Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99853510T>A | CA371780828 | VPS13B | c.10196T>A (p.Phe3399Tyr) n.10266T>A c.*5878T>A (n.*5878T>A) c.10121T>A (p.Phe3374Tyr) c.10193T>A (p.Phe3398Tyr) c.10118T>A (p.Phe3373Tyr) c.9818T>A (p.Phe3273Tyr) c.7082T>A (p.Phe2361Tyr) c.5975T>A (p.Phe1992Tyr) c.10001T>A (p.Phe3334Tyr) c.5753T>A (p.Phe1918Tyr) c.8981T>A (p.Phe2994Tyr) | |
8 | g.99853510T>C | CA371780829 | VPS13B | c.10196T>C (p.Phe3399Ser) n.10266T>C c.*5878T>C (n.*5878T>C) c.10121T>C (p.Phe3374Ser) c.10193T>C (p.Phe3398Ser) c.10118T>C (p.Phe3373Ser) c.9818T>C (p.Phe3273Ser) c.7082T>C (p.Phe2361Ser) c.5975T>C (p.Phe1992Ser) c.10001T>C (p.Phe3334Ser) c.5753T>C (p.Phe1918Ser) c.8981T>C (p.Phe2994Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853510T>G | CA371780830 | VPS13B | c.10196T>G (p.Phe3399Cys) n.10266T>G c.*5878T>G (n.*5878T>G) c.10121T>G (p.Phe3374Cys) c.10193T>G (p.Phe3398Cys) c.10118T>G (p.Phe3373Cys) c.9818T>G (p.Phe3273Cys) c.7082T>G (p.Phe2361Cys) c.5975T>G (p.Phe1992Cys) c.10001T>G (p.Phe3334Cys) c.5753T>G (p.Phe1918Cys) c.8981T>G (p.Phe2994Cys) | |
8 | g.99853511T>A | CA371780831 | VPS13B | c.10197T>A (p.Phe3399Leu) n.10267T>A c.*5879T>A (n.*5879T>A) c.10122T>A (p.Phe3374Leu) c.10194T>A (p.Phe3398Leu) c.10119T>A (p.Phe3373Leu) c.9819T>A (p.Phe3273Leu) c.7083T>A (p.Phe2361Leu) c.5976T>A (p.Phe1992Leu) c.10002T>A (p.Phe3334Leu) c.5754T>A (p.Phe1918Leu) c.8982T>A (p.Phe2994Leu) | |
8 | g.99853511T>C | CA462458055 | VPS13B | c.10197T>C (p.Phe3399=) n.10267T>C c.*5879T>C (n.*5879T>C) c.10122T>C (p.Phe3374=) c.10194T>C (p.Phe3398=) c.10119T>C (p.Phe3373=) c.9819T>C (p.Phe3273=) c.7083T>C (p.Phe2361=) c.5976T>C (p.Phe1992=) c.10002T>C (p.Phe3334=) c.5754T>C (p.Phe1918=) c.8982T>C (p.Phe2994=) | |
8 | g.99853511T>G | CA371780832 | VPS13B | c.10197T>G (p.Phe3399Leu) n.10267T>G c.*5879T>G (n.*5879T>G) c.10122T>G (p.Phe3374Leu) c.10194T>G (p.Phe3398Leu) c.10119T>G (p.Phe3373Leu) c.9819T>G (p.Phe3273Leu) c.7083T>G (p.Phe2361Leu) c.5976T>G (p.Phe1992Leu) c.10002T>G (p.Phe3334Leu) c.5754T>G (p.Phe1918Leu) c.8982T>G (p.Phe2994Leu) | |
8 | g.99853514_99853516del | CA2688071821 | VPS13B | c.10200_10202del (p.Asp3401del) n.10270_10272del c.*5882_*5884del (n.*5882_*5884del) c.10125_10127del (p.Asp3376del) c.10197_10199del (p.Asp3400del) c.10122_10124del (p.Asp3375del) c.9822_9824del (p.Asp3275del) c.7086_7088del (p.Asp2363del) c.5979_5981del (p.Asp1994del) c.10005_10007del (p.Asp3336del) c.5757_5759del (p.Asp1920del) c.8985_8987del (p.Asp2996del) | gnomAD v4 |
8 | g.99853512G>A | CA371780833 | VPS13B | c.10198G>A (p.Asp3400Asn) n.10268G>A c.*5880G>A (n.*5880G>A) c.10123G>A (p.Asp3375Asn) c.10195G>A (p.Asp3399Asn) c.10120G>A (p.Asp3374Asn) c.9820G>A (p.Asp3274Asn) c.7084G>A (p.Asp2362Asn) c.5977G>A (p.Asp1993Asn) c.10003G>A (p.Asp3335Asn) c.5755G>A (p.Asp1919Asn) c.8983G>A (p.Asp2995Asn) | |
8 | g.99853512G>C | CA371780834 | VPS13B | c.10198G>C (p.Asp3400His) n.10268G>C c.*5880G>C (n.*5880G>C) c.10123G>C (p.Asp3375His) c.10195G>C (p.Asp3399His) c.10120G>C (p.Asp3374His) c.9820G>C (p.Asp3274His) c.7084G>C (p.Asp2362His) c.5977G>C (p.Asp1993His) c.10003G>C (p.Asp3335His) c.5755G>C (p.Asp1919His) c.8983G>C (p.Asp2995His) | |
8 | g.99853512G>T | CA4824894 | VPS13B | c.10198G>T (p.Asp3400Tyr) n.10268G>T c.*5880G>T (n.*5880G>T) c.10123G>T (p.Asp3375Tyr) c.10195G>T (p.Asp3399Tyr) c.10120G>T (p.Asp3374Tyr) c.9820G>T (p.Asp3274Tyr) c.7084G>T (p.Asp2362Tyr) c.5977G>T (p.Asp1993Tyr) c.10003G>T (p.Asp3335Tyr) c.5755G>T (p.Asp1919Tyr) c.8983G>T (p.Asp2995Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853513A>C | CA371780837 | VPS13B | c.10199A>C (p.Asp3400Ala) n.10269A>C c.*5881A>C (n.*5881A>C) c.10124A>C (p.Asp3375Ala) c.10196A>C (p.Asp3399Ala) c.10121A>C (p.Asp3374Ala) c.9821A>C (p.Asp3274Ala) c.7085A>C (p.Asp2362Ala) c.5978A>C (p.Asp1993Ala) c.10004A>C (p.Asp3335Ala) c.5756A>C (p.Asp1919Ala) c.8984A>C (p.Asp2995Ala) | |
8 | g.99853513A>G | CA371780836 | VPS13B | c.10199A>G (p.Asp3400Gly) n.10269A>G c.*5881A>G (n.*5881A>G) c.10124A>G (p.Asp3375Gly) c.10196A>G (p.Asp3399Gly) c.10121A>G (p.Asp3374Gly) c.9821A>G (p.Asp3274Gly) c.7085A>G (p.Asp2362Gly) c.5978A>G (p.Asp1993Gly) c.10004A>G (p.Asp3335Gly) c.5756A>G (p.Asp1919Gly) c.8984A>G (p.Asp2995Gly) | |
8 | g.99853513A>T | CA371780835 | VPS13B | c.10199A>T (p.Asp3400Val) n.10269A>T c.*5881A>T (n.*5881A>T) c.10124A>T (p.Asp3375Val) c.10196A>T (p.Asp3399Val) c.10121A>T (p.Asp3374Val) c.9821A>T (p.Asp3274Val) c.7085A>T (p.Asp2362Val) c.5978A>T (p.Asp1993Val) c.10004A>T (p.Asp3335Val) c.5756A>T (p.Asp1919Val) c.8984A>T (p.Asp2995Val) | |
8 | g.99853514T>A | CA371780838 | VPS13B | c.10200T>A (p.Asp3400Glu) n.10270T>A c.*5882T>A (n.*5882T>A) c.10125T>A (p.Asp3375Glu) c.10197T>A (p.Asp3399Glu) c.10122T>A (p.Asp3374Glu) c.9822T>A (p.Asp3274Glu) c.7086T>A (p.Asp2362Glu) c.5979T>A (p.Asp1993Glu) c.10005T>A (p.Asp3335Glu) c.5757T>A (p.Asp1919Glu) c.8985T>A (p.Asp2995Glu) | |
8 | g.99853514T>C | CA4824895 | VPS13B | c.10200T>C (p.Asp3400=) n.10270T>C c.*5882T>C (n.*5882T>C) c.10125T>C (p.Asp3375=) c.10197T>C (p.Asp3399=) c.10122T>C (p.Asp3374=) c.9822T>C (p.Asp3274=) c.7086T>C (p.Asp2362=) c.5979T>C (p.Asp1993=) c.10005T>C (p.Asp3335=) c.5757T>C (p.Asp1919=) c.8985T>C (p.Asp2995=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853514T>G | CA371780839 | VPS13B | c.10200T>G (p.Asp3400Glu) n.10270T>G c.*5882T>G (n.*5882T>G) c.10125T>G (p.Asp3375Glu) c.10197T>G (p.Asp3399Glu) c.10122T>G (p.Asp3374Glu) c.9822T>G (p.Asp3274Glu) c.7086T>G (p.Asp2362Glu) c.5979T>G (p.Asp1993Glu) c.10005T>G (p.Asp3335Glu) c.5757T>G (p.Asp1919Glu) c.8985T>G (p.Asp2995Glu) | |
8 | g.99853515G>A | CA371780840 | VPS13B | c.10201G>A (p.Asp3401Asn) n.10271G>A c.*5883G>A (n.*5883G>A) c.10126G>A (p.Asp3376Asn) c.10198G>A (p.Asp3400Asn) c.10123G>A (p.Asp3375Asn) c.9823G>A (p.Asp3275Asn) c.7087G>A (p.Asp2363Asn) c.5980G>A (p.Asp1994Asn) c.10006G>A (p.Asp3336Asn) c.5758G>A (p.Asp1920Asn) c.8986G>A (p.Asp2996Asn) | gnomAD v4 |
8 | g.99853515G>C | CA371780841 | VPS13B | c.10201G>C (p.Asp3401His) n.10271G>C c.*5883G>C (n.*5883G>C) c.10126G>C (p.Asp3376His) c.10198G>C (p.Asp3400His) c.10123G>C (p.Asp3375His) c.9823G>C (p.Asp3275His) c.7087G>C (p.Asp2363His) c.5980G>C (p.Asp1994His) c.10006G>C (p.Asp3336His) c.5758G>C (p.Asp1920His) c.8986G>C (p.Asp2996His) | |
8 | g.99853515G>T | CA371780842 | VPS13B | c.10201G>T (p.Asp3401Tyr) n.10271G>T c.*5883G>T (n.*5883G>T) c.10126G>T (p.Asp3376Tyr) c.10198G>T (p.Asp3400Tyr) c.10123G>T (p.Asp3375Tyr) c.9823G>T (p.Asp3275Tyr) c.7087G>T (p.Asp2363Tyr) c.5980G>T (p.Asp1994Tyr) c.10006G>T (p.Asp3336Tyr) c.5758G>T (p.Asp1920Tyr) c.8986G>T (p.Asp2996Tyr) | |
8 | g.99853516A>C | CA371780845 | VPS13B | c.10202A>C (p.Asp3401Ala) n.10272A>C c.*5884A>C (n.*5884A>C) c.10127A>C (p.Asp3376Ala) c.10199A>C (p.Asp3400Ala) c.10124A>C (p.Asp3375Ala) c.9824A>C (p.Asp3275Ala) c.7088A>C (p.Asp2363Ala) c.5981A>C (p.Asp1994Ala) c.10007A>C (p.Asp3336Ala) c.5759A>C (p.Asp1920Ala) c.8987A>C (p.Asp2996Ala) | dbSNP |
8 | g.99853516A>G | CA371780843 | VPS13B | c.10202A>G (p.Asp3401Gly) n.10272A>G c.*5884A>G (n.*5884A>G) c.10127A>G (p.Asp3376Gly) c.10199A>G (p.Asp3400Gly) c.10124A>G (p.Asp3375Gly) c.9824A>G (p.Asp3275Gly) c.7088A>G (p.Asp2363Gly) c.5981A>G (p.Asp1994Gly) c.10007A>G (p.Asp3336Gly) c.5759A>G (p.Asp1920Gly) c.8987A>G (p.Asp2996Gly) | |
8 | g.99853516A>T | CA371780844 | VPS13B | c.10202A>T (p.Asp3401Val) n.10272A>T c.*5884A>T (n.*5884A>T) c.10127A>T (p.Asp3376Val) c.10199A>T (p.Asp3400Val) c.10124A>T (p.Asp3375Val) c.9824A>T (p.Asp3275Val) c.7088A>T (p.Asp2363Val) c.5981A>T (p.Asp1994Val) c.10007A>T (p.Asp3336Val) c.5759A>T (p.Asp1920Val) c.8987A>T (p.Asp2996Val) | |
8 | g.99853517C>A | CA371780846 | VPS13B | c.10203C>A (p.Asp3401Glu) n.10273C>A c.*5885C>A (n.*5885C>A) c.10128C>A (p.Asp3376Glu) c.10200C>A (p.Asp3400Glu) c.10125C>A (p.Asp3375Glu) c.9825C>A (p.Asp3275Glu) c.7089C>A (p.Asp2363Glu) c.5982C>A (p.Asp1994Glu) c.10008C>A (p.Asp3336Glu) c.5760C>A (p.Asp1920Glu) c.8988C>A (p.Asp2996Glu) | |
8 | g.99853517C>G | CA371780847 | VPS13B | c.10203C>G (p.Asp3401Glu) n.10273C>G c.*5885C>G (n.*5885C>G) c.10128C>G (p.Asp3376Glu) c.10200C>G (p.Asp3400Glu) c.10125C>G (p.Asp3375Glu) c.9825C>G (p.Asp3275Glu) c.7089C>G (p.Asp2363Glu) c.5982C>G (p.Asp1994Glu) c.10008C>G (p.Asp3336Glu) c.5760C>G (p.Asp1920Glu) c.8988C>G (p.Asp2996Glu) | |
8 | g.99853517C>T | CA462458056 | VPS13B | c.10203C>T (p.Asp3401=) n.10273C>T c.*5885C>T (n.*5885C>T) c.10128C>T (p.Asp3376=) c.10200C>T (p.Asp3400=) c.10125C>T (p.Asp3375=) c.9825C>T (p.Asp3275=) c.7089C>T (p.Asp2363=) c.5982C>T (p.Asp1994=) c.10008C>T (p.Asp3336=) c.5760C>T (p.Asp1920=) c.8988C>T (p.Asp2996=) | ClinVar COSMIC COSMIC |
8 | g.99853518C>A | CA371780848 | VPS13B | c.10204C>A (p.Leu3402Ile) n.10274C>A c.*5886C>A (n.*5886C>A) c.10129C>A (p.Leu3377Ile) c.10201C>A (p.Leu3401Ile) c.10126C>A (p.Leu3376Ile) c.9826C>A (p.Leu3276Ile) c.7090C>A (p.Leu2364Ile) c.5983C>A (p.Leu1995Ile) c.10009C>A (p.Leu3337Ile) c.5761C>A (p.Leu1921Ile) c.8989C>A (p.Leu2997Ile) | |
8 | g.99853518C>G | CA371780849 | VPS13B | c.10204C>G (p.Leu3402Val) n.10274C>G c.*5886C>G (n.*5886C>G) c.10129C>G (p.Leu3377Val) c.10201C>G (p.Leu3401Val) c.10126C>G (p.Leu3376Val) c.9826C>G (p.Leu3276Val) c.7090C>G (p.Leu2364Val) c.5983C>G (p.Leu1995Val) c.10009C>G (p.Leu3337Val) c.5761C>G (p.Leu1921Val) c.8989C>G (p.Leu2997Val) | |
8 | g.99853518C>T | CA4824896 | VPS13B | c.10204C>T (p.Leu3402Phe) n.10274C>T c.*5886C>T (n.*5886C>T) c.10129C>T (p.Leu3377Phe) c.10201C>T (p.Leu3401Phe) c.10126C>T (p.Leu3376Phe) c.9826C>T (p.Leu3276Phe) c.7090C>T (p.Leu2364Phe) c.5983C>T (p.Leu1995Phe) c.10009C>T (p.Leu3337Phe) c.5761C>T (p.Leu1921Phe) c.8989C>T (p.Leu2997Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99853519T>A | CA371780850 | VPS13B | c.10205T>A (p.Leu3402His) n.10275T>A c.*5887T>A (n.*5887T>A) c.10130T>A (p.Leu3377His) c.10202T>A (p.Leu3401His) c.10127T>A (p.Leu3376His) c.9827T>A (p.Leu3276His) c.7091T>A (p.Leu2364His) c.5984T>A (p.Leu1995His) c.10010T>A (p.Leu3337His) c.5762T>A (p.Leu1921His) c.8990T>A (p.Leu2997His) | |
8 | g.99853519T>C | CA371780852 | VPS13B | c.10205T>C (p.Leu3402Pro) n.10275T>C c.*5887T>C (n.*5887T>C) c.10130T>C (p.Leu3377Pro) c.10202T>C (p.Leu3401Pro) c.10127T>C (p.Leu3376Pro) c.9827T>C (p.Leu3276Pro) c.7091T>C (p.Leu2364Pro) c.5984T>C (p.Leu1995Pro) c.10010T>C (p.Leu3337Pro) c.5762T>C (p.Leu1921Pro) c.8990T>C (p.Leu2997Pro) | |
8 | g.99853519T>G | CA371780851 | VPS13B | c.10205T>G (p.Leu3402Arg) n.10275T>G c.*5887T>G (n.*5887T>G) c.10130T>G (p.Leu3377Arg) c.10202T>G (p.Leu3401Arg) c.10127T>G (p.Leu3376Arg) c.9827T>G (p.Leu3276Arg) c.7091T>G (p.Leu2364Arg) c.5984T>G (p.Leu1995Arg) c.10010T>G (p.Leu3337Arg) c.5762T>G (p.Leu1921Arg) c.8990T>G (p.Leu2997Arg) | |
8 | g.99853520C>A | CA462458057 | VPS13B | c.10206C>A (p.Leu3402=) n.10276C>A c.*5888C>A (n.*5888C>A) c.10131C>A (p.Leu3377=) c.10203C>A (p.Leu3401=) c.10128C>A (p.Leu3376=) c.9828C>A (p.Leu3276=) c.7092C>A (p.Leu2364=) c.5985C>A (p.Leu1995=) c.10011C>A (p.Leu3337=) c.5763C>A (p.Leu1921=) c.8991C>A (p.Leu2997=) | |
8 | g.99853520C>G | CA462458058 | VPS13B | c.10206C>G (p.Leu3402=) n.10276C>G c.*5888C>G (n.*5888C>G) c.10131C>G (p.Leu3377=) c.10203C>G (p.Leu3401=) c.10128C>G (p.Leu3376=) c.9828C>G (p.Leu3276=) c.7092C>G (p.Leu2364=) c.5985C>G (p.Leu1995=) c.10011C>G (p.Leu3337=) c.5763C>G (p.Leu1921=) c.8991C>G (p.Leu2997=) | |
8 | g.99853520C>T | CA4824897 | VPS13B | c.10206C>T (p.Leu3402=) n.10276C>T c.*5888C>T (n.*5888C>T) c.10131C>T (p.Leu3377=) c.10203C>T (p.Leu3401=) c.10128C>T (p.Leu3376=) c.9828C>T (p.Leu3276=) c.7092C>T (p.Leu2364=) c.5985C>T (p.Leu1995=) c.10011C>T (p.Leu3337=) c.5763C>T (p.Leu1921=) c.8991C>T (p.Leu2997=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853521A>C | CA371780853 | VPS13B | c.10207A>C (p.Thr3403Pro) n.10277A>C c.*5889A>C (n.*5889A>C) c.10132A>C (p.Thr3378Pro) c.10204A>C (p.Thr3402Pro) c.10129A>C (p.Thr3377Pro) c.9829A>C (p.Thr3277Pro) c.7093A>C (p.Thr2365Pro) c.5986A>C (p.Thr1996Pro) c.10012A>C (p.Thr3338Pro) c.5764A>C (p.Thr1922Pro) c.8992A>C (p.Thr2998Pro) | dbSNP gnomAD v2 |
8 | g.99853521A>G | CA371780854 | VPS13B | c.10207A>G (p.Thr3403Ala) n.10277A>G c.*5889A>G (n.*5889A>G) c.10132A>G (p.Thr3378Ala) c.10204A>G (p.Thr3402Ala) c.10129A>G (p.Thr3377Ala) c.9829A>G (p.Thr3277Ala) c.7093A>G (p.Thr2365Ala) c.5986A>G (p.Thr1996Ala) c.10012A>G (p.Thr3338Ala) c.5764A>G (p.Thr1922Ala) c.8992A>G (p.Thr2998Ala) | ClinVar |
8 | g.99853521A>T | CA4824898 | VPS13B | c.10207A>T (p.Thr3403Ser) n.10277A>T c.*5889A>T (n.*5889A>T) c.10132A>T (p.Thr3378Ser) c.10204A>T (p.Thr3402Ser) c.10129A>T (p.Thr3377Ser) c.9829A>T (p.Thr3277Ser) c.7093A>T (p.Thr2365Ser) c.5986A>T (p.Thr1996Ser) c.10012A>T (p.Thr3338Ser) c.5764A>T (p.Thr1922Ser) c.8992A>T (p.Thr2998Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853522C>A | CA371780855 | VPS13B | c.10208C>A (p.Thr3403Asn) n.10278C>A c.*5890C>A (n.*5890C>A) c.10133C>A (p.Thr3378Asn) c.10205C>A (p.Thr3402Asn) c.10130C>A (p.Thr3377Asn) c.9830C>A (p.Thr3277Asn) c.7094C>A (p.Thr2365Asn) c.5987C>A (p.Thr1996Asn) c.10013C>A (p.Thr3338Asn) c.5765C>A (p.Thr1922Asn) c.8993C>A (p.Thr2998Asn) | |
8 | g.99853522C>G | CA371780856 | VPS13B | c.10208C>G (p.Thr3403Ser) n.10278C>G c.*5890C>G (n.*5890C>G) c.10133C>G (p.Thr3378Ser) c.10205C>G (p.Thr3402Ser) c.10130C>G (p.Thr3377Ser) c.9830C>G (p.Thr3277Ser) c.7094C>G (p.Thr2365Ser) c.5987C>G (p.Thr1996Ser) c.10013C>G (p.Thr3338Ser) c.5765C>G (p.Thr1922Ser) c.8993C>G (p.Thr2998Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853522C>T | CA371780857 | VPS13B | c.10208C>T (p.Thr3403Ile) n.10278C>T c.*5890C>T (n.*5890C>T) c.10133C>T (p.Thr3378Ile) c.10205C>T (p.Thr3402Ile) c.10130C>T (p.Thr3377Ile) c.9830C>T (p.Thr3277Ile) c.7094C>T (p.Thr2365Ile) c.5987C>T (p.Thr1996Ile) c.10013C>T (p.Thr3338Ile) c.5765C>T (p.Thr1922Ile) c.8993C>T (p.Thr2998Ile) | ClinVar gnomAD v4 |
8 | g.99853523C>A | CA462458061 | VPS13B | c.10209C>A (p.Thr3403=) n.10279C>A c.*5891C>A (n.*5891C>A) c.10134C>A (p.Thr3378=) c.10206C>A (p.Thr3402=) c.10131C>A (p.Thr3377=) c.9831C>A (p.Thr3277=) c.7095C>A (p.Thr2365=) c.5988C>A (p.Thr1996=) c.10014C>A (p.Thr3338=) c.5766C>A (p.Thr1922=) c.8994C>A (p.Thr2998=) | |
