Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99769013_99776930del | CA1139660679 | VPS13B | c.7322+2043_7478del n.7392+2043_7548del c.*3004+2043_*3160del c.7247+2043_7403del n.377+2043_378-1752del c.7319+2043_7475del c.7244+2043_7400del c.6944+2043_7100del c.4208+2043_4364del c.3101+2043_3257del n.1830+5550_2065+1677del c.7127+2043_7283del c.2879+2043_3035del c.6107+2043_6263del | ClinVar |
8 | g.99776854G>A | CA371875698 | VPS13B | c.7402G>A (p.Asp2468Asn) n.7472G>A c.*3084G>A (n.*3084G>A) c.7327G>A (p.Asp2443Asn) n.378-1828G>A c.7399G>A (p.Asp2467Asn) c.7324G>A (p.Asp2442Asn) c.7024G>A (p.Asp2342Asn) c.4288G>A (p.Asp1430Asn) c.3181G>A (p.Asp1061Asn) n.1830+5624C>T c.7207G>A (p.Asp2403Asn) c.2959G>A (p.Asp987Asn) c.6187G>A (p.Asp2063Asn) | |
8 | g.99776854G>C | CA371875697 | VPS13B | c.7402G>C (p.Asp2468His) n.7472G>C c.*3084G>C (n.*3084G>C) c.7327G>C (p.Asp2443His) n.378-1828G>C c.7399G>C (p.Asp2467His) c.7324G>C (p.Asp2442His) c.7024G>C (p.Asp2342His) c.4288G>C (p.Asp1430His) c.3181G>C (p.Asp1061His) n.1830+5624C>G c.7207G>C (p.Asp2403His) c.2959G>C (p.Asp987His) c.6187G>C (p.Asp2063His) | |
8 | g.99776854G>T | CA371875696 | VPS13B | c.7402G>T (p.Asp2468Tyr) n.7472G>T c.*3084G>T (n.*3084G>T) c.7327G>T (p.Asp2443Tyr) n.378-1828G>T c.7399G>T (p.Asp2467Tyr) c.7324G>T (p.Asp2442Tyr) c.7024G>T (p.Asp2342Tyr) c.4288G>T (p.Asp1430Tyr) c.3181G>T (p.Asp1061Tyr) n.1830+5624C>A c.7207G>T (p.Asp2403Tyr) c.2959G>T (p.Asp987Tyr) c.6187G>T (p.Asp2063Tyr) | |
8 | g.99776855A>C | CA371875699 | VPS13B | c.7403A>C (p.Asp2468Ala) n.7473A>C c.*3085A>C (n.*3085A>C) c.7328A>C (p.Asp2443Ala) n.378-1827A>C c.7400A>C (p.Asp2467Ala) c.7325A>C (p.Asp2442Ala) c.7025A>C (p.Asp2342Ala) c.4289A>C (p.Asp1430Ala) c.3182A>C (p.Asp1061Ala) n.1830+5623T>G c.7208A>C (p.Asp2403Ala) c.2960A>C (p.Asp987Ala) c.6188A>C (p.Asp2063Ala) | gnomAD v4 |
8 | g.99776855A>G | CA371875700 | VPS13B | c.7403A>G (p.Asp2468Gly) n.7473A>G c.*3085A>G (n.*3085A>G) c.7328A>G (p.Asp2443Gly) n.378-1827A>G c.7400A>G (p.Asp2467Gly) c.7325A>G (p.Asp2442Gly) c.7025A>G (p.Asp2342Gly) c.4289A>G (p.Asp1430Gly) c.3182A>G (p.Asp1061Gly) n.1830+5623T>C c.7208A>G (p.Asp2403Gly) c.2960A>G (p.Asp987Gly) c.6188A>G (p.Asp2063Gly) | gnomAD v4 |
8 | g.99776855A>T | CA371875701 | VPS13B | c.7403A>T (p.Asp2468Val) n.7473A>T c.*3085A>T (n.*3085A>T) c.7328A>T (p.Asp2443Val) n.378-1827A>T c.7400A>T (p.Asp2467Val) c.7325A>T (p.Asp2442Val) c.7025A>T (p.Asp2342Val) c.4289A>T (p.Asp1430Val) c.3182A>T (p.Asp1061Val) n.1830+5623T>A c.7208A>T (p.Asp2403Val) c.2960A>T (p.Asp987Val) c.6188A>T (p.Asp2063Val) | |
8 | g.99776855_99776856insTTCTGGACAAGTTGGTGTGGAGCGAAATTT | CA2556541256 | VPS13B | c.7403_7404insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2468_Ser2469insSerGlyGlnValGlyValGluArgAsnPhe) n.7473_7474insTTCTGGACAAGTTGGTGTGGAGCGAAATTT c.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (n.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT) c.7328_7329insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2443_Ser2444insSerGlyGlnValGlyValGluArgAsnPhe) n.378-1827_378-1826insTTCTGGACAAGTTGGTGTGGAGCGAAATTT c.7400_7401insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2467_Ser2468insSerGlyGlnValGlyValGluArgAsnPhe) c.7325_7326insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2442_Ser2443insSerGlyGlnValGlyValGluArgAsnPhe) c.7025_7026insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2342_Ser2343insSerGlyGlnValGlyValGluArgAsnPhe) c.4289_4290insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1430_Ser1431insSerGlyGlnValGlyValGluArgAsnPhe) c.3182_3183insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1061_Ser1062insSerGlyGlnValGlyValGluArgAsnPhe) n.1830+5622_1830+5623insAAATTTCGCTCCACACCAACTTGTCCAGAA c.7208_7209insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2403_Ser2404insSerGlyGlnValGlyValGluArgAsnPhe) c.2960_2961insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp987_Ser988insSerGlyGlnValGlyValGluArgAsnPhe) c.6188_6189insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2063_Ser2064insSerGlyGlnValGlyValGluArgAsnPhe) | |
8 | g.99776856C>A | CA371875702 | VPS13B | c.7404C>A (p.Asp2468Glu) n.7474C>A c.*3086C>A (n.*3086C>A) c.7329C>A (p.Asp2443Glu) n.378-1826C>A c.7401C>A (p.Asp2467Glu) c.7326C>A (p.Asp2442Glu) c.7026C>A (p.Asp2342Glu) c.4290C>A (p.Asp1430Glu) c.3183C>A (p.Asp1061Glu) n.1830+5622G>T c.7209C>A (p.Asp2403Glu) c.2961C>A (p.Asp987Glu) c.6189C>A (p.Asp2063Glu) | |
8 | g.99776856C>G | CA371875703 | VPS13B | c.7404C>G (p.Asp2468Glu) n.7474C>G c.*3086C>G (n.*3086C>G) c.7329C>G (p.Asp2443Glu) n.378-1826C>G c.7401C>G (p.Asp2467Glu) c.7326C>G (p.Asp2442Glu) c.7026C>G (p.Asp2342Glu) c.4290C>G (p.Asp1430Glu) c.3183C>G (p.Asp1061Glu) n.1830+5622G>C c.7209C>G (p.Asp2403Glu) c.2961C>G (p.Asp987Glu) c.6189C>G (p.Asp2063Glu) | |
8 | g.99776856C>T | CA462449190 | VPS13B | c.7404C>T (p.Asp2468=) n.7474C>T c.*3086C>T (n.*3086C>T) c.7329C>T (p.Asp2443=) n.378-1826C>T c.7401C>T (p.Asp2467=) c.7326C>T (p.Asp2442=) c.7026C>T (p.Asp2342=) c.4290C>T (p.Asp1430=) c.3183C>T (p.Asp1061=) n.1830+5622G>A c.7209C>T (p.Asp2403=) c.2961C>T (p.Asp987=) c.6189C>T (p.Asp2063=) | ClinVar dbSNP |
8 | g.99776857T>A | CA371875704 | VPS13B | c.7405T>A (p.Ser2469Thr) n.7475T>A c.*3087T>A (n.*3087T>A) c.7330T>A (p.Ser2444Thr) n.378-1825T>A c.7402T>A (p.Ser2468Thr) c.7327T>A (p.Ser2443Thr) c.7027T>A (p.Ser2343Thr) c.4291T>A (p.Ser1431Thr) c.3184T>A (p.Ser1062Thr) n.1830+5621A>T c.7210T>A (p.Ser2404Thr) c.2962T>A (p.Ser988Thr) c.6190T>A (p.Ser2064Thr) | ClinVar dbSNP |
8 | g.99776857T>C | CA4824193 | VPS13B | c.7405T>C (p.Ser2469Pro) n.7475T>C c.*3087T>C (n.*3087T>C) c.7330T>C (p.Ser2444Pro) n.378-1825T>C c.7402T>C (p.Ser2468Pro) c.7327T>C (p.Ser2443Pro) c.7027T>C (p.Ser2343Pro) c.4291T>C (p.Ser1431Pro) c.3184T>C (p.Ser1062Pro) n.1830+5621A>G c.7210T>C (p.Ser2404Pro) c.2962T>C (p.Ser988Pro) c.6190T>C (p.Ser2064Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776857T>G | CA371875705 | VPS13B | c.7405T>G (p.Ser2469Ala) n.7475T>G c.*3087T>G (n.*3087T>G) c.7330T>G (p.Ser2444Ala) n.378-1825T>G c.7402T>G (p.Ser2468Ala) c.7327T>G (p.Ser2443Ala) c.7027T>G (p.Ser2343Ala) c.4291T>G (p.Ser1431Ala) c.3184T>G (p.Ser1062Ala) n.1830+5621A>C c.7210T>G (p.Ser2404Ala) c.2962T>G (p.Ser988Ala) c.6190T>G (p.Ser2064Ala) | |
8 | g.99776858C>A | CA371875706 | VPS13B | c.7406C>A (p.Ser2469Tyr) n.7476C>A c.*3088C>A (n.*3088C>A) c.7331C>A (p.Ser2444Tyr) n.378-1824C>A c.7403C>A (p.Ser2468Tyr) c.7328C>A (p.Ser2443Tyr) c.7028C>A (p.Ser2343Tyr) c.4292C>A (p.Ser1431Tyr) c.3185C>A (p.Ser1062Tyr) n.1830+5620G>T c.7211C>A (p.Ser2404Tyr) c.2963C>A (p.Ser988Tyr) c.6191C>A (p.Ser2064Tyr) | |
8 | g.99776858C>G | CA371875707 | VPS13B | c.7406C>G (p.Ser2469Cys) n.7476C>G c.*3088C>G (n.*3088C>G) c.7331C>G (p.Ser2444Cys) n.378-1824C>G c.7403C>G (p.Ser2468Cys) c.7328C>G (p.Ser2443Cys) c.7028C>G (p.Ser2343Cys) c.4292C>G (p.Ser1431Cys) c.3185C>G (p.Ser1062Cys) n.1830+5620G>C c.7211C>G (p.Ser2404Cys) c.2963C>G (p.Ser988Cys) c.6191C>G (p.Ser2064Cys) | |
8 | g.99776858C>T | CA371875708 | VPS13B | c.7406C>T (p.Ser2469Phe) n.7476C>T c.*3088C>T (n.*3088C>T) c.7331C>T (p.Ser2444Phe) n.378-1824C>T c.7403C>T (p.Ser2468Phe) c.7328C>T (p.Ser2443Phe) c.7028C>T (p.Ser2343Phe) c.4292C>T (p.Ser1431Phe) c.3185C>T (p.Ser1062Phe) n.1830+5620G>A c.7211C>T (p.Ser2404Phe) c.2963C>T (p.Ser988Phe) c.6191C>T (p.Ser2064Phe) | |
8 | g.99776859C>A | CA462449193 | VPS13B | c.7407C>A (p.Ser2469=) n.7477C>A c.*3089C>A (n.*3089C>A) c.7332C>A (p.Ser2444=) n.378-1823C>A c.7404C>A (p.Ser2468=) c.7329C>A (p.Ser2443=) c.7029C>A (p.Ser2343=) c.4293C>A (p.Ser1431=) c.3186C>A (p.Ser1062=) n.1830+5619G>T c.7212C>A (p.Ser2404=) c.2964C>A (p.Ser988=) c.6192C>A (p.Ser2064=) | |
8 | g.99776859C>G | CA462449192 | VPS13B | c.7407C>G (p.Ser2469=) n.7477C>G c.*3089C>G (n.*3089C>G) c.7332C>G (p.Ser2444=) n.378-1823C>G c.7404C>G (p.Ser2468=) c.7329C>G (p.Ser2443=) c.7029C>G (p.Ser2343=) c.4293C>G (p.Ser1431=) c.3186C>G (p.Ser1062=) n.1830+5619G>C c.7212C>G (p.Ser2404=) c.2964C>G (p.Ser988=) c.6192C>G (p.Ser2064=) | |
8 | g.99776859C>T | CA462449191 | VPS13B | c.7407C>T (p.Ser2469=) n.7477C>T c.*3089C>T (n.*3089C>T) c.7332C>T (p.Ser2444=) n.378-1823C>T c.7404C>T (p.Ser2468=) c.7329C>T (p.Ser2443=) c.7029C>T (p.Ser2343=) c.4293C>T (p.Ser1431=) c.3186C>T (p.Ser1062=) n.1830+5619G>A c.7212C>T (p.Ser2404=) c.2964C>T (p.Ser988=) c.6192C>T (p.Ser2064=) | |
8 | g.99776859_99776860insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC | CA2550671528 | VPS13B | c.7407_7408insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2470GlyfsTer59) n.7477_7478insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC c.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (n.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC) c.7332_7333insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2445GlyfsTer59) n.378-1823_378-1822insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC c.7404_7405insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2469GlyfsTer59) c.7329_7330insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2444GlyfsTer59) c.7029_7030insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2344GlyfsTer59) c.4293_4294insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1432GlyfsTer59) c.3186_3187insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1063GlyfsTer59) n.1830+5619_1830+5620insTTTGACCGGAATTTCACGCACTGAGAATGCGTAAATTGTAGAGGTAAACGAGCTATGCCAACCGACATTCAGTGGTTCTTTTTGAAACTCACCG c.7212_7213insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2405GlyfsTer59) c.2964_2965insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys989GlyfsTer59) c.6192_6193insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2065GlyfsTer59) | |
8 | g.99776860T>A | CA371875709 | VPS13B | c.7408T>A (p.Cys2470Ser) n.7478T>A c.*3090T>A (n.*3090T>A) c.7333T>A (p.Cys2445Ser) n.378-1822T>A c.7405T>A (p.Cys2469Ser) c.7330T>A (p.Cys2444Ser) c.7030T>A (p.Cys2344Ser) c.4294T>A (p.Cys1432Ser) c.3187T>A (p.Cys1063Ser) n.1830+5618A>T c.7213T>A (p.Cys2405Ser) c.2965T>A (p.Cys989Ser) c.6193T>A (p.Cys2065Ser) | |
8 | g.99776860T>C | CA371875710 | VPS13B | c.7408T>C (p.Cys2470Arg) n.7478T>C c.*3090T>C (n.*3090T>C) c.7333T>C (p.Cys2445Arg) n.378-1822T>C c.7405T>C (p.Cys2469Arg) c.7330T>C (p.Cys2444Arg) c.7030T>C (p.Cys2344Arg) c.4294T>C (p.Cys1432Arg) c.3187T>C (p.Cys1063Arg) n.1830+5618A>G c.7213T>C (p.Cys2405Arg) c.2965T>C (p.Cys989Arg) c.6193T>C (p.Cys2065Arg) | |
8 | g.99776860T>G | CA371875711 | VPS13B | c.7408T>G (p.Cys2470Gly) n.7478T>G c.*3090T>G (n.*3090T>G) c.7333T>G (p.Cys2445Gly) n.378-1822T>G c.7405T>G (p.Cys2469Gly) c.7330T>G (p.Cys2444Gly) c.7030T>G (p.Cys2344Gly) c.4294T>G (p.Cys1432Gly) c.3187T>G (p.Cys1063Gly) n.1830+5618A>C c.7213T>G (p.Cys2405Gly) c.2965T>G (p.Cys989Gly) c.6193T>G (p.Cys2065Gly) | |
8 | g.99776861G>A | CA371875713 | VPS13B | c.7409G>A (p.Cys2470Tyr) n.7479G>A c.*3091G>A (n.*3091G>A) c.7334G>A (p.Cys2445Tyr) n.378-1821G>A c.7406G>A (p.Cys2469Tyr) c.7331G>A (p.Cys2444Tyr) c.7031G>A (p.Cys2344Tyr) c.4295G>A (p.Cys1432Tyr) c.3188G>A (p.Cys1063Tyr) n.1830+5617C>T c.7214G>A (p.Cys2405Tyr) c.2966G>A (p.Cys989Tyr) c.6194G>A (p.Cys2065Tyr) | |
8 | g.99776861G>C | CA183041725 | VPS13B | c.7409G>C (p.Cys2470Ser) n.7479G>C c.*3091G>C (n.*3091G>C) c.7334G>C (p.Cys2445Ser) n.378-1821G>C c.7406G>C (p.Cys2469Ser) c.7331G>C (p.Cys2444Ser) c.7031G>C (p.Cys2344Ser) c.4295G>C (p.Cys1432Ser) c.3188G>C (p.Cys1063Ser) n.1830+5617C>G c.7214G>C (p.Cys2405Ser) c.2966G>C (p.Cys989Ser) c.6194G>C (p.Cys2065Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.99776861G>T | CA371875712 | VPS13B | c.7409G>T (p.Cys2470Phe) n.7479G>T c.*3091G>T (n.*3091G>T) c.7334G>T (p.Cys2445Phe) n.378-1821G>T c.7406G>T (p.Cys2469Phe) c.7331G>T (p.Cys2444Phe) c.7031G>T (p.Cys2344Phe) c.4295G>T (p.Cys1432Phe) c.3188G>T (p.Cys1063Phe) n.1830+5617C>A c.7214G>T (p.Cys2405Phe) c.2966G>T (p.Cys989Phe) c.6194G>T (p.Cys2065Phe) | |
8 | g.99776862C>A | CA371875714 | VPS13B | c.7410C>A (p.Cys2470Ter) n.7480C>A c.*3092C>A (n.*3092C>A) c.7335C>A (p.Cys2445Ter) n.378-1820C>A c.7407C>A (p.Cys2469Ter) c.7332C>A (p.Cys2444Ter) c.7032C>A (p.Cys2344Ter) c.4296C>A (p.Cys1432Ter) c.3189C>A (p.Cys1063Ter) n.1830+5616G>T c.7215C>A (p.Cys2405Ter) c.2967C>A (p.Cys989Ter) c.6195C>A (p.Cys2065Ter) | |
8 | g.99776862C>G | CA371875715 | VPS13B | c.7410C>G (p.Cys2470Trp) n.7480C>G c.*3092C>G (n.*3092C>G) c.7335C>G (p.Cys2445Trp) n.378-1820C>G c.7407C>G (p.Cys2469Trp) c.7332C>G (p.Cys2444Trp) c.7032C>G (p.Cys2344Trp) c.4296C>G (p.Cys1432Trp) c.3189C>G (p.Cys1063Trp) n.1830+5616G>C c.7215C>G (p.Cys2405Trp) c.2967C>G (p.Cys989Trp) c.6195C>G (p.Cys2065Trp) | |
8 | g.99776862C>T | CA462449194 | VPS13B | c.7410C>T (p.Cys2470=) n.7480C>T c.*3092C>T (n.*3092C>T) c.7335C>T (p.Cys2445=) n.378-1820C>T c.7407C>T (p.Cys2469=) c.7332C>T (p.Cys2444=) c.7032C>T (p.Cys2344=) c.4296C>T (p.Cys1432=) c.3189C>T (p.Cys1063=) n.1830+5616G>A c.7215C>T (p.Cys2405=) c.2967C>T (p.Cys989=) c.6195C>T (p.Cys2065=) | |
8 | g.99776863T>A | CA371875716 | VPS13B | c.7411T>A (p.Phe2471Ile) n.7481T>A c.*3093T>A (n.*3093T>A) c.7336T>A (p.Phe2446Ile) n.378-1819T>A c.7408T>A (p.Phe2470Ile) c.7333T>A (p.Phe2445Ile) c.7033T>A (p.Phe2345Ile) c.4297T>A (p.Phe1433Ile) c.3190T>A (p.Phe1064Ile) n.1830+5615A>T c.7216T>A (p.Phe2406Ile) c.2968T>A (p.Phe990Ile) c.6196T>A (p.Phe2066Ile) | |
8 | g.99776863T>C | CA371875717 | VPS13B | c.7411T>C (p.Phe2471Leu) n.7481T>C c.*3093T>C (n.*3093T>C) c.7336T>C (p.Phe2446Leu) n.378-1819T>C c.7408T>C (p.Phe2470Leu) c.7333T>C (p.Phe2445Leu) c.7033T>C (p.Phe2345Leu) c.4297T>C (p.Phe1433Leu) c.3190T>C (p.Phe1064Leu) n.1830+5615A>G c.7216T>C (p.Phe2406Leu) c.2968T>C (p.Phe990Leu) c.6196T>C (p.Phe2066Leu) | |
8 | g.99776863T>G | CA371875718 | VPS13B | c.7411T>G (p.Phe2471Val) n.7481T>G c.*3093T>G (n.*3093T>G) c.7336T>G (p.Phe2446Val) n.378-1819T>G c.7408T>G (p.Phe2470Val) c.7333T>G (p.Phe2445Val) c.7033T>G (p.Phe2345Val) c.4297T>G (p.Phe1433Val) c.3190T>G (p.Phe1064Val) n.1830+5615A>C c.7216T>G (p.Phe2406Val) c.2968T>G (p.Phe990Val) c.6196T>G (p.Phe2066Val) | |
8 | g.99776864T>A | CA371875721 | VPS13B | c.7412T>A (p.Phe2471Tyr) n.7482T>A c.*3094T>A (n.*3094T>A) c.7337T>A (p.Phe2446Tyr) n.378-1818T>A c.7409T>A (p.Phe2470Tyr) c.7334T>A (p.Phe2445Tyr) c.7034T>A (p.Phe2345Tyr) c.4298T>A (p.Phe1433Tyr) c.3191T>A (p.Phe1064Tyr) n.1830+5614A>T c.7217T>A (p.Phe2406Tyr) c.2969T>A (p.Phe990Tyr) c.6197T>A (p.Phe2066Tyr) | |
8 | g.99776864T>C | CA371875720 | VPS13B | c.7412T>C (p.Phe2471Ser) n.7482T>C c.*3094T>C (n.*3094T>C) c.7337T>C (p.Phe2446Ser) n.378-1818T>C c.7409T>C (p.Phe2470Ser) c.7334T>C (p.Phe2445Ser) c.7034T>C (p.Phe2345Ser) c.4298T>C (p.Phe1433Ser) c.3191T>C (p.Phe1064Ser) n.1830+5614A>G c.7217T>C (p.Phe2406Ser) c.2969T>C (p.Phe990Ser) c.6197T>C (p.Phe2066Ser) | |
