Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99819531_99819546del | CA2697550098 | VPS13B | c.8816_8831del (p.Pro2939HisfsTer17) n.8886_8901del c.*4498_*4513del (n.*4498_*4513del) c.8741_8756del (p.Pro2914HisfsTer17) c.8813_8828del (p.Pro2938HisfsTer17) c.8738_8753del (p.Pro2913HisfsTer17) c.8438_8453del (p.Pro2813HisfsTer17) c.5702_5717del (p.Pro1901HisfsTer17) c.4595_4610del (p.Pro1532HisfsTer17) c.8621_8636del (p.Pro2874HisfsTer17) c.4373_4388del (p.Pro1458HisfsTer17) c.7601_7616del (p.Pro2534HisfsTer17) | ClinVar |
8 | g.99819540C>A | CA371776554 | VPS13B | c.8825C>A (p.Ser2942Ter) n.8895C>A c.*4507C>A (n.*4507C>A) c.8750C>A (p.Ser2917Ter) c.8822C>A (p.Ser2941Ter) c.8747C>A (p.Ser2916Ter) c.8447C>A (p.Ser2816Ter) c.5711C>A (p.Ser1904Ter) c.4604C>A (p.Ser1535Ter) c.8630C>A (p.Ser2877Ter) c.4382C>A (p.Ser1461Ter) c.7610C>A (p.Ser2537Ter) | ClinVar gnomAD v4 |
8 | g.99819540C>G | CA371776555 | VPS13B | c.8825C>G (p.Ser2942Trp) n.8895C>G c.*4507C>G (n.*4507C>G) c.8750C>G (p.Ser2917Trp) c.8822C>G (p.Ser2941Trp) c.8747C>G (p.Ser2916Trp) c.8447C>G (p.Ser2816Trp) c.5711C>G (p.Ser1904Trp) c.4604C>G (p.Ser1535Trp) c.8630C>G (p.Ser2877Trp) c.4382C>G (p.Ser1461Trp) c.7610C>G (p.Ser2537Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819540C>T | CA4824537 | VPS13B | c.8825C>T (p.Ser2942Leu) n.8895C>T c.*4507C>T (n.*4507C>T) c.8750C>T (p.Ser2917Leu) c.8822C>T (p.Ser2941Leu) c.8747C>T (p.Ser2916Leu) c.8447C>T (p.Ser2816Leu) c.5711C>T (p.Ser1904Leu) c.4604C>T (p.Ser1535Leu) c.8630C>T (p.Ser2877Leu) c.4382C>T (p.Ser1461Leu) c.7610C>T (p.Ser2537Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819541G>A | CA4824538 | VPS13B | c.8826G>A (p.Ser2942=) n.8896G>A c.*4508G>A (n.*4508G>A) c.8751G>A (p.Ser2917=) c.8823G>A (p.Ser2941=) c.8748G>A (p.Ser2916=) c.8448G>A (p.Ser2816=) c.5712G>A (p.Ser1904=) c.4605G>A (p.Ser1535=) c.8631G>A (p.Ser2877=) c.4383G>A (p.Ser1461=) c.7611G>A (p.Ser2537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819541G>C | CA462339516 | VPS13B | c.8826G>C (p.Ser2942=) n.8896G>C c.*4508G>C (n.*4508G>C) c.8751G>C (p.Ser2917=) c.8823G>C (p.Ser2941=) c.8748G>C (p.Ser2916=) c.8448G>C (p.Ser2816=) c.5712G>C (p.Ser1904=) c.4605G>C (p.Ser1535=) c.8631G>C (p.Ser2877=) c.4383G>C (p.Ser1461=) c.7611G>C (p.Ser2537=) | |
8 | g.99819541G>T | CA462339517 | VPS13B | c.8826G>T (p.Ser2942=) n.8896G>T c.*4508G>T (n.*4508G>T) c.8751G>T (p.Ser2917=) c.8823G>T (p.Ser2941=) c.8748G>T (p.Ser2916=) c.8448G>T (p.Ser2816=) c.5712G>T (p.Ser1904=) c.4605G>T (p.Ser1535=) c.8631G>T (p.Ser2877=) c.4383G>T (p.Ser1461=) c.7611G>T (p.Ser2537=) | ClinVar dbSNP gnomAD v4 |
8 | g.99819542C>A | CA371776562 | VPS13B | c.8827C>A (p.Leu2943Ile) n.8897C>A c.*4509C>A (n.*4509C>A) c.8752C>A (p.Leu2918Ile) c.8824C>A (p.Leu2942Ile) c.8749C>A (p.Leu2917Ile) c.8449C>A (p.Leu2817Ile) c.5713C>A (p.Leu1905Ile) c.4606C>A (p.Leu1536Ile) c.8632C>A (p.Leu2878Ile) c.4384C>A (p.Leu1462Ile) c.7612C>A (p.Leu2538Ile) | |
8 | g.99819542C>G | CA371776559 | VPS13B | c.8827C>G (p.Leu2943Val) n.8897C>G c.*4509C>G (n.*4509C>G) c.8752C>G (p.Leu2918Val) c.8824C>G (p.Leu2942Val) c.8749C>G (p.Leu2917Val) c.8449C>G (p.Leu2817Val) c.5713C>G (p.Leu1905Val) c.4606C>G (p.Leu1536Val) c.8632C>G (p.Leu2878Val) c.4384C>G (p.Leu1462Val) c.7612C>G (p.Leu2538Val) | |
8 | g.99819542C>T | CA371776560 | VPS13B | c.8827C>T (p.Leu2943Phe) n.8897C>T c.*4509C>T (n.*4509C>T) c.8752C>T (p.Leu2918Phe) c.8824C>T (p.Leu2942Phe) c.8749C>T (p.Leu2917Phe) c.8449C>T (p.Leu2817Phe) c.5713C>T (p.Leu1905Phe) c.4606C>T (p.Leu1536Phe) c.8632C>T (p.Leu2878Phe) c.4384C>T (p.Leu1462Phe) c.7612C>T (p.Leu2538Phe) | dbSNP |
8 | g.99819543T>A | CA371776565 | VPS13B | c.8828T>A (p.Leu2943His) n.8898T>A c.*4510T>A (n.*4510T>A) c.8753T>A (p.Leu2918His) c.8825T>A (p.Leu2942His) c.8750T>A (p.Leu2917His) c.8450T>A (p.Leu2817His) c.5714T>A (p.Leu1905His) c.4607T>A (p.Leu1536His) c.8633T>A (p.Leu2878His) c.4385T>A (p.Leu1462His) c.7613T>A (p.Leu2538His) | |
8 | g.99819543T>C | CA371776566 | VPS13B | c.8828T>C (p.Leu2943Pro) n.8898T>C c.*4510T>C (n.*4510T>C) c.8753T>C (p.Leu2918Pro) c.8825T>C (p.Leu2942Pro) c.8750T>C (p.Leu2917Pro) c.8450T>C (p.Leu2817Pro) c.5714T>C (p.Leu1905Pro) c.4607T>C (p.Leu1536Pro) c.8633T>C (p.Leu2878Pro) c.4385T>C (p.Leu1462Pro) c.7613T>C (p.Leu2538Pro) | |
8 | g.99819543T>G | CA371776568 | VPS13B | c.8828T>G (p.Leu2943Arg) n.8898T>G c.*4510T>G (n.*4510T>G) c.8753T>G (p.Leu2918Arg) c.8825T>G (p.Leu2942Arg) c.8750T>G (p.Leu2917Arg) c.8450T>G (p.Leu2817Arg) c.5714T>G (p.Leu1905Arg) c.4607T>G (p.Leu1536Arg) c.8633T>G (p.Leu2878Arg) c.4385T>G (p.Leu1462Arg) c.7613T>G (p.Leu2538Arg) | |
8 | g.99819544T>A | CA462339518 | VPS13B | c.8829T>A (p.Leu2943=) n.8899T>A c.*4511T>A (n.*4511T>A) c.8754T>A (p.Leu2918=) c.8826T>A (p.Leu2942=) c.8751T>A (p.Leu2917=) c.8451T>A (p.Leu2817=) c.5715T>A (p.Leu1905=) c.4608T>A (p.Leu1536=) c.8634T>A (p.Leu2878=) c.4386T>A (p.Leu1462=) c.7614T>A (p.Leu2538=) | |
8 | g.99819544T>C | CA462339519 | VPS13B | c.8829T>C (p.Leu2943=) n.8899T>C c.*4511T>C (n.*4511T>C) c.8754T>C (p.Leu2918=) c.8826T>C (p.Leu2942=) c.8751T>C (p.Leu2917=) c.8451T>C (p.Leu2817=) c.5715T>C (p.Leu1905=) c.4608T>C (p.Leu1536=) c.8634T>C (p.Leu2878=) c.4386T>C (p.Leu1462=) c.7614T>C (p.Leu2538=) | |
8 | g.99819544T>G | CA462339520 | VPS13B | c.8829T>G (p.Leu2943=) n.8899T>G c.*4511T>G (n.*4511T>G) c.8754T>G (p.Leu2918=) c.8826T>G (p.Leu2942=) c.8751T>G (p.Leu2917=) c.8451T>G (p.Leu2817=) c.5715T>G (p.Leu1905=) c.4608T>G (p.Leu1536=) c.8634T>G (p.Leu2878=) c.4386T>G (p.Leu1462=) c.7614T>G (p.Leu2538=) | |
8 | g.99819545C>A | CA371776571 | VPS13B | c.8830C>A (p.Gln2944Lys) n.8900C>A c.*4512C>A (n.*4512C>A) c.8755C>A (p.Gln2919Lys) c.8827C>A (p.Gln2943Lys) c.8752C>A (p.Gln2918Lys) c.8452C>A (p.Gln2818Lys) c.5716C>A (p.Gln1906Lys) c.4609C>A (p.Gln1537Lys) c.8635C>A (p.Gln2879Lys) c.4387C>A (p.Gln1463Lys) c.7615C>A (p.Gln2539Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819545C>G | CA371776572 | VPS13B | c.8830C>G (p.Gln2944Glu) n.8900C>G c.*4512C>G (n.*4512C>G) c.8755C>G (p.Gln2919Glu) c.8827C>G (p.Gln2943Glu) c.8752C>G (p.Gln2918Glu) c.8452C>G (p.Gln2818Glu) c.5716C>G (p.Gln1906Glu) c.4609C>G (p.Gln1537Glu) c.8635C>G (p.Gln2879Glu) c.4387C>G (p.Gln1463Glu) c.7615C>G (p.Gln2539Glu) | |
8 | g.99819545C>T | CA371776573 | VPS13B | c.8830C>T (p.Gln2944Ter) n.8900C>T c.*4512C>T (n.*4512C>T) c.8755C>T (p.Gln2919Ter) c.8827C>T (p.Gln2943Ter) c.8752C>T (p.Gln2918Ter) c.8452C>T (p.Gln2818Ter) c.5716C>T (p.Gln1906Ter) c.4609C>T (p.Gln1537Ter) c.8635C>T (p.Gln2879Ter) c.4387C>T (p.Gln1463Ter) c.7615C>T (p.Gln2539Ter) | |
8 | g.99819546A>C | CA371776575 | VPS13B | c.8831A>C (p.Gln2944Pro) n.8901A>C c.*4513A>C (n.*4513A>C) c.8756A>C (p.Gln2919Pro) c.8828A>C (p.Gln2943Pro) c.8753A>C (p.Gln2918Pro) c.8453A>C (p.Gln2818Pro) c.5717A>C (p.Gln1906Pro) c.4610A>C (p.Gln1537Pro) c.8636A>C (p.Gln2879Pro) c.4388A>C (p.Gln1463Pro) c.7616A>C (p.Gln2539Pro) | |
8 | g.99819546A>G | CA182328759 | VPS13B | c.8831A>G (p.Gln2944Arg) n.8901A>G c.*4513A>G (n.*4513A>G) c.8756A>G (p.Gln2919Arg) c.8828A>G (p.Gln2943Arg) c.8753A>G (p.Gln2918Arg) c.8453A>G (p.Gln2818Arg) c.5717A>G (p.Gln1906Arg) c.4610A>G (p.Gln1537Arg) c.8636A>G (p.Gln2879Arg) c.4388A>G (p.Gln1463Arg) c.7616A>G (p.Gln2539Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819546A>T | CA371776577 | VPS13B | c.8831A>T (p.Gln2944Leu) n.8901A>T c.*4513A>T (n.*4513A>T) c.8756A>T (p.Gln2919Leu) c.8828A>T (p.Gln2943Leu) c.8753A>T (p.Gln2918Leu) c.8453A>T (p.Gln2818Leu) c.5717A>T (p.Gln1906Leu) c.4610A>T (p.Gln1537Leu) c.8636A>T (p.Gln2879Leu) c.4388A>T (p.Gln1463Leu) c.7616A>T (p.Gln2539Leu) | |
8 | g.99819547A>C | CA371776578 | VPS13B | c.8832A>C (p.Gln2944His) n.8902A>C c.*4514A>C (n.*4514A>C) c.8757A>C (p.Gln2919His) c.8829A>C (p.Gln2943His) c.8754A>C (p.Gln2918His) c.8454A>C (p.Gln2818His) c.5718A>C (p.Gln1906His) c.4611A>C (p.Gln1537His) c.8637A>C (p.Gln2879His) c.4389A>C (p.Gln1463His) c.7617A>C (p.Gln2539His) | |
8 | g.99819547A>G | CA462339521 | VPS13B | c.8832A>G (p.Gln2944=) n.8902A>G c.*4514A>G (n.*4514A>G) c.8757A>G (p.Gln2919=) c.8829A>G (p.Gln2943=) c.8754A>G (p.Gln2918=) c.8454A>G (p.Gln2818=) c.5718A>G (p.Gln1906=) c.4611A>G (p.Gln1537=) c.8637A>G (p.Gln2879=) c.4389A>G (p.Gln1463=) c.7617A>G (p.Gln2539=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819547A>T | CA371776580 | VPS13B | c.8832A>T (p.Gln2944His) n.8902A>T c.*4514A>T (n.*4514A>T) c.8757A>T (p.Gln2919His) c.8829A>T (p.Gln2943His) c.8754A>T (p.Gln2918His) c.8454A>T (p.Gln2818His) c.5718A>T (p.Gln1906His) c.4611A>T (p.Gln1537His) c.8637A>T (p.Gln2879His) c.4389A>T (p.Gln1463His) c.7617A>T (p.Gln2539His) | |
8 | g.99819548C>A | CA371776584 | VPS13B | c.8833C>A (p.Pro2945Thr) n.8903C>A c.*4515C>A (n.*4515C>A) c.8758C>A (p.Pro2920Thr) c.8830C>A (p.Pro2944Thr) c.8755C>A (p.Pro2919Thr) c.8455C>A (p.Pro2819Thr) c.5719C>A (p.Pro1907Thr) c.4612C>A (p.Pro1538Thr) c.8638C>A (p.Pro2880Thr) c.4390C>A (p.Pro1464Thr) c.7618C>A (p.Pro2540Thr) | |
8 | g.99819548C>G | CA371776582 | VPS13B | c.8833C>G (p.Pro2945Ala) n.8903C>G c.*4515C>G (n.*4515C>G) c.8758C>G (p.Pro2920Ala) c.8830C>G (p.Pro2944Ala) c.8755C>G (p.Pro2919Ala) c.8455C>G (p.Pro2819Ala) c.5719C>G (p.Pro1907Ala) c.4612C>G (p.Pro1538Ala) c.8638C>G (p.Pro2880Ala) c.4390C>G (p.Pro1464Ala) c.7618C>G (p.Pro2540Ala) | |
8 | g.99819548C>T | CA371776581 | VPS13B | c.8833C>T (p.Pro2945Ser) n.8903C>T c.*4515C>T (n.*4515C>T) c.8758C>T (p.Pro2920Ser) c.8830C>T (p.Pro2944Ser) c.8755C>T (p.Pro2919Ser) c.8455C>T (p.Pro2819Ser) c.5719C>T (p.Pro1907Ser) c.4612C>T (p.Pro1538Ser) c.8638C>T (p.Pro2880Ser) c.4390C>T (p.Pro1464Ser) c.7618C>T (p.Pro2540Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.99819548_99819549insGAA | CA4824539 | VPS13B | c.8833_8834insGAA (p.Pro2945delinsArgThr) n.8903_8904insGAA c.*4515_*4516insGAA (n.*4515_*4516insGAA) c.8758_8759insGAA (p.Pro2920delinsArgThr) c.8830_8831insGAA (p.Pro2944delinsArgThr) c.8755_8756insGAA (p.Pro2919delinsArgThr) c.8455_8456insGAA (p.Pro2819delinsArgThr) c.5719_5720insGAA (p.Pro1907delinsArgThr) c.4612_4613insGAA (p.Pro1538delinsArgThr) c.8638_8639insGAA (p.Pro2880delinsArgThr) c.4390_4391insGAA (p.Pro1464delinsArgThr) c.7618_7619insGAA (p.Pro2540delinsArgThr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819549C>A | CA371776587 | VPS13B | c.8834C>A (p.Pro2945His) n.8904C>A c.*4516C>A (n.*4516C>A) c.8759C>A (p.Pro2920His) c.8831C>A (p.Pro2944His) c.8756C>A (p.Pro2919His) c.8456C>A (p.Pro2819His) c.5720C>A (p.Pro1907His) c.4613C>A (p.Pro1538His) c.8639C>A (p.Pro2880His) c.4391C>A (p.Pro1464His) c.7619C>A (p.Pro2540His) | |
