Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99819410_99819433delCA2688070069VPS13Bc.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
8g.99819414A>CCA371776006VPS13Bc.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)
8g.99819414A>GCA371776009VPS13Bc.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)
8g.99819414A>TCA371776008VPS13Bc.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)
8g.99819415A>CCA4824515VPS13Bc.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
8g.99819415A>GCA462339343VPS13Bc.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
8g.99819415A>TCA371776012VPS13Bc.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)
8g.99819416G>ACA4824516VPS13Bc.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
8g.99819416G>CCA371776015VPS13Bc.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)
8g.99819416G>TCA371776017VPS13Bc.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
8g.99819417A>CCA371776025VPS13Bc.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
8g.99819417A>GCA371776026VPS13Bc.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)
8g.99819417A>TCA371776028VPS13Bc.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)
8g.99819418A>CCA371776030VPS13Bc.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)
8g.99819418A>GCA462339346VPS13Bc.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
8g.99819418A>TCA371776032VPS13Bc.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)
8g.99819419T>ACA371776033VPS13Bc.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)
8g.99819419T>CCA371776034VPS13Bc.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)
8g.99819419T>GCA371776036VPS13Bc.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)
8g.99819420A>CCA371776043VPS13Bc.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)
8g.99819420A>GCA4824517VPS13Bc.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
8g.99819420A>TCA371776045VPS13Bc.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)
8g.99819421T>ACA371776048VPS13Bc.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)
8g.99819421T>CCA462339348VPS13Bc.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
8g.99819421T>GCA371776050VPS13Bc.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)
8g.99819422G>ACA371776057VPS13Bc.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)
8g.99819422G>CCA371776058VPS13Bc.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)
8g.99819422G>TCA371776060VPS13Bc.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)
8g.99819423A>CCA371776063VPS13Bc.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)
8g.99819423A>GCA371776067VPS13Bc.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
8g.99819423A>TCA371776069VPS13Bc.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
8g.99819424T>ACA371776071VPS13Bc.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)
8g.99819424T>CCA462339352VPS13Bc.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
8g.99819424T>GCA371776072VPS13Bc.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
8g.99819425C>ACA371776078VPS13Bc.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
8g.99819425C>GCA371776077VPS13Bc.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)
8g.99819425C>TCA371776075VPS13Bc.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)
8g.99819426C>ACA371776085VPS13Bc.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)
8g.99819426C>GCA371776081VPS13Bc.8711C>G (p.Pro2904Arg)
n.8781C>G
c.*4393C>G (n.*4393C>G)
c.8636C>G (p.Pro2879Arg)
c.8708C>G (p.Pro2903Arg)
c.8633C>G (p.Pro2878Arg)
c.8333C>G (p.Pro2778Arg)
c.5597C>G (p.Pro1866Arg)
c.4490C>G (p.Pro1497Arg)
c.8516C>G (p.Pro2839Arg)
c.4268C>G (p.Pro1423Arg)
c.7496C>G (p.Pro2499Arg)
 gnomAD v4
8g.99819426C>TCA371776083VPS13Bc.8711C>T (p.Pro2904Leu)
n.8781C>T
c.*4393C>T (n.*4393C>T)
c.8636C>T (p.Pro2879Leu)
c.8708C>T (p.Pro2903Leu)
c.8633C>T (p.Pro2878Leu)
c.8333C>T (p.Pro2778Leu)
c.5597C>T (p.Pro1866Leu)
c.4490C>T (p.Pro1497Leu)
c.8516C>T (p.Pro2839Leu)
c.4268C>T (p.Pro1423Leu)
c.7496C>T (p.Pro2499Leu)
8g.99819427T>ACA462339354VPS13Bc.8712T>A (p.Pro2904=)
n.8782T>A
c.*4394T>A (n.*4394T>A)
c.8637T>A (p.Pro2879=)
c.8709T>A (p.Pro2903=)
c.8634T>A (p.Pro2878=)
c.8334T>A (p.Pro2778=)
c.5598T>A (p.Pro1866=)
c.4491T>A (p.Pro1497=)
c.8517T>A (p.Pro2839=)
c.4269T>A (p.Pro1423=)
c.7497T>A (p.Pro2499=)
8g.99819427T>CCA462339356VPS13Bc.8712T>C (p.Pro2904=)
n.8782T>C
c.*4394T>C (n.*4394T>C)
c.8637T>C (p.Pro2879=)
c.8709T>C (p.Pro2903=)
c.8634T>C (p.Pro2878=)
c.8334T>C (p.Pro2778=)
c.5598T>C (p.Pro1866=)
c.4491T>C (p.Pro1497=)
c.8517T>C (p.Pro2839=)
c.4269T>C (p.Pro1423=)
c.7497T>C (p.Pro2499=)
8g.99819427T>GCA4824518VPS13Bc.8712T>G (p.Pro2904=)
n.8782T>G
c.*4394T>G (n.*4394T>G)
c.8637T>G (p.Pro2879=)
c.8709T>G (p.Pro2903=)
c.8634T>G (p.Pro2878=)
c.8334T>G (p.Pro2778=)
c.5598T>G (p.Pro1866=)
c.4491T>G (p.Pro1497=)
c.8517T>G (p.Pro2839=)
c.4269T>G (p.Pro1423=)
c.7497T>G (p.Pro2499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819428T>ACA371776088VPS13Bc.8713T>A (p.Ser2905Thr)
n.8783T>A
c.*4395T>A (n.*4395T>A)
c.8638T>A (p.Ser2880Thr)
c.8710T>A (p.Ser2904Thr)
c.8635T>A (p.Ser2879Thr)
c.8335T>A (p.Ser2779Thr)
c.5599T>A (p.Ser1867Thr)
c.4492T>A (p.Ser1498Thr)
c.8518T>A (p.Ser2840Thr)
c.4270T>A (p.Ser1424Thr)
c.7498T>A (p.Ser2500Thr)
8g.99819428T>CCA371776090VPS13Bc.8713T>C (p.Ser2905Pro)
n.8783T>C
c.*4395T>C (n.*4395T>C)
c.8638T>C (p.Ser2880Pro)
c.8710T>C (p.Ser2904Pro)
c.8635T>C (p.Ser2879Pro)
c.8335T>C (p.Ser2779Pro)
c.5599T>C (p.Ser1867Pro)
c.4492T>C (p.Ser1498Pro)
c.8518T>C (p.Ser2840Pro)
c.4270T>C (p.Ser1424Pro)
c.7498T>C (p.Ser2500Pro)
8g.99819428T>GCA371776092VPS13Bc.8713T>G (p.Ser2905Ala)
n.8783T>G
c.*4395T>G (n.*4395T>G)
c.8638T>G (p.Ser2880Ala)
c.8710T>G (p.Ser2904Ala)
c.8635T>G (p.Ser2879Ala)
c.8335T>G (p.Ser2779Ala)
c.5599T>G (p.Ser1867Ala)
c.4492T>G (p.Ser1498Ala)
c.8518T>G (p.Ser2840Ala)
c.4270T>G (p.Ser1424Ala)
c.7498T>G (p.Ser2500Ala)
8g.99819429C>ACA371776094VPS13Bc.8714C>A (p.Ser2905Ter)
n.8784C>A
c.*4396C>A (n.*4396C>A)
c.8639C>A (p.Ser2880Ter)
c.8711C>A (p.Ser2904Ter)
c.8636C>A (p.Ser2879Ter)
c.8336C>A (p.Ser2779Ter)
c.5600C>A (p.Ser1867Ter)
c.4493C>A (p.Ser1498Ter)
c.8519C>A (p.Ser2840Ter)
c.4271C>A (p.Ser1424Ter)
c.7499C>A (p.Ser2500Ter)
8g.99819429C>GCA371776095VPS13Bc.8714C>G (p.Ser2905Ter)
n.8784C>G
c.*4396C>G (n.*4396C>G)
c.8639C>G (p.Ser2880Ter)
c.8711C>G (p.Ser2904Ter)
c.8636C>G (p.Ser2879Ter)
c.8336C>G (p.Ser2779Ter)
c.5600C>G (p.Ser1867Ter)
c.4493C>G (p.Ser1498Ter)
c.8519C>G (p.Ser2840Ter)
c.4271C>G (p.Ser1424Ter)
c.7499C>G (p.Ser2500Ter)
8g.99819429C>TCA4824519VPS13Bc.8714C>T (p.Ser2905Leu)
n.8784C>T
c.*4396C>T (n.*4396C>T)
c.8639C>T (p.Ser2880Leu)
c.8711C>T (p.Ser2904Leu)
c.8636C>T (p.Ser2879Leu)
c.8336C>T (p.Ser2779Leu)
c.5600C>T (p.Ser1867Leu)
c.4493C>T (p.Ser1498Leu)
c.8519C>T (p.Ser2840Leu)
c.4271C>T (p.Ser1424Leu)
c.7499C>T (p.Ser2500Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819430A>CCA462339363VPS13Bc.8715A>C (p.Ser2905=)
n.8785A>C
c.*4397A>C (n.*4397A>C)
c.8640A>C (p.Ser2880=)
c.8712A>C (p.Ser2904=)
c.8637A>C (p.Ser2879=)
c.8337A>C (p.Ser2779=)
c.5601A>C (p.Ser1867=)
c.4494A>C (p.Ser1498=)
c.8520A>C (p.Ser2840=)
c.4272A>C (p.Ser1424=)
c.7500A>C (p.Ser2500=)
8g.99819430A>GCA462339364VPS13Bc.8715A>G (p.Ser2905=)
n.8785A>G
c.*4397A>G (n.*4397A>G)
c.8640A>G (p.Ser2880=)
c.8712A>G (p.Ser2904=)
c.8637A>G (p.Ser2879=)
c.8337A>G (p.Ser2779=)
c.5601A>G (p.Ser1867=)
c.4494A>G (p.Ser1498=)
c.8520A>G (p.Ser2840=)
c.4272A>G (p.Ser1424=)
c.7500A>G (p.Ser2500=)
8g.99819430A>TCA462339362VPS13Bc.8715A>T (p.Ser2905=)
n.8785A>T
c.*4397A>T (n.*4397A>T)
c.8640A>T (p.Ser2880=)
c.8712A>T (p.Ser2904=)
c.8637A>T (p.Ser2879=)
c.8337A>T (p.Ser2779=)
c.5601A>T (p.Ser1867=)
c.4494A>T (p.Ser1498=)
c.8520A>T (p.Ser2840=)
c.4272A>T (p.Ser1424=)
c.7500A>T (p.Ser2500=)
8g.99819431G>ACA371776096VPS13Bc.8716G>A (p.Asp2906Asn)
n.8786G>A
c.*4398G>A (n.*4398G>A)
c.8641G>A (p.Asp2881Asn)
c.8713G>A (p.Asp2905Asn)
c.8638G>A (p.Asp2880Asn)
c.8338G>A (p.Asp2780Asn)
c.5602G>A (p.Asp1868Asn)
c.4495G>A (p.Asp1499Asn)
c.8521G>A (p.Asp2841Asn)
c.4273G>A (p.Asp1425Asn)
c.7501G>A (p.Asp2501Asn)
8g.99819431G>CCA371776097VPS13Bc.8716G>C (p.Asp2906His)
n.8786G>C
c.*4398G>C (n.*4398G>C)
c.8641G>C (p.Asp2881His)
c.8713G>C (p.Asp2905His)
c.8638G>C (p.Asp2880His)
c.8338G>C (p.Asp2780His)
c.5602G>C (p.Asp1868His)
c.4495G>C (p.Asp1499His)
c.8521G>C (p.Asp2841His)
c.4273G>C (p.Asp1425His)
c.7501G>C (p.Asp2501His)
8g.99819431G>TCA371776099VPS13Bc.8716G>T (p.Asp2906Tyr)
n.8786G>T
c.*4398G>T (n.*4398G>T)
c.8641G>T (p.Asp2881Tyr)
c.8713G>T (p.Asp2905Tyr)
c.8638G>T (p.Asp2880Tyr)
c.8338G>T (p.Asp2780Tyr)
c.5602G>T (p.Asp1868Tyr)
c.4495G>T (p.Asp1499Tyr)
c.8521G>T (p.Asp2841Tyr)
c.4273G>T (p.Asp1425Tyr)
c.7501G>T (p.Asp2501Tyr)
8g.99819431_99819432insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACATCA2521998165VPS13Bc.8716_8717insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp2906delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
n.8786_8787insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT
c.*4398_*4399insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (n.*4398_*4399insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT)
c.8641_8642insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp2881delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.8713_8714insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp2905delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.8638_8639insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp2880delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.8338_8339insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp2780delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.5602_5603insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp1868delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.4495_4496insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp1499delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.8521_8522insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp2841delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.4273_4274insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp1425delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
c.7501_7502insTTGCTAAAGAAAAAATCCTGACTAATGTACACACACACACACACACACACACACACACACACACACACACAT (p.Asp2501delinsValAlaLysGluLysIleLeuThrAsnValHisThrHisThrHisThrHisThrHisThrHisThrHisThrTyr)
8g.99819432A>CCA371776105VPS13Bc.8717A>C (p.Asp2906Ala)
n.8787A>C
c.*4399A>C (n.*4399A>C)
c.8642A>C (p.Asp2881Ala)
c.8714A>C (p.Asp2905Ala)
c.8639A>C (p.Asp2880Ala)
c.8339A>C (p.Asp2780Ala)
c.5603A>C (p.Asp1868Ala)
c.4496A>C (p.Asp1499Ala)
c.8522A>C (p.Asp2841Ala)
c.4274A>C (p.Asp1425Ala)
c.7502A>C (p.Asp2501Ala)
8g.99819432A>GCA371776103VPS13Bc.8717A>G (p.Asp2906Gly)
n.8787A>G
c.*4399A>G (n.*4399A>G)
c.8642A>G (p.Asp2881Gly)
c.8714A>G (p.Asp2905Gly)
c.8639A>G (p.Asp2880Gly)
c.8339A>G (p.Asp2780Gly)
c.5603A>G (p.Asp1868Gly)
c.4496A>G (p.Asp1499Gly)
c.8522A>G (p.Asp2841Gly)
c.4274A>G (p.Asp1425Gly)
c.7502A>G (p.Asp2501Gly)
8g.99819432A>TCA371776101VPS13Bc.8717A>T (p.Asp2906Val)
n.8787A>T
c.*4399A>T (n.*4399A>T)
c.8642A>T (p.Asp2881Val)
c.8714A>T (p.Asp2905Val)
c.8639A>T (p.Asp2880Val)
c.8339A>T (p.Asp2780Val)
c.5603A>T (p.Asp1868Val)
c.4496A>T (p.Asp1499Val)
