Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99861776G>A | CA371790177 | VPS13B | c.*214G>A (n.*214G>A) n.11190G>A c.*6802G>A (n.*6802G>A) c.11045G>A (p.Gly3682Asp) c.11120G>A (p.Gly3707Asp) c.11117G>A (p.Gly3706Asp) c.11042G>A (p.Gly3681Asp) c.10742G>A (p.Gly3581Asp) c.8006G>A (p.Gly2669Asp) c.6899G>A (p.Gly2300Asp) c.10925G>A (p.Gly3642Asp) c.6677G>A (p.Gly2226Asp) c.9905G>A (p.Gly3302Asp) | gnomAD v4 |
8 | g.99861776G>C | CA371790178 | VPS13B | c.*214G>C (n.*214G>C) n.11190G>C c.*6802G>C (n.*6802G>C) c.11045G>C (p.Gly3682Ala) c.11120G>C (p.Gly3707Ala) c.11117G>C (p.Gly3706Ala) c.11042G>C (p.Gly3681Ala) c.10742G>C (p.Gly3581Ala) c.8006G>C (p.Gly2669Ala) c.6899G>C (p.Gly2300Ala) c.10925G>C (p.Gly3642Ala) c.6677G>C (p.Gly2226Ala) c.9905G>C (p.Gly3302Ala) | |
8 | g.99861776G>T | CA182321266 | VPS13B | c.*214G>T (n.*214G>T) n.11190G>T c.*6802G>T (n.*6802G>T) c.11045G>T (p.Gly3682Val) c.11120G>T (p.Gly3707Val) c.11117G>T (p.Gly3706Val) c.11042G>T (p.Gly3681Val) c.10742G>T (p.Gly3581Val) c.8006G>T (p.Gly2669Val) c.6899G>T (p.Gly2300Val) c.10925G>T (p.Gly3642Val) c.6677G>T (p.Gly2226Val) c.9905G>T (p.Gly3302Val) | dbSNP gnomAD v4 |
8 | g.99861776_99861777del | CA4825132 | VPS13B | c.*214_*215del (n.*214_*215del) n.11190_11191del c.*6802_*6803del (n.*6802_*6803del) c.11045_11046del (p.Gly3682AspfsTer23) c.11120_11121del (p.Gly3707AspfsTer23) c.11117_11118del (p.Gly3706AspfsTer23) c.11042_11043del (p.Gly3681AspfsTer23) c.10742_10743del (p.Gly3581AspfsTer23) c.8006_8007del (p.Gly2669AspfsTer23) c.6899_6900del (p.Gly2300AspfsTer23) c.10925_10926del (p.Gly3642AspfsTer23) c.6677_6678del (p.Gly2226AspfsTer23) c.9905_9906del (p.Gly3302AspfsTer23) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861777T>A | CA462338018 | VPS13B | c.*215T>A (n.*215T>A) n.11191T>A c.*6803T>A (n.*6803T>A) c.11046T>A (p.Gly3682=) c.11121T>A (p.Gly3707=) c.11118T>A (p.Gly3706=) c.11043T>A (p.Gly3681=) c.10743T>A (p.Gly3581=) c.8007T>A (p.Gly2669=) c.6900T>A (p.Gly2300=) c.10926T>A (p.Gly3642=) c.6678T>A (p.Gly2226=) c.9906T>A (p.Gly3302=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861777T>C | CA462338019 | VPS13B | c.*215T>C (n.*215T>C) n.11191T>C c.*6803T>C (n.*6803T>C) c.11046T>C (p.Gly3682=) c.11121T>C (p.Gly3707=) c.11118T>C (p.Gly3706=) c.11043T>C (p.Gly3681=) c.10743T>C (p.Gly3581=) c.8007T>C (p.Gly2669=) c.6900T>C (p.Gly2300=) c.10926T>C (p.Gly3642=) c.6678T>C (p.Gly2226=) c.9906T>C (p.Gly3302=) | gnomAD v4 |
8 | g.99861777T>G | CA462338020 | VPS13B | c.*215T>G (n.*215T>G) n.11191T>G c.*6803T>G (n.*6803T>G) c.11046T>G (p.Gly3682=) c.11121T>G (p.Gly3707=) c.11118T>G (p.Gly3706=) c.11043T>G (p.Gly3681=) c.10743T>G (p.Gly3581=) c.8007T>G (p.Gly2669=) c.6900T>G (p.Gly2300=) c.10926T>G (p.Gly3642=) c.6678T>G (p.Gly2226=) c.9906T>G (p.Gly3302=) | |
8 | g.99861778del | CA2573143502 | VPS13B | c.*216del (n.*216del) n.11192del c.*6804del (n.*6804del) c.11047del (p.Thr3683ProfsTer?) c.11122del (p.Thr3708ProfsTer?) c.11119del (p.Thr3707ProfsTer?) c.11044del (p.Thr3682ProfsTer?) c.10744del (p.Thr3582ProfsTer?) c.8008del (p.Thr2670ProfsTer?) c.6901del (p.Thr2301ProfsTer?) c.10927del (p.Thr3643ProfsTer?) c.6679del (p.Thr2227ProfsTer?) c.9907del (p.Thr3303ProfsTer?) | ClinVar dbSNP |
8 | g.99861778A>C | CA371790181 | VPS13B | c.*216A>C (n.*216A>C) n.11192A>C c.*6804A>C (n.*6804A>C) c.11047A>C (p.Thr3683Pro) c.11122A>C (p.Thr3708Pro) c.11119A>C (p.Thr3707Pro) c.11044A>C (p.Thr3682Pro) c.10744A>C (p.Thr3582Pro) c.8008A>C (p.Thr2670Pro) c.6901A>C (p.Thr2301Pro) c.10927A>C (p.Thr3643Pro) c.6679A>C (p.Thr2227Pro) c.9907A>C (p.Thr3303Pro) | dbSNP |
8 | g.99861778A>G | CA371790183 | VPS13B | c.*216A>G (n.*216A>G) n.11192A>G c.*6804A>G (n.*6804A>G) c.11047A>G (p.Thr3683Ala) c.11122A>G (p.Thr3708Ala) c.11119A>G (p.Thr3707Ala) c.11044A>G (p.Thr3682Ala) c.10744A>G (p.Thr3582Ala) c.8008A>G (p.Thr2670Ala) c.6901A>G (p.Thr2301Ala) c.10927A>G (p.Thr3643Ala) c.6679A>G (p.Thr2227Ala) c.9907A>G (p.Thr3303Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861778A>T | CA371790185 | VPS13B | c.*216A>T (n.*216A>T) n.11192A>T c.*6804A>T (n.*6804A>T) c.11047A>T (p.Thr3683Ser) c.11122A>T (p.Thr3708Ser) c.11119A>T (p.Thr3707Ser) c.11044A>T (p.Thr3682Ser) c.10744A>T (p.Thr3582Ser) c.8008A>T (p.Thr2670Ser) c.6901A>T (p.Thr2301Ser) c.10927A>T (p.Thr3643Ser) c.6679A>T (p.Thr2227Ser) c.9907A>T (p.Thr3303Ser) | |
8 | g.99861779C>A | CA371790188 | VPS13B | c.*217C>A (n.*217C>A) n.11193C>A c.*6805C>A (n.*6805C>A) c.11048C>A (p.Thr3683Asn) c.11123C>A (p.Thr3708Asn) c.11120C>A (p.Thr3707Asn) c.11045C>A (p.Thr3682Asn) c.10745C>A (p.Thr3582Asn) c.8009C>A (p.Thr2670Asn) c.6902C>A (p.Thr2301Asn) c.10928C>A (p.Thr3643Asn) c.6680C>A (p.Thr2227Asn) c.9908C>A (p.Thr3303Asn) | dbSNP gnomAD v4 |
8 | g.99861779C>G | CA371790192 | VPS13B | c.*217C>G (n.*217C>G) n.11193C>G c.*6805C>G (n.*6805C>G) c.11048C>G (p.Thr3683Ser) c.11123C>G (p.Thr3708Ser) c.11120C>G (p.Thr3707Ser) c.11045C>G (p.Thr3682Ser) c.10745C>G (p.Thr3582Ser) c.8009C>G (p.Thr2670Ser) c.6902C>G (p.Thr2301Ser) c.10928C>G (p.Thr3643Ser) c.6680C>G (p.Thr2227Ser) c.9908C>G (p.Thr3303Ser) | gnomAD v4 |
8 | g.99861779C>T | CA371790190 | VPS13B | c.*217C>T (n.*217C>T) n.11193C>T c.*6805C>T (n.*6805C>T) c.11048C>T (p.Thr3683Ile) c.11123C>T (p.Thr3708Ile) c.11120C>T (p.Thr3707Ile) c.11045C>T (p.Thr3682Ile) c.10745C>T (p.Thr3582Ile) c.8009C>T (p.Thr2670Ile) c.6902C>T (p.Thr2301Ile) c.10928C>T (p.Thr3643Ile) c.6680C>T (p.Thr2227Ile) c.9908C>T (p.Thr3303Ile) | |
8 | g.99861781del | CA264001 | VPS13B | c.*219del (n.*219del) n.11195del c.*6807del (n.*6807del) c.11050del (p.Leu3684SerfsTer?) c.11125del (p.Leu3709SerfsTer?) c.11122del (p.Leu3708SerfsTer?) c.11047del (p.Leu3683SerfsTer?) c.10747del (p.Leu3583SerfsTer?) c.8011del (p.Leu2671SerfsTer?) c.6904del (p.Leu2302SerfsTer?) c.10930del (p.Leu3644SerfsTer?) c.6682del (p.Leu2228SerfsTer?) c.9910del (p.Leu3304SerfsTer?) | ClinVar dbSNP gnomAD v4 |
8 | g.99861780C>A | CA462338023 | VPS13B | c.*218C>A (n.*218C>A) n.11194C>A c.*6806C>A (n.*6806C>A) c.11049C>A (p.Thr3683=) c.11124C>A (p.Thr3708=) c.11121C>A (p.Thr3707=) c.11046C>A (p.Thr3682=) c.10746C>A (p.Thr3582=) c.8010C>A (p.Thr2670=) c.6903C>A (p.Thr2301=) c.10929C>A (p.Thr3643=) c.6681C>A (p.Thr2227=) c.9909C>A (p.Thr3303=) | gnomAD v4 |
8 | g.99861780C>G | CA462338025 | VPS13B | c.*218C>G (n.*218C>G) n.11194C>G c.*6806C>G (n.*6806C>G) c.11049C>G (p.Thr3683=) c.11124C>G (p.Thr3708=) c.11121C>G (p.Thr3707=) c.11046C>G (p.Thr3682=) c.10746C>G (p.Thr3582=) c.8010C>G (p.Thr2670=) c.6903C>G (p.Thr2301=) c.10929C>G (p.Thr3643=) c.6681C>G (p.Thr2227=) c.9909C>G (p.Thr3303=) | |
8 | g.99861780C>T | CA462338024 | VPS13B | c.*218C>T (n.*218C>T) n.11194C>T c.*6806C>T (n.*6806C>T) c.11049C>T (p.Thr3683=) c.11124C>T (p.Thr3708=) c.11121C>T (p.Thr3707=) c.11046C>T (p.Thr3682=) c.10746C>T (p.Thr3582=) c.8010C>T (p.Thr2670=) c.6903C>T (p.Thr2301=) c.10929C>T (p.Thr3643=) c.6681C>T (p.Thr2227=) c.9909C>T (p.Thr3303=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861781C>A | CA371790193 | VPS13B | c.*219C>A (n.*219C>A) n.11195C>A c.*6807C>A (n.*6807C>A) c.11050C>A (p.Leu3684Ile) c.11125C>A (p.Leu3709Ile) c.11122C>A (p.Leu3708Ile) c.11047C>A (p.Leu3683Ile) c.10747C>A (p.Leu3583Ile) c.8011C>A (p.Leu2671Ile) c.6904C>A (p.Leu2302Ile) c.10930C>A (p.Leu3644Ile) c.6682C>A (p.Leu2228Ile) c.9910C>A (p.Leu3304Ile) | gnomAD v4 |
8 | g.99861781C>G | CA371790194 | VPS13B | c.*219C>G (n.*219C>G) n.11195C>G c.*6807C>G (n.*6807C>G) c.11050C>G (p.Leu3684Val) c.11125C>G (p.Leu3709Val) c.11122C>G (p.Leu3708Val) c.11047C>G (p.Leu3683Val) c.10747C>G (p.Leu3583Val) c.8011C>G (p.Leu2671Val) c.6904C>G (p.Leu2302Val) c.10930C>G (p.Leu3644Val) c.6682C>G (p.Leu2228Val) c.9910C>G (p.Leu3304Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861781C>T | CA371790195 | VPS13B | c.*219C>T (n.*219C>T) n.11195C>T c.*6807C>T (n.*6807C>T) c.11050C>T (p.Leu3684Phe) c.11125C>T (p.Leu3709Phe) c.11122C>T (p.Leu3708Phe) c.11047C>T (p.Leu3683Phe) c.10747C>T (p.Leu3583Phe) c.8011C>T (p.Leu2671Phe) c.6904C>T (p.Leu2302Phe) c.10930C>T (p.Leu3644Phe) c.6682C>T (p.Leu2228Phe) c.9910C>T (p.Leu3304Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861782T>A | CA371790197 | VPS13B | c.*220T>A (n.*220T>A) n.11196T>A c.*6808T>A (n.*6808T>A) c.11051T>A (p.Leu3684His) c.11126T>A (p.Leu3709His) c.11123T>A (p.Leu3708His) c.11048T>A (p.Leu3683His) c.10748T>A (p.Leu3583His) c.8012T>A (p.Leu2671His) c.6905T>A (p.Leu2302His) c.10931T>A (p.Leu3644His) c.6683T>A (p.Leu2228His) c.9911T>A (p.Leu3304His) | |
8 | g.99861782T>C | CA371790198 | VPS13B | c.*220T>C (n.*220T>C) n.11196T>C c.*6808T>C (n.*6808T>C) c.11051T>C (p.Leu3684Pro) c.11126T>C (p.Leu3709Pro) c.11123T>C (p.Leu3708Pro) c.11048T>C (p.Leu3683Pro) c.10748T>C (p.Leu3583Pro) c.8012T>C (p.Leu2671Pro) c.6905T>C (p.Leu2302Pro) c.10931T>C (p.Leu3644Pro) c.6683T>C (p.Leu2228Pro) c.9911T>C (p.Leu3304Pro) | gnomAD v4 |
8 | g.99861782T>G | CA371790200 | VPS13B | c.*220T>G (n.*220T>G) n.11196T>G c.*6808T>G (n.*6808T>G) c.11051T>G (p.Leu3684Arg) c.11126T>G (p.Leu3709Arg) c.11123T>G (p.Leu3708Arg) c.11048T>G (p.Leu3683Arg) c.10748T>G (p.Leu3583Arg) c.8012T>G (p.Leu2671Arg) c.6905T>G (p.Leu2302Arg) c.10931T>G (p.Leu3644Arg) c.6683T>G (p.Leu2228Arg) c.9911T>G (p.Leu3304Arg) | |
8 | g.99861783C>A | CA462338026 | VPS13B | c.*221C>A (n.*221C>A) n.11197C>A c.*6809C>A (n.*6809C>A) c.11052C>A (p.Leu3684=) c.11127C>A (p.Leu3709=) c.11124C>A (p.Leu3708=) c.11049C>A (p.Leu3683=) c.10749C>A (p.Leu3583=) c.8013C>A (p.Leu2671=) c.6906C>A (p.Leu2302=) c.10932C>A (p.Leu3644=) c.6684C>A (p.Leu2228=) c.9912C>A (p.Leu3304=) | gnomAD v4 |
8 | g.99861783C>G | CA4825133 | VPS13B | c.*221C>G (n.*221C>G) n.11197C>G c.*6809C>G (n.*6809C>G) c.11052C>G (p.Leu3684=) c.11127C>G (p.Leu3709=) c.11124C>G (p.Leu3708=) c.11049C>G (p.Leu3683=) c.10749C>G (p.Leu3583=) c.8013C>G (p.Leu2671=) c.6906C>G (p.Leu2302=) c.10932C>G (p.Leu3644=) c.6684C>G (p.Leu2228=) c.9912C>G (p.Leu3304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861783C>T | CA462338027 | VPS13B | c.*221C>T (n.*221C>T) n.11197C>T c.*6809C>T (n.*6809C>T) c.11052C>T (p.Leu3684=) c.11127C>T (p.Leu3709=) c.11124C>T (p.Leu3708=) c.11049C>T (p.Leu3683=) c.10749C>T (p.Leu3583=) c.8013C>T (p.Leu2671=) c.6906C>T (p.Leu2302=) c.10932C>T (p.Leu3644=) c.6684C>T (p.Leu2228=) c.9912C>T (p.Leu3304=) | dbSNP gnomAD v4 |
8 | g.99861784A>C | CA371790204 | VPS13B | c.*222A>C (n.*222A>C) n.11198A>C c.*6810A>C (n.*6810A>C) c.11053A>C (p.Thr3685Pro) c.11128A>C (p.Thr3710Pro) c.11125A>C (p.Thr3709Pro) c.11050A>C (p.Thr3684Pro) c.10750A>C (p.Thr3584Pro) c.8014A>C (p.Thr2672Pro) c.6907A>C (p.Thr2303Pro) c.10933A>C (p.Thr3645Pro) c.6685A>C (p.Thr2229Pro) c.9913A>C (p.Thr3305Pro) | |
8 | g.99861784A>G | CA371790205 | VPS13B | c.*222A>G (n.*222A>G) n.11198A>G c.*6810A>G (n.*6810A>G) c.11053A>G (p.Thr3685Ala) c.11128A>G (p.Thr3710Ala) c.11125A>G (p.Thr3709Ala) c.11050A>G (p.Thr3684Ala) c.10750A>G (p.Thr3584Ala) c.8014A>G (p.Thr2672Ala) c.6907A>G (p.Thr2303Ala) c.10933A>G (p.Thr3645Ala) c.6685A>G (p.Thr2229Ala) c.9913A>G (p.Thr3305Ala) | |
8 | g.99861784A>T | CA371790207 | VPS13B | c.*222A>T (n.*222A>T) n.11198A>T c.*6810A>T (n.*6810A>T) c.11053A>T (p.Thr3685Ser) c.11128A>T (p.Thr3710Ser) c.11125A>T (p.Thr3709Ser) c.11050A>T (p.Thr3684Ser) c.10750A>T (p.Thr3584Ser) c.8014A>T (p.Thr2672Ser) c.6907A>T (p.Thr2303Ser) c.10933A>T (p.Thr3645Ser) c.6685A>T (p.Thr2229Ser) c.9913A>T (p.Thr3305Ser) | |
8 | g.99861785C>A | CA371790211 | VPS13B | c.*223C>A (n.*223C>A) n.11199C>A c.*6811C>A (n.*6811C>A) c.11054C>A (p.Thr3685Lys) c.11129C>A (p.Thr3710Lys) c.11126C>A (p.Thr3709Lys) c.11051C>A (p.Thr3684Lys) c.10751C>A (p.Thr3584Lys) c.8015C>A (p.Thr2672Lys) c.6908C>A (p.Thr2303Lys) c.10934C>A (p.Thr3645Lys) c.6686C>A (p.Thr2229Lys) c.9914C>A (p.Thr3305Lys) | |
8 | g.99861785C>G | CA371790213 | VPS13B | c.*223C>G (n.*223C>G) n.11199C>G c.*6811C>G (n.*6811C>G) c.11054C>G (p.Thr3685Arg) c.11129C>G (p.Thr3710Arg) c.11126C>G (p.Thr3709Arg) c.11051C>G (p.Thr3684Arg) c.10751C>G (p.Thr3584Arg) c.8015C>G (p.Thr2672Arg) c.6908C>G (p.Thr2303Arg) c.10934C>G (p.Thr3645Arg) c.6686C>G (p.Thr2229Arg) c.9914C>G (p.Thr3305Arg) | |
8 | g.99861785C>T | CA371790209 | VPS13B | c.*223C>T (n.*223C>T) n.11199C>T c.*6811C>T (n.*6811C>T) c.11054C>T (p.Thr3685Ile) c.11129C>T (p.Thr3710Ile) c.11126C>T (p.Thr3709Ile) c.11051C>T (p.Thr3684Ile) c.10751C>T (p.Thr3584Ile) c.8015C>T (p.Thr2672Ile) c.6908C>T (p.Thr2303Ile) c.10934C>T (p.Thr3645Ile) c.6686C>T (p.Thr2229Ile) c.9914C>T (p.Thr3305Ile) | gnomAD v4 |
8 | g.99861786A>C | CA462338028 | VPS13B | c.*224A>C (n.*224A>C) n.11200A>C c.*6812A>C (n.*6812A>C) c.11055A>C (p.Thr3685=) c.11130A>C (p.Thr3710=) c.11127A>C (p.Thr3709=) c.11052A>C (p.Thr3684=) c.10752A>C (p.Thr3584=) c.8016A>C (p.Thr2672=) c.6909A>C (p.Thr2303=) c.10935A>C (p.Thr3645=) c.6687A>C (p.Thr2229=) c.9915A>C (p.Thr3305=) | |
8 | g.99861786A>G | CA462338029 | VPS13B | c.*224A>G (n.*224A>G) n.11200A>G c.*6812A>G (n.*6812A>G) c.11055A>G (p.Thr3685=) c.11130A>G (p.Thr3710=) c.11127A>G (p.Thr3709=) c.11052A>G (p.Thr3684=) c.10752A>G (p.Thr3584=) c.8016A>G (p.Thr2672=) c.6909A>G (p.Thr2303=) c.10935A>G (p.Thr3645=) c.6687A>G (p.Thr2229=) c.9915A>G (p.Thr3305=) | ClinVar dbSNP gnomAD v4 |
8 | g.99861786A>T | CA462338030 | VPS13B | c.*224A>T (n.*224A>T) n.11200A>T c.*6812A>T (n.*6812A>T) c.11055A>T (p.Thr3685=) c.11130A>T (p.Thr3710=) c.11127A>T (p.Thr3709=) c.11052A>T (p.Thr3684=) c.10752A>T (p.Thr3584=) c.8016A>T (p.Thr2672=) c.6909A>T (p.Thr2303=) c.10935A>T (p.Thr3645=) c.6687A>T (p.Thr2229=) c.9915A>T (p.Thr3305=) | |
8 | g.99861787T>A | CA371790220 | VPS13B | c.*225T>A (n.*225T>A) n.11201T>A c.*6813T>A (n.*6813T>A) c.11056T>A (p.Ser3686Thr) c.11131T>A (p.Ser3711Thr) c.11128T>A (p.Ser3710Thr) c.11053T>A (p.Ser3685Thr) c.10753T>A (p.Ser3585Thr) c.8017T>A (p.Ser2673Thr) c.6910T>A (p.Ser2304Thr) c.10936T>A (p.Ser3646Thr) c.6688T>A (p.Ser2230Thr) c.9916T>A (p.Ser3306Thr) | |
8 | g.99861787T>C | CA371790217 | VPS13B | c.*225T>C (n.*225T>C) n.11201T>C c.*6813T>C (n.*6813T>C) c.11056T>C (p.Ser3686Pro) c.11131T>C (p.Ser3711Pro) c.11128T>C (p.Ser3710Pro) c.11053T>C (p.Ser3685Pro) c.10753T>C (p.Ser3585Pro) c.8017T>C (p.Ser2673Pro) c.6910T>C (p.Ser2304Pro) c.10936T>C (p.Ser3646Pro) c.6688T>C (p.Ser2230Pro) c.9916T>C (p.Ser3306Pro) | |
8 | g.99861787T>G | CA371790219 | VPS13B | c.*225T>G (n.*225T>G) n.11201T>G c.*6813T>G (n.*6813T>G) c.11056T>G (p.Ser3686Ala) c.11131T>G (p.Ser3711Ala) c.11128T>G (p.Ser3710Ala) c.11053T>G (p.Ser3685Ala) c.10753T>G (p.Ser3585Ala) c.8017T>G (p.Ser2673Ala) c.6910T>G (p.Ser2304Ala) c.10936T>G (p.Ser3646Ala) c.6688T>G (p.Ser2230Ala) c.9916T>G (p.Ser3306Ala) | |