8 | g.99819549C>G | CA371776592 | VPS13B | c.8834C>G (p.Pro2945Arg) n.8904C>G c.*4516C>G (n.*4516C>G) c.8759C>G (p.Pro2920Arg) c.8831C>G (p.Pro2944Arg) c.8756C>G (p.Pro2919Arg) c.8456C>G (p.Pro2819Arg) c.5720C>G (p.Pro1907Arg) c.4613C>G (p.Pro1538Arg) c.8639C>G (p.Pro2880Arg) c.4391C>G (p.Pro1464Arg) c.7619C>G (p.Pro2540Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819549C>T | CA371776590 | VPS13B | c.8834C>T (p.Pro2945Leu) n.8904C>T c.*4516C>T (n.*4516C>T) c.8759C>T (p.Pro2920Leu) c.8831C>T (p.Pro2944Leu) c.8756C>T (p.Pro2919Leu) c.8456C>T (p.Pro2819Leu) c.5720C>T (p.Pro1907Leu) c.4613C>T (p.Pro1538Leu) c.8639C>T (p.Pro2880Leu) c.4391C>T (p.Pro1464Leu) c.7619C>T (p.Pro2540Leu) | |
8 | g.99819550C>A | CA462339524 | VPS13B | c.8835C>A (p.Pro2945=) n.8905C>A c.*4517C>A (n.*4517C>A) c.8760C>A (p.Pro2920=) c.8832C>A (p.Pro2944=) c.8757C>A (p.Pro2919=) c.8457C>A (p.Pro2819=) c.5721C>A (p.Pro1907=) c.4614C>A (p.Pro1538=) c.8640C>A (p.Pro2880=) c.4392C>A (p.Pro1464=) c.7620C>A (p.Pro2540=) | ClinVar |
8 | g.99819550C>G | CA462339522 | VPS13B | c.8835C>G (p.Pro2945=) n.8905C>G c.*4517C>G (n.*4517C>G) c.8760C>G (p.Pro2920=) c.8832C>G (p.Pro2944=) c.8757C>G (p.Pro2919=) c.8457C>G (p.Pro2819=) c.5721C>G (p.Pro1907=) c.4614C>G (p.Pro1538=) c.8640C>G (p.Pro2880=) c.4392C>G (p.Pro1464=) c.7620C>G (p.Pro2540=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819550C>T | CA462339523 | VPS13B | c.8835C>T (p.Pro2945=) n.8905C>T c.*4517C>T (n.*4517C>T) c.8760C>T (p.Pro2920=) c.8832C>T (p.Pro2944=) c.8757C>T (p.Pro2919=) c.8457C>T (p.Pro2819=) c.5721C>T (p.Pro1907=) c.4614C>T (p.Pro1538=) c.8640C>T (p.Pro2880=) c.4392C>T (p.Pro1464=) c.7620C>T (p.Pro2540=) | |
8 | g.99819551A>C | CA371776594 | VPS13B | c.8836A>C (p.Ile2946Leu) n.8906A>C c.*4518A>C (n.*4518A>C) c.8761A>C (p.Ile2921Leu) c.8833A>C (p.Ile2945Leu) c.8758A>C (p.Ile2920Leu) c.8458A>C (p.Ile2820Leu) c.5722A>C (p.Ile1908Leu) c.4615A>C (p.Ile1539Leu) c.8641A>C (p.Ile2881Leu) c.4393A>C (p.Ile1465Leu) c.7621A>C (p.Ile2541Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819551A>G | CA371776596 | VPS13B | c.8836A>G (p.Ile2946Val) n.8906A>G c.*4518A>G (n.*4518A>G) c.8761A>G (p.Ile2921Val) c.8833A>G (p.Ile2945Val) c.8758A>G (p.Ile2920Val) c.8458A>G (p.Ile2820Val) c.5722A>G (p.Ile1908Val) c.4615A>G (p.Ile1539Val) c.8641A>G (p.Ile2881Val) c.4393A>G (p.Ile1465Val) c.7621A>G (p.Ile2541Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819551A>T | CA371776598 | VPS13B | c.8836A>T (p.Ile2946Leu) n.8906A>T c.*4518A>T (n.*4518A>T) c.8761A>T (p.Ile2921Leu) c.8833A>T (p.Ile2945Leu) c.8758A>T (p.Ile2920Leu) c.8458A>T (p.Ile2820Leu) c.5722A>T (p.Ile1908Leu) c.4615A>T (p.Ile1539Leu) c.8641A>T (p.Ile2881Leu) c.4393A>T (p.Ile1465Leu) c.7621A>T (p.Ile2541Leu) | COSMIC COSMIC |
8 | g.99819552T>A | CA371776600 | VPS13B | c.8837T>A (p.Ile2946Lys) n.8907T>A c.*4519T>A (n.*4519T>A) c.8762T>A (p.Ile2921Lys) c.8834T>A (p.Ile2945Lys) c.8759T>A (p.Ile2920Lys) c.8459T>A (p.Ile2820Lys) c.5723T>A (p.Ile1908Lys) c.4616T>A (p.Ile1539Lys) c.8642T>A (p.Ile2881Lys) c.4394T>A (p.Ile1465Lys) c.7622T>A (p.Ile2541Lys) | |
8 | g.99819552T>C | CA371776602 | VPS13B | c.8837T>C (p.Ile2946Thr) n.8907T>C c.*4519T>C (n.*4519T>C) c.8762T>C (p.Ile2921Thr) c.8834T>C (p.Ile2945Thr) c.8759T>C (p.Ile2920Thr) c.8459T>C (p.Ile2820Thr) c.5723T>C (p.Ile1908Thr) c.4616T>C (p.Ile1539Thr) c.8642T>C (p.Ile2881Thr) c.4394T>C (p.Ile1465Thr) c.7622T>C (p.Ile2541Thr) | |
8 | g.99819552T>G | CA371776604 | VPS13B | c.8837T>G (p.Ile2946Arg) n.8907T>G c.*4519T>G (n.*4519T>G) c.8762T>G (p.Ile2921Arg) c.8834T>G (p.Ile2945Arg) c.8759T>G (p.Ile2920Arg) c.8459T>G (p.Ile2820Arg) c.5723T>G (p.Ile1908Arg) c.4616T>G (p.Ile1539Arg) c.8642T>G (p.Ile2881Arg) c.4394T>G (p.Ile1465Arg) c.7622T>G (p.Ile2541Arg) | |
8 | g.99819553A>C | CA462339525 | VPS13B | c.8838A>C (p.Ile2946=) n.8908A>C c.*4520A>C (n.*4520A>C) c.8763A>C (p.Ile2921=) c.8835A>C (p.Ile2945=) c.8760A>C (p.Ile2920=) c.8460A>C (p.Ile2820=) c.5724A>C (p.Ile1908=) c.4617A>C (p.Ile1539=) c.8643A>C (p.Ile2881=) c.4395A>C (p.Ile1465=) c.7623A>C (p.Ile2541=) | |
8 | g.99819553A>G | CA371776605 | VPS13B | c.8838A>G (p.Ile2946Met) n.8908A>G c.*4520A>G (n.*4520A>G) c.8763A>G (p.Ile2921Met) c.8835A>G (p.Ile2945Met) c.8760A>G (p.Ile2920Met) c.8460A>G (p.Ile2820Met) c.5724A>G (p.Ile1908Met) c.4617A>G (p.Ile1539Met) c.8643A>G (p.Ile2881Met) c.4395A>G (p.Ile1465Met) c.7623A>G (p.Ile2541Met) | dbSNP gnomAD v4 |
8 | g.99819553A>T | CA462339526 | VPS13B | c.8838A>T (p.Ile2946=) n.8908A>T c.*4520A>T (n.*4520A>T) c.8763A>T (p.Ile2921=) c.8835A>T (p.Ile2945=) c.8760A>T (p.Ile2920=) c.8460A>T (p.Ile2820=) c.5724A>T (p.Ile1908=) c.4617A>T (p.Ile1539=) c.8643A>T (p.Ile2881=) c.4395A>T (p.Ile1465=) c.7623A>T (p.Ile2541=) | |
8 | g.99819554T>A | CA4824540 | VPS13B | c.8839T>A (p.Trp2947Arg) n.8909T>A c.*4521T>A (n.*4521T>A) c.8764T>A (p.Trp2922Arg) c.8836T>A (p.Trp2946Arg) c.8761T>A (p.Trp2921Arg) c.8461T>A (p.Trp2821Arg) c.5725T>A (p.Trp1909Arg) c.4618T>A (p.Trp1540Arg) c.8644T>A (p.Trp2882Arg) c.4396T>A (p.Trp1466Arg) c.7624T>A (p.Trp2542Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819554T>C | CA371776608 | VPS13B | c.8839T>C (p.Trp2947Arg) n.8909T>C c.*4521T>C (n.*4521T>C) c.8764T>C (p.Trp2922Arg) c.8836T>C (p.Trp2946Arg) c.8761T>C (p.Trp2921Arg) c.8461T>C (p.Trp2821Arg) c.5725T>C (p.Trp1909Arg) c.4618T>C (p.Trp1540Arg) c.8644T>C (p.Trp2882Arg) c.4396T>C (p.Trp1466Arg) c.7624T>C (p.Trp2542Arg) | |
8 | g.99819554T>G | CA371776610 | VPS13B | c.8839T>G (p.Trp2947Gly) n.8909T>G c.*4521T>G (n.*4521T>G) c.8764T>G (p.Trp2922Gly) c.8836T>G (p.Trp2946Gly) c.8761T>G (p.Trp2921Gly) c.8461T>G (p.Trp2821Gly) c.5725T>G (p.Trp1909Gly) c.4618T>G (p.Trp1540Gly) c.8644T>G (p.Trp2882Gly) c.4396T>G (p.Trp1466Gly) c.7624T>G (p.Trp2542Gly) | |
8 | g.99819555G>A | CA371776615 | VPS13B | c.8840G>A (p.Trp2947Ter) n.8910G>A c.*4522G>A (n.*4522G>A) c.8765G>A (p.Trp2922Ter) c.8837G>A (p.Trp2946Ter) c.8762G>A (p.Trp2921Ter) c.8462G>A (p.Trp2821Ter) c.5726G>A (p.Trp1909Ter) c.4619G>A (p.Trp1540Ter) c.8645G>A (p.Trp2882Ter) c.4397G>A (p.Trp1466Ter) c.7625G>A (p.Trp2542Ter) | |
8 | g.99819555G>C | CA371776614 | VPS13B | c.8840G>C (p.Trp2947Ser) n.8910G>C c.*4522G>C (n.*4522G>C) c.8765G>C (p.Trp2922Ser) c.8837G>C (p.Trp2946Ser) c.8762G>C (p.Trp2921Ser) c.8462G>C (p.Trp2821Ser) c.5726G>C (p.Trp1909Ser) c.4619G>C (p.Trp1540Ser) c.8645G>C (p.Trp2882Ser) c.4397G>C (p.Trp1466Ser) c.7625G>C (p.Trp2542Ser) | |
8 | g.99819555G>T | CA4824541 | VPS13B | c.8840G>T (p.Trp2947Leu) n.8910G>T c.*4522G>T (n.*4522G>T) c.8765G>T (p.Trp2922Leu) c.8837G>T (p.Trp2946Leu) c.8762G>T (p.Trp2921Leu) c.8462G>T (p.Trp2821Leu) c.5726G>T (p.Trp1909Leu) c.4619G>T (p.Trp1540Leu) c.8645G>T (p.Trp2882Leu) c.4397G>T (p.Trp1466Leu) c.7625G>T (p.Trp2542Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819556G>A | CA371776618 | VPS13B | c.8841G>A (p.Trp2947Ter) n.8911G>A c.*4523G>A (n.*4523G>A) c.8766G>A (p.Trp2922Ter) c.8838G>A (p.Trp2946Ter) c.8763G>A (p.Trp2921Ter) c.8463G>A (p.Trp2821Ter) c.5727G>A (p.Trp1909Ter) c.4620G>A (p.Trp1540Ter) c.8646G>A (p.Trp2882Ter) c.4398G>A (p.Trp1466Ter) c.7626G>A (p.Trp2542Ter) | ClinVar dbSNP |
8 | g.99819556G>C | CA371776620 | VPS13B | c.8841G>C (p.Trp2947Cys) n.8911G>C c.*4523G>C (n.*4523G>C) c.8766G>C (p.Trp2922Cys) c.8838G>C (p.Trp2946Cys) c.8763G>C (p.Trp2921Cys) c.8463G>C (p.Trp2821Cys) c.5727G>C (p.Trp1909Cys) c.4620G>C (p.Trp1540Cys) c.8646G>C (p.Trp2882Cys) c.4398G>C (p.Trp1466Cys) c.7626G>C (p.Trp2542Cys) | |
8 | g.99819556G>T | CA371776621 | VPS13B | c.8841G>T (p.Trp2947Cys) n.8911G>T c.*4523G>T (n.*4523G>T) c.8766G>T (p.Trp2922Cys) c.8838G>T (p.Trp2946Cys) c.8763G>T (p.Trp2921Cys) c.8463G>T (p.Trp2821Cys) c.5727G>T (p.Trp1909Cys) c.4620G>T (p.Trp1540Cys) c.8646G>T (p.Trp2882Cys) c.4398G>T (p.Trp1466Cys) c.7626G>T (p.Trp2542Cys) | |
8 | g.99819557C>A | CA371776624 | VPS13B | c.8842C>A (p.Pro2948Thr) n.8912C>A c.*4524C>A (n.*4524C>A) c.8767C>A (p.Pro2923Thr) c.8839C>A (p.Pro2947Thr) c.8764C>A (p.Pro2922Thr) c.8464C>A (p.Pro2822Thr) c.5728C>A (p.Pro1910Thr) c.4621C>A (p.Pro1541Thr) c.8647C>A (p.Pro2883Thr) c.4399C>A (p.Pro1467Thr) c.7627C>A (p.Pro2543Thr) | |
8 | g.99819557C>G | CA371776626 | VPS13B | c.8842C>G (p.Pro2948Ala) n.8912C>G c.*4524C>G (n.*4524C>G) c.8767C>G (p.Pro2923Ala) c.8839C>G (p.Pro2947Ala) c.8764C>G (p.Pro2922Ala) c.8464C>G (p.Pro2822Ala) c.5728C>G (p.Pro1910Ala) c.4621C>G (p.Pro1541Ala) c.8647C>G (p.Pro2883Ala) c.4399C>G (p.Pro1467Ala) c.7627C>G (p.Pro2543Ala) | dbSNP gnomAD v4 |
8 | g.99819557C>T | CA371776627 | VPS13B | c.8842C>T (p.Pro2948Ser) n.8912C>T c.*4524C>T (n.*4524C>T) c.8767C>T (p.Pro2923Ser) c.8839C>T (p.Pro2947Ser) c.8764C>T (p.Pro2922Ser) c.8464C>T (p.Pro2822Ser) c.5728C>T (p.Pro1910Ser) c.4621C>T (p.Pro1541Ser) c.8647C>T (p.Pro2883Ser) c.4399C>T (p.Pro1467Ser) c.7627C>T (p.Pro2543Ser) | |
8 | g.99819558C>A | CA371776628 | VPS13B | c.8843C>A (p.Pro2948His) n.8913C>A c.*4525C>A (n.*4525C>A) c.8768C>A (p.Pro2923His) c.8840C>A (p.Pro2947His) c.8765C>A (p.Pro2922His) c.8465C>A (p.Pro2822His) c.5729C>A (p.Pro1910His) c.4622C>A (p.Pro1541His) c.8648C>A (p.Pro2883His) c.4400C>A (p.Pro1467His) c.7628C>A (p.Pro2543His) | |
8 | g.99819558C>G | CA371776629 | VPS13B | c.8843C>G (p.Pro2948Arg) n.8913C>G c.*4525C>G (n.*4525C>G) c.8768C>G (p.Pro2923Arg) c.8840C>G (p.Pro2947Arg) c.8765C>G (p.Pro2922Arg) c.8465C>G (p.Pro2822Arg) c.5729C>G (p.Pro1910Arg) c.4622C>G (p.Pro1541Arg) c.8648C>G (p.Pro2883Arg) c.4400C>G (p.Pro1467Arg) c.7628C>G (p.Pro2543Arg) | |
8 | g.99819558C>T | CA371776631 | VPS13B | c.8843C>T (p.Pro2948Leu) n.8913C>T c.*4525C>T (n.*4525C>T) c.8768C>T (p.Pro2923Leu) c.8840C>T (p.Pro2947Leu) c.8765C>T (p.Pro2922Leu) c.8465C>T (p.Pro2822Leu) c.5729C>T (p.Pro1910Leu) c.4622C>T (p.Pro1541Leu) c.8648C>T (p.Pro2883Leu) c.4400C>T (p.Pro1467Leu) c.7628C>T (p.Pro2543Leu) | |