c.8522A>T (p.Asp2841Val)
c.4274A>T (p.Asp1425Val)
c.7502A>T (p.Asp2501Val)
 gnomAD v4
8g.99819433T>ACA371776106VPS13Bc.8718T>A (p.Asp2906Glu)
n.8788T>A
c.*4400T>A (n.*4400T>A)
c.8643T>A (p.Asp2881Glu)
c.8715T>A (p.Asp2905Glu)
c.8640T>A (p.Asp2880Glu)
c.8340T>A (p.Asp2780Glu)
c.5604T>A (p.Asp1868Glu)
c.4497T>A (p.Asp1499Glu)
c.8523T>A (p.Asp2841Glu)
c.4275T>A (p.Asp1425Glu)
c.7503T>A (p.Asp2501Glu)
8g.99819433T>CCA462339367VPS13Bc.8718T>C (p.Asp2906=)
n.8788T>C
c.*4400T>C (n.*4400T>C)
c.8643T>C (p.Asp2881=)
c.8715T>C (p.Asp2905=)
c.8640T>C (p.Asp2880=)
c.8340T>C (p.Asp2780=)
c.5604T>C (p.Asp1868=)
c.4497T>C (p.Asp1499=)
c.8523T>C (p.Asp2841=)
c.4275T>C (p.Asp1425=)
c.7503T>C (p.Asp2501=)
 ClinVar dbSNP gnomAD v4
8g.99819433T>GCA371776107VPS13Bc.8718T>G (p.Asp2906Glu)
n.8788T>G
c.*4400T>G (n.*4400T>G)
c.8643T>G (p.Asp2881Glu)
c.8715T>G (p.Asp2905Glu)
c.8640T>G (p.Asp2880Glu)
c.8340T>G (p.Asp2780Glu)
c.5604T>G (p.Asp1868Glu)
c.4497T>G (p.Asp1499Glu)
c.8523T>G (p.Asp2841Glu)
c.4275T>G (p.Asp1425Glu)
c.7503T>G (p.Asp2501Glu)
8g.99819434T>ACA371776109VPS13Bc.8719T>A (p.Cys2907Ser)
n.8789T>A
c.*4401T>A (n.*4401T>A)
c.8644T>A (p.Cys2882Ser)
c.8716T>A (p.Cys2906Ser)
c.8641T>A (p.Cys2881Ser)
c.8341T>A (p.Cys2781Ser)
c.5605T>A (p.Cys1869Ser)
c.4498T>A (p.Cys1500Ser)
c.8524T>A (p.Cys2842Ser)
c.4276T>A (p.Cys1426Ser)
c.7504T>A (p.Cys2502Ser)
8g.99819434T>CCA371776110VPS13Bc.8719T>C (p.Cys2907Arg)
n.8789T>C
c.*4401T>C (n.*4401T>C)
c.8644T>C (p.Cys2882Arg)
c.8716T>C (p.Cys2906Arg)
c.8641T>C (p.Cys2881Arg)
c.8341T>C (p.Cys2781Arg)
c.5605T>C (p.Cys1869Arg)
c.4498T>C (p.Cys1500Arg)
c.8524T>C (p.Cys2842Arg)
c.4276T>C (p.Cys1426Arg)
c.7504T>C (p.Cys2502Arg)
8g.99819434T>GCA371776112VPS13Bc.8719T>G (p.Cys2907Gly)
n.8789T>G
c.*4401T>G (n.*4401T>G)
c.8644T>G (p.Cys2882Gly)
c.8716T>G (p.Cys2906Gly)
c.8641T>G (p.Cys2881Gly)
c.8341T>G (p.Cys2781Gly)
c.5605T>G (p.Cys1869Gly)
c.4498T>G (p.Cys1500Gly)
c.8524T>G (p.Cys2842Gly)
c.4276T>G (p.Cys1426Gly)
c.7504T>G (p.Cys2502Gly)
8g.99819435G>ACA371776114VPS13Bc.8720G>A (p.Cys2907Tyr)
n.8790G>A
c.*4402G>A (n.*4402G>A)
c.8645G>A (p.Cys2882Tyr)
c.8717G>A (p.Cys2906Tyr)
c.8642G>A (p.Cys2881Tyr)
c.8342G>A (p.Cys2781Tyr)
c.5606G>A (p.Cys1869Tyr)
c.4499G>A (p.Cys1500Tyr)
c.8525G>A (p.Cys2842Tyr)
c.4277G>A (p.Cys1426Tyr)
c.7505G>A (p.Cys2502Tyr)
8g.99819435G>CCA371776115VPS13Bc.8720G>C (p.Cys2907Ser)
n.8790G>C
c.*4402G>C (n.*4402G>C)
c.8645G>C (p.Cys2882Ser)
c.8717G>C (p.Cys2906Ser)
c.8642G>C (p.Cys2881Ser)
c.8342G>C (p.Cys2781Ser)
c.5606G>C (p.Cys1869Ser)
c.4499G>C (p.Cys1500Ser)
c.8525G>C (p.Cys2842Ser)
c.4277G>C (p.Cys1426Ser)
c.7505G>C (p.Cys2502Ser)
8g.99819435G>TCA182328627VPS13Bc.8720G>T (p.Cys2907Phe)
n.8790G>T
c.*4402G>T (n.*4402G>T)
c.8645G>T (p.Cys2882Phe)
c.8717G>T (p.Cys2906Phe)
c.8642G>T (p.Cys2881Phe)
c.8342G>T (p.Cys2781Phe)
c.5606G>T (p.Cys1869Phe)
c.4499G>T (p.Cys1500Phe)
c.8525G>T (p.Cys2842Phe)
c.4277G>T (p.Cys1426Phe)
c.7505G>T (p.Cys2502Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819436T>ACA371776116VPS13Bc.8721T>A (p.Cys2907Ter)
n.8791T>A
c.*4403T>A (n.*4403T>A)
c.8646T>A (p.Cys2882Ter)
c.8718T>A (p.Cys2906Ter)
c.8643T>A (p.Cys2881Ter)
c.8343T>A (p.Cys2781Ter)
c.5607T>A (p.Cys1869Ter)
c.4500T>A (p.Cys1500Ter)
c.8526T>A (p.Cys2842Ter)
c.4278T>A (p.Cys1426Ter)
c.7506T>A (p.Cys2502Ter)
8g.99819436T>CCA462339370VPS13Bc.8721T>C (p.Cys2907=)
n.8791T>C
c.*4403T>C (n.*4403T>C)
c.8646T>C (p.Cys2882=)
c.8718T>C (p.Cys2906=)
c.8643T>C (p.Cys2881=)
c.8343T>C (p.Cys2781=)
c.5607T>C (p.Cys1869=)
c.4500T>C (p.Cys1500=)
c.8526T>C (p.Cys2842=)
c.4278T>C (p.Cys1426=)
c.7506T>C (p.Cys2502=)
 ClinVar gnomAD v4
8g.99819436T>GCA371776117VPS13Bc.8721T>G (p.Cys2907Trp)
n.8791T>G
c.*4403T>G (n.*4403T>G)
c.8646T>G (p.Cys2882Trp)
c.8718T>G (p.Cys2906Trp)
c.8643T>G (p.Cys2881Trp)
c.8343T>G (p.Cys2781Trp)
c.5607T>G (p.Cys1869Trp)
c.4500T>G (p.Cys1500Trp)
c.8526T>G (p.Cys2842Trp)
c.4278T>G (p.Cys1426Trp)
c.7506T>G (p.Cys2502Trp)
8g.99819437G>ACA371776118VPS13Bc.8722G>A (p.Ala2908Thr)
n.8792G>A
c.*4404G>A (n.*4404G>A)
c.8647G>A (p.Ala2883Thr)
c.8719G>A (p.Ala2907Thr)
c.8644G>A (p.Ala2882Thr)
c.8344G>A (p.Ala2782Thr)
c.5608G>A (p.Ala1870Thr)
c.4501G>A (p.Ala1501Thr)
c.8527G>A (p.Ala2843Thr)
c.4279G>A (p.Ala1427Thr)
c.7507G>A (p.Ala2503Thr)
8g.99819437G>CCA371776119VPS13Bc.8722G>C (p.Ala2908Pro)
n.8792G>C
c.*4404G>C (n.*4404G>C)
c.8647G>C (p.Ala2883Pro)
c.8719G>C (p.Ala2907Pro)
c.8644G>C (p.Ala2882Pro)
c.8344G>C (p.Ala2782Pro)
c.5608G>C (p.Ala1870Pro)
c.4501G>C (p.Ala1501Pro)
c.8527G>C (p.Ala2843Pro)
c.4279G>C (p.Ala1427Pro)
c.7507G>C (p.Ala2503Pro)
8g.99819437G>TCA371776120VPS13Bc.8722G>T (p.Ala2908Ser)
n.8792G>T
c.*4404G>T (n.*4404G>T)
c.8647G>T (p.Ala2883Ser)
c.8719G>T (p.Ala2907Ser)
c.8644G>T (p.Ala2882Ser)
c.8344G>T (p.Ala2782Ser)
c.5608G>T (p.Ala1870Ser)
c.4501G>T (p.Ala1501Ser)
c.8527G>T (p.Ala2843Ser)
c.4279G>T (p.Ala1427Ser)
c.7507G>T (p.Ala2503Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819438C>ACA371776121VPS13Bc.8723C>A (p.Ala2908Glu)
n.8793C>A
c.*4405C>A (n.*4405C>A)
c.8648C>A (p.Ala2883Glu)
c.8720C>A (p.Ala2907Glu)
c.8645C>A (p.Ala2882Glu)
c.8345C>A (p.Ala2782Glu)
c.5609C>A (p.Ala1870Glu)
c.4502C>A (p.Ala1501Glu)
c.8528C>A (p.Ala2843Glu)
c.4280C>A (p.Ala1427Glu)
c.7508C>A (p.Ala2503Glu)
8g.99819438C>GCA371776122VPS13Bc.8723C>G (p.Ala2908Gly)
n.8793C>G
c.*4405C>G (n.*4405C>G)
c.8648C>G (p.Ala2883Gly)
c.8720C>G (p.Ala2907Gly)
c.8645C>G (p.Ala2882Gly)
c.8345C>G (p.Ala2782Gly)
c.5609C>G (p.Ala1870Gly)
c.4502C>G (p.Ala1501Gly)
c.8528C>G (p.Ala2843Gly)
c.4280C>G (p.Ala1427Gly)
c.7508C>G (p.Ala2503Gly)
8g.99819438C>TCA182328628VPS13Bc.8723C>T (p.Ala2908Val)
n.8793C>T
c.*4405C>T (n.*4405C>T)
c.8648C>T (p.Ala2883Val)
c.8720C>T (p.Ala2907Val)
c.8645C>T (p.Ala2882Val)
c.8345C>T (p.Ala2782Val)
c.5609C>T (p.Ala1870Val)
c.4502C>T (p.Ala1501Val)
c.8528C>T (p.Ala2843Val)
c.4280C>T (p.Ala1427Val)
c.7508C>T (p.Ala2503Val)
 dbSNP
8g.99819439A>CCA462339376VPS13Bc.8724A>C (p.Ala2908=)
n.8794A>C
c.*4406A>C (n.*4406A>C)
c.8649A>C (p.Ala2883=)
c.8721A>C (p.Ala2907=)
c.8646A>C (p.Ala2882=)
c.8346A>C (p.Ala2782=)
c.5610A>C (p.Ala1870=)
c.4503A>C (p.Ala1501=)
c.8529A>C (p.Ala2843=)
c.4281A>C (p.Ala1427=)
c.7509A>C (p.Ala2503=)
8g.99819439A>GCA462339378VPS13Bc.8724A>G (p.Ala2908=)
n.8794A>G
c.*4406A>G (n.*4406A>G)
c.8649A>G (p.Ala2883=)
c.8721A>G (p.Ala2907=)
c.8646A>G (p.Ala2882=)
c.8346A>G (p.Ala2782=)
c.5610A>G (p.Ala1870=)
c.4503A>G (p.Ala1501=)
c.8529A>G (p.Ala2843=)
c.4281A>G (p.Ala1427=)
c.7509A>G (p.Ala2503=)
8g.99819439A>TCA462339379VPS13Bc.8724A>T (p.Ala2908=)
n.8794A>T
c.*4406A>T (n.*4406A>T)
c.8649A>T (p.Ala2883=)
c.8721A>T (p.Ala2907=)
c.8646A>T (p.Ala2882=)
c.8346A>T (p.Ala2782=)
c.5610A>T (p.Ala1870=)
c.4503A>T (p.Ala1501=)
c.8529A>T (p.Ala2843=)
c.4281A>T (p.Ala1427=)
c.7509A>T (p.Ala2503=)
8g.99819440G>ACA371776123VPS13Bc.8725G>A (p.Val2909Ile)
n.8795G>A
c.*4407G>A (n.*4407G>A)
c.8650G>A (p.Val2884Ile)
c.8722G>A (p.Val2908Ile)
c.8647G>A (p.Val2883Ile)
c.8347G>A (p.Val2783Ile)
c.5611G>A (p.Val1871Ile)
c.4504G>A (p.Val1502Ile)
c.8530G>A (p.Val2844Ile)
c.4282G>A (p.Val1428Ile)
c.7510G>A (p.Val2504Ile)
 gnomAD v4
8g.99819440G>CCA371776124VPS13Bc.8725G>C (p.Val2909Leu)
n.8795G>C
c.*4407G>C (n.*4407G>C)
c.8650G>C (p.Val2884Leu)
c.8722G>C (p.Val2908Leu)
c.8647G>C (p.Val2883Leu)
c.8347G>C (p.Val2783Leu)
c.5611G>C (p.Val1871Leu)
c.4504G>C (p.Val1502Leu)
c.8530G>C (p.Val2844Leu)
c.4282G>C (p.Val1428Leu)
c.7510G>C (p.Val2504Leu)
8g.99819440G>TCA371776126VPS13Bc.8725G>T (p.Val2909Phe)
n.8795G>T
c.*4407G>T (n.*4407G>T)
c.8650G>T (p.Val2884Phe)
c.8722G>T (p.Val2908Phe)
c.8647G>T (p.Val2883Phe)
c.8347G>T (p.Val2783Phe)
c.5611G>T (p.Val1871Phe)
c.4504G>T (p.Val1502Phe)
c.8530G>T (p.Val2844Phe)
c.4282G>T (p.Val1428Phe)
c.7510G>T (p.Val2504Phe)
8g.99819441T>ACA371776128VPS13Bc.8726T>A (p.Val2909Asp)
n.8796T>A
c.*4408T>A (n.*4408T>A)
c.8651T>A (p.Val2884Asp)
c.8723T>A (p.Val2908Asp)
c.8648T>A (p.Val2883Asp)
c.8348T>A (p.Val2783Asp)
c.5612T>A (p.Val1871Asp)
c.4505T>A (p.Val1502Asp)
c.8531T>A (p.Val2844Asp)
c.4283T>A (p.Val1428Asp)
c.7511T>A (p.Val2504Asp)
8g.99819441T>CCA4824520VPS13Bc.8726T>C (p.Val2909Ala)
n.8796T>C
c.*4408T>C (n.*4408T>C)
c.8651T>C (p.Val2884Ala)
c.8723T>C (p.Val2908Ala)
c.8648T>C (p.Val2883Ala)
c.8348T>C (p.Val2783Ala)
c.5612T>C (p.Val1871Ala)
c.4505T>C (p.Val1502Ala)
c.8531T>C (p.Val2844Ala)
c.4283T>C (p.Val1428Ala)
c.7511T>C (p.Val2504Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819441T>GCA371776130VPS13Bc.8726T>G (p.Val2909Gly)
n.8796T>G
c.*4408T>G (n.*4408T>G)
c.8651T>G (p.Val2884Gly)
c.8723T>G (p.Val2908Gly)
c.8648T>G (p.Val2883Gly)
c.8348T>G (p.Val2783Gly)
c.5612T>G (p.Val1871Gly)
c.4505T>G (p.Val1502Gly)
c.8531T>G (p.Val2844Gly)
c.4283T>G (p.Val1428Gly)
c.7511T>G (p.Val2504Gly)
8g.99819442T>ACA462339383VPS13Bc.8727T>A (p.Val2909=)
n.8797T>A
c.*4409T>A (n.*4409T>A)
c.8652T>A (p.Val2884=)
c.8724T>A (p.Val2908=)
c.8649T>A (p.Val2883=)
c.8349T>A (p.Val2783=)
c.5613T>A (p.Val1871=)
c.4506T>A (p.Val1502=)
c.8532T>A (p.Val2844=)
c.4284T>A (p.Val1428=)
c.7512T>A (p.Val2504=)
8g.99819442T>CCA462339384VPS13Bc.8727T>C (p.Val2909=)
n.8797T>C
c.*4409T>C (n.*4409T>C)
c.8652T>C (p.Val2884=)
c.8724T>C (p.Val2908=)
c.8649T>C (p.Val2883=)
c.8349T>C (p.Val2783=)
c.5613T>C (p.Val1871=)
c.4506T>C (p.Val1502=)
c.8532T>C (p.Val2844=)
c.4284T>C (p.Val1428=)
c.7512T>C (p.Val2504=)
8g.99819442T>GCA462339385VPS13Bc.8727T>G (p.Val2909=)
n.8797T>G
c.*4409T>G (n.*4409T>G)
c.8652T>G (p.Val2884=)
c.8724T>G (p.Val2908=)
c.8649T>G (p.Val2883=)
c.8349T>G (p.Val2783=)
c.5613T>G (p.Val1871=)
c.4506T>G (p.Val1502=)
c.8532T>G (p.Val2844=)
c.4284T>G (p.Val1428=)
c.7512T>G (p.Val2504=)
8g.99819443C>ACA371776136VPS13Bc.8728C>A (p.Pro2910Thr)
n.8798C>A
c.*4410C>A (n.*4410C>A)
c.8653C>A (p.Pro2885Thr)
c.8725C>A (p.Pro2909Thr)
c.8650C>A (p.Pro2884Thr)
c.8350C>A (p.Pro2784Thr)
c.5614C>A (p.Pro1872Thr)
c.4507C>A (p.Pro1503Thr)
c.8533C>A (p.Pro2845Thr)
c.4285C>A (p.Pro1429Thr)
c.7513C>A (p.Pro2505Thr)
8g.99819443C>GCA371776134VPS13Bc.8728C>G (p.Pro2910Ala)
n.8798C>G
c.*4410C>G (n.*4410C>G)
c.8653C>G (p.Pro2885Ala)
c.8725C>G (p.Pro2909Ala)
c.8650C>G (p.Pro2884Ala)
c.8350C>G (p.Pro2784Ala)
c.5614C>G (p.Pro1872Ala)
c.4507C>G (p.Pro1503Ala)
c.8533C>G (p.Pro2845Ala)
c.4285C>G (p.Pro1429Ala)
c.7513C>G (p.Pro2505Ala)
8g.99819443C>TCA371776133VPS13Bc.8728C>T (p.Pro2910Ser)
n.8798C>T
c.*4410C>T (n.*4410C>T)
c.8653C>T (p.Pro2885Ser)
c.8725C>T (p.Pro2909Ser)
c.8650C>T (p.Pro2884Ser)
c.8350C>T (p.Pro2784Ser)
c.5614C>T (p.Pro1872Ser)
c.4507C>T (p.Pro1503Ser)
c.8533C>T (p.Pro2845Ser)
c.4285C>T (p.Pro1429Ser)
c.7513C>T (p.Pro2505Ser)
 COSMIC COSMIC
8g.99819444C>ACA371776139VPS13Bc.8729C>A (p.Pro2910His)
n.8799C>A
c.*4411C>A (n.*4411C>A)
c.8654C>A (p.Pro2885His)
c.8726C>A (p.Pro2909His)
c.8651C>A (p.Pro2884His)
c.8351C>A (p.Pro2784His)
c.5615C>A (p.Pro1872His)
c.4508C>A (p.Pro1503His)
c.8534C>A (p.Pro2845His)
c.4286C>A (p.Pro1429His)
c.7514C>A (p.Pro2505His)
8g.99819444C>GCA371776140VPS13Bc.8729C>G (p.Pro2910Arg)
n.8799C>G
c.*4411C>G (n.*4411C>G)
c.8654C>G (p.Pro2885Arg)
c.8726C>G (p.Pro2909Arg)
c.8651C>G (p.Pro2884Arg)
c.8351C>G (p.Pro2784Arg)
c.5615C>G (p.Pro1872Arg)
c.4508C>G (p.Pro1503Arg)
c.8534C>G (p.Pro2845Arg)
c.4286C>G (p.Pro1429Arg)
c.7514C>G (p.Pro2505Arg)
8g.99819444C>TCA371776141VPS13Bc.8729C>T (p.Pro2910Leu)
n.8799C>T
c.*4411C>T (n.*4411C>T)
