C>T | CA462458339 | VPS13B | c.10806C>T (p.Ser3602=) n.10876C>T c.*6488C>T (n.*6488C>T) c.10731C>T (p.Ser3577=) c.10803C>T (p.Ser3601=) c.10728C>T (p.Ser3576=) c.10428C>T (p.Ser3476=) c.7692C>T (p.Ser2564=) c.6585C>T (p.Ser2195=) c.10611C>T (p.Ser3537=) c.6363C>T (p.Ser2121=) c.9591C>T (p.Ser3197=) | gnomAD v4 |
8 | g.99854121C>A | CA371785642 | VPS13B | c.10807C>A (p.Leu3603Ile) n.10877C>A c.*6489C>A (n.*6489C>A) c.10732C>A (p.Leu3578Ile) c.10804C>A (p.Leu3602Ile) c.10729C>A (p.Leu3577Ile) c.10429C>A (p.Leu3477Ile) c.7693C>A (p.Leu2565Ile) c.6586C>A (p.Leu2196Ile) c.10612C>A (p.Leu3538Ile) c.6364C>A (p.Leu2122Ile) c.9592C>A (p.Leu3198Ile) | |
8 | g.99854121C>G | CA371785641 | VPS13B | c.10807C>G (p.Leu3603Val) n.10877C>G c.*6489C>G (n.*6489C>G) c.10732C>G (p.Leu3578Val) c.10804C>G (p.Leu3602Val) c.10729C>G (p.Leu3577Val) c.10429C>G (p.Leu3477Val) c.7693C>G (p.Leu2565Val) c.6586C>G (p.Leu2196Val) c.10612C>G (p.Leu3538Val) c.6364C>G (p.Leu2122Val) c.9592C>G (p.Leu3198Val) | |
8 | g.99854121C>T | CA371785637 | VPS13B | c.10807C>T (p.Leu3603Phe) n.10877C>T c.*6489C>T (n.*6489C>T) c.10732C>T (p.Leu3578Phe) c.10804C>T (p.Leu3602Phe) c.10729C>T (p.Leu3577Phe) c.10429C>T (p.Leu3477Phe) c.7693C>T (p.Leu2565Phe) c.6586C>T (p.Leu2196Phe) c.10612C>T (p.Leu3538Phe) c.6364C>T (p.Leu2122Phe) c.9592C>T (p.Leu3198Phe) | |
8 | g.99854122T>A | CA371785648 | VPS13B | c.10808T>A (p.Leu3603His) n.10878T>A c.*6490T>A (n.*6490T>A) c.10733T>A (p.Leu3578His) c.10805T>A (p.Leu3602His) c.10730T>A (p.Leu3577His) c.10430T>A (p.Leu3477His) c.7694T>A (p.Leu2565His) c.6587T>A (p.Leu2196His) c.10613T>A (p.Leu3538His) c.6365T>A (p.Leu2122His) c.9593T>A (p.Leu3198His) | |
8 | g.99854122T>C | CA371785654 | VPS13B | c.10808T>C (p.Leu3603Pro) n.10878T>C c.*6490T>C (n.*6490T>C) c.10733T>C (p.Leu3578Pro) c.10805T>C (p.Leu3602Pro) c.10730T>C (p.Leu3577Pro) c.10430T>C (p.Leu3477Pro) c.7694T>C (p.Leu2565Pro) c.6587T>C (p.Leu2196Pro) c.10613T>C (p.Leu3538Pro) c.6365T>C (p.Leu2122Pro) c.9593T>C (p.Leu3198Pro) | |
8 | g.99854122T>G | CA371785656 | VPS13B | c.10808T>G (p.Leu3603Arg) n.10878T>G c.*6490T>G (n.*6490T>G) c.10733T>G (p.Leu3578Arg) c.10805T>G (p.Leu3602Arg) c.10730T>G (p.Leu3577Arg) c.10430T>G (p.Leu3477Arg) c.7694T>G (p.Leu2565Arg) c.6587T>G (p.Leu2196Arg) c.10613T>G (p.Leu3538Arg) c.6365T>G (p.Leu2122Arg) c.9593T>G (p.Leu3198Arg) | |
