Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99769013_99776930del | CA1139660679 | VPS13B | c.7322+2043_7478del n.7392+2043_7548del c.*3004+2043_*3160del c.7247+2043_7403del n.377+2043_378-1752del c.7319+2043_7475del c.7244+2043_7400del c.6944+2043_7100del c.4208+2043_4364del c.3101+2043_3257del n.1830+5550_2065+1677del c.7127+2043_7283del c.2879+2043_3035del c.6107+2043_6263del | ClinVar |
8 | g.99776811_99776821dup | CA2497230829 | VPS13B | c.7359_7369dup (p.Thr2457IlefsTer4) n.7429_7439dup c.*3041_*3051dup (n.*3041_*3051dup) c.7284_7294dup (p.Thr2432IlefsTer4) n.378-1871_378-1861dup c.7356_7366dup (p.Thr2456IlefsTer4) c.7281_7291dup (p.Thr2431IlefsTer4) c.6981_6991dup (p.Thr2331IlefsTer4) c.4245_4255dup (p.Thr1419IlefsTer4) c.3138_3148dup (p.Thr1050IlefsTer4) n.1830+5666_1830+5676dup c.7164_7174dup (p.Thr2392IlefsTer4) c.2916_2926dup (p.Thr976IlefsTer4) c.6144_6154dup (p.Thr2052IlefsTer4) | dbSNP |
8 | g.99776808T>A | CA371875607 | VPS13B | c.7356T>A (p.Cys2452Ter) n.7426T>A c.*3038T>A (n.*3038T>A) c.7281T>A (p.Cys2427Ter) n.378-1874T>A c.7353T>A (p.Cys2451Ter) c.7278T>A (p.Cys2426Ter) c.6978T>A (p.Cys2326Ter) c.4242T>A (p.Cys1414Ter) c.3135T>A (p.Cys1045Ter) n.1830+5670A>T c.7161T>A (p.Cys2387Ter) c.2913T>A (p.Cys971Ter) c.6141T>A (p.Cys2047Ter) | |
8 | g.99776808T>C | CA462449150 | VPS13B | c.7356T>C (p.Cys2452=) n.7426T>C c.*3038T>C (n.*3038T>C) c.7281T>C (p.Cys2427=) n.378-1874T>C c.7353T>C (p.Cys2451=) c.7278T>C (p.Cys2426=) c.6978T>C (p.Cys2326=) c.4242T>C (p.Cys1414=) c.3135T>C (p.Cys1045=) n.1830+5670A>G c.7161T>C (p.Cys2387=) c.2913T>C (p.Cys971=) c.6141T>C (p.Cys2047=) | |
8 | g.99776808T>G | CA371875608 | VPS13B | c.7356T>G (p.Cys2452Trp) n.7426T>G c.*3038T>G (n.*3038T>G) c.7281T>G (p.Cys2427Trp) n.378-1874T>G c.7353T>G (p.Cys2451Trp) c.7278T>G (p.Cys2426Trp) c.6978T>G (p.Cys2326Trp) c.4242T>G (p.Cys1414Trp) c.3135T>G (p.Cys1045Trp) n.1830+5670A>C c.7161T>G (p.Cys2387Trp) c.2913T>G (p.Cys971Trp) c.6141T>G (p.Cys2047Trp) | |
8 | g.99776809G>A | CA371875609 | VPS13B | c.7357G>A (p.Asp2453Asn) n.7427G>A c.*3039G>A (n.*3039G>A) c.7282G>A (p.Asp2428Asn) n.378-1873G>A c.7354G>A (p.Asp2452Asn) c.7279G>A (p.Asp2427Asn) c.6979G>A (p.Asp2327Asn) c.4243G>A (p.Asp1415Asn) c.3136G>A (p.Asp1046Asn) n.1830+5669C>T c.7162G>A (p.Asp2388Asn) c.2914G>A (p.Asp972Asn) c.6142G>A (p.Asp2048Asn) | |
8 | g.99776809G>C | CA371875611 | VPS13B | c.7357G>C (p.Asp2453His) n.7427G>C c.*3039G>C (n.*3039G>C) c.7282G>C (p.Asp2428His) n.378-1873G>C c.7354G>C (p.Asp2452His) c.7279G>C (p.Asp2427His) c.6979G>C (p.Asp2327His) c.4243G>C (p.Asp1415His) c.3136G>C (p.Asp1046His) n.1830+5669C>G c.7162G>C (p.Asp2388His) c.2914G>C (p.Asp972His) c.6142G>C (p.Asp2048His) | |
8 | g.99776809G>T | CA371875610 | VPS13B | c.7357G>T (p.Asp2453Tyr) n.7427G>T c.*3039G>T (n.*3039G>T) c.7282G>T (p.Asp2428Tyr) n.378-1873G>T c.7354G>T (p.Asp2452Tyr) c.7279G>T (p.Asp2427Tyr) c.6979G>T (p.Asp2327Tyr) c.4243G>T (p.Asp1415Tyr) c.3136G>T (p.Asp1046Tyr) n.1830+5669C>A c.7162G>T (p.Asp2388Tyr) c.2914G>T (p.Asp972Tyr) c.6142G>T (p.Asp2048Tyr) | |
8 | g.99776810del | CA2688068075 | VPS13B | c.7358del (p.Asp2453ValfsTer4) n.7428del c.*3040del (n.*3040del) c.7283del (p.Asp2428ValfsTer4) n.378-1872del c.7355del (p.Asp2452ValfsTer4) c.7280del (p.Asp2427ValfsTer4) c.6980del (p.Asp2327ValfsTer4) c.4244del (p.Asp1415ValfsTer4) c.3137del (p.Asp1046ValfsTer4) n.1830+5668del c.7163del (p.Asp2388ValfsTer4) c.2915del (p.Asp972ValfsTer4) c.6143del (p.Asp2048ValfsTer4) | gnomAD v4 |
8 | g.99776810A>C | CA371875612 | VPS13B | c.7358A>C (p.Asp2453Ala) n.7428A>C c.*3040A>C (n.*3040A>C) c.7283A>C (p.Asp2428Ala) n.378-1872A>C c.7355A>C (p.Asp2452Ala) c.7280A>C (p.Asp2427Ala) c.6980A>C (p.Asp2327Ala) c.4244A>C (p.Asp1415Ala) c.3137A>C (p.Asp1046Ala) n.1830+5668T>G c.7163A>C (p.Asp2388Ala) c.2915A>C (p.Asp972Ala) c.6143A>C (p.Asp2048Ala) | |
8 | g.99776810A>G | CA371875613 | VPS13B | c.7358A>G (p.Asp2453Gly) n.7428A>G c.*3040A>G (n.*3040A>G) c.7283A>G (p.Asp2428Gly) n.378-1872A>G c.7355A>G (p.Asp2452Gly) c.7280A>G (p.Asp2427Gly) c.6980A>G (p.Asp2327Gly) c.4244A>G (p.Asp1415Gly) c.3137A>G (p.Asp1046Gly) n.1830+5668T>C c.7163A>G (p.Asp2388Gly) c.2915A>G (p.Asp972Gly) c.6143A>G (p.Asp2048Gly) | gnomAD v4 |
8 | g.99776810A>T | CA371875614 | VPS13B | c.7358A>T (p.Asp2453Val) n.7428A>T c.*3040A>T (n.*3040A>T) c.7283A>T (p.Asp2428Val) n.378-1872A>T c.7355A>T (p.Asp2452Val) c.7280A>T (p.Asp2427Val) c.6980A>T (p.Asp2327Val) c.4244A>T (p.Asp1415Val) c.3137A>T (p.Asp1046Val) n.1830+5668T>A c.7163A>T (p.Asp2388Val) c.2915A>T (p.Asp972Val) c.6143A>T (p.Asp2048Val) | |
8 | g.99776811T>A | CA371875615 | VPS13B | c.7359T>A (p.Asp2453Glu) n.7429T>A c.*3041T>A (n.*3041T>A) c.7284T>A (p.Asp2428Glu) n.378-1871T>A c.7356T>A (p.Asp2452Glu) c.7281T>A (p.Asp2427Glu) c.6981T>A (p.Asp2327Glu) c.4245T>A (p.Asp1415Glu) c.3138T>A (p.Asp1046Glu) n.1830+5667A>T c.7164T>A (p.Asp2388Glu) c.2916T>A (p.Asp972Glu) c.6144T>A (p.Asp2048Glu) | |
8 | g.99776811T>C | CA462449151 | VPS13B | c.7359T>C (p.Asp2453=) n.7429T>C c.*3041T>C (n.*3041T>C) c.7284T>C (p.Asp2428=) n.378-1871T>C c.7356T>C (p.Asp2452=) c.7281T>C (p.Asp2427=) c.6981T>C (p.Asp2327=) c.4245T>C (p.Asp1415=) c.3138T>C (p.Asp1046=) n.1830+5667A>G c.7164T>C (p.Asp2388=) c.2916T>C (p.Asp972=) c.6144T>C (p.Asp2048=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776811T>G | CA371875616 | VPS13B | c.7359T>G (p.Asp2453Glu) n.7429T>G c.*3041T>G (n.*3041T>G) c.7284T>G (p.Asp2428Glu) n.378-1871T>G c.7356T>G (p.Asp2452Glu) c.7281T>G (p.Asp2427Glu) c.6981T>G (p.Asp2327Glu) c.4245T>G (p.Asp1415Glu) c.3138T>G (p.Asp1046Glu) n.1830+5667A>C c.7164T>G (p.Asp2388Glu) c.2916T>G (p.Asp972Glu) c.6144T>G (p.Asp2048Glu) | |
8 | g.99776812C>A | CA371875617 | VPS13B | c.7360C>A (p.Pro2454Thr) n.7430C>A c.*3042C>A (n.*3042C>A) c.7285C>A (p.Pro2429Thr) n.378-1870C>A c.7357C>A (p.Pro2453Thr) c.7282C>A (p.Pro2428Thr) c.6982C>A (p.Pro2328Thr) c.4246C>A (p.Pro1416Thr) c.3139C>A (p.Pro1047Thr) n.1830+5666G>T c.7165C>A (p.Pro2389Thr) c.2917C>A (p.Pro973Thr) c.6145C>A (p.Pro2049Thr) | |
8 | g.99776812C>G | CA371875618 | VPS13B | c.7360C>G (p.Pro2454Ala) n.7430C>G c.*3042C>G (n.*3042C>G) c.7285C>G (p.Pro2429Ala) n.378-1870C>G c.7357C>G (p.Pro2453Ala) c.7282C>G (p.Pro2428Ala) c.6982C>G (p.Pro2328Ala) c.4246C>G (p.Pro1416Ala) c.3139C>G (p.Pro1047Ala) n.1830+5666G>C c.7165C>G (p.Pro2389Ala) c.2917C>G (p.Pro973Ala) c.6145C>G (p.Pro2049Ala) | |
8 | g.99776812C>T | CA371875619 | VPS13B | c.7360C>T (p.Pro2454Ser) n.7430C>T c.*3042C>T (n.*3042C>T) c.7285C>T (p.Pro2429Ser) n.378-1870C>T c.7357C>T (p.Pro2453Ser) c.7282C>T (p.Pro2428Ser) c.6982C>T (p.Pro2328Ser) c.4246C>T (p.Pro1416Ser) c.3139C>T (p.Pro1047Ser) n.1830+5666G>A c.7165C>T (p.Pro2389Ser) c.2917C>T (p.Pro973Ser) c.6145C>T (p.Pro2049Ser) | |
8 | g.99776813C>A | CA371875620 | VPS13B | c.7361C>A (p.Pro2454Gln) n.7431C>A c.*3043C>A (n.*3043C>A) c.7286C>A (p.Pro2429Gln) n.378-1869C>A c.7358C>A (p.Pro2453Gln) c.7283C>A (p.Pro2428Gln) c.6983C>A (p.Pro2328Gln) c.4247C>A (p.Pro1416Gln) c.3140C>A (p.Pro1047Gln) n.1830+5665G>T c.7166C>A (p.Pro2389Gln) c.2918C>A (p.Pro973Gln) c.6146C>A (p.Pro2049Gln) | |
8 | g.99776813C>G | CA371875621 | VPS13B | c.7361C>G (p.Pro2454Arg) n.7431C>G c.*3043C>G (n.*3043C>G) c.7286C>G (p.Pro2429Arg) n.378-1869C>G c.7358C>G (p.Pro2453Arg) c.7283C>G (p.Pro2428Arg) c.6983C>G (p.Pro2328Arg) c.4247C>G (p.Pro1416Arg) c.3140C>G (p.Pro1047Arg) n.1830+5665G>C c.7166C>G (p.Pro2389Arg) c.2918C>G (p.Pro973Arg) c.6146C>G (p.Pro2049Arg) | |
8 | g.99776813C>T | CA183041708 | VPS13B | c.7361C>T (p.Pro2454Leu) n.7431C>T c.*3043C>T (n.*3043C>T) c.7286C>T (p.Pro2429Leu) n.378-1869C>T c.7358C>T (p.Pro2453Leu) c.7283C>T (p.Pro2428Leu) c.6983C>T (p.Pro2328Leu) c.4247C>T (p.Pro1416Leu) c.3140C>T (p.Pro1047Leu) n.1830+5665G>A c.7166C>T (p.Pro2389Leu) c.2918C>T (p.Pro973Leu) c.6146C>T (p.Pro2049Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776814A>C | CA462449153 | VPS13B | c.7362A>C (p.Pro2454=) n.7432A>C c.*3044A>C (n.*3044A>C) c.7287A>C (p.Pro2429=) n.378-1868A>C c.7359A>C (p.Pro2453=) c.7284A>C (p.Pro2428=) c.6984A>C (p.Pro2328=) c.4248A>C (p.Pro1416=) c.3141A>C (p.Pro1047=) n.1830+5664T>G c.7167A>C (p.Pro2389=) c.2919A>C (p.Pro973=) c.6147A>C (p.Pro2049=) | |
8 | g.99776814A>G | CA462449154 | VPS13B | c.7362A>G (p.Pro2454=) n.7432A>G c.*3044A>G (n.*3044A>G) c.7287A>G (p.Pro2429=) n.378-1868A>G c.7359A>G (p.Pro2453=) c.7284A>G (p.Pro2428=) c.6984A>G (p.Pro2328=) c.4248A>G (p.Pro1416=) c.3141A>G (p.Pro1047=) n.1830+5664T>C c.7167A>G (p.Pro2389=) c.2919A>G (p.Pro973=) c.6147A>G (p.Pro2049=) | gnomAD v4 |
8 | g.99776814A>T | CA462449152 | VPS13B | c.7362A>T (p.Pro2454=) n.7432A>T c.*3044A>T (n.*3044A>T) c.7287A>T (p.Pro2429=) n.378-1868A>T c.7359A>T (p.Pro2453=) c.7284A>T (p.Pro2428=) c.6984A>T (p.Pro2328=) c.4248A>T (p.Pro1416=) c.3141A>T (p.Pro1047=) n.1830+5664T>A c.7167A>T (p.Pro2389=) c.2919A>T (p.Pro973=) c.6147A>T (p.Pro2049=) | |
8 | g.99776815C>A | CA371875624 | VPS13B | c.7363C>A (p.Leu2455Ile) n.7433C>A c.*3045C>A (n.*3045C>A) c.7288C>A (p.Leu2430Ile) n.378-1867C>A c.7360C>A (p.Leu2454Ile) c.7285C>A (p.Leu2429Ile) c.6985C>A (p.Leu2329Ile) c.4249C>A (p.Leu1417Ile) c.3142C>A (p.Leu1048Ile) n.1830+5663G>T c.7168C>A (p.Leu2390Ile) c.2920C>A (p.Leu974Ile) c.6148C>A (p.Leu2050Ile) | |
8 | g.99776815C>G | CA371875623 | VPS13B | c.7363C>G (p.Leu2455Val) n.7433C>G c.*3045C>G (n.*3045C>G) c.7288C>G (p.Leu2430Val) n.378-1867C>G c.7360C>G (p.Leu2454Val) c.7285C>G (p.Leu2429Val) c.6985C>G (p.Leu2329Val) c.4249C>G (p.Leu1417Val) c.3142C>G (p.Leu1048Val) n.1830+5663G>C c.7168C>G (p.Leu2390Val) c.2920C>G (p.Leu974Val) c.6148C>G (p.Leu2050Val) | |
8 | g.99776815C>T | CA371875622 | VPS13B | c.7363C>T (p.Leu2455Phe) n.7433C>T c.*3045C>T (n.*3045C>T) c.7288C>T (p.Leu2430Phe) n.378-1867C>T c.7360C>T (p.Leu2454Phe) c.7285C>T (p.Leu2429Phe) c.6985C>T (p.Leu2329Phe) c.4249C>T (p.Leu1417Phe) c.3142C>T (p.Leu1048Phe) n.1830+5663G>A c.7168C>T (p.Leu2390Phe) c.2920C>T (p.Leu974Phe) c.6148C>T (p.Leu2050Phe) | |
8 | g.99776816T>A | CA371875625 | VPS13B | c.7364T>A (p.Leu2455His) n.7434T>A c.*3046T>A (n.*3046T>A) c.7289T>A (p.Leu2430His) n.378-1866T>A c.7361T>A (p.Leu2454His) c.7286T>A (p.Leu2429His) c.6986T>A (p.Leu2329His) c.4250T>A (p.Leu1417His) c.3143T>A (p.Leu1048His) n.1830+5662A>T c.7169T>A (p.Leu2390His) c.2921T>A (p.Leu974His) c.6149T>A (p.Leu2050His) | |
8 | g.99776816T>C | CA371875627 | VPS13B | c.7364T>C (p.Leu2455Pro) n.7434T>C c.*3046T>C (n.*3046T>C) c.7289T>C (p.Leu2430Pro) n.378-1866T>C c.7361T>C (p.Leu2454Pro) c.7286T>C (p.Leu2429Pro) c.6986T>C (p.Leu2329Pro) c.4250T>C (p.Leu1417Pro) c.3143T>C (p.Leu1048Pro) n.1830+5662A>G c.7169T>C (p.Leu2390Pro) c.2921T>C (p.Leu974Pro) c.6149T>C (p.Leu2050Pro) | gnomAD v4 |
8 | g.99776816T>G | CA371875626 | VPS13B | c.7364T>G (p.Leu2455Arg) n.7434T>G c.*3046T>G (n.*3046T>G) c.7289T>G (p.Leu2430Arg) n.378-1866T>G c.7361T>G (p.Leu2454Arg) c.7286T>G (p.Leu2429Arg) c.6986T>G (p.Leu2329Arg) c.4250T>G (p.Leu1417Arg) c.3143T>G (p.Leu1048Arg) n.1830+5662A>C c.7169T>G (p.Leu2390Arg) c.2921T>G (p.Leu974Arg) c.6149T>G (p.Leu2050Arg) | |
8 | g.99776817T>A | CA462449155 | VPS13B | c.7365T>A (p.Leu2455=) n.7435T>A c.*3047T>A (n.*3047T>A) c.7290T>A (p.Leu2430=) n.378-1865T>A c.7362T>A (p.Leu2454=) c.7287T>A (p.Leu2429=) c.6987T>A (p.Leu2329=) c.4251T>A (p.Leu1417=) c.3144T>A (p.Leu1048=) n.1830+5661A>T c.7170T>A (p.Leu2390=) c.2922T>A (p.Leu974=) c.6150T>A (p.Leu2050=) | |
8 | g.99776817T>C | CA462449156 | VPS13B | c.7365T>C (p.Leu2455=) n.7435T>C c.*3047T>C (n.*3047T>C) c.7290T>C (p.Leu2430=) n.378-1865T>C c.7362T>C (p.Leu2454=) c.7287T>C (p.Leu2429=) c.6987T>C (p.Leu2329=) c.4251T>C (p.Leu1417=) c.3144T>C (p.Leu1048=) n.1830+5661A>G c.7170T>C (p.Leu2390=) c.2922T>C (p.Leu974=) c.6150T>C (p.Leu2050=) | |
8 | g.99776817T>G | CA462449157 | VPS13B | c.7365T>G (p.Leu2455=) n.7435T>G c.*3047T>G (n.*3047T>G) c.7290T>G (p.Leu2430=) n.378-1865T>G c.7362T>G (p.Leu2454=) c.7287T>G (p.Leu2429=) c.6987T>G (p.Leu2329=) c.4251T>G (p.Leu1417=) c.3144T>G (p.Leu1048=) n.1830+5661A>C c.7170T>G (p.Leu2390=) c.2922T>G (p.Leu974=) c.6150T>G (p.Leu2050=) | |
8 | g.99776818G>A | CA4824188 | VPS13B | c.7366G>A (p.Val2456Met) n.7436G>A c.*3048G>A (n.*3048G>A) c.7291G>A (p.Val2431Met) n.378-1864G>A c.7363G>A (p.Val2455Met) c.7288G>A (p.Val2430Met) c.6988G>A (p.Val2330Met) c.4252G>A (p.Val1418Met) c.3145G>A (p.Val1049Met) n.1830+5660C>T c.7171G>A (p.Val2391Met) c.2923G>A (p.Val975Met) c.6151G>A (p.Val2051Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776818G>C | CA371875629 | VPS13B | c.7366G>C (p.Val2456Leu) n.7436G>C c.*3048G>C (n.*3048G>C) c.7291G>C (p.Val2431Leu) n.378-1864G>C c.7363G>C (p.Val2455Leu) c.7288G>C (p.Val2430Leu) c.6988G>C (p.Val2330Leu) c.4252G>C (p.Val1418Leu) c.3145G>C (p.Val1049Leu) n.1830+5660C>G c.7171G>C (p.Val2391Leu) c.2923G>C (p.Val975Leu) c.6151G>C (p.Val2051Leu) | |
8 | g.99776818G>T | CA371875628 | VPS13B | c.7366G>T (p.Val2456Leu) n.7436G>T c.*3048G>T (n.*3048G>T) c.7291G>T (p.Val2431Leu) n.378-1864G>T c.7363G>T (p.Val2455Leu) c.7288G>T (p.Val2430Leu) c.6988G>T (p.Val2330Leu) c.4252G>T (p.Val1418Leu) c.3145G>T (p.Val1049Leu) n.1830+5660C>A c.7171G>T (p.Val2391Leu) c.2923G>T (p.Val975Leu) c.6151G>T (p.Val2051Leu) | |
8 | g.99776819T>A | CA371875630 | VPS13B | c.7367T>A (p.Val2456Glu) n.7437T>A c.*3049T>A (n.*3049T>A) c.7292T>A (p.Val2431Glu) n.378-1863T>A c.7364T>A (p.Val2455Glu) c.7289T>A (p.Val2430Glu) c.6989T>A (p.Val2330Glu) c.4253T>A (p.Val1418Glu) c.3146T>A (p.Val1049Glu) n.1830+5659A>T c.7172T>A (p.Val2391Glu) c.2924T>A (p.Val975Glu) c.6152T>A (p.Val2051Glu) | |
8 | g.99776819T>C | CA183041712 | VPS13B | c.7367T>C (p.Val2456Ala) n.7437T>C c.*3049T>C (n.*3049T>C) c.7292T>C (p.Val2431Ala) n.378-1863T>C c.7364T>C (p.Val2455Ala) c.7289T>C (p.Val2430Ala) c.6989T>C (p.Val2330Ala) c.4253T>C (p.Val1418Ala) c.3146T>C (p.Val1049Ala) n.1830+5659A>G c.7172T>C (p.Val2391Ala) c.2924T>C (p.Val975Ala) c.6152T>C (p.Val2051Ala) | dbSNP |
8 | g.99776819T>G | CA371875631 | VPS13B | c.7367T>G (p.Val2456Gly) n.7437T>G c.*3049T>G (n.*3049T>G) c.7292T>G (p.Val2431Gly) n.378-1863T>G c.7364T>G (p.Val2455Gly) c.7289T>G (p.Val2430Gly) c.6989T>G (p.Val2330Gly) c.4253T>G (p.Val1418Gly) c.3146T>G (p.Val1049Gly) n.1830+5659A>C c.7172T>G (p.Val2391Gly) c.2924T>G (p.Val975Gly) c.6152T>G (p.Val2051Gly) | |
8 | g.99776820G>A | CA462449158 | VPS13B | c.7368G>A (p.Val2456=) n.7438G>A c.*3050G>A (n.*3050G>A) c.7293G>A (p.Val2431=) n.378-1862G>A c.7365G>A (p.Val2455=) c.7290G>A (p.Val2430=) c.6990G>A (p.Val2330=) c.4254G>A (p.Val1418=) c.3147G>A (p.Val1049=) n.1830+5658C>T c.7173G>A (p.Val2391=) c.2925G>A (p.Val975=) c.6153G>A (p.Val2051=) | ClinVar |
