| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99861893G>A | CA371790661 | VPS13B | c.*331G>A (n.*331G>A) n.11307G>A c.*6919G>A (n.*6919G>A) c.11162G>A (p.Ser3721Asn) c.11237G>A (p.Ser3746Asn) c.11234G>A (p.Ser3745Asn) c.11159G>A (p.Ser3720Asn) c.10859G>A (p.Ser3620Asn) c.8123G>A (p.Ser2708Asn) c.7016G>A (p.Ser2339Asn) c.11042G>A (p.Ser3681Asn) c.6794G>A (p.Ser2265Asn) c.10022G>A (p.Ser3341Asn) | |
| 8 | g.99861893G>C | CA371790662 | VPS13B | c.*331G>C (n.*331G>C) n.11307G>C c.*6919G>C (n.*6919G>C) c.11162G>C (p.Ser3721Thr) c.11237G>C (p.Ser3746Thr) c.11234G>C (p.Ser3745Thr) c.11159G>C (p.Ser3720Thr) c.10859G>C (p.Ser3620Thr) c.8123G>C (p.Ser2708Thr) c.7016G>C (p.Ser2339Thr) c.11042G>C (p.Ser3681Thr) c.6794G>C (p.Ser2265Thr) c.10022G>C (p.Ser3341Thr) | |
| 8 | g.99861893G>T | CA371790663 | VPS13B | c.*331G>T (n.*331G>T) n.11307G>T c.*6919G>T (n.*6919G>T) c.11162G>T (p.Ser3721Ile) c.11237G>T (p.Ser3746Ile) c.11234G>T (p.Ser3745Ile) c.11159G>T (p.Ser3720Ile) c.10859G>T (p.Ser3620Ile) c.8123G>T (p.Ser2708Ile) c.7016G>T (p.Ser2339Ile) c.11042G>T (p.Ser3681Ile) c.6794G>T (p.Ser2265Ile) c.10022G>T (p.Ser3341Ile) | gnomAD v4 |
| 8 | g.99861893_99861894del | CA16041273 | VPS13B | c.*331_*332del (n.*331_*332del) n.11307_11308del c.*6919_*6920del (n.*6919_*6920del) c.11162_11163del (p.Ser3721ThrfsTer25) c.11237_11238del (p.Ser3746ThrfsTer25) c.11234_11235del (p.Ser3745ThrfsTer25) c.11159_11160del (p.Ser3720ThrfsTer25) c.10859_10860del (p.Ser3620ThrfsTer25) c.8123_8124del (p.Ser2708ThrfsTer25) c.7016_7017del (p.Ser2339ThrfsTer25) c.11042_11043del (p.Ser3681ThrfsTer25) c.6794_6795del (p.Ser2265ThrfsTer25) c.10022_10023del (p.Ser3341ThrfsTer25) | ClinVar dbSNP |
| 8 | g.99861894C>A | CA371790664 | VPS13B | c.*332C>A (n.*332C>A) n.11308C>A c.*6920C>A (n.*6920C>A) c.11163C>A (p.Ser3721Arg) c.11238C>A (p.Ser3746Arg) c.11235C>A (p.Ser3745Arg) c.11160C>A (p.Ser3720Arg) c.10860C>A (p.Ser3620Arg) c.8124C>A (p.Ser2708Arg) c.7017C>A (p.Ser2339Arg) c.11043C>A (p.Ser3681Arg) c.6795C>A (p.Ser2265Arg) c.10023C>A (p.Ser3341Arg) | gnomAD v4 |
| 8 | g.99861894C>G | CA371790665 | VPS13B | c.*332C>G (n.*332C>G) n.11308C>G c.*6920C>G (n.*6920C>G) c.11163C>G (p.Ser3721Arg) c.11238C>G (p.Ser3746Arg) c.11235C>G (p.Ser3745Arg) c.11160C>G (p.Ser3720Arg) c.10860C>G (p.Ser3620Arg) c.8124C>G (p.Ser2708Arg) c.7017C>G (p.Ser2339Arg) c.11043C>G (p.Ser3681Arg) c.6795C>G (p.Ser2265Arg) c.10023C>G (p.Ser3341Arg) | |
