UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99766912T>A | CA371874431 | VPS13B | c.7264T>A (p.Ser2422Thr) n.7334T>A c.*2946T>A (n.*2946T>A) c.7189T>A (p.Ser2397Thr) n.319T>A c.7261T>A (p.Ser2421Thr) c.7186T>A (p.Ser2396Thr) c.6886T>A (p.Ser2296Thr) c.4150T>A (p.Ser1384Thr) c.3043T>A (p.Ser1015Thr) n.2065+3776A>T c.7069T>A (p.Ser2357Thr) c.2821T>A (p.Ser941Thr) c.6049T>A (p.Ser2017Thr) | |
| 8 | g.99766912T>C | CA371874432 | VPS13B | c.7264T>C (p.Ser2422Pro) n.7334T>C c.*2946T>C (n.*2946T>C) c.7189T>C (p.Ser2397Pro) n.319T>C c.7261T>C (p.Ser2421Pro) c.7186T>C (p.Ser2396Pro) c.6886T>C (p.Ser2296Pro) c.4150T>C (p.Ser1384Pro) c.3043T>C (p.Ser1015Pro) n.2065+3776A>G c.7069T>C (p.Ser2357Pro) c.2821T>C (p.Ser941Pro) c.6049T>C (p.Ser2017Pro) | gnomAD v4 |
| 8 | g.99766912T>G | CA371874433 | VPS13B | c.7264T>G (p.Ser2422Ala) n.7334T>G c.*2946T>G (n.*2946T>G) c.7189T>G (p.Ser2397Ala) n.319T>G c.7261T>G (p.Ser2421Ala) c.7186T>G (p.Ser2396Ala) c.6886T>G (p.Ser2296Ala) c.4150T>G (p.Ser1384Ala) c.3043T>G (p.Ser1015Ala) n.2065+3776A>C c.7069T>G (p.Ser2357Ala) c.2821T>G (p.Ser941Ala) c.6049T>G (p.Ser2017Ala) | |
| 8 | g.99766913del | CA2697550070 | VPS13B | c.7265del (p.Ser2422PhefsTer9) n.7335del c.*2947del (n.*2947del) c.7190del (p.Ser2397PhefsTer9) n.320del c.7262del (p.Ser2421PhefsTer9) c.7187del (p.Ser2396PhefsTer9) c.6887del (p.Ser2296PhefsTer9) c.4151del (p.Ser1384PhefsTer9) c.3044del (p.Ser1015PhefsTer9) n.2065+3775del c.7070del (p.Ser2357PhefsTer9) c.2822del (p.Ser941PhefsTer9) c.6050del (p.Ser2017PhefsTer9) | ClinVar |
| 8 | g.99766913C>A | CA371874434 | VPS13B | c.7265C>A (p.Ser2422Tyr) n.7335C>A c.*2947C>A (n.*2947C>A) c.7190C>A (p.Ser2397Tyr) n.320C>A c.7262C>A (p.Ser2421Tyr) c.7187C>A (p.Ser2396Tyr) c.6887C>A (p.Ser2296Tyr) c.4151C>A (p.Ser1384Tyr) c.3044C>A (p.Ser1015Tyr) n.2065+3775G>T c.7070C>A (p.Ser2357Tyr) c.2822C>A (p.Ser941Tyr) c.6050C>A (p.Ser2017Tyr) | |
| 8 | g.99766913C>G | CA371874435 | VPS13B | c.7265C>G (p.Ser2422Cys) n.7335C>G c.*2947C>G (n.*2947C>G) c.7190C>G (p.Ser2397Cys) n.320C>G c.7262C>G (p.Ser2421Cys) c.7187C>G (p.Ser2396Cys) c.6887C>G (p.Ser2296Cys) c.4151C>G (p.Ser1384Cys) c.3044C>G (p.Ser1015Cys) n.2065+3775G>C c.7070C>G (p.Ser2357Cys) c.2822C>G (p.Ser941Cys) c.6050C>G (p.Ser2017Cys) | |