8 | g.99854123C>A | CA462458340 | VPS13B | c.10809C>A (p.Leu3603=) n.10879C>A c.*6491C>A (n.*6491C>A) c.10734C>A (p.Leu3578=) c.10806C>A (p.Leu3602=) c.10731C>A (p.Leu3577=) c.10431C>A (p.Leu3477=) c.7695C>A (p.Leu2565=) c.6588C>A (p.Leu2196=) c.10614C>A (p.Leu3538=) c.6366C>A (p.Leu2122=) c.9594C>A (p.Leu3198=) | |
8 | g.99854123C>G | CA462458341 | VPS13B | c.10809C>G (p.Leu3603=) n.10879C>G c.*6491C>G (n.*6491C>G) c.10734C>G (p.Leu3578=) c.10806C>G (p.Leu3602=) c.10731C>G (p.Leu3577=) c.10431C>G (p.Leu3477=) c.7695C>G (p.Leu2565=) c.6588C>G (p.Leu2196=) c.10614C>G (p.Leu3538=) c.6366C>G (p.Leu2122=) c.9594C>G (p.Leu3198=) | gnomAD v4 COSMIC COSMIC |
8 | g.99854123C>T | CA462458342 | VPS13B | c.10809C>T (p.Leu3603=) n.10879C>T c.*6491C>T (n.*6491C>T) c.10734C>T (p.Leu3578=) c.10806C>T (p.Leu3602=) c.10731C>T (p.Leu3577=) c.10431C>T (p.Leu3477=) c.7695C>T (p.Leu2565=) c.6588C>T (p.Leu2196=) c.10614C>T (p.Leu3538=) c.6366C>T (p.Leu2122=) c.9594C>T (p.Leu3198=) | gnomAD v4 COSMIC COSMIC |
8 | g.99854124A>C | CA371785661 | VPS13B | c.10810A>C (p.Lys3604Gln) n.10880A>C c.*6492A>C (n.*6492A>C) c.10735A>C (p.Lys3579Gln) c.10807A>C (p.Lys3603Gln) c.10732A>C (p.Lys3578Gln) c.10432A>C (p.Lys3478Gln) c.7696A>C (p.Lys2566Gln) c.6589A>C (p.Lys2197Gln) c.10615A>C (p.Lys3539Gln) c.6367A>C (p.Lys2123Gln) c.9595A>C (p.Lys3199Gln) | gnomAD v4 |
8 | g.99854124A>G | CA371785663 | VPS13B | c.10810A>G (p.Lys3604Glu) n.10880A>G c.*6492A>G (n.*6492A>G) c.10735A>G (p.Lys3579Glu) c.10807A>G (p.Lys3603Glu) c.10732A>G (p.Lys3578Glu) c.10432A>G (p.Lys3478Glu) c.7696A>G (p.Lys2566Glu) c.6589A>G (p.Lys2197Glu) c.10615A>G (p.Lys3539Glu) c.6367A>G (p.Lys2123Glu) c.9595A>G (p.Lys3199Glu) | |
8 | g.99854124A>T | CA16605287 | VPS13B | c.10810A>T (p.Lys3604Ter) n.10880A>T c.*6492A>T (n.*6492A>T) c.10735A>T (p.Lys3579Ter) c.10807A>T (p.Lys3603Ter) c.10732A>T (p.Lys3578Ter) c.10432A>T (p.Lys3478Ter) c.7696A>T (p.Lys2566Ter) c.6589A>T (p.Lys2197Ter) c.10615A>T (p.Lys3539Ter) c.6367A>T (p.Lys2123Ter) c.9595A>T (p.Lys3199Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99854125A>C | CA371785669 | VPS13B | c.10811A>C (p.Lys3604Thr) n.10881A>C c.*6493A>C (n.*6493A>C) c.10736A>C (p.Lys3579Thr) c.10808A>C (p.Lys3603Thr) c.10733A>C (p.Lys3578Thr) c.10433A>C (p.Lys3478Thr) c.7697A>C (p.Lys2566Thr) c.6590A>C (p.Lys2197Thr) c.10616A>C (p.Lys3539Thr) c.6368A>C (p.Lys2123Thr) c.9596A>C (p.Lys3199Thr) | |