8 | g.99776820G>C | CA462449159 | VPS13B | c.7368G>C (p.Val2456=) n.7438G>C c.*3050G>C (n.*3050G>C) c.7293G>C (p.Val2431=) n.378-1862G>C c.7365G>C (p.Val2455=) c.7290G>C (p.Val2430=) c.6990G>C (p.Val2330=) c.4254G>C (p.Val1418=) c.3147G>C (p.Val1049=) n.1830+5658C>G c.7173G>C (p.Val2391=) c.2925G>C (p.Val975=) c.6153G>C (p.Val2051=) | |
8 | g.99776820G>T | CA462449160 | VPS13B | c.7368G>T (p.Val2456=) n.7438G>T c.*3050G>T (n.*3050G>T) c.7293G>T (p.Val2431=) n.378-1862G>T c.7365G>T (p.Val2455=) c.7290G>T (p.Val2430=) c.6990G>T (p.Val2330=) c.4254G>T (p.Val1418=) c.3147G>T (p.Val1049=) n.1830+5658C>A c.7173G>T (p.Val2391=) c.2925G>T (p.Val975=) c.6153G>T (p.Val2051=) | |
8 | g.99776821A>C | CA371875632 | VPS13B | c.7369A>C (p.Thr2457Pro) n.7439A>C c.*3051A>C (n.*3051A>C) c.7294A>C (p.Thr2432Pro) n.378-1861A>C c.7366A>C (p.Thr2456Pro) c.7291A>C (p.Thr2431Pro) c.6991A>C (p.Thr2331Pro) c.4255A>C (p.Thr1419Pro) c.3148A>C (p.Thr1050Pro) n.1830+5657T>G c.7174A>C (p.Thr2392Pro) c.2926A>C (p.Thr976Pro) c.6154A>C (p.Thr2052Pro) | |
8 | g.99776821A>G | CA371875633 | VPS13B | c.7369A>G (p.Thr2457Ala) n.7439A>G c.*3051A>G (n.*3051A>G) c.7294A>G (p.Thr2432Ala) n.378-1861A>G c.7366A>G (p.Thr2456Ala) c.7291A>G (p.Thr2431Ala) c.6991A>G (p.Thr2331Ala) c.4255A>G (p.Thr1419Ala) c.3148A>G (p.Thr1050Ala) n.1830+5657T>C c.7174A>G (p.Thr2392Ala) c.2926A>G (p.Thr976Ala) c.6154A>G (p.Thr2052Ala) | |
8 | g.99776821A>T | CA371875634 | VPS13B | c.7369A>T (p.Thr2457Ser) n.7439A>T c.*3051A>T (n.*3051A>T) c.7294A>T (p.Thr2432Ser) n.378-1861A>T c.7366A>T (p.Thr2456Ser) c.7291A>T (p.Thr2431Ser) c.6991A>T (p.Thr2331Ser) c.4255A>T (p.Thr1419Ser) c.3148A>T (p.Thr1050Ser) n.1830+5657T>A c.7174A>T (p.Thr2392Ser) c.2926A>T (p.Thr976Ser) c.6154A>T (p.Thr2052Ser) | |
8 | g.99776822C>A | CA371875635 | VPS13B | c.7370C>A (p.Thr2457Asn) n.7440C>A c.*3052C>A (n.*3052C>A) c.7295C>A (p.Thr2432Asn) n.378-1860C>A c.7367C>A (p.Thr2456Asn) c.7292C>A (p.Thr2431Asn) c.6992C>A (p.Thr2331Asn) c.4256C>A (p.Thr1419Asn) c.3149C>A (p.Thr1050Asn) n.1830+5656G>T c.7175C>A (p.Thr2392Asn) c.2927C>A (p.Thr976Asn) c.6155C>A (p.Thr2052Asn) | |
8 | g.99776822C>G | CA371875636 | VPS13B | c.7370C>G (p.Thr2457Ser) n.7440C>G c.*3052C>G (n.*3052C>G) c.7295C>G (p.Thr2432Ser) n.378-1860C>G c.7367C>G (p.Thr2456Ser) c.7292C>G (p.Thr2431Ser) c.6992C>G (p.Thr2331Ser) c.4256C>G (p.Thr1419Ser) c.3149C>G (p.Thr1050Ser) n.1830+5656G>C c.7175C>G (p.Thr2392Ser) c.2927C>G (p.Thr976Ser) c.6155C>G (p.Thr2052Ser) | |
8 | g.99776822C>T | CA371875637 | VPS13B | c.7370C>T (p.Thr2457Ile) n.7440C>T c.*3052C>T (n.*3052C>T) c.7295C>T (p.Thr2432Ile) n.378-1860C>T c.7367C>T (p.Thr2456Ile) c.7292C>T (p.Thr2431Ile) c.6992C>T (p.Thr2331Ile) c.4256C>T (p.Thr1419Ile) c.3149C>T (p.Thr1050Ile) n.1830+5656G>A c.7175C>T (p.Thr2392Ile) c.2927C>T (p.Thr976Ile) c.6155C>T (p.Thr2052Ile) | ClinVar dbSNP |
8 | g.99776823T>A | CA462449161 | VPS13B | c.7371T>A (p.Thr2457=) n.7441T>A c.*3053T>A (n.*3053T>A) c.7296T>A (p.Thr2432=) n.378-1859T>A c.7368T>A (p.Thr2456=) c.7293T>A (p.Thr2431=) c.6993T>A (p.Thr2331=) c.4257T>A (p.Thr1419=) c.3150T>A (p.Thr1050=) n.1830+5655A>T c.7176T>A (p.Thr2392=) c.2928T>A (p.Thr976=) c.6156T>A (p.Thr2052=) | |
8 | g.99776823T>C | CA462449162 | VPS13B | c.7371T>C (p.Thr2457=) n.7441T>C c.*3053T>C (n.*3053T>C) c.7296T>C (p.Thr2432=) n.378-1859T>C c.7368T>C (p.Thr2456=) c.7293T>C (p.Thr2431=) c.6993T>C (p.Thr2331=) c.4257T>C (p.Thr1419=) c.3150T>C (p.Thr1050=) n.1830+5655A>G c.7176T>C (p.Thr2392=) c.2928T>C (p.Thr976=) c.6156T>C (p.Thr2052=) | |
8 | g.99776823T>G | CA462449163 | VPS13B | c.7371T>G (p.Thr2457=) n.7441T>G c.*3053T>G (n.*3053T>G) c.7296T>G (p.Thr2432=) n.378-1859T>G c.7368T>G (p.Thr2456=) c.7293T>G (p.Thr2431=) c.6993T>G (p.Thr2331=) c.4257T>G (p.Thr1419=) c.3150T>G (p.Thr1050=) n.1830+5655A>C c.7176T>G (p.Thr2392=) c.2928T>G (p.Thr976=) c.6156T>G (p.Thr2052=) | |
8 | g.99776824C>A | CA371875638 | VPS13B | c.7372C>A (p.Pro2458Thr) n.7442C>A c.*3054C>A (n.*3054C>A) c.7297C>A (p.Pro2433Thr) n.378-1858C>A c.7369C>A (p.Pro2457Thr) c.7294C>A (p.Pro2432Thr) c.6994C>A (p.Pro2332Thr) c.4258C>A (p.Pro1420Thr) c.3151C>A (p.Pro1051Thr) n.1830+5654G>T c.7177C>A (p.Pro2393Thr) c.2929C>A (p.Pro977Thr) c.6157C>A (p.Pro2053Thr) | |
8 | g.99776824C>G | CA371875639 | VPS13B | c.7372C>G (p.Pro2458Ala) n.7442C>G c.*3054C>G (n.*3054C>G) c.7297C>G (p.Pro2433Ala) n.378-1858C>G c.7369C>G (p.Pro2457Ala) c.7294C>G (p.Pro2432Ala) c.6994C>G (p.Pro2332Ala) c.4258C>G (p.Pro1420Ala) c.3151C>G (p.Pro1051Ala) n.1830+5654G>C c.7177C>G (p.Pro2393Ala) c.2929C>G (p.Pro977Ala) c.6157C>G (p.Pro2053Ala) | |
8 | g.99776824C>T | CA183041714 | VPS13B | c.7372C>T (p.Pro2458Ser) n.7442C>T c.*3054C>T (n.*3054C>T) c.7297C>T (p.Pro2433Ser) n.378-1858C>T c.7369C>T (p.Pro2457Ser) c.7294C>T (p.Pro2432Ser) c.6994C>T (p.Pro2332Ser) c.4258C>T (p.Pro1420Ser) c.3151C>T (p.Pro1051Ser) n.1830+5654G>A c.7177C>T (p.Pro2393Ser) c.2929C>T (p.Pro977Ser) c.6157C>T (p.Pro2053Ser) | dbSNP |
8 | g.99776825dup | CA2688068076 | VPS13B | c.7373dup (p.Thr2459AsnfsTer10) n.7443dup c.*3055dup (n.*3055dup) c.7298dup (p.Thr2434AsnfsTer10) n.378-1857dup c.7370dup (p.Thr2458AsnfsTer10) c.7295dup (p.Thr2433AsnfsTer10) c.6995dup (p.Thr2333AsnfsTer10) c.4259dup (p.Thr1421AsnfsTer10) c.3152dup (p.Thr1052AsnfsTer10) n.1830+5654dup c.7178dup (p.Thr2394AsnfsTer10) c.2930dup (p.Thr978AsnfsTer10) c.6158dup (p.Thr2054AsnfsTer10) | gnomAD v4 |
8 | g.99776825C>A | CA371875640 | VPS13B | c.7373C>A (p.Pro2458Gln) n.7443C>A c.*3055C>A (n.*3055C>A) c.7298C>A (p.Pro2433Gln) n.378-1857C>A c.7370C>A (p.Pro2457Gln) c.7295C>A (p.Pro2432Gln) c.6995C>A (p.Pro2332Gln) c.4259C>A (p.Pro1420Gln) c.3152C>A (p.Pro1051Gln) n.1830+5653G>T c.7178C>A (p.Pro2393Gln) c.2930C>A (p.Pro977Gln) c.6158C>A (p.Pro2053Gln) | |
8 | g.99776825C>G | CA371875641 | VPS13B | c.7373C>G (p.Pro2458Arg) n.7443C>G c.*3055C>G (n.*3055C>G) c.7298C>G (p.Pro2433Arg) n.378-1857C>G c.7370C>G (p.Pro2457Arg) c.7295C>G (p.Pro2432Arg) c.6995C>G (p.Pro2332Arg) c.4259C>G (p.Pro1420Arg) c.3152C>G (p.Pro1051Arg) n.1830+5653G>C c.7178C>G (p.Pro2393Arg) c.2930C>G (p.Pro977Arg) c.6158C>G (p.Pro2053Arg) | |
8 | g.99776825C>T | CA371875642 | VPS13B | c.7373C>T (p.Pro2458Leu) n.7443C>T c.*3055C>T (n.*3055C>T) c.7298C>T (p.Pro2433Leu) n.378-1857C>T c.7370C>T (p.Pro2457Leu) c.7295C>T (p.Pro2432Leu) c.6995C>T (p.Pro2332Leu) c.4259C>T (p.Pro1420Leu) c.3152C>T (p.Pro1051Leu) n.1830+5653G>A c.7178C>T (p.Pro2393Leu) c.2930C>T (p.Pro977Leu) c.6158C>T (p.Pro2053Leu) | |
8 | g.99776826A>C | CA462449164 | VPS13B | c.7374A>C (p.Pro2458=) n.7444A>C c.*3056A>C (n.*3056A>C) c.7299A>C (p.Pro2433=) n.378-1856A>C c.7371A>C (p.Pro2457=) c.7296A>C (p.Pro2432=) c.6996A>C (p.Pro2332=) c.4260A>C (p.Pro1420=) c.3153A>C (p.Pro1051=) n.1830+5652T>G c.7179A>C (p.Pro2393=) c.2931A>C (p.Pro977=) c.6159A>C (p.Pro2053=) | |
8 | g.99776826A>G | CA462449165 | VPS13B | c.7374A>G (p.Pro2458=) n.7444A>G c.*3056A>G (n.*3056A>G) c.7299A>G (p.Pro2433=) n.378-1856A>G c.7371A>G (p.Pro2457=) c.7296A>G (p.Pro2432=) c.6996A>G (p.Pro2332=) c.4260A>G (p.Pro1420=) c.3153A>G (p.Pro1051=) n.1830+5652T>C c.7179A>G (p.Pro2393=) c.2931A>G (p.Pro977=) c.6159A>G (p.Pro2053=) | ClinVar dbSNP |
8 | g.99776826A>T | CA462449166 | VPS13B | c.7374A>T (p.Pro2458=) n.7444A>T c.*3056A>T (n.*3056A>T) c.7299A>T (p.Pro2433=) n.378-1856A>T c.7371A>T (p.Pro2457=) c.7296A>T (p.Pro2432=) c.6996A>T (p.Pro2332=) c.4260A>T (p.Pro1420=) c.3153A>T (p.Pro1051=) n.1830+5652T>A c.7179A>T (p.Pro2393=) c.2931A>T (p.Pro977=) c.6159A>T (p.Pro2053=) | |
8 | g.99776827A>C | CA371875643 | VPS13B | c.7375A>C (p.Thr2459Pro) n.7445A>C c.*3057A>C (n.*3057A>C) c.7300A>C (p.Thr2434Pro) n.378-1855A>C c.7372A>C (p.Thr2458Pro) c.7297A>C (p.Thr2433Pro) c.6997A>C (p.Thr2333Pro) c.4261A>C (p.Thr1421Pro) c.3154A>C (p.Thr1052Pro) n.1830+5651T>G c.7180A>C (p.Thr2394Pro) c.2932A>C (p.Thr978Pro) c.6160A>C (p.Thr2054Pro) | |
8 | g.99776827A>G | CA4824189 | VPS13B | c.7375A>G (p.Thr2459Ala) n.7445A>G c.*3057A>G (n.*3057A>G) c.7300A>G (p.Thr2434Ala) n.378-1855A>G c.7372A>G (p.Thr2458Ala) c.7297A>G (p.Thr2433Ala) c.6997A>G (p.Thr2333Ala) c.4261A>G (p.Thr1421Ala) c.3154A>G (p.Thr1052Ala) n.1830+5651T>C c.7180A>G (p.Thr2394Ala) c.2932A>G (p.Thr978Ala) c.6160A>G (p.Thr2054Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99776827A>T | CA371875644 | VPS13B | c.7375A>T (p.Thr2459Ser) n.7445A>T c.*3057A>T (n.*3057A>T) c.7300A>T (p.Thr2434Ser) n.378-1855A>T c.7372A>T (p.Thr2458Ser) c.7297A>T (p.Thr2433Ser) c.6997A>T (p.Thr2333Ser) c.4261A>T (p.Thr1421Ser) c.3154A>T (p.Thr1052Ser) n.1830+5651T>A c.7180A>T (p.Thr2394Ser) c.2932A>T (p.Thr978Ser) c.6160A>T (p.Thr2054Ser) | |
8 | g.99776828C>A | CA371875645 | VPS13B | c.7376C>A (p.Thr2459Lys) n.7446C>A c.*3058C>A (n.*3058C>A) c.7301C>A (p.Thr2434Lys) n.378-1854C>A c.7373C>A (p.Thr2458Lys) c.7298C>A (p.Thr2433Lys) c.6998C>A (p.Thr2333Lys) c.4262C>A (p.Thr1421Lys) c.3155C>A (p.Thr1052Lys) n.1830+5650G>T c.7181C>A (p.Thr2394Lys) c.2933C>A (p.Thr978Lys) c.6161C>A (p.Thr2054Lys) | |
8 | g.99776828C>G | CA371875646 | VPS13B | c.7376C>G (p.Thr2459Arg) n.7446C>G c.*3058C>G (n.*3058C>G) c.7301C>G (p.Thr2434Arg) n.378-1854C>G c.7373C>G (p.Thr2458Arg) c.7298C>G (p.Thr2433Arg) c.6998C>G (p.Thr2333Arg) c.4262C>G (p.Thr1421Arg) c.3155C>G (p.Thr1052Arg) n.1830+5650G>C c.7181C>G (p.Thr2394Arg) c.2933C>G (p.Thr978Arg) c.6161C>G (p.Thr2054Arg) | dbSNP gnomAD v4 |
8 | g.99776828C>T | CA371875647 | VPS13B | c.7376C>T (p.Thr2459Ile) n.7446C>T c.*3058C>T (n.*3058C>T) c.7301C>T (p.Thr2434Ile) n.378-1854C>T c.7373C>T (p.Thr2458Ile) c.7298C>T (p.Thr2433Ile) c.6998C>T (p.Thr2333Ile) c.4262C>T (p.Thr1421Ile) c.3155C>T (p.Thr1052Ile) n.1830+5650G>A c.7181C>T (p.Thr2394Ile) c.2933C>T (p.Thr978Ile) c.6161C>T (p.Thr2054Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776829A>C | CA462449167 | VPS13B | c.7377A>C (p.Thr2459=) n.7447A>C c.*3059A>C (n.*3059A>C) c.7302A>C (p.Thr2434=) n.378-1853A>C c.7374A>C (p.Thr2458=) c.7299A>C (p.Thr2433=) c.6999A>C (p.Thr2333=) c.4263A>C (p.Thr1421=) c.3156A>C (p.Thr1052=) n.1830+5649T>G c.7182A>C (p.Thr2394=) c.2934A>C (p.Thr978=) c.6162A>C (p.Thr2054=) | |
8 | g.99776829A>G | CA462449168 | VPS13B | c.7377A>G (p.Thr2459=) n.7447A>G c.*3059A>G (n.*3059A>G) c.7302A>G (p.Thr2434=) n.378-1853A>G c.7374A>G (p.Thr2458=) c.7299A>G (p.Thr2433=) c.6999A>G (p.Thr2333=) c.4263A>G (p.Thr1421=) c.3156A>G (p.Thr1052=) n.1830+5649T>C c.7182A>G (p.Thr2394=) c.2934A>G (p.Thr978=) c.6162A>G (p.Thr2054=) | ClinVar dbSNP |
8 | g.99776829A>T | CA462449169 | VPS13B | c.7377A>T (p.Thr2459=) n.7447A>T c.*3059A>T (n.*3059A>T) c.7302A>T (p.Thr2434=) n.378-1853A>T c.7374A>T (p.Thr2458=) c.7299A>T (p.Thr2433=) c.6999A>T (p.Thr2333=) c.4263A>T (p.Thr1421=) c.3156A>T (p.Thr1052=) n.1830+5649T>A c.7182A>T (p.Thr2394=) c.2934A>T (p.Thr978=) c.6162A>T (p.Thr2054=) | |
8 | g.99776830G>A | CA371875648 | VPS13B | c.7378G>A (p.Ala2460Thr) n.7448G>A c.*3060G>A (n.*3060G>A) c.7303G>A (p.Ala2435Thr) n.378-1852G>A c.7375G>A (p.Ala2459Thr) c.7300G>A (p.Ala2434Thr) c.7000G>A (p.Ala2334Thr) c.4264G>A (p.Ala1422Thr) c.3157G>A (p.Ala1053Thr) n.1830+5648C>T c.7183G>A (p.Ala2395Thr) c.2935G>A (p.Ala979Thr) c.6163G>A (p.Ala2055Thr) | gnomAD v4 |
8 | g.99776830G>C | CA371875649 | VPS13B | c.7378G>C (p.Ala2460Pro) n.7448G>C c.*3060G>C (n.*3060G>C) c.7303G>C (p.Ala2435Pro) n.378-1852G>C c.7375G>C (p.Ala2459Pro) c.7300G>C (p.Ala2434Pro) c.7000G>C (p.Ala2334Pro) c.4264G>C (p.Ala1422Pro) c.3157G>C (p.Ala1053Pro) n.1830+5648C>G c.7183G>C (p.Ala2395Pro) c.2935G>C (p.Ala979Pro) c.6163G>C (p.Ala2055Pro) | |
8 | g.99776830G>T | CA371875650 | VPS13B | c.7378G>T (p.Ala2460Ser) n.7448G>T c.*3060G>T (n.*3060G>T) c.7303G>T (p.Ala2435Ser) n.378-1852G>T c.7375G>T (p.Ala2459Ser) c.7300G>T (p.Ala2434Ser) c.7000G>T (p.Ala2334Ser) c.4264G>T (p.Ala1422Ser) c.3157G>T (p.Ala1053Ser) n.1830+5648C>A c.7183G>T (p.Ala2395Ser) c.2935G>T (p.Ala979Ser) c.6163G>T (p.Ala2055Ser) | |
8 | g.99776831C>A | CA371875651 | VPS13B | c.7379C>A (p.Ala2460Asp) n.7449C>A c.*3061C>A (n.*3061C>A) c.7304C>A (p.Ala2435Asp) n.378-1851C>A c.7376C>A (p.Ala2459Asp) c.7301C>A (p.Ala2434Asp) c.7001C>A (p.Ala2334Asp) c.4265C>A (p.Ala1422Asp) c.3158C>A (p.Ala1053Asp) n.1830+5647G>T c.7184C>A (p.Ala2395Asp) c.2936C>A (p.Ala979Asp) c.6164C>A (p.Ala2055Asp) | |
8 | g.99776831C>G | CA371875652 | VPS13B | c.7379C>G (p.Ala2460Gly) n.7449C>G c.*3061C>G (n.*3061C>G) c.7304C>G (p.Ala2435Gly) n.378-1851C>G c.7376C>G (p.Ala2459Gly) c.7301C>G (p.Ala2434Gly) c.7001C>G (p.Ala2334Gly) c.4265C>G (p.Ala1422Gly) c.3158C>G (p.Ala1053Gly) n.1830+5647G>C c.7184C>G (p.Ala2395Gly) c.2936C>G (p.Ala979Gly) c.6164C>G (p.Ala2055Gly) | |
8 | g.99776831C>T | CA4824190 | VPS13B | c.7379C>T (p.Ala2460Val) n.7449C>T c.*3061C>T (n.*3061C>T) c.7304C>T (p.Ala2435Val) n.378-1851C>T c.7376C>T (p.Ala2459Val) c.7301C>T (p.Ala2434Val) c.7001C>T (p.Ala2334Val) c.4265C>T (p.Ala1422Val) c.3158C>T (p.Ala1053Val) n.1830+5647G>A c.7184C>T (p.Ala2395Val) c.2936C>T (p.Ala979Val) c.6164C>T (p.Ala2055Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776832C>A | CA183041719 | VPS13B | c.7380C>A (p.Ala2460=) n.7450C>A c.*3062C>A (n.*3062C>A) c.7305C>A (p.Ala2435=) n.378-1850C>A c.7377C>A (p.Ala2459=) c.7302C>A (p.Ala2434=) c.7002C>A (p.Ala2334=) c.4266C>A (p.Ala1422=) c.3159C>A (p.Ala1053=) n.1830+5646G>T c.7185C>A (p.Ala2395=) c.2937C>A (p.Ala979=) c.6165C>A (p.Ala2055=) | dbSNP |
8 | g.99776832C>G | CA462449170 | VPS13B | c.7380C>G (p.Ala2460=) n.7450C>G c.*3062C>G (n.*3062C>G) c.7305C>G (p.Ala2435=) n.378-1850C>G c.7377C>G (p.Ala2459=) c.7302C>G (p.Ala2434=) c.7002C>G (p.Ala2334=) c.4266C>G (p.Ala1422=) c.3159C>G (p.Ala1053=) n.1830+5646G>C c.7185C>G (p.Ala2395=) c.2937C>G (p.Ala979=) c.6165C>G (p.Ala2055=) | |
8 | g.99776832C>T | CA462449171 | VPS13B | c.7380C>T (p.Ala2460=) n.7450C>T c.*3062C>T (n.*3062C>T) c.7305C>T (p.Ala2435=) n.378-1850C>T c.7377C>T (p.Ala2459=) c.7302C>T (p.Ala2434=) c.7002C>T (p.Ala2334=) c.4266C>T (p.Ala1422=) c.3159C>T (p.Ala1053=) n.1830+5646G>A c.7185C>T (p.Ala2395=) c.2937C>T (p.Ala979=) c.6165C>T (p.Ala2055=) | ClinVar gnomAD v4 |
8 | g.99776833C>A | CA371875654 | VPS13B | c.7381C>A (p.Leu2461Met) n.7451C>A c.*3063C>A (n.*3063C>A) c.7306C>A (p.Leu2436Met) n.378-1849C>A c.7378C>A (p.Leu2460Met) c.7303C>A (p.Leu2435Met) c.7003C>A (p.Leu2335Met) c.4267C>A (p.Leu1423Met) c.3160C>A (p.Leu1054Met) n.1830+5645G>T c.7186C>A (p.Leu2396Met) c.2938C>A (p.Leu980Met) c.6166C>A (p.Leu2056Met) | |
8 | g.99776833C>G | CA371875653 | VPS13B | c.7381C>G (p.Leu2461Val) n.7451C>G c.*3063C>G (n.*3063C>G) c.7306C>G (p.Leu2436Val) n.378-1849C>G c.7378C>G (p.Leu2460Val) c.7303C>G (p.Leu2435Val) c.7003C>G (p.Leu2335Val) c.4267C>G (p.Leu1423Val) c.3160C>G (p.Leu1054Val) n.1830+5645G>C c.7186C>G (p.Leu2396Val) c.2938C>G (p.Leu980Val) c.6166C>G (p.Leu2056Val) | |