| 8 | g.99766913C>T | CA371874436 | VPS13B | c.7265C>T (p.Ser2422Phe) n.7335C>T c.*2947C>T (n.*2947C>T) c.7190C>T (p.Ser2397Phe) n.320C>T c.7262C>T (p.Ser2421Phe) c.7187C>T (p.Ser2396Phe) c.6887C>T (p.Ser2296Phe) c.4151C>T (p.Ser1384Phe) c.3044C>T (p.Ser1015Phe) n.2065+3775G>A c.7070C>T (p.Ser2357Phe) c.2822C>T (p.Ser941Phe) c.6050C>T (p.Ser2017Phe) | |
| 8 | g.99766914T>A | CA462448995 | VPS13B | c.7266T>A (p.Ser2422=) n.7336T>A c.*2948T>A (n.*2948T>A) c.7191T>A (p.Ser2397=) n.321T>A c.7263T>A (p.Ser2421=) c.7188T>A (p.Ser2396=) c.6888T>A (p.Ser2296=) c.4152T>A (p.Ser1384=) c.3045T>A (p.Ser1015=) n.2065+3774A>T c.7071T>A (p.Ser2357=) c.2823T>A (p.Ser941=) c.6051T>A (p.Ser2017=) | |
| 8 | g.99766914T>C | CA462448996 | VPS13B | c.7266T>C (p.Ser2422=) n.7336T>C c.*2948T>C (n.*2948T>C) c.7191T>C (p.Ser2397=) n.321T>C c.7263T>C (p.Ser2421=) c.7188T>C (p.Ser2396=) c.6888T>C (p.Ser2296=) c.4152T>C (p.Ser1384=) c.3045T>C (p.Ser1015=) n.2065+3774A>G c.7071T>C (p.Ser2357=) c.2823T>C (p.Ser941=) c.6051T>C (p.Ser2017=) | |
| 8 | g.99766914T>G | CA462448997 | VPS13B | c.7266T>G (p.Ser2422=) n.7336T>G c.*2948T>G (n.*2948T>G) c.7191T>G (p.Ser2397=) n.321T>G c.7263T>G (p.Ser2421=) c.7188T>G (p.Ser2396=) c.6888T>G (p.Ser2296=) c.4152T>G (p.Ser1384=) c.3045T>G (p.Ser1015=) n.2065+3774A>C c.7071T>G (p.Ser2357=) c.2823T>G (p.Ser941=) c.6051T>G (p.Ser2017=) | |
| 8 | g.99766914_99766915del | CA1139660678 | VPS13B | c.7266_7267del (p.Ser2423ArgfsTer15) n.7336_7337del c.*2948_*2949del (n.*2948_*2949del) c.7191_7192del (p.Ser2398ArgfsTer15) n.321_322del c.7263_7264del (p.Ser2422ArgfsTer15) c.7188_7189del (p.Ser2397ArgfsTer15) c.6888_6889del (p.Ser2297ArgfsTer15) c.4152_4153del (p.Ser1385ArgfsTer15) c.3045_3046del (p.Ser1016ArgfsTer15) n.2065+3773_2065+3774del c.7071_7072del (p.Ser2358ArgfsTer15) c.2823_2824del (p.Ser942ArgfsTer15) c.6051_6052del (p.Ser2018ArgfsTer15) | ClinVar dbSNP |
| 8 | g.99766915T>A | CA371874438 | VPS13B | c.7267T>A (p.Ser2423Thr) n.7337T>A c.*2949T>A (n.*2949T>A) c.7192T>A (p.Ser2398Thr) n.322T>A c.7264T>A (p.Ser2422Thr) c.7189T>A (p.Ser2397Thr) c.6889T>A (p.Ser2297Thr) c.4153T>A (p.Ser1385Thr) c.3046T>A (p.Ser1016Thr) n.2065+3773A>T c.7072T>A (p.Ser2358Thr) c.2824T>A (p.Ser942Thr) c.6052T>A (p.Ser2018Thr) | |
