| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99766792_99766811dup | CA2717996332 | VPS13B | c.7144_7163dup (p.Lys2388AsnfsTer34) n.7214_7233dup c.*2826_*2845dup (n.*2826_*2845dup) c.7069_7088dup (p.Lys2363AsnfsTer34) n.199_218dup c.7141_7160dup (p.Lys2387AsnfsTer34) c.7066_7085dup (p.Lys2362AsnfsTer34) c.6766_6785dup (p.Lys2262AsnfsTer34) c.4030_4049dup (p.Lys1350AsnfsTer34) c.2923_2942dup (p.Lys981AsnfsTer34) n.2065+3880_2065+3899dup c.6949_6968dup (p.Lys2323AsnfsTer34) c.2701_2720dup (p.Lys907AsnfsTer34) c.5929_5948dup (p.Lys1983AsnfsTer34) | dbSNP |
| 8 | g.99766803A>C | CA371873916 | VPS13B | c.7155A>C (p.Glu2385Asp) n.7225A>C c.*2837A>C (n.*2837A>C) c.7080A>C (p.Glu2360Asp) n.210A>C c.7152A>C (p.Glu2384Asp) c.7077A>C (p.Glu2359Asp) c.6777A>C (p.Glu2259Asp) c.4041A>C (p.Glu1347Asp) c.2934A>C (p.Glu978Asp) n.2065+3885T>G c.6960A>C (p.Glu2320Asp) c.2712A>C (p.Glu904Asp) c.5940A>C (p.Glu1980Asp) | |
| 8 | g.99766803A>G | CA462448903 | VPS13B | c.7155A>G (p.Glu2385=) n.7225A>G c.*2837A>G (n.*2837A>G) c.7080A>G (p.Glu2360=) n.210A>G c.7152A>G (p.Glu2384=) c.7077A>G (p.Glu2359=) c.6777A>G (p.Glu2259=) c.4041A>G (p.Glu1347=) c.2934A>G (p.Glu978=) n.2065+3885T>C c.6960A>G (p.Glu2320=) c.2712A>G (p.Glu904=) c.5940A>G (p.Glu1980=) | |
| 8 | g.99766803A>T | CA371873919 | VPS13B | c.7155A>T (p.Glu2385Asp) n.7225A>T c.*2837A>T (n.*2837A>T) c.7080A>T (p.Glu2360Asp) n.210A>T c.7152A>T (p.Glu2384Asp) c.7077A>T (p.Glu2359Asp) c.6777A>T (p.Glu2259Asp) c.4041A>T (p.Glu1347Asp) c.2934A>T (p.Glu978Asp) n.2065+3885T>A c.6960A>T (p.Glu2320Asp) c.2712A>T (p.Glu904Asp) c.5940A>T (p.Glu1980Asp) | |
| 8 | g.99766804C>A | CA371873923 | VPS13B | c.7156C>A (p.Leu2386Ile) n.7226C>A c.*2838C>A (n.*2838C>A) c.7081C>A (p.Leu2361Ile) n.211C>A c.7153C>A (p.Leu2385Ile) c.7078C>A (p.Leu2360Ile) c.6778C>A (p.Leu2260Ile) c.4042C>A (p.Leu1348Ile) c.2935C>A (p.Leu979Ile) n.2065+3884G>T c.6961C>A (p.Leu2321Ile) c.2713C>A (p.Leu905Ile) c.5941C>A (p.Leu1981Ile) | |
| 8 | g.99766804C>G | CA371873925 | VPS13B | c.7156C>G (p.Leu2386Val) n.7226C>G c.*2838C>G (n.*2838C>G) c.7081C>G (p.Leu2361Val) n.211C>G c.7153C>G (p.Leu2385Val) c.7078C>G (p.Leu2360Val) c.6778C>G (p.Leu2260Val) c.4042C>G (p.Leu1348Val) c.2935C>G (p.Leu979Val) n.2065+3884G>C c.6961C>G (p.Leu2321Val) c.2713C>G (p.Leu905Val) c.5941C>G (p.Leu1981Val) | |
