UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99861912_99861916del | CA2688072163 | VPS13B | c.*350_*354del (n.*350_*354del) n.11326_11330del c.*6938_*6942del (n.*6938_*6942del) c.11181_11185del (p.Gln3728ProfsTer17) c.11256_11260del (p.Gln3753ProfsTer17) c.11253_11257del (p.Gln3752ProfsTer17) c.11178_11182del (p.Gln3727ProfsTer17) c.10878_10882del (p.Gln3627ProfsTer17) c.8142_8146del (p.Gln2715ProfsTer17) c.7035_7039del (p.Gln2346ProfsTer17) c.11061_11065del (p.Gln3688ProfsTer17) c.6813_6817del (p.Gln2272ProfsTer17) c.10041_10045del (p.Gln3348ProfsTer17) | gnomAD v4 |
| 8 | g.99861912A= | CA2580832419 | VPS13B | c.*350A= (n.*350A=) n.11326A= c.*6938A= (n.*6938A=) c.11181A= (p.Arg3727=) c.11256A= (p.Arg3752=) c.11253A= (p.Arg3751=) c.11178A= (p.Arg3726=) c.10878A= (p.Arg3626=) c.8142A= (p.Arg2714=) c.7035A= (p.Arg2345=) c.11061A= (p.Arg3687=) c.6813A= (p.Arg2271=) c.10041A= (p.Arg3347=) | |
| 8 | g.99861912A>C | CA462338455 | VPS13B | c.*350A>C (n.*350A>C) n.11326A>C c.*6938A>C (n.*6938A>C) c.11181A>C (p.Arg3727=) c.11256A>C (p.Arg3752=) c.11253A>C (p.Arg3751=) c.11178A>C (p.Arg3726=) c.10878A>C (p.Arg3626=) c.8142A>C (p.Arg2714=) c.7035A>C (p.Arg2345=) c.11061A>C (p.Arg3687=) c.6813A>C (p.Arg2271=) c.10041A>C (p.Arg3347=) | |
| 8 | g.99861912A>G | CA4825161 | VPS13B | c.*350A>G (n.*350A>G) n.11326A>G c.*6938A>G (n.*6938A>G) c.11181A>G (p.Arg3727=) c.11256A>G (p.Arg3752=) c.11253A>G (p.Arg3751=) c.11178A>G (p.Arg3726=) c.10878A>G (p.Arg3626=) c.8142A>G (p.Arg2714=) c.7035A>G (p.Arg2345=) c.11061A>G (p.Arg3687=) c.6813A>G (p.Arg2271=) c.10041A>G (p.Arg3347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861912A>T | CA462338458 | VPS13B | c.*350A>T (n.*350A>T) n.11326A>T c.*6938A>T (n.*6938A>T) c.11181A>T (p.Arg3727=) c.11256A>T (p.Arg3752=) c.11253A>T (p.Arg3751=) c.11178A>T (p.Arg3726=) c.10878A>T (p.Arg3626=) c.8142A>T (p.Arg2714=) c.7035A>T (p.Arg2345=) c.11061A>T (p.Arg3687=) c.6813A>T (p.Arg2271=) c.10041A>T (p.Arg3347=) | |