c.8654C>T (p.Pro2885Leu)
c.8726C>T (p.Pro2909Leu)
c.8651C>T (p.Pro2884Leu)
c.8351C>T (p.Pro2784Leu)
c.5615C>T (p.Pro1872Leu)
c.4508C>T (p.Pro1503Leu)
c.8534C>T (p.Pro2845Leu)
c.4286C>T (p.Pro1429Leu)
c.7514C>T (p.Pro2505Leu)
 ClinVar
8g.99819445C>ACA462339387VPS13Bc.8730C>A (p.Pro2910=)
n.8800C>A
c.*4412C>A (n.*4412C>A)
c.8655C>A (p.Pro2885=)
c.8727C>A (p.Pro2909=)
c.8652C>A (p.Pro2884=)
c.8352C>A (p.Pro2784=)
c.5616C>A (p.Pro1872=)
c.4509C>A (p.Pro1503=)
c.8535C>A (p.Pro2845=)
c.4287C>A (p.Pro1429=)
c.7515C>A (p.Pro2505=)
8g.99819445C>GCA462339388VPS13Bc.8730C>G (p.Pro2910=)
n.8800C>G
c.*4412C>G (n.*4412C>G)
c.8655C>G (p.Pro2885=)
c.8727C>G (p.Pro2909=)
c.8652C>G (p.Pro2884=)
c.8352C>G (p.Pro2784=)
c.5616C>G (p.Pro1872=)
c.4509C>G (p.Pro1503=)
c.8535C>G (p.Pro2845=)
c.4287C>G (p.Pro1429=)
c.7515C>G (p.Pro2505=)
8g.99819445C>TCA462339389VPS13Bc.8730C>T (p.Pro2910=)
n.8800C>T
c.*4412C>T (n.*4412C>T)
c.8655C>T (p.Pro2885=)
c.8727C>T (p.Pro2909=)
c.8652C>T (p.Pro2884=)
c.8352C>T (p.Pro2784=)
c.5616C>T (p.Pro1872=)
c.4509C>T (p.Pro1503=)
c.8535C>T (p.Pro2845=)
c.4287C>T (p.Pro1429=)
c.7515C>T (p.Pro2505=)
 ClinVar COSMIC COSMIC
8g.99819446A>CCA371776144VPS13Bc.8731A>C (p.Ile2911Leu)
n.8801A>C
c.*4413A>C (n.*4413A>C)
c.8656A>C (p.Ile2886Leu)
c.8728A>C (p.Ile2910Leu)
c.8653A>C (p.Ile2885Leu)
c.8353A>C (p.Ile2785Leu)
c.5617A>C (p.Ile1873Leu)
c.4510A>C (p.Ile1504Leu)
c.8536A>C (p.Ile2846Leu)
c.4288A>C (p.Ile1430Leu)
c.7516A>C (p.Ile2506Leu)
8g.99819446A>GCA371776146VPS13Bc.8731A>G (p.Ile2911Val)
n.8801A>G
c.*4413A>G (n.*4413A>G)
c.8656A>G (p.Ile2886Val)
c.8728A>G (p.Ile2910Val)
c.8653A>G (p.Ile2885Val)
c.8353A>G (p.Ile2785Val)
c.5617A>G (p.Ile1873Val)
c.4510A>G (p.Ile1504Val)
c.8536A>G (p.Ile2846Val)
c.4288A>G (p.Ile1430Val)
c.7516A>G (p.Ile2506Val)
8g.99819446A>TCA371776148VPS13Bc.8731A>T (p.Ile2911Phe)
n.8801A>T
c.*4413A>T (n.*4413A>T)
c.8656A>T (p.Ile2886Phe)
c.8728A>T (p.Ile2910Phe)
c.8653A>T (p.Ile2885Phe)
c.8353A>T (p.Ile2785Phe)
c.5617A>T (p.Ile1873Phe)
c.4510A>T (p.Ile1504Phe)
c.8536A>T (p.Ile2846Phe)
c.4288A>T (p.Ile1430Phe)
c.7516A>T (p.Ile2506Phe)
8g.99819447T>ACA371776150VPS13Bc.8732T>A (p.Ile2911Asn)
n.8802T>A
c.*4414T>A (n.*4414T>A)
c.8657T>A (p.Ile2886Asn)
c.8729T>A (p.Ile2910Asn)
c.8654T>A (p.Ile2885Asn)
c.8354T>A (p.Ile2785Asn)
c.5618T>A (p.Ile1873Asn)
c.4511T>A (p.Ile1504Asn)
c.8537T>A (p.Ile2846Asn)
c.4289T>A (p.Ile1430Asn)
c.7517T>A (p.Ile2506Asn)
8g.99819447T>CCA371776153VPS13Bc.8732T>C (p.Ile2911Thr)
n.8802T>C
c.*4414T>C (n.*4414T>C)
c.8657T>C (p.Ile2886Thr)
c.8729T>C (p.Ile2910Thr)
c.8654T>C (p.Ile2885Thr)
c.8354T>C (p.Ile2785Thr)
c.5618T>C (p.Ile1873Thr)
c.4511T>C (p.Ile1504Thr)
c.8537T>C (p.Ile2846Thr)
c.4289T>C (p.Ile1430Thr)
c.7517T>C (p.Ile2506Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.99819447T>GCA371776151VPS13Bc.8732T>G (p.Ile2911Ser)
n.8802T>G
c.*4414T>G (n.*4414T>G)
c.8657T>G (p.Ile2886Ser)
c.8729T>G (p.Ile2910Ser)
c.8654T>G (p.Ile2885Ser)
c.8354T>G (p.Ile2785Ser)
c.5618T>G (p.Ile1873Ser)
c.4511T>G (p.Ile1504Ser)
c.8537T>G (p.Ile2846Ser)
c.4289T>G (p.Ile1430Ser)
c.7517T>G (p.Ile2506Ser)
8g.99819448C>ACA462339393VPS13Bc.8733C>A (p.Ile2911=)
n.8803C>A
c.*4415C>A (n.*4415C>A)
c.8658C>A (p.Ile2886=)
c.8730C>A (p.Ile2910=)
c.8655C>A (p.Ile2885=)
c.8355C>A (p.Ile2785=)
c.5619C>A (p.Ile1873=)
c.4512C>A (p.Ile1504=)
c.8538C>A (p.Ile2846=)
c.4290C>A (p.Ile1430=)
c.7518C>A (p.Ile2506=)
8g.99819448C>GCA371776156VPS13Bc.8733C>G (p.Ile2911Met)
n.8803C>G
c.*4415C>G (n.*4415C>G)
c.8658C>G (p.Ile2886Met)
c.8730C>G (p.Ile2910Met)
c.8655C>G (p.Ile2885Met)
c.8355C>G (p.Ile2785Met)
c.5619C>G (p.Ile1873Met)
c.4512C>G (p.Ile1504Met)
c.8538C>G (p.Ile2846Met)
c.4290C>G (p.Ile1430Met)
c.7518C>G (p.Ile2506Met)
8g.99819448C>TCA462339395VPS13Bc.8733C>T (p.Ile2911=)
n.8803C>T
c.*4415C>T (n.*4415C>T)
c.8658C>T (p.Ile2886=)
c.8730C>T (p.Ile2910=)
c.8655C>T (p.Ile2885=)
c.8355C>T (p.Ile2785=)
c.5619C>T (p.Ile1873=)
c.4512C>T (p.Ile1504=)
c.8538C>T (p.Ile2846=)
c.4290C>T (p.Ile1430=)
c.7518C>T (p.Ile2506=)
8g.99819449T>ACA371776158VPS13Bc.8734T>A (p.Ser2912Thr)
n.8804T>A
c.*4416T>A (n.*4416T>A)
c.8659T>A (p.Ser2887Thr)
c.8731T>A (p.Ser2911Thr)
c.8656T>A (p.Ser2886Thr)
c.8356T>A (p.Ser2786Thr)
c.5620T>A (p.Ser1874Thr)
c.4513T>A (p.Ser1505Thr)
c.8539T>A (p.Ser2847Thr)
c.4291T>A (p.Ser1431Thr)
c.7519T>A (p.Ser2507Thr)
8g.99819449T>CCA371776159VPS13Bc.8734T>C (p.Ser2912Pro)
n.8804T>C
c.*4416T>C (n.*4416T>C)
c.8659T>C (p.Ser2887Pro)
c.8731T>C (p.Ser2911Pro)
c.8656T>C (p.Ser2886Pro)
c.8356T>C (p.Ser2786Pro)
c.5620T>C (p.Ser1874Pro)
c.4513T>C (p.Ser1505Pro)
c.8539T>C (p.Ser2847Pro)
c.4291T>C (p.Ser1431Pro)
c.7519T>C (p.Ser2507Pro)
8g.99819449T>GCA371776160VPS13Bc.8734T>G (p.Ser2912Ala)
n.8804T>G
c.*4416T>G (n.*4416T>G)
c.8659T>G (p.Ser2887Ala)
c.8731T>G (p.Ser2911Ala)
c.8656T>G (p.Ser2886Ala)
c.8356T>G (p.Ser2786Ala)
c.5620T>G (p.Ser1874Ala)
c.4513T>G (p.Ser1505Ala)
c.8539T>G (p.Ser2847Ala)
c.4291T>G (p.Ser1431Ala)
c.7519T>G (p.Ser2507Ala)
8g.99819450C>ACA371776161VPS13Bc.8735C>A (p.Ser2912Ter)
n.8805C>A
c.*4417C>A (n.*4417C>A)
c.8660C>A (p.Ser2887Ter)
c.8732C>A (p.Ser2911Ter)
c.8657C>A (p.Ser2886Ter)
c.8357C>A (p.Ser2786Ter)
c.5621C>A (p.Ser1874Ter)
c.4514C>A (p.Ser1505Ter)
c.8540C>A (p.Ser2847Ter)
c.4292C>A (p.Ser1431Ter)
c.7520C>A (p.Ser2507Ter)
8g.99819450C>GCA371776162VPS13Bc.8735C>G (p.Ser2912Ter)
n.8805C>G
c.*4417C>G (n.*4417C>G)
c.8660C>G (p.Ser2887Ter)
c.8732C>G (p.Ser2911Ter)
c.8657C>G (p.Ser2886Ter)
c.8357C>G (p.Ser2786Ter)
c.5621C>G (p.Ser1874Ter)
c.4514C>G (p.Ser1505Ter)
c.8540C>G (p.Ser2847Ter)
c.4292C>G (p.Ser1431Ter)
c.7520C>G (p.Ser2507Ter)
 dbSNP
8g.99819450C>TCA371776164VPS13Bc.8735C>T (p.Ser2912Leu)
n.8805C>T
c.*4417C>T (n.*4417C>T)
c.8660C>T (p.Ser2887Leu)
c.8732C>T (p.Ser2911Leu)
c.8657C>T (p.Ser2886Leu)
c.8357C>T (p.Ser2786Leu)
c.5621C>T (p.Ser1874Leu)
c.4514C>T (p.Ser1505Leu)
c.8540C>T (p.Ser2847Leu)
c.4292C>T (p.Ser1431Leu)
c.7520C>T (p.Ser2507Leu)
 gnomAD v4
8g.99819451A>CCA462339398VPS13Bc.8736A>C (p.Ser2912=)
n.8806A>C
c.*4418A>C (n.*4418A>C)
c.8661A>C (p.Ser2887=)
c.8733A>C (p.Ser2911=)
c.8658A>C (p.Ser2886=)
c.8358A>C (p.Ser2786=)
c.5622A>C (p.Ser1874=)
c.4515A>C (p.Ser1505=)
c.8541A>C (p.Ser2847=)
c.4293A>C (p.Ser1431=)
c.7521A>C (p.Ser2507=)
8g.99819451A>GCA4824521VPS13Bc.8736A>G (p.Ser2912=)
n.8806A>G
c.*4418A>G (n.*4418A>G)
c.8661A>G (p.Ser2887=)
c.8733A>G (p.Ser2911=)
c.8658A>G (p.Ser2886=)
c.8358A>G (p.Ser2786=)
c.5622A>G (p.Ser1874=)
c.4515A>G (p.Ser1505=)
c.8541A>G (p.Ser2847=)
c.4293A>G (p.Ser1431=)
c.7521A>G (p.Ser2507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819451A>TCA462339400VPS13Bc.8736A>T (p.Ser2912=)
n.8806A>T
c.*4418A>T (n.*4418A>T)
c.8661A>T (p.Ser2887=)
c.8733A>T (p.Ser2911=)
c.8658A>T (p.Ser2886=)
c.8358A>T (p.Ser2786=)
c.5622A>T (p.Ser1874=)
c.4515A>T (p.Ser1505=)
c.8541A>T (p.Ser2847=)
c.4293A>T (p.Ser1431=)
c.7521A>T (p.Ser2507=)
8g.99819452A>CCA371776167VPS13Bc.8737A>C (p.Thr2913Pro)
n.8807A>C
c.*4419A>C (n.*4419A>C)
c.8662A>C (p.Thr2888Pro)
c.8734A>C (p.Thr2912Pro)
c.8659A>C (p.Thr2887Pro)
c.8359A>C (p.Thr2787Pro)
c.5623A>C (p.Thr1875Pro)
c.4516A>C (p.Thr1506Pro)
c.8542A>C (p.Thr2848Pro)
c.4294A>C (p.Thr1432Pro)
c.7522A>C (p.Thr2508Pro)
8g.99819452A>GCA371776169VPS13Bc.8737A>G (p.Thr2913Ala)
n.8807A>G
c.*4419A>G (n.*4419A>G)
c.8662A>G (p.Thr2888Ala)
c.8734A>G (p.Thr2912Ala)
c.8659A>G (p.Thr2887Ala)
c.8359A>G (p.Thr2787Ala)
c.5623A>G (p.Thr1875Ala)
c.4516A>G (p.Thr1506Ala)
c.8542A>G (p.Thr2848Ala)
c.4294A>G (p.Thr1432Ala)
c.7522A>G (p.Thr2508Ala)
 COSMIC COSMIC
8g.99819452A>TCA371776171VPS13Bc.8737A>T (p.Thr2913Ser)
n.8807A>T
c.*4419A>T (n.*4419A>T)
c.8662A>T (p.Thr2888Ser)
c.8734A>T (p.Thr2912Ser)
c.8659A>T (p.Thr2887Ser)
c.8359A>T (p.Thr2787Ser)
c.5623A>T (p.Thr1875Ser)
c.4516A>T (p.Thr1506Ser)
c.8542A>T (p.Thr2848Ser)
c.4294A>T (p.Thr1432Ser)
c.7522A>T (p.Thr2508Ser)
8g.99819453C>ACA371776172VPS13Bc.8738C>A (p.Thr2913Lys)
n.8808C>A
c.*4420C>A (n.*4420C>A)
c.8663C>A (p.Thr2888Lys)
c.8735C>A (p.Thr2912Lys)
c.8660C>A (p.Thr2887Lys)
c.8360C>A (p.Thr2787Lys)
c.5624C>A (p.Thr1875Lys)
c.4517C>A (p.Thr1506Lys)
c.8543C>A (p.Thr2848Lys)
c.4295C>A (p.Thr1432Lys)
c.7523C>A (p.Thr2508Lys)
8g.99819453C>GCA371776176VPS13Bc.8738C>G (p.Thr2913Arg)
n.8808C>G
c.*4420C>G (n.*4420C>G)
c.8663C>G (p.Thr2888Arg)
c.8735C>G (p.Thr2912Arg)
c.8660C>G (p.Thr2887Arg)
c.8360C>G (p.Thr2787Arg)
c.5624C>G (p.Thr1875Arg)
c.4517C>G (p.Thr1506Arg)
c.8543C>G (p.Thr2848Arg)
c.4295C>G (p.Thr1432Arg)
c.7523C>G (p.Thr2508Arg)
8g.99819453C>TCA371776174VPS13Bc.8738C>T (p.Thr2913Ile)
n.8808C>T
c.*4420C>T (n.*4420C>T)
c.8663C>T (p.Thr2888Ile)
c.8735C>T (p.Thr2912Ile)
c.8660C>T (p.Thr2887Ile)
c.8360C>T (p.Thr2787Ile)
c.5624C>T (p.Thr1875Ile)
c.4517C>T (p.Thr1506Ile)
c.8543C>T (p.Thr2848Ile)
c.4295C>T (p.Thr1432Ile)
c.7523C>T (p.Thr2508Ile)
8g.99819454A>CCA462339460VPS13Bc.8739A>C (p.Thr2913=)
n.8809A>C
c.*4421A>C (n.*4421A>C)
c.8664A>C (p.Thr2888=)
c.8736A>C (p.Thr2912=)
c.8661A>C (p.Thr2887=)
c.8361A>C (p.Thr2787=)
c.5625A>C (p.Thr1875=)
c.4518A>C (p.Thr1506=)
c.8544A>C (p.Thr2848=)
c.4296A>C (p.Thr1432=)
c.7524A>C (p.Thr2508=)
8g.99819454A>GCA4824522VPS13Bc.8739A>G (p.Thr2913=)
n.8809A>G
c.*4421A>G (n.*4421A>G)
c.8664A>G (p.Thr2888=)
c.8736A>G (p.Thr2912=)
c.8661A>G (p.Thr2887=)
c.8361A>G (p.Thr2787=)
c.5625A>G (p.Thr1875=)
c.4518A>G (p.Thr1506=)
c.8544A>G (p.Thr2848=)
c.4296A>G (p.Thr1432=)
c.7524A>G (p.Thr2508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819454A>TCA462339461VPS13Bc.8739A>T (p.Thr2913=)
n.8809A>T
c.*4421A>T (n.*4421A>T)
c.8664A>T (p.Thr2888=)
c.8736A>T (p.Thr2912=)
c.8661A>T (p.Thr2887=)
c.8361A>T (p.Thr2787=)
c.5625A>T (p.Thr1875=)
c.4518A>T (p.Thr1506=)
c.8544A>T (p.Thr2848=)
c.4296A>T (p.Thr1432=)
c.7524A>T (p.Thr2508=)
8g.99819455T>ACA371776179VPS13Bc.8740T>A (p.Ser2914Thr)
n.8810T>A
c.*4422T>A (n.*4422T>A)
c.8665T>A (p.Ser2889Thr)
c.8737T>A (p.Ser2913Thr)
c.8662T>A (p.Ser2888Thr)
c.8362T>A (p.Ser2788Thr)
c.5626T>A (p.Ser1876Thr)
c.4519T>A (p.Ser1507Thr)
c.8545T>A (p.Ser2849Thr)
c.4297T>A (p.Ser1433Thr)
c.7525T>A (p.Ser2509Thr)
8g.99819455T>CCA371776181VPS13Bc.8740T>C (p.Ser2914Pro)
n.8810T>C
c.*4422T>C (n.*4422T>C)
c.8665T>C (p.Ser2889Pro)
c.8737T>C (p.Ser2913Pro)
c.8662T>C (p.Ser2888Pro)
c.8362T>C (p.Ser2788Pro)
c.5626T>C (p.Ser1876Pro)
c.4519T>C (p.Ser1507Pro)
c.8545T>C (p.Ser2849Pro)
c.4297T>C (p.Ser1433Pro)
c.7525T>C (p.Ser2509Pro)
8g.99819455T>GCA371776183VPS13Bc.8740T>G (p.Ser2914Ala)
n.8810T>G
c.*4422T>G (n.*4422T>G)
c.8665T>G (p.Ser2889Ala)
c.8737T>G (p.Ser2913Ala)
c.8662T>G (p.Ser2888Ala)
c.8362T>G (p.Ser2788Ala)
c.5626T>G (p.Ser1876Ala)
c.4519T>G (p.Ser1507Ala)
c.8545T>G (p.Ser2849Ala)
c.4297T>G (p.Ser1433Ala)
c.7525T>G (p.Ser2509Ala)
8g.99819456C>ACA371776185VPS13Bc.8741C>A (p.Ser2914Tyr)
n.8811C>A
c.*4423C>A (n.*4423C>A)
c.8666C>A (p.Ser2889Tyr)
c.8738C>A (p.Ser2913Tyr)
c.8663C>A (p.Ser2888Tyr)
c.8363C>A (p.Ser2788Tyr)
c.5627C>A (p.Ser1876Tyr)
c.4520C>A (p.Ser1507Tyr)
c.8546C>A (p.Ser2849Tyr)
c.4298C>A (p.Ser1433Tyr)
c.7526C>A (p.Ser2509Tyr)
8g.99819456C>GCA371776187VPS13Bc.8741C>G (p.Ser2914Cys)
n.8811C>G
c.*4423C>G (n.*4423C>G)
c.8666C>G (p.Ser2889Cys)
c.8738C>G (p.Ser2913Cys)
c.8663C>G (p.Ser2888Cys)
c.8363C>G (p.Ser2788Cys)
c.5627C>G (p.Ser1876Cys)
c.4520C>G (p.Ser1507Cys)
c.8546C>G (p.Ser2849Cys)
c.4298C>G (p.Ser1433Cys)
c.7526C>G (p.Ser2509Cys)
