| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99854124A>C | CA371785661 | VPS13B | c.10810A>C (p.Lys3604Gln) n.10880A>C c.*6492A>C (n.*6492A>C) c.10735A>C (p.Lys3579Gln) c.10807A>C (p.Lys3603Gln) c.10732A>C (p.Lys3578Gln) c.10432A>C (p.Lys3478Gln) c.7696A>C (p.Lys2566Gln) c.6589A>C (p.Lys2197Gln) c.10615A>C (p.Lys3539Gln) c.6367A>C (p.Lys2123Gln) c.9595A>C (p.Lys3199Gln) | gnomAD v4 |
| 8 | g.99854124A>G | CA371785663 | VPS13B | c.10810A>G (p.Lys3604Glu) n.10880A>G c.*6492A>G (n.*6492A>G) c.10735A>G (p.Lys3579Glu) c.10807A>G (p.Lys3603Glu) c.10732A>G (p.Lys3578Glu) c.10432A>G (p.Lys3478Glu) c.7696A>G (p.Lys2566Glu) c.6589A>G (p.Lys2197Glu) c.10615A>G (p.Lys3539Glu) c.6367A>G (p.Lys2123Glu) c.9595A>G (p.Lys3199Glu) | |
| 8 | g.99854124A>T | CA16605287 | VPS13B | c.10810A>T (p.Lys3604Ter) n.10880A>T c.*6492A>T (n.*6492A>T) c.10735A>T (p.Lys3579Ter) c.10807A>T (p.Lys3603Ter) c.10732A>T (p.Lys3578Ter) c.10432A>T (p.Lys3478Ter) c.7696A>T (p.Lys2566Ter) c.6589A>T (p.Lys2197Ter) c.10615A>T (p.Lys3539Ter) c.6367A>T (p.Lys2123Ter) c.9595A>T (p.Lys3199Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99854125A>C | CA371785669 | VPS13B | c.10811A>C (p.Lys3604Thr) n.10881A>C c.*6493A>C (n.*6493A>C) c.10736A>C (p.Lys3579Thr) c.10808A>C (p.Lys3603Thr) c.10733A>C (p.Lys3578Thr) c.10433A>C (p.Lys3478Thr) c.7697A>C (p.Lys2566Thr) c.6590A>C (p.Lys2197Thr) c.10616A>C (p.Lys3539Thr) c.6368A>C (p.Lys2123Thr) c.9596A>C (p.Lys3199Thr) | |
| 8 | g.99854125A>G | CA371785672 | VPS13B | c.10811A>G (p.Lys3604Arg) n.10881A>G c.*6493A>G (n.*6493A>G) c.10736A>G (p.Lys3579Arg) c.10808A>G (p.Lys3603Arg) c.10733A>G (p.Lys3578Arg) c.10433A>G (p.Lys3478Arg) c.7697A>G (p.Lys2566Arg) c.6590A>G (p.Lys2197Arg) c.10616A>G (p.Lys3539Arg) c.6368A>G (p.Lys2123Arg) c.9596A>G (p.Lys3199Arg) | |
| 8 | g.99854125A>T | CA371785675 | VPS13B | c.10811A>T (p.Lys3604Met) n.10881A>T c.*6493A>T (n.*6493A>T) c.10736A>T (p.Lys3579Met) c.10808A>T (p.Lys3603Met) c.10733A>T (p.Lys3578Met) c.10433A>T (p.Lys3478Met) c.7697A>T (p.Lys2566Met) c.6590A>T (p.Lys2197Met) c.10616A>T (p.Lys3539Met) c.6368A>T (p.Lys2123Met) c.9596A>T (p.Lys3199Met) | |
| 8 | g.99854126G>A | CA462458343 | VPS13B | c.10812G>A (p.Lys3604=) n.10882G>A c.*6494G>A (n.*6494G>A) c.10737G>A (p.Lys3579=) c.10809G>A (p.Lys3603=) c.10734G>A (p.Lys3578=) c.10434G>A (p.Lys3478=) c.7698G>A (p.Lys2566=) c.6591G>A (p.Lys2197=) c.10617G>A (p.Lys3539=) c.6369G>A (p.Lys2123=) c.9597G>A (p.Lys3199=) | |
