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.99819410_99819433del | CA2688070069 | VPS13B | c.8697-2_8718del n.8767-2_8788del c.*4379-2_*4400del c.8622-2_8643del c.8694-2_8715del c.8619-2_8640del c.8319-2_8340del c.5583-2_5604del c.4476-2_4497del c.8502-2_8523del c.4254-2_4275del c.7482-2_7503del | gnomAD v4 |
| 8 | g.99819410A>C | CA371775989 | VPS13B | c.8697-2A>C (n.8697-2A>C) n.8767-2A>C c.*4379-2A>C (n.*4379-2A>C) c.8622-2A>C (n.8622-2A>C) c.8694-2A>C (n.8694-2A>C) c.8619-2A>C (n.8619-2A>C) c.8319-2A>C (n.8319-2A>C) c.5583-2A>C (n.5583-2A>C) c.4476-2A>C (n.4476-2A>C) c.8502-2A>C (n.8502-2A>C) c.4254-2A>C (n.4254-2A>C) c.7482-2A>C (n.7482-2A>C) | |
| 8 | g.99819410A>G | CA264149 | VPS13B | c.8697-2A>G (n.8697-2A>G) n.8767-2A>G c.*4379-2A>G (n.*4379-2A>G) c.8622-2A>G (n.8622-2A>G) c.8694-2A>G (n.8694-2A>G) c.8619-2A>G (n.8619-2A>G) c.8319-2A>G (n.8319-2A>G) c.5583-2A>G (n.5583-2A>G) c.4476-2A>G (n.4476-2A>G) c.8502-2A>G (n.8502-2A>G) c.4254-2A>G (n.4254-2A>G) c.7482-2A>G (n.7482-2A>G) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99819410A>T | CA371775992 | VPS13B | c.8697-2A>T (n.8697-2A>T) n.8767-2A>T c.*4379-2A>T (n.*4379-2A>T) c.8622-2A>T (n.8622-2A>T) c.8694-2A>T (n.8694-2A>T) c.8619-2A>T (n.8619-2A>T) c.8319-2A>T (n.8319-2A>T) c.5583-2A>T (n.5583-2A>T) c.4476-2A>T (n.4476-2A>T) c.8502-2A>T (n.8502-2A>T) c.4254-2A>T (n.4254-2A>T) c.7482-2A>T (n.7482-2A>T) | |
| 8 | g.99819411G>A | CA371775994 | VPS13B | c.8697-1G>A (n.8697-1G>A) n.8767-1G>A c.*4379-1G>A (n.*4379-1G>A) c.8622-1G>A (n.8622-1G>A) c.8694-1G>A (n.8694-1G>A) c.8619-1G>A (n.8619-1G>A) c.8319-1G>A (n.8319-1G>A) c.5583-1G>A (n.5583-1G>A) c.4476-1G>A (n.4476-1G>A) c.8502-1G>A (n.8502-1G>A) c.4254-1G>A (n.4254-1G>A) c.7482-1G>A (n.7482-1G>A) | |
| 8 | g.99819411G>C | CA371775996 | VPS13B | c.8697-1G>C (n.8697-1G>C) n.8767-1G>C c.*4379-1G>C (n.*4379-1G>C) c.8622-1G>C (n.8622-1G>C) c.8694-1G>C (n.8694-1G>C) c.8619-1G>C (n.8619-1G>C) c.8319-1G>C (n.8319-1G>C) c.5583-1G>C (n.5583-1G>C) c.4476-1G>C (n.4476-1G>C) c.8502-1G>C (n.8502-1G>C) c.4254-1G>C (n.4254-1G>C) c.7482-1G>C (n.7482-1G>C) | |
| 8 | g.99819411G>T | CA371775998 | VPS13B | c.8697-1G>T (n.8697-1G>T) n.8767-1G>T c.*4379-1G>T (n.*4379-1G>T) c.8622-1G>T (n.8622-1G>T) c.8694-1G>T (n.8694-1G>T) c.8619-1G>T (n.8619-1G>T) c.8319-1G>T (n.8319-1G>T) c.5583-1G>T (n.5583-1G>T) c.4476-1G>T (n.4476-1G>T) c.8502-1G>T (n.8502-1G>T) c.4254-1G>T (n.4254-1G>T) c.7482-1G>T (n.7482-1G>T) | |