8 | g.99861788C>A | CA371790221 | VPS13B | c.*226C>A (n.*226C>A) n.11202C>A c.*6814C>A (n.*6814C>A) c.11057C>A (p.Ser3686Tyr) c.11132C>A (p.Ser3711Tyr) c.11129C>A (p.Ser3710Tyr) c.11054C>A (p.Ser3685Tyr) c.10754C>A (p.Ser3585Tyr) c.8018C>A (p.Ser2673Tyr) c.6911C>A (p.Ser2304Tyr) c.10937C>A (p.Ser3646Tyr) c.6689C>A (p.Ser2230Tyr) c.9917C>A (p.Ser3306Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861788C>G | CA371790222 | VPS13B | c.*226C>G (n.*226C>G) n.11202C>G c.*6814C>G (n.*6814C>G) c.11057C>G (p.Ser3686Cys) c.11132C>G (p.Ser3711Cys) c.11129C>G (p.Ser3710Cys) c.11054C>G (p.Ser3685Cys) c.10754C>G (p.Ser3585Cys) c.8018C>G (p.Ser2673Cys) c.6911C>G (p.Ser2304Cys) c.10937C>G (p.Ser3646Cys) c.6689C>G (p.Ser2230Cys) c.9917C>G (p.Ser3306Cys) | |
8 | g.99861788C>T | CA371790223 | VPS13B | c.*226C>T (n.*226C>T) n.11202C>T c.*6814C>T (n.*6814C>T) c.11057C>T (p.Ser3686Phe) c.11132C>T (p.Ser3711Phe) c.11129C>T (p.Ser3710Phe) c.11054C>T (p.Ser3685Phe) c.10754C>T (p.Ser3585Phe) c.8018C>T (p.Ser2673Phe) c.6911C>T (p.Ser2304Phe) c.10937C>T (p.Ser3646Phe) c.6689C>T (p.Ser2230Phe) c.9917C>T (p.Ser3306Phe) | gnomAD v4 |
8 | g.99861789C>A | CA462338031 | VPS13B | c.*227C>A (n.*227C>A) n.11203C>A c.*6815C>A (n.*6815C>A) c.11058C>A (p.Ser3686=) c.11133C>A (p.Ser3711=) c.11130C>A (p.Ser3710=) c.11055C>A (p.Ser3685=) c.10755C>A (p.Ser3585=) c.8019C>A (p.Ser2673=) c.6912C>A (p.Ser2304=) c.10938C>A (p.Ser3646=) c.6690C>A (p.Ser2230=) c.9918C>A (p.Ser3306=) | gnomAD v4 |
8 | g.99861789C>G | CA462338032 | VPS13B | c.*227C>G (n.*227C>G) n.11203C>G c.*6815C>G (n.*6815C>G) c.11058C>G (p.Ser3686=) c.11133C>G (p.Ser3711=) c.11130C>G (p.Ser3710=) c.11055C>G (p.Ser3685=) c.10755C>G (p.Ser3585=) c.8019C>G (p.Ser2673=) c.6912C>G (p.Ser2304=) c.10938C>G (p.Ser3646=) c.6690C>G (p.Ser2230=) c.9918C>G (p.Ser3306=) | |
8 | g.99861789C>T | CA462338033 | VPS13B | c.*227C>T (n.*227C>T) n.11203C>T c.*6815C>T (n.*6815C>T) c.11058C>T (p.Ser3686=) c.11133C>T (p.Ser3711=) c.11130C>T (p.Ser3710=) c.11055C>T (p.Ser3685=) c.10755C>T (p.Ser3585=) c.8019C>T (p.Ser2673=) c.6912C>T (p.Ser2304=) c.10938C>T (p.Ser3646=) c.6690C>T (p.Ser2230=) c.9918C>T (p.Ser3306=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861790A>C | CA371790226 | VPS13B | c.*228A>C (n.*228A>C) n.11204A>C c.*6816A>C (n.*6816A>C) c.11059A>C (p.Ile3687Leu) c.11134A>C (p.Ile3712Leu) c.11131A>C (p.Ile3711Leu) c.11056A>C (p.Ile3686Leu) c.10756A>C (p.Ile3586Leu) c.8020A>C (p.Ile2674Leu) c.6913A>C (p.Ile2305Leu) c.10939A>C (p.Ile3647Leu) c.6691A>C (p.Ile2231Leu) c.9919A>C (p.Ile3307Leu) | |
8 | g.99861790A>G | CA182321295 | VPS13B | c.*228A>G (n.*228A>G) n.11204A>G c.*6816A>G (n.*6816A>G) c.11059A>G (p.Ile3687Val) c.11134A>G (p.Ile3712Val) c.11131A>G (p.Ile3711Val) c.11056A>G (p.Ile3686Val) c.10756A>G (p.Ile3586Val) c.8020A>G (p.Ile2674Val) c.6913A>G (p.Ile2305Val) c.10939A>G (p.Ile3647Val) c.6691A>G (p.Ile2231Val) c.9919A>G (p.Ile3307Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861790A>T | CA371790227 | VPS13B | c.*228A>T (n.*228A>T) n.11204A>T c.*6816A>T (n.*6816A>T) c.11059A>T (p.Ile3687Phe) c.11134A>T (p.Ile3712Phe) c.11131A>T (p.Ile3711Phe) c.11056A>T (p.Ile3686Phe) c.10756A>T (p.Ile3586Phe) c.8020A>T (p.Ile2674Phe) c.6913A>T (p.Ile2305Phe) c.10939A>T (p.Ile3647Phe) c.6691A>T (p.Ile2231Phe) c.9919A>T (p.Ile3307Phe) | |
8 | g.99861791T>A | CA371790229 | VPS13B | c.*229T>A (n.*229T>A) n.11205T>A c.*6817T>A (n.*6817T>A) c.11060T>A (p.Ile3687Asn) c.11135T>A (p.Ile3712Asn) c.11132T>A (p.Ile3711Asn) c.11057T>A (p.Ile3686Asn) c.10757T>A (p.Ile3586Asn) c.8021T>A (p.Ile2674Asn) c.6914T>A (p.Ile2305Asn) c.10940T>A (p.Ile3647Asn) c.6692T>A (p.Ile2231Asn) c.9920T>A (p.Ile3307Asn) | |
8 | g.99861791T>C | CA371790232 | VPS13B | c.*229T>C (n.*229T>C) n.11205T>C c.*6817T>C (n.*6817T>C) c.11060T>C (p.Ile3687Thr) c.11135T>C (p.Ile3712Thr) c.11132T>C (p.Ile3711Thr) c.11057T>C (p.Ile3686Thr) c.10757T>C (p.Ile3586Thr) c.8021T>C (p.Ile2674Thr) c.6914T>C (p.Ile2305Thr) c.10940T>C (p.Ile3647Thr) c.6692T>C (p.Ile2231Thr) c.9920T>C (p.Ile3307Thr) | gnomAD v4 |
8 | g.99861791T>G | CA371790234 | VPS13B | c.*229T>G (n.*229T>G) n.11205T>G c.*6817T>G (n.*6817T>G) c.11060T>G (p.Ile3687Ser) c.11135T>G (p.Ile3712Ser) c.11132T>G (p.Ile3711Ser) c.11057T>G (p.Ile3686Ser) c.10757T>G (p.Ile3586Ser) c.8021T>G (p.Ile2674Ser) c.6914T>G (p.Ile2305Ser) c.10940T>G (p.Ile3647Ser) c.6692T>G (p.Ile2231Ser) c.9920T>G (p.Ile3307Ser) | |
8 | g.99861792C>A | CA462338035 | VPS13B | c.*230C>A (n.*230C>A) n.11206C>A c.*6818C>A (n.*6818C>A) c.11061C>A (p.Ile3687=) c.11136C>A (p.Ile3712=) c.11133C>A (p.Ile3711=) c.11058C>A (p.Ile3686=) c.10758C>A (p.Ile3586=) c.8022C>A (p.Ile2674=) c.6915C>A (p.Ile2305=) c.10941C>A (p.Ile3647=) c.6693C>A (p.Ile2231=) c.9921C>A (p.Ile3307=) | gnomAD v4 |
8 | g.99861792C>G | CA371790236 | VPS13B | c.*230C>G (n.*230C>G) n.11206C>G c.*6818C>G (n.*6818C>G) c.11061C>G (p.Ile3687Met) c.11136C>G (p.Ile3712Met) c.11133C>G (p.Ile3711Met) c.11058C>G (p.Ile3686Met) c.10758C>G (p.Ile3586Met) c.8022C>G (p.Ile2674Met) c.6915C>G (p.Ile2305Met) c.10941C>G (p.Ile3647Met) c.6693C>G (p.Ile2231Met) c.9921C>G (p.Ile3307Met) | |
8 | g.99861792C>T | CA462338036 | VPS13B | c.*230C>T (n.*230C>T) n.11206C>T c.*6818C>T (n.*6818C>T) c.11061C>T (p.Ile3687=) c.11136C>T (p.Ile3712=) c.11133C>T (p.Ile3711=) c.11058C>T (p.Ile3686=) c.10758C>T (p.Ile3586=) c.8022C>T (p.Ile2674=) c.6915C>T (p.Ile2305=) c.10941C>T (p.Ile3647=) c.6693C>T (p.Ile2231=) c.9921C>T (p.Ile3307=) | ClinVar dbSNP |
8 | g.99861793A>C | CA371790242 | VPS13B | c.*231A>C (n.*231A>C) n.11207A>C c.*6819A>C (n.*6819A>C) c.11062A>C (p.Thr3688Pro) c.11137A>C (p.Thr3713Pro) c.11134A>C (p.Thr3712Pro) c.11059A>C (p.Thr3687Pro) c.10759A>C (p.Thr3587Pro) c.8023A>C (p.Thr2675Pro) c.6916A>C (p.Thr2306Pro) c.10942A>C (p.Thr3648Pro) c.6694A>C (p.Thr2232Pro) c.9922A>C (p.Thr3308Pro) | dbSNP |
8 | g.99861793A>G | CA371790238 | VPS13B | c.*231A>G (n.*231A>G) n.11207A>G c.*6819A>G (n.*6819A>G) c.11062A>G (p.Thr3688Ala) c.11137A>G (p.Thr3713Ala) c.11134A>G (p.Thr3712Ala) c.11059A>G (p.Thr3687Ala) c.10759A>G (p.Thr3587Ala) c.8023A>G (p.Thr2675Ala) c.6916A>G (p.Thr2306Ala) c.10942A>G (p.Thr3648Ala) c.6694A>G (p.Thr2232Ala) c.9922A>G (p.Thr3308Ala) | |
8 | g.99861793A>T | CA371790240 | VPS13B | c.*231A>T (n.*231A>T) n.11207A>T c.*6819A>T (n.*6819A>T) c.11062A>T (p.Thr3688Ser) c.11137A>T (p.Thr3713Ser) c.11134A>T (p.Thr3712Ser) c.11059A>T (p.Thr3687Ser) c.10759A>T (p.Thr3587Ser) c.8023A>T (p.Thr2675Ser) c.6916A>T (p.Thr2306Ser) c.10942A>T (p.Thr3648Ser) c.6694A>T (p.Thr2232Ser) c.9922A>T (p.Thr3308Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.99861794C>A | CA371790244 | VPS13B | c.*232C>A (n.*232C>A) n.11208C>A c.*6820C>A (n.*6820C>A) c.11063C>A (p.Thr3688Asn) c.11138C>A (p.Thr3713Asn) c.11135C>A (p.Thr3712Asn) c.11060C>A (p.Thr3687Asn) c.10760C>A (p.Thr3587Asn) c.8024C>A (p.Thr2675Asn) c.6917C>A (p.Thr2306Asn) c.10943C>A (p.Thr3648Asn) c.6695C>A (p.Thr2232Asn) c.9923C>A (p.Thr3308Asn) | |
8 | g.99861794C>G | CA371790246 | VPS13B | c.*232C>G (n.*232C>G) n.11208C>G c.*6820C>G (n.*6820C>G) c.11063C>G (p.Thr3688Ser) c.11138C>G (p.Thr3713Ser) c.11135C>G (p.Thr3712Ser) c.11060C>G (p.Thr3687Ser) c.10760C>G (p.Thr3587Ser) c.8024C>G (p.Thr2675Ser) c.6917C>G (p.Thr2306Ser) c.10943C>G (p.Thr3648Ser) c.6695C>G (p.Thr2232Ser) c.9923C>G (p.Thr3308Ser) | |
8 | g.99861794C>T | CA371790247 | VPS13B | c.*232C>T (n.*232C>T) n.11208C>T c.*6820C>T (n.*6820C>T) c.11063C>T (p.Thr3688Ile) c.11138C>T (p.Thr3713Ile) c.11135C>T (p.Thr3712Ile) c.11060C>T (p.Thr3687Ile) c.10760C>T (p.Thr3587Ile) c.8024C>T (p.Thr2675Ile) c.6917C>T (p.Thr2306Ile) c.10943C>T (p.Thr3648Ile) c.6695C>T (p.Thr2232Ile) c.9923C>T (p.Thr3308Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861795C>A | CA462338037 | VPS13B | c.*233C>A (n.*233C>A) n.11209C>A c.*6821C>A (n.*6821C>A) c.11064C>A (p.Thr3688=) c.11139C>A (p.Thr3713=) c.11136C>A (p.Thr3712=) c.11061C>A (p.Thr3687=) c.10761C>A (p.Thr3587=) c.8025C>A (p.Thr2675=) c.6918C>A (p.Thr2306=) c.10944C>A (p.Thr3648=) c.6696C>A (p.Thr2232=) c.9924C>A (p.Thr3308=) | gnomAD v4 |
8 | g.99861795C>G | CA462338038 | VPS13B | c.*233C>G (n.*233C>G) n.11209C>G c.*6821C>G (n.*6821C>G) c.11064C>G (p.Thr3688=) c.11139C>G (p.Thr3713=) c.11136C>G (p.Thr3712=) c.11061C>G (p.Thr3687=) c.10761C>G (p.Thr3587=) c.8025C>G (p.Thr2675=) c.6918C>G (p.Thr2306=) c.10944C>G (p.Thr3648=) c.6696C>G (p.Thr2232=) c.9924C>G (p.Thr3308=) | |
8 | g.99861795C>T | CA4825134 | VPS13B | c.*233C>T (n.*233C>T) n.11209C>T c.*6821C>T (n.*6821C>T) c.11064C>T (p.Thr3688=) c.11139C>T (p.Thr3713=) c.11136C>T (p.Thr3712=) c.11061C>T (p.Thr3687=) c.10761C>T (p.Thr3587=) c.8025C>T (p.Thr2675=) c.6918C>T (p.Thr2306=) c.10944C>T (p.Thr3648=) c.6696C>T (p.Thr2232=) c.9924C>T (p.Thr3308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861796A>C | CA371790251 | VPS13B | c.*234A>C (n.*234A>C) n.11210A>C c.*6822A>C (n.*6822A>C) c.11065A>C (p.Asn3689His) c.11140A>C (p.Asn3714His) c.11137A>C (p.Asn3713His) c.11062A>C (p.Asn3688His) c.10762A>C (p.Asn3588His) c.8026A>C (p.Asn2676His) c.6919A>C (p.Asn2307His) c.10945A>C (p.Asn3649His) c.6697A>C (p.Asn2233His) c.9925A>C (p.Asn3309His) | |
8 | g.99861796A>G | CA371790252 | VPS13B | c.*234A>G (n.*234A>G) n.11210A>G c.*6822A>G (n.*6822A>G) c.11065A>G (p.Asn3689Asp) c.11140A>G (p.Asn3714Asp) c.11137A>G (p.Asn3713Asp) c.11062A>G (p.Asn3688Asp) c.10762A>G (p.Asn3588Asp) c.8026A>G (p.Asn2676Asp) c.6919A>G (p.Asn2307Asp) c.10945A>G (p.Asn3649Asp) c.6697A>G (p.Asn2233Asp) c.9925A>G (p.Asn3309Asp) | |
8 | g.99861796A>T | CA371790254 | VPS13B | c.*234A>T (n.*234A>T) n.11210A>T c.*6822A>T (n.*6822A>T) c.11065A>T (p.Asn3689Tyr) c.11140A>T (p.Asn3714Tyr) c.11137A>T (p.Asn3713Tyr) c.11062A>T (p.Asn3688Tyr) c.10762A>T (p.Asn3588Tyr) c.8026A>T (p.Asn2676Tyr) c.6919A>T (p.Asn2307Tyr) c.10945A>T (p.Asn3649Tyr) c.6697A>T (p.Asn2233Tyr) c.9925A>T (p.Asn3309Tyr) | |
8 | g.99861797A>C | CA371790256 | VPS13B | c.*235A>C (n.*235A>C) n.11211A>C c.*6823A>C (n.*6823A>C) c.11066A>C (p.Asn3689Thr) c.11141A>C (p.Asn3714Thr) c.11138A>C (p.Asn3713Thr) c.11063A>C (p.Asn3688Thr) c.10763A>C (p.Asn3588Thr) c.8027A>C (p.Asn2676Thr) c.6920A>C (p.Asn2307Thr) c.10946A>C (p.Asn3649Thr) c.6698A>C (p.Asn2233Thr) c.9926A>C (p.Asn3309Thr) | |
8 | g.99861797A>G | CA371790258 | VPS13B | c.*235A>G (n.*235A>G) n.11211A>G c.*6823A>G (n.*6823A>G) c.11066A>G (p.Asn3689Ser) c.11141A>G (p.Asn3714Ser) c.11138A>G (p.Asn3713Ser) c.11063A>G (p.Asn3688Ser) c.10763A>G (p.Asn3588Ser) c.8027A>G (p.Asn2676Ser) c.6920A>G (p.Asn2307Ser) c.10946A>G (p.Asn3649Ser) c.6698A>G (p.Asn2233Ser) c.9926A>G (p.Asn3309Ser) | |
8 | g.99861797A>T | CA371790260 | VPS13B | c.*235A>T (n.*235A>T) n.11211A>T c.*6823A>T (n.*6823A>T) c.11066A>T (p.Asn3689Ile) c.11141A>T (p.Asn3714Ile) c.11138A>T (p.Asn3713Ile) c.11063A>T (p.Asn3688Ile) c.10763A>T (p.Asn3588Ile) c.8027A>T (p.Asn2676Ile) c.6920A>T (p.Asn2307Ile) c.10946A>T (p.Asn3649Ile) c.6698A>T (p.Asn2233Ile) c.9926A>T (p.Asn3309Ile) | |
8 | g.99861798C>A | CA371790262 | VPS13B | c.*236C>A (n.*236C>A) n.11212C>A c.*6824C>A (n.*6824C>A) c.11067C>A (p.Asn3689Lys) c.11142C>A (p.Asn3714Lys) c.11139C>A (p.Asn3713Lys) c.11064C>A (p.Asn3688Lys) c.10764C>A (p.Asn3588Lys) c.8028C>A (p.Asn2676Lys) c.6921C>A (p.Asn2307Lys) c.10947C>A (p.Asn3649Lys) c.6699C>A (p.Asn2233Lys) c.9927C>A (p.Asn3309Lys) | |
8 | g.99861798C>G | CA371790264 | VPS13B | c.*236C>G (n.*236C>G) n.11212C>G c.*6824C>G (n.*6824C>G) c.11067C>G (p.Asn3689Lys) c.11142C>G (p.Asn3714Lys) c.11139C>G (p.Asn3713Lys) c.11064C>G (p.Asn3688Lys) c.10764C>G (p.Asn3588Lys) c.8028C>G (p.Asn2676Lys) c.6921C>G (p.Asn2307Lys) c.10947C>G (p.Asn3649Lys) c.6699C>G (p.Asn2233Lys) c.9927C>G (p.Asn3309Lys) | |
8 | g.99861798C>T | CA462338039 | VPS13B | c.*236C>T (n.*236C>T) n.11212C>T c.*6824C>T (n.*6824C>T) c.11067C>T (p.Asn3689=) c.11142C>T (p.Asn3714=) c.11139C>T (p.Asn3713=) c.11064C>T (p.Asn3688=) c.10764C>T (p.Asn3588=) c.8028C>T (p.Asn2676=) c.6921C>T (p.Asn2307=) c.10947C>T (p.Asn3649=) c.6699C>T (p.Asn2233=) c.9927C>T (p.Asn3309=) | |
8 | g.99861799C>A | CA4825135 | VPS13B | c.*237C>A (n.*237C>A) n.11213C>A c.*6825C>A (n.*6825C>A) c.11068C>A (p.Leu3690Ile) c.11143C>A (p.Leu3715Ile) c.11140C>A (p.Leu3714Ile) c.11065C>A (p.Leu3689Ile) c.10765C>A (p.Leu3589Ile) c.8029C>A (p.Leu2677Ile) c.6922C>A (p.Leu2308Ile) c.10948C>A (p.Leu3650Ile) c.6700C>A (p.Leu2234Ile) c.9928C>A (p.Leu3310Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861799C>G | CA371790269 | VPS13B | c.*237C>G (n.*237C>G) n.11213C>G c.*6825C>G (n.*6825C>G) c.11068C>G (p.Leu3690Val) c.11143C>G (p.Leu3715Val) c.11140C>G (p.Leu3714Val) c.11065C>G (p.Leu3689Val) c.10765C>G (p.Leu3589Val) c.8029C>G (p.Leu2677Val) c.6922C>G (p.Leu2308Val) c.10948C>G (p.Leu3650Val) c.6700C>G (p.Leu2234Val) c.9928C>G (p.Leu3310Val) | |
8 | g.99861799C>T | CA371790266 | VPS13B | c.*237C>T (n.*237C>T) n.11213C>T c.*6825C>T (n.*6825C>T) c.11068C>T (p.Leu3690Phe) c.11143C>T (p.Leu3715Phe) c.11140C>T (p.Leu3714Phe) c.11065C>T (p.Leu3689Phe) c.10765C>T (p.Leu3589Phe) c.8029C>T (p.Leu2677Phe) c.6922C>T (p.Leu2308Phe) c.10948C>T (p.Leu3650Phe) c.6700C>T (p.Leu2234Phe) c.9928C>T (p.Leu3310Phe) | |
8 | g.99861800T>A | CA371790271 | VPS13B | c.*238T>A (n.*238T>A) n.11214T>A c.*6826T>A (n.*6826T>A) c.11069T>A (p.Leu3690His) c.11144T>A (p.Leu3715His) c.11141T>A (p.Leu3714His) c.11066T>A (p.Leu3689His) c.10766T>A (p.Leu3589His) c.8030T>A (p.Leu2677His) c.6923T>A (p.Leu2308His) c.10949T>A (p.Leu3650His) c.6701T>A (p.Leu2234His) c.9929T>A (p.Leu3310His) | |
8 | g.99861800T>C | CA371790272 | VPS13B | c.*238T>C (n.*238T>C) n.11214T>C c.*6826T>C (n.*6826T>C) c.11069T>C (p.Leu3690Pro) c.11144T>C (p.Leu3715Pro) c.11141T>C (p.Leu3714Pro) c.11066T>C (p.Leu3689Pro) c.10766T>C (p.Leu3589Pro) c.8030T>C (p.Leu2677Pro) c.6923T>C (p.Leu2308Pro) c.10949T>C (p.Leu3650Pro) c.6701T>C (p.Leu2234Pro) c.9929T>C (p.Leu3310Pro) | |
8 | g.99861800T>G | CA371790275 | VPS13B | c.*238T>G (n.*238T>G) n.11214T>G c.*6826T>G (n.*6826T>G) c.11069T>G (p.Leu3690Arg) c.11144T>G (p.Leu3715Arg) c.11141T>G (p.Leu3714Arg) c.11066T>G (p.Leu3689Arg) c.10766T>G (p.Leu3589Arg) c.8030T>G (p.Leu2677Arg) c.6923T>G (p.Leu2308Arg) c.10949T>G (p.Leu3650Arg) c.6701T>G (p.Leu2234Arg) c.9929T>G (p.Leu3310Arg) | |
8 | g.99861801C>A | CA462338040 | VPS13B | c.*239C>A (n.*239C>A) n.11215C>A c.*6827C>A (n.*6827C>A) c.11070C>A (p.Leu3690=) c.11145C>A (p.Leu3715=) c.11142C>A (p.Leu3714=) c.11067C>A (p.Leu3689=) c.10767C>A (p.Leu3589=) c.8031C>A (p.Leu2677=) c.6924C>A (p.Leu2308=) c.10950C>A (p.Leu3650=) c.6702C>A (p.Leu2234=) c.9930C>A (p.Leu3310=) | |
8 | g.99861801C>G | CA462338041 | VPS13B | c.*239C>G (n.*239C>G) n.11215C>G c.*6827C>G (n.*6827C>G) c.11070C>G (p.Leu3690=) c.11145C>G (p.Leu3715=) c.11142C>G (p.Leu3714=) c.11067C>G (p.Leu3689=) c.10767C>G (p.Leu3589=) c.8031C>G (p.Leu2677=) c.6924C>G (p.Leu2308=) c.10950C>G (p.Leu3650=) c.6702C>G (p.Leu2234=) c.9930C>G (p.Leu3310=) | ClinVar dbSNP |