| 8 | g.99861912_99861956del | CA857605273 | VPS13B | c.*350_*384+10del n.11326_11360+10del c.*6938_*6972+10del c.11181_11215+10del c.11256_11290+10del c.11253_11287+10del c.11178_11212+10del c.10878_10912+10del c.8142_8176+10del c.7035_7069+10del c.11061_11095+10del c.6813_6847+10del c.10041_10075+10del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99861913C>A | CA371790698 | VPS13B | c.*351C>A (n.*351C>A) n.11327C>A c.*6939C>A (n.*6939C>A) c.11182C>A (p.Gln3728Lys) c.11257C>A (p.Gln3753Lys) c.11254C>A (p.Gln3752Lys) c.11179C>A (p.Gln3727Lys) c.10879C>A (p.Gln3627Lys) c.8143C>A (p.Gln2715Lys) c.7036C>A (p.Gln2346Lys) c.11062C>A (p.Gln3688Lys) c.6814C>A (p.Gln2272Lys) c.10042C>A (p.Gln3348Lys) | |
| 8 | g.99861913C>G | CA371790700 | VPS13B | c.*351C>G (n.*351C>G) n.11327C>G c.*6939C>G (n.*6939C>G) c.11182C>G (p.Gln3728Glu) c.11257C>G (p.Gln3753Glu) c.11254C>G (p.Gln3752Glu) c.11179C>G (p.Gln3727Glu) c.10879C>G (p.Gln3627Glu) c.8143C>G (p.Gln2715Glu) c.7036C>G (p.Gln2346Glu) c.11062C>G (p.Gln3688Glu) c.6814C>G (p.Gln2272Glu) c.10042C>G (p.Gln3348Glu) | |
| 8 | g.99861913C>T | CA371790699 | VPS13B | c.*351C>T (n.*351C>T) n.11327C>T c.*6939C>T (n.*6939C>T) c.11182C>T (p.Gln3728Ter) c.11257C>T (p.Gln3753Ter) c.11254C>T (p.Gln3752Ter) c.11179C>T (p.Gln3727Ter) c.10879C>T (p.Gln3627Ter) c.8143C>T (p.Gln2715Ter) c.7036C>T (p.Gln2346Ter) c.11062C>T (p.Gln3688Ter) c.6814C>T (p.Gln2272Ter) c.10042C>T (p.Gln3348Ter) | |
| 8 | g.99861914A>C | CA371790701 | VPS13B | c.*352A>C (n.*352A>C) n.11328A>C c.*6940A>C (n.*6940A>C) c.11183A>C (p.Gln3728Pro) c.11258A>C (p.Gln3753Pro) c.11255A>C (p.Gln3752Pro) c.11180A>C (p.Gln3727Pro) c.10880A>C (p.Gln3627Pro) c.8144A>C (p.Gln2715Pro) c.7037A>C (p.Gln2346Pro) c.11063A>C (p.Gln3688Pro) c.6815A>C (p.Gln2272Pro) c.10043A>C (p.Gln3348Pro) | |
| 8 | g.99861914A>G | CA371790702 | VPS13B | c.*352A>G (n.*352A>G) n.11328A>G c.*6940A>G (n.*6940A>G) c.11183A>G (p.Gln3728Arg) c.11258A>G (p.Gln3753Arg) c.11255A>G (p.Gln3752Arg) c.11180A>G (p.Gln3727Arg) c.10880A>G (p.Gln3627Arg) c.8144A>G (p.Gln2715Arg) c.7037A>G (p.Gln2346Arg) c.11063A>G (p.Gln3688Arg) c.6815A>G (p.Gln2272Arg) c.10043A>G (p.Gln3348Arg) | |
| 8 | g.99861914A>T | CA371790703 | VPS13B | c.*352A>T (n.*352A>T) n.11328A>T c.*6940A>T (n.*6940A>T) c.11183A>T (p.Gln3728Leu) c.11258A>T (p.Gln3753Leu) c.11255A>T (p.Gln3752Leu) c.11180A>T (p.Gln3727Leu) c.10880A>T (p.Gln3627Leu) c.8144A>T (p.Gln2715Leu) c.7037A>T (p.Gln2346Leu) c.11063A>T (p.Gln3688Leu) c.6815A>T (p.Gln2272Leu) c.10043A>T (p.Gln3348Leu) | |