8 | g.99853523C>G | CA462458059 | VPS13B | c.10209C>G (p.Thr3403=) n.10279C>G c.*5891C>G (n.*5891C>G) c.10134C>G (p.Thr3378=) c.10206C>G (p.Thr3402=) c.10131C>G (p.Thr3377=) c.9831C>G (p.Thr3277=) c.7095C>G (p.Thr2365=) c.5988C>G (p.Thr1996=) c.10014C>G (p.Thr3338=) c.5766C>G (p.Thr1922=) c.8994C>G (p.Thr2998=) | |
8 | g.99853523C>T | CA462458060 | VPS13B | c.10209C>T (p.Thr3403=) n.10279C>T c.*5891C>T (n.*5891C>T) c.10134C>T (p.Thr3378=) c.10206C>T (p.Thr3402=) c.10131C>T (p.Thr3377=) c.9831C>T (p.Thr3277=) c.7095C>T (p.Thr2365=) c.5988C>T (p.Thr1996=) c.10014C>T (p.Thr3338=) c.5766C>T (p.Thr1922=) c.8994C>T (p.Thr2998=) | ClinVar |
8 | g.99853524C>A | CA371780858 | VPS13B | c.10210C>A (p.His3404Asn) n.10280C>A c.*5892C>A (n.*5892C>A) c.10135C>A (p.His3379Asn) c.10207C>A (p.His3403Asn) c.10132C>A (p.His3378Asn) c.9832C>A (p.His3278Asn) c.7096C>A (p.His2366Asn) c.5989C>A (p.His1997Asn) c.10015C>A (p.His3339Asn) c.5767C>A (p.His1923Asn) c.8995C>A (p.His2999Asn) | |
8 | g.99853524C>G | CA182314027 | VPS13B | c.10210C>G (p.His3404Asp) n.10280C>G c.*5892C>G (n.*5892C>G) c.10135C>G (p.His3379Asp) c.10207C>G (p.His3403Asp) c.10132C>G (p.His3378Asp) c.9832C>G (p.His3278Asp) c.7096C>G (p.His2366Asp) c.5989C>G (p.His1997Asp) c.10015C>G (p.His3339Asp) c.5767C>G (p.His1923Asp) c.8995C>G (p.His2999Asp) | dbSNP |
8 | g.99853524C>T | CA4824899 | VPS13B | c.10210C>T (p.His3404Tyr) n.10280C>T c.*5892C>T (n.*5892C>T) c.10135C>T (p.His3379Tyr) c.10207C>T (p.His3403Tyr) c.10132C>T (p.His3378Tyr) c.9832C>T (p.His3278Tyr) c.7096C>T (p.His2366Tyr) c.5989C>T (p.His1997Tyr) c.10015C>T (p.His3339Tyr) c.5767C>T (p.His1923Tyr) c.8995C>T (p.His2999Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853525A>C | CA371780861 | VPS13B | c.10211A>C (p.His3404Pro) n.10281A>C c.*5893A>C (n.*5893A>C) c.10136A>C (p.His3379Pro) c.10208A>C (p.His3403Pro) c.10133A>C (p.His3378Pro) c.9833A>C (p.His3278Pro) c.7097A>C (p.His2366Pro) c.5990A>C (p.His1997Pro) c.10016A>C (p.His3339Pro) c.5768A>C (p.His1923Pro) c.8996A>C (p.His2999Pro) | |
8 | g.99853525A>G | CA371780860 | VPS13B | c.10211A>G (p.His3404Arg) n.10281A>G c.*5893A>G (n.*5893A>G) c.10136A>G (p.His3379Arg) c.10208A>G (p.His3403Arg) c.10133A>G (p.His3378Arg) c.9833A>G (p.His3278Arg) c.7097A>G (p.His2366Arg) c.5990A>G (p.His1997Arg) c.10016A>G (p.His3339Arg) c.5768A>G (p.His1923Arg) c.8996A>G (p.His2999Arg) | |
8 | g.99853525A>T | CA371780859 | VPS13B | c.10211A>T (p.His3404Leu) n.10281A>T c.*5893A>T (n.*5893A>T) c.10136A>T (p.His3379Leu) c.10208A>T (p.His3403Leu) c.10133A>T (p.His3378Leu) c.9833A>T (p.His3278Leu) c.7097A>T (p.His2366Leu) c.5990A>T (p.His1997Leu) c.10016A>T (p.His3339Leu) c.5768A>T (p.His1923Leu) c.8996A>T (p.His2999Leu) | |
8 | g.99853526C>A | CA371780862 | VPS13B | c.10212C>A (p.His3404Gln) n.10282C>A c.*5894C>A (n.*5894C>A) c.10137C>A (p.His3379Gln) c.10209C>A (p.His3403Gln) c.10134C>A (p.His3378Gln) c.9834C>A (p.His3278Gln) c.7098C>A (p.His2366Gln) c.5991C>A (p.His1997Gln) c.10017C>A (p.His3339Gln) c.5769C>A (p.His1923Gln) c.8997C>A (p.His2999Gln) | |
8 | g.99853526C>G | CA371780863 | VPS13B | c.10212C>G (p.His3404Gln) n.10282C>G c.*5894C>G (n.*5894C>G) c.10137C>G (p.His3379Gln) c.10209C>G (p.His3403Gln) c.10134C>G (p.His3378Gln) c.9834C>G (p.His3278Gln) c.7098C>G (p.His2366Gln) c.5991C>G (p.His1997Gln) c.10017C>G (p.His3339Gln) c.5769C>G (p.His1923Gln) c.8997C>G (p.His2999Gln) | |
8 | g.99853526C>T | CA462458062 | VPS13B | c.10212C>T (p.His3404=) n.10282C>T c.*5894C>T (n.*5894C>T) c.10137C>T (p.His3379=) c.10209C>T (p.His3403=) c.10134C>T (p.His3378=) c.9834C>T (p.His3278=) c.7098C>T (p.His2366=) c.5991C>T (p.His1997=) c.10017C>T (p.His3339=) c.5769C>T (p.His1923=) c.8997C>T (p.His2999=) | ClinVar dbSNP |
8 | g.99853527C>A | CA371780864 | VPS13B | c.10213C>A (p.His3405Asn) n.10283C>A c.*5895C>A (n.*5895C>A) c.10138C>A (p.His3380Asn) c.10210C>A (p.His3404Asn) c.10135C>A (p.His3379Asn) c.9835C>A (p.His3279Asn) c.7099C>A (p.His2367Asn) c.5992C>A (p.His1998Asn) c.10018C>A (p.His3340Asn) c.5770C>A (p.His1924Asn) c.8998C>A (p.His3000Asn) | ClinVar |
8 | g.99853527C>G | CA371780866 | VPS13B | c.10213C>G (p.His3405Asp) n.10283C>G c.*5895C>G (n.*5895C>G) c.10138C>G (p.His3380Asp) c.10210C>G (p.His3404Asp) c.10135C>G (p.His3379Asp) c.9835C>G (p.His3279Asp) c.7099C>G (p.His2367Asp) c.5992C>G (p.His1998Asp) c.10018C>G (p.His3340Asp) c.5770C>G (p.His1924Asp) c.8998C>G (p.His3000Asp) | |
8 | g.99853527C>T | CA371780865 | VPS13B | c.10213C>T (p.His3405Tyr) n.10283C>T c.*5895C>T (n.*5895C>T) c.10138C>T (p.His3380Tyr) c.10210C>T (p.His3404Tyr) c.10135C>T (p.His3379Tyr) c.9835C>T (p.His3279Tyr) c.7099C>T (p.His2367Tyr) c.5992C>T (p.His1998Tyr) c.10018C>T (p.His3340Tyr) c.5770C>T (p.His1924Tyr) c.8998C>T (p.His3000Tyr) | |
8 | g.99853527_99853528insCAAACACACCCAAC | CA2781481186 | VPS13B | c.10213_10214insCAAACACACCCAAC (p.His3405ProfsTer13) n.10283_10284insCAAACACACCCAAC c.*5895_*5896insCAAACACACCCAAC (n.*5895_*5896insCAAACACACCCAAC) c.10138_10139insCAAACACACCCAAC (p.His3380ProfsTer13) c.10210_10211insCAAACACACCCAAC (p.His3404ProfsTer13) c.10135_10136insCAAACACACCCAAC (p.His3379ProfsTer13) c.9835_9836insCAAACACACCCAAC (p.His3279ProfsTer13) c.7099_7100insCAAACACACCCAAC (p.His2367ProfsTer13) c.5992_5993insCAAACACACCCAAC (p.His1998ProfsTer13) c.10018_10019insCAAACACACCCAAC (p.His3340ProfsTer13) c.5770_5771insCAAACACACCCAAC (p.His1924ProfsTer13) c.8998_8999insCAAACACACCCAAC (p.His3000ProfsTer13) | |
8 | g.99853528A>C | CA371780867 | VPS13B | c.10214A>C (p.His3405Pro) n.10284A>C c.*5896A>C (n.*5896A>C) c.10139A>C (p.His3380Pro) c.10211A>C (p.His3404Pro) c.10136A>C (p.His3379Pro) c.9836A>C (p.His3279Pro) c.7100A>C (p.His2367Pro) c.5993A>C (p.His1998Pro) c.10019A>C (p.His3340Pro) c.5771A>C (p.His1924Pro) c.8999A>C (p.His3000Pro) | |
8 | g.99853528A>G | CA182314028 | VPS13B | c.10214A>G (p.His3405Arg) n.10284A>G c.*5896A>G (n.*5896A>G) c.10139A>G (p.His3380Arg) c.10211A>G (p.His3404Arg) c.10136A>G (p.His3379Arg) c.9836A>G (p.His3279Arg) c.7100A>G (p.His2367Arg) c.5993A>G (p.His1998Arg) c.10019A>G (p.His3340Arg) c.5771A>G (p.His1924Arg) c.8999A>G (p.His3000Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.99853528A>T | CA371780868 | VPS13B | c.10214A>T (p.His3405Leu) n.10284A>T c.*5896A>T (n.*5896A>T) c.10139A>T (p.His3380Leu) c.10211A>T (p.His3404Leu) c.10136A>T (p.His3379Leu) c.9836A>T (p.His3279Leu) c.7100A>T (p.His2367Leu) c.5993A>T (p.His1998Leu) c.10019A>T (p.His3340Leu) c.5771A>T (p.His1924Leu) c.8999A>T (p.His3000Leu) | |
8 | g.99853528_99853529insAACACACC | CA2781481192 | VPS13B | c.10214_10215insAACACACC (p.His3405GlnfsTer11) n.10284_10285insAACACACC c.*5896_*5897insAACACACC (n.*5896_*5897insAACACACC) c.10139_10140insAACACACC (p.His3380GlnfsTer11) c.10211_10212insAACACACC (p.His3404GlnfsTer11) c.10136_10137insAACACACC (p.His3379GlnfsTer11) c.9836_9837insAACACACC (p.His3279GlnfsTer11) c.7100_7101insAACACACC (p.His2367GlnfsTer11) c.5993_5994insAACACACC (p.His1998GlnfsTer11) c.10019_10020insAACACACC (p.His3340GlnfsTer11) c.5771_5772insAACACACC (p.His1924GlnfsTer11) c.8999_9000insAACACACC (p.His3000GlnfsTer11) | |
8 | g.99853529C>A | CA371780869 | VPS13B | c.10215C>A (p.His3405Gln) n.10285C>A c.*5897C>A (n.*5897C>A) c.10140C>A (p.His3380Gln) c.10212C>A (p.His3404Gln) c.10137C>A (p.His3379Gln) c.9837C>A (p.His3279Gln) c.7101C>A (p.His2367Gln) c.5994C>A (p.His1998Gln) c.10020C>A (p.His3340Gln) c.5772C>A (p.His1924Gln) c.9000C>A (p.His3000Gln) | gnomAD v4 |
8 | g.99853529C>G | CA371780870 | VPS13B | c.10215C>G (p.His3405Gln) n.10285C>G c.*5897C>G (n.*5897C>G) c.10140C>G (p.His3380Gln) c.10212C>G (p.His3404Gln) c.10137C>G (p.His3379Gln) c.9837C>G (p.His3279Gln) c.7101C>G (p.His2367Gln) c.5994C>G (p.His1998Gln) c.10020C>G (p.His3340Gln) c.5772C>G (p.His1924Gln) c.9000C>G (p.His3000Gln) | ClinVar dbSNP gnomAD v4 |
8 | g.99853529C>T | CA462458063 | VPS13B | c.10215C>T (p.His3405=) n.10285C>T c.*5897C>T (n.*5897C>T) c.10140C>T (p.His3380=) c.10212C>T (p.His3404=) c.10137C>T (p.His3379=) c.9837C>T (p.His3279=) c.7101C>T (p.His2367=) c.5994C>T (p.His1998=) c.10020C>T (p.His3340=) c.5772C>T (p.His1924=) c.9000C>T (p.His3000=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853530A>C | CA371780871 | VPS13B | c.10216A>C (p.Lys3406Gln) n.10286A>C c.*5898A>C (n.*5898A>C) c.10141A>C (p.Lys3381Gln) c.10213A>C (p.Lys3405Gln) c.10138A>C (p.Lys3380Gln) c.9838A>C (p.Lys3280Gln) c.7102A>C (p.Lys2368Gln) c.5995A>C (p.Lys1999Gln) c.10021A>C (p.Lys3341Gln) c.5773A>C (p.Lys1925Gln) c.9001A>C (p.Lys3001Gln) | |
8 | g.99853530A>G | CA371780872 | VPS13B | c.10216A>G (p.Lys3406Glu) n.10286A>G c.*5898A>G (n.*5898A>G) c.10141A>G (p.Lys3381Glu) c.10213A>G (p.Lys3405Glu) c.10138A>G (p.Lys3380Glu) c.9838A>G (p.Lys3280Glu) c.7102A>G (p.Lys2368Glu) c.5995A>G (p.Lys1999Glu) c.10021A>G (p.Lys3341Glu) c.5773A>G (p.Lys1925Glu) c.9001A>G (p.Lys3001Glu) | |
8 | g.99853530A>T | CA371780873 | VPS13B | c.10216A>T (p.Lys3406Ter) n.10286A>T c.*5898A>T (n.*5898A>T) c.10141A>T (p.Lys3381Ter) c.10213A>T (p.Lys3405Ter) c.10138A>T (p.Lys3380Ter) c.9838A>T (p.Lys3280Ter) c.7102A>T (p.Lys2368Ter) c.5995A>T (p.Lys1999Ter) c.10021A>T (p.Lys3341Ter) c.5773A>T (p.Lys1925Ter) c.9001A>T (p.Lys3001Ter) | |
8 | g.99853531A>C | CA182314033 | VPS13B | c.10217A>C (p.Lys3406Thr) n.10287A>C c.*5899A>C (n.*5899A>C) c.10142A>C (p.Lys3381Thr) c.10214A>C (p.Lys3405Thr) c.10139A>C (p.Lys3380Thr) c.9839A>C (p.Lys3280Thr) c.7103A>C (p.Lys2368Thr) c.5996A>C (p.Lys1999Thr) c.10022A>C (p.Lys3341Thr) c.5774A>C (p.Lys1925Thr) c.9002A>C (p.Lys3001Thr) | dbSNP |
8 | g.99853531A>G | CA371780875 | VPS13B | c.10217A>G (p.Lys3406Arg) n.10287A>G c.*5899A>G (n.*5899A>G) c.10142A>G (p.Lys3381Arg) c.10214A>G (p.Lys3405Arg) c.10139A>G (p.Lys3380Arg) c.9839A>G (p.Lys3280Arg) c.7103A>G (p.Lys2368Arg) c.5996A>G (p.Lys1999Arg) c.10022A>G (p.Lys3341Arg) c.5774A>G (p.Lys1925Arg) c.9002A>G (p.Lys3001Arg) | |
8 | g.99853531A>T | CA371780874 | VPS13B | c.10217A>T (p.Lys3406Ile) n.10287A>T c.*5899A>T (n.*5899A>T) c.10142A>T (p.Lys3381Ile) c.10214A>T (p.Lys3405Ile) c.10139A>T (p.Lys3380Ile) c.9839A>T (p.Lys3280Ile) c.7103A>T (p.Lys2368Ile) c.5996A>T (p.Lys1999Ile) c.10022A>T (p.Lys3341Ile) c.5774A>T (p.Lys1925Ile) c.9002A>T (p.Lys3001Ile) | |
8 | g.99853532A>C | CA371780876 | VPS13B | c.10218A>C (p.Lys3406Asn) n.10288A>C c.*5900A>C (n.*5900A>C) c.10143A>C (p.Lys3381Asn) c.10215A>C (p.Lys3405Asn) c.10140A>C (p.Lys3380Asn) c.9840A>C (p.Lys3280Asn) c.7104A>C (p.Lys2368Asn) c.5997A>C (p.Lys1999Asn) c.10023A>C (p.Lys3341Asn) c.5775A>C (p.Lys1925Asn) c.9003A>C (p.Lys3001Asn) | |
8 | g.99853532A>G | CA462458064 | VPS13B | c.10218A>G (p.Lys3406=) n.10288A>G c.*5900A>G (n.*5900A>G) c.10143A>G (p.Lys3381=) c.10215A>G (p.Lys3405=) c.10140A>G (p.Lys3380=) c.9840A>G (p.Lys3280=) c.7104A>G (p.Lys2368=) c.5997A>G (p.Lys1999=) c.10023A>G (p.Lys3341=) c.5775A>G (p.Lys1925=) c.9003A>G (p.Lys3001=) | |
8 | g.99853532A>T | CA371780877 | VPS13B | c.10218A>T (p.Lys3406Asn) n.10288A>T c.*5900A>T (n.*5900A>T) c.10143A>T (p.Lys3381Asn) c.10215A>T (p.Lys3405Asn) c.10140A>T (p.Lys3380Asn) c.9840A>T (p.Lys3280Asn) c.7104A>T (p.Lys2368Asn) c.5997A>T (p.Lys1999Asn) c.10023A>T (p.Lys3341Asn) c.5775A>T (p.Lys1925Asn) c.9003A>T (p.Lys3001Asn) | |
8 | g.99853533del | CA2497231563 | VPS13B | c.10219del (p.Ala3407HisfsTer6) n.10289del c.*5901del (n.*5901del) c.10144del (p.Ala3382HisfsTer6) c.10216del (p.Ala3406HisfsTer6) c.10141del (p.Ala3381HisfsTer6) c.9841del (p.Ala3281HisfsTer6) c.7105del (p.Ala2369HisfsTer6) c.5998del (p.Ala2000HisfsTer6) c.10024del (p.Ala3342HisfsTer6) c.5776del (p.Ala1926HisfsTer6) c.9004del (p.Ala3002HisfsTer6) | dbSNP |
8 | g.99853533G>A | CA371780878 | VPS13B | c.10219G>A (p.Ala3407Thr) n.10289G>A c.*5901G>A (n.*5901G>A) c.10144G>A (p.Ala3382Thr) c.10216G>A (p.Ala3406Thr) c.10141G>A (p.Ala3381Thr) c.9841G>A (p.Ala3281Thr) c.7105G>A (p.Ala2369Thr) c.5998G>A (p.Ala2000Thr) c.10024G>A (p.Ala3342Thr) c.5776G>A (p.Ala1926Thr) c.9004G>A (p.Ala3002Thr) | gnomAD v4 |
8 | g.99853533G>C | CA371780879 | VPS13B | c.10219G>C (p.Ala3407Pro) n.10289G>C c.*5901G>C (n.*5901G>C) c.10144G>C (p.Ala3382Pro) c.10216G>C (p.Ala3406Pro) c.10141G>C (p.Ala3381Pro) c.9841G>C (p.Ala3281Pro) c.7105G>C (p.Ala2369Pro) c.5998G>C (p.Ala2000Pro) c.10024G>C (p.Ala3342Pro) c.5776G>C (p.Ala1926Pro) c.9004G>C (p.Ala3002Pro) | |
8 | g.99853533G>T | CA371780880 | VPS13B | c.10219G>T (p.Ala3407Ser) n.10289G>T c.*5901G>T (n.*5901G>T) c.10144G>T (p.Ala3382Ser) c.10216G>T (p.Ala3406Ser) c.10141G>T (p.Ala3381Ser) c.9841G>T (p.Ala3281Ser) c.7105G>T (p.Ala2369Ser) c.5998G>T (p.Ala2000Ser) c.10024G>T (p.Ala3342Ser) c.5776G>T (p.Ala1926Ser) c.9004G>T (p.Ala3002Ser) | |
8 | g.99853534C>A | CA371780881 | VPS13B | c.10220C>A (p.Ala3407Glu) n.10290C>A c.*5902C>A (n.*5902C>A) c.10145C>A (p.Ala3382Glu) c.10217C>A (p.Ala3406Glu) c.10142C>A (p.Ala3381Glu) c.9842C>A (p.Ala3281Glu) c.7106C>A (p.Ala2369Glu) c.5999C>A (p.Ala2000Glu) c.10025C>A (p.Ala3342Glu) c.5777C>A (p.Ala1926Glu) c.9005C>A (p.Ala3002Glu) | |
8 | g.99853534C>G | CA371780882 | VPS13B | c.10220C>G (p.Ala3407Gly) n.10290C>G c.*5902C>G (n.*5902C>G) c.10145C>G (p.Ala3382Gly) c.10217C>G (p.Ala3406Gly) c.10142C>G (p.Ala3381Gly) c.9842C>G (p.Ala3281Gly) c.7106C>G (p.Ala2369Gly) c.5999C>G (p.Ala2000Gly) c.10025C>G (p.Ala3342Gly) c.5777C>G (p.Ala1926Gly) c.9005C>G (p.Ala3002Gly) | |
8 | g.99853534C>T | CA4824900 | VPS13B | c.10220C>T (p.Ala3407Val) n.10290C>T c.*5902C>T (n.*5902C>T) c.10145C>T (p.Ala3382Val) c.10217C>T (p.Ala3406Val) c.10142C>T (p.Ala3381Val) c.9842C>T (p.Ala3281Val) c.7106C>T (p.Ala2369Val) c.5999C>T (p.Ala2000Val) c.10025C>T (p.Ala3342Val) c.5777C>T (p.Ala1926Val) c.9005C>T (p.Ala3002Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853536_99853538del | CA2688071857 | VPS13B | c.10222_10224del (p.Ser3408del) n.10292_10294del c.*5904_*5906del (n.*5904_*5906del) c.10147_10149del (p.Ser3383del) c.10219_10221del (p.Ser3407del) c.10144_10146del (p.Ser3382del) c.9844_9846del (p.Ser3282del) c.7108_7110del (p.Ser2370del) c.6001_6003del (p.Ser2001del) c.10027_10029del (p.Ser3343del) c.5779_5781del (p.Ser1927del) c.9007_9009del (p.Ser3003del) | gnomAD v4 |
8 | g.99853535A>C | CA462458065 | VPS13B | c.10221A>C (p.Ala3407=) n.10291A>C c.*5903A>C (n.*5903A>C) c.10146A>C (p.Ala3382=) c.10218A>C (p.Ala3406=) c.10143A>C (p.Ala3381=) c.9843A>C (p.Ala3281=) c.7107A>C (p.Ala2369=) c.6000A>C (p.Ala2000=) c.10026A>C (p.Ala3342=) c.5778A>C (p.Ala1926=) c.9006A>C (p.Ala3002=) | |