8 | g.99861801C>T | CA4825136 | VPS13B | c.*239C>T (n.*239C>T) n.11215C>T c.*6827C>T (n.*6827C>T) c.11070C>T (p.Leu3690=) c.11145C>T (p.Leu3715=) c.11142C>T (p.Leu3714=) c.11067C>T (p.Leu3689=) c.10767C>T (p.Leu3589=) c.8031C>T (p.Leu2677=) c.6924C>T (p.Leu2308=) c.10950C>T (p.Leu3650=) c.6702C>T (p.Leu2234=) c.9930C>T (p.Leu3310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861802G>A | CA148910 | VPS13B | c.*240G>A (n.*240G>A) n.11216G>A c.*6828G>A (n.*6828G>A) c.11071G>A (p.Ala3691Thr) c.11146G>A (p.Ala3716Thr) c.11143G>A (p.Ala3715Thr) c.11068G>A (p.Ala3690Thr) c.10768G>A (p.Ala3590Thr) c.8032G>A (p.Ala2678Thr) c.6925G>A (p.Ala2309Thr) c.10951G>A (p.Ala3651Thr) c.6703G>A (p.Ala2235Thr) c.9931G>A (p.Ala3311Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861802G>C | CA371790281 | VPS13B | c.*240G>C (n.*240G>C) n.11216G>C c.*6828G>C (n.*6828G>C) c.11071G>C (p.Ala3691Pro) c.11146G>C (p.Ala3716Pro) c.11143G>C (p.Ala3715Pro) c.11068G>C (p.Ala3690Pro) c.10768G>C (p.Ala3590Pro) c.8032G>C (p.Ala2678Pro) c.6925G>C (p.Ala2309Pro) c.10951G>C (p.Ala3651Pro) c.6703G>C (p.Ala2235Pro) c.9931G>C (p.Ala3311Pro) | |
8 | g.99861802G= | CA2838140036 | VPS13B | c.*240G= (n.*240G=) n.11216G= c.*6828G= (n.*6828G=) c.11071G= (p.Ala3691=) c.11146G= (p.Ala3716=) c.11143G= (p.Ala3715=) c.11068G= (p.Ala3690=) c.10768G= (p.Ala3590=) c.8032G= (p.Ala2678=) c.6925G= (p.Ala2309=) c.10951G= (p.Ala3651=) c.6703G= (p.Ala2235=) c.9931G= (p.Ala3311=) | |
8 | g.99861802G>T | CA371790283 | VPS13B | c.*240G>T (n.*240G>T) n.11216G>T c.*6828G>T (n.*6828G>T) c.11071G>T (p.Ala3691Ser) c.11146G>T (p.Ala3716Ser) c.11143G>T (p.Ala3715Ser) c.11068G>T (p.Ala3690Ser) c.10768G>T (p.Ala3590Ser) c.8032G>T (p.Ala2678Ser) c.6925G>T (p.Ala2309Ser) c.10951G>T (p.Ala3651Ser) c.6703G>T (p.Ala2235Ser) c.9931G>T (p.Ala3311Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861803C>A | CA371790286 | VPS13B | c.*241C>A (n.*241C>A) n.11217C>A c.*6829C>A (n.*6829C>A) c.11072C>A (p.Ala3691Asp) c.11147C>A (p.Ala3716Asp) c.11144C>A (p.Ala3715Asp) c.11069C>A (p.Ala3690Asp) c.10769C>A (p.Ala3590Asp) c.8033C>A (p.Ala2678Asp) c.6926C>A (p.Ala2309Asp) c.10952C>A (p.Ala3651Asp) c.6704C>A (p.Ala2235Asp) c.9932C>A (p.Ala3311Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861803C>G | CA371790288 | VPS13B | c.*241C>G (n.*241C>G) n.11217C>G c.*6829C>G (n.*6829C>G) c.11072C>G (p.Ala3691Gly) c.11147C>G (p.Ala3716Gly) c.11144C>G (p.Ala3715Gly) c.11069C>G (p.Ala3690Gly) c.10769C>G (p.Ala3590Gly) c.8033C>G (p.Ala2678Gly) c.6926C>G (p.Ala2309Gly) c.10952C>G (p.Ala3651Gly) c.6704C>G (p.Ala2235Gly) c.9932C>G (p.Ala3311Gly) | |
8 | g.99861803C>T | CA371790290 | VPS13B | c.*241C>T (n.*241C>T) n.11217C>T c.*6829C>T (n.*6829C>T) c.11072C>T (p.Ala3691Val) c.11147C>T (p.Ala3716Val) c.11144C>T (p.Ala3715Val) c.11069C>T (p.Ala3690Val) c.10769C>T (p.Ala3590Val) c.8033C>T (p.Ala2678Val) c.6926C>T (p.Ala2309Val) c.10952C>T (p.Ala3651Val) c.6704C>T (p.Ala2235Val) c.9932C>T (p.Ala3311Val) | gnomAD v4 |
8 | g.99861804C>A | CA462338042 | VPS13B | c.*242C>A (n.*242C>A) n.11218C>A c.*6830C>A (n.*6830C>A) c.11073C>A (p.Ala3691=) c.11148C>A (p.Ala3716=) c.11145C>A (p.Ala3715=) c.11070C>A (p.Ala3690=) c.10770C>A (p.Ala3590=) c.8034C>A (p.Ala2678=) c.6927C>A (p.Ala2309=) c.10953C>A (p.Ala3651=) c.6705C>A (p.Ala2235=) c.9933C>A (p.Ala3311=) | gnomAD v4 |
8 | g.99861804C>G | CA462338043 | VPS13B | c.*242C>G (n.*242C>G) n.11218C>G c.*6830C>G (n.*6830C>G) c.11073C>G (p.Ala3691=) c.11148C>G (p.Ala3716=) c.11145C>G (p.Ala3715=) c.11070C>G (p.Ala3690=) c.10770C>G (p.Ala3590=) c.8034C>G (p.Ala2678=) c.6927C>G (p.Ala2309=) c.10953C>G (p.Ala3651=) c.6705C>G (p.Ala2235=) c.9933C>G (p.Ala3311=) | |
8 | g.99861804C>T | CA462338044 | VPS13B | c.*242C>T (n.*242C>T) n.11218C>T c.*6830C>T (n.*6830C>T) c.11073C>T (p.Ala3691=) c.11148C>T (p.Ala3716=) c.11145C>T (p.Ala3715=) c.11070C>T (p.Ala3690=) c.10770C>T (p.Ala3590=) c.8034C>T (p.Ala2678=) c.6927C>T (p.Ala2309=) c.10953C>T (p.Ala3651=) c.6705C>T (p.Ala2235=) c.9933C>T (p.Ala3311=) | |
8 | g.99861805A>C | CA371790292 | VPS13B | c.*243A>C (n.*243A>C) n.11219A>C c.*6831A>C (n.*6831A>C) c.11074A>C (p.Thr3692Pro) c.11149A>C (p.Thr3717Pro) c.11146A>C (p.Thr3716Pro) c.11071A>C (p.Thr3691Pro) c.10771A>C (p.Thr3591Pro) c.8035A>C (p.Thr2679Pro) c.6928A>C (p.Thr2310Pro) c.10954A>C (p.Thr3652Pro) c.6706A>C (p.Thr2236Pro) c.9934A>C (p.Thr3312Pro) | |
8 | g.99861805A>G | CA371790294 | VPS13B | c.*243A>G (n.*243A>G) n.11219A>G c.*6831A>G (n.*6831A>G) c.11074A>G (p.Thr3692Ala) c.11149A>G (p.Thr3717Ala) c.11146A>G (p.Thr3716Ala) c.11071A>G (p.Thr3691Ala) c.10771A>G (p.Thr3591Ala) c.8035A>G (p.Thr2679Ala) c.6928A>G (p.Thr2310Ala) c.10954A>G (p.Thr3652Ala) c.6706A>G (p.Thr2236Ala) c.9934A>G (p.Thr3312Ala) | |
8 | g.99861805A>T | CA371790296 | VPS13B | c.*243A>T (n.*243A>T) n.11219A>T c.*6831A>T (n.*6831A>T) c.11074A>T (p.Thr3692Ser) c.11149A>T (p.Thr3717Ser) c.11146A>T (p.Thr3716Ser) c.11071A>T (p.Thr3691Ser) c.10771A>T (p.Thr3591Ser) c.8035A>T (p.Thr2679Ser) c.6928A>T (p.Thr2310Ser) c.10954A>T (p.Thr3652Ser) c.6706A>T (p.Thr2236Ser) c.9934A>T (p.Thr3312Ser) | |
8 | g.99861806C>A | CA371790301 | VPS13B | c.*244C>A (n.*244C>A) n.11220C>A c.*6832C>A (n.*6832C>A) c.11075C>A (p.Thr3692Lys) c.11150C>A (p.Thr3717Lys) c.11147C>A (p.Thr3716Lys) c.11072C>A (p.Thr3691Lys) c.10772C>A (p.Thr3591Lys) c.8036C>A (p.Thr2679Lys) c.6929C>A (p.Thr2310Lys) c.10955C>A (p.Thr3652Lys) c.6707C>A (p.Thr2236Lys) c.9935C>A (p.Thr3312Lys) | gnomAD v4 |
8 | g.99861806C>G | CA371790303 | VPS13B | c.*244C>G (n.*244C>G) n.11220C>G c.*6832C>G (n.*6832C>G) c.11075C>G (p.Thr3692Arg) c.11150C>G (p.Thr3717Arg) c.11147C>G (p.Thr3716Arg) c.11072C>G (p.Thr3691Arg) c.10772C>G (p.Thr3591Arg) c.8036C>G (p.Thr2679Arg) c.6929C>G (p.Thr2310Arg) c.10955C>G (p.Thr3652Arg) c.6707C>G (p.Thr2236Arg) c.9935C>G (p.Thr3312Arg) | |
8 | g.99861806C>T | CA371790299 | VPS13B | c.*244C>T (n.*244C>T) n.11220C>T c.*6832C>T (n.*6832C>T) c.11075C>T (p.Thr3692Ile) c.11150C>T (p.Thr3717Ile) c.11147C>T (p.Thr3716Ile) c.11072C>T (p.Thr3691Ile) c.10772C>T (p.Thr3591Ile) c.8036C>T (p.Thr2679Ile) c.6929C>T (p.Thr2310Ile) c.10955C>T (p.Thr3652Ile) c.6707C>T (p.Thr2236Ile) c.9935C>T (p.Thr3312Ile) | |
8 | g.99861807A>C | CA462338045 | VPS13B | c.*245A>C (n.*245A>C) n.11221A>C c.*6833A>C (n.*6833A>C) c.11076A>C (p.Thr3692=) c.11151A>C (p.Thr3717=) c.11148A>C (p.Thr3716=) c.11073A>C (p.Thr3691=) c.10773A>C (p.Thr3591=) c.8037A>C (p.Thr2679=) c.6930A>C (p.Thr2310=) c.10956A>C (p.Thr3652=) c.6708A>C (p.Thr2236=) c.9936A>C (p.Thr3312=) | |
8 | g.99861807A>G | CA462338046 | VPS13B | c.*245A>G (n.*245A>G) n.11221A>G c.*6833A>G (n.*6833A>G) c.11076A>G (p.Thr3692=) c.11151A>G (p.Thr3717=) c.11148A>G (p.Thr3716=) c.11073A>G (p.Thr3691=) c.10773A>G (p.Thr3591=) c.8037A>G (p.Thr2679=) c.6930A>G (p.Thr2310=) c.10956A>G (p.Thr3652=) c.6708A>G (p.Thr2236=) c.9936A>G (p.Thr3312=) | ClinVar |
8 | g.99861807A>T | CA462338047 | VPS13B | c.*245A>T (n.*245A>T) n.11221A>T c.*6833A>T (n.*6833A>T) c.11076A>T (p.Thr3692=) c.11151A>T (p.Thr3717=) c.11148A>T (p.Thr3716=) c.11073A>T (p.Thr3691=) c.10773A>T (p.Thr3591=) c.8037A>T (p.Thr2679=) c.6930A>T (p.Thr2310=) c.10956A>T (p.Thr3652=) c.6708A>T (p.Thr2236=) c.9936A>T (p.Thr3312=) | |
8 | g.99861808del | CA4825137 | VPS13B | c.*246del (n.*246del) n.11222del c.*6834del (n.*6834del) c.11077del (p.Ser3693AlafsTer?) c.11152del (p.Ser3718AlafsTer?) c.11149del (p.Ser3717AlafsTer?) c.11074del (p.Ser3692AlafsTer?) c.10774del (p.Ser3592AlafsTer?) c.8038del (p.Ser2680AlafsTer?) c.6931del (p.Ser2311AlafsTer?) c.10957del (p.Ser3653AlafsTer?) c.6709del (p.Ser2237AlafsTer?) c.9937del (p.Ser3313AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861808A>C | CA371790306 | VPS13B | c.*246A>C (n.*246A>C) n.11222A>C c.*6834A>C (n.*6834A>C) c.11077A>C (p.Ser3693Arg) c.11152A>C (p.Ser3718Arg) c.11149A>C (p.Ser3717Arg) c.11074A>C (p.Ser3692Arg) c.10774A>C (p.Ser3592Arg) c.8038A>C (p.Ser2680Arg) c.6931A>C (p.Ser2311Arg) c.10957A>C (p.Ser3653Arg) c.6709A>C (p.Ser2237Arg) c.9937A>C (p.Ser3313Arg) | |
8 | g.99861808A>G | CA371790308 | VPS13B | c.*246A>G (n.*246A>G) n.11222A>G c.*6834A>G (n.*6834A>G) c.11077A>G (p.Ser3693Gly) c.11152A>G (p.Ser3718Gly) c.11149A>G (p.Ser3717Gly) c.11074A>G (p.Ser3692Gly) c.10774A>G (p.Ser3592Gly) c.8038A>G (p.Ser2680Gly) c.6931A>G (p.Ser2311Gly) c.10957A>G (p.Ser3653Gly) c.6709A>G (p.Ser2237Gly) c.9937A>G (p.Ser3313Gly) | gnomAD v4 |
8 | g.99861808A>T | CA182321336 | VPS13B | c.*246A>T (n.*246A>T) n.11222A>T c.*6834A>T (n.*6834A>T) c.11077A>T (p.Ser3693Cys) c.11152A>T (p.Ser3718Cys) c.11149A>T (p.Ser3717Cys) c.11074A>T (p.Ser3692Cys) c.10774A>T (p.Ser3592Cys) c.8038A>T (p.Ser2680Cys) c.6931A>T (p.Ser2311Cys) c.10957A>T (p.Ser3653Cys) c.6709A>T (p.Ser2237Cys) c.9937A>T (p.Ser3313Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861809G>A | CA371790312 | VPS13B | c.*247G>A (n.*247G>A) n.11223G>A c.*6835G>A (n.*6835G>A) c.11078G>A (p.Ser3693Asn) c.11153G>A (p.Ser3718Asn) c.11150G>A (p.Ser3717Asn) c.11075G>A (p.Ser3692Asn) c.10775G>A (p.Ser3592Asn) c.8039G>A (p.Ser2680Asn) c.6932G>A (p.Ser2311Asn) c.10958G>A (p.Ser3653Asn) c.6710G>A (p.Ser2237Asn) c.9938G>A (p.Ser3313Asn) | |
8 | g.99861809G>C | CA223348 | VPS13B | c.*247G>C (n.*247G>C) n.11223G>C c.*6835G>C (n.*6835G>C) c.11078G>C (p.Ser3693Thr) c.11153G>C (p.Ser3718Thr) c.11150G>C (p.Ser3717Thr) c.11075G>C (p.Ser3692Thr) c.10775G>C (p.Ser3592Thr) c.8039G>C (p.Ser2680Thr) c.6932G>C (p.Ser2311Thr) c.10958G>C (p.Ser3653Thr) c.6710G>C (p.Ser2237Thr) c.9938G>C (p.Ser3313Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.99861809G>T | CA371790315 | VPS13B | c.*247G>T (n.*247G>T) n.11223G>T c.*6835G>T (n.*6835G>T) c.11078G>T (p.Ser3693Ile) c.11153G>T (p.Ser3718Ile) c.11150G>T (p.Ser3717Ile) c.11075G>T (p.Ser3692Ile) c.10775G>T (p.Ser3592Ile) c.8039G>T (p.Ser2680Ile) c.6932G>T (p.Ser2311Ile) c.10958G>T (p.Ser3653Ile) c.6710G>T (p.Ser2237Ile) c.9938G>T (p.Ser3313Ile) | gnomAD v4 |
8 | g.99861810C>A | CA371790318 | VPS13B | c.*248C>A (n.*248C>A) n.11224C>A c.*6836C>A (n.*6836C>A) c.11079C>A (p.Ser3693Arg) c.11154C>A (p.Ser3718Arg) c.11151C>A (p.Ser3717Arg) c.11076C>A (p.Ser3692Arg) c.10776C>A (p.Ser3592Arg) c.8040C>A (p.Ser2680Arg) c.6933C>A (p.Ser2311Arg) c.10959C>A (p.Ser3653Arg) c.6711C>A (p.Ser2237Arg) c.9939C>A (p.Ser3313Arg) | gnomAD v4 |
8 | g.99861810C>G | CA371790321 | VPS13B | c.*248C>G (n.*248C>G) n.11224C>G c.*6836C>G (n.*6836C>G) c.11079C>G (p.Ser3693Arg) c.11154C>G (p.Ser3718Arg) c.11151C>G (p.Ser3717Arg) c.11076C>G (p.Ser3692Arg) c.10776C>G (p.Ser3592Arg) c.8040C>G (p.Ser2680Arg) c.6933C>G (p.Ser2311Arg) c.10959C>G (p.Ser3653Arg) c.6711C>G (p.Ser2237Arg) c.9939C>G (p.Ser3313Arg) | gnomAD v4 |
8 | g.99861810C>T | CA4825138 | VPS13B | c.*248C>T (n.*248C>T) n.11224C>T c.*6836C>T (n.*6836C>T) c.11079C>T (p.Ser3693=) c.11154C>T (p.Ser3718=) c.11151C>T (p.Ser3717=) c.11076C>T (p.Ser3692=) c.10776C>T (p.Ser3592=) c.8040C>T (p.Ser2680=) c.6933C>T (p.Ser2311=) c.10959C>T (p.Ser3653=) c.6711C>T (p.Ser2237=) c.9939C>T (p.Ser3313=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861811del | CA583861169 | VPS13B | c.*249del (n.*249del) n.11225del c.*6837del (n.*6837del) c.11080del (p.Leu3694TrpfsTer?) c.11155del (p.Leu3719TrpfsTer?) c.11152del (p.Leu3718TrpfsTer?) c.11077del (p.Leu3693TrpfsTer?) c.10777del (p.Leu3593TrpfsTer?) c.8041del (p.Leu2681TrpfsTer?) c.6934del (p.Leu2312TrpfsTer?) c.10960del (p.Leu3654TrpfsTer?) c.6712del (p.Leu2238TrpfsTer?) c.9940del (p.Leu3314TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861811C>A | CA371790324 | VPS13B | c.*249C>A (n.*249C>A) n.11225C>A c.*6837C>A (n.*6837C>A) c.11080C>A (p.Leu3694Met) c.11155C>A (p.Leu3719Met) c.11152C>A (p.Leu3718Met) c.11077C>A (p.Leu3693Met) c.10777C>A (p.Leu3593Met) c.8041C>A (p.Leu2681Met) c.6934C>A (p.Leu2312Met) c.10960C>A (p.Leu3654Met) c.6712C>A (p.Leu2238Met) c.9940C>A (p.Leu3314Met) | |
8 | g.99861811C>G | CA371790326 | VPS13B | c.*249C>G (n.*249C>G) n.11225C>G c.*6837C>G (n.*6837C>G) c.11080C>G (p.Leu3694Val) c.11155C>G (p.Leu3719Val) c.11152C>G (p.Leu3718Val) c.11077C>G (p.Leu3693Val) c.10777C>G (p.Leu3593Val) c.8041C>G (p.Leu2681Val) c.6934C>G (p.Leu2312Val) c.10960C>G (p.Leu3654Val) c.6712C>G (p.Leu2238Val) c.9940C>G (p.Leu3314Val) | |
8 | g.99861811C>T | CA462338048 | VPS13B | c.*249C>T (n.*249C>T) n.11225C>T c.*6837C>T (n.*6837C>T) c.11080C>T (p.Leu3694=) c.11155C>T (p.Leu3719=) c.11152C>T (p.Leu3718=) c.11077C>T (p.Leu3693=) c.10777C>T (p.Leu3593=) c.8041C>T (p.Leu2681=) c.6934C>T (p.Leu2312=) c.10960C>T (p.Leu3654=) c.6712C>T (p.Leu2238=) c.9940C>T (p.Leu3314=) | |
8 | g.99861812del | CA2781481067 | VPS13B | c.*250del (n.*250del) n.11226del c.*6838del (n.*6838del) c.11081del (p.Leu3694ArgfsTer?) c.11156del (p.Leu3719ArgfsTer?) c.11153del (p.Leu3718ArgfsTer?) c.11078del (p.Leu3693ArgfsTer?) c.10778del (p.Leu3593ArgfsTer?) c.8042del (p.Leu2681ArgfsTer?) c.6935del (p.Leu2312ArgfsTer?) c.10961del (p.Leu3654ArgfsTer?) c.6713del (p.Leu2238ArgfsTer?) c.9941del (p.Leu3314ArgfsTer?) | |
8 | g.99861812T>A | CA371790328 | VPS13B | c.*250T>A (n.*250T>A) n.11226T>A c.*6838T>A (n.*6838T>A) c.11081T>A (p.Leu3694Gln) c.11156T>A (p.Leu3719Gln) c.11153T>A (p.Leu3718Gln) c.11078T>A (p.Leu3693Gln) c.10778T>A (p.Leu3593Gln) c.8042T>A (p.Leu2681Gln) c.6935T>A (p.Leu2312Gln) c.10961T>A (p.Leu3654Gln) c.6713T>A (p.Leu2238Gln) c.9941T>A (p.Leu3314Gln) | |
8 | g.99861812T>C | CA371790330 | VPS13B | c.*250T>C (n.*250T>C) n.11226T>C c.*6838T>C (n.*6838T>C) c.11081T>C (p.Leu3694Pro) c.11156T>C (p.Leu3719Pro) c.11153T>C (p.Leu3718Pro) c.11078T>C (p.Leu3693Pro) c.10778T>C (p.Leu3593Pro) c.8042T>C (p.Leu2681Pro) c.6935T>C (p.Leu2312Pro) c.10961T>C (p.Leu3654Pro) c.6713T>C (p.Leu2238Pro) c.9941T>C (p.Leu3314Pro) | |
8 | g.99861812T>G | CA371790332 | VPS13B | c.*250T>G (n.*250T>G) n.11226T>G c.*6838T>G (n.*6838T>G) c.11081T>G (p.Leu3694Arg) c.11156T>G (p.Leu3719Arg) c.11153T>G (p.Leu3718Arg) c.11078T>G (p.Leu3693Arg) c.10778T>G (p.Leu3593Arg) c.8042T>G (p.Leu2681Arg) c.6935T>G (p.Leu2312Arg) c.10961T>G (p.Leu3654Arg) c.6713T>G (p.Leu2238Arg) c.9941T>G (p.Leu3314Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861813G>A | CA462338049 | VPS13B | c.*251G>A (n.*251G>A) n.11227G>A c.*6839G>A (n.*6839G>A) c.11082G>A (p.Leu3694=) c.11157G>A (p.Leu3719=) c.11154G>A (p.Leu3718=) c.11079G>A (p.Leu3693=) c.10779G>A (p.Leu3593=) c.8043G>A (p.Leu2681=) c.6936G>A (p.Leu2312=) c.10962G>A (p.Leu3654=) c.6714G>A (p.Leu2238=) c.9942G>A (p.Leu3314=) | |
8 | g.99861813G>C | CA462338050 | VPS13B | c.*251G>C (n.*251G>C) n.11227G>C c.*6839G>C (n.*6839G>C) c.11082G>C (p.Leu3694=) c.11157G>C (p.Leu3719=) c.11154G>C (p.Leu3718=) c.11079G>C (p.Leu3693=) c.10779G>C (p.Leu3593=) c.8043G>C (p.Leu2681=) c.6936G>C (p.Leu2312=) c.10962G>C (p.Leu3654=) c.6714G>C (p.Leu2238=) c.9942G>C (p.Leu3314=) | ClinVar |
8 | g.99861813G>T | CA462338051 | VPS13B | c.*251G>T (n.*251G>T) n.11227G>T c.*6839G>T (n.*6839G>T) c.11082G>T (p.Leu3694=) c.11157G>T (p.Leu3719=) c.11154G>T (p.Leu3718=) c.11079G>T (p.Leu3693=) c.10779G>T (p.Leu3593=) c.8043G>T (p.Leu2681=) c.6936G>T (p.Leu2312=) c.10962G>T (p.Leu3654=) c.6714G>T (p.Leu2238=) c.9942G>T (p.Leu3314=) | |