8 | g.99819559C>A | CA462339528 | VPS13B | c.8844C>A (p.Pro2948=) n.8914C>A c.*4526C>A (n.*4526C>A) c.8769C>A (p.Pro2923=) c.8841C>A (p.Pro2947=) c.8766C>A (p.Pro2922=) c.8466C>A (p.Pro2822=) c.5730C>A (p.Pro1910=) c.4623C>A (p.Pro1541=) c.8649C>A (p.Pro2883=) c.4401C>A (p.Pro1467=) c.7629C>A (p.Pro2543=) | |
8 | g.99819559C>G | CA462339529 | VPS13B | c.8844C>G (p.Pro2948=) n.8914C>G c.*4526C>G (n.*4526C>G) c.8769C>G (p.Pro2923=) c.8841C>G (p.Pro2947=) c.8766C>G (p.Pro2922=) c.8466C>G (p.Pro2822=) c.5730C>G (p.Pro1910=) c.4623C>G (p.Pro1541=) c.8649C>G (p.Pro2883=) c.4401C>G (p.Pro1467=) c.7629C>G (p.Pro2543=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819559C>T | CA462339527 | VPS13B | c.8844C>T (p.Pro2948=) n.8914C>T c.*4526C>T (n.*4526C>T) c.8769C>T (p.Pro2923=) c.8841C>T (p.Pro2947=) c.8766C>T (p.Pro2922=) c.8466C>T (p.Pro2822=) c.5730C>T (p.Pro1910=) c.4623C>T (p.Pro1541=) c.8649C>T (p.Pro2883=) c.4401C>T (p.Pro1467=) c.7629C>T (p.Pro2543=) | |
8 | g.99819560T>A | CA371776633 | VPS13B | c.8845T>A (p.Tyr2949Asn) n.8915T>A c.*4527T>A (n.*4527T>A) c.8770T>A (p.Tyr2924Asn) c.8842T>A (p.Tyr2948Asn) c.8767T>A (p.Tyr2923Asn) c.8467T>A (p.Tyr2823Asn) c.5731T>A (p.Tyr1911Asn) c.4624T>A (p.Tyr1542Asn) c.8650T>A (p.Tyr2884Asn) c.4402T>A (p.Tyr1468Asn) c.7630T>A (p.Tyr2544Asn) | |
8 | g.99819560T>C | CA371776635 | VPS13B | c.8845T>C (p.Tyr2949His) n.8915T>C c.*4527T>C (n.*4527T>C) c.8770T>C (p.Tyr2924His) c.8842T>C (p.Tyr2948His) c.8767T>C (p.Tyr2923His) c.8467T>C (p.Tyr2823His) c.5731T>C (p.Tyr1911His) c.4624T>C (p.Tyr1542His) c.8650T>C (p.Tyr2884His) c.4402T>C (p.Tyr1468His) c.7630T>C (p.Tyr2544His) | |
8 | g.99819560T>G | CA371776637 | VPS13B | c.8845T>G (p.Tyr2949Asp) n.8915T>G c.*4527T>G (n.*4527T>G) c.8770T>G (p.Tyr2924Asp) c.8842T>G (p.Tyr2948Asp) c.8767T>G (p.Tyr2923Asp) c.8467T>G (p.Tyr2823Asp) c.5731T>G (p.Tyr1911Asp) c.4624T>G (p.Tyr1542Asp) c.8650T>G (p.Tyr2884Asp) c.4402T>G (p.Tyr1468Asp) c.7630T>G (p.Tyr2544Asp) | |
8 | g.99819561A>C | CA371776641 | VPS13B | c.8846A>C (p.Tyr2949Ser) n.8916A>C c.*4528A>C (n.*4528A>C) c.8771A>C (p.Tyr2924Ser) c.8843A>C (p.Tyr2948Ser) c.8768A>C (p.Tyr2923Ser) c.8468A>C (p.Tyr2823Ser) c.5732A>C (p.Tyr1911Ser) c.4625A>C (p.Tyr1542Ser) c.8651A>C (p.Tyr2884Ser) c.4403A>C (p.Tyr1468Ser) c.7631A>C (p.Tyr2544Ser) | |
8 | g.99819561A>G | CA182328763 | VPS13B | c.8846A>G (p.Tyr2949Cys) n.8916A>G c.*4528A>G (n.*4528A>G) c.8771A>G (p.Tyr2924Cys) c.8843A>G (p.Tyr2948Cys) c.8768A>G (p.Tyr2923Cys) c.8468A>G (p.Tyr2823Cys) c.5732A>G (p.Tyr1911Cys) c.4625A>G (p.Tyr1542Cys) c.8651A>G (p.Tyr2884Cys) c.4403A>G (p.Tyr1468Cys) c.7631A>G (p.Tyr2544Cys) | dbSNP gnomAD v4 |
8 | g.99819561A>T | CA371776639 | VPS13B | c.8846A>T (p.Tyr2949Phe) n.8916A>T c.*4528A>T (n.*4528A>T) c.8771A>T (p.Tyr2924Phe) c.8843A>T (p.Tyr2948Phe) c.8768A>T (p.Tyr2923Phe) c.8468A>T (p.Tyr2823Phe) c.5732A>T (p.Tyr1911Phe) c.4625A>T (p.Tyr1542Phe) c.8651A>T (p.Tyr2884Phe) c.4403A>T (p.Tyr1468Phe) c.7631A>T (p.Tyr2544Phe) | |
8 | g.99819565_99819567del | CA2688070108 | VPS13B | c.8850_8852del (p.Asn2950del) n.8920_8922del c.*4532_*4534del (n.*4532_*4534del) c.8775_8777del (p.Asn2925del) c.8847_8849del (p.Asn2949del) c.8772_8774del (p.Asn2924del) c.8472_8474del (p.Asn2824del) c.5736_5738del (p.Asn1912del) c.4629_4631del (p.Asn1543del) c.8655_8657del (p.Asn2885del) c.4407_4409del (p.Asn1469del) c.7635_7637del (p.Asn2545del) | gnomAD v4 |
8 | g.99819561_99819562insCT | CA2781476116 | VPS13B | c.8846_8847insCT (p.Asn2950LeufsTer12) n.8916_8917insCT c.*4528_*4529insCT (n.*4528_*4529insCT) c.8771_8772insCT (p.Asn2925LeufsTer12) c.8843_8844insCT (p.Asn2949LeufsTer12) c.8768_8769insCT (p.Asn2924LeufsTer12) c.8468_8469insCT (p.Asn2824LeufsTer12) c.5732_5733insCT (p.Asn1912LeufsTer12) c.4625_4626insCT (p.Asn1543LeufsTer12) c.8651_8652insCT (p.Asn2885LeufsTer12) c.4403_4404insCT (p.Asn1469LeufsTer12) c.7631_7632insCT (p.Asn2545LeufsTer12) | |
8 | g.99819562T>A | CA371776644 | VPS13B | c.8847T>A (p.Tyr2949Ter) n.8917T>A c.*4529T>A (n.*4529T>A) c.8772T>A (p.Tyr2924Ter) c.8844T>A (p.Tyr2948Ter) c.8769T>A (p.Tyr2923Ter) c.8469T>A (p.Tyr2823Ter) c.5733T>A (p.Tyr1911Ter) c.4626T>A (p.Tyr1542Ter) c.8652T>A (p.Tyr2884Ter) c.4404T>A (p.Tyr1468Ter) c.7632T>A (p.Tyr2544Ter) | |
8 | g.99819562T>C | CA462339530 | VPS13B | c.8847T>C (p.Tyr2949=) n.8917T>C c.*4529T>C (n.*4529T>C) c.8772T>C (p.Tyr2924=) c.8844T>C (p.Tyr2948=) c.8769T>C (p.Tyr2923=) c.8469T>C (p.Tyr2823=) c.5733T>C (p.Tyr1911=) c.4626T>C (p.Tyr1542=) c.8652T>C (p.Tyr2884=) c.4404T>C (p.Tyr1468=) c.7632T>C (p.Tyr2544=) | dbSNP |
8 | g.99819562T>G | CA371776646 | VPS13B | c.8847T>G (p.Tyr2949Ter) n.8917T>G c.*4529T>G (n.*4529T>G) c.8772T>G (p.Tyr2924Ter) c.8844T>G (p.Tyr2948Ter) c.8769T>G (p.Tyr2923Ter) c.8469T>G (p.Tyr2823Ter) c.5733T>G (p.Tyr1911Ter) c.4626T>G (p.Tyr1542Ter) c.8652T>G (p.Tyr2884Ter) c.4404T>G (p.Tyr1468Ter) c.7632T>G (p.Tyr2544Ter) | |
8 | g.99819563A>C | CA371776648 | VPS13B | c.8848A>C (p.Asn2950His) n.8918A>C c.*4530A>C (n.*4530A>C) c.8773A>C (p.Asn2925His) c.8845A>C (p.Asn2949His) c.8770A>C (p.Asn2924His) c.8470A>C (p.Asn2824His) c.5734A>C (p.Asn1912His) c.4627A>C (p.Asn1543His) c.8653A>C (p.Asn2885His) c.4405A>C (p.Asn1469His) c.7633A>C (p.Asn2545His) | |
8 | g.99819563A>G | CA371776650 | VPS13B | c.8848A>G (p.Asn2950Asp) n.8918A>G c.*4530A>G (n.*4530A>G) c.8773A>G (p.Asn2925Asp) c.8845A>G (p.Asn2949Asp) c.8770A>G (p.Asn2924Asp) c.8470A>G (p.Asn2824Asp) c.5734A>G (p.Asn1912Asp) c.4627A>G (p.Asn1543Asp) c.8653A>G (p.Asn2885Asp) c.4405A>G (p.Asn1469Asp) c.7633A>G (p.Asn2545Asp) | gnomAD v4 |
8 | g.99819563A>T | CA371776651 | VPS13B | c.8848A>T (p.Asn2950Tyr) n.8918A>T c.*4530A>T (n.*4530A>T) c.8773A>T (p.Asn2925Tyr) c.8845A>T (p.Asn2949Tyr) c.8770A>T (p.Asn2924Tyr) c.8470A>T (p.Asn2824Tyr) c.5734A>T (p.Asn1912Tyr) c.4627A>T (p.Asn1543Tyr) c.8653A>T (p.Asn2885Tyr) c.4405A>T (p.Asn1469Tyr) c.7633A>T (p.Asn2545Tyr) | |
8 | g.99819564A>C | CA371776655 | VPS13B | c.8849A>C (p.Asn2950Thr) n.8919A>C c.*4531A>C (n.*4531A>C) c.8774A>C (p.Asn2925Thr) c.8846A>C (p.Asn2949Thr) c.8771A>C (p.Asn2924Thr) c.8471A>C (p.Asn2824Thr) c.5735A>C (p.Asn1912Thr) c.4628A>C (p.Asn1543Thr) c.8654A>C (p.Asn2885Thr) c.4406A>C (p.Asn1469Thr) c.7634A>C (p.Asn2545Thr) | |
8 | g.99819564A>G | CA4824542 | VPS13B | c.8849A>G (p.Asn2950Ser) n.8919A>G c.*4531A>G (n.*4531A>G) c.8774A>G (p.Asn2925Ser) c.8846A>G (p.Asn2949Ser) c.8771A>G (p.Asn2924Ser) c.8471A>G (p.Asn2824Ser) c.5735A>G (p.Asn1912Ser) c.4628A>G (p.Asn1543Ser) c.8654A>G (p.Asn2885Ser) c.4406A>G (p.Asn1469Ser) c.7634A>G (p.Asn2545Ser) | dbSNP ExAC gnomAD v4 |
8 | g.99819564A>T | CA371776653 | VPS13B | c.8849A>T (p.Asn2950Ile) n.8919A>T c.*4531A>T (n.*4531A>T) c.8774A>T (p.Asn2925Ile) c.8846A>T (p.Asn2949Ile) c.8771A>T (p.Asn2924Ile) c.8471A>T (p.Asn2824Ile) c.5735A>T (p.Asn1912Ile) c.4628A>T (p.Asn1543Ile) c.8654A>T (p.Asn2885Ile) c.4406A>T (p.Asn1469Ile) c.7634A>T (p.Asn2545Ile) | |
8 | g.99819565T>A | CA371776656 | VPS13B | c.8850T>A (p.Asn2950Lys) n.8920T>A c.*4532T>A (n.*4532T>A) c.8775T>A (p.Asn2925Lys) c.8847T>A (p.Asn2949Lys) c.8772T>A (p.Asn2924Lys) c.8472T>A (p.Asn2824Lys) c.5736T>A (p.Asn1912Lys) c.4629T>A (p.Asn1543Lys) c.8655T>A (p.Asn2885Lys) c.4407T>A (p.Asn1469Lys) c.7635T>A (p.Asn2545Lys) | |
8 | g.99819565T>C | CA462339531 | VPS13B | c.8850T>C (p.Asn2950=) n.8920T>C c.*4532T>C (n.*4532T>C) c.8775T>C (p.Asn2925=) c.8847T>C (p.Asn2949=) c.8772T>C (p.Asn2924=) c.8472T>C (p.Asn2824=) c.5736T>C (p.Asn1912=) c.4629T>C (p.Asn1543=) c.8655T>C (p.Asn2885=) c.4407T>C (p.Asn1469=) c.7635T>C (p.Asn2545=) | |
8 | g.99819565T>G | CA371776657 | VPS13B | c.8850T>G (p.Asn2950Lys) n.8920T>G c.*4532T>G (n.*4532T>G) c.8775T>G (p.Asn2925Lys) c.8847T>G (p.Asn2949Lys) c.8772T>G (p.Asn2924Lys) c.8472T>G (p.Asn2824Lys) c.5736T>G (p.Asn1912Lys) c.4629T>G (p.Asn1543Lys) c.8655T>G (p.Asn2885Lys) c.4407T>G (p.Asn1469Lys) c.7635T>G (p.Asn2545Lys) | gnomAD v4 |
8 | g.99819566A>C | CA371776662 | VPS13B | c.8851A>C (p.Lys2951Gln) n.8921A>C c.*4533A>C (n.*4533A>C) c.8776A>C (p.Lys2926Gln) c.8848A>C (p.Lys2950Gln) c.8773A>C (p.Lys2925Gln) c.8473A>C (p.Lys2825Gln) c.5737A>C (p.Lys1913Gln) c.4630A>C (p.Lys1544Gln) c.8656A>C (p.Lys2886Gln) c.4408A>C (p.Lys1470Gln) c.7636A>C (p.Lys2546Gln) | |
8 | g.99819566A>G | CA371776663 | VPS13B | c.8851A>G (p.Lys2951Glu) n.8921A>G c.*4533A>G (n.*4533A>G) c.8776A>G (p.Lys2926Glu) c.8848A>G (p.Lys2950Glu) c.8773A>G (p.Lys2925Glu) c.8473A>G (p.Lys2825Glu) c.5737A>G (p.Lys1913Glu) c.4630A>G (p.Lys1544Glu) c.8656A>G (p.Lys2886Glu) c.4408A>G (p.Lys1470Glu) c.7636A>G (p.Lys2546Glu) | |
8 | g.99819566A>T | CA371776664 | VPS13B | c.8851A>T (p.Lys2951Ter) n.8921A>T c.*4533A>T (n.*4533A>T) c.8776A>T (p.Lys2926Ter) c.8848A>T (p.Lys2950Ter) c.8773A>T (p.Lys2925Ter) c.8473A>T (p.Lys2825Ter) c.5737A>T (p.Lys1913Ter) c.4630A>T (p.Lys1544Ter) c.8656A>T (p.Lys2886Ter) c.4408A>T (p.Lys1470Ter) c.7636A>T (p.Lys2546Ter) | |
8 | g.99819569_99819571del | CA4824543 | VPS13B | c.8854_8856del (p.Lys2952del) n.8924_8926del c.*4536_*4538del (n.*4536_*4538del) c.8779_8781del (p.Lys2927del) c.8851_8853del (p.Lys2951del) c.8776_8778del (p.Lys2926del) c.8476_8478del (p.Lys2826del) c.5740_5742del (p.Lys1914del) c.4633_4635del (p.Lys1545del) c.8659_8661del (p.Lys2887del) c.4411_4413del (p.Lys1471del) c.7639_7641del (p.Lys2547del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819567A>C | CA371776672 | VPS13B | c.8852A>C (p.Lys2951Thr) n.8922A>C c.*4534A>C (n.*4534A>C) c.8777A>C (p.Lys2926Thr) c.8849A>C (p.Lys2950Thr) c.8774A>C (p.Lys2925Thr) c.8474A>C (p.Lys2825Thr) c.5738A>C (p.Lys1913Thr) c.4631A>C (p.Lys1544Thr) c.8657A>C (p.Lys2886Thr) c.4409A>C (p.Lys1470Thr) c.7637A>C (p.Lys2546Thr) | |
8 | g.99819567A>G | CA371776676 | VPS13B | c.8852A>G (p.Lys2951Arg) n.8922A>G c.*4534A>G (n.*4534A>G) c.8777A>G (p.Lys2926Arg) c.8849A>G (p.Lys2950Arg) c.8774A>G (p.Lys2925Arg) c.8474A>G (p.Lys2825Arg) c.5738A>G (p.Lys1913Arg) c.4631A>G (p.Lys1544Arg) c.8657A>G (p.Lys2886Arg) c.4409A>G (p.Lys1470Arg) c.7637A>G (p.Lys2546Arg) | |