| 8 | g.99854126G>C | CA371785681 | VPS13B | c.10812G>C (p.Lys3604Asn) n.10882G>C c.*6494G>C (n.*6494G>C) c.10737G>C (p.Lys3579Asn) c.10809G>C (p.Lys3603Asn) c.10734G>C (p.Lys3578Asn) c.10434G>C (p.Lys3478Asn) c.7698G>C (p.Lys2566Asn) c.6591G>C (p.Lys2197Asn) c.10617G>C (p.Lys3539Asn) c.6369G>C (p.Lys2123Asn) c.9597G>C (p.Lys3199Asn) | |
| 8 | g.99854126G>T | CA371785683 | VPS13B | c.10812G>T (p.Lys3604Asn) n.10882G>T c.*6494G>T (n.*6494G>T) c.10737G>T (p.Lys3579Asn) c.10809G>T (p.Lys3603Asn) c.10734G>T (p.Lys3578Asn) c.10434G>T (p.Lys3478Asn) c.7698G>T (p.Lys2566Asn) c.6591G>T (p.Lys2197Asn) c.10617G>T (p.Lys3539Asn) c.6369G>T (p.Lys2123Asn) c.9597G>T (p.Lys3199Asn) | |
| 8 | g.99854127C>A | CA371785684 | VPS13B | c.10813C>A (p.Leu3605Met) n.10883C>A c.*6495C>A (n.*6495C>A) c.10738C>A (p.Leu3580Met) c.10810C>A (p.Leu3604Met) c.10735C>A (p.Leu3579Met) c.10435C>A (p.Leu3479Met) c.7699C>A (p.Leu2567Met) c.6592C>A (p.Leu2198Met) c.10618C>A (p.Leu3540Met) c.6370C>A (p.Leu2124Met) c.9598C>A (p.Leu3200Met) | |
| 8 | g.99854127C>G | CA371785686 | VPS13B | c.10813C>G (p.Leu3605Val) n.10883C>G c.*6495C>G (n.*6495C>G) c.10738C>G (p.Leu3580Val) c.10810C>G (p.Leu3604Val) c.10735C>G (p.Leu3579Val) c.10435C>G (p.Leu3479Val) c.7699C>G (p.Leu2567Val) c.6592C>G (p.Leu2198Val) c.10618C>G (p.Leu3540Val) c.6370C>G (p.Leu2124Val) c.9598C>G (p.Leu3200Val) | |
| 8 | g.99854127C>T | CA462458344 | VPS13B | c.10813C>T (p.Leu3605=) n.10883C>T c.*6495C>T (n.*6495C>T) c.10738C>T (p.Leu3580=) c.10810C>T (p.Leu3604=) c.10735C>T (p.Leu3579=) c.10435C>T (p.Leu3479=) c.7699C>T (p.Leu2567=) c.6592C>T (p.Leu2198=) c.10618C>T (p.Leu3540=) c.6370C>T (p.Leu2124=) c.9598C>T (p.Leu3200=) | dbSNP gnomAD v2 |
| 8 | g.99854128T>A | CA371785691 | VPS13B | c.10814T>A (p.Leu3605Gln) n.10884T>A c.*6496T>A (n.*6496T>A) c.10739T>A (p.Leu3580Gln) c.10811T>A (p.Leu3604Gln) c.10736T>A (p.Leu3579Gln) c.10436T>A (p.Leu3479Gln) c.7700T>A (p.Leu2567Gln) c.6593T>A (p.Leu2198Gln) c.10619T>A (p.Leu3540Gln) c.6371T>A (p.Leu2124Gln) c.9599T>A (p.Leu3200Gln) | |
| 8 | g.99854128T>C | CA371785689 | VPS13B | c.10814T>C (p.Leu3605Pro) n.10884T>C c.*6496T>C (n.*6496T>C) c.10739T>C (p.Leu3580Pro) c.10811T>C (p.Leu3604Pro) c.10736T>C (p.Leu3579Pro) c.10436T>C (p.Leu3479Pro) c.7700T>C (p.Leu2567Pro) c.6593T>C (p.Leu2198Pro) c.10619T>C (p.Leu3540Pro) c.6371T>C (p.Leu2124Pro) c.9599T>C (p.Leu3200Pro) | ClinVar |