8 | g.99776864T>G | CA371875719 | VPS13B | c.7412T>G (p.Phe2471Cys) n.7482T>G c.*3094T>G (n.*3094T>G) c.7337T>G (p.Phe2446Cys) n.378-1818T>G c.7409T>G (p.Phe2470Cys) c.7334T>G (p.Phe2445Cys) c.7034T>G (p.Phe2345Cys) c.4298T>G (p.Phe1433Cys) c.3191T>G (p.Phe1064Cys) n.1830+5614A>C c.7217T>G (p.Phe2406Cys) c.2969T>G (p.Phe990Cys) c.6197T>G (p.Phe2066Cys) | |
8 | g.99776865T>A | CA371875722 | VPS13B | c.7413T>A (p.Phe2471Leu) n.7483T>A c.*3095T>A (n.*3095T>A) c.7338T>A (p.Phe2446Leu) n.378-1817T>A c.7410T>A (p.Phe2470Leu) c.7335T>A (p.Phe2445Leu) c.7035T>A (p.Phe2345Leu) c.4299T>A (p.Phe1433Leu) c.3192T>A (p.Phe1064Leu) n.1830+5613A>T c.7218T>A (p.Phe2406Leu) c.2970T>A (p.Phe990Leu) c.6198T>A (p.Phe2066Leu) | |
8 | g.99776865T>C | CA202890 | VPS13B | c.7413T>C (p.Phe2471=) n.7483T>C c.*3095T>C (n.*3095T>C) c.7338T>C (p.Phe2446=) n.378-1817T>C c.7410T>C (p.Phe2470=) c.7335T>C (p.Phe2445=) c.7035T>C (p.Phe2345=) c.4299T>C (p.Phe1433=) c.3192T>C (p.Phe1064=) n.1830+5613A>G c.7218T>C (p.Phe2406=) c.2970T>C (p.Phe990=) c.6198T>C (p.Phe2066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776865T>G | CA371875723 | VPS13B | c.7413T>G (p.Phe2471Leu) n.7483T>G c.*3095T>G (n.*3095T>G) c.7338T>G (p.Phe2446Leu) n.378-1817T>G c.7410T>G (p.Phe2470Leu) c.7335T>G (p.Phe2445Leu) c.7035T>G (p.Phe2345Leu) c.4299T>G (p.Phe1433Leu) c.3192T>G (p.Phe1064Leu) n.1830+5613A>C c.7218T>G (p.Phe2406Leu) c.2970T>G (p.Phe990Leu) c.6198T>G (p.Phe2066Leu) | |
8 | g.99776866A>C | CA371875724 | VPS13B | c.7414A>C (p.Thr2472Pro) n.7484A>C c.*3096A>C (n.*3096A>C) c.7339A>C (p.Thr2447Pro) n.378-1816A>C c.7411A>C (p.Thr2471Pro) c.7336A>C (p.Thr2446Pro) c.7036A>C (p.Thr2346Pro) c.4300A>C (p.Thr1434Pro) c.3193A>C (p.Thr1065Pro) n.1830+5612T>G c.7219A>C (p.Thr2407Pro) c.2971A>C (p.Thr991Pro) c.6199A>C (p.Thr2067Pro) | |
8 | g.99776866A>G | CA371875725 | VPS13B | c.7414A>G (p.Thr2472Ala) n.7484A>G c.*3096A>G (n.*3096A>G) c.7339A>G (p.Thr2447Ala) n.378-1816A>G c.7411A>G (p.Thr2471Ala) c.7336A>G (p.Thr2446Ala) c.7036A>G (p.Thr2346Ala) c.4300A>G (p.Thr1434Ala) c.3193A>G (p.Thr1065Ala) n.1830+5612T>C c.7219A>G (p.Thr2407Ala) c.2971A>G (p.Thr991Ala) c.6199A>G (p.Thr2067Ala) | |
8 | g.99776866A>T | CA371875726 | VPS13B | c.7414A>T (p.Thr2472Ser) n.7484A>T c.*3096A>T (n.*3096A>T) c.7339A>T (p.Thr2447Ser) n.378-1816A>T c.7411A>T (p.Thr2471Ser) c.7336A>T (p.Thr2446Ser) c.7036A>T (p.Thr2346Ser) c.4300A>T (p.Thr1434Ser) c.3193A>T (p.Thr1065Ser) n.1830+5612T>A c.7219A>T (p.Thr2407Ser) c.2971A>T (p.Thr991Ser) c.6199A>T (p.Thr2067Ser) | |
8 | g.99776867C>A | CA4824194 | VPS13B | c.7415C>A (p.Thr2472Asn) n.7485C>A c.*3097C>A (n.*3097C>A) c.7340C>A (p.Thr2447Asn) n.378-1815C>A c.7412C>A (p.Thr2471Asn) c.7337C>A (p.Thr2446Asn) c.7037C>A (p.Thr2346Asn) c.4301C>A (p.Thr1434Asn) c.3194C>A (p.Thr1065Asn) n.1830+5611G>T c.7220C>A (p.Thr2407Asn) c.2972C>A (p.Thr991Asn) c.6200C>A (p.Thr2067Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776867C>G | CA371875728 | VPS13B | c.7415C>G (p.Thr2472Ser) n.7485C>G c.*3097C>G (n.*3097C>G) c.7340C>G (p.Thr2447Ser) n.378-1815C>G c.7412C>G (p.Thr2471Ser) c.7337C>G (p.Thr2446Ser) c.7037C>G (p.Thr2346Ser) c.4301C>G (p.Thr1434Ser) c.3194C>G (p.Thr1065Ser) n.1830+5611G>C c.7220C>G (p.Thr2407Ser) c.2972C>G (p.Thr991Ser) c.6200C>G (p.Thr2067Ser) | |
8 | g.99776867C>T | CA371875727 | VPS13B | c.7415C>T (p.Thr2472Ile) n.7485C>T c.*3097C>T (n.*3097C>T) c.7340C>T (p.Thr2447Ile) n.378-1815C>T c.7412C>T (p.Thr2471Ile) c.7337C>T (p.Thr2446Ile) c.7037C>T (p.Thr2346Ile) c.4301C>T (p.Thr1434Ile) c.3194C>T (p.Thr1065Ile) n.1830+5611G>A c.7220C>T (p.Thr2407Ile) c.2972C>T (p.Thr991Ile) c.6200C>T (p.Thr2067Ile) | |
8 | g.99776868C>A | CA462449195 | VPS13B | c.7416C>A (p.Thr2472=) n.7486C>A c.*3098C>A (n.*3098C>A) c.7341C>A (p.Thr2447=) n.378-1814C>A c.7413C>A (p.Thr2471=) c.7338C>A (p.Thr2446=) c.7038C>A (p.Thr2346=) c.4302C>A (p.Thr1434=) c.3195C>A (p.Thr1065=) n.1830+5610G>T c.7221C>A (p.Thr2407=) c.2973C>A (p.Thr991=) c.6201C>A (p.Thr2067=) | |
8 | g.99776868C>G | CA462449196 | VPS13B | c.7416C>G (p.Thr2472=) n.7486C>G c.*3098C>G (n.*3098C>G) c.7341C>G (p.Thr2447=) n.378-1814C>G c.7413C>G (p.Thr2471=) c.7338C>G (p.Thr2446=) c.7038C>G (p.Thr2346=) c.4302C>G (p.Thr1434=) c.3195C>G (p.Thr1065=) n.1830+5610G>C c.7221C>G (p.Thr2407=) c.2973C>G (p.Thr991=) c.6201C>G (p.Thr2067=) | |
8 | g.99776868C>T | CA462449197 | VPS13B | c.7416C>T (p.Thr2472=) n.7486C>T c.*3098C>T (n.*3098C>T) c.7341C>T (p.Thr2447=) n.378-1814C>T c.7413C>T (p.Thr2471=) c.7338C>T (p.Thr2446=) c.7038C>T (p.Thr2346=) c.4302C>T (p.Thr1434=) c.3195C>T (p.Thr1065=) n.1830+5610G>A c.7221C>T (p.Thr2407=) c.2973C>T (p.Thr991=) c.6201C>T (p.Thr2067=) | gnomAD v4 COSMIC COSMIC |
8 | g.99776869C>A | CA371875729 | VPS13B | c.7417C>A (p.Pro2473Thr) n.7487C>A c.*3099C>A (n.*3099C>A) c.7342C>A (p.Pro2448Thr) n.378-1813C>A c.7414C>A (p.Pro2472Thr) c.7339C>A (p.Pro2447Thr) c.7039C>A (p.Pro2347Thr) c.4303C>A (p.Pro1435Thr) c.3196C>A (p.Pro1066Thr) n.1830+5609G>T c.7222C>A (p.Pro2408Thr) c.2974C>A (p.Pro992Thr) c.6202C>A (p.Pro2068Thr) | |
8 | g.99776869C>G | CA371875730 | VPS13B | c.7417C>G (p.Pro2473Ala) n.7487C>G c.*3099C>G (n.*3099C>G) c.7342C>G (p.Pro2448Ala) n.378-1813C>G c.7414C>G (p.Pro2472Ala) c.7339C>G (p.Pro2447Ala) c.7039C>G (p.Pro2347Ala) c.4303C>G (p.Pro1435Ala) c.3196C>G (p.Pro1066Ala) n.1830+5609G>C c.7222C>G (p.Pro2408Ala) c.2974C>G (p.Pro992Ala) c.6202C>G (p.Pro2068Ala) | |
8 | g.99776869C>T | CA371875731 | VPS13B | c.7417C>T (p.Pro2473Ser) n.7487C>T c.*3099C>T (n.*3099C>T) c.7342C>T (p.Pro2448Ser) n.378-1813C>T c.7414C>T (p.Pro2472Ser) c.7339C>T (p.Pro2447Ser) c.7039C>T (p.Pro2347Ser) c.4303C>T (p.Pro1435Ser) c.3196C>T (p.Pro1066Ser) n.1830+5609G>A c.7222C>T (p.Pro2408Ser) c.2974C>T (p.Pro992Ser) c.6202C>T (p.Pro2068Ser) | dbSNP COSMIC COSMIC |
8 | g.99776870C>A | CA371875732 | VPS13B | c.7418C>A (p.Pro2473Gln) n.7488C>A c.*3100C>A (n.*3100C>A) c.7343C>A (p.Pro2448Gln) n.378-1812C>A c.7415C>A (p.Pro2472Gln) c.7340C>A (p.Pro2447Gln) c.7040C>A (p.Pro2347Gln) c.4304C>A (p.Pro1435Gln) c.3197C>A (p.Pro1066Gln) n.1830+5608G>T c.7223C>A (p.Pro2408Gln) c.2975C>A (p.Pro992Gln) c.6203C>A (p.Pro2068Gln) | |
8 | g.99776870C>G | CA371875733 | VPS13B | c.7418C>G (p.Pro2473Arg) n.7488C>G c.*3100C>G (n.*3100C>G) c.7343C>G (p.Pro2448Arg) n.378-1812C>G c.7415C>G (p.Pro2472Arg) c.7340C>G (p.Pro2447Arg) c.7040C>G (p.Pro2347Arg) c.4304C>G (p.Pro1435Arg) c.3197C>G (p.Pro1066Arg) n.1830+5608G>C c.7223C>G (p.Pro2408Arg) c.2975C>G (p.Pro992Arg) c.6203C>G (p.Pro2068Arg) | |
8 | g.99776870C>T | CA371875734 | VPS13B | c.7418C>T (p.Pro2473Leu) n.7488C>T c.*3100C>T (n.*3100C>T) c.7343C>T (p.Pro2448Leu) n.378-1812C>T c.7415C>T (p.Pro2472Leu) c.7340C>T (p.Pro2447Leu) c.7040C>T (p.Pro2347Leu) c.4304C>T (p.Pro1435Leu) c.3197C>T (p.Pro1066Leu) n.1830+5608G>A c.7223C>T (p.Pro2408Leu) c.2975C>T (p.Pro992Leu) c.6203C>T (p.Pro2068Leu) | dbSNP COSMIC COSMIC |
8 | g.99776871A>C | CA462449198 | VPS13B | c.7419A>C (p.Pro2473=) n.7489A>C c.*3101A>C (n.*3101A>C) c.7344A>C (p.Pro2448=) n.378-1811A>C c.7416A>C (p.Pro2472=) c.7341A>C (p.Pro2447=) c.7041A>C (p.Pro2347=) c.4305A>C (p.Pro1435=) c.3198A>C (p.Pro1066=) n.1830+5607T>G c.7224A>C (p.Pro2408=) c.2976A>C (p.Pro992=) c.6204A>C (p.Pro2068=) | |
8 | g.99776871A>G | CA4824195 | VPS13B | c.7419A>G (p.Pro2473=) n.7489A>G c.*3101A>G (n.*3101A>G) c.7344A>G (p.Pro2448=) n.378-1811A>G c.7416A>G (p.Pro2472=) c.7341A>G (p.Pro2447=) c.7041A>G (p.Pro2347=) c.4305A>G (p.Pro1435=) c.3198A>G (p.Pro1066=) n.1830+5607T>C c.7224A>G (p.Pro2408=) c.2976A>G (p.Pro992=) c.6204A>G (p.Pro2068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776871A>T | CA462449199 | VPS13B | c.7419A>T (p.Pro2473=) n.7489A>T c.*3101A>T (n.*3101A>T) c.7344A>T (p.Pro2448=) n.378-1811A>T c.7416A>T (p.Pro2472=) c.7341A>T (p.Pro2447=) c.7041A>T (p.Pro2347=) c.4305A>T (p.Pro1435=) c.3198A>T (p.Pro1066=) n.1830+5607T>A c.7224A>T (p.Pro2408=) c.2976A>T (p.Pro992=) c.6204A>T (p.Pro2068=) | ClinVar |
8 | g.99776872T>A | CA371875735 | VPS13B | c.7420T>A (p.Trp2474Arg) n.7490T>A c.*3102T>A (n.*3102T>A) c.7345T>A (p.Trp2449Arg) n.378-1810T>A c.7417T>A (p.Trp2473Arg) c.7342T>A (p.Trp2448Arg) c.7042T>A (p.Trp2348Arg) c.4306T>A (p.Trp1436Arg) c.3199T>A (p.Trp1067Arg) n.1830+5606A>T c.7225T>A (p.Trp2409Arg) c.2977T>A (p.Trp993Arg) c.6205T>A (p.Trp2069Arg) | |
8 | g.99776872T>C | CA183041732 | VPS13B | c.7420T>C (p.Trp2474Arg) n.7490T>C c.*3102T>C (n.*3102T>C) c.7345T>C (p.Trp2449Arg) n.378-1810T>C c.7417T>C (p.Trp2473Arg) c.7342T>C (p.Trp2448Arg) c.7042T>C (p.Trp2348Arg) c.4306T>C (p.Trp1436Arg) c.3199T>C (p.Trp1067Arg) n.1830+5606A>G c.7225T>C (p.Trp2409Arg) c.2977T>C (p.Trp993Arg) c.6205T>C (p.Trp2069Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776872T>G | CA371875736 | VPS13B | c.7420T>G (p.Trp2474Gly) n.7490T>G c.*3102T>G (n.*3102T>G) c.7345T>G (p.Trp2449Gly) n.378-1810T>G c.7417T>G (p.Trp2473Gly) c.7342T>G (p.Trp2448Gly) c.7042T>G (p.Trp2348Gly) c.4306T>G (p.Trp1436Gly) c.3199T>G (p.Trp1067Gly) n.1830+5606A>C c.7225T>G (p.Trp2409Gly) c.2977T>G (p.Trp993Gly) c.6205T>G (p.Trp2069Gly) | |
8 | g.99776873G>A | CA371875739 | VPS13B | c.7421G>A (p.Trp2474Ter) n.7491G>A c.*3103G>A (n.*3103G>A) c.7346G>A (p.Trp2449Ter) n.378-1809G>A c.7418G>A (p.Trp2473Ter) c.7343G>A (p.Trp2448Ter) c.7043G>A (p.Trp2348Ter) c.4307G>A (p.Trp1436Ter) c.3200G>A (p.Trp1067Ter) n.1830+5605C>T c.7226G>A (p.Trp2409Ter) c.2978G>A (p.Trp993Ter) c.6206G>A (p.Trp2069Ter) | |
8 | g.99776873G>C | CA371875738 | VPS13B | c.7421G>C (p.Trp2474Ser) n.7491G>C c.*3103G>C (n.*3103G>C) c.7346G>C (p.Trp2449Ser) n.378-1809G>C c.7418G>C (p.Trp2473Ser) c.7343G>C (p.Trp2448Ser) c.7043G>C (p.Trp2348Ser) c.4307G>C (p.Trp1436Ser) c.3200G>C (p.Trp1067Ser) n.1830+5605C>G c.7226G>C (p.Trp2409Ser) c.2978G>C (p.Trp993Ser) c.6206G>C (p.Trp2069Ser) | |
8 | g.99776873G>T | CA371875737 | VPS13B | c.7421G>T (p.Trp2474Leu) n.7491G>T c.*3103G>T (n.*3103G>T) c.7346G>T (p.Trp2449Leu) n.378-1809G>T c.7418G>T (p.Trp2473Leu) c.7343G>T (p.Trp2448Leu) c.7043G>T (p.Trp2348Leu) c.4307G>T (p.Trp1436Leu) c.3200G>T (p.Trp1067Leu) n.1830+5605C>A c.7226G>T (p.Trp2409Leu) c.2978G>T (p.Trp993Leu) c.6206G>T (p.Trp2069Leu) | COSMIC COSMIC |
8 | g.99776874G>A | CA371875740 | VPS13B | c.7422G>A (p.Trp2474Ter) n.7492G>A c.*3104G>A (n.*3104G>A) c.7347G>A (p.Trp2449Ter) n.378-1808G>A c.7419G>A (p.Trp2473Ter) c.7344G>A (p.Trp2448Ter) c.7044G>A (p.Trp2348Ter) c.4308G>A (p.Trp1436Ter) c.3201G>A (p.Trp1067Ter) n.1830+5604C>T c.7227G>A (p.Trp2409Ter) c.2979G>A (p.Trp993Ter) c.6207G>A (p.Trp2069Ter) | |
8 | g.99776874G>C | CA371875742 | VPS13B | c.7422G>C (p.Trp2474Cys) n.7492G>C c.*3104G>C (n.*3104G>C) c.7347G>C (p.Trp2449Cys) n.378-1808G>C c.7419G>C (p.Trp2473Cys) c.7344G>C (p.Trp2448Cys) c.7044G>C (p.Trp2348Cys) c.4308G>C (p.Trp1436Cys) c.3201G>C (p.Trp1067Cys) n.1830+5604C>G c.7227G>C (p.Trp2409Cys) c.2979G>C (p.Trp993Cys) c.6207G>C (p.Trp2069Cys) | |
8 | g.99776874G>T | CA371875741 | VPS13B | c.7422G>T (p.Trp2474Cys) n.7492G>T c.*3104G>T (n.*3104G>T) c.7347G>T (p.Trp2449Cys) n.378-1808G>T c.7419G>T (p.Trp2473Cys) c.7344G>T (p.Trp2448Cys) c.7044G>T (p.Trp2348Cys) c.4308G>T (p.Trp1436Cys) c.3201G>T (p.Trp1067Cys) n.1830+5604C>A c.7227G>T (p.Trp2409Cys) c.2979G>T (p.Trp993Cys) c.6207G>T (p.Trp2069Cys) | ClinVar |
8 | g.99776875T>A | CA371875743 | VPS13B | c.7423T>A (p.Phe2475Ile) n.7493T>A c.*3105T>A (n.*3105T>A) c.7348T>A (p.Phe2450Ile) n.378-1807T>A c.7420T>A (p.Phe2474Ile) c.7345T>A (p.Phe2449Ile) c.7045T>A (p.Phe2349Ile) c.4309T>A (p.Phe1437Ile) c.3202T>A (p.Phe1068Ile) n.1830+5603A>T c.7228T>A (p.Phe2410Ile) c.2980T>A (p.Phe994Ile) c.6208T>A (p.Phe2070Ile) | |
8 | g.99776875T>C | CA371875745 | VPS13B | c.7423T>C (p.Phe2475Leu) n.7493T>C c.*3105T>C (n.*3105T>C) c.7348T>C (p.Phe2450Leu) n.378-1807T>C c.7420T>C (p.Phe2474Leu) c.7345T>C (p.Phe2449Leu) c.7045T>C (p.Phe2349Leu) c.4309T>C (p.Phe1437Leu) c.3202T>C (p.Phe1068Leu) n.1830+5603A>G c.7228T>C (p.Phe2410Leu) c.2980T>C (p.Phe994Leu) c.6208T>C (p.Phe2070Leu) | COSMIC COSMIC |
8 | g.99776875T>G | CA371875744 | VPS13B | c.7423T>G (p.Phe2475Val) n.7493T>G c.*3105T>G (n.*3105T>G) c.7348T>G (p.Phe2450Val) n.378-1807T>G c.7420T>G (p.Phe2474Val) c.7345T>G (p.Phe2449Val) c.7045T>G (p.Phe2349Val) c.4309T>G (p.Phe1437Val) c.3202T>G (p.Phe1068Val) n.1830+5603A>C c.7228T>G (p.Phe2410Val) c.2980T>G (p.Phe994Val) c.6208T>G (p.Phe2070Val) | |
8 | g.99776876T>A | CA371875746 | VPS13B | c.7424T>A (p.Phe2475Tyr) n.7494T>A c.*3106T>A (n.*3106T>A) c.7349T>A (p.Phe2450Tyr) n.378-1806T>A c.7421T>A (p.Phe2474Tyr) c.7346T>A (p.Phe2449Tyr) c.7046T>A (p.Phe2349Tyr) c.4310T>A (p.Phe1437Tyr) c.3203T>A (p.Phe1068Tyr) n.1830+5602A>T c.7229T>A (p.Phe2410Tyr) c.2981T>A (p.Phe994Tyr) c.6209T>A (p.Phe2070Tyr) | |
8 | g.99776876T>C | CA371875747 | VPS13B | c.7424T>C (p.Phe2475Ser) n.7494T>C c.*3106T>C (n.*3106T>C) c.7349T>C (p.Phe2450Ser) n.378-1806T>C c.7421T>C (p.Phe2474Ser) c.7346T>C (p.Phe2449Ser) c.7046T>C (p.Phe2349Ser) c.4310T>C (p.Phe1437Ser) c.3203T>C (p.Phe1068Ser) n.1830+5602A>G c.7229T>C (p.Phe2410Ser) c.2981T>C (p.Phe994Ser) c.6209T>C (p.Phe2070Ser) | |
8 | g.99776876T>G | CA371875748 | VPS13B | c.7424T>G (p.Phe2475Cys) n.7494T>G c.*3106T>G (n.*3106T>G) c.7349T>G (p.Phe2450Cys) n.378-1806T>G c.7421T>G (p.Phe2474Cys) c.7346T>G (p.Phe2449Cys) c.7046T>G (p.Phe2349Cys) c.4310T>G (p.Phe1437Cys) c.3203T>G (p.Phe1068Cys) n.1830+5602A>C c.7229T>G (p.Phe2410Cys) c.2981T>G (p.Phe994Cys) c.6209T>G (p.Phe2070Cys) | |
8 | g.99776877T>A | CA371875749 | VPS13B | c.7425T>A (p.Phe2475Leu) n.7495T>A c.*3107T>A (n.*3107T>A) c.7350T>A (p.Phe2450Leu) n.378-1805T>A c.7422T>A (p.Phe2474Leu) c.7347T>A (p.Phe2449Leu) c.7047T>A (p.Phe2349Leu) c.4311T>A (p.Phe1437Leu) c.3204T>A (p.Phe1068Leu) n.1830+5601A>T c.7230T>A (p.Phe2410Leu) c.2982T>A (p.Phe994Leu) c.6210T>A (p.Phe2070Leu) | |
8 | g.99776877T>C | CA462449200 | VPS13B | c.7425T>C (p.Phe2475=) n.7495T>C c.*3107T>C (n.*3107T>C) c.7350T>C (p.Phe2450=) n.378-1805T>C c.7422T>C (p.Phe2474=) c.7347T>C (p.Phe2449=) c.7047T>C (p.Phe2349=) c.4311T>C (p.Phe1437=) c.3204T>C (p.Phe1068=) n.1830+5601A>G c.7230T>C (p.Phe2410=) c.2982T>C (p.Phe994=) c.6210T>C (p.Phe2070=) | |
8 | g.99776877T>G | CA371875750 | VPS13B | c.7425T>G (p.Phe2475Leu) n.7495T>G c.*3107T>G (n.*3107T>G) c.7350T>G (p.Phe2450Leu) n.378-1805T>G c.7422T>G (p.Phe2474Leu) c.7347T>G (p.Phe2449Leu) c.7047T>G (p.Phe2349Leu) c.4311T>G (p.Phe1437Leu) c.3204T>G (p.Phe1068Leu) n.1830+5601A>C c.7230T>G (p.Phe2410Leu) c.2982T>G (p.Phe994Leu) c.6210T>G (p.Phe2070Leu) | gnomAD v4 |