8 | g.99776833C>T | CA4824191 | VPS13B | c.7381C>T (p.Leu2461=) n.7451C>T c.*3063C>T (n.*3063C>T) c.7306C>T (p.Leu2436=) n.378-1849C>T c.7378C>T (p.Leu2460=) c.7303C>T (p.Leu2435=) c.7003C>T (p.Leu2335=) c.4267C>T (p.Leu1423=) c.3160C>T (p.Leu1054=) n.1830+5645G>A c.7186C>T (p.Leu2396=) c.2938C>T (p.Leu980=) c.6166C>T (p.Leu2056=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776834T>A | CA371875655 | VPS13B | c.7382T>A (p.Leu2461Gln) n.7452T>A c.*3064T>A (n.*3064T>A) c.7307T>A (p.Leu2436Gln) n.378-1848T>A c.7379T>A (p.Leu2460Gln) c.7304T>A (p.Leu2435Gln) c.7004T>A (p.Leu2335Gln) c.4268T>A (p.Leu1423Gln) c.3161T>A (p.Leu1054Gln) n.1830+5644A>T c.7187T>A (p.Leu2396Gln) c.2939T>A (p.Leu980Gln) c.6167T>A (p.Leu2056Gln) | |
8 | g.99776834T>C | CA371875656 | VPS13B | c.7382T>C (p.Leu2461Pro) n.7452T>C c.*3064T>C (n.*3064T>C) c.7307T>C (p.Leu2436Pro) n.378-1848T>C c.7379T>C (p.Leu2460Pro) c.7304T>C (p.Leu2435Pro) c.7004T>C (p.Leu2335Pro) c.4268T>C (p.Leu1423Pro) c.3161T>C (p.Leu1054Pro) n.1830+5644A>G c.7187T>C (p.Leu2396Pro) c.2939T>C (p.Leu980Pro) c.6167T>C (p.Leu2056Pro) | |
8 | g.99776834T>G | CA371875657 | VPS13B | c.7382T>G (p.Leu2461Arg) n.7452T>G c.*3064T>G (n.*3064T>G) c.7307T>G (p.Leu2436Arg) n.378-1848T>G c.7379T>G (p.Leu2460Arg) c.7304T>G (p.Leu2435Arg) c.7004T>G (p.Leu2335Arg) c.4268T>G (p.Leu1423Arg) c.3161T>G (p.Leu1054Arg) n.1830+5644A>C c.7187T>G (p.Leu2396Arg) c.2939T>G (p.Leu980Arg) c.6167T>G (p.Leu2056Arg) | |
8 | g.99776835G>A | CA462449172 | VPS13B | c.7383G>A (p.Leu2461=) n.7453G>A c.*3065G>A (n.*3065G>A) c.7308G>A (p.Leu2436=) n.378-1847G>A c.7380G>A (p.Leu2460=) c.7305G>A (p.Leu2435=) c.7005G>A (p.Leu2335=) c.4269G>A (p.Leu1423=) c.3162G>A (p.Leu1054=) n.1830+5643C>T c.7188G>A (p.Leu2396=) c.2940G>A (p.Leu980=) c.6168G>A (p.Leu2056=) | gnomAD v4 |
8 | g.99776835G>C | CA462449174 | VPS13B | c.7383G>C (p.Leu2461=) n.7453G>C c.*3065G>C (n.*3065G>C) c.7308G>C (p.Leu2436=) n.378-1847G>C c.7380G>C (p.Leu2460=) c.7305G>C (p.Leu2435=) c.7005G>C (p.Leu2335=) c.4269G>C (p.Leu1423=) c.3162G>C (p.Leu1054=) n.1830+5643C>G c.7188G>C (p.Leu2396=) c.2940G>C (p.Leu980=) c.6168G>C (p.Leu2056=) | |
8 | g.99776835G>T | CA462449173 | VPS13B | c.7383G>T (p.Leu2461=) n.7453G>T c.*3065G>T (n.*3065G>T) c.7308G>T (p.Leu2436=) n.378-1847G>T c.7380G>T (p.Leu2460=) c.7305G>T (p.Leu2435=) c.7005G>T (p.Leu2335=) c.4269G>T (p.Leu1423=) c.3162G>T (p.Leu1054=) n.1830+5643C>A c.7188G>T (p.Leu2396=) c.2940G>T (p.Leu980=) c.6168G>T (p.Leu2056=) | ClinVar |
8 | g.99776836G>A | CA371875658 | VPS13B | c.7384G>A (p.Ala2462Thr) n.7454G>A c.*3066G>A (n.*3066G>A) c.7309G>A (p.Ala2437Thr) n.378-1846G>A c.7381G>A (p.Ala2461Thr) c.7306G>A (p.Ala2436Thr) c.7006G>A (p.Ala2336Thr) c.4270G>A (p.Ala1424Thr) c.3163G>A (p.Ala1055Thr) n.1830+5642C>T c.7189G>A (p.Ala2397Thr) c.2941G>A (p.Ala981Thr) c.6169G>A (p.Ala2057Thr) | |
8 | g.99776836G>C | CA371875659 | VPS13B | c.7384G>C (p.Ala2462Pro) n.7454G>C c.*3066G>C (n.*3066G>C) c.7309G>C (p.Ala2437Pro) n.378-1846G>C c.7381G>C (p.Ala2461Pro) c.7306G>C (p.Ala2436Pro) c.7006G>C (p.Ala2336Pro) c.4270G>C (p.Ala1424Pro) c.3163G>C (p.Ala1055Pro) n.1830+5642C>G c.7189G>C (p.Ala2397Pro) c.2941G>C (p.Ala981Pro) c.6169G>C (p.Ala2057Pro) | |
8 | g.99776836G>T | CA371875660 | VPS13B | c.7384G>T (p.Ala2462Ser) n.7454G>T c.*3066G>T (n.*3066G>T) c.7309G>T (p.Ala2437Ser) n.378-1846G>T c.7381G>T (p.Ala2461Ser) c.7306G>T (p.Ala2436Ser) c.7006G>T (p.Ala2336Ser) c.4270G>T (p.Ala1424Ser) c.3163G>T (p.Ala1055Ser) n.1830+5642C>A c.7189G>T (p.Ala2397Ser) c.2941G>T (p.Ala981Ser) c.6169G>T (p.Ala2057Ser) | |
8 | g.99776837C>A | CA371875661 | VPS13B | c.7385C>A (p.Ala2462Asp) n.7455C>A c.*3067C>A (n.*3067C>A) c.7310C>A (p.Ala2437Asp) n.378-1845C>A c.7382C>A (p.Ala2461Asp) c.7307C>A (p.Ala2436Asp) c.7007C>A (p.Ala2336Asp) c.4271C>A (p.Ala1424Asp) c.3164C>A (p.Ala1055Asp) n.1830+5641G>T c.7190C>A (p.Ala2397Asp) c.2942C>A (p.Ala981Asp) c.6170C>A (p.Ala2057Asp) | |
8 | g.99776837C>G | CA371875662 | VPS13B | c.7385C>G (p.Ala2462Gly) n.7455C>G c.*3067C>G (n.*3067C>G) c.7310C>G (p.Ala2437Gly) n.378-1845C>G c.7382C>G (p.Ala2461Gly) c.7307C>G (p.Ala2436Gly) c.7007C>G (p.Ala2336Gly) c.4271C>G (p.Ala1424Gly) c.3164C>G (p.Ala1055Gly) n.1830+5641G>C c.7190C>G (p.Ala2397Gly) c.2942C>G (p.Ala981Gly) c.6170C>G (p.Ala2057Gly) | gnomAD v4 |
8 | g.99776837C>T | CA371875663 | VPS13B | c.7385C>T (p.Ala2462Val) n.7455C>T c.*3067C>T (n.*3067C>T) c.7310C>T (p.Ala2437Val) n.378-1845C>T c.7382C>T (p.Ala2461Val) c.7307C>T (p.Ala2436Val) c.7007C>T (p.Ala2336Val) c.4271C>T (p.Ala1424Val) c.3164C>T (p.Ala1055Val) n.1830+5641G>A c.7190C>T (p.Ala2397Val) c.2942C>T (p.Ala981Val) c.6170C>T (p.Ala2057Val) | gnomAD v4 |
8 | g.99776838T>A | CA462449175 | VPS13B | c.7386T>A (p.Ala2462=) n.7456T>A c.*3068T>A (n.*3068T>A) c.7311T>A (p.Ala2437=) n.378-1844T>A c.7383T>A (p.Ala2461=) c.7308T>A (p.Ala2436=) c.7008T>A (p.Ala2336=) c.4272T>A (p.Ala1424=) c.3165T>A (p.Ala1055=) n.1830+5640A>T c.7191T>A (p.Ala2397=) c.2943T>A (p.Ala981=) c.6171T>A (p.Ala2057=) | |
8 | g.99776838T>C | CA462449176 | VPS13B | c.7386T>C (p.Ala2462=) n.7456T>C c.*3068T>C (n.*3068T>C) c.7311T>C (p.Ala2437=) n.378-1844T>C c.7383T>C (p.Ala2461=) c.7308T>C (p.Ala2436=) c.7008T>C (p.Ala2336=) c.4272T>C (p.Ala1424=) c.3165T>C (p.Ala1055=) n.1830+5640A>G c.7191T>C (p.Ala2397=) c.2943T>C (p.Ala981=) c.6171T>C (p.Ala2057=) | |
8 | g.99776838T>G | CA462449177 | VPS13B | c.7386T>G (p.Ala2462=) n.7456T>G c.*3068T>G (n.*3068T>G) c.7311T>G (p.Ala2437=) n.378-1844T>G c.7383T>G (p.Ala2461=) c.7308T>G (p.Ala2436=) c.7008T>G (p.Ala2336=) c.4272T>G (p.Ala1424=) c.3165T>G (p.Ala1055=) n.1830+5640A>C c.7191T>G (p.Ala2397=) c.2943T>G (p.Ala981=) c.6171T>G (p.Ala2057=) | ClinVar dbSNP |
8 | g.99776838_99776839insAGGCA | CA915946659 | VPS13B | c.7386_7387insAGGCA (p.Ala2463ArgfsTer?) n.7456_7457insAGGCA c.*3068_*3069insAGGCA (n.*3068_*3069insAGGCA) c.7311_7312insAGGCA (p.Ala2438ArgfsTer?) n.378-1844_378-1843insAGGCA c.7383_7384insAGGCA (p.Ala2462ArgfsTer?) c.7308_7309insAGGCA (p.Ala2437ArgfsTer?) c.7008_7009insAGGCA (p.Ala2337ArgfsTer?) c.4272_4273insAGGCA (p.Ala1425ArgfsTer?) c.3165_3166insAGGCA (p.Ala1056ArgfsTer?) n.1830+5639_1830+5640insTGCCT c.7191_7192insAGGCA (p.Ala2398ArgfsTer?) c.2943_2944insAGGCA (p.Ala982ArgfsTer?) c.6171_6172insAGGCA (p.Ala2058ArgfsTer?) | ClinVar dbSNP |
8 | g.99776839G>A | CA371875664 | VPS13B | c.7387G>A (p.Ala2463Thr) n.7457G>A c.*3069G>A (n.*3069G>A) c.7312G>A (p.Ala2438Thr) n.378-1843G>A c.7384G>A (p.Ala2462Thr) c.7309G>A (p.Ala2437Thr) c.7009G>A (p.Ala2337Thr) c.4273G>A (p.Ala1425Thr) c.3166G>A (p.Ala1056Thr) n.1830+5639C>T c.7192G>A (p.Ala2398Thr) c.2944G>A (p.Ala982Thr) c.6172G>A (p.Ala2058Thr) | gnomAD v4 |
8 | g.99776839G>C | CA371875665 | VPS13B | c.7387G>C (p.Ala2463Pro) n.7457G>C c.*3069G>C (n.*3069G>C) c.7312G>C (p.Ala2438Pro) n.378-1843G>C c.7384G>C (p.Ala2462Pro) c.7309G>C (p.Ala2437Pro) c.7009G>C (p.Ala2337Pro) c.4273G>C (p.Ala1425Pro) c.3166G>C (p.Ala1056Pro) n.1830+5639C>G c.7192G>C (p.Ala2398Pro) c.2944G>C (p.Ala982Pro) c.6172G>C (p.Ala2058Pro) | |
8 | g.99776839G>T | CA371875666 | VPS13B | c.7387G>T (p.Ala2463Ser) n.7457G>T c.*3069G>T (n.*3069G>T) c.7312G>T (p.Ala2438Ser) n.378-1843G>T c.7384G>T (p.Ala2462Ser) c.7309G>T (p.Ala2437Ser) c.7009G>T (p.Ala2337Ser) c.4273G>T (p.Ala1425Ser) c.3166G>T (p.Ala1056Ser) n.1830+5639C>A c.7192G>T (p.Ala2398Ser) c.2944G>T (p.Ala982Ser) c.6172G>T (p.Ala2058Ser) | gnomAD v4 |
8 | g.99776839dup | CA913128137 | VPS13B | c.7387dup (p.Ala2463GlyfsTer6) n.7457dup c.*3069dup (n.*3069dup) c.7312dup (p.Ala2438GlyfsTer6) n.378-1843dup c.7384dup (p.Ala2462GlyfsTer6) c.7309dup (p.Ala2437GlyfsTer6) c.7009dup (p.Ala2337GlyfsTer6) c.4273dup (p.Ala1425GlyfsTer6) c.3166dup (p.Ala1056GlyfsTer6) n.1830+5639dup c.7192dup (p.Ala2398GlyfsTer6) c.2944dup (p.Ala982GlyfsTer6) c.6172dup (p.Ala2058GlyfsTer6) | |
8 | g.99776840C>A | CA371875669 | VPS13B | c.7388C>A (p.Ala2463Asp) n.7458C>A c.*3070C>A (n.*3070C>A) c.7313C>A (p.Ala2438Asp) n.378-1842C>A c.7385C>A (p.Ala2462Asp) c.7310C>A (p.Ala2437Asp) c.7010C>A (p.Ala2337Asp) c.4274C>A (p.Ala1425Asp) c.3167C>A (p.Ala1056Asp) n.1830+5638G>T c.7193C>A (p.Ala2398Asp) c.2945C>A (p.Ala982Asp) c.6173C>A (p.Ala2058Asp) | |
8 | g.99776840C>G | CA371875667 | VPS13B | c.7388C>G (p.Ala2463Gly) n.7458C>G c.*3070C>G (n.*3070C>G) c.7313C>G (p.Ala2438Gly) n.378-1842C>G c.7385C>G (p.Ala2462Gly) c.7310C>G (p.Ala2437Gly) c.7010C>G (p.Ala2337Gly) c.4274C>G (p.Ala1425Gly) c.3167C>G (p.Ala1056Gly) n.1830+5638G>C c.7193C>G (p.Ala2398Gly) c.2945C>G (p.Ala982Gly) c.6173C>G (p.Ala2058Gly) | |
8 | g.99776840C>T | CA371875668 | VPS13B | c.7388C>T (p.Ala2463Val) n.7458C>T c.*3070C>T (n.*3070C>T) c.7313C>T (p.Ala2438Val) n.378-1842C>T c.7385C>T (p.Ala2462Val) c.7310C>T (p.Ala2437Val) c.7010C>T (p.Ala2337Val) c.4274C>T (p.Ala1425Val) c.3167C>T (p.Ala1056Val) n.1830+5638G>A c.7193C>T (p.Ala2398Val) c.2945C>T (p.Ala982Val) c.6173C>T (p.Ala2058Val) | |
8 | g.99776841dup | CA658821174 | VPS13B | c.7389dup (p.Cys2464LeufsTer5) n.7459dup c.*3071dup (n.*3071dup) c.7314dup (p.Cys2439LeufsTer5) n.378-1841dup c.7386dup (p.Cys2463LeufsTer5) c.7311dup (p.Cys2438LeufsTer5) c.7011dup (p.Cys2338LeufsTer5) c.4275dup (p.Cys1426LeufsTer5) c.3168dup (p.Cys1057LeufsTer5) n.1830+5638dup c.7194dup (p.Cys2399LeufsTer5) c.2946dup (p.Cys983LeufsTer5) c.6174dup (p.Cys2059LeufsTer5) | ClinVar dbSNP gnomAD v4 |
8 | g.99776841C>A | CA462449178 | VPS13B | c.7389C>A (p.Ala2463=) n.7459C>A c.*3071C>A (n.*3071C>A) c.7314C>A (p.Ala2438=) n.378-1841C>A c.7386C>A (p.Ala2462=) c.7311C>A (p.Ala2437=) c.7011C>A (p.Ala2337=) c.4275C>A (p.Ala1425=) c.3168C>A (p.Ala1056=) n.1830+5637G>T c.7194C>A (p.Ala2398=) c.2946C>A (p.Ala982=) c.6174C>A (p.Ala2058=) | |
8 | g.99776841C>G | CA462449179 | VPS13B | c.7389C>G (p.Ala2463=) n.7459C>G c.*3071C>G (n.*3071C>G) c.7314C>G (p.Ala2438=) n.378-1841C>G c.7386C>G (p.Ala2462=) c.7311C>G (p.Ala2437=) c.7011C>G (p.Ala2337=) c.4275C>G (p.Ala1425=) c.3168C>G (p.Ala1056=) n.1830+5637G>C c.7194C>G (p.Ala2398=) c.2946C>G (p.Ala982=) c.6174C>G (p.Ala2058=) | |
8 | g.99776841C>T | CA462449180 | VPS13B | c.7389C>T (p.Ala2463=) n.7459C>T c.*3071C>T (n.*3071C>T) c.7314C>T (p.Ala2438=) n.378-1841C>T c.7386C>T (p.Ala2462=) c.7311C>T (p.Ala2437=) c.7011C>T (p.Ala2337=) c.4275C>T (p.Ala1425=) c.3168C>T (p.Ala1056=) n.1830+5637G>A c.7194C>T (p.Ala2398=) c.2946C>T (p.Ala982=) c.6174C>T (p.Ala2058=) | |
8 | g.99776842T>A | CA371875670 | VPS13B | c.7390T>A (p.Cys2464Ser) n.7460T>A c.*3072T>A (n.*3072T>A) c.7315T>A (p.Cys2439Ser) n.378-1840T>A c.7387T>A (p.Cys2463Ser) c.7312T>A (p.Cys2438Ser) c.7012T>A (p.Cys2338Ser) c.4276T>A (p.Cys1426Ser) c.3169T>A (p.Cys1057Ser) n.1830+5636A>T c.7195T>A (p.Cys2399Ser) c.2947T>A (p.Cys983Ser) c.6175T>A (p.Cys2059Ser) | |
8 | g.99776842T>C | CA371875671 | VPS13B | c.7390T>C (p.Cys2464Arg) n.7460T>C c.*3072T>C (n.*3072T>C) c.7315T>C (p.Cys2439Arg) n.378-1840T>C c.7387T>C (p.Cys2463Arg) c.7312T>C (p.Cys2438Arg) c.7012T>C (p.Cys2338Arg) c.4276T>C (p.Cys1426Arg) c.3169T>C (p.Cys1057Arg) n.1830+5636A>G c.7195T>C (p.Cys2399Arg) c.2947T>C (p.Cys983Arg) c.6175T>C (p.Cys2059Arg) | |
8 | g.99776842T>G | CA371875672 | VPS13B | c.7390T>G (p.Cys2464Gly) n.7460T>G c.*3072T>G (n.*3072T>G) c.7315T>G (p.Cys2439Gly) n.378-1840T>G c.7387T>G (p.Cys2463Gly) c.7312T>G (p.Cys2438Gly) c.7012T>G (p.Cys2338Gly) c.4276T>G (p.Cys1426Gly) c.3169T>G (p.Cys1057Gly) n.1830+5636A>C c.7195T>G (p.Cys2399Gly) c.2947T>G (p.Cys983Gly) c.6175T>G (p.Cys2059Gly) | |
8 | g.99776843G>A | CA371875673 | VPS13B | c.7391G>A (p.Cys2464Tyr) n.7461G>A c.*3073G>A (n.*3073G>A) c.7316G>A (p.Cys2439Tyr) n.378-1839G>A c.7388G>A (p.Cys2463Tyr) c.7313G>A (p.Cys2438Tyr) c.7013G>A (p.Cys2338Tyr) c.4277G>A (p.Cys1426Tyr) c.3170G>A (p.Cys1057Tyr) n.1830+5635C>T c.7196G>A (p.Cys2399Tyr) c.2948G>A (p.Cys983Tyr) c.6176G>A (p.Cys2059Tyr) | dbSNP |
8 | g.99776843G>C | CA371875674 | VPS13B | c.7391G>C (p.Cys2464Ser) n.7461G>C c.*3073G>C (n.*3073G>C) c.7316G>C (p.Cys2439Ser) n.378-1839G>C c.7388G>C (p.Cys2463Ser) c.7313G>C (p.Cys2438Ser) c.7013G>C (p.Cys2338Ser) c.4277G>C (p.Cys1426Ser) c.3170G>C (p.Cys1057Ser) n.1830+5635C>G c.7196G>C (p.Cys2399Ser) c.2948G>C (p.Cys983Ser) c.6176G>C (p.Cys2059Ser) | |
8 | g.99776843G>T | CA371875675 | VPS13B | c.7391G>T (p.Cys2464Phe) n.7461G>T c.*3073G>T (n.*3073G>T) c.7316G>T (p.Cys2439Phe) n.378-1839G>T c.7388G>T (p.Cys2463Phe) c.7313G>T (p.Cys2438Phe) c.7013G>T (p.Cys2338Phe) c.4277G>T (p.Cys1426Phe) c.3170G>T (p.Cys1057Phe) n.1830+5635C>A c.7196G>T (p.Cys2399Phe) c.2948G>T (p.Cys983Phe) c.6176G>T (p.Cys2059Phe) | |
8 | g.99776844T>A | CA371875676 | VPS13B | c.7392T>A (p.Cys2464Ter) n.7462T>A c.*3074T>A (n.*3074T>A) c.7317T>A (p.Cys2439Ter) n.378-1838T>A c.7389T>A (p.Cys2463Ter) c.7314T>A (p.Cys2438Ter) c.7014T>A (p.Cys2338Ter) c.4278T>A (p.Cys1426Ter) c.3171T>A (p.Cys1057Ter) n.1830+5634A>T c.7197T>A (p.Cys2399Ter) c.2949T>A (p.Cys983Ter) c.6177T>A (p.Cys2059Ter) | ClinVar |
8 | g.99776844T>C | CA462449181 | VPS13B | c.7392T>C (p.Cys2464=) n.7462T>C c.*3074T>C (n.*3074T>C) c.7317T>C (p.Cys2439=) n.378-1838T>C c.7389T>C (p.Cys2463=) c.7314T>C (p.Cys2438=) c.7014T>C (p.Cys2338=) c.4278T>C (p.Cys1426=) c.3171T>C (p.Cys1057=) n.1830+5634A>G c.7197T>C (p.Cys2399=) c.2949T>C (p.Cys983=) c.6177T>C (p.Cys2059=) | |
8 | g.99776844T>G | CA371875677 | VPS13B | c.7392T>G (p.Cys2464Trp) n.7462T>G c.*3074T>G (n.*3074T>G) c.7317T>G (p.Cys2439Trp) n.378-1838T>G c.7389T>G (p.Cys2463Trp) c.7314T>G (p.Cys2438Trp) c.7014T>G (p.Cys2338Trp) c.4278T>G (p.Cys1426Trp) c.3171T>G (p.Cys1057Trp) n.1830+5634A>C c.7197T>G (p.Cys2399Trp) c.2949T>G (p.Cys983Trp) c.6177T>G (p.Cys2059Trp) | |
8 | g.99776845A>C | CA371875678 | VPS13B | c.7393A>C (p.Thr2465Pro) n.7463A>C c.*3075A>C (n.*3075A>C) c.7318A>C (p.Thr2440Pro) n.378-1837A>C c.7390A>C (p.Thr2464Pro) c.7315A>C (p.Thr2439Pro) c.7015A>C (p.Thr2339Pro) c.4279A>C (p.Thr1427Pro) c.3172A>C (p.Thr1058Pro) n.1830+5633T>G c.7198A>C (p.Thr2400Pro) c.2950A>C (p.Thr984Pro) c.6178A>C (p.Thr2060Pro) | |
8 | g.99776845A>G | CA371875679 | VPS13B | c.7393A>G (p.Thr2465Ala) n.7463A>G c.*3075A>G (n.*3075A>G) c.7318A>G (p.Thr2440Ala) n.378-1837A>G c.7390A>G (p.Thr2464Ala) c.7315A>G (p.Thr2439Ala) c.7015A>G (p.Thr2339Ala) c.4279A>G (p.Thr1427Ala) c.3172A>G (p.Thr1058Ala) n.1830+5633T>C c.7198A>G (p.Thr2400Ala) c.2950A>G (p.Thr984Ala) c.6178A>G (p.Thr2060Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776845A>T | CA371875680 | VPS13B | c.7393A>T (p.Thr2465Ser) n.7463A>T c.*3075A>T (n.*3075A>T) c.7318A>T (p.Thr2440Ser) n.378-1837A>T c.7390A>T (p.Thr2464Ser) c.7315A>T (p.Thr2439Ser) c.7015A>T (p.Thr2339Ser) c.4279A>T (p.Thr1427Ser) c.3172A>T (p.Thr1058Ser) n.1830+5633T>A c.7198A>T (p.Thr2400Ser) c.2950A>T (p.Thr984Ser) c.6178A>T (p.Thr2060Ser) | |
8 | g.99776846C>A | CA371875681 | VPS13B | c.7394C>A (p.Thr2465Asn) n.7464C>A c.*3076C>A (n.*3076C>A) c.7319C>A (p.Thr2440Asn) n.378-1836C>A c.7391C>A (p.Thr2464Asn) c.7316C>A (p.Thr2439Asn) c.7016C>A (p.Thr2339Asn) c.4280C>A (p.Thr1427Asn) c.3173C>A (p.Thr1058Asn) n.1830+5632G>T c.7199C>A (p.Thr2400Asn) c.2951C>A (p.Thr984Asn) c.6179C>A (p.Thr2060Asn) | gnomAD v4 |