| 8 | g.99766915T>C | CA371874441 | VPS13B | c.7267T>C (p.Ser2423Pro) n.7337T>C c.*2949T>C (n.*2949T>C) c.7192T>C (p.Ser2398Pro) n.322T>C c.7264T>C (p.Ser2422Pro) c.7189T>C (p.Ser2397Pro) c.6889T>C (p.Ser2297Pro) c.4153T>C (p.Ser1385Pro) c.3046T>C (p.Ser1016Pro) n.2065+3773A>G c.7072T>C (p.Ser2358Pro) c.2824T>C (p.Ser942Pro) c.6052T>C (p.Ser2018Pro) | |
| 8 | g.99766915T>G | CA371874443 | VPS13B | c.7267T>G (p.Ser2423Ala) n.7337T>G c.*2949T>G (n.*2949T>G) c.7192T>G (p.Ser2398Ala) n.322T>G c.7264T>G (p.Ser2422Ala) c.7189T>G (p.Ser2397Ala) c.6889T>G (p.Ser2297Ala) c.4153T>G (p.Ser1385Ala) c.3046T>G (p.Ser1016Ala) n.2065+3773A>C c.7072T>G (p.Ser2358Ala) c.2824T>G (p.Ser942Ala) c.6052T>G (p.Ser2018Ala) | |
| 8 | g.99766916C>A | CA371874445 | VPS13B | c.7268C>A (p.Ser2423Ter) n.7338C>A c.*2950C>A (n.*2950C>A) c.7193C>A (p.Ser2398Ter) n.323C>A c.7265C>A (p.Ser2422Ter) c.7190C>A (p.Ser2397Ter) c.6890C>A (p.Ser2297Ter) c.4154C>A (p.Ser1385Ter) c.3047C>A (p.Ser1016Ter) n.2065+3772G>T c.7073C>A (p.Ser2358Ter) c.2825C>A (p.Ser942Ter) c.6053C>A (p.Ser2018Ter) | |
| 8 | g.99766916C>G | CA371874447 | VPS13B | c.7268C>G (p.Ser2423Ter) n.7338C>G c.*2950C>G (n.*2950C>G) c.7193C>G (p.Ser2398Ter) n.323C>G c.7265C>G (p.Ser2422Ter) c.7190C>G (p.Ser2397Ter) c.6890C>G (p.Ser2297Ter) c.4154C>G (p.Ser1385Ter) c.3047C>G (p.Ser1016Ter) n.2065+3772G>C c.7073C>G (p.Ser2358Ter) c.2825C>G (p.Ser942Ter) c.6053C>G (p.Ser2018Ter) | |
| 8 | g.99766916C>T | CA371874449 | VPS13B | c.7268C>T (p.Ser2423Leu) n.7338C>T c.*2950C>T (n.*2950C>T) c.7193C>T (p.Ser2398Leu) n.323C>T c.7265C>T (p.Ser2422Leu) c.7190C>T (p.Ser2397Leu) c.6890C>T (p.Ser2297Leu) c.4154C>T (p.Ser1385Leu) c.3047C>T (p.Ser1016Leu) n.2065+3772G>A c.7073C>T (p.Ser2358Leu) c.2825C>T (p.Ser942Leu) c.6053C>T (p.Ser2018Leu) | ClinVar gnomAD v4 |
| 8 | g.99766917A>C | CA462448998 | VPS13B | c.7269A>C (p.Ser2423=) n.7339A>C c.*2951A>C (n.*2951A>C) c.7194A>C (p.Ser2398=) n.324A>C c.7266A>C (p.Ser2422=) c.7191A>C (p.Ser2397=) c.6891A>C (p.Ser2297=) c.4155A>C (p.Ser1385=) c.3048A>C (p.Ser1016=) n.2065+3771T>G c.7074A>C (p.Ser2358=) c.2826A>C (p.Ser942=) c.6054A>C (p.Ser2018=) | |
| 8 | g.99766917A>G | CA183039789 | VPS13B | c.7269A>G (p.Ser2423=) n.7339A>G c.*2951A>G (n.*2951A>G) c.7194A>G (p.Ser2398=) n.324A>G c.7266A>G (p.Ser2422=) c.7191A>G (p.Ser2397=) c.6891A>G (p.Ser2297=) c.4155A>G (p.Ser1385=) c.3048A>G (p.Ser1016=) n.2065+3771T>C c.7074A>G (p.Ser2358=) c.2826A>G (p.Ser942=) c.6054A>G (p.Ser2018=) | dbSNP |