| 8 | g.99861894C>T | CA462338350 | VPS13B | c.*332C>T (n.*332C>T) n.11308C>T c.*6920C>T (n.*6920C>T) c.11163C>T (p.Ser3721=) c.11238C>T (p.Ser3746=) c.11235C>T (p.Ser3745=) c.11160C>T (p.Ser3720=) c.10860C>T (p.Ser3620=) c.8124C>T (p.Ser2708=) c.7017C>T (p.Ser2339=) c.11043C>T (p.Ser3681=) c.6795C>T (p.Ser2265=) c.10023C>T (p.Ser3341=) | gnomAD v4 |
| 8 | g.99861895C>A | CA371790667 | VPS13B | c.*333C>A (n.*333C>A) n.11309C>A c.*6921C>A (n.*6921C>A) c.11164C>A (p.Leu3722Met) c.11239C>A (p.Leu3747Met) c.11236C>A (p.Leu3746Met) c.11161C>A (p.Leu3721Met) c.10861C>A (p.Leu3621Met) c.8125C>A (p.Leu2709Met) c.7018C>A (p.Leu2340Met) c.11044C>A (p.Leu3682Met) c.6796C>A (p.Leu2266Met) c.10024C>A (p.Leu3342Met) | gnomAD v4 |
| 8 | g.99861895C>G | CA371790666 | VPS13B | c.*333C>G (n.*333C>G) n.11309C>G c.*6921C>G (n.*6921C>G) c.11164C>G (p.Leu3722Val) c.11239C>G (p.Leu3747Val) c.11236C>G (p.Leu3746Val) c.11161C>G (p.Leu3721Val) c.10861C>G (p.Leu3621Val) c.8125C>G (p.Leu2709Val) c.7018C>G (p.Leu2340Val) c.11044C>G (p.Leu3682Val) c.6796C>G (p.Leu2266Val) c.10024C>G (p.Leu3342Val) | |
| 8 | g.99861895C>T | CA462338356 | VPS13B | c.*333C>T (n.*333C>T) n.11309C>T c.*6921C>T (n.*6921C>T) c.11164C>T (p.Leu3722=) c.11239C>T (p.Leu3747=) c.11236C>T (p.Leu3746=) c.11161C>T (p.Leu3721=) c.10861C>T (p.Leu3621=) c.8125C>T (p.Leu2709=) c.7018C>T (p.Leu2340=) c.11044C>T (p.Leu3682=) c.6796C>T (p.Leu2266=) c.10024C>T (p.Leu3342=) | |
| 8 | g.99861896T>A | CA371790668 | VPS13B | c.*334T>A (n.*334T>A) n.11310T>A c.*6922T>A (n.*6922T>A) c.11165T>A (p.Leu3722Gln) c.11240T>A (p.Leu3747Gln) c.11237T>A (p.Leu3746Gln) c.11162T>A (p.Leu3721Gln) c.10862T>A (p.Leu3621Gln) c.8126T>A (p.Leu2709Gln) c.7019T>A (p.Leu2340Gln) c.11045T>A (p.Leu3682Gln) c.6797T>A (p.Leu2266Gln) c.10025T>A (p.Leu3342Gln) | |
| 8 | g.99861896T>C | CA371790669 | VPS13B | c.*334T>C (n.*334T>C) n.11310T>C c.*6922T>C (n.*6922T>C) c.11165T>C (p.Leu3722Pro) c.11240T>C (p.Leu3747Pro) c.11237T>C (p.Leu3746Pro) c.11162T>C (p.Leu3721Pro) c.10862T>C (p.Leu3621Pro) c.8126T>C (p.Leu2709Pro) c.7019T>C (p.Leu2340Pro) c.11045T>C (p.Leu3682Pro) c.6797T>C (p.Leu2266Pro) c.10025T>C (p.Leu3342Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861896T>G | CA371790670 | VPS13B | c.*334T>G (n.*334T>G) n.11310T>G c.*6922T>G (n.*6922T>G) c.11165T>G (p.Leu3722Arg) c.11240T>G (p.Leu3747Arg) c.11237T>G (p.Leu3746Arg) c.11162T>G (p.Leu3721Arg) c.10862T>G (p.Leu3621Arg) c.8126T>G (p.Leu2709Arg) c.7019T>G (p.Leu2340Arg) c.11045T>G (p.Leu3682Arg) c.6797T>G (p.Leu2266Arg) c.10025T>G (p.Leu3342Arg) | |