| 8 | g.99819412A>C | CA371775999 | VPS13B | c.8697A>C (p.Arg2899Ser) n.8767A>C c.*4379A>C (n.*4379A>C) c.8622A>C (p.Arg2874Ser) c.8694A>C (p.Arg2898Ser) c.8619A>C (p.Arg2873Ser) c.8319A>C (p.Arg2773Ser) c.5583A>C (p.Arg1861Ser) c.4476A>C (p.Arg1492Ser) c.8502A>C (p.Arg2834Ser) c.4254A>C (p.Arg1418Ser) c.7482A>C (p.Arg2494Ser) | |
| 8 | g.99819412A>G | CA462339340 | VPS13B | c.8697A>G (p.Arg2899=) n.8767A>G c.*4379A>G (n.*4379A>G) c.8622A>G (p.Arg2874=) c.8694A>G (p.Arg2898=) c.8619A>G (p.Arg2873=) c.8319A>G (p.Arg2773=) c.5583A>G (p.Arg1861=) c.4476A>G (p.Arg1492=) c.8502A>G (p.Arg2834=) c.4254A>G (p.Arg1418=) c.7482A>G (p.Arg2494=) | |
| 8 | g.99819412A>T | CA371776000 | VPS13B | c.8697A>T (p.Arg2899Ser) n.8767A>T c.*4379A>T (n.*4379A>T) c.8622A>T (p.Arg2874Ser) c.8694A>T (p.Arg2898Ser) c.8619A>T (p.Arg2873Ser) c.8319A>T (p.Arg2773Ser) c.5583A>T (p.Arg1861Ser) c.4476A>T (p.Arg1492Ser) c.8502A>T (p.Arg2834Ser) c.4254A>T (p.Arg1418Ser) c.7482A>T (p.Arg2494Ser) | |
| 8 | g.99819413G>A | CA371776001 | VPS13B | c.8698G>A (p.Glu2900Lys) n.8768G>A c.*4380G>A (n.*4380G>A) c.8623G>A (p.Glu2875Lys) c.8695G>A (p.Glu2899Lys) c.8620G>A (p.Glu2874Lys) c.8320G>A (p.Glu2774Lys) c.5584G>A (p.Glu1862Lys) c.4477G>A (p.Glu1493Lys) c.8503G>A (p.Glu2835Lys) c.4255G>A (p.Glu1419Lys) c.7483G>A (p.Glu2495Lys) | |
| 8 | g.99819413G>C | CA371776004 | VPS13B | c.8698G>C (p.Glu2900Gln) n.8768G>C c.*4380G>C (n.*4380G>C) c.8623G>C (p.Glu2875Gln) c.8695G>C (p.Glu2899Gln) c.8620G>C (p.Glu2874Gln) c.8320G>C (p.Glu2774Gln) c.5584G>C (p.Glu1862Gln) c.4477G>C (p.Glu1493Gln) c.8503G>C (p.Glu2835Gln) c.4255G>C (p.Glu1419Gln) c.7483G>C (p.Glu2495Gln) | |
| 8 | g.99819413G>T | CA371776002 | VPS13B | c.8698G>T (p.Glu2900Ter) n.8768G>T c.*4380G>T (n.*4380G>T) c.8623G>T (p.Glu2875Ter) c.8695G>T (p.Glu2899Ter) c.8620G>T (p.Glu2874Ter) c.8320G>T (p.Glu2774Ter) c.5584G>T (p.Glu1862Ter) c.4477G>T (p.Glu1493Ter) c.8503G>T (p.Glu2835Ter) c.4255G>T (p.Glu1419Ter) c.7483G>T (p.Glu2495Ter) | |
| 8 | g.99819414A>C | CA371776006 | VPS13B | c.8699A>C (p.Glu2900Ala) n.8769A>C c.*4381A>C (n.*4381A>C) c.8624A>C (p.Glu2875Ala) c.8696A>C (p.Glu2899Ala) c.8621A>C (p.Glu2874Ala) c.8321A>C (p.Glu2774Ala) c.5585A>C (p.Glu1862Ala) c.4478A>C (p.Glu1493Ala) c.8504A>C (p.Glu2835Ala) c.4256A>C (p.Glu1419Ala) c.7484A>C (p.Glu2495Ala) | |