8 | g.99861814del | CA4825139 | VPS13B | c.*252del (n.*252del) n.11228del c.*6840del (n.*6840del) c.11083del (p.Ala3695ProfsTer?) c.11158del (p.Ala3720ProfsTer?) c.11155del (p.Ala3719ProfsTer?) c.11080del (p.Ala3694ProfsTer?) c.10780del (p.Ala3594ProfsTer?) c.8044del (p.Ala2682ProfsTer?) c.6937del (p.Ala2313ProfsTer?) c.10963del (p.Ala3655ProfsTer?) c.6715del (p.Ala2239ProfsTer?) c.9943del (p.Ala3315ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861814G>A | CA182321372 | VPS13B | c.*252G>A (n.*252G>A) n.11228G>A c.*6840G>A (n.*6840G>A) c.11083G>A (p.Ala3695Thr) c.11158G>A (p.Ala3720Thr) c.11155G>A (p.Ala3719Thr) c.11080G>A (p.Ala3694Thr) c.10780G>A (p.Ala3594Thr) c.8044G>A (p.Ala2682Thr) c.6937G>A (p.Ala2313Thr) c.10963G>A (p.Ala3655Thr) c.6715G>A (p.Ala2239Thr) c.9943G>A (p.Ala3315Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861814G>C | CA371790335 | VPS13B | c.*252G>C (n.*252G>C) n.11228G>C c.*6840G>C (n.*6840G>C) c.11083G>C (p.Ala3695Pro) c.11158G>C (p.Ala3720Pro) c.11155G>C (p.Ala3719Pro) c.11080G>C (p.Ala3694Pro) c.10780G>C (p.Ala3594Pro) c.8044G>C (p.Ala2682Pro) c.6937G>C (p.Ala2313Pro) c.10963G>C (p.Ala3655Pro) c.6715G>C (p.Ala2239Pro) c.9943G>C (p.Ala3315Pro) | |
8 | g.99861814G>T | CA371790338 | VPS13B | c.*252G>T (n.*252G>T) n.11228G>T c.*6840G>T (n.*6840G>T) c.11083G>T (p.Ala3695Ser) c.11158G>T (p.Ala3720Ser) c.11155G>T (p.Ala3719Ser) c.11080G>T (p.Ala3694Ser) c.10780G>T (p.Ala3594Ser) c.8044G>T (p.Ala2682Ser) c.6937G>T (p.Ala2313Ser) c.10963G>T (p.Ala3655Ser) c.6715G>T (p.Ala2239Ser) c.9943G>T (p.Ala3315Ser) | gnomAD v4 |
8 | g.99861815C>A | CA371790340 | VPS13B | c.*253C>A (n.*253C>A) n.11229C>A c.*6841C>A (n.*6841C>A) c.11084C>A (p.Ala3695Asp) c.11159C>A (p.Ala3720Asp) c.11156C>A (p.Ala3719Asp) c.11081C>A (p.Ala3694Asp) c.10781C>A (p.Ala3594Asp) c.8045C>A (p.Ala2682Asp) c.6938C>A (p.Ala2313Asp) c.10964C>A (p.Ala3655Asp) c.6716C>A (p.Ala2239Asp) c.9944C>A (p.Ala3315Asp) | gnomAD v4 |
8 | g.99861815C>G | CA371790343 | VPS13B | c.*253C>G (n.*253C>G) n.11229C>G c.*6841C>G (n.*6841C>G) c.11084C>G (p.Ala3695Gly) c.11159C>G (p.Ala3720Gly) c.11156C>G (p.Ala3719Gly) c.11081C>G (p.Ala3694Gly) c.10781C>G (p.Ala3594Gly) c.8045C>G (p.Ala2682Gly) c.6938C>G (p.Ala2313Gly) c.10964C>G (p.Ala3655Gly) c.6716C>G (p.Ala2239Gly) c.9944C>G (p.Ala3315Gly) | ClinVar gnomAD v4 |
8 | g.99861815C>T | CA371790342 | VPS13B | c.*253C>T (n.*253C>T) n.11229C>T c.*6841C>T (n.*6841C>T) c.11084C>T (p.Ala3695Val) c.11159C>T (p.Ala3720Val) c.11156C>T (p.Ala3719Val) c.11081C>T (p.Ala3694Val) c.10781C>T (p.Ala3594Val) c.8045C>T (p.Ala2682Val) c.6938C>T (p.Ala2313Val) c.10964C>T (p.Ala3655Val) c.6716C>T (p.Ala2239Val) c.9944C>T (p.Ala3315Val) | gnomAD v4 |
8 | g.99861816C>A | CA462338052 | VPS13B | c.*254C>A (n.*254C>A) n.11230C>A c.*6842C>A (n.*6842C>A) c.11085C>A (p.Ala3695=) c.11160C>A (p.Ala3720=) c.11157C>A (p.Ala3719=) c.11082C>A (p.Ala3694=) c.10782C>A (p.Ala3594=) c.8046C>A (p.Ala2682=) c.6939C>A (p.Ala2313=) c.10965C>A (p.Ala3655=) c.6717C>A (p.Ala2239=) c.9945C>A (p.Ala3315=) | gnomAD v4 |
8 | g.99861816C>G | CA462338053 | VPS13B | c.*254C>G (n.*254C>G) n.11230C>G c.*6842C>G (n.*6842C>G) c.11085C>G (p.Ala3695=) c.11160C>G (p.Ala3720=) c.11157C>G (p.Ala3719=) c.11082C>G (p.Ala3694=) c.10782C>G (p.Ala3594=) c.8046C>G (p.Ala2682=) c.6939C>G (p.Ala2313=) c.10965C>G (p.Ala3655=) c.6717C>G (p.Ala2239=) c.9945C>G (p.Ala3315=) | gnomAD v4 |
8 | g.99861816C>T | CA462338054 | VPS13B | c.*254C>T (n.*254C>T) n.11230C>T c.*6842C>T (n.*6842C>T) c.11085C>T (p.Ala3695=) c.11160C>T (p.Ala3720=) c.11157C>T (p.Ala3719=) c.11082C>T (p.Ala3694=) c.10782C>T (p.Ala3594=) c.8046C>T (p.Ala2682=) c.6939C>T (p.Ala2313=) c.10965C>T (p.Ala3655=) c.6717C>T (p.Ala2239=) c.9945C>T (p.Ala3315=) | |
8 | g.99861817C>A | CA462338055 | VPS13B | c.*255C>A (n.*255C>A) n.11231C>A c.*6843C>A (n.*6843C>A) c.11086C>A (p.Arg3696=) c.11161C>A (p.Arg3721=) c.11158C>A (p.Arg3720=) c.11083C>A (p.Arg3695=) c.10783C>A (p.Arg3595=) c.8047C>A (p.Arg2683=) c.6940C>A (p.Arg2314=) c.10966C>A (p.Arg3656=) c.6718C>A (p.Arg2240=) c.9946C>A (p.Arg3316=) | gnomAD v4 |
8 | g.99861817C>G | CA371790345 | VPS13B | c.*255C>G (n.*255C>G) n.11231C>G c.*6843C>G (n.*6843C>G) c.11086C>G (p.Arg3696Gly) c.11161C>G (p.Arg3721Gly) c.11158C>G (p.Arg3720Gly) c.11083C>G (p.Arg3695Gly) c.10783C>G (p.Arg3595Gly) c.8047C>G (p.Arg2683Gly) c.6940C>G (p.Arg2314Gly) c.10966C>G (p.Arg3656Gly) c.6718C>G (p.Arg2240Gly) c.9946C>G (p.Arg3316Gly) | |
8 | g.99861817C>T | CA4825140 | VPS13B | c.*255C>T (n.*255C>T) n.11231C>T c.*6843C>T (n.*6843C>T) c.11086C>T (p.Arg3696Trp) c.11161C>T (p.Arg3721Trp) c.11158C>T (p.Arg3720Trp) c.11083C>T (p.Arg3695Trp) c.10783C>T (p.Arg3595Trp) c.8047C>T (p.Arg2683Trp) c.6940C>T (p.Arg2314Trp) c.10966C>T (p.Arg3656Trp) c.6718C>T (p.Arg2240Trp) c.9946C>T (p.Arg3316Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861818G>A | CA4825141 | VPS13B | c.*256G>A (n.*256G>A) n.11232G>A c.*6844G>A (n.*6844G>A) c.11087G>A (p.Arg3696Gln) c.11162G>A (p.Arg3721Gln) c.11159G>A (p.Arg3720Gln) c.11084G>A (p.Arg3695Gln) c.10784G>A (p.Arg3595Gln) c.8048G>A (p.Arg2683Gln) c.6941G>A (p.Arg2314Gln) c.10967G>A (p.Arg3656Gln) c.6719G>A (p.Arg2240Gln) c.9947G>A (p.Arg3316Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861818G>C | CA371790351 | VPS13B | c.*256G>C (n.*256G>C) n.11232G>C c.*6844G>C (n.*6844G>C) c.11087G>C (p.Arg3696Pro) c.11162G>C (p.Arg3721Pro) c.11159G>C (p.Arg3720Pro) c.11084G>C (p.Arg3695Pro) c.10784G>C (p.Arg3595Pro) c.8048G>C (p.Arg2683Pro) c.6941G>C (p.Arg2314Pro) c.10967G>C (p.Arg3656Pro) c.6719G>C (p.Arg2240Pro) c.9947G>C (p.Arg3316Pro) | |
8 | g.99861818G>T | CA371790352 | VPS13B | c.*256G>T (n.*256G>T) n.11232G>T c.*6844G>T (n.*6844G>T) c.11087G>T (p.Arg3696Leu) c.11162G>T (p.Arg3721Leu) c.11159G>T (p.Arg3720Leu) c.11084G>T (p.Arg3695Leu) c.10784G>T (p.Arg3595Leu) c.8048G>T (p.Arg2683Leu) c.6941G>T (p.Arg2314Leu) c.10967G>T (p.Arg3656Leu) c.6719G>T (p.Arg2240Leu) c.9947G>T (p.Arg3316Leu) | gnomAD v4 |
8 | g.99861819G>A | CA462338056 | VPS13B | c.*257G>A (n.*257G>A) n.11233G>A c.*6845G>A (n.*6845G>A) c.11088G>A (p.Arg3696=) c.11163G>A (p.Arg3721=) c.11160G>A (p.Arg3720=) c.11085G>A (p.Arg3695=) c.10785G>A (p.Arg3595=) c.8049G>A (p.Arg2683=) c.6942G>A (p.Arg2314=) c.10968G>A (p.Arg3656=) c.6720G>A (p.Arg2240=) c.9948G>A (p.Arg3316=) | gnomAD v4 |
8 | g.99861819G>C | CA462338057 | VPS13B | c.*257G>C (n.*257G>C) n.11233G>C c.*6845G>C (n.*6845G>C) c.11088G>C (p.Arg3696=) c.11163G>C (p.Arg3721=) c.11160G>C (p.Arg3720=) c.11085G>C (p.Arg3695=) c.10785G>C (p.Arg3595=) c.8049G>C (p.Arg2683=) c.6942G>C (p.Arg2314=) c.10968G>C (p.Arg3656=) c.6720G>C (p.Arg2240=) c.9948G>C (p.Arg3316=) | |
8 | g.99861819G>T | CA462338058 | VPS13B | c.*257G>T (n.*257G>T) n.11233G>T c.*6845G>T (n.*6845G>T) c.11088G>T (p.Arg3696=) c.11163G>T (p.Arg3721=) c.11160G>T (p.Arg3720=) c.11085G>T (p.Arg3695=) c.10785G>T (p.Arg3595=) c.8049G>T (p.Arg2683=) c.6942G>T (p.Arg2314=) c.10968G>T (p.Arg3656=) c.6720G>T (p.Arg2240=) c.9948G>T (p.Arg3316=) | gnomAD v4 COSMIC COSMIC |
8 | g.99861820A>C | CA371790354 | VPS13B | c.*258A>C (n.*258A>C) n.11234A>C c.*6846A>C (n.*6846A>C) c.11089A>C (p.Asn3697His) c.11164A>C (p.Asn3722His) c.11161A>C (p.Asn3721His) c.11086A>C (p.Asn3696His) c.10786A>C (p.Asn3596His) c.8050A>C (p.Asn2684His) c.6943A>C (p.Asn2315His) c.10969A>C (p.Asn3657His) c.6721A>C (p.Asn2241His) c.9949A>C (p.Asn3317His) | |
8 | g.99861820A>G | CA371790356 | VPS13B | c.*258A>G (n.*258A>G) n.11234A>G c.*6846A>G (n.*6846A>G) c.11089A>G (p.Asn3697Asp) c.11164A>G (p.Asn3722Asp) c.11161A>G (p.Asn3721Asp) c.11086A>G (p.Asn3696Asp) c.10786A>G (p.Asn3596Asp) c.8050A>G (p.Asn2684Asp) c.6943A>G (p.Asn2315Asp) c.10969A>G (p.Asn3657Asp) c.6721A>G (p.Asn2241Asp) c.9949A>G (p.Asn3317Asp) | |
8 | g.99861820A>T | CA371790359 | VPS13B | c.*258A>T (n.*258A>T) n.11234A>T c.*6846A>T (n.*6846A>T) c.11089A>T (p.Asn3697Tyr) c.11164A>T (p.Asn3722Tyr) c.11161A>T (p.Asn3721Tyr) c.11086A>T (p.Asn3696Tyr) c.10786A>T (p.Asn3596Tyr) c.8050A>T (p.Asn2684Tyr) c.6943A>T (p.Asn2315Tyr) c.10969A>T (p.Asn3657Tyr) c.6721A>T (p.Asn2241Tyr) c.9949A>T (p.Asn3317Tyr) | |
8 | g.99861821A>C | CA371790360 | VPS13B | c.*259A>C (n.*259A>C) n.11235A>C c.*6847A>C (n.*6847A>C) c.11090A>C (p.Asn3697Thr) c.11165A>C (p.Asn3722Thr) c.11162A>C (p.Asn3721Thr) c.11087A>C (p.Asn3696Thr) c.10787A>C (p.Asn3596Thr) c.8051A>C (p.Asn2684Thr) c.6944A>C (p.Asn2315Thr) c.10970A>C (p.Asn3657Thr) c.6722A>C (p.Asn2241Thr) c.9950A>C (p.Asn3317Thr) | |
8 | g.99861821A>G | CA371790362 | VPS13B | c.*259A>G (n.*259A>G) n.11235A>G c.*6847A>G (n.*6847A>G) c.11090A>G (p.Asn3697Ser) c.11165A>G (p.Asn3722Ser) c.11162A>G (p.Asn3721Ser) c.11087A>G (p.Asn3696Ser) c.10787A>G (p.Asn3596Ser) c.8051A>G (p.Asn2684Ser) c.6944A>G (p.Asn2315Ser) c.10970A>G (p.Asn3657Ser) c.6722A>G (p.Asn2241Ser) c.9950A>G (p.Asn3317Ser) | gnomAD v4 |
8 | g.99861821A>T | CA371790364 | VPS13B | c.*259A>T (n.*259A>T) n.11235A>T c.*6847A>T (n.*6847A>T) c.11090A>T (p.Asn3697Ile) c.11165A>T (p.Asn3722Ile) c.11162A>T (p.Asn3721Ile) c.11087A>T (p.Asn3696Ile) c.10787A>T (p.Asn3596Ile) c.8051A>T (p.Asn2684Ile) c.6944A>T (p.Asn2315Ile) c.10970A>T (p.Asn3657Ile) c.6722A>T (p.Asn2241Ile) c.9950A>T (p.Asn3317Ile) | |
8 | g.99861822C>A | CA371790367 | VPS13B | c.*260C>A (n.*260C>A) n.11236C>A c.*6848C>A (n.*6848C>A) c.11091C>A (p.Asn3697Lys) c.11166C>A (p.Asn3722Lys) c.11163C>A (p.Asn3721Lys) c.11088C>A (p.Asn3696Lys) c.10788C>A (p.Asn3596Lys) c.8052C>A (p.Asn2684Lys) c.6945C>A (p.Asn2315Lys) c.10971C>A (p.Asn3657Lys) c.6723C>A (p.Asn2241Lys) c.9951C>A (p.Asn3317Lys) | gnomAD v4 |
8 | g.99861822C>G | CA371790368 | VPS13B | c.*260C>G (n.*260C>G) n.11236C>G c.*6848C>G (n.*6848C>G) c.11091C>G (p.Asn3697Lys) c.11166C>G (p.Asn3722Lys) c.11163C>G (p.Asn3721Lys) c.11088C>G (p.Asn3696Lys) c.10788C>G (p.Asn3596Lys) c.8052C>G (p.Asn2684Lys) c.6945C>G (p.Asn2315Lys) c.10971C>G (p.Asn3657Lys) c.6723C>G (p.Asn2241Lys) c.9951C>G (p.Asn3317Lys) | |
8 | g.99861822C>T | CA462338059 | VPS13B | c.*260C>T (n.*260C>T) n.11236C>T c.*6848C>T (n.*6848C>T) c.11091C>T (p.Asn3697=) c.11166C>T (p.Asn3722=) c.11163C>T (p.Asn3721=) c.11088C>T (p.Asn3696=) c.10788C>T (p.Asn3596=) c.8052C>T (p.Asn2684=) c.6945C>T (p.Asn2315=) c.10971C>T (p.Asn3657=) c.6723C>T (p.Asn2241=) c.9951C>T (p.Asn3317=) | |
8 | g.99861823A>C | CA371790371 | VPS13B | c.*261A>C (n.*261A>C) n.11237A>C c.*6849A>C (n.*6849A>C) c.11092A>C (p.Met3698Leu) c.11167A>C (p.Met3723Leu) c.11164A>C (p.Met3722Leu) c.11089A>C (p.Met3697Leu) c.10789A>C (p.Met3597Leu) c.8053A>C (p.Met2685Leu) c.6946A>C (p.Met2316Leu) c.10972A>C (p.Met3658Leu) c.6724A>C (p.Met2242Leu) c.9952A>C (p.Met3318Leu) | |
8 | g.99861823A>G | CA371790375 | VPS13B | c.*261A>G (n.*261A>G) n.11237A>G c.*6849A>G (n.*6849A>G) c.11092A>G (p.Met3698Val) c.11167A>G (p.Met3723Val) c.11164A>G (p.Met3722Val) c.11089A>G (p.Met3697Val) c.10789A>G (p.Met3597Val) c.8053A>G (p.Met2685Val) c.6946A>G (p.Met2316Val) c.10972A>G (p.Met3658Val) c.6724A>G (p.Met2242Val) c.9952A>G (p.Met3318Val) | gnomAD v4 |
8 | g.99861823A>T | CA371790373 | VPS13B | c.*261A>T (n.*261A>T) n.11237A>T c.*6849A>T (n.*6849A>T) c.11092A>T (p.Met3698Leu) c.11167A>T (p.Met3723Leu) c.11164A>T (p.Met3722Leu) c.11089A>T (p.Met3697Leu) c.10789A>T (p.Met3597Leu) c.8053A>T (p.Met2685Leu) c.6946A>T (p.Met2316Leu) c.10972A>T (p.Met3658Leu) c.6724A>T (p.Met2242Leu) c.9952A>T (p.Met3318Leu) | |
8 | g.99861824T>A | CA371790377 | VPS13B | c.*262T>A (n.*262T>A) n.11238T>A c.*6850T>A (n.*6850T>A) c.11093T>A (p.Met3698Lys) c.11168T>A (p.Met3723Lys) c.11165T>A (p.Met3722Lys) c.11090T>A (p.Met3697Lys) c.10790T>A (p.Met3597Lys) c.8054T>A (p.Met2685Lys) c.6947T>A (p.Met2316Lys) c.10973T>A (p.Met3658Lys) c.6725T>A (p.Met2242Lys) c.9953T>A (p.Met3318Lys) | |
8 | g.99861824T>C | CA371790378 | VPS13B | c.*262T>C (n.*262T>C) n.11238T>C c.*6850T>C (n.*6850T>C) c.11093T>C (p.Met3698Thr) c.11168T>C (p.Met3723Thr) c.11165T>C (p.Met3722Thr) c.11090T>C (p.Met3697Thr) c.10790T>C (p.Met3597Thr) c.8054T>C (p.Met2685Thr) c.6947T>C (p.Met2316Thr) c.10973T>C (p.Met3658Thr) c.6725T>C (p.Met2242Thr) c.9953T>C (p.Met3318Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.99861824T>G | CA371790380 | VPS13B | c.*262T>G (n.*262T>G) n.11238T>G c.*6850T>G (n.*6850T>G) c.11093T>G (p.Met3698Arg) c.11168T>G (p.Met3723Arg) c.11165T>G (p.Met3722Arg) c.11090T>G (p.Met3697Arg) c.10790T>G (p.Met3597Arg) c.8054T>G (p.Met2685Arg) c.6947T>G (p.Met2316Arg) c.10973T>G (p.Met3658Arg) c.6725T>G (p.Met2242Arg) c.9953T>G (p.Met3318Arg) | |
8 | g.99861825G>A | CA371790383 | VPS13B | c.*263G>A (n.*263G>A) n.11239G>A c.*6851G>A (n.*6851G>A) c.11094G>A (p.Met3698Ile) c.11169G>A (p.Met3723Ile) c.11166G>A (p.Met3722Ile) c.11091G>A (p.Met3697Ile) c.10791G>A (p.Met3597Ile) c.8055G>A (p.Met2685Ile) c.6948G>A (p.Met2316Ile) c.10974G>A (p.Met3658Ile) c.6726G>A (p.Met2242Ile) c.9954G>A (p.Met3318Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861825G>C | CA371790385 | VPS13B | c.*263G>C (n.*263G>C) n.11239G>C c.*6851G>C (n.*6851G>C) c.11094G>C (p.Met3698Ile) c.11169G>C (p.Met3723Ile) c.11166G>C (p.Met3722Ile) c.11091G>C (p.Met3697Ile) c.10791G>C (p.Met3597Ile) c.8055G>C (p.Met2685Ile) c.6948G>C (p.Met2316Ile) c.10974G>C (p.Met3658Ile) c.6726G>C (p.Met2242Ile) c.9954G>C (p.Met3318Ile) | |
8 | g.99861825G>T | CA371790387 | VPS13B | c.*263G>T (n.*263G>T) n.11239G>T c.*6851G>T (n.*6851G>T) c.11094G>T (p.Met3698Ile) c.11169G>T (p.Met3723Ile) c.11166G>T (p.Met3722Ile) c.11091G>T (p.Met3697Ile) c.10791G>T (p.Met3597Ile) c.8055G>T (p.Met2685Ile) c.6948G>T (p.Met2316Ile) c.10974G>T (p.Met3658Ile) c.6726G>T (p.Met2242Ile) c.9954G>T (p.Met3318Ile) | gnomAD v4 |
8 | g.99861825_99861828dup | CA264002 | VPS13B | c.*263_*266dup (n.*263_*266dup) n.11239_11242dup c.*6851_*6854dup (n.*6851_*6854dup) c.11094_11097dup (p.Arg3700GlyfsTer7) c.11169_11172dup (p.Arg3725GlyfsTer7) c.11166_11169dup (p.Arg3724GlyfsTer7) c.11091_11094dup (p.Arg3699GlyfsTer7) c.10791_10794dup (p.Arg3599GlyfsTer7) c.8055_8058dup (p.Arg2687GlyfsTer7) c.6948_6951dup (p.Arg2318GlyfsTer7) c.10974_10977dup (p.Arg3660GlyfsTer7) c.6726_6729dup (p.Arg2244GlyfsTer7) c.9954_9957dup (p.Arg3320GlyfsTer7) | ClinVar dbSNP |
8 | g.99861826G>A | CA371790390 | VPS13B | c.*264G>A (n.*264G>A) n.11240G>A c.*6852G>A (n.*6852G>A) c.11095G>A (p.Asp3699Asn) c.11170G>A (p.Asp3724Asn) c.11167G>A (p.Asp3723Asn) c.11092G>A (p.Asp3698Asn) c.10792G>A (p.Asp3598Asn) c.8056G>A (p.Asp2686Asn) c.6949G>A (p.Asp2317Asn) c.10975G>A (p.Asp3659Asn) c.6727G>A (p.Asp2243Asn) c.9955G>A (p.Asp3319Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861826G>C | CA371790392 | VPS13B | c.*264G>C (n.*264G>C) n.11240G>C c.*6852G>C (n.*6852G>C) c.11095G>C (p.Asp3699His) c.11170G>C (p.Asp3724His) c.11167G>C (p.Asp3723His) c.11092G>C (p.Asp3698His) c.10792G>C (p.Asp3598His) c.8056G>C (p.Asp2686His) c.6949G>C (p.Asp2317His) c.10975G>C (p.Asp3659His) c.6727G>C (p.Asp2243His) c.9955G>C (p.Asp3319His) | |