8g.99819456C>TCA371776189VPS13Bc.8741C>T (p.Ser2914Phe)
n.8811C>T
c.*4423C>T (n.*4423C>T)
c.8666C>T (p.Ser2889Phe)
c.8738C>T (p.Ser2913Phe)
c.8663C>T (p.Ser2888Phe)
c.8363C>T (p.Ser2788Phe)
c.5627C>T (p.Ser1876Phe)
c.4520C>T (p.Ser1507Phe)
c.8546C>T (p.Ser2849Phe)
c.4298C>T (p.Ser1433Phe)
c.7526C>T (p.Ser2509Phe)
8g.99819457C>ACA462339462VPS13Bc.8742C>A (p.Ser2914=)
n.8812C>A
c.*4424C>A (n.*4424C>A)
c.8667C>A (p.Ser2889=)
c.8739C>A (p.Ser2913=)
c.8664C>A (p.Ser2888=)
c.8364C>A (p.Ser2788=)
c.5628C>A (p.Ser1876=)
c.4521C>A (p.Ser1507=)
c.8547C>A (p.Ser2849=)
c.4299C>A (p.Ser1433=)
c.7527C>A (p.Ser2509=)
8g.99819457C>GCA462339463VPS13Bc.8742C>G (p.Ser2914=)
n.8812C>G
c.*4424C>G (n.*4424C>G)
c.8667C>G (p.Ser2889=)
c.8739C>G (p.Ser2913=)
c.8664C>G (p.Ser2888=)
c.8364C>G (p.Ser2788=)
c.5628C>G (p.Ser1876=)
c.4521C>G (p.Ser1507=)
c.8547C>G (p.Ser2849=)
c.4299C>G (p.Ser1433=)
c.7527C>G (p.Ser2509=)
8g.99819457C>TCA462339464VPS13Bc.8742C>T (p.Ser2914=)
n.8812C>T
c.*4424C>T (n.*4424C>T)
c.8667C>T (p.Ser2889=)
c.8739C>T (p.Ser2913=)
c.8664C>T (p.Ser2888=)
c.8364C>T (p.Ser2788=)
c.5628C>T (p.Ser1876=)
c.4521C>T (p.Ser1507=)
c.8547C>T (p.Ser2849=)
c.4299C>T (p.Ser1433=)
c.7527C>T (p.Ser2509=)
 ClinVar dbSNP
8g.99819458C>ACA371776192VPS13Bc.8743C>A (p.Leu2915Ile)
n.8813C>A
c.*4425C>A (n.*4425C>A)
c.8668C>A (p.Leu2890Ile)
c.8740C>A (p.Leu2914Ile)
c.8665C>A (p.Leu2889Ile)
c.8365C>A (p.Leu2789Ile)
c.5629C>A (p.Leu1877Ile)
c.4522C>A (p.Leu1508Ile)
c.8548C>A (p.Leu2850Ile)
c.4300C>A (p.Leu1434Ile)
c.7528C>A (p.Leu2510Ile)
8g.99819458C>GCA4824523VPS13Bc.8743C>G (p.Leu2915Val)
n.8813C>G
c.*4425C>G (n.*4425C>G)
c.8668C>G (p.Leu2890Val)
c.8740C>G (p.Leu2914Val)
c.8665C>G (p.Leu2889Val)
c.8365C>G (p.Leu2789Val)
c.5629C>G (p.Leu1877Val)
c.4522C>G (p.Leu1508Val)
c.8548C>G (p.Leu2850Val)
c.4300C>G (p.Leu1434Val)
c.7528C>G (p.Leu2510Val)
 dbSNP ExAC gnomAD v2
8g.99819458C>TCA371776194VPS13Bc.8743C>T (p.Leu2915Phe)
n.8813C>T
c.*4425C>T (n.*4425C>T)
c.8668C>T (p.Leu2890Phe)
c.8740C>T (p.Leu2914Phe)
c.8665C>T (p.Leu2889Phe)
c.8365C>T (p.Leu2789Phe)
c.5629C>T (p.Leu1877Phe)
c.4522C>T (p.Leu1508Phe)
c.8548C>T (p.Leu2850Phe)
c.4300C>T (p.Leu1434Phe)
c.7528C>T (p.Leu2510Phe)
8g.99819459T>ACA371776196VPS13Bc.8744T>A (p.Leu2915His)
n.8814T>A
c.*4426T>A (n.*4426T>A)
c.8669T>A (p.Leu2890His)
c.8741T>A (p.Leu2914His)
c.8666T>A (p.Leu2889His)
c.8366T>A (p.Leu2789His)
c.5630T>A (p.Leu1877His)
c.4523T>A (p.Leu1508His)
c.8549T>A (p.Leu2850His)
c.4301T>A (p.Leu1434His)
c.7529T>A (p.Leu2510His)
8g.99819459T>CCA371776198VPS13Bc.8744T>C (p.Leu2915Pro)
n.8814T>C
c.*4426T>C (n.*4426T>C)
c.8669T>C (p.Leu2890Pro)
c.8741T>C (p.Leu2914Pro)
c.8666T>C (p.Leu2889Pro)
c.8366T>C (p.Leu2789Pro)
c.5630T>C (p.Leu1877Pro)
c.4523T>C (p.Leu1508Pro)
c.8549T>C (p.Leu2850Pro)
c.4301T>C (p.Leu1434Pro)
c.7529T>C (p.Leu2510Pro)
8g.99819459T>GCA371776199VPS13Bc.8744T>G (p.Leu2915Arg)
n.8814T>G
c.*4426T>G (n.*4426T>G)
c.8669T>G (p.Leu2890Arg)
c.8741T>G (p.Leu2914Arg)
c.8666T>G (p.Leu2889Arg)
c.8366T>G (p.Leu2789Arg)
c.5630T>G (p.Leu1877Arg)
c.4523T>G (p.Leu1508Arg)
c.8549T>G (p.Leu2850Arg)
c.4301T>G (p.Leu1434Arg)
c.7529T>G (p.Leu2510Arg)
8g.99819460C>ACA462339465VPS13Bc.8745C>A (p.Leu2915=)
n.8815C>A
c.*4427C>A (n.*4427C>A)
c.8670C>A (p.Leu2890=)
c.8742C>A (p.Leu2914=)
c.8667C>A (p.Leu2889=)
c.8367C>A (p.Leu2789=)
c.5631C>A (p.Leu1877=)
c.4524C>A (p.Leu1508=)
c.8550C>A (p.Leu2850=)
c.4302C>A (p.Leu1434=)
c.7530C>A (p.Leu2510=)
8g.99819460C>GCA462339466VPS13Bc.8745C>G (p.Leu2915=)
n.8815C>G
c.*4427C>G (n.*4427C>G)
c.8670C>G (p.Leu2890=)
c.8742C>G (p.Leu2914=)
c.8667C>G (p.Leu2889=)
c.8367C>G (p.Leu2789=)
c.5631C>G (p.Leu1877=)
c.4524C>G (p.Leu1508=)
c.8550C>G (p.Leu2850=)
c.4302C>G (p.Leu1434=)
c.7530C>G (p.Leu2510=)
8g.99819460C>TCA462339467VPS13Bc.8745C>T (p.Leu2915=)
n.8815C>T
c.*4427C>T (n.*4427C>T)
c.8670C>T (p.Leu2890=)
c.8742C>T (p.Leu2914=)
c.8667C>T (p.Leu2889=)
c.8367C>T (p.Leu2789=)
c.5631C>T (p.Leu1877=)
c.4524C>T (p.Leu1508=)
c.8550C>T (p.Leu2850=)
c.4302C>T (p.Leu1434=)
c.7530C>T (p.Leu2510=)
 COSMIC
8g.99819461A>CCA371776202VPS13Bc.8746A>C (p.Ile2916Leu)
n.8816A>C
c.*4428A>C (n.*4428A>C)
c.8671A>C (p.Ile2891Leu)
c.8743A>C (p.Ile2915Leu)
c.8668A>C (p.Ile2890Leu)
c.8368A>C (p.Ile2790Leu)
c.5632A>C (p.Ile1878Leu)
c.4525A>C (p.Ile1509Leu)
c.8551A>C (p.Ile2851Leu)
c.4303A>C (p.Ile1435Leu)
c.7531A>C (p.Ile2511Leu)
8g.99819461A>GCA371776205VPS13Bc.8746A>G (p.Ile2916Val)
n.8816A>G
c.*4428A>G (n.*4428A>G)
c.8671A>G (p.Ile2891Val)
c.8743A>G (p.Ile2915Val)
c.8668A>G (p.Ile2890Val)
c.8368A>G (p.Ile2790Val)
c.5632A>G (p.Ile1878Val)
c.4525A>G (p.Ile1509Val)
c.8551A>G (p.Ile2851Val)
c.4303A>G (p.Ile1435Val)
c.7531A>G (p.Ile2511Val)
 ClinVar dbSNP
8g.99819461A>TCA371776204VPS13Bc.8746A>T (p.Ile2916Phe)
n.8816A>T
c.*4428A>T (n.*4428A>T)
c.8671A>T (p.Ile2891Phe)
c.8743A>T (p.Ile2915Phe)
c.8668A>T (p.Ile2890Phe)
c.8368A>T (p.Ile2790Phe)
c.5632A>T (p.Ile1878Phe)
c.4525A>T (p.Ile1509Phe)
c.8551A>T (p.Ile2851Phe)
c.4303A>T (p.Ile1435Phe)
c.7531A>T (p.Ile2511Phe)
8g.99819462T>ACA371776207VPS13Bc.8747T>A (p.Ile2916Asn)
n.8817T>A
c.*4429T>A (n.*4429T>A)
c.8672T>A (p.Ile2891Asn)
c.8744T>A (p.Ile2915Asn)
c.8669T>A (p.Ile2890Asn)
c.8369T>A (p.Ile2790Asn)
c.5633T>A (p.Ile1878Asn)
c.4526T>A (p.Ile1509Asn)
c.8552T>A (p.Ile2851Asn)
c.4304T>A (p.Ile1435Asn)
c.7532T>A (p.Ile2511Asn)
8g.99819462T>CCA371776210VPS13Bc.8747T>C (p.Ile2916Thr)
n.8817T>C
c.*4429T>C (n.*4429T>C)
c.8672T>C (p.Ile2891Thr)
c.8744T>C (p.Ile2915Thr)
c.8669T>C (p.Ile2890Thr)
c.8369T>C (p.Ile2790Thr)
c.5633T>C (p.Ile1878Thr)
c.4526T>C (p.Ile1509Thr)
c.8552T>C (p.Ile2851Thr)
c.4304T>C (p.Ile1435Thr)
c.7532T>C (p.Ile2511Thr)
8g.99819462T>GCA371776211VPS13Bc.8747T>G (p.Ile2916Ser)
n.8817T>G
c.*4429T>G (n.*4429T>G)
c.8672T>G (p.Ile2891Ser)
c.8744T>G (p.Ile2915Ser)
c.8669T>G (p.Ile2890Ser)
c.8369T>G (p.Ile2790Ser)
c.5633T>G (p.Ile1878Ser)
c.4526T>G (p.Ile1509Ser)
c.8552T>G (p.Ile2851Ser)
c.4304T>G (p.Ile1435Ser)
c.7532T>G (p.Ile2511Ser)
 dbSNP gnomAD v4
8g.99819463T>ACA462339468VPS13Bc.8748T>A (p.Ile2916=)
n.8818T>A
c.*4430T>A (n.*4430T>A)
c.8673T>A (p.Ile2891=)
c.8745T>A (p.Ile2915=)
c.8670T>A (p.Ile2890=)
c.8370T>A (p.Ile2790=)
c.5634T>A (p.Ile1878=)
c.4527T>A (p.Ile1509=)
c.8553T>A (p.Ile2851=)
c.4305T>A (p.Ile1435=)
c.7533T>A (p.Ile2511=)
8g.99819463T>CCA462339469VPS13Bc.8748T>C (p.Ile2916=)
n.8818T>C
c.*4430T>C (n.*4430T>C)
c.8673T>C (p.Ile2891=)
c.8745T>C (p.Ile2915=)
c.8670T>C (p.Ile2890=)
c.8370T>C (p.Ile2790=)
c.5634T>C (p.Ile1878=)
c.4527T>C (p.Ile1509=)
c.8553T>C (p.Ile2851=)
c.4305T>C (p.Ile1435=)
c.7533T>C (p.Ile2511=)
8g.99819463T>GCA371776213VPS13Bc.8748T>G (p.Ile2916Met)
n.8818T>G
c.*4430T>G (n.*4430T>G)
c.8673T>G (p.Ile2891Met)
c.8745T>G (p.Ile2915Met)
c.8670T>G (p.Ile2890Met)
c.8370T>G (p.Ile2790Met)
c.5634T>G (p.Ile1878Met)
c.4527T>G (p.Ile1509Met)
c.8553T>G (p.Ile2851Met)
c.4305T>G (p.Ile1435Met)
c.7533T>G (p.Ile2511Met)
8g.99819464A>CCA371776216VPS13Bc.8749A>C (p.Lys2917Gln)
n.8819A>C
c.*4431A>C (n.*4431A>C)
c.8674A>C (p.Lys2892Gln)
c.8746A>C (p.Lys2916Gln)
c.8671A>C (p.Lys2891Gln)
c.8371A>C (p.Lys2791Gln)
c.5635A>C (p.Lys1879Gln)
c.4528A>C (p.Lys1510Gln)
c.8554A>C (p.Lys2852Gln)
c.4306A>C (p.Lys1436Gln)
c.7534A>C (p.Lys2512Gln)
8g.99819464A>GCA371776217VPS13Bc.8749A>G (p.Lys2917Glu)
n.8819A>G
c.*4431A>G (n.*4431A>G)
c.8674A>G (p.Lys2892Glu)
c.8746A>G (p.Lys2916Glu)
c.8671A>G (p.Lys2891Glu)
c.8371A>G (p.Lys2791Glu)
c.5635A>G (p.Lys1879Glu)
c.4528A>G (p.Lys1510Glu)
c.8554A>G (p.Lys2852Glu)
c.4306A>G (p.Lys1436Glu)
c.7534A>G (p.Lys2512Glu)
 gnomAD v4
8g.99819464A>TCA371776219VPS13Bc.8749A>T (p.Lys2917Ter)
n.8819A>T
c.*4431A>T (n.*4431A>T)
c.8674A>T (p.Lys2892Ter)
c.8746A>T (p.Lys2916Ter)
c.8671A>T (p.Lys2891Ter)
c.8371A>T (p.Lys2791Ter)
c.5635A>T (p.Lys1879Ter)
c.4528A>T (p.Lys1510Ter)
c.8554A>T (p.Lys2852Ter)
c.4306A>T (p.Lys1436Ter)
c.7534A>T (p.Lys2512Ter)
8g.99819465A>CCA371776221VPS13Bc.8750A>C (p.Lys2917Thr)
n.8820A>C
c.*4432A>C (n.*4432A>C)
c.8675A>C (p.Lys2892Thr)
c.8747A>C (p.Lys2916Thr)
c.8672A>C (p.Lys2891Thr)
c.8372A>C (p.Lys2791Thr)
c.5636A>C (p.Lys1879Thr)
c.4529A>C (p.Lys1510Thr)
c.8555A>C (p.Lys2852Thr)
c.4307A>C (p.Lys1436Thr)
c.7535A>C (p.Lys2512Thr)
8g.99819465A>GCA371776223VPS13Bc.8750A>G (p.Lys2917Arg)
n.8820A>G
c.*4432A>G (n.*4432A>G)
c.8675A>G (p.Lys2892Arg)
c.8747A>G (p.Lys2916Arg)
c.8672A>G (p.Lys2891Arg)
c.8372A>G (p.Lys2791Arg)
c.5636A>G (p.Lys1879Arg)
c.4529A>G (p.Lys1510Arg)
c.8555A>G (p.Lys2852Arg)
c.4307A>G (p.Lys1436Arg)
c.7535A>G (p.Lys2512Arg)
 gnomAD v4
8g.99819465A>TCA371776225VPS13Bc.8750A>T (p.Lys2917Met)
n.8820A>T
c.*4432A>T (n.*4432A>T)
c.8675A>T (p.Lys2892Met)
c.8747A>T (p.Lys2916Met)
c.8672A>T (p.Lys2891Met)
c.8372A>T (p.Lys2791Met)
c.5636A>T (p.Lys1879Met)
c.4529A>T (p.Lys1510Met)
c.8555A>T (p.Lys2852Met)
c.4307A>T (p.Lys1436Met)
c.7535A>T (p.Lys2512Met)
8g.99819466G>ACA462339470VPS13Bc.8751G>A (p.Lys2917=)
n.8821G>A
c.*4433G>A (n.*4433G>A)
c.8676G>A (p.Lys2892=)
c.8748G>A (p.Lys2916=)
c.8673G>A (p.Lys2891=)
c.8373G>A (p.Lys2791=)
c.5637G>A (p.Lys1879=)
c.4530G>A (p.Lys1510=)
c.8556G>A (p.Lys2852=)
c.4308G>A (p.Lys1436=)
c.7536G>A (p.Lys2512=)
8g.99819466G>CCA371776229VPS13Bc.8751G>C (p.Lys2917Asn)
n.8821G>C
c.*4433G>C (n.*4433G>C)
c.8676G>C (p.Lys2892Asn)
c.8748G>C (p.Lys2916Asn)
c.8673G>C (p.Lys2891Asn)
c.8373G>C (p.Lys2791Asn)
c.5637G>C (p.Lys1879Asn)
c.4530G>C (p.Lys1510Asn)
c.8556G>C (p.Lys2852Asn)
c.4308G>C (p.Lys1436Asn)
c.7536G>C (p.Lys2512Asn)
8g.99819466G>TCA371776227VPS13Bc.8751G>T (p.Lys2917Asn)
n.8821G>T
c.*4433G>T (n.*4433G>T)
c.8676G>T (p.Lys2892Asn)
c.8748G>T (p.Lys2916Asn)
c.8673G>T (p.Lys2891Asn)
c.8373G>T (p.Lys2791Asn)
c.5637G>T (p.Lys1879Asn)
c.4530G>T (p.Lys1510Asn)
c.8556G>T (p.Lys2852Asn)
c.4308G>T (p.Lys1436Asn)
c.7536G>T (p.Lys2512Asn)
8g.99819467C>ACA182328672VPS13Bc.8752C>A (p.Gln2918Lys)
n.8822C>A
c.*4434C>A (n.*4434C>A)
c.8677C>A (p.Gln2893Lys)
c.8749C>A (p.Gln2917Lys)
c.8674C>A (p.Gln2892Lys)
c.8374C>A (p.Gln2792Lys)
c.5638C>A (p.Gln1880Lys)
c.4531C>A (p.Gln1511Lys)
c.8557C>A (p.Gln2853Lys)
c.4309C>A (p.Gln1437Lys)
c.7537C>A (p.Gln2513Lys)
 dbSNP
8g.99819467C>GCA371776234VPS13Bc.8752C>G (p.Gln2918Glu)
n.8822C>G
c.*4434C>G (n.*4434C>G)
c.8677C>G (p.Gln2893Glu)
c.8749C>G (p.Gln2917Glu)
c.8674C>G (p.Gln2892Glu)
c.8374C>G (p.Gln2792Glu)
c.5638C>G (p.Gln1880Glu)
c.4531C>G (p.Gln1511Glu)
c.8557C>G (p.Gln2853Glu)
c.4309C>G (p.Gln1437Glu)
c.7537C>G (p.Gln2513Glu)
8g.99819467C>TCA371776232VPS13Bc.8752C>T (p.Gln2918Ter)
n.8822C>T
c.*4434C>T (n.*4434C>T)
c.8677C>T (p.Gln2893Ter)
c.8749C>T (p.Gln2917Ter)
c.8674C>T (p.Gln2892Ter)
c.8374C>T (p.Gln2792Ter)
c.5638C>T (p.Gln1880Ter)
c.4531C>T (p.Gln1511Ter)
c.8557C>T (p.Gln2853Ter)
c.4309C>T (p.Gln1437Ter)
c.7537C>T (p.Gln2513Ter)
8g.99819468A>CCA371776236VPS13Bc.8753A>C (p.Gln2918Pro)
n.8823A>C
c.*4435A>C (n.*4435A>C)
c.8678A>C (p.Gln2893Pro)
c.8750A>C (p.Gln2917Pro)
c.8675A>C (p.Gln2892Pro)
c.8375A>C (p.Gln2792Pro)
c.5639A>C (p.Gln1880Pro)
c.4532A>C (p.Gln1511Pro)
c.8558A>C (p.Gln2853Pro)
c.4310A>C (p.Gln1437Pro)
c.7538A>C (p.Gln2513Pro)
8g.99819468A>GCA371776239VPS13Bc.8753A>G (p.Gln2918Arg)
n.8823A>G
c.*4435A>G (n.*4435A>G)
c.8678A>G (p.Gln2893Arg)
c.8750A>G (p.Gln2917Arg)
c.8675A>G (p.Gln2892Arg)
c.8375A>G (p.Gln2792Arg)
c.5639A>G (p.Gln1880Arg)
c.4532A>G (p.Gln1511Arg)
c.8558A>G (p.Gln2853Arg)