| 8 | g.99766917A>T | CA462448999 | VPS13B | c.7269A>T (p.Ser2423=) n.7339A>T c.*2951A>T (n.*2951A>T) c.7194A>T (p.Ser2398=) n.324A>T c.7266A>T (p.Ser2422=) c.7191A>T (p.Ser2397=) c.6891A>T (p.Ser2297=) c.4155A>T (p.Ser1385=) c.3048A>T (p.Ser1016=) n.2065+3771T>A c.7074A>T (p.Ser2358=) c.2826A>T (p.Ser942=) c.6054A>T (p.Ser2018=) | |
| 8 | g.99766918_99766919dup | CA584327772 | VPS13B | c.7270_7271dup (p.Asp2424GlufsTer8) n.7340_7341dup c.*2952_*2953dup (n.*2952_*2953dup) c.7195_7196dup (p.Asp2399GlufsTer8) n.325_326dup c.7267_7268dup (p.Asp2423GlufsTer8) c.7192_7193dup (p.Asp2398GlufsTer8) c.6892_6893dup (p.Asp2298GlufsTer8) c.4156_4157dup (p.Asp1386GlufsTer8) c.3049_3050dup (p.Asp1017GlufsTer8) n.2065+3770_2065+3771dup c.7075_7076dup (p.Asp2359GlufsTer8) c.2827_2828dup (p.Asp943GlufsTer8) c.6055_6056dup (p.Asp2019GlufsTer8) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99766918G>A | CA371874455 | VPS13B | c.7270G>A (p.Asp2424Asn) n.7340G>A c.*2952G>A (n.*2952G>A) c.7195G>A (p.Asp2399Asn) n.325G>A c.7267G>A (p.Asp2423Asn) c.7192G>A (p.Asp2398Asn) c.6892G>A (p.Asp2298Asn) c.4156G>A (p.Asp1386Asn) c.3049G>A (p.Asp1017Asn) n.2065+3770C>T c.7075G>A (p.Asp2359Asn) c.2827G>A (p.Asp943Asn) c.6055G>A (p.Asp2019Asn) | ClinVar dbSNP |
| 8 | g.99766918G>C | CA371874452 | VPS13B | c.7270G>C (p.Asp2424His) n.7340G>C c.*2952G>C (n.*2952G>C) c.7195G>C (p.Asp2399His) n.325G>C c.7267G>C (p.Asp2423His) c.7192G>C (p.Asp2398His) c.6892G>C (p.Asp2298His) c.4156G>C (p.Asp1386His) c.3049G>C (p.Asp1017His) n.2065+3770C>G c.7075G>C (p.Asp2359His) c.2827G>C (p.Asp943His) c.6055G>C (p.Asp2019His) | gnomAD v4 |
| 8 | g.99766918G>T | CA371874453 | VPS13B | c.7270G>T (p.Asp2424Tyr) n.7340G>T c.*2952G>T (n.*2952G>T) c.7195G>T (p.Asp2399Tyr) n.325G>T c.7267G>T (p.Asp2423Tyr) c.7192G>T (p.Asp2398Tyr) c.6892G>T (p.Asp2298Tyr) c.4156G>T (p.Asp1386Tyr) c.3049G>T (p.Asp1017Tyr) n.2065+3770C>A c.7075G>T (p.Asp2359Tyr) c.2827G>T (p.Asp943Tyr) c.6055G>T (p.Asp2019Tyr) | |
| 8 | g.99766919A>C | CA371874457 | VPS13B | c.7271A>C (p.Asp2424Ala) n.7341A>C c.*2953A>C (n.*2953A>C) c.7196A>C (p.Asp2399Ala) n.326A>C c.7268A>C (p.Asp2423Ala) c.7193A>C (p.Asp2398Ala) c.6893A>C (p.Asp2298Ala) c.4157A>C (p.Asp1386Ala) c.3050A>C (p.Asp1017Ala) n.2065+3769T>G c.7076A>C (p.Asp2359Ala) c.2828A>C (p.Asp943Ala) c.6056A>C (p.Asp2019Ala) | |