8 | g.99854125A>G | CA371785672 | VPS13B | c.10811A>G (p.Lys3604Arg) n.10881A>G c.*6493A>G (n.*6493A>G) c.10736A>G (p.Lys3579Arg) c.10808A>G (p.Lys3603Arg) c.10733A>G (p.Lys3578Arg) c.10433A>G (p.Lys3478Arg) c.7697A>G (p.Lys2566Arg) c.6590A>G (p.Lys2197Arg) c.10616A>G (p.Lys3539Arg) c.6368A>G (p.Lys2123Arg) c.9596A>G (p.Lys3199Arg) | |
8 | g.99854125A>T | CA371785675 | VPS13B | c.10811A>T (p.Lys3604Met) n.10881A>T c.*6493A>T (n.*6493A>T) c.10736A>T (p.Lys3579Met) c.10808A>T (p.Lys3603Met) c.10733A>T (p.Lys3578Met) c.10433A>T (p.Lys3478Met) c.7697A>T (p.Lys2566Met) c.6590A>T (p.Lys2197Met) c.10616A>T (p.Lys3539Met) c.6368A>T (p.Lys2123Met) c.9596A>T (p.Lys3199Met) | |
8 | g.99854126G>A | CA462458343 | VPS13B | c.10812G>A (p.Lys3604=) n.10882G>A c.*6494G>A (n.*6494G>A) c.10737G>A (p.Lys3579=) c.10809G>A (p.Lys3603=) c.10734G>A (p.Lys3578=) c.10434G>A (p.Lys3478=) c.7698G>A (p.Lys2566=) c.6591G>A (p.Lys2197=) c.10617G>A (p.Lys3539=) c.6369G>A (p.Lys2123=) c.9597G>A (p.Lys3199=) | |
8 | g.99854126G>C | CA371785681 | VPS13B | c.10812G>C (p.Lys3604Asn) n.10882G>C c.*6494G>C (n.*6494G>C) c.10737G>C (p.Lys3579Asn) c.10809G>C (p.Lys3603Asn) c.10734G>C (p.Lys3578Asn) c.10434G>C (p.Lys3478Asn) c.7698G>C (p.Lys2566Asn) c.6591G>C (p.Lys2197Asn) c.10617G>C (p.Lys3539Asn) c.6369G>C (p.Lys2123Asn) c.9597G>C (p.Lys3199Asn) | |
8 | g.99854126G>T | CA371785683 | VPS13B | c.10812G>T (p.Lys3604Asn) n.10882G>T c.*6494G>T (n.*6494G>T) c.10737G>T (p.Lys3579Asn) c.10809G>T (p.Lys3603Asn) c.10734G>T (p.Lys3578Asn) c.10434G>T (p.Lys3478Asn) c.7698G>T (p.Lys2566Asn) c.6591G>T (p.Lys2197Asn) c.10617G>T (p.Lys3539Asn) c.6369G>T (p.Lys2123Asn) c.9597G>T (p.Lys3199Asn) | |
8 | g.99854127C>A | CA371785684 | VPS13B | c.10813C>A (p.Leu3605Met) n.10883C>A c.*6495C>A (n.*6495C>A) c.10738C>A (p.Leu3580Met) c.10810C>A (p.Leu3604Met) c.10735C>A (p.Leu3579Met) c.10435C>A (p.Leu3479Met) c.7699C>A (p.Leu2567Met) c.6592C>A (p.Leu2198Met) c.10618C>A (p.Leu3540Met) c.6370C>A (p.Leu2124Met) c.9598C>A (p.Leu3200Met) | |