8 | g.99819567A>T | CA371776674 | VPS13B | c.8852A>T (p.Lys2951Met) n.8922A>T c.*4534A>T (n.*4534A>T) c.8777A>T (p.Lys2926Met) c.8849A>T (p.Lys2950Met) c.8774A>T (p.Lys2925Met) c.8474A>T (p.Lys2825Met) c.5738A>T (p.Lys1913Met) c.4631A>T (p.Lys1544Met) c.8657A>T (p.Lys2886Met) c.4409A>T (p.Lys1470Met) c.7637A>T (p.Lys2546Met) | |
8 | g.99819568G>A | CA462339532 | VPS13B | c.8853G>A (p.Lys2951=) n.8923G>A c.*4535G>A (n.*4535G>A) c.8778G>A (p.Lys2926=) c.8850G>A (p.Lys2950=) c.8775G>A (p.Lys2925=) c.8475G>A (p.Lys2825=) c.5739G>A (p.Lys1913=) c.4632G>A (p.Lys1544=) c.8658G>A (p.Lys2886=) c.4410G>A (p.Lys1470=) c.7638G>A (p.Lys2546=) | |
8 | g.99819568G>C | CA371776678 | VPS13B | c.8853G>C (p.Lys2951Asn) n.8923G>C c.*4535G>C (n.*4535G>C) c.8778G>C (p.Lys2926Asn) c.8850G>C (p.Lys2950Asn) c.8775G>C (p.Lys2925Asn) c.8475G>C (p.Lys2825Asn) c.5739G>C (p.Lys1913Asn) c.4632G>C (p.Lys1544Asn) c.8658G>C (p.Lys2886Asn) c.4410G>C (p.Lys1470Asn) c.7638G>C (p.Lys2546Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819568G>T | CA371776680 | VPS13B | c.8853G>T (p.Lys2951Asn) n.8923G>T c.*4535G>T (n.*4535G>T) c.8778G>T (p.Lys2926Asn) c.8850G>T (p.Lys2950Asn) c.8775G>T (p.Lys2925Asn) c.8475G>T (p.Lys2825Asn) c.5739G>T (p.Lys1913Asn) c.4632G>T (p.Lys1544Asn) c.8658G>T (p.Lys2886Asn) c.4410G>T (p.Lys1470Asn) c.7638G>T (p.Lys2546Asn) | dbSNP |
8 | g.99819569A>C | CA371776683 | VPS13B | c.8854A>C (p.Lys2952Gln) n.8924A>C c.*4536A>C (n.*4536A>C) c.8779A>C (p.Lys2927Gln) c.8851A>C (p.Lys2951Gln) c.8776A>C (p.Lys2926Gln) c.8476A>C (p.Lys2826Gln) c.5740A>C (p.Lys1914Gln) c.4633A>C (p.Lys1545Gln) c.8659A>C (p.Lys2887Gln) c.4411A>C (p.Lys1471Gln) c.7639A>C (p.Lys2547Gln) | |
8 | g.99819569A>G | CA371776685 | VPS13B | c.8854A>G (p.Lys2952Glu) n.8924A>G c.*4536A>G (n.*4536A>G) c.8779A>G (p.Lys2927Glu) c.8851A>G (p.Lys2951Glu) c.8776A>G (p.Lys2926Glu) c.8476A>G (p.Lys2826Glu) c.5740A>G (p.Lys1914Glu) c.4633A>G (p.Lys1545Glu) c.8659A>G (p.Lys2887Glu) c.4411A>G (p.Lys1471Glu) c.7639A>G (p.Lys2547Glu) | ClinVar |
8 | g.99819569A>T | CA371776686 | VPS13B | c.8854A>T (p.Lys2952Ter) n.8924A>T c.*4536A>T (n.*4536A>T) c.8779A>T (p.Lys2927Ter) c.8851A>T (p.Lys2951Ter) c.8776A>T (p.Lys2926Ter) c.8476A>T (p.Lys2826Ter) c.5740A>T (p.Lys1914Ter) c.4633A>T (p.Lys1545Ter) c.8659A>T (p.Lys2887Ter) c.4411A>T (p.Lys1471Ter) c.7639A>T (p.Lys2547Ter) | |
8 | g.99819570A>C | CA371776687 | VPS13B | c.8855A>C (p.Lys2952Thr) n.8925A>C c.*4537A>C (n.*4537A>C) c.8780A>C (p.Lys2927Thr) c.8852A>C (p.Lys2951Thr) c.8777A>C (p.Lys2926Thr) c.8477A>C (p.Lys2826Thr) c.5741A>C (p.Lys1914Thr) c.4634A>C (p.Lys1545Thr) c.8660A>C (p.Lys2887Thr) c.4412A>C (p.Lys1471Thr) c.7640A>C (p.Lys2547Thr) | |
8 | g.99819570A>G | CA371776689 | VPS13B | c.8855A>G (p.Lys2952Arg) n.8925A>G c.*4537A>G (n.*4537A>G) c.8780A>G (p.Lys2927Arg) c.8852A>G (p.Lys2951Arg) c.8777A>G (p.Lys2926Arg) c.8477A>G (p.Lys2826Arg) c.5741A>G (p.Lys1914Arg) c.4634A>G (p.Lys1545Arg) c.8660A>G (p.Lys2887Arg) c.4412A>G (p.Lys1471Arg) c.7640A>G (p.Lys2547Arg) | gnomAD v4 |
8 | g.99819570A>T | CA371776691 | VPS13B | c.8855A>T (p.Lys2952Met) n.8925A>T c.*4537A>T (n.*4537A>T) c.8780A>T (p.Lys2927Met) c.8852A>T (p.Lys2951Met) c.8777A>T (p.Lys2926Met) c.8477A>T (p.Lys2826Met) c.5741A>T (p.Lys1914Met) c.4634A>T (p.Lys1545Met) c.8660A>T (p.Lys2887Met) c.4412A>T (p.Lys1471Met) c.7640A>T (p.Lys2547Met) | |
8 | g.99819571G>A | CA462339533 | VPS13B | c.8856G>A (p.Lys2952=) n.8926G>A c.*4538G>A (n.*4538G>A) c.8781G>A (p.Lys2927=) c.8853G>A (p.Lys2951=) c.8778G>A (p.Lys2926=) c.8478G>A (p.Lys2826=) c.5742G>A (p.Lys1914=) c.4635G>A (p.Lys1545=) c.8661G>A (p.Lys2887=) c.4413G>A (p.Lys1471=) c.7641G>A (p.Lys2547=) | |
8 | g.99819571G>C | CA371776694 | VPS13B | c.8856G>C (p.Lys2952Asn) n.8926G>C c.*4538G>C (n.*4538G>C) c.8781G>C (p.Lys2927Asn) c.8853G>C (p.Lys2951Asn) c.8778G>C (p.Lys2926Asn) c.8478G>C (p.Lys2826Asn) c.5742G>C (p.Lys1914Asn) c.4635G>C (p.Lys1545Asn) c.8661G>C (p.Lys2887Asn) c.4413G>C (p.Lys1471Asn) c.7641G>C (p.Lys2547Asn) | |
8 | g.99819571G>T | CA371776697 | VPS13B | c.8856G>T (p.Lys2952Asn) n.8926G>T c.*4538G>T (n.*4538G>T) c.8781G>T (p.Lys2927Asn) c.8853G>T (p.Lys2951Asn) c.8778G>T (p.Lys2926Asn) c.8478G>T (p.Lys2826Asn) c.5742G>T (p.Lys1914Asn) c.4635G>T (p.Lys1545Asn) c.8661G>T (p.Lys2887Asn) c.4413G>T (p.Lys1471Asn) c.7641G>T (p.Lys2547Asn) | |
8 | g.99819572G>A | CA371776710 | VPS13B | c.8857G>A (p.Asp2953Asn) n.8927G>A c.*4539G>A (n.*4539G>A) c.8782G>A (p.Asp2928Asn) c.8854G>A (p.Asp2952Asn) c.8779G>A (p.Asp2927Asn) c.8479G>A (p.Asp2827Asn) c.5743G>A (p.Asp1915Asn) c.4636G>A (p.Asp1546Asn) c.8662G>A (p.Asp2888Asn) c.4414G>A (p.Asp1472Asn) c.7642G>A (p.Asp2548Asn) | |
8 | g.99819572G>C | CA371776712 | VPS13B | c.8857G>C (p.Asp2953His) n.8927G>C c.*4539G>C (n.*4539G>C) c.8782G>C (p.Asp2928His) c.8854G>C (p.Asp2952His) c.8779G>C (p.Asp2927His) c.8479G>C (p.Asp2827His) c.5743G>C (p.Asp1915His) c.4636G>C (p.Asp1546His) c.8662G>C (p.Asp2888His) c.4414G>C (p.Asp1472His) c.7642G>C (p.Asp2548His) | |
8 | g.99819572G>T | CA371776708 | VPS13B | c.8857G>T (p.Asp2953Tyr) n.8927G>T c.*4539G>T (n.*4539G>T) c.8782G>T (p.Asp2928Tyr) c.8854G>T (p.Asp2952Tyr) c.8779G>T (p.Asp2927Tyr) c.8479G>T (p.Asp2827Tyr) c.5743G>T (p.Asp1915Tyr) c.4636G>T (p.Asp1546Tyr) c.8662G>T (p.Asp2888Tyr) c.4414G>T (p.Asp1472Tyr) c.7642G>T (p.Asp2548Tyr) | dbSNP gnomAD v4 |
8 | g.99819573A>C | CA371776713 | VPS13B | c.8858A>C (p.Asp2953Ala) n.8928A>C c.*4540A>C (n.*4540A>C) c.8783A>C (p.Asp2928Ala) c.8855A>C (p.Asp2952Ala) c.8780A>C (p.Asp2927Ala) c.8480A>C (p.Asp2827Ala) c.5744A>C (p.Asp1915Ala) c.4637A>C (p.Asp1546Ala) c.8663A>C (p.Asp2888Ala) c.4415A>C (p.Asp1472Ala) c.7643A>C (p.Asp2548Ala) | |
8 | g.99819573A>G | CA371776718 | VPS13B | c.8858A>G (p.Asp2953Gly) n.8928A>G c.*4540A>G (n.*4540A>G) c.8783A>G (p.Asp2928Gly) c.8855A>G (p.Asp2952Gly) c.8780A>G (p.Asp2927Gly) c.8480A>G (p.Asp2827Gly) c.5744A>G (p.Asp1915Gly) c.4637A>G (p.Asp1546Gly) c.8663A>G (p.Asp2888Gly) c.4415A>G (p.Asp1472Gly) c.7643A>G (p.Asp2548Gly) | gnomAD v4 |
8 | g.99819573A>T | CA371776715 | VPS13B | c.8858A>T (p.Asp2953Val) n.8928A>T c.*4540A>T (n.*4540A>T) c.8783A>T (p.Asp2928Val) c.8855A>T (p.Asp2952Val) c.8780A>T (p.Asp2927Val) c.8480A>T (p.Asp2827Val) c.5744A>T (p.Asp1915Val) c.4637A>T (p.Asp1546Val) c.8663A>T (p.Asp2888Val) c.4415A>T (p.Asp1472Val) c.7643A>T (p.Asp2548Val) | |
8 | g.99819574T>A | CA371776722 | VPS13B | c.8859T>A (p.Asp2953Glu) n.8929T>A c.*4541T>A (n.*4541T>A) c.8784T>A (p.Asp2928Glu) c.8856T>A (p.Asp2952Glu) c.8781T>A (p.Asp2927Glu) c.8481T>A (p.Asp2827Glu) c.5745T>A (p.Asp1915Glu) c.4638T>A (p.Asp1546Glu) c.8664T>A (p.Asp2888Glu) c.4416T>A (p.Asp1472Glu) c.7644T>A (p.Asp2548Glu) | |
8 | g.99819574T>C | CA462339534 | VPS13B | c.8859T>C (p.Asp2953=) n.8929T>C c.*4541T>C (n.*4541T>C) c.8784T>C (p.Asp2928=) c.8856T>C (p.Asp2952=) c.8781T>C (p.Asp2927=) c.8481T>C (p.Asp2827=) c.5745T>C (p.Asp1915=) c.4638T>C (p.Asp1546=) c.8664T>C (p.Asp2888=) c.4416T>C (p.Asp1472=) c.7644T>C (p.Asp2548=) | ClinVar dbSNP |
8 | g.99819574T>G | CA371776724 | VPS13B | c.8859T>G (p.Asp2953Glu) n.8929T>G c.*4541T>G (n.*4541T>G) c.8784T>G (p.Asp2928Glu) c.8856T>G (p.Asp2952Glu) c.8781T>G (p.Asp2927Glu) c.8481T>G (p.Asp2827Glu) c.5745T>G (p.Asp1915Glu) c.4638T>G (p.Asp1546Glu) c.8664T>G (p.Asp2888Glu) c.4416T>G (p.Asp1472Glu) c.7644T>G (p.Asp2548Glu) | |
8 | g.99819575T>A | CA371776727 | VPS13B | c.8860T>A (p.Ser2954Thr) n.8930T>A c.*4542T>A (n.*4542T>A) c.8785T>A (p.Ser2929Thr) c.8857T>A (p.Ser2953Thr) c.8782T>A (p.Ser2928Thr) c.8482T>A (p.Ser2828Thr) c.5746T>A (p.Ser1916Thr) c.4639T>A (p.Ser1547Thr) c.8665T>A (p.Ser2889Thr) c.4417T>A (p.Ser1473Thr) c.7645T>A (p.Ser2549Thr) | |
8 | g.99819575T>C | CA371776728 | VPS13B | c.8860T>C (p.Ser2954Pro) n.8930T>C c.*4542T>C (n.*4542T>C) c.8785T>C (p.Ser2929Pro) c.8857T>C (p.Ser2953Pro) c.8782T>C (p.Ser2928Pro) c.8482T>C (p.Ser2828Pro) c.5746T>C (p.Ser1916Pro) c.4639T>C (p.Ser1547Pro) c.8665T>C (p.Ser2889Pro) c.4417T>C (p.Ser1473Pro) c.7645T>C (p.Ser2549Pro) | |
8 | g.99819575T>G | CA371776730 | VPS13B | c.8860T>G (p.Ser2954Ala) n.8930T>G c.*4542T>G (n.*4542T>G) c.8785T>G (p.Ser2929Ala) c.8857T>G (p.Ser2953Ala) c.8782T>G (p.Ser2928Ala) c.8482T>G (p.Ser2828Ala) c.5746T>G (p.Ser1916Ala) c.4639T>G (p.Ser1547Ala) c.8665T>G (p.Ser2889Ala) c.4417T>G (p.Ser1473Ala) c.7645T>G (p.Ser2549Ala) | |
8 | g.99819575_99819576insAGTG | CA2781476117 | VPS13B | c.8860_8861insAGTG (p.Ser2954Ter) n.8930_8931insAGTG c.*4542_*4543insAGTG (n.*4542_*4543insAGTG) c.8785_8786insAGTG (p.Ser2929Ter) c.8857_8858insAGTG (p.Ser2953Ter) c.8782_8783insAGTG (p.Ser2928Ter) c.8482_8483insAGTG (p.Ser2828Ter) c.5746_5747insAGTG (p.Ser1916Ter) c.4639_4640insAGTG (p.Ser1547Ter) c.8665_8666insAGTG (p.Ser2889Ter) c.4417_4418insAGTG (p.Ser1473Ter) c.7645_7646insAGTG (p.Ser2549Ter) | |
8 | g.99819576C>A | CA371776733 | VPS13B | c.8861C>A (p.Ser2954Tyr) n.8931C>A c.*4543C>A (n.*4543C>A) c.8786C>A (p.Ser2929Tyr) c.8858C>A (p.Ser2953Tyr) c.8783C>A (p.Ser2928Tyr) c.8483C>A (p.Ser2828Tyr) c.5747C>A (p.Ser1916Tyr) c.4640C>A (p.Ser1547Tyr) c.8666C>A (p.Ser2889Tyr) c.4418C>A (p.Ser1473Tyr) c.7646C>A (p.Ser2549Tyr) | ClinVar gnomAD v4 |
8 | g.99819576C>G | CA371776734 | VPS13B | c.8861C>G (p.Ser2954Cys) n.8931C>G c.*4543C>G (n.*4543C>G) c.8786C>G (p.Ser2929Cys) c.8858C>G (p.Ser2953Cys) c.8783C>G (p.Ser2928Cys) c.8483C>G (p.Ser2828Cys) c.5747C>G (p.Ser1916Cys) c.4640C>G (p.Ser1547Cys) c.8666C>G (p.Ser2889Cys) c.4418C>G (p.Ser1473Cys) c.7646C>G (p.Ser2549Cys) | |
8 | g.99819576C>T | CA371776736 | VPS13B | c.8861C>T (p.Ser2954Phe) n.8931C>T c.*4543C>T (n.*4543C>T) c.8786C>T (p.Ser2929Phe) c.8858C>T (p.Ser2953Phe) c.8783C>T (p.Ser2928Phe) c.8483C>T (p.Ser2828Phe) c.5747C>T (p.Ser1916Phe) c.4640C>T (p.Ser1547Phe) c.8666C>T (p.Ser2889Phe) c.4418C>T (p.Ser1473Phe) c.7646C>T (p.Ser2549Phe) | |
8 | g.99819577T>A | CA462339535 | VPS13B | c.8862T>A (p.Ser2954=) n.8932T>A c.*4544T>A (n.*4544T>A) c.8787T>A (p.Ser2929=) c.8859T>A (p.Ser2953=) c.8784T>A (p.Ser2928=) c.8484T>A (p.Ser2828=) c.5748T>A (p.Ser1916=) c.4641T>A (p.Ser1547=) c.8667T>A (p.Ser2889=) c.4419T>A (p.Ser1473=) c.7647T>A (p.Ser2549=) | |