8 | g.99776878G>A | CA4824196 | VPS13B | c.7426G>A (p.Val2476Ile) n.7496G>A c.*3108G>A (n.*3108G>A) c.7351G>A (p.Val2451Ile) n.378-1804G>A c.7423G>A (p.Val2475Ile) c.7348G>A (p.Val2450Ile) c.7048G>A (p.Val2350Ile) c.4312G>A (p.Val1438Ile) c.3205G>A (p.Val1069Ile) n.1830+5600C>T c.7231G>A (p.Val2411Ile) c.2983G>A (p.Val995Ile) c.6211G>A (p.Val2071Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776878G>C | CA371875751 | VPS13B | c.7426G>C (p.Val2476Leu) n.7496G>C c.*3108G>C (n.*3108G>C) c.7351G>C (p.Val2451Leu) n.378-1804G>C c.7423G>C (p.Val2475Leu) c.7348G>C (p.Val2450Leu) c.7048G>C (p.Val2350Leu) c.4312G>C (p.Val1438Leu) c.3205G>C (p.Val1069Leu) n.1830+5600C>G c.7231G>C (p.Val2411Leu) c.2983G>C (p.Val995Leu) c.6211G>C (p.Val2071Leu) | |
8 | g.99776878G>T | CA371875752 | VPS13B | c.7426G>T (p.Val2476Phe) n.7496G>T c.*3108G>T (n.*3108G>T) c.7351G>T (p.Val2451Phe) n.378-1804G>T c.7423G>T (p.Val2475Phe) c.7348G>T (p.Val2450Phe) c.7048G>T (p.Val2350Phe) c.4312G>T (p.Val1438Phe) c.3205G>T (p.Val1069Phe) n.1830+5600C>A c.7231G>T (p.Val2411Phe) c.2983G>T (p.Val995Phe) c.6211G>T (p.Val2071Phe) | |
8 | g.99776879T>A | CA371875753 | VPS13B | c.7427T>A (p.Val2476Asp) n.7497T>A c.*3109T>A (n.*3109T>A) c.7352T>A (p.Val2451Asp) n.378-1803T>A c.7424T>A (p.Val2475Asp) c.7349T>A (p.Val2450Asp) c.7049T>A (p.Val2350Asp) c.4313T>A (p.Val1438Asp) c.3206T>A (p.Val1069Asp) n.1830+5599A>T c.7232T>A (p.Val2411Asp) c.2984T>A (p.Val995Asp) c.6212T>A (p.Val2071Asp) | |
8 | g.99776879T>C | CA371875754 | VPS13B | c.7427T>C (p.Val2476Ala) n.7497T>C c.*3109T>C (n.*3109T>C) c.7352T>C (p.Val2451Ala) n.378-1803T>C c.7424T>C (p.Val2475Ala) c.7349T>C (p.Val2450Ala) c.7049T>C (p.Val2350Ala) c.4313T>C (p.Val1438Ala) c.3206T>C (p.Val1069Ala) n.1830+5599A>G c.7232T>C (p.Val2411Ala) c.2984T>C (p.Val995Ala) c.6212T>C (p.Val2071Ala) | |
8 | g.99776879T>G | CA371875755 | VPS13B | c.7427T>G (p.Val2476Gly) n.7497T>G c.*3109T>G (n.*3109T>G) c.7352T>G (p.Val2451Gly) n.378-1803T>G c.7424T>G (p.Val2475Gly) c.7349T>G (p.Val2450Gly) c.7049T>G (p.Val2350Gly) c.4313T>G (p.Val1438Gly) c.3206T>G (p.Val1069Gly) n.1830+5599A>C c.7232T>G (p.Val2411Gly) c.2984T>G (p.Val995Gly) c.6212T>G (p.Val2071Gly) | |
8 | g.99776880C>A | CA462449201 | VPS13B | c.7428C>A (p.Val2476=) n.7498C>A c.*3110C>A (n.*3110C>A) c.7353C>A (p.Val2451=) n.378-1802C>A c.7425C>A (p.Val2475=) c.7350C>A (p.Val2450=) c.7050C>A (p.Val2350=) c.4314C>A (p.Val1438=) c.3207C>A (p.Val1069=) n.1830+5598G>T c.7233C>A (p.Val2411=) c.2985C>A (p.Val995=) c.6213C>A (p.Val2071=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776880C>G | CA462449202 | VPS13B | c.7428C>G (p.Val2476=) n.7498C>G c.*3110C>G (n.*3110C>G) c.7353C>G (p.Val2451=) n.378-1802C>G c.7425C>G (p.Val2475=) c.7350C>G (p.Val2450=) c.7050C>G (p.Val2350=) c.4314C>G (p.Val1438=) c.3207C>G (p.Val1069=) n.1830+5598G>C c.7233C>G (p.Val2411=) c.2985C>G (p.Val995=) c.6213C>G (p.Val2071=) | |
8 | g.99776880C>T | CA462449203 | VPS13B | c.7428C>T (p.Val2476=) n.7498C>T c.*3110C>T (n.*3110C>T) c.7353C>T (p.Val2451=) n.378-1802C>T c.7425C>T (p.Val2475=) c.7350C>T (p.Val2450=) c.7050C>T (p.Val2350=) c.4314C>T (p.Val1438=) c.3207C>T (p.Val1069=) n.1830+5598G>A c.7233C>T (p.Val2411=) c.2985C>T (p.Val995=) c.6213C>T (p.Val2071=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776881C>A | CA371875756 | VPS13B | c.7429C>A (p.Pro2477Thr) n.7499C>A c.*3111C>A (n.*3111C>A) c.7354C>A (p.Pro2452Thr) n.378-1801C>A c.7426C>A (p.Pro2476Thr) c.7351C>A (p.Pro2451Thr) c.7051C>A (p.Pro2351Thr) c.4315C>A (p.Pro1439Thr) c.3208C>A (p.Pro1070Thr) n.1830+5597G>T c.7234C>A (p.Pro2412Thr) c.2986C>A (p.Pro996Thr) c.6214C>A (p.Pro2072Thr) | |
8 | g.99776881C>G | CA371875758 | VPS13B | c.7429C>G (p.Pro2477Ala) n.7499C>G c.*3111C>G (n.*3111C>G) c.7354C>G (p.Pro2452Ala) n.378-1801C>G c.7426C>G (p.Pro2476Ala) c.7351C>G (p.Pro2451Ala) c.7051C>G (p.Pro2351Ala) c.4315C>G (p.Pro1439Ala) c.3208C>G (p.Pro1070Ala) n.1830+5597G>C c.7234C>G (p.Pro2412Ala) c.2986C>G (p.Pro996Ala) c.6214C>G (p.Pro2072Ala) | |
8 | g.99776881C>T | CA371875757 | VPS13B | c.7429C>T (p.Pro2477Ser) n.7499C>T c.*3111C>T (n.*3111C>T) c.7354C>T (p.Pro2452Ser) n.378-1801C>T c.7426C>T (p.Pro2476Ser) c.7351C>T (p.Pro2451Ser) c.7051C>T (p.Pro2351Ser) c.4315C>T (p.Pro1439Ser) c.3208C>T (p.Pro1070Ser) n.1830+5597G>A c.7234C>T (p.Pro2412Ser) c.2986C>T (p.Pro996Ser) c.6214C>T (p.Pro2072Ser) | |
8 | g.99776882C>A | CA371875759 | VPS13B | c.7430C>A (p.Pro2477Gln) n.7500C>A c.*3112C>A (n.*3112C>A) c.7355C>A (p.Pro2452Gln) n.378-1800C>A c.7427C>A (p.Pro2476Gln) c.7352C>A (p.Pro2451Gln) c.7052C>A (p.Pro2351Gln) c.4316C>A (p.Pro1439Gln) c.3209C>A (p.Pro1070Gln) n.1830+5596G>T c.7235C>A (p.Pro2412Gln) c.2987C>A (p.Pro996Gln) c.6215C>A (p.Pro2072Gln) | |
8 | g.99776882C>G | CA371875760 | VPS13B | c.7430C>G (p.Pro2477Arg) n.7500C>G c.*3112C>G (n.*3112C>G) c.7355C>G (p.Pro2452Arg) n.378-1800C>G c.7427C>G (p.Pro2476Arg) c.7352C>G (p.Pro2451Arg) c.7052C>G (p.Pro2351Arg) c.4316C>G (p.Pro1439Arg) c.3209C>G (p.Pro1070Arg) n.1830+5596G>C c.7235C>G (p.Pro2412Arg) c.2987C>G (p.Pro996Arg) c.6215C>G (p.Pro2072Arg) | |
8 | g.99776882C>T | CA371875761 | VPS13B | c.7430C>T (p.Pro2477Leu) n.7500C>T c.*3112C>T (n.*3112C>T) c.7355C>T (p.Pro2452Leu) n.378-1800C>T c.7427C>T (p.Pro2476Leu) c.7352C>T (p.Pro2451Leu) c.7052C>T (p.Pro2351Leu) c.4316C>T (p.Pro1439Leu) c.3209C>T (p.Pro1070Leu) n.1830+5596G>A c.7235C>T (p.Pro2412Leu) c.2987C>T (p.Pro996Leu) c.6215C>T (p.Pro2072Leu) | dbSNP gnomAD v4 |
8 | g.99776883A>C | CA462449206 | VPS13B | c.7431A>C (p.Pro2477=) n.7501A>C c.*3113A>C (n.*3113A>C) c.7356A>C (p.Pro2452=) n.378-1799A>C c.7428A>C (p.Pro2476=) c.7353A>C (p.Pro2451=) c.7053A>C (p.Pro2351=) c.4317A>C (p.Pro1439=) c.3210A>C (p.Pro1070=) n.1830+5595T>G c.7236A>C (p.Pro2412=) c.2988A>C (p.Pro996=) c.6216A>C (p.Pro2072=) | |
8 | g.99776883A>G | CA462449205 | VPS13B | c.7431A>G (p.Pro2477=) n.7501A>G c.*3113A>G (n.*3113A>G) c.7356A>G (p.Pro2452=) n.378-1799A>G c.7428A>G (p.Pro2476=) c.7353A>G (p.Pro2451=) c.7053A>G (p.Pro2351=) c.4317A>G (p.Pro1439=) c.3210A>G (p.Pro1070=) n.1830+5595T>C c.7236A>G (p.Pro2412=) c.2988A>G (p.Pro996=) c.6216A>G (p.Pro2072=) | |
8 | g.99776883A>T | CA462449204 | VPS13B | c.7431A>T (p.Pro2477=) n.7501A>T c.*3113A>T (n.*3113A>T) c.7356A>T (p.Pro2452=) n.378-1799A>T c.7428A>T (p.Pro2476=) c.7353A>T (p.Pro2451=) c.7053A>T (p.Pro2351=) c.4317A>T (p.Pro1439=) c.3210A>T (p.Pro1070=) n.1830+5595T>A c.7236A>T (p.Pro2412=) c.2988A>T (p.Pro996=) c.6216A>T (p.Pro2072=) | |
8 | g.99776884T>A | CA371875762 | VPS13B | c.7432T>A (p.Ser2478Thr) n.7502T>A c.*3114T>A (n.*3114T>A) c.7357T>A (p.Ser2453Thr) n.378-1798T>A c.7429T>A (p.Ser2477Thr) c.7354T>A (p.Ser2452Thr) c.7054T>A (p.Ser2352Thr) c.4318T>A (p.Ser1440Thr) c.3211T>A (p.Ser1071Thr) n.1830+5594A>T c.7237T>A (p.Ser2413Thr) c.2989T>A (p.Ser997Thr) c.6217T>A (p.Ser2073Thr) | |
8 | g.99776884T>C | CA371875763 | VPS13B | c.7432T>C (p.Ser2478Pro) n.7502T>C c.*3114T>C (n.*3114T>C) c.7357T>C (p.Ser2453Pro) n.378-1798T>C c.7429T>C (p.Ser2477Pro) c.7354T>C (p.Ser2452Pro) c.7054T>C (p.Ser2352Pro) c.4318T>C (p.Ser1440Pro) c.3211T>C (p.Ser1071Pro) n.1830+5594A>G c.7237T>C (p.Ser2413Pro) c.2989T>C (p.Ser997Pro) c.6217T>C (p.Ser2073Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776884T>G | CA371875764 | VPS13B | c.7432T>G (p.Ser2478Ala) n.7502T>G c.*3114T>G (n.*3114T>G) c.7357T>G (p.Ser2453Ala) n.378-1798T>G c.7429T>G (p.Ser2477Ala) c.7354T>G (p.Ser2452Ala) c.7054T>G (p.Ser2352Ala) c.4318T>G (p.Ser1440Ala) c.3211T>G (p.Ser1071Ala) n.1830+5594A>C c.7237T>G (p.Ser2413Ala) c.2989T>G (p.Ser997Ala) c.6217T>G (p.Ser2073Ala) | |
8 | g.99776885C>A | CA371875765 | VPS13B | c.7433C>A (p.Ser2478Tyr) n.7503C>A c.*3115C>A (n.*3115C>A) c.7358C>A (p.Ser2453Tyr) n.378-1797C>A c.7430C>A (p.Ser2477Tyr) c.7355C>A (p.Ser2452Tyr) c.7055C>A (p.Ser2352Tyr) c.4319C>A (p.Ser1440Tyr) c.3212C>A (p.Ser1071Tyr) n.1830+5593G>T c.7238C>A (p.Ser2413Tyr) c.2990C>A (p.Ser997Tyr) c.6218C>A (p.Ser2073Tyr) | gnomAD v4 |
8 | g.99776885C>G | CA371875766 | VPS13B | c.7433C>G (p.Ser2478Cys) n.7503C>G c.*3115C>G (n.*3115C>G) c.7358C>G (p.Ser2453Cys) n.378-1797C>G c.7430C>G (p.Ser2477Cys) c.7355C>G (p.Ser2452Cys) c.7055C>G (p.Ser2352Cys) c.4319C>G (p.Ser1440Cys) c.3212C>G (p.Ser1071Cys) n.1830+5593G>C c.7238C>G (p.Ser2413Cys) c.2990C>G (p.Ser997Cys) c.6218C>G (p.Ser2073Cys) | |
8 | g.99776885C>T | CA371875767 | VPS13B | c.7433C>T (p.Ser2478Phe) n.7503C>T c.*3115C>T (n.*3115C>T) c.7358C>T (p.Ser2453Phe) n.378-1797C>T c.7430C>T (p.Ser2477Phe) c.7355C>T (p.Ser2452Phe) c.7055C>T (p.Ser2352Phe) c.4319C>T (p.Ser1440Phe) c.3212C>T (p.Ser1071Phe) n.1830+5593G>A c.7238C>T (p.Ser2413Phe) c.2990C>T (p.Ser997Phe) c.6218C>T (p.Ser2073Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776886C>A | CA462449207 | VPS13B | c.7434C>A (p.Ser2478=) n.7504C>A c.*3116C>A (n.*3116C>A) c.7359C>A (p.Ser2453=) n.378-1796C>A c.7431C>A (p.Ser2477=) c.7356C>A (p.Ser2452=) c.7056C>A (p.Ser2352=) c.4320C>A (p.Ser1440=) c.3213C>A (p.Ser1071=) n.1830+5592G>T c.7239C>A (p.Ser2413=) c.2991C>A (p.Ser997=) c.6219C>A (p.Ser2073=) | |
8 | g.99776886C>G | CA462449208 | VPS13B | c.7434C>G (p.Ser2478=) n.7504C>G c.*3116C>G (n.*3116C>G) c.7359C>G (p.Ser2453=) n.378-1796C>G c.7431C>G (p.Ser2477=) c.7356C>G (p.Ser2452=) c.7056C>G (p.Ser2352=) c.4320C>G (p.Ser1440=) c.3213C>G (p.Ser1071=) n.1830+5592G>C c.7239C>G (p.Ser2413=) c.2991C>G (p.Ser997=) c.6219C>G (p.Ser2073=) | |
8 | g.99776886C>T | CA462449209 | VPS13B | c.7434C>T (p.Ser2478=) n.7504C>T c.*3116C>T (n.*3116C>T) c.7359C>T (p.Ser2453=) n.378-1796C>T c.7431C>T (p.Ser2477=) c.7356C>T (p.Ser2452=) c.7056C>T (p.Ser2352=) c.4320C>T (p.Ser1440=) c.3213C>T (p.Ser1071=) n.1830+5592G>A c.7239C>T (p.Ser2413=) c.2991C>T (p.Ser997=) c.6219C>T (p.Ser2073=) | |
8 | g.99776887C>A | CA371875769 | VPS13B | c.7435C>A (p.Leu2479Ile) n.7505C>A c.*3117C>A (n.*3117C>A) c.7360C>A (p.Leu2454Ile) n.378-1795C>A c.7432C>A (p.Leu2478Ile) c.7357C>A (p.Leu2453Ile) c.7057C>A (p.Leu2353Ile) c.4321C>A (p.Leu1441Ile) c.3214C>A (p.Leu1072Ile) n.1830+5591G>T c.7240C>A (p.Leu2414Ile) c.2992C>A (p.Leu998Ile) c.6220C>A (p.Leu2074Ile) | |
8 | g.99776887C>G | CA371875770 | VPS13B | c.7435C>G (p.Leu2479Val) n.7505C>G c.*3117C>G (n.*3117C>G) c.7360C>G (p.Leu2454Val) n.378-1795C>G c.7432C>G (p.Leu2478Val) c.7357C>G (p.Leu2453Val) c.7057C>G (p.Leu2353Val) c.4321C>G (p.Leu1441Val) c.3214C>G (p.Leu1072Val) n.1830+5591G>C c.7240C>G (p.Leu2414Val) c.2992C>G (p.Leu998Val) c.6220C>G (p.Leu2074Val) | |
8 | g.99776887C>T | CA371875768 | VPS13B | c.7435C>T (p.Leu2479Phe) n.7505C>T c.*3117C>T (n.*3117C>T) c.7360C>T (p.Leu2454Phe) n.378-1795C>T c.7432C>T (p.Leu2478Phe) c.7357C>T (p.Leu2453Phe) c.7057C>T (p.Leu2353Phe) c.4321C>T (p.Leu1441Phe) c.3214C>T (p.Leu1072Phe) n.1830+5591G>A c.7240C>T (p.Leu2414Phe) c.2992C>T (p.Leu998Phe) c.6220C>T (p.Leu2074Phe) | |
8 | g.99776888T>A | CA371875771 | VPS13B | c.7436T>A (p.Leu2479His) n.7506T>A c.*3118T>A (n.*3118T>A) c.7361T>A (p.Leu2454His) n.378-1794T>A c.7433T>A (p.Leu2478His) c.7358T>A (p.Leu2453His) c.7058T>A (p.Leu2353His) c.4322T>A (p.Leu1441His) c.3215T>A (p.Leu1072His) n.1830+5590A>T c.7241T>A (p.Leu2414His) c.2993T>A (p.Leu998His) c.6221T>A (p.Leu2074His) | |
8 | g.99776888T>C | CA371875772 | VPS13B | c.7436T>C (p.Leu2479Pro) n.7506T>C c.*3118T>C (n.*3118T>C) c.7361T>C (p.Leu2454Pro) n.378-1794T>C c.7433T>C (p.Leu2478Pro) c.7358T>C (p.Leu2453Pro) c.7058T>C (p.Leu2353Pro) c.4322T>C (p.Leu1441Pro) c.3215T>C (p.Leu1072Pro) n.1830+5590A>G c.7241T>C (p.Leu2414Pro) c.2993T>C (p.Leu998Pro) c.6221T>C (p.Leu2074Pro) | |
8 | g.99776888T>G | CA371875773 | VPS13B | c.7436T>G (p.Leu2479Arg) n.7506T>G c.*3118T>G (n.*3118T>G) c.7361T>G (p.Leu2454Arg) n.378-1794T>G c.7433T>G (p.Leu2478Arg) c.7358T>G (p.Leu2453Arg) c.7058T>G (p.Leu2353Arg) c.4322T>G (p.Leu1441Arg) c.3215T>G (p.Leu1072Arg) n.1830+5590A>C c.7241T>G (p.Leu2414Arg) c.2993T>G (p.Leu998Arg) c.6221T>G (p.Leu2074Arg) | |
8 | g.99776889T>A | CA462449210 | VPS13B | c.7437T>A (p.Leu2479=) n.7507T>A c.*3119T>A (n.*3119T>A) c.7362T>A (p.Leu2454=) n.378-1793T>A c.7434T>A (p.Leu2478=) c.7359T>A (p.Leu2453=) c.7059T>A (p.Leu2353=) c.4323T>A (p.Leu1441=) c.3216T>A (p.Leu1072=) n.1830+5589A>T c.7242T>A (p.Leu2414=) c.2994T>A (p.Leu998=) c.6222T>A (p.Leu2074=) | |
8 | g.99776889T>C | CA462449212 | VPS13B | c.7437T>C (p.Leu2479=) n.7507T>C c.*3119T>C (n.*3119T>C) c.7362T>C (p.Leu2454=) n.378-1793T>C c.7434T>C (p.Leu2478=) c.7359T>C (p.Leu2453=) c.7059T>C (p.Leu2353=) c.4323T>C (p.Leu1441=) c.3216T>C (p.Leu1072=) n.1830+5589A>G c.7242T>C (p.Leu2414=) c.2994T>C (p.Leu998=) c.6222T>C (p.Leu2074=) | ClinVar dbSNP |
8 | g.99776889T>G | CA462449211 | VPS13B | c.7437T>G (p.Leu2479=) n.7507T>G c.*3119T>G (n.*3119T>G) c.7362T>G (p.Leu2454=) n.378-1793T>G c.7434T>G (p.Leu2478=) c.7359T>G (p.Leu2453=) c.7059T>G (p.Leu2353=) c.4323T>G (p.Leu1441=) c.3216T>G (p.Leu1072=) n.1830+5589A>C c.7242T>G (p.Leu2414=) c.2994T>G (p.Leu998=) c.6222T>G (p.Leu2074=) | ClinVar |
8 | g.99776889_99776890insAG | CA2556541009 | VPS13B | c.7437_7438insAG (p.Cys2480SerfsTer21) n.7507_7508insAG c.*3119_*3120insAG (n.*3119_*3120insAG) c.7362_7363insAG (p.Cys2455SerfsTer21) n.378-1793_378-1792insAG c.7434_7435insAG (p.Cys2479SerfsTer21) c.7359_7360insAG (p.Cys2454SerfsTer21) c.7059_7060insAG (p.Cys2354SerfsTer21) c.4323_4324insAG (p.Cys1442SerfsTer21) c.3216_3217insAG (p.Cys1073SerfsTer21) n.1830+5588_1830+5589insCT c.7242_7243insAG (p.Cys2415SerfsTer21) c.2994_2995insAG (p.Cys999SerfsTer21) c.6222_6223insAG (p.Cys2075SerfsTer21) | |
8 | g.99776890T>A | CA371875774 | VPS13B | c.7438T>A (p.Cys2480Ser) n.7508T>A c.*3120T>A (n.*3120T>A) c.7363T>A (p.Cys2455Ser) n.378-1792T>A c.7435T>A (p.Cys2479Ser) c.7360T>A (p.Cys2454Ser) c.7060T>A (p.Cys2354Ser) c.4324T>A (p.Cys1442Ser) c.3217T>A (p.Cys1073Ser) n.1830+5588A>T c.7243T>A (p.Cys2415Ser) c.2995T>A (p.Cys999Ser) c.6223T>A (p.Cys2075Ser) | |
8 | g.99776890T>C | CA371875775 | VPS13B | c.7438T>C (p.Cys2480Arg) n.7508T>C c.*3120T>C (n.*3120T>C) c.7363T>C (p.Cys2455Arg) n.378-1792T>C c.7435T>C (p.Cys2479Arg) c.7360T>C (p.Cys2454Arg) c.7060T>C (p.Cys2354Arg) c.4324T>C (p.Cys1442Arg) c.3217T>C (p.Cys1073Arg) n.1830+5588A>G c.7243T>C (p.Cys2415Arg) c.2995T>C (p.Cys999Arg) c.6223T>C (p.Cys2075Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.99776890T>G | CA371875776 | VPS13B | c.7438T>G (p.Cys2480Gly) n.7508T>G c.*3120T>G (n.*3120T>G) c.7363T>G (p.Cys2455Gly) n.378-1792T>G c.7435T>G (p.Cys2479Gly) c.7360T>G (p.Cys2454Gly) c.7060T>G (p.Cys2354Gly) c.4324T>G (p.Cys1442Gly) c.3217T>G (p.Cys1073Gly) n.1830+5588A>C c.7243T>G (p.Cys2415Gly) c.2995T>G (p.Cys999Gly) c.6223T>G (p.Cys2075Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776891G>A | CA371875777 | VPS13B | c.7439G>A (p.Cys2480Tyr) n.7509G>A c.*3121G>A (n.*3121G>A) c.7364G>A (p.Cys2455Tyr) n.378-1791G>A c.7436G>A (p.Cys2479Tyr) c.7361G>A (p.Cys2454Tyr) c.7061G>A (p.Cys2354Tyr) c.4325G>A (p.Cys1442Tyr) c.3218G>A (p.Cys1073Tyr) n.1830+5587C>T c.7244G>A (p.Cys2415Tyr) c.2996G>A (p.Cys999Tyr) c.6224G>A (p.Cys2075Tyr) | |
