Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99875518_99875547del | CA4825355 | COX6C,VPS13B | c.*1575_*1604del (n.*1575_*1604del) n.12551_12580del c.*7603_*7632del (n.*7603_*7632del) c.11846_11875del (p.Met3949_Glu3959delinsLys) c.11921_11950del (p.Met3974_Glu3984delinsLys) n.1423_1452del c.*142-455_*142-426del (n.*142-455_*142-426del) c.*142-2254_*142-2225del (n.*142-2254_*142-2225del) c.11918_11947del (p.Met3973_Glu3983delinsLys) c.11843_11872del (p.Met3948_Glu3958delinsLys) c.11543_11572del (p.Met3848_Glu3858delinsLys) c.8807_8836del (p.Met2936_Glu2946delinsLys) c.7700_7729del (p.Met2567_Glu2577delinsLys) c.11726_11755del (p.Met3909_Glu3919delinsLys) c.7478_7507del (p.Met2493_Glu2503delinsLys) c.10706_10735del (p.Met3569_Glu3579delinsLys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875540G>A | CA462458513 | COX6C,VPS13B | c.*1597G>A (n.*1597G>A) n.12573G>A c.*7625G>A (n.*7625G>A) c.11868G>A (p.Val3956=) c.11943G>A (p.Val3981=) n.1445G>A c.*142-448C>T (n.*142-448C>T) c.*142-2247C>T (n.*142-2247C>T) c.11940G>A (p.Val3980=) c.11865G>A (p.Val3955=) c.11565G>A (p.Val3855=) c.8829G>A (p.Val2943=) c.7722G>A (p.Val2574=) c.11748G>A (p.Val3916=) c.7500G>A (p.Val2500=) c.10728G>A (p.Val3576=) | |
8 | g.99875540G>C | CA462458515 | COX6C,VPS13B | c.*1597G>C (n.*1597G>C) n.12573G>C c.*7625G>C (n.*7625G>C) c.11868G>C (p.Val3956=) c.11943G>C (p.Val3981=) n.1445G>C c.*142-448C>G (n.*142-448C>G) c.*142-2247C>G (n.*142-2247C>G) c.11940G>C (p.Val3980=) c.11865G>C (p.Val3955=) c.11565G>C (p.Val3855=) c.8829G>C (p.Val2943=) c.7722G>C (p.Val2574=) c.11748G>C (p.Val3916=) c.7500G>C (p.Val2500=) c.10728G>C (p.Val3576=) | |
8 | g.99875540G>T | CA462458516 | COX6C,VPS13B | c.*1597G>T (n.*1597G>T) n.12573G>T c.*7625G>T (n.*7625G>T) c.11868G>T (p.Val3956=) c.11943G>T (p.Val3981=) n.1445G>T c.*142-448C>A (n.*142-448C>A) c.*142-2247C>A (n.*142-2247C>A) c.11940G>T (p.Val3980=) c.11865G>T (p.Val3955=) c.11565G>T (p.Val3855=) c.8829G>T (p.Val2943=) c.7722G>T (p.Val2574=) c.11748G>T (p.Val3916=) c.7500G>T (p.Val2500=) c.10728G>T (p.Val3576=) | |
8 | g.99875541G>A | CA371795820 | COX6C,VPS13B | c.*1598G>A (n.*1598G>A) n.12574G>A c.*7626G>A (n.*7626G>A) c.11869G>A (p.Ala3957Thr) c.11944G>A (p.Ala3982Thr) n.1446G>A c.*142-449C>T (n.*142-449C>T) c.*142-2248C>T (n.*142-2248C>T) c.11941G>A (p.Ala3981Thr) c.11866G>A (p.Ala3956Thr) c.11566G>A (p.Ala3856Thr) c.8830G>A (p.Ala2944Thr) c.7723G>A (p.Ala2575Thr) c.11749G>A (p.Ala3917Thr) c.7501G>A (p.Ala2501Thr) c.10729G>A (p.Ala3577Thr) | gnomAD v4 |
8 | g.99875541G>C | CA371795822 | COX6C,VPS13B | c.*1598G>C (n.*1598G>C) n.12574G>C c.*7626G>C (n.*7626G>C) c.11869G>C (p.Ala3957Pro) c.11944G>C (p.Ala3982Pro) n.1446G>C c.*142-449C>G (n.*142-449C>G) c.*142-2248C>G (n.*142-2248C>G) c.11941G>C (p.Ala3981Pro) c.11866G>C (p.Ala3956Pro) c.11566G>C (p.Ala3856Pro) c.8830G>C (p.Ala2944Pro) c.7723G>C (p.Ala2575Pro) c.11749G>C (p.Ala3917Pro) c.7501G>C (p.Ala2501Pro) c.10729G>C (p.Ala3577Pro) | |
8 | g.99875541G>T | CA371795824 | COX6C,VPS13B | c.*1598G>T (n.*1598G>T) n.12574G>T c.*7626G>T (n.*7626G>T) c.11869G>T (p.Ala3957Ser) c.11944G>T (p.Ala3982Ser) n.1446G>T c.*142-449C>A (n.*142-449C>A) c.*142-2248C>A (n.*142-2248C>A) c.11941G>T (p.Ala3981Ser) c.11866G>T (p.Ala3956Ser) c.11566G>T (p.Ala3856Ser) c.8830G>T (p.Ala2944Ser) c.7723G>T (p.Ala2575Ser) c.11749G>T (p.Ala3917Ser) c.7501G>T (p.Ala2501Ser) c.10729G>T (p.Ala3577Ser) | |
8 | g.99875542C>A | CA371795829 | COX6C,VPS13B | c.*1599C>A (n.*1599C>A) n.12575C>A c.*7627C>A (n.*7627C>A) c.11870C>A (p.Ala3957Asp) c.11945C>A (p.Ala3982Asp) n.1447C>A c.*142-450G>T (n.*142-450G>T) c.*142-2249G>T (n.*142-2249G>T) c.11942C>A (p.Ala3981Asp) c.11867C>A (p.Ala3956Asp) c.11567C>A (p.Ala3856Asp) c.8831C>A (p.Ala2944Asp) c.7724C>A (p.Ala2575Asp) c.11750C>A (p.Ala3917Asp) c.7502C>A (p.Ala2501Asp) c.10730C>A (p.Ala3577Asp) | COSMIC |
8 | g.99875542C>G | CA371795831 | COX6C,VPS13B | c.*1599C>G (n.*1599C>G) n.12575C>G c.*7627C>G (n.*7627C>G) c.11870C>G (p.Ala3957Gly) c.11945C>G (p.Ala3982Gly) n.1447C>G c.*142-450G>C (n.*142-450G>C) c.*142-2249G>C (n.*142-2249G>C) c.11942C>G (p.Ala3981Gly) c.11867C>G (p.Ala3956Gly) c.11567C>G (p.Ala3856Gly) c.8831C>G (p.Ala2944Gly) c.7724C>G (p.Ala2575Gly) c.11750C>G (p.Ala3917Gly) c.7502C>G (p.Ala2501Gly) c.10730C>G (p.Ala3577Gly) | |
8 | g.99875542C>T | CA371795826 | COX6C,VPS13B | c.*1599C>T (n.*1599C>T) n.12575C>T c.*7627C>T (n.*7627C>T) c.11870C>T (p.Ala3957Val) c.11945C>T (p.Ala3982Val) n.1447C>T c.*142-450G>A (n.*142-450G>A) c.*142-2249G>A (n.*142-2249G>A) c.11942C>T (p.Ala3981Val) c.11867C>T (p.Ala3956Val) c.11567C>T (p.Ala3856Val) c.8831C>T (p.Ala2944Val) c.7724C>T (p.Ala2575Val) c.11750C>T (p.Ala3917Val) c.7502C>T (p.Ala2501Val) c.10730C>T (p.Ala3577Val) | |
8 | g.99875543T>A | CA462458517 | COX6C,VPS13B | c.*1600T>A (n.*1600T>A) n.12576T>A c.*7628T>A (n.*7628T>A) c.11871T>A (p.Ala3957=) c.11946T>A (p.Ala3982=) n.1448T>A c.*142-451A>T (n.*142-451A>T) c.*142-2250A>T (n.*142-2250A>T) c.11943T>A (p.Ala3981=) c.11868T>A (p.Ala3956=) c.11568T>A (p.Ala3856=) c.8832T>A (p.Ala2944=) c.7725T>A (p.Ala2575=) c.11751T>A (p.Ala3917=) c.7503T>A (p.Ala2501=) c.10731T>A (p.Ala3577=) | |
8 | g.99875543T>C | CA462458519 | COX6C,VPS13B | c.*1600T>C (n.*1600T>C) n.12576T>C c.*7628T>C (n.*7628T>C) c.11871T>C (p.Ala3957=) c.11946T>C (p.Ala3982=) n.1448T>C c.*142-451A>G (n.*142-451A>G) c.*142-2250A>G (n.*142-2250A>G) c.11943T>C (p.Ala3981=) c.11868T>C (p.Ala3956=) c.11568T>C (p.Ala3856=) c.8832T>C (p.Ala2944=) c.7725T>C (p.Ala2575=) c.11751T>C (p.Ala3917=) c.7503T>C (p.Ala2501=) c.10731T>C (p.Ala3577=) | |
8 | g.99875543T>G | CA462458518 | COX6C,VPS13B | c.*1600T>G (n.*1600T>G) n.12576T>G c.*7628T>G (n.*7628T>G) c.11871T>G (p.Ala3957=) c.11946T>G (p.Ala3982=) n.1448T>G c.*142-451A>C (n.*142-451A>C) c.*142-2250A>C (n.*142-2250A>C) c.11943T>G (p.Ala3981=) c.11868T>G (p.Ala3956=) c.11568T>G (p.Ala3856=) c.8832T>G (p.Ala2944=) c.7725T>G (p.Ala2575=) c.11751T>G (p.Ala3917=) c.7503T>G (p.Ala2501=) c.10731T>G (p.Ala3577=) | |
8 | g.99875544G>A | CA371795832 | COX6C,VPS13B | c.*1601G>A (n.*1601G>A) n.12577G>A c.*7629G>A (n.*7629G>A) c.11872G>A (p.Ala3958Thr) c.11947G>A (p.Ala3983Thr) n.1449G>A c.*142-452C>T (n.*142-452C>T) c.*142-2251C>T (n.*142-2251C>T) c.11944G>A (p.Ala3982Thr) c.11869G>A (p.Ala3957Thr) c.11569G>A (p.Ala3857Thr) c.8833G>A (p.Ala2945Thr) c.7726G>A (p.Ala2576Thr) c.11752G>A (p.Ala3918Thr) c.7504G>A (p.Ala2502Thr) c.10732G>A (p.Ala3578Thr) | gnomAD v4 |
8 | g.99875544G>C | CA371795834 | COX6C,VPS13B | c.*1601G>C (n.*1601G>C) n.12577G>C c.*7629G>C (n.*7629G>C) c.11872G>C (p.Ala3958Pro) c.11947G>C (p.Ala3983Pro) n.1449G>C c.*142-452C>G (n.*142-452C>G) c.*142-2251C>G (n.*142-2251C>G) c.11944G>C (p.Ala3982Pro) c.11869G>C (p.Ala3957Pro) c.11569G>C (p.Ala3857Pro) c.8833G>C (p.Ala2945Pro) c.7726G>C (p.Ala2576Pro) c.11752G>C (p.Ala3918Pro) c.7504G>C (p.Ala2502Pro) c.10732G>C (p.Ala3578Pro) | |
8 | g.99875544G>T | CA371795836 | COX6C,VPS13B | c.*1601G>T (n.*1601G>T) n.12577G>T c.*7629G>T (n.*7629G>T) c.11872G>T (p.Ala3958Ser) c.11947G>T (p.Ala3983Ser) n.1449G>T c.*142-452C>A (n.*142-452C>A) c.*142-2251C>A (n.*142-2251C>A) c.11944G>T (p.Ala3982Ser) c.11869G>T (p.Ala3957Ser) c.11569G>T (p.Ala3857Ser) c.8833G>T (p.Ala2945Ser) c.7726G>T (p.Ala2576Ser) c.11752G>T (p.Ala3918Ser) c.7504G>T (p.Ala2502Ser) c.10732G>T (p.Ala3578Ser) | |
8 | g.99875545C>A | CA371795837 | COX6C,VPS13B | c.*1602C>A (n.*1602C>A) n.12578C>A c.*7630C>A (n.*7630C>A) c.11873C>A (p.Ala3958Glu) c.11948C>A (p.Ala3983Glu) n.1450C>A c.*142-453G>T (n.*142-453G>T) c.*142-2252G>T (n.*142-2252G>T) c.11945C>A (p.Ala3982Glu) c.11870C>A (p.Ala3957Glu) c.11570C>A (p.Ala3857Glu) c.8834C>A (p.Ala2945Glu) c.7727C>A (p.Ala2576Glu) c.11753C>A (p.Ala3918Glu) c.7505C>A (p.Ala2502Glu) c.10733C>A (p.Ala3578Glu) | |
8 | g.99875545C>G | CA371795839 | COX6C,VPS13B | c.*1602C>G (n.*1602C>G) n.12578C>G c.*7630C>G (n.*7630C>G) c.11873C>G (p.Ala3958Gly) c.11948C>G (p.Ala3983Gly) n.1450C>G c.*142-453G>C (n.*142-453G>C) c.*142-2252G>C (n.*142-2252G>C) c.11945C>G (p.Ala3982Gly) c.11870C>G (p.Ala3957Gly) c.11570C>G (p.Ala3857Gly) c.8834C>G (p.Ala2945Gly) c.7727C>G (p.Ala2576Gly) c.11753C>G (p.Ala3918Gly) c.7505C>G (p.Ala2502Gly) c.10733C>G (p.Ala3578Gly) | |