| 8 | g.99861915G>A | CA462338472 | VPS13B | c.*353G>A (n.*353G>A) n.11329G>A c.*6941G>A (n.*6941G>A) c.11184G>A (p.Gln3728=) c.11259G>A (p.Gln3753=) c.11256G>A (p.Gln3752=) c.11181G>A (p.Gln3727=) c.10881G>A (p.Gln3627=) c.8145G>A (p.Gln2715=) c.7038G>A (p.Gln2346=) c.11064G>A (p.Gln3688=) c.6816G>A (p.Gln2272=) c.10044G>A (p.Gln3348=) | dbSNP |
| 8 | g.99861915G>C | CA371790704 | VPS13B | c.*353G>C (n.*353G>C) n.11329G>C c.*6941G>C (n.*6941G>C) c.11184G>C (p.Gln3728His) c.11259G>C (p.Gln3753His) c.11256G>C (p.Gln3752His) c.11181G>C (p.Gln3727His) c.10881G>C (p.Gln3627His) c.8145G>C (p.Gln2715His) c.7038G>C (p.Gln2346His) c.11064G>C (p.Gln3688His) c.6816G>C (p.Gln2272His) c.10044G>C (p.Gln3348His) | |
| 8 | g.99861915G>T | CA371790705 | VPS13B | c.*353G>T (n.*353G>T) n.11329G>T c.*6941G>T (n.*6941G>T) c.11184G>T (p.Gln3728His) c.11259G>T (p.Gln3753His) c.11256G>T (p.Gln3752His) c.11181G>T (p.Gln3727His) c.10881G>T (p.Gln3627His) c.8145G>T (p.Gln2715His) c.7038G>T (p.Gln2346His) c.11064G>T (p.Gln3688His) c.6816G>T (p.Gln2272His) c.10044G>T (p.Gln3348His) | gnomAD v4 COSMIC COSMIC |
| 8 | g.99861916G>A | CA371790706 | VPS13B | c.*354G>A (n.*354G>A) n.11330G>A c.*6942G>A (n.*6942G>A) c.11185G>A (p.Gly3729Ser) c.11260G>A (p.Gly3754Ser) c.11257G>A (p.Gly3753Ser) c.11182G>A (p.Gly3728Ser) c.10882G>A (p.Gly3628Ser) c.8146G>A (p.Gly2716Ser) c.7039G>A (p.Gly2347Ser) c.11065G>A (p.Gly3689Ser) c.6817G>A (p.Gly2273Ser) c.10045G>A (p.Gly3349Ser) | |
| 8 | g.99861916G>C | CA371790707 | VPS13B | c.*354G>C (n.*354G>C) n.11330G>C c.*6942G>C (n.*6942G>C) c.11185G>C (p.Gly3729Arg) c.11260G>C (p.Gly3754Arg) c.11257G>C (p.Gly3753Arg) c.11182G>C (p.Gly3728Arg) c.10882G>C (p.Gly3628Arg) c.8146G>C (p.Gly2716Arg) c.7039G>C (p.Gly2347Arg) c.11065G>C (p.Gly3689Arg) c.6817G>C (p.Gly2273Arg) c.10045G>C (p.Gly3349Arg) | COSMIC COSMIC |
| 8 | g.99861916G>T | CA371790708 | VPS13B | c.*354G>T (n.*354G>T) n.11330G>T c.*6942G>T (n.*6942G>T) c.11185G>T (p.Gly3729Cys) c.11260G>T (p.Gly3754Cys) c.11257G>T (p.Gly3753Cys) c.11182G>T (p.Gly3728Cys) c.10882G>T (p.Gly3628Cys) c.8146G>T (p.Gly2716Cys) c.7039G>T (p.Gly2347Cys) c.11065G>T (p.Gly3689Cys) c.6817G>T (p.Gly2273Cys) c.10045G>T (p.Gly3349Cys) | |
| 8 | g.99861917G>A | CA371790709 | VPS13B | c.*355G>A (n.*355G>A) n.11331G>A c.*6943G>A (n.*6943G>A) c.11186G>A (p.Gly3729Asp) c.11261G>A (p.Gly3754Asp) c.11258G>A (p.Gly3753Asp) c.11183G>A (p.Gly3728Asp) c.10883G>A (p.Gly3628Asp) c.8147G>A (p.Gly2716Asp) c.7040G>A (p.Gly2347Asp) c.11066G>A (p.Gly3689Asp) c.6818G>A (p.Gly2273Asp) c.10046G>A (p.Gly3349Asp) | gnomAD v4 |