8 | g.99776891G>C | CA4824197 | VPS13B | c.7439G>C (p.Cys2480Ser) n.7509G>C c.*3121G>C (n.*3121G>C) c.7364G>C (p.Cys2455Ser) n.378-1791G>C c.7436G>C (p.Cys2479Ser) c.7361G>C (p.Cys2454Ser) c.7061G>C (p.Cys2354Ser) c.4325G>C (p.Cys1442Ser) c.3218G>C (p.Cys1073Ser) n.1830+5587C>G c.7244G>C (p.Cys2415Ser) c.2996G>C (p.Cys999Ser) c.6224G>C (p.Cys2075Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776891G>T | CA371875778 | VPS13B | c.7439G>T (p.Cys2480Phe) n.7509G>T c.*3121G>T (n.*3121G>T) c.7364G>T (p.Cys2455Phe) n.378-1791G>T c.7436G>T (p.Cys2479Phe) c.7361G>T (p.Cys2454Phe) c.7061G>T (p.Cys2354Phe) c.4325G>T (p.Cys1442Phe) c.3218G>T (p.Cys1073Phe) n.1830+5587C>A c.7244G>T (p.Cys2415Phe) c.2996G>T (p.Cys999Phe) c.6224G>T (p.Cys2075Phe) | |
8 | g.99776892del | CA1139660680 | VPS13B | c.7440del (p.Cys2480TrpfsTer20) n.7510del c.*3122del (n.*3122del) c.7365del (p.Cys2455TrpfsTer20) n.378-1790del c.7437del (p.Cys2479TrpfsTer20) c.7362del (p.Cys2454TrpfsTer20) c.7062del (p.Cys2354TrpfsTer20) c.4326del (p.Cys1442TrpfsTer20) c.3219del (p.Cys1073TrpfsTer20) n.1830+5586del c.7245del (p.Cys2415TrpfsTer20) c.2997del (p.Cys999TrpfsTer20) c.6225del (p.Cys2075TrpfsTer20) | ClinVar dbSNP |
8 | g.99776892C>A | CA371875779 | VPS13B | c.7440C>A (p.Cys2480Ter) n.7510C>A c.*3122C>A (n.*3122C>A) c.7365C>A (p.Cys2455Ter) n.378-1790C>A c.7437C>A (p.Cys2479Ter) c.7362C>A (p.Cys2454Ter) c.7062C>A (p.Cys2354Ter) c.4326C>A (p.Cys1442Ter) c.3219C>A (p.Cys1073Ter) n.1830+5586G>T c.7245C>A (p.Cys2415Ter) c.2997C>A (p.Cys999Ter) c.6225C>A (p.Cys2075Ter) | |
8 | g.99776892C>G | CA371875780 | VPS13B | c.7440C>G (p.Cys2480Trp) n.7510C>G c.*3122C>G (n.*3122C>G) c.7365C>G (p.Cys2455Trp) n.378-1790C>G c.7437C>G (p.Cys2479Trp) c.7362C>G (p.Cys2454Trp) c.7062C>G (p.Cys2354Trp) c.4326C>G (p.Cys1442Trp) c.3219C>G (p.Cys1073Trp) n.1830+5586G>C c.7245C>G (p.Cys2415Trp) c.2997C>G (p.Cys999Trp) c.6225C>G (p.Cys2075Trp) | |
8 | g.99776892C>T | CA4824198 | VPS13B | c.7440C>T (p.Cys2480=) n.7510C>T c.*3122C>T (n.*3122C>T) c.7365C>T (p.Cys2455=) n.378-1790C>T c.7437C>T (p.Cys2479=) c.7362C>T (p.Cys2454=) c.7062C>T (p.Cys2354=) c.4326C>T (p.Cys1442=) c.3219C>T (p.Cys1073=) n.1830+5586G>A c.7245C>T (p.Cys2415=) c.2997C>T (p.Cys999=) c.6225C>T (p.Cys2075=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99776893G>A | CA223484 | VPS13B | c.7441G>A (p.Val2481Ile) n.7511G>A c.*3123G>A (n.*3123G>A) c.7366G>A (p.Val2456Ile) n.378-1789G>A c.7438G>A (p.Val2480Ile) c.7363G>A (p.Val2455Ile) c.7063G>A (p.Val2355Ile) c.4327G>A (p.Val1443Ile) c.3220G>A (p.Val1074Ile) n.1830+5585C>T c.7246G>A (p.Val2416Ile) c.2998G>A (p.Val1000Ile) c.6226G>A (p.Val2076Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776893G>C | CA371875781 | VPS13B | c.7441G>C (p.Val2481Leu) n.7511G>C c.*3123G>C (n.*3123G>C) c.7366G>C (p.Val2456Leu) n.378-1789G>C c.7438G>C (p.Val2480Leu) c.7363G>C (p.Val2455Leu) c.7063G>C (p.Val2355Leu) c.4327G>C (p.Val1443Leu) c.3220G>C (p.Val1074Leu) n.1830+5585C>G c.7246G>C (p.Val2416Leu) c.2998G>C (p.Val1000Leu) c.6226G>C (p.Val2076Leu) | |
8 | g.99776893G>T | CA371875782 | VPS13B | c.7441G>T (p.Val2481Phe) n.7511G>T c.*3123G>T (n.*3123G>T) c.7366G>T (p.Val2456Phe) n.378-1789G>T c.7438G>T (p.Val2480Phe) c.7363G>T (p.Val2455Phe) c.7063G>T (p.Val2355Phe) c.4327G>T (p.Val1443Phe) c.3220G>T (p.Val1074Phe) n.1830+5585C>A c.7246G>T (p.Val2416Phe) c.2998G>T (p.Val1000Phe) c.6226G>T (p.Val2076Phe) | |
8 | g.99776894T>A | CA371875783 | VPS13B | c.7442T>A (p.Val2481Asp) n.7512T>A c.*3124T>A (n.*3124T>A) c.7367T>A (p.Val2456Asp) n.378-1788T>A c.7439T>A (p.Val2480Asp) c.7364T>A (p.Val2455Asp) c.7064T>A (p.Val2355Asp) c.4328T>A (p.Val1443Asp) c.3221T>A (p.Val1074Asp) n.1830+5584A>T c.7247T>A (p.Val2416Asp) c.2999T>A (p.Val1000Asp) c.6227T>A (p.Val2076Asp) | |
8 | g.99776894T>C | CA371875784 | VPS13B | c.7442T>C (p.Val2481Ala) n.7512T>C c.*3124T>C (n.*3124T>C) c.7367T>C (p.Val2456Ala) n.378-1788T>C c.7439T>C (p.Val2480Ala) c.7364T>C (p.Val2455Ala) c.7064T>C (p.Val2355Ala) c.4328T>C (p.Val1443Ala) c.3221T>C (p.Val1074Ala) n.1830+5584A>G c.7247T>C (p.Val2416Ala) c.2999T>C (p.Val1000Ala) c.6227T>C (p.Val2076Ala) | ClinVar dbSNP |
8 | g.99776894T>G | CA371875785 | VPS13B | c.7442T>G (p.Val2481Gly) n.7512T>G c.*3124T>G (n.*3124T>G) c.7367T>G (p.Val2456Gly) n.378-1788T>G c.7439T>G (p.Val2480Gly) c.7364T>G (p.Val2455Gly) c.7064T>G (p.Val2355Gly) c.4328T>G (p.Val1443Gly) c.3221T>G (p.Val1074Gly) n.1830+5584A>C c.7247T>G (p.Val2416Gly) c.2999T>G (p.Val1000Gly) c.6227T>G (p.Val2076Gly) | |
8 | g.99776896del | CA2688068077 | VPS13B | c.7444del (p.Ser2482LeufsTer18) n.7514del c.*3126del (n.*3126del) c.7369del (p.Ser2457LeufsTer18) n.378-1786del c.7441del (p.Ser2481LeufsTer18) c.7366del (p.Ser2456LeufsTer18) c.7066del (p.Ser2356LeufsTer18) c.4330del (p.Ser1444LeufsTer18) c.3223del (p.Ser1075LeufsTer18) n.1830+5584del c.7249del (p.Ser2417LeufsTer18) c.3001del (p.Ser1001LeufsTer18) c.6229del (p.Ser2077LeufsTer18) | gnomAD v4 |
8 | g.99776898_99776901del | CA857581703 | VPS13B | c.7446_7449del (p.Phe2483SerfsTer16) n.7516_7519del c.*3128_*3131del (n.*3128_*3131del) c.7371_7374del (p.Phe2458SerfsTer16) n.378-1784_378-1781del c.7443_7446del (p.Phe2482SerfsTer16) c.7368_7371del (p.Phe2457SerfsTer16) c.7068_7071del (p.Phe2357SerfsTer16) c.4332_4335del (p.Phe1445SerfsTer16) c.3225_3228del (p.Phe1076SerfsTer16) n.1830+5581_1830+5584del c.7251_7254del (p.Phe2418SerfsTer16) c.3003_3006del (p.Phe1002SerfsTer16) c.6231_6234del (p.Phe2078SerfsTer16) | dbSNP |
8 | g.99776895T>A | CA462449213 | VPS13B | c.7443T>A (p.Val2481=) n.7513T>A c.*3125T>A (n.*3125T>A) c.7368T>A (p.Val2456=) n.378-1787T>A c.7440T>A (p.Val2480=) c.7365T>A (p.Val2455=) c.7065T>A (p.Val2355=) c.4329T>A (p.Val1443=) c.3222T>A (p.Val1074=) n.1830+5583A>T c.7248T>A (p.Val2416=) c.3000T>A (p.Val1000=) c.6228T>A (p.Val2076=) | |
8 | g.99776895T>C | CA462449215 | VPS13B | c.7443T>C (p.Val2481=) n.7513T>C c.*3125T>C (n.*3125T>C) c.7368T>C (p.Val2456=) n.378-1787T>C c.7440T>C (p.Val2480=) c.7365T>C (p.Val2455=) c.7065T>C (p.Val2355=) c.4329T>C (p.Val1443=) c.3222T>C (p.Val1074=) n.1830+5583A>G c.7248T>C (p.Val2416=) c.3000T>C (p.Val1000=) c.6228T>C (p.Val2076=) | |
8 | g.99776895T>G | CA462449214 | VPS13B | c.7443T>G (p.Val2481=) n.7513T>G c.*3125T>G (n.*3125T>G) c.7368T>G (p.Val2456=) n.378-1787T>G c.7440T>G (p.Val2480=) c.7365T>G (p.Val2455=) c.7065T>G (p.Val2355=) c.4329T>G (p.Val1443=) c.3222T>G (p.Val1074=) n.1830+5583A>C c.7248T>G (p.Val2416=) c.3000T>G (p.Val1000=) c.6228T>G (p.Val2076=) | |
8 | g.99776896T>A | CA371875786 | VPS13B | c.7444T>A (p.Ser2482Thr) n.7514T>A c.*3126T>A (n.*3126T>A) c.7369T>A (p.Ser2457Thr) n.378-1786T>A c.7441T>A (p.Ser2481Thr) c.7366T>A (p.Ser2456Thr) c.7066T>A (p.Ser2356Thr) c.4330T>A (p.Ser1444Thr) c.3223T>A (p.Ser1075Thr) n.1830+5582A>T c.7249T>A (p.Ser2417Thr) c.3001T>A (p.Ser1001Thr) c.6229T>A (p.Ser2077Thr) | |
8 | g.99776896T>C | CA371875787 | VPS13B | c.7444T>C (p.Ser2482Pro) n.7514T>C c.*3126T>C (n.*3126T>C) c.7369T>C (p.Ser2457Pro) n.378-1786T>C c.7441T>C (p.Ser2481Pro) c.7366T>C (p.Ser2456Pro) c.7066T>C (p.Ser2356Pro) c.4330T>C (p.Ser1444Pro) c.3223T>C (p.Ser1075Pro) n.1830+5582A>G c.7249T>C (p.Ser2417Pro) c.3001T>C (p.Ser1001Pro) c.6229T>C (p.Ser2077Pro) | |
8 | g.99776896T>G | CA371875788 | VPS13B | c.7444T>G (p.Ser2482Ala) n.7514T>G c.*3126T>G (n.*3126T>G) c.7369T>G (p.Ser2457Ala) n.378-1786T>G c.7441T>G (p.Ser2481Ala) c.7366T>G (p.Ser2456Ala) c.7066T>G (p.Ser2356Ala) c.4330T>G (p.Ser1444Ala) c.3223T>G (p.Ser1075Ala) n.1830+5582A>C c.7249T>G (p.Ser2417Ala) c.3001T>G (p.Ser1001Ala) c.6229T>G (p.Ser2077Ala) | |
8 | g.99776897C>A | CA371875789 | VPS13B | c.7445C>A (p.Ser2482Tyr) n.7515C>A c.*3127C>A (n.*3127C>A) c.7370C>A (p.Ser2457Tyr) n.378-1785C>A c.7442C>A (p.Ser2481Tyr) c.7367C>A (p.Ser2456Tyr) c.7067C>A (p.Ser2356Tyr) c.4331C>A (p.Ser1444Tyr) c.3224C>A (p.Ser1075Tyr) n.1830+5581G>T c.7250C>A (p.Ser2417Tyr) c.3002C>A (p.Ser1001Tyr) c.6230C>A (p.Ser2077Tyr) | |
8 | g.99776897C>G | CA4824199 | VPS13B | c.7445C>G (p.Ser2482Cys) n.7515C>G c.*3127C>G (n.*3127C>G) c.7370C>G (p.Ser2457Cys) n.378-1785C>G c.7442C>G (p.Ser2481Cys) c.7367C>G (p.Ser2456Cys) c.7067C>G (p.Ser2356Cys) c.4331C>G (p.Ser1444Cys) c.3224C>G (p.Ser1075Cys) n.1830+5581G>C c.7250C>G (p.Ser2417Cys) c.3002C>G (p.Ser1001Cys) c.6230C>G (p.Ser2077Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776897C>T | CA371875790 | VPS13B | c.7445C>T (p.Ser2482Phe) n.7515C>T c.*3127C>T (n.*3127C>T) c.7370C>T (p.Ser2457Phe) n.378-1785C>T c.7442C>T (p.Ser2481Phe) c.7367C>T (p.Ser2456Phe) c.7067C>T (p.Ser2356Phe) c.4331C>T (p.Ser1444Phe) c.3224C>T (p.Ser1075Phe) n.1830+5581G>A c.7250C>T (p.Ser2417Phe) c.3002C>T (p.Ser1001Phe) c.6230C>T (p.Ser2077Phe) | |
8 | g.99776898T>A | CA462449216 | VPS13B | c.7446T>A (p.Ser2482=) n.7516T>A c.*3128T>A (n.*3128T>A) c.7371T>A (p.Ser2457=) n.378-1784T>A c.7443T>A (p.Ser2481=) c.7368T>A (p.Ser2456=) c.7068T>A (p.Ser2356=) c.4332T>A (p.Ser1444=) c.3225T>A (p.Ser1075=) n.1830+5580A>T c.7251T>A (p.Ser2417=) c.3003T>A (p.Ser1001=) c.6231T>A (p.Ser2077=) | |
8 | g.99776898T>C | CA4824200 | VPS13B | c.7446T>C (p.Ser2482=) n.7516T>C c.*3128T>C (n.*3128T>C) c.7371T>C (p.Ser2457=) n.378-1784T>C c.7443T>C (p.Ser2481=) c.7368T>C (p.Ser2456=) c.7068T>C (p.Ser2356=) c.4332T>C (p.Ser1444=) c.3225T>C (p.Ser1075=) n.1830+5580A>G c.7251T>C (p.Ser2417=) c.3003T>C (p.Ser1001=) c.6231T>C (p.Ser2077=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776898T>G | CA462449217 | VPS13B | c.7446T>G (p.Ser2482=) n.7516T>G c.*3128T>G (n.*3128T>G) c.7371T>G (p.Ser2457=) n.378-1784T>G c.7443T>G (p.Ser2481=) c.7368T>G (p.Ser2456=) c.7068T>G (p.Ser2356=) c.4332T>G (p.Ser1444=) c.3225T>G (p.Ser1075=) n.1830+5580A>C c.7251T>G (p.Ser2417=) c.3003T>G (p.Ser1001=) c.6231T>G (p.Ser2077=) | |
8 | g.99776899T>A | CA371875791 | VPS13B | c.7447T>A (p.Phe2483Ile) n.7517T>A c.*3129T>A (n.*3129T>A) c.7372T>A (p.Phe2458Ile) n.378-1783T>A c.7444T>A (p.Phe2482Ile) c.7369T>A (p.Phe2457Ile) c.7069T>A (p.Phe2357Ile) c.4333T>A (p.Phe1445Ile) c.3226T>A (p.Phe1076Ile) n.1830+5579A>T c.7252T>A (p.Phe2418Ile) c.3004T>A (p.Phe1002Ile) c.6232T>A (p.Phe2078Ile) | |
8 | g.99776899T>C | CA371875792 | VPS13B | c.7447T>C (p.Phe2483Leu) n.7517T>C c.*3129T>C (n.*3129T>C) c.7372T>C (p.Phe2458Leu) n.378-1783T>C c.7444T>C (p.Phe2482Leu) c.7369T>C (p.Phe2457Leu) c.7069T>C (p.Phe2357Leu) c.4333T>C (p.Phe1445Leu) c.3226T>C (p.Phe1076Leu) n.1830+5579A>G c.7252T>C (p.Phe2418Leu) c.3004T>C (p.Phe1002Leu) c.6232T>C (p.Phe2078Leu) | |
8 | g.99776899T>G | CA371875793 | VPS13B | c.7447T>G (p.Phe2483Val) n.7517T>G c.*3129T>G (n.*3129T>G) c.7372T>G (p.Phe2458Val) n.378-1783T>G c.7444T>G (p.Phe2482Val) c.7369T>G (p.Phe2457Val) c.7069T>G (p.Phe2357Val) c.4333T>G (p.Phe1445Val) c.3226T>G (p.Phe1076Val) n.1830+5579A>C c.7252T>G (p.Phe2418Val) c.3004T>G (p.Phe1002Val) c.6232T>G (p.Phe2078Val) | |
8 | g.99776900T>A | CA371875795 | VPS13B | c.7448T>A (p.Phe2483Tyr) n.7518T>A c.*3130T>A (n.*3130T>A) c.7373T>A (p.Phe2458Tyr) n.378-1782T>A c.7445T>A (p.Phe2482Tyr) c.7370T>A (p.Phe2457Tyr) c.7070T>A (p.Phe2357Tyr) c.4334T>A (p.Phe1445Tyr) c.3227T>A (p.Phe1076Tyr) n.1830+5578A>T c.7253T>A (p.Phe2418Tyr) c.3005T>A (p.Phe1002Tyr) c.6233T>A (p.Phe2078Tyr) | |
8 | g.99776900T>C | CA371875796 | VPS13B | c.7448T>C (p.Phe2483Ser) n.7518T>C c.*3130T>C (n.*3130T>C) c.7373T>C (p.Phe2458Ser) n.378-1782T>C c.7445T>C (p.Phe2482Ser) c.7370T>C (p.Phe2457Ser) c.7070T>C (p.Phe2357Ser) c.4334T>C (p.Phe1445Ser) c.3227T>C (p.Phe1076Ser) n.1830+5578A>G c.7253T>C (p.Phe2418Ser) c.3005T>C (p.Phe1002Ser) c.6233T>C (p.Phe2078Ser) | gnomAD v4 |
8 | g.99776900T>G | CA371875794 | VPS13B | c.7448T>G (p.Phe2483Cys) n.7518T>G c.*3130T>G (n.*3130T>G) c.7373T>G (p.Phe2458Cys) n.378-1782T>G c.7445T>G (p.Phe2482Cys) c.7370T>G (p.Phe2457Cys) c.7070T>G (p.Phe2357Cys) c.4334T>G (p.Phe1445Cys) c.3227T>G (p.Phe1076Cys) n.1830+5578A>C c.7253T>G (p.Phe2418Cys) c.3005T>G (p.Phe1002Cys) c.6233T>G (p.Phe2078Cys) | |
8 | g.99776901C>A | CA371875798 | VPS13B | c.7449C>A (p.Phe2483Leu) n.7519C>A c.*3131C>A (n.*3131C>A) c.7374C>A (p.Phe2458Leu) n.378-1781C>A c.7446C>A (p.Phe2482Leu) c.7371C>A (p.Phe2457Leu) c.7071C>A (p.Phe2357Leu) c.4335C>A (p.Phe1445Leu) c.3228C>A (p.Phe1076Leu) n.1830+5577G>T c.7254C>A (p.Phe2418Leu) c.3006C>A (p.Phe1002Leu) c.6234C>A (p.Phe2078Leu) | |
8 | g.99776901C>G | CA371875797 | VPS13B | c.7449C>G (p.Phe2483Leu) n.7519C>G c.*3131C>G (n.*3131C>G) c.7374C>G (p.Phe2458Leu) n.378-1781C>G c.7446C>G (p.Phe2482Leu) c.7371C>G (p.Phe2457Leu) c.7071C>G (p.Phe2357Leu) c.4335C>G (p.Phe1445Leu) c.3228C>G (p.Phe1076Leu) n.1830+5577G>C c.7254C>G (p.Phe2418Leu) c.3006C>G (p.Phe1002Leu) c.6234C>G (p.Phe2078Leu) | |
8 | g.99776901C>T | CA462449218 | VPS13B | c.7449C>T (p.Phe2483=) n.7519C>T c.*3131C>T (n.*3131C>T) c.7374C>T (p.Phe2458=) n.378-1781C>T c.7446C>T (p.Phe2482=) c.7371C>T (p.Phe2457=) c.7071C>T (p.Phe2357=) c.4335C>T (p.Phe1445=) c.3228C>T (p.Phe1076=) n.1830+5577G>A c.7254C>T (p.Phe2418=) c.3006C>T (p.Phe1002=) c.6234C>T (p.Phe2078=) | ClinVar gnomAD v4 |
8 | g.99776902C>A | CA371875799 | VPS13B | c.7450C>A (p.Gln2484Lys) n.7520C>A c.*3132C>A (n.*3132C>A) c.7375C>A (p.Gln2459Lys) n.378-1780C>A c.7447C>A (p.Gln2483Lys) c.7372C>A (p.Gln2458Lys) c.7072C>A (p.Gln2358Lys) c.4336C>A (p.Gln1446Lys) c.3229C>A (p.Gln1077Lys) n.1830+5576G>T c.7255C>A (p.Gln2419Lys) c.3007C>A (p.Gln1003Lys) c.6235C>A (p.Gln2079Lys) | |
8 | g.99776902C>G | CA371875800 | VPS13B | c.7450C>G (p.Gln2484Glu) n.7520C>G c.*3132C>G (n.*3132C>G) c.7375C>G (p.Gln2459Glu) n.378-1780C>G c.7447C>G (p.Gln2483Glu) c.7372C>G (p.Gln2458Glu) c.7072C>G (p.Gln2358Glu) c.4336C>G (p.Gln1446Glu) c.3229C>G (p.Gln1077Glu) n.1830+5576G>C c.7255C>G (p.Gln2419Glu) c.3007C>G (p.Gln1003Glu) c.6235C>G (p.Gln2079Glu) | |
8 | g.99776902C>T | CA371875801 | VPS13B | c.7450C>T (p.Gln2484Ter) n.7520C>T c.*3132C>T (n.*3132C>T) c.7375C>T (p.Gln2459Ter) n.378-1780C>T c.7447C>T (p.Gln2483Ter) c.7372C>T (p.Gln2458Ter) c.7072C>T (p.Gln2358Ter) c.4336C>T (p.Gln1446Ter) c.3229C>T (p.Gln1077Ter) n.1830+5576G>A c.7255C>T (p.Gln2419Ter) c.3007C>T (p.Gln1003Ter) c.6235C>T (p.Gln2079Ter) | |
8 | g.99776903_99776909del | CA2497230830 | VPS13B | c.7451_7457del (p.Gln2484LeufsTer14) n.7521_7527del c.*3133_*3139del (n.*3133_*3139del) c.7376_7382del (p.Gln2459LeufsTer14) n.378-1779_378-1773del c.7448_7454del (p.Gln2483LeufsTer14) c.7373_7379del (p.Gln2458LeufsTer14) c.7073_7079del (p.Gln2358LeufsTer14) c.4337_4343del (p.Gln1446LeufsTer14) c.3230_3236del (p.Gln1077LeufsTer14) n.1830+5570_1830+5576del c.7256_7262del (p.Gln2419LeufsTer14) c.3008_3014del (p.Gln1003LeufsTer14) c.6236_6242del (p.Gln2079LeufsTer14) | dbSNP |
8 | g.99776903A>C | CA371875802 | VPS13B | c.7451A>C (p.Gln2484Pro) n.7521A>C c.*3133A>C (n.*3133A>C) c.7376A>C (p.Gln2459Pro) n.378-1779A>C c.7448A>C (p.Gln2483Pro) c.7373A>C (p.Gln2458Pro) c.7073A>C (p.Gln2358Pro) c.4337A>C (p.Gln1446Pro) c.3230A>C (p.Gln1077Pro) n.1830+5575T>G c.7256A>C (p.Gln2419Pro) c.3008A>C (p.Gln1003Pro) c.6236A>C (p.Gln2079Pro) | |