| 8 | g.99819414A>G | CA371776009 | VPS13B | c.8699A>G (p.Glu2900Gly) n.8769A>G c.*4381A>G (n.*4381A>G) c.8624A>G (p.Glu2875Gly) c.8696A>G (p.Glu2899Gly) c.8621A>G (p.Glu2874Gly) c.8321A>G (p.Glu2774Gly) c.5585A>G (p.Glu1862Gly) c.4478A>G (p.Glu1493Gly) c.8504A>G (p.Glu2835Gly) c.4256A>G (p.Glu1419Gly) c.7484A>G (p.Glu2495Gly) | |
| 8 | g.99819414A>T | CA371776008 | VPS13B | c.8699A>T (p.Glu2900Val) n.8769A>T c.*4381A>T (n.*4381A>T) c.8624A>T (p.Glu2875Val) c.8696A>T (p.Glu2899Val) c.8621A>T (p.Glu2874Val) c.8321A>T (p.Glu2774Val) c.5585A>T (p.Glu1862Val) c.4478A>T (p.Glu1493Val) c.8504A>T (p.Glu2835Val) c.4256A>T (p.Glu1419Val) c.7484A>T (p.Glu2495Val) | |
| 8 | g.99819415A>C | CA4824515 | VPS13B | c.8700A>C (p.Glu2900Asp) n.8770A>C c.*4382A>C (n.*4382A>C) c.8625A>C (p.Glu2875Asp) c.8697A>C (p.Glu2899Asp) c.8622A>C (p.Glu2874Asp) c.8322A>C (p.Glu2774Asp) c.5586A>C (p.Glu1862Asp) c.4479A>C (p.Glu1493Asp) c.8505A>C (p.Glu2835Asp) c.4257A>C (p.Glu1419Asp) c.7485A>C (p.Glu2495Asp) | dbSNP ExAC gnomAD v2 |
| 8 | g.99819415A>G | CA462339343 | VPS13B | c.8700A>G (p.Glu2900=) n.8770A>G c.*4382A>G (n.*4382A>G) c.8625A>G (p.Glu2875=) c.8697A>G (p.Glu2899=) c.8622A>G (p.Glu2874=) c.8322A>G (p.Glu2774=) c.5586A>G (p.Glu1862=) c.4479A>G (p.Glu1493=) c.8505A>G (p.Glu2835=) c.4257A>G (p.Glu1419=) c.7485A>G (p.Glu2495=) | ClinVar dbSNP |
| 8 | g.99819415A>T | CA371776012 | VPS13B | c.8700A>T (p.Glu2900Asp) n.8770A>T c.*4382A>T (n.*4382A>T) c.8625A>T (p.Glu2875Asp) c.8697A>T (p.Glu2899Asp) c.8622A>T (p.Glu2874Asp) c.8322A>T (p.Glu2774Asp) c.5586A>T (p.Glu1862Asp) c.4479A>T (p.Glu1493Asp) c.8505A>T (p.Glu2835Asp) c.4257A>T (p.Glu1419Asp) c.7485A>T (p.Glu2495Asp) | |
| 8 | g.99819416G>A | CA4824516 | VPS13B | c.8701G>A (p.Glu2901Lys) n.8771G>A c.*4383G>A (n.*4383G>A) c.8626G>A (p.Glu2876Lys) c.8698G>A (p.Glu2900Lys) c.8623G>A (p.Glu2875Lys) c.8323G>A (p.Glu2775Lys) c.5587G>A (p.Glu1863Lys) c.4480G>A (p.Glu1494Lys) c.8506G>A (p.Glu2836Lys) c.4258G>A (p.Glu1420Lys) c.7486G>A (p.Glu2496Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99819416G>C | CA371776015 | VPS13B | c.8701G>C (p.Glu2901Gln) n.8771G>C c.*4383G>C (n.*4383G>C) c.8626G>C (p.Glu2876Gln) c.8698G>C (p.Glu2900Gln) c.8623G>C (p.Glu2875Gln) c.8323G>C (p.Glu2775Gln) c.5587G>C (p.Glu1863Gln) c.4480G>C (p.Glu1494Gln) c.8506G>C (p.Glu2836Gln) c.4258G>C (p.Glu1420Gln) c.7486G>C (p.Glu2496Gln) | |