8 | g.99819577T>C | CA462339536 | VPS13B | c.8862T>C (p.Ser2954=) n.8932T>C c.*4544T>C (n.*4544T>C) c.8787T>C (p.Ser2929=) c.8859T>C (p.Ser2953=) c.8784T>C (p.Ser2928=) c.8484T>C (p.Ser2828=) c.5748T>C (p.Ser1916=) c.4641T>C (p.Ser1547=) c.8667T>C (p.Ser2889=) c.4419T>C (p.Ser1473=) c.7647T>C (p.Ser2549=) | ClinVar dbSNP gnomAD v4 |
8 | g.99819577T>G | CA462339537 | VPS13B | c.8862T>G (p.Ser2954=) n.8932T>G c.*4544T>G (n.*4544T>G) c.8787T>G (p.Ser2929=) c.8859T>G (p.Ser2953=) c.8784T>G (p.Ser2928=) c.8484T>G (p.Ser2828=) c.5748T>G (p.Ser1916=) c.4641T>G (p.Ser1547=) c.8667T>G (p.Ser2889=) c.4419T>G (p.Ser1473=) c.7647T>G (p.Ser2549=) | |
8 | g.99819577_99819578insA | CA2781476118 | VPS13B | c.8862_8863insA (p.Asp2955ArgfsTer4) n.8932_8933insA c.*4544_*4545insA (n.*4544_*4545insA) c.8787_8788insA (p.Asp2930ArgfsTer4) c.8859_8860insA (p.Asp2954ArgfsTer4) c.8784_8785insA (p.Asp2929ArgfsTer4) c.8484_8485insA (p.Asp2829ArgfsTer4) c.5748_5749insA (p.Asp1917ArgfsTer4) c.4641_4642insA (p.Asp1548ArgfsTer4) c.8667_8668insA (p.Asp2890ArgfsTer4) c.4419_4420insA (p.Asp1474ArgfsTer4) c.7647_7648insA (p.Asp2550ArgfsTer4) | |
8 | g.99819578G>A | CA371776738 | VPS13B | c.8863G>A (p.Asp2955Asn) n.8933G>A c.*4545G>A (n.*4545G>A) c.8788G>A (p.Asp2930Asn) c.8860G>A (p.Asp2954Asn) c.8785G>A (p.Asp2929Asn) c.8485G>A (p.Asp2829Asn) c.5749G>A (p.Asp1917Asn) c.4642G>A (p.Asp1548Asn) c.8668G>A (p.Asp2890Asn) c.4420G>A (p.Asp1474Asn) c.7648G>A (p.Asp2550Asn) | ClinVar dbSNP gnomAD v4 |
8 | g.99819578G>C | CA371776740 | VPS13B | c.8863G>C (p.Asp2955His) n.8933G>C c.*4545G>C (n.*4545G>C) c.8788G>C (p.Asp2930His) c.8860G>C (p.Asp2954His) c.8785G>C (p.Asp2929His) c.8485G>C (p.Asp2829His) c.5749G>C (p.Asp1917His) c.4642G>C (p.Asp1548His) c.8668G>C (p.Asp2890His) c.4420G>C (p.Asp1474His) c.7648G>C (p.Asp2550His) | |
8 | g.99819578G>T | CA371776742 | VPS13B | c.8863G>T (p.Asp2955Tyr) n.8933G>T c.*4545G>T (n.*4545G>T) c.8788G>T (p.Asp2930Tyr) c.8860G>T (p.Asp2954Tyr) c.8785G>T (p.Asp2929Tyr) c.8485G>T (p.Asp2829Tyr) c.5749G>T (p.Asp1917Tyr) c.4642G>T (p.Asp1548Tyr) c.8668G>T (p.Asp2890Tyr) c.4420G>T (p.Asp1474Tyr) c.7648G>T (p.Asp2550Tyr) | |
8 | g.99819579A>C | CA371776744 | VPS13B | c.8864A>C (p.Asp2955Ala) n.8934A>C c.*4546A>C (n.*4546A>C) c.8789A>C (p.Asp2930Ala) c.8861A>C (p.Asp2954Ala) c.8786A>C (p.Asp2929Ala) c.8486A>C (p.Asp2829Ala) c.5750A>C (p.Asp1917Ala) c.4643A>C (p.Asp1548Ala) c.8669A>C (p.Asp2890Ala) c.4421A>C (p.Asp1474Ala) c.7649A>C (p.Asp2550Ala) | |
8 | g.99819579A>G | CA371776746 | VPS13B | c.8864A>G (p.Asp2955Gly) n.8934A>G c.*4546A>G (n.*4546A>G) c.8789A>G (p.Asp2930Gly) c.8861A>G (p.Asp2954Gly) c.8786A>G (p.Asp2929Gly) c.8486A>G (p.Asp2829Gly) c.5750A>G (p.Asp1917Gly) c.4643A>G (p.Asp1548Gly) c.8669A>G (p.Asp2890Gly) c.4421A>G (p.Asp1474Gly) c.7649A>G (p.Asp2550Gly) | |
8 | g.99819579A>T | CA371776747 | VPS13B | c.8864A>T (p.Asp2955Val) n.8934A>T c.*4546A>T (n.*4546A>T) c.8789A>T (p.Asp2930Val) c.8861A>T (p.Asp2954Val) c.8786A>T (p.Asp2929Val) c.8486A>T (p.Asp2829Val) c.5750A>T (p.Asp1917Val) c.4643A>T (p.Asp1548Val) c.8669A>T (p.Asp2890Val) c.4421A>T (p.Asp1474Val) c.7649A>T (p.Asp2550Val) | |
8 | g.99819580C>A | CA371776750 | VPS13B | c.8865C>A (p.Asp2955Glu) n.8935C>A c.*4547C>A (n.*4547C>A) c.8790C>A (p.Asp2930Glu) c.8862C>A (p.Asp2954Glu) c.8787C>A (p.Asp2929Glu) c.8487C>A (p.Asp2829Glu) c.5751C>A (p.Asp1917Glu) c.4644C>A (p.Asp1548Glu) c.8670C>A (p.Asp2890Glu) c.4422C>A (p.Asp1474Glu) c.7650C>A (p.Asp2550Glu) | |
8 | g.99819580C>G | CA371776749 | VPS13B | c.8865C>G (p.Asp2955Glu) n.8935C>G c.*4547C>G (n.*4547C>G) c.8790C>G (p.Asp2930Glu) c.8862C>G (p.Asp2954Glu) c.8787C>G (p.Asp2929Glu) c.8487C>G (p.Asp2829Glu) c.5751C>G (p.Asp1917Glu) c.4644C>G (p.Asp1548Glu) c.8670C>G (p.Asp2890Glu) c.4422C>G (p.Asp1474Glu) c.7650C>G (p.Asp2550Glu) | |
8 | g.99819580C>T | CA462339538 | VPS13B | c.8865C>T (p.Asp2955=) n.8935C>T c.*4547C>T (n.*4547C>T) c.8790C>T (p.Asp2930=) c.8862C>T (p.Asp2954=) c.8787C>T (p.Asp2929=) c.8487C>T (p.Asp2829=) c.5751C>T (p.Asp1917=) c.4644C>T (p.Asp1548=) c.8670C>T (p.Asp2890=) c.4422C>T (p.Asp1474=) c.7650C>T (p.Asp2550=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819581A>C | CA462339539 | VPS13B | c.8866A>C (p.Arg2956=) n.8936A>C c.*4548A>C (n.*4548A>C) c.8791A>C (p.Arg2931=) c.8863A>C (p.Arg2955=) c.8788A>C (p.Arg2930=) c.8488A>C (p.Arg2830=) c.5752A>C (p.Arg1918=) c.4645A>C (p.Arg1549=) c.8671A>C (p.Arg2891=) c.4423A>C (p.Arg1475=) c.7651A>C (p.Arg2551=) | |
8 | g.99819581A>G | CA371776754 | VPS13B | c.8866A>G (p.Arg2956Gly) n.8936A>G c.*4548A>G (n.*4548A>G) c.8791A>G (p.Arg2931Gly) c.8863A>G (p.Arg2955Gly) c.8788A>G (p.Arg2930Gly) c.8488A>G (p.Arg2830Gly) c.5752A>G (p.Arg1918Gly) c.4645A>G (p.Arg1549Gly) c.8671A>G (p.Arg2891Gly) c.4423A>G (p.Arg1475Gly) c.7651A>G (p.Arg2551Gly) | gnomAD v4 |
8 | g.99819581A>T | CA371776756 | VPS13B | c.8866A>T (p.Arg2956Trp) n.8936A>T c.*4548A>T (n.*4548A>T) c.8791A>T (p.Arg2931Trp) c.8863A>T (p.Arg2955Trp) c.8788A>T (p.Arg2930Trp) c.8488A>T (p.Arg2830Trp) c.5752A>T (p.Arg1918Trp) c.4645A>T (p.Arg1549Trp) c.8671A>T (p.Arg2891Trp) c.4423A>T (p.Arg1475Trp) c.7651A>T (p.Arg2551Trp) | |
8 | g.99819581_99819582del | CA2718038867 | VPS13B | c.8866_8867del (p.Arg2956GlufsTer2) n.8936_8937del c.*4548_*4549del (n.*4548_*4549del) c.8791_8792del (p.Arg2931GlufsTer2) c.8863_8864del (p.Arg2955GlufsTer2) c.8788_8789del (p.Arg2930GlufsTer2) c.8488_8489del (p.Arg2830GlufsTer2) c.5752_5753del (p.Arg1918GlufsTer2) c.4645_4646del (p.Arg1549GlufsTer2) c.8671_8672del (p.Arg2891GlufsTer2) c.4423_4424del (p.Arg1475GlufsTer2) c.7651_7652del (p.Arg2551GlufsTer2) | dbSNP |
8 | g.99819582G>A | CA371776760 | VPS13B | c.8867G>A (p.Arg2956Lys) n.8937G>A c.*4549G>A (n.*4549G>A) c.8792G>A (p.Arg2931Lys) c.8864G>A (p.Arg2955Lys) c.8789G>A (p.Arg2930Lys) c.8489G>A (p.Arg2830Lys) c.5753G>A (p.Arg1918Lys) c.4646G>A (p.Arg1549Lys) c.8672G>A (p.Arg2891Lys) c.4424G>A (p.Arg1475Lys) c.7652G>A (p.Arg2551Lys) | |
8 | g.99819582G>C | CA371776763 | VPS13B | c.8867G>C (p.Arg2956Thr) n.8937G>C c.*4549G>C (n.*4549G>C) c.8792G>C (p.Arg2931Thr) c.8864G>C (p.Arg2955Thr) c.8789G>C (p.Arg2930Thr) c.8489G>C (p.Arg2830Thr) c.5753G>C (p.Arg1918Thr) c.4646G>C (p.Arg1549Thr) c.8672G>C (p.Arg2891Thr) c.4424G>C (p.Arg1475Thr) c.7652G>C (p.Arg2551Thr) | |
8 | g.99819582G>T | CA371776764 | VPS13B | c.8867G>T (p.Arg2956Met) n.8937G>T c.*4549G>T (n.*4549G>T) c.8792G>T (p.Arg2931Met) c.8864G>T (p.Arg2955Met) c.8789G>T (p.Arg2930Met) c.8489G>T (p.Arg2830Met) c.5753G>T (p.Arg1918Met) c.4646G>T (p.Arg1549Met) c.8672G>T (p.Arg2891Met) c.4424G>T (p.Arg1475Met) c.7652G>T (p.Arg2551Met) | |
8 | g.99819583G>A | CA371776768 | VPS13B | c.8867+1G>A (n.8867+1G>A) n.8937+1G>A c.*4549+1G>A (n.*4549+1G>A) c.8792+1G>A (n.8792+1G>A) c.8864+1G>A (n.8864+1G>A) c.8789+1G>A (n.8789+1G>A) c.8489+1G>A (n.8489+1G>A) c.5753+1G>A (n.5753+1G>A) c.4646+1G>A (n.4646+1G>A) c.8672+1G>A (n.8672+1G>A) c.4424+1G>A (n.4424+1G>A) c.7652+1G>A (n.7652+1G>A) | |
8 | g.99819583G>C | CA371776771 | VPS13B | c.8867+1G>C (n.8867+1G>C) n.8937+1G>C c.*4549+1G>C (n.*4549+1G>C) c.8792+1G>C (n.8792+1G>C) c.8864+1G>C (n.8864+1G>C) c.8789+1G>C (n.8789+1G>C) c.8489+1G>C (n.8489+1G>C) c.5753+1G>C (n.5753+1G>C) c.4646+1G>C (n.4646+1G>C) c.8672+1G>C (n.8672+1G>C) c.4424+1G>C (n.4424+1G>C) c.7652+1G>C (n.7652+1G>C) | |
8 | g.99819583G>T | CA371776773 | VPS13B | c.8867+1G>T (n.8867+1G>T) n.8937+1G>T c.*4549+1G>T (n.*4549+1G>T) c.8792+1G>T (n.8792+1G>T) c.8864+1G>T (n.8864+1G>T) c.8789+1G>T (n.8789+1G>T) c.8489+1G>T (n.8489+1G>T) c.5753+1G>T (n.5753+1G>T) c.4646+1G>T (n.4646+1G>T) c.8672+1G>T (n.8672+1G>T) c.4424+1G>T (n.4424+1G>T) c.7652+1G>T (n.7652+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819583_99819587del | CA2781476119 | VPS13B | c.8867+1_8867+5del (n.8867+1_8867+5del) n.8937+1_8937+5del c.*4549+1_*4549+5del (n.*4549+1_*4549+5del) c.8792+1_8792+5del (n.8792+1_8792+5del) c.8864+1_8864+5del (n.8864+1_8864+5del) c.8789+1_8789+5del (n.8789+1_8789+5del) c.8489+1_8489+5del (n.8489+1_8489+5del) c.5753+1_5753+5del (n.5753+1_5753+5del) c.4646+1_4646+5del (n.4646+1_4646+5del) c.8672+1_8672+5del (n.8672+1_8672+5del) c.4424+1_4424+5del (n.4424+1_4424+5del) c.7652+1_7652+5del (n.7652+1_7652+5del) | |
8 | g.99819584T>A | CA371776775 | VPS13B | c.8867+2T>A (n.8867+2T>A) n.8937+2T>A c.*4549+2T>A (n.*4549+2T>A) c.8792+2T>A (n.8792+2T>A) c.8864+2T>A (n.8864+2T>A) c.8789+2T>A (n.8789+2T>A) c.8489+2T>A (n.8489+2T>A) c.5753+2T>A (n.5753+2T>A) c.4646+2T>A (n.4646+2T>A) c.8672+2T>A (n.8672+2T>A) c.4424+2T>A (n.4424+2T>A) c.7652+2T>A (n.7652+2T>A) | |
8 | g.99819584T>C | CA371776776 | VPS13B | c.8867+2T>C (n.8867+2T>C) n.8937+2T>C c.*4549+2T>C (n.*4549+2T>C) c.8792+2T>C (n.8792+2T>C) c.8864+2T>C (n.8864+2T>C) c.8789+2T>C (n.8789+2T>C) c.8489+2T>C (n.8489+2T>C) c.5753+2T>C (n.5753+2T>C) c.4646+2T>C (n.4646+2T>C) c.8672+2T>C (n.8672+2T>C) c.4424+2T>C (n.4424+2T>C) c.7652+2T>C (n.7652+2T>C) | |
8 | g.99819584T>G | CA371776777 | VPS13B | c.8867+2T>G (n.8867+2T>G) n.8937+2T>G c.*4549+2T>G (n.*4549+2T>G) c.8792+2T>G (n.8792+2T>G) c.8864+2T>G (n.8864+2T>G) c.8789+2T>G (n.8789+2T>G) c.8489+2T>G (n.8489+2T>G) c.5753+2T>G (n.5753+2T>G) c.4646+2T>G (n.4646+2T>G) c.8672+2T>G (n.8672+2T>G) c.4424+2T>G (n.4424+2T>G) c.7652+2T>G (n.7652+2T>G) | |
8 | g.99819584_99819585del | CA2781476120 | VPS13B | c.8867+2_8867+3del (n.8867+2_8867+3del) n.8937+2_8937+3del c.*4549+2_*4549+3del (n.*4549+2_*4549+3del) c.8792+2_8792+3del (n.8792+2_8792+3del) c.8864+2_8864+3del (n.8864+2_8864+3del) c.8789+2_8789+3del (n.8789+2_8789+3del) c.8489+2_8489+3del (n.8489+2_8489+3del) c.5753+2_5753+3del (n.5753+2_5753+3del) c.4646+2_4646+3del (n.4646+2_4646+3del) c.8672+2_8672+3del (n.8672+2_8672+3del) c.4424+2_4424+3del (n.4424+2_4424+3del) c.7652+2_7652+3del (n.7652+2_7652+3del) | |
8 | g.99819585A>G | CA2688070124 | VPS13B | c.8867+3A>G (n.8867+3A>G) n.8937+3A>G c.*4549+3A>G (n.*4549+3A>G) c.8792+3A>G (n.8792+3A>G) c.8864+3A>G (n.8864+3A>G) c.8789+3A>G (n.8789+3A>G) c.8489+3A>G (n.8489+3A>G) c.5753+3A>G (n.5753+3A>G) c.4646+3A>G (n.4646+3A>G) c.8672+3A>G (n.8672+3A>G) c.4424+3A>G (n.4424+3A>G) c.7652+3A>G (n.7652+3A>G) | gnomAD v4 |