8 | g.99776846C>G | CA371875682 | VPS13B | c.7394C>G (p.Thr2465Ser) n.7464C>G c.*3076C>G (n.*3076C>G) c.7319C>G (p.Thr2440Ser) n.378-1836C>G c.7391C>G (p.Thr2464Ser) c.7316C>G (p.Thr2439Ser) c.7016C>G (p.Thr2339Ser) c.4280C>G (p.Thr1427Ser) c.3173C>G (p.Thr1058Ser) n.1830+5632G>C c.7199C>G (p.Thr2400Ser) c.2951C>G (p.Thr984Ser) c.6179C>G (p.Thr2060Ser) | gnomAD v4 |
8 | g.99776846C>T | CA4824192 | VPS13B | c.7394C>T (p.Thr2465Ile) n.7464C>T c.*3076C>T (n.*3076C>T) c.7319C>T (p.Thr2440Ile) n.378-1836C>T c.7391C>T (p.Thr2464Ile) c.7316C>T (p.Thr2439Ile) c.7016C>T (p.Thr2339Ile) c.4280C>T (p.Thr1427Ile) c.3173C>T (p.Thr1058Ile) n.1830+5632G>A c.7199C>T (p.Thr2400Ile) c.2951C>T (p.Thr984Ile) c.6179C>T (p.Thr2060Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776847C>A | CA462449182 | VPS13B | c.7395C>A (p.Thr2465=) n.7465C>A c.*3077C>A (n.*3077C>A) c.7320C>A (p.Thr2440=) n.378-1835C>A c.7392C>A (p.Thr2464=) c.7317C>A (p.Thr2439=) c.7017C>A (p.Thr2339=) c.4281C>A (p.Thr1427=) c.3174C>A (p.Thr1058=) n.1830+5631G>T c.7200C>A (p.Thr2400=) c.2952C>A (p.Thr984=) c.6180C>A (p.Thr2060=) | |
8 | g.99776847C>G | CA462449183 | VPS13B | c.7395C>G (p.Thr2465=) n.7465C>G c.*3077C>G (n.*3077C>G) c.7320C>G (p.Thr2440=) n.378-1835C>G c.7392C>G (p.Thr2464=) c.7317C>G (p.Thr2439=) c.7017C>G (p.Thr2339=) c.4281C>G (p.Thr1427=) c.3174C>G (p.Thr1058=) n.1830+5631G>C c.7200C>G (p.Thr2400=) c.2952C>G (p.Thr984=) c.6180C>G (p.Thr2060=) | |
8 | g.99776847C>T | CA462449184 | VPS13B | c.7395C>T (p.Thr2465=) n.7465C>T c.*3077C>T (n.*3077C>T) c.7320C>T (p.Thr2440=) n.378-1835C>T c.7392C>T (p.Thr2464=) c.7317C>T (p.Thr2439=) c.7017C>T (p.Thr2339=) c.4281C>T (p.Thr1427=) c.3174C>T (p.Thr1058=) n.1830+5631G>A c.7200C>T (p.Thr2400=) c.2952C>T (p.Thr984=) c.6180C>T (p.Thr2060=) | |
8 | g.99776848A>C | CA462449185 | VPS13B | c.7396A>C (p.Arg2466=) n.7466A>C c.*3078A>C (n.*3078A>C) c.7321A>C (p.Arg2441=) n.378-1834A>C c.7393A>C (p.Arg2465=) c.7318A>C (p.Arg2440=) c.7018A>C (p.Arg2340=) c.4282A>C (p.Arg1428=) c.3175A>C (p.Arg1059=) n.1830+5630T>G c.7201A>C (p.Arg2401=) c.2953A>C (p.Arg985=) c.6181A>C (p.Arg2061=) | |
8 | g.99776848A>G | CA371875683 | VPS13B | c.7396A>G (p.Arg2466Gly) n.7466A>G c.*3078A>G (n.*3078A>G) c.7321A>G (p.Arg2441Gly) n.378-1834A>G c.7393A>G (p.Arg2465Gly) c.7318A>G (p.Arg2440Gly) c.7018A>G (p.Arg2340Gly) c.4282A>G (p.Arg1428Gly) c.3175A>G (p.Arg1059Gly) n.1830+5630T>C c.7201A>G (p.Arg2401Gly) c.2953A>G (p.Arg985Gly) c.6181A>G (p.Arg2061Gly) | |
8 | g.99776848A>T | CA371875684 | VPS13B | c.7396A>T (p.Arg2466Ter) n.7466A>T c.*3078A>T (n.*3078A>T) c.7321A>T (p.Arg2441Ter) n.378-1834A>T c.7393A>T (p.Arg2465Ter) c.7318A>T (p.Arg2440Ter) c.7018A>T (p.Arg2340Ter) c.4282A>T (p.Arg1428Ter) c.3175A>T (p.Arg1059Ter) n.1830+5630T>A c.7201A>T (p.Arg2401Ter) c.2953A>T (p.Arg985Ter) c.6181A>T (p.Arg2061Ter) | |
8 | g.99776849G>A | CA371875685 | VPS13B | c.7397G>A (p.Arg2466Lys) n.7467G>A c.*3079G>A (n.*3079G>A) c.7322G>A (p.Arg2441Lys) n.378-1833G>A c.7394G>A (p.Arg2465Lys) c.7319G>A (p.Arg2440Lys) c.7019G>A (p.Arg2340Lys) c.4283G>A (p.Arg1428Lys) c.3176G>A (p.Arg1059Lys) n.1830+5629C>T c.7202G>A (p.Arg2401Lys) c.2954G>A (p.Arg985Lys) c.6182G>A (p.Arg2061Lys) | |
8 | g.99776849G>C | CA371875686 | VPS13B | c.7397G>C (p.Arg2466Thr) n.7467G>C c.*3079G>C (n.*3079G>C) c.7322G>C (p.Arg2441Thr) n.378-1833G>C c.7394G>C (p.Arg2465Thr) c.7319G>C (p.Arg2440Thr) c.7019G>C (p.Arg2340Thr) c.4283G>C (p.Arg1428Thr) c.3176G>C (p.Arg1059Thr) n.1830+5629C>G c.7202G>C (p.Arg2401Thr) c.2954G>C (p.Arg985Thr) c.6182G>C (p.Arg2061Thr) | gnomAD v4 |
8 | g.99776849G>T | CA371875687 | VPS13B | c.7397G>T (p.Arg2466Ile) n.7467G>T c.*3079G>T (n.*3079G>T) c.7322G>T (p.Arg2441Ile) n.378-1833G>T c.7394G>T (p.Arg2465Ile) c.7319G>T (p.Arg2440Ile) c.7019G>T (p.Arg2340Ile) c.4283G>T (p.Arg1428Ile) c.3176G>T (p.Arg1059Ile) n.1830+5629C>A c.7202G>T (p.Arg2401Ile) c.2954G>T (p.Arg985Ile) c.6182G>T (p.Arg2061Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776850A>C | CA371875688 | VPS13B | c.7398A>C (p.Arg2466Ser) n.7468A>C c.*3080A>C (n.*3080A>C) c.7323A>C (p.Arg2441Ser) n.378-1832A>C c.7395A>C (p.Arg2465Ser) c.7320A>C (p.Arg2440Ser) c.7020A>C (p.Arg2340Ser) c.4284A>C (p.Arg1428Ser) c.3177A>C (p.Arg1059Ser) n.1830+5628T>G c.7203A>C (p.Arg2401Ser) c.2955A>C (p.Arg985Ser) c.6183A>C (p.Arg2061Ser) | |
8 | g.99776850A>G | CA462449186 | VPS13B | c.7398A>G (p.Arg2466=) n.7468A>G c.*3080A>G (n.*3080A>G) c.7323A>G (p.Arg2441=) n.378-1832A>G c.7395A>G (p.Arg2465=) c.7320A>G (p.Arg2440=) c.7020A>G (p.Arg2340=) c.4284A>G (p.Arg1428=) c.3177A>G (p.Arg1059=) n.1830+5628T>C c.7203A>G (p.Arg2401=) c.2955A>G (p.Arg985=) c.6183A>G (p.Arg2061=) | |
8 | g.99776850A>T | CA371875689 | VPS13B | c.7398A>T (p.Arg2466Ser) n.7468A>T c.*3080A>T (n.*3080A>T) c.7323A>T (p.Arg2441Ser) n.378-1832A>T c.7395A>T (p.Arg2465Ser) c.7320A>T (p.Arg2440Ser) c.7020A>T (p.Arg2340Ser) c.4284A>T (p.Arg1428Ser) c.3177A>T (p.Arg1059Ser) n.1830+5628T>A c.7203A>T (p.Arg2401Ser) c.2955A>T (p.Arg985Ser) c.6183A>T (p.Arg2061Ser) | |
8 | g.99776851G>A | CA371875690 | VPS13B | c.7399G>A (p.Val2467Ile) n.7469G>A c.*3081G>A (n.*3081G>A) c.7324G>A (p.Val2442Ile) n.378-1831G>A c.7396G>A (p.Val2466Ile) c.7321G>A (p.Val2441Ile) c.7021G>A (p.Val2341Ile) c.4285G>A (p.Val1429Ile) c.3178G>A (p.Val1060Ile) n.1830+5627C>T c.7204G>A (p.Val2402Ile) c.2956G>A (p.Val986Ile) c.6184G>A (p.Val2062Ile) | gnomAD v4 COSMIC COSMIC |
8 | g.99776851G>C | CA371875691 | VPS13B | c.7399G>C (p.Val2467Leu) n.7469G>C c.*3081G>C (n.*3081G>C) c.7324G>C (p.Val2442Leu) n.378-1831G>C c.7396G>C (p.Val2466Leu) c.7321G>C (p.Val2441Leu) c.7021G>C (p.Val2341Leu) c.4285G>C (p.Val1429Leu) c.3178G>C (p.Val1060Leu) n.1830+5627C>G c.7204G>C (p.Val2402Leu) c.2956G>C (p.Val986Leu) c.6184G>C (p.Val2062Leu) | |
8 | g.99776851G>T | CA371875692 | VPS13B | c.7399G>T (p.Val2467Phe) n.7469G>T c.*3081G>T (n.*3081G>T) c.7324G>T (p.Val2442Phe) n.378-1831G>T c.7396G>T (p.Val2466Phe) c.7321G>T (p.Val2441Phe) c.7021G>T (p.Val2341Phe) c.4285G>T (p.Val1429Phe) c.3178G>T (p.Val1060Phe) n.1830+5627C>A c.7204G>T (p.Val2402Phe) c.2956G>T (p.Val986Phe) c.6184G>T (p.Val2062Phe) | |
8 | g.99776852T>A | CA371875693 | VPS13B | c.7400T>A (p.Val2467Asp) n.7470T>A c.*3082T>A (n.*3082T>A) c.7325T>A (p.Val2442Asp) n.378-1830T>A c.7397T>A (p.Val2466Asp) c.7322T>A (p.Val2441Asp) c.7022T>A (p.Val2341Asp) c.4286T>A (p.Val1429Asp) c.3179T>A (p.Val1060Asp) n.1830+5626A>T c.7205T>A (p.Val2402Asp) c.2957T>A (p.Val986Asp) c.6185T>A (p.Val2062Asp) | gnomAD v4 |
8 | g.99776852T>C | CA371875694 | VPS13B | c.7400T>C (p.Val2467Ala) n.7470T>C c.*3082T>C (n.*3082T>C) c.7325T>C (p.Val2442Ala) n.378-1830T>C c.7397T>C (p.Val2466Ala) c.7322T>C (p.Val2441Ala) c.7022T>C (p.Val2341Ala) c.4286T>C (p.Val1429Ala) c.3179T>C (p.Val1060Ala) n.1830+5626A>G c.7205T>C (p.Val2402Ala) c.2957T>C (p.Val986Ala) c.6185T>C (p.Val2062Ala) | gnomAD v4 |
8 | g.99776852T>G | CA371875695 | VPS13B | c.7400T>G (p.Val2467Gly) n.7470T>G c.*3082T>G (n.*3082T>G) c.7325T>G (p.Val2442Gly) n.378-1830T>G c.7397T>G (p.Val2466Gly) c.7322T>G (p.Val2441Gly) c.7022T>G (p.Val2341Gly) c.4286T>G (p.Val1429Gly) c.3179T>G (p.Val1060Gly) n.1830+5626A>C c.7205T>G (p.Val2402Gly) c.2957T>G (p.Val986Gly) c.6185T>G (p.Val2062Gly) | |
8 | g.99776853T>A | CA462449187 | VPS13B | c.7401T>A (p.Val2467=) n.7471T>A c.*3083T>A (n.*3083T>A) c.7326T>A (p.Val2442=) n.378-1829T>A c.7398T>A (p.Val2466=) c.7323T>A (p.Val2441=) c.7023T>A (p.Val2341=) c.4287T>A (p.Val1429=) c.3180T>A (p.Val1060=) n.1830+5625A>T c.7206T>A (p.Val2402=) c.2958T>A (p.Val986=) c.6186T>A (p.Val2062=) | ClinVar dbSNP gnomAD v4 |
8 | g.99776853T>C | CA462449188 | VPS13B | c.7401T>C (p.Val2467=) n.7471T>C c.*3083T>C (n.*3083T>C) c.7326T>C (p.Val2442=) n.378-1829T>C c.7398T>C (p.Val2466=) c.7323T>C (p.Val2441=) c.7023T>C (p.Val2341=) c.4287T>C (p.Val1429=) c.3180T>C (p.Val1060=) n.1830+5625A>G c.7206T>C (p.Val2402=) c.2958T>C (p.Val986=) c.6186T>C (p.Val2062=) | ClinVar gnomAD v4 |
8 | g.99776853T>G | CA462449189 | VPS13B | c.7401T>G (p.Val2467=) n.7471T>G c.*3083T>G (n.*3083T>G) c.7326T>G (p.Val2442=) n.378-1829T>G c.7398T>G (p.Val2466=) c.7323T>G (p.Val2441=) c.7023T>G (p.Val2341=) c.4287T>G (p.Val1429=) c.3180T>G (p.Val1060=) n.1830+5625A>C c.7206T>G (p.Val2402=) c.2958T>G (p.Val986=) c.6186T>G (p.Val2062=) | gnomAD v4 |
8 | g.99776854G>A | CA371875698 | VPS13B | c.7402G>A (p.Asp2468Asn) n.7472G>A c.*3084G>A (n.*3084G>A) c.7327G>A (p.Asp2443Asn) n.378-1828G>A c.7399G>A (p.Asp2467Asn) c.7324G>A (p.Asp2442Asn) c.7024G>A (p.Asp2342Asn) c.4288G>A (p.Asp1430Asn) c.3181G>A (p.Asp1061Asn) n.1830+5624C>T c.7207G>A (p.Asp2403Asn) c.2959G>A (p.Asp987Asn) c.6187G>A (p.Asp2063Asn) | |
8 | g.99776854G>C | CA371875697 | VPS13B | c.7402G>C (p.Asp2468His) n.7472G>C c.*3084G>C (n.*3084G>C) c.7327G>C (p.Asp2443His) n.378-1828G>C c.7399G>C (p.Asp2467His) c.7324G>C (p.Asp2442His) c.7024G>C (p.Asp2342His) c.4288G>C (p.Asp1430His) c.3181G>C (p.Asp1061His) n.1830+5624C>G c.7207G>C (p.Asp2403His) c.2959G>C (p.Asp987His) c.6187G>C (p.Asp2063His) | |
8 | g.99776854G>T | CA371875696 | VPS13B | c.7402G>T (p.Asp2468Tyr) n.7472G>T c.*3084G>T (n.*3084G>T) c.7327G>T (p.Asp2443Tyr) n.378-1828G>T c.7399G>T (p.Asp2467Tyr) c.7324G>T (p.Asp2442Tyr) c.7024G>T (p.Asp2342Tyr) c.4288G>T (p.Asp1430Tyr) c.3181G>T (p.Asp1061Tyr) n.1830+5624C>A c.7207G>T (p.Asp2403Tyr) c.2959G>T (p.Asp987Tyr) c.6187G>T (p.Asp2063Tyr) | |
8 | g.99776855A>C | CA371875699 | VPS13B | c.7403A>C (p.Asp2468Ala) n.7473A>C c.*3085A>C (n.*3085A>C) c.7328A>C (p.Asp2443Ala) n.378-1827A>C c.7400A>C (p.Asp2467Ala) c.7325A>C (p.Asp2442Ala) c.7025A>C (p.Asp2342Ala) c.4289A>C (p.Asp1430Ala) c.3182A>C (p.Asp1061Ala) n.1830+5623T>G c.7208A>C (p.Asp2403Ala) c.2960A>C (p.Asp987Ala) c.6188A>C (p.Asp2063Ala) | gnomAD v4 |
8 | g.99776855A>G | CA371875700 | VPS13B | c.7403A>G (p.Asp2468Gly) n.7473A>G c.*3085A>G (n.*3085A>G) c.7328A>G (p.Asp2443Gly) n.378-1827A>G c.7400A>G (p.Asp2467Gly) c.7325A>G (p.Asp2442Gly) c.7025A>G (p.Asp2342Gly) c.4289A>G (p.Asp1430Gly) c.3182A>G (p.Asp1061Gly) n.1830+5623T>C c.7208A>G (p.Asp2403Gly) c.2960A>G (p.Asp987Gly) c.6188A>G (p.Asp2063Gly) | gnomAD v4 |
8 | g.99776855A>T | CA371875701 | VPS13B | c.7403A>T (p.Asp2468Val) n.7473A>T c.*3085A>T (n.*3085A>T) c.7328A>T (p.Asp2443Val) n.378-1827A>T c.7400A>T (p.Asp2467Val) c.7325A>T (p.Asp2442Val) c.7025A>T (p.Asp2342Val) c.4289A>T (p.Asp1430Val) c.3182A>T (p.Asp1061Val) n.1830+5623T>A c.7208A>T (p.Asp2403Val) c.2960A>T (p.Asp987Val) c.6188A>T (p.Asp2063Val) | |
8 | g.99776855_99776856insTTCTGGACAAGTTGGTGTGGAGCGAAATTT | CA2556541256 | VPS13B | c.7403_7404insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2468_Ser2469insSerGlyGlnValGlyValGluArgAsnPhe) n.7473_7474insTTCTGGACAAGTTGGTGTGGAGCGAAATTT c.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (n.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT) c.7328_7329insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2443_Ser2444insSerGlyGlnValGlyValGluArgAsnPhe) n.378-1827_378-1826insTTCTGGACAAGTTGGTGTGGAGCGAAATTT c.7400_7401insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2467_Ser2468insSerGlyGlnValGlyValGluArgAsnPhe) c.7325_7326insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2442_Ser2443insSerGlyGlnValGlyValGluArgAsnPhe) c.7025_7026insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2342_Ser2343insSerGlyGlnValGlyValGluArgAsnPhe) c.4289_4290insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1430_Ser1431insSerGlyGlnValGlyValGluArgAsnPhe) c.3182_3183insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1061_Ser1062insSerGlyGlnValGlyValGluArgAsnPhe) n.1830+5622_1830+5623insAAATTTCGCTCCACACCAACTTGTCCAGAA c.7208_7209insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2403_Ser2404insSerGlyGlnValGlyValGluArgAsnPhe) c.2960_2961insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp987_Ser988insSerGlyGlnValGlyValGluArgAsnPhe) c.6188_6189insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2063_Ser2064insSerGlyGlnValGlyValGluArgAsnPhe) | |
8 | g.99776856C>A | CA371875702 | VPS13B | c.7404C>A (p.Asp2468Glu) n.7474C>A c.*3086C>A (n.*3086C>A) c.7329C>A (p.Asp2443Glu) n.378-1826C>A c.7401C>A (p.Asp2467Glu) c.7326C>A (p.Asp2442Glu) c.7026C>A (p.Asp2342Glu) c.4290C>A (p.Asp1430Glu) c.3183C>A (p.Asp1061Glu) n.1830+5622G>T c.7209C>A (p.Asp2403Glu) c.2961C>A (p.Asp987Glu) c.6189C>A (p.Asp2063Glu) | |
8 | g.99776856C>G | CA371875703 | VPS13B | c.7404C>G (p.Asp2468Glu) n.7474C>G c.*3086C>G (n.*3086C>G) c.7329C>G (p.Asp2443Glu) n.378-1826C>G c.7401C>G (p.Asp2467Glu) c.7326C>G (p.Asp2442Glu) c.7026C>G (p.Asp2342Glu) c.4290C>G (p.Asp1430Glu) c.3183C>G (p.Asp1061Glu) n.1830+5622G>C c.7209C>G (p.Asp2403Glu) c.2961C>G (p.Asp987Glu) c.6189C>G (p.Asp2063Glu) | |
8 | g.99776856C>T | CA462449190 | VPS13B | c.7404C>T (p.Asp2468=) n.7474C>T c.*3086C>T (n.*3086C>T) c.7329C>T (p.Asp2443=) n.378-1826C>T c.7401C>T (p.Asp2467=) c.7326C>T (p.Asp2442=) c.7026C>T (p.Asp2342=) c.4290C>T (p.Asp1430=) c.3183C>T (p.Asp1061=) n.1830+5622G>A c.7209C>T (p.Asp2403=) c.2961C>T (p.Asp987=) c.6189C>T (p.Asp2063=) | ClinVar dbSNP |
8 | g.99776857T>A | CA371875704 | VPS13B | c.7405T>A (p.Ser2469Thr) n.7475T>A c.*3087T>A (n.*3087T>A) c.7330T>A (p.Ser2444Thr) n.378-1825T>A c.7402T>A (p.Ser2468Thr) c.7327T>A (p.Ser2443Thr) c.7027T>A (p.Ser2343Thr) c.4291T>A (p.Ser1431Thr) c.3184T>A (p.Ser1062Thr) n.1830+5621A>T c.7210T>A (p.Ser2404Thr) c.2962T>A (p.Ser988Thr) c.6190T>A (p.Ser2064Thr) | ClinVar dbSNP |
8 | g.99776857T>C | CA4824193 | VPS13B | c.7405T>C (p.Ser2469Pro) n.7475T>C c.*3087T>C (n.*3087T>C) c.7330T>C (p.Ser2444Pro) n.378-1825T>C c.7402T>C (p.Ser2468Pro) c.7327T>C (p.Ser2443Pro) c.7027T>C (p.Ser2343Pro) c.4291T>C (p.Ser1431Pro) c.3184T>C (p.Ser1062Pro) n.1830+5621A>G c.7210T>C (p.Ser2404Pro) c.2962T>C (p.Ser988Pro) c.6190T>C (p.Ser2064Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776857T>G | CA371875705 | VPS13B | c.7405T>G (p.Ser2469Ala) n.7475T>G c.*3087T>G (n.*3087T>G) c.7330T>G (p.Ser2444Ala) n.378-1825T>G c.7402T>G (p.Ser2468Ala) c.7327T>G (p.Ser2443Ala) c.7027T>G (p.Ser2343Ala) c.4291T>G (p.Ser1431Ala) c.3184T>G (p.Ser1062Ala) n.1830+5621A>C c.7210T>G (p.Ser2404Ala) c.2962T>G (p.Ser988Ala) c.6190T>G (p.Ser2064Ala) | |
8 | g.99776858C>A | CA371875706 | VPS13B | c.7406C>A (p.Ser2469Tyr) n.7476C>A c.*3088C>A (n.*3088C>A) c.7331C>A (p.Ser2444Tyr) n.378-1824C>A c.7403C>A (p.Ser2468Tyr) c.7328C>A (p.Ser2443Tyr) c.7028C>A (p.Ser2343Tyr) c.4292C>A (p.Ser1431Tyr) c.3185C>A (p.Ser1062Tyr) n.1830+5620G>T c.7211C>A (p.Ser2404Tyr) c.2963C>A (p.Ser988Tyr) c.6191C>A (p.Ser2064Tyr) | |