8 | g.99853535A>G | CA462458066 | VPS13B | c.10221A>G (p.Ala3407=) n.10291A>G c.*5903A>G (n.*5903A>G) c.10146A>G (p.Ala3382=) c.10218A>G (p.Ala3406=) c.10143A>G (p.Ala3381=) c.9843A>G (p.Ala3281=) c.7107A>G (p.Ala2369=) c.6000A>G (p.Ala2000=) c.10026A>G (p.Ala3342=) c.5778A>G (p.Ala1926=) c.9006A>G (p.Ala3002=) | |
8 | g.99853535A>T | CA462458067 | VPS13B | c.10221A>T (p.Ala3407=) n.10291A>T c.*5903A>T (n.*5903A>T) c.10146A>T (p.Ala3382=) c.10218A>T (p.Ala3406=) c.10143A>T (p.Ala3381=) c.9843A>T (p.Ala3281=) c.7107A>T (p.Ala2369=) c.6000A>T (p.Ala2000=) c.10026A>T (p.Ala3342=) c.5778A>T (p.Ala1926=) c.9006A>T (p.Ala3002=) | |
8 | g.99853536T>A | CA371780883 | VPS13B | c.10222T>A (p.Ser3408Thr) n.10292T>A c.*5904T>A (n.*5904T>A) c.10147T>A (p.Ser3383Thr) c.10219T>A (p.Ser3407Thr) c.10144T>A (p.Ser3382Thr) c.9844T>A (p.Ser3282Thr) c.7108T>A (p.Ser2370Thr) c.6001T>A (p.Ser2001Thr) c.10027T>A (p.Ser3343Thr) c.5779T>A (p.Ser1927Thr) c.9007T>A (p.Ser3003Thr) | |
8 | g.99853536T>C | CA4824901 | VPS13B | c.10222T>C (p.Ser3408Pro) n.10292T>C c.*5904T>C (n.*5904T>C) c.10147T>C (p.Ser3383Pro) c.10219T>C (p.Ser3407Pro) c.10144T>C (p.Ser3382Pro) c.9844T>C (p.Ser3282Pro) c.7108T>C (p.Ser2370Pro) c.6001T>C (p.Ser2001Pro) c.10027T>C (p.Ser3343Pro) c.5779T>C (p.Ser1927Pro) c.9007T>C (p.Ser3003Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853536T>G | CA371780884 | VPS13B | c.10222T>G (p.Ser3408Ala) n.10292T>G c.*5904T>G (n.*5904T>G) c.10147T>G (p.Ser3383Ala) c.10219T>G (p.Ser3407Ala) c.10144T>G (p.Ser3382Ala) c.9844T>G (p.Ser3282Ala) c.7108T>G (p.Ser2370Ala) c.6001T>G (p.Ser2001Ala) c.10027T>G (p.Ser3343Ala) c.5779T>G (p.Ser1927Ala) c.9007T>G (p.Ser3003Ala) | |
8 | g.99853537C>A | CA371780885 | VPS13B | c.10223C>A (p.Ser3408Ter) n.10293C>A c.*5905C>A (n.*5905C>A) c.10148C>A (p.Ser3383Ter) c.10220C>A (p.Ser3407Ter) c.10145C>A (p.Ser3382Ter) c.9845C>A (p.Ser3282Ter) c.7109C>A (p.Ser2370Ter) c.6002C>A (p.Ser2001Ter) c.10028C>A (p.Ser3343Ter) c.5780C>A (p.Ser1927Ter) c.9008C>A (p.Ser3003Ter) | |
8 | g.99853537C>G | CA182314039 | VPS13B | c.10223C>G (p.Ser3408Ter) n.10293C>G c.*5905C>G (n.*5905C>G) c.10148C>G (p.Ser3383Ter) c.10220C>G (p.Ser3407Ter) c.10145C>G (p.Ser3382Ter) c.9845C>G (p.Ser3282Ter) c.7109C>G (p.Ser2370Ter) c.6002C>G (p.Ser2001Ter) c.10028C>G (p.Ser3343Ter) c.5780C>G (p.Ser1927Ter) c.9008C>G (p.Ser3003Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.99853537C>T | CA371780886 | VPS13B | c.10223C>T (p.Ser3408Leu) n.10293C>T c.*5905C>T (n.*5905C>T) c.10148C>T (p.Ser3383Leu) c.10220C>T (p.Ser3407Leu) c.10145C>T (p.Ser3382Leu) c.9845C>T (p.Ser3282Leu) c.7109C>T (p.Ser2370Leu) c.6002C>T (p.Ser2001Leu) c.10028C>T (p.Ser3343Leu) c.5780C>T (p.Ser1927Leu) c.9008C>T (p.Ser3003Leu) | |
8 | g.99853538A>C | CA462458068 | VPS13B | c.10224A>C (p.Ser3408=) n.10294A>C c.*5906A>C (n.*5906A>C) c.10149A>C (p.Ser3383=) c.10221A>C (p.Ser3407=) c.10146A>C (p.Ser3382=) c.9846A>C (p.Ser3282=) c.7110A>C (p.Ser2370=) c.6003A>C (p.Ser2001=) c.10029A>C (p.Ser3343=) c.5781A>C (p.Ser1927=) c.9009A>C (p.Ser3003=) | |
8 | g.99853538A>G | CA462458069 | VPS13B | c.10224A>G (p.Ser3408=) n.10294A>G c.*5906A>G (n.*5906A>G) c.10149A>G (p.Ser3383=) c.10221A>G (p.Ser3407=) c.10146A>G (p.Ser3382=) c.9846A>G (p.Ser3282=) c.7110A>G (p.Ser2370=) c.6003A>G (p.Ser2001=) c.10029A>G (p.Ser3343=) c.5781A>G (p.Ser1927=) c.9009A>G (p.Ser3003=) | |
8 | g.99853538A>T | CA462458070 | VPS13B | c.10224A>T (p.Ser3408=) n.10294A>T c.*5906A>T (n.*5906A>T) c.10149A>T (p.Ser3383=) c.10221A>T (p.Ser3407=) c.10146A>T (p.Ser3382=) c.9846A>T (p.Ser3282=) c.7110A>T (p.Ser2370=) c.6003A>T (p.Ser2001=) c.10029A>T (p.Ser3343=) c.5781A>T (p.Ser1927=) c.9009A>T (p.Ser3003=) | ClinVar dbSNP gnomAD v4 |
8 | g.99853539G>A | CA371780888 | VPS13B | c.10225G>A (p.Ala3409Thr) n.10295G>A c.*5907G>A (n.*5907G>A) c.10150G>A (p.Ala3384Thr) c.10222G>A (p.Ala3408Thr) c.10147G>A (p.Ala3383Thr) c.9847G>A (p.Ala3283Thr) c.7111G>A (p.Ala2371Thr) c.6004G>A (p.Ala2002Thr) c.10030G>A (p.Ala3344Thr) c.5782G>A (p.Ala1928Thr) c.9010G>A (p.Ala3004Thr) | |
8 | g.99853539G>C | CA371780889 | VPS13B | c.10225G>C (p.Ala3409Pro) n.10295G>C c.*5907G>C (n.*5907G>C) c.10150G>C (p.Ala3384Pro) c.10222G>C (p.Ala3408Pro) c.10147G>C (p.Ala3383Pro) c.9847G>C (p.Ala3283Pro) c.7111G>C (p.Ala2371Pro) c.6004G>C (p.Ala2002Pro) c.10030G>C (p.Ala3344Pro) c.5782G>C (p.Ala1928Pro) c.9010G>C (p.Ala3004Pro) | |
8 | g.99853539G>T | CA371780890 | VPS13B | c.10225G>T (p.Ala3409Ser) n.10295G>T c.*5907G>T (n.*5907G>T) c.10150G>T (p.Ala3384Ser) c.10222G>T (p.Ala3408Ser) c.10147G>T (p.Ala3383Ser) c.9847G>T (p.Ala3283Ser) c.7111G>T (p.Ala2371Ser) c.6004G>T (p.Ala2002Ser) c.10030G>T (p.Ala3344Ser) c.5782G>T (p.Ala1928Ser) c.9010G>T (p.Ala3004Ser) | dbSNP gnomAD v4 |
8 | g.99853540C>A | CA371780891 | VPS13B | c.10226C>A (p.Ala3409Asp) n.10296C>A c.*5908C>A (n.*5908C>A) c.10151C>A (p.Ala3384Asp) c.10223C>A (p.Ala3408Asp) c.10148C>A (p.Ala3383Asp) c.9848C>A (p.Ala3283Asp) c.7112C>A (p.Ala2371Asp) c.6005C>A (p.Ala2002Asp) c.10031C>A (p.Ala3344Asp) c.5783C>A (p.Ala1928Asp) c.9011C>A (p.Ala3004Asp) | |
8 | g.99853540C>G | CA371780892 | VPS13B | c.10226C>G (p.Ala3409Gly) n.10296C>G c.*5908C>G (n.*5908C>G) c.10151C>G (p.Ala3384Gly) c.10223C>G (p.Ala3408Gly) c.10148C>G (p.Ala3383Gly) c.9848C>G (p.Ala3283Gly) c.7112C>G (p.Ala2371Gly) c.6005C>G (p.Ala2002Gly) c.10031C>G (p.Ala3344Gly) c.5783C>G (p.Ala1928Gly) c.9011C>G (p.Ala3004Gly) | |
8 | g.99853540C>T | CA371780893 | VPS13B | c.10226C>T (p.Ala3409Val) n.10296C>T c.*5908C>T (n.*5908C>T) c.10151C>T (p.Ala3384Val) c.10223C>T (p.Ala3408Val) c.10148C>T (p.Ala3383Val) c.9848C>T (p.Ala3283Val) c.7112C>T (p.Ala2371Val) c.6005C>T (p.Ala2002Val) c.10031C>T (p.Ala3344Val) c.5783C>T (p.Ala1928Val) c.9011C>T (p.Ala3004Val) | |
8 | g.99853541T>A | CA462458071 | VPS13B | c.10227T>A (p.Ala3409=) n.10297T>A c.*5909T>A (n.*5909T>A) c.10152T>A (p.Ala3384=) c.10224T>A (p.Ala3408=) c.10149T>A (p.Ala3383=) c.9849T>A (p.Ala3283=) c.7113T>A (p.Ala2371=) c.6006T>A (p.Ala2002=) c.10032T>A (p.Ala3344=) c.5784T>A (p.Ala1928=) c.9012T>A (p.Ala3004=) | |
8 | g.99853541T>C | CA462458072 | VPS13B | c.10227T>C (p.Ala3409=) n.10297T>C c.*5909T>C (n.*5909T>C) c.10152T>C (p.Ala3384=) c.10224T>C (p.Ala3408=) c.10149T>C (p.Ala3383=) c.9849T>C (p.Ala3283=) c.7113T>C (p.Ala2371=) c.6006T>C (p.Ala2002=) c.10032T>C (p.Ala3344=) c.5784T>C (p.Ala1928=) c.9012T>C (p.Ala3004=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853541T>G | CA4824902 | VPS13B | c.10227T>G (p.Ala3409=) n.10297T>G c.*5909T>G (n.*5909T>G) c.10152T>G (p.Ala3384=) c.10224T>G (p.Ala3408=) c.10149T>G (p.Ala3383=) c.9849T>G (p.Ala3283=) c.7113T>G (p.Ala2371=) c.6006T>G (p.Ala2002=) c.10032T>G (p.Ala3344=) c.5784T>G (p.Ala1928=) c.9012T>G (p.Ala3004=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853542G>A | CA371780894 | VPS13B | c.10228G>A (p.Glu3410Lys) n.10298G>A c.*5910G>A (n.*5910G>A) c.10153G>A (p.Glu3385Lys) c.10225G>A (p.Glu3409Lys) c.10150G>A (p.Glu3384Lys) c.9850G>A (p.Glu3284Lys) c.7114G>A (p.Glu2372Lys) c.6007G>A (p.Glu2003Lys) c.10033G>A (p.Glu3345Lys) c.5785G>A (p.Glu1929Lys) c.9013G>A (p.Glu3005Lys) | |
8 | g.99853542G>C | CA371780896 | VPS13B | c.10228G>C (p.Glu3410Gln) n.10298G>C c.*5910G>C (n.*5910G>C) c.10153G>C (p.Glu3385Gln) c.10225G>C (p.Glu3409Gln) c.10150G>C (p.Glu3384Gln) c.9850G>C (p.Glu3284Gln) c.7114G>C (p.Glu2372Gln) c.6007G>C (p.Glu2003Gln) c.10033G>C (p.Glu3345Gln) c.5785G>C (p.Glu1929Gln) c.9013G>C (p.Glu3005Gln) | |
8 | g.99853542G>T | CA371780895 | VPS13B | c.10228G>T (p.Glu3410Ter) n.10298G>T c.*5910G>T (n.*5910G>T) c.10153G>T (p.Glu3385Ter) c.10225G>T (p.Glu3409Ter) c.10150G>T (p.Glu3384Ter) c.9850G>T (p.Glu3284Ter) c.7114G>T (p.Glu2372Ter) c.6007G>T (p.Glu2003Ter) c.10033G>T (p.Glu3345Ter) c.5785G>T (p.Glu1929Ter) c.9013G>T (p.Glu3005Ter) | |
8 | g.99853543A>C | CA371780897 | VPS13B | c.10229A>C (p.Glu3410Ala) n.10299A>C c.*5911A>C (n.*5911A>C) c.10154A>C (p.Glu3385Ala) c.10226A>C (p.Glu3409Ala) c.10151A>C (p.Glu3384Ala) c.9851A>C (p.Glu3284Ala) c.7115A>C (p.Glu2372Ala) c.6008A>C (p.Glu2003Ala) c.10034A>C (p.Glu3345Ala) c.5786A>C (p.Glu1929Ala) c.9014A>C (p.Glu3005Ala) | |
8 | g.99853543A>G | CA371780898 | VPS13B | c.10229A>G (p.Glu3410Gly) n.10299A>G c.*5911A>G (n.*5911A>G) c.10154A>G (p.Glu3385Gly) c.10226A>G (p.Glu3409Gly) c.10151A>G (p.Glu3384Gly) c.9851A>G (p.Glu3284Gly) c.7115A>G (p.Glu2372Gly) c.6008A>G (p.Glu2003Gly) c.10034A>G (p.Glu3345Gly) c.5786A>G (p.Glu1929Gly) c.9014A>G (p.Glu3005Gly) | |
8 | g.99853543A>T | CA371780899 | VPS13B | c.10229A>T (p.Glu3410Val) n.10299A>T c.*5911A>T (n.*5911A>T) c.10154A>T (p.Glu3385Val) c.10226A>T (p.Glu3409Val) c.10151A>T (p.Glu3384Val) c.9851A>T (p.Glu3284Val) c.7115A>T (p.Glu2372Val) c.6008A>T (p.Glu2003Val) c.10034A>T (p.Glu3345Val) c.5786A>T (p.Glu1929Val) c.9014A>T (p.Glu3005Val) | |
8 | g.99853544G>A | CA155936 | VPS13B | c.10230G>A (p.Glu3410=) n.10300G>A c.*5912G>A (n.*5912G>A) c.10155G>A (p.Glu3385=) c.10227G>A (p.Glu3409=) c.10152G>A (p.Glu3384=) c.9852G>A (p.Glu3284=) c.7116G>A (p.Glu2372=) c.6009G>A (p.Glu2003=) c.10035G>A (p.Glu3345=) c.5787G>A (p.Glu1929=) c.9015G>A (p.Glu3005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853544G>C | CA371780900 | VPS13B | c.10230G>C (p.Glu3410Asp) n.10300G>C c.*5912G>C (n.*5912G>C) c.10155G>C (p.Glu3385Asp) c.10227G>C (p.Glu3409Asp) c.10152G>C (p.Glu3384Asp) c.9852G>C (p.Glu3284Asp) c.7116G>C (p.Glu2372Asp) c.6009G>C (p.Glu2003Asp) c.10035G>C (p.Glu3345Asp) c.5787G>C (p.Glu1929Asp) c.9015G>C (p.Glu3005Asp) | |
8 | g.99853544G>T | CA371780901 | VPS13B | c.10230G>T (p.Glu3410Asp) n.10300G>T c.*5912G>T (n.*5912G>T) c.10155G>T (p.Glu3385Asp) c.10227G>T (p.Glu3409Asp) c.10152G>T (p.Glu3384Asp) c.9852G>T (p.Glu3284Asp) c.7116G>T (p.Glu2372Asp) c.6009G>T (p.Glu2003Asp) c.10035G>T (p.Glu3345Asp) c.5787G>T (p.Glu1929Asp) c.9015G>T (p.Glu3005Asp) | |
8 | g.99853545C>A | CA371780903 | VPS13B | c.10231C>A (p.Leu3411Ile) n.10301C>A c.*5913C>A (n.*5913C>A) c.10156C>A (p.Leu3386Ile) c.10228C>A (p.Leu3410Ile) c.10153C>A (p.Leu3385Ile) c.9853C>A (p.Leu3285Ile) c.7117C>A (p.Leu2373Ile) c.6010C>A (p.Leu2004Ile) c.10036C>A (p.Leu3346Ile) c.5788C>A (p.Leu1930Ile) c.9016C>A (p.Leu3006Ile) | |
8 | g.99853545C>G | CA371780902 | VPS13B | c.10231C>G (p.Leu3411Val) n.10301C>G c.*5913C>G (n.*5913C>G) c.10156C>G (p.Leu3386Val) c.10228C>G (p.Leu3410Val) c.10153C>G (p.Leu3385Val) c.9853C>G (p.Leu3285Val) c.7117C>G (p.Leu2373Val) c.6010C>G (p.Leu2004Val) c.10036C>G (p.Leu3346Val) c.5788C>G (p.Leu1930Val) c.9016C>G (p.Leu3006Val) | |
8 | g.99853545C>T | CA182314059 | VPS13B | c.10231C>T (p.Leu3411Phe) n.10301C>T c.*5913C>T (n.*5913C>T) c.10156C>T (p.Leu3386Phe) c.10228C>T (p.Leu3410Phe) c.10153C>T (p.Leu3385Phe) c.9853C>T (p.Leu3285Phe) c.7117C>T (p.Leu2373Phe) c.6010C>T (p.Leu2004Phe) c.10036C>T (p.Leu3346Phe) c.5788C>T (p.Leu1930Phe) c.9016C>T (p.Leu3006Phe) | dbSNP gnomAD v4 |
8 | g.99853546T>A | CA371780904 | VPS13B | c.10232T>A (p.Leu3411His) n.10302T>A c.*5914T>A (n.*5914T>A) c.10157T>A (p.Leu3386His) c.10229T>A (p.Leu3410His) c.10154T>A (p.Leu3385His) c.9854T>A (p.Leu3285His) c.7118T>A (p.Leu2373His) c.6011T>A (p.Leu2004His) c.10037T>A (p.Leu3346His) c.5789T>A (p.Leu1930His) c.9017T>A (p.Leu3006His) | |
8 | g.99853546T>C | CA371780905 | VPS13B | c.10232T>C (p.Leu3411Pro) n.10302T>C c.*5914T>C (n.*5914T>C) c.10157T>C (p.Leu3386Pro) c.10229T>C (p.Leu3410Pro) c.10154T>C (p.Leu3385Pro) c.9854T>C (p.Leu3285Pro) c.7118T>C (p.Leu2373Pro) c.6011T>C (p.Leu2004Pro) c.10037T>C (p.Leu3346Pro) c.5789T>C (p.Leu1930Pro) c.9017T>C (p.Leu3006Pro) | gnomAD v4 |
8 | g.99853546T>G | CA371780906 | VPS13B | c.10232T>G (p.Leu3411Arg) n.10302T>G c.*5914T>G (n.*5914T>G) c.10157T>G (p.Leu3386Arg) c.10229T>G (p.Leu3410Arg) c.10154T>G (p.Leu3385Arg) c.9854T>G (p.Leu3285Arg) c.7118T>G (p.Leu2373Arg) c.6011T>G (p.Leu2004Arg) c.10037T>G (p.Leu3346Arg) c.5789T>G (p.Leu1930Arg) c.9017T>G (p.Leu3006Arg) | |
8 | g.99853547T>A | CA462458073 | VPS13B | c.10233T>A (p.Leu3411=) n.10303T>A c.*5915T>A (n.*5915T>A) c.10158T>A (p.Leu3386=) c.10230T>A (p.Leu3410=) c.10155T>A (p.Leu3385=) c.9855T>A (p.Leu3285=) c.7119T>A (p.Leu2373=) c.6012T>A (p.Leu2004=) c.10038T>A (p.Leu3346=) c.5790T>A (p.Leu1930=) c.9018T>A (p.Leu3006=) | |
8 | g.99853547T>C | CA462458074 | VPS13B | c.10233T>C (p.Leu3411=) n.10303T>C c.*5915T>C (n.*5915T>C) c.10158T>C (p.Leu3386=) c.10230T>C (p.Leu3410=) c.10155T>C (p.Leu3385=) c.9855T>C (p.Leu3285=) c.7119T>C (p.Leu2373=) c.6012T>C (p.Leu2004=) c.10038T>C (p.Leu3346=) c.5790T>C (p.Leu1930=) c.9018T>C (p.Leu3006=) | |
8 | g.99853547T>G | CA462458075 | VPS13B | c.10233T>G (p.Leu3411=) n.10303T>G c.*5915T>G (n.*5915T>G) c.10158T>G (p.Leu3386=) c.10230T>G (p.Leu3410=) c.10155T>G (p.Leu3385=) c.9855T>G (p.Leu3285=) c.7119T>G (p.Leu2373=) c.6012T>G (p.Leu2004=) c.10038T>G (p.Leu3346=) c.5790T>G (p.Leu1930=) c.9018T>G (p.Leu3006=) | |
8 | g.99853548C>A | CA371780907 | VPS13B | c.10234C>A (p.Leu3412Met) n.10304C>A c.*5916C>A (n.*5916C>A) c.10159C>A (p.Leu3387Met) c.10231C>A (p.Leu3411Met) c.10156C>A (p.Leu3386Met) c.9856C>A (p.Leu3286Met) c.7120C>A (p.Leu2374Met) c.6013C>A (p.Leu2005Met) c.10039C>A (p.Leu3347Met) c.5791C>A (p.Leu1931Met) c.9019C>A (p.Leu3007Met) | |
8 | g.99853548C>G | CA371780908 | VPS13B | c.10234C>G (p.Leu3412Val) n.10304C>G c.*5916C>G (n.*5916C>G) c.10159C>G (p.Leu3387Val) c.10231C>G (p.Leu3411Val) c.10156C>G (p.Leu3386Val) c.9856C>G (p.Leu3286Val) c.7120C>G (p.Leu2374Val) c.6013C>G (p.Leu2005Val) c.10039C>G (p.Leu3347Val) c.5791C>G (p.Leu1931Val) c.9019C>G (p.Leu3007Val) | ClinVar |
8 | g.99853548C>T | CA462458076 | VPS13B | c.10234C>T (p.Leu3412=) n.10304C>T c.*5916C>T (n.*5916C>T) c.10159C>T (p.Leu3387=) c.10231C>T (p.Leu3411=) c.10156C>T (p.Leu3386=) c.9856C>T (p.Leu3286=) c.7120C>T (p.Leu2374=) c.6013C>T (p.Leu2005=) c.10039C>T (p.Leu3347=) c.5791C>T (p.Leu1931=) c.9019C>T (p.Leu3007=) | ClinVar dbSNP gnomAD v4 |
8 | g.99853549T>A | CA371780909 | VPS13B | c.10235T>A (p.Leu3412Gln) n.10305T>A c.*5917T>A (n.*5917T>A) c.10160T>A (p.Leu3387Gln) c.10232T>A (p.Leu3411Gln) c.10157T>A (p.Leu3386Gln) c.9857T>A (p.Leu3286Gln) c.7121T>A (p.Leu2374Gln) c.6014T>A (p.Leu2005Gln) c.10040T>A (p.Leu3347Gln) c.5792T>A (p.Leu1931Gln) c.9020T>A (p.Leu3007Gln) | |