8 | g.99776903A>G | CA371875803 | VPS13B | c.7451A>G (p.Gln2484Arg) n.7521A>G c.*3133A>G (n.*3133A>G) c.7376A>G (p.Gln2459Arg) n.378-1779A>G c.7448A>G (p.Gln2483Arg) c.7373A>G (p.Gln2458Arg) c.7073A>G (p.Gln2358Arg) c.4337A>G (p.Gln1446Arg) c.3230A>G (p.Gln1077Arg) n.1830+5575T>C c.7256A>G (p.Gln2419Arg) c.3008A>G (p.Gln1003Arg) c.6236A>G (p.Gln2079Arg) | |
8 | g.99776903A>T | CA371875804 | VPS13B | c.7451A>T (p.Gln2484Leu) n.7521A>T c.*3133A>T (n.*3133A>T) c.7376A>T (p.Gln2459Leu) n.378-1779A>T c.7448A>T (p.Gln2483Leu) c.7373A>T (p.Gln2458Leu) c.7073A>T (p.Gln2358Leu) c.4337A>T (p.Gln1446Leu) c.3230A>T (p.Gln1077Leu) n.1830+5575T>A c.7256A>T (p.Gln2419Leu) c.3008A>T (p.Gln1003Leu) c.6236A>T (p.Gln2079Leu) | |
8 | g.99776904G>A | CA462449219 | VPS13B | c.7452G>A (p.Gln2484=) n.7522G>A c.*3134G>A (n.*3134G>A) c.7377G>A (p.Gln2459=) n.378-1778G>A c.7449G>A (p.Gln2483=) c.7374G>A (p.Gln2458=) c.7074G>A (p.Gln2358=) c.4338G>A (p.Gln1446=) c.3231G>A (p.Gln1077=) n.1830+5574C>T c.7257G>A (p.Gln2419=) c.3009G>A (p.Gln1003=) c.6237G>A (p.Gln2079=) | |
8 | g.99776904G>C | CA371875805 | VPS13B | c.7452G>C (p.Gln2484His) n.7522G>C c.*3134G>C (n.*3134G>C) c.7377G>C (p.Gln2459His) n.378-1778G>C c.7449G>C (p.Gln2483His) c.7374G>C (p.Gln2458His) c.7074G>C (p.Gln2358His) c.4338G>C (p.Gln1446His) c.3231G>C (p.Gln1077His) n.1830+5574C>G c.7257G>C (p.Gln2419His) c.3009G>C (p.Gln1003His) c.6237G>C (p.Gln2079His) | ClinVar gnomAD v4 |
8 | g.99776904G>T | CA371875806 | VPS13B | c.7452G>T (p.Gln2484His) n.7522G>T c.*3134G>T (n.*3134G>T) c.7377G>T (p.Gln2459His) n.378-1778G>T c.7449G>T (p.Gln2483His) c.7374G>T (p.Gln2458His) c.7074G>T (p.Gln2358His) c.4338G>T (p.Gln1446His) c.3231G>T (p.Gln1077His) n.1830+5574C>A c.7257G>T (p.Gln2419His) c.3009G>T (p.Gln1003His) c.6237G>T (p.Gln2079His) | |
8 | g.99776905T>A | CA371875807 | VPS13B | c.7453T>A (p.Phe2485Ile) n.7523T>A c.*3135T>A (n.*3135T>A) c.7378T>A (p.Phe2460Ile) n.378-1777T>A c.7450T>A (p.Phe2484Ile) c.7375T>A (p.Phe2459Ile) c.7075T>A (p.Phe2359Ile) c.4339T>A (p.Phe1447Ile) c.3232T>A (p.Phe1078Ile) n.1830+5573A>T c.7258T>A (p.Phe2420Ile) c.3010T>A (p.Phe1004Ile) c.6238T>A (p.Phe2080Ile) | |
8 | g.99776905T>C | CA371875808 | VPS13B | c.7453T>C (p.Phe2485Leu) n.7523T>C c.*3135T>C (n.*3135T>C) c.7378T>C (p.Phe2460Leu) n.378-1777T>C c.7450T>C (p.Phe2484Leu) c.7375T>C (p.Phe2459Leu) c.7075T>C (p.Phe2359Leu) c.4339T>C (p.Phe1447Leu) c.3232T>C (p.Phe1078Leu) n.1830+5573A>G c.7258T>C (p.Phe2420Leu) c.3010T>C (p.Phe1004Leu) c.6238T>C (p.Phe2080Leu) | dbSNP |
8 | g.99776905T>G | CA371875809 | VPS13B | c.7453T>G (p.Phe2485Val) n.7523T>G c.*3135T>G (n.*3135T>G) c.7378T>G (p.Phe2460Val) n.378-1777T>G c.7450T>G (p.Phe2484Val) c.7375T>G (p.Phe2459Val) c.7075T>G (p.Phe2359Val) c.4339T>G (p.Phe1447Val) c.3232T>G (p.Phe1078Val) n.1830+5573A>C c.7258T>G (p.Phe2420Val) c.3010T>G (p.Phe1004Val) c.6238T>G (p.Phe2080Val) | |
8 | g.99776906T>A | CA371875811 | VPS13B | c.7454T>A (p.Phe2485Tyr) n.7524T>A c.*3136T>A (n.*3136T>A) c.7379T>A (p.Phe2460Tyr) n.378-1776T>A c.7451T>A (p.Phe2484Tyr) c.7376T>A (p.Phe2459Tyr) c.7076T>A (p.Phe2359Tyr) c.4340T>A (p.Phe1447Tyr) c.3233T>A (p.Phe1078Tyr) n.1830+5572A>T c.7259T>A (p.Phe2420Tyr) c.3011T>A (p.Phe1004Tyr) c.6239T>A (p.Phe2080Tyr) | dbSNP |
8 | g.99776906T>C | CA371875812 | VPS13B | c.7454T>C (p.Phe2485Ser) n.7524T>C c.*3136T>C (n.*3136T>C) c.7379T>C (p.Phe2460Ser) n.378-1776T>C c.7451T>C (p.Phe2484Ser) c.7376T>C (p.Phe2459Ser) c.7076T>C (p.Phe2359Ser) c.4340T>C (p.Phe1447Ser) c.3233T>C (p.Phe1078Ser) n.1830+5572A>G c.7259T>C (p.Phe2420Ser) c.3011T>C (p.Phe1004Ser) c.6239T>C (p.Phe2080Ser) | |
8 | g.99776906T>G | CA371875810 | VPS13B | c.7454T>G (p.Phe2485Cys) n.7524T>G c.*3136T>G (n.*3136T>G) c.7379T>G (p.Phe2460Cys) n.378-1776T>G c.7451T>G (p.Phe2484Cys) c.7376T>G (p.Phe2459Cys) c.7076T>G (p.Phe2359Cys) c.4340T>G (p.Phe1447Cys) c.3233T>G (p.Phe1078Cys) n.1830+5572A>C c.7259T>G (p.Phe2420Cys) c.3011T>G (p.Phe1004Cys) c.6239T>G (p.Phe2080Cys) | |
8 | g.99776907T>A | CA371875813 | VPS13B | c.7455T>A (p.Phe2485Leu) n.7525T>A c.*3137T>A (n.*3137T>A) c.7380T>A (p.Phe2460Leu) n.378-1775T>A c.7452T>A (p.Phe2484Leu) c.7377T>A (p.Phe2459Leu) c.7077T>A (p.Phe2359Leu) c.4341T>A (p.Phe1447Leu) c.3234T>A (p.Phe1078Leu) n.1830+5571A>T c.7260T>A (p.Phe2420Leu) c.3012T>A (p.Phe1004Leu) c.6240T>A (p.Phe2080Leu) | |
8 | g.99776907T>C | CA462449220 | VPS13B | c.7455T>C (p.Phe2485=) n.7525T>C c.*3137T>C (n.*3137T>C) c.7380T>C (p.Phe2460=) n.378-1775T>C c.7452T>C (p.Phe2484=) c.7377T>C (p.Phe2459=) c.7077T>C (p.Phe2359=) c.4341T>C (p.Phe1447=) c.3234T>C (p.Phe1078=) n.1830+5571A>G c.7260T>C (p.Phe2420=) c.3012T>C (p.Phe1004=) c.6240T>C (p.Phe2080=) | |
8 | g.99776907T>G | CA4824201 | VPS13B | c.7455T>G (p.Phe2485Leu) n.7525T>G c.*3137T>G (n.*3137T>G) c.7380T>G (p.Phe2460Leu) n.378-1775T>G c.7452T>G (p.Phe2484Leu) c.7377T>G (p.Phe2459Leu) c.7077T>G (p.Phe2359Leu) c.4341T>G (p.Phe1447Leu) c.3234T>G (p.Phe1078Leu) n.1830+5571A>C c.7260T>G (p.Phe2420Leu) c.3012T>G (p.Phe1004Leu) c.6240T>G (p.Phe2080Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776908G>A | CA371875814 | VPS13B | c.7456G>A (p.Ala2486Thr) n.7526G>A c.*3138G>A (n.*3138G>A) c.7381G>A (p.Ala2461Thr) n.378-1774G>A c.7453G>A (p.Ala2485Thr) c.7378G>A (p.Ala2460Thr) c.7078G>A (p.Ala2360Thr) c.4342G>A (p.Ala1448Thr) c.3235G>A (p.Ala1079Thr) n.1830+5570C>T c.7261G>A (p.Ala2421Thr) c.3013G>A (p.Ala1005Thr) c.6241G>A (p.Ala2081Thr) | gnomAD v4 |
8 | g.99776908G>C | CA371875815 | VPS13B | c.7456G>C (p.Ala2486Pro) n.7526G>C c.*3138G>C (n.*3138G>C) c.7381G>C (p.Ala2461Pro) n.378-1774G>C c.7453G>C (p.Ala2485Pro) c.7378G>C (p.Ala2460Pro) c.7078G>C (p.Ala2360Pro) c.4342G>C (p.Ala1448Pro) c.3235G>C (p.Ala1079Pro) n.1830+5570C>G c.7261G>C (p.Ala2421Pro) c.3013G>C (p.Ala1005Pro) c.6241G>C (p.Ala2081Pro) | |
8 | g.99776908G>T | CA371875816 | VPS13B | c.7456G>T (p.Ala2486Ser) n.7526G>T c.*3138G>T (n.*3138G>T) c.7381G>T (p.Ala2461Ser) n.378-1774G>T c.7453G>T (p.Ala2485Ser) c.7378G>T (p.Ala2460Ser) c.7078G>T (p.Ala2360Ser) c.4342G>T (p.Ala1448Ser) c.3235G>T (p.Ala1079Ser) n.1830+5570C>A c.7261G>T (p.Ala2421Ser) c.3013G>T (p.Ala1005Ser) c.6241G>T (p.Ala2081Ser) | gnomAD v4 |
8 | g.99776909C>A | CA371875819 | VPS13B | c.7457C>A (p.Ala2486Asp) n.7527C>A c.*3139C>A (n.*3139C>A) c.7382C>A (p.Ala2461Asp) n.378-1773C>A c.7454C>A (p.Ala2485Asp) c.7379C>A (p.Ala2460Asp) c.7079C>A (p.Ala2360Asp) c.4343C>A (p.Ala1448Asp) c.3236C>A (p.Ala1079Asp) n.1830+5569G>T c.7262C>A (p.Ala2421Asp) c.3014C>A (p.Ala1005Asp) c.6242C>A (p.Ala2081Asp) | |
8 | g.99776909C>G | CA371875817 | VPS13B | c.7457C>G (p.Ala2486Gly) n.7527C>G c.*3139C>G (n.*3139C>G) c.7382C>G (p.Ala2461Gly) n.378-1773C>G c.7454C>G (p.Ala2485Gly) c.7379C>G (p.Ala2460Gly) c.7079C>G (p.Ala2360Gly) c.4343C>G (p.Ala1448Gly) c.3236C>G (p.Ala1079Gly) n.1830+5569G>C c.7262C>G (p.Ala2421Gly) c.3014C>G (p.Ala1005Gly) c.6242C>G (p.Ala2081Gly) | |
8 | g.99776909C>T | CA371875818 | VPS13B | c.7457C>T (p.Ala2486Val) n.7527C>T c.*3139C>T (n.*3139C>T) c.7382C>T (p.Ala2461Val) n.378-1773C>T c.7454C>T (p.Ala2485Val) c.7379C>T (p.Ala2460Val) c.7079C>T (p.Ala2360Val) c.4343C>T (p.Ala1448Val) c.3236C>T (p.Ala1079Val) n.1830+5569G>A c.7262C>T (p.Ala2421Val) c.3014C>T (p.Ala1005Val) c.6242C>T (p.Ala2081Val) | |
8 | g.99776910T>A | CA462449221 | VPS13B | c.7458T>A (p.Ala2486=) n.7528T>A c.*3140T>A (n.*3140T>A) c.7383T>A (p.Ala2461=) n.378-1772T>A c.7455T>A (p.Ala2485=) c.7380T>A (p.Ala2460=) c.7080T>A (p.Ala2360=) c.4344T>A (p.Ala1448=) c.3237T>A (p.Ala1079=) n.1830+5568A>T c.7263T>A (p.Ala2421=) c.3015T>A (p.Ala1005=) c.6243T>A (p.Ala2081=) | |
8 | g.99776910T>C | CA462449222 | VPS13B | c.7458T>C (p.Ala2486=) n.7528T>C c.*3140T>C (n.*3140T>C) c.7383T>C (p.Ala2461=) n.378-1772T>C c.7455T>C (p.Ala2485=) c.7380T>C (p.Ala2460=) c.7080T>C (p.Ala2360=) c.4344T>C (p.Ala1448=) c.3237T>C (p.Ala1079=) n.1830+5568A>G c.7263T>C (p.Ala2421=) c.3015T>C (p.Ala1005=) c.6243T>C (p.Ala2081=) | |
8 | g.99776910T>G | CA462449223 | VPS13B | c.7458T>G (p.Ala2486=) n.7528T>G c.*3140T>G (n.*3140T>G) c.7383T>G (p.Ala2461=) n.378-1772T>G c.7455T>G (p.Ala2485=) c.7380T>G (p.Ala2460=) c.7080T>G (p.Ala2360=) c.4344T>G (p.Ala1448=) c.3237T>G (p.Ala1079=) n.1830+5568A>C c.7263T>G (p.Ala2421=) c.3015T>G (p.Ala1005=) c.6243T>G (p.Ala2081=) | |
8 | g.99776911C>A | CA371875820 | VPS13B | c.7459C>A (p.His2487Asn) n.7529C>A c.*3141C>A (n.*3141C>A) c.7384C>A (p.His2462Asn) n.378-1771C>A c.7456C>A (p.His2486Asn) c.7381C>A (p.His2461Asn) c.7081C>A (p.His2361Asn) c.4345C>A (p.His1449Asn) c.3238C>A (p.His1080Asn) n.1830+5567G>T c.7264C>A (p.His2422Asn) c.3016C>A (p.His1006Asn) c.6244C>A (p.His2082Asn) | |
8 | g.99776911C>G | CA371875821 | VPS13B | c.7459C>G (p.His2487Asp) n.7529C>G c.*3141C>G (n.*3141C>G) c.7384C>G (p.His2462Asp) n.378-1771C>G c.7456C>G (p.His2486Asp) c.7381C>G (p.His2461Asp) c.7081C>G (p.His2361Asp) c.4345C>G (p.His1449Asp) c.3238C>G (p.His1080Asp) n.1830+5567G>C c.7264C>G (p.His2422Asp) c.3016C>G (p.His1006Asp) c.6244C>G (p.His2082Asp) | |
8 | g.99776911C>T | CA371875822 | VPS13B | c.7459C>T (p.His2487Tyr) n.7529C>T c.*3141C>T (n.*3141C>T) c.7384C>T (p.His2462Tyr) n.378-1771C>T c.7456C>T (p.His2486Tyr) c.7381C>T (p.His2461Tyr) c.7081C>T (p.His2361Tyr) c.4345C>T (p.His1449Tyr) c.3238C>T (p.His1080Tyr) n.1830+5567G>A c.7264C>T (p.His2422Tyr) c.3016C>T (p.His1006Tyr) c.6244C>T (p.His2082Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776912A>C | CA4824202 | VPS13B | c.7460A>C (p.His2487Pro) n.7530A>C c.*3142A>C (n.*3142A>C) c.7385A>C (p.His2462Pro) n.378-1770A>C c.7457A>C (p.His2486Pro) c.7382A>C (p.His2461Pro) c.7082A>C (p.His2361Pro) c.4346A>C (p.His1449Pro) c.3239A>C (p.His1080Pro) n.1830+5566T>G c.7265A>C (p.His2422Pro) c.3017A>C (p.His1006Pro) c.6245A>C (p.His2082Pro) | dbSNP ExAC gnomAD v2 |
8 | g.99776912A>G | CA371875823 | VPS13B | c.7460A>G (p.His2487Arg) n.7530A>G c.*3142A>G (n.*3142A>G) c.7385A>G (p.His2462Arg) n.378-1770A>G c.7457A>G (p.His2486Arg) c.7382A>G (p.His2461Arg) c.7082A>G (p.His2361Arg) c.4346A>G (p.His1449Arg) c.3239A>G (p.His1080Arg) n.1830+5566T>C c.7265A>G (p.His2422Arg) c.3017A>G (p.His1006Arg) c.6245A>G (p.His2082Arg) | |
8 | g.99776912A>T | CA371875824 | VPS13B | c.7460A>T (p.His2487Leu) n.7530A>T c.*3142A>T (n.*3142A>T) c.7385A>T (p.His2462Leu) n.378-1770A>T c.7457A>T (p.His2486Leu) c.7382A>T (p.His2461Leu) c.7082A>T (p.His2361Leu) c.4346A>T (p.His1449Leu) c.3239A>T (p.His1080Leu) n.1830+5566T>A c.7265A>T (p.His2422Leu) c.3017A>T (p.His1006Leu) c.6245A>T (p.His2082Leu) | |
8 | g.99776913C>A | CA371875825 | VPS13B | c.7461C>A (p.His2487Gln) n.7531C>A c.*3143C>A (n.*3143C>A) c.7386C>A (p.His2462Gln) n.378-1769C>A c.7458C>A (p.His2486Gln) c.7383C>A (p.His2461Gln) c.7083C>A (p.His2361Gln) c.4347C>A (p.His1449Gln) c.3240C>A (p.His1080Gln) n.1830+5565G>T c.7266C>A (p.His2422Gln) c.3018C>A (p.His1006Gln) c.6246C>A (p.His2082Gln) | |
8 | g.99776913C>G | CA371875826 | VPS13B | c.7461C>G (p.His2487Gln) n.7531C>G c.*3143C>G (n.*3143C>G) c.7386C>G (p.His2462Gln) n.378-1769C>G c.7458C>G (p.His2486Gln) c.7383C>G (p.His2461Gln) c.7083C>G (p.His2361Gln) c.4347C>G (p.His1449Gln) c.3240C>G (p.His1080Gln) n.1830+5565G>C c.7266C>G (p.His2422Gln) c.3018C>G (p.His1006Gln) c.6246C>G (p.His2082Gln) | |
8 | g.99776913C>T | CA462449224 | VPS13B | c.7461C>T (p.His2487=) n.7531C>T c.*3143C>T (n.*3143C>T) c.7386C>T (p.His2462=) n.378-1769C>T c.7458C>T (p.His2486=) c.7383C>T (p.His2461=) c.7083C>T (p.His2361=) c.4347C>T (p.His1449=) c.3240C>T (p.His1080=) n.1830+5565G>A c.7266C>T (p.His2422=) c.3018C>T (p.His1006=) c.6246C>T (p.His2082=) | |
8 | g.99776914C>A | CA371875827 | VPS13B | c.7462C>A (p.Leu2488Met) n.7532C>A c.*3144C>A (n.*3144C>A) c.7387C>A (p.Leu2463Met) n.378-1768C>A c.7459C>A (p.Leu2487Met) c.7384C>A (p.Leu2462Met) c.7084C>A (p.Leu2362Met) c.4348C>A (p.Leu1450Met) c.3241C>A (p.Leu1081Met) n.1830+5564G>T c.7267C>A (p.Leu2423Met) c.3019C>A (p.Leu1007Met) c.6247C>A (p.Leu2083Met) | |
8 | g.99776914C>G | CA371875828 | VPS13B | c.7462C>G (p.Leu2488Val) n.7532C>G c.*3144C>G (n.*3144C>G) c.7387C>G (p.Leu2463Val) n.378-1768C>G c.7459C>G (p.Leu2487Val) c.7384C>G (p.Leu2462Val) c.7084C>G (p.Leu2362Val) c.4348C>G (p.Leu1450Val) c.3241C>G (p.Leu1081Val) n.1830+5564G>C c.7267C>G (p.Leu2423Val) c.3019C>G (p.Leu1007Val) c.6247C>G (p.Leu2083Val) | gnomAD v4 |
8 | g.99776914C>T | CA462449225 | VPS13B | c.7462C>T (p.Leu2488=) n.7532C>T c.*3144C>T (n.*3144C>T) c.7387C>T (p.Leu2463=) n.378-1768C>T c.7459C>T (p.Leu2487=) c.7384C>T (p.Leu2462=) c.7084C>T (p.Leu2362=) c.4348C>T (p.Leu1450=) c.3241C>T (p.Leu1081=) n.1830+5564G>A c.7267C>T (p.Leu2423=) c.3019C>T (p.Leu1007=) c.6247C>T (p.Leu2083=) | |
8 | g.99776915T>A | CA371875829 | VPS13B | c.7463T>A (p.Leu2488Gln) n.7533T>A c.*3145T>A (n.*3145T>A) c.7388T>A (p.Leu2463Gln) n.378-1767T>A c.7460T>A (p.Leu2487Gln) c.7385T>A (p.Leu2462Gln) c.7085T>A (p.Leu2362Gln) c.4349T>A (p.Leu1450Gln) c.3242T>A (p.Leu1081Gln) n.1830+5563A>T c.7268T>A (p.Leu2423Gln) c.3020T>A (p.Leu1007Gln) c.6248T>A (p.Leu2083Gln) | |
8 | g.99776915T>C | CA371875830 | VPS13B | c.7463T>C (p.Leu2488Pro) n.7533T>C c.*3145T>C (n.*3145T>C) c.7388T>C (p.Leu2463Pro) n.378-1767T>C c.7460T>C (p.Leu2487Pro) c.7385T>C (p.Leu2462Pro) c.7085T>C (p.Leu2362Pro) c.4349T>C (p.Leu1450Pro) c.3242T>C (p.Leu1081Pro) n.1830+5563A>G c.7268T>C (p.Leu2423Pro) c.3020T>C (p.Leu1007Pro) c.6248T>C (p.Leu2083Pro) | |
8 | g.99776915T>G | CA371875831 | VPS13B | c.7463T>G (p.Leu2488Arg) n.7533T>G c.*3145T>G (n.*3145T>G) c.7388T>G (p.Leu2463Arg) n.378-1767T>G c.7460T>G (p.Leu2487Arg) c.7385T>G (p.Leu2462Arg) c.7085T>G (p.Leu2362Arg) c.4349T>G (p.Leu1450Arg) c.3242T>G (p.Leu1081Arg) n.1830+5563A>C c.7268T>G (p.Leu2423Arg) c.3020T>G (p.Leu1007Arg) c.6248T>G (p.Leu2083Arg) | gnomAD v4 |
8 | g.99776916G>A | CA462449226 | VPS13B | c.7464G>A (p.Leu2488=) n.7534G>A c.*3146G>A (n.*3146G>A) c.7389G>A (p.Leu2463=) n.378-1766G>A c.7461G>A (p.Leu2487=) c.7386G>A (p.Leu2462=) c.7086G>A (p.Leu2362=) c.4350G>A (p.Leu1450=) c.3243G>A (p.Leu1081=) n.1830+5562C>T c.7269G>A (p.Leu2423=) c.3021G>A (p.Leu1007=) c.6249G>A (p.Leu2083=) | |
8 | g.99776916G>C | CA462449227 | VPS13B | c.7464G>C (p.Leu2488=) n.7534G>C c.*3146G>C (n.*3146G>C) c.7389G>C (p.Leu2463=) n.378-1766G>C c.7461G>C (p.Leu2487=) c.7386G>C (p.Leu2462=) c.7086G>C (p.Leu2362=) c.4350G>C (p.Leu1450=) c.3243G>C (p.Leu1081=) n.1830+5562C>G c.7269G>C (p.Leu2423=) c.3021G>C (p.Leu1007=) c.6249G>C (p.Leu2083=) | |
8 | g.99776916G>T | CA462449228 | VPS13B | c.7464G>T (p.Leu2488=) n.7534G>T c.*3146G>T (n.*3146G>T) c.7389G>T (p.Leu2463=) n.378-1766G>T c.7461G>T (p.Leu2487=) c.7386G>T (p.Leu2462=) c.7086G>T (p.Leu2362=) c.4350G>T (p.Leu1450=) c.3243G>T (p.Leu1081=) n.1830+5562C>A c.7269G>T (p.Leu2423=) c.3021G>T (p.Leu1007=) c.6249G>T (p.Leu2083=) | |