| 8 | g.99861897G>A | CA462338364 | VPS13B | c.*335G>A (n.*335G>A) n.11311G>A c.*6923G>A (n.*6923G>A) c.11166G>A (p.Leu3722=) c.11241G>A (p.Leu3747=) c.11238G>A (p.Leu3746=) c.11163G>A (p.Leu3721=) c.10863G>A (p.Leu3621=) c.8127G>A (p.Leu2709=) c.7020G>A (p.Leu2340=) c.11046G>A (p.Leu3682=) c.6798G>A (p.Leu2266=) c.10026G>A (p.Leu3342=) | |
| 8 | g.99861897G>C | CA462338366 | VPS13B | c.*335G>C (n.*335G>C) n.11311G>C c.*6923G>C (n.*6923G>C) c.11166G>C (p.Leu3722=) c.11241G>C (p.Leu3747=) c.11238G>C (p.Leu3746=) c.11163G>C (p.Leu3721=) c.10863G>C (p.Leu3621=) c.8127G>C (p.Leu2709=) c.7020G>C (p.Leu2340=) c.11046G>C (p.Leu3682=) c.6798G>C (p.Leu2266=) c.10026G>C (p.Leu3342=) | |
| 8 | g.99861897G>T | CA462338368 | VPS13B | c.*335G>T (n.*335G>T) n.11311G>T c.*6923G>T (n.*6923G>T) c.11166G>T (p.Leu3722=) c.11241G>T (p.Leu3747=) c.11238G>T (p.Leu3746=) c.11163G>T (p.Leu3721=) c.10863G>T (p.Leu3621=) c.8127G>T (p.Leu2709=) c.7020G>T (p.Leu2340=) c.11046G>T (p.Leu3682=) c.6798G>T (p.Leu2266=) c.10026G>T (p.Leu3342=) | gnomAD v4 |
| 8 | g.99861898G>A | CA371790671 | VPS13B | c.*336G>A (n.*336G>A) n.11312G>A c.*6924G>A (n.*6924G>A) c.11167G>A (p.Gly3723Ser) c.11242G>A (p.Gly3748Ser) c.11239G>A (p.Gly3747Ser) c.11164G>A (p.Gly3722Ser) c.10864G>A (p.Gly3622Ser) c.8128G>A (p.Gly2710Ser) c.7021G>A (p.Gly2341Ser) c.11047G>A (p.Gly3683Ser) c.6799G>A (p.Gly2267Ser) c.10027G>A (p.Gly3343Ser) | ClinVar COSMIC |
| 8 | g.99861898G>C | CA371790672 | VPS13B | c.*336G>C (n.*336G>C) n.11312G>C c.*6924G>C (n.*6924G>C) c.11167G>C (p.Gly3723Arg) c.11242G>C (p.Gly3748Arg) c.11239G>C (p.Gly3747Arg) c.11164G>C (p.Gly3722Arg) c.10864G>C (p.Gly3622Arg) c.8128G>C (p.Gly2710Arg) c.7021G>C (p.Gly2341Arg) c.11047G>C (p.Gly3683Arg) c.6799G>C (p.Gly2267Arg) c.10027G>C (p.Gly3343Arg) | ClinVar dbSNP |
| 8 | g.99861898G>T | CA371790673 | VPS13B | c.*336G>T (n.*336G>T) n.11312G>T c.*6924G>T (n.*6924G>T) c.11167G>T (p.Gly3723Cys) c.11242G>T (p.Gly3748Cys) c.11239G>T (p.Gly3747Cys) c.11164G>T (p.Gly3722Cys) c.10864G>T (p.Gly3622Cys) c.8128G>T (p.Gly2710Cys) c.7021G>T (p.Gly2341Cys) c.11047G>T (p.Gly3683Cys) c.6799G>T (p.Gly2267Cys) c.10027G>T (p.Gly3343Cys) | |