8 | g.99875545C>T | CA371795841 | COX6C,VPS13B | c.*1602C>T (n.*1602C>T) n.12578C>T c.*7630C>T (n.*7630C>T) c.11873C>T (p.Ala3958Val) c.11948C>T (p.Ala3983Val) n.1450C>T c.*142-453G>A (n.*142-453G>A) c.*142-2252G>A (n.*142-2252G>A) c.11945C>T (p.Ala3982Val) c.11870C>T (p.Ala3957Val) c.11570C>T (p.Ala3857Val) c.8834C>T (p.Ala2945Val) c.7727C>T (p.Ala2576Val) c.11753C>T (p.Ala3918Val) c.7505C>T (p.Ala2502Val) c.10733C>T (p.Ala3578Val) | gnomAD v4 |
8 | g.99875546A>C | CA462458524 | COX6C,VPS13B | c.*1603A>C (n.*1603A>C) n.12579A>C c.*7631A>C (n.*7631A>C) c.11874A>C (p.Ala3958=) c.11949A>C (p.Ala3983=) n.1451A>C c.*142-454T>G (n.*142-454T>G) c.*142-2253T>G (n.*142-2253T>G) c.11946A>C (p.Ala3982=) c.11871A>C (p.Ala3957=) c.11571A>C (p.Ala3857=) c.8835A>C (p.Ala2945=) c.7728A>C (p.Ala2576=) c.11754A>C (p.Ala3918=) c.7506A>C (p.Ala2502=) c.10734A>C (p.Ala3578=) | |
8 | g.99875546A>G | CA462458525 | COX6C,VPS13B | c.*1603A>G (n.*1603A>G) n.12579A>G c.*7631A>G (n.*7631A>G) c.11874A>G (p.Ala3958=) c.11949A>G (p.Ala3983=) n.1451A>G c.*142-454T>C (n.*142-454T>C) c.*142-2253T>C (n.*142-2253T>C) c.11946A>G (p.Ala3982=) c.11871A>G (p.Ala3957=) c.11571A>G (p.Ala3857=) c.8835A>G (p.Ala2945=) c.7728A>G (p.Ala2576=) c.11754A>G (p.Ala3918=) c.7506A>G (p.Ala2502=) c.10734A>G (p.Ala3578=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875546A>T | CA462458526 | COX6C,VPS13B | c.*1603A>T (n.*1603A>T) n.12579A>T c.*7631A>T (n.*7631A>T) c.11874A>T (p.Ala3958=) c.11949A>T (p.Ala3983=) n.1451A>T c.*142-454T>A (n.*142-454T>A) c.*142-2253T>A (n.*142-2253T>A) c.11946A>T (p.Ala3982=) c.11871A>T (p.Ala3957=) c.11571A>T (p.Ala3857=) c.8835A>T (p.Ala2945=) c.7728A>T (p.Ala2576=) c.11754A>T (p.Ala3918=) c.7506A>T (p.Ala2502=) c.10734A>T (p.Ala3578=) | |
8 | g.99875547G>A | CA371795847 | COX6C,VPS13B | c.*1604G>A (n.*1604G>A) n.12580G>A c.*7632G>A (n.*7632G>A) c.11875G>A (p.Glu3959Lys) c.11950G>A (p.Glu3984Lys) n.1452G>A c.*142-455C>T (n.*142-455C>T) c.*142-2254C>T (n.*142-2254C>T) c.11947G>A (p.Glu3983Lys) c.11872G>A (p.Glu3958Lys) c.11572G>A (p.Glu3858Lys) c.8836G>A (p.Glu2946Lys) c.7729G>A (p.Glu2577Lys) c.11755G>A (p.Glu3919Lys) c.7507G>A (p.Glu2503Lys) c.10735G>A (p.Glu3579Lys) | |
8 | g.99875547G>C | CA371795843 | COX6C,VPS13B | c.*1604G>C (n.*1604G>C) n.12580G>C c.*7632G>C (n.*7632G>C) c.11875G>C (p.Glu3959Gln) c.11950G>C (p.Glu3984Gln) n.1452G>C c.*142-455C>G (n.*142-455C>G) c.*142-2254C>G (n.*142-2254C>G) c.11947G>C (p.Glu3983Gln) c.11872G>C (p.Glu3958Gln) c.11572G>C (p.Glu3858Gln) c.8836G>C (p.Glu2946Gln) c.7729G>C (p.Glu2577Gln) c.11755G>C (p.Glu3919Gln) c.7507G>C (p.Glu2503Gln) c.10735G>C (p.Glu3579Gln) | |
8 | g.99875547G>T | CA371795845 | COX6C,VPS13B | c.*1604G>T (n.*1604G>T) n.12580G>T c.*7632G>T (n.*7632G>T) c.11875G>T (p.Glu3959Ter) c.11950G>T (p.Glu3984Ter) n.1452G>T c.*142-455C>A (n.*142-455C>A) c.*142-2254C>A (n.*142-2254C>A) c.11947G>T (p.Glu3983Ter) c.11872G>T (p.Glu3958Ter) c.11572G>T (p.Glu3858Ter) c.8836G>T (p.Glu2946Ter) c.7729G>T (p.Glu2577Ter) c.11755G>T (p.Glu3919Ter) c.7507G>T (p.Glu2503Ter) c.10735G>T (p.Glu3579Ter) | |
8 | g.99875548_99875585dup | CA2688072540 | COX6C,VPS13B | c.*1605_*1642dup (n.*1605_*1642dup) n.12581_12618dup c.*7633_*7670dup (n.*7633_*7670dup) c.11876_11913dup (p.Val3972AsnfsTer29) c.11951_11988dup (p.Val3997AsnfsTer29) n.1453_1490dup c.*142-492_*142-455dup (n.*142-492_*142-455dup) c.*142-2291_*142-2254dup (n.*142-2291_*142-2254dup) c.11948_11985dup (p.Val3996AsnfsTer29) c.11873_11910dup (p.Val3971AsnfsTer29) c.11573_11610dup (p.Val3871AsnfsTer29) c.8837_8874dup (p.Val2959AsnfsTer29) c.7730_7767dup (p.Val2590AsnfsTer29) c.11756_11793dup (p.Val3932AsnfsTer29) c.7508_7545dup (p.Val2516AsnfsTer29) c.10736_10773dup (p.Val3592AsnfsTer29) | gnomAD v4 |
8 | g.99875548A>C | CA371795849 | COX6C,VPS13B | c.*1605A>C (n.*1605A>C) n.12581A>C c.*7633A>C (n.*7633A>C) c.11876A>C (p.Glu3959Ala) c.11951A>C (p.Glu3984Ala) n.1453A>C c.*142-456T>G (n.*142-456T>G) c.*142-2255T>G (n.*142-2255T>G) c.11948A>C (p.Glu3983Ala) c.11873A>C (p.Glu3958Ala) c.11573A>C (p.Glu3858Ala) c.8837A>C (p.Glu2946Ala) c.7730A>C (p.Glu2577Ala) c.11756A>C (p.Glu3919Ala) c.7508A>C (p.Glu2503Ala) c.10736A>C (p.Glu3579Ala) | |
8 | g.99875548A>G | CA371795851 | COX6C,VPS13B | c.*1605A>G (n.*1605A>G) n.12581A>G c.*7633A>G (n.*7633A>G) c.11876A>G (p.Glu3959Gly) c.11951A>G (p.Glu3984Gly) n.1453A>G c.*142-456T>C (n.*142-456T>C) c.*142-2255T>C (n.*142-2255T>C) c.11948A>G (p.Glu3983Gly) c.11873A>G (p.Glu3958Gly) c.11573A>G (p.Glu3858Gly) c.8837A>G (p.Glu2946Gly) c.7730A>G (p.Glu2577Gly) c.11756A>G (p.Glu3919Gly) c.7508A>G (p.Glu2503Gly) c.10736A>G (p.Glu3579Gly) | |
8 | g.99875548A>T | CA371795853 | COX6C,VPS13B | c.*1605A>T (n.*1605A>T) n.12581A>T c.*7633A>T (n.*7633A>T) c.11876A>T (p.Glu3959Val) c.11951A>T (p.Glu3984Val) n.1453A>T c.*142-456T>A (n.*142-456T>A) c.*142-2255T>A (n.*142-2255T>A) c.11948A>T (p.Glu3983Val) c.11873A>T (p.Glu3958Val) c.11573A>T (p.Glu3858Val) c.8837A>T (p.Glu2946Val) c.7730A>T (p.Glu2577Val) c.11756A>T (p.Glu3919Val) c.7508A>T (p.Glu2503Val) c.10736A>T (p.Glu3579Val) | ClinVar dbSNP |
8 | g.99875549A>C | CA4825360 | COX6C,VPS13B | c.*1606A>C (n.*1606A>C) n.12582A>C c.*7634A>C (n.*7634A>C) c.11877A>C (p.Glu3959Asp) c.11952A>C (p.Glu3984Asp) n.1454A>C c.*142-457T>G (n.*142-457T>G) c.*142-2256T>G (n.*142-2256T>G) c.11949A>C (p.Glu3983Asp) c.11874A>C (p.Glu3958Asp) c.11574A>C (p.Glu3858Asp) c.8838A>C (p.Glu2946Asp) c.7731A>C (p.Glu2577Asp) c.11757A>C (p.Glu3919Asp) c.7509A>C (p.Glu2503Asp) c.10737A>C (p.Glu3579Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875549A>G | CA462458530 | COX6C,VPS13B | c.*1606A>G (n.*1606A>G) n.12582A>G c.*7634A>G (n.*7634A>G) c.11877A>G (p.Glu3959=) c.11952A>G (p.Glu3984=) n.1454A>G c.*142-457T>C (n.*142-457T>C) c.*142-2256T>C (n.*142-2256T>C) c.11949A>G (p.Glu3983=) c.11874A>G (p.Glu3958=) c.11574A>G (p.Glu3858=) c.8838A>G (p.Glu2946=) c.7731A>G (p.Glu2577=) c.11757A>G (p.Glu3919=) c.7509A>G (p.Glu2503=) c.10737A>G (p.Glu3579=) | |
8 | g.99875549A>T | CA371795854 | COX6C,VPS13B | c.*1606A>T (n.*1606A>T) n.12582A>T c.*7634A>T (n.*7634A>T) c.11877A>T (p.Glu3959Asp) c.11952A>T (p.Glu3984Asp) n.1454A>T c.*142-457T>A (n.*142-457T>A) c.*142-2256T>A (n.*142-2256T>A) c.11949A>T (p.Glu3983Asp) c.11874A>T (p.Glu3958Asp) c.11574A>T (p.Glu3858Asp) c.8838A>T (p.Glu2946Asp) c.7731A>T (p.Glu2577Asp) c.11757A>T (p.Glu3919Asp) c.7509A>T (p.Glu2503Asp) c.10737A>T (p.Glu3579Asp) | |
8 | g.99875550C>A | CA371795856 | COX6C,VPS13B | c.*1607C>A (n.*1607C>A) n.12583C>A c.*7635C>A (n.*7635C>A) c.11878C>A (p.Pro3960Thr) c.11953C>A (p.Pro3985Thr) n.1455C>A c.*142-458G>T (n.*142-458G>T) c.*142-2257G>T (n.*142-2257G>T) c.11950C>A (p.Pro3984Thr) c.11875C>A (p.Pro3959Thr) c.11575C>A (p.Pro3859Thr) c.8839C>A (p.Pro2947Thr) c.7732C>A (p.Pro2578Thr) c.11758C>A (p.Pro3920Thr) c.7510C>A (p.Pro2504Thr) c.10738C>A (p.Pro3580Thr) | gnomAD v4 |
8 | g.99875550C>G | CA371795859 | COX6C,VPS13B | c.*1607C>G (n.*1607C>G) n.12583C>G c.*7635C>G (n.*7635C>G) c.11878C>G (p.Pro3960Ala) c.11953C>G (p.Pro3985Ala) n.1455C>G c.*142-458G>C (n.*142-458G>C) c.*142-2257G>C (n.*142-2257G>C) c.11950C>G (p.Pro3984Ala) c.11875C>G (p.Pro3959Ala) c.11575C>G (p.Pro3859Ala) c.8839C>G (p.Pro2947Ala) c.7732C>G (p.Pro2578Ala) c.11758C>G (p.Pro3920Ala) c.7510C>G (p.Pro2504Ala) c.10738C>G (p.Pro3580Ala) | |
8 | g.99875550C>T | CA371795858 | COX6C,VPS13B | c.*1607C>T (n.*1607C>T) n.12583C>T c.*7635C>T (n.*7635C>T) c.11878C>T (p.Pro3960Ser) c.11953C>T (p.Pro3985Ser) n.1455C>T c.*142-458G>A (n.*142-458G>A) c.*142-2257G>A (n.*142-2257G>A) c.11950C>T (p.Pro3984Ser) c.11875C>T (p.Pro3959Ser) c.11575C>T (p.Pro3859Ser) c.8839C>T (p.Pro2947Ser) c.7732C>T (p.Pro2578Ser) c.11758C>T (p.Pro3920Ser) c.7510C>T (p.Pro2504Ser) c.10738C>T (p.Pro3580Ser) | |