c.4310A>G (p.Gln1437Arg)
c.7538A>G (p.Gln2513Arg)
8g.99819468A>TCA371776238VPS13Bc.8753A>T (p.Gln2918Leu)
n.8823A>T
c.*4435A>T (n.*4435A>T)
c.8678A>T (p.Gln2893Leu)
c.8750A>T (p.Gln2917Leu)
c.8675A>T (p.Gln2892Leu)
c.8375A>T (p.Gln2792Leu)
c.5639A>T (p.Gln1880Leu)
c.4532A>T (p.Gln1511Leu)
c.8558A>T (p.Gln2853Leu)
c.4310A>T (p.Gln1437Leu)
c.7538A>T (p.Gln2513Leu)
8g.99819469A>CCA371776241VPS13Bc.8754A>C (p.Gln2918His)
n.8824A>C
c.*4436A>C (n.*4436A>C)
c.8679A>C (p.Gln2893His)
c.8751A>C (p.Gln2917His)
c.8676A>C (p.Gln2892His)
c.8376A>C (p.Gln2792His)
c.5640A>C (p.Gln1880His)
c.4533A>C (p.Gln1511His)
c.8559A>C (p.Gln2853His)
c.4311A>C (p.Gln1437His)
c.7539A>C (p.Gln2513His)
8g.99819469A>GCA462339471VPS13Bc.8754A>G (p.Gln2918=)
n.8824A>G
c.*4436A>G (n.*4436A>G)
c.8679A>G (p.Gln2893=)
c.8751A>G (p.Gln2917=)
c.8676A>G (p.Gln2892=)
c.8376A>G (p.Gln2792=)
c.5640A>G (p.Gln1880=)
c.4533A>G (p.Gln1511=)
c.8559A>G (p.Gln2853=)
c.4311A>G (p.Gln1437=)
c.7539A>G (p.Gln2513=)
 gnomAD v4
8g.99819469A>TCA371776242VPS13Bc.8754A>T (p.Gln2918His)
n.8824A>T
c.*4436A>T (n.*4436A>T)
c.8679A>T (p.Gln2893His)
c.8751A>T (p.Gln2917His)
c.8676A>T (p.Gln2892His)
c.8376A>T (p.Gln2792His)
c.5640A>T (p.Gln1880His)
c.4533A>T (p.Gln1511His)
c.8559A>T (p.Gln2853His)
c.4311A>T (p.Gln1437His)
c.7539A>T (p.Gln2513His)
8g.99819470A>CCA371776244VPS13Bc.8755A>C (p.Ile2919Leu)
n.8825A>C
c.*4437A>C (n.*4437A>C)
c.8680A>C (p.Ile2894Leu)
c.8752A>C (p.Ile2918Leu)
c.8677A>C (p.Ile2893Leu)
c.8377A>C (p.Ile2793Leu)
c.5641A>C (p.Ile1881Leu)
c.4534A>C (p.Ile1512Leu)
c.8560A>C (p.Ile2854Leu)
c.4312A>C (p.Ile1438Leu)
c.7540A>C (p.Ile2514Leu)
8g.99819470A>GCA371776246VPS13Bc.8755A>G (p.Ile2919Val)
n.8825A>G
c.*4437A>G (n.*4437A>G)
c.8680A>G (p.Ile2894Val)
c.8752A>G (p.Ile2918Val)
c.8677A>G (p.Ile2893Val)
c.8377A>G (p.Ile2793Val)
c.5641A>G (p.Ile1881Val)
c.4534A>G (p.Ile1512Val)
c.8560A>G (p.Ile2854Val)
c.4312A>G (p.Ile1438Val)
c.7540A>G (p.Ile2514Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99819470A>TCA371776248VPS13Bc.8755A>T (p.Ile2919Leu)
n.8825A>T
c.*4437A>T (n.*4437A>T)
c.8680A>T (p.Ile2894Leu)
c.8752A>T (p.Ile2918Leu)
c.8677A>T (p.Ile2893Leu)
c.8377A>T (p.Ile2793Leu)
c.5641A>T (p.Ile1881Leu)
c.4534A>T (p.Ile1512Leu)
c.8560A>T (p.Ile2854Leu)
c.4312A>T (p.Ile1438Leu)
c.7540A>T (p.Ile2514Leu)
8g.99819471T>ACA371776251VPS13Bc.8756T>A (p.Ile2919Lys)
n.8826T>A
c.*4438T>A (n.*4438T>A)
c.8681T>A (p.Ile2894Lys)
c.8753T>A (p.Ile2918Lys)
c.8678T>A (p.Ile2893Lys)
c.8378T>A (p.Ile2793Lys)
c.5642T>A (p.Ile1881Lys)
c.4535T>A (p.Ile1512Lys)
c.8561T>A (p.Ile2854Lys)
c.4313T>A (p.Ile1438Lys)
c.7541T>A (p.Ile2514Lys)
8g.99819471T>CCA371776252VPS13Bc.8756T>C (p.Ile2919Thr)
n.8826T>C
c.*4438T>C (n.*4438T>C)
c.8681T>C (p.Ile2894Thr)
c.8753T>C (p.Ile2918Thr)
c.8678T>C (p.Ile2893Thr)
c.8378T>C (p.Ile2793Thr)
c.5642T>C (p.Ile1881Thr)
c.4535T>C (p.Ile1512Thr)
c.8561T>C (p.Ile2854Thr)
c.4313T>C (p.Ile1438Thr)
c.7541T>C (p.Ile2514Thr)
 gnomAD v4
8g.99819471T>GCA371776254VPS13Bc.8756T>G (p.Ile2919Arg)
n.8826T>G
c.*4438T>G (n.*4438T>G)
c.8681T>G (p.Ile2894Arg)
c.8753T>G (p.Ile2918Arg)
c.8678T>G (p.Ile2893Arg)
c.8378T>G (p.Ile2793Arg)
c.5642T>G (p.Ile1881Arg)
c.4535T>G (p.Ile1512Arg)
c.8561T>G (p.Ile2854Arg)
c.4313T>G (p.Ile1438Arg)
c.7541T>G (p.Ile2514Arg)
 gnomAD v4
8g.99819472A>CCA462339472VPS13Bc.8757A>C (p.Ile2919=)
n.8827A>C
c.*4439A>C (n.*4439A>C)
c.8682A>C (p.Ile2894=)
c.8754A>C (p.Ile2918=)
c.8679A>C (p.Ile2893=)
c.8379A>C (p.Ile2793=)
c.5643A>C (p.Ile1881=)
c.4536A>C (p.Ile1512=)
c.8562A>C (p.Ile2854=)
c.4314A>C (p.Ile1438=)
c.7542A>C (p.Ile2514=)
8g.99819472A>GCA371776257VPS13Bc.8757A>G (p.Ile2919Met)
n.8827A>G
c.*4439A>G (n.*4439A>G)
c.8682A>G (p.Ile2894Met)
c.8754A>G (p.Ile2918Met)
c.8679A>G (p.Ile2893Met)
c.8379A>G (p.Ile2793Met)
c.5643A>G (p.Ile1881Met)
c.4536A>G (p.Ile1512Met)
c.8562A>G (p.Ile2854Met)
c.4314A>G (p.Ile1438Met)
c.7542A>G (p.Ile2514Met)
8g.99819472A>TCA462339473VPS13Bc.8757A>T (p.Ile2919=)
n.8827A>T
c.*4439A>T (n.*4439A>T)
c.8682A>T (p.Ile2894=)
c.8754A>T (p.Ile2918=)
c.8679A>T (p.Ile2893=)
c.8379A>T (p.Ile2793=)
c.5643A>T (p.Ile1881=)
c.4536A>T (p.Ile1512=)
c.8562A>T (p.Ile2854=)
c.4314A>T (p.Ile1438=)
c.7542A>T (p.Ile2514=)
8g.99819473G>ACA371776259VPS13Bc.8758G>A (p.Ala2920Thr)
n.8828G>A
c.*4440G>A (n.*4440G>A)
c.8683G>A (p.Ala2895Thr)
c.8755G>A (p.Ala2919Thr)
c.8680G>A (p.Ala2894Thr)
c.8380G>A (p.Ala2794Thr)
c.5644G>A (p.Ala1882Thr)
c.4537G>A (p.Ala1513Thr)
c.8563G>A (p.Ala2855Thr)
c.4315G>A (p.Ala1439Thr)
c.7543G>A (p.Ala2515Thr)
8g.99819473G>CCA371776261VPS13Bc.8758G>C (p.Ala2920Pro)
n.8828G>C
c.*4440G>C (n.*4440G>C)
c.8683G>C (p.Ala2895Pro)
c.8755G>C (p.Ala2919Pro)
c.8680G>C (p.Ala2894Pro)
c.8380G>C (p.Ala2794Pro)
c.5644G>C (p.Ala1882Pro)
c.4537G>C (p.Ala1513Pro)
c.8563G>C (p.Ala2855Pro)
c.4315G>C (p.Ala1439Pro)
c.7543G>C (p.Ala2515Pro)
8g.99819473G>TCA371776263VPS13Bc.8758G>T (p.Ala2920Ser)
n.8828G>T
c.*4440G>T (n.*4440G>T)
c.8683G>T (p.Ala2895Ser)
c.8755G>T (p.Ala2919Ser)
c.8680G>T (p.Ala2894Ser)
c.8380G>T (p.Ala2794Ser)
c.5644G>T (p.Ala1882Ser)
c.4537G>T (p.Ala1513Ser)
c.8563G>T (p.Ala2855Ser)
c.4315G>T (p.Ala1439Ser)
c.7543G>T (p.Ala2515Ser)
 gnomAD v4
8g.99819474C>ACA371776268VPS13Bc.8759C>A (p.Ala2920Asp)
n.8829C>A
c.*4441C>A (n.*4441C>A)
c.8684C>A (p.Ala2895Asp)
c.8756C>A (p.Ala2919Asp)
c.8681C>A (p.Ala2894Asp)
c.8381C>A (p.Ala2794Asp)
c.5645C>A (p.Ala1882Asp)
c.4538C>A (p.Ala1513Asp)
c.8564C>A (p.Ala2855Asp)
c.4316C>A (p.Ala1439Asp)
c.7544C>A (p.Ala2515Asp)
 gnomAD v4
8g.99819474C>GCA371776264VPS13Bc.8759C>G (p.Ala2920Gly)
n.8829C>G
c.*4441C>G (n.*4441C>G)
c.8684C>G (p.Ala2895Gly)
c.8756C>G (p.Ala2919Gly)
c.8681C>G (p.Ala2894Gly)
c.8381C>G (p.Ala2794Gly)
c.5645C>G (p.Ala1882Gly)
c.4538C>G (p.Ala1513Gly)
c.8564C>G (p.Ala2855Gly)
c.4316C>G (p.Ala1439Gly)
c.7544C>G (p.Ala2515Gly)
8g.99819474C>TCA371776266VPS13Bc.8759C>T (p.Ala2920Val)
n.8829C>T
c.*4441C>T (n.*4441C>T)
c.8684C>T (p.Ala2895Val)
c.8756C>T (p.Ala2919Val)
c.8681C>T (p.Ala2894Val)
c.8381C>T (p.Ala2794Val)
c.5645C>T (p.Ala1882Val)
c.4538C>T (p.Ala1513Val)
c.8564C>T (p.Ala2855Val)
c.4316C>T (p.Ala1439Val)
c.7544C>T (p.Ala2515Val)
8g.99819475C>ACA462339474VPS13Bc.8760C>A (p.Ala2920=)
n.8830C>A
c.*4442C>A (n.*4442C>A)
c.8685C>A (p.Ala2895=)
c.8757C>A (p.Ala2919=)
c.8682C>A (p.Ala2894=)
c.8382C>A (p.Ala2794=)
c.5646C>A (p.Ala1882=)
c.4539C>A (p.Ala1513=)
c.8565C>A (p.Ala2855=)
c.4317C>A (p.Ala1439=)
c.7545C>A (p.Ala2515=)
8g.99819475C>GCA462339475VPS13Bc.8760C>G (p.Ala2920=)
n.8830C>G
c.*4442C>G (n.*4442C>G)
c.8685C>G (p.Ala2895=)
c.8757C>G (p.Ala2919=)
c.8682C>G (p.Ala2894=)
c.8382C>G (p.Ala2794=)
c.5646C>G (p.Ala1882=)
c.4539C>G (p.Ala1513=)
c.8565C>G (p.Ala2855=)
c.4317C>G (p.Ala1439=)
c.7545C>G (p.Ala2515=)
8g.99819475C>TCA462339476VPS13Bc.8760C>T (p.Ala2920=)
n.8830C>T
c.*4442C>T (n.*4442C>T)
c.8685C>T (p.Ala2895=)
c.8757C>T (p.Ala2919=)
c.8682C>T (p.Ala2894=)
c.8382C>T (p.Ala2794=)
c.5646C>T (p.Ala1882=)
c.4539C>T (p.Ala1513=)
c.8565C>T (p.Ala2855=)
c.4317C>T (p.Ala1439=)
c.7545C>T (p.Ala2515=)
8g.99819476A>CCA371776269VPS13Bc.8761A>C (p.Thr2921Pro)
n.8831A>C
c.*4443A>C (n.*4443A>C)
c.8686A>C (p.Thr2896Pro)
c.8758A>C (p.Thr2920Pro)
c.8683A>C (p.Thr2895Pro)
c.8383A>C (p.Thr2795Pro)
c.5647A>C (p.Thr1883Pro)
c.4540A>C (p.Thr1514Pro)
c.8566A>C (p.Thr2856Pro)
c.4318A>C (p.Thr1440Pro)
c.7546A>C (p.Thr2516Pro)
8g.99819476A>GCA371776271VPS13Bc.8761A>G (p.Thr2921Ala)
n.8831A>G
c.*4443A>G (n.*4443A>G)
c.8686A>G (p.Thr2896Ala)
c.8758A>G (p.Thr2920Ala)
c.8683A>G (p.Thr2895Ala)
c.8383A>G (p.Thr2795Ala)
c.5647A>G (p.Thr1883Ala)
c.4540A>G (p.Thr1514Ala)
c.8566A>G (p.Thr2856Ala)
c.4318A>G (p.Thr1440Ala)
c.7546A>G (p.Thr2516Ala)
8g.99819476A>TCA371776273VPS13Bc.8761A>T (p.Thr2921Ser)
n.8831A>T
c.*4443A>T (n.*4443A>T)
c.8686A>T (p.Thr2896Ser)
c.8758A>T (p.Thr2920Ser)
c.8683A>T (p.Thr2895Ser)
c.8383A>T (p.Thr2795Ser)
c.5647A>T (p.Thr1883Ser)
c.4540A>T (p.Thr1514Ser)
c.8566A>T (p.Thr2856Ser)
c.4318A>T (p.Thr1440Ser)
c.7546A>T (p.Thr2516Ser)
8g.99819477C>ACA371776275VPS13Bc.8762C>A (p.Thr2921Asn)
n.8832C>A
c.*4444C>A (n.*4444C>A)
c.8687C>A (p.Thr2896Asn)
c.8759C>A (p.Thr2920Asn)
c.8684C>A (p.Thr2895Asn)
c.8384C>A (p.Thr2795Asn)
c.5648C>A (p.Thr1883Asn)
c.4541C>A (p.Thr1514Asn)
c.8567C>A (p.Thr2856Asn)
c.4319C>A (p.Thr1440Asn)
c.7547C>A (p.Thr2516Asn)
8g.99819477C>GCA371776277VPS13Bc.8762C>G (p.Thr2921Ser)
n.8832C>G
c.*4444C>G (n.*4444C>G)
c.8687C>G (p.Thr2896Ser)
c.8759C>G (p.Thr2920Ser)
c.8684C>G (p.Thr2895Ser)
c.8384C>G (p.Thr2795Ser)
c.5648C>G (p.Thr1883Ser)
c.4541C>G (p.Thr1514Ser)
c.8567C>G (p.Thr2856Ser)
c.4319C>G (p.Thr1440Ser)
c.7547C>G (p.Thr2516Ser)
8g.99819477C>TCA182328678VPS13Bc.8762C>T (p.Thr2921Ile)
n.8832C>T
c.*4444C>T (n.*4444C>T)
c.8687C>T (p.Thr2896Ile)
c.8759C>T (p.Thr2920Ile)
c.8684C>T (p.Thr2895Ile)
c.8384C>T (p.Thr2795Ile)
c.5648C>T (p.Thr1883Ile)
c.4541C>T (p.Thr1514Ile)
c.8567C>T (p.Thr2856Ile)
c.4319C>T (p.Thr1440Ile)
c.7547C>T (p.Thr2516Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.99819478T>ACA462339477VPS13Bc.8763T>A (p.Thr2921=)
n.8833T>A
c.*4445T>A (n.*4445T>A)
c.8688T>A (p.Thr2896=)
c.8760T>A (p.Thr2920=)
c.8685T>A (p.Thr2895=)
c.8385T>A (p.Thr2795=)
c.5649T>A (p.Thr1883=)
c.4542T>A (p.Thr1514=)
c.8568T>A (p.Thr2856=)
c.4320T>A (p.Thr1440=)
c.7548T>A (p.Thr2516=)
8g.99819478T>CCA462339478VPS13Bc.8763T>C (p.Thr2921=)
n.8833T>C
c.*4445T>C (n.*4445T>C)
c.8688T>C (p.Thr2896=)
c.8760T>C (p.Thr2920=)
c.8685T>C (p.Thr2895=)
c.8385T>C (p.Thr2795=)
c.5649T>C (p.Thr1883=)
c.4542T>C (p.Thr1514=)
c.8568T>C (p.Thr2856=)
c.4320T>C (p.Thr1440=)
c.7548T>C (p.Thr2516=)
8g.99819478T>GCA462339479VPS13Bc.8763T>G (p.Thr2921=)
n.8833T>G
c.*4445T>G (n.*4445T>G)
c.8688T>G (p.Thr2896=)
c.8760T>G (p.Thr2920=)
c.8685T>G (p.Thr2895=)
c.8385T>G (p.Thr2795=)
c.5649T>G (p.Thr1883=)
c.4542T>G (p.Thr1514=)
c.8568T>G (p.Thr2856=)
c.4320T>G (p.Thr1440=)
c.7548T>G (p.Thr2516=)
8g.99819478dupCA2497231222VPS13Bc.8763dup (p.Lys2922Ter)
n.8833dup
c.*4445dup (n.*4445dup)
c.8688dup (p.Lys2897Ter)
c.8760dup (p.Lys2921Ter)
c.8685dup (p.Lys2896Ter)
c.8385dup (p.Lys2796Ter)
c.5649dup (p.Lys1884Ter)
c.4542dup (p.Lys1515Ter)
c.8568dup (p.Lys2857Ter)
c.4320dup (p.Lys1441Ter)
c.7548dup (p.Lys2517Ter)
 dbSNP
8g.99819479A>CCA371776279VPS13Bc.8764A>C (p.Lys2922Gln)
n.8834A>C
c.*4446A>C (n.*4446A>C)
c.8689A>C (p.Lys2897Gln)
c.8761A>C (p.Lys2921Gln)
c.8686A>C (p.Lys2896Gln)
c.8386A>C (p.Lys2796Gln)
c.5650A>C (p.Lys1884Gln)
c.4543A>C (p.Lys1515Gln)
c.8569A>C (p.Lys2857Gln)
c.4321A>C (p.Lys1441Gln)
c.7549A>C (p.Lys2517Gln)
8g.99819479A>GCA371776281VPS13Bc.8764A>G (p.Lys2922Glu)
n.8834A>G
c.*4446A>G (n.*4446A>G)
c.8689A>G (p.Lys2897Glu)
c.8761A>G (p.Lys2921Glu)
c.8686A>G (p.Lys2896Glu)
c.8386A>G (p.Lys2796Glu)
c.5650A>G (p.Lys1884Glu)
c.4543A>G (p.Lys1515Glu)
c.8569A>G (p.Lys2857Glu)
c.4321A>G (p.Lys1441Glu)
c.7549A>G (p.Lys2517Glu)
8g.99819479A>TCA371776283VPS13Bc.8764A>T (p.Lys2922Ter)
n.8834A>T
c.*4446A>T (n.*4446A>T)
c.8689A>T (p.Lys2897Ter)
c.8761A>T (p.Lys2921Ter)
c.8686A>T (p.Lys2896Ter)
c.8386A>T (p.Lys2796Ter)
c.5650A>T (p.Lys1884Ter)
c.4543A>T (p.Lys1515Ter)
c.8569A>T (p.Lys2857Ter)
c.4321A>T (p.Lys1441Ter)
c.7549A>T (p.Lys2517Ter)
8g.99819480A>CCA371776291VPS13Bc.8765A>C (p.Lys2922Thr)
n.8835A>C
c.*4447A>C (n.*4447A>C)
c.8690A>C (p.Lys2897Thr)
c.8762A>C (p.Lys2921Thr)
c.8687A>C (p.Lys2896Thr)
c.8387A>C (p.Lys2796Thr)
