| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | 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 |