| 8 | g.99861917G>C | CA371790710 | VPS13B | c.*355G>C (n.*355G>C) n.11331G>C c.*6943G>C (n.*6943G>C) c.11186G>C (p.Gly3729Ala) c.11261G>C (p.Gly3754Ala) c.11258G>C (p.Gly3753Ala) c.11183G>C (p.Gly3728Ala) c.10883G>C (p.Gly3628Ala) c.8147G>C (p.Gly2716Ala) c.7040G>C (p.Gly2347Ala) c.11066G>C (p.Gly3689Ala) c.6818G>C (p.Gly2273Ala) c.10046G>C (p.Gly3349Ala) | |
| 8 | g.99861917G>T | CA371790711 | VPS13B | c.*355G>T (n.*355G>T) n.11331G>T c.*6943G>T (n.*6943G>T) c.11186G>T (p.Gly3729Val) c.11261G>T (p.Gly3754Val) c.11258G>T (p.Gly3753Val) c.11183G>T (p.Gly3728Val) c.10883G>T (p.Gly3628Val) c.8147G>T (p.Gly2716Val) c.7040G>T (p.Gly2347Val) c.11066G>T (p.Gly3689Val) c.6818G>T (p.Gly2273Val) c.10046G>T (p.Gly3349Val) | |
| 8 | g.99861918C>A | CA462338490 | VPS13B | c.*356C>A (n.*356C>A) n.11332C>A c.*6944C>A (n.*6944C>A) c.11187C>A (p.Gly3729=) c.11262C>A (p.Gly3754=) c.11259C>A (p.Gly3753=) c.11184C>A (p.Gly3728=) c.10884C>A (p.Gly3628=) c.8148C>A (p.Gly2716=) c.7041C>A (p.Gly2347=) c.11067C>A (p.Gly3689=) c.6819C>A (p.Gly2273=) c.10047C>A (p.Gly3349=) | gnomAD v4 |
| 8 | g.99861918C>G | CA462338492 | VPS13B | c.*356C>G (n.*356C>G) n.11332C>G c.*6944C>G (n.*6944C>G) c.11187C>G (p.Gly3729=) c.11262C>G (p.Gly3754=) c.11259C>G (p.Gly3753=) c.11184C>G (p.Gly3728=) c.10884C>G (p.Gly3628=) c.8148C>G (p.Gly2716=) c.7041C>G (p.Gly2347=) c.11067C>G (p.Gly3689=) c.6819C>G (p.Gly2273=) c.10047C>G (p.Gly3349=) | ClinVar |
| 8 | g.99861918C>T | CA462338494 | VPS13B | c.*356C>T (n.*356C>T) n.11332C>T c.*6944C>T (n.*6944C>T) c.11187C>T (p.Gly3729=) c.11262C>T (p.Gly3754=) c.11259C>T (p.Gly3753=) c.11184C>T (p.Gly3728=) c.10884C>T (p.Gly3628=) c.8148C>T (p.Gly2716=) c.7041C>T (p.Gly2347=) c.11067C>T (p.Gly3689=) c.6819C>T (p.Gly2273=) c.10047C>T (p.Gly3349=) | dbSNP gnomAD v4 |
| 8 | g.99861919C>A | CA371790712 | VPS13B | c.*357C>A (n.*357C>A) n.11333C>A c.*6945C>A (n.*6945C>A) c.11188C>A (p.Leu3730Met) c.11263C>A (p.Leu3755Met) c.11260C>A (p.Leu3754Met) c.11185C>A (p.Leu3729Met) c.10885C>A (p.Leu3629Met) c.8149C>A (p.Leu2717Met) c.7042C>A (p.Leu2348Met) c.11068C>A (p.Leu3690Met) c.6820C>A (p.Leu2274Met) c.10048C>A (p.Leu3350Met) | gnomAD v4 |