8 | g.99776917G>A | CA371875832 | VPS13B | c.7465G>A (p.Glu2489Lys) n.7535G>A c.*3147G>A (n.*3147G>A) c.7390G>A (p.Glu2464Lys) n.378-1765G>A c.7462G>A (p.Glu2488Lys) c.7387G>A (p.Glu2463Lys) c.7087G>A (p.Glu2363Lys) c.4351G>A (p.Glu1451Lys) c.3244G>A (p.Glu1082Lys) n.1830+5561C>T c.7270G>A (p.Glu2424Lys) c.3022G>A (p.Glu1008Lys) c.6250G>A (p.Glu2084Lys) | |
8 | g.99776917G>C | CA4824203 | VPS13B | c.7465G>C (p.Glu2489Gln) n.7535G>C c.*3147G>C (n.*3147G>C) c.7390G>C (p.Glu2464Gln) n.378-1765G>C c.7462G>C (p.Glu2488Gln) c.7387G>C (p.Glu2463Gln) c.7087G>C (p.Glu2363Gln) c.4351G>C (p.Glu1451Gln) c.3244G>C (p.Glu1082Gln) n.1830+5561C>G c.7270G>C (p.Glu2424Gln) c.3022G>C (p.Glu1008Gln) c.6250G>C (p.Glu2084Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776917G>T | CA371875833 | VPS13B | c.7465G>T (p.Glu2489Ter) n.7535G>T c.*3147G>T (n.*3147G>T) c.7390G>T (p.Glu2464Ter) n.378-1765G>T c.7462G>T (p.Glu2488Ter) c.7387G>T (p.Glu2463Ter) c.7087G>T (p.Glu2363Ter) c.4351G>T (p.Glu1451Ter) c.3244G>T (p.Glu1082Ter) n.1830+5561C>A c.7270G>T (p.Glu2424Ter) c.3022G>T (p.Glu1008Ter) c.6250G>T (p.Glu2084Ter) | gnomAD v4 |
8 | g.99776918A>C | CA371875834 | VPS13B | c.7466A>C (p.Glu2489Ala) n.7536A>C c.*3148A>C (n.*3148A>C) c.7391A>C (p.Glu2464Ala) n.378-1764A>C c.7463A>C (p.Glu2488Ala) c.7388A>C (p.Glu2463Ala) c.7088A>C (p.Glu2363Ala) c.4352A>C (p.Glu1451Ala) c.3245A>C (p.Glu1082Ala) n.1830+5560T>G c.7271A>C (p.Glu2424Ala) c.3023A>C (p.Glu1008Ala) c.6251A>C (p.Glu2084Ala) | |
8 | g.99776918A>G | CA371875835 | VPS13B | c.7466A>G (p.Glu2489Gly) n.7536A>G c.*3148A>G (n.*3148A>G) c.7391A>G (p.Glu2464Gly) n.378-1764A>G c.7463A>G (p.Glu2488Gly) c.7388A>G (p.Glu2463Gly) c.7088A>G (p.Glu2363Gly) c.4352A>G (p.Glu1451Gly) c.3245A>G (p.Glu1082Gly) n.1830+5560T>C c.7271A>G (p.Glu2424Gly) c.3023A>G (p.Glu1008Gly) c.6251A>G (p.Glu2084Gly) | |
8 | g.99776918A>T | CA371875836 | VPS13B | c.7466A>T (p.Glu2489Val) n.7536A>T c.*3148A>T (n.*3148A>T) c.7391A>T (p.Glu2464Val) n.378-1764A>T c.7463A>T (p.Glu2488Val) c.7388A>T (p.Glu2463Val) c.7088A>T (p.Glu2363Val) c.4352A>T (p.Glu1451Val) c.3245A>T (p.Glu1082Val) n.1830+5560T>A c.7271A>T (p.Glu2424Val) c.3023A>T (p.Glu1008Val) c.6251A>T (p.Glu2084Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776919A>C | CA371875837 | VPS13B | c.7467A>C (p.Glu2489Asp) n.7537A>C c.*3149A>C (n.*3149A>C) c.7392A>C (p.Glu2464Asp) n.378-1763A>C c.7464A>C (p.Glu2488Asp) c.7389A>C (p.Glu2463Asp) c.7089A>C (p.Glu2363Asp) c.4353A>C (p.Glu1451Asp) c.3246A>C (p.Glu1082Asp) n.1830+5559T>G c.7272A>C (p.Glu2424Asp) c.3024A>C (p.Glu1008Asp) c.6252A>C (p.Glu2084Asp) | |
8 | g.99776919A>G | CA4824204 | VPS13B | c.7467A>G (p.Glu2489=) n.7537A>G c.*3149A>G (n.*3149A>G) c.7392A>G (p.Glu2464=) n.378-1763A>G c.7464A>G (p.Glu2488=) c.7389A>G (p.Glu2463=) c.7089A>G (p.Glu2363=) c.4353A>G (p.Glu1451=) c.3246A>G (p.Glu1082=) n.1830+5559T>C c.7272A>G (p.Glu2424=) c.3024A>G (p.Glu1008=) c.6252A>G (p.Glu2084=) | dbSNP ExAC gnomAD v2 |
8 | g.99776919A>T | CA371875838 | VPS13B | c.7467A>T (p.Glu2489Asp) n.7537A>T c.*3149A>T (n.*3149A>T) c.7392A>T (p.Glu2464Asp) n.378-1763A>T c.7464A>T (p.Glu2488Asp) c.7389A>T (p.Glu2463Asp) c.7089A>T (p.Glu2363Asp) c.4353A>T (p.Glu1451Asp) c.3246A>T (p.Glu1082Asp) n.1830+5559T>A c.7272A>T (p.Glu2424Asp) c.3024A>T (p.Glu1008Asp) c.6252A>T (p.Glu2084Asp) | |
8 | g.99776920T>A | CA371875841 | VPS13B | c.7468T>A (p.Phe2490Ile) n.7538T>A c.*3150T>A (n.*3150T>A) c.7393T>A (p.Phe2465Ile) n.378-1762T>A c.7465T>A (p.Phe2489Ile) c.7390T>A (p.Phe2464Ile) c.7090T>A (p.Phe2364Ile) c.4354T>A (p.Phe1452Ile) c.3247T>A (p.Phe1083Ile) n.1830+5558A>T c.7273T>A (p.Phe2425Ile) c.3025T>A (p.Phe1009Ile) c.6253T>A (p.Phe2085Ile) | |
8 | g.99776920T>C | CA371875840 | VPS13B | c.7468T>C (p.Phe2490Leu) n.7538T>C c.*3150T>C (n.*3150T>C) c.7393T>C (p.Phe2465Leu) n.378-1762T>C c.7465T>C (p.Phe2489Leu) c.7390T>C (p.Phe2464Leu) c.7090T>C (p.Phe2364Leu) c.4354T>C (p.Phe1452Leu) c.3247T>C (p.Phe1083Leu) n.1830+5558A>G c.7273T>C (p.Phe2425Leu) c.3025T>C (p.Phe1009Leu) c.6253T>C (p.Phe2085Leu) | |
8 | g.99776920T>G | CA371875839 | VPS13B | c.7468T>G (p.Phe2490Val) n.7538T>G c.*3150T>G (n.*3150T>G) c.7393T>G (p.Phe2465Val) n.378-1762T>G c.7465T>G (p.Phe2489Val) c.7390T>G (p.Phe2464Val) c.7090T>G (p.Phe2364Val) c.4354T>G (p.Phe1452Val) c.3247T>G (p.Phe1083Val) n.1830+5558A>C c.7273T>G (p.Phe2425Val) c.3025T>G (p.Phe1009Val) c.6253T>G (p.Phe2085Val) | |
8 | g.99776921del | CA2688068079 | VPS13B | c.7469del (p.Phe2490SerfsTer10) n.7539del c.*3151del (n.*3151del) c.7394del (p.Phe2465SerfsTer10) n.378-1761del c.7466del (p.Phe2489SerfsTer10) c.7391del (p.Phe2464SerfsTer10) c.7091del (p.Phe2364SerfsTer10) c.4355del (p.Phe1452SerfsTer10) c.3248del (p.Phe1083SerfsTer10) n.1830+5558del c.7274del (p.Phe2425SerfsTer10) c.3026del (p.Phe1009SerfsTer10) c.6254del (p.Phe2085SerfsTer10) | gnomAD v4 |
8 | g.99776921T>A | CA371875842 | VPS13B | c.7469T>A (p.Phe2490Tyr) n.7539T>A c.*3151T>A (n.*3151T>A) c.7394T>A (p.Phe2465Tyr) n.378-1761T>A c.7466T>A (p.Phe2489Tyr) c.7391T>A (p.Phe2464Tyr) c.7091T>A (p.Phe2364Tyr) c.4355T>A (p.Phe1452Tyr) c.3248T>A (p.Phe1083Tyr) n.1830+5557A>T c.7274T>A (p.Phe2425Tyr) c.3026T>A (p.Phe1009Tyr) c.6254T>A (p.Phe2085Tyr) | gnomAD v4 |
8 | g.99776921T>C | CA371875843 | VPS13B | c.7469T>C (p.Phe2490Ser) n.7539T>C c.*3151T>C (n.*3151T>C) c.7394T>C (p.Phe2465Ser) n.378-1761T>C c.7466T>C (p.Phe2489Ser) c.7391T>C (p.Phe2464Ser) c.7091T>C (p.Phe2364Ser) c.4355T>C (p.Phe1452Ser) c.3248T>C (p.Phe1083Ser) n.1830+5557A>G c.7274T>C (p.Phe2425Ser) c.3026T>C (p.Phe1009Ser) c.6254T>C (p.Phe2085Ser) | |
8 | g.99776921T>G | CA371875844 | VPS13B | c.7469T>G (p.Phe2490Cys) n.7539T>G c.*3151T>G (n.*3151T>G) c.7394T>G (p.Phe2465Cys) n.378-1761T>G c.7466T>G (p.Phe2489Cys) c.7391T>G (p.Phe2464Cys) c.7091T>G (p.Phe2364Cys) c.4355T>G (p.Phe1452Cys) c.3248T>G (p.Phe1083Cys) n.1830+5557A>C c.7274T>G (p.Phe2425Cys) c.3026T>G (p.Phe1009Cys) c.6254T>G (p.Phe2085Cys) | |
8 | g.99776921_99776922del | CA913128138 | VPS13B | c.7469_7470del (p.Phe2490SerfsTer7) n.7539_7540del c.*3151_*3152del (n.*3151_*3152del) c.7394_7395del (p.Phe2465SerfsTer7) n.378-1761_378-1760del c.7466_7467del (p.Phe2489SerfsTer7) c.7391_7392del (p.Phe2464SerfsTer7) c.7091_7092del (p.Phe2364SerfsTer7) c.4355_4356del (p.Phe1452SerfsTer7) c.3248_3249del (p.Phe1083SerfsTer7) n.1830+5556_1830+5557del c.7274_7275del (p.Phe2425SerfsTer7) c.3026_3027del (p.Phe1009SerfsTer7) c.6254_6255del (p.Phe2085SerfsTer7) | |
8 | g.99776922C>A | CA371875845 | VPS13B | c.7470C>A (p.Phe2490Leu) n.7540C>A c.*3152C>A (n.*3152C>A) c.7395C>A (p.Phe2465Leu) n.378-1760C>A c.7467C>A (p.Phe2489Leu) c.7392C>A (p.Phe2464Leu) c.7092C>A (p.Phe2364Leu) c.4356C>A (p.Phe1452Leu) c.3249C>A (p.Phe1083Leu) n.1830+5556G>T c.7275C>A (p.Phe2425Leu) c.3027C>A (p.Phe1009Leu) c.6255C>A (p.Phe2085Leu) | |
8 | g.99776922C>G | CA371875846 | VPS13B | c.7470C>G (p.Phe2490Leu) n.7540C>G c.*3152C>G (n.*3152C>G) c.7395C>G (p.Phe2465Leu) n.378-1760C>G c.7467C>G (p.Phe2489Leu) c.7392C>G (p.Phe2464Leu) c.7092C>G (p.Phe2364Leu) c.4356C>G (p.Phe1452Leu) c.3249C>G (p.Phe1083Leu) n.1830+5556G>C c.7275C>G (p.Phe2425Leu) c.3027C>G (p.Phe1009Leu) c.6255C>G (p.Phe2085Leu) | |
8 | g.99776922C>T | CA462449229 | VPS13B | c.7470C>T (p.Phe2490=) n.7540C>T c.*3152C>T (n.*3152C>T) c.7395C>T (p.Phe2465=) n.378-1760C>T c.7467C>T (p.Phe2489=) c.7392C>T (p.Phe2464=) c.7092C>T (p.Phe2364=) c.4356C>T (p.Phe1452=) c.3249C>T (p.Phe1083=) n.1830+5556G>A c.7275C>T (p.Phe2425=) c.3027C>T (p.Phe1009=) c.6255C>T (p.Phe2085=) | ClinVar dbSNP |
8 | g.99776923del | CA658821175 | VPS13B | c.7471del (p.His2491IlefsTer9) n.7541del c.*3153del (n.*3153del) c.7396del (p.His2466IlefsTer9) n.378-1759del c.7468del (p.His2490IlefsTer9) c.7393del (p.His2465IlefsTer9) c.7093del (p.His2365IlefsTer9) c.4357del (p.His1453IlefsTer9) c.3250del (p.His1084IlefsTer9) n.1830+5556del c.7276del (p.His2426IlefsTer9) c.3028del (p.His1010IlefsTer9) c.6256del (p.His2086IlefsTer9) | ClinVar dbSNP |
8 | g.99776923C>A | CA371875847 | VPS13B | c.7471C>A (p.His2491Asn) n.7541C>A c.*3153C>A (n.*3153C>A) c.7396C>A (p.His2466Asn) n.378-1759C>A c.7468C>A (p.His2490Asn) c.7393C>A (p.His2465Asn) c.7093C>A (p.His2365Asn) c.4357C>A (p.His1453Asn) c.3250C>A (p.His1084Asn) n.1830+5555G>T c.7276C>A (p.His2426Asn) c.3028C>A (p.His1010Asn) c.6256C>A (p.His2086Asn) | |
8 | g.99776923C>G | CA371875848 | VPS13B | c.7471C>G (p.His2491Asp) n.7541C>G c.*3153C>G (n.*3153C>G) c.7396C>G (p.His2466Asp) n.378-1759C>G c.7468C>G (p.His2490Asp) c.7393C>G (p.His2465Asp) c.7093C>G (p.His2365Asp) c.4357C>G (p.His1453Asp) c.3250C>G (p.His1084Asp) n.1830+5555G>C c.7276C>G (p.His2426Asp) c.3028C>G (p.His1010Asp) c.6256C>G (p.His2086Asp) | |
8 | g.99776923C>T | CA4824205 | VPS13B | c.7471C>T (p.His2491Tyr) n.7541C>T c.*3153C>T (n.*3153C>T) c.7396C>T (p.His2466Tyr) n.378-1759C>T c.7468C>T (p.His2490Tyr) c.7393C>T (p.His2465Tyr) c.7093C>T (p.His2365Tyr) c.4357C>T (p.His1453Tyr) c.3250C>T (p.His1084Tyr) n.1830+5555G>A c.7276C>T (p.His2426Tyr) c.3028C>T (p.His1010Tyr) c.6256C>T (p.His2086Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776924A>C | CA371875849 | VPS13B | c.7472A>C (p.His2491Pro) n.7542A>C c.*3154A>C (n.*3154A>C) c.7397A>C (p.His2466Pro) n.378-1758A>C c.7469A>C (p.His2490Pro) c.7394A>C (p.His2465Pro) c.7094A>C (p.His2365Pro) c.4358A>C (p.His1453Pro) c.3251A>C (p.His1084Pro) n.1830+5554T>G c.7277A>C (p.His2426Pro) c.3029A>C (p.His1010Pro) c.6257A>C (p.His2086Pro) | |
8 | g.99776924A>G | CA371875850 | VPS13B | c.7472A>G (p.His2491Arg) n.7542A>G c.*3154A>G (n.*3154A>G) c.7397A>G (p.His2466Arg) n.378-1758A>G c.7469A>G (p.His2490Arg) c.7394A>G (p.His2465Arg) c.7094A>G (p.His2365Arg) c.4358A>G (p.His1453Arg) c.3251A>G (p.His1084Arg) n.1830+5554T>C c.7277A>G (p.His2426Arg) c.3029A>G (p.His1010Arg) c.6257A>G (p.His2086Arg) | dbSNP gnomAD v4 |
8 | g.99776924A>T | CA371875851 | VPS13B | c.7472A>T (p.His2491Leu) n.7542A>T c.*3154A>T (n.*3154A>T) c.7397A>T (p.His2466Leu) n.378-1758A>T c.7469A>T (p.His2490Leu) c.7394A>T (p.His2465Leu) c.7094A>T (p.His2365Leu) c.4358A>T (p.His1453Leu) c.3251A>T (p.His1084Leu) n.1830+5554T>A c.7277A>T (p.His2426Leu) c.3029A>T (p.His1010Leu) c.6257A>T (p.His2086Leu) | |
8 | g.99776925T>A | CA371875852 | VPS13B | c.7473T>A (p.His2491Gln) n.7543T>A c.*3155T>A (n.*3155T>A) c.7398T>A (p.His2466Gln) n.378-1757T>A c.7470T>A (p.His2490Gln) c.7395T>A (p.His2465Gln) c.7095T>A (p.His2365Gln) c.4359T>A (p.His1453Gln) c.3252T>A (p.His1084Gln) n.1830+5553A>T c.7278T>A (p.His2426Gln) c.3030T>A (p.His1010Gln) c.6258T>A (p.His2086Gln) | |
8 | g.99776925T>C | CA462449230 | VPS13B | c.7473T>C (p.His2491=) n.7543T>C c.*3155T>C (n.*3155T>C) c.7398T>C (p.His2466=) n.378-1757T>C c.7470T>C (p.His2490=) c.7395T>C (p.His2465=) c.7095T>C (p.His2365=) c.4359T>C (p.His1453=) c.3252T>C (p.His1084=) n.1830+5553A>G c.7278T>C (p.His2426=) c.3030T>C (p.His1010=) c.6258T>C (p.His2086=) | |
8 | g.99776925T>G | CA371875853 | VPS13B | c.7473T>G (p.His2491Gln) n.7543T>G c.*3155T>G (n.*3155T>G) c.7398T>G (p.His2466Gln) n.378-1757T>G c.7470T>G (p.His2490Gln) c.7395T>G (p.His2465Gln) c.7095T>G (p.His2365Gln) c.4359T>G (p.His1453Gln) c.3252T>G (p.His1084Gln) n.1830+5553A>C c.7278T>G (p.His2426Gln) c.3030T>G (p.His1010Gln) c.6258T>G (p.His2086Gln) | |
8 | g.99776926C>A | CA371875855 | VPS13B | c.7474C>A (p.Leu2492Ile) n.7544C>A c.*3156C>A (n.*3156C>A) c.7399C>A (p.Leu2467Ile) n.378-1756C>A c.7471C>A (p.Leu2491Ile) c.7396C>A (p.Leu2466Ile) c.7096C>A (p.Leu2366Ile) c.4360C>A (p.Leu1454Ile) c.3253C>A (p.Leu1085Ile) n.1830+5552G>T c.7279C>A (p.Leu2427Ile) c.3031C>A (p.Leu1011Ile) c.6259C>A (p.Leu2087Ile) | dbSNP |
8 | g.99776926C>G | CA371875856 | VPS13B | c.7474C>G (p.Leu2492Val) n.7544C>G c.*3156C>G (n.*3156C>G) c.7399C>G (p.Leu2467Val) n.378-1756C>G c.7471C>G (p.Leu2491Val) c.7396C>G (p.Leu2466Val) c.7096C>G (p.Leu2366Val) c.4360C>G (p.Leu1454Val) c.3253C>G (p.Leu1085Val) n.1830+5552G>C c.7279C>G (p.Leu2427Val) c.3031C>G (p.Leu1011Val) c.6259C>G (p.Leu2087Val) | |
8 | g.99776926C>T | CA371875854 | VPS13B | c.7474C>T (p.Leu2492Phe) n.7544C>T c.*3156C>T (n.*3156C>T) c.7399C>T (p.Leu2467Phe) n.378-1756C>T c.7471C>T (p.Leu2491Phe) c.7396C>T (p.Leu2466Phe) c.7096C>T (p.Leu2366Phe) c.4360C>T (p.Leu1454Phe) c.3253C>T (p.Leu1085Phe) n.1830+5552G>A c.7279C>T (p.Leu2427Phe) c.3031C>T (p.Leu1011Phe) c.6259C>T (p.Leu2087Phe) | |
8 | g.99776927T>A | CA371875858 | VPS13B | c.7475T>A (p.Leu2492His) n.7545T>A c.*3157T>A (n.*3157T>A) c.7400T>A (p.Leu2467His) n.378-1755T>A c.7472T>A (p.Leu2491His) c.7397T>A (p.Leu2466His) c.7097T>A (p.Leu2366His) c.4361T>A (p.Leu1454His) c.3254T>A (p.Leu1085His) n.1830+5551A>T c.7280T>A (p.Leu2427His) c.3032T>A (p.Leu1011His) c.6260T>A (p.Leu2087His) | |
8 | g.99776927T>C | CA371875857 | VPS13B | c.7475T>C (p.Leu2492Pro) n.7545T>C c.*3157T>C (n.*3157T>C) c.7400T>C (p.Leu2467Pro) n.378-1755T>C c.7472T>C (p.Leu2491Pro) c.7397T>C (p.Leu2466Pro) c.7097T>C (p.Leu2366Pro) c.4361T>C (p.Leu1454Pro) c.3254T>C (p.Leu1085Pro) n.1830+5551A>G c.7280T>C (p.Leu2427Pro) c.3032T>C (p.Leu1011Pro) c.6260T>C (p.Leu2087Pro) | |
8 | g.99776927T>G | CA371875859 | VPS13B | c.7475T>G (p.Leu2492Arg) n.7545T>G c.*3157T>G (n.*3157T>G) c.7400T>G (p.Leu2467Arg) n.378-1755T>G c.7472T>G (p.Leu2491Arg) c.7397T>G (p.Leu2466Arg) c.7097T>G (p.Leu2366Arg) c.4361T>G (p.Leu1454Arg) c.3254T>G (p.Leu1085Arg) n.1830+5551A>C c.7280T>G (p.Leu2427Arg) c.3032T>G (p.Leu1011Arg) c.6260T>G (p.Leu2087Arg) | |
8 | g.99776928T>A | CA462449231 | VPS13B | c.7476T>A (p.Leu2492=) n.7546T>A c.*3158T>A (n.*3158T>A) c.7401T>A (p.Leu2467=) n.378-1754T>A c.7473T>A (p.Leu2491=) c.7398T>A (p.Leu2466=) c.7098T>A (p.Leu2366=) c.4362T>A (p.Leu1454=) c.3255T>A (p.Leu1085=) n.1830+5550A>T c.7281T>A (p.Leu2427=) c.3033T>A (p.Leu1011=) c.6261T>A (p.Leu2087=) | |
8 | g.99776928T>C | CA462449232 | VPS13B | c.7476T>C (p.Leu2492=) n.7546T>C c.*3158T>C (n.*3158T>C) c.7401T>C (p.Leu2467=) n.378-1754T>C c.7473T>C (p.Leu2491=) c.7398T>C (p.Leu2466=) c.7098T>C (p.Leu2366=) c.4362T>C (p.Leu1454=) c.3255T>C (p.Leu1085=) n.1830+5550A>G c.7281T>C (p.Leu2427=) c.3033T>C (p.Leu1011=) c.6261T>C (p.Leu2087=) | |
8 | g.99776928T>G | CA462449233 | VPS13B | c.7476T>G (p.Leu2492=) n.7546T>G c.*3158T>G (n.*3158T>G) c.7401T>G (p.Leu2467=) n.378-1754T>G c.7473T>G (p.Leu2491=) c.7398T>G (p.Leu2466=) c.7098T>G (p.Leu2366=) c.4362T>G (p.Leu1454=) c.3255T>G (p.Leu1085=) n.1830+5550A>C c.7281T>G (p.Leu2427=) c.3033T>G (p.Leu1011=) c.6261T>G (p.Leu2087=) | |
8 | g.99776929T>A | CA371875860 | VPS13B | c.7477T>A (p.Cys2493Ser) n.7547T>A c.*3159T>A (n.*3159T>A) c.7402T>A (p.Cys2468Ser) n.378-1753T>A c.7474T>A (p.Cys2492Ser) c.7399T>A (p.Cys2467Ser) c.7099T>A (p.Cys2367Ser) c.4363T>A (p.Cys1455Ser) c.3256T>A (p.Cys1086Ser) n.1830+5549A>T c.7282T>A (p.Cys2428Ser) c.3034T>A (p.Cys1012Ser) c.6262T>A (p.Cys2088Ser) | |