| 8 | g.99861899G>A | CA371790674 | VPS13B | c.*337G>A (n.*337G>A) n.11313G>A c.*6925G>A (n.*6925G>A) c.11168G>A (p.Gly3723Asp) c.11243G>A (p.Gly3748Asp) c.11240G>A (p.Gly3747Asp) c.11165G>A (p.Gly3722Asp) c.10865G>A (p.Gly3622Asp) c.8129G>A (p.Gly2710Asp) c.7022G>A (p.Gly2341Asp) c.11048G>A (p.Gly3683Asp) c.6800G>A (p.Gly2267Asp) c.10028G>A (p.Gly3343Asp) | COSMIC COSMIC |
| 8 | g.99861899G>C | CA371790676 | VPS13B | c.*337G>C (n.*337G>C) n.11313G>C c.*6925G>C (n.*6925G>C) c.11168G>C (p.Gly3723Ala) c.11243G>C (p.Gly3748Ala) c.11240G>C (p.Gly3747Ala) c.11165G>C (p.Gly3722Ala) c.10865G>C (p.Gly3622Ala) c.8129G>C (p.Gly2710Ala) c.7022G>C (p.Gly2341Ala) c.11048G>C (p.Gly3683Ala) c.6800G>C (p.Gly2267Ala) c.10028G>C (p.Gly3343Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99861899G>T | CA371790675 | VPS13B | c.*337G>T (n.*337G>T) n.11313G>T c.*6925G>T (n.*6925G>T) c.11168G>T (p.Gly3723Val) c.11243G>T (p.Gly3748Val) c.11240G>T (p.Gly3747Val) c.11165G>T (p.Gly3722Val) c.10865G>T (p.Gly3622Val) c.8129G>T (p.Gly2710Val) c.7022G>T (p.Gly2341Val) c.11048G>T (p.Gly3683Val) c.6800G>T (p.Gly2267Val) c.10028G>T (p.Gly3343Val) | gnomAD v4 |
| 8 | g.99861900C>A | CA462338382 | VPS13B | c.*338C>A (n.*338C>A) n.11314C>A c.*6926C>A (n.*6926C>A) c.11169C>A (p.Gly3723=) c.11244C>A (p.Gly3748=) c.11241C>A (p.Gly3747=) c.11166C>A (p.Gly3722=) c.10866C>A (p.Gly3622=) c.8130C>A (p.Gly2710=) c.7023C>A (p.Gly2341=) c.11049C>A (p.Gly3683=) c.6801C>A (p.Gly2267=) c.10029C>A (p.Gly3343=) | gnomAD v4 |
| 8 | g.99861900C>G | CA462338384 | VPS13B | c.*338C>G (n.*338C>G) n.11314C>G c.*6926C>G (n.*6926C>G) c.11169C>G (p.Gly3723=) c.11244C>G (p.Gly3748=) c.11241C>G (p.Gly3747=) c.11166C>G (p.Gly3722=) c.10866C>G (p.Gly3622=) c.8130C>G (p.Gly2710=) c.7023C>G (p.Gly2341=) c.11049C>G (p.Gly3683=) c.6801C>G (p.Gly2267=) c.10029C>G (p.Gly3343=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99861900C>T | CA462338386 | VPS13B | c.*338C>T (n.*338C>T) n.11314C>T c.*6926C>T (n.*6926C>T) c.11169C>T (p.Gly3723=) c.11244C>T (p.Gly3748=) c.11241C>T (p.Gly3747=) c.11166C>T (p.Gly3722=) c.10866C>T (p.Gly3622=) c.8130C>T (p.Gly2710=) c.7023C>T (p.Gly2341=) c.11049C>T (p.Gly3683=) c.6801C>T (p.Gly2267=) c.10029C>T (p.Gly3343=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.99861901G>A | CA4825158 | VPS13B | c.