c.5651A>C (p.Lys1884Thr)
c.4544A>C (p.Lys1515Thr)
c.8570A>C (p.Lys2857Thr)
c.4322A>C (p.Lys1441Thr)
c.7550A>C (p.Lys2517Thr)
8g.99819480A>GCA371776293VPS13Bc.8765A>G (p.Lys2922Arg)
n.8835A>G
c.*4447A>G (n.*4447A>G)
c.8690A>G (p.Lys2897Arg)
c.8762A>G (p.Lys2921Arg)
c.8687A>G (p.Lys2896Arg)
c.8387A>G (p.Lys2796Arg)
c.5651A>G (p.Lys1884Arg)
c.4544A>G (p.Lys1515Arg)
c.8570A>G (p.Lys2857Arg)
c.4322A>G (p.Lys1441Arg)
c.7550A>G (p.Lys2517Arg)
8g.99819480A>TCA371776295VPS13Bc.8765A>T (p.Lys2922Met)
n.8835A>T
c.*4447A>T (n.*4447A>T)
c.8690A>T (p.Lys2897Met)
c.8762A>T (p.Lys2921Met)
c.8687A>T (p.Lys2896Met)
c.8387A>T (p.Lys2796Met)
c.5651A>T (p.Lys1884Met)
c.4544A>T (p.Lys1515Met)
c.8570A>T (p.Lys2857Met)
c.4322A>T (p.Lys1441Met)
c.7550A>T (p.Lys2517Met)
 COSMIC COSMIC
8g.99819481G>ACA462339480VPS13Bc.8766G>A (p.Lys2922=)
n.8836G>A
c.*4448G>A (n.*4448G>A)
c.8691G>A (p.Lys2897=)
c.8763G>A (p.Lys2921=)
c.8688G>A (p.Lys2896=)
c.8388G>A (p.Lys2796=)
c.5652G>A (p.Lys1884=)
c.4545G>A (p.Lys1515=)
c.8571G>A (p.Lys2857=)
c.4323G>A (p.Lys1441=)
c.7551G>A (p.Lys2517=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819481G>CCA371776298VPS13Bc.8766G>C (p.Lys2922Asn)
n.8836G>C
c.*4448G>C (n.*4448G>C)
c.8691G>C (p.Lys2897Asn)
c.8763G>C (p.Lys2921Asn)
c.8688G>C (p.Lys2896Asn)
c.8388G>C (p.Lys2796Asn)
c.5652G>C (p.Lys1884Asn)
c.4545G>C (p.Lys1515Asn)
c.8571G>C (p.Lys2857Asn)
c.4323G>C (p.Lys1441Asn)
c.7551G>C (p.Lys2517Asn)
 gnomAD v4
8g.99819481G>TCA371776299VPS13Bc.8766G>T (p.Lys2922Asn)
n.8836G>T
c.*4448G>T (n.*4448G>T)
c.8691G>T (p.Lys2897Asn)
c.8763G>T (p.Lys2921Asn)
c.8688G>T (p.Lys2896Asn)
c.8388G>T (p.Lys2796Asn)
c.5652G>T (p.Lys1884Asn)
c.4545G>T (p.Lys1515Asn)
c.8571G>T (p.Lys2857Asn)
c.4323G>T (p.Lys1441Asn)
c.7551G>T (p.Lys2517Asn)
8g.99819482G>ACA182328680VPS13Bc.8767G>A (p.Val2923Ile)
n.8837G>A
c.*4449G>A (n.*4449G>A)
c.8692G>A (p.Val2898Ile)
c.8764G>A (p.Val2922Ile)
c.8689G>A (p.Val2897Ile)
c.8389G>A (p.Val2797Ile)
c.5653G>A (p.Val1885Ile)
c.4546G>A (p.Val1516Ile)
c.8572G>A (p.Val2858Ile)
c.4324G>A (p.Val1442Ile)
c.7552G>A (p.Val2518Ile)
 ClinVar dbSNP gnomAD v4
8g.99819482G>CCA371776303VPS13Bc.8767G>C (p.Val2923Leu)
n.8837G>C
c.*4449G>C (n.*4449G>C)
c.8692G>C (p.Val2898Leu)
c.8764G>C (p.Val2922Leu)
c.8689G>C (p.Val2897Leu)
c.8389G>C (p.Val2797Leu)
c.5653G>C (p.Val1885Leu)
c.4546G>C (p.Val1516Leu)
c.8572G>C (p.Val2858Leu)
c.4324G>C (p.Val1442Leu)
c.7552G>C (p.Val2518Leu)
8g.99819482G>TCA371776304VPS13Bc.8767G>T (p.Val2923Leu)
n.8837G>T
c.*4449G>T (n.*4449G>T)
c.8692G>T (p.Val2898Leu)
c.8764G>T (p.Val2922Leu)
c.8689G>T (p.Val2897Leu)
c.8389G>T (p.Val2797Leu)
c.5653G>T (p.Val1885Leu)
c.4546G>T (p.Val1516Leu)
c.8572G>T (p.Val2858Leu)
c.4324G>T (p.Val1442Leu)
c.7552G>T (p.Val2518Leu)
8g.99819483T>ACA371776307VPS13Bc.8768T>A (p.Val2923Glu)
n.8838T>A
c.*4450T>A (n.*4450T>A)
c.8693T>A (p.Val2898Glu)
c.8765T>A (p.Val2922Glu)
c.8690T>A (p.Val2897Glu)
c.8390T>A (p.Val2797Glu)
c.5654T>A (p.Val1885Glu)
c.4547T>A (p.Val1516Glu)
c.8573T>A (p.Val2858Glu)
c.4325T>A (p.Val1442Glu)
c.7553T>A (p.Val2518Glu)
8g.99819483T>CCA371776309VPS13Bc.8768T>C (p.Val2923Ala)
n.8838T>C
c.*4450T>C (n.*4450T>C)
c.8693T>C (p.Val2898Ala)
c.8765T>C (p.Val2922Ala)
c.8690T>C (p.Val2897Ala)
c.8390T>C (p.Val2797Ala)
c.5654T>C (p.Val1885Ala)
c.4547T>C (p.Val1516Ala)
c.8573T>C (p.Val2858Ala)
c.4325T>C (p.Val1442Ala)
c.7553T>C (p.Val2518Ala)
8g.99819483T>GCA371776310VPS13Bc.8768T>G (p.Val2923Gly)
n.8838T>G
c.*4450T>G (n.*4450T>G)
c.8693T>G (p.Val2898Gly)
c.8765T>G (p.Val2922Gly)
c.8690T>G (p.Val2897Gly)
c.8390T>G (p.Val2797Gly)
c.5654T>G (p.Val1885Gly)
c.4547T>G (p.Val1516Gly)
c.8573T>G (p.Val2858Gly)
c.4325T>G (p.Val1442Gly)
c.7553T>G (p.Val2518Gly)
8g.99819484A>CCA462339481VPS13Bc.8769A>C (p.Val2923=)
n.8839A>C
c.*4451A>C (n.*4451A>C)
c.8694A>C (p.Val2898=)
c.8766A>C (p.Val2922=)
c.8691A>C (p.Val2897=)
c.8391A>C (p.Val2797=)
c.5655A>C (p.Val1885=)
c.4548A>C (p.Val1516=)
c.8574A>C (p.Val2858=)
c.4326A>C (p.Val1442=)
c.7554A>C (p.Val2518=)
8g.99819484A>GCA462339484VPS13Bc.8769A>G (p.Val2923=)
n.8839A>G
c.*4451A>G (n.*4451A>G)
c.8694A>G (p.Val2898=)
c.8766A>G (p.Val2922=)
c.8691A>G (p.Val2897=)
c.8391A>G (p.Val2797=)
c.5655A>G (p.Val1885=)
c.4548A>G (p.Val1516=)
c.8574A>G (p.Val2858=)
c.4326A>G (p.Val1442=)
c.7554A>G (p.Val2518=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819484A>TCA462339482VPS13Bc.8769A>T (p.Val2923=)
n.8839A>T
c.*4451A>T (n.*4451A>T)
c.8694A>T (p.Val2898=)
c.8766A>T (p.Val2922=)
c.8691A>T (p.Val2897=)
c.8391A>T (p.Val2797=)
c.5655A>T (p.Val1885=)
c.4548A>T (p.Val1516=)
c.8574A>T (p.Val2858=)
c.4326A>T (p.Val1442=)
c.7554A>T (p.Val2518=)
 ClinVar
8g.99819485C>ACA371776312VPS13Bc.8770C>A (p.His2924Asn)
n.8840C>A
c.*4452C>A (n.*4452C>A)
c.8695C>A (p.His2899Asn)
c.8767C>A (p.His2923Asn)
c.8692C>A (p.His2898Asn)
c.8392C>A (p.His2798Asn)
c.5656C>A (p.His1886Asn)
c.4549C>A (p.His1517Asn)
c.8575C>A (p.His2859Asn)
c.4327C>A (p.His1443Asn)
c.7555C>A (p.His2519Asn)
8g.99819485C>GCA371776313VPS13Bc.8770C>G (p.His2924Asp)
n.8840C>G
c.*4452C>G (n.*4452C>G)
c.8695C>G (p.His2899Asp)
c.8767C>G (p.His2923Asp)
c.8692C>G (p.His2898Asp)
c.8392C>G (p.His2798Asp)
c.5656C>G (p.His1886Asp)
c.4549C>G (p.His1517Asp)
c.8575C>G (p.His2859Asp)
c.4327C>G (p.His1443Asp)
c.7555C>G (p.His2519Asp)
8g.99819485C>TCA182328681VPS13Bc.8770C>T (p.His2924Tyr)
n.8840C>T
c.*4452C>T (n.*4452C>T)
c.8695C>T (p.His2899Tyr)
c.8767C>T (p.His2923Tyr)
c.8692C>T (p.His2898Tyr)
c.8392C>T (p.His2798Tyr)
c.5656C>T (p.His1886Tyr)
c.4549C>T (p.His1517Tyr)
c.8575C>T (p.His2859Tyr)
c.4327C>T (p.His1443Tyr)
c.7555C>T (p.His2519Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819486A>CCA371776316VPS13Bc.8771A>C (p.His2924Pro)
n.8841A>C
c.*4453A>C (n.*4453A>C)
c.8696A>C (p.His2899Pro)
c.8768A>C (p.His2923Pro)
c.8693A>C (p.His2898Pro)
c.8393A>C (p.His2798Pro)
c.5657A>C (p.His1886Pro)
c.4550A>C (p.His1517Pro)
c.8576A>C (p.His2859Pro)
c.4328A>C (p.His1443Pro)
c.7556A>C (p.His2519Pro)
8g.99819486A>GCA371776318VPS13Bc.8771A>G (p.His2924Arg)
n.8841A>G
c.*4453A>G (n.*4453A>G)
c.8696A>G (p.His2899Arg)
c.8768A>G (p.His2923Arg)
c.8693A>G (p.His2898Arg)
c.8393A>G (p.His2798Arg)
c.5657A>G (p.His1886Arg)
c.4550A>G (p.His1517Arg)
c.8576A>G (p.His2859Arg)
c.4328A>G (p.His1443Arg)
c.7556A>G (p.His2519Arg)
8g.99819486A>TCA371776320VPS13Bc.8771A>T (p.His2924Leu)
n.8841A>T
c.*4453A>T (n.*4453A>T)
c.8696A>T (p.His2899Leu)
c.8768A>T (p.His2923Leu)
c.8693A>T (p.His2898Leu)
c.8393A>T (p.His2798Leu)
c.5657A>T (p.His1886Leu)
c.4550A>T (p.His1517Leu)
c.8576A>T (p.His2859Leu)
c.4328A>T (p.His1443Leu)
c.7556A>T (p.His2519Leu)
8g.99819487C>ACA371776325VPS13Bc.8772C>A (p.His2924Gln)
n.8842C>A
c.*4454C>A (n.*4454C>A)
c.8697C>A (p.His2899Gln)
c.8769C>A (p.His2923Gln)
c.8694C>A (p.His2898Gln)
c.8394C>A (p.His2798Gln)
c.5658C>A (p.His1886Gln)
c.4551C>A (p.His1517Gln)
c.8577C>A (p.His2859Gln)
c.4329C>A (p.His1443Gln)
c.7557C>A (p.His2519Gln)
 ClinVar dbSNP
8g.99819487C>GCA371776323VPS13Bc.8772C>G (p.His2924Gln)
n.8842C>G
c.*4454C>G (n.*4454C>G)
c.8697C>G (p.His2899Gln)
c.8769C>G (p.His2923Gln)
c.8694C>G (p.His2898Gln)
c.8394C>G (p.His2798Gln)
c.5658C>G (p.His1886Gln)
c.4551C>G (p.His1517Gln)
c.8577C>G (p.His2859Gln)
c.4329C>G (p.His1443Gln)
c.7557C>G (p.His2519Gln)
8g.99819487C>TCA4824524VPS13Bc.8772C>T (p.His2924=)
n.8842C>T
c.*4454C>T (n.*4454C>T)
c.8697C>T (p.His2899=)
c.8769C>T (p.His2923=)
c.8694C>T (p.His2898=)
c.8394C>T (p.His2798=)
c.5658C>T (p.His1886=)
c.4551C>T (p.His1517=)
c.8577C>T (p.His2859=)
c.4329C>T (p.His1443=)
c.7557C>T (p.His2519=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819488C>ACA371776326VPS13Bc.8773C>A (p.Pro2925Thr)
n.8843C>A
c.*4455C>A (n.*4455C>A)
c.8698C>A (p.Pro2900Thr)
c.8770C>A (p.Pro2924Thr)
c.8695C>A (p.Pro2899Thr)
c.8395C>A (p.Pro2799Thr)
c.5659C>A (p.Pro1887Thr)
c.4552C>A (p.Pro1518Thr)
c.8578C>A (p.Pro2860Thr)
c.4330C>A (p.Pro1444Thr)
c.7558C>A (p.Pro2520Thr)
8g.99819488C>GCA371776328VPS13Bc.8773C>G (p.Pro2925Ala)
n.8843C>G
c.*4455C>G (n.*4455C>G)
c.8698C>G (p.Pro2900Ala)
c.8770C>G (p.Pro2924Ala)
c.8695C>G (p.Pro2899Ala)
c.8395C>G (p.Pro2799Ala)
c.5659C>G (p.Pro1887Ala)
c.4552C>G (p.Pro1518Ala)
c.8578C>G (p.Pro2860Ala)
c.4330C>G (p.Pro1444Ala)
c.7558C>G (p.Pro2520Ala)
8g.99819488C>TCA371776330VPS13Bc.8773C>T (p.Pro2925Ser)
n.8843C>T
c.*4455C>T (n.*4455C>T)
c.8698C>T (p.Pro2900Ser)
c.8770C>T (p.Pro2924Ser)
c.8695C>T (p.Pro2899Ser)
c.8395C>T (p.Pro2799Ser)
c.5659C>T (p.Pro1887Ser)
c.4552C>T (p.Pro1518Ser)
c.8578C>T (p.Pro2860Ser)
c.4330C>T (p.Pro1444Ser)
c.7558C>T (p.Pro2520Ser)
8g.99819489C>ACA371776332VPS13Bc.8774C>A (p.Pro2925His)
n.8844C>A
c.*4456C>A (n.*4456C>A)
c.8699C>A (p.Pro2900His)
c.8771C>A (p.Pro2924His)
c.8696C>A (p.Pro2899His)
c.8396C>A (p.Pro2799His)
c.5660C>A (p.Pro1887His)
c.4553C>A (p.Pro1518His)
c.8579C>A (p.Pro2860His)
c.4331C>A (p.Pro1444His)
c.7559C>A (p.Pro2520His)
8g.99819489C>GCA371776334VPS13Bc.8774C>G (p.Pro2925Arg)
n.8844C>G
c.*4456C>G (n.*4456C>G)
c.8699C>G (p.Pro2900Arg)
c.8771C>G (p.Pro2924Arg)
c.8696C>G (p.Pro2899Arg)
c.8396C>G (p.Pro2799Arg)
c.5660C>G (p.Pro1887Arg)
c.4553C>G (p.Pro1518Arg)
c.8579C>G (p.Pro2860Arg)
c.4331C>G (p.Pro1444Arg)
c.7559C>G (p.Pro2520Arg)
8g.99819489C>TCA371776336VPS13Bc.8774C>T (p.Pro2925Leu)
n.8844C>T
c.*4456C>T (n.*4456C>T)
c.8699C>T (p.Pro2900Leu)
c.8771C>T (p.Pro2924Leu)
c.8696C>T (p.Pro2899Leu)
c.8396C>T (p.Pro2799Leu)
c.5660C>T (p.Pro1887Leu)
c.4553C>T (p.Pro1518Leu)
c.8579C>T (p.Pro2860Leu)
c.4331C>T (p.Pro1444Leu)
c.7559C>T (p.Pro2520Leu)
8g.99819490T>ACA462339485VPS13Bc.8775T>A (p.Pro2925=)
n.8845T>A
c.*4457T>A (n.*4457T>A)
c.8700T>A (p.Pro2900=)
c.8772T>A (p.Pro2924=)
c.8697T>A (p.Pro2899=)
c.8397T>A (p.Pro2799=)
c.5661T>A (p.Pro1887=)
c.4554T>A (p.Pro1518=)
c.8580T>A (p.Pro2860=)
c.4332T>A (p.Pro1444=)
c.7560T>A (p.Pro2520=)
8g.99819490T>CCA462339486VPS13Bc.8775T>C (p.Pro2925=)
n.8845T>C
c.*4457T>C (n.*4457T>C)
c.8700T>C (p.Pro2900=)
c.8772T>C (p.Pro2924=)
c.8697T>C (p.Pro2899=)
c.8397T>C (p.Pro2799=)
c.5661T>C (p.Pro1887=)
c.4554T>C (p.Pro1518=)
c.8580T>C (p.Pro2860=)
c.4332T>C (p.Pro1444=)
c.7560T>C (p.Pro2520=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819490T>GCA462339487VPS13Bc.8775T>G (p.Pro2925=)
n.8845T>G
c.*4457T>G (n.*4457T>G)
c.8700T>G (p.Pro2900=)
c.8772T>G (p.Pro2924=)
c.8697T>G (p.Pro2899=)
c.8397T>G (p.Pro2799=)
c.5661T>G (p.Pro1887=)
c.4554T>G (p.Pro1518=)
c.8580T>G (p.Pro2860=)
c.4332T>G (p.Pro1444=)
c.7560T>G (p.Pro2520=)
8g.99819491G>ACA371776338VPS13Bc.8776G>A (p.Gly2926Arg)
n.8846G>A
c.*4458G>A (n.*4458G>A)
c.8701G>A (p.Gly2901Arg)
c.8773G>A (p.Gly2925Arg)
c.8698G>A (p.Gly2900Arg)
c.8398G>A (p.Gly2800Arg)
c.5662G>A (p.Gly1888Arg)
c.4555G>A (p.Gly1519Arg)
c.8581G>A (p.Gly2861Arg)
c.4333G>A (p.Gly1445Arg)
c.7561G>A (p.Gly2521Arg)
 gnomAD v4
8g.99819491G>CCA371776340VPS13Bc.8776G>C (p.Gly2926Arg)
n.8846G>C
c.*4458G>C (n.*4458G>C)
c.8701G>C (p.Gly2901Arg)
c.8773G>C (p.Gly2925Arg)
c.8698G>C (p.Gly2900Arg)
c.8398G>C (p.Gly2800Arg)
c.5662G>C (p.Gly1888Arg)
c.4555G>C (p.Gly1519Arg)
c.8581G>C (p.Gly2861Arg)
c.4333G>C (p.Gly1445Arg)
c.7561G>C (p.Gly2521Arg)
 gnomAD v4
8g.99819491G>TCA371776342VPS13Bc.8776G>T (p.Gly2926Ter)
n.8846G>T
c.*4458G>T (n.*4458G>T)
c.8701G>T (p.Gly2901Ter)
c.8773G>T (p.Gly2925Ter)
c.8698G>T (p.Gly2900Ter)
c.8398G>T (p.Gly2800Ter)
c.5662G>T (p.Gly1888Ter)