8 | g.99854127C>G | CA371785686 | VPS13B | c.10813C>G (p.Leu3605Val) n.10883C>G c.*6495C>G (n.*6495C>G) c.10738C>G (p.Leu3580Val) c.10810C>G (p.Leu3604Val) c.10735C>G (p.Leu3579Val) c.10435C>G (p.Leu3479Val) c.7699C>G (p.Leu2567Val) c.6592C>G (p.Leu2198Val) c.10618C>G (p.Leu3540Val) c.6370C>G (p.Leu2124Val) c.9598C>G (p.Leu3200Val) | |
8 | g.99854127C>T | CA462458344 | VPS13B | c.10813C>T (p.Leu3605=) n.10883C>T c.*6495C>T (n.*6495C>T) c.10738C>T (p.Leu3580=) c.10810C>T (p.Leu3604=) c.10735C>T (p.Leu3579=) c.10435C>T (p.Leu3479=) c.7699C>T (p.Leu2567=) c.6592C>T (p.Leu2198=) c.10618C>T (p.Leu3540=) c.6370C>T (p.Leu2124=) c.9598C>T (p.Leu3200=) | dbSNP gnomAD v2 |
8 | g.99854128T>A | CA371785691 | VPS13B | c.10814T>A (p.Leu3605Gln) n.10884T>A c.*6496T>A (n.*6496T>A) c.10739T>A (p.Leu3580Gln) c.10811T>A (p.Leu3604Gln) c.10736T>A (p.Leu3579Gln) c.10436T>A (p.Leu3479Gln) c.7700T>A (p.Leu2567Gln) c.6593T>A (p.Leu2198Gln) c.10619T>A (p.Leu3540Gln) c.6371T>A (p.Leu2124Gln) c.9599T>A (p.Leu3200Gln) | |
8 | g.99854128T>C | CA371785689 | VPS13B | c.10814T>C (p.Leu3605Pro) n.10884T>C c.*6496T>C (n.*6496T>C) c.10739T>C (p.Leu3580Pro) c.10811T>C (p.Leu3604Pro) c.10736T>C (p.Leu3579Pro) c.10436T>C (p.Leu3479Pro) c.7700T>C (p.Leu2567Pro) c.6593T>C (p.Leu2198Pro) c.10619T>C (p.Leu3540Pro) c.6371T>C (p.Leu2124Pro) c.9599T>C (p.Leu3200Pro) | ClinVar |
8 | g.99854128T>G | CA371785690 | VPS13B | c.10814T>G (p.Leu3605Arg) n.10884T>G c.*6496T>G (n.*6496T>G) c.10739T>G (p.Leu3580Arg) c.10811T>G (p.Leu3604Arg) c.10736T>G (p.Leu3579Arg) c.10436T>G (p.Leu3479Arg) c.7700T>G (p.Leu2567Arg) c.6593T>G (p.Leu2198Arg) c.10619T>G (p.Leu3540Arg) c.6371T>G (p.Leu2124Arg) c.9599T>G (p.Leu3200Arg) | |
8 | g.99854129G>A | CA182314804 | VPS13B | c.10815G>A (p.Leu3605=) n.10885G>A c.*6497G>A (n.*6497G>A) c.10740G>A (p.Leu3580=) c.10812G>A (p.Leu3604=) c.10737G>A (p.Leu3579=) c.10437G>A (p.Leu3479=) c.7701G>A (p.Leu2567=) c.6594G>A (p.Leu2198=) c.10620G>A (p.Leu3540=) c.6372G>A (p.Leu2124=) c.9600G>A (p.Leu3200=) | ClinVar dbSNP gnomAD v4 |
8 | g.99854129G>C | CA462458345 | VPS13B | c.10815G>C (p.Leu3605=) n.10885G>C c.*6497G>C (n.*6497G>C) c.10740G>C (p.Leu3580=) c.10812G>C (p.Leu3604=) c.10737G>C (p.Leu3579=) c.10437G>C (p.Leu3479=) c.7701G>C (p.Leu2567=) c.6594G>C (p.Leu2198=) c.10620G>C (p.Leu3540=) c.6372G>C (p.Leu2124=) c.9600G>C (p.Leu3200=) | gnomAD v4 |