| 8 | g.99819416G>T | CA371776017 | VPS13B | c.8701G>T (p.Glu2901Ter) n.8771G>T c.*4383G>T (n.*4383G>T) c.8626G>T (p.Glu2876Ter) c.8698G>T (p.Glu2900Ter) c.8623G>T (p.Glu2875Ter) c.8323G>T (p.Glu2775Ter) c.5587G>T (p.Glu1863Ter) c.4480G>T (p.Glu1494Ter) c.8506G>T (p.Glu2836Ter) c.4258G>T (p.Glu1420Ter) c.7486G>T (p.Glu2496Ter) | ClinVar dbSNP |
| 8 | g.99819417A>C | CA371776025 | VPS13B | c.8702A>C (p.Glu2901Ala) n.8772A>C c.*4384A>C (n.*4384A>C) c.8627A>C (p.Glu2876Ala) c.8699A>C (p.Glu2900Ala) c.8624A>C (p.Glu2875Ala) c.8324A>C (p.Glu2775Ala) c.5588A>C (p.Glu1863Ala) c.4481A>C (p.Glu1494Ala) c.8507A>C (p.Glu2836Ala) c.4259A>C (p.Glu1420Ala) c.7487A>C (p.Glu2496Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99819417A>G | CA371776026 | VPS13B | c.8702A>G (p.Glu2901Gly) n.8772A>G c.*4384A>G (n.*4384A>G) c.8627A>G (p.Glu2876Gly) c.8699A>G (p.Glu2900Gly) c.8624A>G (p.Glu2875Gly) c.8324A>G (p.Glu2775Gly) c.5588A>G (p.Glu1863Gly) c.4481A>G (p.Glu1494Gly) c.8507A>G (p.Glu2836Gly) c.4259A>G (p.Glu1420Gly) c.7487A>G (p.Glu2496Gly) | |
| 8 | g.99819417A>T | CA371776028 | VPS13B | c.8702A>T (p.Glu2901Val) n.8772A>T c.*4384A>T (n.*4384A>T) c.8627A>T (p.Glu2876Val) c.8699A>T (p.Glu2900Val) c.8624A>T (p.Glu2875Val) c.8324A>T (p.Glu2775Val) c.5588A>T (p.Glu1863Val) c.4481A>T (p.Glu1494Val) c.8507A>T (p.Glu2836Val) c.4259A>T (p.Glu1420Val) c.7487A>T (p.Glu2496Val) | |
| 8 | g.99819418A>C | CA371776030 | VPS13B | c.8703A>C (p.Glu2901Asp) n.8773A>C c.*4385A>C (n.*4385A>C) c.8628A>C (p.Glu2876Asp) c.8700A>C (p.Glu2900Asp) c.8625A>C (p.Glu2875Asp) c.8325A>C (p.Glu2775Asp) c.5589A>C (p.Glu1863Asp) c.4482A>C (p.Glu1494Asp) c.8508A>C (p.Glu2836Asp) c.4260A>C (p.Glu1420Asp) c.7488A>C (p.Glu2496Asp) | |
| 8 | g.99819418A>G | CA462339346 | VPS13B | c.8703A>G (p.Glu2901=) n.8773A>G c.*4385A>G (n.*4385A>G) c.8628A>G (p.Glu2876=) c.8700A>G (p.Glu2900=) c.8625A>G (p.Glu2875=) c.8325A>G (p.Glu2775=) c.5589A>G (p.Glu1863=) c.4482A>G (p.Glu1494=) c.8508A>G (p.Glu2836=) c.4260A>G (p.Glu1420=) c.7488A>G (p.Glu2496=) | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.99819418A>T | CA371776032 | VPS13B | c.8703A>T (p.Glu2901Asp) n.8773A>T c.*4385A>T (n.*4385A>T) c.8628A>T (p.Glu2876Asp) c.8700A>T (p.Glu2900Asp) c.8625A>T (p.Glu2875Asp) c.8325A>T (p.Glu2775Asp) c.5589A>T (p.Glu1863Asp) c.4482A>T (p.Glu1494Asp) c.8508A>T (p.Glu2836Asp) c.4260A>T (p.Glu1420Asp) c.7488A>T (p.Glu2496Asp) | |