8 | g.99875551C>A | CA371795861 | COX6C,VPS13B | c.*1608C>A (n.*1608C>A) n.12584C>A c.*7636C>A (n.*7636C>A) c.11879C>A (p.Pro3960His) c.11954C>A (p.Pro3985His) n.1456C>A c.*142-459G>T (n.*142-459G>T) c.*142-2258G>T (n.*142-2258G>T) c.11951C>A (p.Pro3984His) c.11876C>A (p.Pro3959His) c.11576C>A (p.Pro3859His) c.8840C>A (p.Pro2947His) c.7733C>A (p.Pro2578His) c.11759C>A (p.Pro3920His) c.7511C>A (p.Pro2504His) c.10739C>A (p.Pro3580His) | |
8 | g.99875551C>G | CA371795863 | COX6C,VPS13B | c.*1608C>G (n.*1608C>G) n.12584C>G c.*7636C>G (n.*7636C>G) c.11879C>G (p.Pro3960Arg) c.11954C>G (p.Pro3985Arg) n.1456C>G c.*142-459G>C (n.*142-459G>C) c.*142-2258G>C (n.*142-2258G>C) c.11951C>G (p.Pro3984Arg) c.11876C>G (p.Pro3959Arg) c.11576C>G (p.Pro3859Arg) c.8840C>G (p.Pro2947Arg) c.7733C>G (p.Pro2578Arg) c.11759C>G (p.Pro3920Arg) c.7511C>G (p.Pro2504Arg) c.10739C>G (p.Pro3580Arg) | |
8 | g.99875551C>T | CA371795865 | COX6C,VPS13B | c.*1608C>T (n.*1608C>T) n.12584C>T c.*7636C>T (n.*7636C>T) c.11879C>T (p.Pro3960Leu) c.11954C>T (p.Pro3985Leu) n.1456C>T c.*142-459G>A (n.*142-459G>A) c.*142-2258G>A (n.*142-2258G>A) c.11951C>T (p.Pro3984Leu) c.11876C>T (p.Pro3959Leu) c.11576C>T (p.Pro3859Leu) c.8840C>T (p.Pro2947Leu) c.7733C>T (p.Pro2578Leu) c.11759C>T (p.Pro3920Leu) c.7511C>T (p.Pro2504Leu) c.10739C>T (p.Pro3580Leu) | |
8 | g.99875552T>A | CA462458535 | COX6C,VPS13B | c.*1609T>A (n.*1609T>A) n.12585T>A c.*7637T>A (n.*7637T>A) c.11880T>A (p.Pro3960=) c.11955T>A (p.Pro3985=) n.1457T>A c.*142-460A>T (n.*142-460A>T) c.*142-2259A>T (n.*142-2259A>T) c.11952T>A (p.Pro3984=) c.11877T>A (p.Pro3959=) c.11577T>A (p.Pro3859=) c.8841T>A (p.Pro2947=) c.7734T>A (p.Pro2578=) c.11760T>A (p.Pro3920=) c.7512T>A (p.Pro2504=) c.10740T>A (p.Pro3580=) | |
8 | g.99875552T>C | CA462458537 | COX6C,VPS13B | c.*1609T>C (n.*1609T>C) n.12585T>C c.*7637T>C (n.*7637T>C) c.11880T>C (p.Pro3960=) c.11955T>C (p.Pro3985=) n.1457T>C c.*142-460A>G (n.*142-460A>G) c.*142-2259A>G (n.*142-2259A>G) c.11952T>C (p.Pro3984=) c.11877T>C (p.Pro3959=) c.11577T>C (p.Pro3859=) c.8841T>C (p.Pro2947=) c.7734T>C (p.Pro2578=) c.11760T>C (p.Pro3920=) c.7512T>C (p.Pro2504=) c.10740T>C (p.Pro3580=) | ClinVar |
8 | g.99875552T>G | CA462458538 | COX6C,VPS13B | c.*1609T>G (n.*1609T>G) n.12585T>G c.*7637T>G (n.*7637T>G) c.11880T>G (p.Pro3960=) c.11955T>G (p.Pro3985=) n.1457T>G c.*142-460A>C (n.*142-460A>C) c.*142-2259A>C (n.*142-2259A>C) c.11952T>G (p.Pro3984=) c.11877T>G (p.Pro3959=) c.11577T>G (p.Pro3859=) c.8841T>G (p.Pro2947=) c.7734T>G (p.Pro2578=) c.11760T>G (p.Pro3920=) c.7512T>G (p.Pro2504=) c.10740T>G (p.Pro3580=) | |
8 | g.99875552dup | CA16041282 | COX6C,VPS13B | c.*1609dup (n.*1609dup) n.12585dup c.*7637dup (n.*7637dup) c.11880dup (p.Pro3961SerfsTer6) c.11955dup (p.Pro3986SerfsTer6) n.1457dup c.*142-460dup (n.*142-460dup) c.*142-2259dup (n.*142-2259dup) c.11952dup (p.Pro3985SerfsTer6) c.11877dup (p.Pro3960SerfsTer6) c.11577dup (p.Pro3860SerfsTer6) c.8841dup (p.Pro2948SerfsTer6) c.7734dup (p.Pro2579SerfsTer6) c.11760dup (p.Pro3921SerfsTer6) c.7512dup (p.Pro2505SerfsTer6) c.10740dup (p.Pro3581SerfsTer6) | ClinVar dbSNP gnomAD v4 |
8 | g.99875553C>A | CA371795867 | COX6C,VPS13B | c.*1610C>A (n.*1610C>A) n.12586C>A c.*7638C>A (n.*7638C>A) c.11881C>A (p.Pro3961Thr) c.11956C>A (p.Pro3986Thr) n.1458C>A c.*142-461G>T (n.*142-461G>T) c.*142-2260G>T (n.*142-2260G>T) c.11953C>A (p.Pro3985Thr) c.11878C>A (p.Pro3960Thr) c.11578C>A (p.Pro3860Thr) c.8842C>A (p.Pro2948Thr) c.7735C>A (p.Pro2579Thr) c.11761C>A (p.Pro3921Thr) c.7513C>A (p.Pro2505Thr) c.10741C>A (p.Pro3581Thr) | |
8 | g.99875553C>G | CA371795869 | COX6C,VPS13B | c.*1610C>G (n.*1610C>G) n.12586C>G c.*7638C>G (n.*7638C>G) c.11881C>G (p.Pro3961Ala) c.11956C>G (p.Pro3986Ala) n.1458C>G c.*142-461G>C (n.*142-461G>C) c.*142-2260G>C (n.*142-2260G>C) c.11953C>G (p.Pro3985Ala) c.11878C>G (p.Pro3960Ala) c.11578C>G (p.Pro3860Ala) c.8842C>G (p.Pro2948Ala) c.7735C>G (p.Pro2579Ala) c.11761C>G (p.Pro3921Ala) c.7513C>G (p.Pro2505Ala) c.10741C>G (p.Pro3581Ala) | ClinVar dbSNP gnomAD v4 |
8 | g.99875553C>T | CA4825361 | COX6C,VPS13B | c.*1610C>T (n.*1610C>T) n.12586C>T c.*7638C>T (n.*7638C>T) c.11881C>T (p.Pro3961Ser) c.11956C>T (p.Pro3986Ser) n.1458C>T c.*142-461G>A (n.*142-461G>A) c.*142-2260G>A (n.*142-2260G>A) c.11953C>T (p.Pro3985Ser) c.11878C>T (p.Pro3960Ser) c.11578C>T (p.Pro3860Ser) c.8842C>T (p.Pro2948Ser) c.7735C>T (p.Pro2579Ser) c.11761C>T (p.Pro3921Ser) c.7513C>T (p.Pro2505Ser) c.10741C>T (p.Pro3581Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875558dup | CA462458541 | COX6C,VPS13B | c.*1615dup (n.*1615dup) n.12591dup c.*7643dup (n.*7643dup) c.11886dup (p.Ser3963LeufsTer4) c.11961dup (p.Ser3988LeufsTer4) n.1463dup c.*142-461dup (n.*142-461dup) c.*142-2260dup (n.*142-2260dup) c.11958dup (p.Ser3987LeufsTer4) c.11883dup (p.Ser3962LeufsTer4) c.11583dup (p.Ser3862LeufsTer4) c.8847dup (p.Ser2950LeufsTer4) c.7740dup (p.Ser2581LeufsTer4) c.11766dup (p.Ser3923LeufsTer4) c.7518dup (p.Ser2507LeufsTer4) c.10746dup (p.Ser3583LeufsTer4) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.99875558del | CA645558540 | COX6C,VPS13B | c.*1615del (n.*1615del) n.12591del c.*7643del (n.*7643del) c.11886del (p.Ser3963ProfsTer25) c.11961del (p.Ser3988ProfsTer25) n.1463del c.*142-461del (n.*142-461del) c.*142-2260del (n.*142-2260del) c.11958del (p.Ser3987ProfsTer25) c.11883del (p.Ser3962ProfsTer25) c.11583del (p.Ser3862ProfsTer25) c.8847del (p.Ser2950ProfsTer25) c.7740del (p.Ser2581ProfsTer25) c.11766del (p.Ser3923ProfsTer25) c.7518del (p.Ser2507ProfsTer25) c.10746del (p.Ser3583ProfsTer25) | COSMIC COSMIC |
8 | g.99875554C>A | CA371795871 | COX6C,VPS13B | c.*1611C>A (n.*1611C>A) n.12587C>A c.*7639C>A (n.*7639C>A) c.11882C>A (p.Pro3961His) c.11957C>A (p.Pro3986His) n.1459C>A c.*142-462G>T (n.*142-462G>T) c.*142-2261G>T (n.*142-2261G>T) c.11954C>A (p.Pro3985His) c.11879C>A (p.Pro3960His) c.11579C>A (p.Pro3860His) c.8843C>A (p.Pro2948His) c.7736C>A (p.Pro2579His) c.11762C>A (p.Pro3921His) c.7514C>A (p.Pro2505His) c.10742C>A (p.Pro3581His) | |
8 | g.99875554C>G | CA4825362 | COX6C,VPS13B | c.*1611C>G (n.*1611C>G) n.12587C>G c.*7639C>G (n.*7639C>G) c.11882C>G (p.Pro3961Arg) c.11957C>G (p.Pro3986Arg) n.1459C>G c.*142-462G>C (n.*142-462G>C) c.*142-2261G>C (n.*142-2261G>C) c.11954C>G (p.Pro3985Arg) c.11879C>G (p.Pro3960Arg) c.11579C>G (p.Pro3860Arg) c.8843C>G (p.Pro2948Arg) c.7736C>G (p.Pro2579Arg) c.11762C>G (p.Pro3921Arg) c.7514C>G (p.Pro2505Arg) c.10742C>G (p.Pro3581Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875554C>T | CA4825363 | COX6C,VPS13B | c.*1611C>T (n.*1611C>T) n.12587C>T c.*7639C>T (n.*7639C>T) c.11882C>T (p.Pro3961Leu) c.11957C>T (p.Pro3986Leu) n.1459C>T c.*142-462G>A (n.*142-462G>A) c.*142-2261G>A (n.*142-2261G>A) c.11954C>T (p.Pro3985Leu) c.11879C>T (p.Pro3960Leu) c.11579C>T (p.Pro3860Leu) c.8843C>T (p.Pro2948Leu) c.7736C>T (p.Pro2579Leu) c.11762C>T (p.Pro3921Leu) c.7514C>T (p.Pro2505Leu) c.10742C>T (p.Pro3581Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875555C>A | CA462458544 | COX6C,VPS13B | c.*1612C>A (n.*1612C>A) n.12588C>A c.*7640C>A (n.*7640C>A) c.11883C>A (p.Pro3961=) c.11958C>A (p.Pro3986=) n.1460C>A c.*142-463G>T (n.*142-463G>T) c.*142-2262G>T (n.*142-2262G>T) c.11955C>A (p.Pro3985=) c.11880C>A (p.Pro3960=) c.11580C>A (p.Pro3860=) c.8844C>A (p.Pro2948=) c.7737C>A (p.Pro2579=) c.11763C>A (p.Pro3921=) c.7515C>A (p.Pro2505=) c.10743C>A (p.Pro3581=) | |
8 | g.99875555C>G | CA4825364 | COX6C,VPS13B | c.*1612C>G (n.*1612C>G) n.12588C>G c.*7640C>G (n.*7640C>G) c.11883C>G (p.Pro3961=) c.11958C>G (p.Pro3986=) n.1460C>G c.*142-463G>C (n.*142-463G>C) c.*142-2262G>C (n.*142-2262G>C) c.11955C>G (p.Pro3985=) c.11880C>G (p.Pro3960=) c.11580C>G (p.Pro3860=) c.8844C>G (p.Pro2948=) c.7737C>G (p.Pro2579=) c.11763C>G (p.Pro3921=) c.7515C>G (p.Pro2505=) c.10743C>G (p.Pro3581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875555C>T | CA462458546 | COX6C,VPS13B | c.*1612C>T (n.*1612C>T) n.12588C>T c.*7640C>T (n.*7640C>T) c.11883C>T (p.Pro3961=) c.11958C>T (p.Pro3986=) n.1460C>T c.*142-463G>A (n.*142-463G>A) c.*142-2262G>A (n.*142-2262G>A) c.11955C>T (p.Pro3985=) c.11880C>T (p.Pro3960=) c.11580C>T (p.Pro3860=) c.8844C>T (p.Pro2948=) c.7737C>T (p.Pro2579=) c.11763C>T (p.Pro3921=) c.7515C>T (p.Pro2505=) c.10743C>T (p.Pro3581=) | gnomAD v4 |