c.4555G>T (p.Gly1519Ter)
c.8581G>T (p.Gly2861Ter)
c.4333G>T (p.Gly1445Ter)
c.7561G>T (p.Gly2521Ter)
8g.99819492G>ACA371776344VPS13Bc.8777G>A (p.Gly2926Glu)
n.8847G>A
c.*4459G>A (n.*4459G>A)
c.8702G>A (p.Gly2901Glu)
c.8774G>A (p.Gly2925Glu)
c.8699G>A (p.Gly2900Glu)
c.8399G>A (p.Gly2800Glu)
c.5663G>A (p.Gly1888Glu)
c.4556G>A (p.Gly1519Glu)
c.8582G>A (p.Gly2861Glu)
c.4334G>A (p.Gly1445Glu)
c.7562G>A (p.Gly2521Glu)
8g.99819492G>CCA371776346VPS13Bc.8777G>C (p.Gly2926Ala)
n.8847G>C
c.*4459G>C (n.*4459G>C)
c.8702G>C (p.Gly2901Ala)
c.8774G>C (p.Gly2925Ala)
c.8699G>C (p.Gly2900Ala)
c.8399G>C (p.Gly2800Ala)
c.5663G>C (p.Gly1888Ala)
c.4556G>C (p.Gly1519Ala)
c.8582G>C (p.Gly2861Ala)
c.4334G>C (p.Gly1445Ala)
c.7562G>C (p.Gly2521Ala)
8g.99819492G>TCA371776348VPS13Bc.8777G>T (p.Gly2926Val)
n.8847G>T
c.*4459G>T (n.*4459G>T)
c.8702G>T (p.Gly2901Val)
c.8774G>T (p.Gly2925Val)
c.8699G>T (p.Gly2900Val)
c.8399G>T (p.Gly2800Val)
c.5663G>T (p.Gly1888Val)
c.4556G>T (p.Gly1519Val)
c.8582G>T (p.Gly2861Val)
c.4334G>T (p.Gly1445Val)
c.7562G>T (p.Gly2521Val)
 COSMIC COSMIC
8g.99819493A>CCA462339489VPS13Bc.8778A>C (p.Gly2926=)
n.8848A>C
c.*4460A>C (n.*4460A>C)
c.8703A>C (p.Gly2901=)
c.8775A>C (p.Gly2925=)
c.8700A>C (p.Gly2900=)
c.8400A>C (p.Gly2800=)
c.5664A>C (p.Gly1888=)
c.4557A>C (p.Gly1519=)
c.8583A>C (p.Gly2861=)
c.4335A>C (p.Gly1445=)
c.7563A>C (p.Gly2521=)
8g.99819493A>GCA462339490VPS13Bc.8778A>G (p.Gly2926=)
n.8848A>G
c.*4460A>G (n.*4460A>G)
c.8703A>G (p.Gly2901=)
c.8775A>G (p.Gly2925=)
c.8700A>G (p.Gly2900=)
c.8400A>G (p.Gly2800=)
c.5664A>G (p.Gly1888=)
c.4557A>G (p.Gly1519=)
c.8583A>G (p.Gly2861=)
c.4335A>G (p.Gly1445=)
c.7563A>G (p.Gly2521=)
 ClinVar dbSNP gnomAD v4
8g.99819493A>TCA462339491VPS13Bc.8778A>T (p.Gly2926=)
n.8848A>T
c.*4460A>T (n.*4460A>T)
c.8703A>T (p.Gly2901=)
c.8775A>T (p.Gly2925=)
c.8700A>T (p.Gly2900=)
c.8400A>T (p.Gly2800=)
c.5664A>T (p.Gly1888=)
c.4557A>T (p.Gly1519=)
c.8583A>T (p.Gly2861=)
c.4335A>T (p.Gly1445=)
c.7563A>T (p.Gly2521=)
8g.99819494G>ACA371776353VPS13Bc.8779G>A (p.Gly2927Ser)
n.8849G>A
c.*4461G>A (n.*4461G>A)
c.8704G>A (p.Gly2902Ser)
c.8776G>A (p.Gly2926Ser)
c.8701G>A (p.Gly2901Ser)
c.8401G>A (p.Gly2801Ser)
c.5665G>A (p.Gly1889Ser)
c.4558G>A (p.Gly1520Ser)
c.8584G>A (p.Gly2862Ser)
c.4336G>A (p.Gly1446Ser)
c.7564G>A (p.Gly2522Ser)
8g.99819494G>CCA371776351VPS13Bc.8779G>C (p.Gly2927Arg)
n.8849G>C
c.*4461G>C (n.*4461G>C)
c.8704G>C (p.Gly2902Arg)
c.8776G>C (p.Gly2926Arg)
c.8701G>C (p.Gly2901Arg)
c.8401G>C (p.Gly2801Arg)
c.5665G>C (p.Gly1889Arg)
c.4558G>C (p.Gly1520Arg)
c.8584G>C (p.Gly2862Arg)
c.4336G>C (p.Gly1446Arg)
c.7564G>C (p.Gly2522Arg)
8g.99819494G>TCA371776350VPS13Bc.8779G>T (p.Gly2927Cys)
n.8849G>T
c.*4461G>T (n.*4461G>T)
c.8704G>T (p.Gly2902Cys)
c.8776G>T (p.Gly2926Cys)
c.8701G>T (p.Gly2901Cys)
c.8401G>T (p.Gly2801Cys)
c.5665G>T (p.Gly1889Cys)
c.4558G>T (p.Gly1520Cys)
c.8584G>T (p.Gly2862Cys)
c.4336G>T (p.Gly1446Cys)
c.7564G>T (p.Gly2522Cys)
8g.99819495G>ACA4824525VPS13Bc.8780G>A (p.Gly2927Asp)
n.8850G>A
c.*4462G>A (n.*4462G>A)
c.8705G>A (p.Gly2902Asp)
c.8777G>A (p.Gly2926Asp)
c.8702G>A (p.Gly2901Asp)
c.8402G>A (p.Gly2801Asp)
c.5666G>A (p.Gly1889Asp)
c.4559G>A (p.Gly1520Asp)
c.8585G>A (p.Gly2862Asp)
c.4337G>A (p.Gly1446Asp)
c.7565G>A (p.Gly2522Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819495G>CCA371776358VPS13Bc.8780G>C (p.Gly2927Ala)
n.8850G>C
c.*4462G>C (n.*4462G>C)
c.8705G>C (p.Gly2902Ala)
c.8777G>C (p.Gly2926Ala)
c.8702G>C (p.Gly2901Ala)
c.8402G>C (p.Gly2801Ala)
c.5666G>C (p.Gly1889Ala)
c.4559G>C (p.Gly1520Ala)
c.8585G>C (p.Gly2862Ala)
c.4337G>C (p.Gly1446Ala)
c.7565G>C (p.Gly2522Ala)
8g.99819495G>TCA371776357VPS13Bc.8780G>T (p.Gly2927Val)
n.8850G>T
c.*4462G>T (n.*4462G>T)
c.8705G>T (p.Gly2902Val)
c.8777G>T (p.Gly2926Val)
c.8702G>T (p.Gly2901Val)
c.8402G>T (p.Gly2801Val)
c.5666G>T (p.Gly1889Val)
c.4559G>T (p.Gly1520Val)
c.8585G>T (p.Gly2862Val)
c.4337G>T (p.Gly1446Val)
c.7565G>T (p.Gly2522Val)
 dbSNP gnomAD v3 gnomAD v4
8g.99819496C>ACA462339492VPS13Bc.8781C>A (p.Gly2927=)
n.8851C>A
c.*4463C>A (n.*4463C>A)
c.8706C>A (p.Gly2902=)
c.8778C>A (p.Gly2926=)
c.8703C>A (p.Gly2901=)
c.8403C>A (p.Gly2801=)
c.5667C>A (p.Gly1889=)
c.4560C>A (p.Gly1520=)
c.8586C>A (p.Gly2862=)
c.4338C>A (p.Gly1446=)
c.7566C>A (p.Gly2522=)
8g.99819496C>GCA462339493VPS13Bc.8781C>G (p.Gly2927=)
n.8851C>G
c.*4463C>G (n.*4463C>G)
c.8706C>G (p.Gly2902=)
c.8778C>G (p.Gly2926=)
c.8703C>G (p.Gly2901=)
c.8403C>G (p.Gly2801=)
c.5667C>G (p.Gly1889=)
c.4560C>G (p.Gly1520=)
c.8586C>G (p.Gly2862=)
c.4338C>G (p.Gly1446=)
c.7566C>G (p.Gly2522=)
8g.99819496C>TCA462339494VPS13Bc.8781C>T (p.Gly2927=)
n.8851C>T
c.*4463C>T (n.*4463C>T)
c.8706C>T (p.Gly2902=)
c.8778C>T (p.Gly2926=)
c.8703C>T (p.Gly2901=)
c.8403C>T (p.Gly2801=)
c.5667C>T (p.Gly1889=)
c.4560C>T (p.Gly1520=)
c.8586C>T (p.Gly2862=)
c.4338C>T (p.Gly1446=)
c.7566C>T (p.Gly2522=)
 ClinVar dbSNP
8g.99819497A>CCA371776360VPS13Bc.8782A>C (p.Thr2928Pro)
n.8852A>C
c.*4464A>C (n.*4464A>C)
c.8707A>C (p.Thr2903Pro)
c.8779A>C (p.Thr2927Pro)
c.8704A>C (p.Thr2902Pro)
c.8404A>C (p.Thr2802Pro)
c.5668A>C (p.Thr1890Pro)
c.4561A>C (p.Thr1521Pro)
c.8587A>C (p.Thr2863Pro)
c.4339A>C (p.Thr1447Pro)
c.7567A>C (p.Thr2523Pro)
8g.99819497A>GCA371776362VPS13Bc.8782A>G (p.Thr2928Ala)
n.8852A>G
c.*4464A>G (n.*4464A>G)
c.8707A>G (p.Thr2903Ala)
c.8779A>G (p.Thr2927Ala)
c.8704A>G (p.Thr2902Ala)
c.8404A>G (p.Thr2802Ala)
c.5668A>G (p.Thr1890Ala)
c.4561A>G (p.Thr1521Ala)
c.8587A>G (p.Thr2863Ala)
c.4339A>G (p.Thr1447Ala)
c.7567A>G (p.Thr2523Ala)
8g.99819497A>TCA371776363VPS13Bc.8782A>T (p.Thr2928Ser)
n.8852A>T
c.*4464A>T (n.*4464A>T)
c.8707A>T (p.Thr2903Ser)
c.8779A>T (p.Thr2927Ser)
c.8704A>T (p.Thr2902Ser)
c.8404A>T (p.Thr2802Ser)
c.5668A>T (p.Thr1890Ser)
c.4561A>T (p.Thr1521Ser)
c.8587A>T (p.Thr2863Ser)
c.4339A>T (p.Thr1447Ser)
c.7567A>T (p.Thr2523Ser)
8g.99819498C>ACA371776365VPS13Bc.8783C>A (p.Thr2928Lys)
n.8853C>A
c.*4465C>A (n.*4465C>A)
c.8708C>A (p.Thr2903Lys)
c.8780C>A (p.Thr2927Lys)
c.8705C>A (p.Thr2902Lys)
c.8405C>A (p.Thr2802Lys)
c.5669C>A (p.Thr1890Lys)
c.4562C>A (p.Thr1521Lys)
c.8588C>A (p.Thr2863Lys)
c.4340C>A (p.Thr1447Lys)
c.7568C>A (p.Thr2523Lys)
8g.99819498C>GCA182328700VPS13Bc.8783C>G (p.Thr2928Arg)
n.8853C>G
c.*4465C>G (n.*4465C>G)
c.8708C>G (p.Thr2903Arg)
c.8780C>G (p.Thr2927Arg)
c.8705C>G (p.Thr2902Arg)
c.8405C>G (p.Thr2802Arg)
c.5669C>G (p.Thr1890Arg)
c.4562C>G (p.Thr1521Arg)
c.8588C>G (p.Thr2863Arg)
c.4340C>G (p.Thr1447Arg)
c.7568C>G (p.Thr2523Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.99819498C>TCA371776368VPS13Bc.8783C>T (p.Thr2928Ile)
n.8853C>T
c.*4465C>T (n.*4465C>T)
c.8708C>T (p.Thr2903Ile)
c.8780C>T (p.Thr2927Ile)
c.8705C>T (p.Thr2902Ile)
c.8405C>T (p.Thr2802Ile)
c.5669C>T (p.Thr1890Ile)
c.4562C>T (p.Thr1521Ile)
c.8588C>T (p.Thr2863Ile)
c.4340C>T (p.Thr1447Ile)
c.7568C>T (p.Thr2523Ile)
 dbSNP
8g.99819499A>CCA462339495VPS13Bc.8784A>C (p.Thr2928=)
n.8854A>C
c.*4466A>C (n.*4466A>C)
c.8709A>C (p.Thr2903=)
c.8781A>C (p.Thr2927=)
c.8706A>C (p.Thr2902=)
c.8406A>C (p.Thr2802=)
c.5670A>C (p.Thr1890=)
c.4563A>C (p.Thr1521=)
c.8589A>C (p.Thr2863=)
c.4341A>C (p.Thr1447=)
c.7569A>C (p.Thr2523=)
8g.99819499A>GCA4824526VPS13Bc.8784A>G (p.Thr2928=)
n.8854A>G
c.*4466A>G (n.*4466A>G)
c.8709A>G (p.Thr2903=)
c.8781A>G (p.Thr2927=)
c.8706A>G (p.Thr2902=)
c.8406A>G (p.Thr2802=)
c.5670A>G (p.Thr1890=)
c.4563A>G (p.Thr1521=)
c.8589A>G (p.Thr2863=)
c.4341A>G (p.Thr1447=)
c.7569A>G (p.Thr2523=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819499A>TCA462339496VPS13Bc.8784A>T (p.Thr2928=)
n.8854A>T
c.*4466A>T (n.*4466A>T)
c.8709A>T (p.Thr2903=)
c.8781A>T (p.Thr2927=)
c.8706A>T (p.Thr2902=)
c.8406A>T (p.Thr2802=)
c.5670A>T (p.Thr1890=)
c.4563A>T (p.Thr1521=)
c.8589A>T (p.Thr2863=)
c.4341A>T (p.Thr1447=)
c.7569A>T (p.Thr2523=)
 ClinVar gnomAD v4
8g.99819500delCA2580079246VPS13Bc.8785del (p.Val2929LeufsTer?)
n.8855del
c.*4467del (n.*4467del)
c.8710del (p.Val2904LeufsTer?)
c.8782del (p.Val2928LeufsTer?)
c.8707del (p.Val2903LeufsTer?)
c.8407del (p.Val2803LeufsTer?)
c.5671del (p.Val1891LeufsTer?)
c.4564del (p.Val1522LeufsTer?)
c.8590del (p.Val2864LeufsTer?)
c.4342del (p.Val1448LeufsTer?)
c.7570del (p.Val2524LeufsTer?)
 ClinVar
8g.99819500G>ACA4824527VPS13Bc.8785G>A (p.Val2929Ile)
n.8855G>A
c.*4467G>A (n.*4467G>A)
c.8710G>A (p.Val2904Ile)
c.8782G>A (p.Val2928Ile)
c.8707G>A (p.Val2903Ile)
c.8407G>A (p.Val2803Ile)
c.5671G>A (p.Val1891Ile)
c.4564G>A (p.Val1522Ile)
c.8590G>A (p.Val2864Ile)
c.4342G>A (p.Val1448Ile)
c.7570G>A (p.Val2524Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819500G>CCA371776372VPS13Bc.8785G>C (p.Val2929Leu)
n.8855G>C
c.*4467G>C (n.*4467G>C)
c.8710G>C (p.Val2904Leu)
c.8782G>C (p.Val2928Leu)
c.8707G>C (p.Val2903Leu)
c.8407G>C (p.Val2803Leu)
c.5671G>C (p.Val1891Leu)
c.4564G>C (p.Val1522Leu)
c.8590G>C (p.Val2864Leu)
c.4342G>C (p.Val1448Leu)
c.7570G>C (p.Val2524Leu)
8g.99819500G>TCA371776374VPS13Bc.8785G>T (p.Val2929Phe)
n.8855G>T
c.*4467G>T (n.*4467G>T)
c.8710G>T (p.Val2904Phe)
c.8782G>T (p.Val2928Phe)
c.8707G>T (p.Val2903Phe)
c.8407G>T (p.Val2803Phe)
c.5671G>T (p.Val1891Phe)
c.4564G>T (p.Val1522Phe)
c.8590G>T (p.Val2864Phe)
c.4342G>T (p.Val1448Phe)
c.7570G>T (p.Val2524Phe)
8g.99819501T>ACA4824528VPS13Bc.8786T>A (p.Val2929Asp)
n.8856T>A
c.*4468T>A (n.*4468T>A)
c.8711T>A (p.Val2904Asp)
c.8783T>A (p.Val2928Asp)
c.8708T>A (p.Val2903Asp)
c.8408T>A (p.Val2803Asp)
c.5672T>A (p.Val1891Asp)
c.4565T>A (p.Val1522Asp)
c.8591T>A (p.Val2864Asp)
c.4343T>A (p.Val1448Asp)
c.7571T>A (p.Val2524Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819501T>CCA371776376VPS13Bc.8786T>C (p.Val2929Ala)
n.8856T>C
c.*4468T>C (n.*4468T>C)
c.8711T>C (p.Val2904Ala)
c.8783T>C (p.Val2928Ala)
c.8708T>C (p.Val2903Ala)
c.8408T>C (p.Val2803Ala)
c.5672T>C (p.Val1891Ala)
c.4565T>C (p.Val1522Ala)
c.8591T>C (p.Val2864Ala)
c.4343T>C (p.Val1448Ala)
c.7571T>C (p.Val2524Ala)
8g.99819501T>GCA371776377VPS13Bc.8786T>G (p.Val2929Gly)
n.8856T>G
c.*4468T>G (n.*4468T>G)
c.8711T>G (p.Val2904Gly)
c.8783T>G (p.Val2928Gly)
c.8708T>G (p.Val2903Gly)
c.8408T>G (p.Val2803Gly)
c.5672T>G (p.Val1891Gly)
c.4565T>G (p.Val1522Gly)
c.8591T>G (p.Val2864Gly)
c.4343T>G (p.Val1448Gly)
c.7571T>G (p.Val2524Gly)
8g.99819502T>ACA462339497VPS13Bc.8787T>A (p.Val2929=)
n.8857T>A
c.*4469T>A (n.*4469T>A)
c.8712T>A (p.Val2904=)
c.8784T>A (p.Val2928=)
c.8709T>A (p.Val2903=)
c.8409T>A (p.Val2803=)
c.5673T>A (p.Val1891=)
c.4566T>A (p.Val1522=)
c.8592T>A (p.Val2864=)
c.4344T>A (p.Val1448=)
c.7572T>A (p.Val2524=)
8g.99819502T>CCA462339498VPS13Bc.8787T>C (p.Val2929=)
n.8857T>C
c.*4469T>C (n.*4469T>C)
c.8712T>C (p.Val2904=)
c.8784T>C (p.Val2928=)
c.8709T>C (p.Val2903=)
c.8409T>C (p.Val2803=)
c.5673T>C (p.Val1891=)
c.4566T>C (p.Val1522=)
c.8592T>C (p.Val2864=)
c.4344T>C (p.Val1448=)
c.7572T>C (p.Val2524=)
8g.99819502T>GCA462339499VPS13Bc.8787T>G (p.Val2929=)
n.8857T>G
c.*4469T>G (n.*4469T>G)
c.8712T>G (p.Val2904=)
c.8784T>G (p.Val2928=)
c.8709T>G (p.Val2903=)
c.8409T>G (p.Val2803=)
c.5673T>G (p.Val1891=)
c.4566T>G (p.Val1522=)
c.8592T>G (p.Val2864=)
c.4344T>G (p.Val1448=)
c.7572T>G (p.Val2524=)
8g.99819503A>CCA4824529VPS13Bc.8788A>C (p.Asn2930His)
n.8858A>C
c.*4470A>C (n.*4470A>C)
c.8713A>C (p.Asn2905His)
c.8785A>C (p.Asn2929His)
c.8710A>C (p.Asn2904His)
c.8410A>C (p.Asn2804His)
c.5674A>C (p.Asn1892His)
c.4567A>C (p.Asn1523His)
c.8593A>C (p.Asn2865His)