8 | g.99853549T>C | CA371780911 | VPS13B | c.10235T>C (p.Leu3412Pro) n.10305T>C c.*5917T>C (n.*5917T>C) c.10160T>C (p.Leu3387Pro) c.10232T>C (p.Leu3411Pro) c.10157T>C (p.Leu3386Pro) c.9857T>C (p.Leu3286Pro) c.7121T>C (p.Leu2374Pro) c.6014T>C (p.Leu2005Pro) c.10040T>C (p.Leu3347Pro) c.5792T>C (p.Leu1931Pro) c.9020T>C (p.Leu3007Pro) | |
8 | g.99853549T>G | CA371780910 | VPS13B | c.10235T>G (p.Leu3412Arg) n.10305T>G c.*5917T>G (n.*5917T>G) c.10160T>G (p.Leu3387Arg) c.10232T>G (p.Leu3411Arg) c.10157T>G (p.Leu3386Arg) c.9857T>G (p.Leu3286Arg) c.7121T>G (p.Leu2374Arg) c.6014T>G (p.Leu2005Arg) c.10040T>G (p.Leu3347Arg) c.5792T>G (p.Leu1931Arg) c.9020T>G (p.Leu3007Arg) | |
8 | g.99853550G>A | CA182314062 | VPS13B | c.10236G>A (p.Leu3412=) n.10306G>A c.*5918G>A (n.*5918G>A) c.10161G>A (p.Leu3387=) c.10233G>A (p.Leu3411=) c.10158G>A (p.Leu3386=) c.9858G>A (p.Leu3286=) c.7122G>A (p.Leu2374=) c.6015G>A (p.Leu2005=) c.10041G>A (p.Leu3347=) c.5793G>A (p.Leu1931=) c.9021G>A (p.Leu3007=) | dbSNP |
8 | g.99853550G>C | CA462458077 | VPS13B | c.10236G>C (p.Leu3412=) n.10306G>C c.*5918G>C (n.*5918G>C) c.10161G>C (p.Leu3387=) c.10233G>C (p.Leu3411=) c.10158G>C (p.Leu3386=) c.9858G>C (p.Leu3286=) c.7122G>C (p.Leu2374=) c.6015G>C (p.Leu2005=) c.10041G>C (p.Leu3347=) c.5793G>C (p.Leu1931=) c.9021G>C (p.Leu3007=) | dbSNP |
8 | g.99853550G>T | CA462458078 | VPS13B | c.10236G>T (p.Leu3412=) n.10306G>T c.*5918G>T (n.*5918G>T) c.10161G>T (p.Leu3387=) c.10233G>T (p.Leu3411=) c.10158G>T (p.Leu3386=) c.9858G>T (p.Leu3286=) c.7122G>T (p.Leu2374=) c.6015G>T (p.Leu2005=) c.10041G>T (p.Leu3347=) c.5793G>T (p.Leu1931=) c.9021G>T (p.Leu3007=) | |
8 | g.99853550_99853559del | CA2579210869 | VPS13B | c.10236_10245del (p.Arg3413TrpfsTer?) n.10306_10315del c.*5918_*5927del (n.*5918_*5927del) c.10161_10170del (p.Arg3388TrpfsTer?) c.10233_10242del (p.Arg3412TrpfsTer?) c.10158_10167del (p.Arg3387TrpfsTer?) c.9858_9867del (p.Arg3287TrpfsTer?) c.7122_7131del (p.Arg2375TrpfsTer?) c.6015_6024del (p.Arg2006TrpfsTer?) c.10041_10050del (p.Arg3348TrpfsTer?) c.5793_5802del (p.Arg1932TrpfsTer?) c.9021_9030del (p.Arg3008TrpfsTer?) | ClinVar |
8 | g.99853551A>C | CA462458079 | VPS13B | c.10237A>C (p.Arg3413=) n.10307A>C c.*5919A>C (n.*5919A>C) c.10162A>C (p.Arg3388=) c.10234A>C (p.Arg3412=) c.10159A>C (p.Arg3387=) c.9859A>C (p.Arg3287=) c.7123A>C (p.Arg2375=) c.6016A>C (p.Arg2006=) c.10042A>C (p.Arg3348=) c.5794A>C (p.Arg1932=) c.9022A>C (p.Arg3008=) | |
8 | g.99853551A>G | CA371780912 | VPS13B | c.10237A>G (p.Arg3413Gly) n.10307A>G c.*5919A>G (n.*5919A>G) c.10162A>G (p.Arg3388Gly) c.10234A>G (p.Arg3412Gly) c.10159A>G (p.Arg3387Gly) c.9859A>G (p.Arg3287Gly) c.7123A>G (p.Arg2375Gly) c.6016A>G (p.Arg2006Gly) c.10042A>G (p.Arg3348Gly) c.5794A>G (p.Arg1932Gly) c.9022A>G (p.Arg3008Gly) | |
8 | g.99853551A>T | CA371780913 | VPS13B | c.10237A>T (p.Arg3413Ter) n.10307A>T c.*5919A>T (n.*5919A>T) c.10162A>T (p.Arg3388Ter) c.10234A>T (p.Arg3412Ter) c.10159A>T (p.Arg3387Ter) c.9859A>T (p.Arg3287Ter) c.7123A>T (p.Arg2375Ter) c.6016A>T (p.Arg2006Ter) c.10042A>T (p.Arg3348Ter) c.5794A>T (p.Arg1932Ter) c.9022A>T (p.Arg3008Ter) | |
8 | g.99853552G>A | CA371780914 | VPS13B | c.10238G>A (p.Arg3413Lys) n.10308G>A c.*5920G>A (n.*5920G>A) c.10163G>A (p.Arg3388Lys) c.10235G>A (p.Arg3412Lys) c.10160G>A (p.Arg3387Lys) c.9860G>A (p.Arg3287Lys) c.7124G>A (p.Arg2375Lys) c.6017G>A (p.Arg2006Lys) c.10043G>A (p.Arg3348Lys) c.5795G>A (p.Arg1932Lys) c.9023G>A (p.Arg3008Lys) | |
8 | g.99853552G>C | CA371780915 | VPS13B | c.10238G>C (p.Arg3413Thr) n.10308G>C c.*5920G>C (n.*5920G>C) c.10163G>C (p.Arg3388Thr) c.10235G>C (p.Arg3412Thr) c.10160G>C (p.Arg3387Thr) c.9860G>C (p.Arg3287Thr) c.7124G>C (p.Arg2375Thr) c.6017G>C (p.Arg2006Thr) c.10043G>C (p.Arg3348Thr) c.5795G>C (p.Arg1932Thr) c.9023G>C (p.Arg3008Thr) | |
8 | g.99853552G>T | CA371780916 | VPS13B | c.10238G>T (p.Arg3413Ile) n.10308G>T c.*5920G>T (n.*5920G>T) c.10163G>T (p.Arg3388Ile) c.10235G>T (p.Arg3412Ile) c.10160G>T (p.Arg3387Ile) c.9860G>T (p.Arg3287Ile) c.7124G>T (p.Arg2375Ile) c.6017G>T (p.Arg2006Ile) c.10043G>T (p.Arg3348Ile) c.5795G>T (p.Arg1932Ile) c.9023G>T (p.Arg3008Ile) | gnomAD v4 |
8 | g.99853553A>C | CA371780917 | VPS13B | c.10239A>C (p.Arg3413Ser) n.10309A>C c.*5921A>C (n.*5921A>C) c.10164A>C (p.Arg3388Ser) c.10236A>C (p.Arg3412Ser) c.10161A>C (p.Arg3387Ser) c.9861A>C (p.Arg3287Ser) c.7125A>C (p.Arg2375Ser) c.6018A>C (p.Arg2006Ser) c.10044A>C (p.Arg3348Ser) c.5796A>C (p.Arg1932Ser) c.9024A>C (p.Arg3008Ser) | |
8 | g.99853553A>G | CA462458080 | VPS13B | c.10239A>G (p.Arg3413=) n.10309A>G c.*5921A>G (n.*5921A>G) c.10164A>G (p.Arg3388=) c.10236A>G (p.Arg3412=) c.10161A>G (p.Arg3387=) c.9861A>G (p.Arg3287=) c.7125A>G (p.Arg2375=) c.6018A>G (p.Arg2006=) c.10044A>G (p.Arg3348=) c.5796A>G (p.Arg1932=) c.9024A>G (p.Arg3008=) | |
8 | g.99853553A>T | CA371780918 | VPS13B | c.10239A>T (p.Arg3413Ser) n.10309A>T c.*5921A>T (n.*5921A>T) c.10164A>T (p.Arg3388Ser) c.10236A>T (p.Arg3412Ser) c.10161A>T (p.Arg3387Ser) c.9861A>T (p.Arg3287Ser) c.7125A>T (p.Arg2375Ser) c.6018A>T (p.Arg2006Ser) c.10044A>T (p.Arg3348Ser) c.5796A>T (p.Arg1932Ser) c.9024A>T (p.Arg3008Ser) | |
8 | g.99853553_99853555del | CA913128135 | VPS13B | c.10239_10241del (p.Arg3413_Leu3414delinsSer) n.10309_10311del c.*5921_*5923del (n.*5921_*5923del) c.10164_10166del (p.Arg3388_Leu3389delinsSer) c.10236_10238del (p.Arg3412_Leu3413delinsSer) c.10161_10163del (p.Arg3387_Leu3388delinsSer) c.9861_9863del (p.Arg3287_Leu3288delinsSer) c.7125_7127del (p.Arg2375_Leu2376delinsSer) c.6018_6020del (p.Arg2006_Leu2007delinsSer) c.10044_10046del (p.Arg3348_Leu3349delinsSer) c.5796_5798del (p.Arg1932_Leu1933delinsSer) c.9024_9026del (p.Arg3008_Leu3009delinsSer) | |
8 | g.99853554C>A | CA371780919 | VPS13B | c.10240C>A (p.Leu3414Ile) n.10310C>A c.*5922C>A (n.*5922C>A) c.10165C>A (p.Leu3389Ile) c.10237C>A (p.Leu3413Ile) c.10162C>A (p.Leu3388Ile) c.9862C>A (p.Leu3288Ile) c.7126C>A (p.Leu2376Ile) c.6019C>A (p.Leu2007Ile) c.10045C>A (p.Leu3349Ile) c.5797C>A (p.Leu1933Ile) c.9025C>A (p.Leu3009Ile) | |
8 | g.99853554C>G | CA371780920 | VPS13B | c.10240C>G (p.Leu3414Val) n.10310C>G c.*5922C>G (n.*5922C>G) c.10165C>G (p.Leu3389Val) c.10237C>G (p.Leu3413Val) c.10162C>G (p.Leu3388Val) c.9862C>G (p.Leu3288Val) c.7126C>G (p.Leu2376Val) c.6019C>G (p.Leu2007Val) c.10045C>G (p.Leu3349Val) c.5797C>G (p.Leu1933Val) c.9025C>G (p.Leu3009Val) | gnomAD v4 |
8 | g.99853554C>T | CA371780921 | VPS13B | c.10240C>T (p.Leu3414Phe) n.10310C>T c.*5922C>T (n.*5922C>T) c.10165C>T (p.Leu3389Phe) c.10237C>T (p.Leu3413Phe) c.10162C>T (p.Leu3388Phe) c.9862C>T (p.Leu3288Phe) c.7126C>T (p.Leu2376Phe) c.6019C>T (p.Leu2007Phe) c.10045C>T (p.Leu3349Phe) c.5797C>T (p.Leu1933Phe) c.9025C>T (p.Leu3009Phe) | |
8 | g.99853555_99853556del | CA658821909 | VPS13B | c.10241_10242del (p.Leu3414HisfsTer27) n.10311_10312del c.*5923_*5924del (n.*5923_*5924del) c.10166_10167del (p.Leu3389HisfsTer27) c.10238_10239del (p.Leu3413HisfsTer27) c.10163_10164del (p.Leu3388HisfsTer27) c.9863_9864del (p.Leu3288HisfsTer27) c.7127_7128del (p.Leu2376HisfsTer27) c.6020_6021del (p.Leu2007HisfsTer27) c.10046_10047del (p.Leu3349HisfsTer27) c.5798_5799del (p.Leu1933HisfsTer27) c.9026_9027del (p.Leu3009HisfsTer27) | ClinVar dbSNP gnomAD v4 |
8 | g.99853554_99853596del | CA10576250 | VPS13B | c.10240_10282del (p.Leu3414ValfsTer27) n.10310_10352del c.*5922_*5964del (n.*5922_*5964del) c.10165_10207del (p.Leu3389ValfsTer27) c.10237_10279del (p.Leu3413ValfsTer27) c.10162_10204del (p.Leu3388ValfsTer27) c.9862_9904del (p.Leu3288ValfsTer27) c.7126_7168del (p.Leu2376ValfsTer27) c.6019_6061del (p.Leu2007ValfsTer27) c.10045_10087del (p.Leu3349ValfsTer27) c.5797_5839del (p.Leu1933ValfsTer27) c.9025_9067del (p.Leu3009ValfsTer27) | ClinVar dbSNP |
8 | g.99853555T>A | CA371780922 | VPS13B | c.10241T>A (p.Leu3414His) n.10311T>A c.*5923T>A (n.*5923T>A) c.10166T>A (p.Leu3389His) c.10238T>A (p.Leu3413His) c.10163T>A (p.Leu3388His) c.9863T>A (p.Leu3288His) c.7127T>A (p.Leu2376His) c.6020T>A (p.Leu2007His) c.10046T>A (p.Leu3349His) c.5798T>A (p.Leu1933His) c.9026T>A (p.Leu3009His) | |
8 | g.99853555T>C | CA371780924 | VPS13B | c.10241T>C (p.Leu3414Pro) n.10311T>C c.*5923T>C (n.*5923T>C) c.10166T>C (p.Leu3389Pro) c.10238T>C (p.Leu3413Pro) c.10163T>C (p.Leu3388Pro) c.9863T>C (p.Leu3288Pro) c.7127T>C (p.Leu2376Pro) c.6020T>C (p.Leu2007Pro) c.10046T>C (p.Leu3349Pro) c.5798T>C (p.Leu1933Pro) c.9026T>C (p.Leu3009Pro) | |
8 | g.99853555T>G | CA371780923 | VPS13B | c.10241T>G (p.Leu3414Arg) n.10311T>G c.*5923T>G (n.*5923T>G) c.10166T>G (p.Leu3389Arg) c.10238T>G (p.Leu3413Arg) c.10163T>G (p.Leu3388Arg) c.9863T>G (p.Leu3288Arg) c.7127T>G (p.Leu2376Arg) c.6020T>G (p.Leu2007Arg) c.10046T>G (p.Leu3349Arg) c.5798T>G (p.Leu1933Arg) c.9026T>G (p.Leu3009Arg) | |
8 | g.99853556C>A | CA462458083 | VPS13B | c.10242C>A (p.Leu3414=) n.10312C>A c.*5924C>A (n.*5924C>A) c.10167C>A (p.Leu3389=) c.10239C>A (p.Leu3413=) c.10164C>A (p.Leu3388=) c.9864C>A (p.Leu3288=) c.7128C>A (p.Leu2376=) c.6021C>A (p.Leu2007=) c.10047C>A (p.Leu3349=) c.5799C>A (p.Leu1933=) c.9027C>A (p.Leu3009=) | |
8 | g.99853556C>G | CA462458082 | VPS13B | c.10242C>G (p.Leu3414=) n.10312C>G c.*5924C>G (n.*5924C>G) c.10167C>G (p.Leu3389=) c.10239C>G (p.Leu3413=) c.10164C>G (p.Leu3388=) c.9864C>G (p.Leu3288=) c.7128C>G (p.Leu2376=) c.6021C>G (p.Leu2007=) c.10047C>G (p.Leu3349=) c.5799C>G (p.Leu1933=) c.9027C>G (p.Leu3009=) | |
8 | g.99853556C>T | CA462458081 | VPS13B | c.10242C>T (p.Leu3414=) n.10312C>T c.*5924C>T (n.*5924C>T) c.10167C>T (p.Leu3389=) c.10239C>T (p.Leu3413=) c.10164C>T (p.Leu3388=) c.9864C>T (p.Leu3288=) c.7128C>T (p.Leu2376=) c.6021C>T (p.Leu2007=) c.10047C>T (p.Leu3349=) c.5799C>T (p.Leu1933=) c.9027C>T (p.Leu3009=) | COSMIC COSMIC |
8 | g.99853559_99853560del | CA4824903 | VPS13B | c.10245_10246del (p.Leu3416GlyfsTer25) n.10315_10316del c.*5927_*5928del (n.*5927_*5928del) c.10170_10171del (p.Leu3391GlyfsTer25) c.10242_10243del (p.Leu3415GlyfsTer25) c.10167_10168del (p.Leu3390GlyfsTer25) c.9867_9868del (p.Leu3290GlyfsTer25) c.7131_7132del (p.Leu2378GlyfsTer25) c.6024_6025del (p.Leu2009GlyfsTer25) c.10050_10051del (p.Leu3351GlyfsTer25) c.5802_5803del (p.Leu1935GlyfsTer25) c.9030_9031del (p.Leu3011GlyfsTer25) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853557A>C | CA371780927 | VPS13B | c.10243A>C (p.Thr3415Pro) n.10313A>C c.*5925A>C (n.*5925A>C) c.10168A>C (p.Thr3390Pro) c.10240A>C (p.Thr3414Pro) c.10165A>C (p.Thr3389Pro) c.9865A>C (p.Thr3289Pro) c.7129A>C (p.Thr2377Pro) c.6022A>C (p.Thr2008Pro) c.10048A>C (p.Thr3350Pro) c.5800A>C (p.Thr1934Pro) c.9028A>C (p.Thr3010Pro) | |
8 | g.99853557A>G | CA371780925 | VPS13B | c.10243A>G (p.Thr3415Ala) n.10313A>G c.*5925A>G (n.*5925A>G) c.10168A>G (p.Thr3390Ala) c.10240A>G (p.Thr3414Ala) c.10165A>G (p.Thr3389Ala) c.9865A>G (p.Thr3289Ala) c.7129A>G (p.Thr2377Ala) c.6022A>G (p.Thr2008Ala) c.10048A>G (p.Thr3350Ala) c.5800A>G (p.Thr1934Ala) c.9028A>G (p.Thr3010Ala) | |
8 | g.99853557A>T | CA371780926 | VPS13B | c.10243A>T (p.Thr3415Ser) n.10313A>T c.*5925A>T (n.*5925A>T) c.10168A>T (p.Thr3390Ser) c.10240A>T (p.Thr3414Ser) c.10165A>T (p.Thr3389Ser) c.9865A>T (p.Thr3289Ser) c.7129A>T (p.Thr2377Ser) c.6022A>T (p.Thr2008Ser) c.10048A>T (p.Thr3350Ser) c.5800A>T (p.Thr1934Ser) c.9028A>T (p.Thr3010Ser) | |
8 | g.99853558C>A | CA371780928 | VPS13B | c.10244C>A (p.Thr3415Lys) n.10314C>A c.*5926C>A (n.*5926C>A) c.10169C>A (p.Thr3390Lys) c.10241C>A (p.Thr3414Lys) c.10166C>A (p.Thr3389Lys) c.9866C>A (p.Thr3289Lys) c.7130C>A (p.Thr2377Lys) c.6023C>A (p.Thr2008Lys) c.10049C>A (p.Thr3350Lys) c.5801C>A (p.Thr1934Lys) c.9029C>A (p.Thr3010Lys) | gnomAD v4 |
8 | g.99853558C>G | CA371780929 | VPS13B | c.10244C>G (p.Thr3415Arg) n.10314C>G c.*5926C>G (n.*5926C>G) c.10169C>G (p.Thr3390Arg) c.10241C>G (p.Thr3414Arg) c.10166C>G (p.Thr3389Arg) c.9866C>G (p.Thr3289Arg) c.7130C>G (p.Thr2377Arg) c.6023C>G (p.Thr2008Arg) c.10049C>G (p.Thr3350Arg) c.5801C>G (p.Thr1934Arg) c.9029C>G (p.Thr3010Arg) | ClinVar dbSNP |
8 | g.99853558C>T | CA4824904 | VPS13B | c.10244C>T (p.Thr3415Ile) n.10314C>T c.*5926C>T (n.*5926C>T) c.10169C>T (p.Thr3390Ile) c.10241C>T (p.Thr3414Ile) c.10166C>T (p.Thr3389Ile) c.9866C>T (p.Thr3289Ile) c.7130C>T (p.Thr2377Ile) c.6023C>T (p.Thr2008Ile) c.10049C>T (p.Thr3350Ile) c.5801C>T (p.Thr1934Ile) c.9029C>T (p.Thr3010Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853559A>C | CA462458086 | VPS13B | c.10245A>C (p.Thr3415=) n.10315A>C c.*5927A>C (n.*5927A>C) c.10170A>C (p.Thr3390=) c.10242A>C (p.Thr3414=) c.10167A>C (p.Thr3389=) c.9867A>C (p.Thr3289=) c.7131A>C (p.Thr2377=) c.6024A>C (p.Thr2008=) c.10050A>C (p.Thr3350=) c.5802A>C (p.Thr1934=) c.9030A>C (p.Thr3010=) | ClinVar |
8 | g.99853559A>G | CA462458085 | VPS13B | c.10245A>G (p.Thr3415=) n.10315A>G c.*5927A>G (n.*5927A>G) c.10170A>G (p.Thr3390=) c.10242A>G (p.Thr3414=) c.10167A>G (p.Thr3389=) c.9867A>G (p.Thr3289=) c.7131A>G (p.Thr2377=) c.6024A>G (p.Thr2008=) c.10050A>G (p.Thr3350=) c.5802A>G (p.Thr1934=) c.9030A>G (p.Thr3010=) | |
8 | g.99853559A>T | CA462458084 | VPS13B | c.10245A>T (p.Thr3415=) n.10315A>T c.*5927A>T (n.*5927A>T) c.10170A>T (p.Thr3390=) c.10242A>T (p.Thr3414=) c.10167A>T (p.Thr3389=) c.9867A>T (p.Thr3289=) c.7131A>T (p.Thr2377=) c.6024A>T (p.Thr2008=) c.10050A>T (p.Thr3350=) c.5802A>T (p.Thr1934=) c.9030A>T (p.Thr3010=) | |
8 | g.99853560C>A | CA371780930 | VPS13B | c.10246C>A (p.Leu3416Met) n.10316C>A c.*5928C>A (n.*5928C>A) c.10171C>A (p.Leu3391Met) c.10243C>A (p.Leu3415Met) c.10168C>A (p.Leu3390Met) c.9868C>A (p.Leu3290Met) c.7132C>A (p.Leu2378Met) c.6025C>A (p.Leu2009Met) c.10051C>A (p.Leu3351Met) c.5803C>A (p.Leu1935Met) c.9031C>A (p.Leu3011Met) | |
8 | g.99853560C>G | CA371780931 | VPS13B | c.10246C>G (p.Leu3416Val) n.10316C>G c.*5928C>G (n.*5928C>G) c.10171C>G (p.Leu3391Val) c.10243C>G (p.Leu3415Val) c.10168C>G (p.Leu3390Val) c.9868C>G (p.Leu3290Val) c.7132C>G (p.Leu2378Val) c.6025C>G (p.Leu2009Val) c.10051C>G (p.Leu3351Val) c.5803C>G (p.Leu1935Val) c.9031C>G (p.Leu3011Val) | |
8 | g.99853560C>T | CA462458087 | VPS13B | c.10246C>T (p.Leu3416=) n.10316C>T c.*5928C>T (n.*5928C>T) c.10171C>T (p.Leu3391=) c.10243C>T (p.Leu3415=) c.10168C>T (p.Leu3390=) c.9868C>T (p.Leu3290=) c.7132C>T (p.Leu2378=) c.6025C>T (p.Leu2009=) c.10051C>T (p.Leu3351=) c.5803C>T (p.Leu1935=) c.9031C>T (p.Leu3011=) | ClinVar dbSNP gnomAD v4 |