8 | g.99861826G>T | CA371790394 | VPS13B | c.*264G>T (n.*264G>T) n.11240G>T c.*6852G>T (n.*6852G>T) c.11095G>T (p.Asp3699Tyr) c.11170G>T (p.Asp3724Tyr) c.11167G>T (p.Asp3723Tyr) c.11092G>T (p.Asp3698Tyr) c.10792G>T (p.Asp3598Tyr) c.8056G>T (p.Asp2686Tyr) c.6949G>T (p.Asp2317Tyr) c.10975G>T (p.Asp3659Tyr) c.6727G>T (p.Asp2243Tyr) c.9955G>T (p.Asp3319Tyr) | gnomAD v4 |
8 | g.99861827A>C | CA371790401 | VPS13B | c.*265A>C (n.*265A>C) n.11241A>C c.*6853A>C (n.*6853A>C) c.11096A>C (p.Asp3699Ala) c.11171A>C (p.Asp3724Ala) c.11168A>C (p.Asp3723Ala) c.11093A>C (p.Asp3698Ala) c.10793A>C (p.Asp3598Ala) c.8057A>C (p.Asp2686Ala) c.6950A>C (p.Asp2317Ala) c.10976A>C (p.Asp3659Ala) c.6728A>C (p.Asp2243Ala) c.9956A>C (p.Asp3319Ala) | |
8 | g.99861827A>G | CA371790398 | VPS13B | c.*265A>G (n.*265A>G) n.11241A>G c.*6853A>G (n.*6853A>G) c.11096A>G (p.Asp3699Gly) c.11171A>G (p.Asp3724Gly) c.11168A>G (p.Asp3723Gly) c.11093A>G (p.Asp3698Gly) c.10793A>G (p.Asp3598Gly) c.8057A>G (p.Asp2686Gly) c.6950A>G (p.Asp2317Gly) c.10976A>G (p.Asp3659Gly) c.6728A>G (p.Asp2243Gly) c.9956A>G (p.Asp3319Gly) | |
8 | g.99861827A>T | CA371790396 | VPS13B | c.*265A>T (n.*265A>T) n.11241A>T c.*6853A>T (n.*6853A>T) c.11096A>T (p.Asp3699Val) c.11171A>T (p.Asp3724Val) c.11168A>T (p.Asp3723Val) c.11093A>T (p.Asp3698Val) c.10793A>T (p.Asp3598Val) c.8057A>T (p.Asp2686Val) c.6950A>T (p.Asp2317Val) c.10976A>T (p.Asp3659Val) c.6728A>T (p.Asp2243Val) c.9956A>T (p.Asp3319Val) | |
8 | g.99861828C>A | CA371790403 | VPS13B | c.*266C>A (n.*266C>A) n.11242C>A c.*6854C>A (n.*6854C>A) c.11097C>A (p.Asp3699Glu) c.11172C>A (p.Asp3724Glu) c.11169C>A (p.Asp3723Glu) c.11094C>A (p.Asp3698Glu) c.10794C>A (p.Asp3598Glu) c.8058C>A (p.Asp2686Glu) c.6951C>A (p.Asp2317Glu) c.10977C>A (p.Asp3659Glu) c.6729C>A (p.Asp2243Glu) c.9957C>A (p.Asp3319Glu) | gnomAD v4 |
8 | g.99861828C>G | CA371790405 | VPS13B | c.*266C>G (n.*266C>G) n.11242C>G c.*6854C>G (n.*6854C>G) c.11097C>G (p.Asp3699Glu) c.11172C>G (p.Asp3724Glu) c.11169C>G (p.Asp3723Glu) c.11094C>G (p.Asp3698Glu) c.10794C>G (p.Asp3598Glu) c.8058C>G (p.Asp2686Glu) c.6951C>G (p.Asp2317Glu) c.10977C>G (p.Asp3659Glu) c.6729C>G (p.Asp2243Glu) c.9957C>G (p.Asp3319Glu) | |
8 | g.99861828C>T | CA462338060 | VPS13B | c.*266C>T (n.*266C>T) n.11242C>T c.*6854C>T (n.*6854C>T) c.11097C>T (p.Asp3699=) c.11172C>T (p.Asp3724=) c.11169C>T (p.Asp3723=) c.11094C>T (p.Asp3698=) c.10794C>T (p.Asp3598=) c.8058C>T (p.Asp2686=) c.6951C>T (p.Asp2317=) c.10977C>T (p.Asp3659=) c.6729C>T (p.Asp2243=) c.9957C>T (p.Asp3319=) | ClinVar |
8 | g.99861829del | CA4825142 | VPS13B | c.*267del (n.*267del) n.11243del c.*6855del (n.*6855del) c.11098del (p.Arg3700GlyfsTer?) c.11173del (p.Arg3725GlyfsTer?) c.11170del (p.Arg3724GlyfsTer?) c.11095del (p.Arg3699GlyfsTer?) c.10795del (p.Arg3599GlyfsTer?) c.8059del (p.Arg2687GlyfsTer?) c.6952del (p.Arg2318GlyfsTer?) c.10978del (p.Arg3660GlyfsTer?) c.6730del (p.Arg2244GlyfsTer?) c.9958del (p.Arg3320GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861829C>A | CA462338061 | VPS13B | c.*267C>A (n.*267C>A) n.11243C>A c.*6855C>A (n.*6855C>A) c.11098C>A (p.Arg3700=) c.11173C>A (p.Arg3725=) c.11170C>A (p.Arg3724=) c.11095C>A (p.Arg3699=) c.10795C>A (p.Arg3599=) c.8059C>A (p.Arg2687=) c.6952C>A (p.Arg2318=) c.10978C>A (p.Arg3660=) c.6730C>A (p.Arg2244=) c.9958C>A (p.Arg3320=) | gnomAD v4 |
8 | g.99861829C>G | CA371790409 | VPS13B | c.*267C>G (n.*267C>G) n.11243C>G c.*6855C>G (n.*6855C>G) c.11098C>G (p.Arg3700Gly) c.11173C>G (p.Arg3725Gly) c.11170C>G (p.Arg3724Gly) c.11095C>G (p.Arg3699Gly) c.10795C>G (p.Arg3599Gly) c.8059C>G (p.Arg2687Gly) c.6952C>G (p.Arg2318Gly) c.10978C>G (p.Arg3660Gly) c.6730C>G (p.Arg2244Gly) c.9958C>G (p.Arg3320Gly) | |
8 | g.99861829C>T | CA4825143 | VPS13B | c.*267C>T (n.*267C>T) n.11243C>T c.*6855C>T (n.*6855C>T) c.11098C>T (p.Arg3700Trp) c.11173C>T (p.Arg3725Trp) c.11170C>T (p.Arg3724Trp) c.11095C>T (p.Arg3699Trp) c.10795C>T (p.Arg3599Trp) c.8059C>T (p.Arg2687Trp) c.6952C>T (p.Arg2318Trp) c.10978C>T (p.Arg3660Trp) c.6730C>T (p.Arg2244Trp) c.9958C>T (p.Arg3320Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861830G>A | CA4825144 | VPS13B | c.*268G>A (n.*268G>A) n.11244G>A c.*6856G>A (n.*6856G>A) c.11099G>A (p.Arg3700Gln) c.11174G>A (p.Arg3725Gln) c.11171G>A (p.Arg3724Gln) c.11096G>A (p.Arg3699Gln) c.10796G>A (p.Arg3599Gln) c.8060G>A (p.Arg2687Gln) c.6953G>A (p.Arg2318Gln) c.10979G>A (p.Arg3660Gln) c.6731G>A (p.Arg2244Gln) c.9959G>A (p.Arg3320Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99861830G>C | CA371790413 | VPS13B | c.*268G>C (n.*268G>C) n.11244G>C c.*6856G>C (n.*6856G>C) c.11099G>C (p.Arg3700Pro) c.11174G>C (p.Arg3725Pro) c.11171G>C (p.Arg3724Pro) c.11096G>C (p.Arg3699Pro) c.10796G>C (p.Arg3599Pro) c.8060G>C (p.Arg2687Pro) c.6953G>C (p.Arg2318Pro) c.10979G>C (p.Arg3660Pro) c.6731G>C (p.Arg2244Pro) c.9959G>C (p.Arg3320Pro) | |
8 | g.99861830G>T | CA371790411 | VPS13B | c.*268G>T (n.*268G>T) n.11244G>T c.*6856G>T (n.*6856G>T) c.11099G>T (p.Arg3700Leu) c.11174G>T (p.Arg3725Leu) c.11171G>T (p.Arg3724Leu) c.11096G>T (p.Arg3699Leu) c.10796G>T (p.Arg3599Leu) c.8060G>T (p.Arg2687Leu) c.6953G>T (p.Arg2318Leu) c.10979G>T (p.Arg3660Leu) c.6731G>T (p.Arg2244Leu) c.9959G>T (p.Arg3320Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.99861831G>A | CA462338062 | VPS13B | c.*269G>A (n.*269G>A) n.11245G>A c.*6857G>A (n.*6857G>A) c.11100G>A (p.Arg3700=) c.11175G>A (p.Arg3725=) c.11172G>A (p.Arg3724=) c.11097G>A (p.Arg3699=) c.10797G>A (p.Arg3599=) c.8061G>A (p.Arg2687=) c.6954G>A (p.Arg2318=) c.10980G>A (p.Arg3660=) c.6732G>A (p.Arg2244=) c.9960G>A (p.Arg3320=) | gnomAD v4 |
8 | g.99861831G>C | CA462338063 | VPS13B | c.*269G>C (n.*269G>C) n.11245G>C c.*6857G>C (n.*6857G>C) c.11100G>C (p.Arg3700=) c.11175G>C (p.Arg3725=) c.11172G>C (p.Arg3724=) c.11097G>C (p.Arg3699=) c.10797G>C (p.Arg3599=) c.8061G>C (p.Arg2687=) c.6954G>C (p.Arg2318=) c.10980G>C (p.Arg3660=) c.6732G>C (p.Arg2244=) c.9960G>C (p.Arg3320=) | |
8 | g.99861831G>T | CA462338064 | VPS13B | c.*269G>T (n.*269G>T) n.11245G>T c.*6857G>T (n.*6857G>T) c.11100G>T (p.Arg3700=) c.11175G>T (p.Arg3725=) c.11172G>T (p.Arg3724=) c.11097G>T (p.Arg3699=) c.10797G>T (p.Arg3599=) c.8061G>T (p.Arg2687=) c.6954G>T (p.Arg2318=) c.10980G>T (p.Arg3660=) c.6732G>T (p.Arg2244=) c.9960G>T (p.Arg3320=) | gnomAD v4 |
8 | g.99861832C>A | CA371790415 | VPS13B | c.*270C>A (n.*270C>A) n.11246C>A c.*6858C>A (n.*6858C>A) c.11101C>A (p.Leu3701Ile) c.11176C>A (p.Leu3726Ile) c.11173C>A (p.Leu3725Ile) c.11098C>A (p.Leu3700Ile) c.10798C>A (p.Leu3600Ile) c.8062C>A (p.Leu2688Ile) c.6955C>A (p.Leu2319Ile) c.10981C>A (p.Leu3661Ile) c.6733C>A (p.Leu2245Ile) c.9961C>A (p.Leu3321Ile) | gnomAD v4 |
8 | g.99861832C>G | CA371790417 | VPS13B | c.*270C>G (n.*270C>G) n.11246C>G c.*6858C>G (n.*6858C>G) c.11101C>G (p.Leu3701Val) c.11176C>G (p.Leu3726Val) c.11173C>G (p.Leu3725Val) c.11098C>G (p.Leu3700Val) c.10798C>G (p.Leu3600Val) c.8062C>G (p.Leu2688Val) c.6955C>G (p.Leu2319Val) c.10981C>G (p.Leu3661Val) c.6733C>G (p.Leu2245Val) c.9961C>G (p.Leu3321Val) | |
8 | g.99861832C>T | CA371790420 | VPS13B | c.*270C>T (n.*270C>T) n.11246C>T c.*6858C>T (n.*6858C>T) c.11101C>T (p.Leu3701Phe) c.11176C>T (p.Leu3726Phe) c.11173C>T (p.Leu3725Phe) c.11098C>T (p.Leu3700Phe) c.10798C>T (p.Leu3600Phe) c.8062C>T (p.Leu2688Phe) c.6955C>T (p.Leu2319Phe) c.10981C>T (p.Leu3661Phe) c.6733C>T (p.Leu2245Phe) c.9961C>T (p.Leu3321Phe) | gnomAD v4 |
8 | g.99861833T>A | CA371790422 | VPS13B | c.*271T>A (n.*271T>A) n.11247T>A c.*6859T>A (n.*6859T>A) c.11102T>A (p.Leu3701His) c.11177T>A (p.Leu3726His) c.11174T>A (p.Leu3725His) c.11099T>A (p.Leu3700His) c.10799T>A (p.Leu3600His) c.8063T>A (p.Leu2688His) c.6956T>A (p.Leu2319His) c.10982T>A (p.Leu3661His) c.6734T>A (p.Leu2245His) c.9962T>A (p.Leu3321His) | |
8 | g.99861833T>C | CA371790424 | VPS13B | c.*271T>C (n.*271T>C) n.11247T>C c.*6859T>C (n.*6859T>C) c.11102T>C (p.Leu3701Pro) c.11177T>C (p.Leu3726Pro) c.11174T>C (p.Leu3725Pro) c.11099T>C (p.Leu3700Pro) c.10799T>C (p.Leu3600Pro) c.8063T>C (p.Leu2688Pro) c.6956T>C (p.Leu2319Pro) c.10982T>C (p.Leu3661Pro) c.6734T>C (p.Leu2245Pro) c.9962T>C (p.Leu3321Pro) | |
8 | g.99861833T>G | CA371790426 | VPS13B | c.*271T>G (n.*271T>G) n.11247T>G c.*6859T>G (n.*6859T>G) c.11102T>G (p.Leu3701Arg) c.11177T>G (p.Leu3726Arg) c.11174T>G (p.Leu3725Arg) c.11099T>G (p.Leu3700Arg) c.10799T>G (p.Leu3600Arg) c.8063T>G (p.Leu2688Arg) c.6956T>G (p.Leu2319Arg) c.10982T>G (p.Leu3661Arg) c.6734T>G (p.Leu2245Arg) c.9962T>G (p.Leu3321Arg) | |
8 | g.99861834C>A | CA462338065 | VPS13B | c.*272C>A (n.*272C>A) n.11248C>A c.*6860C>A (n.*6860C>A) c.11103C>A (p.Leu3701=) c.11178C>A (p.Leu3726=) c.11175C>A (p.Leu3725=) c.11100C>A (p.Leu3700=) c.10800C>A (p.Leu3600=) c.8064C>A (p.Leu2688=) c.6957C>A (p.Leu2319=) c.10983C>A (p.Leu3661=) c.6735C>A (p.Leu2245=) c.9963C>A (p.Leu3321=) | ClinVar gnomAD v4 |
8 | g.99861834C>G | CA462338066 | VPS13B | c.*272C>G (n.*272C>G) n.11248C>G c.*6860C>G (n.*6860C>G) c.11103C>G (p.Leu3701=) c.11178C>G (p.Leu3726=) c.11175C>G (p.Leu3725=) c.11100C>G (p.Leu3700=) c.10800C>G (p.Leu3600=) c.8064C>G (p.Leu2688=) c.6957C>G (p.Leu2319=) c.10983C>G (p.Leu3661=) c.6735C>G (p.Leu2245=) c.9963C>G (p.Leu3321=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861834C>T | CA462338067 | VPS13B | c.*272C>T (n.*272C>T) n.11248C>T c.*6860C>T (n.*6860C>T) c.11103C>T (p.Leu3701=) c.11178C>T (p.Leu3726=) c.11175C>T (p.Leu3725=) c.11100C>T (p.Leu3700=) c.10800C>T (p.Leu3600=) c.8064C>T (p.Leu2688=) c.6957C>T (p.Leu2319=) c.10983C>T (p.Leu3661=) c.6735C>T (p.Leu2245=) c.9963C>T (p.Leu3321=) | |
8 | g.99861835T>A | CA371790428 | VPS13B | c.*273T>A (n.*273T>A) n.11249T>A c.*6861T>A (n.*6861T>A) c.11104T>A (p.Ser3702Thr) c.11179T>A (p.Ser3727Thr) c.11176T>A (p.Ser3726Thr) c.11101T>A (p.Ser3701Thr) c.10801T>A (p.Ser3601Thr) c.8065T>A (p.Ser2689Thr) c.6958T>A (p.Ser2320Thr) c.10984T>A (p.Ser3662Thr) c.6736T>A (p.Ser2246Thr) c.9964T>A (p.Ser3322Thr) | |
8 | g.99861835T>C | CA371790432 | VPS13B | c.*273T>C (n.*273T>C) n.11249T>C c.*6861T>C (n.*6861T>C) c.11104T>C (p.Ser3702Pro) c.11179T>C (p.Ser3727Pro) c.11176T>C (p.Ser3726Pro) c.11101T>C (p.Ser3701Pro) c.10801T>C (p.Ser3601Pro) c.8065T>C (p.Ser2689Pro) c.6958T>C (p.Ser2320Pro) c.10984T>C (p.Ser3662Pro) c.6736T>C (p.Ser2246Pro) c.9964T>C (p.Ser3322Pro) | |
8 | g.99861835T>G | CA371790430 | VPS13B | c.*273T>G (n.*273T>G) n.11249T>G c.*6861T>G (n.*6861T>G) c.11104T>G (p.Ser3702Ala) c.11179T>G (p.Ser3727Ala) c.11176T>G (p.Ser3726Ala) c.11101T>G (p.Ser3701Ala) c.10801T>G (p.Ser3601Ala) c.8065T>G (p.Ser2689Ala) c.6958T>G (p.Ser2320Ala) c.10984T>G (p.Ser3662Ala) c.6736T>G (p.Ser2246Ala) c.9964T>G (p.Ser3322Ala) | |
8 | g.99861836C>A | CA371790435 | VPS13B | c.*274C>A (n.*274C>A) n.11250C>A c.*6862C>A (n.*6862C>A) c.11105C>A (p.Ser3702Ter) c.11180C>A (p.Ser3727Ter) c.11177C>A (p.Ser3726Ter) c.11102C>A (p.Ser3701Ter) c.10802C>A (p.Ser3601Ter) c.8066C>A (p.Ser2689Ter) c.6959C>A (p.Ser2320Ter) c.10985C>A (p.Ser3662Ter) c.6737C>A (p.Ser2246Ter) c.9965C>A (p.Ser3322Ter) | |
8 | g.99861836C>G | CA371790438 | VPS13B | c.*274C>G (n.*274C>G) n.11250C>G c.*6862C>G (n.*6862C>G) c.11105C>G (p.Ser3702Ter) c.11180C>G (p.Ser3727Ter) c.11177C>G (p.Ser3726Ter) c.11102C>G (p.Ser3701Ter) c.10802C>G (p.Ser3601Ter) c.8066C>G (p.Ser2689Ter) c.6959C>G (p.Ser2320Ter) c.10985C>G (p.Ser3662Ter) c.6737C>G (p.Ser2246Ter) c.9965C>G (p.Ser3322Ter) | |
8 | g.99861836C>T | CA371790440 | VPS13B | c.*274C>T (n.*274C>T) n.11250C>T c.*6862C>T (n.*6862C>T) c.11105C>T (p.Ser3702Leu) c.11180C>T (p.Ser3727Leu) c.11177C>T (p.Ser3726Leu) c.11102C>T (p.Ser3701Leu) c.10802C>T (p.Ser3601Leu) c.8066C>T (p.Ser2689Leu) c.6959C>T (p.Ser2320Leu) c.10985C>T (p.Ser3662Leu) c.6737C>T (p.Ser2246Leu) c.9965C>T (p.Ser3322Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861836_99861845del | CA16041272 | VPS13B | c.*274_*283del (n.*274_*283del) n.11250_11259del c.*6862_*6871del (n.*6862_*6871del) c.11105_11114del (p.Ser3702TrpfsTer?) c.11180_11189del (p.Ser3727TrpfsTer?) c.11177_11186del (p.Ser3726TrpfsTer?) c.11102_11111del (p.Ser3701TrpfsTer?) c.10802_10811del (p.Ser3601TrpfsTer?) c.8066_8075del (p.Ser2689TrpfsTer?) c.6959_6968del (p.Ser2320TrpfsTer?) c.10985_10994del (p.Ser3662TrpfsTer?) c.6737_6746del (p.Ser2246TrpfsTer?) c.9965_9974del (p.Ser3322TrpfsTer?) | ClinVar dbSNP |
8 | g.99861837A>C | CA462338068 | VPS13B | c.*275A>C (n.*275A>C) n.11251A>C c.*6863A>C (n.*6863A>C) c.11106A>C (p.Ser3702=) c.11181A>C (p.Ser3727=) c.11178A>C (p.Ser3726=) c.11103A>C (p.Ser3701=) c.10803A>C (p.Ser3601=) c.8067A>C (p.Ser2689=) c.6960A>C (p.Ser2320=) c.10986A>C (p.Ser3662=) c.6738A>C (p.Ser2246=) c.9966A>C (p.Ser3322=) | |
8 | g.99861837A>G | CA462338069 | VPS13B | c.*275A>G (n.*275A>G) n.11251A>G c.*6863A>G (n.*6863A>G) c.11106A>G (p.Ser3702=) c.11181A>G (p.Ser3727=) c.11178A>G (p.Ser3726=) c.11103A>G (p.Ser3701=) c.10803A>G (p.Ser3601=) c.8067A>G (p.Ser2689=) c.6960A>G (p.Ser2320=) c.10986A>G (p.Ser3662=) c.6738A>G (p.Ser2246=) c.9966A>G (p.Ser3322=) | dbSNP gnomAD v4 |
8 | g.99861837A>T | CA462338070 | VPS13B | c.*275A>T (n.*275A>T) n.11251A>T c.*6863A>T (n.*6863A>T) c.11106A>T (p.Ser3702=) c.11181A>T (p.Ser3727=) c.11178A>T (p.Ser3726=) c.11103A>T (p.Ser3701=) c.10803A>T (p.Ser3601=) c.8067A>T (p.Ser2689=) c.6960A>T (p.Ser2320=) c.10986A>T (p.Ser3662=) c.6738A>T (p.Ser2246=) c.9966A>T (p.Ser3322=) | |
8 | g.99861838C>A | CA371790444 | VPS13B | c.*276C>A (n.*276C>A) n.11252C>A c.*6864C>A (n.*6864C>A) c.11107C>A (p.Leu3703Met) c.11182C>A (p.Leu3728Met) c.11179C>A (p.Leu3727Met) c.11104C>A (p.Leu3702Met) c.10804C>A (p.Leu3602Met) c.8068C>A (p.Leu2690Met) c.6961C>A (p.Leu2321Met) c.10987C>A (p.Leu3663Met) c.6739C>A (p.Leu2247Met) c.9967C>A (p.Leu3323Met) | gnomAD v4 |
8 | g.99861838C>G | CA371790446 | VPS13B | c.*276C>G (n.*276C>G) n.11252C>G c.*6864C>G (n.*6864C>G) c.11107C>G (p.Leu3703Val) c.11182C>G (p.Leu3728Val) c.11179C>G (p.Leu3727Val) c.11104C>G (p.Leu3702Val) c.10804C>G (p.Leu3602Val) c.8068C>G (p.Leu2690Val) c.6961C>G (p.Leu2321Val) c.10987C>G (p.Leu3663Val) c.6739C>G (p.Leu2247Val) c.9967C>G (p.Leu3323Val) | |
8 | g.99861838C>T | CA462338071 | VPS13B | c.*276C>T (n.*276C>T) n.11252C>T c.*6864C>T (n.*6864C>T) c.11107C>T (p.Leu3703=) c.11182C>T (p.Leu3728=) c.11179C>T (p.Leu3727=) c.11104C>T (p.Leu3702=) c.10804C>T (p.Leu3602=) c.8068C>T (p.Leu2690=) c.6961C>T (p.Leu2321=) c.10987C>T (p.Leu3663=) c.6739C>T (p.Leu2247=) c.9967C>T (p.Leu3323=) | |
8 | g.99861839T>A | CA371790448 | VPS13B | c.*277T>A (n.*277T>A) n.11253T>A c.*6865T>A (n.*6865T>A) c.11108T>A (p.Leu3703Gln) c.11183T>A (p.Leu3728Gln) c.11180T>A (p.Leu3727Gln) c.11105T>A (p.Leu3702Gln) c.10805T>A (p.Leu3602Gln) c.8069T>A (p.Leu2690Gln) c.6962T>A (p.Leu2321Gln) c.10988T>A (p.Leu3663Gln) c.6740T>A (p.Leu2247Gln) c.9968T>A (p.Leu3323Gln) | |