8 | g.99776929T>C | CA371875862 | VPS13B | c.7477T>C (p.Cys2493Arg) n.7547T>C c.*3159T>C (n.*3159T>C) c.7402T>C (p.Cys2468Arg) n.378-1753T>C c.7474T>C (p.Cys2492Arg) c.7399T>C (p.Cys2467Arg) c.7099T>C (p.Cys2367Arg) c.4363T>C (p.Cys1455Arg) c.3256T>C (p.Cys1086Arg) n.1830+5549A>G c.7282T>C (p.Cys2428Arg) c.3034T>C (p.Cys1012Arg) c.6262T>C (p.Cys2088Arg) | |
8 | g.99776929T>G | CA371875861 | VPS13B | c.7477T>G (p.Cys2493Gly) n.7547T>G c.*3159T>G (n.*3159T>G) c.7402T>G (p.Cys2468Gly) n.378-1753T>G c.7474T>G (p.Cys2492Gly) c.7399T>G (p.Cys2467Gly) c.7099T>G (p.Cys2367Gly) c.4363T>G (p.Cys1455Gly) c.3256T>G (p.Cys1086Gly) n.1830+5549A>C c.7282T>G (p.Cys2428Gly) c.3034T>G (p.Cys1012Gly) c.6262T>G (p.Cys2088Gly) | |
8 | g.99776930G>A | CA371875863 | VPS13B | c.7478G>A (p.Cys2493Tyr) n.7548G>A c.*3160G>A (n.*3160G>A) c.7403G>A (p.Cys2468Tyr) n.378-1752G>A c.7475G>A (p.Cys2492Tyr) c.7400G>A (p.Cys2467Tyr) c.7100G>A (p.Cys2367Tyr) c.4364G>A (p.Cys1455Tyr) c.3257G>A (p.Cys1086Tyr) n.1830+5548C>T c.7283G>A (p.Cys2428Tyr) c.3035G>A (p.Cys1012Tyr) c.6263G>A (p.Cys2088Tyr) | |
8 | g.99776930G>C | CA371875865 | VPS13B | c.7478G>C (p.Cys2493Ser) n.7548G>C c.*3160G>C (n.*3160G>C) c.7403G>C (p.Cys2468Ser) n.378-1752G>C c.7475G>C (p.Cys2492Ser) c.7400G>C (p.Cys2467Ser) c.7100G>C (p.Cys2367Ser) c.4364G>C (p.Cys1455Ser) c.3257G>C (p.Cys1086Ser) n.1830+5548C>G c.7283G>C (p.Cys2428Ser) c.3035G>C (p.Cys1012Ser) c.6263G>C (p.Cys2088Ser) | |
8 | g.99776930G>T | CA371875864 | VPS13B | c.7478G>T (p.Cys2493Phe) n.7548G>T c.*3160G>T (n.*3160G>T) c.7403G>T (p.Cys2468Phe) n.378-1752G>T c.7475G>T (p.Cys2492Phe) c.7400G>T (p.Cys2467Phe) c.7100G>T (p.Cys2367Phe) c.4364G>T (p.Cys1455Phe) c.3257G>T (p.Cys1086Phe) n.1830+5548C>A c.7283G>T (p.Cys2428Phe) c.3035G>T (p.Cys1012Phe) c.6263G>T (p.Cys2088Phe) | gnomAD v4 |
8 | g.99776931T>A | CA371875866 | VPS13B | c.7479T>A (p.Cys2493Ter) n.7549T>A c.*3161T>A (n.*3161T>A) c.7404T>A (p.Cys2468Ter) n.378-1751T>A c.7476T>A (p.Cys2492Ter) c.7401T>A (p.Cys2467Ter) c.7101T>A (p.Cys2367Ter) c.4365T>A (p.Cys1455Ter) c.3258T>A (p.Cys1086Ter) n.1830+5547A>T c.7284T>A (p.Cys2428Ter) c.3036T>A (p.Cys1012Ter) c.6264T>A (p.Cys2088Ter) | |
8 | g.99776931T>C | CA462449234 | VPS13B | c.7479T>C (p.Cys2493=) n.7549T>C c.*3161T>C (n.*3161T>C) c.7404T>C (p.Cys2468=) n.378-1751T>C c.7476T>C (p.Cys2492=) c.7401T>C (p.Cys2467=) c.7101T>C (p.Cys2367=) c.4365T>C (p.Cys1455=) c.3258T>C (p.Cys1086=) n.1830+5547A>G c.7284T>C (p.Cys2428=) c.3036T>C (p.Cys1012=) c.6264T>C (p.Cys2088=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776931T>G | CA371875867 | VPS13B | c.7479T>G (p.Cys2493Trp) n.7549T>G c.*3161T>G (n.*3161T>G) c.7404T>G (p.Cys2468Trp) n.378-1751T>G c.7476T>G (p.Cys2492Trp) c.7401T>G (p.Cys2467Trp) c.7101T>G (p.Cys2367Trp) c.4365T>G (p.Cys1455Trp) c.3258T>G (p.Cys1086Trp) n.1830+5547A>C c.7284T>G (p.Cys2428Trp) c.3036T>G (p.Cys1012Trp) c.6264T>G (p.Cys2088Trp) | |
8 | g.99776932C>A | CA371875868 | VPS13B | c.7480C>A (p.His2494Asn) n.7550C>A c.*3162C>A (n.*3162C>A) c.7405C>A (p.His2469Asn) n.378-1750C>A c.7477C>A (p.His2493Asn) c.7402C>A (p.His2468Asn) c.7102C>A (p.His2368Asn) c.4366C>A (p.His1456Asn) c.3259C>A (p.His1087Asn) n.1830+5546G>T c.7285C>A (p.His2429Asn) c.3037C>A (p.His1013Asn) c.6265C>A (p.His2089Asn) | |
8 | g.99776932C>G | CA371875869 | VPS13B | c.7480C>G (p.His2494Asp) n.7550C>G c.*3162C>G (n.*3162C>G) c.7405C>G (p.His2469Asp) n.378-1750C>G c.7477C>G (p.His2493Asp) c.7402C>G (p.His2468Asp) c.7102C>G (p.His2368Asp) c.4366C>G (p.His1456Asp) c.3259C>G (p.His1087Asp) n.1830+5546G>C c.7285C>G (p.His2429Asp) c.3037C>G (p.His1013Asp) c.6265C>G (p.His2089Asp) | |
8 | g.99776932C>T | CA371875870 | VPS13B | c.7480C>T (p.His2494Tyr) n.7550C>T c.*3162C>T (n.*3162C>T) c.7405C>T (p.His2469Tyr) n.378-1750C>T c.7477C>T (p.His2493Tyr) c.7402C>T (p.His2468Tyr) c.7102C>T (p.His2368Tyr) c.4366C>T (p.His1456Tyr) c.3259C>T (p.His1087Tyr) n.1830+5546G>A c.7285C>T (p.His2429Tyr) c.3037C>T (p.His1013Tyr) c.6265C>T (p.His2089Tyr) | |
8 | g.99776933A>C | CA371875871 | VPS13B | c.7481A>C (p.His2494Pro) n.7551A>C c.*3163A>C (n.*3163A>C) c.7406A>C (p.His2469Pro) n.378-1749A>C c.7478A>C (p.His2493Pro) c.7403A>C (p.His2468Pro) c.7103A>C (p.His2368Pro) c.4367A>C (p.His1456Pro) c.3260A>C (p.His1087Pro) n.1830+5545T>G c.7286A>C (p.His2429Pro) c.3038A>C (p.His1013Pro) c.6266A>C (p.His2089Pro) | |
8 | g.99776933A>G | CA371875872 | VPS13B | c.7481A>G (p.His2494Arg) n.7551A>G c.*3163A>G (n.*3163A>G) c.7406A>G (p.His2469Arg) n.378-1749A>G c.7478A>G (p.His2493Arg) c.7403A>G (p.His2468Arg) c.7103A>G (p.His2368Arg) c.4367A>G (p.His1456Arg) c.3260A>G (p.His1087Arg) n.1830+5545T>C c.7286A>G (p.His2429Arg) c.3038A>G (p.His1013Arg) c.6266A>G (p.His2089Arg) | ClinVar |
8 | g.99776933A>T | CA371875873 | VPS13B | c.7481A>T (p.His2494Leu) n.7551A>T c.*3163A>T (n.*3163A>T) c.7406A>T (p.His2469Leu) n.378-1749A>T c.7478A>T (p.His2493Leu) c.7403A>T (p.His2468Leu) c.7103A>T (p.His2368Leu) c.4367A>T (p.His1456Leu) c.3260A>T (p.His1087Leu) n.1830+5545T>A c.7286A>T (p.His2429Leu) c.3038A>T (p.His1013Leu) c.6266A>T (p.His2089Leu) | |
8 | g.99776934T>A | CA371875874 | VPS13B | c.7482T>A (p.His2494Gln) n.7552T>A c.*3164T>A (n.*3164T>A) c.7407T>A (p.His2469Gln) n.378-1748T>A c.7479T>A (p.His2493Gln) c.7404T>A (p.His2468Gln) c.7104T>A (p.His2368Gln) c.4368T>A (p.His1456Gln) c.3261T>A (p.His1087Gln) n.1830+5544A>T c.7287T>A (p.His2429Gln) c.3039T>A (p.His1013Gln) c.6267T>A (p.His2089Gln) | |
8 | g.99776934T>C | CA462449235 | VPS13B | c.7482T>C (p.His2494=) n.7552T>C c.*3164T>C (n.*3164T>C) c.7407T>C (p.His2469=) n.378-1748T>C c.7479T>C (p.His2493=) c.7404T>C (p.His2468=) c.7104T>C (p.His2368=) c.4368T>C (p.His1456=) c.3261T>C (p.His1087=) n.1830+5544A>G c.7287T>C (p.His2429=) c.3039T>C (p.His1013=) c.6267T>C (p.His2089=) | gnomAD v4 |
8 | g.99776934T>G | CA371875875 | VPS13B | c.7482T>G (p.His2494Gln) n.7552T>G c.*3164T>G (n.*3164T>G) c.7407T>G (p.His2469Gln) n.378-1748T>G c.7479T>G (p.His2493Gln) c.7404T>G (p.His2468Gln) c.7104T>G (p.His2368Gln) c.4368T>G (p.His1456Gln) c.3261T>G (p.His1087Gln) n.1830+5544A>C c.7287T>G (p.His2429Gln) c.3039T>G (p.His1013Gln) c.6267T>G (p.His2089Gln) | |
8 | g.99776935C>A | CA371875876 | VPS13B | c.7483C>A (p.His2495Asn) n.7553C>A c.*3165C>A (n.*3165C>A) c.7408C>A (p.His2470Asn) n.378-1747C>A c.7480C>A (p.His2494Asn) c.7405C>A (p.His2469Asn) c.7105C>A (p.His2369Asn) c.4369C>A (p.His1457Asn) c.3262C>A (p.His1088Asn) n.1830+5543G>T c.7288C>A (p.His2430Asn) c.3040C>A (p.His1014Asn) c.6268C>A (p.His2090Asn) | |
8 | g.99776935C>G | CA371875877 | VPS13B | c.7483C>G (p.His2495Asp) n.7553C>G c.*3165C>G (n.*3165C>G) c.7408C>G (p.His2470Asp) n.378-1747C>G c.7480C>G (p.His2494Asp) c.7405C>G (p.His2469Asp) c.7105C>G (p.His2369Asp) c.4369C>G (p.His1457Asp) c.3262C>G (p.His1088Asp) n.1830+5543G>C c.7288C>G (p.His2430Asp) c.3040C>G (p.His1014Asp) c.6268C>G (p.His2090Asp) | |
8 | g.99776935C>T | CA371875878 | VPS13B | c.7483C>T (p.His2495Tyr) n.7553C>T c.*3165C>T (n.*3165C>T) c.7408C>T (p.His2470Tyr) n.378-1747C>T c.7480C>T (p.His2494Tyr) c.7405C>T (p.His2469Tyr) c.7105C>T (p.His2369Tyr) c.4369C>T (p.His1457Tyr) c.3262C>T (p.His1088Tyr) n.1830+5543G>A c.7288C>T (p.His2430Tyr) c.3040C>T (p.His1014Tyr) c.6268C>T (p.His2090Tyr) | COSMIC COSMIC |
8 | g.99776936A>C | CA371875879 | VPS13B | c.7484A>C (p.His2495Pro) n.7554A>C c.*3166A>C (n.*3166A>C) c.7409A>C (p.His2470Pro) n.378-1746A>C c.7481A>C (p.His2494Pro) c.7406A>C (p.His2469Pro) c.7106A>C (p.His2369Pro) c.4370A>C (p.His1457Pro) c.3263A>C (p.His1088Pro) n.1830+5542T>G c.7289A>C (p.His2430Pro) c.3041A>C (p.His1014Pro) c.6269A>C (p.His2090Pro) | |
8 | g.99776936A>G | CA371875880 | VPS13B | c.7484A>G (p.His2495Arg) n.7554A>G c.*3166A>G (n.*3166A>G) c.7409A>G (p.His2470Arg) n.378-1746A>G c.7481A>G (p.His2494Arg) c.7406A>G (p.His2469Arg) c.7106A>G (p.His2369Arg) c.4370A>G (p.His1457Arg) c.3263A>G (p.His1088Arg) n.1830+5542T>C c.7289A>G (p.His2430Arg) c.3041A>G (p.His1014Arg) c.6269A>G (p.His2090Arg) | |
8 | g.99776936A>T | CA371875881 | VPS13B | c.7484A>T (p.His2495Leu) n.7554A>T c.*3166A>T (n.*3166A>T) c.7409A>T (p.His2470Leu) n.378-1746A>T c.7481A>T (p.His2494Leu) c.7406A>T (p.His2469Leu) c.7106A>T (p.His2369Leu) c.4370A>T (p.His1457Leu) c.3263A>T (p.His1088Leu) n.1830+5542T>A c.7289A>T (p.His2430Leu) c.3041A>T (p.His1014Leu) c.6269A>T (p.His2090Leu) | |
8 | g.99776937C>A | CA371875882 | VPS13B | c.7485C>A (p.His2495Gln) n.7555C>A c.*3167C>A (n.*3167C>A) c.7410C>A (p.His2470Gln) n.378-1745C>A c.7482C>A (p.His2494Gln) c.7407C>A (p.His2469Gln) c.7107C>A (p.His2369Gln) c.4371C>A (p.His1457Gln) c.3264C>A (p.His1088Gln) n.1830+5541G>T c.7290C>A (p.His2430Gln) c.3042C>A (p.His1014Gln) c.6270C>A (p.His2090Gln) | |
8 | g.99776937C>G | CA4824206 | VPS13B | c.7485C>G (p.His2495Gln) n.7555C>G c.*3167C>G (n.*3167C>G) c.7410C>G (p.His2470Gln) n.378-1745C>G c.7482C>G (p.His2494Gln) c.7407C>G (p.His2469Gln) c.7107C>G (p.His2369Gln) c.4371C>G (p.His1457Gln) c.3264C>G (p.His1088Gln) n.1830+5541G>C c.7290C>G (p.His2430Gln) c.3042C>G (p.His1014Gln) c.6270C>G (p.His2090Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776937C>T | CA462449236 | VPS13B | c.7485C>T (p.His2495=) n.7555C>T c.*3167C>T (n.*3167C>T) c.7410C>T (p.His2470=) n.378-1745C>T c.7482C>T (p.His2494=) c.7407C>T (p.His2469=) c.7107C>T (p.His2369=) c.4371C>T (p.His1457=) c.3264C>T (p.His1088=) n.1830+5541G>A c.7290C>T (p.His2430=) c.3042C>T (p.His1014=) c.6270C>T (p.His2090=) | ClinVar gnomAD v4 |
8 | g.99776938C>A | CA371875883 | VPS13B | c.7486C>A (p.Leu2496Ile) n.7556C>A c.*3168C>A (n.*3168C>A) c.7411C>A (p.Leu2471Ile) n.378-1744C>A c.7483C>A (p.Leu2495Ile) c.7408C>A (p.Leu2470Ile) c.7108C>A (p.Leu2370Ile) c.4372C>A (p.Leu1458Ile) c.3265C>A (p.Leu1089Ile) n.1830+5540G>T c.7291C>A (p.Leu2431Ile) c.3043C>A (p.Leu1015Ile) c.6271C>A (p.Leu2091Ile) | COSMIC COSMIC |
8 | g.99776938C>G | CA4824207 | VPS13B | c.7486C>G (p.Leu2496Val) n.7556C>G c.*3168C>G (n.*3168C>G) c.7411C>G (p.Leu2471Val) n.378-1744C>G c.7483C>G (p.Leu2495Val) c.7408C>G (p.Leu2470Val) c.7108C>G (p.Leu2370Val) c.4372C>G (p.Leu1458Val) c.3265C>G (p.Leu1089Val) n.1830+5540G>C c.7291C>G (p.Leu2431Val) c.3043C>G (p.Leu1015Val) c.6271C>G (p.Leu2091Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.99776938C>T | CA371875884 | VPS13B | c.7486C>T (p.Leu2496Phe) n.7556C>T c.*3168C>T (n.*3168C>T) c.7411C>T (p.Leu2471Phe) n.378-1744C>T c.7483C>T (p.Leu2495Phe) c.7408C>T (p.Leu2470Phe) c.7108C>T (p.Leu2370Phe) c.4372C>T (p.Leu1458Phe) c.3265C>T (p.Leu1089Phe) n.1830+5540G>A c.7291C>T (p.Leu2431Phe) c.3043C>T (p.Leu1015Phe) c.6271C>T (p.Leu2091Phe) | |
8 | g.99776939T>A | CA371875885 | VPS13B | c.7487T>A (p.Leu2496His) n.7557T>A c.*3169T>A (n.*3169T>A) c.7412T>A (p.Leu2471His) n.378-1743T>A c.7484T>A (p.Leu2495His) c.7409T>A (p.Leu2470His) c.7109T>A (p.Leu2370His) c.4373T>A (p.Leu1458His) c.3266T>A (p.Leu1089His) n.1830+5539A>T c.7292T>A (p.Leu2431His) c.3044T>A (p.Leu1015His) c.6272T>A (p.Leu2091His) | |
8 | g.99776939T>C | CA371875886 | VPS13B | c.7487T>C (p.Leu2496Pro) n.7557T>C c.*3169T>C (n.*3169T>C) c.7412T>C (p.Leu2471Pro) n.378-1743T>C c.7484T>C (p.Leu2495Pro) c.7409T>C (p.Leu2470Pro) c.7109T>C (p.Leu2370Pro) c.4373T>C (p.Leu1458Pro) c.3266T>C (p.Leu1089Pro) n.1830+5539A>G c.7292T>C (p.Leu2431Pro) c.3044T>C (p.Leu1015Pro) c.6272T>C (p.Leu2091Pro) | gnomAD v4 |
8 | g.99776939T>G | CA371875887 | VPS13B | c.7487T>G (p.Leu2496Arg) n.7557T>G c.*3169T>G (n.*3169T>G) c.7412T>G (p.Leu2471Arg) n.378-1743T>G c.7484T>G (p.Leu2495Arg) c.7409T>G (p.Leu2470Arg) c.7109T>G (p.Leu2370Arg) c.4373T>G (p.Leu1458Arg) c.3266T>G (p.Leu1089Arg) n.1830+5539A>C c.7292T>G (p.Leu2431Arg) c.3044T>G (p.Leu1015Arg) c.6272T>G (p.Leu2091Arg) | |
8 | g.99776940T>A | CA462449237 | VPS13B | c.7488T>A (p.Leu2496=) n.7558T>A c.*3170T>A (n.*3170T>A) c.7413T>A (p.Leu2471=) n.378-1742T>A c.7485T>A (p.Leu2495=) c.7410T>A (p.Leu2470=) c.7110T>A (p.Leu2370=) c.4374T>A (p.Leu1458=) c.3267T>A (p.Leu1089=) n.1830+5538A>T c.7293T>A (p.Leu2431=) c.3045T>A (p.Leu1015=) c.6273T>A (p.Leu2091=) | |
8 | g.99776940T>C | CA462449238 | VPS13B | c.7488T>C (p.Leu2496=) n.7558T>C c.*3170T>C (n.*3170T>C) c.7413T>C (p.Leu2471=) n.378-1742T>C c.7485T>C (p.Leu2495=) c.7410T>C (p.Leu2470=) c.7110T>C (p.Leu2370=) c.4374T>C (p.Leu1458=) c.3267T>C (p.Leu1089=) n.1830+5538A>G c.7293T>C (p.Leu2431=) c.3045T>C (p.Leu1015=) c.6273T>C (p.Leu2091=) | |
8 | g.99776940T>G | CA462449239 | VPS13B | c.7488T>G (p.Leu2496=) n.7558T>G c.*3170T>G (n.*3170T>G) c.7413T>G (p.Leu2471=) n.378-1742T>G c.7485T>G (p.Leu2495=) c.7410T>G (p.Leu2470=) c.7110T>G (p.Leu2370=) c.4374T>G (p.Leu1458=) c.3267T>G (p.Leu1089=) n.1830+5538A>C c.7293T>G (p.Leu2431=) c.3045T>G (p.Leu1015=) c.6273T>G (p.Leu2091=) | |
8 | g.99776941G>A | CA371875888 | VPS13B | c.7489G>A (p.Asp2497Asn) n.7559G>A c.*3171G>A (n.*3171G>A) c.7414G>A (p.Asp2472Asn) n.378-1741G>A c.7486G>A (p.Asp2496Asn) c.7411G>A (p.Asp2471Asn) c.7111G>A (p.Asp2371Asn) c.4375G>A (p.Asp1459Asn) c.3268G>A (p.Asp1090Asn) n.1830+5537C>T c.7294G>A (p.Asp2432Asn) c.3046G>A (p.Asp1016Asn) c.6274G>A (p.Asp2092Asn) | dbSNP gnomAD v4 |
8 | g.99776941G>C | CA371875889 | VPS13B | c.7489G>C (p.Asp2497His) n.7559G>C c.*3171G>C (n.*3171G>C) c.7414G>C (p.Asp2472His) n.378-1741G>C c.7486G>C (p.Asp2496His) c.7411G>C (p.Asp2471His) c.7111G>C (p.Asp2371His) c.4375G>C (p.Asp1459His) c.3268G>C (p.Asp1090His) n.1830+5537C>G c.7294G>C (p.Asp2432His) c.3046G>C (p.Asp1016His) c.6274G>C (p.Asp2092His) | |
8 | g.99776941G>T | CA371875890 | VPS13B | c.7489G>T (p.Asp2497Tyr) n.7559G>T c.*3171G>T (n.*3171G>T) c.7414G>T (p.Asp2472Tyr) n.378-1741G>T c.7486G>T (p.Asp2496Tyr) c.7411G>T (p.Asp2471Tyr) c.7111G>T (p.Asp2371Tyr) c.4375G>T (p.Asp1459Tyr) c.3268G>T (p.Asp1090Tyr) n.1830+5537C>A c.7294G>T (p.Asp2432Tyr) c.3046G>T (p.Asp1016Tyr) c.6274G>T (p.Asp2092Tyr) | gnomAD v4 |
8 | g.99776942A>C | CA371875891 | VPS13B | c.7490A>C (p.Asp2497Ala) n.7560A>C c.*3172A>C (n.*3172A>C) c.7415A>C (p.Asp2472Ala) n.378-1740A>C c.7487A>C (p.Asp2496Ala) c.7412A>C (p.Asp2471Ala) c.7112A>C (p.Asp2371Ala) c.4376A>C (p.Asp1459Ala) c.3269A>C (p.Asp1090Ala) n.1830+5536T>G c.7295A>C (p.Asp2432Ala) c.3047A>C (p.Asp1016Ala) c.6275A>C (p.Asp2092Ala) | |
8 | g.99776942A>G | CA371875892 | VPS13B | c.7490A>G (p.Asp2497Gly) n.7560A>G c.*3172A>G (n.*3172A>G) c.7415A>G (p.Asp2472Gly) n.378-1740A>G c.7487A>G (p.Asp2496Gly) c.7412A>G (p.Asp2471Gly) c.7112A>G (p.Asp2371Gly) c.4376A>G (p.Asp1459Gly) c.3269A>G (p.Asp1090Gly) n.1830+5536T>C c.7295A>G (p.Asp2432Gly) c.3047A>G (p.Asp1016Gly) c.6275A>G (p.Asp2092Gly) | |