8 | g.99853561T>A | CA371780932 | VPS13B | c.10247T>A (p.Leu3416Gln) n.10317T>A c.*5929T>A (n.*5929T>A) c.10172T>A (p.Leu3391Gln) c.10244T>A (p.Leu3415Gln) c.10169T>A (p.Leu3390Gln) c.9869T>A (p.Leu3290Gln) c.7133T>A (p.Leu2378Gln) c.6026T>A (p.Leu2009Gln) c.10052T>A (p.Leu3351Gln) c.5804T>A (p.Leu1935Gln) c.9032T>A (p.Leu3011Gln) | |
8 | g.99853561T>C | CA371780933 | VPS13B | c.10247T>C (p.Leu3416Pro) n.10317T>C c.*5929T>C (n.*5929T>C) c.10172T>C (p.Leu3391Pro) c.10244T>C (p.Leu3415Pro) c.10169T>C (p.Leu3390Pro) c.9869T>C (p.Leu3290Pro) c.7133T>C (p.Leu2378Pro) c.6026T>C (p.Leu2009Pro) c.10052T>C (p.Leu3351Pro) c.5804T>C (p.Leu1935Pro) c.9032T>C (p.Leu3011Pro) | gnomAD v4 |
8 | g.99853561T>G | CA371780934 | VPS13B | c.10247T>G (p.Leu3416Arg) n.10317T>G c.*5929T>G (n.*5929T>G) c.10172T>G (p.Leu3391Arg) c.10244T>G (p.Leu3415Arg) c.10169T>G (p.Leu3390Arg) c.9869T>G (p.Leu3290Arg) c.7133T>G (p.Leu2378Arg) c.6026T>G (p.Leu2009Arg) c.10052T>G (p.Leu3351Arg) c.5804T>G (p.Leu1935Arg) c.9032T>G (p.Leu3011Arg) | |
8 | g.99853562G>A | CA462458090 | VPS13B | c.10248G>A (p.Leu3416=) n.10318G>A c.*5930G>A (n.*5930G>A) c.10173G>A (p.Leu3391=) c.10245G>A (p.Leu3415=) c.10170G>A (p.Leu3390=) c.9870G>A (p.Leu3290=) c.7134G>A (p.Leu2378=) c.6027G>A (p.Leu2009=) c.10053G>A (p.Leu3351=) c.5805G>A (p.Leu1935=) c.9033G>A (p.Leu3011=) | ClinVar dbSNP |
8 | g.99853562G>C | CA462458089 | VPS13B | c.10248G>C (p.Leu3416=) n.10318G>C c.*5930G>C (n.*5930G>C) c.10173G>C (p.Leu3391=) c.10245G>C (p.Leu3415=) c.10170G>C (p.Leu3390=) c.9870G>C (p.Leu3290=) c.7134G>C (p.Leu2378=) c.6027G>C (p.Leu2009=) c.10053G>C (p.Leu3351=) c.5805G>C (p.Leu1935=) c.9033G>C (p.Leu3011=) | |
8 | g.99853562G>T | CA462458088 | VPS13B | c.10248G>T (p.Leu3416=) n.10318G>T c.*5930G>T (n.*5930G>T) c.10173G>T (p.Leu3391=) c.10245G>T (p.Leu3415=) c.10170G>T (p.Leu3390=) c.9870G>T (p.Leu3290=) c.7134G>T (p.Leu2378=) c.6027G>T (p.Leu2009=) c.10053G>T (p.Leu3351=) c.5805G>T (p.Leu1935=) c.9033G>T (p.Leu3011=) | |
8 | g.99853563G>A | CA371780935 | VPS13B | c.10249G>A (p.Asp3417Asn) n.10319G>A c.*5931G>A (n.*5931G>A) c.10174G>A (p.Asp3392Asn) c.10246G>A (p.Asp3416Asn) c.10171G>A (p.Asp3391Asn) c.9871G>A (p.Asp3291Asn) c.7135G>A (p.Asp2379Asn) c.6028G>A (p.Asp2010Asn) c.10054G>A (p.Asp3352Asn) c.5806G>A (p.Asp1936Asn) c.9034G>A (p.Asp3012Asn) | |
8 | g.99853563G>C | CA4824905 | VPS13B | c.10249G>C (p.Asp3417His) n.10319G>C c.*5931G>C (n.*5931G>C) c.10174G>C (p.Asp3392His) c.10246G>C (p.Asp3416His) c.10171G>C (p.Asp3391His) c.9871G>C (p.Asp3291His) c.7135G>C (p.Asp2379His) c.6028G>C (p.Asp2010His) c.10054G>C (p.Asp3352His) c.5806G>C (p.Asp1936His) c.9034G>C (p.Asp3012His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853563G>T | CA371780936 | VPS13B | c.10249G>T (p.Asp3417Tyr) n.10319G>T c.*5931G>T (n.*5931G>T) c.10174G>T (p.Asp3392Tyr) c.10246G>T (p.Asp3416Tyr) c.10171G>T (p.Asp3391Tyr) c.9871G>T (p.Asp3291Tyr) c.7135G>T (p.Asp2379Tyr) c.6028G>T (p.Asp2010Tyr) c.10054G>T (p.Asp3352Tyr) c.5806G>T (p.Asp1936Tyr) c.9034G>T (p.Asp3012Tyr) | |
8 | g.99853563_99853566del | CA913128136 | VPS13B | c.10249_10252del (p.Asp3417ThrfsTer?) n.10319_10322del c.*5931_*5934del (n.*5931_*5934del) c.10174_10177del (p.Asp3392ThrfsTer?) c.10246_10249del (p.Asp3416ThrfsTer?) c.10171_10174del (p.Asp3391ThrfsTer?) c.9871_9874del (p.Asp3291ThrfsTer?) c.7135_7138del (p.Asp2379ThrfsTer?) c.6028_6031del (p.Asp2010ThrfsTer?) c.10054_10057del (p.Asp3352ThrfsTer?) c.5806_5809del (p.Asp1936ThrfsTer?) c.9034_9037del (p.Asp3012ThrfsTer?) | |
8 | g.99853564A>C | CA371780937 | VPS13B | c.10250A>C (p.Asp3417Ala) n.10320A>C c.*5932A>C (n.*5932A>C) c.10175A>C (p.Asp3392Ala) c.10247A>C (p.Asp3416Ala) c.10172A>C (p.Asp3391Ala) c.9872A>C (p.Asp3291Ala) c.7136A>C (p.Asp2379Ala) c.6029A>C (p.Asp2010Ala) c.10055A>C (p.Asp3352Ala) c.5807A>C (p.Asp1936Ala) c.9035A>C (p.Asp3012Ala) | |
8 | g.99853564A>G | CA371780939 | VPS13B | c.10250A>G (p.Asp3417Gly) n.10320A>G c.*5932A>G (n.*5932A>G) c.10175A>G (p.Asp3392Gly) c.10247A>G (p.Asp3416Gly) c.10172A>G (p.Asp3391Gly) c.9872A>G (p.Asp3291Gly) c.7136A>G (p.Asp2379Gly) c.6029A>G (p.Asp2010Gly) c.10055A>G (p.Asp3352Gly) c.5807A>G (p.Asp1936Gly) c.9035A>G (p.Asp3012Gly) | |
8 | g.99853564A>T | CA371780938 | VPS13B | c.10250A>T (p.Asp3417Val) n.10320A>T c.*5932A>T (n.*5932A>T) c.10175A>T (p.Asp3392Val) c.10247A>T (p.Asp3416Val) c.10172A>T (p.Asp3391Val) c.9872A>T (p.Asp3291Val) c.7136A>T (p.Asp2379Val) c.6029A>T (p.Asp2010Val) c.10055A>T (p.Asp3352Val) c.5807A>T (p.Asp1936Val) c.9035A>T (p.Asp3012Val) | |
8 | g.99853567_99853569del | CA658821910 | VPS13B | c.10253_10255del (p.Asn3418del) n.10323_10325del c.*5935_*5937del (n.*5935_*5937del) c.10178_10180del (p.Asn3393del) c.10250_10252del (p.Asn3417del) c.10175_10177del (p.Asn3392del) c.9875_9877del (p.Asn3292del) c.7139_7141del (p.Asn2380del) c.6032_6034del (p.Asn2011del) c.10058_10060del (p.Asn3353del) c.5810_5812del (p.Asn1937del) c.9038_9040del (p.Asn3013del) | ClinVar dbSNP |
8 | g.99853565C>A | CA371780940 | VPS13B | c.10251C>A (p.Asp3417Glu) n.10321C>A c.*5933C>A (n.*5933C>A) c.10176C>A (p.Asp3392Glu) c.10248C>A (p.Asp3416Glu) c.10173C>A (p.Asp3391Glu) c.9873C>A (p.Asp3291Glu) c.7137C>A (p.Asp2379Glu) c.6030C>A (p.Asp2010Glu) c.10056C>A (p.Asp3352Glu) c.5808C>A (p.Asp1936Glu) c.9036C>A (p.Asp3012Glu) | gnomAD v4 |
8 | g.99853565C>G | CA371780941 | VPS13B | c.10251C>G (p.Asp3417Glu) n.10321C>G c.*5933C>G (n.*5933C>G) c.10176C>G (p.Asp3392Glu) c.10248C>G (p.Asp3416Glu) c.10173C>G (p.Asp3391Glu) c.9873C>G (p.Asp3291Glu) c.7137C>G (p.Asp2379Glu) c.6030C>G (p.Asp2010Glu) c.10056C>G (p.Asp3352Glu) c.5808C>G (p.Asp1936Glu) c.9036C>G (p.Asp3012Glu) | |
8 | g.99853565C>T | CA462458091 | VPS13B | c.10251C>T (p.Asp3417=) n.10321C>T c.*5933C>T (n.*5933C>T) c.10176C>T (p.Asp3392=) c.10248C>T (p.Asp3416=) c.10173C>T (p.Asp3391=) c.9873C>T (p.Asp3291=) c.7137C>T (p.Asp2379=) c.6030C>T (p.Asp2010=) c.10056C>T (p.Asp3352=) c.5808C>T (p.Asp1936=) c.9036C>T (p.Asp3012=) | |
8 | g.99853566A>C | CA371780942 | VPS13B | c.10252A>C (p.Asn3418His) n.10322A>C c.*5934A>C (n.*5934A>C) c.10177A>C (p.Asn3393His) c.10249A>C (p.Asn3417His) c.10174A>C (p.Asn3392His) c.9874A>C (p.Asn3292His) c.7138A>C (p.Asn2380His) c.6031A>C (p.Asn2011His) c.10057A>C (p.Asn3353His) c.5809A>C (p.Asn1937His) c.9037A>C (p.Asn3013His) | |
8 | g.99853566A>G | CA371780943 | VPS13B | c.10252A>G (p.Asn3418Asp) n.10322A>G c.*5934A>G (n.*5934A>G) c.10177A>G (p.Asn3393Asp) c.10249A>G (p.Asn3417Asp) c.10174A>G (p.Asn3392Asp) c.9874A>G (p.Asn3292Asp) c.7138A>G (p.Asn2380Asp) c.6031A>G (p.Asn2011Asp) c.10057A>G (p.Asn3353Asp) c.5809A>G (p.Asn1937Asp) c.9037A>G (p.Asn3013Asp) | |
8 | g.99853566A>T | CA371780944 | VPS13B | c.10252A>T (p.Asn3418Tyr) n.10322A>T c.*5934A>T (n.*5934A>T) c.10177A>T (p.Asn3393Tyr) c.10249A>T (p.Asn3417Tyr) c.10174A>T (p.Asn3392Tyr) c.9874A>T (p.Asn3292Tyr) c.7138A>T (p.Asn2380Tyr) c.6031A>T (p.Asn2011Tyr) c.10057A>T (p.Asn3353Tyr) c.5809A>T (p.Asn1937Tyr) c.9037A>T (p.Asn3013Tyr) | |
8 | g.99853567A>C | CA371780945 | VPS13B | c.10253A>C (p.Asn3418Thr) n.10323A>C c.*5935A>C (n.*5935A>C) c.10178A>C (p.Asn3393Thr) c.10250A>C (p.Asn3417Thr) c.10175A>C (p.Asn3392Thr) c.9875A>C (p.Asn3292Thr) c.7139A>C (p.Asn2380Thr) c.6032A>C (p.Asn2011Thr) c.10058A>C (p.Asn3353Thr) c.5810A>C (p.Asn1937Thr) c.9038A>C (p.Asn3013Thr) | gnomAD v4 |
8 | g.99853567A>G | CA371780946 | VPS13B | c.10253A>G (p.Asn3418Ser) n.10323A>G c.*5935A>G (n.*5935A>G) c.10178A>G (p.Asn3393Ser) c.10250A>G (p.Asn3417Ser) c.10175A>G (p.Asn3392Ser) c.9875A>G (p.Asn3292Ser) c.7139A>G (p.Asn2380Ser) c.6032A>G (p.Asn2011Ser) c.10058A>G (p.Asn3353Ser) c.5810A>G (p.Asn1937Ser) c.9038A>G (p.Asn3013Ser) | |
8 | g.99853567A>T | CA371780947 | VPS13B | c.10253A>T (p.Asn3418Ile) n.10323A>T c.*5935A>T (n.*5935A>T) c.10178A>T (p.Asn3393Ile) c.10250A>T (p.Asn3417Ile) c.10175A>T (p.Asn3392Ile) c.9875A>T (p.Asn3292Ile) c.7139A>T (p.Asn2380Ile) c.6032A>T (p.Asn2011Ile) c.10058A>T (p.Asn3353Ile) c.5810A>T (p.Asn1937Ile) c.9038A>T (p.Asn3013Ile) | |
8 | g.99853568del | CA2688071924 | VPS13B | c.10254del (p.Asn3418LysfsTer?) n.10324del c.*5936del (n.*5936del) c.10179del (p.Asn3393LysfsTer?) c.10251del (p.Asn3417LysfsTer?) c.10176del (p.Asn3392LysfsTer?) c.9876del (p.Asn3292LysfsTer?) c.7140del (p.Asn2380LysfsTer?) c.6033del (p.Asn2011LysfsTer?) c.10059del (p.Asn3353LysfsTer?) c.5811del (p.Asn1937LysfsTer?) c.9039del (p.Asn3013LysfsTer?) | gnomAD v4 |
8 | g.99853568C>A | CA371780948 | VPS13B | c.10254C>A (p.Asn3418Lys) n.10324C>A c.*5936C>A (n.*5936C>A) c.10179C>A (p.Asn3393Lys) c.10251C>A (p.Asn3417Lys) c.10176C>A (p.Asn3392Lys) c.9876C>A (p.Asn3292Lys) c.7140C>A (p.Asn2380Lys) c.6033C>A (p.Asn2011Lys) c.10059C>A (p.Asn3353Lys) c.5811C>A (p.Asn1937Lys) c.9039C>A (p.Asn3013Lys) | |
8 | g.99853568C>G | CA371780949 | VPS13B | c.10254C>G (p.Asn3418Lys) n.10324C>G c.*5936C>G (n.*5936C>G) c.10179C>G (p.Asn3393Lys) c.10251C>G (p.Asn3417Lys) c.10176C>G (p.Asn3392Lys) c.9876C>G (p.Asn3292Lys) c.7140C>G (p.Asn2380Lys) c.6033C>G (p.Asn2011Lys) c.10059C>G (p.Asn3353Lys) c.5811C>G (p.Asn1937Lys) c.9039C>G (p.Asn3013Lys) | |
8 | g.99853568C>T | CA462458092 | VPS13B | c.10254C>T (p.Asn3418=) n.10324C>T c.*5936C>T (n.*5936C>T) c.10179C>T (p.Asn3393=) c.10251C>T (p.Asn3417=) c.10176C>T (p.Asn3392=) c.9876C>T (p.Asn3292=) c.7140C>T (p.Asn2380=) c.6033C>T (p.Asn2011=) c.10059C>T (p.Asn3353=) c.5811C>T (p.Asn1937=) c.9039C>T (p.Asn3013=) | |
8 | g.99853569A>C | CA371780951 | VPS13B | c.10255A>C (p.Ile3419Leu) n.10325A>C c.*5937A>C (n.*5937A>C) c.10180A>C (p.Ile3394Leu) c.10252A>C (p.Ile3418Leu) c.10177A>C (p.Ile3393Leu) c.9877A>C (p.Ile3293Leu) c.7141A>C (p.Ile2381Leu) c.6034A>C (p.Ile2012Leu) c.10060A>C (p.Ile3354Leu) c.5812A>C (p.Ile1938Leu) c.9040A>C (p.Ile3014Leu) | |
8 | g.99853569A>G | CA371780952 | VPS13B | c.10255A>G (p.Ile3419Val) n.10325A>G c.*5937A>G (n.*5937A>G) c.10180A>G (p.Ile3394Val) c.10252A>G (p.Ile3418Val) c.10177A>G (p.Ile3393Val) c.9877A>G (p.Ile3293Val) c.7141A>G (p.Ile2381Val) c.6034A>G (p.Ile2012Val) c.10060A>G (p.Ile3354Val) c.5812A>G (p.Ile1938Val) c.9040A>G (p.Ile3014Val) | |
8 | g.99853569A>T | CA371780950 | VPS13B | c.10255A>T (p.Ile3419Phe) n.10325A>T c.*5937A>T (n.*5937A>T) c.10180A>T (p.Ile3394Phe) c.10252A>T (p.Ile3418Phe) c.10177A>T (p.Ile3393Phe) c.9877A>T (p.Ile3293Phe) c.7141A>T (p.Ile2381Phe) c.6034A>T (p.Ile2012Phe) c.10060A>T (p.Ile3354Phe) c.5812A>T (p.Ile1938Phe) c.9040A>T (p.Ile3014Phe) | |
8 | g.99853570T>A | CA371780953 | VPS13B | c.10256T>A (p.Ile3419Asn) n.10326T>A c.*5938T>A (n.*5938T>A) c.10181T>A (p.Ile3394Asn) c.10253T>A (p.Ile3418Asn) c.10178T>A (p.Ile3393Asn) c.9878T>A (p.Ile3293Asn) c.7142T>A (p.Ile2381Asn) c.6035T>A (p.Ile2012Asn) c.10061T>A (p.Ile3354Asn) c.5813T>A (p.Ile1938Asn) c.9041T>A (p.Ile3014Asn) | |
8 | g.99853570T>C | CA371780954 | VPS13B | c.10256T>C (p.Ile3419Thr) n.10326T>C c.*5938T>C (n.*5938T>C) c.10181T>C (p.Ile3394Thr) c.10253T>C (p.Ile3418Thr) c.10178T>C (p.Ile3393Thr) c.9878T>C (p.Ile3293Thr) c.7142T>C (p.Ile2381Thr) c.6035T>C (p.Ile2012Thr) c.10061T>C (p.Ile3354Thr) c.5813T>C (p.Ile1938Thr) c.9041T>C (p.Ile3014Thr) | |
8 | g.99853570T>G | CA4824906 | VPS13B | c.10256T>G (p.Ile3419Ser) n.10326T>G c.*5938T>G (n.*5938T>G) c.10181T>G (p.Ile3394Ser) c.10253T>G (p.Ile3418Ser) c.10178T>G (p.Ile3393Ser) c.9878T>G (p.Ile3293Ser) c.7142T>G (p.Ile2381Ser) c.6035T>G (p.Ile2012Ser) c.10061T>G (p.Ile3354Ser) c.5813T>G (p.Ile1938Ser) c.9041T>G (p.Ile3014Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853571T>A | CA462458094 | VPS13B | c.10257T>A (p.Ile3419=) n.10327T>A c.*5939T>A (n.*5939T>A) c.10182T>A (p.Ile3394=) c.10254T>A (p.Ile3418=) c.10179T>A (p.Ile3393=) c.9879T>A (p.Ile3293=) c.7143T>A (p.Ile2381=) c.6036T>A (p.Ile2012=) c.10062T>A (p.Ile3354=) c.5814T>A (p.Ile1938=) c.9042T>A (p.Ile3014=) | |
8 | g.99853571T>C | CA462458093 | VPS13B | c.10257T>C (p.Ile3419=) n.10327T>C c.*5939T>C (n.*5939T>C) c.10182T>C (p.Ile3394=) c.10254T>C (p.Ile3418=) c.10179T>C (p.Ile3393=) c.9879T>C (p.Ile3293=) c.7143T>C (p.Ile2381=) c.6036T>C (p.Ile2012=) c.10062T>C (p.Ile3354=) c.5814T>C (p.Ile1938=) c.9042T>C (p.Ile3014=) | |
8 | g.99853571T>G | CA371780955 | VPS13B | c.10257T>G (p.Ile3419Met) n.10327T>G c.*5939T>G (n.*5939T>G) c.10182T>G (p.Ile3394Met) c.10254T>G (p.Ile3418Met) c.10179T>G (p.Ile3393Met) c.9879T>G (p.Ile3293Met) c.7143T>G (p.Ile2381Met) c.6036T>G (p.Ile2012Met) c.10062T>G (p.Ile3354Met) c.5814T>G (p.Ile1938Met) c.9042T>G (p.Ile3014Met) | |
8 | g.99853572T>A | CA371780956 | VPS13B | c.10258T>A (p.Phe3420Ile) n.10328T>A c.*5940T>A (n.*5940T>A) c.10183T>A (p.Phe3395Ile) c.10255T>A (p.Phe3419Ile) c.10180T>A (p.Phe3394Ile) c.9880T>A (p.Phe3294Ile) c.7144T>A (p.Phe2382Ile) c.6037T>A (p.Phe2013Ile) c.10063T>A (p.Phe3355Ile) c.5815T>A (p.Phe1939Ile) c.9043T>A (p.Phe3015Ile) | |
8 | g.99853572T>C | CA371780957 | VPS13B | c.10258T>C (p.Phe3420Leu) n.10328T>C c.*5940T>C (n.*5940T>C) c.10183T>C (p.Phe3395Leu) c.10255T>C (p.Phe3419Leu) c.10180T>C (p.Phe3394Leu) c.9880T>C (p.Phe3294Leu) c.7144T>C (p.Phe2382Leu) c.6037T>C (p.Phe2013Leu) c.10063T>C (p.Phe3355Leu) c.5815T>C (p.Phe1939Leu) c.9043T>C (p.Phe3015Leu) | |
8 | g.99853572T>G | CA371780958 | VPS13B | c.10258T>G (p.Phe3420Val) n.10328T>G c.*5940T>G (n.*5940T>G) c.10183T>G (p.Phe3395Val) c.10255T>G (p.Phe3419Val) c.10180T>G (p.Phe3394Val) c.9880T>G (p.Phe3294Val) c.7144T>G (p.Phe2382Val) c.6037T>G (p.Phe2013Val) c.10063T>G (p.Phe3355Val) c.5815T>G (p.Phe1939Val) c.9043T>G (p.Phe3015Val) | |
8 | g.99853573T>A | CA371780959 | VPS13B | c.10259T>A (p.Phe3420Tyr) n.10329T>A c.*5941T>A (n.*5941T>A) c.10184T>A (p.Phe3395Tyr) c.10256T>A (p.Phe3419Tyr) c.10181T>A (p.Phe3394Tyr) c.9881T>A (p.Phe3294Tyr) c.7145T>A (p.Phe2382Tyr) c.6038T>A (p.Phe2013Tyr) c.10064T>A (p.Phe3355Tyr) c.5816T>A (p.Phe1939Tyr) c.9044T>A (p.Phe3015Tyr) | |
8 | g.99853573T>C | CA371780960 | VPS13B | c.10259T>C (p.Phe3420Ser) n.10329T>C c.*5941T>C (n.*5941T>C) c.10184T>C (p.Phe3395Ser) c.10256T>C (p.Phe3419Ser) c.10181T>C (p.Phe3394Ser) c.9881T>C (p.Phe3294Ser) c.7145T>C (p.Phe2382Ser) c.6038T>C (p.Phe2013Ser) c.10064T>C (p.Phe3355Ser) c.5816T>C (p.Phe1939Ser) c.9044T>C (p.Phe3015Ser) | |