*339G>A (n.*339G>A) n.11315G>A c.*6927G>A (n.*6927G>A) c.11170G>A (p.Glu3724Lys) c.11245G>A (p.Glu3749Lys) c.11242G>A (p.Glu3748Lys) c.11167G>A (p.Glu3723Lys) c.10867G>A (p.Glu3623Lys) c.8131G>A (p.Glu2711Lys) c.7024G>A (p.Glu2342Lys) c.11050G>A (p.Glu3684Lys) c.6802G>A (p.Glu2268Lys) c.10030G>A (p.Glu3344Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861901G>C | CA371790677 | VPS13B | c.*339G>C (n.*339G>C) n.11315G>C c.*6927G>C (n.*6927G>C) c.11170G>C (p.Glu3724Gln) c.11245G>C (p.Glu3749Gln) c.11242G>C (p.Glu3748Gln) c.11167G>C (p.Glu3723Gln) c.10867G>C (p.Glu3623Gln) c.8131G>C (p.Glu2711Gln) c.7024G>C (p.Glu2342Gln) c.11050G>C (p.Glu3684Gln) c.6802G>C (p.Glu2268Gln) c.10030G>C (p.Glu3344Gln) | |
| 8 | g.99861901G>T | CA284770 | VPS13B | c.*339G>T (n.*339G>T) n.11315G>T c.*6927G>T (n.*6927G>T) c.11170G>T (p.Glu3724Ter) c.11245G>T (p.Glu3749Ter) c.11242G>T (p.Glu3748Ter) c.11167G>T (p.Glu3723Ter) c.10867G>T (p.Glu3623Ter) c.8131G>T (p.Glu2711Ter) c.7024G>T (p.Glu2342Ter) c.11050G>T (p.Glu3684Ter) c.6802G>T (p.Glu2268Ter) c.10030G>T (p.Glu3344Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99861902_99861905dup | CA16042625 | VPS13B | c.*340_*343dup (n.*340_*343dup) n.11316_11319dup c.*6928_*6931dup (n.*6928_*6931dup) c.11171_11174dup (p.Leu3726GlyfsTer22) c.11246_11249dup (p.Leu3751GlyfsTer22) c.11243_11246dup (p.Leu3750GlyfsTer22) c.11168_11171dup (p.Leu3725GlyfsTer22) c.10868_10871dup (p.Leu3625GlyfsTer22) c.8132_8135dup (p.Leu2713GlyfsTer22) c.7025_7028dup (p.Leu2344GlyfsTer22) c.11051_11054dup (p.Leu3686GlyfsTer22) c.6803_6806dup (p.Leu2270GlyfsTer22) c.10031_10034dup (p.Leu3346GlyfsTer22) | ClinVar dbSNP |
| 8 | g.99861902A>C | CA371790678 | VPS13B | c.*340A>C (n.*340A>C) n.11316A>C c.*6928A>C (n.*6928A>C) c.11171A>C (p.Glu3724Ala) c.11246A>C (p.Glu3749Ala) c.11243A>C (p.Glu3748Ala) c.11168A>C (p.Glu3723Ala) c.10868A>C (p.Glu3623Ala) c.8132A>C (p.Glu2711Ala) c.7025A>C (p.Glu2342Ala) c.11051A>C (p.Glu3684Ala) c.6803A>C (p.Glu2268Ala) c.10031A>C (p.Glu3344Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861902A>G | CA371790679 | VPS13B | c.*340A>G (n.*340A>G) n.11316A>G c.*6928A>G (n.*6928A>G) c.11171A>G (p.Glu3724Gly) c.11246A>G (p.Glu3749Gly) c.11243A>G (p.Glu3748Gly) c.11168A>G (p.Glu3723Gly) c.10868A>G (p.Glu3623Gly) c.8132A>G (p.Glu2711Gly) c.7025A>G (p.Glu2342Gly) c.11051A>G (p.Glu3684Gly) c.6803A>G (p.Glu2268Gly) c.10031A>G (p.Glu3344Gly) | gnomAD v4 |