8 | g.99861839T>C | CA371790450 | VPS13B | c.*277T>C (n.*277T>C) n.11253T>C c.*6865T>C (n.*6865T>C) c.11108T>C (p.Leu3703Pro) c.11183T>C (p.Leu3728Pro) c.11180T>C (p.Leu3727Pro) c.11105T>C (p.Leu3702Pro) c.10805T>C (p.Leu3602Pro) c.8069T>C (p.Leu2690Pro) c.6962T>C (p.Leu2321Pro) c.10988T>C (p.Leu3663Pro) c.6740T>C (p.Leu2247Pro) c.9968T>C (p.Leu3323Pro) | gnomAD v4 |
8 | g.99861839T>G | CA371790451 | VPS13B | c.*277T>G (n.*277T>G) n.11253T>G c.*6865T>G (n.*6865T>G) c.11108T>G (p.Leu3703Arg) c.11183T>G (p.Leu3728Arg) c.11180T>G (p.Leu3727Arg) c.11105T>G (p.Leu3702Arg) c.10805T>G (p.Leu3602Arg) c.8069T>G (p.Leu2690Arg) c.6962T>G (p.Leu2321Arg) c.10988T>G (p.Leu3663Arg) c.6740T>G (p.Leu2247Arg) c.9968T>G (p.Leu3323Arg) | |
8 | g.99861840G>A | CA4825145 | VPS13B | c.*278G>A (n.*278G>A) n.11254G>A c.*6866G>A (n.*6866G>A) c.11109G>A (p.Leu3703=) c.11184G>A (p.Leu3728=) c.11181G>A (p.Leu3727=) c.11106G>A (p.Leu3702=) c.10806G>A (p.Leu3602=) c.8070G>A (p.Leu2690=) c.6963G>A (p.Leu2321=) c.10989G>A (p.Leu3663=) c.6741G>A (p.Leu2247=) c.9969G>A (p.Leu3323=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861840G>C | CA462338072 | VPS13B | c.*278G>C (n.*278G>C) n.11254G>C c.*6866G>C (n.*6866G>C) c.11109G>C (p.Leu3703=) c.11184G>C (p.Leu3728=) c.11181G>C (p.Leu3727=) c.11106G>C (p.Leu3702=) c.10806G>C (p.Leu3602=) c.8070G>C (p.Leu2690=) c.6963G>C (p.Leu2321=) c.10989G>C (p.Leu3663=) c.6741G>C (p.Leu2247=) c.9969G>C (p.Leu3323=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861840G>T | CA462338073 | VPS13B | c.*278G>T (n.*278G>T) n.11254G>T c.*6866G>T (n.*6866G>T) c.11109G>T (p.Leu3703=) c.11184G>T (p.Leu3728=) c.11181G>T (p.Leu3727=) c.11106G>T (p.Leu3702=) c.10806G>T (p.Leu3602=) c.8070G>T (p.Leu2690=) c.6963G>T (p.Leu2321=) c.10989G>T (p.Leu3663=) c.6741G>T (p.Leu2247=) c.9969G>T (p.Leu3323=) | gnomAD v4 |
8 | g.99861841G>A | CA371790457 | VPS13B | c.*279G>A (n.*279G>A) n.11255G>A c.*6867G>A (n.*6867G>A) c.11110G>A (p.Asp3704Asn) c.11185G>A (p.Asp3729Asn) c.11182G>A (p.Asp3728Asn) c.11107G>A (p.Asp3703Asn) c.10807G>A (p.Asp3603Asn) c.8071G>A (p.Asp2691Asn) c.6964G>A (p.Asp2322Asn) c.10990G>A (p.Asp3664Asn) c.6742G>A (p.Asp2248Asn) c.9970G>A (p.Asp3324Asn) | COSMIC COSMIC |
8 | g.99861841G>C | CA371790455 | VPS13B | c.*279G>C (n.*279G>C) n.11255G>C c.*6867G>C (n.*6867G>C) c.11110G>C (p.Asp3704His) c.11185G>C (p.Asp3729His) c.11182G>C (p.Asp3728His) c.11107G>C (p.Asp3703His) c.10807G>C (p.Asp3603His) c.8071G>C (p.Asp2691His) c.6964G>C (p.Asp2322His) c.10990G>C (p.Asp3664His) c.6742G>C (p.Asp2248His) c.9970G>C (p.Asp3324His) | |
8 | g.99861841G>T | CA371790453 | VPS13B | c.*279G>T (n.*279G>T) n.11255G>T c.*6867G>T (n.*6867G>T) c.11110G>T (p.Asp3704Tyr) c.11185G>T (p.Asp3729Tyr) c.11182G>T (p.Asp3728Tyr) c.11107G>T (p.Asp3703Tyr) c.10807G>T (p.Asp3603Tyr) c.8071G>T (p.Asp2691Tyr) c.6964G>T (p.Asp2322Tyr) c.10990G>T (p.Asp3664Tyr) c.6742G>T (p.Asp2248Tyr) c.9970G>T (p.Asp3324Tyr) | gnomAD v4 |
8 | g.99861842A>C | CA371790460 | VPS13B | c.*280A>C (n.*280A>C) n.11256A>C c.*6868A>C (n.*6868A>C) c.11111A>C (p.Asp3704Ala) c.11186A>C (p.Asp3729Ala) c.11183A>C (p.Asp3728Ala) c.11108A>C (p.Asp3703Ala) c.10808A>C (p.Asp3603Ala) c.8072A>C (p.Asp2691Ala) c.6965A>C (p.Asp2322Ala) c.10991A>C (p.Asp3664Ala) c.6743A>C (p.Asp2248Ala) c.9971A>C (p.Asp3324Ala) | |
8 | g.99861842A>G | CA371790461 | VPS13B | c.*280A>G (n.*280A>G) n.11256A>G c.*6868A>G (n.*6868A>G) c.11111A>G (p.Asp3704Gly) c.11186A>G (p.Asp3729Gly) c.11183A>G (p.Asp3728Gly) c.11108A>G (p.Asp3703Gly) c.10808A>G (p.Asp3603Gly) c.8072A>G (p.Asp2691Gly) c.6965A>G (p.Asp2322Gly) c.10991A>G (p.Asp3664Gly) c.6743A>G (p.Asp2248Gly) c.9971A>G (p.Asp3324Gly) | gnomAD v4 |
8 | g.99861842A>T | CA371790462 | VPS13B | c.*280A>T (n.*280A>T) n.11256A>T c.*6868A>T (n.*6868A>T) c.11111A>T (p.Asp3704Val) c.11186A>T (p.Asp3729Val) c.11183A>T (p.Asp3728Val) c.11108A>T (p.Asp3703Val) c.10808A>T (p.Asp3603Val) c.8072A>T (p.Asp2691Val) c.6965A>T (p.Asp2322Val) c.10991A>T (p.Asp3664Val) c.6743A>T (p.Asp2248Val) c.9971A>T (p.Asp3324Val) | |
8 | g.99861843T>A | CA371790465 | VPS13B | c.*281T>A (n.*281T>A) n.11257T>A c.*6869T>A (n.*6869T>A) c.11112T>A (p.Asp3704Glu) c.11187T>A (p.Asp3729Glu) c.11184T>A (p.Asp3728Glu) c.11109T>A (p.Asp3703Glu) c.10809T>A (p.Asp3603Glu) c.8073T>A (p.Asp2691Glu) c.6966T>A (p.Asp2322Glu) c.10992T>A (p.Asp3664Glu) c.6744T>A (p.Asp2248Glu) c.9972T>A (p.Asp3324Glu) | |
8 | g.99861843T>C | CA462338074 | VPS13B | c.*281T>C (n.*281T>C) n.11257T>C c.*6869T>C (n.*6869T>C) c.11112T>C (p.Asp3704=) c.11187T>C (p.Asp3729=) c.11184T>C (p.Asp3728=) c.11109T>C (p.Asp3703=) c.10809T>C (p.Asp3603=) c.8073T>C (p.Asp2691=) c.6966T>C (p.Asp2322=) c.10992T>C (p.Asp3664=) c.6744T>C (p.Asp2248=) c.9972T>C (p.Asp3324=) | |
8 | g.99861843T>G | CA371790467 | VPS13B | c.*281T>G (n.*281T>G) n.11257T>G c.*6869T>G (n.*6869T>G) c.11112T>G (p.Asp3704Glu) c.11187T>G (p.Asp3729Glu) c.11184T>G (p.Asp3728Glu) c.11109T>G (p.Asp3703Glu) c.10809T>G (p.Asp3603Glu) c.8073T>G (p.Asp2691Glu) c.6966T>G (p.Asp2322Glu) c.10992T>G (p.Asp3664Glu) c.6744T>G (p.Asp2248Glu) c.9972T>G (p.Asp3324Glu) | gnomAD v4 |
8 | g.99861844G>A | CA4825146 | VPS13B | c.*282G>A (n.*282G>A) n.11258G>A c.*6870G>A (n.*6870G>A) c.11113G>A (p.Glu3705Lys) c.11188G>A (p.Glu3730Lys) c.11185G>A (p.Glu3729Lys) c.11110G>A (p.Glu3704Lys) c.10810G>A (p.Glu3604Lys) c.8074G>A (p.Glu2692Lys) c.6967G>A (p.Glu2323Lys) c.10993G>A (p.Glu3665Lys) c.6745G>A (p.Glu2249Lys) c.9973G>A (p.Glu3325Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861844G>C | CA371790470 | VPS13B | c.*282G>C (n.*282G>C) n.11258G>C c.*6870G>C (n.*6870G>C) c.11113G>C (p.Glu3705Gln) c.11188G>C (p.Glu3730Gln) c.11185G>C (p.Glu3729Gln) c.11110G>C (p.Glu3704Gln) c.10810G>C (p.Glu3604Gln) c.8074G>C (p.Glu2692Gln) c.6967G>C (p.Glu2323Gln) c.10993G>C (p.Glu3665Gln) c.6745G>C (p.Glu2249Gln) c.9973G>C (p.Glu3325Gln) | |
8 | g.99861844G>T | CA182321424 | VPS13B | c.*282G>T (n.*282G>T) n.11258G>T c.*6870G>T (n.*6870G>T) c.11113G>T (p.Glu3705Ter) c.11188G>T (p.Glu3730Ter) c.11185G>T (p.Glu3729Ter) c.11110G>T (p.Glu3704Ter) c.10810G>T (p.Glu3604Ter) c.8074G>T (p.Glu2692Ter) c.6967G>T (p.Glu2323Ter) c.10993G>T (p.Glu3665Ter) c.6745G>T (p.Glu2249Ter) c.9973G>T (p.Glu3325Ter) | dbSNP gnomAD v4 |
8 | g.99861845A>C | CA371790474 | VPS13B | c.*283A>C (n.*283A>C) n.11259A>C c.*6871A>C (n.*6871A>C) c.11114A>C (p.Glu3705Ala) c.11189A>C (p.Glu3730Ala) c.11186A>C (p.Glu3729Ala) c.11111A>C (p.Glu3704Ala) c.10811A>C (p.Glu3604Ala) c.8075A>C (p.Glu2692Ala) c.6968A>C (p.Glu2323Ala) c.10994A>C (p.Glu3665Ala) c.6746A>C (p.Glu2249Ala) c.9974A>C (p.Glu3325Ala) | |
8 | g.99861845A>G | CA371790476 | VPS13B | c.*283A>G (n.*283A>G) n.11259A>G c.*6871A>G (n.*6871A>G) c.11114A>G (p.Glu3705Gly) c.11189A>G (p.Glu3730Gly) c.11186A>G (p.Glu3729Gly) c.11111A>G (p.Glu3704Gly) c.10811A>G (p.Glu3604Gly) c.8075A>G (p.Glu2692Gly) c.6968A>G (p.Glu2323Gly) c.10994A>G (p.Glu3665Gly) c.6746A>G (p.Glu2249Gly) c.9974A>G (p.Glu3325Gly) | |
8 | g.99861845A>T | CA4825147 | VPS13B | c.*283A>T (n.*283A>T) n.11259A>T c.*6871A>T (n.*6871A>T) c.11114A>T (p.Glu3705Val) c.11189A>T (p.Glu3730Val) c.11186A>T (p.Glu3729Val) c.11111A>T (p.Glu3704Val) c.10811A>T (p.Glu3604Val) c.8075A>T (p.Glu2692Val) c.6968A>T (p.Glu2323Val) c.10994A>T (p.Glu3665Val) c.6746A>T (p.Glu2249Val) c.9974A>T (p.Glu3325Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861846G>A | CA462338075 | VPS13B | c.*284G>A (n.*284G>A) n.11260G>A c.*6872G>A (n.*6872G>A) c.11115G>A (p.Glu3705=) c.11190G>A (p.Glu3730=) c.11187G>A (p.Glu3729=) c.11112G>A (p.Glu3704=) c.10812G>A (p.Glu3604=) c.8076G>A (p.Glu2692=) c.6969G>A (p.Glu2323=) c.10995G>A (p.Glu3665=) c.6747G>A (p.Glu2249=) c.9975G>A (p.Glu3325=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861846G>C | CA371790478 | VPS13B | c.*284G>C (n.*284G>C) n.11260G>C c.*6872G>C (n.*6872G>C) c.11115G>C (p.Glu3705Asp) c.11190G>C (p.Glu3730Asp) c.11187G>C (p.Glu3729Asp) c.11112G>C (p.Glu3704Asp) c.10812G>C (p.Glu3604Asp) c.8076G>C (p.Glu2692Asp) c.6969G>C (p.Glu2323Asp) c.10995G>C (p.Glu3665Asp) c.6747G>C (p.Glu2249Asp) c.9975G>C (p.Glu3325Asp) | |
8 | g.99861846G>T | CA371790480 | VPS13B | c.*284G>T (n.*284G>T) n.11260G>T c.*6872G>T (n.*6872G>T) c.11115G>T (p.Glu3705Asp) c.11190G>T (p.Glu3730Asp) c.11187G>T (p.Glu3729Asp) c.11112G>T (p.Glu3704Asp) c.10812G>T (p.Glu3604Asp) c.8076G>T (p.Glu2692Asp) c.6969G>T (p.Glu2323Asp) c.10995G>T (p.Glu3665Asp) c.6747G>T (p.Glu2249Asp) c.9975G>T (p.Glu3325Asp) | |
8 | g.99861847G>A | CA371790486 | VPS13B | c.*285G>A (n.*285G>A) n.11261G>A c.*6873G>A (n.*6873G>A) c.11116G>A (p.Glu3706Lys) c.11191G>A (p.Glu3731Lys) c.11188G>A (p.Glu3730Lys) c.11113G>A (p.Glu3705Lys) c.10813G>A (p.Glu3605Lys) c.8077G>A (p.Glu2693Lys) c.6970G>A (p.Glu2324Lys) c.10996G>A (p.Glu3666Lys) c.6748G>A (p.Glu2250Lys) c.9976G>A (p.Glu3326Lys) | gnomAD v4 |
8 | g.99861847G>C | CA371790484 | VPS13B | c.*285G>C (n.*285G>C) n.11261G>C c.*6873G>C (n.*6873G>C) c.11116G>C (p.Glu3706Gln) c.11191G>C (p.Glu3731Gln) c.11188G>C (p.Glu3730Gln) c.11113G>C (p.Glu3705Gln) c.10813G>C (p.Glu3605Gln) c.8077G>C (p.Glu2693Gln) c.6970G>C (p.Glu2324Gln) c.10996G>C (p.Glu3666Gln) c.6748G>C (p.Glu2250Gln) c.9976G>C (p.Glu3326Gln) | |
8 | g.99861847G>T | CA371790482 | VPS13B | c.*285G>T (n.*285G>T) n.11261G>T c.*6873G>T (n.*6873G>T) c.11116G>T (p.Glu3706Ter) c.11191G>T (p.Glu3731Ter) c.11188G>T (p.Glu3730Ter) c.11113G>T (p.Glu3705Ter) c.10813G>T (p.Glu3605Ter) c.8077G>T (p.Glu2693Ter) c.6970G>T (p.Glu2324Ter) c.10996G>T (p.Glu3666Ter) c.6748G>T (p.Glu2250Ter) c.9976G>T (p.Glu3326Ter) | |
8 | g.99861848A>C | CA371790487 | VPS13B | c.*286A>C (n.*286A>C) n.11262A>C c.*6874A>C (n.*6874A>C) c.11117A>C (p.Glu3706Ala) c.11192A>C (p.Glu3731Ala) c.11189A>C (p.Glu3730Ala) c.11114A>C (p.Glu3705Ala) c.10814A>C (p.Glu3605Ala) c.8078A>C (p.Glu2693Ala) c.6971A>C (p.Glu2324Ala) c.10997A>C (p.Glu3666Ala) c.6749A>C (p.Glu2250Ala) c.9977A>C (p.Glu3326Ala) | |
8 | g.99861848A>G | CA371790489 | VPS13B | c.*286A>G (n.*286A>G) n.11262A>G c.*6874A>G (n.*6874A>G) c.11117A>G (p.Glu3706Gly) c.11192A>G (p.Glu3731Gly) c.11189A>G (p.Glu3730Gly) c.11114A>G (p.Glu3705Gly) c.10814A>G (p.Glu3605Gly) c.8078A>G (p.Glu2693Gly) c.6971A>G (p.Glu2324Gly) c.10997A>G (p.Glu3666Gly) c.6749A>G (p.Glu2250Gly) c.9977A>G (p.Glu3326Gly) | gnomAD v4 |
8 | g.99861848A>T | CA371790491 | VPS13B | c.*286A>T (n.*286A>T) n.11262A>T c.*6874A>T (n.*6874A>T) c.11117A>T (p.Glu3706Val) c.11192A>T (p.Glu3731Val) c.11189A>T (p.Glu3730Val) c.11114A>T (p.Glu3705Val) c.10814A>T (p.Glu3605Val) c.8078A>T (p.Glu2693Val) c.6971A>T (p.Glu2324Val) c.10997A>T (p.Glu3666Val) c.6749A>T (p.Glu2250Val) c.9977A>T (p.Glu3326Val) | gnomAD v4 |
8 | g.99861849G>A | CA4825148 | VPS13B | c.*287G>A (n.*287G>A) n.11263G>A c.*6875G>A (n.*6875G>A) c.11118G>A (p.Glu3706=) c.11193G>A (p.Glu3731=) c.11190G>A (p.Glu3730=) c.11115G>A (p.Glu3705=) c.10815G>A (p.Glu3605=) c.8079G>A (p.Glu2693=) c.6972G>A (p.Glu2324=) c.10998G>A (p.Glu3666=) c.6750G>A (p.Glu2250=) c.9978G>A (p.Glu3326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861849G>C | CA371790495 | VPS13B | c.*287G>C (n.*287G>C) n.11263G>C c.*6875G>C (n.*6875G>C) c.11118G>C (p.Glu3706Asp) c.11193G>C (p.Glu3731Asp) c.11190G>C (p.Glu3730Asp) c.11115G>C (p.Glu3705Asp) c.10815G>C (p.Glu3605Asp) c.8079G>C (p.Glu2693Asp) c.6972G>C (p.Glu2324Asp) c.10998G>C (p.Glu3666Asp) c.6750G>C (p.Glu2250Asp) c.9978G>C (p.Glu3326Asp) | |
8 | g.99861849G>T | CA371790497 | VPS13B | c.*287G>T (n.*287G>T) n.11263G>T c.*6875G>T (n.*6875G>T) c.11118G>T (p.Glu3706Asp) c.11193G>T (p.Glu3731Asp) c.11190G>T (p.Glu3730Asp) c.11115G>T (p.Glu3705Asp) c.10815G>T (p.Glu3605Asp) c.8079G>T (p.Glu2693Asp) c.6972G>T (p.Glu2324Asp) c.10998G>T (p.Glu3666Asp) c.6750G>T (p.Glu2250Asp) c.9978G>T (p.Glu3326Asp) | gnomAD v4 |
8 | g.99861850C>A | CA371790499 | VPS13B | c.*288C>A (n.*288C>A) n.11264C>A c.*6876C>A (n.*6876C>A) c.11119C>A (p.His3707Asn) c.11194C>A (p.His3732Asn) c.11191C>A (p.His3731Asn) c.11116C>A (p.His3706Asn) c.10816C>A (p.His3606Asn) c.8080C>A (p.His2694Asn) c.6973C>A (p.His2325Asn) c.10999C>A (p.His3667Asn) c.6751C>A (p.His2251Asn) c.9979C>A (p.His3327Asn) | gnomAD v4 |
8 | g.99861850C>G | CA371790500 | VPS13B | c.*288C>G (n.*288C>G) n.11264C>G c.*6876C>G (n.*6876C>G) c.11119C>G (p.His3707Asp) c.11194C>G (p.His3732Asp) c.11191C>G (p.His3731Asp) c.11116C>G (p.His3706Asp) c.10816C>G (p.His3606Asp) c.8080C>G (p.His2694Asp) c.6973C>G (p.His2325Asp) c.10999C>G (p.His3667Asp) c.6751C>G (p.His2251Asp) c.9979C>G (p.His3327Asp) | |
8 | g.99861850C>T | CA371790502 | VPS13B | c.*288C>T (n.*288C>T) n.11264C>T c.*6876C>T (n.*6876C>T) c.11119C>T (p.His3707Tyr) c.11194C>T (p.His3732Tyr) c.11191C>T (p.His3731Tyr) c.11116C>T (p.His3706Tyr) c.10816C>T (p.His3606Tyr) c.8080C>T (p.His2694Tyr) c.6973C>T (p.His2325Tyr) c.10999C>T (p.His3667Tyr) c.6751C>T (p.His2251Tyr) c.9979C>T (p.His3327Tyr) | |
8 | g.99861851A>C | CA371790504 | VPS13B | c.*289A>C (n.*289A>C) n.11265A>C c.*6877A>C (n.*6877A>C) c.11120A>C (p.His3707Pro) c.11195A>C (p.His3732Pro) c.11192A>C (p.His3731Pro) c.11117A>C (p.His3706Pro) c.10817A>C (p.His3606Pro) c.8081A>C (p.His2694Pro) c.6974A>C (p.His2325Pro) c.11000A>C (p.His3667Pro) c.6752A>C (p.His2251Pro) c.9980A>C (p.His3327Pro) | |
8 | g.99861851A>G | CA371790506 | VPS13B | c.*289A>G (n.*289A>G) n.11265A>G c.*6877A>G (n.*6877A>G) c.11120A>G (p.His3707Arg) c.11195A>G (p.His3732Arg) c.11192A>G (p.His3731Arg) c.11117A>G (p.His3706Arg) c.10817A>G (p.His3606Arg) c.8081A>G (p.His2694Arg) c.6974A>G (p.His2325Arg) c.11000A>G (p.His3667Arg) c.6752A>G (p.His2251Arg) c.9980A>G (p.His3327Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861851A>T | CA371790508 | VPS13B | c.*289A>T (n.*289A>T) n.11265A>T c.*6877A>T (n.*6877A>T) c.11120A>T (p.His3707Leu) c.11195A>T (p.His3732Leu) c.11192A>T (p.His3731Leu) c.11117A>T (p.His3706Leu) c.10817A>T (p.His3606Leu) c.8081A>T (p.His2694Leu) c.6974A>T (p.His2325Leu) c.11000A>T (p.His3667Leu) c.6752A>T (p.His2251Leu) c.9980A>T (p.His3327Leu) | |
8 | g.99861852C>A | CA371790509 | VPS13B | c.*290C>A (n.*290C>A) n.11266C>A c.*6878C>A (n.*6878C>A) c.11121C>A (p.His3707Gln) c.11196C>A (p.His3732Gln) c.11193C>A (p.His3731Gln) c.11118C>A (p.His3706Gln) c.10818C>A (p.His3606Gln) c.8082C>A (p.His2694Gln) c.6975C>A (p.His2325Gln) c.11001C>A (p.His3667Gln) c.6753C>A (p.His2251Gln) c.9981C>A (p.His3327Gln) | gnomAD v4 |
8 | g.99861852C>G | CA371790511 | VPS13B | c.*290C>G (n.*290C>G) n.11266C>G c.*6878C>G (n.*6878C>G) c.11121C>G (p.His3707Gln) c.11196C>G (p.His3732Gln) c.11193C>G (p.His3731Gln) c.11118C>G (p.His3706Gln) c.10818C>G (p.His3606Gln) c.8082C>G (p.His2694Gln) c.6975C>G (p.His2325Gln) c.11001C>G (p.His3667Gln) c.6753C>G (p.His2251Gln) c.9981C>G (p.His3327Gln) | |