8 | g.99853573T>G | CA371780961 | VPS13B | c.10259T>G (p.Phe3420Cys) n.10329T>G c.*5941T>G (n.*5941T>G) c.10184T>G (p.Phe3395Cys) c.10256T>G (p.Phe3419Cys) c.10181T>G (p.Phe3394Cys) c.9881T>G (p.Phe3294Cys) c.7145T>G (p.Phe2382Cys) c.6038T>G (p.Phe2013Cys) c.10064T>G (p.Phe3355Cys) c.5816T>G (p.Phe1939Cys) c.9044T>G (p.Phe3015Cys) | |
8 | g.99853574T>A | CA371780962 | VPS13B | c.10260T>A (p.Phe3420Leu) n.10330T>A c.*5942T>A (n.*5942T>A) c.10185T>A (p.Phe3395Leu) c.10257T>A (p.Phe3419Leu) c.10182T>A (p.Phe3394Leu) c.9882T>A (p.Phe3294Leu) c.7146T>A (p.Phe2382Leu) c.6039T>A (p.Phe2013Leu) c.10065T>A (p.Phe3355Leu) c.5817T>A (p.Phe1939Leu) c.9045T>A (p.Phe3015Leu) | |
8 | g.99853574T>C | CA462458095 | VPS13B | c.10260T>C (p.Phe3420=) n.10330T>C c.*5942T>C (n.*5942T>C) c.10185T>C (p.Phe3395=) c.10257T>C (p.Phe3419=) c.10182T>C (p.Phe3394=) c.9882T>C (p.Phe3294=) c.7146T>C (p.Phe2382=) c.6039T>C (p.Phe2013=) c.10065T>C (p.Phe3355=) c.5817T>C (p.Phe1939=) c.9045T>C (p.Phe3015=) | |
8 | g.99853574T>G | CA371780963 | VPS13B | c.10260T>G (p.Phe3420Leu) n.10330T>G c.*5942T>G (n.*5942T>G) c.10185T>G (p.Phe3395Leu) c.10257T>G (p.Phe3419Leu) c.10182T>G (p.Phe3394Leu) c.9882T>G (p.Phe3294Leu) c.7146T>G (p.Phe2382Leu) c.6039T>G (p.Phe2013Leu) c.10065T>G (p.Phe3355Leu) c.5817T>G (p.Phe1939Leu) c.9045T>G (p.Phe3015Leu) | |
8 | g.99853575C>A | CA371780965 | VPS13B | c.10261C>A (p.Leu3421Ile) n.10331C>A c.*5943C>A (n.*5943C>A) c.10186C>A (p.Leu3396Ile) c.10258C>A (p.Leu3420Ile) c.10183C>A (p.Leu3395Ile) c.9883C>A (p.Leu3295Ile) c.7147C>A (p.Leu2383Ile) c.6040C>A (p.Leu2014Ile) c.10066C>A (p.Leu3356Ile) c.5818C>A (p.Leu1940Ile) c.9046C>A (p.Leu3016Ile) | |
8 | g.99853575C>G | CA371780966 | VPS13B | c.10261C>G (p.Leu3421Val) n.10331C>G c.*5943C>G (n.*5943C>G) c.10186C>G (p.Leu3396Val) c.10258C>G (p.Leu3420Val) c.10183C>G (p.Leu3395Val) c.9883C>G (p.Leu3295Val) c.7147C>G (p.Leu2383Val) c.6040C>G (p.Leu2014Val) c.10066C>G (p.Leu3356Val) c.5818C>G (p.Leu1940Val) c.9046C>G (p.Leu3016Val) | |
8 | g.99853575C>T | CA371780964 | VPS13B | c.10261C>T (p.Leu3421Phe) n.10331C>T c.*5943C>T (n.*5943C>T) c.10186C>T (p.Leu3396Phe) c.10258C>T (p.Leu3420Phe) c.10183C>T (p.Leu3395Phe) c.9883C>T (p.Leu3295Phe) c.7147C>T (p.Leu2383Phe) c.6040C>T (p.Leu2014Phe) c.10066C>T (p.Leu3356Phe) c.5818C>T (p.Leu1940Phe) c.9046C>T (p.Leu3016Phe) | |
8 | g.99853576T>A | CA371780967 | VPS13B | c.10262T>A (p.Leu3421His) n.10332T>A c.*5944T>A (n.*5944T>A) c.10187T>A (p.Leu3396His) c.10259T>A (p.Leu3420His) c.10184T>A (p.Leu3395His) c.9884T>A (p.Leu3295His) c.7148T>A (p.Leu2383His) c.6041T>A (p.Leu2014His) c.10067T>A (p.Leu3356His) c.5819T>A (p.Leu1940His) c.9047T>A (p.Leu3016His) | |
8 | g.99853576T>C | CA371780968 | VPS13B | c.10262T>C (p.Leu3421Pro) n.10332T>C c.*5944T>C (n.*5944T>C) c.10187T>C (p.Leu3396Pro) c.10259T>C (p.Leu3420Pro) c.10184T>C (p.Leu3395Pro) c.9884T>C (p.Leu3295Pro) c.7148T>C (p.Leu2383Pro) c.6041T>C (p.Leu2014Pro) c.10067T>C (p.Leu3356Pro) c.5819T>C (p.Leu1940Pro) c.9047T>C (p.Leu3016Pro) | |
8 | g.99853576T>G | CA371780969 | VPS13B | c.10262T>G (p.Leu3421Arg) n.10332T>G c.*5944T>G (n.*5944T>G) c.10187T>G (p.Leu3396Arg) c.10259T>G (p.Leu3420Arg) c.10184T>G (p.Leu3395Arg) c.9884T>G (p.Leu3295Arg) c.7148T>G (p.Leu2383Arg) c.6041T>G (p.Leu2014Arg) c.10067T>G (p.Leu3356Arg) c.5819T>G (p.Leu1940Arg) c.9047T>G (p.Leu3016Arg) | |
8 | g.99853577C>A | CA462458096 | VPS13B | c.10263C>A (p.Leu3421=) n.10333C>A c.*5945C>A (n.*5945C>A) c.10188C>A (p.Leu3396=) c.10260C>A (p.Leu3420=) c.10185C>A (p.Leu3395=) c.9885C>A (p.Leu3295=) c.7149C>A (p.Leu2383=) c.6042C>A (p.Leu2014=) c.10068C>A (p.Leu3356=) c.5820C>A (p.Leu1940=) c.9048C>A (p.Leu3016=) | |
8 | g.99853577C>G | CA462458097 | VPS13B | c.10263C>G (p.Leu3421=) n.10333C>G c.*5945C>G (n.*5945C>G) c.10188C>G (p.Leu3396=) c.10260C>G (p.Leu3420=) c.10185C>G (p.Leu3395=) c.9885C>G (p.Leu3295=) c.7149C>G (p.Leu2383=) c.6042C>G (p.Leu2014=) c.10068C>G (p.Leu3356=) c.5820C>G (p.Leu1940=) c.9048C>G (p.Leu3016=) | |
8 | g.99853577C>T | CA462458098 | VPS13B | c.10263C>T (p.Leu3421=) n.10333C>T c.*5945C>T (n.*5945C>T) c.10188C>T (p.Leu3396=) c.10260C>T (p.Leu3420=) c.10185C>T (p.Leu3395=) c.9885C>T (p.Leu3295=) c.7149C>T (p.Leu2383=) c.6042C>T (p.Leu2014=) c.10068C>T (p.Leu3356=) c.5820C>T (p.Leu1940=) c.9048C>T (p.Leu3016=) | |
8 | g.99853578del | CA4824907 | VPS13B | c.10264del (p.Cys3422ValfsTer?) n.10334del c.*5946del (n.*5946del) c.10189del (p.Cys3397ValfsTer?) c.10261del (p.Cys3421ValfsTer?) c.10186del (p.Cys3396ValfsTer?) c.9886del (p.Cys3296ValfsTer?) c.7150del (p.Cys2384ValfsTer?) c.6043del (p.Cys2015ValfsTer?) c.10069del (p.Cys3357ValfsTer?) c.5821del (p.Cys1941ValfsTer?) c.9049del (p.Cys3017ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853578T>A | CA371780972 | VPS13B | c.10264T>A (p.Cys3422Ser) n.10334T>A c.*5946T>A (n.*5946T>A) c.10189T>A (p.Cys3397Ser) c.10261T>A (p.Cys3421Ser) c.10186T>A (p.Cys3396Ser) c.9886T>A (p.Cys3296Ser) c.7150T>A (p.Cys2384Ser) c.6043T>A (p.Cys2015Ser) c.10069T>A (p.Cys3357Ser) c.5821T>A (p.Cys1941Ser) c.9049T>A (p.Cys3017Ser) | |
8 | g.99853578T>C | CA371780971 | VPS13B | c.10264T>C (p.Cys3422Arg) n.10334T>C c.*5946T>C (n.*5946T>C) c.10189T>C (p.Cys3397Arg) c.10261T>C (p.Cys3421Arg) c.10186T>C (p.Cys3396Arg) c.9886T>C (p.Cys3296Arg) c.7150T>C (p.Cys2384Arg) c.6043T>C (p.Cys2015Arg) c.10069T>C (p.Cys3357Arg) c.5821T>C (p.Cys1941Arg) c.9049T>C (p.Cys3017Arg) | |
8 | g.99853578T>G | CA371780970 | VPS13B | c.10264T>G (p.Cys3422Gly) n.10334T>G c.*5946T>G (n.*5946T>G) c.10189T>G (p.Cys3397Gly) c.10261T>G (p.Cys3421Gly) c.10186T>G (p.Cys3396Gly) c.9886T>G (p.Cys3296Gly) c.7150T>G (p.Cys2384Gly) c.6043T>G (p.Cys2015Gly) c.10069T>G (p.Cys3357Gly) c.5821T>G (p.Cys1941Gly) c.9049T>G (p.Cys3017Gly) | |
8 | g.99853579del | CA371780975 | VPS13B | c.10265del (p.Cys3422LeufsTer?) n.10335del c.*5947del (n.*5947del) c.10190del (p.Cys3397LeufsTer?) c.10262del (p.Cys3421LeufsTer?) c.10187del (p.Cys3396LeufsTer?) c.9887del (p.Cys3296LeufsTer?) c.7151del (p.Cys2384LeufsTer?) c.6044del (p.Cys2015LeufsTer?) c.10070del (p.Cys3357LeufsTer?) c.5822del (p.Cys1941LeufsTer?) c.9050del (p.Cys3017LeufsTer?) | |
8 | g.99853579G>A | CA371780973 | VPS13B | c.10265G>A (p.Cys3422Tyr) n.10335G>A c.*5947G>A (n.*5947G>A) c.10190G>A (p.Cys3397Tyr) c.10262G>A (p.Cys3421Tyr) c.10187G>A (p.Cys3396Tyr) c.9887G>A (p.Cys3296Tyr) c.7151G>A (p.Cys2384Tyr) c.6044G>A (p.Cys2015Tyr) c.10070G>A (p.Cys3357Tyr) c.5822G>A (p.Cys1941Tyr) c.9050G>A (p.Cys3017Tyr) | gnomAD v4 |
8 | g.99853579G>C | CA182314082 | VPS13B | c.10265G>C (p.Cys3422Ser) n.10335G>C c.*5947G>C (n.*5947G>C) c.10190G>C (p.Cys3397Ser) c.10262G>C (p.Cys3421Ser) c.10187G>C (p.Cys3396Ser) c.9887G>C (p.Cys3296Ser) c.7151G>C (p.Cys2384Ser) c.6044G>C (p.Cys2015Ser) c.10070G>C (p.Cys3357Ser) c.5822G>C (p.Cys1941Ser) c.9050G>C (p.Cys3017Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853579G>T | CA371780974 | VPS13B | c.10265G>T (p.Cys3422Phe) n.10335G>T c.*5947G>T (n.*5947G>T) c.10190G>T (p.Cys3397Phe) c.10262G>T (p.Cys3421Phe) c.10187G>T (p.Cys3396Phe) c.9887G>T (p.Cys3296Phe) c.7151G>T (p.Cys2384Phe) c.6044G>T (p.Cys2015Phe) c.10070G>T (p.Cys3357Phe) c.5822G>T (p.Cys1941Phe) c.9050G>T (p.Cys3017Phe) | |
8 | g.99853579_99853580insGCGC | CA2565350650 | VPS13B | c.10265_10266insGCGC (p.Cys3422TrpfsTer21) n.10335_10336insGCGC c.*5947_*5948insGCGC (n.*5947_*5948insGCGC) c.10190_10191insGCGC (p.Cys3397TrpfsTer21) c.10262_10263insGCGC (p.Cys3421TrpfsTer21) c.10187_10188insGCGC (p.Cys3396TrpfsTer21) c.9887_9888insGCGC (p.Cys3296TrpfsTer21) c.7151_7152insGCGC (p.Cys2384TrpfsTer21) c.6044_6045insGCGC (p.Cys2015TrpfsTer21) c.10070_10071insGCGC (p.Cys3357TrpfsTer21) c.5822_5823insGCGC (p.Cys1941TrpfsTer21) c.9050_9051insGCGC (p.Cys3017TrpfsTer21) | |
8 | g.99853580T>A | CA371780976 | VPS13B | c.10266T>A (p.Cys3422Ter) n.10336T>A c.*5948T>A (n.*5948T>A) c.10191T>A (p.Cys3397Ter) c.10263T>A (p.Cys3421Ter) c.10188T>A (p.Cys3396Ter) c.9888T>A (p.Cys3296Ter) c.7152T>A (p.Cys2384Ter) c.6045T>A (p.Cys2015Ter) c.10071T>A (p.Cys3357Ter) c.5823T>A (p.Cys1941Ter) c.9051T>A (p.Cys3017Ter) | |
8 | g.99853580T>C | CA462458099 | VPS13B | c.10266T>C (p.Cys3422=) n.10336T>C c.*5948T>C (n.*5948T>C) c.10191T>C (p.Cys3397=) c.10263T>C (p.Cys3421=) c.10188T>C (p.Cys3396=) c.9888T>C (p.Cys3296=) c.7152T>C (p.Cys2384=) c.6045T>C (p.Cys2015=) c.10071T>C (p.Cys3357=) c.5823T>C (p.Cys1941=) c.9051T>C (p.Cys3017=) | |
8 | g.99853580T>G | CA371780977 | VPS13B | c.10266T>G (p.Cys3422Trp) n.10336T>G c.*5948T>G (n.*5948T>G) c.10191T>G (p.Cys3397Trp) c.10263T>G (p.Cys3421Trp) c.10188T>G (p.Cys3396Trp) c.9888T>G (p.Cys3296Trp) c.7152T>G (p.Cys2384Trp) c.6045T>G (p.Cys2015Trp) c.10071T>G (p.Cys3357Trp) c.5823T>G (p.Cys1941Trp) c.9051T>G (p.Cys3017Trp) | gnomAD v4 |
8 | g.99853580_99853581insCTA | CA2500557069 | VPS13B | c.10266_10267insCTA (p.Cys3422_Val3423insLeu) n.10336_10337insCTA c.*5948_*5949insCTA (n.*5948_*5949insCTA) c.10191_10192insCTA (p.Cys3397_Val3398insLeu) c.10263_10264insCTA (p.Cys3421_Val3422insLeu) c.10188_10189insCTA (p.Cys3396_Val3397insLeu) c.9888_9889insCTA (p.Cys3296_Val3297insLeu) c.7152_7153insCTA (p.Cys2384_Val2385insLeu) c.6045_6046insCTA (p.Cys2015_Val2016insLeu) c.10071_10072insCTA (p.Cys3357_Val3358insLeu) c.5823_5824insCTA (p.Cys1941_Val1942insLeu) c.9051_9052insCTA (p.Cys3017_Val3018insLeu) | |
8 | g.99853581G>A | CA371780980 | VPS13B | c.10267G>A (p.Val3423Met) n.10337G>A c.*5949G>A (n.*5949G>A) c.10192G>A (p.Val3398Met) c.10264G>A (p.Val3422Met) c.10189G>A (p.Val3397Met) c.9889G>A (p.Val3297Met) c.7153G>A (p.Val2385Met) c.6046G>A (p.Val2016Met) c.10072G>A (p.Val3358Met) c.5824G>A (p.Val1942Met) c.9052G>A (p.Val3018Met) | |
8 | g.99853581G>C | CA371780978 | VPS13B | c.10267G>C (p.Val3423Leu) n.10337G>C c.*5949G>C (n.*5949G>C) c.10192G>C (p.Val3398Leu) c.10264G>C (p.Val3422Leu) c.10189G>C (p.Val3397Leu) c.9889G>C (p.Val3297Leu) c.7153G>C (p.Val2385Leu) c.6046G>C (p.Val2016Leu) c.10072G>C (p.Val3358Leu) c.5824G>C (p.Val1942Leu) c.9052G>C (p.Val3018Leu) | |
8 | g.99853581G>T | CA371780979 | VPS13B | c.10267G>T (p.Val3423Leu) n.10337G>T c.*5949G>T (n.*5949G>T) c.10192G>T (p.Val3398Leu) c.10264G>T (p.Val3422Leu) c.10189G>T (p.Val3397Leu) c.9889G>T (p.Val3297Leu) c.7153G>T (p.Val2385Leu) c.6046G>T (p.Val2016Leu) c.10072G>T (p.Val3358Leu) c.5824G>T (p.Val1942Leu) c.9052G>T (p.Val3018Leu) | |
8 | g.99853582T>A | CA371780981 | VPS13B | c.10268T>A (p.Val3423Glu) n.10338T>A c.*5950T>A (n.*5950T>A) c.10193T>A (p.Val3398Glu) c.10265T>A (p.Val3422Glu) c.10190T>A (p.Val3397Glu) c.9890T>A (p.Val3297Glu) c.7154T>A (p.Val2385Glu) c.6047T>A (p.Val2016Glu) c.10073T>A (p.Val3358Glu) c.5825T>A (p.Val1942Glu) c.9053T>A (p.Val3018Glu) | |
8 | g.99853582T>C | CA182314099 | VPS13B | c.10268T>C (p.Val3423Ala) n.10338T>C c.*5950T>C (n.*5950T>C) c.10193T>C (p.Val3398Ala) c.10265T>C (p.Val3422Ala) c.10190T>C (p.Val3397Ala) c.9890T>C (p.Val3297Ala) c.7154T>C (p.Val2385Ala) c.6047T>C (p.Val2016Ala) c.10073T>C (p.Val3358Ala) c.5825T>C (p.Val1942Ala) c.9053T>C (p.Val3018Ala) | ClinVar dbSNP |
8 | g.99853582T>G | CA371780982 | VPS13B | c.10268T>G (p.Val3423Gly) n.10338T>G c.*5950T>G (n.*5950T>G) c.10193T>G (p.Val3398Gly) c.10265T>G (p.Val3422Gly) c.10190T>G (p.Val3397Gly) c.9890T>G (p.Val3297Gly) c.7154T>G (p.Val2385Gly) c.6047T>G (p.Val2016Gly) c.10073T>G (p.Val3358Gly) c.5825T>G (p.Val1942Gly) c.9053T>G (p.Val3018Gly) | |
8 | g.99853583G>A | CA462458100 | VPS13B | c.10269G>A (p.Val3423=) n.10339G>A c.*5951G>A (n.*5951G>A) c.10194G>A (p.Val3398=) c.10266G>A (p.Val3422=) c.10191G>A (p.Val3397=) c.9891G>A (p.Val3297=) c.7155G>A (p.Val2385=) c.6048G>A (p.Val2016=) c.10074G>A (p.Val3358=) c.5826G>A (p.Val1942=) c.9054G>A (p.Val3018=) | ClinVar dbSNP |
8 | g.99853583G>C | CA462458102 | VPS13B | c.10269G>C (p.Val3423=) n.10339G>C c.*5951G>C (n.*5951G>C) c.10194G>C (p.Val3398=) c.10266G>C (p.Val3422=) c.10191G>C (p.Val3397=) c.9891G>C (p.Val3297=) c.7155G>C (p.Val2385=) c.6048G>C (p.Val2016=) c.10074G>C (p.Val3358=) c.5826G>C (p.Val1942=) c.9054G>C (p.Val3018=) | |
8 | g.99853583G>T | CA462458101 | VPS13B | c.10269G>T (p.Val3423=) n.10339G>T c.*5951G>T (n.*5951G>T) c.10194G>T (p.Val3398=) c.10266G>T (p.Val3422=) c.10191G>T (p.Val3397=) c.9891G>T (p.Val3297=) c.7155G>T (p.Val2385=) c.6048G>T (p.Val2016=) c.10074G>T (p.Val3358=) c.5826G>T (p.Val1942=) c.9054G>T (p.Val3018=) | |
8 | g.99853584G>A | CA371780983 | VPS13B | c.10270G>A (p.Ala3424Thr) n.10340G>A c.*5952G>A (n.*5952G>A) c.10195G>A (p.Ala3399Thr) c.10267G>A (p.Ala3423Thr) c.10192G>A (p.Ala3398Thr) c.9892G>A (p.Ala3298Thr) c.7156G>A (p.Ala2386Thr) c.6049G>A (p.Ala2017Thr) c.10075G>A (p.Ala3359Thr) c.5827G>A (p.Ala1943Thr) c.9055G>A (p.Ala3019Thr) | |
8 | g.99853584G>C | CA371780984 | VPS13B | c.10270G>C (p.Ala3424Pro) n.10340G>C c.*5952G>C (n.*5952G>C) c.10195G>C (p.Ala3399Pro) c.10267G>C (p.Ala3423Pro) c.10192G>C (p.Ala3398Pro) c.9892G>C (p.Ala3298Pro) c.7156G>C (p.Ala2386Pro) c.6049G>C (p.Ala2017Pro) c.10075G>C (p.Ala3359Pro) c.5827G>C (p.Ala1943Pro) c.9055G>C (p.Ala3019Pro) | |
8 | g.99853584G>T | CA371780985 | VPS13B | c.10270G>T (p.Ala3424Ser) n.10340G>T c.*5952G>T (n.*5952G>T) c.10195G>T (p.Ala3399Ser) c.10267G>T (p.Ala3423Ser) c.10192G>T (p.Ala3398Ser) c.9892G>T (p.Ala3298Ser) c.7156G>T (p.Ala2386Ser) c.6049G>T (p.Ala2017Ser) c.10075G>T (p.Ala3359Ser) c.5827G>T (p.Ala1943Ser) c.9055G>T (p.Ala3019Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853585C>A | CA371780987 | VPS13B | c.10271C>A (p.Ala3424Asp) n.10341C>A c.*5953C>A (n.*5953C>A) c.10196C>A (p.Ala3399Asp) c.10268C>A (p.Ala3423Asp) c.10193C>A (p.Ala3398Asp) c.9893C>A (p.Ala3298Asp) c.7157C>A (p.Ala2386Asp) c.6050C>A (p.Ala2017Asp) c.10076C>A (p.Ala3359Asp) c.5828C>A (p.Ala1943Asp) c.9056C>A (p.Ala3019Asp) | gnomAD v4 |
8 | g.99853585C>G | CA371780986 | VPS13B | c.10271C>G (p.Ala3424Gly) n.10341C>G c.*5953C>G (n.*5953C>G) c.10196C>G (p.Ala3399Gly) c.10268C>G (p.Ala3423Gly) c.10193C>G (p.Ala3398Gly) c.9893C>G (p.Ala3298Gly) c.7157C>G (p.Ala2386Gly) c.6050C>G (p.Ala2017Gly) c.10076C>G (p.Ala3359Gly) c.5828C>G (p.Ala1943Gly) c.9056C>G (p.Ala3019Gly) | |