| 8 | g.99861919C>G | CA371790713 | VPS13B | c.*357C>G (n.*357C>G) n.11333C>G c.*6945C>G (n.*6945C>G) c.11188C>G (p.Leu3730Val) c.11263C>G (p.Leu3755Val) c.11260C>G (p.Leu3754Val) c.11185C>G (p.Leu3729Val) c.10885C>G (p.Leu3629Val) c.8149C>G (p.Leu2717Val) c.7042C>G (p.Leu2348Val) c.11068C>G (p.Leu3690Val) c.6820C>G (p.Leu2274Val) c.10048C>G (p.Leu3350Val) | |
| 8 | g.99861919C>T | CA4825162 | VPS13B | c.*357C>T (n.*357C>T) n.11333C>T c.*6945C>T (n.*6945C>T) c.11188C>T (p.Leu3730=) c.11263C>T (p.Leu3755=) c.11260C>T (p.Leu3754=) c.11185C>T (p.Leu3729=) c.10885C>T (p.Leu3629=) c.8149C>T (p.Leu2717=) c.7042C>T (p.Leu2348=) c.11068C>T (p.Leu3690=) c.6820C>T (p.Leu2274=) c.10048C>T (p.Leu3350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861920T>A | CA371790715 | VPS13B | c.*358T>A (n.*358T>A) n.11334T>A c.*6946T>A (n.*6946T>A) c.11189T>A (p.Leu3730Gln) c.11264T>A (p.Leu3755Gln) c.11261T>A (p.Leu3754Gln) c.11186T>A (p.Leu3729Gln) c.10886T>A (p.Leu3629Gln) c.8150T>A (p.Leu2717Gln) c.7043T>A (p.Leu2348Gln) c.11069T>A (p.Leu3690Gln) c.6821T>A (p.Leu2274Gln) c.10049T>A (p.Leu3350Gln) | |
| 8 | g.99861920T>C | CA371790714 | VPS13B | c.*358T>C (n.*358T>C) n.11334T>C c.*6946T>C (n.*6946T>C) c.11189T>C (p.Leu3730Pro) c.11264T>C (p.Leu3755Pro) c.11261T>C (p.Leu3754Pro) c.11186T>C (p.Leu3729Pro) c.10886T>C (p.Leu3629Pro) c.8150T>C (p.Leu2717Pro) c.7043T>C (p.Leu2348Pro) c.11069T>C (p.Leu3690Pro) c.6821T>C (p.Leu2274Pro) c.10049T>C (p.Leu3350Pro) | gnomAD v4 |
| 8 | g.99861920T>G | CA371790716 | VPS13B | c.*358T>G (n.*358T>G) n.11334T>G c.*6946T>G (n.*6946T>G) c.11189T>G (p.Leu3730Arg) c.11264T>G (p.Leu3755Arg) c.11261T>G (p.Leu3754Arg) c.11186T>G (p.Leu3729Arg) c.10886T>G (p.Leu3629Arg) c.8150T>G (p.Leu2717Arg) c.7043T>G (p.Leu2348Arg) c.11069T>G (p.Leu3690Arg) c.6821T>G (p.Leu2274Arg) c.10049T>G (p.Leu3350Arg) | |
| 8 | g.99861921G>A | CA462338507 | VPS13B | c.*359G>A (n.*359G>A) n.11335G>A c.*6947G>A (n.*6947G>A) c.11190G>A (p.Leu3730=) c.11265G>A (p.Leu3755=) c.11262G>A (p.Leu3754=) c.11187G>A (p.Leu3729=) c.10887G>A (p.Leu3629=) c.8151G>A (p.Leu2717=) c.7044G>A (p.Leu2348=) c.11070G>A (p.Leu3690=) c.6822G>A (p.Leu2274=) c.10050G>A (p.Leu3350=) | |