| 8 | g.99854128T>G | CA371785690 | VPS13B | c.10814T>G (p.Leu3605Arg) n.10884T>G c.*6496T>G (n.*6496T>G) c.10739T>G (p.Leu3580Arg) c.10811T>G (p.Leu3604Arg) c.10736T>G (p.Leu3579Arg) c.10436T>G (p.Leu3479Arg) c.7700T>G (p.Leu2567Arg) c.6593T>G (p.Leu2198Arg) c.10619T>G (p.Leu3540Arg) c.6371T>G (p.Leu2124Arg) c.9599T>G (p.Leu3200Arg) | |
| 8 | g.99854129G>A | CA182314804 | VPS13B | c.10815G>A (p.Leu3605=) n.10885G>A c.*6497G>A (n.*6497G>A) c.10740G>A (p.Leu3580=) c.10812G>A (p.Leu3604=) c.10737G>A (p.Leu3579=) c.10437G>A (p.Leu3479=) c.7701G>A (p.Leu2567=) c.6594G>A (p.Leu2198=) c.10620G>A (p.Leu3540=) c.6372G>A (p.Leu2124=) c.9600G>A (p.Leu3200=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99854129G>C | CA462458345 | VPS13B | c.10815G>C (p.Leu3605=) n.10885G>C c.*6497G>C (n.*6497G>C) c.10740G>C (p.Leu3580=) c.10812G>C (p.Leu3604=) c.10737G>C (p.Leu3579=) c.10437G>C (p.Leu3479=) c.7701G>C (p.Leu2567=) c.6594G>C (p.Leu2198=) c.10620G>C (p.Leu3540=) c.6372G>C (p.Leu2124=) c.9600G>C (p.Leu3200=) | gnomAD v4 |
| 8 | g.99854129G>T | CA462458346 | VPS13B | c.10815G>T (p.Leu3605=) n.10885G>T c.*6497G>T (n.*6497G>T) c.10740G>T (p.Leu3580=) c.10812G>T (p.Leu3604=) c.10737G>T (p.Leu3579=) c.10437G>T (p.Leu3479=) c.7701G>T (p.Leu2567=) c.6594G>T (p.Leu2198=) c.10620G>T (p.Leu3540=) c.6372G>T (p.Leu2124=) c.9600G>T (p.Leu3200=) | ClinVar dbSNP |
| 8 | g.99854130T>A | CA371785697 | VPS13B | c.10816T>A (p.Tyr3606Asn) n.10886T>A c.*6498T>A (n.*6498T>A) c.10741T>A (p.Tyr3581Asn) c.10813T>A (p.Tyr3605Asn) c.10738T>A (p.Tyr3580Asn) c.10438T>A (p.Tyr3480Asn) c.7702T>A (p.Tyr2568Asn) c.6595T>A (p.Tyr2199Asn) c.10621T>A (p.Tyr3541Asn) c.6373T>A (p.Tyr2125Asn) c.9601T>A (p.Tyr3201Asn) | |
| 8 | g.99854130T>C | CA371785703 | VPS13B | c.10816T>C (p.Tyr3606His) n.10886T>C c.*6498T>C (n.*6498T>C) c.10741T>C (p.Tyr3581His) c.10813T>C (p.Tyr3605His) c.10738T>C (p.Tyr3580His) c.10438T>C (p.Tyr3480His) c.7702T>C (p.Tyr2568His) c.6595T>C (p.Tyr2199His) c.10621T>C (p.Tyr3541His) c.6373T>C (p.Tyr2125His) c.9601T>C (p.Tyr3201His) | |
| 8 | g.99854130T>G | CA371785706 | VPS13B | c.10816T>G (p.Tyr3606Asp) n.10886T>G c.*6498T>G (n.*6498T>G) c.10741T>G (p.Tyr3581Asp) c.10813T>G (p.Tyr3605Asp) c.10738T>G (p.Tyr3580Asp) c.10438T>G (p.Tyr3480Asp) c.7702T>G (p.Tyr2568Asp) c.6595T>G (p.Tyr2199Asp) c.10621T>G (p.Tyr3541Asp) c.6373T>G (p.Tyr2125Asp) c.9601T>G (p.Tyr3201Asp) | |