| 8 | g.99861902A>T | CA371790680 | VPS13B | c.*340A>T (n.*340A>T) n.11316A>T c.*6928A>T (n.*6928A>T) c.11171A>T (p.Glu3724Val) c.11246A>T (p.Glu3749Val) c.11243A>T (p.Glu3748Val) c.11168A>T (p.Glu3723Val) c.10868A>T (p.Glu3623Val) c.8132A>T (p.Glu2711Val) c.7025A>T (p.Glu2342Val) c.11051A>T (p.Glu3684Val) c.6803A>T (p.Glu2268Val) c.10031A>T (p.Glu3344Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861903G>A | CA462338400 | VPS13B | c.*341G>A (n.*341G>A) n.11317G>A c.*6929G>A (n.*6929G>A) c.11172G>A (p.Glu3724=) c.11247G>A (p.Glu3749=) c.11244G>A (p.Glu3748=) c.11169G>A (p.Glu3723=) c.10869G>A (p.Glu3623=) c.8133G>A (p.Glu2711=) c.7026G>A (p.Glu2342=) c.11052G>A (p.Glu3684=) c.6804G>A (p.Glu2268=) c.10032G>A (p.Glu3344=) | dbSNP |
| 8 | g.99861903G>C | CA371790681 | VPS13B | c.*341G>C (n.*341G>C) n.11317G>C c.*6929G>C (n.*6929G>C) c.11172G>C (p.Glu3724Asp) c.11247G>C (p.Glu3749Asp) c.11244G>C (p.Glu3748Asp) c.11169G>C (p.Glu3723Asp) c.10869G>C (p.Glu3623Asp) c.8133G>C (p.Glu2711Asp) c.7026G>C (p.Glu2342Asp) c.11052G>C (p.Glu3684Asp) c.6804G>C (p.Glu2268Asp) c.10032G>C (p.Glu3344Asp) | |
| 8 | g.99861903G>T | CA371790682 | VPS13B | c.*341G>T (n.*341G>T) n.11317G>T c.*6929G>T (n.*6929G>T) c.11172G>T (p.Glu3724Asp) c.11247G>T (p.Glu3749Asp) c.11244G>T (p.Glu3748Asp) c.11169G>T (p.Glu3723Asp) c.10869G>T (p.Glu3623Asp) c.8133G>T (p.Glu2711Asp) c.7026G>T (p.Glu2342Asp) c.11052G>T (p.Glu3684Asp) c.6804G>T (p.Glu2268Asp) c.10032G>T (p.Glu3344Asp) | gnomAD v4 |
| 8 | g.99861904G>A | CA371790683 | VPS13B | c.*342G>A (n.*342G>A) n.11318G>A c.*6930G>A (n.*6930G>A) c.11173G>A (p.Gly3725Arg) c.11248G>A (p.Gly3750Arg) c.11245G>A (p.Gly3749Arg) c.11170G>A (p.Gly3724Arg) c.10870G>A (p.Gly3624Arg) c.8134G>A (p.Gly2712Arg) c.7027G>A (p.Gly2343Arg) c.11053G>A (p.Gly3685Arg) c.6805G>A (p.Gly2269Arg) c.10033G>A (p.Gly3345Arg) | |
| 8 | g.99861904G>C | CA371790684 | VPS13B | c.*342G>C (n.*342G>C) n.11318G>C c.*6930G>C (n.*6930G>C) c.11173G>C (p.Gly3725Arg) c.11248G>C (p.Gly3750Arg) c.11245G>C (p.Gly3749Arg) c.11170G>C (p.Gly3724Arg) c.10870G>C (p.Gly3624Arg) c.8134G>C (p.Gly2712Arg) c.7027G>C (p.Gly2343Arg) c.11053G>C (p.Gly3685Arg) c.6805G>C (p.Gly2269Arg) c.10033G>C (p.Gly3345Arg) | |