| 8 | g.99766804C>T | CA371873921 | VPS13B | c.7156C>T (p.Leu2386Phe) n.7226C>T c.*2838C>T (n.*2838C>T) c.7081C>T (p.Leu2361Phe) n.211C>T c.7153C>T (p.Leu2385Phe) c.7078C>T (p.Leu2360Phe) c.6778C>T (p.Leu2260Phe) c.4042C>T (p.Leu1348Phe) c.2935C>T (p.Leu979Phe) n.2065+3884G>A c.6961C>T (p.Leu2321Phe) c.2713C>T (p.Leu905Phe) c.5941C>T (p.Leu1981Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99766805T>A | CA371873930 | VPS13B | c.7157T>A (p.Leu2386His) n.7227T>A c.*2839T>A (n.*2839T>A) c.7082T>A (p.Leu2361His) n.212T>A c.7154T>A (p.Leu2385His) c.7079T>A (p.Leu2360His) c.6779T>A (p.Leu2260His) c.4043T>A (p.Leu1348His) c.2936T>A (p.Leu979His) n.2065+3883A>T c.6962T>A (p.Leu2321His) c.2714T>A (p.Leu905His) c.5942T>A (p.Leu1981His) | |
| 8 | g.99766805T>C | CA371873928 | VPS13B | c.7157T>C (p.Leu2386Pro) n.7227T>C c.*2839T>C (n.*2839T>C) c.7082T>C (p.Leu2361Pro) n.212T>C c.7154T>C (p.Leu2385Pro) c.7079T>C (p.Leu2360Pro) c.6779T>C (p.Leu2260Pro) c.4043T>C (p.Leu1348Pro) c.2936T>C (p.Leu979Pro) n.2065+3883A>G c.6962T>C (p.Leu2321Pro) c.2714T>C (p.Leu905Pro) c.5942T>C (p.Leu1981Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99766805T>G | CA371873932 | VPS13B | c.7157T>G (p.Leu2386Arg) n.7227T>G c.*2839T>G (n.*2839T>G) c.7082T>G (p.Leu2361Arg) n.212T>G c.7154T>G (p.Leu2385Arg) c.7079T>G (p.Leu2360Arg) c.6779T>G (p.Leu2260Arg) c.4043T>G (p.Leu1348Arg) c.2936T>G (p.Leu979Arg) n.2065+3883A>C c.6962T>G (p.Leu2321Arg) c.2714T>G (p.Leu905Arg) c.5942T>G (p.Leu1981Arg) | |
| 8 | g.99766806C>A | CA462448906 | VPS13B | c.7158C>A (p.Leu2386=) n.7228C>A c.*2840C>A (n.*2840C>A) c.7083C>A (p.Leu2361=) n.213C>A c.7155C>A (p.Leu2385=) c.7080C>A (p.Leu2360=) c.6780C>A (p.Leu2260=) c.4044C>A (p.Leu1348=) c.2937C>A (p.Leu979=) n.2065+3882G>T c.6963C>A (p.Leu2321=) c.2715C>A (p.Leu905=) c.5943C>A (p.Leu1981=) | |
| 8 | g.99766806C>G | CA462448907 | VPS13B | c.7158C>G (p.Leu2386=) n.7228C>G c.*2840C>G (n.*2840C>G) c.7083C>G (p.Leu2361=) n.213C>G c.7155C>G (p.Leu2385=) c.7080C>G (p.Leu2360=) c.6780C>G (p.Leu2260=) c.4044C>G (p.Leu1348=) c.2937C>G (p.Leu979=) n.2065+3882G>C c.6963C>G (p.Leu2321=) c.2715C>G (p.Leu905=) c.5943C>G (p.Leu1981=) | gnomAD v4 |