8 | g.99819586A>G | CA1117127111 | VPS13B | c.8867+4A>G (n.8867+4A>G) n.8937+4A>G c.*4549+4A>G (n.*4549+4A>G) c.8792+4A>G (n.8792+4A>G) c.8864+4A>G (n.8864+4A>G) c.8789+4A>G (n.8789+4A>G) c.8489+4A>G (n.8489+4A>G) c.5753+4A>G (n.5753+4A>G) c.4646+4A>G (n.4646+4A>G) c.8672+4A>G (n.8672+4A>G) c.4424+4A>G (n.4424+4A>G) c.7652+4A>G (n.7652+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819589T>C | CA4824544 | VPS13B | c.8867+7T>C (n.8867+7T>C) n.8937+7T>C c.*4549+7T>C (n.*4549+7T>C) c.8792+7T>C (n.8792+7T>C) c.8864+7T>C (n.8864+7T>C) c.8789+7T>C (n.8789+7T>C) c.8489+7T>C (n.8489+7T>C) c.5753+7T>C (n.5753+7T>C) c.4646+7T>C (n.4646+7T>C) c.8672+7T>C (n.8672+7T>C) c.4424+7T>C (n.4424+7T>C) c.7652+7T>C (n.7652+7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819589T>G | CA2781476121 | VPS13B | c.8867+7T>G (n.8867+7T>G) n.8937+7T>G c.*4549+7T>G (n.*4549+7T>G) c.8792+7T>G (n.8792+7T>G) c.8864+7T>G (n.8864+7T>G) c.8789+7T>G (n.8789+7T>G) c.8489+7T>G (n.8489+7T>G) c.5753+7T>G (n.5753+7T>G) c.4646+7T>G (n.4646+7T>G) c.8672+7T>G (n.8672+7T>G) c.4424+7T>G (n.4424+7T>G) c.7652+7T>G (n.7652+7T>G) | |
8 | g.99819592_99819594del | CA2781476122 | VPS13B | c.8867+10_8867+12del (n.8867+10_8867+12del) n.8937+10_8937+12del c.*4549+10_*4549+12del (n.*4549+10_*4549+12del) c.8792+10_8792+12del (n.8792+10_8792+12del) c.8864+10_8864+12del (n.8864+10_8864+12del) c.8789+10_8789+12del (n.8789+10_8789+12del) c.8489+10_8489+12del (n.8489+10_8489+12del) c.5753+10_5753+12del (n.5753+10_5753+12del) c.4646+10_4646+12del (n.4646+10_4646+12del) c.8672+10_8672+12del (n.8672+10_8672+12del) c.4424+10_4424+12del (n.4424+10_4424+12del) c.7652+10_7652+12del (n.7652+10_7652+12del) | |
8 | g.99819593T>A | CA4824545 | VPS13B | c.8867+11T>A (n.8867+11T>A) n.8937+11T>A c.*4549+11T>A (n.*4549+11T>A) c.8792+11T>A (n.8792+11T>A) c.8864+11T>A (n.8864+11T>A) c.8789+11T>A (n.8789+11T>A) c.8489+11T>A (n.8489+11T>A) c.5753+11T>A (n.5753+11T>A) c.4646+11T>A (n.4646+11T>A) c.8672+11T>A (n.8672+11T>A) c.4424+11T>A (n.4424+11T>A) c.7652+11T>A (n.7652+11T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819593T>C | CA2739265797 | VPS13B | c.8867+11T>C (n.8867+11T>C) n.8937+11T>C c.*4549+11T>C (n.*4549+11T>C) c.8792+11T>C (n.8792+11T>C) c.8864+11T>C (n.8864+11T>C) c.8789+11T>C (n.8789+11T>C) c.8489+11T>C (n.8489+11T>C) c.5753+11T>C (n.5753+11T>C) c.4646+11T>C (n.4646+11T>C) c.8672+11T>C (n.8672+11T>C) c.4424+11T>C (n.4424+11T>C) c.7652+11T>C (n.7652+11T>C) | ClinVar |
8 | g.99819594_99819595insTCT | CA4824546 | VPS13B | c.8867+12_8867+13insTCT (n.8867+12_8867+13insTCT) n.8937+12_8937+13insTCT c.*4549+12_*4549+13insTCT (n.*4549+12_*4549+13insTCT) c.8792+12_8792+13insTCT (n.8792+12_8792+13insTCT) c.8864+12_8864+13insTCT (n.8864+12_8864+13insTCT) c.8789+12_8789+13insTCT (n.8789+12_8789+13insTCT) c.8489+12_8489+13insTCT (n.8489+12_8489+13insTCT) c.5753+12_5753+13insTCT (n.5753+12_5753+13insTCT) c.4646+12_4646+13insTCT (n.4646+12_4646+13insTCT) c.8672+12_8672+13insTCT (n.8672+12_8672+13insTCT) c.4424+12_4424+13insTCT (n.4424+12_4424+13insTCT) c.7652+12_7652+13insTCT (n.7652+12_7652+13insTCT) | dbSNP ExAC gnomAD v2 |
8 | g.99819595_99819605del | CA4824547 | VPS13B | c.8867+13_8867+23del (n.8867+13_8867+23del) n.8937+13_8937+23del c.*4549+13_*4549+23del (n.*4549+13_*4549+23del) c.8792+13_8792+23del (n.8792+13_8792+23del) c.8864+13_8864+23del (n.8864+13_8864+23del) c.8789+13_8789+23del (n.8789+13_8789+23del) c.8489+13_8489+23del (n.8489+13_8489+23del) c.5753+13_5753+23del (n.5753+13_5753+23del) c.4646+13_4646+23del (n.4646+13_4646+23del) c.8672+13_8672+23del (n.8672+13_8672+23del) c.4424+13_4424+23del (n.4424+13_4424+23del) c.7652+13_7652+23del (n.7652+13_7652+23del) | dbSNP ExAC gnomAD v2 |
8 | g.99819596G>C | CA4824549 | VPS13B | c.8867+14G>C (n.8867+14G>C) n.8937+14G>C c.*4549+14G>C (n.*4549+14G>C) c.8792+14G>C (n.8792+14G>C) c.8864+14G>C (n.8864+14G>C) c.8789+14G>C (n.8789+14G>C) c.8489+14G>C (n.8489+14G>C) c.5753+14G>C (n.5753+14G>C) c.4646+14G>C (n.4646+14G>C) c.8672+14G>C (n.8672+14G>C) c.4424+14G>C (n.4424+14G>C) c.7652+14G>C (n.7652+14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819596_99819597insGAAAT | CA4824548 | VPS13B | c.8867+14_8867+15insGAAAT (n.8867+14_8867+15insGAAAT) n.8937+14_8937+15insGAAAT c.*4549+14_*4549+15insGAAAT (n.*4549+14_*4549+15insGAAAT) c.8792+14_8792+15insGAAAT (n.8792+14_8792+15insGAAAT) c.8864+14_8864+15insGAAAT (n.8864+14_8864+15insGAAAT) c.8789+14_8789+15insGAAAT (n.8789+14_8789+15insGAAAT) c.8489+14_8489+15insGAAAT (n.8489+14_8489+15insGAAAT) c.5753+14_5753+15insGAAAT (n.5753+14_5753+15insGAAAT) c.4646+14_4646+15insGAAAT (n.4646+14_4646+15insGAAAT) c.8672+14_8672+15insGAAAT (n.8672+14_8672+15insGAAAT) c.4424+14_4424+15insGAAAT (n.4424+14_4424+15insGAAAT) c.7652+14_7652+15insGAAAT (n.7652+14_7652+15insGAAAT) | dbSNP ExAC gnomAD v2 |
8 | g.99819597T>C | CA2740095119 | VPS13B | c.8867+15T>C (n.8867+15T>C) n.8937+15T>C c.*4549+15T>C (n.*4549+15T>C) c.8792+15T>C (n.8792+15T>C) c.8864+15T>C (n.8864+15T>C) c.8789+15T>C (n.8789+15T>C) c.8489+15T>C (n.8489+15T>C) c.5753+15T>C (n.5753+15T>C) c.4646+15T>C (n.4646+15T>C) c.8672+15T>C (n.8672+15T>C) c.4424+15T>C (n.4424+15T>C) c.7652+15T>C (n.7652+15T>C) | ClinVar |
8 | g.99819597_99819598insACG | CA2781476123 | VPS13B | c.8867+15_8867+16insACG (n.8867+15_8867+16insACG) n.8937+15_8937+16insACG c.*4549+15_*4549+16insACG (n.*4549+15_*4549+16insACG) c.8792+15_8792+16insACG (n.8792+15_8792+16insACG) c.8864+15_8864+16insACG (n.8864+15_8864+16insACG) c.8789+15_8789+16insACG (n.8789+15_8789+16insACG) c.8489+15_8489+16insACG (n.8489+15_8489+16insACG) c.5753+15_5753+16insACG (n.5753+15_5753+16insACG) c.4646+15_4646+16insACG (n.4646+15_4646+16insACG) c.8672+15_8672+16insACG (n.8672+15_8672+16insACG) c.4424+15_4424+16insACG (n.4424+15_4424+16insACG) c.7652+15_7652+16insACG (n.7652+15_7652+16insACG) | |
8 | g.99819598G>A | CA2688070125 | VPS13B | c.8867+16G>A (n.8867+16G>A) n.8937+16G>A c.*4549+16G>A (n.*4549+16G>A) c.8792+16G>A (n.8792+16G>A) c.8864+16G>A (n.8864+16G>A) c.8789+16G>A (n.8789+16G>A) c.8489+16G>A (n.8489+16G>A) c.5753+16G>A (n.5753+16G>A) c.4646+16G>A (n.4646+16G>A) c.8672+16G>A (n.8672+16G>A) c.4424+16G>A (n.4424+16G>A) c.7652+16G>A (n.7652+16G>A) | gnomAD v4 |
8 | g.99819599A>G | CA2739265798 | VPS13B | c.8867+17A>G (n.8867+17A>G) n.8937+17A>G c.*4549+17A>G (n.*4549+17A>G) c.8792+17A>G (n.8792+17A>G) c.8864+17A>G (n.8864+17A>G) c.8789+17A>G (n.8789+17A>G) c.8489+17A>G (n.8489+17A>G) c.5753+17A>G (n.5753+17A>G) c.4646+17A>G (n.4646+17A>G) c.8672+17A>G (n.8672+17A>G) c.4424+17A>G (n.4424+17A>G) c.7652+17A>G (n.7652+17A>G) | ClinVar |
8 | g.99819601_99819605del | CA2781476124 | VPS13B | c.8867+19_8867+23del (n.8867+19_8867+23del) n.8937+19_8937+23del c.*4549+19_*4549+23del (n.*4549+19_*4549+23del) c.8792+19_8792+23del (n.8792+19_8792+23del) c.8864+19_8864+23del (n.8864+19_8864+23del) c.8789+19_8789+23del (n.8789+19_8789+23del) c.8489+19_8489+23del (n.8489+19_8489+23del) c.5753+19_5753+23del (n.5753+19_5753+23del) c.4646+19_4646+23del (n.4646+19_4646+23del) c.8672+19_8672+23del (n.8672+19_8672+23del) c.4424+19_4424+23del (n.4424+19_4424+23del) c.7652+19_7652+23del (n.7652+19_7652+23del) | |
8 | g.99819600_99819601insA | CA2781476125 | VPS13B | c.8867+18_8867+19insA (n.8867+18_8867+19insA) n.8937+18_8937+19insA c.*4549+18_*4549+19insA (n.*4549+18_*4549+19insA) c.8792+18_8792+19insA (n.8792+18_8792+19insA) c.8864+18_8864+19insA (n.8864+18_8864+19insA) c.8789+18_8789+19insA (n.8789+18_8789+19insA) c.8489+18_8489+19insA (n.8489+18_8489+19insA) c.5753+18_5753+19insA (n.5753+18_5753+19insA) c.4646+18_4646+19insA (n.4646+18_4646+19insA) c.8672+18_8672+19insA (n.8672+18_8672+19insA) c.4424+18_4424+19insA (n.4424+18_4424+19insA) c.7652+18_7652+19insA (n.7652+18_7652+19insA) | |
8 | g.99819601C>G | CA2573143489 | VPS13B | c.8867+19C>G (n.8867+19C>G) n.8937+19C>G c.*4549+19C>G (n.*4549+19C>G) c.8792+19C>G (n.8792+19C>G) c.8864+19C>G (n.8864+19C>G) c.8789+19C>G (n.8789+19C>G) c.8489+19C>G (n.8489+19C>G) c.5753+19C>G (n.5753+19C>G) c.4646+19C>G (n.4646+19C>G) c.8672+19C>G (n.8672+19C>G) c.4424+19C>G (n.4424+19C>G) c.7652+19C>G (n.7652+19C>G) | ClinVar dbSNP |
8 | g.99819602T>C | CA2688070126 | VPS13B | c.8867+20T>C (n.8867+20T>C) n.8937+20T>C c.*4549+20T>C (n.*4549+20T>C) c.8792+20T>C (n.8792+20T>C) c.8864+20T>C (n.8864+20T>C) c.8789+20T>C (n.8789+20T>C) c.8489+20T>C (n.8489+20T>C) c.5753+20T>C (n.5753+20T>C) c.4646+20T>C (n.4646+20T>C) c.8672+20T>C (n.8672+20T>C) c.4424+20T>C (n.4424+20T>C) c.7652+20T>C (n.7652+20T>C) | gnomAD v4 |
8 | g.99819602T>G | CA2688070127 | VPS13B | c.8867+20T>G (n.8867+20T>G) n.8937+20T>G c.*4549+20T>G (n.*4549+20T>G) c.8792+20T>G (n.8792+20T>G) c.8864+20T>G (n.8864+20T>G) c.8789+20T>G (n.8789+20T>G) c.8489+20T>G (n.8489+20T>G) c.5753+20T>G (n.5753+20T>G) c.4646+20T>G (n.4646+20T>G) c.8672+20T>G (n.8672+20T>G) c.4424+20T>G (n.4424+20T>G) c.7652+20T>G (n.7652+20T>G) | gnomAD v4 |
8 | g.99819606dup | CA583884704 | VPS13B | c.8867+24dup (n.8867+24dup) n.8937+24dup c.*4549+24dup (n.*4549+24dup) c.8792+24dup (n.8792+24dup) c.8864+24dup (n.8864+24dup) c.8789+24dup (n.8789+24dup) c.8489+24dup (n.8489+24dup) c.5753+24dup (n.5753+24dup) c.4646+24dup (n.4646+24dup) c.8672+24dup (n.8672+24dup) c.4424+24dup (n.4424+24dup) c.7652+24dup (n.7652+24dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819603T>C | CA4824550 | VPS13B | c.8867+21T>C (n.8867+21T>C) n.8937+21T>C c.*4549+21T>C (n.*4549+21T>C) c.8792+21T>C (n.8792+21T>C) c.8864+21T>C (n.8864+21T>C) c.8789+21T>C (n.8789+21T>C) c.8489+21T>C (n.8489+21T>C) c.5753+21T>C (n.5753+21T>C) c.4646+21T>C (n.4646+21T>C) c.8672+21T>C (n.8672+21T>C) c.4424+21T>C (n.4424+21T>C) c.7652+21T>C (n.7652+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819603_99819604insAC | CA2781476126 | VPS13B | c.8867+21_8867+22insAC (n.8867+21_8867+22insAC) n.8937+21_8937+22insAC c.*4549+21_*4549+22insAC (n.*4549+21_*4549+22insAC) c.8792+21_8792+22insAC (n.8792+21_8792+22insAC) c.8864+21_8864+22insAC (n.8864+21_8864+22insAC) c.8789+21_8789+22insAC (n.8789+21_8789+22insAC) c.8489+21_8489+22insAC (n.8489+21_8489+22insAC) c.5753+21_5753+22insAC (n.5753+21_5753+22insAC) c.4646+21_4646+22insAC (n.4646+21_4646+22insAC) c.8672+21_8672+22insAC (n.8672+21_8672+22insAC) c.4424+21_4424+22insAC (n.4424+21_4424+22insAC) c.7652+21_7652+22insAC (n.7652+21_7652+22insAC) | |