| 8 | g.99861904G>T | CA371790685 | VPS13B | c.*342G>T (n.*342G>T) n.11318G>T c.*6930G>T (n.*6930G>T) c.11173G>T (p.Gly3725Trp) c.11248G>T (p.Gly3750Trp) c.11245G>T (p.Gly3749Trp) c.11170G>T (p.Gly3724Trp) c.10870G>T (p.Gly3624Trp) c.8134G>T (p.Gly2712Trp) c.7027G>T (p.Gly2343Trp) c.11053G>T (p.Gly3685Trp) c.6805G>T (p.Gly2269Trp) c.10033G>T (p.Gly3345Trp) | |
| 8 | g.99861905G>A | CA371790686 | VPS13B | c.*343G>A (n.*343G>A) n.11319G>A c.*6931G>A (n.*6931G>A) c.11174G>A (p.Gly3725Glu) c.11249G>A (p.Gly3750Glu) c.11246G>A (p.Gly3749Glu) c.11171G>A (p.Gly3724Glu) c.10871G>A (p.Gly3624Glu) c.8135G>A (p.Gly2712Glu) c.7028G>A (p.Gly2343Glu) c.11054G>A (p.Gly3685Glu) c.6806G>A (p.Gly2269Glu) c.10034G>A (p.Gly3345Glu) | |
| 8 | g.99861905G>C | CA371790688 | VPS13B | c.*343G>C (n.*343G>C) n.11319G>C c.*6931G>C (n.*6931G>C) c.11174G>C (p.Gly3725Ala) c.11249G>C (p.Gly3750Ala) c.11246G>C (p.Gly3749Ala) c.11171G>C (p.Gly3724Ala) c.10871G>C (p.Gly3624Ala) c.8135G>C (p.Gly2712Ala) c.7028G>C (p.Gly2343Ala) c.11054G>C (p.Gly3685Ala) c.6806G>C (p.Gly2269Ala) c.10034G>C (p.Gly3345Ala) | |
| 8 | g.99861905G>T | CA371790687 | VPS13B | c.*343G>T (n.*343G>T) n.11319G>T c.*6931G>T (n.*6931G>T) c.11174G>T (p.Gly3725Val) c.11249G>T (p.Gly3750Val) c.11246G>T (p.Gly3749Val) c.11171G>T (p.Gly3724Val) c.10871G>T (p.Gly3624Val) c.8135G>T (p.Gly2712Val) c.7028G>T (p.Gly2343Val) c.11054G>T (p.Gly3685Val) c.6806G>T (p.Gly2269Val) c.10034G>T (p.Gly3345Val) | |
| 8 | g.99861906G>A | CA462338419 | VPS13B | c.*344G>A (n.*344G>A) n.11320G>A c.*6932G>A (n.*6932G>A) c.11175G>A (p.Gly3725=) c.11250G>A (p.Gly3750=) c.11247G>A (p.Gly3749=) c.11172G>A (p.Gly3724=) c.10872G>A (p.Gly3624=) c.8136G>A (p.Gly2712=) c.7029G>A (p.Gly2343=) c.11055G>A (p.Gly3685=) c.6807G>A (p.Gly2269=) c.10035G>A (p.Gly3345=) | dbSNP gnomAD v2 |
| 8 | g.99861906G>C | CA462338417 | VPS13B | c.*344G>C (n.*344G>C) n.11320G>C c.*6932G>C (n.*6932G>C) c.11175G>C (p.Gly3725=) c.11250G>C (p.Gly3750=) c.11247G>C (p.Gly3749=) c.11172G>C (p.Gly3724=) c.10872G>C (p.Gly3624=) c.8136G>C (p.Gly2712=) c.7029G>C (p.Gly2343=) c.11055G>C (p.Gly3685=) c.6807G>C (p.Gly2269=) c.10035G>C (p.Gly3345=) | |