| 8 | g.99766806C>T | CA462448908 | VPS13B | c.7158C>T (p.Leu2386=) n.7228C>T c.*2840C>T (n.*2840C>T) c.7083C>T (p.Leu2361=) n.213C>T c.7155C>T (p.Leu2385=) c.7080C>T (p.Leu2360=) c.6780C>T (p.Leu2260=) c.4044C>T (p.Leu1348=) c.2937C>T (p.Leu979=) n.2065+3882G>A c.6963C>T (p.Leu2321=) c.2715C>T (p.Leu905=) c.5943C>T (p.Leu1981=) | |
| 8 | g.99766807C>A | CA371873935 | VPS13B | c.7159C>A (p.Gln2387Lys) n.7229C>A c.*2841C>A (n.*2841C>A) c.7084C>A (p.Gln2362Lys) n.214C>A c.7156C>A (p.Gln2386Lys) c.7081C>A (p.Gln2361Lys) c.6781C>A (p.Gln2261Lys) c.4045C>A (p.Gln1349Lys) c.2938C>A (p.Gln980Lys) n.2065+3881G>T c.6964C>A (p.Gln2322Lys) c.2716C>A (p.Gln906Lys) c.5944C>A (p.Gln1982Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99766807C>G | CA371873938 | VPS13B | c.7159C>G (p.Gln2387Glu) n.7229C>G c.*2841C>G (n.*2841C>G) c.7084C>G (p.Gln2362Glu) n.214C>G c.7156C>G (p.Gln2386Glu) c.7081C>G (p.Gln2361Glu) c.6781C>G (p.Gln2261Glu) c.4045C>G (p.Gln1349Glu) c.2938C>G (p.Gln980Glu) n.2065+3881G>C c.6964C>G (p.Gln2322Glu) c.2716C>G (p.Gln906Glu) c.5944C>G (p.Gln1982Glu) | |
| 8 | g.99766807C>T | CA371873940 | VPS13B | c.7159C>T (p.Gln2387Ter) n.7229C>T c.*2841C>T (n.*2841C>T) c.7084C>T (p.Gln2362Ter) n.214C>T c.7156C>T (p.Gln2386Ter) c.7081C>T (p.Gln2361Ter) c.6781C>T (p.Gln2261Ter) c.4045C>T (p.Gln1349Ter) c.2938C>T (p.Gln980Ter) n.2065+3881G>A c.6964C>T (p.Gln2322Ter) c.2716C>T (p.Gln906Ter) c.5944C>T (p.Gln1982Ter) | |
| 8 | g.99766808A>C | CA371873942 | VPS13B | c.7160A>C (p.Gln2387Pro) n.7230A>C c.*2842A>C (n.*2842A>C) c.7085A>C (p.Gln2362Pro) n.215A>C c.7157A>C (p.Gln2386Pro) c.7082A>C (p.Gln2361Pro) c.6782A>C (p.Gln2261Pro) c.4046A>C (p.Gln1349Pro) c.2939A>C (p.Gln980Pro) n.2065+3880T>G c.6965A>C (p.Gln2322Pro) c.2717A>C (p.Gln906Pro) c.5945A>C (p.Gln1982Pro) | |
| 8 | g.99766808A>G | CA183039743 | VPS13B | c.7160A>G (p.Gln2387Arg) n.7230A>G c.*2842A>G (n.*2842A>G) c.7085A>G (p.Gln2362Arg) n.215A>G c.7157A>G (p.Gln2386Arg) c.7082A>G (p.Gln2361Arg) c.6782A>G (p.Gln2261Arg) c.4046A>G (p.Gln1349Arg) c.2939A>G (p.Gln980Arg) n.2065+3880T>C c.6965A>G (p.Gln2322Arg) c.2717A>G (p.Gln906Arg) c.5945A>G (p.Gln1982Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99766808A>T | CA371873945 | VPS13B | c.7160A>T (p.Gln2387Leu) n.7230A>T c.*2842A>T (n.*2842A>T) c.7085A>T (p.Gln2362Leu) n.215A>T c.7157A>T (p.Gln2386Leu) c.7082A>T (p.Gln2361Leu) c.6782A>T (p.Gln2261Leu) c.4046A>T (p.Gln1349Leu) c.2939A>T (p.Gln980Leu) n.2065+3880T>A c.6965A>T (p.Gln2322Leu) c.2717A>T (p.Gln906Leu) c.5945A>T (p.Gln1982Leu) | |