8 | g.99776858C>G | CA371875707 | VPS13B | c.7406C>G (p.Ser2469Cys) n.7476C>G c.*3088C>G (n.*3088C>G) c.7331C>G (p.Ser2444Cys) n.378-1824C>G c.7403C>G (p.Ser2468Cys) c.7328C>G (p.Ser2443Cys) c.7028C>G (p.Ser2343Cys) c.4292C>G (p.Ser1431Cys) c.3185C>G (p.Ser1062Cys) n.1830+5620G>C c.7211C>G (p.Ser2404Cys) c.2963C>G (p.Ser988Cys) c.6191C>G (p.Ser2064Cys) | |
8 | g.99776858C>T | CA371875708 | VPS13B | c.7406C>T (p.Ser2469Phe) n.7476C>T c.*3088C>T (n.*3088C>T) c.7331C>T (p.Ser2444Phe) n.378-1824C>T c.7403C>T (p.Ser2468Phe) c.7328C>T (p.Ser2443Phe) c.7028C>T (p.Ser2343Phe) c.4292C>T (p.Ser1431Phe) c.3185C>T (p.Ser1062Phe) n.1830+5620G>A c.7211C>T (p.Ser2404Phe) c.2963C>T (p.Ser988Phe) c.6191C>T (p.Ser2064Phe) | |
8 | g.99776859C>A | CA462449193 | VPS13B | c.7407C>A (p.Ser2469=) n.7477C>A c.*3089C>A (n.*3089C>A) c.7332C>A (p.Ser2444=) n.378-1823C>A c.7404C>A (p.Ser2468=) c.7329C>A (p.Ser2443=) c.7029C>A (p.Ser2343=) c.4293C>A (p.Ser1431=) c.3186C>A (p.Ser1062=) n.1830+5619G>T c.7212C>A (p.Ser2404=) c.2964C>A (p.Ser988=) c.6192C>A (p.Ser2064=) | |
8 | g.99776859C>G | CA462449192 | VPS13B | c.7407C>G (p.Ser2469=) n.7477C>G c.*3089C>G (n.*3089C>G) c.7332C>G (p.Ser2444=) n.378-1823C>G c.7404C>G (p.Ser2468=) c.7329C>G (p.Ser2443=) c.7029C>G (p.Ser2343=) c.4293C>G (p.Ser1431=) c.3186C>G (p.Ser1062=) n.1830+5619G>C c.7212C>G (p.Ser2404=) c.2964C>G (p.Ser988=) c.6192C>G (p.Ser2064=) | |
8 | g.99776859C>T | CA462449191 | VPS13B | c.7407C>T (p.Ser2469=) n.7477C>T c.*3089C>T (n.*3089C>T) c.7332C>T (p.Ser2444=) n.378-1823C>T c.7404C>T (p.Ser2468=) c.7329C>T (p.Ser2443=) c.7029C>T (p.Ser2343=) c.4293C>T (p.Ser1431=) c.3186C>T (p.Ser1062=) n.1830+5619G>A c.7212C>T (p.Ser2404=) c.2964C>T (p.Ser988=) c.6192C>T (p.Ser2064=) | |
8 | g.99776859_99776860insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC | CA2550671528 | VPS13B | c.7407_7408insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2470GlyfsTer59) n.7477_7478insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC c.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (n.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC) c.7332_7333insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2445GlyfsTer59) n.378-1823_378-1822insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC c.7404_7405insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2469GlyfsTer59) c.7329_7330insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2444GlyfsTer59) c.7029_7030insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2344GlyfsTer59) c.4293_4294insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1432GlyfsTer59) c.3186_3187insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1063GlyfsTer59) n.1830+5619_1830+5620insTTTGACCGGAATTTCACGCACTGAGAATGCGTAAATTGTAGAGGTAAACGAGCTATGCCAACCGACATTCAGTGGTTCTTTTTGAAACTCACCG c.7212_7213insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2405GlyfsTer59) c.2964_2965insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys989GlyfsTer59) c.6192_6193insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2065GlyfsTer59) | |
8 | g.99776860T>A | CA371875709 | VPS13B | c.7408T>A (p.Cys2470Ser) n.7478T>A c.*3090T>A (n.*3090T>A) c.7333T>A (p.Cys2445Ser) n.378-1822T>A c.7405T>A (p.Cys2469Ser) c.7330T>A (p.Cys2444Ser) c.7030T>A (p.Cys2344Ser) c.4294T>A (p.Cys1432Ser) c.3187T>A (p.Cys1063Ser) n.1830+5618A>T c.7213T>A (p.Cys2405Ser) c.2965T>A (p.Cys989Ser) c.6193T>A (p.Cys2065Ser) | |
8 | g.99776860T>C | CA371875710 | VPS13B | c.7408T>C (p.Cys2470Arg) n.7478T>C c.*3090T>C (n.*3090T>C) c.7333T>C (p.Cys2445Arg) n.378-1822T>C c.7405T>C (p.Cys2469Arg) c.7330T>C (p.Cys2444Arg) c.7030T>C (p.Cys2344Arg) c.4294T>C (p.Cys1432Arg) c.3187T>C (p.Cys1063Arg) n.1830+5618A>G c.7213T>C (p.Cys2405Arg) c.2965T>C (p.Cys989Arg) c.6193T>C (p.Cys2065Arg) | |
8 | g.99776860T>G | CA371875711 | VPS13B | c.7408T>G (p.Cys2470Gly) n.7478T>G c.*3090T>G (n.*3090T>G) c.7333T>G (p.Cys2445Gly) n.378-1822T>G c.7405T>G (p.Cys2469Gly) c.7330T>G (p.Cys2444Gly) c.7030T>G (p.Cys2344Gly) c.4294T>G (p.Cys1432Gly) c.3187T>G (p.Cys1063Gly) n.1830+5618A>C c.7213T>G (p.Cys2405Gly) c.2965T>G (p.Cys989Gly) c.6193T>G (p.Cys2065Gly) | |
8 | g.99776861G>A | CA371875713 | VPS13B | c.7409G>A (p.Cys2470Tyr) n.7479G>A c.*3091G>A (n.*3091G>A) c.7334G>A (p.Cys2445Tyr) n.378-1821G>A c.7406G>A (p.Cys2469Tyr) c.7331G>A (p.Cys2444Tyr) c.7031G>A (p.Cys2344Tyr) c.4295G>A (p.Cys1432Tyr) c.3188G>A (p.Cys1063Tyr) n.1830+5617C>T c.7214G>A (p.Cys2405Tyr) c.2966G>A (p.Cys989Tyr) c.6194G>A (p.Cys2065Tyr) | |
8 | g.99776861G>C | CA183041725 | VPS13B | c.7409G>C (p.Cys2470Ser) n.7479G>C c.*3091G>C (n.*3091G>C) c.7334G>C (p.Cys2445Ser) n.378-1821G>C c.7406G>C (p.Cys2469Ser) c.7331G>C (p.Cys2444Ser) c.7031G>C (p.Cys2344Ser) c.4295G>C (p.Cys1432Ser) c.3188G>C (p.Cys1063Ser) n.1830+5617C>G c.7214G>C (p.Cys2405Ser) c.2966G>C (p.Cys989Ser) c.6194G>C (p.Cys2065Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.99776861G>T | CA371875712 | VPS13B | c.7409G>T (p.Cys2470Phe) n.7479G>T c.*3091G>T (n.*3091G>T) c.7334G>T (p.Cys2445Phe) n.378-1821G>T c.7406G>T (p.Cys2469Phe) c.7331G>T (p.Cys2444Phe) c.7031G>T (p.Cys2344Phe) c.4295G>T (p.Cys1432Phe) c.3188G>T (p.Cys1063Phe) n.1830+5617C>A c.7214G>T (p.Cys2405Phe) c.2966G>T (p.Cys989Phe) c.6194G>T (p.Cys2065Phe) | |
8 | g.99776862C>A | CA371875714 | VPS13B | c.7410C>A (p.Cys2470Ter) n.7480C>A c.*3092C>A (n.*3092C>A) c.7335C>A (p.Cys2445Ter) n.378-1820C>A c.7407C>A (p.Cys2469Ter) c.7332C>A (p.Cys2444Ter) c.7032C>A (p.Cys2344Ter) c.4296C>A (p.Cys1432Ter) c.3189C>A (p.Cys1063Ter) n.1830+5616G>T c.7215C>A (p.Cys2405Ter) c.2967C>A (p.Cys989Ter) c.6195C>A (p.Cys2065Ter) | |
8 | g.99776862C>G | CA371875715 | VPS13B | c.7410C>G (p.Cys2470Trp) n.7480C>G c.*3092C>G (n.*3092C>G) c.7335C>G (p.Cys2445Trp) n.378-1820C>G c.7407C>G (p.Cys2469Trp) c.7332C>G (p.Cys2444Trp) c.7032C>G (p.Cys2344Trp) c.4296C>G (p.Cys1432Trp) c.3189C>G (p.Cys1063Trp) n.1830+5616G>C c.7215C>G (p.Cys2405Trp) c.2967C>G (p.Cys989Trp) c.6195C>G (p.Cys2065Trp) | |
8 | g.99776862C>T | CA462449194 | VPS13B | c.7410C>T (p.Cys2470=) n.7480C>T c.*3092C>T (n.*3092C>T) c.7335C>T (p.Cys2445=) n.378-1820C>T c.7407C>T (p.Cys2469=) c.7332C>T (p.Cys2444=) c.7032C>T (p.Cys2344=) c.4296C>T (p.Cys1432=) c.3189C>T (p.Cys1063=) n.1830+5616G>A c.7215C>T (p.Cys2405=) c.2967C>T (p.Cys989=) c.6195C>T (p.Cys2065=) | |
8 | g.99776863T>A | CA371875716 | VPS13B | c.7411T>A (p.Phe2471Ile) n.7481T>A c.*3093T>A (n.*3093T>A) c.7336T>A (p.Phe2446Ile) n.378-1819T>A c.7408T>A (p.Phe2470Ile) c.7333T>A (p.Phe2445Ile) c.7033T>A (p.Phe2345Ile) c.4297T>A (p.Phe1433Ile) c.3190T>A (p.Phe1064Ile) n.1830+5615A>T c.7216T>A (p.Phe2406Ile) c.2968T>A (p.Phe990Ile) c.6196T>A (p.Phe2066Ile) | |
8 | g.99776863T>C | CA371875717 | VPS13B | c.7411T>C (p.Phe2471Leu) n.7481T>C c.*3093T>C (n.*3093T>C) c.7336T>C (p.Phe2446Leu) n.378-1819T>C c.7408T>C (p.Phe2470Leu) c.7333T>C (p.Phe2445Leu) c.7033T>C (p.Phe2345Leu) c.4297T>C (p.Phe1433Leu) c.3190T>C (p.Phe1064Leu) n.1830+5615A>G c.7216T>C (p.Phe2406Leu) c.2968T>C (p.Phe990Leu) c.6196T>C (p.Phe2066Leu) | |
8 | g.99776863T>G | CA371875718 | VPS13B | c.7411T>G (p.Phe2471Val) n.7481T>G c.*3093T>G (n.*3093T>G) c.7336T>G (p.Phe2446Val) n.378-1819T>G c.7408T>G (p.Phe2470Val) c.7333T>G (p.Phe2445Val) c.7033T>G (p.Phe2345Val) c.4297T>G (p.Phe1433Val) c.3190T>G (p.Phe1064Val) n.1830+5615A>C c.7216T>G (p.Phe2406Val) c.2968T>G (p.Phe990Val) c.6196T>G (p.Phe2066Val) | |
8 | g.99776864T>A | CA371875721 | VPS13B | c.7412T>A (p.Phe2471Tyr) n.7482T>A c.*3094T>A (n.*3094T>A) c.7337T>A (p.Phe2446Tyr) n.378-1818T>A c.7409T>A (p.Phe2470Tyr) c.7334T>A (p.Phe2445Tyr) c.7034T>A (p.Phe2345Tyr) c.4298T>A (p.Phe1433Tyr) c.3191T>A (p.Phe1064Tyr) n.1830+5614A>T c.7217T>A (p.Phe2406Tyr) c.2969T>A (p.Phe990Tyr) c.6197T>A (p.Phe2066Tyr) | |
8 | g.99776864T>C | CA371875720 | VPS13B | c.7412T>C (p.Phe2471Ser) n.7482T>C c.*3094T>C (n.*3094T>C) c.7337T>C (p.Phe2446Ser) n.378-1818T>C c.7409T>C (p.Phe2470Ser) c.7334T>C (p.Phe2445Ser) c.7034T>C (p.Phe2345Ser) c.4298T>C (p.Phe1433Ser) c.3191T>C (p.Phe1064Ser) n.1830+5614A>G c.7217T>C (p.Phe2406Ser) c.2969T>C (p.Phe990Ser) c.6197T>C (p.Phe2066Ser) | |
8 | g.99776864T>G | CA371875719 | VPS13B | c.7412T>G (p.Phe2471Cys) n.7482T>G c.*3094T>G (n.*3094T>G) c.7337T>G (p.Phe2446Cys) n.378-1818T>G c.7409T>G (p.Phe2470Cys) c.7334T>G (p.Phe2445Cys) c.7034T>G (p.Phe2345Cys) c.4298T>G (p.Phe1433Cys) c.3191T>G (p.Phe1064Cys) n.1830+5614A>C c.7217T>G (p.Phe2406Cys) c.2969T>G (p.Phe990Cys) c.6197T>G (p.Phe2066Cys) | |
8 | g.99776865T>A | CA371875722 | VPS13B | c.7413T>A (p.Phe2471Leu) n.7483T>A c.*3095T>A (n.*3095T>A) c.7338T>A (p.Phe2446Leu) n.378-1817T>A c.7410T>A (p.Phe2470Leu) c.7335T>A (p.Phe2445Leu) c.7035T>A (p.Phe2345Leu) c.4299T>A (p.Phe1433Leu) c.3192T>A (p.Phe1064Leu) n.1830+5613A>T c.7218T>A (p.Phe2406Leu) c.2970T>A (p.Phe990Leu) c.6198T>A (p.Phe2066Leu) | |
8 | g.99776865T>C | CA202890 | VPS13B | c.7413T>C (p.Phe2471=) n.7483T>C c.*3095T>C (n.*3095T>C) c.7338T>C (p.Phe2446=) n.378-1817T>C c.7410T>C (p.Phe2470=) c.7335T>C (p.Phe2445=) c.7035T>C (p.Phe2345=) c.4299T>C (p.Phe1433=) c.3192T>C (p.Phe1064=) n.1830+5613A>G c.7218T>C (p.Phe2406=) c.2970T>C (p.Phe990=) c.6198T>C (p.Phe2066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776865T>G | CA371875723 | VPS13B | c.7413T>G (p.Phe2471Leu) n.7483T>G c.*3095T>G (n.*3095T>G) c.7338T>G (p.Phe2446Leu) n.378-1817T>G c.7410T>G (p.Phe2470Leu) c.7335T>G (p.Phe2445Leu) c.7035T>G (p.Phe2345Leu) c.4299T>G (p.Phe1433Leu) c.3192T>G (p.Phe1064Leu) n.1830+5613A>C c.7218T>G (p.Phe2406Leu) c.2970T>G (p.Phe990Leu) c.6198T>G (p.Phe2066Leu) | |
8 | g.99776866A>C | CA371875724 | VPS13B | c.7414A>C (p.Thr2472Pro) n.7484A>C c.*3096A>C (n.*3096A>C) c.7339A>C (p.Thr2447Pro) n.378-1816A>C c.7411A>C (p.Thr2471Pro) c.7336A>C (p.Thr2446Pro) c.7036A>C (p.Thr2346Pro) c.4300A>C (p.Thr1434Pro) c.3193A>C (p.Thr1065Pro) n.1830+5612T>G c.7219A>C (p.Thr2407Pro) c.2971A>C (p.Thr991Pro) c.6199A>C (p.Thr2067Pro) | |
8 | g.99776866A>G | CA371875725 | VPS13B | c.7414A>G (p.Thr2472Ala) n.7484A>G c.*3096A>G (n.*3096A>G) c.7339A>G (p.Thr2447Ala) n.378-1816A>G c.7411A>G (p.Thr2471Ala) c.7336A>G (p.Thr2446Ala) c.7036A>G (p.Thr2346Ala) c.4300A>G (p.Thr1434Ala) c.3193A>G (p.Thr1065Ala) n.1830+5612T>C c.7219A>G (p.Thr2407Ala) c.2971A>G (p.Thr991Ala) c.6199A>G (p.Thr2067Ala) | |
8 | g.99776866A>T | CA371875726 | VPS13B | c.7414A>T (p.Thr2472Ser) n.7484A>T c.*3096A>T (n.*3096A>T) c.7339A>T (p.Thr2447Ser) n.378-1816A>T c.7411A>T (p.Thr2471Ser) c.7336A>T (p.Thr2446Ser) c.7036A>T (p.Thr2346Ser) c.4300A>T (p.Thr1434Ser) c.3193A>T (p.Thr1065Ser) n.1830+5612T>A c.7219A>T (p.Thr2407Ser) c.2971A>T (p.Thr991Ser) c.6199A>T (p.Thr2067Ser) | |
8 | g.99776867C>A | CA4824194 | VPS13B | c.7415C>A (p.Thr2472Asn) n.7485C>A c.*3097C>A (n.*3097C>A) c.7340C>A (p.Thr2447Asn) n.378-1815C>A c.7412C>A (p.Thr2471Asn) c.7337C>A (p.Thr2446Asn) c.7037C>A (p.Thr2346Asn) c.4301C>A (p.Thr1434Asn) c.3194C>A (p.Thr1065Asn) n.1830+5611G>T c.7220C>A (p.Thr2407Asn) c.2972C>A (p.Thr991Asn) c.6200C>A (p.Thr2067Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776867C>G | CA371875728 | VPS13B | c.7415C>G (p.Thr2472Ser) n.7485C>G c.*3097C>G (n.*3097C>G) c.7340C>G (p.Thr2447Ser) n.378-1815C>G c.7412C>G (p.Thr2471Ser) c.7337C>G (p.Thr2446Ser) c.7037C>G (p.Thr2346Ser) c.4301C>G (p.Thr1434Ser) c.3194C>G (p.Thr1065Ser) n.1830+5611G>C c.7220C>G (p.Thr2407Ser) c.2972C>G (p.Thr991Ser) c.6200C>G (p.Thr2067Ser) | |
8 | g.99776867C>T | CA371875727 | VPS13B | c.7415C>T (p.Thr2472Ile) n.7485C>T c.*3097C>T (n.*3097C>T) c.7340C>T (p.Thr2447Ile) n.378-1815C>T c.7412C>T (p.Thr2471Ile) c.7337C>T (p.Thr2446Ile) c.7037C>T (p.Thr2346Ile) c.4301C>T (p.Thr1434Ile) c.3194C>T (p.Thr1065Ile) n.1830+5611G>A c.7220C>T (p.Thr2407Ile) c.2972C>T (p.Thr991Ile) c.6200C>T (p.Thr2067Ile) | |
8 | g.99776868C>A | CA462449195 | VPS13B | c.7416C>A (p.Thr2472=) n.7486C>A c.*3098C>A (n.*3098C>A) c.7341C>A (p.Thr2447=) n.378-1814C>A c.7413C>A (p.Thr2471=) c.7338C>A (p.Thr2446=) c.7038C>A (p.Thr2346=) c.4302C>A (p.Thr1434=) c.3195C>A (p.Thr1065=) n.1830+5610G>T c.7221C>A (p.Thr2407=) c.2973C>A (p.Thr991=) c.6201C>A (p.Thr2067=) | |
8 | g.99776868C>G | CA462449196 | VPS13B | c.7416C>G (p.Thr2472=) n.7486C>G c.*3098C>G (n.*3098C>G) c.7341C>G (p.Thr2447=) n.378-1814C>G c.7413C>G (p.Thr2471=) c.7338C>G (p.Thr2446=) c.7038C>G (p.Thr2346=) c.4302C>G (p.Thr1434=) c.3195C>G (p.Thr1065=) n.1830+5610G>C c.7221C>G (p.Thr2407=) c.2973C>G (p.Thr991=) c.6201C>G (p.Thr2067=) | |
8 | g.99776868C>T | CA462449197 | VPS13B | c.7416C>T (p.Thr2472=) n.7486C>T c.*3098C>T (n.*3098C>T) c.7341C>T (p.Thr2447=) n.378-1814C>T c.7413C>T (p.Thr2471=) c.7338C>T (p.Thr2446=) c.7038C>T (p.Thr2346=) c.4302C>T (p.Thr1434=) c.3195C>T (p.Thr1065=) n.1830+5610G>A c.7221C>T (p.Thr2407=) c.2973C>T (p.Thr991=) c.6201C>T (p.Thr2067=) | gnomAD v4 COSMIC COSMIC |
8 | g.99776869C>A | CA371875729 | VPS13B | c.7417C>A (p.Pro2473Thr) n.7487C>A c.*3099C>A (n.*3099C>A) c.7342C>A (p.Pro2448Thr) n.378-1813C>A c.7414C>A (p.Pro2472Thr) c.7339C>A (p.Pro2447Thr) c.7039C>A (p.Pro2347Thr) c.4303C>A (p.Pro1435Thr) c.3196C>A (p.Pro1066Thr) n.1830+5609G>T c.7222C>A (p.Pro2408Thr) c.2974C>A (p.Pro992Thr) c.6202C>A (p.Pro2068Thr) | |
8 | g.99776869C>G | CA371875730 | VPS13B | c.7417C>G (p.Pro2473Ala) n.7487C>G c.*3099C>G (n.*3099C>G) c.7342C>G (p.Pro2448Ala) n.378-1813C>G c.7414C>G (p.Pro2472Ala) c.7339C>G (p.Pro2447Ala) c.7039C>G (p.Pro2347Ala) c.4303C>G (p.Pro1435Ala) c.3196C>G (p.Pro1066Ala) n.1830+5609G>C c.7222C>G (p.Pro2408Ala) c.2974C>G (p.Pro992Ala) c.6202C>G (p.Pro2068Ala) | |
8 | g.99776869C>T | CA371875731 | VPS13B | c.7417C>T (p.Pro2473Ser) n.7487C>T c.*3099C>T (n.*3099C>T) c.7342C>T (p.Pro2448Ser) n.378-1813C>T c.7414C>T (p.Pro2472Ser) c.7339C>T (p.Pro2447Ser) c.7039C>T (p.Pro2347Ser) c.4303C>T (p.Pro1435Ser) c.3196C>T (p.Pro1066Ser) n.1830+5609G>A c.7222C>T (p.Pro2408Ser) c.2974C>T (p.Pro992Ser) c.6202C>T (p.Pro2068Ser) | dbSNP COSMIC COSMIC |
8 | g.99776870C>A | CA371875732 | VPS13B | c.7418C>A (p.Pro2473Gln) n.7488C>A c.*3100C>A (n.*3100C>A) c.7343C>A (p.Pro2448Gln) n.378-1812C>A c.7415C>A (p.Pro2472Gln) c.7340C>A (p.Pro2447Gln) c.7040C>A (p.Pro2347Gln) c.4304C>A (p.Pro1435Gln) c.3197C>A (p.Pro1066Gln) n.1830+5608G>T c.7223C>A (p.Pro2408Gln) c.2975C>A (p.Pro992Gln) c.6203C>A (p.Pro2068Gln) | |
8 | g.99776870C>G | CA371875733 | VPS13B | c.7418C>G (p.Pro2473Arg) n.7488C>G c.*3100C>G (n.*3100C>G) c.7343C>G (p.Pro2448Arg) n.378-1812C>G c.7415C>G (p.Pro2472Arg) c.7340C>G (p.Pro2447Arg) c.7040C>G (p.Pro2347Arg) c.4304C>G (p.Pro1435Arg) c.3197C>G (p.Pro1066Arg) n.1830+5608G>C c.7223C>G (p.Pro2408Arg) c.2975C>G (p.Pro992Arg) c.6203C>G (p.Pro2068Arg) | |