8 | g.99875556C>A | CA371795875 | COX6C,VPS13B | c.*1613C>A (n.*1613C>A) n.12589C>A c.*7641C>A (n.*7641C>A) c.11884C>A (p.Pro3962Thr) c.11959C>A (p.Pro3987Thr) n.1461C>A c.*142-464G>T (n.*142-464G>T) c.*142-2263G>T (n.*142-2263G>T) c.11956C>A (p.Pro3986Thr) c.11881C>A (p.Pro3961Thr) c.11581C>A (p.Pro3861Thr) c.8845C>A (p.Pro2949Thr) c.7738C>A (p.Pro2580Thr) c.11764C>A (p.Pro3922Thr) c.7516C>A (p.Pro2506Thr) c.10744C>A (p.Pro3582Thr) | gnomAD v4 |
8 | g.99875556C>G | CA4825365 | COX6C,VPS13B | c.*1613C>G (n.*1613C>G) n.12589C>G c.*7641C>G (n.*7641C>G) c.11884C>G (p.Pro3962Ala) c.11959C>G (p.Pro3987Ala) n.1461C>G c.*142-464G>C (n.*142-464G>C) c.*142-2263G>C (n.*142-2263G>C) c.11956C>G (p.Pro3986Ala) c.11881C>G (p.Pro3961Ala) c.11581C>G (p.Pro3861Ala) c.8845C>G (p.Pro2949Ala) c.7738C>G (p.Pro2580Ala) c.11764C>G (p.Pro3922Ala) c.7516C>G (p.Pro2506Ala) c.10744C>G (p.Pro3582Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875556C>T | CA371795879 | COX6C,VPS13B | c.*1613C>T (n.*1613C>T) n.12589C>T c.*7641C>T (n.*7641C>T) c.11884C>T (p.Pro3962Ser) c.11959C>T (p.Pro3987Ser) n.1461C>T c.*142-464G>A (n.*142-464G>A) c.*142-2263G>A (n.*142-2263G>A) c.11956C>T (p.Pro3986Ser) c.11881C>T (p.Pro3961Ser) c.11581C>T (p.Pro3861Ser) c.8845C>T (p.Pro2949Ser) c.7738C>T (p.Pro2580Ser) c.11764C>T (p.Pro3922Ser) c.7516C>T (p.Pro2506Ser) c.10744C>T (p.Pro3582Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.99875557C>A | CA235254 | COX6C,VPS13B | c.*1614C>A (n.*1614C>A) n.12590C>A c.*7642C>A (n.*7642C>A) c.11885C>A (p.Pro3962His) c.11960C>A (p.Pro3987His) n.1462C>A c.*142-465G>T (n.*142-465G>T) c.*142-2264G>T (n.*142-2264G>T) c.11957C>A (p.Pro3986His) c.11882C>A (p.Pro3961His) c.11582C>A (p.Pro3861His) c.8846C>A (p.Pro2949His) c.7739C>A (p.Pro2580His) c.11765C>A (p.Pro3922His) c.7517C>A (p.Pro2506His) c.10745C>A (p.Pro3582His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875557C>G | CA4825367 | COX6C,VPS13B | c.*1614C>G (n.*1614C>G) n.12590C>G c.*7642C>G (n.*7642C>G) c.11885C>G (p.Pro3962Arg) c.11960C>G (p.Pro3987Arg) n.1462C>G c.*142-465G>C (n.*142-465G>C) c.*142-2264G>C (n.*142-2264G>C) c.11957C>G (p.Pro3986Arg) c.11882C>G (p.Pro3961Arg) c.11582C>G (p.Pro3861Arg) c.8846C>G (p.Pro2949Arg) c.7739C>G (p.Pro2580Arg) c.11765C>G (p.Pro3922Arg) c.7517C>G (p.Pro2506Arg) c.10745C>G (p.Pro3582Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875557C>T | CA371795882 | COX6C,VPS13B | c.*1614C>T (n.*1614C>T) n.12590C>T c.*7642C>T (n.*7642C>T) c.11885C>T (p.Pro3962Leu) c.11960C>T (p.Pro3987Leu) n.1462C>T c.*142-465G>A (n.*142-465G>A) c.*142-2264G>A (n.*142-2264G>A) c.11957C>T (p.Pro3986Leu) c.11882C>T (p.Pro3961Leu) c.11582C>T (p.Pro3861Leu) c.8846C>T (p.Pro2949Leu) c.7739C>T (p.Pro2580Leu) c.11765C>T (p.Pro3922Leu) c.7517C>T (p.Pro2506Leu) c.10745C>T (p.Pro3582Leu) | dbSNP gnomAD v4 |
8 | g.99875559_99875561dup | CA2688072597 | COX6C,VPS13B | c.*1616_*1618dup (n.*1616_*1618dup) n.12592_12594dup c.*7644_*7646dup (n.*7644_*7646dup) c.11887_11889dup (p.Ser3963_Thr3964insSer) c.11962_11964dup (p.Ser3988_Thr3989insSer) n.1464_1466dup c.*142-467_*142-465dup (n.*142-467_*142-465dup) c.*142-2266_*142-2264dup (n.*142-2266_*142-2264dup) c.11959_11961dup (p.Ser3987_Thr3988insSer) c.11884_11886dup (p.Ser3962_Thr3963insSer) c.11584_11586dup (p.Ser3862_Thr3863insSer) c.8848_8850dup (p.Ser2950_Thr2951insSer) c.7741_7743dup (p.Ser2581_Thr2582insSer) c.11767_11769dup (p.Ser3923_Thr3924insSer) c.7519_7521dup (p.Ser2507_Thr2508insSer) c.10747_10749dup (p.Ser3583_Thr3584insSer) | gnomAD v4 |
8 | g.99875559_99875561del | CA4825366 | COX6C,VPS13B | c.*1616_*1618del (n.*1616_*1618del) n.12592_12594del c.*7644_*7646del (n.*7644_*7646del) c.11887_11889del (p.Ser3963del) c.11962_11964del (p.Ser3988del) n.1464_1466del c.*142-467_*142-465del (n.*142-467_*142-465del) c.*142-2266_*142-2264del (n.*142-2266_*142-2264del) c.11959_11961del (p.Ser3987del) c.11884_11886del (p.Ser3962del) c.11584_11586del (p.Ser3862del) c.8848_8850del (p.Ser2950del) c.7741_7743del (p.Ser2581del) c.11767_11769del (p.Ser3923del) c.7519_7521del (p.Ser2507del) c.10747_10749del (p.Ser3583del) | dbSNP ExAC gnomAD v2 |
8 | g.99875558C>A | CA462458553 | COX6C,VPS13B | c.*1615C>A (n.*1615C>A) n.12591C>A c.*7643C>A (n.*7643C>A) c.11886C>A (p.Pro3962=) c.11961C>A (p.Pro3987=) n.1463C>A c.*142-466G>T (n.*142-466G>T) c.*142-2265G>T (n.*142-2265G>T) c.11958C>A (p.Pro3986=) c.11883C>A (p.Pro3961=) c.11583C>A (p.Pro3861=) c.8847C>A (p.Pro2949=) c.7740C>A (p.Pro2580=) c.11766C>A (p.Pro3922=) c.7518C>A (p.Pro2506=) c.10746C>A (p.Pro3582=) | |
8 | g.99875558C>G | CA4825368 | COX6C,VPS13B | c.*1615C>G (n.*1615C>G) n.12591C>G c.*7643C>G (n.*7643C>G) c.11886C>G (p.Pro3962=) c.11961C>G (p.Pro3987=) n.1463C>G c.*142-466G>C (n.*142-466G>C) c.*142-2265G>C (n.*142-2265G>C) c.11958C>G (p.Pro3986=) c.11883C>G (p.Pro3961=) c.11583C>G (p.Pro3861=) c.8847C>G (p.Pro2949=) c.7740C>G (p.Pro2580=) c.11766C>G (p.Pro3922=) c.7518C>G (p.Pro2506=) c.10746C>G (p.Pro3582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875558C>T | CA462458554 | COX6C,VPS13B | c.*1615C>T (n.*1615C>T) n.12591C>T c.*7643C>T (n.*7643C>T) c.11886C>T (p.Pro3962=) c.11961C>T (p.Pro3987=) n.1463C>T c.*142-466G>A (n.*142-466G>A) c.*142-2265G>A (n.*142-2265G>A) c.11958C>T (p.Pro3986=) c.11883C>T (p.Pro3961=) c.11583C>T (p.Pro3861=) c.8847C>T (p.Pro2949=) c.7740C>T (p.Pro2580=) c.11766C>T (p.Pro3922=) c.7518C>T (p.Pro2506=) c.10746C>T (p.Pro3582=) | |
8 | g.99875559T>A | CA371795887 | COX6C,VPS13B | c.*1616T>A (n.*1616T>A) n.12592T>A c.*7644T>A (n.*7644T>A) c.11887T>A (p.Ser3963Thr) c.11962T>A (p.Ser3988Thr) n.1464T>A c.*142-467A>T (n.*142-467A>T) c.*142-2266A>T (n.*142-2266A>T) c.11959T>A (p.Ser3987Thr) c.11884T>A (p.Ser3962Thr) c.11584T>A (p.Ser3862Thr) c.8848T>A (p.Ser2950Thr) c.7741T>A (p.Ser2581Thr) c.11767T>A (p.Ser3923Thr) c.7519T>A (p.Ser2507Thr) c.10747T>A (p.Ser3583Thr) | |
8 | g.99875559T>C | CA371795888 | COX6C,VPS13B | c.*1616T>C (n.*1616T>C) n.12592T>C c.*7644T>C (n.*7644T>C) c.11887T>C (p.Ser3963Pro) c.11962T>C (p.Ser3988Pro) n.1464T>C c.*142-467A>G (n.*142-467A>G) c.*142-2266A>G (n.*142-2266A>G) c.11959T>C (p.Ser3987Pro) c.11884T>C (p.Ser3962Pro) c.11584T>C (p.Ser3862Pro) c.8848T>C (p.Ser2950Pro) c.7741T>C (p.Ser2581Pro) c.11767T>C (p.Ser3923Pro) c.7519T>C (p.Ser2507Pro) c.10747T>C (p.Ser3583Pro) | |
8 | g.99875559T>G | CA371795890 | COX6C,VPS13B | c.*1616T>G (n.*1616T>G) n.12592T>G c.*7644T>G (n.*7644T>G) c.11887T>G (p.Ser3963Ala) c.11962T>G (p.Ser3988Ala) n.1464T>G c.*142-467A>C (n.*142-467A>C) c.*142-2266A>C (n.*142-2266A>C) c.11959T>G (p.Ser3987Ala) c.11884T>G (p.Ser3962Ala) c.11584T>G (p.Ser3862Ala) c.8848T>G (p.Ser2950Ala) c.7741T>G (p.Ser2581Ala) c.11767T>G (p.Ser3923Ala) c.7519T>G (p.Ser2507Ala) c.10747T>G (p.Ser3583Ala) | |
8 | g.99875560C>A | CA371795892 | COX6C,VPS13B | c.*1617C>A (n.*1617C>A) n.12593C>A c.*7645C>A (n.*7645C>A) c.11888C>A (p.Ser3963Tyr) c.11963C>A (p.Ser3988Tyr) n.1465C>A c.*142-468G>T (n.*142-468G>T) c.*142-2267G>T (n.*142-2267G>T) c.11960C>A (p.Ser3987Tyr) c.11885C>A (p.Ser3962Tyr) c.11585C>A (p.Ser3862Tyr) c.8849C>A (p.Ser2950Tyr) c.7742C>A (p.Ser2581Tyr) c.11768C>A (p.Ser3923Tyr) c.7520C>A (p.Ser2507Tyr) c.10748C>A (p.Ser3583Tyr) | |
8 | g.99875560C>G | CA371795894 | COX6C,VPS13B | c.*1617C>G (n.*1617C>G) n.12593C>G c.*7645C>G (n.*7645C>G) c.11888C>G (p.Ser3963Cys) c.11963C>G (p.Ser3988Cys) n.1465C>G c.*142-468G>C (n.*142-468G>C) c.*142-2267G>C (n.*142-2267G>C) c.11960C>G (p.Ser3987Cys) c.11885C>G (p.Ser3962Cys) c.11585C>G (p.Ser3862Cys) c.8849C>G (p.Ser2950Cys) c.7742C>G (p.Ser2581Cys) c.11768C>G (p.Ser3923Cys) c.7520C>G (p.Ser2507Cys) c.10748C>G (p.Ser3583Cys) | |
8 | g.99875560C>T | CA371795896 | COX6C,VPS13B | c.*1617C>T (n.*1617C>T) n.12593C>T c.*7645C>T (n.*7645C>T) c.11888C>T (p.Ser3963Phe) c.11963C>T (p.Ser3988Phe) n.1465C>T c.*142-468G>A (n.*142-468G>A) c.*142-2267G>A (n.*142-2267G>A) c.11960C>T (p.Ser3987Phe) c.11885C>T (p.Ser3962Phe) c.11585C>T (p.Ser3862Phe) c.8849C>T (p.Ser2950Phe) c.7742C>T (p.Ser2581Phe) c.11768C>T (p.Ser3923Phe) c.7520C>T (p.Ser2507Phe) c.10748C>T (p.Ser3583Phe) | gnomAD v4 COSMIC COSMIC |