| 8 | g.99819419T>A | CA371776033 | VPS13B | c.8704T>A (p.Tyr2902Asn) n.8774T>A c.*4386T>A (n.*4386T>A) c.8629T>A (p.Tyr2877Asn) c.8701T>A (p.Tyr2901Asn) c.8626T>A (p.Tyr2876Asn) c.8326T>A (p.Tyr2776Asn) c.5590T>A (p.Tyr1864Asn) c.4483T>A (p.Tyr1495Asn) c.8509T>A (p.Tyr2837Asn) c.4261T>A (p.Tyr1421Asn) c.7489T>A (p.Tyr2497Asn) | |
| 8 | g.99819419T>C | CA371776034 | VPS13B | c.8704T>C (p.Tyr2902His) n.8774T>C c.*4386T>C (n.*4386T>C) c.8629T>C (p.Tyr2877His) c.8701T>C (p.Tyr2901His) c.8626T>C (p.Tyr2876His) c.8326T>C (p.Tyr2776His) c.5590T>C (p.Tyr1864His) c.4483T>C (p.Tyr1495His) c.8509T>C (p.Tyr2837His) c.4261T>C (p.Tyr1421His) c.7489T>C (p.Tyr2497His) | |
| 8 | g.99819419T>G | CA371776036 | VPS13B | c.8704T>G (p.Tyr2902Asp) n.8774T>G c.*4386T>G (n.*4386T>G) c.8629T>G (p.Tyr2877Asp) c.8701T>G (p.Tyr2901Asp) c.8626T>G (p.Tyr2876Asp) c.8326T>G (p.Tyr2776Asp) c.5590T>G (p.Tyr1864Asp) c.4483T>G (p.Tyr1495Asp) c.8509T>G (p.Tyr2837Asp) c.4261T>G (p.Tyr1421Asp) c.7489T>G (p.Tyr2497Asp) | |
| 8 | g.99819420A>C | CA371776043 | VPS13B | c.8705A>C (p.Tyr2902Ser) n.8775A>C c.*4387A>C (n.*4387A>C) c.8630A>C (p.Tyr2877Ser) c.8702A>C (p.Tyr2901Ser) c.8627A>C (p.Tyr2876Ser) c.8327A>C (p.Tyr2776Ser) c.5591A>C (p.Tyr1864Ser) c.4484A>C (p.Tyr1495Ser) c.8510A>C (p.Tyr2837Ser) c.4262A>C (p.Tyr1421Ser) c.7490A>C (p.Tyr2497Ser) | |
| 8 | g.99819420A>G | CA4824517 | VPS13B | c.8705A>G (p.Tyr2902Cys) n.8775A>G c.*4387A>G (n.*4387A>G) c.8630A>G (p.Tyr2877Cys) c.8702A>G (p.Tyr2901Cys) c.8627A>G (p.Tyr2876Cys) c.8327A>G (p.Tyr2776Cys) c.5591A>G (p.Tyr1864Cys) c.4484A>G (p.Tyr1495Cys) c.8510A>G (p.Tyr2837Cys) c.4262A>G (p.Tyr1421Cys) c.7490A>G (p.Tyr2497Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99819420A>T | CA371776045 | VPS13B | c.8705A>T (p.Tyr2902Phe) n.8775A>T c.*4387A>T (n.*4387A>T) c.8630A>T (p.Tyr2877Phe) c.8702A>T (p.Tyr2901Phe) c.8627A>T (p.Tyr2876Phe) c.8327A>T (p.Tyr2776Phe) c.5591A>T (p.Tyr1864Phe) c.4484A>T (p.Tyr1495Phe) c.8510A>T (p.Tyr2837Phe) c.4262A>T (p.Tyr1421Phe) c.7490A>T (p.Tyr2497Phe) | |
| 8 | g.99819421T>A | CA371776048 | VPS13B | c.8706T>A (p.Tyr2902Ter) n.8776T>A c.*4388T>A (n.*4388T>A) c.8631T>A (p.Tyr2877Ter) c.8703T>A (p.Tyr2901Ter) c.8628T>A (p.Tyr2876Ter) c.8328T>A (p.Tyr2776Ter) c.5592T>A (p.Tyr1864Ter) c.4485T>A (p.Tyr1495Ter) c.8511T>A (p.Tyr2837Ter) c.4263T>A (p.Tyr1421Ter) c.7491T>A (p.Tyr2497Ter) | |
| 8 | g.99819421T>C | CA462339348 | VPS13B | c.8706T>C (p.Tyr2902=) n.8776T>C c.*4388T>C (n.*4388T>C) c.8631T>C (p.Tyr2877=) c.8703T>C (p.Tyr2901=) c.8628T>C (p.Tyr2876=) c.8328T>C (p.Tyr2776=) c.5592T>C (p.Tyr1864=) c.4485T>C (p.Tyr1495=) c.8511T>C (p.Tyr2837=) c.4263T>C (p.Tyr1421=) c.7491T>C (p.Tyr2497=) | ClinVar dbSNP |