8 | g.99776870C>T | CA371875734 | VPS13B | c.7418C>T (p.Pro2473Leu) n.7488C>T c.*3100C>T (n.*3100C>T) c.7343C>T (p.Pro2448Leu) n.378-1812C>T c.7415C>T (p.Pro2472Leu) c.7340C>T (p.Pro2447Leu) c.7040C>T (p.Pro2347Leu) c.4304C>T (p.Pro1435Leu) c.3197C>T (p.Pro1066Leu) n.1830+5608G>A c.7223C>T (p.Pro2408Leu) c.2975C>T (p.Pro992Leu) c.6203C>T (p.Pro2068Leu) | dbSNP COSMIC COSMIC |
8 | g.99776871A>C | CA462449198 | VPS13B | c.7419A>C (p.Pro2473=) n.7489A>C c.*3101A>C (n.*3101A>C) c.7344A>C (p.Pro2448=) n.378-1811A>C c.7416A>C (p.Pro2472=) c.7341A>C (p.Pro2447=) c.7041A>C (p.Pro2347=) c.4305A>C (p.Pro1435=) c.3198A>C (p.Pro1066=) n.1830+5607T>G c.7224A>C (p.Pro2408=) c.2976A>C (p.Pro992=) c.6204A>C (p.Pro2068=) | |
8 | g.99776871A>G | CA4824195 | VPS13B | c.7419A>G (p.Pro2473=) n.7489A>G c.*3101A>G (n.*3101A>G) c.7344A>G (p.Pro2448=) n.378-1811A>G c.7416A>G (p.Pro2472=) c.7341A>G (p.Pro2447=) c.7041A>G (p.Pro2347=) c.4305A>G (p.Pro1435=) c.3198A>G (p.Pro1066=) n.1830+5607T>C c.7224A>G (p.Pro2408=) c.2976A>G (p.Pro992=) c.6204A>G (p.Pro2068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776871A>T | CA462449199 | VPS13B | c.7419A>T (p.Pro2473=) n.7489A>T c.*3101A>T (n.*3101A>T) c.7344A>T (p.Pro2448=) n.378-1811A>T c.7416A>T (p.Pro2472=) c.7341A>T (p.Pro2447=) c.7041A>T (p.Pro2347=) c.4305A>T (p.Pro1435=) c.3198A>T (p.Pro1066=) n.1830+5607T>A c.7224A>T (p.Pro2408=) c.2976A>T (p.Pro992=) c.6204A>T (p.Pro2068=) | ClinVar |
8 | g.99776872T>A | CA371875735 | VPS13B | c.7420T>A (p.Trp2474Arg) n.7490T>A c.*3102T>A (n.*3102T>A) c.7345T>A (p.Trp2449Arg) n.378-1810T>A c.7417T>A (p.Trp2473Arg) c.7342T>A (p.Trp2448Arg) c.7042T>A (p.Trp2348Arg) c.4306T>A (p.Trp1436Arg) c.3199T>A (p.Trp1067Arg) n.1830+5606A>T c.7225T>A (p.Trp2409Arg) c.2977T>A (p.Trp993Arg) c.6205T>A (p.Trp2069Arg) | |
8 | g.99776872T>C | CA183041732 | VPS13B | c.7420T>C (p.Trp2474Arg) n.7490T>C c.*3102T>C (n.*3102T>C) c.7345T>C (p.Trp2449Arg) n.378-1810T>C c.7417T>C (p.Trp2473Arg) c.7342T>C (p.Trp2448Arg) c.7042T>C (p.Trp2348Arg) c.4306T>C (p.Trp1436Arg) c.3199T>C (p.Trp1067Arg) n.1830+5606A>G c.7225T>C (p.Trp2409Arg) c.2977T>C (p.Trp993Arg) c.6205T>C (p.Trp2069Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776872T>G | CA371875736 | VPS13B | c.7420T>G (p.Trp2474Gly) n.7490T>G c.*3102T>G (n.*3102T>G) c.7345T>G (p.Trp2449Gly) n.378-1810T>G c.7417T>G (p.Trp2473Gly) c.7342T>G (p.Trp2448Gly) c.7042T>G (p.Trp2348Gly) c.4306T>G (p.Trp1436Gly) c.3199T>G (p.Trp1067Gly) n.1830+5606A>C c.7225T>G (p.Trp2409Gly) c.2977T>G (p.Trp993Gly) c.6205T>G (p.Trp2069Gly) | |
8 | g.99776873G>A | CA371875739 | VPS13B | c.7421G>A (p.Trp2474Ter) n.7491G>A c.*3103G>A (n.*3103G>A) c.7346G>A (p.Trp2449Ter) n.378-1809G>A c.7418G>A (p.Trp2473Ter) c.7343G>A (p.Trp2448Ter) c.7043G>A (p.Trp2348Ter) c.4307G>A (p.Trp1436Ter) c.3200G>A (p.Trp1067Ter) n.1830+5605C>T c.7226G>A (p.Trp2409Ter) c.2978G>A (p.Trp993Ter) c.6206G>A (p.Trp2069Ter) | |
8 | g.99776873G>C | CA371875738 | VPS13B | c.7421G>C (p.Trp2474Ser) n.7491G>C c.*3103G>C (n.*3103G>C) c.7346G>C (p.Trp2449Ser) n.378-1809G>C c.7418G>C (p.Trp2473Ser) c.7343G>C (p.Trp2448Ser) c.7043G>C (p.Trp2348Ser) c.4307G>C (p.Trp1436Ser) c.3200G>C (p.Trp1067Ser) n.1830+5605C>G c.7226G>C (p.Trp2409Ser) c.2978G>C (p.Trp993Ser) c.6206G>C (p.Trp2069Ser) | |
8 | g.99776873G>T | CA371875737 | VPS13B | c.7421G>T (p.Trp2474Leu) n.7491G>T c.*3103G>T (n.*3103G>T) c.7346G>T (p.Trp2449Leu) n.378-1809G>T c.7418G>T (p.Trp2473Leu) c.7343G>T (p.Trp2448Leu) c.7043G>T (p.Trp2348Leu) c.4307G>T (p.Trp1436Leu) c.3200G>T (p.Trp1067Leu) n.1830+5605C>A c.7226G>T (p.Trp2409Leu) c.2978G>T (p.Trp993Leu) c.6206G>T (p.Trp2069Leu) | COSMIC COSMIC |
8 | g.99776874G>A | CA371875740 | VPS13B | c.7422G>A (p.Trp2474Ter) n.7492G>A c.*3104G>A (n.*3104G>A) c.7347G>A (p.Trp2449Ter) n.378-1808G>A c.7419G>A (p.Trp2473Ter) c.7344G>A (p.Trp2448Ter) c.7044G>A (p.Trp2348Ter) c.4308G>A (p.Trp1436Ter) c.3201G>A (p.Trp1067Ter) n.1830+5604C>T c.7227G>A (p.Trp2409Ter) c.2979G>A (p.Trp993Ter) c.6207G>A (p.Trp2069Ter) | |
8 | g.99776874G>C | CA371875742 | VPS13B | c.7422G>C (p.Trp2474Cys) n.7492G>C c.*3104G>C (n.*3104G>C) c.7347G>C (p.Trp2449Cys) n.378-1808G>C c.7419G>C (p.Trp2473Cys) c.7344G>C (p.Trp2448Cys) c.7044G>C (p.Trp2348Cys) c.4308G>C (p.Trp1436Cys) c.3201G>C (p.Trp1067Cys) n.1830+5604C>G c.7227G>C (p.Trp2409Cys) c.2979G>C (p.Trp993Cys) c.6207G>C (p.Trp2069Cys) | |
8 | g.99776874G>T | CA371875741 | VPS13B | c.7422G>T (p.Trp2474Cys) n.7492G>T c.*3104G>T (n.*3104G>T) c.7347G>T (p.Trp2449Cys) n.378-1808G>T c.7419G>T (p.Trp2473Cys) c.7344G>T (p.Trp2448Cys) c.7044G>T (p.Trp2348Cys) c.4308G>T (p.Trp1436Cys) c.3201G>T (p.Trp1067Cys) n.1830+5604C>A c.7227G>T (p.Trp2409Cys) c.2979G>T (p.Trp993Cys) c.6207G>T (p.Trp2069Cys) | ClinVar |
8 | g.99776875T>A | CA371875743 | VPS13B | c.7423T>A (p.Phe2475Ile) n.7493T>A c.*3105T>A (n.*3105T>A) c.7348T>A (p.Phe2450Ile) n.378-1807T>A c.7420T>A (p.Phe2474Ile) c.7345T>A (p.Phe2449Ile) c.7045T>A (p.Phe2349Ile) c.4309T>A (p.Phe1437Ile) c.3202T>A (p.Phe1068Ile) n.1830+5603A>T c.7228T>A (p.Phe2410Ile) c.2980T>A (p.Phe994Ile) c.6208T>A (p.Phe2070Ile) | |
8 | g.99776875T>C | CA371875745 | VPS13B | c.7423T>C (p.Phe2475Leu) n.7493T>C c.*3105T>C (n.*3105T>C) c.7348T>C (p.Phe2450Leu) n.378-1807T>C c.7420T>C (p.Phe2474Leu) c.7345T>C (p.Phe2449Leu) c.7045T>C (p.Phe2349Leu) c.4309T>C (p.Phe1437Leu) c.3202T>C (p.Phe1068Leu) n.1830+5603A>G c.7228T>C (p.Phe2410Leu) c.2980T>C (p.Phe994Leu) c.6208T>C (p.Phe2070Leu) | COSMIC COSMIC |
8 | g.99776875T>G | CA371875744 | VPS13B | c.7423T>G (p.Phe2475Val) n.7493T>G c.*3105T>G (n.*3105T>G) c.7348T>G (p.Phe2450Val) n.378-1807T>G c.7420T>G (p.Phe2474Val) c.7345T>G (p.Phe2449Val) c.7045T>G (p.Phe2349Val) c.4309T>G (p.Phe1437Val) c.3202T>G (p.Phe1068Val) n.1830+5603A>C c.7228T>G (p.Phe2410Val) c.2980T>G (p.Phe994Val) c.6208T>G (p.Phe2070Val) | |
8 | g.99776876T>A | CA371875746 | VPS13B | c.7424T>A (p.Phe2475Tyr) n.7494T>A c.*3106T>A (n.*3106T>A) c.7349T>A (p.Phe2450Tyr) n.378-1806T>A c.7421T>A (p.Phe2474Tyr) c.7346T>A (p.Phe2449Tyr) c.7046T>A (p.Phe2349Tyr) c.4310T>A (p.Phe1437Tyr) c.3203T>A (p.Phe1068Tyr) n.1830+5602A>T c.7229T>A (p.Phe2410Tyr) c.2981T>A (p.Phe994Tyr) c.6209T>A (p.Phe2070Tyr) | |
8 | g.99776876T>C | CA371875747 | VPS13B | c.7424T>C (p.Phe2475Ser) n.7494T>C c.*3106T>C (n.*3106T>C) c.7349T>C (p.Phe2450Ser) n.378-1806T>C c.7421T>C (p.Phe2474Ser) c.7346T>C (p.Phe2449Ser) c.7046T>C (p.Phe2349Ser) c.4310T>C (p.Phe1437Ser) c.3203T>C (p.Phe1068Ser) n.1830+5602A>G c.7229T>C (p.Phe2410Ser) c.2981T>C (p.Phe994Ser) c.6209T>C (p.Phe2070Ser) | |
8 | g.99776876T>G | CA371875748 | VPS13B | c.7424T>G (p.Phe2475Cys) n.7494T>G c.*3106T>G (n.*3106T>G) c.7349T>G (p.Phe2450Cys) n.378-1806T>G c.7421T>G (p.Phe2474Cys) c.7346T>G (p.Phe2449Cys) c.7046T>G (p.Phe2349Cys) c.4310T>G (p.Phe1437Cys) c.3203T>G (p.Phe1068Cys) n.1830+5602A>C c.7229T>G (p.Phe2410Cys) c.2981T>G (p.Phe994Cys) c.6209T>G (p.Phe2070Cys) | |
8 | g.99776877T>A | CA371875749 | VPS13B | c.7425T>A (p.Phe2475Leu) n.7495T>A c.*3107T>A (n.*3107T>A) c.7350T>A (p.Phe2450Leu) n.378-1805T>A c.7422T>A (p.Phe2474Leu) c.7347T>A (p.Phe2449Leu) c.7047T>A (p.Phe2349Leu) c.4311T>A (p.Phe1437Leu) c.3204T>A (p.Phe1068Leu) n.1830+5601A>T c.7230T>A (p.Phe2410Leu) c.2982T>A (p.Phe994Leu) c.6210T>A (p.Phe2070Leu) | |
8 | g.99776877T>C | CA462449200 | VPS13B | c.7425T>C (p.Phe2475=) n.7495T>C c.*3107T>C (n.*3107T>C) c.7350T>C (p.Phe2450=) n.378-1805T>C c.7422T>C (p.Phe2474=) c.7347T>C (p.Phe2449=) c.7047T>C (p.Phe2349=) c.4311T>C (p.Phe1437=) c.3204T>C (p.Phe1068=) n.1830+5601A>G c.7230T>C (p.Phe2410=) c.2982T>C (p.Phe994=) c.6210T>C (p.Phe2070=) | |
8 | g.99776877T>G | CA371875750 | VPS13B | c.7425T>G (p.Phe2475Leu) n.7495T>G c.*3107T>G (n.*3107T>G) c.7350T>G (p.Phe2450Leu) n.378-1805T>G c.7422T>G (p.Phe2474Leu) c.7347T>G (p.Phe2449Leu) c.7047T>G (p.Phe2349Leu) c.4311T>G (p.Phe1437Leu) c.3204T>G (p.Phe1068Leu) n.1830+5601A>C c.7230T>G (p.Phe2410Leu) c.2982T>G (p.Phe994Leu) c.6210T>G (p.Phe2070Leu) | gnomAD v4 |
8 | g.99776878G>A | CA4824196 | VPS13B | c.7426G>A (p.Val2476Ile) n.7496G>A c.*3108G>A (n.*3108G>A) c.7351G>A (p.Val2451Ile) n.378-1804G>A c.7423G>A (p.Val2475Ile) c.7348G>A (p.Val2450Ile) c.7048G>A (p.Val2350Ile) c.4312G>A (p.Val1438Ile) c.3205G>A (p.Val1069Ile) n.1830+5600C>T c.7231G>A (p.Val2411Ile) c.2983G>A (p.Val995Ile) c.6211G>A (p.Val2071Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776878G>C | CA371875751 | VPS13B | c.7426G>C (p.Val2476Leu) n.7496G>C c.*3108G>C (n.*3108G>C) c.7351G>C (p.Val2451Leu) n.378-1804G>C c.7423G>C (p.Val2475Leu) c.7348G>C (p.Val2450Leu) c.7048G>C (p.Val2350Leu) c.4312G>C (p.Val1438Leu) c.3205G>C (p.Val1069Leu) n.1830+5600C>G c.7231G>C (p.Val2411Leu) c.2983G>C (p.Val995Leu) c.6211G>C (p.Val2071Leu) | |
8 | g.99776878G>T | CA371875752 | VPS13B | c.7426G>T (p.Val2476Phe) n.7496G>T c.*3108G>T (n.*3108G>T) c.7351G>T (p.Val2451Phe) n.378-1804G>T c.7423G>T (p.Val2475Phe) c.7348G>T (p.Val2450Phe) c.7048G>T (p.Val2350Phe) c.4312G>T (p.Val1438Phe) c.3205G>T (p.Val1069Phe) n.1830+5600C>A c.7231G>T (p.Val2411Phe) c.2983G>T (p.Val995Phe) c.6211G>T (p.Val2071Phe) | |
8 | g.99776879T>A | CA371875753 | VPS13B | c.7427T>A (p.Val2476Asp) n.7497T>A c.*3109T>A (n.*3109T>A) c.7352T>A (p.Val2451Asp) n.378-1803T>A c.7424T>A (p.Val2475Asp) c.7349T>A (p.Val2450Asp) c.7049T>A (p.Val2350Asp) c.4313T>A (p.Val1438Asp) c.3206T>A (p.Val1069Asp) n.1830+5599A>T c.7232T>A (p.Val2411Asp) c.2984T>A (p.Val995Asp) c.6212T>A (p.Val2071Asp) | |
8 | g.99776879T>C | CA371875754 | VPS13B | c.7427T>C (p.Val2476Ala) n.7497T>C c.*3109T>C (n.*3109T>C) c.7352T>C (p.Val2451Ala) n.378-1803T>C c.7424T>C (p.Val2475Ala) c.7349T>C (p.Val2450Ala) c.7049T>C (p.Val2350Ala) c.4313T>C (p.Val1438Ala) c.3206T>C (p.Val1069Ala) n.1830+5599A>G c.7232T>C (p.Val2411Ala) c.2984T>C (p.Val995Ala) c.6212T>C (p.Val2071Ala) | |
8 | g.99776879T>G | CA371875755 | VPS13B | c.7427T>G (p.Val2476Gly) n.7497T>G c.*3109T>G (n.*3109T>G) c.7352T>G (p.Val2451Gly) n.378-1803T>G c.7424T>G (p.Val2475Gly) c.7349T>G (p.Val2450Gly) c.7049T>G (p.Val2350Gly) c.4313T>G (p.Val1438Gly) c.3206T>G (p.Val1069Gly) n.1830+5599A>C c.7232T>G (p.Val2411Gly) c.2984T>G (p.Val995Gly) c.6212T>G (p.Val2071Gly) | |
8 | g.99776880C>A | CA462449201 | VPS13B | c.7428C>A (p.Val2476=) n.7498C>A c.*3110C>A (n.*3110C>A) c.7353C>A (p.Val2451=) n.378-1802C>A c.7425C>A (p.Val2475=) c.7350C>A (p.Val2450=) c.7050C>A (p.Val2350=) c.4314C>A (p.Val1438=) c.3207C>A (p.Val1069=) n.1830+5598G>T c.7233C>A (p.Val2411=) c.2985C>A (p.Val995=) c.6213C>A (p.Val2071=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776880C>G | CA462449202 | VPS13B | c.7428C>G (p.Val2476=) n.7498C>G c.*3110C>G (n.*3110C>G) c.7353C>G (p.Val2451=) n.378-1802C>G c.7425C>G (p.Val2475=) c.7350C>G (p.Val2450=) c.7050C>G (p.Val2350=) c.4314C>G (p.Val1438=) c.3207C>G (p.Val1069=) n.1830+5598G>C c.7233C>G (p.Val2411=) c.2985C>G (p.Val995=) c.6213C>G (p.Val2071=) | |
8 | g.99776880C>T | CA462449203 | VPS13B | c.7428C>T (p.Val2476=) n.7498C>T c.*3110C>T (n.*3110C>T) c.7353C>T (p.Val2451=) n.378-1802C>T c.7425C>T (p.Val2475=) c.7350C>T (p.Val2450=) c.7050C>T (p.Val2350=) c.4314C>T (p.Val1438=) c.3207C>T (p.Val1069=) n.1830+5598G>A c.7233C>T (p.Val2411=) c.2985C>T (p.Val995=) c.6213C>T (p.Val2071=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776881C>A | CA371875756 | VPS13B | c.7429C>A (p.Pro2477Thr) n.7499C>A c.*3111C>A (n.*3111C>A) c.7354C>A (p.Pro2452Thr) n.378-1801C>A c.7426C>A (p.Pro2476Thr) c.7351C>A (p.Pro2451Thr) c.7051C>A (p.Pro2351Thr) c.4315C>A (p.Pro1439Thr) c.3208C>A (p.Pro1070Thr) n.1830+5597G>T c.7234C>A (p.Pro2412Thr) c.2986C>A (p.Pro996Thr) c.6214C>A (p.Pro2072Thr) | |
8 | g.99776881C>G | CA371875758 | VPS13B | c.7429C>G (p.Pro2477Ala) n.7499C>G c.*3111C>G (n.*3111C>G) c.7354C>G (p.Pro2452Ala) n.378-1801C>G c.7426C>G (p.Pro2476Ala) c.7351C>G (p.Pro2451Ala) c.7051C>G (p.Pro2351Ala) c.4315C>G (p.Pro1439Ala) c.3208C>G (p.Pro1070Ala) n.1830+5597G>C c.7234C>G (p.Pro2412Ala) c.2986C>G (p.Pro996Ala) c.6214C>G (p.Pro2072Ala) | |
8 | g.99776881C>T | CA371875757 | VPS13B | c.7429C>T (p.Pro2477Ser) n.7499C>T c.*3111C>T (n.*3111C>T) c.7354C>T (p.Pro2452Ser) n.378-1801C>T c.7426C>T (p.Pro2476Ser) c.7351C>T (p.Pro2451Ser) c.7051C>T (p.Pro2351Ser) c.4315C>T (p.Pro1439Ser) c.3208C>T (p.Pro1070Ser) n.1830+5597G>A c.7234C>T (p.Pro2412Ser) c.2986C>T (p.Pro996Ser) c.6214C>T (p.Pro2072Ser) | |
8 | g.99776882C>A | CA371875759 | VPS13B | c.7430C>A (p.Pro2477Gln) n.7500C>A c.*3112C>A (n.*3112C>A) c.7355C>A (p.Pro2452Gln) n.378-1800C>A c.7427C>A (p.Pro2476Gln) c.7352C>A (p.Pro2451Gln) c.7052C>A (p.Pro2351Gln) c.4316C>A (p.Pro1439Gln) c.3209C>A (p.Pro1070Gln) n.1830+5596G>T c.7235C>A (p.Pro2412Gln) c.2987C>A (p.Pro996Gln) c.6215C>A (p.Pro2072Gln) | |
8 | g.99776882C>G | CA371875760 | VPS13B | c.7430C>G (p.Pro2477Arg) n.7500C>G c.*3112C>G (n.*3112C>G) c.7355C>G (p.Pro2452Arg) n.378-1800C>G c.7427C>G (p.Pro2476Arg) c.7352C>G (p.Pro2451Arg) c.7052C>G (p.Pro2351Arg) c.4316C>G (p.Pro1439Arg) c.3209C>G (p.Pro1070Arg) n.1830+5596G>C c.7235C>G (p.Pro2412Arg) c.2987C>G (p.Pro996Arg) c.6215C>G (p.Pro2072Arg) | |
8 | g.99776882C>T | CA371875761 | VPS13B | c.7430C>T (p.Pro2477Leu) n.7500C>T c.*3112C>T (n.*3112C>T) c.7355C>T (p.Pro2452Leu) n.378-1800C>T c.7427C>T (p.Pro2476Leu) c.7352C>T (p.Pro2451Leu) c.7052C>T (p.Pro2351Leu) c.4316C>T (p.Pro1439Leu) c.3209C>T (p.Pro1070Leu) n.1830+5596G>A c.7235C>T (p.Pro2412Leu) c.2987C>T (p.Pro996Leu) c.6215C>T (p.Pro2072Leu) | dbSNP gnomAD v4 |
8 | g.99776883A>C | CA462449206 | VPS13B | c.7431A>C (p.Pro2477=) n.7501A>C c.*3113A>C (n.*3113A>C) c.7356A>C (p.Pro2452=) n.378-1799A>C c.7428A>C (p.Pro2476=) c.7353A>C (p.Pro2451=) c.7053A>C (p.Pro2351=) c.4317A>C (p.Pro1439=) c.3210A>C (p.Pro1070=) n.1830+5595T>G c.7236A>C (p.Pro2412=) c.2988A>C (p.Pro996=) c.6216A>C (p.Pro2072=) | |
8 | g.99776883A>G | CA462449205 | VPS13B | c.7431A>G (p.Pro2477=) n.7501A>G c.*3113A>G (n.*3113A>G) c.7356A>G (p.Pro2452=) n.378-1799A>G c.7428A>G (p.Pro2476=) c.7353A>G (p.Pro2451=) c.7053A>G (p.Pro2351=) c.4317A>G (p.Pro1439=) c.3210A>G (p.Pro1070=) n.1830+5595T>C c.7236A>G (p.Pro2412=) c.2988A>G (p.Pro996=) c.6216A>G (p.Pro2072=) | |
8 | g.99776883A>T | CA462449204 | VPS13B | c.7431A>T (p.Pro2477=) n.7501A>T c.*3113A>T (n.*3113A>T) c.7356A>T (p.Pro2452=) n.378-1799A>T c.7428A>T (p.Pro2476=) c.7353A>T (p.Pro2451=) c.7053A>T (p.Pro2351=) c.4317A>T (p.Pro1439=) c.3210A>T (p.Pro1070=) n.1830+5595T>A c.7236A>T (p.Pro2412=) c.2988A>T (p.Pro996=) c.6216A>T (p.Pro2072=) | |
8 | g.99776884T>A | CA371875762 | VPS13B | c.7432T>A (p.Ser2478Thr) n.7502T>A c.*3114T>A (n.*3114T>A) c.7357T>A (p.Ser2453Thr) n.378-1798T>A c.7429T>A (p.Ser2477Thr) c.7354T>A (p.Ser2452Thr) c.7054T>A (p.Ser2352Thr) c.4318T>A (p.Ser1440Thr) c.3211T>A (p.Ser1071Thr) n.1830+5594A>T c.7237T>A (p.Ser2413Thr) c.2989T>A (p.Ser997Thr) c.6217T>A (p.Ser2073Thr) | |