8 | g.99875561C>A | CA462458559 | COX6C,VPS13B | c.*1618C>A (n.*1618C>A) n.12594C>A c.*7646C>A (n.*7646C>A) c.11889C>A (p.Ser3963=) c.11964C>A (p.Ser3988=) n.1466C>A c.*142-469G>T (n.*142-469G>T) c.*142-2268G>T (n.*142-2268G>T) c.11961C>A (p.Ser3987=) c.11886C>A (p.Ser3962=) c.11586C>A (p.Ser3862=) c.8850C>A (p.Ser2950=) c.7743C>A (p.Ser2581=) c.11769C>A (p.Ser3923=) c.7521C>A (p.Ser2507=) c.10749C>A (p.Ser3583=) | |
8 | g.99875561C>G | CA462458560 | COX6C,VPS13B | c.*1618C>G (n.*1618C>G) n.12594C>G c.*7646C>G (n.*7646C>G) c.11889C>G (p.Ser3963=) c.11964C>G (p.Ser3988=) n.1466C>G c.*142-469G>C (n.*142-469G>C) c.*142-2268G>C (n.*142-2268G>C) c.11961C>G (p.Ser3987=) c.11886C>G (p.Ser3962=) c.11586C>G (p.Ser3862=) c.8850C>G (p.Ser2950=) c.7743C>G (p.Ser2581=) c.11769C>G (p.Ser3923=) c.7521C>G (p.Ser2507=) c.10749C>G (p.Ser3583=) | |
8 | g.99875561C>T | CA4825369 | COX6C,VPS13B | c.*1618C>T (n.*1618C>T) n.12594C>T c.*7646C>T (n.*7646C>T) c.11889C>T (p.Ser3963=) c.11964C>T (p.Ser3988=) n.1466C>T c.*142-469G>A (n.*142-469G>A) c.*142-2268G>A (n.*142-2268G>A) c.11961C>T (p.Ser3987=) c.11886C>T (p.Ser3962=) c.11586C>T (p.Ser3862=) c.8850C>T (p.Ser2950=) c.7743C>T (p.Ser2581=) c.11769C>T (p.Ser3923=) c.7521C>T (p.Ser2507=) c.10749C>T (p.Ser3583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875562A>C | CA371795899 | COX6C,VPS13B | c.*1619A>C (n.*1619A>C) n.12595A>C c.*7647A>C (n.*7647A>C) c.11890A>C (p.Thr3964Pro) c.11965A>C (p.Thr3989Pro) n.1467A>C c.*142-470T>G (n.*142-470T>G) c.*142-2269T>G (n.*142-2269T>G) c.11962A>C (p.Thr3988Pro) c.11887A>C (p.Thr3963Pro) c.11587A>C (p.Thr3863Pro) c.8851A>C (p.Thr2951Pro) c.7744A>C (p.Thr2582Pro) c.11770A>C (p.Thr3924Pro) c.7522A>C (p.Thr2508Pro) c.10750A>C (p.Thr3584Pro) | |
8 | g.99875562A>G | CA371795901 | COX6C,VPS13B | c.*1619A>G (n.*1619A>G) n.12595A>G c.*7647A>G (n.*7647A>G) c.11890A>G (p.Thr3964Ala) c.11965A>G (p.Thr3989Ala) n.1467A>G c.*142-470T>C (n.*142-470T>C) c.*142-2269T>C (n.*142-2269T>C) c.11962A>G (p.Thr3988Ala) c.11887A>G (p.Thr3963Ala) c.11587A>G (p.Thr3863Ala) c.8851A>G (p.Thr2951Ala) c.7744A>G (p.Thr2582Ala) c.11770A>G (p.Thr3924Ala) c.7522A>G (p.Thr2508Ala) c.10750A>G (p.Thr3584Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875562A>T | CA371795903 | COX6C,VPS13B | c.*1619A>T (n.*1619A>T) n.12595A>T c.*7647A>T (n.*7647A>T) c.11890A>T (p.Thr3964Ser) c.11965A>T (p.Thr3989Ser) n.1467A>T c.*142-470T>A (n.*142-470T>A) c.*142-2269T>A (n.*142-2269T>A) c.11962A>T (p.Thr3988Ser) c.11887A>T (p.Thr3963Ser) c.11587A>T (p.Thr3863Ser) c.8851A>T (p.Thr2951Ser) c.7744A>T (p.Thr2582Ser) c.11770A>T (p.Thr3924Ser) c.7522A>T (p.Thr2508Ser) c.10750A>T (p.Thr3584Ser) | gnomAD v4 |
8 | g.99875564_99875582del | CA2688072639 | COX6C,VPS13B | c.*1621_*1639del (n.*1621_*1639del) n.12597_12615del c.*7649_*7667del (n.*7649_*7667del) c.11892_11910del (p.Val3965TrpfsTer17) c.11967_11985del (p.Val3990TrpfsTer17) n.1469_1487del c.*142-488_*142-470del (n.*142-488_*142-470del) c.*142-2287_*142-2269del (n.*142-2287_*142-2269del) c.11964_11982del (p.Val3989TrpfsTer17) c.11889_11907del (p.Val3964TrpfsTer17) c.11589_11607del (p.Val3864TrpfsTer17) c.8853_8871del (p.Val2952TrpfsTer17) c.7746_7764del (p.Val2583TrpfsTer17) c.11772_11790del (p.Val3925TrpfsTer17) c.7524_7542del (p.Val2509TrpfsTer17) c.10752_10770del (p.Val3585TrpfsTer17) | gnomAD v4 |
8 | g.99875563C>A | CA371795905 | COX6C,VPS13B | c.*1620C>A (n.*1620C>A) n.12596C>A c.*7648C>A (n.*7648C>A) c.11891C>A (p.Thr3964Asn) c.11966C>A (p.Thr3989Asn) n.1468C>A c.*142-471G>T (n.*142-471G>T) c.*142-2270G>T (n.*142-2270G>T) c.11963C>A (p.Thr3988Asn) c.11888C>A (p.Thr3963Asn) c.11588C>A (p.Thr3863Asn) c.8852C>A (p.Thr2951Asn) c.7745C>A (p.Thr2582Asn) c.11771C>A (p.Thr3924Asn) c.7523C>A (p.Thr2508Asn) c.10751C>A (p.Thr3584Asn) | dbSNP |
8 | g.99875563C>G | CA371795906 | COX6C,VPS13B | c.*1620C>G (n.*1620C>G) n.12596C>G c.*7648C>G (n.*7648C>G) c.11891C>G (p.Thr3964Ser) c.11966C>G (p.Thr3989Ser) n.1468C>G c.*142-471G>C (n.*142-471G>C) c.*142-2270G>C (n.*142-2270G>C) c.11963C>G (p.Thr3988Ser) c.11888C>G (p.Thr3963Ser) c.11588C>G (p.Thr3863Ser) c.8852C>G (p.Thr2951Ser) c.7745C>G (p.Thr2582Ser) c.11771C>G (p.Thr3924Ser) c.7523C>G (p.Thr2508Ser) c.10751C>G (p.Thr3584Ser) | |
8 | g.99875563C>T | CA371795908 | COX6C,VPS13B | c.*1620C>T (n.*1620C>T) n.12596C>T c.*7648C>T (n.*7648C>T) c.11891C>T (p.Thr3964Ile) c.11966C>T (p.Thr3989Ile) n.1468C>T c.*142-471G>A (n.*142-471G>A) c.*142-2270G>A (n.*142-2270G>A) c.11963C>T (p.Thr3988Ile) c.11888C>T (p.Thr3963Ile) c.11588C>T (p.Thr3863Ile) c.8852C>T (p.Thr2951Ile) c.7745C>T (p.Thr2582Ile) c.11771C>T (p.Thr3924Ile) c.7523C>T (p.Thr2508Ile) c.10751C>T (p.Thr3584Ile) | |
8 | g.99875563dup | CA913128159 | COX6C,VPS13B | c.*1620dup (n.*1620dup) n.12596dup c.*7648dup (n.*7648dup) c.11891dup (p.Val3965CysfsTer2) c.11966dup (p.Val3990CysfsTer2) n.1468dup c.*142-471dup (n.*142-471dup) c.*142-2270dup (n.*142-2270dup) c.11963dup (p.Val3989CysfsTer2) c.11888dup (p.Val3964CysfsTer2) c.11588dup (p.Val3864CysfsTer2) c.8852dup (p.Val2952CysfsTer2) c.7745dup (p.Val2583CysfsTer2) c.11771dup (p.Val3925CysfsTer2) c.7523dup (p.Val2509CysfsTer2) c.10751dup (p.Val3585CysfsTer2) | |
8 | g.99875564T>A | CA462458563 | COX6C,VPS13B | c.*1621T>A (n.*1621T>A) n.12597T>A c.*7649T>A (n.*7649T>A) c.11892T>A (p.Thr3964=) c.11967T>A (p.Thr3989=) n.1469T>A c.*142-472A>T (n.*142-472A>T) c.*142-2271A>T (n.*142-2271A>T) c.11964T>A (p.Thr3988=) c.11889T>A (p.Thr3963=) c.11589T>A (p.Thr3863=) c.8853T>A (p.Thr2951=) c.7746T>A (p.Thr2582=) c.11772T>A (p.Thr3924=) c.7524T>A (p.Thr2508=) c.10752T>A (p.Thr3584=) | |
8 | g.99875564T>C | CA462458566 | COX6C,VPS13B | c.*1621T>C (n.*1621T>C) n.12597T>C c.*7649T>C (n.*7649T>C) c.11892T>C (p.Thr3964=) c.11967T>C (p.Thr3989=) n.1469T>C c.*142-472A>G (n.*142-472A>G) c.*142-2271A>G (n.*142-2271A>G) c.11964T>C (p.Thr3988=) c.11889T>C (p.Thr3963=) c.11589T>C (p.Thr3863=) c.8853T>C (p.Thr2951=) c.7746T>C (p.Thr2582=) c.11772T>C (p.Thr3924=) c.7524T>C (p.Thr2508=) c.10752T>C (p.Thr3584=) | gnomAD v4 |
8 | g.99875564T>G | CA462458564 | COX6C,VPS13B | c.*1621T>G (n.*1621T>G) n.12597T>G c.*7649T>G (n.*7649T>G) c.11892T>G (p.Thr3964=) c.11967T>G (p.Thr3989=) n.1469T>G c.*142-472A>C (n.*142-472A>C) c.*142-2271A>C (n.*142-2271A>C) c.11964T>G (p.Thr3988=) c.11889T>G (p.Thr3963=) c.11589T>G (p.Thr3863=) c.8853T>G (p.Thr2951=) c.7746T>G (p.Thr2582=) c.11772T>G (p.Thr3924=) c.7524T>G (p.Thr2508=) c.10752T>G (p.Thr3584=) | |
8 | g.99875564_99875567dup | CA658821993 | COX6C,VPS13B | c.*1621_*1624dup (n.*1621_*1624dup) n.12597_12600dup c.*7649_*7652dup (n.*7649_*7652dup) c.11892_11895dup (p.Lys3966CysfsTer2) c.11967_11970dup (p.Lys3991CysfsTer2) n.1469_1472dup c.*142-475_*142-472dup (n.*142-475_*142-472dup) c.*142-2274_*142-2271dup (n.*142-2274_*142-2271dup) c.11964_11967dup (p.Lys3990CysfsTer2) c.11889_11892dup (p.Lys3965CysfsTer2) c.11589_11592dup (p.Lys3865CysfsTer2) c.8853_8856dup (p.Lys2953CysfsTer2) c.7746_7749dup (p.Lys2584CysfsTer2) c.11772_11775dup (p.Lys3926CysfsTer2) c.7524_7527dup (p.Lys2510CysfsTer2) c.10752_10755dup (p.Lys3586CysfsTer2) | ClinVar dbSNP |
8 | g.99875565G>A | CA371795914 | COX6C,VPS13B | c.*1622G>A (n.*1622G>A) n.12598G>A c.*7650G>A (n.*7650G>A) c.11893G>A (p.Val3965Ile) c.11968G>A (p.Val3990Ile) n.1470G>A c.*142-473C>T (n.*142-473C>T) c.*142-2272C>T (n.*142-2272C>T) c.11965G>A (p.Val3989Ile) c.11890G>A (p.Val3964Ile) c.11590G>A (p.Val3864Ile) c.8854G>A (p.Val2952Ile) c.7747G>A (p.Val2583Ile) c.11773G>A (p.Val3925Ile) c.7525G>A (p.Val2509Ile) c.10753G>A (p.Val3585Ile) | |
8 | g.99875565G>C | CA371795916 | COX6C,VPS13B | c.*1622G>C (n.*1622G>C) n.12598G>C c.*7650G>C (n.*7650G>C) c.11893G>C (p.Val3965Leu) c.11968G>C (p.Val3990Leu) n.1470G>C c.*142-473C>G (n.*142-473C>G) c.*142-2272C>G (n.*142-2272C>G) c.11965G>C (p.Val3989Leu) c.11890G>C (p.Val3964Leu) c.11590G>C (p.Val3864Leu) c.8854G>C (p.Val2952Leu) c.7747G>C (p.Val2583Leu) c.11773G>C (p.Val3925Leu) c.7525G>C (p.Val2509Leu) c.10753G>C (p.Val3585Leu) | |