| 8 | g.99861921G>C | CA462338509 | VPS13B | c.*359G>C (n.*359G>C) n.11335G>C c.*6947G>C (n.*6947G>C) c.11190G>C (p.Leu3730=) c.11265G>C (p.Leu3755=) c.11262G>C (p.Leu3754=) c.11187G>C (p.Leu3729=) c.10887G>C (p.Leu3629=) c.8151G>C (p.Leu2717=) c.7044G>C (p.Leu2348=) c.11070G>C (p.Leu3690=) c.6822G>C (p.Leu2274=) c.10050G>C (p.Leu3350=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861921G>T | CA462338512 | VPS13B | c.*359G>T (n.*359G>T) n.11335G>T c.*6947G>T (n.*6947G>T) c.11190G>T (p.Leu3730=) c.11265G>T (p.Leu3755=) c.11262G>T (p.Leu3754=) c.11187G>T (p.Leu3729=) c.10887G>T (p.Leu3629=) c.8151G>T (p.Leu2717=) c.7044G>T (p.Leu2348=) c.11070G>T (p.Leu3690=) c.6822G>T (p.Leu2274=) c.10050G>T (p.Leu3350=) | |
| 8 | g.99861922T>A | CA371790717 | VPS13B | c.*360T>A (n.*360T>A) n.11336T>A c.*6948T>A (n.*6948T>A) c.11191T>A (p.Ser3731Thr) c.11266T>A (p.Ser3756Thr) c.11263T>A (p.Ser3755Thr) c.11188T>A (p.Ser3730Thr) c.10888T>A (p.Ser3630Thr) c.8152T>A (p.Ser2718Thr) c.7045T>A (p.Ser2349Thr) c.11071T>A (p.Ser3691Thr) c.6823T>A (p.Ser2275Thr) c.10051T>A (p.Ser3351Thr) | gnomAD v4 |
| 8 | g.99861922T>C | CA371790718 | VPS13B | c.*360T>C (n.*360T>C) n.11336T>C c.*6948T>C (n.*6948T>C) c.11191T>C (p.Ser3731Pro) c.11266T>C (p.Ser3756Pro) c.11263T>C (p.Ser3755Pro) c.11188T>C (p.Ser3730Pro) c.10888T>C (p.Ser3630Pro) c.8152T>C (p.Ser2718Pro) c.7045T>C (p.Ser2349Pro) c.11071T>C (p.Ser3691Pro) c.6823T>C (p.Ser2275Pro) c.10051T>C (p.Ser3351Pro) | ClinVar dbSNP |
| 8 | g.99861922T>G | CA371790719 | VPS13B | c.*360T>G (n.*360T>G) n.11336T>G c.*6948T>G (n.*6948T>G) c.11191T>G (p.Ser3731Ala) c.11266T>G (p.Ser3756Ala) c.11263T>G (p.Ser3755Ala) c.11188T>G (p.Ser3730Ala) c.10888T>G (p.Ser3630Ala) c.8152T>G (p.Ser2718Ala) c.7045T>G (p.Ser2349Ala) c.11071T>G (p.Ser3691Ala) c.6823T>G (p.Ser2275Ala) c.10051T>G (p.Ser3351Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99861923C>A | CA371790720 | VPS13B | c.*361C>A (n.*361C>A) n.11337C>A c.*6949C>A (n.*6949C>A) c.11192C>A (p.Ser3731Tyr) c.11267C>A (p.Ser3756Tyr) c.11264C>A (p.Ser3755Tyr) c.11189C>A (p.Ser3730Tyr) c.10889C>A (p.Ser3630Tyr) c.8153C>A (p.Ser2718Tyr) c.7046C>A (p.Ser2349Tyr) c.11072C>A (p.Ser3691Tyr) c.6824C>A (p.Ser2275Tyr) c.10052C>A (p.Ser3351Tyr) | gnomAD v4 |