| 8 | g.99766809G>A | CA462448912 | VPS13B | c.7161G>A (p.Gln2387=) n.7231G>A c.*2843G>A (n.*2843G>A) c.7086G>A (p.Gln2362=) n.216G>A c.7158G>A (p.Gln2386=) c.7083G>A (p.Gln2361=) c.6783G>A (p.Gln2261=) c.4047G>A (p.Gln1349=) c.2940G>A (p.Gln980=) n.2065+3879C>T c.6966G>A (p.Gln2322=) c.2718G>A (p.Gln906=) c.5946G>A (p.Gln1982=) | ClinVar dbSNP |
| 8 | g.99766809G>C | CA371873948 | VPS13B | c.7161G>C (p.Gln2387His) n.7231G>C c.*2843G>C (n.*2843G>C) c.7086G>C (p.Gln2362His) n.216G>C c.7158G>C (p.Gln2386His) c.7083G>C (p.Gln2361His) c.6783G>C (p.Gln2261His) c.4047G>C (p.Gln1349His) c.2940G>C (p.Gln980His) n.2065+3879C>G c.6966G>C (p.Gln2322His) c.2718G>C (p.Gln906His) c.5946G>C (p.Gln1982His) | |
| 8 | g.99766809G>T | CA371873949 | VPS13B | c.7161G>T (p.Gln2387His) n.7231G>T c.*2843G>T (n.*2843G>T) c.7086G>T (p.Gln2362His) n.216G>T c.7158G>T (p.Gln2386His) c.7083G>T (p.Gln2361His) c.6783G>T (p.Gln2261His) c.4047G>T (p.Gln1349His) c.2940G>T (p.Gln980His) n.2065+3879C>A c.6966G>T (p.Gln2322His) c.2718G>T (p.Gln906His) c.5946G>T (p.Gln1982His) | |
| 8 | g.99766810A>C | CA245538 | VPS13B | c.7162A>C (p.Lys2388Gln) n.7232A>C c.*2844A>C (n.*2844A>C) c.7087A>C (p.Lys2363Gln) n.217A>C c.7159A>C (p.Lys2387Gln) c.7084A>C (p.Lys2362Gln) c.6784A>C (p.Lys2262Gln) c.4048A>C (p.Lys1350Gln) c.2941A>C (p.Lys981Gln) n.2065+3878T>G c.6967A>C (p.Lys2323Gln) c.2719A>C (p.Lys907Gln) c.5947A>C (p.Lys1983Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99766810A>G | CA371873955 | VPS13B | c.7162A>G (p.Lys2388Glu) n.7232A>G c.*2844A>G (n.*2844A>G) c.7087A>G (p.Lys2363Glu) n.217A>G c.7159A>G (p.Lys2387Glu) c.7084A>G (p.Lys2362Glu) c.6784A>G (p.Lys2262Glu) c.4048A>G (p.Lys1350Glu) c.2941A>G (p.Lys981Glu) n.2065+3878T>C c.6967A>G (p.Lys2323Glu) c.2719A>G (p.Lys907Glu) c.5947A>G (p.Lys1983Glu) | |
| 8 | g.99766810A>T | CA371873960 | VPS13B | c.7162A>T (p.Lys2388Ter) n.7232A>T c.*2844A>T (n.*2844A>T) c.7087A>T (p.Lys2363Ter) n.217A>T c.7159A>T (p.Lys2387Ter) c.7084A>T (p.Lys2362Ter) c.6784A>T (p.Lys2262Ter) c.4048A>T (p.Lys1350Ter) c.2941A>T (p.Lys981Ter) n.2065+3878T>A c.6967A>T (p.Lys2323Ter) c.2719A>T (p.Lys907Ter) c.5947A>T (p.Lys1983Ter) | |