| 8 | g.99861906G>T | CA4825159 | VPS13B | c.*344G>T (n.*344G>T) n.11320G>T c.*6932G>T (n.*6932G>T) c.11175G>T (p.Gly3725=) c.11250G>T (p.Gly3750=) c.11247G>T (p.Gly3749=) c.11172G>T (p.Gly3724=) c.10872G>T (p.Gly3624=) c.8136G>T (p.Gly2712=) c.7029G>T (p.Gly2343=) c.11055G>T (p.Gly3685=) c.6807G>T (p.Gly2269=) c.10035G>T (p.Gly3345=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861907C>A | CA371790689 | VPS13B | c.*345C>A (n.*345C>A) n.11321C>A c.*6933C>A (n.*6933C>A) c.11176C>A (p.Leu3726Ile) c.11251C>A (p.Leu3751Ile) c.11248C>A (p.Leu3750Ile) c.11173C>A (p.Leu3725Ile) c.10873C>A (p.Leu3625Ile) c.8137C>A (p.Leu2713Ile) c.7030C>A (p.Leu2344Ile) c.11056C>A (p.Leu3686Ile) c.6808C>A (p.Leu2270Ile) c.10036C>A (p.Leu3346Ile) | dbSNP gnomAD v2 |
| 8 | g.99861907C>G | CA371790690 | VPS13B | c.*345C>G (n.*345C>G) n.11321C>G c.*6933C>G (n.*6933C>G) c.11176C>G (p.Leu3726Val) c.11251C>G (p.Leu3751Val) c.11248C>G (p.Leu3750Val) c.11173C>G (p.Leu3725Val) c.10873C>G (p.Leu3625Val) c.8137C>G (p.Leu2713Val) c.7030C>G (p.Leu2344Val) c.11056C>G (p.Leu3686Val) c.6808C>G (p.Leu2270Val) c.10036C>G (p.Leu3346Val) | |
| 8 | g.99861907C>T | CA4825160 | VPS13B | c.*345C>T (n.*345C>T) n.11321C>T c.*6933C>T (n.*6933C>T) c.11176C>T (p.Leu3726Phe) c.11251C>T (p.Leu3751Phe) c.11248C>T (p.Leu3750Phe) c.11173C>T (p.Leu3725Phe) c.10873C>T (p.Leu3625Phe) c.8137C>T (p.Leu2713Phe) c.7030C>T (p.Leu2344Phe) c.11056C>T (p.Leu3686Phe) c.6808C>T (p.Leu2270Phe) c.10036C>T (p.Leu3346Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861908T>A | CA371790691 | VPS13B | c.*346T>A (n.*346T>A) n.11322T>A c.*6934T>A (n.*6934T>A) c.11177T>A (p.Leu3726His) c.11252T>A (p.Leu3751His) c.11249T>A (p.Leu3750His) c.11174T>A (p.Leu3725His) c.10874T>A (p.Leu3625His) c.8138T>A (p.Leu2713His) c.7031T>A (p.Leu2344His) c.11057T>A (p.Leu3686His) c.6809T>A (p.Leu2270His) c.10037T>A (p.Leu3346His) | |
| 8 | g.99861908T>C | CA371790692 | VPS13B | c.*346T>C (n.*346T>C) n.11322T>C c.*6934T>C (n.*6934T>C) c.11177T>C (p.Leu3726Pro) c.11252T>C (p.Leu3751Pro) c.11249T>C (p.Leu3750Pro) c.11174T>C (p.Leu3725Pro) c.10874T>C (p.Leu3625Pro) c.8138T>C (p.Leu2713Pro) c.7031T>C (p.Leu2344Pro) c.11057T>C (p.Leu3686Pro) c.6809T>C (p.Leu2270Pro) c.10037T>C (p.Leu3346Pro) | |
| 8 | g.99861908T>G | CA371790693 | VPS13B | c.*346T>G (n.*346T>G) n.11322T>G c.*6934T>G (n.*6934T>G) c.11177T>G (p.Leu3726Arg) c.11252T>G (p.Leu3751Arg) c.11249T>G (p.Leu3750Arg) c.11174T>G (p.Leu3725Arg) c.10874T>G (p.Leu3625Arg) c.8138T>G (p.Leu2713Arg) c.7031T>G (p.Leu2344Arg) c.11057T>G (p.Leu3686Arg) c.6809T>G (p.Leu2270Arg) c.10037T>G (p.Leu3346Arg) |