8 | g.99819604T>G | CA462339540 | VPS13B | c.8867+22T>G (n.8867+22T>G) n.8937+22T>G c.*4549+22T>G (n.*4549+22T>G) c.8792+22T>G (n.8792+22T>G) c.8864+22T>G (n.8864+22T>G) c.8789+22T>G (n.8789+22T>G) c.8489+22T>G (n.8489+22T>G) c.5753+22T>G (n.5753+22T>G) c.4646+22T>G (n.4646+22T>G) c.8672+22T>G (n.8672+22T>G) c.4424+22T>G (n.4424+22T>G) c.7652+22T>G (n.7652+22T>G) | dbSNP |
8 | g.99819605_99819608del | CA2781476127 | VPS13B | c.8867+23_8867+26del (n.8867+23_8867+26del) n.8937+23_8937+26del c.*4549+23_*4549+26del (n.*4549+23_*4549+26del) c.8792+23_8792+26del (n.8792+23_8792+26del) c.8864+23_8864+26del (n.8864+23_8864+26del) c.8789+23_8789+26del (n.8789+23_8789+26del) c.8489+23_8489+26del (n.8489+23_8489+26del) c.5753+23_5753+26del (n.5753+23_5753+26del) c.4646+23_4646+26del (n.4646+23_4646+26del) c.8672+23_8672+26del (n.8672+23_8672+26del) c.4424+23_4424+26del (n.4424+23_4424+26del) c.7652+23_7652+26del (n.7652+23_7652+26del) | |
8 | g.99819605T>C | CA2688070128 | VPS13B | c.8867+23T>C (n.8867+23T>C) n.8937+23T>C c.*4549+23T>C (n.*4549+23T>C) c.8792+23T>C (n.8792+23T>C) c.8864+23T>C (n.8864+23T>C) c.8789+23T>C (n.8789+23T>C) c.8489+23T>C (n.8489+23T>C) c.5753+23T>C (n.5753+23T>C) c.4646+23T>C (n.4646+23T>C) c.8672+23T>C (n.8672+23T>C) c.4424+23T>C (n.4424+23T>C) c.7652+23T>C (n.7652+23T>C) | gnomAD v4 |
8 | g.99819606T>A | CA2781476128 | VPS13B | c.8867+24T>A (n.8867+24T>A) n.8937+24T>A c.*4549+24T>A (n.*4549+24T>A) c.8792+24T>A (n.8792+24T>A) c.8864+24T>A (n.8864+24T>A) c.8789+24T>A (n.8789+24T>A) c.8489+24T>A (n.8489+24T>A) c.5753+24T>A (n.5753+24T>A) c.4646+24T>A (n.4646+24T>A) c.8672+24T>A (n.8672+24T>A) c.4424+24T>A (n.4424+24T>A) c.7652+24T>A (n.7652+24T>A) | |
8 | g.99819606T>C | CA857600393 | VPS13B | c.8867+24T>C (n.8867+24T>C) n.8937+24T>C c.*4549+24T>C (n.*4549+24T>C) c.8792+24T>C (n.8792+24T>C) c.8864+24T>C (n.8864+24T>C) c.8789+24T>C (n.8789+24T>C) c.8489+24T>C (n.8489+24T>C) c.5753+24T>C (n.5753+24T>C) c.4646+24T>C (n.4646+24T>C) c.8672+24T>C (n.8672+24T>C) c.4424+24T>C (n.4424+24T>C) c.7652+24T>C (n.7652+24T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819606_99819607insACC | CA2781476129 | VPS13B | c.8867+24_8867+25insACC (n.8867+24_8867+25insACC) n.8937+24_8937+25insACC c.*4549+24_*4549+25insACC (n.*4549+24_*4549+25insACC) c.8792+24_8792+25insACC (n.8792+24_8792+25insACC) c.8864+24_8864+25insACC (n.8864+24_8864+25insACC) c.8789+24_8789+25insACC (n.8789+24_8789+25insACC) c.8489+24_8489+25insACC (n.8489+24_8489+25insACC) c.5753+24_5753+25insACC (n.5753+24_5753+25insACC) c.4646+24_4646+25insACC (n.4646+24_4646+25insACC) c.8672+24_8672+25insACC (n.8672+24_8672+25insACC) c.4424+24_4424+25insACC (n.4424+24_4424+25insACC) c.7652+24_7652+25insACC (n.7652+24_7652+25insACC) | |
8 | g.99819607C>A | CA2688070129 | VPS13B | c.8867+25C>A (n.8867+25C>A) n.8937+25C>A c.*4549+25C>A (n.*4549+25C>A) c.8792+25C>A (n.8792+25C>A) c.8864+25C>A (n.8864+25C>A) c.8789+25C>A (n.8789+25C>A) c.8489+25C>A (n.8489+25C>A) c.5753+25C>A (n.5753+25C>A) c.4646+25C>A (n.4646+25C>A) c.8672+25C>A (n.8672+25C>A) c.4424+25C>A (n.4424+25C>A) c.7652+25C>A (n.7652+25C>A) | gnomAD v4 |
8 | g.99819607_99819608insAGA | CA2781476130 | VPS13B | c.8867+25_8867+26insAGA (n.8867+25_8867+26insAGA) n.8937+25_8937+26insAGA c.*4549+25_*4549+26insAGA (n.*4549+25_*4549+26insAGA) c.8792+25_8792+26insAGA (n.8792+25_8792+26insAGA) c.8864+25_8864+26insAGA (n.8864+25_8864+26insAGA) c.8789+25_8789+26insAGA (n.8789+25_8789+26insAGA) c.8489+25_8489+26insAGA (n.8489+25_8489+26insAGA) c.5753+25_5753+26insAGA (n.5753+25_5753+26insAGA) c.4646+25_4646+26insAGA (n.4646+25_4646+26insAGA) c.8672+25_8672+26insAGA (n.8672+25_8672+26insAGA) c.4424+25_4424+26insAGA (n.4424+25_4424+26insAGA) c.7652+25_7652+26insAGA (n.7652+25_7652+26insAGA) | |
8 | g.99819609A>G | CA857600399 | VPS13B | c.8867+27A>G (n.8867+27A>G) n.8937+27A>G c.*4549+27A>G (n.*4549+27A>G) c.8792+27A>G (n.8792+27A>G) c.8864+27A>G (n.8864+27A>G) c.8789+27A>G (n.8789+27A>G) c.8489+27A>G (n.8489+27A>G) c.5753+27A>G (n.5753+27A>G) c.4646+27A>G (n.4646+27A>G) c.8672+27A>G (n.8672+27A>G) c.4424+27A>G (n.4424+27A>G) c.7652+27A>G (n.7652+27A>G) | dbSNP |
8 | g.99819610C>G | CA4824551 | VPS13B | c.8867+28C>G (n.8867+28C>G) n.8937+28C>G c.*4549+28C>G (n.*4549+28C>G) c.8792+28C>G (n.8792+28C>G) c.8864+28C>G (n.8864+28C>G) c.8789+28C>G (n.8789+28C>G) c.8489+28C>G (n.8489+28C>G) c.5753+28C>G (n.5753+28C>G) c.4646+28C>G (n.4646+28C>G) c.8672+28C>G (n.8672+28C>G) c.4424+28C>G (n.4424+28C>G) c.7652+28C>G (n.7652+28C>G) | dbSNP ExAC gnomAD v2 |
8 | g.99819611A>G | CA4824552 | VPS13B | c.8867+29A>G (n.8867+29A>G) n.8937+29A>G c.*4549+29A>G (n.*4549+29A>G) c.8792+29A>G (n.8792+29A>G) c.8864+29A>G (n.8864+29A>G) c.8789+29A>G (n.8789+29A>G) c.8489+29A>G (n.8489+29A>G) c.5753+29A>G (n.5753+29A>G) c.4646+29A>G (n.4646+29A>G) c.8672+29A>G (n.8672+29A>G) c.4424+29A>G (n.4424+29A>G) c.7652+29A>G (n.7652+29A>G) | dbSNP ExAC gnomAD v2 |
8 | g.99819615dup | CA2688070130 | VPS13B | c.8867+33dup (n.8867+33dup) n.8937+33dup c.*4549+33dup (n.*4549+33dup) c.8792+33dup (n.8792+33dup) c.8864+33dup (n.8864+33dup) c.8789+33dup (n.8789+33dup) c.8489+33dup (n.8489+33dup) c.5753+33dup (n.5753+33dup) c.4646+33dup (n.4646+33dup) c.8672+33dup (n.8672+33dup) c.4424+33dup (n.4424+33dup) c.7652+33dup (n.7652+33dup) | gnomAD v4 |
8 | g.99819612A>G | CA4824553 | VPS13B | c.8867+30A>G (n.8867+30A>G) n.8937+30A>G c.*4549+30A>G (n.*4549+30A>G) c.8792+30A>G (n.8792+30A>G) c.8864+30A>G (n.8864+30A>G) c.8789+30A>G (n.8789+30A>G) c.8489+30A>G (n.8489+30A>G) c.5753+30A>G (n.5753+30A>G) c.4646+30A>G (n.4646+30A>G) c.8672+30A>G (n.8672+30A>G) c.4424+30A>G (n.4424+30A>G) c.7652+30A>G (n.7652+30A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819612A>T | CA2781476131 | VPS13B | c.8867+30A>T (n.8867+30A>T) n.8937+30A>T c.*4549+30A>T (n.*4549+30A>T) c.8792+30A>T (n.8792+30A>T) c.8864+30A>T (n.8864+30A>T) c.8789+30A>T (n.8789+30A>T) c.8489+30A>T (n.8489+30A>T) c.5753+30A>T (n.5753+30A>T) c.4646+30A>T (n.4646+30A>T) c.8672+30A>T (n.8672+30A>T) c.4424+30A>T (n.4424+30A>T) c.7652+30A>T (n.7652+30A>T) | |
8 | g.99819615A>G | CA2579216300 | VPS13B | c.8867+33A>G (n.8867+33A>G) n.8937+33A>G c.*4549+33A>G (n.*4549+33A>G) c.8792+33A>G (n.8792+33A>G) c.8864+33A>G (n.8864+33A>G) c.8789+33A>G (n.8789+33A>G) c.8489+33A>G (n.8489+33A>G) c.5753+33A>G (n.5753+33A>G) c.4646+33A>G (n.4646+33A>G) c.8672+33A>G (n.8672+33A>G) c.4424+33A>G (n.4424+33A>G) c.7652+33A>G (n.7652+33A>G) | gnomAD v4 |
8 | g.99819619C>A | CA583884705 | VPS13B | c.8867+37C>A (n.8867+37C>A) n.8937+37C>A c.*4549+37C>A (n.*4549+37C>A) c.8792+37C>A (n.8792+37C>A) c.8864+37C>A (n.8864+37C>A) c.8789+37C>A (n.8789+37C>A) c.8489+37C>A (n.8489+37C>A) c.5753+37C>A (n.5753+37C>A) c.4646+37C>A (n.4646+37C>A) c.8672+37C>A (n.8672+37C>A) c.4424+37C>A (n.4424+37C>A) c.7652+37C>A (n.7652+37C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819619C>G | CA2717760756 | VPS13B | c.8867+37C>G (n.8867+37C>G) n.8937+37C>G c.*4549+37C>G (n.*4549+37C>G) c.8792+37C>G (n.8792+37C>G) c.8864+37C>G (n.8864+37C>G) c.8789+37C>G (n.8789+37C>G) c.8489+37C>G (n.8489+37C>G) c.5753+37C>G (n.5753+37C>G) c.4646+37C>G (n.4646+37C>G) c.8672+37C>G (n.8672+37C>G) c.4424+37C>G (n.4424+37C>G) c.7652+37C>G (n.7652+37C>G) | dbSNP |
8 | g.99819621C>A | CA2688070133 | VPS13B | c.8867+39C>A (n.8867+39C>A) n.8937+39C>A c.*4549+39C>A (n.*4549+39C>A) c.8792+39C>A (n.8792+39C>A) c.8864+39C>A (n.8864+39C>A) c.8789+39C>A (n.8789+39C>A) c.8489+39C>A (n.8489+39C>A) c.5753+39C>A (n.5753+39C>A) c.4646+39C>A (n.4646+39C>A) c.8672+39C>A (n.8672+39C>A) c.4424+39C>A (n.4424+39C>A) c.7652+39C>A (n.7652+39C>A) | gnomAD v4 |
8 | g.99819621C>T | CA2688070134 | VPS13B | c.8867+39C>T (n.8867+39C>T) n.8937+39C>T c.*4549+39C>T (n.*4549+39C>T) c.8792+39C>T (n.8792+39C>T) c.8864+39C>T (n.8864+39C>T) c.8789+39C>T (n.8789+39C>T) c.8489+39C>T (n.8489+39C>T) c.5753+39C>T (n.5753+39C>T) c.4646+39C>T (n.4646+39C>T) c.8672+39C>T (n.8672+39C>T) c.4424+39C>T (n.4424+39C>T) c.7652+39C>T (n.7652+39C>T) | gnomAD v4 |
8 | g.99819622_99819623insGTC | CA2781476132 | VPS13B | c.8867+40_8867+41insGTC (n.8867+40_8867+41insGTC) n.8937+40_8937+41insGTC c.*4549+40_*4549+41insGTC (n.*4549+40_*4549+41insGTC) c.8792+40_8792+41insGTC (n.8792+40_8792+41insGTC) c.8864+40_8864+41insGTC (n.8864+40_8864+41insGTC) c.8789+40_8789+41insGTC (n.8789+40_8789+41insGTC) c.8489+40_8489+41insGTC (n.8489+40_8489+41insGTC) c.5753+40_5753+41insGTC (n.5753+40_5753+41insGTC) c.4646+40_4646+41insGTC (n.4646+40_4646+41insGTC) c.8672+40_8672+41insGTC (n.8672+40_8672+41insGTC) c.4424+40_4424+41insGTC (n.4424+40_4424+41insGTC) c.7652+40_7652+41insGTC (n.7652+40_7652+41insGTC) | |
8 | g.99819623A>G | CA583884706 | VPS13B | c.8867+41A>G (n.8867+41A>G) n.8937+41A>G c.*4549+41A>G (n.*4549+41A>G) c.8792+41A>G (n.8792+41A>G) c.8864+41A>G (n.8864+41A>G) c.8789+41A>G (n.8789+41A>G) c.8489+41A>G (n.8489+41A>G) c.5753+41A>G (n.5753+41A>G) c.4646+41A>G (n.4646+41A>G) c.8672+41A>G (n.8672+41A>G) c.4424+41A>G (n.4424+41A>G) c.7652+41A>G (n.7652+41A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819624C>A | CA4824554 | VPS13B | c.8867+42C>A (n.8867+42C>A) n.8937+42C>A c.*4549+42C>A (n.*4549+42C>A) c.8792+42C>A (n.8792+42C>A) c.8864+42C>A (n.8864+42C>A) c.8789+42C>A (n.8789+42C>A) c.8489+42C>A (n.8489+42C>A) c.5753+42C>A (n.5753+42C>A) c.4646+42C>A (n.4646+42C>A) c.8672+42C>A (n.8672+42C>A) c.4424+42C>A (n.4424+42C>A) c.7652+42C>A (n.7652+42C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819624C>T | CA583884707 | VPS13B | c.8867+42C>T (n.8867+42C>T) n.8937+42C>T c.*4549+42C>T (n.*4549+42C>T) c.8792+42C>T (n.8792+42C>T) c.8864+42C>T (n.8864+42C>T) c.8789+42C>T (n.8789+42C>T) c.8489+42C>T (n.8489+42C>T) c.5753+42C>T (n.5753+42C>T) c.4646+42C>T (n.4646+42C>T) c.8672+42C>T (n.8672+42C>T) c.4424+42C>T (n.4424+42C>T) c.7652+42C>T (n.7652+42C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819625A>T | CA2688070136 | VPS13B | c.8867+43A>T (n.8867+43A>T) n.8937+43A>T c.*4549+43A>T (n.*4549+43A>T) c.8792+43A>T (n.8792+43A>T) c.8864+43A>T (n.8864+43A>T) c.8789+43A>T (n.8789+43A>T) c.8489+43A>T (n.8489+43A>T) c.5753+43A>T (n.5753+43A>T) c.4646+43A>T (n.4646+43A>T) c.8672+43A>T (n.8672+43A>T) c.4424+43A>T (n.4424+43A>T) c.7652+43A>T (n.7652+43A>T) | gnomAD v4 |