8 | g.99776884T>C | CA371875763 | VPS13B | c.7432T>C (p.Ser2478Pro) n.7502T>C c.*3114T>C (n.*3114T>C) c.7357T>C (p.Ser2453Pro) n.378-1798T>C c.7429T>C (p.Ser2477Pro) c.7354T>C (p.Ser2452Pro) c.7054T>C (p.Ser2352Pro) c.4318T>C (p.Ser1440Pro) c.3211T>C (p.Ser1071Pro) n.1830+5594A>G c.7237T>C (p.Ser2413Pro) c.2989T>C (p.Ser997Pro) c.6217T>C (p.Ser2073Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776884T>G | CA371875764 | VPS13B | c.7432T>G (p.Ser2478Ala) n.7502T>G c.*3114T>G (n.*3114T>G) c.7357T>G (p.Ser2453Ala) n.378-1798T>G c.7429T>G (p.Ser2477Ala) c.7354T>G (p.Ser2452Ala) c.7054T>G (p.Ser2352Ala) c.4318T>G (p.Ser1440Ala) c.3211T>G (p.Ser1071Ala) n.1830+5594A>C c.7237T>G (p.Ser2413Ala) c.2989T>G (p.Ser997Ala) c.6217T>G (p.Ser2073Ala) | |
8 | g.99776885C>A | CA371875765 | VPS13B | c.7433C>A (p.Ser2478Tyr) n.7503C>A c.*3115C>A (n.*3115C>A) c.7358C>A (p.Ser2453Tyr) n.378-1797C>A c.7430C>A (p.Ser2477Tyr) c.7355C>A (p.Ser2452Tyr) c.7055C>A (p.Ser2352Tyr) c.4319C>A (p.Ser1440Tyr) c.3212C>A (p.Ser1071Tyr) n.1830+5593G>T c.7238C>A (p.Ser2413Tyr) c.2990C>A (p.Ser997Tyr) c.6218C>A (p.Ser2073Tyr) | gnomAD v4 |
8 | g.99776885C>G | CA371875766 | VPS13B | c.7433C>G (p.Ser2478Cys) n.7503C>G c.*3115C>G (n.*3115C>G) c.7358C>G (p.Ser2453Cys) n.378-1797C>G c.7430C>G (p.Ser2477Cys) c.7355C>G (p.Ser2452Cys) c.7055C>G (p.Ser2352Cys) c.4319C>G (p.Ser1440Cys) c.3212C>G (p.Ser1071Cys) n.1830+5593G>C c.7238C>G (p.Ser2413Cys) c.2990C>G (p.Ser997Cys) c.6218C>G (p.Ser2073Cys) | |
8 | g.99776885C>T | CA371875767 | VPS13B | c.7433C>T (p.Ser2478Phe) n.7503C>T c.*3115C>T (n.*3115C>T) c.7358C>T (p.Ser2453Phe) n.378-1797C>T c.7430C>T (p.Ser2477Phe) c.7355C>T (p.Ser2452Phe) c.7055C>T (p.Ser2352Phe) c.4319C>T (p.Ser1440Phe) c.3212C>T (p.Ser1071Phe) n.1830+5593G>A c.7238C>T (p.Ser2413Phe) c.2990C>T (p.Ser997Phe) c.6218C>T (p.Ser2073Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776886C>A | CA462449207 | VPS13B | c.7434C>A (p.Ser2478=) n.7504C>A c.*3116C>A (n.*3116C>A) c.7359C>A (p.Ser2453=) n.378-1796C>A c.7431C>A (p.Ser2477=) c.7356C>A (p.Ser2452=) c.7056C>A (p.Ser2352=) c.4320C>A (p.Ser1440=) c.3213C>A (p.Ser1071=) n.1830+5592G>T c.7239C>A (p.Ser2413=) c.2991C>A (p.Ser997=) c.6219C>A (p.Ser2073=) | |
8 | g.99776886C>G | CA462449208 | VPS13B | c.7434C>G (p.Ser2478=) n.7504C>G c.*3116C>G (n.*3116C>G) c.7359C>G (p.Ser2453=) n.378-1796C>G c.7431C>G (p.Ser2477=) c.7356C>G (p.Ser2452=) c.7056C>G (p.Ser2352=) c.4320C>G (p.Ser1440=) c.3213C>G (p.Ser1071=) n.1830+5592G>C c.7239C>G (p.Ser2413=) c.2991C>G (p.Ser997=) c.6219C>G (p.Ser2073=) | |
8 | g.99776886C>T | CA462449209 | VPS13B | c.7434C>T (p.Ser2478=) n.7504C>T c.*3116C>T (n.*3116C>T) c.7359C>T (p.Ser2453=) n.378-1796C>T c.7431C>T (p.Ser2477=) c.7356C>T (p.Ser2452=) c.7056C>T (p.Ser2352=) c.4320C>T (p.Ser1440=) c.3213C>T (p.Ser1071=) n.1830+5592G>A c.7239C>T (p.Ser2413=) c.2991C>T (p.Ser997=) c.6219C>T (p.Ser2073=) | |
8 | g.99776887C>A | CA371875769 | VPS13B | c.7435C>A (p.Leu2479Ile) n.7505C>A c.*3117C>A (n.*3117C>A) c.7360C>A (p.Leu2454Ile) n.378-1795C>A c.7432C>A (p.Leu2478Ile) c.7357C>A (p.Leu2453Ile) c.7057C>A (p.Leu2353Ile) c.4321C>A (p.Leu1441Ile) c.3214C>A (p.Leu1072Ile) n.1830+5591G>T c.7240C>A (p.Leu2414Ile) c.2992C>A (p.Leu998Ile) c.6220C>A (p.Leu2074Ile) | |
8 | g.99776887C>G | CA371875770 | VPS13B | c.7435C>G (p.Leu2479Val) n.7505C>G c.*3117C>G (n.*3117C>G) c.7360C>G (p.Leu2454Val) n.378-1795C>G c.7432C>G (p.Leu2478Val) c.7357C>G (p.Leu2453Val) c.7057C>G (p.Leu2353Val) c.4321C>G (p.Leu1441Val) c.3214C>G (p.Leu1072Val) n.1830+5591G>C c.7240C>G (p.Leu2414Val) c.2992C>G (p.Leu998Val) c.6220C>G (p.Leu2074Val) | |
8 | g.99776887C>T | CA371875768 | VPS13B | c.7435C>T (p.Leu2479Phe) n.7505C>T c.*3117C>T (n.*3117C>T) c.7360C>T (p.Leu2454Phe) n.378-1795C>T c.7432C>T (p.Leu2478Phe) c.7357C>T (p.Leu2453Phe) c.7057C>T (p.Leu2353Phe) c.4321C>T (p.Leu1441Phe) c.3214C>T (p.Leu1072Phe) n.1830+5591G>A c.7240C>T (p.Leu2414Phe) c.2992C>T (p.Leu998Phe) c.6220C>T (p.Leu2074Phe) | |
8 | g.99776888T>A | CA371875771 | VPS13B | c.7436T>A (p.Leu2479His) n.7506T>A c.*3118T>A (n.*3118T>A) c.7361T>A (p.Leu2454His) n.378-1794T>A c.7433T>A (p.Leu2478His) c.7358T>A (p.Leu2453His) c.7058T>A (p.Leu2353His) c.4322T>A (p.Leu1441His) c.3215T>A (p.Leu1072His) n.1830+5590A>T c.7241T>A (p.Leu2414His) c.2993T>A (p.Leu998His) c.6221T>A (p.Leu2074His) | |
8 | g.99776888T>C | CA371875772 | VPS13B | c.7436T>C (p.Leu2479Pro) n.7506T>C c.*3118T>C (n.*3118T>C) c.7361T>C (p.Leu2454Pro) n.378-1794T>C c.7433T>C (p.Leu2478Pro) c.7358T>C (p.Leu2453Pro) c.7058T>C (p.Leu2353Pro) c.4322T>C (p.Leu1441Pro) c.3215T>C (p.Leu1072Pro) n.1830+5590A>G c.7241T>C (p.Leu2414Pro) c.2993T>C (p.Leu998Pro) c.6221T>C (p.Leu2074Pro) | |
8 | g.99776888T>G | CA371875773 | VPS13B | c.7436T>G (p.Leu2479Arg) n.7506T>G c.*3118T>G (n.*3118T>G) c.7361T>G (p.Leu2454Arg) n.378-1794T>G c.7433T>G (p.Leu2478Arg) c.7358T>G (p.Leu2453Arg) c.7058T>G (p.Leu2353Arg) c.4322T>G (p.Leu1441Arg) c.3215T>G (p.Leu1072Arg) n.1830+5590A>C c.7241T>G (p.Leu2414Arg) c.2993T>G (p.Leu998Arg) c.6221T>G (p.Leu2074Arg) | |
8 | g.99776889T>A | CA462449210 | VPS13B | c.7437T>A (p.Leu2479=) n.7507T>A c.*3119T>A (n.*3119T>A) c.7362T>A (p.Leu2454=) n.378-1793T>A c.7434T>A (p.Leu2478=) c.7359T>A (p.Leu2453=) c.7059T>A (p.Leu2353=) c.4323T>A (p.Leu1441=) c.3216T>A (p.Leu1072=) n.1830+5589A>T c.7242T>A (p.Leu2414=) c.2994T>A (p.Leu998=) c.6222T>A (p.Leu2074=) | |
8 | g.99776889T>C | CA462449212 | VPS13B | c.7437T>C (p.Leu2479=) n.7507T>C c.*3119T>C (n.*3119T>C) c.7362T>C (p.Leu2454=) n.378-1793T>C c.7434T>C (p.Leu2478=) c.7359T>C (p.Leu2453=) c.7059T>C (p.Leu2353=) c.4323T>C (p.Leu1441=) c.3216T>C (p.Leu1072=) n.1830+5589A>G c.7242T>C (p.Leu2414=) c.2994T>C (p.Leu998=) c.6222T>C (p.Leu2074=) | ClinVar dbSNP |
8 | g.99776889T>G | CA462449211 | VPS13B | c.7437T>G (p.Leu2479=) n.7507T>G c.*3119T>G (n.*3119T>G) c.7362T>G (p.Leu2454=) n.378-1793T>G c.7434T>G (p.Leu2478=) c.7359T>G (p.Leu2453=) c.7059T>G (p.Leu2353=) c.4323T>G (p.Leu1441=) c.3216T>G (p.Leu1072=) n.1830+5589A>C c.7242T>G (p.Leu2414=) c.2994T>G (p.Leu998=) c.6222T>G (p.Leu2074=) | ClinVar |
8 | g.99776889_99776890insAG | CA2556541009 | VPS13B | c.7437_7438insAG (p.Cys2480SerfsTer21) n.7507_7508insAG c.*3119_*3120insAG (n.*3119_*3120insAG) c.7362_7363insAG (p.Cys2455SerfsTer21) n.378-1793_378-1792insAG c.7434_7435insAG (p.Cys2479SerfsTer21) c.7359_7360insAG (p.Cys2454SerfsTer21) c.7059_7060insAG (p.Cys2354SerfsTer21) c.4323_4324insAG (p.Cys1442SerfsTer21) c.3216_3217insAG (p.Cys1073SerfsTer21) n.1830+5588_1830+5589insCT c.7242_7243insAG (p.Cys2415SerfsTer21) c.2994_2995insAG (p.Cys999SerfsTer21) c.6222_6223insAG (p.Cys2075SerfsTer21) | |
8 | g.99776890T>A | CA371875774 | VPS13B | c.7438T>A (p.Cys2480Ser) n.7508T>A c.*3120T>A (n.*3120T>A) c.7363T>A (p.Cys2455Ser) n.378-1792T>A c.7435T>A (p.Cys2479Ser) c.7360T>A (p.Cys2454Ser) c.7060T>A (p.Cys2354Ser) c.4324T>A (p.Cys1442Ser) c.3217T>A (p.Cys1073Ser) n.1830+5588A>T c.7243T>A (p.Cys2415Ser) c.2995T>A (p.Cys999Ser) c.6223T>A (p.Cys2075Ser) | |
8 | g.99776890T>C | CA371875775 | VPS13B | c.7438T>C (p.Cys2480Arg) n.7508T>C c.*3120T>C (n.*3120T>C) c.7363T>C (p.Cys2455Arg) n.378-1792T>C c.7435T>C (p.Cys2479Arg) c.7360T>C (p.Cys2454Arg) c.7060T>C (p.Cys2354Arg) c.4324T>C (p.Cys1442Arg) c.3217T>C (p.Cys1073Arg) n.1830+5588A>G c.7243T>C (p.Cys2415Arg) c.2995T>C (p.Cys999Arg) c.6223T>C (p.Cys2075Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.99776890T>G | CA371875776 | VPS13B | c.7438T>G (p.Cys2480Gly) n.7508T>G c.*3120T>G (n.*3120T>G) c.7363T>G (p.Cys2455Gly) n.378-1792T>G c.7435T>G (p.Cys2479Gly) c.7360T>G (p.Cys2454Gly) c.7060T>G (p.Cys2354Gly) c.4324T>G (p.Cys1442Gly) c.3217T>G (p.Cys1073Gly) n.1830+5588A>C c.7243T>G (p.Cys2415Gly) c.2995T>G (p.Cys999Gly) c.6223T>G (p.Cys2075Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776891G>A | CA371875777 | VPS13B | c.7439G>A (p.Cys2480Tyr) n.7509G>A c.*3121G>A (n.*3121G>A) c.7364G>A (p.Cys2455Tyr) n.378-1791G>A c.7436G>A (p.Cys2479Tyr) c.7361G>A (p.Cys2454Tyr) c.7061G>A (p.Cys2354Tyr) c.4325G>A (p.Cys1442Tyr) c.3218G>A (p.Cys1073Tyr) n.1830+5587C>T c.7244G>A (p.Cys2415Tyr) c.2996G>A (p.Cys999Tyr) c.6224G>A (p.Cys2075Tyr) | |
8 | g.99776891G>C | CA4824197 | VPS13B | c.7439G>C (p.Cys2480Ser) n.7509G>C c.*3121G>C (n.*3121G>C) c.7364G>C (p.Cys2455Ser) n.378-1791G>C c.7436G>C (p.Cys2479Ser) c.7361G>C (p.Cys2454Ser) c.7061G>C (p.Cys2354Ser) c.4325G>C (p.Cys1442Ser) c.3218G>C (p.Cys1073Ser) n.1830+5587C>G c.7244G>C (p.Cys2415Ser) c.2996G>C (p.Cys999Ser) c.6224G>C (p.Cys2075Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776891G>T | CA371875778 | VPS13B | c.7439G>T (p.Cys2480Phe) n.7509G>T c.*3121G>T (n.*3121G>T) c.7364G>T (p.Cys2455Phe) n.378-1791G>T c.7436G>T (p.Cys2479Phe) c.7361G>T (p.Cys2454Phe) c.7061G>T (p.Cys2354Phe) c.4325G>T (p.Cys1442Phe) c.3218G>T (p.Cys1073Phe) n.1830+5587C>A c.7244G>T (p.Cys2415Phe) c.2996G>T (p.Cys999Phe) c.6224G>T (p.Cys2075Phe) | |
8 | g.99776892del | CA1139660680 | VPS13B | c.7440del (p.Cys2480TrpfsTer20) n.7510del c.*3122del (n.*3122del) c.7365del (p.Cys2455TrpfsTer20) n.378-1790del c.7437del (p.Cys2479TrpfsTer20) c.7362del (p.Cys2454TrpfsTer20) c.7062del (p.Cys2354TrpfsTer20) c.4326del (p.Cys1442TrpfsTer20) c.3219del (p.Cys1073TrpfsTer20) n.1830+5586del c.7245del (p.Cys2415TrpfsTer20) c.2997del (p.Cys999TrpfsTer20) c.6225del (p.Cys2075TrpfsTer20) | ClinVar dbSNP |
8 | g.99776892C>A | CA371875779 | VPS13B | c.7440C>A (p.Cys2480Ter) n.7510C>A c.*3122C>A (n.*3122C>A) c.7365C>A (p.Cys2455Ter) n.378-1790C>A c.7437C>A (p.Cys2479Ter) c.7362C>A (p.Cys2454Ter) c.7062C>A (p.Cys2354Ter) c.4326C>A (p.Cys1442Ter) c.3219C>A (p.Cys1073Ter) n.1830+5586G>T c.7245C>A (p.Cys2415Ter) c.2997C>A (p.Cys999Ter) c.6225C>A (p.Cys2075Ter) | |
8 | g.99776892C>G | CA371875780 | VPS13B | c.7440C>G (p.Cys2480Trp) n.7510C>G c.*3122C>G (n.*3122C>G) c.7365C>G (p.Cys2455Trp) n.378-1790C>G c.7437C>G (p.Cys2479Trp) c.7362C>G (p.Cys2454Trp) c.7062C>G (p.Cys2354Trp) c.4326C>G (p.Cys1442Trp) c.3219C>G (p.Cys1073Trp) n.1830+5586G>C c.7245C>G (p.Cys2415Trp) c.2997C>G (p.Cys999Trp) c.6225C>G (p.Cys2075Trp) | |
8 | g.99776892C>T | CA4824198 | VPS13B | c.7440C>T (p.Cys2480=) n.7510C>T c.*3122C>T (n.*3122C>T) c.7365C>T (p.Cys2455=) n.378-1790C>T c.7437C>T (p.Cys2479=) c.7362C>T (p.Cys2454=) c.7062C>T (p.Cys2354=) c.4326C>T (p.Cys1442=) c.3219C>T (p.Cys1073=) n.1830+5586G>A c.7245C>T (p.Cys2415=) c.2997C>T (p.Cys999=) c.6225C>T (p.Cys2075=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99776893G>A | CA223484 | VPS13B | c.7441G>A (p.Val2481Ile) n.7511G>A c.*3123G>A (n.*3123G>A) c.7366G>A (p.Val2456Ile) n.378-1789G>A c.7438G>A (p.Val2480Ile) c.7363G>A (p.Val2455Ile) c.7063G>A (p.Val2355Ile) c.4327G>A (p.Val1443Ile) c.3220G>A (p.Val1074Ile) n.1830+5585C>T c.7246G>A (p.Val2416Ile) c.2998G>A (p.Val1000Ile) c.6226G>A (p.Val2076Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776893G>C | CA371875781 | VPS13B | c.7441G>C (p.Val2481Leu) n.7511G>C c.*3123G>C (n.*3123G>C) c.7366G>C (p.Val2456Leu) n.378-1789G>C c.7438G>C (p.Val2480Leu) c.7363G>C (p.Val2455Leu) c.7063G>C (p.Val2355Leu) c.4327G>C (p.Val1443Leu) c.3220G>C (p.Val1074Leu) n.1830+5585C>G c.7246G>C (p.Val2416Leu) c.2998G>C (p.Val1000Leu) c.6226G>C (p.Val2076Leu) | |
8 | g.99776893G= | CA2838156446 | VPS13B | c.7441G= (p.Val2481=) n.7511G= c.*3123G= (n.*3123G=) c.7366G= (p.Val2456=) n.378-1789G= c.7438G= (p.Val2480=) c.7363G= (p.Val2455=) c.7063G= (p.Val2355=) c.4327G= (p.Val1443=) c.3220G= (p.Val1074=) n.1830+5585C= c.7246G= (p.Val2416=) c.2998G= (p.Val1000=) c.6226G= (p.Val2076=) | |
8 | g.99776893G>T | CA371875782 | VPS13B | c.7441G>T (p.Val2481Phe) n.7511G>T c.*3123G>T (n.*3123G>T) c.7366G>T (p.Val2456Phe) n.378-1789G>T c.7438G>T (p.Val2480Phe) c.7363G>T (p.Val2455Phe) c.7063G>T (p.Val2355Phe) c.4327G>T (p.Val1443Phe) c.3220G>T (p.Val1074Phe) n.1830+5585C>A c.7246G>T (p.Val2416Phe) c.2998G>T (p.Val1000Phe) c.6226G>T (p.Val2076Phe) | |
8 | g.99776894T>A | CA371875783 | VPS13B | c.7442T>A (p.Val2481Asp) n.7512T>A c.*3124T>A (n.*3124T>A) c.7367T>A (p.Val2456Asp) n.378-1788T>A c.7439T>A (p.Val2480Asp) c.7364T>A (p.Val2455Asp) c.7064T>A (p.Val2355Asp) c.4328T>A (p.Val1443Asp) c.3221T>A (p.Val1074Asp) n.1830+5584A>T c.7247T>A (p.Val2416Asp) c.2999T>A (p.Val1000Asp) c.6227T>A (p.Val2076Asp) | |
8 | g.99776894T>C | CA371875784 | VPS13B | c.7442T>C (p.Val2481Ala) n.7512T>C c.*3124T>C (n.*3124T>C) c.7367T>C (p.Val2456Ala) n.378-1788T>C c.7439T>C (p.Val2480Ala) c.7364T>C (p.Val2455Ala) c.7064T>C (p.Val2355Ala) c.4328T>C (p.Val1443Ala) c.3221T>C (p.Val1074Ala) n.1830+5584A>G c.7247T>C (p.Val2416Ala) c.2999T>C (p.Val1000Ala) c.6227T>C (p.Val2076Ala) | ClinVar dbSNP |
8 | g.99776894T>G | CA371875785 | VPS13B | c.7442T>G (p.Val2481Gly) n.7512T>G c.*3124T>G (n.*3124T>G) c.7367T>G (p.Val2456Gly) n.378-1788T>G c.7439T>G (p.Val2480Gly) c.7364T>G (p.Val2455Gly) c.7064T>G (p.Val2355Gly) c.4328T>G (p.Val1443Gly) c.3221T>G (p.Val1074Gly) n.1830+5584A>C c.7247T>G (p.Val2416Gly) c.2999T>G (p.Val1000Gly) c.6227T>G (p.Val2076Gly) | |
8 | g.99776896del | CA2688068077 | VPS13B | c.7444del (p.Ser2482LeufsTer18) n.7514del c.*3126del (n.*3126del) c.7369del (p.Ser2457LeufsTer18) n.378-1786del c.7441del (p.Ser2481LeufsTer18) c.7366del (p.Ser2456LeufsTer18) c.7066del (p.Ser2356LeufsTer18) c.4330del (p.Ser1444LeufsTer18) c.3223del (p.Ser1075LeufsTer18) n.1830+5584del c.7249del (p.Ser2417LeufsTer18) c.3001del (p.Ser1001LeufsTer18) c.6229del (p.Ser2077LeufsTer18) | gnomAD v4 |
8 | g.99776898_99776901del | CA857581703 | VPS13B | c.7446_7449del (p.Phe2483SerfsTer16) n.7516_7519del c.*3128_*3131del (n.*3128_*3131del) c.7371_7374del (p.Phe2458SerfsTer16) n.378-1784_378-1781del c.7443_7446del (p.Phe2482SerfsTer16) c.7368_7371del (p.Phe2457SerfsTer16) c.7068_7071del (p.Phe2357SerfsTer16) c.4332_4335del (p.Phe1445SerfsTer16) c.3225_3228del (p.Phe1076SerfsTer16) n.1830+5581_1830+5584del c.7251_7254del (p.Phe2418SerfsTer16) c.3003_3006del (p.Phe1002SerfsTer16) c.6231_6234del (p.Phe2078SerfsTer16) | dbSNP |
8 | g.99776895T>A | CA462449213 | VPS13B | c.7443T>A (p.Val2481=) n.7513T>A c.*3125T>A (n.*3125T>A) c.7368T>A (p.Val2456=) n.378-1787T>A c.7440T>A (p.Val2480=) c.7365T>A (p.Val2455=) c.7065T>A (p.Val2355=) c.4329T>A (p.Val1443=) c.3222T>A (p.Val1074=) n.1830+5583A>T c.7248T>A (p.Val2416=) c.3000T>A (p.Val1000=) c.6228T>A (p.Val2076=) | |
8 | g.99776895T>C | CA462449215 | VPS13B | c.7443T>C (p.Val2481=) n.7513T>C c.*3125T>C (n.*3125T>C) c.7368T>C (p.Val2456=) n.378-1787T>C c.7440T>C (p.Val2480=) c.7365T>C (p.Val2455=) c.7065T>C (p.Val2355=) c.4329T>C (p.Val1443=) c.3222T>C (p.Val1074=) n.1830+5583A>G c.7248T>C (p.Val2416=) c.3000T>C (p.Val1000=) c.6228T>C (p.Val2076=) | |
8 | g.99776895T>G | CA462449214 | VPS13B | c.7443T>G (p.Val2481=) n.7513T>G c.*3125T>G (n.*3125T>G) c.7368T>G (p.Val2456=) n.378-1787T>G c.7440T>G (p.Val2480=) c.7365T>G (p.Val2455=) c.7065T>G (p.Val2355=) c.4329T>G (p.Val1443=) c.3222T>G (p.Val1074=) n.1830+5583A>C c.7248T>G (p.Val2416=) c.3000T>G (p.Val1000=) c.6228T>G (p.Val2076=) | |