8 | g.99854129G>T | CA462458346 | VPS13B | c.10815G>T (p.Leu3605=) n.10885G>T c.*6497G>T (n.*6497G>T) c.10740G>T (p.Leu3580=) c.10812G>T (p.Leu3604=) c.10737G>T (p.Leu3579=) c.10437G>T (p.Leu3479=) c.7701G>T (p.Leu2567=) c.6594G>T (p.Leu2198=) c.10620G>T (p.Leu3540=) c.6372G>T (p.Leu2124=) c.9600G>T (p.Leu3200=) | ClinVar dbSNP |
8 | g.99854130T>A | CA371785697 | VPS13B | c.10816T>A (p.Tyr3606Asn) n.10886T>A c.*6498T>A (n.*6498T>A) c.10741T>A (p.Tyr3581Asn) c.10813T>A (p.Tyr3605Asn) c.10738T>A (p.Tyr3580Asn) c.10438T>A (p.Tyr3480Asn) c.7702T>A (p.Tyr2568Asn) c.6595T>A (p.Tyr2199Asn) c.10621T>A (p.Tyr3541Asn) c.6373T>A (p.Tyr2125Asn) c.9601T>A (p.Tyr3201Asn) | |
8 | g.99854130T>C | CA371785703 | VPS13B | c.10816T>C (p.Tyr3606His) n.10886T>C c.*6498T>C (n.*6498T>C) c.10741T>C (p.Tyr3581His) c.10813T>C (p.Tyr3605His) c.10738T>C (p.Tyr3580His) c.10438T>C (p.Tyr3480His) c.7702T>C (p.Tyr2568His) c.6595T>C (p.Tyr2199His) c.10621T>C (p.Tyr3541His) c.6373T>C (p.Tyr2125His) c.9601T>C (p.Tyr3201His) | |
8 | g.99854130T>G | CA371785706 | VPS13B | c.10816T>G (p.Tyr3606Asp) n.10886T>G c.*6498T>G (n.*6498T>G) c.10741T>G (p.Tyr3581Asp) c.10813T>G (p.Tyr3605Asp) c.10738T>G (p.Tyr3580Asp) c.10438T>G (p.Tyr3480Asp) c.7702T>G (p.Tyr2568Asp) c.6595T>G (p.Tyr2199Asp) c.10621T>G (p.Tyr3541Asp) c.6373T>G (p.Tyr2125Asp) c.9601T>G (p.Tyr3201Asp) | |
8 | g.99854131A>C | CA371785714 | VPS13B | c.10817A>C (p.Tyr3606Ser) n.10887A>C c.*6499A>C (n.*6499A>C) c.10742A>C (p.Tyr3581Ser) c.10814A>C (p.Tyr3605Ser) c.10739A>C (p.Tyr3580Ser) c.10439A>C (p.Tyr3480Ser) c.7703A>C (p.Tyr2568Ser) c.6596A>C (p.Tyr2199Ser) c.10622A>C (p.Tyr3541Ser) c.6374A>C (p.Tyr2125Ser) c.9602A>C (p.Tyr3201Ser) | |
8 | g.99854131A>G | CA371785717 | VPS13B | c.10817A>G (p.Tyr3606Cys) n.10887A>G c.*6499A>G (n.*6499A>G) c.10742A>G (p.Tyr3581Cys) c.10814A>G (p.Tyr3605Cys) c.10739A>G (p.Tyr3580Cys) c.10439A>G (p.Tyr3480Cys) c.7703A>G (p.Tyr2568Cys) c.6596A>G (p.Tyr2199Cys) c.10622A>G (p.Tyr3541Cys) c.6374A>G (p.Tyr2125Cys) c.9602A>G (p.Tyr3201Cys) | gnomAD v4 |
8 | g.99854131A>T | CA371785720 | VPS13B | c.10817A>T (p.Tyr3606Phe) n.10887A>T c.*6499A>T (n.*6499A>T) c.10742A>T (p.Tyr3581Phe) c.10814A>T (p.Tyr3605Phe) c.10739A>T (p.Tyr3580Phe) c.10439A>T (p.Tyr3480Phe) c.7703A>T (p.Tyr2568Phe) c.6596A>T (p.Tyr2199Phe) c.10622A>T (p.Tyr3541Phe) c.6374A>T (p.Tyr2125Phe) c.9602A>T (p.Tyr3201Phe) |