| 8 | g.99854131A>C | CA371785714 | VPS13B | c.10817A>C (p.Tyr3606Ser) n.10887A>C c.*6499A>C (n.*6499A>C) c.10742A>C (p.Tyr3581Ser) c.10814A>C (p.Tyr3605Ser) c.10739A>C (p.Tyr3580Ser) c.10439A>C (p.Tyr3480Ser) c.7703A>C (p.Tyr2568Ser) c.6596A>C (p.Tyr2199Ser) c.10622A>C (p.Tyr3541Ser) c.6374A>C (p.Tyr2125Ser) c.9602A>C (p.Tyr3201Ser) | |
| 8 | g.99854131A>G | CA371785717 | VPS13B | c.10817A>G (p.Tyr3606Cys) n.10887A>G c.*6499A>G (n.*6499A>G) c.10742A>G (p.Tyr3581Cys) c.10814A>G (p.Tyr3605Cys) c.10739A>G (p.Tyr3580Cys) c.10439A>G (p.Tyr3480Cys) c.7703A>G (p.Tyr2568Cys) c.6596A>G (p.Tyr2199Cys) c.10622A>G (p.Tyr3541Cys) c.6374A>G (p.Tyr2125Cys) c.9602A>G (p.Tyr3201Cys) | gnomAD v4 |
| 8 | g.99854131A>T | CA371785720 | VPS13B | c.10817A>T (p.Tyr3606Phe) n.10887A>T c.*6499A>T (n.*6499A>T) c.10742A>T (p.Tyr3581Phe) c.10814A>T (p.Tyr3605Phe) c.10739A>T (p.Tyr3580Phe) c.10439A>T (p.Tyr3480Phe) c.7703A>T (p.Tyr2568Phe) c.6596A>T (p.Tyr2199Phe) c.10622A>T (p.Tyr3541Phe) c.6374A>T (p.Tyr2125Phe) c.9602A>T (p.Tyr3201Phe) | |
| 8 | g.99854132C>A | CA371785723 | VPS13B | c.10818C>A (p.Tyr3606Ter) n.10888C>A c.*6500C>A (n.*6500C>A) c.10743C>A (p.Tyr3581Ter) c.10815C>A (p.Tyr3605Ter) c.10740C>A (p.Tyr3580Ter) c.10440C>A (p.Tyr3480Ter) c.7704C>A (p.Tyr2568Ter) c.6597C>A (p.Tyr2199Ter) c.10623C>A (p.Tyr3541Ter) c.6375C>A (p.Tyr2125Ter) c.9603C>A (p.Tyr3201Ter) | |
| 8 | g.99854132C>G | CA371785726 | VPS13B | c.10818C>G (p.Tyr3606Ter) n.10888C>G c.*6500C>G (n.*6500C>G) c.10743C>G (p.Tyr3581Ter) c.10815C>G (p.Tyr3605Ter) c.10740C>G (p.Tyr3580Ter) c.10440C>G (p.Tyr3480Ter) c.7704C>G (p.Tyr2568Ter) c.6597C>G (p.Tyr2199Ter) c.10623C>G (p.Tyr3541Ter) c.6375C>G (p.Tyr2125Ter) c.9603C>G (p.Tyr3201Ter) | gnomAD v4 |
| 8 | g.99854132C>T | CA462458347 | VPS13B | c.10818C>T (p.Tyr3606=) n.10888C>T c.*6500C>T (n.*6500C>T) c.10743C>T (p.Tyr3581=) c.10815C>T (p.Tyr3605=) c.10740C>T (p.Tyr3580=) c.10440C>T (p.Tyr3480=) c.7704C>T (p.Tyr2568=) c.6597C>T (p.Tyr2199=) c.10623C>T (p.Tyr3541=) c.6375C>T (p.Tyr2125=) c.9603C>T (p.Tyr3201=) | ClinVar |
| 8 | g.99854133A>C | CA371785730 | VPS13B | c.10819A>C (p.Ile3607Leu) n.10889A>C c.*6501A>C (n.*6501A>C) c.10744A>C (p.Ile3582Leu) c.10816A>C (p.Ile3606Leu) c.10741A>C (p.Ile3581Leu) c.10441A>C (p.Ile3481Leu) c.7705A>C (p.Ile2569Leu) c.6598A>C (p.Ile2200Leu) c.10624A>C (p.Ile3542Leu) c.6376A>C (p.Ile2126Leu) c.9604A>C (p.Ile3202Leu) | |