| 8 | g.99819421T>G | CA371776050 | VPS13B | c.8706T>G (p.Tyr2902Ter) n.8776T>G c.*4388T>G (n.*4388T>G) c.8631T>G (p.Tyr2877Ter) c.8703T>G (p.Tyr2901Ter) c.8628T>G (p.Tyr2876Ter) c.8328T>G (p.Tyr2776Ter) c.5592T>G (p.Tyr1864Ter) c.4485T>G (p.Tyr1495Ter) c.8511T>G (p.Tyr2837Ter) c.4263T>G (p.Tyr1421Ter) c.7491T>G (p.Tyr2497Ter) | |
| 8 | g.99819422G>A | CA371776057 | VPS13B | c.8707G>A (p.Asp2903Asn) n.8777G>A c.*4389G>A (n.*4389G>A) c.8632G>A (p.Asp2878Asn) c.8704G>A (p.Asp2902Asn) c.8629G>A (p.Asp2877Asn) c.8329G>A (p.Asp2777Asn) c.5593G>A (p.Asp1865Asn) c.4486G>A (p.Asp1496Asn) c.8512G>A (p.Asp2838Asn) c.4264G>A (p.Asp1422Asn) c.7492G>A (p.Asp2498Asn) | |
| 8 | g.99819422G>C | CA371776058 | VPS13B | c.8707G>C (p.Asp2903His) n.8777G>C c.*4389G>C (n.*4389G>C) c.8632G>C (p.Asp2878His) c.8704G>C (p.Asp2902His) c.8629G>C (p.Asp2877His) c.8329G>C (p.Asp2777His) c.5593G>C (p.Asp1865His) c.4486G>C (p.Asp1496His) c.8512G>C (p.Asp2838His) c.4264G>C (p.Asp1422His) c.7492G>C (p.Asp2498His) | |
| 8 | g.99819422G>T | CA371776060 | VPS13B | c.8707G>T (p.Asp2903Tyr) n.8777G>T c.*4389G>T (n.*4389G>T) c.8632G>T (p.Asp2878Tyr) c.8704G>T (p.Asp2902Tyr) c.8629G>T (p.Asp2877Tyr) c.8329G>T (p.Asp2777Tyr) c.5593G>T (p.Asp1865Tyr) c.4486G>T (p.Asp1496Tyr) c.8512G>T (p.Asp2838Tyr) c.4264G>T (p.Asp1422Tyr) c.7492G>T (p.Asp2498Tyr) | |
| 8 | g.99819423A>C | CA371776063 | VPS13B | c.8708A>C (p.Asp2903Ala) n.8778A>C c.*4390A>C (n.*4390A>C) c.8633A>C (p.Asp2878Ala) c.8705A>C (p.Asp2902Ala) c.8630A>C (p.Asp2877Ala) c.8330A>C (p.Asp2777Ala) c.5594A>C (p.Asp1865Ala) c.4487A>C (p.Asp1496Ala) c.8513A>C (p.Asp2838Ala) c.4265A>C (p.Asp1422Ala) c.7493A>C (p.Asp2498Ala) | |
| 8 | g.99819423A>G | CA371776067 | VPS13B | c.8708A>G (p.Asp2903Gly) n.8778A>G c.*4390A>G (n.*4390A>G) c.8633A>G (p.Asp2878Gly) c.8705A>G (p.Asp2902Gly) c.8630A>G (p.Asp2877Gly) c.8330A>G (p.Asp2777Gly) c.5594A>G (p.Asp1865Gly) c.4487A>G (p.Asp1496Gly) c.8513A>G (p.Asp2838Gly) c.4265A>G (p.Asp1422Gly) c.7493A>G (p.Asp2498Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99819423A>T | CA371776069 | VPS13B | c.8708A>T (p.Asp2903Val) n.8778A>T c.*4390A>T (n.*4390A>T) c.8633A>T (p.Asp2878Val) c.8705A>T (p.Asp2902Val) c.8630A>T (p.Asp2877Val) c.8330A>T (p.Asp2777Val) c.5594A>T (p.Asp1865Val) c.4487A>T (p.Asp1496Val) c.8513A>T (p.Asp2838Val) c.4265A>T (p.Asp1422Val) c.7493A>T (p.Asp2498Val) | ClinVar dbSNP |