8 | g.99819626_99819628dup | CA4824555 | VPS13B | c.8867+44_8867+46dup (n.8867+44_8867+46dup) n.8937+44_8937+46dup c.*4549+44_*4549+46dup (n.*4549+44_*4549+46dup) c.8792+44_8792+46dup (n.8792+44_8792+46dup) c.8864+44_8864+46dup (n.8864+44_8864+46dup) c.8789+44_8789+46dup (n.8789+44_8789+46dup) c.8489+44_8489+46dup (n.8489+44_8489+46dup) c.5753+44_5753+46dup (n.5753+44_5753+46dup) c.4646+44_4646+46dup (n.4646+44_4646+46dup) c.8672+44_8672+46dup (n.8672+44_8672+46dup) c.4424+44_4424+46dup (n.4424+44_4424+46dup) c.7652+44_7652+46dup (n.7652+44_7652+46dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819626T>A | CA2717814362 | VPS13B | c.8867+44T>A (n.8867+44T>A) n.8937+44T>A c.*4549+44T>A (n.*4549+44T>A) c.8792+44T>A (n.8792+44T>A) c.8864+44T>A (n.8864+44T>A) c.8789+44T>A (n.8789+44T>A) c.8489+44T>A (n.8489+44T>A) c.5753+44T>A (n.5753+44T>A) c.4646+44T>A (n.4646+44T>A) c.8672+44T>A (n.8672+44T>A) c.4424+44T>A (n.4424+44T>A) c.7652+44T>A (n.7652+44T>A) | dbSNP |
8 | g.99819630_99819632del | CA2781476133 | VPS13B | c.8867+48_8867+50del (n.8867+48_8867+50del) n.8937+48_8937+50del c.*4549+48_*4549+50del (n.*4549+48_*4549+50del) c.8792+48_8792+50del (n.8792+48_8792+50del) c.8864+48_8864+50del (n.8864+48_8864+50del) c.8789+48_8789+50del (n.8789+48_8789+50del) c.8489+48_8489+50del (n.8489+48_8489+50del) c.5753+48_5753+50del (n.5753+48_5753+50del) c.4646+48_4646+50del (n.4646+48_4646+50del) c.8672+48_8672+50del (n.8672+48_8672+50del) c.4424+48_4424+50del (n.4424+48_4424+50del) c.7652+48_7652+50del (n.7652+48_7652+50del) | |
8 | g.99819631A>G | CA2717814363 | VPS13B | c.8867+49A>G (n.8867+49A>G) n.8937+49A>G c.*4549+49A>G (n.*4549+49A>G) c.8792+49A>G (n.8792+49A>G) c.8864+49A>G (n.8864+49A>G) c.8789+49A>G (n.8789+49A>G) c.8489+49A>G (n.8489+49A>G) c.5753+49A>G (n.5753+49A>G) c.4646+49A>G (n.4646+49A>G) c.8672+49A>G (n.8672+49A>G) c.4424+49A>G (n.4424+49A>G) c.7652+49A>G (n.7652+49A>G) | dbSNP |
8 | g.99819632_99819634del | CA2781476134 | VPS13B | c.8867+50_8867+52del (n.8867+50_8867+52del) n.8937+50_8937+52del c.*4549+50_*4549+52del (n.*4549+50_*4549+52del) c.8792+50_8792+52del (n.8792+50_8792+52del) c.8864+50_8864+52del (n.8864+50_8864+52del) c.8789+50_8789+52del (n.8789+50_8789+52del) c.8489+50_8489+52del (n.8489+50_8489+52del) c.5753+50_5753+52del (n.5753+50_5753+52del) c.4646+50_4646+52del (n.4646+50_4646+52del) c.8672+50_8672+52del (n.8672+50_8672+52del) c.4424+50_4424+52del (n.4424+50_4424+52del) c.7652+50_7652+52del (n.7652+50_7652+52del) | |
8 | g.99819633A>G | CA2688070137 | VPS13B | c.8867+51A>G (n.8867+51A>G) n.8937+51A>G c.*4549+51A>G (n.*4549+51A>G) c.8792+51A>G (n.8792+51A>G) c.8864+51A>G (n.8864+51A>G) c.8789+51A>G (n.8789+51A>G) c.8489+51A>G (n.8489+51A>G) c.5753+51A>G (n.5753+51A>G) c.4646+51A>G (n.4646+51A>G) c.8672+51A>G (n.8672+51A>G) c.4424+51A>G (n.4424+51A>G) c.7652+51A>G (n.7652+51A>G) | gnomAD v4 |
8 | g.99819633_99819637del | CA2781476135 | VPS13B | c.8867+51_8867+55del (n.8867+51_8867+55del) n.8937+51_8937+55del c.*4549+51_*4549+55del (n.*4549+51_*4549+55del) c.8792+51_8792+55del (n.8792+51_8792+55del) c.8864+51_8864+55del (n.8864+51_8864+55del) c.8789+51_8789+55del (n.8789+51_8789+55del) c.8489+51_8489+55del (n.8489+51_8489+55del) c.5753+51_5753+55del (n.5753+51_5753+55del) c.4646+51_4646+55del (n.4646+51_4646+55del) c.8672+51_8672+55del (n.8672+51_8672+55del) c.4424+51_4424+55del (n.4424+51_4424+55del) c.7652+51_7652+55del (n.7652+51_7652+55del) | |
8 | g.99819634T>G | CA2781476136 | VPS13B | c.8867+52T>G (n.8867+52T>G) n.8937+52T>G c.*4549+52T>G (n.*4549+52T>G) c.8792+52T>G (n.8792+52T>G) c.8864+52T>G (n.8864+52T>G) c.8789+52T>G (n.8789+52T>G) c.8489+52T>G (n.8489+52T>G) c.5753+52T>G (n.5753+52T>G) c.4646+52T>G (n.4646+52T>G) c.8672+52T>G (n.8672+52T>G) c.4424+52T>G (n.4424+52T>G) c.7652+52T>G (n.7652+52T>G) | |
8 | g.99819634_99819635insACA | CA2781476137 | VPS13B | c.8867+52_8867+53insACA (n.8867+52_8867+53insACA) n.8937+52_8937+53insACA c.*4549+52_*4549+53insACA (n.*4549+52_*4549+53insACA) c.8792+52_8792+53insACA (n.8792+52_8792+53insACA) c.8864+52_8864+53insACA (n.8864+52_8864+53insACA) c.8789+52_8789+53insACA (n.8789+52_8789+53insACA) c.8489+52_8489+53insACA (n.8489+52_8489+53insACA) c.5753+52_5753+53insACA (n.5753+52_5753+53insACA) c.4646+52_4646+53insACA (n.4646+52_4646+53insACA) c.8672+52_8672+53insACA (n.8672+52_8672+53insACA) c.4424+52_4424+53insACA (n.4424+52_4424+53insACA) c.7652+52_7652+53insACA (n.7652+52_7652+53insACA) | |
8 | g.99819635G>A | CA2579216301 | VPS13B | c.8867+53G>A (n.8867+53G>A) n.8937+53G>A c.*4549+53G>A (n.*4549+53G>A) c.8792+53G>A (n.8792+53G>A) c.8864+53G>A (n.8864+53G>A) c.8789+53G>A (n.8789+53G>A) c.8489+53G>A (n.8489+53G>A) c.5753+53G>A (n.5753+53G>A) c.4646+53G>A (n.4646+53G>A) c.8672+53G>A (n.8672+53G>A) c.4424+53G>A (n.4424+53G>A) c.7652+53G>A (n.7652+53G>A) | gnomAD v4 |
8 | g.99819635G>T | CA2688070138 | VPS13B | c.8867+53G>T (n.8867+53G>T) n.8937+53G>T c.*4549+53G>T (n.*4549+53G>T) c.8792+53G>T (n.8792+53G>T) c.8864+53G>T (n.8864+53G>T) c.8789+53G>T (n.8789+53G>T) c.8489+53G>T (n.8489+53G>T) c.5753+53G>T (n.5753+53G>T) c.4646+53G>T (n.4646+53G>T) c.8672+53G>T (n.8672+53G>T) c.4424+53G>T (n.4424+53G>T) c.7652+53G>T (n.7652+53G>T) | gnomAD v4 |
8 | g.99819636A>C | CA2579216302 | VPS13B | c.8867+54A>C (n.8867+54A>C) n.8937+54A>C c.*4549+54A>C (n.*4549+54A>C) c.8792+54A>C (n.8792+54A>C) c.8864+54A>C (n.8864+54A>C) c.8789+54A>C (n.8789+54A>C) c.8489+54A>C (n.8489+54A>C) c.5753+54A>C (n.5753+54A>C) c.4646+54A>C (n.4646+54A>C) c.8672+54A>C (n.8672+54A>C) c.4424+54A>C (n.4424+54A>C) c.7652+54A>C (n.7652+54A>C) | |
8 | g.99819636A>G | CA2688070139 | VPS13B | c.8867+54A>G (n.8867+54A>G) n.8937+54A>G c.*4549+54A>G (n.*4549+54A>G) c.8792+54A>G (n.8792+54A>G) c.8864+54A>G (n.8864+54A>G) c.8789+54A>G (n.8789+54A>G) c.8489+54A>G (n.8489+54A>G) c.5753+54A>G (n.5753+54A>G) c.4646+54A>G (n.4646+54A>G) c.8672+54A>G (n.8672+54A>G) c.4424+54A>G (n.4424+54A>G) c.7652+54A>G (n.7652+54A>G) | gnomAD v4 |
8 | g.99819637T>G | CA2718038875 | VPS13B | c.8867+55T>G (n.8867+55T>G) n.8937+55T>G c.*4549+55T>G (n.*4549+55T>G) c.8792+55T>G (n.8792+55T>G) c.8864+55T>G (n.8864+55T>G) c.8789+55T>G (n.8789+55T>G) c.8489+55T>G (n.8489+55T>G) c.5753+55T>G (n.5753+55T>G) c.4646+55T>G (n.4646+55T>G) c.8672+55T>G (n.8672+55T>G) c.4424+55T>G (n.4424+55T>G) c.7652+55T>G (n.7652+55T>G) | dbSNP |
8 | g.99819637_99819638insA | CA2781476138 | VPS13B | c.8867+55_8867+56insA (n.8867+55_8867+56insA) n.8937+55_8937+56insA c.*4549+55_*4549+56insA (n.*4549+55_*4549+56insA) c.8792+55_8792+56insA (n.8792+55_8792+56insA) c.8864+55_8864+56insA (n.8864+55_8864+56insA) c.8789+55_8789+56insA (n.8789+55_8789+56insA) c.8489+55_8489+56insA (n.8489+55_8489+56insA) c.5753+55_5753+56insA (n.5753+55_5753+56insA) c.4646+55_4646+56insA (n.4646+55_4646+56insA) c.8672+55_8672+56insA (n.8672+55_8672+56insA) c.4424+55_4424+56insA (n.4424+55_4424+56insA) c.7652+55_7652+56insA (n.7652+55_7652+56insA) | |
8 | g.99819638C>A | CA2688070140 | VPS13B | c.8867+56C>A (n.8867+56C>A) n.8937+56C>A c.*4549+56C>A (n.*4549+56C>A) c.8792+56C>A (n.8792+56C>A) c.8864+56C>A (n.8864+56C>A) c.8789+56C>A (n.8789+56C>A) c.8489+56C>A (n.8489+56C>A) c.5753+56C>A (n.5753+56C>A) c.4646+56C>A (n.4646+56C>A) c.8672+56C>A (n.8672+56C>A) c.4424+56C>A (n.4424+56C>A) c.7652+56C>A (n.7652+56C>A) | gnomAD v4 |
8 | g.99819638C>G | CA2781476140 | VPS13B | c.8867+56C>G (n.8867+56C>G) n.8937+56C>G c.*4549+56C>G (n.*4549+56C>G) c.8792+56C>G (n.8792+56C>G) c.8864+56C>G (n.8864+56C>G) c.8789+56C>G (n.8789+56C>G) c.8489+56C>G (n.8489+56C>G) c.5753+56C>G (n.5753+56C>G) c.4646+56C>G (n.4646+56C>G) c.8672+56C>G (n.8672+56C>G) c.4424+56C>G (n.4424+56C>G) c.7652+56C>G (n.7652+56C>G) | |
8 | g.99819638C>T | CA2688070141 | VPS13B | c.8867+56C>T (n.8867+56C>T) n.8937+56C>T c.*4549+56C>T (n.*4549+56C>T) c.8792+56C>T (n.8792+56C>T) c.8864+56C>T (n.8864+56C>T) c.8789+56C>T (n.8789+56C>T) c.8489+56C>T (n.8489+56C>T) c.5753+56C>T (n.5753+56C>T) c.4646+56C>T (n.4646+56C>T) c.8672+56C>T (n.8672+56C>T) c.4424+56C>T (n.4424+56C>T) c.7652+56C>T (n.7652+56C>T) | dbSNP gnomAD v4 |
8 | g.99819638_99819642del | CA2781476139 | VPS13B | c.8867+56_8867+60del (n.8867+56_8867+60del) n.8937+56_8937+60del c.*4549+56_*4549+60del (n.*4549+56_*4549+60del) c.8792+56_8792+60del (n.8792+56_8792+60del) c.8864+56_8864+60del (n.8864+56_8864+60del) c.8789+56_8789+60del (n.8789+56_8789+60del) c.8489+56_8489+60del (n.8489+56_8489+60del) c.5753+56_5753+60del (n.5753+56_5753+60del) c.4646+56_4646+60del (n.4646+56_4646+60del) c.8672+56_8672+60del (n.8672+56_8672+60del) c.4424+56_4424+60del (n.4424+56_4424+60del) c.7652+56_7652+60del (n.7652+56_7652+60del) | |
8 | g.99819639A>G | CA857600428 | VPS13B | c.8867+57A>G (n.8867+57A>G) n.8937+57A>G c.*4549+57A>G (n.*4549+57A>G) c.8792+57A>G (n.8792+57A>G) c.8864+57A>G (n.8864+57A>G) c.8789+57A>G (n.8789+57A>G) c.8489+57A>G (n.8489+57A>G) c.5753+57A>G (n.5753+57A>G) c.4646+57A>G (n.4646+57A>G) c.8672+57A>G (n.8672+57A>G) c.4424+57A>G (n.4424+57A>G) c.7652+57A>G (n.7652+57A>G) | dbSNP |
8 | g.99819640T>C | CA182328889 | VPS13B | c.8867+58T>C (n.8867+58T>C) n.8937+58T>C c.*4549+58T>C (n.*4549+58T>C) c.8792+58T>C (n.8792+58T>C) c.8864+58T>C (n.8864+58T>C) c.8789+58T>C (n.8789+58T>C) c.8489+58T>C (n.8489+58T>C) c.5753+58T>C (n.5753+58T>C) c.4646+58T>C (n.4646+58T>C) c.8672+58T>C (n.8672+58T>C) c.4424+58T>C (n.4424+58T>C) c.7652+58T>C (n.7652+58T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819640T>G | CA2688070142 | VPS13B | c.8867+58T>G (n.8867+58T>G) n.8937+58T>G c.*4549+58T>G (n.*4549+58T>G) c.8792+58T>G (n.8792+58T>G) c.8864+58T>G (n.8864+58T>G) c.8789+58T>G (n.8789+58T>G) c.8489+58T>G (n.8489+58T>G) c.5753+58T>G (n.5753+58T>G) c.4646+58T>G (n.4646+58T>G) c.8672+58T>G (n.8672+58T>G) c.4424+58T>G (n.4424+58T>G) c.7652+58T>G (n.7652+58T>G) | gnomAD v4 |