c.4345A>C (p.Asn1449His)
c.7573A>C (p.Asn2525His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819503A>GCA371776382VPS13Bc.8788A>G (p.Asn2930Asp)
n.8858A>G
c.*4470A>G (n.*4470A>G)
c.8713A>G (p.Asn2905Asp)
c.8785A>G (p.Asn2929Asp)
c.8710A>G (p.Asn2904Asp)
c.8410A>G (p.Asn2804Asp)
c.5674A>G (p.Asn1892Asp)
c.4567A>G (p.Asn1523Asp)
c.8593A>G (p.Asn2865Asp)
c.4345A>G (p.Asn1449Asp)
c.7573A>G (p.Asn2525Asp)
 dbSNP gnomAD v4
8g.99819503A>TCA371776381VPS13Bc.8788A>T (p.Asn2930Tyr)
n.8858A>T
c.*4470A>T (n.*4470A>T)
c.8713A>T (p.Asn2905Tyr)
c.8785A>T (p.Asn2929Tyr)
c.8710A>T (p.Asn2904Tyr)
c.8410A>T (p.Asn2804Tyr)
c.5674A>T (p.Asn1892Tyr)
c.4567A>T (p.Asn1523Tyr)
c.8593A>T (p.Asn2865Tyr)
c.4345A>T (p.Asn1449Tyr)
c.7573A>T (p.Asn2525Tyr)
8g.99819504A>CCA371776385VPS13Bc.8789A>C (p.Asn2930Thr)
n.8859A>C
c.*4471A>C (n.*4471A>C)
c.8714A>C (p.Asn2905Thr)
c.8786A>C (p.Asn2929Thr)
c.8711A>C (p.Asn2904Thr)
c.8411A>C (p.Asn2804Thr)
c.5675A>C (p.Asn1892Thr)
c.4568A>C (p.Asn1523Thr)
c.8594A>C (p.Asn2865Thr)
c.4346A>C (p.Asn1449Thr)
c.7574A>C (p.Asn2525Thr)
8g.99819504A>GCA371776386VPS13Bc.8789A>G (p.Asn2930Ser)
n.8859A>G
c.*4471A>G (n.*4471A>G)
c.8714A>G (p.Asn2905Ser)
c.8786A>G (p.Asn2929Ser)
c.8711A>G (p.Asn2904Ser)
c.8411A>G (p.Asn2804Ser)
c.5675A>G (p.Asn1892Ser)
c.4568A>G (p.Asn1523Ser)
c.8594A>G (p.Asn2865Ser)
c.4346A>G (p.Asn1449Ser)
c.7574A>G (p.Asn2525Ser)
 gnomAD v4
8g.99819504A>TCA371776388VPS13Bc.8789A>T (p.Asn2930Ile)
n.8859A>T
c.*4471A>T (n.*4471A>T)
c.8714A>T (p.Asn2905Ile)
c.8786A>T (p.Asn2929Ile)
c.8711A>T (p.Asn2904Ile)
c.8411A>T (p.Asn2804Ile)
c.5675A>T (p.Asn1892Ile)
c.4568A>T (p.Asn1523Ile)
c.8594A>T (p.Asn2865Ile)
c.4346A>T (p.Asn1449Ile)
c.7574A>T (p.Asn2525Ile)
8g.99819505T>ACA371776391VPS13Bc.8790T>A (p.Asn2930Lys)
n.8860T>A
c.*4472T>A (n.*4472T>A)
c.8715T>A (p.Asn2905Lys)
c.8787T>A (p.Asn2929Lys)
c.8712T>A (p.Asn2904Lys)
c.8412T>A (p.Asn2804Lys)
c.5676T>A (p.Asn1892Lys)
c.4569T>A (p.Asn1523Lys)
c.8595T>A (p.Asn2865Lys)
c.4347T>A (p.Asn1449Lys)
c.7575T>A (p.Asn2525Lys)
8g.99819505T>CCA462339501VPS13Bc.8790T>C (p.Asn2930=)
n.8860T>C
c.*4472T>C (n.*4472T>C)
c.8715T>C (p.Asn2905=)
c.8787T>C (p.Asn2929=)
c.8712T>C (p.Asn2904=)
c.8412T>C (p.Asn2804=)
c.5676T>C (p.Asn1892=)
c.4569T>C (p.Asn1523=)
c.8595T>C (p.Asn2865=)
c.4347T>C (p.Asn1449=)
c.7575T>C (p.Asn2525=)
 gnomAD v4
8g.99819505T>GCA371776392VPS13Bc.8790T>G (p.Asn2930Lys)
n.8860T>G
c.*4472T>G (n.*4472T>G)
c.8715T>G (p.Asn2905Lys)
c.8787T>G (p.Asn2929Lys)
c.8712T>G (p.Asn2904Lys)
c.8412T>G (p.Asn2804Lys)
c.5676T>G (p.Asn1892Lys)
c.4569T>G (p.Asn1523Lys)
c.8595T>G (p.Asn2865Lys)
c.4347T>G (p.Asn1449Lys)
c.7575T>G (p.Asn2525Lys)
8g.99819506C>ACA371776394VPS13Bc.8791C>A (p.Gln2931Lys)
n.8861C>A
c.*4473C>A (n.*4473C>A)
c.8716C>A (p.Gln2906Lys)
c.8788C>A (p.Gln2930Lys)
c.8713C>A (p.Gln2905Lys)
c.8413C>A (p.Gln2805Lys)
c.5677C>A (p.Gln1893Lys)
c.4570C>A (p.Gln1524Lys)
c.8596C>A (p.Gln2866Lys)
c.4348C>A (p.Gln1450Lys)
c.7576C>A (p.Gln2526Lys)
8g.99819506C>GCA371776396VPS13Bc.8791C>G (p.Gln2931Glu)
n.8861C>G
c.*4473C>G (n.*4473C>G)
c.8716C>G (p.Gln2906Glu)
c.8788C>G (p.Gln2930Glu)
c.8713C>G (p.Gln2905Glu)
c.8413C>G (p.Gln2805Glu)
c.5677C>G (p.Gln1893Glu)
c.4570C>G (p.Gln1524Glu)
c.8596C>G (p.Gln2866Glu)
c.4348C>G (p.Gln1450Glu)
c.7576C>G (p.Gln2526Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.99819506C>TCA371776397VPS13Bc.8791C>T (p.Gln2931Ter)
n.8861C>T
c.*4473C>T (n.*4473C>T)
c.8716C>T (p.Gln2906Ter)
c.8788C>T (p.Gln2930Ter)
c.8713C>T (p.Gln2905Ter)
c.8413C>T (p.Gln2805Ter)
c.5677C>T (p.Gln1893Ter)
c.4570C>T (p.Gln1524Ter)
c.8596C>T (p.Gln2866Ter)
c.4348C>T (p.Gln1450Ter)
c.7576C>T (p.Gln2526Ter)
8g.99819507A>CCA371776399VPS13Bc.8792A>C (p.Gln2931Pro)
n.8862A>C
c.*4474A>C (n.*4474A>C)
c.8717A>C (p.Gln2906Pro)
c.8789A>C (p.Gln2930Pro)
c.8714A>C (p.Gln2905Pro)
c.8414A>C (p.Gln2805Pro)
c.5678A>C (p.Gln1893Pro)
c.4571A>C (p.Gln1524Pro)
c.8597A>C (p.Gln2866Pro)
c.4349A>C (p.Gln1450Pro)
c.7577A>C (p.Gln2526Pro)
8g.99819507A>GCA371776401VPS13Bc.8792A>G (p.Gln2931Arg)
n.8862A>G
c.*4474A>G (n.*4474A>G)
c.8717A>G (p.Gln2906Arg)
c.8789A>G (p.Gln2930Arg)
c.8714A>G (p.Gln2905Arg)
c.8414A>G (p.Gln2805Arg)
c.5678A>G (p.Gln1893Arg)
c.4571A>G (p.Gln1524Arg)
c.8597A>G (p.Gln2866Arg)
c.4349A>G (p.Gln1450Arg)
c.7577A>G (p.Gln2526Arg)
 gnomAD v4
8g.99819507A>TCA371776403VPS13Bc.8792A>T (p.Gln2931Leu)
n.8862A>T
c.*4474A>T (n.*4474A>T)
c.8717A>T (p.Gln2906Leu)
c.8789A>T (p.Gln2930Leu)
c.8714A>T (p.Gln2905Leu)
c.8414A>T (p.Gln2805Leu)
c.5678A>T (p.Gln1893Leu)
c.4571A>T (p.Gln1524Leu)
c.8597A>T (p.Gln2866Leu)
c.4349A>T (p.Gln1450Leu)
c.7577A>T (p.Gln2526Leu)
8g.99819508G>ACA462339502VPS13Bc.8793G>A (p.Gln2931=)
n.8863G>A
c.*4475G>A (n.*4475G>A)
c.8718G>A (p.Gln2906=)
c.8790G>A (p.Gln2930=)
c.8715G>A (p.Gln2905=)
c.8415G>A (p.Gln2805=)
c.5679G>A (p.Gln1893=)
c.4572G>A (p.Gln1524=)
c.8598G>A (p.Gln2866=)
c.4350G>A (p.Gln1450=)
c.7578G>A (p.Gln2526=)
 ClinVar
8g.99819508G>CCA371776404VPS13Bc.8793G>C (p.Gln2931His)
n.8863G>C
c.*4475G>C (n.*4475G>C)
c.8718G>C (p.Gln2906His)
c.8790G>C (p.Gln2930His)
c.8715G>C (p.Gln2905His)
c.8415G>C (p.Gln2805His)
c.5679G>C (p.Gln1893His)
c.4572G>C (p.Gln1524His)
c.8598G>C (p.Gln2866His)
c.4350G>C (p.Gln1450His)
c.7578G>C (p.Gln2526His)
8g.99819508G>TCA371776405VPS13Bc.8793G>T (p.Gln2931His)
n.8863G>T
c.*4475G>T (n.*4475G>T)
c.8718G>T (p.Gln2906His)
c.8790G>T (p.Gln2930His)
c.8715G>T (p.Gln2905His)
c.8415G>T (p.Gln2805His)
c.5679G>T (p.Gln1893His)
c.4572G>T (p.Gln1524His)
c.8598G>T (p.Gln2866His)
c.4350G>T (p.Gln1450His)
c.7578G>T (p.Gln2526His)
 gnomAD v4
8g.99819509A>CCA371776408VPS13Bc.8794A>C (p.Ile2932Leu)
n.8864A>C
c.*4476A>C (n.*4476A>C)
c.8719A>C (p.Ile2907Leu)
c.8791A>C (p.Ile2931Leu)
c.8716A>C (p.Ile2906Leu)
c.8416A>C (p.Ile2806Leu)
c.5680A>C (p.Ile1894Leu)
c.4573A>C (p.Ile1525Leu)
c.8599A>C (p.Ile2867Leu)
c.4351A>C (p.Ile1451Leu)
c.7579A>C (p.Ile2527Leu)
 ClinVar gnomAD v4
8g.99819509A>GCA371776409VPS13Bc.8794A>G (p.Ile2932Val)
n.8864A>G
c.*4476A>G (n.*4476A>G)
c.8719A>G (p.Ile2907Val)
c.8791A>G (p.Ile2931Val)
c.8716A>G (p.Ile2906Val)
c.8416A>G (p.Ile2806Val)
c.5680A>G (p.Ile1894Val)
c.4573A>G (p.Ile1525Val)
c.8599A>G (p.Ile2867Val)
c.4351A>G (p.Ile1451Val)
c.7579A>G (p.Ile2527Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819509A>TCA371776411VPS13Bc.8794A>T (p.Ile2932Phe)
n.8864A>T
c.*4476A>T (n.*4476A>T)
c.8719A>T (p.Ile2907Phe)
c.8791A>T (p.Ile2931Phe)
c.8716A>T (p.Ile2906Phe)
c.8416A>T (p.Ile2806Phe)
c.5680A>T (p.Ile1894Phe)
c.4573A>T (p.Ile1525Phe)
c.8599A>T (p.Ile2867Phe)
c.4351A>T (p.Ile1451Phe)
c.7579A>T (p.Ile2527Phe)
8g.99819510T>ACA371776414VPS13Bc.8795T>A (p.Ile2932Asn)
n.8865T>A
c.*4477T>A (n.*4477T>A)
c.8720T>A (p.Ile2907Asn)
c.8792T>A (p.Ile2931Asn)
c.8717T>A (p.Ile2906Asn)
c.8417T>A (p.Ile2806Asn)
c.5681T>A (p.Ile1894Asn)
c.4574T>A (p.Ile1525Asn)
c.8600T>A (p.Ile2867Asn)
c.4352T>A (p.Ile1451Asn)
c.7580T>A (p.Ile2527Asn)
8g.99819510T>CCA371776415VPS13Bc.8795T>C (p.Ile2932Thr)
n.8865T>C
c.*4477T>C (n.*4477T>C)
c.8720T>C (p.Ile2907Thr)
c.8792T>C (p.Ile2931Thr)
c.8717T>C (p.Ile2906Thr)
c.8417T>C (p.Ile2806Thr)
c.5681T>C (p.Ile1894Thr)
c.4574T>C (p.Ile1525Thr)
c.8600T>C (p.Ile2867Thr)
c.4352T>C (p.Ile1451Thr)
c.7580T>C (p.Ile2527Thr)
8g.99819510T>GCA371776417VPS13Bc.8795T>G (p.Ile2932Ser)
n.8865T>G
c.*4477T>G (n.*4477T>G)
c.8720T>G (p.Ile2907Ser)
c.8792T>G (p.Ile2931Ser)
c.8717T>G (p.Ile2906Ser)
c.8417T>G (p.Ile2806Ser)
c.5681T>G (p.Ile1894Ser)
c.4574T>G (p.Ile1525Ser)
c.8600T>G (p.Ile2867Ser)
c.4352T>G (p.Ile1451Ser)
c.7580T>G (p.Ile2527Ser)
8g.99819511C>ACA462339503VPS13Bc.8796C>A (p.Ile2932=)
n.8866C>A
c.*4478C>A (n.*4478C>A)
c.8721C>A (p.Ile2907=)
c.8793C>A (p.Ile2931=)
c.8718C>A (p.Ile2906=)
c.8418C>A (p.Ile2806=)
c.5682C>A (p.Ile1894=)
c.4575C>A (p.Ile1525=)
c.8601C>A (p.Ile2867=)
c.4353C>A (p.Ile1451=)
c.7581C>A (p.Ile2527=)
 ClinVar
8g.99819511C>GCA371776420VPS13Bc.8796C>G (p.Ile2932Met)
n.8866C>G
c.*4478C>G (n.*4478C>G)
c.8721C>G (p.Ile2907Met)
c.8793C>G (p.Ile2931Met)
c.8718C>G (p.Ile2906Met)
c.8418C>G (p.Ile2806Met)
c.5682C>G (p.Ile1894Met)
c.4575C>G (p.Ile1525Met)
c.8601C>G (p.Ile2867Met)
c.4353C>G (p.Ile1451Met)
c.7581C>G (p.Ile2527Met)
8g.99819511C>TCA4824530VPS13Bc.8796C>T (p.Ile2932=)
n.8866C>T
c.*4478C>T (n.*4478C>T)
c.8721C>T (p.Ile2907=)
c.8793C>T (p.Ile2931=)
c.8718C>T (p.Ile2906=)
c.8418C>T (p.Ile2806=)
c.5682C>T (p.Ile1894=)
c.4575C>T (p.Ile1525=)
c.8601C>T (p.Ile2867=)
c.4353C>T (p.Ile1451=)
c.7581C>T (p.Ile2527=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819512C>ACA371776422VPS13Bc.8797C>A (p.Leu2933Ile)
n.8867C>A
c.*4479C>A (n.*4479C>A)
c.8722C>A (p.Leu2908Ile)
c.8794C>A (p.Leu2932Ile)
c.8719C>A (p.Leu2907Ile)
c.8419C>A (p.Leu2807Ile)
c.5683C>A (p.Leu1895Ile)
c.4576C>A (p.Leu1526Ile)
c.8602C>A (p.Leu2868Ile)
c.4354C>A (p.Leu1452Ile)
c.7582C>A (p.Leu2528Ile)
8g.99819512C>GCA371776424VPS13Bc.8797C>G (p.Leu2933Val)
n.8867C>G
c.*4479C>G (n.*4479C>G)
c.8722C>G (p.Leu2908Val)
c.8794C>G (p.Leu2932Val)
c.8719C>G (p.Leu2907Val)
c.8419C>G (p.Leu2807Val)
c.5683C>G (p.Leu1895Val)
c.4576C>G (p.Leu1526Val)
c.8602C>G (p.Leu2868Val)
c.4354C>G (p.Leu1452Val)
c.7582C>G (p.Leu2528Val)
8g.99819512C>TCA371776426VPS13Bc.8797C>T (p.Leu2933Phe)
n.8867C>T
c.*4479C>T (n.*4479C>T)
c.8722C>T (p.Leu2908Phe)
c.8794C>T (p.Leu2932Phe)
c.8719C>T (p.Leu2907Phe)
c.8419C>T (p.Leu2807Phe)
c.5683C>T (p.Leu1895Phe)
c.4576C>T (p.Leu1526Phe)
c.8602C>T (p.Leu2868Phe)
c.4354C>T (p.Leu1452Phe)
c.7582C>T (p.Leu2528Phe)
8g.99819513T>ACA371776429VPS13Bc.8798T>A (p.Leu2933His)
n.8868T>A
c.*4480T>A (n.*4480T>A)
c.8723T>A (p.Leu2908His)
c.8795T>A (p.Leu2932His)
c.8720T>A (p.Leu2907His)
c.8420T>A (p.Leu2807His)
c.5684T>A (p.Leu1895His)
c.4577T>A (p.Leu1526His)
c.8603T>A (p.Leu2868His)
c.4355T>A (p.Leu1452His)
c.7583T>A (p.Leu2528His)
8g.99819513T>CCA371776430VPS13Bc.8798T>C (p.Leu2933Pro)
n.8868T>C
c.*4480T>C (n.*4480T>C)
c.8723T>C (p.Leu2908Pro)
c.8795T>C (p.Leu2932Pro)
c.8720T>C (p.Leu2907Pro)
c.8420T>C (p.Leu2807Pro)
c.5684T>C (p.Leu1895Pro)
c.4577T>C (p.Leu1526Pro)
c.8603T>C (p.Leu2868Pro)
c.4355T>C (p.Leu1452Pro)
c.7583T>C (p.Leu2528Pro)
8g.99819513T>GCA371776432VPS13Bc.8798T>G (p.Leu2933Arg)
n.8868T>G
c.*4480T>G (n.*4480T>G)
c.8723T>G (p.Leu2908Arg)
c.8795T>G (p.Leu2932Arg)
c.8720T>G (p.Leu2907Arg)
c.8420T>G (p.Leu2807Arg)
c.5684T>G (p.Leu1895Arg)
c.4577T>G (p.Leu1526Arg)
c.8603T>G (p.Leu2868Arg)
c.4355T>G (p.Leu1452Arg)
c.7583T>G (p.Leu2528Arg)
8g.99819514T>ACA462339504VPS13Bc.8799T>A (p.Leu2933=)
n.8869T>A
c.*4481T>A (n.*4481T>A)
c.8724T>A (p.Leu2908=)
c.8796T>A (p.Leu2932=)
c.8721T>A (p.Leu2907=)
c.8421T>A (p.Leu2807=)
c.5685T>A (p.Leu1895=)
c.4578T>A (p.Leu1526=)
c.8604T>A (p.Leu2868=)
c.4356T>A (p.Leu1452=)
c.7584T>A (p.Leu2528=)
8g.99819514T>CCA462339505VPS13Bc.8799T>C (p.Leu2933=)
n.8869T>C
c.*4481T>C (n.*4481T>C)
c.8724T>C (p.Leu2908=)
c.8796T>C (p.Leu2932=)
c.8721T>C (p.Leu2907=)
c.8421T>C (p.Leu2807=)
c.5685T>C (p.Leu1895=)
c.4578T>C (p.Leu1526=)
c.8604T>C (p.Leu2868=)
c.4356T>C (p.Leu1452=)
c.7584T>C (p.Leu2528=)
8g.99819514T>GCA462339506VPS13Bc.8799T>G (p.Leu2933=)
n.8869T>G
c.*4481T>G (n.*4481T>G)
c.8724T>G (p.Leu2908=)
c.8796T>G (p.Leu2932=)
c.8721T>G (p.Leu2907=)
c.8421T>G (p.Leu2807=)
c.5685T>G (p.Leu1895=)
c.4578T>G (p.Leu1526=)
c.8604T>G (p.Leu2868=)
c.4356T>G (p.Leu1452=)
c.7584T>G (p.Leu2528=)

Number of alleles fetched