8 | g.99861852C>T | CA462338076 | VPS13B | c.*290C>T (n.*290C>T) n.11266C>T c.*6878C>T (n.*6878C>T) c.11121C>T (p.His3707=) c.11196C>T (p.His3732=) c.11193C>T (p.His3731=) c.11118C>T (p.His3706=) c.10818C>T (p.His3606=) c.8082C>T (p.His2694=) c.6975C>T (p.His2325=) c.11001C>T (p.His3667=) c.6753C>T (p.His2251=) c.9981C>T (p.His3327=) | gnomAD v4 |
8 | g.99861853T>A | CA371790515 | VPS13B | c.*291T>A (n.*291T>A) n.11267T>A c.*6879T>A (n.*6879T>A) c.11122T>A (p.Tyr3708Asn) c.11197T>A (p.Tyr3733Asn) c.11194T>A (p.Tyr3732Asn) c.11119T>A (p.Tyr3707Asn) c.10819T>A (p.Tyr3607Asn) c.8083T>A (p.Tyr2695Asn) c.6976T>A (p.Tyr2326Asn) c.11002T>A (p.Tyr3668Asn) c.6754T>A (p.Tyr2252Asn) c.9982T>A (p.Tyr3328Asn) | |
8 | g.99861853T>C | CA371790516 | VPS13B | c.*291T>C (n.*291T>C) n.11267T>C c.*6879T>C (n.*6879T>C) c.11122T>C (p.Tyr3708His) c.11197T>C (p.Tyr3733His) c.11194T>C (p.Tyr3732His) c.11119T>C (p.Tyr3707His) c.10819T>C (p.Tyr3607His) c.8083T>C (p.Tyr2695His) c.6976T>C (p.Tyr2326His) c.11002T>C (p.Tyr3668His) c.6754T>C (p.Tyr2252His) c.9982T>C (p.Tyr3328His) | gnomAD v4 |
8 | g.99861853T>G | CA371790514 | VPS13B | c.*291T>G (n.*291T>G) n.11267T>G c.*6879T>G (n.*6879T>G) c.11122T>G (p.Tyr3708Asp) c.11197T>G (p.Tyr3733Asp) c.11194T>G (p.Tyr3732Asp) c.11119T>G (p.Tyr3707Asp) c.10819T>G (p.Tyr3607Asp) c.8083T>G (p.Tyr2695Asp) c.6976T>G (p.Tyr2326Asp) c.11002T>G (p.Tyr3668Asp) c.6754T>G (p.Tyr2252Asp) c.9982T>G (p.Tyr3328Asp) | |
8 | g.99861854A>C | CA371790517 | VPS13B | c.*292A>C (n.*292A>C) n.11268A>C c.*6880A>C (n.*6880A>C) c.11123A>C (p.Tyr3708Ser) c.11198A>C (p.Tyr3733Ser) c.11195A>C (p.Tyr3732Ser) c.11120A>C (p.Tyr3707Ser) c.10820A>C (p.Tyr3607Ser) c.8084A>C (p.Tyr2695Ser) c.6977A>C (p.Tyr2326Ser) c.11003A>C (p.Tyr3668Ser) c.6755A>C (p.Tyr2252Ser) c.9983A>C (p.Tyr3328Ser) | |
8 | g.99861854A>G | CA371790520 | VPS13B | c.*292A>G (n.*292A>G) n.11268A>G c.*6880A>G (n.*6880A>G) c.11123A>G (p.Tyr3708Cys) c.11198A>G (p.Tyr3733Cys) c.11195A>G (p.Tyr3732Cys) c.11120A>G (p.Tyr3707Cys) c.10820A>G (p.Tyr3607Cys) c.8084A>G (p.Tyr2695Cys) c.6977A>G (p.Tyr2326Cys) c.11003A>G (p.Tyr3668Cys) c.6755A>G (p.Tyr2252Cys) c.9983A>G (p.Tyr3328Cys) | dbSNP |
8 | g.99861854A>T | CA371790522 | VPS13B | c.*292A>T (n.*292A>T) n.11268A>T c.*6880A>T (n.*6880A>T) c.11123A>T (p.Tyr3708Phe) c.11198A>T (p.Tyr3733Phe) c.11195A>T (p.Tyr3732Phe) c.11120A>T (p.Tyr3707Phe) c.10820A>T (p.Tyr3607Phe) c.8084A>T (p.Tyr2695Phe) c.6977A>T (p.Tyr2326Phe) c.11003A>T (p.Tyr3668Phe) c.6755A>T (p.Tyr2252Phe) c.9983A>T (p.Tyr3328Phe) | |
8 | g.99861855C>A | CA371790524 | VPS13B | c.*293C>A (n.*293C>A) n.11269C>A c.*6881C>A (n.*6881C>A) c.11124C>A (p.Tyr3708Ter) c.11199C>A (p.Tyr3733Ter) c.11196C>A (p.Tyr3732Ter) c.11121C>A (p.Tyr3707Ter) c.10821C>A (p.Tyr3607Ter) c.8085C>A (p.Tyr2695Ter) c.6978C>A (p.Tyr2326Ter) c.11004C>A (p.Tyr3668Ter) c.6756C>A (p.Tyr2252Ter) c.9984C>A (p.Tyr3328Ter) | gnomAD v4 |
8 | g.99861855C>G | CA371790526 | VPS13B | c.*293C>G (n.*293C>G) n.11269C>G c.*6881C>G (n.*6881C>G) c.11124C>G (p.Tyr3708Ter) c.11199C>G (p.Tyr3733Ter) c.11196C>G (p.Tyr3732Ter) c.11121C>G (p.Tyr3707Ter) c.10821C>G (p.Tyr3607Ter) c.8085C>G (p.Tyr2695Ter) c.6978C>G (p.Tyr2326Ter) c.11004C>G (p.Tyr3668Ter) c.6756C>G (p.Tyr2252Ter) c.9984C>G (p.Tyr3328Ter) | ClinVar dbSNP |
8 | g.99861855C>T | CA462338079 | VPS13B | c.*293C>T (n.*293C>T) n.11269C>T c.*6881C>T (n.*6881C>T) c.11124C>T (p.Tyr3708=) c.11199C>T (p.Tyr3733=) c.11196C>T (p.Tyr3732=) c.11121C>T (p.Tyr3707=) c.10821C>T (p.Tyr3607=) c.8085C>T (p.Tyr2695=) c.6978C>T (p.Tyr2326=) c.11004C>T (p.Tyr3668=) c.6756C>T (p.Tyr2252=) c.9984C>T (p.Tyr3328=) | ClinVar dbSNP |
8 | g.99861855_99861856delinsT | CA16618724 | VPS13B | c.*293_*294delinsT (n.*293_*294delinsT) n.11269_11270delinsT c.*6881_*6882delinsT (n.*6881_*6882delinsT) c.11124_11125delinsT (p.Asn3709ThrfsTer?) c.11199_11200delinsT (p.Asn3734ThrfsTer?) c.11196_11197delinsT (p.Asn3733ThrfsTer?) c.11121_11122delinsT (p.Asn3708ThrfsTer?) c.10821_10822delinsT (p.Asn3608ThrfsTer?) c.8085_8086delinsT (p.Asn2696ThrfsTer?) c.6978_6979delinsT (p.Asn2327ThrfsTer?) c.11004_11005delinsT (p.Asn3669ThrfsTer?) c.6756_6757delinsT (p.Asn2253ThrfsTer?) c.9984_9985delinsT (p.Asn3329ThrfsTer?) | ClinVar dbSNP |
8 | g.99861856A>C | CA371790529 | VPS13B | c.*294A>C (n.*294A>C) n.11270A>C c.*6882A>C (n.*6882A>C) c.11125A>C (p.Asn3709His) c.11200A>C (p.Asn3734His) c.11197A>C (p.Asn3733His) c.11122A>C (p.Asn3708His) c.10822A>C (p.Asn3608His) c.8086A>C (p.Asn2696His) c.6979A>C (p.Asn2327His) c.11005A>C (p.Asn3669His) c.6757A>C (p.Asn2253His) c.9985A>C (p.Asn3329His) | |
8 | g.99861856A>G | CA371790531 | VPS13B | c.*294A>G (n.*294A>G) n.11270A>G c.*6882A>G (n.*6882A>G) c.11125A>G (p.Asn3709Asp) c.11200A>G (p.Asn3734Asp) c.11197A>G (p.Asn3733Asp) c.11122A>G (p.Asn3708Asp) c.10822A>G (p.Asn3608Asp) c.8086A>G (p.Asn2696Asp) c.6979A>G (p.Asn2327Asp) c.11005A>G (p.Asn3669Asp) c.6757A>G (p.Asn2253Asp) c.9985A>G (p.Asn3329Asp) | |
8 | g.99861856A>T | CA371790532 | VPS13B | c.*294A>T (n.*294A>T) n.11270A>T c.*6882A>T (n.*6882A>T) c.11125A>T (p.Asn3709Tyr) c.11200A>T (p.Asn3734Tyr) c.11197A>T (p.Asn3733Tyr) c.11122A>T (p.Asn3708Tyr) c.10822A>T (p.Asn3608Tyr) c.8086A>T (p.Asn2696Tyr) c.6979A>T (p.Asn2327Tyr) c.11005A>T (p.Asn3669Tyr) c.6757A>T (p.Asn2253Tyr) c.9985A>T (p.Asn3329Tyr) | |
8 | g.99861857A>C | CA371790534 | VPS13B | c.*295A>C (n.*295A>C) n.11271A>C c.*6883A>C (n.*6883A>C) c.11126A>C (p.Asn3709Thr) c.11201A>C (p.Asn3734Thr) c.11198A>C (p.Asn3733Thr) c.11123A>C (p.Asn3708Thr) c.10823A>C (p.Asn3608Thr) c.8087A>C (p.Asn2696Thr) c.6980A>C (p.Asn2327Thr) c.11006A>C (p.Asn3669Thr) c.6758A>C (p.Asn2253Thr) c.9986A>C (p.Asn3329Thr) | |
8 | g.99861857A>G | CA371790536 | VPS13B | c.*295A>G (n.*295A>G) n.11271A>G c.*6883A>G (n.*6883A>G) c.11126A>G (p.Asn3709Ser) c.11201A>G (p.Asn3734Ser) c.11198A>G (p.Asn3733Ser) c.11123A>G (p.Asn3708Ser) c.10823A>G (p.Asn3608Ser) c.8087A>G (p.Asn2696Ser) c.6980A>G (p.Asn2327Ser) c.11006A>G (p.Asn3669Ser) c.6758A>G (p.Asn2253Ser) c.9986A>G (p.Asn3329Ser) | gnomAD v4 |
8 | g.99861857A>T | CA371790538 | VPS13B | c.*295A>T (n.*295A>T) n.11271A>T c.*6883A>T (n.*6883A>T) c.11126A>T (p.Asn3709Ile) c.11201A>T (p.Asn3734Ile) c.11198A>T (p.Asn3733Ile) c.11123A>T (p.Asn3708Ile) c.10823A>T (p.Asn3608Ile) c.8087A>T (p.Asn2696Ile) c.6980A>T (p.Asn2327Ile) c.11006A>T (p.Asn3669Ile) c.6758A>T (p.Asn2253Ile) c.9986A>T (p.Asn3329Ile) | |
8 | g.99861858C>A | CA4825149 | VPS13B | c.*296C>A (n.*296C>A) n.11272C>A c.*6884C>A (n.*6884C>A) c.11127C>A (p.Asn3709Lys) c.11202C>A (p.Asn3734Lys) c.11199C>A (p.Asn3733Lys) c.11124C>A (p.Asn3708Lys) c.10824C>A (p.Asn3608Lys) c.8088C>A (p.Asn2696Lys) c.6981C>A (p.Asn2327Lys) c.11007C>A (p.Asn3669Lys) c.6759C>A (p.Asn2253Lys) c.9987C>A (p.Asn3329Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861858C>G | CA371790542 | VPS13B | c.*296C>G (n.*296C>G) n.11272C>G c.*6884C>G (n.*6884C>G) c.11127C>G (p.Asn3709Lys) c.11202C>G (p.Asn3734Lys) c.11199C>G (p.Asn3733Lys) c.11124C>G (p.Asn3708Lys) c.10824C>G (p.Asn3608Lys) c.8088C>G (p.Asn2696Lys) c.6981C>G (p.Asn2327Lys) c.11007C>G (p.Asn3669Lys) c.6759C>G (p.Asn2253Lys) c.9987C>G (p.Asn3329Lys) | |
8 | g.99861858C>T | CA462338084 | VPS13B | c.*296C>T (n.*296C>T) n.11272C>T c.*6884C>T (n.*6884C>T) c.11127C>T (p.Asn3709=) c.11202C>T (p.Asn3734=) c.11199C>T (p.Asn3733=) c.11124C>T (p.Asn3708=) c.10824C>T (p.Asn3608=) c.8088C>T (p.Asn2696=) c.6981C>T (p.Asn2327=) c.11007C>T (p.Asn3669=) c.6759C>T (p.Asn2253=) c.9987C>T (p.Asn3329=) | |
8 | g.99861859C>A | CA462338089 | VPS13B | c.*297C>A (n.*297C>A) n.11273C>A c.*6885C>A (n.*6885C>A) c.11128C>A (p.Arg3710=) c.11203C>A (p.Arg3735=) c.11200C>A (p.Arg3734=) c.11125C>A (p.Arg3709=) c.10825C>A (p.Arg3609=) c.8089C>A (p.Arg2697=) c.6982C>A (p.Arg2328=) c.11008C>A (p.Arg3670=) c.6760C>A (p.Arg2254=) c.9988C>A (p.Arg3330=) | gnomAD v4 COSMIC COSMIC |
8 | g.99861859C>G | CA371790545 | VPS13B | c.*297C>G (n.*297C>G) n.11273C>G c.*6885C>G (n.*6885C>G) c.11128C>G (p.Arg3710Gly) c.11203C>G (p.Arg3735Gly) c.11200C>G (p.Arg3734Gly) c.11125C>G (p.Arg3709Gly) c.10825C>G (p.Arg3609Gly) c.8089C>G (p.Arg2697Gly) c.6982C>G (p.Arg2328Gly) c.11008C>G (p.Arg3670Gly) c.6760C>G (p.Arg2254Gly) c.9988C>G (p.Arg3330Gly) | |
8 | g.99861859C>T | CA4825150 | VPS13B | c.*297C>T (n.*297C>T) n.11273C>T c.*6885C>T (n.*6885C>T) c.11128C>T (p.Arg3710Trp) c.11203C>T (p.Arg3735Trp) c.11200C>T (p.Arg3734Trp) c.11125C>T (p.Arg3709Trp) c.10825C>T (p.Arg3609Trp) c.8089C>T (p.Arg2697Trp) c.6982C>T (p.Arg2328Trp) c.11008C>T (p.Arg3670Trp) c.6760C>T (p.Arg2254Trp) c.9988C>T (p.Arg3330Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861860G>A | CA182321452 | VPS13B | c.*298G>A (n.*298G>A) n.11274G>A c.*6886G>A (n.*6886G>A) c.11129G>A (p.Arg3710Gln) c.11204G>A (p.Arg3735Gln) c.11201G>A (p.Arg3734Gln) c.11126G>A (p.Arg3709Gln) c.10826G>A (p.Arg3609Gln) c.8090G>A (p.Arg2697Gln) c.6983G>A (p.Arg2328Gln) c.11009G>A (p.Arg3670Gln) c.6761G>A (p.Arg2254Gln) c.9989G>A (p.Arg3330Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861860G>C | CA182321460 | VPS13B | c.*298G>C (n.*298G>C) n.11274G>C c.*6886G>C (n.*6886G>C) c.11129G>C (p.Arg3710Pro) c.11204G>C (p.Arg3735Pro) c.11201G>C (p.Arg3734Pro) c.11126G>C (p.Arg3709Pro) c.10826G>C (p.Arg3609Pro) c.8090G>C (p.Arg2697Pro) c.6983G>C (p.Arg2328Pro) c.11009G>C (p.Arg3670Pro) c.6761G>C (p.Arg2254Pro) c.9989G>C (p.Arg3330Pro) | dbSNP |
8 | g.99861860G>T | CA371790550 | VPS13B | c.*298G>T (n.*298G>T) n.11274G>T c.*6886G>T (n.*6886G>T) c.11129G>T (p.Arg3710Leu) c.11204G>T (p.Arg3735Leu) c.11201G>T (p.Arg3734Leu) c.11126G>T (p.Arg3709Leu) c.10826G>T (p.Arg3609Leu) c.8090G>T (p.Arg2697Leu) c.6983G>T (p.Arg2328Leu) c.11009G>T (p.Arg3670Leu) c.6761G>T (p.Arg2254Leu) c.9989G>T (p.Arg3330Leu) | gnomAD v4 |
8 | g.99861862_99861865del | CA913128146 | VPS13B | c.*300_*303del (n.*300_*303del) n.11276_11279del c.*6888_*6891del (n.*6888_*6891del) c.11131_11134del (p.Gln3711ArgfsTer?) c.11206_11209del (p.Gln3736ArgfsTer?) c.11203_11206del (p.Gln3735ArgfsTer?) c.11128_11131del (p.Gln3710ArgfsTer?) c.10828_10831del (p.Gln3610ArgfsTer?) c.8092_8095del (p.Gln2698ArgfsTer?) c.6985_6988del (p.Gln2329ArgfsTer?) c.11011_11014del (p.Gln3671ArgfsTer?) c.6763_6766del (p.Gln2255ArgfsTer?) c.9991_9994del (p.Gln3331ArgfsTer?) | |
8 | g.99861861G>A | CA462338098 | VPS13B | c.*299G>A (n.*299G>A) n.11275G>A c.*6887G>A (n.*6887G>A) c.11130G>A (p.Arg3710=) c.11205G>A (p.Arg3735=) c.11202G>A (p.Arg3734=) c.11127G>A (p.Arg3709=) c.10827G>A (p.Arg3609=) c.8091G>A (p.Arg2697=) c.6984G>A (p.Arg2328=) c.11010G>A (p.Arg3670=) c.6762G>A (p.Arg2254=) c.9990G>A (p.Arg3330=) | gnomAD v4 |
8 | g.99861861G>C | CA462338101 | VPS13B | c.*299G>C (n.*299G>C) n.11275G>C c.*6887G>C (n.*6887G>C) c.11130G>C (p.Arg3710=) c.11205G>C (p.Arg3735=) c.11202G>C (p.Arg3734=) c.11127G>C (p.Arg3709=) c.10827G>C (p.Arg3609=) c.8091G>C (p.Arg2697=) c.6984G>C (p.Arg2328=) c.11010G>C (p.Arg3670=) c.6762G>C (p.Arg2254=) c.9990G>C (p.Arg3330=) | |
8 | g.99861861G>T | CA462338104 | VPS13B | c.*299G>T (n.*299G>T) n.11275G>T c.*6887G>T (n.*6887G>T) c.11130G>T (p.Arg3710=) c.11205G>T (p.Arg3735=) c.11202G>T (p.Arg3734=) c.11127G>T (p.Arg3709=) c.10827G>T (p.Arg3609=) c.8091G>T (p.Arg2697=) c.6984G>T (p.Arg2328=) c.11010G>T (p.Arg3670=) c.6762G>T (p.Arg2254=) c.9990G>T (p.Arg3330=) | gnomAD v4 |
8 | g.99861862C>A | CA371790552 | VPS13B | c.*300C>A (n.*300C>A) n.11276C>A c.*6888C>A (n.*6888C>A) c.11131C>A (p.Gln3711Lys) c.11206C>A (p.Gln3736Lys) c.11203C>A (p.Gln3735Lys) c.11128C>A (p.Gln3710Lys) c.10828C>A (p.Gln3610Lys) c.8092C>A (p.Gln2698Lys) c.6985C>A (p.Gln2329Lys) c.11011C>A (p.Gln3671Lys) c.6763C>A (p.Gln2255Lys) c.9991C>A (p.Gln3331Lys) | gnomAD v4 |
8 | g.99861862C>G | CA371790554 | VPS13B | c.*300C>G (n.*300C>G) n.11276C>G c.*6888C>G (n.*6888C>G) c.11131C>G (p.Gln3711Glu) c.11206C>G (p.Gln3736Glu) c.11203C>G (p.Gln3735Glu) c.11128C>G (p.Gln3710Glu) c.10828C>G (p.Gln3610Glu) c.8092C>G (p.Gln2698Glu) c.6985C>G (p.Gln2329Glu) c.11011C>G (p.Gln3671Glu) c.6763C>G (p.Gln2255Glu) c.9991C>G (p.Gln3331Glu) | |
8 | g.99861862C>T | CA371790555 | VPS13B | c.*300C>T (n.*300C>T) n.11276C>T c.*6888C>T (n.*6888C>T) c.11131C>T (p.Gln3711Ter) c.11206C>T (p.Gln3736Ter) c.11203C>T (p.Gln3735Ter) c.11128C>T (p.Gln3710Ter) c.10828C>T (p.Gln3610Ter) c.8092C>T (p.Gln2698Ter) c.6985C>T (p.Gln2329Ter) c.11011C>T (p.Gln3671Ter) c.6763C>T (p.Gln2255Ter) c.9991C>T (p.Gln3331Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861862_99861863insTGG | CA2688071998 | VPS13B | c.*300_*301insTGG (n.*300_*301insTGG) n.11276_11277insTGG c.*6888_*6889insTGG (n.*6888_*6889insTGG) c.11131_11132insTGG (p.Gln3711delinsLeuGlu) c.11206_11207insTGG (p.Gln3736delinsLeuGlu) c.11203_11204insTGG (p.Gln3735delinsLeuGlu) c.11128_11129insTGG (p.Gln3710delinsLeuGlu) c.10828_10829insTGG (p.Gln3610delinsLeuGlu) c.8092_8093insTGG (p.Gln2698delinsLeuGlu) c.6985_6986insTGG (p.Gln2329delinsLeuGlu) c.11011_11012insTGG (p.Gln3671delinsLeuGlu) c.6763_6764insTGG (p.Gln2255delinsLeuGlu) c.9991_9992insTGG (p.Gln3331delinsLeuGlu) | gnomAD v4 |
8 | g.99861863A>C | CA371790557 | VPS13B | c.*301A>C (n.*301A>C) n.11277A>C c.*6889A>C (n.*6889A>C) c.11132A>C (p.Gln3711Pro) c.11207A>C (p.Gln3736Pro) c.11204A>C (p.Gln3735Pro) c.11129A>C (p.Gln3710Pro) c.10829A>C (p.Gln3610Pro) c.8093A>C (p.Gln2698Pro) c.6986A>C (p.Gln2329Pro) c.11012A>C (p.Gln3671Pro) c.6764A>C (p.Gln2255Pro) c.9992A>C (p.Gln3331Pro) | |
8 | g.99861863A>G | CA371790560 | VPS13B | c.*301A>G (n.*301A>G) n.11277A>G c.*6889A>G (n.*6889A>G) c.11132A>G (p.Gln3711Arg) c.11207A>G (p.Gln3736Arg) c.11204A>G (p.Gln3735Arg) c.11129A>G (p.Gln3710Arg) c.10829A>G (p.Gln3610Arg) c.8093A>G (p.Gln2698Arg) c.6986A>G (p.Gln2329Arg) c.11012A>G (p.Gln3671Arg) c.6764A>G (p.Gln2255Arg) c.9992A>G (p.Gln3331Arg) | |
8 | g.99861863A>T | CA371790561 | VPS13B | c.*301A>T (n.*301A>T) n.11277A>T c.*6889A>T (n.*6889A>T) c.11132A>T (p.Gln3711Leu) c.11207A>T (p.Gln3736Leu) c.11204A>T (p.Gln3735Leu) c.11129A>T (p.Gln3710Leu) c.10829A>T (p.Gln3610Leu) c.8093A>T (p.Gln2698Leu) c.6986A>T (p.Gln2329Leu) c.11012A>T (p.Gln3671Leu) c.6764A>T (p.Gln2255Leu) c.9992A>T (p.Gln3331Leu) | |
8 | g.99861868_99861870del | CA4825151 | VPS13B | c.*306_*308del (n.*306_*308del) n.11282_11284del c.*6894_*6896del (n.*6894_*6896del) c.11137_11139del (p.Glu3713del) c.11212_11214del (p.Glu3738del) c.11209_11211del (p.Glu3737del) c.11134_11136del (p.Glu3712del) c.10834_10836del (p.Glu3612del) c.8098_8100del (p.Glu2700del) c.6991_6993del (p.Glu2331del) c.11017_11019del (p.Glu3673del) c.6769_6771del (p.Glu2257del) c.9997_9999del (p.Glu3333del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861864G>A | CA462338139 | VPS13B | c.*302G>A (n.*302G>A) n.11278G>A c.*6890G>A (n.*6890G>A) c.11133G>A (p.Gln3711=) c.11208G>A (p.Gln3736=) c.11205G>A (p.Gln3735=) c.11130G>A (p.Gln3710=) c.10830G>A (p.Gln3610=) c.8094G>A (p.Gln2698=) c.6987G>A (p.Gln2329=) c.11013G>A (p.Gln3671=) c.6765G>A (p.Gln2255=) c.9993G>A (p.Gln3331=) | dbSNP gnomAD v4 |