| 8 | g.99766811A>C | CA371873967 | VPS13B | c.7163A>C (p.Lys2388Thr) n.7233A>C c.*2845A>C (n.*2845A>C) c.7088A>C (p.Lys2363Thr) n.218A>C c.7160A>C (p.Lys2387Thr) c.7085A>C (p.Lys2362Thr) c.6785A>C (p.Lys2262Thr) c.4049A>C (p.Lys1350Thr) c.2942A>C (p.Lys981Thr) n.2065+3877T>G c.6968A>C (p.Lys2323Thr) c.2720A>C (p.Lys907Thr) c.5948A>C (p.Lys1983Thr) | gnomAD v4 |
| 8 | g.99766811A>G | CA4824150 | VPS13B | c.7163A>G (p.Lys2388Arg) n.7233A>G c.*2845A>G (n.*2845A>G) c.7088A>G (p.Lys2363Arg) n.218A>G c.7160A>G (p.Lys2387Arg) c.7085A>G (p.Lys2362Arg) c.6785A>G (p.Lys2262Arg) c.4049A>G (p.Lys1350Arg) c.2942A>G (p.Lys981Arg) n.2065+3877T>C c.6968A>G (p.Lys2323Arg) c.2720A>G (p.Lys907Arg) c.5948A>G (p.Lys1983Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99766811A>T | CA371873964 | VPS13B | c.7163A>T (p.Lys2388Met) n.7233A>T c.*2845A>T (n.*2845A>T) c.7088A>T (p.Lys2363Met) n.218A>T c.7160A>T (p.Lys2387Met) c.7085A>T (p.Lys2362Met) c.6785A>T (p.Lys2262Met) c.4049A>T (p.Lys1350Met) c.2942A>T (p.Lys981Met) n.2065+3877T>A c.6968A>T (p.Lys2323Met) c.2720A>T (p.Lys907Met) c.5948A>T (p.Lys1983Met) | ClinVar |
| 8 | g.99766812G>A | CA462448919 | VPS13B | c.7164G>A (p.Lys2388=) n.7234G>A c.*2846G>A (n.*2846G>A) c.7089G>A (p.Lys2363=) n.219G>A c.7161G>A (p.Lys2387=) c.7086G>A (p.Lys2362=) c.6786G>A (p.Lys2262=) c.4050G>A (p.Lys1350=) c.2943G>A (p.Lys981=) n.2065+3876C>T c.6969G>A (p.Lys2323=) c.2721G>A (p.Lys907=) c.5949G>A (p.Lys1983=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99766812G>C | CA371873968 | VPS13B | c.7164G>C (p.Lys2388Asn) n.7234G>C c.*2846G>C (n.*2846G>C) c.7089G>C (p.Lys2363Asn) n.219G>C c.7161G>C (p.Lys2387Asn) c.7086G>C (p.Lys2362Asn) c.6786G>C (p.Lys2262Asn) c.4050G>C (p.Lys1350Asn) c.2943G>C (p.Lys981Asn) n.2065+3876C>G c.6969G>C (p.Lys2323Asn) c.2721G>C (p.Lys907Asn) c.5949G>C (p.Lys1983Asn) | |
| 8 | g.99766812G>T | CA371873970 | VPS13B | c.7164G>T (p.Lys2388Asn) n.7234G>T c.*2846G>T (n.*2846G>T) c.7089G>T (p.Lys2363Asn) n.219G>T c.7161G>T (p.Lys2387Asn) c.7086G>T (p.Lys2362Asn) c.6786G>T (p.Lys2262Asn) c.4050G>T (p.Lys1350Asn) c.2943G>T (p.Lys981Asn) n.2065+3876C>A c.6969G>T (p.Lys2323Asn) c.2721G>T (p.Lys907Asn) c.5949G>T (p.Lys1983Asn) | |
