Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
8 | g.99861927G>T | CA462338543 | VPS13B | c.*365G>T (n.*365G>T) n.11341G>T c.*6953G>T (n.*6953G>T) c.11196G>T (p.Arg3732=) c.11271G>T (p.Arg3757=) c.11268G>T (p.Arg3756=) c.11193G>T (p.Arg3731=) c.10893G>T (p.Arg3631=) c.8157G>T (p.Arg2719=) c.7050G>T (p.Arg2350=) c.11076G>T (p.Arg3692=) c.6828G>T (p.Arg2276=) c.10056G>T (p.Arg3352=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861928C>A | CA371790727 | VPS13B | c.*366C>A (n.*366C>A) n.11342C>A c.*6954C>A (n.*6954C>A) c.11197C>A (p.Leu3733Met) c.11272C>A (p.Leu3758Met) c.11269C>A (p.Leu3757Met) c.11194C>A (p.Leu3732Met) c.10894C>A (p.Leu3632Met) c.8158C>A (p.Leu2720Met) c.7051C>A (p.Leu2351Met) c.11077C>A (p.Leu3693Met) c.6829C>A (p.Leu2277Met) c.10057C>A (p.Leu3353Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861928C>G | CA371790728 | VPS13B | c.*366C>G (n.*366C>G) n.11342C>G c.*6954C>G (n.*6954C>G) c.11197C>G (p.Leu3733Val) c.11272C>G (p.Leu3758Val) c.11269C>G (p.Leu3757Val) c.11194C>G (p.Leu3732Val) c.10894C>G (p.Leu3632Val) c.8158C>G (p.Leu2720Val) c.7051C>G (p.Leu2351Val) c.11077C>G (p.Leu3693Val) c.6829C>G (p.Leu2277Val) c.10057C>G (p.Leu3353Val) | |
8 | g.99861928C>T | CA462338553 | VPS13B | c.*366C>T (n.*366C>T) n.11342C>T c.*6954C>T (n.*6954C>T) c.11197C>T (p.Leu3733=) c.11272C>T (p.Leu3758=) c.11269C>T (p.Leu3757=) c.11194C>T (p.Leu3732=) c.10894C>T (p.Leu3632=) c.8158C>T (p.Leu2720=) c.7051C>T (p.Leu2351=) c.11077C>T (p.Leu3693=) c.6829C>T (p.Leu2277=) c.10057C>T (p.Leu3353=) | gnomAD v4 |
8 | g.99861929T>A | CA371790729 | VPS13B | c.*367T>A (n.*367T>A) n.11343T>A c.*6955T>A (n.*6955T>A) c.11198T>A (p.Leu3733Gln) c.11273T>A (p.Leu3758Gln) c.11270T>A (p.Leu3757Gln) c.11195T>A (p.Leu3732Gln) c.10895T>A (p.Leu3632Gln) c.8159T>A (p.Leu2720Gln) c.7052T>A (p.Leu2351Gln) c.11078T>A (p.Leu3693Gln) c.6830T>A (p.Leu2277Gln) c.10058T>A (p.Leu3353Gln) | |
8 | g.99861929T>C | CA371790731 | VPS13B | c.*367T>C (n.*367T>C) n.11343T>C c.*6955T>C (n.*6955T>C) c.11198T>C (p.Leu3733Pro) c.11273T>C (p.Leu3758Pro) c.11270T>C (p.Leu3757Pro) c.11195T>C (p.Leu3732Pro) c.10895T>C (p.Leu3632Pro) c.8159T>C (p.Leu2720Pro) c.7052T>C (p.Leu2351Pro) c.11078T>C (p.Leu3693Pro) c.6830T>C (p.Leu2277Pro) c.10058T>C (p.Leu3353Pro) | gnomAD v4 |
8 | g.99861929T>G | CA371790730 | VPS13B | c.*367T>G (n.*367T>G) n.11343T>G c.*6955T>G (n.*6955T>G) c.11198T>G (p.Leu3733Arg) c.11273T>G (p.Leu3758Arg) c.11270T>G (p.Leu3757Arg) c.11195T>G (p.Leu3732Arg) c.10895T>G (p.Leu3632Arg) c.8159T>G (p.Leu2720Arg) c.7052T>G (p.Leu2351Arg) c.11078T>G (p.Leu3693Arg) c.6830T>G (p.Leu2277Arg) c.10058T>G (p.Leu3353Arg) | |
8 | g.99861930G>A | CA462338568 | VPS13B | c.*368G>A (n.*368G>A) n.11344G>A c.*6956G>A (n.*6956G>A) c.11199G>A (p.Leu3733=) c.11274G>A (p.Leu3758=) c.11271G>A (p.Leu3757=) c.11196G>A (p.Leu3732=) c.10896G>A (p.Leu3632=) c.8160G>A (p.Leu2720=) c.7053G>A (p.Leu2351=) c.11079G>A (p.Leu3693=) c.6831G>A (p.Leu2277=) c.10059G>A (p.Leu3353=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861930G>C | CA462338566 | VPS13B | c.*368G>C (n.*368G>C) n.11344G>C c.*6956G>C (n.*6956G>C) c.11199G>C (p.Leu3733=) c.11274G>C (p.Leu3758=) c.11271G>C (p.Leu3757=) c.11196G>C (p.Leu3732=) c.10896G>C (p.Leu3632=) c.8160G>C (p.Leu2720=) c.7053G>C (p.Leu2351=) c.11079G>C (p.Leu3693=) c.6831G>C (p.Leu2277=) c.10059G>C (p.Leu3353=) | gnomAD v4 |