8 | g.99875565G>T | CA371795910 | COX6C,VPS13B | c.*1622G>T (n.*1622G>T) n.12598G>T c.*7650G>T (n.*7650G>T) c.11893G>T (p.Val3965Phe) c.11968G>T (p.Val3990Phe) n.1470G>T c.*142-473C>A (n.*142-473C>A) c.*142-2272C>A (n.*142-2272C>A) c.11965G>T (p.Val3989Phe) c.11890G>T (p.Val3964Phe) c.11590G>T (p.Val3864Phe) c.8854G>T (p.Val2952Phe) c.7747G>T (p.Val2583Phe) c.11773G>T (p.Val3925Phe) c.7525G>T (p.Val2509Phe) c.10753G>T (p.Val3585Phe) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875565_99875568dup | CA4825370 | COX6C,VPS13B | c.*1622_*1625dup (n.*1622_*1625dup) n.12598_12601dup c.*7650_*7653dup (n.*7650_*7653dup) c.11893_11896dup (p.Lys3966SerfsTer2) c.11968_11971dup (p.Lys3991SerfsTer2) n.1470_1473dup c.*142-476_*142-473dup (n.*142-476_*142-473dup) c.*142-2275_*142-2272dup (n.*142-2275_*142-2272dup) c.11965_11968dup (p.Lys3990SerfsTer2) c.11890_11893dup (p.Lys3965SerfsTer2) c.11590_11593dup (p.Lys3865SerfsTer2) c.8854_8857dup (p.Lys2953SerfsTer2) c.7747_7750dup (p.Lys2584SerfsTer2) c.11773_11776dup (p.Lys3926SerfsTer2) c.7525_7528dup (p.Lys2510SerfsTer2) c.10753_10756dup (p.Lys3586SerfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875566T>A | CA371795918 | COX6C,VPS13B | c.*1623T>A (n.*1623T>A) n.12599T>A c.*7651T>A (n.*7651T>A) c.11894T>A (p.Val3965Asp) c.11969T>A (p.Val3990Asp) n.1471T>A c.*142-474A>T (n.*142-474A>T) c.*142-2273A>T (n.*142-2273A>T) c.11966T>A (p.Val3989Asp) c.11891T>A (p.Val3964Asp) c.11591T>A (p.Val3864Asp) c.8855T>A (p.Val2952Asp) c.7748T>A (p.Val2583Asp) c.11774T>A (p.Val3925Asp) c.7526T>A (p.Val2509Asp) c.10754T>A (p.Val3585Asp) | |
8 | g.99875566T>C | CA371795920 | COX6C,VPS13B | c.*1623T>C (n.*1623T>C) n.12599T>C c.*7651T>C (n.*7651T>C) c.11894T>C (p.Val3965Ala) c.11969T>C (p.Val3990Ala) n.1471T>C c.*142-474A>G (n.*142-474A>G) c.*142-2273A>G (n.*142-2273A>G) c.11966T>C (p.Val3989Ala) c.11891T>C (p.Val3964Ala) c.11591T>C (p.Val3864Ala) c.8855T>C (p.Val2952Ala) c.7748T>C (p.Val2583Ala) c.11774T>C (p.Val3925Ala) c.7526T>C (p.Val2509Ala) c.10754T>C (p.Val3585Ala) | |
8 | g.99875566T>G | CA371795921 | COX6C,VPS13B | c.*1623T>G (n.*1623T>G) n.12599T>G c.*7651T>G (n.*7651T>G) c.11894T>G (p.Val3965Gly) c.11969T>G (p.Val3990Gly) n.1471T>G c.*142-474A>C (n.*142-474A>C) c.*142-2273A>C (n.*142-2273A>C) c.11966T>G (p.Val3989Gly) c.11891T>G (p.Val3964Gly) c.11591T>G (p.Val3864Gly) c.8855T>G (p.Val2952Gly) c.7748T>G (p.Val2583Gly) c.11774T>G (p.Val3925Gly) c.7526T>G (p.Val2509Gly) c.10754T>G (p.Val3585Gly) | |
8 | g.99875567dup | CA913128160 | COX6C,VPS13B | c.*1624dup (n.*1624dup) n.12600dup c.*7652dup (n.*7652dup) c.11895dup (p.Lys3966Ter) c.11970dup (p.Lys3991Ter) n.1472dup c.*142-474dup (n.*142-474dup) c.*142-2273dup (n.*142-2273dup) c.11967dup (p.Lys3990Ter) c.11892dup (p.Lys3965Ter) c.11592dup (p.Lys3865Ter) c.8856dup (p.Lys2953Ter) c.7749dup (p.Lys2584Ter) c.11775dup (p.Lys3926Ter) c.7527dup (p.Lys2510Ter) c.10755dup (p.Lys3586Ter) | |
8 | g.99875566_99875567dup | CA2580079168 | COX6C,VPS13B | c.*1623_*1624dup (n.*1623_*1624dup) n.12599_12600dup c.*7651_*7652dup (n.*7651_*7652dup) c.11894_11895dup (p.Lys3966LeufsTer23) c.11969_11970dup (p.Lys3991LeufsTer23) n.1471_1472dup c.*142-475_*142-474dup (n.*142-475_*142-474dup) c.*142-2274_*142-2273dup (n.*142-2274_*142-2273dup) c.11966_11967dup (p.Lys3990LeufsTer23) c.11891_11892dup (p.Lys3965LeufsTer23) c.11591_11592dup (p.Lys3865LeufsTer23) c.8855_8856dup (p.Lys2953LeufsTer23) c.7748_7749dup (p.Lys2584LeufsTer23) c.11774_11775dup (p.Lys3926LeufsTer23) c.7526_7527dup (p.Lys2510LeufsTer23) c.10754_10755dup (p.Lys3586LeufsTer23) | ClinVar |
8 | g.99875567T>A | CA462458572 | COX6C,VPS13B | c.*1624T>A (n.*1624T>A) n.12600T>A c.*7652T>A (n.*7652T>A) c.11895T>A (p.Val3965=) c.11970T>A (p.Val3990=) n.1472T>A c.*142-475A>T (n.*142-475A>T) c.*142-2274A>T (n.*142-2274A>T) c.11967T>A (p.Val3989=) c.11892T>A (p.Val3964=) c.11592T>A (p.Val3864=) c.8856T>A (p.Val2952=) c.7749T>A (p.Val2583=) c.11775T>A (p.Val3925=) c.7527T>A (p.Val2509=) c.10755T>A (p.Val3585=) | ClinVar dbSNP gnomAD v4 |
8 | g.99875567T>C | CA182335417 | COX6C,VPS13B | c.*1624T>C (n.*1624T>C) n.12600T>C c.*7652T>C (n.*7652T>C) c.11895T>C (p.Val3965=) c.11970T>C (p.Val3990=) n.1472T>C c.*142-475A>G (n.*142-475A>G) c.*142-2274A>G (n.*142-2274A>G) c.11967T>C (p.Val3989=) c.11892T>C (p.Val3964=) c.11592T>C (p.Val3864=) c.8856T>C (p.Val2952=) c.7749T>C (p.Val2583=) c.11775T>C (p.Val3925=) c.7527T>C (p.Val2509=) c.10755T>C (p.Val3585=) | ClinVar dbSNP gnomAD v4 |
8 | g.99875567T>G | CA462458574 | COX6C,VPS13B | c.*1624T>G (n.*1624T>G) n.12600T>G c.*7652T>G (n.*7652T>G) c.11895T>G (p.Val3965=) c.11970T>G (p.Val3990=) n.1472T>G c.*142-475A>C (n.*142-475A>C) c.*142-2274A>C (n.*142-2274A>C) c.11967T>G (p.Val3989=) c.11892T>G (p.Val3964=) c.11592T>G (p.Val3864=) c.8856T>G (p.Val2952=) c.7749T>G (p.Val2583=) c.11775T>G (p.Val3925=) c.7527T>G (p.Val2509=) c.10755T>G (p.Val3585=) | gnomAD v4 |
8 | g.99875568_99875584dup | CA2579216519 | COX6C,VPS13B | c.*1625_*1641dup (n.*1625_*1641dup) n.12601_12617dup c.*7653_*7669dup (n.*7653_*7669dup) c.11896_11912dup (p.Val3972LysfsTer22) c.11971_11987dup (p.Val3997LysfsTer22) n.1473_1489dup c.*142-491_*142-475dup (n.*142-491_*142-475dup) c.*142-2290_*142-2274dup (n.*142-2290_*142-2274dup) c.11968_11984dup (p.Val3996LysfsTer22) c.11893_11909dup (p.Val3971LysfsTer22) c.11593_11609dup (p.Val3871LysfsTer22) c.8857_8873dup (p.Val2959LysfsTer22) c.7750_7766dup (p.Val2590LysfsTer22) c.11776_11792dup (p.Val3932LysfsTer22) c.7528_7544dup (p.Val2516LysfsTer22) c.10756_10772dup (p.Val3592LysfsTer22) | |
8 | g.99875568A>C | CA371795924 | COX6C,VPS13B | c.*1625A>C (n.*1625A>C) n.12601A>C c.*7653A>C (n.*7653A>C) c.11896A>C (p.Lys3966Gln) c.11971A>C (p.Lys3991Gln) n.1473A>C c.*142-476T>G (n.*142-476T>G) c.*142-2275T>G (n.*142-2275T>G) c.11968A>C (p.Lys3990Gln) c.11893A>C (p.Lys3965Gln) c.11593A>C (p.Lys3865Gln) c.8857A>C (p.Lys2953Gln) c.7750A>C (p.Lys2584Gln) c.11776A>C (p.Lys3926Gln) c.7528A>C (p.Lys2510Gln) c.10756A>C (p.Lys3586Gln) | |
8 | g.99875568A>G | CA371795926 | COX6C,VPS13B | c.*1625A>G (n.*1625A>G) n.12601A>G c.*7653A>G (n.*7653A>G) c.11896A>G (p.Lys3966Glu) c.11971A>G (p.Lys3991Glu) n.1473A>G c.*142-476T>C (n.*142-476T>C) c.*142-2275T>C (n.*142-2275T>C) c.11968A>G (p.Lys3990Glu) c.11893A>G (p.Lys3965Glu) c.11593A>G (p.Lys3865Glu) c.8857A>G (p.Lys2953Glu) c.7750A>G (p.Lys2584Glu) c.11776A>G (p.Lys3926Glu) c.7528A>G (p.Lys2510Glu) c.10756A>G (p.Lys3586Glu) | |
8 | g.99875568A>T | CA371795927 | COX6C,VPS13B | c.*1625A>T (n.*1625A>T) n.12601A>T c.*7653A>T (n.*7653A>T) c.11896A>T (p.Lys3966Ter) c.11971A>T (p.Lys3991Ter) n.1473A>T c.*142-476T>A (n.*142-476T>A) c.*142-2275T>A (n.*142-2275T>A) c.11968A>T (p.Lys3990Ter) c.11893A>T (p.Lys3965Ter) c.11593A>T (p.Lys3865Ter) c.8857A>T (p.Lys2953Ter) c.7750A>T (p.Lys2584Ter) c.11776A>T (p.Lys3926Ter) c.7528A>T (p.Lys2510Ter) c.10756A>T (p.Lys3586Ter) | |
8 | g.99875571dup | CA658821994 | COX6C,VPS13B | c.*1628dup (n.*1628dup) n.12604dup c.*7656dup (n.*7656dup) c.11899dup (p.Thr3967AsnfsTer7) c.11974dup (p.Thr3992AsnfsTer7) n.1476dup c.*142-476dup (n.*142-476dup) c.*142-2275dup (n.*142-2275dup) c.11971dup (p.Thr3991AsnfsTer7) c.11896dup (p.Thr3966AsnfsTer7) c.11596dup (p.Thr3866AsnfsTer7) c.8860dup (p.Thr2954AsnfsTer7) c.7753dup (p.Thr2585AsnfsTer7) c.11779dup (p.Thr3927AsnfsTer7) c.7531dup (p.Thr2511AsnfsTer7) c.10759dup (p.Thr3587AsnfsTer7) | ClinVar dbSNP gnomAD v4 |
8 | g.99875569A= | CA2837998686 | COX6C,VPS13B | c.*1626A= (n.*1626A=) n.12602A= c.*7654A= (n.*7654A=) c.11897A= (p.Lys3966=) c.11972A= (p.Lys3991=) n.1474A= c.*142-477T= (n.*142-477T=) c.*142-2276T= (n.*142-2276T=) c.11969A= (p.Lys3990=) c.11894A= (p.Lys3965=) c.11594A= (p.Lys3865=) c.8858A= (p.Lys2953=) c.7751A= (p.Lys2584=) c.11777A= (p.Lys3926=) c.7529A= (p.Lys2510=) c.10757A= (p.Lys3586=) | |