| 8 | g.99861923C>G | CA371790721 | VPS13B | c.*361C>G (n.*361C>G) n.11337C>G c.*6949C>G (n.*6949C>G) c.11192C>G (p.Ser3731Cys) c.11267C>G (p.Ser3756Cys) c.11264C>G (p.Ser3755Cys) c.11189C>G (p.Ser3730Cys) c.10889C>G (p.Ser3630Cys) c.8153C>G (p.Ser2718Cys) c.7046C>G (p.Ser2349Cys) c.11072C>G (p.Ser3691Cys) c.6824C>G (p.Ser2275Cys) c.10052C>G (p.Ser3351Cys) | |
| 8 | g.99861923C>T | CA371790722 | VPS13B | c.*361C>T (n.*361C>T) n.11337C>T c.*6949C>T (n.*6949C>T) c.11192C>T (p.Ser3731Phe) c.11267C>T (p.Ser3756Phe) c.11264C>T (p.Ser3755Phe) c.11189C>T (p.Ser3730Phe) c.10889C>T (p.Ser3630Phe) c.8153C>T (p.Ser2718Phe) c.7046C>T (p.Ser2349Phe) c.11072C>T (p.Ser3691Phe) c.6824C>T (p.Ser2275Phe) c.10052C>T (p.Ser3351Phe) | dbSNP gnomAD v4 |
| 8 | g.99861924C>A | CA462338523 | VPS13B | c.*362C>A (n.*362C>A) n.11338C>A c.*6950C>A (n.*6950C>A) c.11193C>A (p.Ser3731=) c.11268C>A (p.Ser3756=) c.11265C>A (p.Ser3755=) c.11190C>A (p.Ser3730=) c.10890C>A (p.Ser3630=) c.8154C>A (p.Ser2718=) c.7047C>A (p.Ser2349=) c.11073C>A (p.Ser3691=) c.6825C>A (p.Ser2275=) c.10053C>A (p.Ser3351=) | gnomAD v4 |
| 8 | g.99861924C>G | CA462338526 | VPS13B | c.*362C>G (n.*362C>G) n.11338C>G c.*6950C>G (n.*6950C>G) c.11193C>G (p.Ser3731=) c.11268C>G (p.Ser3756=) c.11265C>G (p.Ser3755=) c.11190C>G (p.Ser3730=) c.10890C>G (p.Ser3630=) c.8154C>G (p.Ser2718=) c.7047C>G (p.Ser2349=) c.11073C>G (p.Ser3691=) c.6825C>G (p.Ser2275=) c.10053C>G (p.Ser3351=) | |
| 8 | g.99861924C>T | CA462338528 | VPS13B | c.*362C>T (n.*362C>T) n.11338C>T c.*6950C>T (n.*6950C>T) c.11193C>T (p.Ser3731=) c.11268C>T (p.Ser3756=) c.11265C>T (p.Ser3755=) c.11190C>T (p.Ser3730=) c.10890C>T (p.Ser3630=) c.8154C>T (p.Ser2718=) c.7047C>T (p.Ser2349=) c.11073C>T (p.Ser3691=) c.6825C>T (p.Ser2275=) c.10053C>T (p.Ser3351=) | gnomAD v4 |
| 8 | g.99861925C>A | CA462338531 | VPS13B | c.*363C>A (n.*363C>A) n.11339C>A c.*6951C>A (n.*6951C>A) c.11194C>A (p.Arg3732=) c.11269C>A (p.Arg3757=) c.11266C>A (p.Arg3756=) c.11191C>A (p.Arg3731=) c.10891C>A (p.Arg3631=) c.8155C>A (p.Arg2719=) c.7048C>A (p.Arg2350=) c.11074C>A (p.Arg3692=) c.6826C>A (p.Arg2276=) c.10054C>A (p.Arg3352=) | gnomAD v4 |
| 8 | g.99861925C>G | CA371790723 | VPS13B | c.*363C>G (n.*363C>G) n.11339C>G c.*6951C>G (n.*6951C>G) c.11194C>G (p.Arg3732Gly) c.11269C>G (p.Arg3757Gly) c.11266C>G (p.Arg3756Gly) c.11191C>G (p.Arg3731Gly) c.10891C>G (p.Arg3631Gly) c.8155C>G (p.Arg2719Gly) c.7048C>G (p.Arg2350Gly) c.11074C>G (p.Arg3692Gly) c.6826C>G (p.Arg2276Gly) c.10054C>G (p.Arg3352Gly) | |