| 8 | g.99819424T>A | CA371776071 | VPS13B | c.8709T>A (p.Asp2903Glu) n.8779T>A c.*4391T>A (n.*4391T>A) c.8634T>A (p.Asp2878Glu) c.8706T>A (p.Asp2902Glu) c.8631T>A (p.Asp2877Glu) c.8331T>A (p.Asp2777Glu) c.5595T>A (p.Asp1865Glu) c.4488T>A (p.Asp1496Glu) c.8514T>A (p.Asp2838Glu) c.4266T>A (p.Asp1422Glu) c.7494T>A (p.Asp2498Glu) | |
| 8 | g.99819424T>C | CA462339352 | VPS13B | c.8709T>C (p.Asp2903=) n.8779T>C c.*4391T>C (n.*4391T>C) c.8634T>C (p.Asp2878=) c.8706T>C (p.Asp2902=) c.8631T>C (p.Asp2877=) c.8331T>C (p.Asp2777=) c.5595T>C (p.Asp1865=) c.4488T>C (p.Asp1496=) c.8514T>C (p.Asp2838=) c.4266T>C (p.Asp1422=) c.7494T>C (p.Asp2498=) | dbSNP gnomAD v4 |
| 8 | g.99819424T>G | CA371776072 | VPS13B | c.8709T>G (p.Asp2903Glu) n.8779T>G c.*4391T>G (n.*4391T>G) c.8634T>G (p.Asp2878Glu) c.8706T>G (p.Asp2902Glu) c.8631T>G (p.Asp2877Glu) c.8331T>G (p.Asp2777Glu) c.5595T>G (p.Asp1865Glu) c.4488T>G (p.Asp1496Glu) c.8514T>G (p.Asp2838Glu) c.4266T>G (p.Asp1422Glu) c.7494T>G (p.Asp2498Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99819425C>A | CA371776078 | VPS13B | c.8710C>A (p.Pro2904Thr) n.8780C>A c.*4392C>A (n.*4392C>A) c.8635C>A (p.Pro2879Thr) c.8707C>A (p.Pro2903Thr) c.8632C>A (p.Pro2878Thr) c.8332C>A (p.Pro2778Thr) c.5596C>A (p.Pro1866Thr) c.4489C>A (p.Pro1497Thr) c.8515C>A (p.Pro2839Thr) c.4267C>A (p.Pro1423Thr) c.7495C>A (p.Pro2499Thr) | COSMIC COSMIC |
| 8 | g.99819425C>G | CA371776077 | VPS13B | c.8710C>G (p.Pro2904Ala) n.8780C>G c.*4392C>G (n.*4392C>G) c.8635C>G (p.Pro2879Ala) c.8707C>G (p.Pro2903Ala) c.8632C>G (p.Pro2878Ala) c.8332C>G (p.Pro2778Ala) c.5596C>G (p.Pro1866Ala) c.4489C>G (p.Pro1497Ala) c.8515C>G (p.Pro2839Ala) c.4267C>G (p.Pro1423Ala) c.7495C>G (p.Pro2499Ala) | |
| 8 | g.99819425C>T | CA371776075 | VPS13B | c.8710C>T (p.Pro2904Ser) n.8780C>T c.*4392C>T (n.*4392C>T) c.8635C>T (p.Pro2879Ser) c.8707C>T (p.Pro2903Ser) c.8632C>T (p.Pro2878Ser) c.8332C>T (p.Pro2778Ser) c.5596C>T (p.Pro1866Ser) c.4489C>T (p.Pro1497Ser) c.8515C>T (p.Pro2839Ser) c.4267C>T (p.Pro1423Ser) c.7495C>T (p.Pro2499Ser) | |
| 8 | g.99819426C>A | CA371776085 | VPS13B | c.8711C>A (p.Pro2904His) n.8781C>A c.*4393C>A (n.*4393C>A) c.8636C>A (p.Pro2879His) c.8708C>A (p.Pro2903His) c.8633C>A (p.Pro2878His) c.8333C>A (p.Pro2778His) c.5597C>A (p.Pro1866His) c.4490C>A (p.Pro1497His) c.8516C>A (p.Pro2839His) c.4268C>A (p.Pro1423His) c.7496C>A (p.Pro2499His) |