| 8 | g.99854133A>G | CA223343 | VPS13B | c.10819A>G (p.Ile3607Val) n.10889A>G c.*6501A>G (n.*6501A>G) c.10744A>G (p.Ile3582Val) c.10816A>G (p.Ile3606Val) c.10741A>G (p.Ile3581Val) c.10441A>G (p.Ile3481Val) c.7705A>G (p.Ile2569Val) c.6598A>G (p.Ile2200Val) c.10624A>G (p.Ile3542Val) c.6376A>G (p.Ile2126Val) c.9604A>G (p.Ile3202Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99854133A>T | CA371785733 | VPS13B | c.10819A>T (p.Ile3607Leu) n.10889A>T c.*6501A>T (n.*6501A>T) c.10744A>T (p.Ile3582Leu) c.10816A>T (p.Ile3606Leu) c.10741A>T (p.Ile3581Leu) c.10441A>T (p.Ile3481Leu) c.7705A>T (p.Ile2569Leu) c.6598A>T (p.Ile2200Leu) c.10624A>T (p.Ile3542Leu) c.6376A>T (p.Ile2126Leu) c.9604A>T (p.Ile3202Leu) | |
| 8 | g.99854134T>A | CA371785739 | VPS13B | c.10820T>A (p.Ile3607Lys) n.10890T>A c.*6502T>A (n.*6502T>A) c.10745T>A (p.Ile3582Lys) c.10817T>A (p.Ile3606Lys) c.10742T>A (p.Ile3581Lys) c.10442T>A (p.Ile3481Lys) c.7706T>A (p.Ile2569Lys) c.6599T>A (p.Ile2200Lys) c.10625T>A (p.Ile3542Lys) c.6377T>A (p.Ile2126Lys) c.9605T>A (p.Ile3202Lys) | |
| 8 | g.99854134T>C | CA371785736 | VPS13B | c.10820T>C (p.Ile3607Thr) n.10890T>C c.*6502T>C (n.*6502T>C) c.10745T>C (p.Ile3582Thr) c.10817T>C (p.Ile3606Thr) c.10742T>C (p.Ile3581Thr) c.10442T>C (p.Ile3481Thr) c.7706T>C (p.Ile2569Thr) c.6599T>C (p.Ile2200Thr) c.10625T>C (p.Ile3542Thr) c.6377T>C (p.Ile2126Thr) c.9605T>C (p.Ile3202Thr) | dbSNP gnomAD v4 |
| 8 | g.99854134T>G | CA371785734 | VPS13B | c.10820T>G (p.Ile3607Arg) n.10890T>G c.*6502T>G (n.*6502T>G) c.10745T>G (p.Ile3582Arg) c.10817T>G (p.Ile3606Arg) c.10742T>G (p.Ile3581Arg) c.10442T>G (p.Ile3481Arg) c.7706T>G (p.Ile2569Arg) c.6599T>G (p.Ile2200Arg) c.10625T>G (p.Ile3542Arg) c.6377T>G (p.Ile2126Arg) c.9605T>G (p.Ile3202Arg) | |
| 8 | g.99854135A>C | CA462458351 | VPS13B | c.10821A>C (p.Ile3607=) n.10891A>C c.*6503A>C (n.*6503A>C) c.10746A>C (p.Ile3582=) c.10818A>C (p.Ile3606=) c.10743A>C (p.Ile3581=) c.10443A>C (p.Ile3481=) c.7707A>C (p.Ile2569=) c.6600A>C (p.Ile2200=) c.10626A>C (p.Ile3542=) c.6378A>C (p.Ile2126=) c.9606A>C (p.Ile3202=) | |
| 8 | g.99854135A>G | CA371785742 | VPS13B | c.10821A>G (p.Ile3607Met) n.10891A>G c.*6503A>G (n.*6503A>G) c.10746A>G (p.Ile3582Met) c.10818A>G (p.Ile3606Met) c.10743A>G (p.Ile3581Met) c.10443A>G (p.Ile3481Met) c.7707A>G (p.Ile2569Met) c.6600A>G (p.Ile2200Met) c.10626A>G (p.Ile3542Met) c.6378A>G (p.Ile2126Met) c.9606A>G (p.Ile3202Met) | |
| 8 | g.99854135A>T | CA462458349 | VPS13B | c.10821A>T (p.Ile3607=) n.10891A>T c.*6503A>T (n.*6503A>T) c.10746A>T (p.Ile3582=) c.10818A>T (p.Ile3606=) c.10743A>T (p.Ile3581=) c.10443A>T (p.Ile3481=) c.7707A>T (p.Ile2569=) c.6600A>T (p.Ile2200=) c.10626A>T (p.Ile3542=) c.6378A>T (p.Ile2126=) c.9606A>T (p.Ile3202=) | |