8 | g.99875569A>C | CA371795931 | COX6C,VPS13B | c.*1626A>C (n.*1626A>C) n.12602A>C c.*7654A>C (n.*7654A>C) c.11897A>C (p.Lys3966Thr) c.11972A>C (p.Lys3991Thr) n.1474A>C c.*142-477T>G (n.*142-477T>G) c.*142-2276T>G (n.*142-2276T>G) c.11969A>C (p.Lys3990Thr) c.11894A>C (p.Lys3965Thr) c.11594A>C (p.Lys3865Thr) c.8858A>C (p.Lys2953Thr) c.7751A>C (p.Lys2584Thr) c.11777A>C (p.Lys3926Thr) c.7529A>C (p.Lys2510Thr) c.10757A>C (p.Lys3586Thr) | |
8 | g.99875569A>G | CA371795933 | COX6C,VPS13B | c.*1626A>G (n.*1626A>G) n.12602A>G c.*7654A>G (n.*7654A>G) c.11897A>G (p.Lys3966Arg) c.11972A>G (p.Lys3991Arg) n.1474A>G c.*142-477T>C (n.*142-477T>C) c.*142-2276T>C (n.*142-2276T>C) c.11969A>G (p.Lys3990Arg) c.11894A>G (p.Lys3965Arg) c.11594A>G (p.Lys3865Arg) c.8858A>G (p.Lys2953Arg) c.7751A>G (p.Lys2584Arg) c.11777A>G (p.Lys3926Arg) c.7529A>G (p.Lys2510Arg) c.10757A>G (p.Lys3586Arg) | |
8 | g.99875569A>T | CA4825371 | COX6C,VPS13B | c.*1626A>T (n.*1626A>T) n.12602A>T c.*7654A>T (n.*7654A>T) c.11897A>T (p.Lys3966Ile) c.11972A>T (p.Lys3991Ile) n.1474A>T c.*142-477T>A (n.*142-477T>A) c.*142-2276T>A (n.*142-2276T>A) c.11969A>T (p.Lys3990Ile) c.11894A>T (p.Lys3965Ile) c.11594A>T (p.Lys3865Ile) c.8858A>T (p.Lys2953Ile) c.7751A>T (p.Lys2584Ile) c.11777A>T (p.Lys3926Ile) c.7529A>T (p.Lys2510Ile) c.10757A>T (p.Lys3586Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875570_99875573dup | CA182335419 | COX6C,VPS13B | c.*1627_*1630dup (n.*1627_*1630dup) n.12603_12606dup c.*7655_*7658dup (n.*7655_*7658dup) c.11898_11901dup (p.Tyr3968AsnfsTer7) c.11973_11976dup (p.Tyr3993AsnfsTer7) n.1475_1478dup c.*142-480_*142-477dup (n.*142-480_*142-477dup) c.*142-2279_*142-2276dup (n.*142-2279_*142-2276dup) c.11970_11973dup (p.Tyr3992AsnfsTer7) c.11895_11898dup (p.Tyr3967AsnfsTer7) c.11595_11598dup (p.Tyr3867AsnfsTer7) c.8859_8862dup (p.Tyr2955AsnfsTer7) c.7752_7755dup (p.Tyr2586AsnfsTer7) c.11778_11781dup (p.Tyr3928AsnfsTer7) c.7530_7533dup (p.Tyr2512AsnfsTer7) c.10758_10761dup (p.Tyr3588AsnfsTer7) | ClinVar dbSNP |
8 | g.99875570A>C | CA371795934 | COX6C,VPS13B | c.*1627A>C (n.*1627A>C) n.12603A>C c.*7655A>C (n.*7655A>C) c.11898A>C (p.Lys3966Asn) c.11973A>C (p.Lys3991Asn) n.1475A>C c.*142-478T>G (n.*142-478T>G) c.*142-2277T>G (n.*142-2277T>G) c.11970A>C (p.Lys3990Asn) c.11895A>C (p.Lys3965Asn) c.11595A>C (p.Lys3865Asn) c.8859A>C (p.Lys2953Asn) c.7752A>C (p.Lys2584Asn) c.11778A>C (p.Lys3926Asn) c.7530A>C (p.Lys2510Asn) c.10758A>C (p.Lys3586Asn) | |
8 | g.99875570A>G | CA462458581 | COX6C,VPS13B | c.*1627A>G (n.*1627A>G) n.12603A>G c.*7655A>G (n.*7655A>G) c.11898A>G (p.Lys3966=) c.11973A>G (p.Lys3991=) n.1475A>G c.*142-478T>C (n.*142-478T>C) c.*142-2277T>C (n.*142-2277T>C) c.11970A>G (p.Lys3990=) c.11895A>G (p.Lys3965=) c.11595A>G (p.Lys3865=) c.8859A>G (p.Lys2953=) c.7752A>G (p.Lys2584=) c.11778A>G (p.Lys3926=) c.7530A>G (p.Lys2510=) c.10758A>G (p.Lys3586=) | |
8 | g.99875570A>T | CA371795936 | COX6C,VPS13B | c.*1627A>T (n.*1627A>T) n.12603A>T c.*7655A>T (n.*7655A>T) c.11898A>T (p.Lys3966Asn) c.11973A>T (p.Lys3991Asn) n.1475A>T c.*142-478T>A (n.*142-478T>A) c.*142-2277T>A (n.*142-2277T>A) c.11970A>T (p.Lys3990Asn) c.11895A>T (p.Lys3965Asn) c.11595A>T (p.Lys3865Asn) c.8859A>T (p.Lys2953Asn) c.7752A>T (p.Lys2584Asn) c.11778A>T (p.Lys3926Asn) c.7530A>T (p.Lys2510Asn) c.10758A>T (p.Lys3586Asn) | |
8 | g.99875571A>C | CA371795941 | COX6C,VPS13B | c.*1628A>C (n.*1628A>C) n.12604A>C c.*7656A>C (n.*7656A>C) c.11899A>C (p.Thr3967Pro) c.11974A>C (p.Thr3992Pro) n.1476A>C c.*142-479T>G (n.*142-479T>G) c.*142-2278T>G (n.*142-2278T>G) c.11971A>C (p.Thr3991Pro) c.11896A>C (p.Thr3966Pro) c.11596A>C (p.Thr3866Pro) c.8860A>C (p.Thr2954Pro) c.7753A>C (p.Thr2585Pro) c.11779A>C (p.Thr3927Pro) c.7531A>C (p.Thr2511Pro) c.10759A>C (p.Thr3587Pro) | |
8 | g.99875571A>G | CA371795938 | COX6C,VPS13B | c.*1628A>G (n.*1628A>G) n.12604A>G c.*7656A>G (n.*7656A>G) c.11899A>G (p.Thr3967Ala) c.11974A>G (p.Thr3992Ala) n.1476A>G c.*142-479T>C (n.*142-479T>C) c.*142-2278T>C (n.*142-2278T>C) c.11971A>G (p.Thr3991Ala) c.11896A>G (p.Thr3966Ala) c.11596A>G (p.Thr3866Ala) c.8860A>G (p.Thr2954Ala) c.7753A>G (p.Thr2585Ala) c.11779A>G (p.Thr3927Ala) c.7531A>G (p.Thr2511Ala) c.10759A>G (p.Thr3587Ala) | |
8 | g.99875571A>T | CA371795940 | COX6C,VPS13B | c.*1628A>T (n.*1628A>T) n.12604A>T c.*7656A>T (n.*7656A>T) c.11899A>T (p.Thr3967Ser) c.11974A>T (p.Thr3992Ser) n.1476A>T c.*142-479T>A (n.*142-479T>A) c.*142-2278T>A (n.*142-2278T>A) c.11971A>T (p.Thr3991Ser) c.11896A>T (p.Thr3966Ser) c.11596A>T (p.Thr3866Ser) c.8860A>T (p.Thr2954Ser) c.7753A>T (p.Thr2585Ser) c.11779A>T (p.Thr3927Ser) c.7531A>T (p.Thr2511Ser) c.10759A>T (p.Thr3587Ser) | |
8 | g.99875573_99875576dup | CA658821995 | COX6C,VPS13B | c.*1630_*1633dup (n.*1630_*1633dup) n.12606_12609dup c.*7658_*7661dup (n.*7658_*7661dup) c.11901_11904dup (p.His3969IlefsTer6) c.11976_11979dup (p.His3994IlefsTer6) n.1478_1481dup c.*142-482_*142-479dup (n.*142-482_*142-479dup) c.*142-2281_*142-2278dup (n.*142-2281_*142-2278dup) c.11973_11976dup (p.His3993IlefsTer6) c.11898_11901dup (p.His3968IlefsTer6) c.11598_11601dup (p.His3868IlefsTer6) c.8862_8865dup (p.His2956IlefsTer6) c.7755_7758dup (p.His2587IlefsTer6) c.11781_11784dup (p.His3929IlefsTer6) c.7533_7536dup (p.His2513IlefsTer6) c.10761_10764dup (p.His3589IlefsTer6) | ClinVar dbSNP |
8 | g.99875572C>A | CA4825372 | COX6C,VPS13B | c.*1629C>A (n.*1629C>A) n.12605C>A c.*7657C>A (n.*7657C>A) c.11900C>A (p.Thr3967Lys) c.11975C>A (p.Thr3992Lys) n.1477C>A c.*142-480G>T (n.*142-480G>T) c.*142-2279G>T (n.*142-2279G>T) c.11972C>A (p.Thr3991Lys) c.11897C>A (p.Thr3966Lys) c.11597C>A (p.Thr3866Lys) c.8861C>A (p.Thr2954Lys) c.7754C>A (p.Thr2585Lys) c.11780C>A (p.Thr3927Lys) c.7532C>A (p.Thr2511Lys) c.10760C>A (p.Thr3587Lys) | dbSNP ExAC gnomAD v2 |
8 | g.99875572C>G | CA371795943 | COX6C,VPS13B | c.*1629C>G (n.*1629C>G) n.12605C>G c.*7657C>G (n.*7657C>G) c.11900C>G (p.Thr3967Arg) c.11975C>G (p.Thr3992Arg) n.1477C>G c.*142-480G>C (n.*142-480G>C) c.*142-2279G>C (n.*142-2279G>C) c.11972C>G (p.Thr3991Arg) c.11897C>G (p.Thr3966Arg) c.11597C>G (p.Thr3866Arg) c.8861C>G (p.Thr2954Arg) c.7754C>G (p.Thr2585Arg) c.11780C>G (p.Thr3927Arg) c.7532C>G (p.Thr2511Arg) c.10760C>G (p.Thr3587Arg) | |
8 | g.99875572C>T | CA371795945 | COX6C,VPS13B | c.*1629C>T (n.*1629C>T) n.12605C>T c.*7657C>T (n.*7657C>T) c.11900C>T (p.Thr3967Ile) c.11975C>T (p.Thr3992Ile) n.1477C>T c.*142-480G>A (n.*142-480G>A) c.*142-2279G>A (n.*142-2279G>A) c.11972C>T (p.Thr3991Ile) c.11897C>T (p.Thr3966Ile) c.11597C>T (p.Thr3866Ile) c.8861C>T (p.Thr2954Ile) c.7754C>T (p.Thr2585Ile) c.11780C>T (p.Thr3927Ile) c.7532C>T (p.Thr2511Ile) c.10760C>T (p.Thr3587Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99875573A>C | CA462458587 | COX6C,VPS13B | c.*1630A>C (n.*1630A>C) n.12606A>C c.*7658A>C (n.*7658A>C) c.11901A>C (p.Thr3967=) c.11976A>C (p.Thr3992=) n.1478A>C c.*142-481T>G (n.*142-481T>G) c.*142-2280T>G (n.*142-2280T>G) c.11973A>C (p.Thr3991=) c.11898A>C (p.Thr3966=) c.11598A>C (p.Thr3866=) c.8862A>C (p.Thr2954=) c.7755A>C (p.Thr2585=) c.11781A>C (p.Thr3927=) c.7533A>C (p.Thr2511=) c.10761A>C (p.Thr3587=) | |
8 | g.99875573A>G | CA462458588 | COX6C,VPS13B | c.*1630A>G (n.*1630A>G) n.12606A>G c.*7658A>G (n.*7658A>G) c.11901A>G (p.Thr3967=) c.11976A>G (p.Thr3992=) n.1478A>G c.*142-481T>C (n.*142-481T>C) c.*142-2280T>C (n.*142-2280T>C) c.11973A>G (p.Thr3991=) c.11898A>G (p.Thr3966=) c.11598A>G (p.Thr3866=) c.8862A>G (p.Thr2954=) c.7755A>G (p.Thr2585=) c.11781A>G (p.Thr3927=) c.7533A>G (p.Thr2511=) c.10761A>G (p.Thr3587=) | dbSNP |
8 | g.99875573A>T | CA462458586 | COX6C,VPS13B | c.*1630A>T (n.*1630A>T) n.12606A>T c.*7658A>T (n.*7658A>T) c.11901A>T (p.Thr3967=) c.11976A>T (p.Thr3992=) n.1478A>T c.*142-481T>A (n.*142-481T>A) c.*142-2280T>A (n.*142-2280T>A) c.11973A>T (p.Thr3991=) c.11898A>T (p.Thr3966=) c.11598A>T (p.Thr3866=) c.8862A>T (p.Thr2954=) c.7755A>T (p.Thr2585=) c.11781A>T (p.Thr3927=) c.7533A>T (p.Thr2511=) c.10761A>T (p.Thr3587=) | |