| 8 | g.99766813G>A | CA371873973 | VPS13B | c.7165G>A (p.Val2389Ile) n.7235G>A c.*2847G>A (n.*2847G>A) c.7090G>A (p.Val2364Ile) n.220G>A c.7162G>A (p.Val2388Ile) c.7087G>A (p.Val2363Ile) c.6787G>A (p.Val2263Ile) c.4051G>A (p.Val1351Ile) c.2944G>A (p.Val982Ile) n.2065+3875C>T c.6970G>A (p.Val2324Ile) c.2722G>A (p.Val908Ile) c.5950G>A (p.Val1984Ile) | |
| 8 | g.99766813G>C | CA371873975 | VPS13B | c.7165G>C (p.Val2389Leu) n.7235G>C c.*2847G>C (n.*2847G>C) c.7090G>C (p.Val2364Leu) n.220G>C c.7162G>C (p.Val2388Leu) c.7087G>C (p.Val2363Leu) c.6787G>C (p.Val2263Leu) c.4051G>C (p.Val1351Leu) c.2944G>C (p.Val982Leu) n.2065+3875C>G c.6970G>C (p.Val2324Leu) c.2722G>C (p.Val908Leu) c.5950G>C (p.Val1984Leu) | gnomAD v4 |
| 8 | g.99766813G>T | CA371873977 | VPS13B | c.7165G>T (p.Val2389Phe) n.7235G>T c.*2847G>T (n.*2847G>T) c.7090G>T (p.Val2364Phe) n.220G>T c.7162G>T (p.Val2388Phe) c.7087G>T (p.Val2363Phe) c.6787G>T (p.Val2263Phe) c.4051G>T (p.Val1351Phe) c.2944G>T (p.Val982Phe) n.2065+3875C>A c.6970G>T (p.Val2324Phe) c.2722G>T (p.Val908Phe) c.5950G>T (p.Val1984Phe) | |
| 8 | g.99766814T>A | CA371873980 | VPS13B | c.7166T>A (p.Val2389Asp) n.7236T>A c.*2848T>A (n.*2848T>A) c.7091T>A (p.Val2364Asp) n.221T>A c.7163T>A (p.Val2388Asp) c.7088T>A (p.Val2363Asp) c.6788T>A (p.Val2263Asp) c.4052T>A (p.Val1351Asp) c.2945T>A (p.Val982Asp) n.2065+3874A>T c.6971T>A (p.Val2324Asp) c.2723T>A (p.Val908Asp) c.5951T>A (p.Val1984Asp) | |
| 8 | g.99766814T>C | CA371873982 | VPS13B | c.7166T>C (p.Val2389Ala) n.7236T>C c.*2848T>C (n.*2848T>C) c.7091T>C (p.Val2364Ala) n.221T>C c.7163T>C (p.Val2388Ala) c.7088T>C (p.Val2363Ala) c.6788T>C (p.Val2263Ala) c.4052T>C (p.Val1351Ala) c.2945T>C (p.Val982Ala) n.2065+3874A>G c.6971T>C (p.Val2324Ala) c.2723T>C (p.Val908Ala) c.5951T>C (p.Val1984Ala) | |
| 8 | g.99766814T>G | CA371873985 | VPS13B | c.7166T>G (p.Val2389Gly) n.7236T>G c.*2848T>G (n.*2848T>G) c.7091T>G (p.Val2364Gly) n.221T>G c.7163T>G (p.Val2388Gly) c.7088T>G (p.Val2363Gly) c.6788T>G (p.Val2263Gly) c.4052T>G (p.Val1351Gly) c.2945T>G (p.Val982Gly) n.2065+3874A>C c.6971T>G (p.Val2324Gly) c.2723T>G (p.Val908Gly) c.5951T>G (p.Val1984Gly) | |