8 | g.99853585C>T | CA4824908 | VPS13B | c.10271C>T (p.Ala3424Val) n.10341C>T c.*5953C>T (n.*5953C>T) c.10196C>T (p.Ala3399Val) c.10268C>T (p.Ala3423Val) c.10193C>T (p.Ala3398Val) c.9893C>T (p.Ala3298Val) c.7157C>T (p.Ala2386Val) c.6050C>T (p.Ala2017Val) c.10076C>T (p.Ala3359Val) c.5828C>T (p.Ala1943Val) c.9056C>T (p.Ala3019Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853586C>A | CA462458103 | VPS13B | c.10272C>A (p.Ala3424=) n.10342C>A c.*5954C>A (n.*5954C>A) c.10197C>A (p.Ala3399=) c.10269C>A (p.Ala3423=) c.10194C>A (p.Ala3398=) c.9894C>A (p.Ala3298=) c.7158C>A (p.Ala2386=) c.6051C>A (p.Ala2017=) c.10077C>A (p.Ala3359=) c.5829C>A (p.Ala1943=) c.9057C>A (p.Ala3019=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853586C>G | CA462458104 | VPS13B | c.10272C>G (p.Ala3424=) n.10342C>G c.*5954C>G (n.*5954C>G) c.10197C>G (p.Ala3399=) c.10269C>G (p.Ala3423=) c.10194C>G (p.Ala3398=) c.9894C>G (p.Ala3298=) c.7158C>G (p.Ala2386=) c.6051C>G (p.Ala2017=) c.10077C>G (p.Ala3359=) c.5829C>G (p.Ala1943=) c.9057C>G (p.Ala3019=) | |
8 | g.99853586C>T | CA462458105 | VPS13B | c.10272C>T (p.Ala3424=) n.10342C>T c.*5954C>T (n.*5954C>T) c.10197C>T (p.Ala3399=) c.10269C>T (p.Ala3423=) c.10194C>T (p.Ala3398=) c.9894C>T (p.Ala3298=) c.7158C>T (p.Ala2386=) c.6051C>T (p.Ala2017=) c.10077C>T (p.Ala3359=) c.5829C>T (p.Ala1943=) c.9057C>T (p.Ala3019=) | ClinVar dbSNP gnomAD v4 |
8 | g.99853587C>A | CA371780988 | VPS13B | c.10273C>A (p.Pro3425Thr) n.10343C>A c.*5955C>A (n.*5955C>A) c.10198C>A (p.Pro3400Thr) c.10270C>A (p.Pro3424Thr) c.10195C>A (p.Pro3399Thr) c.9895C>A (p.Pro3299Thr) c.7159C>A (p.Pro2387Thr) c.6052C>A (p.Pro2018Thr) c.10078C>A (p.Pro3360Thr) c.5830C>A (p.Pro1944Thr) c.9058C>A (p.Pro3020Thr) | |
8 | g.99853587C>G | CA371780989 | VPS13B | c.10273C>G (p.Pro3425Ala) n.10343C>G c.*5955C>G (n.*5955C>G) c.10198C>G (p.Pro3400Ala) c.10270C>G (p.Pro3424Ala) c.10195C>G (p.Pro3399Ala) c.9895C>G (p.Pro3299Ala) c.7159C>G (p.Pro2387Ala) c.6052C>G (p.Pro2018Ala) c.10078C>G (p.Pro3360Ala) c.5830C>G (p.Pro1944Ala) c.9058C>G (p.Pro3020Ala) | |
8 | g.99853587C>T | CA371780990 | VPS13B | c.10273C>T (p.Pro3425Ser) n.10343C>T c.*5955C>T (n.*5955C>T) c.10198C>T (p.Pro3400Ser) c.10270C>T (p.Pro3424Ser) c.10195C>T (p.Pro3399Ser) c.9895C>T (p.Pro3299Ser) c.7159C>T (p.Pro2387Ser) c.6052C>T (p.Pro2018Ser) c.10078C>T (p.Pro3360Ser) c.5830C>T (p.Pro1944Ser) c.9058C>T (p.Pro3020Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.99853588C>A | CA371780991 | VPS13B | c.10274C>A (p.Pro3425Gln) n.10344C>A c.*5956C>A (n.*5956C>A) c.10199C>A (p.Pro3400Gln) c.10271C>A (p.Pro3424Gln) c.10196C>A (p.Pro3399Gln) c.9896C>A (p.Pro3299Gln) c.7160C>A (p.Pro2387Gln) c.6053C>A (p.Pro2018Gln) c.10079C>A (p.Pro3360Gln) c.5831C>A (p.Pro1944Gln) c.9059C>A (p.Pro3020Gln) | |
8 | g.99853588C>G | CA182314107 | VPS13B | c.10274C>G (p.Pro3425Arg) n.10344C>G c.*5956C>G (n.*5956C>G) c.10199C>G (p.Pro3400Arg) c.10271C>G (p.Pro3424Arg) c.10196C>G (p.Pro3399Arg) c.9896C>G (p.Pro3299Arg) c.7160C>G (p.Pro2387Arg) c.6053C>G (p.Pro2018Arg) c.10079C>G (p.Pro3360Arg) c.5831C>G (p.Pro1944Arg) c.9059C>G (p.Pro3020Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.99853588C>T | CA231629 | VPS13B | c.10274C>T (p.Pro3425Leu) n.10344C>T c.*5956C>T (n.*5956C>T) c.10199C>T (p.Pro3400Leu) c.10271C>T (p.Pro3424Leu) c.10196C>T (p.Pro3399Leu) c.9896C>T (p.Pro3299Leu) c.7160C>T (p.Pro2387Leu) c.6053C>T (p.Pro2018Leu) c.10079C>T (p.Pro3360Leu) c.5831C>T (p.Pro1944Leu) c.9059C>T (p.Pro3020Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853589G>A | CA4824909 | VPS13B | c.10275G>A (p.Pro3425=) n.10345G>A c.*5957G>A (n.*5957G>A) c.10200G>A (p.Pro3400=) c.10272G>A (p.Pro3424=) c.10197G>A (p.Pro3399=) c.9897G>A (p.Pro3299=) c.7161G>A (p.Pro2387=) c.6054G>A (p.Pro2018=) c.10080G>A (p.Pro3360=) c.5832G>A (p.Pro1944=) c.9060G>A (p.Pro3020=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853589G>C | CA462458106 | VPS13B | c.10275G>C (p.Pro3425=) n.10345G>C c.*5957G>C (n.*5957G>C) c.10200G>C (p.Pro3400=) c.10272G>C (p.Pro3424=) c.10197G>C (p.Pro3399=) c.9897G>C (p.Pro3299=) c.7161G>C (p.Pro2387=) c.6054G>C (p.Pro2018=) c.10080G>C (p.Pro3360=) c.5832G>C (p.Pro1944=) c.9060G>C (p.Pro3020=) | gnomAD v4 |
8 | g.99853589G>T | CA462458107 | VPS13B | c.10275G>T (p.Pro3425=) n.10345G>T c.*5957G>T (n.*5957G>T) c.10200G>T (p.Pro3400=) c.10272G>T (p.Pro3424=) c.10197G>T (p.Pro3399=) c.9897G>T (p.Pro3299=) c.7161G>T (p.Pro2387=) c.6054G>T (p.Pro2018=) c.10080G>T (p.Pro3360=) c.5832G>T (p.Pro1944=) c.9060G>T (p.Pro3020=) | dbSNP gnomAD v4 |
8 | g.99853591dup | CA2688071965 | VPS13B | c.10277dup (p.Ala3427SerfsTer15) n.10347dup c.*5959dup (n.*5959dup) c.10202dup (p.Ala3402SerfsTer15) c.10274dup (p.Ala3426SerfsTer15) c.10199dup (p.Ala3401SerfsTer15) c.9899dup (p.Ala3301SerfsTer15) c.7163dup (p.Ala2389SerfsTer15) c.6056dup (p.Ala2020SerfsTer15) c.10082dup (p.Ala3362SerfsTer15) c.5834dup (p.Ala1946SerfsTer15) c.9062dup (p.Ala3022SerfsTer15) | gnomAD v4 |
8 | g.99853591del | CA2688071966 | VPS13B | c.10277del (p.Gly3426GlufsTer29) n.10347del c.*5959del (n.*5959del) c.10202del (p.Gly3401GlufsTer29) c.10274del (p.Gly3425GlufsTer29) c.10199del (p.Gly3400GlufsTer29) c.9899del (p.Gly3300GlufsTer29) c.7163del (p.Gly2388GlufsTer29) c.6056del (p.Gly2019GlufsTer29) c.10082del (p.Gly3361GlufsTer29) c.5834del (p.Gly1945GlufsTer29) c.9062del (p.Gly3021GlufsTer29) | gnomAD v4 |
8 | g.99853590G>A | CA371780992 | VPS13B | c.10276G>A (p.Gly3426Arg) n.10346G>A c.*5958G>A (n.*5958G>A) c.10201G>A (p.Gly3401Arg) c.10273G>A (p.Gly3425Arg) c.10198G>A (p.Gly3400Arg) c.9898G>A (p.Gly3300Arg) c.7162G>A (p.Gly2388Arg) c.6055G>A (p.Gly2019Arg) c.10081G>A (p.Gly3361Arg) c.5833G>A (p.Gly1945Arg) c.9061G>A (p.Gly3021Arg) | |
8 | g.99853590G>C | CA371780994 | VPS13B | c.10276G>C (p.Gly3426Arg) n.10346G>C c.*5958G>C (n.*5958G>C) c.10201G>C (p.Gly3401Arg) c.10273G>C (p.Gly3425Arg) c.10198G>C (p.Gly3400Arg) c.9898G>C (p.Gly3300Arg) c.7162G>C (p.Gly2388Arg) c.6055G>C (p.Gly2019Arg) c.10081G>C (p.Gly3361Arg) c.5833G>C (p.Gly1945Arg) c.9061G>C (p.Gly3021Arg) | |
8 | g.99853590G>T | CA371780993 | VPS13B | c.10276G>T (p.Gly3426Ter) n.10346G>T c.*5958G>T (n.*5958G>T) c.10201G>T (p.Gly3401Ter) c.10273G>T (p.Gly3425Ter) c.10198G>T (p.Gly3400Ter) c.9898G>T (p.Gly3300Ter) c.7162G>T (p.Gly2388Ter) c.6055G>T (p.Gly2019Ter) c.10081G>T (p.Gly3361Ter) c.5833G>T (p.Gly1945Ter) c.9061G>T (p.Gly3021Ter) | |
8 | g.99853591G>A | CA371780995 | VPS13B | c.10277G>A (p.Gly3426Glu) n.10347G>A c.*5959G>A (n.*5959G>A) c.10202G>A (p.Gly3401Glu) c.10274G>A (p.Gly3425Glu) c.10199G>A (p.Gly3400Glu) c.9899G>A (p.Gly3300Glu) c.7163G>A (p.Gly2388Glu) c.6056G>A (p.Gly2019Glu) c.10082G>A (p.Gly3361Glu) c.5834G>A (p.Gly1945Glu) c.9062G>A (p.Gly3021Glu) | |
8 | g.99853591G>C | CA371780996 | VPS13B | c.10277G>C (p.Gly3426Ala) n.10347G>C c.*5959G>C (n.*5959G>C) c.10202G>C (p.Gly3401Ala) c.10274G>C (p.Gly3425Ala) c.10199G>C (p.Gly3400Ala) c.9899G>C (p.Gly3300Ala) c.7163G>C (p.Gly2388Ala) c.6056G>C (p.Gly2019Ala) c.10082G>C (p.Gly3361Ala) c.5834G>C (p.Gly1945Ala) c.9062G>C (p.Gly3021Ala) | |
8 | g.99853591G>T | CA371780997 | VPS13B | c.10277G>T (p.Gly3426Val) n.10347G>T c.*5959G>T (n.*5959G>T) c.10202G>T (p.Gly3401Val) c.10274G>T (p.Gly3425Val) c.10199G>T (p.Gly3400Val) c.9899G>T (p.Gly3300Val) c.7163G>T (p.Gly2388Val) c.6056G>T (p.Gly2019Val) c.10082G>T (p.Gly3361Val) c.5834G>T (p.Gly1945Val) c.9062G>T (p.Gly3021Val) | |
8 | g.99853592A>C | CA462458108 | VPS13B | c.10278A>C (p.Gly3426=) n.10348A>C c.*5960A>C (n.*5960A>C) c.10203A>C (p.Gly3401=) c.10275A>C (p.Gly3425=) c.10200A>C (p.Gly3400=) c.9900A>C (p.Gly3300=) c.7164A>C (p.Gly2388=) c.6057A>C (p.Gly2019=) c.10083A>C (p.Gly3361=) c.5835A>C (p.Gly1945=) c.9063A>C (p.Gly3021=) | |
8 | g.99853592A>G | CA462458109 | VPS13B | c.10278A>G (p.Gly3426=) n.10348A>G c.*5960A>G (n.*5960A>G) c.10203A>G (p.Gly3401=) c.10275A>G (p.Gly3425=) c.10200A>G (p.Gly3400=) c.9900A>G (p.Gly3300=) c.7164A>G (p.Gly2388=) c.6057A>G (p.Gly2019=) c.10083A>G (p.Gly3361=) c.5835A>G (p.Gly1945=) c.9063A>G (p.Gly3021=) | gnomAD v4 |
8 | g.99853592A>T | CA462458110 | VPS13B | c.10278A>T (p.Gly3426=) n.10348A>T c.*5960A>T (n.*5960A>T) c.10203A>T (p.Gly3401=) c.10275A>T (p.Gly3425=) c.10200A>T (p.Gly3400=) c.9900A>T (p.Gly3300=) c.7164A>T (p.Gly2388=) c.6057A>T (p.Gly2019=) c.10083A>T (p.Gly3361=) c.5835A>T (p.Gly1945=) c.9063A>T (p.Gly3021=) | ClinVar |
8 | g.99853593G>A | CA371780998 | VPS13B | c.10279G>A (p.Ala3427Thr) n.10349G>A c.*5961G>A (n.*5961G>A) c.10204G>A (p.Ala3402Thr) c.10276G>A (p.Ala3426Thr) c.10201G>A (p.Ala3401Thr) c.9901G>A (p.Ala3301Thr) c.7165G>A (p.Ala2389Thr) c.6058G>A (p.Ala2020Thr) c.10084G>A (p.Ala3362Thr) c.5836G>A (p.Ala1946Thr) c.9064G>A (p.Ala3022Thr) | |
8 | g.99853593G>C | CA371780999 | VPS13B | c.10279G>C (p.Ala3427Pro) n.10349G>C c.*5961G>C (n.*5961G>C) c.10204G>C (p.Ala3402Pro) c.10276G>C (p.Ala3426Pro) c.10201G>C (p.Ala3401Pro) c.9901G>C (p.Ala3301Pro) c.7165G>C (p.Ala2389Pro) c.6058G>C (p.Ala2020Pro) c.10084G>C (p.Ala3362Pro) c.5836G>C (p.Ala1946Pro) c.9064G>C (p.Ala3022Pro) | |
8 | g.99853593G>T | CA371781001 | VPS13B | c.10279G>T (p.Ala3427Ser) n.10349G>T c.*5961G>T (n.*5961G>T) c.10204G>T (p.Ala3402Ser) c.10276G>T (p.Ala3426Ser) c.10201G>T (p.Ala3401Ser) c.9901G>T (p.Ala3301Ser) c.7165G>T (p.Ala2389Ser) c.6058G>T (p.Ala2020Ser) c.10084G>T (p.Ala3362Ser) c.5836G>T (p.Ala1946Ser) c.9064G>T (p.Ala3022Ser) | |
8 | g.99853594C>A | CA371781003 | VPS13B | c.10280C>A (p.Ala3427Asp) n.10350C>A c.*5962C>A (n.*5962C>A) c.10205C>A (p.Ala3402Asp) c.10277C>A (p.Ala3426Asp) c.10202C>A (p.Ala3401Asp) c.9902C>A (p.Ala3301Asp) c.7166C>A (p.Ala2389Asp) c.6059C>A (p.Ala2020Asp) c.10085C>A (p.Ala3362Asp) c.5837C>A (p.Ala1946Asp) c.9065C>A (p.Ala3022Asp) | |
8 | g.99853594C>G | CA371781004 | VPS13B | c.10280C>G (p.Ala3427Gly) n.10350C>G c.*5962C>G (n.*5962C>G) c.10205C>G (p.Ala3402Gly) c.10277C>G (p.Ala3426Gly) c.10202C>G (p.Ala3401Gly) c.9902C>G (p.Ala3301Gly) c.7166C>G (p.Ala2389Gly) c.6059C>G (p.Ala2020Gly) c.10085C>G (p.Ala3362Gly) c.5837C>G (p.Ala1946Gly) c.9065C>G (p.Ala3022Gly) | |
8 | g.99853594C>T | CA371781005 | VPS13B | c.10280C>T (p.Ala3427Val) n.10350C>T c.*5962C>T (n.*5962C>T) c.10205C>T (p.Ala3402Val) c.10277C>T (p.Ala3426Val) c.10202C>T (p.Ala3401Val) c.9902C>T (p.Ala3301Val) c.7166C>T (p.Ala2389Val) c.6059C>T (p.Ala2020Val) c.10085C>T (p.Ala3362Val) c.5837C>T (p.Ala1946Val) c.9065C>T (p.Ala3022Val) | |
8 | g.99853595T>A | CA462458111 | VPS13B | c.10281T>A (p.Ala3427=) n.10351T>A c.*5963T>A (n.*5963T>A) c.10206T>A (p.Ala3402=) c.10278T>A (p.Ala3426=) c.10203T>A (p.Ala3401=) c.9903T>A (p.Ala3301=) c.7167T>A (p.Ala2389=) c.6060T>A (p.Ala2020=) c.10086T>A (p.Ala3362=) c.5838T>A (p.Ala1946=) c.9066T>A (p.Ala3022=) | |
8 | g.99853595T>C | CA462458112 | VPS13B | c.10281T>C (p.Ala3427=) n.10351T>C c.*5963T>C (n.*5963T>C) c.10206T>C (p.Ala3402=) c.10278T>C (p.Ala3426=) c.10203T>C (p.Ala3401=) c.9903T>C (p.Ala3301=) c.7167T>C (p.Ala2389=) c.6060T>C (p.Ala2020=) c.10086T>C (p.Ala3362=) c.5838T>C (p.Ala1946=) c.9066T>C (p.Ala3022=) | |
8 | g.99853595T>G | CA462458113 | VPS13B | c.10281T>G (p.Ala3427=) n.10351T>G c.*5963T>G (n.*5963T>G) c.10206T>G (p.Ala3402=) c.10278T>G (p.Ala3426=) c.10203T>G (p.Ala3401=) c.9903T>G (p.Ala3301=) c.7167T>G (p.Ala2389=) c.6060T>G (p.Ala2020=) c.10086T>G (p.Ala3362=) c.5838T>G (p.Ala1946=) c.9066T>G (p.Ala3022=) | |
8 | g.99853596G>A | CA371781006 | VPS13B | c.10282G>A (p.Gly3428Ser) n.10352G>A c.*5964G>A (n.*5964G>A) c.10207G>A (p.Gly3403Ser) c.10279G>A (p.Gly3427Ser) c.10204G>A (p.Gly3402Ser) c.9904G>A (p.Gly3302Ser) c.7168G>A (p.Gly2390Ser) c.6061G>A (p.Gly2021Ser) c.10087G>A (p.Gly3363Ser) c.5839G>A (p.Gly1947Ser) c.9067G>A (p.Gly3023Ser) | |
8 | g.99853596G>C | CA371781007 | VPS13B | c.10282G>C (p.Gly3428Arg) n.10352G>C c.*5964G>C (n.*5964G>C) c.10207G>C (p.Gly3403Arg) c.10279G>C (p.Gly3427Arg) c.10204G>C (p.Gly3402Arg) c.9904G>C (p.Gly3302Arg) c.7168G>C (p.Gly2390Arg) c.6061G>C (p.Gly2021Arg) c.10087G>C (p.Gly3363Arg) c.5839G>C (p.Gly1947Arg) c.9067G>C (p.Gly3023Arg) | |
8 | g.99853596G>T | CA371781008 | VPS13B | c.10282G>T (p.Gly3428Cys) n.10352G>T c.*5964G>T (n.*5964G>T) c.10207G>T (p.Gly3403Cys) c.10279G>T (p.Gly3427Cys) c.10204G>T (p.Gly3402Cys) c.9904G>T (p.Gly3302Cys) c.7168G>T (p.Gly2390Cys) c.6061G>T (p.Gly2021Cys) c.10087G>T (p.Gly3363Cys) c.5839G>T (p.Gly1947Cys) c.9067G>T (p.Gly3023Cys) | gnomAD v4 |
8 | g.99853597G>A | CA371781009 | VPS13B | c.10283G>A (p.Gly3428Asp) n.10353G>A c.*5965G>A (n.*5965G>A) c.10208G>A (p.Gly3403Asp) c.10280G>A (p.Gly3427Asp) c.10205G>A (p.Gly3402Asp) c.9905G>A (p.Gly3302Asp) c.7169G>A (p.Gly2390Asp) c.6062G>A (p.Gly2021Asp) c.10088G>A (p.Gly3363Asp) c.5840G>A (p.Gly1947Asp) c.9068G>A (p.Gly3023Asp) | ClinVar |
8 | g.99853597G>C | CA371781011 | VPS13B | c.10283G>C (p.Gly3428Ala) n.10353G>C c.*5965G>C (n.*5965G>C) c.10208G>C (p.Gly3403Ala) c.10280G>C (p.Gly3427Ala) c.10205G>C (p.Gly3402Ala) c.9905G>C (p.Gly3302Ala) c.7169G>C (p.Gly2390Ala) c.6062G>C (p.Gly2021Ala) c.10088G>C (p.Gly3363Ala) c.5840G>C (p.Gly1947Ala) c.9068G>C (p.Gly3023Ala) | |
8 | g.99853597G>T | CA371781010 | VPS13B | c.10283G>T (p.Gly3428Val) n.10353G>T c.*5965G>T (n.*5965G>T) c.10208G>T (p.Gly3403Val) c.10280G>T (p.Gly3427Val) c.10205G>T (p.Gly3402Val) c.9905G>T (p.Gly3302Val) c.7169G>T (p.Gly2390Val) c.6062G>T (p.Gly2021Val) c.10088G>T (p.Gly3363Val) c.5840G>T (p.Gly1947Val) c.9068G>T (p.Gly3023Val) | |
8 | g.99853598T>A | CA462458114 | VPS13B | c.10284T>A (p.Gly3428=) n.10354T>A c.*5966T>A (n.*5966T>A) c.10209T>A (p.Gly3403=) c.10281T>A (p.Gly3427=) c.10206T>A (p.Gly3402=) c.9906T>A (p.Gly3302=) c.7170T>A (p.Gly2390=) c.6063T>A (p.Gly2021=) c.10089T>A (p.Gly3363=) c.5841T>A (p.Gly1947=) c.9069T>A (p.Gly3023=) | |
8 | g.99853598T>C | CA462458115 | VPS13B | c.10284T>C (p.Gly3428=) n.10354T>C c.*5966T>C (n.*5966T>C) c.10209T>C (p.Gly3403=) c.10281T>C (p.Gly3427=) c.10206T>C (p.Gly3402=) c.9906T>C (p.Gly3302=) c.7170T>C (p.Gly2390=) c.6063T>C (p.Gly2021=) c.10089T>C (p.Gly3363=) c.5841T>C (p.Gly1947=) c.9069T>C (p.Gly3023=) | gnomAD v4 |
8 | g.99853598T>G | CA462458116 | VPS13B | c.10284T>G (p.Gly3428=) n.10354T>G c.*5966T>G (n.*5966T>G) c.10209T>G (p.Gly3403=) c.10281T>G (p.Gly3427=) c.10206T>G (p.Gly3402=) c.9906T>G (p.Gly3302=) c.7170T>G (p.Gly2390=) c.6063T>G (p.Gly2021=) c.10089T>G (p.Gly3363=) c.5841T>G (p.Gly1947=) c.9069T>G (p.Gly3023=) | |