8 | g.99861864G>C | CA371790566 | VPS13B | c.*302G>C (n.*302G>C) n.11278G>C c.*6890G>C (n.*6890G>C) c.11133G>C (p.Gln3711His) c.11208G>C (p.Gln3736His) c.11205G>C (p.Gln3735His) c.11130G>C (p.Gln3710His) c.10830G>C (p.Gln3610His) c.8094G>C (p.Gln2698His) c.6987G>C (p.Gln2329His) c.11013G>C (p.Gln3671His) c.6765G>C (p.Gln2255His) c.9993G>C (p.Gln3331His) | |
8 | g.99861864G>T | CA371790568 | VPS13B | c.*302G>T (n.*302G>T) n.11278G>T c.*6890G>T (n.*6890G>T) c.11133G>T (p.Gln3711His) c.11208G>T (p.Gln3736His) c.11205G>T (p.Gln3735His) c.11130G>T (p.Gln3710His) c.10830G>T (p.Gln3610His) c.8094G>T (p.Gln2698His) c.6987G>T (p.Gln2329His) c.11013G>T (p.Gln3671His) c.6765G>T (p.Gln2255His) c.9993G>T (p.Gln3331His) | gnomAD v4 |
8 | g.99861865G>A | CA371790569 | VPS13B | c.*303G>A (n.*303G>A) n.11279G>A c.*6891G>A (n.*6891G>A) c.11134G>A (p.Glu3712Lys) c.11209G>A (p.Glu3737Lys) c.11206G>A (p.Glu3736Lys) c.11131G>A (p.Glu3711Lys) c.10831G>A (p.Glu3611Lys) c.8095G>A (p.Glu2699Lys) c.6988G>A (p.Glu2330Lys) c.11014G>A (p.Glu3672Lys) c.6766G>A (p.Glu2256Lys) c.9994G>A (p.Glu3332Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861865G>C | CA371790572 | VPS13B | c.*303G>C (n.*303G>C) n.11279G>C c.*6891G>C (n.*6891G>C) c.11134G>C (p.Glu3712Gln) c.11209G>C (p.Glu3737Gln) c.11206G>C (p.Glu3736Gln) c.11131G>C (p.Glu3711Gln) c.10831G>C (p.Glu3611Gln) c.8095G>C (p.Glu2699Gln) c.6988G>C (p.Glu2330Gln) c.11014G>C (p.Glu3672Gln) c.6766G>C (p.Glu2256Gln) c.9994G>C (p.Glu3332Gln) | |
8 | g.99861865G>T | CA371790571 | VPS13B | c.*303G>T (n.*303G>T) n.11279G>T c.*6891G>T (n.*6891G>T) c.11134G>T (p.Glu3712Ter) c.11209G>T (p.Glu3737Ter) c.11206G>T (p.Glu3736Ter) c.11131G>T (p.Glu3711Ter) c.10831G>T (p.Glu3611Ter) c.8095G>T (p.Glu2699Ter) c.6988G>T (p.Glu2330Ter) c.11014G>T (p.Glu3672Ter) c.6766G>T (p.Glu2256Ter) c.9994G>T (p.Glu3332Ter) | |
8 | g.99861866A>C | CA371790573 | VPS13B | c.*304A>C (n.*304A>C) n.11280A>C c.*6892A>C (n.*6892A>C) c.11135A>C (p.Glu3712Ala) c.11210A>C (p.Glu3737Ala) c.11207A>C (p.Glu3736Ala) c.11132A>C (p.Glu3711Ala) c.10832A>C (p.Glu3611Ala) c.8096A>C (p.Glu2699Ala) c.6989A>C (p.Glu2330Ala) c.11015A>C (p.Glu3672Ala) c.6767A>C (p.Glu2256Ala) c.9995A>C (p.Glu3332Ala) | |
8 | g.99861866A>G | CA371790578 | VPS13B | c.*304A>G (n.*304A>G) n.11280A>G c.*6892A>G (n.*6892A>G) c.11135A>G (p.Glu3712Gly) c.11210A>G (p.Glu3737Gly) c.11207A>G (p.Glu3736Gly) c.11132A>G (p.Glu3711Gly) c.10832A>G (p.Glu3611Gly) c.8096A>G (p.Glu2699Gly) c.6989A>G (p.Glu2330Gly) c.11015A>G (p.Glu3672Gly) c.6767A>G (p.Glu2256Gly) c.9995A>G (p.Glu3332Gly) | |
8 | g.99861866A>T | CA371790576 | VPS13B | c.*304A>T (n.*304A>T) n.11280A>T c.*6892A>T (n.*6892A>T) c.11135A>T (p.Glu3712Val) c.11210A>T (p.Glu3737Val) c.11207A>T (p.Glu3736Val) c.11132A>T (p.Glu3711Val) c.10832A>T (p.Glu3611Val) c.8096A>T (p.Glu2699Val) c.6989A>T (p.Glu2330Val) c.11015A>T (p.Glu3672Val) c.6767A>T (p.Glu2256Val) c.9995A>T (p.Glu3332Val) | gnomAD v4 |
8 | g.99861867G>A | CA462338154 | VPS13B | c.*305G>A (n.*305G>A) n.11281G>A c.*6893G>A (n.*6893G>A) c.11136G>A (p.Glu3712=) c.11211G>A (p.Glu3737=) c.11208G>A (p.Glu3736=) c.11133G>A (p.Glu3711=) c.10833G>A (p.Glu3611=) c.8097G>A (p.Glu2699=) c.6990G>A (p.Glu2330=) c.11016G>A (p.Glu3672=) c.6768G>A (p.Glu2256=) c.9996G>A (p.Glu3332=) | dbSNP |
8 | g.99861867G>C | CA371790580 | VPS13B | c.*305G>C (n.*305G>C) n.11281G>C c.*6893G>C (n.*6893G>C) c.11136G>C (p.Glu3712Asp) c.11211G>C (p.Glu3737Asp) c.11208G>C (p.Glu3736Asp) c.11133G>C (p.Glu3711Asp) c.10833G>C (p.Glu3611Asp) c.8097G>C (p.Glu2699Asp) c.6990G>C (p.Glu2330Asp) c.11016G>C (p.Glu3672Asp) c.6768G>C (p.Glu2256Asp) c.9996G>C (p.Glu3332Asp) | |
8 | g.99861867G>T | CA371790582 | VPS13B | c.*305G>T (n.*305G>T) n.11281G>T c.*6893G>T (n.*6893G>T) c.11136G>T (p.Glu3712Asp) c.11211G>T (p.Glu3737Asp) c.11208G>T (p.Glu3736Asp) c.11133G>T (p.Glu3711Asp) c.10833G>T (p.Glu3611Asp) c.8097G>T (p.Glu2699Asp) c.6990G>T (p.Glu2330Asp) c.11016G>T (p.Glu3672Asp) c.6768G>T (p.Glu2256Asp) c.9996G>T (p.Glu3332Asp) | |
8 | g.99861868G>A | CA371790583 | VPS13B | c.*306G>A (n.*306G>A) n.11282G>A c.*6894G>A (n.*6894G>A) c.11137G>A (p.Glu3713Lys) c.11212G>A (p.Glu3738Lys) c.11209G>A (p.Glu3737Lys) c.11134G>A (p.Glu3712Lys) c.10834G>A (p.Glu3612Lys) c.8098G>A (p.Glu2700Lys) c.6991G>A (p.Glu2331Lys) c.11017G>A (p.Glu3673Lys) c.6769G>A (p.Glu2257Lys) c.9997G>A (p.Glu3333Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861868G>C | CA371790587 | VPS13B | c.*306G>C (n.*306G>C) n.11282G>C c.*6894G>C (n.*6894G>C) c.11137G>C (p.Glu3713Gln) c.11212G>C (p.Glu3738Gln) c.11209G>C (p.Glu3737Gln) c.11134G>C (p.Glu3712Gln) c.10834G>C (p.Glu3612Gln) c.8098G>C (p.Glu2700Gln) c.6991G>C (p.Glu2331Gln) c.11017G>C (p.Glu3673Gln) c.6769G>C (p.Glu2257Gln) c.9997G>C (p.Glu3333Gln) | gnomAD v4 |
8 | g.99861868G>T | CA371790585 | VPS13B | c.*306G>T (n.*306G>T) n.11282G>T c.*6894G>T (n.*6894G>T) c.11137G>T (p.Glu3713Ter) c.11212G>T (p.Glu3738Ter) c.11209G>T (p.Glu3737Ter) c.11134G>T (p.Glu3712Ter) c.10834G>T (p.Glu3612Ter) c.8098G>T (p.Glu2700Ter) c.6991G>T (p.Glu2331Ter) c.11017G>T (p.Glu3673Ter) c.6769G>T (p.Glu2257Ter) c.9997G>T (p.Glu3333Ter) | gnomAD v4 |
8 | g.99861869A>C | CA371790589 | VPS13B | c.*307A>C (n.*307A>C) n.11283A>C c.*6895A>C (n.*6895A>C) c.11138A>C (p.Glu3713Ala) c.11213A>C (p.Glu3738Ala) c.11210A>C (p.Glu3737Ala) c.11135A>C (p.Glu3712Ala) c.10835A>C (p.Glu3612Ala) c.8099A>C (p.Glu2700Ala) c.6992A>C (p.Glu2331Ala) c.11018A>C (p.Glu3673Ala) c.6770A>C (p.Glu2257Ala) c.9998A>C (p.Glu3333Ala) | |
8 | g.99861869A>G | CA371790591 | VPS13B | c.*307A>G (n.*307A>G) n.11283A>G c.*6895A>G (n.*6895A>G) c.11138A>G (p.Glu3713Gly) c.11213A>G (p.Glu3738Gly) c.11210A>G (p.Glu3737Gly) c.11135A>G (p.Glu3712Gly) c.10835A>G (p.Glu3612Gly) c.8099A>G (p.Glu2700Gly) c.6992A>G (p.Glu2331Gly) c.11018A>G (p.Glu3673Gly) c.6770A>G (p.Glu2257Gly) c.9998A>G (p.Glu3333Gly) | dbSNP gnomAD v4 |
8 | g.99861869A>T | CA371790593 | VPS13B | c.*307A>T (n.*307A>T) n.11283A>T c.*6895A>T (n.*6895A>T) c.11138A>T (p.Glu3713Val) c.11213A>T (p.Glu3738Val) c.11210A>T (p.Glu3737Val) c.11135A>T (p.Glu3712Val) c.10835A>T (p.Glu3612Val) c.8099A>T (p.Glu2700Val) c.6992A>T (p.Glu2331Val) c.11018A>T (p.Glu3673Val) c.6770A>T (p.Glu2257Val) c.9998A>T (p.Glu3333Val) | |
8 | g.99861870G>A | CA462338175 | VPS13B | c.*308G>A (n.*308G>A) n.11284G>A c.*6896G>A (n.*6896G>A) c.11139G>A (p.Glu3713=) c.11214G>A (p.Glu3738=) c.11211G>A (p.Glu3737=) c.11136G>A (p.Glu3712=) c.10836G>A (p.Glu3612=) c.8100G>A (p.Glu2700=) c.6993G>A (p.Glu2331=) c.11019G>A (p.Glu3673=) c.6771G>A (p.Glu2257=) c.9999G>A (p.Glu3333=) | ClinVar dbSNP gnomAD v4 |
8 | g.99861870G>C | CA371790595 | VPS13B | c.*308G>C (n.*308G>C) n.11284G>C c.*6896G>C (n.*6896G>C) c.11139G>C (p.Glu3713Asp) c.11214G>C (p.Glu3738Asp) c.11211G>C (p.Glu3737Asp) c.11136G>C (p.Glu3712Asp) c.10836G>C (p.Glu3612Asp) c.8100G>C (p.Glu2700Asp) c.6993G>C (p.Glu2331Asp) c.11019G>C (p.Glu3673Asp) c.6771G>C (p.Glu2257Asp) c.9999G>C (p.Glu3333Asp) | |
8 | g.99861870G>T | CA371790597 | VPS13B | c.*308G>T (n.*308G>T) n.11284G>T c.*6896G>T (n.*6896G>T) c.11139G>T (p.Glu3713Asp) c.11214G>T (p.Glu3738Asp) c.11211G>T (p.Glu3737Asp) c.11136G>T (p.Glu3712Asp) c.10836G>T (p.Glu3612Asp) c.8100G>T (p.Glu2700Asp) c.6993G>T (p.Glu2331Asp) c.11019G>T (p.Glu3673Asp) c.6771G>T (p.Glu2257Asp) c.9999G>T (p.Glu3333Asp) | |
8 | g.99861871T>A | CA371790600 | VPS13B | c.*309T>A (n.*309T>A) n.11285T>A c.*6897T>A (n.*6897T>A) c.11140T>A (p.Trp3714Arg) c.11215T>A (p.Trp3739Arg) c.11212T>A (p.Trp3738Arg) c.11137T>A (p.Trp3713Arg) c.10837T>A (p.Trp3613Arg) c.8101T>A (p.Trp2701Arg) c.6994T>A (p.Trp2332Arg) c.11020T>A (p.Trp3674Arg) c.6772T>A (p.Trp2258Arg) c.10000T>A (p.Trp3334Arg) | |
8 | g.99861871T>C | CA371790602 | VPS13B | c.*309T>C (n.*309T>C) n.11285T>C c.*6897T>C (n.*6897T>C) c.11140T>C (p.Trp3714Arg) c.11215T>C (p.Trp3739Arg) c.11212T>C (p.Trp3738Arg) c.11137T>C (p.Trp3713Arg) c.10837T>C (p.Trp3613Arg) c.8101T>C (p.Trp2701Arg) c.6994T>C (p.Trp2332Arg) c.11020T>C (p.Trp3674Arg) c.6772T>C (p.Trp2258Arg) c.10000T>C (p.Trp3334Arg) | |
8 | g.99861871T>G | CA371790604 | VPS13B | c.*309T>G (n.*309T>G) n.11285T>G c.*6897T>G (n.*6897T>G) c.11140T>G (p.Trp3714Gly) c.11215T>G (p.Trp3739Gly) c.11212T>G (p.Trp3738Gly) c.11137T>G (p.Trp3713Gly) c.10837T>G (p.Trp3613Gly) c.8101T>G (p.Trp2701Gly) c.6994T>G (p.Trp2332Gly) c.11020T>G (p.Trp3674Gly) c.6772T>G (p.Trp2258Gly) c.10000T>G (p.Trp3334Gly) | gnomAD v3 gnomAD v4 |
8 | g.99861872G>A | CA264003 | VPS13B | c.*310G>A (n.*310G>A) n.11286G>A c.*6898G>A (n.*6898G>A) c.11141G>A (p.Trp3714Ter) c.11216G>A (p.Trp3739Ter) c.11213G>A (p.Trp3738Ter) c.11138G>A (p.Trp3713Ter) c.10838G>A (p.Trp3613Ter) c.8102G>A (p.Trp2701Ter) c.6995G>A (p.Trp2332Ter) c.11021G>A (p.Trp3674Ter) c.6773G>A (p.Trp2258Ter) c.10001G>A (p.Trp3334Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.99861872G>C | CA371790608 | VPS13B | c.*310G>C (n.*310G>C) n.11286G>C c.*6898G>C (n.*6898G>C) c.11141G>C (p.Trp3714Ser) c.11216G>C (p.Trp3739Ser) c.11213G>C (p.Trp3738Ser) c.11138G>C (p.Trp3713Ser) c.10838G>C (p.Trp3613Ser) c.8102G>C (p.Trp2701Ser) c.6995G>C (p.Trp2332Ser) c.11021G>C (p.Trp3674Ser) c.6773G>C (p.Trp2258Ser) c.10001G>C (p.Trp3334Ser) | |
8 | g.99861872G>T | CA371790610 | VPS13B | c.*310G>T (n.*310G>T) n.11286G>T c.*6898G>T (n.*6898G>T) c.11141G>T (p.Trp3714Leu) c.11216G>T (p.Trp3739Leu) c.11213G>T (p.Trp3738Leu) c.11138G>T (p.Trp3713Leu) c.10838G>T (p.Trp3613Leu) c.8102G>T (p.Trp2701Leu) c.6995G>T (p.Trp2332Leu) c.11021G>T (p.Trp3674Leu) c.6773G>T (p.Trp2258Leu) c.10001G>T (p.Trp3334Leu) | gnomAD v4 |
8 | g.99861873dup | CA2843184870 | VPS13B | c.*311dup (n.*311dup) n.11287dup c.*6899dup (n.*6899dup) c.11142dup (p.Arg3715AlafsTer?) c.11217dup (p.Arg3740AlafsTer?) c.11214dup (p.Arg3739AlafsTer?) c.11139dup (p.Arg3714AlafsTer?) c.10839dup (p.Arg3614AlafsTer?) c.8103dup (p.Arg2702AlafsTer?) c.6996dup (p.Arg2333AlafsTer?) c.11022dup (p.Arg3675AlafsTer?) c.6774dup (p.Arg2259AlafsTer?) c.10002dup (p.Arg3335AlafsTer?) | |
8 | g.99861873G>A | CA371790617 | VPS13B | c.*311G>A (n.*311G>A) n.11287G>A c.*6899G>A (n.*6899G>A) c.11142G>A (p.Trp3714Ter) c.11217G>A (p.Trp3739Ter) c.11214G>A (p.Trp3738Ter) c.11139G>A (p.Trp3713Ter) c.10839G>A (p.Trp3613Ter) c.8103G>A (p.Trp2701Ter) c.6996G>A (p.Trp2332Ter) c.11022G>A (p.Trp3674Ter) c.6774G>A (p.Trp2258Ter) c.10002G>A (p.Trp3334Ter) | gnomAD v4 |
8 | g.99861873G>C | CA371790613 | VPS13B | c.*311G>C (n.*311G>C) n.11287G>C c.*6899G>C (n.*6899G>C) c.11142G>C (p.Trp3714Cys) c.11217G>C (p.Trp3739Cys) c.11214G>C (p.Trp3738Cys) c.11139G>C (p.Trp3713Cys) c.10839G>C (p.Trp3613Cys) c.8103G>C (p.Trp2701Cys) c.6996G>C (p.Trp2332Cys) c.11022G>C (p.Trp3674Cys) c.6774G>C (p.Trp2258Cys) c.10002G>C (p.Trp3334Cys) | |
8 | g.99861873G>T | CA371790615 | VPS13B | c.*311G>T (n.*311G>T) n.11287G>T c.*6899G>T (n.*6899G>T) c.11142G>T (p.Trp3714Cys) c.11217G>T (p.Trp3739Cys) c.11214G>T (p.Trp3738Cys) c.11139G>T (p.Trp3713Cys) c.10839G>T (p.Trp3613Cys) c.8103G>T (p.Trp2701Cys) c.6996G>T (p.Trp2332Cys) c.11022G>T (p.Trp3674Cys) c.6774G>T (p.Trp2258Cys) c.10002G>T (p.Trp3334Cys) | |
8 | g.99861874C>A | CA462338193 | VPS13B | c.*312C>A (n.*312C>A) n.11288C>A c.*6900C>A (n.*6900C>A) c.11143C>A (p.Arg3715=) c.11218C>A (p.Arg3740=) c.11215C>A (p.Arg3739=) c.11140C>A (p.Arg3714=) c.10840C>A (p.Arg3614=) c.8104C>A (p.Arg2702=) c.6997C>A (p.Arg2333=) c.11023C>A (p.Arg3675=) c.6775C>A (p.Arg2259=) c.10003C>A (p.Arg3335=) | dbSNP gnomAD v4 |
8 | g.99861874C>G | CA371790618 | VPS13B | c.*312C>G (n.*312C>G) n.11288C>G c.*6900C>G (n.*6900C>G) c.11143C>G (p.Arg3715Gly) c.11218C>G (p.Arg3740Gly) c.11215C>G (p.Arg3739Gly) c.11140C>G (p.Arg3714Gly) c.10840C>G (p.Arg3614Gly) c.8104C>G (p.Arg2702Gly) c.6997C>G (p.Arg2333Gly) c.11023C>G (p.Arg3675Gly) c.6775C>G (p.Arg2259Gly) c.10003C>G (p.Arg3335Gly) | |
8 | g.99861874C>T | CA182321480 | VPS13B | c.*312C>T (n.*312C>T) n.11288C>T c.*6900C>T (n.*6900C>T) c.11143C>T (p.Arg3715Trp) c.11218C>T (p.Arg3740Trp) c.11215C>T (p.Arg3739Trp) c.11140C>T (p.Arg3714Trp) c.10840C>T (p.Arg3614Trp) c.8104C>T (p.Arg2702Trp) c.6997C>T (p.Arg2333Trp) c.11023C>T (p.Arg3675Trp) c.6775C>T (p.Arg2259Trp) c.10003C>T (p.Arg3335Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861875G>A | CA4825152 | VPS13B | c.*313G>A (n.*313G>A) n.11289G>A c.*6901G>A (n.*6901G>A) c.11144G>A (p.Arg3715Gln) c.11219G>A (p.Arg3740Gln) c.11216G>A (p.Arg3739Gln) c.11141G>A (p.Arg3714Gln) c.10841G>A (p.Arg3614Gln) c.8105G>A (p.Arg2702Gln) c.6998G>A (p.Arg2333Gln) c.11024G>A (p.Arg3675Gln) c.6776G>A (p.Arg2259Gln) c.10004G>A (p.Arg3335Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861875G>C | CA371790619 | VPS13B | c.*313G>C (n.*313G>C) n.11289G>C c.*6901G>C (n.*6901G>C) c.11144G>C (p.Arg3715Pro) c.11219G>C (p.Arg3740Pro) c.11216G>C (p.Arg3739Pro) c.11141G>C (p.Arg3714Pro) c.10841G>C (p.Arg3614Pro) c.8105G>C (p.Arg2702Pro) c.6998G>C (p.Arg2333Pro) c.11024G>C (p.Arg3675Pro) c.6776G>C (p.Arg2259Pro) c.10004G>C (p.Arg3335Pro) | |
8 | g.99861875G>T | CA371790620 | VPS13B | c.*313G>T (n.*313G>T) n.11289G>T c.*6901G>T (n.*6901G>T) c.11144G>T (p.Arg3715Leu) c.11219G>T (p.Arg3740Leu) c.11216G>T (p.Arg3739Leu) c.11141G>T (p.Arg3714Leu) c.10841G>T (p.Arg3614Leu) c.8105G>T (p.Arg2702Leu) c.6998G>T (p.Arg2333Leu) c.11024G>T (p.Arg3675Leu) c.6776G>T (p.Arg2259Leu) c.10004G>T (p.Arg3335Leu) | dbSNP gnomAD v4 |
8 | g.99861876dup | CA2843184871 | VPS13B | c.*314dup (n.*314dup) n.11290dup c.*6902dup (n.*6902dup) c.11145dup (p.Arg3716AlafsTer?) c.11220dup (p.Arg3741AlafsTer?) c.11217dup (p.Arg3740AlafsTer?) c.11142dup (p.Arg3715AlafsTer?) c.10842dup (p.Arg3615AlafsTer?) c.8106dup (p.Arg2703AlafsTer?) c.6999dup (p.Arg2334AlafsTer?) c.11025dup (p.Arg3676AlafsTer?) c.6777dup (p.Arg2260AlafsTer?) c.10005dup (p.Arg3336AlafsTer?) | |
8 | g.99861876G>A | CA462338199 | VPS13B | c.*314G>A (n.*314G>A) n.11290G>A c.*6902G>A (n.*6902G>A) c.11145G>A (p.Arg3715=) c.11220G>A (p.Arg3740=) c.11217G>A (p.Arg3739=) c.11142G>A (p.Arg3714=) c.10842G>A (p.Arg3614=) c.8106G>A (p.Arg2702=) c.6999G>A (p.Arg2333=) c.11025G>A (p.Arg3675=) c.6777G>A (p.Arg2259=) c.10005G>A (p.Arg3335=) | gnomAD v4 |
8 | g.99861876G>C | CA462338202 | VPS13B | c.*314G>C (n.*314G>C) n.11290G>C c.*6902G>C (n.*6902G>C) c.11145G>C (p.Arg3715=) c.11220G>C (p.Arg3740=) c.11217G>C (p.Arg3739=) c.11142G>C (p.Arg3714=) c.10842G>C (p.Arg3614=) c.8106G>C (p.Arg2702=) c.6999G>C (p.Arg2333=) c.11025G>C (p.Arg3675=) c.6777G>C (p.Arg2259=) c.10005G>C (p.Arg3335=) | |
8 | g.99861876G>T | CA462338197 | VPS13B | c.*314G>T (n.*314G>T) n.11290G>T c.*6902G>T (n.*6902G>T) c.11145G>T (p.Arg3715=) c.11220G>T (p.Arg3740=) c.11217G>T (p.Arg3739=) c.11142G>T (p.Arg3714=) c.10842G>T (p.Arg3614=) c.8106G>T (p.Arg2702=) c.6999G>T (p.Arg2333=) c.11025G>T (p.Arg3675=) c.6777G>T (p.Arg2259=) c.10005G>T (p.Arg3335=) | COSMIC COSMIC |