| 8 | g.99766818dup | CA2688067896 | VPS13B | c.7170dup (p.Val2391CysfsTer4) n.7240dup c.*2852dup (n.*2852dup) c.7095dup (p.Val2366CysfsTer4) n.225dup c.7167dup (p.Val2390CysfsTer4) c.7092dup (p.Val2365CysfsTer4) c.6792dup (p.Val2265CysfsTer4) c.4056dup (p.Val1353CysfsTer4) c.2949dup (p.Val984CysfsTer4) n.2065+3874dup c.6975dup (p.Val2326CysfsTer4) c.2727dup (p.Val910CysfsTer4) c.5955dup (p.Val1986CysfsTer4) | gnomAD v4 |
| 8 | g.99766815T>A | CA462448925 | VPS13B | c.7167T>A (p.Val2389=) n.7237T>A c.*2849T>A (n.*2849T>A) c.7092T>A (p.Val2364=) n.222T>A c.7164T>A (p.Val2388=) c.7089T>A (p.Val2363=) c.6789T>A (p.Val2263=) c.4053T>A (p.Val1351=) c.2946T>A (p.Val982=) n.2065+3873A>T c.6972T>A (p.Val2324=) c.2724T>A (p.Val908=) c.5952T>A (p.Val1984=) | |
| 8 | g.99766815T>C | CA462448923 | VPS13B | c.7167T>C (p.Val2389=) n.7237T>C c.*2849T>C (n.*2849T>C) c.7092T>C (p.Val2364=) n.222T>C c.7164T>C (p.Val2388=) c.7089T>C (p.Val2363=) c.6789T>C (p.Val2263=) c.4053T>C (p.Val1351=) c.2946T>C (p.Val982=) n.2065+3873A>G c.6972T>C (p.Val2324=) c.2724T>C (p.Val908=) c.5952T>C (p.Val1984=) | |
| 8 | g.99766815T>G | CA462448924 | VPS13B | c.7167T>G (p.Val2389=) n.7237T>G c.*2849T>G (n.*2849T>G) c.7092T>G (p.Val2364=) n.222T>G c.7164T>G (p.Val2388=) c.7089T>G (p.Val2363=) c.6789T>G (p.Val2263=) c.4053T>G (p.Val1351=) c.2946T>G (p.Val982=) n.2065+3873A>C c.6972T>G (p.Val2324=) c.2724T>G (p.Val908=) c.5952T>G (p.Val1984=) | |
| 8 | g.99766816T>A | CA371873987 | VPS13B | c.7168T>A (p.Phe2390Ile) n.7238T>A c.*2850T>A (n.*2850T>A) c.7093T>A (p.Phe2365Ile) n.223T>A c.7165T>A (p.Phe2389Ile) c.7090T>A (p.Phe2364Ile) c.6790T>A (p.Phe2264Ile) c.4054T>A (p.Phe1352Ile) c.2947T>A (p.Phe983Ile) n.2065+3872A>T c.6973T>A (p.Phe2325Ile) c.2725T>A (p.Phe909Ile) c.5953T>A (p.Phe1985Ile) | |
| 8 | g.99766816T>C | CA371873990 | VPS13B | c.7168T>C (p.Phe2390Leu) n.7238T>C c.*2850T>C (n.*2850T>C) c.7093T>C (p.Phe2365Leu) n.223T>C c.7165T>C (p.Phe2389Leu) c.7090T>C (p.Phe2364Leu) c.6790T>C (p.Phe2264Leu) c.4054T>C (p.Phe1352Leu) c.2947T>C (p.Phe983Leu) n.2065+3872A>G c.6973T>C (p.Phe2325Leu) c.2725T>C (p.Phe909Leu) c.5953T>C (p.Phe1985Leu) | |
| 8 | g.99766816T>G | CA371873992 | VPS13B | c.7168T>G (p.Phe2390Val) n.7238T>G c.*2850T>G (n.*2850T>G) c.7093T>G (p.Phe2365Val) n.223T>G c.7165T>G (p.Phe2389Val) c.7090T>G (p.Phe2364Val) c.6790T>G (p.Phe2264Val) c.4054T>G (p.Phe1352Val) c.2947T>G (p.Phe983Val) n.2065+3872A>C c.6973T>G (p.Phe2325Val) c.2725T>G (p.Phe909Val) c.5953T>G (p.Phe1985Val) | |