8 | g.99861930G>T | CA462338564 | VPS13B | c.*368G>T (n.*368G>T) n.11344G>T c.*6956G>T (n.*6956G>T) c.11199G>T (p.Leu3733=) c.11274G>T (p.Leu3758=) c.11271G>T (p.Leu3757=) c.11196G>T (p.Leu3732=) c.10896G>T (p.Leu3632=) c.8160G>T (p.Leu2720=) c.7053G>T (p.Leu2351=) c.11079G>T (p.Leu3693=) c.6831G>T (p.Leu2277=) c.10059G>T (p.Leu3353=) | gnomAD v4 |
8 | g.99861932del | CA2688072213 | VPS13B | c.*370del (n.*370del) n.11346del c.*6958del (n.*6958del) c.11201del (p.Gly3734AlafsTer11) c.11276del (p.Gly3759AlafsTer11) c.11273del (p.Gly3758AlafsTer11) c.11198del (p.Gly3733AlafsTer11) c.10898del (p.Gly3633AlafsTer11) c.8162del (p.Gly2721AlafsTer11) c.7055del (p.Gly2352AlafsTer11) c.11081del (p.Gly3694AlafsTer11) c.6833del (p.Gly2278AlafsTer11) c.10061del (p.Gly3354AlafsTer11) | gnomAD v4 |
8 | g.99861931G>A | CA371790732 | VPS13B | c.*369G>A (n.*369G>A) n.11345G>A c.*6957G>A (n.*6957G>A) c.11200G>A (p.Gly3734Ser) c.11275G>A (p.Gly3759Ser) c.11272G>A (p.Gly3758Ser) c.11197G>A (p.Gly3733Ser) c.10897G>A (p.Gly3633Ser) c.8161G>A (p.Gly2721Ser) c.7054G>A (p.Gly2352Ser) c.11080G>A (p.Gly3694Ser) c.6832G>A (p.Gly2278Ser) c.10060G>A (p.Gly3354Ser) | |
8 | g.99861931G>C | CA371790733 | VPS13B | c.*369G>C (n.*369G>C) n.11345G>C c.*6957G>C (n.*6957G>C) c.11200G>C (p.Gly3734Arg) c.11275G>C (p.Gly3759Arg) c.11272G>C (p.Gly3758Arg) c.11197G>C (p.Gly3733Arg) c.10897G>C (p.Gly3633Arg) c.8161G>C (p.Gly2721Arg) c.7054G>C (p.Gly2352Arg) c.11080G>C (p.Gly3694Arg) c.6832G>C (p.Gly2278Arg) c.10060G>C (p.Gly3354Arg) | ClinVar |
8 | g.99861931G>T | CA371790734 | VPS13B | c.*369G>T (n.*369G>T) n.11345G>T c.*6957G>T (n.*6957G>T) c.11200G>T (p.Gly3734Cys) c.11275G>T (p.Gly3759Cys) c.11272G>T (p.Gly3758Cys) c.11197G>T (p.Gly3733Cys) c.10897G>T (p.Gly3633Cys) c.8161G>T (p.Gly2721Cys) c.7054G>T (p.Gly2352Cys) c.11080G>T (p.Gly3694Cys) c.6832G>T (p.Gly2278Cys) c.10060G>T (p.Gly3354Cys) | |
8 | g.99861932G>A | CA371790735 | VPS13B | c.*370G>A (n.*370G>A) n.11346G>A c.*6958G>A (n.*6958G>A) c.11201G>A (p.Gly3734Asp) c.11276G>A (p.Gly3759Asp) c.11273G>A (p.Gly3758Asp) c.11198G>A (p.Gly3733Asp) c.10898G>A (p.Gly3633Asp) c.8162G>A (p.Gly2721Asp) c.7055G>A (p.Gly2352Asp) c.11081G>A (p.Gly3694Asp) c.6833G>A (p.Gly2278Asp) c.10061G>A (p.Gly3354Asp) | gnomAD v4 |
8 | g.99861932G>C | CA371790736 | VPS13B | c.*370G>C (n.*370G>C) n.11346G>C c.*6958G>C (n.*6958G>C) c.11201G>C (p.Gly3734Ala) c.11276G>C (p.Gly3759Ala) c.11273G>C (p.Gly3758Ala) c.11198G>C (p.Gly3733Ala) c.10898G>C (p.Gly3633Ala) c.8162G>C (p.Gly2721Ala) c.7055G>C (p.Gly2352Ala) c.11081G>C (p.Gly3694Ala) c.6833G>C (p.Gly2278Ala) c.10061G>C (p.Gly3354Ala) | |
8 | g.99861932G>T | CA371790737 | VPS13B | c.*370G>T (n.*370G>T) n.11346G>T c.*6958G>T (n.*6958G>T) c.11201G>T (p.Gly3734Val) c.11276G>T (p.Gly3759Val) c.11273G>T (p.Gly3758Val) c.11198G>T (p.Gly3733Val) c.10898G>T (p.Gly3633Val) c.8162G>T (p.Gly2721Val) c.7055G>T (p.Gly2352Val) c.11081G>T (p.Gly3694Val) c.6833G>T (p.Gly2278Val) c.10061G>T (p.Gly3354Val) | gnomAD v4 |