8 | g.99776942A>T | CA371875893 | VPS13B | c.7490A>T (p.Asp2497Val) n.7560A>T c.*3172A>T (n.*3172A>T) c.7415A>T (p.Asp2472Val) n.378-1740A>T c.7487A>T (p.Asp2496Val) c.7412A>T (p.Asp2471Val) c.7112A>T (p.Asp2371Val) c.4376A>T (p.Asp1459Val) c.3269A>T (p.Asp1090Val) n.1830+5536T>A c.7295A>T (p.Asp2432Val) c.3047A>T (p.Asp1016Val) c.6275A>T (p.Asp2092Val) | |
8 | g.99776943C>A | CA371875895 | VPS13B | c.7491C>A (p.Asp2497Glu) n.7561C>A c.*3173C>A (n.*3173C>A) c.7416C>A (p.Asp2472Glu) n.378-1739C>A c.7488C>A (p.Asp2496Glu) c.7413C>A (p.Asp2471Glu) c.7113C>A (p.Asp2371Glu) c.4377C>A (p.Asp1459Glu) c.3270C>A (p.Asp1090Glu) n.1830+5535G>T c.7296C>A (p.Asp2432Glu) c.3048C>A (p.Asp1016Glu) c.6276C>A (p.Asp2092Glu) | |
8 | g.99776943C>G | CA371875894 | VPS13B | c.7491C>G (p.Asp2497Glu) n.7561C>G c.*3173C>G (n.*3173C>G) c.7416C>G (p.Asp2472Glu) n.378-1739C>G c.7488C>G (p.Asp2496Glu) c.7413C>G (p.Asp2471Glu) c.7113C>G (p.Asp2371Glu) c.4377C>G (p.Asp1459Glu) c.3270C>G (p.Asp1090Glu) n.1830+5535G>C c.7296C>G (p.Asp2432Glu) c.3048C>G (p.Asp1016Glu) c.6276C>G (p.Asp2092Glu) | |
8 | g.99776943C>T | CA462449240 | VPS13B | c.7491C>T (p.Asp2497=) n.7561C>T c.*3173C>T (n.*3173C>T) c.7416C>T (p.Asp2472=) n.378-1739C>T c.7488C>T (p.Asp2496=) c.7413C>T (p.Asp2471=) c.7113C>T (p.Asp2371=) c.4377C>T (p.Asp1459=) c.3270C>T (p.Asp1090=) n.1830+5535G>A c.7296C>T (p.Asp2432=) c.3048C>T (p.Asp1016=) c.6276C>T (p.Asp2092=) | ClinVar |
8 | g.99776944C>A | CA371875896 | VPS13B | c.7492C>A (p.Gln2498Lys) n.7562C>A c.*3174C>A (n.*3174C>A) c.7417C>A (p.Gln2473Lys) n.378-1738C>A c.7489C>A (p.Gln2497Lys) c.7414C>A (p.Gln2472Lys) c.7114C>A (p.Gln2372Lys) c.4378C>A (p.Gln1460Lys) c.3271C>A (p.Gln1091Lys) n.1830+5534G>T c.7297C>A (p.Gln2433Lys) c.3049C>A (p.Gln1017Lys) c.6277C>A (p.Gln2093Lys) | |
8 | g.99776944C>G | CA371875897 | VPS13B | c.7492C>G (p.Gln2498Glu) n.7562C>G c.*3174C>G (n.*3174C>G) c.7417C>G (p.Gln2473Glu) n.378-1738C>G c.7489C>G (p.Gln2497Glu) c.7414C>G (p.Gln2472Glu) c.7114C>G (p.Gln2372Glu) c.4378C>G (p.Gln1460Glu) c.3271C>G (p.Gln1091Glu) n.1830+5534G>C c.7297C>G (p.Gln2433Glu) c.3049C>G (p.Gln1017Glu) c.6277C>G (p.Gln2093Glu) | gnomAD v4 |
8 | g.99776944C>T | CA371875898 | VPS13B | c.7492C>T (p.Gln2498Ter) n.7562C>T c.*3174C>T (n.*3174C>T) c.7417C>T (p.Gln2473Ter) n.378-1738C>T c.7489C>T (p.Gln2497Ter) c.7414C>T (p.Gln2472Ter) c.7114C>T (p.Gln2372Ter) c.4378C>T (p.Gln1460Ter) c.3271C>T (p.Gln1091Ter) n.1830+5534G>A c.7297C>T (p.Gln2433Ter) c.3049C>T (p.Gln1017Ter) c.6277C>T (p.Gln2093Ter) | |
8 | g.99776945A>C | CA371875899 | VPS13B | c.7493A>C (p.Gln2498Pro) n.7563A>C c.*3175A>C (n.*3175A>C) c.7418A>C (p.Gln2473Pro) n.378-1737A>C c.7490A>C (p.Gln2497Pro) c.7415A>C (p.Gln2472Pro) c.7115A>C (p.Gln2372Pro) c.4379A>C (p.Gln1460Pro) c.3272A>C (p.Gln1091Pro) n.1830+5533T>G c.7298A>C (p.Gln2433Pro) c.3050A>C (p.Gln1017Pro) c.6278A>C (p.Gln2093Pro) | |
8 | g.99776945A>G | CA371875900 | VPS13B | c.7493A>G (p.Gln2498Arg) n.7563A>G c.*3175A>G (n.*3175A>G) c.7418A>G (p.Gln2473Arg) n.378-1737A>G c.7490A>G (p.Gln2497Arg) c.7415A>G (p.Gln2472Arg) c.7115A>G (p.Gln2372Arg) c.4379A>G (p.Gln1460Arg) c.3272A>G (p.Gln1091Arg) n.1830+5533T>C c.7298A>G (p.Gln2433Arg) c.3050A>G (p.Gln1017Arg) c.6278A>G (p.Gln2093Arg) | |
8 | g.99776945A>T | CA371875901 | VPS13B | c.7493A>T (p.Gln2498Leu) n.7563A>T c.*3175A>T (n.*3175A>T) c.7418A>T (p.Gln2473Leu) n.378-1737A>T c.7490A>T (p.Gln2497Leu) c.7415A>T (p.Gln2472Leu) c.7115A>T (p.Gln2372Leu) c.4379A>T (p.Gln1460Leu) c.3272A>T (p.Gln1091Leu) n.1830+5533T>A c.7298A>T (p.Gln2433Leu) c.3050A>T (p.Gln1017Leu) c.6278A>T (p.Gln2093Leu) | |
8 | g.99776946A>C | CA371875903 | VPS13B | c.7494A>C (p.Gln2498His) n.7564A>C c.*3176A>C (n.*3176A>C) c.7419A>C (p.Gln2473His) n.378-1736A>C c.7491A>C (p.Gln2497His) c.7416A>C (p.Gln2472His) c.7116A>C (p.Gln2372His) c.4380A>C (p.Gln1460His) c.3273A>C (p.Gln1091His) n.1830+5532T>G c.7299A>C (p.Gln2433His) c.3051A>C (p.Gln1017His) c.6279A>C (p.Gln2093His) | dbSNP gnomAD v2 |
8 | g.99776946A>G | CA462449241 | VPS13B | c.7494A>G (p.Gln2498=) n.7564A>G c.*3176A>G (n.*3176A>G) c.7419A>G (p.Gln2473=) n.378-1736A>G c.7491A>G (p.Gln2497=) c.7416A>G (p.Gln2472=) c.7116A>G (p.Gln2372=) c.4380A>G (p.Gln1460=) c.3273A>G (p.Gln1091=) n.1830+5532T>C c.7299A>G (p.Gln2433=) c.3051A>G (p.Gln1017=) c.6279A>G (p.Gln2093=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776946A>T | CA371875902 | VPS13B | c.7494A>T (p.Gln2498His) n.7564A>T c.*3176A>T (n.*3176A>T) c.7419A>T (p.Gln2473His) n.378-1736A>T c.7491A>T (p.Gln2497His) c.7416A>T (p.Gln2472His) c.7116A>T (p.Gln2372His) c.4380A>T (p.Gln1460His) c.3273A>T (p.Gln1091His) n.1830+5532T>A c.7299A>T (p.Gln2433His) c.3051A>T (p.Gln1017His) c.6279A>T (p.Gln2093His) | |
8 | g.99776947C>A | CA371875904 | VPS13B | c.7495C>A (p.Leu2499Ile) n.7565C>A c.*3177C>A (n.*3177C>A) c.7420C>A (p.Leu2474Ile) n.378-1735C>A c.7492C>A (p.Leu2498Ile) c.7417C>A (p.Leu2473Ile) c.7117C>A (p.Leu2373Ile) c.4381C>A (p.Leu1461Ile) c.3274C>A (p.Leu1092Ile) n.1830+5531G>T c.7300C>A (p.Leu2434Ile) c.3052C>A (p.Leu1018Ile) c.6280C>A (p.Leu2094Ile) | |
8 | g.99776947C>G | CA371875905 | VPS13B | c.7495C>G (p.Leu2499Val) n.7565C>G c.*3177C>G (n.*3177C>G) c.7420C>G (p.Leu2474Val) n.378-1735C>G c.7492C>G (p.Leu2498Val) c.7417C>G (p.Leu2473Val) c.7117C>G (p.Leu2373Val) c.4381C>G (p.Leu1461Val) c.3274C>G (p.Leu1092Val) n.1830+5531G>C c.7300C>G (p.Leu2434Val) c.3052C>G (p.Leu1018Val) c.6280C>G (p.Leu2094Val) | |
8 | g.99776947C>T | CA4824208 | VPS13B | c.7495C>T (p.Leu2499=) n.7565C>T c.*3177C>T (n.*3177C>T) c.7420C>T (p.Leu2474=) n.378-1735C>T c.7492C>T (p.Leu2498=) c.7417C>T (p.Leu2473=) c.7117C>T (p.Leu2373=) c.4381C>T (p.Leu1461=) c.3274C>T (p.Leu1092=) n.1830+5531G>A c.7300C>T (p.Leu2434=) c.3052C>T (p.Leu1018=) c.6280C>T (p.Leu2094=) | dbSNP ExAC |
8 | g.99776948T>A | CA371875906 | VPS13B | c.7496T>A (p.Leu2499Gln) n.7566T>A c.*3178T>A (n.*3178T>A) c.7421T>A (p.Leu2474Gln) n.378-1734T>A c.7493T>A (p.Leu2498Gln) c.7418T>A (p.Leu2473Gln) c.7118T>A (p.Leu2373Gln) c.4382T>A (p.Leu1461Gln) c.3275T>A (p.Leu1092Gln) n.1830+5530A>T c.7301T>A (p.Leu2434Gln) c.3053T>A (p.Leu1018Gln) c.6281T>A (p.Leu2094Gln) | gnomAD v4 |
8 | g.99776948T>C | CA371875907 | VPS13B | c.7496T>C (p.Leu2499Pro) n.7566T>C c.*3178T>C (n.*3178T>C) c.7421T>C (p.Leu2474Pro) n.378-1734T>C c.7493T>C (p.Leu2498Pro) c.7418T>C (p.Leu2473Pro) c.7118T>C (p.Leu2373Pro) c.4382T>C (p.Leu1461Pro) c.3275T>C (p.Leu1092Pro) n.1830+5530A>G c.7301T>C (p.Leu2434Pro) c.3053T>C (p.Leu1018Pro) c.6281T>C (p.Leu2094Pro) | |
8 | g.99776948T>G | CA371875908 | VPS13B | c.7496T>G (p.Leu2499Arg) n.7566T>G c.*3178T>G (n.*3178T>G) c.7421T>G (p.Leu2474Arg) n.378-1734T>G c.7493T>G (p.Leu2498Arg) c.7418T>G (p.Leu2473Arg) c.7118T>G (p.Leu2373Arg) c.4382T>G (p.Leu1461Arg) c.3275T>G (p.Leu1092Arg) n.1830+5530A>C c.7301T>G (p.Leu2434Arg) c.3053T>G (p.Leu1018Arg) c.6281T>G (p.Leu2094Arg) | |
8 | g.99776949A>C | CA462449242 | VPS13B | c.7497A>C (p.Leu2499=) n.7567A>C c.*3179A>C (n.*3179A>C) c.7422A>C (p.Leu2474=) n.378-1733A>C c.7494A>C (p.Leu2498=) c.7419A>C (p.Leu2473=) c.7119A>C (p.Leu2373=) c.4383A>C (p.Leu1461=) c.3276A>C (p.Leu1092=) n.1830+5529T>G c.7302A>C (p.Leu2434=) c.3054A>C (p.Leu1018=) c.6282A>C (p.Leu2094=) | ClinVar |
8 | g.99776949A>G | CA462449243 | VPS13B | c.7497A>G (p.Leu2499=) n.7567A>G c.*3179A>G (n.*3179A>G) c.7422A>G (p.Leu2474=) n.378-1733A>G c.7494A>G (p.Leu2498=) c.7419A>G (p.Leu2473=) c.7119A>G (p.Leu2373=) c.4383A>G (p.Leu1461=) c.3276A>G (p.Leu1092=) n.1830+5529T>C c.7302A>G (p.Leu2434=) c.3054A>G (p.Leu1018=) c.6282A>G (p.Leu2094=) | |
8 | g.99776949A>T | CA462449244 | VPS13B | c.7497A>T (p.Leu2499=) n.7567A>T c.*3179A>T (n.*3179A>T) c.7422A>T (p.Leu2474=) n.378-1733A>T c.7494A>T (p.Leu2498=) c.7419A>T (p.Leu2473=) c.7119A>T (p.Leu2373=) c.4383A>T (p.Leu1461=) c.3276A>T (p.Leu1092=) n.1830+5529T>A c.7302A>T (p.Leu2434=) c.3054A>T (p.Leu1018=) c.6282A>T (p.Leu2094=) | |
8 | g.99776950G>A | CA371875911 | VPS13B | c.7498G>A (p.Gly2500Ser) n.7568G>A c.*3180G>A (n.*3180G>A) c.7423G>A (p.Gly2475Ser) n.378-1732G>A c.7495G>A (p.Gly2499Ser) c.7420G>A (p.Gly2474Ser) c.7120G>A (p.Gly2374Ser) c.4384G>A (p.Gly1462Ser) c.3277G>A (p.Gly1093Ser) n.1830+5528C>T c.7303G>A (p.Gly2435Ser) c.3055G>A (p.Gly1019Ser) c.6283G>A (p.Gly2095Ser) | |
8 | g.99776950G>C | CA371875909 | VPS13B | c.7498G>C (p.Gly2500Arg) n.7568G>C c.*3180G>C (n.*3180G>C) c.7423G>C (p.Gly2475Arg) n.378-1732G>C c.7495G>C (p.Gly2499Arg) c.7420G>C (p.Gly2474Arg) c.7120G>C (p.Gly2374Arg) c.4384G>C (p.Gly1462Arg) c.3277G>C (p.Gly1093Arg) n.1830+5528C>G c.7303G>C (p.Gly2435Arg) c.3055G>C (p.Gly1019Arg) c.6283G>C (p.Gly2095Arg) | ClinVar |
8 | g.99776950G>T | CA371875910 | VPS13B | c.7498G>T (p.Gly2500Cys) n.7568G>T c.*3180G>T (n.*3180G>T) c.7423G>T (p.Gly2475Cys) n.378-1732G>T c.7495G>T (p.Gly2499Cys) c.7420G>T (p.Gly2474Cys) c.7120G>T (p.Gly2374Cys) c.4384G>T (p.Gly1462Cys) c.3277G>T (p.Gly1093Cys) n.1830+5528C>A c.7303G>T (p.Gly2435Cys) c.3055G>T (p.Gly1019Cys) c.6283G>T (p.Gly2095Cys) | gnomAD v4 |
8 | g.99776951G>A | CA371875912 | VPS13B | c.7499G>A (p.Gly2500Asp) n.7569G>A c.*3181G>A (n.*3181G>A) c.7424G>A (p.Gly2475Asp) n.378-1731G>A c.7496G>A (p.Gly2499Asp) c.7421G>A (p.Gly2474Asp) c.7121G>A (p.Gly2374Asp) c.4385G>A (p.Gly1462Asp) c.3278G>A (p.Gly1093Asp) n.1830+5527C>T c.7304G>A (p.Gly2435Asp) c.3056G>A (p.Gly1019Asp) c.6284G>A (p.Gly2095Asp) | ClinVar dbSNP |
8 | g.99776951G>C | CA371875913 | VPS13B | c.7499G>C (p.Gly2500Ala) n.7569G>C c.*3181G>C (n.*3181G>C) c.7424G>C (p.Gly2475Ala) n.378-1731G>C c.7496G>C (p.Gly2499Ala) c.7421G>C (p.Gly2474Ala) c.7121G>C (p.Gly2374Ala) c.4385G>C (p.Gly1462Ala) c.3278G>C (p.Gly1093Ala) n.1830+5527C>G c.7304G>C (p.Gly2435Ala) c.3056G>C (p.Gly1019Ala) c.6284G>C (p.Gly2095Ala) | |
8 | g.99776951G>T | CA371875914 | VPS13B | c.7499G>T (p.Gly2500Val) n.7569G>T c.*3181G>T (n.*3181G>T) c.7424G>T (p.Gly2475Val) n.378-1731G>T c.7496G>T (p.Gly2499Val) c.7421G>T (p.Gly2474Val) c.7121G>T (p.Gly2374Val) c.4385G>T (p.Gly1462Val) c.3278G>T (p.Gly1093Val) n.1830+5527C>A c.7304G>T (p.Gly2435Val) c.3056G>T (p.Gly1019Val) c.6284G>T (p.Gly2095Val) | gnomAD v4 |
8 | g.99776951_99776952del | CA2781478404 | VPS13B | c.7499_7500del (p.Gly2500AspfsTer19) n.7569_7570del c.*3181_*3182del (n.*3181_*3182del) c.7424_7425del (p.Gly2475AspfsTer19) n.378-1731_378-1730del c.7496_7497del (p.Gly2499AspfsTer19) c.7421_7422del (p.Gly2474AspfsTer19) c.7121_7122del (p.Gly2374AspfsTer19) c.4385_4386del (p.Gly1462AspfsTer19) c.3278_3279del (p.Gly1093AspfsTer19) n.1830+5526_1830+5527del c.7304_7305del (p.Gly2435AspfsTer19) c.3056_3057del (p.Gly1019AspfsTer19) c.6284_6285del (p.Gly2095AspfsTer19) | |
8 | g.99776951_99776952insACTA | CA2781478405 | VPS13B | c.7499_7500insACTA (p.Thr2501LeufsTer20) n.7569_7570insACTA c.*3181_*3182insACTA (n.*3181_*3182insACTA) c.7424_7425insACTA (p.Thr2476LeufsTer20) n.378-1731_378-1730insACTA c.7496_7497insACTA (p.Thr2500LeufsTer20) c.7421_7422insACTA (p.Thr2475LeufsTer20) c.7121_7122insACTA (p.Thr2375LeufsTer20) c.4385_4386insACTA (p.Thr1463LeufsTer20) c.3278_3279insACTA (p.Thr1094LeufsTer20) n.1830+5526_1830+5527insTAGT c.7304_7305insACTA (p.Thr2436LeufsTer20) c.3056_3057insACTA (p.Thr1020LeufsTer20) c.6284_6285insACTA (p.Thr2096LeufsTer20) | |
8 | g.99776952C>A | CA462449246 | VPS13B | c.7500C>A (p.Gly2500=) n.7570C>A c.*3182C>A (n.*3182C>A) c.7425C>A (p.Gly2475=) n.378-1730C>A c.7497C>A (p.Gly2499=) c.7422C>A (p.Gly2474=) c.7122C>A (p.Gly2374=) c.4386C>A (p.Gly1462=) c.3279C>A (p.Gly1093=) n.1830+5526G>T c.7305C>A (p.Gly2435=) c.3057C>A (p.Gly1019=) c.6285C>A (p.Gly2095=) | |
8 | g.99776952C>G | CA462449247 | VPS13B | c.7500C>G (p.Gly2500=) n.7570C>G c.*3182C>G (n.*3182C>G) c.7425C>G (p.Gly2475=) n.378-1730C>G c.7497C>G (p.Gly2499=) c.7422C>G (p.Gly2474=) c.7122C>G (p.Gly2374=) c.4386C>G (p.Gly1462=) c.3279C>G (p.Gly1093=) n.1830+5526G>C c.7305C>G (p.Gly2435=) c.3057C>G (p.Gly1019=) c.6285C>G (p.Gly2095=) | |
8 | g.99776952C>T | CA462449245 | VPS13B | c.7500C>T (p.Gly2500=) n.7570C>T c.*3182C>T (n.*3182C>T) c.7425C>T (p.Gly2475=) n.378-1730C>T c.7497C>T (p.Gly2499=) c.7422C>T (p.Gly2474=) c.7122C>T (p.Gly2374=) c.4386C>T (p.Gly1462=) c.3279C>T (p.Gly1093=) n.1830+5526G>A c.7305C>T (p.Gly2435=) c.3057C>T (p.Gly1019=) c.6285C>T (p.Gly2095=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776953A>C | CA371875915 | VPS13B | c.7501A>C (p.Thr2501Pro) n.7571A>C c.*3183A>C (n.*3183A>C) c.7426A>C (p.Thr2476Pro) n.378-1729A>C c.7498A>C (p.Thr2500Pro) c.7423A>C (p.Thr2475Pro) c.7123A>C (p.Thr2375Pro) c.4387A>C (p.Thr1463Pro) c.3280A>C (p.Thr1094Pro) n.1830+5525T>G c.7306A>C (p.Thr2436Pro) c.3058A>C (p.Thr1020Pro) c.6286A>C (p.Thr2096Pro) | |
8 | g.99776953A>G | CA371875916 | VPS13B | c.7501A>G (p.Thr2501Ala) n.7571A>G c.*3183A>G (n.*3183A>G) c.7426A>G (p.Thr2476Ala) n.378-1729A>G c.7498A>G (p.Thr2500Ala) c.7423A>G (p.Thr2475Ala) c.7123A>G (p.Thr2375Ala) c.4387A>G (p.Thr1463Ala) c.3280A>G (p.Thr1094Ala) n.1830+5525T>C c.7306A>G (p.Thr2436Ala) c.3058A>G (p.Thr1020Ala) c.6286A>G (p.Thr2096Ala) | ClinVar dbSNP |
8 | g.99776953A>T | CA371875917 | VPS13B | c.7501A>T (p.Thr2501Ser) n.7571A>T c.*3183A>T (n.*3183A>T) c.7426A>T (p.Thr2476Ser) n.378-1729A>T c.7498A>T (p.Thr2500Ser) c.7423A>T (p.Thr2475Ser) c.7123A>T (p.Thr2375Ser) c.4387A>T (p.Thr1463Ser) c.3280A>T (p.Thr1094Ser) n.1830+5525T>A c.7306A>T (p.Thr2436Ser) c.3058A>T (p.Thr1020Ser) c.6286A>T (p.Thr2096Ser) | |
8 | g.99776954C>A | CA371875918 | VPS13B | c.7502C>A (p.Thr2501Lys) n.7572C>A c.*3184C>A (n.*3184C>A) c.7427C>A (p.Thr2476Lys) n.378-1728C>A c.7499C>A (p.Thr2500Lys) c.7424C>A (p.Thr2475Lys) c.7124C>A (p.Thr2375Lys) c.4388C>A (p.Thr1463Lys) c.3281C>A (p.Thr1094Lys) n.1830+5524G>T c.7307C>A (p.Thr2436Lys) c.3059C>A (p.Thr1020Lys) c.6287C>A (p.Thr2096Lys) | ClinVar dbSNP |
8 | g.99776954C>G | CA371875919 | VPS13B | c.7502C>G (p.Thr2501Arg) n.7572C>G c.*3184C>G (n.*3184C>G) c.7427C>G (p.Thr2476Arg) n.378-1728C>G c.7499C>G (p.Thr2500Arg) c.7424C>G (p.Thr2475Arg) c.7124C>G (p.Thr2375Arg) c.4388C>G (p.Thr1463Arg) c.3281C>G (p.Thr1094Arg) n.1830+5524G>C c.7307C>G (p.Thr2436Arg) c.3059C>G (p.Thr1020Arg) c.6287C>G (p.Thr2096Arg) | |
8 | g.99776954C>T | CA371875920 | VPS13B | c.7502C>T (p.Thr2501Ile) n.7572C>T c.*3184C>T (n.*3184C>T) c.7427C>T (p.Thr2476Ile) n.378-1728C>T c.7499C>T (p.Thr2500Ile) c.7424C>T (p.Thr2475Ile) c.7124C>T (p.Thr2375Ile) c.4388C>T (p.Thr1463Ile) c.3281C>T (p.Thr1094Ile) n.1830+5524G>A c.7307C>T (p.Thr2436Ile) c.3059C>T (p.Thr1020Ile) c.6287C>T (p.Thr2096Ile) | |
8 | g.99776954_99776956del | CA2781478406 | VPS13B | c.7502_7504del (p.Ala2502del) n.7572_7574del c.*3184_*3186del (n.*3184_*3186del) c.7427_7429del (p.Ala2477del) n.378-1728_378-1726del c.7499_7501del (p.Ala2501del) c.7424_7426del (p.Ala2476del) c.7124_7126del (p.Ala2376del) c.4388_4390del (p.Ala1464del) c.3281_3283del (p.Ala1095del) n.1830+5522_1830+5524del c.7307_7309del (p.Ala2437del) c.3059_3061del (p.Ala1021del) c.6287_6289del (p.Ala2097del) |