| 8 | g.99766817T>A | CA371873997 | VPS13B | c.7169T>A (p.Phe2390Tyr) n.7239T>A c.*2851T>A (n.*2851T>A) c.7094T>A (p.Phe2365Tyr) n.224T>A c.7166T>A (p.Phe2389Tyr) c.7091T>A (p.Phe2364Tyr) c.6791T>A (p.Phe2264Tyr) c.4055T>A (p.Phe1352Tyr) c.2948T>A (p.Phe983Tyr) n.2065+3871A>T c.6974T>A (p.Phe2325Tyr) c.2726T>A (p.Phe909Tyr) c.5954T>A (p.Phe1985Tyr) | |
| 8 | g.99766817T>C | CA371874000 | VPS13B | c.7169T>C (p.Phe2390Ser) n.7239T>C c.*2851T>C (n.*2851T>C) c.7094T>C (p.Phe2365Ser) n.224T>C c.7166T>C (p.Phe2389Ser) c.7091T>C (p.Phe2364Ser) c.6791T>C (p.Phe2264Ser) c.4055T>C (p.Phe1352Ser) c.2948T>C (p.Phe983Ser) n.2065+3871A>G c.6974T>C (p.Phe2325Ser) c.2726T>C (p.Phe909Ser) c.5954T>C (p.Phe1985Ser) | |
| 8 | g.99766817T>G | CA371873994 | VPS13B | c.7169T>G (p.Phe2390Cys) n.7239T>G c.*2851T>G (n.*2851T>G) c.7094T>G (p.Phe2365Cys) n.224T>G c.7166T>G (p.Phe2389Cys) c.7091T>G (p.Phe2364Cys) c.6791T>G (p.Phe2264Cys) c.4055T>G (p.Phe1352Cys) c.2948T>G (p.Phe983Cys) n.2065+3871A>C c.6974T>G (p.Phe2325Cys) c.2726T>G (p.Phe909Cys) c.5954T>G (p.Phe1985Cys) | |
| 8 | g.99766818T>A | CA371874003 | VPS13B | c.7170T>A (p.Phe2390Leu) n.7240T>A c.*2852T>A (n.*2852T>A) c.7095T>A (p.Phe2365Leu) n.225T>A c.7167T>A (p.Phe2389Leu) c.7092T>A (p.Phe2364Leu) c.6792T>A (p.Phe2264Leu) c.4056T>A (p.Phe1352Leu) c.2949T>A (p.Phe983Leu) n.2065+3870A>T c.6975T>A (p.Phe2325Leu) c.2727T>A (p.Phe909Leu) c.5955T>A (p.Phe1985Leu) | |
| 8 | g.99766818T>C | CA462448930 | VPS13B | c.7170T>C (p.Phe2390=) n.7240T>C c.*2852T>C (n.*2852T>C) c.7095T>C (p.Phe2365=) n.225T>C c.7167T>C (p.Phe2389=) c.7092T>C (p.Phe2364=) c.6792T>C (p.Phe2264=) c.4056T>C (p.Phe1352=) c.2949T>C (p.Phe983=) n.2065+3870A>G c.6975T>C (p.Phe2325=) c.2727T>C (p.Phe909=) c.5955T>C (p.Phe1985=) | |
| 8 | g.99766818T>G | CA371874004 | VPS13B | c.7170T>G (p.Phe2390Leu) n.7240T>G c.*2852T>G (n.*2852T>G) c.7095T>G (p.Phe2365Leu) n.225T>G c.7167T>G (p.Phe2389Leu) c.7092T>G (p.Phe2364Leu) c.6792T>G (p.Phe2264Leu) c.4056T>G (p.Phe1352Leu) c.2949T>G (p.Phe983Leu) n.2065+3870A>C c.6975T>G (p.Phe2325Leu) c.2727T>G (p.Phe909Leu) c.5955T>G (p.Phe1985Leu) |