| 8 | g.99861925C>T | CA371790724 | VPS13B | c.*363C>T (n.*363C>T) n.11339C>T c.*6951C>T (n.*6951C>T) c.11194C>T (p.Arg3732Trp) c.11269C>T (p.Arg3757Trp) c.11266C>T (p.Arg3756Trp) c.11191C>T (p.Arg3731Trp) c.10891C>T (p.Arg3631Trp) c.8155C>T (p.Arg2719Trp) c.7048C>T (p.Arg2350Trp) c.11074C>T (p.Arg3692Trp) c.6826C>T (p.Arg2276Trp) c.10054C>T (p.Arg3352Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861926G>A | CA203180 | VPS13B | c.*364G>A (n.*364G>A) n.11340G>A c.*6952G>A (n.*6952G>A) c.11195G>A (p.Arg3732Gln) c.11270G>A (p.Arg3757Gln) c.11267G>A (p.Arg3756Gln) c.11192G>A (p.Arg3731Gln) c.10892G>A (p.Arg3631Gln) c.8156G>A (p.Arg2719Gln) c.7049G>A (p.Arg2350Gln) c.11075G>A (p.Arg3692Gln) c.6827G>A (p.Arg2276Gln) c.10055G>A (p.Arg3352Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861926G>C | CA371790725 | VPS13B | c.*364G>C (n.*364G>C) n.11340G>C c.*6952G>C (n.*6952G>C) c.11195G>C (p.Arg3732Pro) c.11270G>C (p.Arg3757Pro) c.11267G>C (p.Arg3756Pro) c.11192G>C (p.Arg3731Pro) c.10892G>C (p.Arg3631Pro) c.8156G>C (p.Arg2719Pro) c.7049G>C (p.Arg2350Pro) c.11075G>C (p.Arg3692Pro) c.6827G>C (p.Arg2276Pro) c.10055G>C (p.Arg3352Pro) | |
| 8 | g.99861926G>T | CA371790726 | VPS13B | c.*364G>T (n.*364G>T) n.11340G>T c.*6952G>T (n.*6952G>T) c.11195G>T (p.Arg3732Leu) c.11270G>T (p.Arg3757Leu) c.11267G>T (p.Arg3756Leu) c.11192G>T (p.Arg3731Leu) c.10892G>T (p.Arg3631Leu) c.8156G>T (p.Arg2719Leu) c.7049G>T (p.Arg2350Leu) c.11075G>T (p.Arg3692Leu) c.6827G>T (p.Arg2276Leu) c.10055G>T (p.Arg3352Leu) | gnomAD v4 |
| 8 | g.99861927G>A | CA462338546 | VPS13B | c.*365G>A (n.*365G>A) n.11341G>A c.*6953G>A (n.*6953G>A) c.11196G>A (p.Arg3732=) c.11271G>A (p.Arg3757=) c.11268G>A (p.Arg3756=) c.11193G>A (p.Arg3731=) c.10893G>A (p.Arg3631=) c.8157G>A (p.Arg2719=) c.7050G>A (p.Arg2350=) c.11076G>A (p.Arg3692=) c.6828G>A (p.Arg2276=) c.10056G>A (p.Arg3352=) | gnomAD v4 |
| 8 | g.99861927G>C | CA462338544 | VPS13B | c.*365G>C (n.*365G>C) n.11341G>C c.*6953G>C (n.*6953G>C) c.11196G>C (p.Arg3732=) c.11271G>C (p.Arg3757=) c.11268G>C (p.Arg3756=) c.11193G>C (p.Arg3731=) c.10893G>C (p.Arg3631=) c.8157G>C (p.Arg2719=) c.7050G>C (p.Arg2350=) c.11076G>C (p.Arg3692=) c.6828G>C (p.Arg2276=) c.10056G>C (p.Arg3352=) | dbSNP gnomAD v2 |