| 8 | g.99766919A>G | CA371874459 | VPS13B | c.7271A>G (p.Asp2424Gly) n.7341A>G c.*2953A>G (n.*2953A>G) c.7196A>G (p.Asp2399Gly) n.326A>G c.7268A>G (p.Asp2423Gly) c.7193A>G (p.Asp2398Gly) c.6893A>G (p.Asp2298Gly) c.4157A>G (p.Asp1386Gly) c.3050A>G (p.Asp1017Gly) n.2065+3769T>C c.7076A>G (p.Asp2359Gly) c.2828A>G (p.Asp943Gly) c.6056A>G (p.Asp2019Gly) | dbSNP |
| 8 | g.99766919A>T | CA371874460 | VPS13B | c.7271A>T (p.Asp2424Val) n.7341A>T c.*2953A>T (n.*2953A>T) c.7196A>T (p.Asp2399Val) n.326A>T c.7268A>T (p.Asp2423Val) c.7193A>T (p.Asp2398Val) c.6893A>T (p.Asp2298Val) c.4157A>T (p.Asp1386Val) c.3050A>T (p.Asp1017Val) n.2065+3769T>A c.7076A>T (p.Asp2359Val) c.2828A>T (p.Asp943Val) c.6056A>T (p.Asp2019Val) | |
| 8 | g.99766920T>A | CA371874462 | VPS13B | c.7272T>A (p.Asp2424Glu) n.7342T>A c.*2954T>A (n.*2954T>A) c.7197T>A (p.Asp2399Glu) n.327T>A c.7269T>A (p.Asp2423Glu) c.7194T>A (p.Asp2398Glu) c.6894T>A (p.Asp2298Glu) c.4158T>A (p.Asp1386Glu) c.3051T>A (p.Asp1017Glu) n.2065+3768A>T c.7077T>A (p.Asp2359Glu) c.2829T>A (p.Asp943Glu) c.6057T>A (p.Asp2019Glu) | |
| 8 | g.99766920T>C | CA462449000 | VPS13B | c.7272T>C (p.Asp2424=) n.7342T>C c.*2954T>C (n.*2954T>C) c.7197T>C (p.Asp2399=) n.327T>C c.7269T>C (p.Asp2423=) c.7194T>C (p.Asp2398=) c.6894T>C (p.Asp2298=) c.4158T>C (p.Asp1386=) c.3051T>C (p.Asp1017=) n.2065+3768A>G c.7077T>C (p.Asp2359=) c.2829T>C (p.Asp943=) c.6057T>C (p.Asp2019=) | |
| 8 | g.99766920T>G | CA371874464 | VPS13B | c.7272T>G (p.Asp2424Glu) n.7342T>G c.*2954T>G (n.*2954T>G) c.7197T>G (p.Asp2399Glu) n.327T>G c.7269T>G (p.Asp2423Glu) c.7194T>G (p.Asp2398Glu) c.6894T>G (p.Asp2298Glu) c.4158T>G (p.Asp1386Glu) c.3051T>G (p.Asp1017Glu) n.2065+3768A>C c.7077T>G (p.Asp2359Glu) c.2829T>G (p.Asp943Glu) c.6057T>G (p.Asp2019Glu) | |
| 8 | g.99766921C>A | CA371874465 | VPS13B | c.7273C>A (p.Leu2425Ile) n.7343C>A c.*2955C>A (n.*2955C>A) c.7198C>A (p.Leu2400Ile) n.328C>A c.7270C>A (p.Leu2424Ile) c.7195C>A (p.Leu2399Ile) c.6895C>A (p.Leu2299Ile) c.4159C>A (p.Leu1387Ile) c.3052C>A (p.Leu1018Ile) n.2065+3767G>T c.7078C>A (p.Leu2360Ile) c.2830C>A (p.Leu944Ile) c.6058C>A (p.Leu2020Ile) | |