| 8 | g.99854136G>A | CA371785751 | VPS13B | c.10822G>A (p.Ala3608Thr) n.10892G>A c.*6504G>A (n.*6504G>A) c.10747G>A (p.Ala3583Thr) c.10819G>A (p.Ala3607Thr) c.10744G>A (p.Ala3582Thr) c.10444G>A (p.Ala3482Thr) c.7708G>A (p.Ala2570Thr) c.6601G>A (p.Ala2201Thr) c.10627G>A (p.Ala3543Thr) c.6379G>A (p.Ala2127Thr) c.9607G>A (p.Ala3203Thr) | |
| 8 | g.99854136G>C | CA371785748 | VPS13B | c.10822G>C (p.Ala3608Pro) n.10892G>C c.*6504G>C (n.*6504G>C) c.10747G>C (p.Ala3583Pro) c.10819G>C (p.Ala3607Pro) c.10744G>C (p.Ala3582Pro) c.10444G>C (p.Ala3482Pro) c.7708G>C (p.Ala2570Pro) c.6601G>C (p.Ala2201Pro) c.10627G>C (p.Ala3543Pro) c.6379G>C (p.Ala2127Pro) c.9607G>C (p.Ala3203Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99854136G>T | CA371785750 | VPS13B | c.10822G>T (p.Ala3608Ser) n.10892G>T c.*6504G>T (n.*6504G>T) c.10747G>T (p.Ala3583Ser) c.10819G>T (p.Ala3607Ser) c.10744G>T (p.Ala3582Ser) c.10444G>T (p.Ala3482Ser) c.7708G>T (p.Ala2570Ser) c.6601G>T (p.Ala2201Ser) c.10627G>T (p.Ala3543Ser) c.6379G>T (p.Ala2127Ser) c.9607G>T (p.Ala3203Ser) | |
| 8 | g.99854137C>A | CA371785752 | VPS13B | c.10823C>A (p.Ala3608Asp) n.10893C>A c.*6505C>A (n.*6505C>A) c.10748C>A (p.Ala3583Asp) c.10820C>A (p.Ala3607Asp) c.10745C>A (p.Ala3582Asp) c.10445C>A (p.Ala3482Asp) c.7709C>A (p.Ala2570Asp) c.6602C>A (p.Ala2201Asp) c.10628C>A (p.Ala3543Asp) c.6380C>A (p.Ala2127Asp) c.9608C>A (p.Ala3203Asp) | |
| 8 | g.99854137C>G | CA371785754 | VPS13B | c.10823C>G (p.Ala3608Gly) n.10893C>G c.*6505C>G (n.*6505C>G) c.10748C>G (p.Ala3583Gly) c.10820C>G (p.Ala3607Gly) c.10745C>G (p.Ala3582Gly) c.10445C>G (p.Ala3482Gly) c.7709C>G (p.Ala2570Gly) c.6602C>G (p.Ala2201Gly) c.10628C>G (p.Ala3543Gly) c.6380C>G (p.Ala2127Gly) c.9608C>G (p.Ala3203Gly) | |
| 8 | g.99854137C>T | CA182314816 | VPS13B | c.10823C>T (p.Ala3608Val) n.10893C>T c.*6505C>T (n.*6505C>T) c.10748C>T (p.Ala3583Val) c.10820C>T (p.Ala3607Val) c.10745C>T (p.Ala3582Val) c.10445C>T (p.Ala3482Val) c.7709C>T (p.Ala2570Val) c.6602C>T (p.Ala2201Val) c.10628C>T (p.Ala3543Val) c.6380C>T (p.Ala2127Val) c.9608C>T (p.Ala3203Val) | dbSNP gnomAD v4 |
| 8 | g.99854138C>A | CA462458352 | VPS13B | c.10824C>A (p.Ala3608=) n.10894C>A c.*6506C>A (n.*6506C>A) c.10749C>A (p.Ala3583=) c.10821C>A (p.Ala3607=) c.10746C>A (p.Ala3582=) c.10446C>A (p.Ala3482=) c.7710C>A (p.Ala2570=) c.6603C>A (p.Ala2201=) c.10629C>A (p.Ala3543=) c.6381C>A (p.Ala2127=) c.9609C>A (p.Ala3203=) | |