8 | g.99776896T>A | CA371875786 | VPS13B | c.7444T>A (p.Ser2482Thr) n.7514T>A c.*3126T>A (n.*3126T>A) c.7369T>A (p.Ser2457Thr) n.378-1786T>A c.7441T>A (p.Ser2481Thr) c.7366T>A (p.Ser2456Thr) c.7066T>A (p.Ser2356Thr) c.4330T>A (p.Ser1444Thr) c.3223T>A (p.Ser1075Thr) n.1830+5582A>T c.7249T>A (p.Ser2417Thr) c.3001T>A (p.Ser1001Thr) c.6229T>A (p.Ser2077Thr) | |
8 | g.99776896T>C | CA371875787 | VPS13B | c.7444T>C (p.Ser2482Pro) n.7514T>C c.*3126T>C (n.*3126T>C) c.7369T>C (p.Ser2457Pro) n.378-1786T>C c.7441T>C (p.Ser2481Pro) c.7366T>C (p.Ser2456Pro) c.7066T>C (p.Ser2356Pro) c.4330T>C (p.Ser1444Pro) c.3223T>C (p.Ser1075Pro) n.1830+5582A>G c.7249T>C (p.Ser2417Pro) c.3001T>C (p.Ser1001Pro) c.6229T>C (p.Ser2077Pro) | |
8 | g.99776896T>G | CA371875788 | VPS13B | c.7444T>G (p.Ser2482Ala) n.7514T>G c.*3126T>G (n.*3126T>G) c.7369T>G (p.Ser2457Ala) n.378-1786T>G c.7441T>G (p.Ser2481Ala) c.7366T>G (p.Ser2456Ala) c.7066T>G (p.Ser2356Ala) c.4330T>G (p.Ser1444Ala) c.3223T>G (p.Ser1075Ala) n.1830+5582A>C c.7249T>G (p.Ser2417Ala) c.3001T>G (p.Ser1001Ala) c.6229T>G (p.Ser2077Ala) | |
8 | g.99776897C>A | CA371875789 | VPS13B | c.7445C>A (p.Ser2482Tyr) n.7515C>A c.*3127C>A (n.*3127C>A) c.7370C>A (p.Ser2457Tyr) n.378-1785C>A c.7442C>A (p.Ser2481Tyr) c.7367C>A (p.Ser2456Tyr) c.7067C>A (p.Ser2356Tyr) c.4331C>A (p.Ser1444Tyr) c.3224C>A (p.Ser1075Tyr) n.1830+5581G>T c.7250C>A (p.Ser2417Tyr) c.3002C>A (p.Ser1001Tyr) c.6230C>A (p.Ser2077Tyr) | |
8 | g.99776897C>G | CA4824199 | VPS13B | c.7445C>G (p.Ser2482Cys) n.7515C>G c.*3127C>G (n.*3127C>G) c.7370C>G (p.Ser2457Cys) n.378-1785C>G c.7442C>G (p.Ser2481Cys) c.7367C>G (p.Ser2456Cys) c.7067C>G (p.Ser2356Cys) c.4331C>G (p.Ser1444Cys) c.3224C>G (p.Ser1075Cys) n.1830+5581G>C c.7250C>G (p.Ser2417Cys) c.3002C>G (p.Ser1001Cys) c.6230C>G (p.Ser2077Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776897C>T | CA371875790 | VPS13B | c.7445C>T (p.Ser2482Phe) n.7515C>T c.*3127C>T (n.*3127C>T) c.7370C>T (p.Ser2457Phe) n.378-1785C>T c.7442C>T (p.Ser2481Phe) c.7367C>T (p.Ser2456Phe) c.7067C>T (p.Ser2356Phe) c.4331C>T (p.Ser1444Phe) c.3224C>T (p.Ser1075Phe) n.1830+5581G>A c.7250C>T (p.Ser2417Phe) c.3002C>T (p.Ser1001Phe) c.6230C>T (p.Ser2077Phe) | |
8 | g.99776898T>A | CA462449216 | VPS13B | c.7446T>A (p.Ser2482=) n.7516T>A c.*3128T>A (n.*3128T>A) c.7371T>A (p.Ser2457=) n.378-1784T>A c.7443T>A (p.Ser2481=) c.7368T>A (p.Ser2456=) c.7068T>A (p.Ser2356=) c.4332T>A (p.Ser1444=) c.3225T>A (p.Ser1075=) n.1830+5580A>T c.7251T>A (p.Ser2417=) c.3003T>A (p.Ser1001=) c.6231T>A (p.Ser2077=) | |
8 | g.99776898T>C | CA4824200 | VPS13B | c.7446T>C (p.Ser2482=) n.7516T>C c.*3128T>C (n.*3128T>C) c.7371T>C (p.Ser2457=) n.378-1784T>C c.7443T>C (p.Ser2481=) c.7368T>C (p.Ser2456=) c.7068T>C (p.Ser2356=) c.4332T>C (p.Ser1444=) c.3225T>C (p.Ser1075=) n.1830+5580A>G c.7251T>C (p.Ser2417=) c.3003T>C (p.Ser1001=) c.6231T>C (p.Ser2077=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776898T>G | CA462449217 | VPS13B | c.7446T>G (p.Ser2482=) n.7516T>G c.*3128T>G (n.*3128T>G) c.7371T>G (p.Ser2457=) n.378-1784T>G c.7443T>G (p.Ser2481=) c.7368T>G (p.Ser2456=) c.7068T>G (p.Ser2356=) c.4332T>G (p.Ser1444=) c.3225T>G (p.Ser1075=) n.1830+5580A>C c.7251T>G (p.Ser2417=) c.3003T>G (p.Ser1001=) c.6231T>G (p.Ser2077=) | |
8 | g.99776899T>A | CA371875791 | VPS13B | c.7447T>A (p.Phe2483Ile) n.7517T>A c.*3129T>A (n.*3129T>A) c.7372T>A (p.Phe2458Ile) n.378-1783T>A c.7444T>A (p.Phe2482Ile) c.7369T>A (p.Phe2457Ile) c.7069T>A (p.Phe2357Ile) c.4333T>A (p.Phe1445Ile) c.3226T>A (p.Phe1076Ile) n.1830+5579A>T c.7252T>A (p.Phe2418Ile) c.3004T>A (p.Phe1002Ile) c.6232T>A (p.Phe2078Ile) | |
8 | g.99776899T>C | CA371875792 | VPS13B | c.7447T>C (p.Phe2483Leu) n.7517T>C c.*3129T>C (n.*3129T>C) c.7372T>C (p.Phe2458Leu) n.378-1783T>C c.7444T>C (p.Phe2482Leu) c.7369T>C (p.Phe2457Leu) c.7069T>C (p.Phe2357Leu) c.4333T>C (p.Phe1445Leu) c.3226T>C (p.Phe1076Leu) n.1830+5579A>G c.7252T>C (p.Phe2418Leu) c.3004T>C (p.Phe1002Leu) c.6232T>C (p.Phe2078Leu) | |
8 | g.99776899T>G | CA371875793 | VPS13B | c.7447T>G (p.Phe2483Val) n.7517T>G c.*3129T>G (n.*3129T>G) c.7372T>G (p.Phe2458Val) n.378-1783T>G c.7444T>G (p.Phe2482Val) c.7369T>G (p.Phe2457Val) c.7069T>G (p.Phe2357Val) c.4333T>G (p.Phe1445Val) c.3226T>G (p.Phe1076Val) n.1830+5579A>C c.7252T>G (p.Phe2418Val) c.3004T>G (p.Phe1002Val) c.6232T>G (p.Phe2078Val) | |
8 | g.99776900T>A | CA371875795 | VPS13B | c.7448T>A (p.Phe2483Tyr) n.7518T>A c.*3130T>A (n.*3130T>A) c.7373T>A (p.Phe2458Tyr) n.378-1782T>A c.7445T>A (p.Phe2482Tyr) c.7370T>A (p.Phe2457Tyr) c.7070T>A (p.Phe2357Tyr) c.4334T>A (p.Phe1445Tyr) c.3227T>A (p.Phe1076Tyr) n.1830+5578A>T c.7253T>A (p.Phe2418Tyr) c.3005T>A (p.Phe1002Tyr) c.6233T>A (p.Phe2078Tyr) | |
8 | g.99776900T>C | CA371875796 | VPS13B | c.7448T>C (p.Phe2483Ser) n.7518T>C c.*3130T>C (n.*3130T>C) c.7373T>C (p.Phe2458Ser) n.378-1782T>C c.7445T>C (p.Phe2482Ser) c.7370T>C (p.Phe2457Ser) c.7070T>C (p.Phe2357Ser) c.4334T>C (p.Phe1445Ser) c.3227T>C (p.Phe1076Ser) n.1830+5578A>G c.7253T>C (p.Phe2418Ser) c.3005T>C (p.Phe1002Ser) c.6233T>C (p.Phe2078Ser) | gnomAD v4 |
8 | g.99776900T>G | CA371875794 | VPS13B | c.7448T>G (p.Phe2483Cys) n.7518T>G c.*3130T>G (n.*3130T>G) c.7373T>G (p.Phe2458Cys) n.378-1782T>G c.7445T>G (p.Phe2482Cys) c.7370T>G (p.Phe2457Cys) c.7070T>G (p.Phe2357Cys) c.4334T>G (p.Phe1445Cys) c.3227T>G (p.Phe1076Cys) n.1830+5578A>C c.7253T>G (p.Phe2418Cys) c.3005T>G (p.Phe1002Cys) c.6233T>G (p.Phe2078Cys) | |
8 | g.99776901C>A | CA371875798 | VPS13B | c.7449C>A (p.Phe2483Leu) n.7519C>A c.*3131C>A (n.*3131C>A) c.7374C>A (p.Phe2458Leu) n.378-1781C>A c.7446C>A (p.Phe2482Leu) c.7371C>A (p.Phe2457Leu) c.7071C>A (p.Phe2357Leu) c.4335C>A (p.Phe1445Leu) c.3228C>A (p.Phe1076Leu) n.1830+5577G>T c.7254C>A (p.Phe2418Leu) c.3006C>A (p.Phe1002Leu) c.6234C>A (p.Phe2078Leu) | |
8 | g.99776901C>G | CA371875797 | VPS13B | c.7449C>G (p.Phe2483Leu) n.7519C>G c.*3131C>G (n.*3131C>G) c.7374C>G (p.Phe2458Leu) n.378-1781C>G c.7446C>G (p.Phe2482Leu) c.7371C>G (p.Phe2457Leu) c.7071C>G (p.Phe2357Leu) c.4335C>G (p.Phe1445Leu) c.3228C>G (p.Phe1076Leu) n.1830+5577G>C c.7254C>G (p.Phe2418Leu) c.3006C>G (p.Phe1002Leu) c.6234C>G (p.Phe2078Leu) | |
8 | g.99776901C>T | CA462449218 | VPS13B | c.7449C>T (p.Phe2483=) n.7519C>T c.*3131C>T (n.*3131C>T) c.7374C>T (p.Phe2458=) n.378-1781C>T c.7446C>T (p.Phe2482=) c.7371C>T (p.Phe2457=) c.7071C>T (p.Phe2357=) c.4335C>T (p.Phe1445=) c.3228C>T (p.Phe1076=) n.1830+5577G>A c.7254C>T (p.Phe2418=) c.3006C>T (p.Phe1002=) c.6234C>T (p.Phe2078=) | ClinVar gnomAD v4 |
8 | g.99776902C>A | CA371875799 | VPS13B | c.7450C>A (p.Gln2484Lys) n.7520C>A c.*3132C>A (n.*3132C>A) c.7375C>A (p.Gln2459Lys) n.378-1780C>A c.7447C>A (p.Gln2483Lys) c.7372C>A (p.Gln2458Lys) c.7072C>A (p.Gln2358Lys) c.4336C>A (p.Gln1446Lys) c.3229C>A (p.Gln1077Lys) n.1830+5576G>T c.7255C>A (p.Gln2419Lys) c.3007C>A (p.Gln1003Lys) c.6235C>A (p.Gln2079Lys) | |
8 | g.99776902C>G | CA371875800 | VPS13B | c.7450C>G (p.Gln2484Glu) n.7520C>G c.*3132C>G (n.*3132C>G) c.7375C>G (p.Gln2459Glu) n.378-1780C>G c.7447C>G (p.Gln2483Glu) c.7372C>G (p.Gln2458Glu) c.7072C>G (p.Gln2358Glu) c.4336C>G (p.Gln1446Glu) c.3229C>G (p.Gln1077Glu) n.1830+5576G>C c.7255C>G (p.Gln2419Glu) c.3007C>G (p.Gln1003Glu) c.6235C>G (p.Gln2079Glu) | |
8 | g.99776902C>T | CA371875801 | VPS13B | c.7450C>T (p.Gln2484Ter) n.7520C>T c.*3132C>T (n.*3132C>T) c.7375C>T (p.Gln2459Ter) n.378-1780C>T c.7447C>T (p.Gln2483Ter) c.7372C>T (p.Gln2458Ter) c.7072C>T (p.Gln2358Ter) c.4336C>T (p.Gln1446Ter) c.3229C>T (p.Gln1077Ter) n.1830+5576G>A c.7255C>T (p.Gln2419Ter) c.3007C>T (p.Gln1003Ter) c.6235C>T (p.Gln2079Ter) | |
8 | g.99776903_99776909del | CA2497230830 | VPS13B | c.7451_7457del (p.Gln2484LeufsTer14) n.7521_7527del c.*3133_*3139del (n.*3133_*3139del) c.7376_7382del (p.Gln2459LeufsTer14) n.378-1779_378-1773del c.7448_7454del (p.Gln2483LeufsTer14) c.7373_7379del (p.Gln2458LeufsTer14) c.7073_7079del (p.Gln2358LeufsTer14) c.4337_4343del (p.Gln1446LeufsTer14) c.3230_3236del (p.Gln1077LeufsTer14) n.1830+5570_1830+5576del c.7256_7262del (p.Gln2419LeufsTer14) c.3008_3014del (p.Gln1003LeufsTer14) c.6236_6242del (p.Gln2079LeufsTer14) | dbSNP |
8 | g.99776903A>C | CA371875802 | VPS13B | c.7451A>C (p.Gln2484Pro) n.7521A>C c.*3133A>C (n.*3133A>C) c.7376A>C (p.Gln2459Pro) n.378-1779A>C c.7448A>C (p.Gln2483Pro) c.7373A>C (p.Gln2458Pro) c.7073A>C (p.Gln2358Pro) c.4337A>C (p.Gln1446Pro) c.3230A>C (p.Gln1077Pro) n.1830+5575T>G c.7256A>C (p.Gln2419Pro) c.3008A>C (p.Gln1003Pro) c.6236A>C (p.Gln2079Pro) | |
8 | g.99776903A>G | CA371875803 | VPS13B | c.7451A>G (p.Gln2484Arg) n.7521A>G c.*3133A>G (n.*3133A>G) c.7376A>G (p.Gln2459Arg) n.378-1779A>G c.7448A>G (p.Gln2483Arg) c.7373A>G (p.Gln2458Arg) c.7073A>G (p.Gln2358Arg) c.4337A>G (p.Gln1446Arg) c.3230A>G (p.Gln1077Arg) n.1830+5575T>C c.7256A>G (p.Gln2419Arg) c.3008A>G (p.Gln1003Arg) c.6236A>G (p.Gln2079Arg) | |
8 | g.99776903A>T | CA371875804 | VPS13B | c.7451A>T (p.Gln2484Leu) n.7521A>T c.*3133A>T (n.*3133A>T) c.7376A>T (p.Gln2459Leu) n.378-1779A>T c.7448A>T (p.Gln2483Leu) c.7373A>T (p.Gln2458Leu) c.7073A>T (p.Gln2358Leu) c.4337A>T (p.Gln1446Leu) c.3230A>T (p.Gln1077Leu) n.1830+5575T>A c.7256A>T (p.Gln2419Leu) c.3008A>T (p.Gln1003Leu) c.6236A>T (p.Gln2079Leu) | |
8 | g.99776904G>A | CA462449219 | VPS13B | c.7452G>A (p.Gln2484=) n.7522G>A c.*3134G>A (n.*3134G>A) c.7377G>A (p.Gln2459=) n.378-1778G>A c.7449G>A (p.Gln2483=) c.7374G>A (p.Gln2458=) c.7074G>A (p.Gln2358=) c.4338G>A (p.Gln1446=) c.3231G>A (p.Gln1077=) n.1830+5574C>T c.7257G>A (p.Gln2419=) c.3009G>A (p.Gln1003=) c.6237G>A (p.Gln2079=) | |
8 | g.99776904G>C | CA371875805 | VPS13B | c.7452G>C (p.Gln2484His) n.7522G>C c.*3134G>C (n.*3134G>C) c.7377G>C (p.Gln2459His) n.378-1778G>C c.7449G>C (p.Gln2483His) c.7374G>C (p.Gln2458His) c.7074G>C (p.Gln2358His) c.4338G>C (p.Gln1446His) c.3231G>C (p.Gln1077His) n.1830+5574C>G c.7257G>C (p.Gln2419His) c.3009G>C (p.Gln1003His) c.6237G>C (p.Gln2079His) | ClinVar gnomAD v4 |
8 | g.99776904G>T | CA371875806 | VPS13B | c.7452G>T (p.Gln2484His) n.7522G>T c.*3134G>T (n.*3134G>T) c.7377G>T (p.Gln2459His) n.378-1778G>T c.7449G>T (p.Gln2483His) c.7374G>T (p.Gln2458His) c.7074G>T (p.Gln2358His) c.4338G>T (p.Gln1446His) c.3231G>T (p.Gln1077His) n.1830+5574C>A c.7257G>T (p.Gln2419His) c.3009G>T (p.Gln1003His) c.6237G>T (p.Gln2079His) | |
8 | g.99776905T>A | CA371875807 | VPS13B | c.7453T>A (p.Phe2485Ile) n.7523T>A c.*3135T>A (n.*3135T>A) c.7378T>A (p.Phe2460Ile) n.378-1777T>A c.7450T>A (p.Phe2484Ile) c.7375T>A (p.Phe2459Ile) c.7075T>A (p.Phe2359Ile) c.4339T>A (p.Phe1447Ile) c.3232T>A (p.Phe1078Ile) n.1830+5573A>T c.7258T>A (p.Phe2420Ile) c.3010T>A (p.Phe1004Ile) c.6238T>A (p.Phe2080Ile) | |
8 | g.99776905T>C | CA371875808 | VPS13B | c.7453T>C (p.Phe2485Leu) n.7523T>C c.*3135T>C (n.*3135T>C) c.7378T>C (p.Phe2460Leu) n.378-1777T>C c.7450T>C (p.Phe2484Leu) c.7375T>C (p.Phe2459Leu) c.7075T>C (p.Phe2359Leu) c.4339T>C (p.Phe1447Leu) c.3232T>C (p.Phe1078Leu) n.1830+5573A>G c.7258T>C (p.Phe2420Leu) c.3010T>C (p.Phe1004Leu) c.6238T>C (p.Phe2080Leu) | dbSNP |
8 | g.99776905T>G | CA371875809 | VPS13B | c.7453T>G (p.Phe2485Val) n.7523T>G c.*3135T>G (n.*3135T>G) c.7378T>G (p.Phe2460Val) n.378-1777T>G c.7450T>G (p.Phe2484Val) c.7375T>G (p.Phe2459Val) c.7075T>G (p.Phe2359Val) c.4339T>G (p.Phe1447Val) c.3232T>G (p.Phe1078Val) n.1830+5573A>C c.7258T>G (p.Phe2420Val) c.3010T>G (p.Phe1004Val) c.6238T>G (p.Phe2080Val) | |
8 | g.99776906T>A | CA371875811 | VPS13B | c.7454T>A (p.Phe2485Tyr) n.7524T>A c.*3136T>A (n.*3136T>A) c.7379T>A (p.Phe2460Tyr) n.378-1776T>A c.7451T>A (p.Phe2484Tyr) c.7376T>A (p.Phe2459Tyr) c.7076T>A (p.Phe2359Tyr) c.4340T>A (p.Phe1447Tyr) c.3233T>A (p.Phe1078Tyr) n.1830+5572A>T c.7259T>A (p.Phe2420Tyr) c.3011T>A (p.Phe1004Tyr) c.6239T>A (p.Phe2080Tyr) | dbSNP |
8 | g.99776906T>C | CA371875812 | VPS13B | c.7454T>C (p.Phe2485Ser) n.7524T>C c.*3136T>C (n.*3136T>C) c.7379T>C (p.Phe2460Ser) n.378-1776T>C c.7451T>C (p.Phe2484Ser) c.7376T>C (p.Phe2459Ser) c.7076T>C (p.Phe2359Ser) c.4340T>C (p.Phe1447Ser) c.3233T>C (p.Phe1078Ser) n.1830+5572A>G c.7259T>C (p.Phe2420Ser) c.3011T>C (p.Phe1004Ser) c.6239T>C (p.Phe2080Ser) | |
8 | g.99776906T>G | CA371875810 | VPS13B | c.7454T>G (p.Phe2485Cys) n.7524T>G c.*3136T>G (n.*3136T>G) c.7379T>G (p.Phe2460Cys) n.378-1776T>G c.7451T>G (p.Phe2484Cys) c.7376T>G (p.Phe2459Cys) c.7076T>G (p.Phe2359Cys) c.4340T>G (p.Phe1447Cys) c.3233T>G (p.Phe1078Cys) n.1830+5572A>C c.7259T>G (p.Phe2420Cys) c.3011T>G (p.Phe1004Cys) c.6239T>G (p.Phe2080Cys) | |
8 | g.99776907T>A | CA371875813 | VPS13B | c.7455T>A (p.Phe2485Leu) n.7525T>A c.*3137T>A (n.*3137T>A) c.7380T>A (p.Phe2460Leu) n.378-1775T>A c.7452T>A (p.Phe2484Leu) c.7377T>A (p.Phe2459Leu) c.7077T>A (p.Phe2359Leu) c.4341T>A (p.Phe1447Leu) c.3234T>A (p.Phe1078Leu) n.1830+5571A>T c.7260T>A (p.Phe2420Leu) c.3012T>A (p.Phe1004Leu) c.6240T>A (p.Phe2080Leu) | |
8 | g.99776907T>C | CA462449220 | VPS13B | c.7455T>C (p.Phe2485=) n.7525T>C c.*3137T>C (n.*3137T>C) c.7380T>C (p.Phe2460=) n.378-1775T>C c.7452T>C (p.Phe2484=) c.7377T>C (p.Phe2459=) c.7077T>C (p.Phe2359=) c.4341T>C (p.Phe1447=) c.3234T>C (p.Phe1078=) n.1830+5571A>G c.7260T>C (p.Phe2420=) c.3012T>C (p.Phe1004=) c.6240T>C (p.Phe2080=) | |
8 | g.99776907T>G | CA4824201 | VPS13B | c.7455T>G (p.Phe2485Leu) n.7525T>G c.*3137T>G (n.*3137T>G) c.7380T>G (p.Phe2460Leu) n.378-1775T>G c.7452T>G (p.Phe2484Leu) c.7377T>G (p.Phe2459Leu) c.7077T>G (p.Phe2359Leu) c.4341T>G (p.Phe1447Leu) c.3234T>G (p.Phe1078Leu) n.1830+5571A>C c.7260T>G (p.Phe2420Leu) c.3012T>G (p.Phe1004Leu) c.6240T>G (p.Phe2080Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776908G>A | CA371875814 | VPS13B | c.7456G>A (p.Ala2486Thr) n.7526G>A c.*3138G>A (n.*3138G>A) c.7381G>A (p.Ala2461Thr) n.378-1774G>A c.7453G>A (p.Ala2485Thr) c.7378G>A (p.Ala2460Thr) c.7078G>A (p.Ala2360Thr) c.4342G>A (p.Ala1448Thr) c.3235G>A (p.Ala1079Thr) n.1830+5570C>T c.7261G>A (p.Ala2421Thr) c.3013G>A (p.Ala1005Thr) c.6241G>A (p.Ala2081Thr) | gnomAD v4 |
8 | g.99776908G>C | CA371875815 | VPS13B | c.7456G>C (p.Ala2486Pro) n.7526G>C c.*3138G>C (n.*3138G>C) c.7381G>C (p.Ala2461Pro) n.378-1774G>C c.7453G>C (p.Ala2485Pro) c.7378G>C (p.Ala2460Pro) c.7078G>C (p.Ala2360Pro) c.4342G>C (p.Ala1448Pro) c.3235G>C (p.Ala1079Pro) n.1830+5570C>G c.7261G>C (p.Ala2421Pro) c.3013G>C (p.Ala1005Pro) c.6241G>C (p.Ala2081Pro) | |
8 | g.99776908G>T | CA371875816 | VPS13B | c.7456G>T (p.Ala2486Ser) n.7526G>T c.*3138G>T (n.*3138G>T) c.7381G>T (p.Ala2461Ser) n.378-1774G>T c.7453G>T (p.Ala2485Ser) c.7378G>T (p.Ala2460Ser) c.7078G>T (p.Ala2360Ser) c.4342G>T (p.Ala1448Ser) c.3235G>T (p.Ala1079Ser) n.1830+5570C>A c.7261G>T (p.Ala2421Ser) c.3013G>T (p.Ala1005Ser) c.6241G>T (p.Ala2081Ser) | gnomAD v4 |