| 8 | g.99766921C>G | CA371874467 | VPS13B | c.7273C>G (p.Leu2425Val) n.7343C>G c.*2955C>G (n.*2955C>G) c.7198C>G (p.Leu2400Val) n.328C>G c.7270C>G (p.Leu2424Val) c.7195C>G (p.Leu2399Val) c.6895C>G (p.Leu2299Val) c.4159C>G (p.Leu1387Val) c.3052C>G (p.Leu1018Val) n.2065+3767G>C c.7078C>G (p.Leu2360Val) c.2830C>G (p.Leu944Val) c.6058C>G (p.Leu2020Val) | |
| 8 | g.99766921C>T | CA371874468 | VPS13B | c.7273C>T (p.Leu2425Phe) n.7343C>T c.*2955C>T (n.*2955C>T) c.7198C>T (p.Leu2400Phe) n.328C>T c.7270C>T (p.Leu2424Phe) c.7195C>T (p.Leu2399Phe) c.6895C>T (p.Leu2299Phe) c.4159C>T (p.Leu1387Phe) c.3052C>T (p.Leu1018Phe) n.2065+3767G>A c.7078C>T (p.Leu2360Phe) c.2830C>T (p.Leu944Phe) c.6058C>T (p.Leu2020Phe) | |
| 8 | g.99766922T>A | CA371874470 | VPS13B | c.7274T>A (p.Leu2425His) n.7344T>A c.*2956T>A (n.*2956T>A) c.7199T>A (p.Leu2400His) n.329T>A c.7271T>A (p.Leu2424His) c.7196T>A (p.Leu2399His) c.6896T>A (p.Leu2299His) c.4160T>A (p.Leu1387His) c.3053T>A (p.Leu1018His) n.2065+3766A>T c.7079T>A (p.Leu2360His) c.2831T>A (p.Leu944His) c.6059T>A (p.Leu2020His) | |
| 8 | g.99766922T>C | CA371874471 | VPS13B | c.7274T>C (p.Leu2425Pro) n.7344T>C c.*2956T>C (n.*2956T>C) c.7199T>C (p.Leu2400Pro) n.329T>C c.7271T>C (p.Leu2424Pro) c.7196T>C (p.Leu2399Pro) c.6896T>C (p.Leu2299Pro) c.4160T>C (p.Leu1387Pro) c.3053T>C (p.Leu1018Pro) n.2065+3766A>G c.7079T>C (p.Leu2360Pro) c.2831T>C (p.Leu944Pro) c.6059T>C (p.Leu2020Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99766922T>G | CA371874473 | VPS13B | c.7274T>G (p.Leu2425Arg) n.7344T>G c.*2956T>G (n.*2956T>G) c.7199T>G (p.Leu2400Arg) n.329T>G c.7271T>G (p.Leu2424Arg) c.7196T>G (p.Leu2399Arg) c.6896T>G (p.Leu2299Arg) c.4160T>G (p.Leu1387Arg) c.3053T>G (p.Leu1018Arg) n.2065+3766A>C c.7079T>G (p.Leu2360Arg) c.2831T>G (p.Leu944Arg) c.6059T>G (p.Leu2020Arg) | |
| 8 | g.99766924del | CA4824164 | VPS13B | c.7276del (p.Trp2426GlyfsTer5) n.7346del c.*2958del (n.*2958del) c.7201del (p.Trp2401GlyfsTer5) n.331del c.7273del (p.Trp2425GlyfsTer5) c.7198del (p.Trp2400GlyfsTer5) c.6898del (p.Trp2300GlyfsTer5) c.4162del (p.Trp1388GlyfsTer5) c.3055del (p.Trp1019GlyfsTer5) n.2065+3766del c.7081del (p.Trp2361GlyfsTer5) c.2833del (p.Trp945GlyfsTer5) c.6061del (p.Trp2021GlyfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99766923T>A | CA462449001 | VPS13B | c.7275T>A (p.Leu2425=) n.7345T>A c.*2957T>A (n.*2957T>A) c.7200T>A (p.Leu2400=) n.330T>A c.7272T>A (p.Leu2424=) c.7197T>A (p.Leu2399=) c.6897T>A (p.Leu2299=) c.4161T>A (p.Leu1387=) c.3054T>A (p.Leu1018=) n.2065+3765A>T c.7080T>A (p.Leu2360=) c.2832T>A (p.Leu944=) c.6060T>A (p.Leu2020=) | |