| 8 | g.99854138C>G | CA462458354 | VPS13B | c.10824C>G (p.Ala3608=) n.10894C>G c.*6506C>G (n.*6506C>G) c.10749C>G (p.Ala3583=) c.10821C>G (p.Ala3607=) c.10746C>G (p.Ala3582=) c.10446C>G (p.Ala3482=) c.7710C>G (p.Ala2570=) c.6603C>G (p.Ala2201=) c.10629C>G (p.Ala3543=) c.6381C>G (p.Ala2127=) c.9609C>G (p.Ala3203=) | |
| 8 | g.99854138C>T | CA462458355 | VPS13B | c.10824C>T (p.Ala3608=) n.10894C>T c.*6506C>T (n.*6506C>T) c.10749C>T (p.Ala3583=) c.10821C>T (p.Ala3607=) c.10746C>T (p.Ala3582=) c.10446C>T (p.Ala3482=) c.7710C>T (p.Ala2570=) c.6603C>T (p.Ala2201=) c.10629C>T (p.Ala3543=) c.6381C>T (p.Ala2127=) c.9609C>T (p.Ala3203=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99854139T>A | CA371785766 | VPS13B | c.10825T>A (p.Ser3609Thr) n.10895T>A c.*6507T>A (n.*6507T>A) c.10750T>A (p.Ser3584Thr) c.10822T>A (p.Ser3608Thr) c.10747T>A (p.Ser3583Thr) c.10447T>A (p.Ser3483Thr) c.7711T>A (p.Ser2571Thr) c.6604T>A (p.Ser2202Thr) c.10630T>A (p.Ser3544Thr) c.6382T>A (p.Ser2128Thr) c.9610T>A (p.Ser3204Thr) | |
| 8 | g.99854139T>C | CA371785765 | VPS13B | c.10825T>C (p.Ser3609Pro) n.10895T>C c.*6507T>C (n.*6507T>C) c.10750T>C (p.Ser3584Pro) c.10822T>C (p.Ser3608Pro) c.10747T>C (p.Ser3583Pro) c.10447T>C (p.Ser3483Pro) c.7711T>C (p.Ser2571Pro) c.6604T>C (p.Ser2202Pro) c.10630T>C (p.Ser3544Pro) c.6382T>C (p.Ser2128Pro) c.9610T>C (p.Ser3204Pro) | |
| 8 | g.99854139T>G | CA371785762 | VPS13B | c.10825T>G (p.Ser3609Ala) n.10895T>G c.*6507T>G (n.*6507T>G) c.10750T>G (p.Ser3584Ala) c.10822T>G (p.Ser3608Ala) c.10747T>G (p.Ser3583Ala) c.10447T>G (p.Ser3483Ala) c.7711T>G (p.Ser2571Ala) c.6604T>G (p.Ser2202Ala) c.10630T>G (p.Ser3544Ala) c.6382T>G (p.Ser2128Ala) c.9610T>G (p.Ser3204Ala) | |
| 8 | g.99854140C>A | CA371785772 | VPS13B | c.10826C>A (p.Ser3609Ter) n.10896C>A c.*6508C>A (n.*6508C>A) c.10751C>A (p.Ser3584Ter) c.10823C>A (p.Ser3608Ter) c.10748C>A (p.Ser3583Ter) c.10448C>A (p.Ser3483Ter) c.7712C>A (p.Ser2571Ter) c.6605C>A (p.Ser2202Ter) c.10631C>A (p.Ser3544Ter) c.6383C>A (p.Ser2128Ter) c.9611C>A (p.Ser3204Ter) | |
| 8 | g.99854140C>G | CA371785775 | VPS13B | c.10826C>G (p.Ser3609Ter) n.10896C>G c.*6508C>G (n.*6508C>G) c.10751C>G (p.Ser3584Ter) c.10823C>G (p.Ser3608Ter) c.10748C>G (p.Ser3583Ter) c.10448C>G (p.Ser3483Ter) c.7712C>G (p.Ser2571Ter) c.6605C>G (p.Ser2202Ter) c.10631C>G (p.Ser3544Ter) c.6383C>G (p.Ser2128Ter) c.9611C>G (p.Ser3204Ter) |