8 | g.99853598dup | CA2580079335 | VPS13B | c.10284dup (p.Pro3429SerfsTer13) n.10354dup c.*5966dup (n.*5966dup) c.10209dup (p.Pro3404SerfsTer13) c.10281dup (p.Pro3428SerfsTer13) c.10206dup (p.Pro3403SerfsTer13) c.9906dup (p.Pro3303SerfsTer13) c.7170dup (p.Pro2391SerfsTer13) c.6063dup (p.Pro2022SerfsTer13) c.10089dup (p.Pro3364SerfsTer13) c.5841dup (p.Pro1948SerfsTer13) c.9069dup (p.Pro3024SerfsTer13) | ClinVar |
8 | g.99853599C>A | CA371781012 | VPS13B | c.10285C>A (p.Pro3429Thr) n.10355C>A c.*5967C>A (n.*5967C>A) c.10210C>A (p.Pro3404Thr) c.10282C>A (p.Pro3428Thr) c.10207C>A (p.Pro3403Thr) c.9907C>A (p.Pro3303Thr) c.7171C>A (p.Pro2391Thr) c.6064C>A (p.Pro2022Thr) c.10090C>A (p.Pro3364Thr) c.5842C>A (p.Pro1948Thr) c.9070C>A (p.Pro3024Thr) | |
8 | g.99853599C>G | CA371781013 | VPS13B | c.10285C>G (p.Pro3429Ala) n.10355C>G c.*5967C>G (n.*5967C>G) c.10210C>G (p.Pro3404Ala) c.10282C>G (p.Pro3428Ala) c.10207C>G (p.Pro3403Ala) c.9907C>G (p.Pro3303Ala) c.7171C>G (p.Pro2391Ala) c.6064C>G (p.Pro2022Ala) c.10090C>G (p.Pro3364Ala) c.5842C>G (p.Pro1948Ala) c.9070C>G (p.Pro3024Ala) | |
8 | g.99853599C>T | CA371781014 | VPS13B | c.10285C>T (p.Pro3429Ser) n.10355C>T c.*5967C>T (n.*5967C>T) c.10210C>T (p.Pro3404Ser) c.10282C>T (p.Pro3428Ser) c.10207C>T (p.Pro3403Ser) c.9907C>T (p.Pro3303Ser) c.7171C>T (p.Pro2391Ser) c.6064C>T (p.Pro2022Ser) c.10090C>T (p.Pro3364Ser) c.5842C>T (p.Pro1948Ser) c.9070C>T (p.Pro3024Ser) | gnomAD v4 |
8 | g.99853600C>A | CA371781015 | VPS13B | c.10286C>A (p.Pro3429His) n.10356C>A c.*5968C>A (n.*5968C>A) c.10211C>A (p.Pro3404His) c.10283C>A (p.Pro3428His) c.10208C>A (p.Pro3403His) c.9908C>A (p.Pro3303His) c.7172C>A (p.Pro2391His) c.6065C>A (p.Pro2022His) c.10091C>A (p.Pro3364His) c.5843C>A (p.Pro1948His) c.9071C>A (p.Pro3024His) | |
8 | g.99853600C>G | CA371781016 | VPS13B | c.10286C>G (p.Pro3429Arg) n.10356C>G c.*5968C>G (n.*5968C>G) c.10211C>G (p.Pro3404Arg) c.10283C>G (p.Pro3428Arg) c.10208C>G (p.Pro3403Arg) c.9908C>G (p.Pro3303Arg) c.7172C>G (p.Pro2391Arg) c.6065C>G (p.Pro2022Arg) c.10091C>G (p.Pro3364Arg) c.5843C>G (p.Pro1948Arg) c.9071C>G (p.Pro3024Arg) | |
8 | g.99853600C>T | CA371781017 | VPS13B | c.10286C>T (p.Pro3429Leu) n.10356C>T c.*5968C>T (n.*5968C>T) c.10211C>T (p.Pro3404Leu) c.10283C>T (p.Pro3428Leu) c.10208C>T (p.Pro3403Leu) c.9908C>T (p.Pro3303Leu) c.7172C>T (p.Pro2391Leu) c.6065C>T (p.Pro2022Leu) c.10091C>T (p.Pro3364Leu) c.5843C>T (p.Pro1948Leu) c.9071C>T (p.Pro3024Leu) | COSMIC COSMIC |
8 | g.99853601C>A | CA462458117 | VPS13B | c.10287C>A (p.Pro3429=) n.10357C>A c.*5969C>A (n.*5969C>A) c.10212C>A (p.Pro3404=) c.10284C>A (p.Pro3428=) c.10209C>A (p.Pro3403=) c.9909C>A (p.Pro3303=) c.7173C>A (p.Pro2391=) c.6066C>A (p.Pro2022=) c.10092C>A (p.Pro3364=) c.5844C>A (p.Pro1948=) c.9072C>A (p.Pro3024=) | |
8 | g.99853601C>G | CA462458118 | VPS13B | c.10287C>G (p.Pro3429=) n.10357C>G c.*5969C>G (n.*5969C>G) c.10212C>G (p.Pro3404=) c.10284C>G (p.Pro3428=) c.10209C>G (p.Pro3403=) c.9909C>G (p.Pro3303=) c.7173C>G (p.Pro2391=) c.6066C>G (p.Pro2022=) c.10092C>G (p.Pro3364=) c.5844C>G (p.Pro1948=) c.9072C>G (p.Pro3024=) | |
8 | g.99853601C>T | CA462458119 | VPS13B | c.10287C>T (p.Pro3429=) n.10357C>T c.*5969C>T (n.*5969C>T) c.10212C>T (p.Pro3404=) c.10284C>T (p.Pro3428=) c.10209C>T (p.Pro3403=) c.9909C>T (p.Pro3303=) c.7173C>T (p.Pro2391=) c.6066C>T (p.Pro2022=) c.10092C>T (p.Pro3364=) c.5844C>T (p.Pro1948=) c.9072C>T (p.Pro3024=) | |
8 | g.99853604_99853605insTCCTC | CA2740966430 | VPS13B | c.10290_10291insTCCTC (p.Pro3431SerfsTer26) n.10360_10361insTCCTC c.*5972_*5973insTCCTC (n.*5972_*5973insTCCTC) c.10215_10216insTCCTC (p.Pro3406SerfsTer26) c.10287_10288insTCCTC (p.Pro3430SerfsTer26) c.10212_10213insTCCTC (p.Pro3405SerfsTer26) c.9912_9913insTCCTC (p.Pro3305SerfsTer26) c.7176_7177insTCCTC (p.Pro2393SerfsTer26) c.6069_6070insTCCTC (p.Pro2024SerfsTer26) c.10095_10096insTCCTC (p.Pro3366SerfsTer26) c.5847_5848insTCCTC (p.Pro1950SerfsTer26) c.9075_9076insTCCTC (p.Pro3026SerfsTer26) | |
8 | g.99853602C>A | CA371781018 | VPS13B | c.10288C>A (p.Leu3430Ile) n.10358C>A c.*5970C>A (n.*5970C>A) c.10213C>A (p.Leu3405Ile) c.10285C>A (p.Leu3429Ile) c.10210C>A (p.Leu3404Ile) c.9910C>A (p.Leu3304Ile) c.7174C>A (p.Leu2392Ile) c.6067C>A (p.Leu2023Ile) c.10093C>A (p.Leu3365Ile) c.5845C>A (p.Leu1949Ile) c.9073C>A (p.Leu3025Ile) | |
8 | g.99853602C>G | CA371781019 | VPS13B | c.10288C>G (p.Leu3430Val) n.10358C>G c.*5970C>G (n.*5970C>G) c.10213C>G (p.Leu3405Val) c.10285C>G (p.Leu3429Val) c.10210C>G (p.Leu3404Val) c.9910C>G (p.Leu3304Val) c.7174C>G (p.Leu2392Val) c.6067C>G (p.Leu2023Val) c.10093C>G (p.Leu3365Val) c.5845C>G (p.Leu1949Val) c.9073C>G (p.Leu3025Val) | |
8 | g.99853602C>T | CA371781020 | VPS13B | c.10288C>T (p.Leu3430Phe) n.10358C>T c.*5970C>T (n.*5970C>T) c.10213C>T (p.Leu3405Phe) c.10285C>T (p.Leu3429Phe) c.10210C>T (p.Leu3404Phe) c.9910C>T (p.Leu3304Phe) c.7174C>T (p.Leu2392Phe) c.6067C>T (p.Leu2023Phe) c.10093C>T (p.Leu3365Phe) c.5845C>T (p.Leu1949Phe) c.9073C>T (p.Leu3025Phe) | |
8 | g.99853603T>A | CA371781021 | VPS13B | c.10289T>A (p.Leu3430His) n.10359T>A c.*5971T>A (n.*5971T>A) c.10214T>A (p.Leu3405His) c.10286T>A (p.Leu3429His) c.10211T>A (p.Leu3404His) c.9911T>A (p.Leu3304His) c.7175T>A (p.Leu2392His) c.6068T>A (p.Leu2023His) c.10094T>A (p.Leu3365His) c.5846T>A (p.Leu1949His) c.9074T>A (p.Leu3025His) | |
8 | g.99853603T>C | CA371781022 | VPS13B | c.10289T>C (p.Leu3430Pro) n.10359T>C c.*5971T>C (n.*5971T>C) c.10214T>C (p.Leu3405Pro) c.10286T>C (p.Leu3429Pro) c.10211T>C (p.Leu3404Pro) c.9911T>C (p.Leu3304Pro) c.7175T>C (p.Leu2392Pro) c.6068T>C (p.Leu2023Pro) c.10094T>C (p.Leu3365Pro) c.5846T>C (p.Leu1949Pro) c.9074T>C (p.Leu3025Pro) | gnomAD v4 |
8 | g.99853603T>G | CA371781023 | VPS13B | c.10289T>G (p.Leu3430Arg) n.10359T>G c.*5971T>G (n.*5971T>G) c.10214T>G (p.Leu3405Arg) c.10286T>G (p.Leu3429Arg) c.10211T>G (p.Leu3404Arg) c.9911T>G (p.Leu3304Arg) c.7175T>G (p.Leu2392Arg) c.6068T>G (p.Leu2023Arg) c.10094T>G (p.Leu3365Arg) c.5846T>G (p.Leu1949Arg) c.9074T>G (p.Leu3025Arg) | |
8 | g.99853604C>A | CA462458120 | VPS13B | c.10290C>A (p.Leu3430=) n.10360C>A c.*5972C>A (n.*5972C>A) c.10215C>A (p.Leu3405=) c.10287C>A (p.Leu3429=) c.10212C>A (p.Leu3404=) c.9912C>A (p.Leu3304=) c.7176C>A (p.Leu2392=) c.6069C>A (p.Leu2023=) c.10095C>A (p.Leu3365=) c.5847C>A (p.Leu1949=) c.9075C>A (p.Leu3025=) | |
8 | g.99853604C>G | CA462458121 | VPS13B | c.10290C>G (p.Leu3430=) n.10360C>G c.*5972C>G (n.*5972C>G) c.10215C>G (p.Leu3405=) c.10287C>G (p.Leu3429=) c.10212C>G (p.Leu3404=) c.9912C>G (p.Leu3304=) c.7176C>G (p.Leu2392=) c.6069C>G (p.Leu2023=) c.10095C>G (p.Leu3365=) c.5847C>G (p.Leu1949=) c.9075C>G (p.Leu3025=) | |
8 | g.99853604C>T | CA462458122 | VPS13B | c.10290C>T (p.Leu3430=) n.10360C>T c.*5972C>T (n.*5972C>T) c.10215C>T (p.Leu3405=) c.10287C>T (p.Leu3429=) c.10212C>T (p.Leu3404=) c.9912C>T (p.Leu3304=) c.7176C>T (p.Leu2392=) c.6069C>T (p.Leu2023=) c.10095C>T (p.Leu3365=) c.5847C>T (p.Leu1949=) c.9075C>T (p.Leu3025=) | ClinVar |
8 | g.99853605C>A | CA371781027 | VPS13B | c.10291C>A (p.Pro3431Thr) n.10361C>A c.*5973C>A (n.*5973C>A) c.10216C>A (p.Pro3406Thr) c.10288C>A (p.Pro3430Thr) c.10213C>A (p.Pro3405Thr) c.9913C>A (p.Pro3305Thr) c.7177C>A (p.Pro2393Thr) c.6070C>A (p.Pro2024Thr) c.10096C>A (p.Pro3366Thr) c.5848C>A (p.Pro1950Thr) c.9076C>A (p.Pro3026Thr) | |
8 | g.99853605C>G | CA371781028 | VPS13B | c.10291C>G (p.Pro3431Ala) n.10361C>G c.*5973C>G (n.*5973C>G) c.10216C>G (p.Pro3406Ala) c.10288C>G (p.Pro3430Ala) c.10213C>G (p.Pro3405Ala) c.9913C>G (p.Pro3305Ala) c.7177C>G (p.Pro2393Ala) c.6070C>G (p.Pro2024Ala) c.10096C>G (p.Pro3366Ala) c.5848C>G (p.Pro1950Ala) c.9076C>G (p.Pro3026Ala) | |
8 | g.99853605C>T | CA371781025 | VPS13B | c.10291C>T (p.Pro3431Ser) n.10361C>T c.*5973C>T (n.*5973C>T) c.10216C>T (p.Pro3406Ser) c.10288C>T (p.Pro3430Ser) c.10213C>T (p.Pro3405Ser) c.9913C>T (p.Pro3305Ser) c.7177C>T (p.Pro2393Ser) c.6070C>T (p.Pro2024Ser) c.10096C>T (p.Pro3366Ser) c.5848C>T (p.Pro1950Ser) c.9076C>T (p.Pro3026Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853609_99853620del | CA2688071977 | VPS13B | c.10295_10306del (p.Gly3432_Pro3435del) n.10365_10376del c.*5977_*5988del (n.*5977_*5988del) c.10220_10231del (p.Gly3407_Pro3410del) c.10292_10303del (p.Gly3431_Pro3434del) c.10217_10228del (p.Gly3406_Pro3409del) c.9917_9928del (p.Gly3306_Pro3309del) c.7181_7192del (p.Gly2394_Pro2397del) c.6074_6085del (p.Gly2025_Pro2028del) c.10100_10111del (p.Gly3367_Pro3370del) c.5852_5863del (p.Gly1951_Pro1954del) c.9080_9091del (p.Gly3027_Pro3030del) | gnomAD v4 |
8 | g.99853606C>A | CA371781030 | VPS13B | c.10292C>A (p.Pro3431His) n.10362C>A c.*5974C>A (n.*5974C>A) c.10217C>A (p.Pro3406His) c.10289C>A (p.Pro3430His) c.10214C>A (p.Pro3405His) c.9914C>A (p.Pro3305His) c.7178C>A (p.Pro2393His) c.6071C>A (p.Pro2024His) c.10097C>A (p.Pro3366His) c.5849C>A (p.Pro1950His) c.9077C>A (p.Pro3026His) | |
8 | g.99853606C>G | CA371781031 | VPS13B | c.10292C>G (p.Pro3431Arg) n.10362C>G c.*5974C>G (n.*5974C>G) c.10217C>G (p.Pro3406Arg) c.10289C>G (p.Pro3430Arg) c.10214C>G (p.Pro3405Arg) c.9914C>G (p.Pro3305Arg) c.7178C>G (p.Pro2393Arg) c.6071C>G (p.Pro2024Arg) c.10097C>G (p.Pro3366Arg) c.5849C>G (p.Pro1950Arg) c.9077C>G (p.Pro3026Arg) | |
8 | g.99853606C>T | CA4824910 | VPS13B | c.10292C>T (p.Pro3431Leu) n.10362C>T c.*5974C>T (n.*5974C>T) c.10217C>T (p.Pro3406Leu) c.10289C>T (p.Pro3430Leu) c.10214C>T (p.Pro3405Leu) c.9914C>T (p.Pro3305Leu) c.7178C>T (p.Pro2393Leu) c.6071C>T (p.Pro2024Leu) c.10097C>T (p.Pro3366Leu) c.5849C>T (p.Pro1950Leu) c.9077C>T (p.Pro3026Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853607del | CA2579210870 | VPS13B | c.10293del (p.Glu3433LysfsTer22) n.10363del c.*5975del (n.*5975del) c.10218del (p.Glu3408LysfsTer22) c.10290del (p.Glu3432LysfsTer22) c.10215del (p.Glu3407LysfsTer22) c.9915del (p.Glu3307LysfsTer22) c.7179del (p.Glu2395LysfsTer22) c.6072del (p.Glu2026LysfsTer22) c.10098del (p.Glu3368LysfsTer22) c.5850del (p.Glu1952LysfsTer22) c.9078del (p.Glu3028LysfsTer22) | |
8 | g.99853607T>A | CA462458123 | VPS13B | c.10293T>A (p.Pro3431=) n.10363T>A c.*5975T>A (n.*5975T>A) c.10218T>A (p.Pro3406=) c.10290T>A (p.Pro3430=) c.10215T>A (p.Pro3405=) c.9915T>A (p.Pro3305=) c.7179T>A (p.Pro2393=) c.6072T>A (p.Pro2024=) c.10098T>A (p.Pro3366=) c.5850T>A (p.Pro1950=) c.9078T>A (p.Pro3026=) | |
8 | g.99853607T>C | CA462458124 | VPS13B | c.10293T>C (p.Pro3431=) n.10363T>C c.*5975T>C (n.*5975T>C) c.10218T>C (p.Pro3406=) c.10290T>C (p.Pro3430=) c.10215T>C (p.Pro3405=) c.9915T>C (p.Pro3305=) c.7179T>C (p.Pro2393=) c.6072T>C (p.Pro2024=) c.10098T>C (p.Pro3366=) c.5850T>C (p.Pro1950=) c.9078T>C (p.Pro3026=) | |
8 | g.99853607T>G | CA462458125 | VPS13B | c.10293T>G (p.Pro3431=) n.10363T>G c.*5975T>G (n.*5975T>G) c.10218T>G (p.Pro3406=) c.10290T>G (p.Pro3430=) c.10215T>G (p.Pro3405=) c.9915T>G (p.Pro3305=) c.7179T>G (p.Pro2393=) c.6072T>G (p.Pro2024=) c.10098T>G (p.Pro3366=) c.5850T>G (p.Pro1950=) c.9078T>G (p.Pro3026=) | gnomAD v4 |
8 | g.99853608G>A | CA148905 | VPS13B | c.10294G>A (p.Gly3432Arg) n.10364G>A c.*5976G>A (n.*5976G>A) c.10219G>A (p.Gly3407Arg) c.10291G>A (p.Gly3431Arg) c.10216G>A (p.Gly3406Arg) c.9916G>A (p.Gly3306Arg) c.7180G>A (p.Gly2394Arg) c.6073G>A (p.Gly2025Arg) c.10099G>A (p.Gly3367Arg) c.5851G>A (p.Gly1951Arg) c.9079G>A (p.Gly3027Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853608G>C | CA4824911 | VPS13B | c.10294G>C (p.Gly3432Arg) n.10364G>C c.*5976G>C (n.*5976G>C) c.10219G>C (p.Gly3407Arg) c.10291G>C (p.Gly3431Arg) c.10216G>C (p.Gly3406Arg) c.9916G>C (p.Gly3306Arg) c.7180G>C (p.Gly2394Arg) c.6073G>C (p.Gly2025Arg) c.10099G>C (p.Gly3367Arg) c.5851G>C (p.Gly1951Arg) c.9079G>C (p.Gly3027Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853608G= | CA2497029192 | VPS13B | c.10294G= (p.Gly3432=) n.10364G= c.*5976G= (n.*5976G=) c.10219G= (p.Gly3407=) c.10291G= (p.Gly3431=) c.10216G= (p.Gly3406=) c.9916G= (p.Gly3306=) c.7180G= (p.Gly2394=) c.6073G= (p.Gly2025=) c.10099G= (p.Gly3367=) c.5851G= (p.Gly1951=) c.9079G= (p.Gly3027=) | |
8 | g.99853608G>T | CA371781035 | VPS13B | c.10294G>T (p.Gly3432Trp) n.10364G>T c.*5976G>T (n.*5976G>T) c.10219G>T (p.Gly3407Trp) c.10291G>T (p.Gly3431Trp) c.10216G>T (p.Gly3406Trp) c.9916G>T (p.Gly3306Trp) c.7180G>T (p.Gly2394Trp) c.6073G>T (p.Gly2025Trp) c.10099G>T (p.Gly3367Trp) c.5851G>T (p.Gly1951Trp) c.9079G>T (p.Gly3027Trp) | |
8 | g.99853609G>A | CA4824912 | VPS13B | c.10295G>A (p.Gly3432Glu) n.10365G>A c.*5977G>A (n.*5977G>A) c.10220G>A (p.Gly3407Glu) c.10292G>A (p.Gly3431Glu) c.10217G>A (p.Gly3406Glu) c.9917G>A (p.Gly3306Glu) c.7181G>A (p.Gly2394Glu) c.6074G>A (p.Gly2025Glu) c.10100G>A (p.Gly3367Glu) c.5852G>A (p.Gly1951Glu) c.9080G>A (p.Gly3027Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853609G>C | CA371781037 | VPS13B | c.10295G>C (p.Gly3432Ala) n.10365G>C c.*5977G>C (n.*5977G>C) c.10220G>C (p.Gly3407Ala) c.10292G>C (p.Gly3431Ala) c.10217G>C (p.Gly3406Ala) c.9917G>C (p.Gly3306Ala) c.7181G>C (p.Gly2394Ala) c.6074G>C (p.Gly2025Ala) c.10100G>C (p.Gly3367Ala) c.5852G>C (p.Gly1951Ala) c.9080G>C (p.Gly3027Ala) | |
8 | g.99853609G>T | CA371781036 | VPS13B | c.10295G>T (p.Gly3432Val) n.10365G>T c.*5977G>T (n.*5977G>T) c.10220G>T (p.Gly3407Val) c.10292G>T (p.Gly3431Val) c.10217G>T (p.Gly3406Val) c.9917G>T (p.Gly3306Val) c.7181G>T (p.Gly2394Val) c.6074G>T (p.Gly2025Val) c.10100G>T (p.Gly3367Val) c.5852G>T (p.Gly1951Val) c.9080G>T (p.Gly3027Val) | |
8 | g.99853610G>A | CA4824913 | VPS13B | c.10296G>A (p.Gly3432=) n.10366G>A c.*5978G>A (n.*5978G>A) c.10221G>A (p.Gly3407=) c.10293G>A (p.Gly3431=) c.10218G>A (p.Gly3406=) c.9918G>A (p.Gly3306=) c.7182G>A (p.Gly2394=) c.6075G>A (p.Gly2025=) c.10101G>A (p.Gly3367=) c.5853G>A (p.Gly1951=) c.9081G>A (p.Gly3027=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853610G>C | CA182314133 | VPS13B | c.10296G>C (p.Gly3432=) n.10366G>C c.*5978G>C (n.*5978G>C) c.10221G>C (p.Gly3407=) c.10293G>C (p.Gly3431=) c.10218G>C (p.Gly3406=) c.9918G>C (p.Gly3306=) c.7182G>C (p.Gly2394=) c.6075G>C (p.Gly2025=) c.10101G>C (p.Gly3367=) c.5853G>C (p.Gly1951=) c.9081G>C (p.Gly3027=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853610G>T | CA462458126 | VPS13B | c.10296G>T (p.Gly3432=) n.10366G>T c.*5978G>T (n.*5978G>T) c.10221G>T (p.Gly3407=) c.10293G>T (p.Gly3431=) c.10218G>T (p.Gly3406=) c.9918G>T (p.Gly3306=) c.7182G>T (p.Gly2394=) c.6075G>T (p.Gly2025=) c.10101G>T (p.Gly3367=) c.5853G>T (p.Gly1951=) c.9081G>T (p.Gly3027=) |