| 8 | g.99766923T>C | CA462449002 | VPS13B | c.7275T>C (p.Leu2425=) n.7345T>C c.*2957T>C (n.*2957T>C) c.7200T>C (p.Leu2400=) n.330T>C c.7272T>C (p.Leu2424=) c.7197T>C (p.Leu2399=) c.6897T>C (p.Leu2299=) c.4161T>C (p.Leu1387=) c.3054T>C (p.Leu1018=) n.2065+3765A>G c.7080T>C (p.Leu2360=) c.2832T>C (p.Leu944=) c.6060T>C (p.Leu2020=) | |
| 8 | g.99766923T>G | CA4824165 | VPS13B | c.7275T>G (p.Leu2425=) n.7345T>G c.*2957T>G (n.*2957T>G) c.7200T>G (p.Leu2400=) n.330T>G c.7272T>G (p.Leu2424=) c.7197T>G (p.Leu2399=) c.6897T>G (p.Leu2299=) c.4161T>G (p.Leu1387=) c.3054T>G (p.Leu1018=) n.2065+3765A>C c.7080T>G (p.Leu2360=) c.2832T>G (p.Leu944=) c.6060T>G (p.Leu2020=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99766924T>A | CA371874479 | VPS13B | c.7276T>A (p.Trp2426Arg) n.7346T>A c.*2958T>A (n.*2958T>A) c.7201T>A (p.Trp2401Arg) n.331T>A c.7273T>A (p.Trp2425Arg) c.7198T>A (p.Trp2400Arg) c.6898T>A (p.Trp2300Arg) c.4162T>A (p.Trp1388Arg) c.3055T>A (p.Trp1019Arg) n.2065+3764A>T c.7081T>A (p.Trp2361Arg) c.2833T>A (p.Trp945Arg) c.6061T>A (p.Trp2021Arg) | |
| 8 | g.99766924T>C | CA371874476 | VPS13B | c.7276T>C (p.Trp2426Arg) n.7346T>C c.*2958T>C (n.*2958T>C) c.7201T>C (p.Trp2401Arg) n.331T>C c.7273T>C (p.Trp2425Arg) c.7198T>C (p.Trp2400Arg) c.6898T>C (p.Trp2300Arg) c.4162T>C (p.Trp1388Arg) c.3055T>C (p.Trp1019Arg) n.2065+3764A>G c.7081T>C (p.Trp2361Arg) c.2833T>C (p.Trp945Arg) c.6061T>C (p.Trp2021Arg) | |
| 8 | g.99766924T>G | CA371874477 | VPS13B | c.7276T>G (p.Trp2426Gly) n.7346T>G c.*2958T>G (n.*2958T>G) c.7201T>G (p.Trp2401Gly) n.331T>G c.7273T>G (p.Trp2425Gly) c.7198T>G (p.Trp2400Gly) c.6898T>G (p.Trp2300Gly) c.4162T>G (p.Trp1388Gly) c.3055T>G (p.Trp1019Gly) n.2065+3764A>C c.7081T>G (p.Trp2361Gly) c.2833T>G (p.Trp945Gly) c.6061T>G (p.Trp2021Gly) | |
| 8 | g.99766925G>A | CA371874480 | VPS13B | c.7277G>A (p.Trp2426Ter) n.7347G>A c.*2959G>A (n.*2959G>A) c.7202G>A (p.Trp2401Ter) n.332G>A c.7274G>A (p.Trp2425Ter) c.7199G>A (p.Trp2400Ter) c.6899G>A (p.Trp2300Ter) c.4163G>A (p.Trp1388Ter) c.3056G>A (p.Trp1019Ter) n.2065+3763C>T c.7082G>A (p.Trp2361Ter) c.2834G>A (p.Trp945Ter) c.6062G>A (p.Trp2021Ter) | |
| 8 | g.99766925G>C | CA371874482 | VPS13B | c.7277G>C (p.Trp2426Ser) n.7347G>C c.*2959G>C (n.*2959G>C) c.7202G>C (p.Trp2401Ser) n.332G>C c.7274G>C (p.Trp2425Ser) c.7199G>C (p.Trp2400Ser) c.6899G>C (p.Trp2300Ser) c.4163G>C (p.Trp1388Ser) c.3056G>C (p.Trp1019Ser) n.2065+3763C>G c.7082G>C (p.Trp2361Ser) c.2834G>C (p.Trp945Ser) c.6062G>C (p.Trp2021Ser) | |
| 8 | g.99766925G>T | CA371874483 | VPS13B | c.7277G>T (p.Trp2426Leu) n.7347G>T c.*2959G>T (n.*2959G>T) c.7202G>T (p.Trp2401Leu) n.332G>T c.7274G>T (p.Trp2425Leu) c.7199G>T (p.Trp2400Leu) c.6899G>T (p.Trp2300Leu) c.4163G>T (p.Trp1388Leu) c.3056G>T (p.Trp1019Leu) n.2065+3763C>A c.7082G>T (p.Trp2361Leu) c.2834G>T (p.Trp945Leu) c.6062G>T (p.Trp2021Leu) | dbSNP |
| 8 | g.99766926G>A | CA371874485 | VPS13B | c.7278G>A (p.Trp2426Ter) n.7348G>A c.*2960G>A (n.*2960G>A) c.7203G>A (p.Trp2401Ter) n.333G>A c.7275G>A (p.Trp2425Ter) c.7200G>A (p.Trp2400Ter) c.6900G>A (p.Trp2300Ter) c.4164G>A (p.Trp1388Ter) c.3057G>A (p.Trp1019Ter) n.2065+3762C>T c.7083G>A (p.Trp2361Ter) c.2835G>A (p.Trp945Ter) c.6063G>A (p.Trp2021Ter) | |
| 8 | g.99766926G>C | CA371874487 | VPS13B | c.7278G>C (p.Trp2426Cys) n.7348G>C c.*2960G>C (n.*2960G>C) c.7203G>C (p.Trp2401Cys) n.333G>C c.7275G>C (p.Trp2425Cys) c.7200G>C (p.Trp2400Cys) c.6900G>C (p.Trp2300Cys) c.4164G>C (p.Trp1388Cys) c.3057G>C (p.Trp1019Cys) n.2065+3762C>G c.7083G>C (p.Trp2361Cys) c.2835G>C (p.Trp945Cys) c.6063G>C (p.Trp2021Cys) | |
| 8 | g.99766926G>T | CA371874488 | VPS13B | c.7278G>T (p.Trp2426Cys) n.7348G>T c.*2960G>T (n.*2960G>T) c.7203G>T (p.Trp2401Cys) n.333G>T c.7275G>T (p.Trp2425Cys) c.7200G>T (p.Trp2400Cys) c.6900G>T (p.Trp2300Cys) c.4164G>T (p.Trp1388Cys) c.3057G>T (p.Trp1019Cys) n.2065+3762C>A c.7083G>T (p.Trp2361Cys) c.2835G>T (p.Trp945Cys) c.6063G>T (p.Trp2021Cys) | |
| 8 | g.99766927A>C | CA462449003 | VPS13B | c.7279A>C (p.Arg2427=) n.7349A>C c.*2961A>C (n.*2961A>C) c.7204A>C (p.Arg2402=) n.334A>C c.7276A>C (p.Arg2426=) c.7201A>C (p.Arg2401=) c.6901A>C (p.Arg2301=) c.4165A>C (p.Arg1389=) c.3058A>C (p.Arg1020=) n.2065+3761T>G c.7084A>C (p.Arg2362=) c.2836A>C (p.Arg946=) c.6064A>C (p.Arg2022=) |