8 | g.99875573dup | CA913128161 | COX6C,VPS13B | c.*1630dup (n.*1630dup) n.12606dup c.*7658dup (n.*7658dup) c.11901dup (p.Tyr3968IlefsTer6) c.11976dup (p.Tyr3993IlefsTer6) n.1478dup c.*142-481dup (n.*142-481dup) c.*142-2280dup (n.*142-2280dup) c.11973dup (p.Tyr3992IlefsTer6) c.11898dup (p.Tyr3967IlefsTer6) c.11598dup (p.Tyr3867IlefsTer6) c.8862dup (p.Tyr2955IlefsTer6) c.7755dup (p.Tyr2586IlefsTer6) c.11781dup (p.Tyr3928IlefsTer6) c.7533dup (p.Tyr2512IlefsTer6) c.10761dup (p.Tyr3588IlefsTer6) | |
8 | g.99875574T>A | CA371795947 | COX6C,VPS13B | c.*1631T>A (n.*1631T>A) n.12607T>A c.*7659T>A (n.*7659T>A) c.11902T>A (p.Tyr3968Asn) c.11977T>A (p.Tyr3993Asn) n.1479T>A c.*142-482A>T (n.*142-482A>T) c.*142-2281A>T (n.*142-2281A>T) c.11974T>A (p.Tyr3992Asn) c.11899T>A (p.Tyr3967Asn) c.11599T>A (p.Tyr3867Asn) c.8863T>A (p.Tyr2955Asn) c.7756T>A (p.Tyr2586Asn) c.11782T>A (p.Tyr3928Asn) c.7534T>A (p.Tyr2512Asn) c.10762T>A (p.Tyr3588Asn) | |
8 | g.99875574T>C | CA371795949 | COX6C,VPS13B | c.*1631T>C (n.*1631T>C) n.12607T>C c.*7659T>C (n.*7659T>C) c.11902T>C (p.Tyr3968His) c.11977T>C (p.Tyr3993His) n.1479T>C c.*142-482A>G (n.*142-482A>G) c.*142-2281A>G (n.*142-2281A>G) c.11974T>C (p.Tyr3992His) c.11899T>C (p.Tyr3967His) c.11599T>C (p.Tyr3867His) c.8863T>C (p.Tyr2955His) c.7756T>C (p.Tyr2586His) c.11782T>C (p.Tyr3928His) c.7534T>C (p.Tyr2512His) c.10762T>C (p.Tyr3588His) | |
8 | g.99875574T>G | CA371795951 | COX6C,VPS13B | c.*1631T>G (n.*1631T>G) n.12607T>G c.*7659T>G (n.*7659T>G) c.11902T>G (p.Tyr3968Asp) c.11977T>G (p.Tyr3993Asp) n.1479T>G c.*142-482A>C (n.*142-482A>C) c.*142-2281A>C (n.*142-2281A>C) c.11974T>G (p.Tyr3992Asp) c.11899T>G (p.Tyr3967Asp) c.11599T>G (p.Tyr3867Asp) c.8863T>G (p.Tyr2955Asp) c.7756T>G (p.Tyr2586Asp) c.11782T>G (p.Tyr3928Asp) c.7534T>G (p.Tyr2512Asp) c.10762T>G (p.Tyr3588Asp) | |
8 | g.99875578_99875583dup | CA658821996 | COX6C,VPS13B | c.*1635_*1640dup (n.*1635_*1640dup) n.12611_12616dup c.*7663_*7668dup (n.*7663_*7668dup) c.11906_11911dup (p.Tyr3970_Leu3971insHisTyr) c.11981_11986dup (p.Tyr3995_Leu3996insHisTyr) n.1483_1488dup c.*142-487_*142-482dup (n.*142-487_*142-482dup) c.*142-2286_*142-2281dup (n.*142-2286_*142-2281dup) c.11978_11983dup (p.Tyr3994_Leu3995insHisTyr) c.11903_11908dup (p.Tyr3969_Leu3970insHisTyr) c.11603_11608dup (p.Tyr3869_Leu3870insHisTyr) c.8867_8872dup (p.Tyr2957_Leu2958insHisTyr) c.7760_7765dup (p.Tyr2588_Leu2589insHisTyr) c.11786_11791dup (p.Tyr3930_Leu3931insHisTyr) c.7538_7543dup (p.Tyr2514_Leu2515insHisTyr) c.10766_10771dup (p.Tyr3590_Leu3591insHisTyr) | ClinVar dbSNP gnomAD v4 |
8 | g.99875575A>C | CA371795952 | COX6C,VPS13B | c.*1632A>C (n.*1632A>C) n.12608A>C c.*7660A>C (n.*7660A>C) c.11903A>C (p.Tyr3968Ser) c.11978A>C (p.Tyr3993Ser) n.1480A>C c.*142-483T>G (n.*142-483T>G) c.*142-2282T>G (n.*142-2282T>G) c.11975A>C (p.Tyr3992Ser) c.11900A>C (p.Tyr3967Ser) c.11600A>C (p.Tyr3867Ser) c.8864A>C (p.Tyr2955Ser) c.7757A>C (p.Tyr2586Ser) c.11783A>C (p.Tyr3928Ser) c.7535A>C (p.Tyr2512Ser) c.10763A>C (p.Tyr3588Ser) | |
8 | g.99875575A>G | CA371795954 | COX6C,VPS13B | c.*1632A>G (n.*1632A>G) n.12608A>G c.*7660A>G (n.*7660A>G) c.11903A>G (p.Tyr3968Cys) c.11978A>G (p.Tyr3993Cys) n.1480A>G c.*142-483T>C (n.*142-483T>C) c.*142-2282T>C (n.*142-2282T>C) c.11975A>G (p.Tyr3992Cys) c.11900A>G (p.Tyr3967Cys) c.11600A>G (p.Tyr3867Cys) c.8864A>G (p.Tyr2955Cys) c.7757A>G (p.Tyr2586Cys) c.11783A>G (p.Tyr3928Cys) c.7535A>G (p.Tyr2512Cys) c.10763A>G (p.Tyr3588Cys) | dbSNP gnomAD v4 |
8 | g.99875575A>T | CA371795955 | COX6C,VPS13B | c.*1632A>T (n.*1632A>T) n.12608A>T c.*7660A>T (n.*7660A>T) c.11903A>T (p.Tyr3968Phe) c.11978A>T (p.Tyr3993Phe) n.1480A>T c.*142-483T>A (n.*142-483T>A) c.*142-2282T>A (n.*142-2282T>A) c.11975A>T (p.Tyr3992Phe) c.11900A>T (p.Tyr3967Phe) c.11600A>T (p.Tyr3867Phe) c.8864A>T (p.Tyr2955Phe) c.7757A>T (p.Tyr2586Phe) c.11783A>T (p.Tyr3928Phe) c.7535A>T (p.Tyr2512Phe) c.10763A>T (p.Tyr3588Phe) | |
8 | g.99875576_99875596dup | CA2688072703 | COX6C,VPS13B | c.*1633_*1653dup (n.*1633_*1653dup) n.12609_12629dup c.*7661_*7681dup (n.*7661_*7681dup) c.11904_11924dup (p.His3975_Phe3976insHisTyrLeuValAspProHis) c.11979_11999dup (p.His4000_Phe4001insHisTyrLeuValAspProHis) n.1481_1501dup c.*142-503_*142-483dup (n.*142-503_*142-483dup) c.*142-2302_*142-2282dup (n.*142-2302_*142-2282dup) c.11976_11996dup (p.His3999_Phe4000insHisTyrLeuValAspProHis) c.11901_11921dup (p.His3974_Phe3975insHisTyrLeuValAspProHis) c.11601_11621dup (p.His3874_Phe3875insHisTyrLeuValAspProHis) c.8865_8885dup (p.His2962_Phe2963insHisTyrLeuValAspProHis) c.7758_7778dup (p.His2593_Phe2594insHisTyrLeuValAspProHis) c.11784_11804dup (p.His3935_Phe3936insHisTyrLeuValAspProHis) c.7536_7556dup (p.His2519_Phe2520insHisTyrLeuValAspProHis) c.10764_10784dup (p.His3595_Phe3596insHisTyrLeuValAspProHis) | gnomAD v4 |
8 | g.99875576C>A | CA371795957 | COX6C,VPS13B | c.*1633C>A (n.*1633C>A) n.12609C>A c.*7661C>A (n.*7661C>A) c.11904C>A (p.Tyr3968Ter) c.11979C>A (p.Tyr3993Ter) n.1481C>A c.*142-484G>T (n.*142-484G>T) c.*142-2283G>T (n.*142-2283G>T) c.11976C>A (p.Tyr3992Ter) c.11901C>A (p.Tyr3967Ter) c.11601C>A (p.Tyr3867Ter) c.8865C>A (p.Tyr2955Ter) c.7758C>A (p.Tyr2586Ter) c.11784C>A (p.Tyr3928Ter) c.7536C>A (p.Tyr2512Ter) c.10764C>A (p.Tyr3588Ter) | |
8 | g.99875576C>G | CA371795959 | COX6C,VPS13B | c.*1633C>G (n.*1633C>G) n.12609C>G c.*7661C>G (n.*7661C>G) c.11904C>G (p.Tyr3968Ter) c.11979C>G (p.Tyr3993Ter) n.1481C>G c.*142-484G>C (n.*142-484G>C) c.*142-2283G>C (n.*142-2283G>C) c.11976C>G (p.Tyr3992Ter) c.11901C>G (p.Tyr3967Ter) c.11601C>G (p.Tyr3867Ter) c.8865C>G (p.Tyr2955Ter) c.7758C>G (p.Tyr2586Ter) c.11784C>G (p.Tyr3928Ter) c.7536C>G (p.Tyr2512Ter) c.10764C>G (p.Tyr3588Ter) | |
8 | g.99875576C>T | CA462458595 | COX6C,VPS13B | c.*1633C>T (n.*1633C>T) n.12609C>T c.*7661C>T (n.*7661C>T) c.11904C>T (p.Tyr3968=) c.11979C>T (p.Tyr3993=) n.1481C>T c.*142-484G>A (n.*142-484G>A) c.*142-2283G>A (n.*142-2283G>A) c.11976C>T (p.Tyr3992=) c.11901C>T (p.Tyr3967=) c.11601C>T (p.Tyr3867=) c.8865C>T (p.Tyr2955=) c.7758C>T (p.Tyr2586=) c.11784C>T (p.Tyr3928=) c.7536C>T (p.Tyr2512=) c.10764C>T (p.Tyr3588=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875576_99875580del | CA4825373 | COX6C,VPS13B | c.*1633_*1637del (n.*1633_*1637del) n.12609_12613del c.*7661_*7665del (n.*7661_*7665del) c.11904_11908del (p.Tyr3968Ter) c.11979_11983del (p.Tyr3993Ter) n.1481_1485del c.*142-488_*142-484del (n.*142-488_*142-484del) c.*142-2287_*142-2283del (n.*142-2287_*142-2283del) c.11976_11980del (p.Tyr3992Ter) c.11901_11905del (p.Tyr3967Ter) c.11601_11605del (p.Tyr3867Ter) c.8865_8869del (p.Tyr2955Ter) c.7758_7762del (p.Tyr2586Ter) c.11784_11788del (p.Tyr3928Ter) c.7536_7540del (p.Tyr2512Ter) c.10764_10768del (p.Tyr3588Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875577C>A | CA371795965 | COX6C,VPS13B | c.*1634C>A (n.*1634C>A) n.12610C>A c.*7662C>A (n.*7662C>A) c.11905C>A (p.His3969Asn) c.11980C>A (p.His3994Asn) n.1482C>A c.*142-485G>T (n.*142-485G>T) c.*142-2284G>T (n.*142-2284G>T) c.11977C>A (p.His3993Asn) c.11902C>A (p.His3968Asn) c.11602C>A (p.His3868Asn) c.8866C>A (p.His2956Asn) c.7759C>A (p.His2587Asn) c.11785C>A (p.His3929Asn) c.7537C>A (p.His2513Asn) c.10765C>A (p.His3589Asn) | |
8 | g.99875577C>G | CA371795961 | COX6C,VPS13B | c.*1634C>G (n.*1634C>G) n.12610C>G c.*7662C>G (n.*7662C>G) c.11905C>G (p.His3969Asp) c.11980C>G (p.His3994Asp) n.1482C>G c.*142-485G>C (n.*142-485G>C) c.*142-2284G>C (n.*142-2284G>C) c.11977C>G (p.His3993Asp) c.11902C>G (p.His3968Asp) c.11602C>G (p.His3868Asp) c.8866C>G (p.His2956Asp) c.7759C>G (p.His2587Asp) c.11785C>G (p.His3929Asp) c.7537C>G (p.His2513Asp) c.10765C>G (p.His3589Asp) | |
8 | g.99875577C>T | CA371795963 | COX6C,VPS13B | c.*1634C>T (n.*1634C>T) n.12610C>T c.*7662C>T (n.*7662C>T) c.11905C>T (p.His3969Tyr) c.11980C>T (p.His3994Tyr) n.1482C>T c.*142-485G>A (n.*142-485G>A) c.*142-2284G>A (n.*142-2284G>A) c.11977C>T (p.His3993Tyr) c.11902C>T (p.His3968Tyr) c.11602C>T (p.His3868Tyr) c.8866C>T (p.His2956Tyr) c.7759C>T (p.His2587Tyr) c.11785C>T (p.His3929Tyr) c.7537C>T (p.His2513Tyr) c.10765C>T (p.His3589Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875578A>C | CA182335434 | COX6C,VPS13B | c.*1635A>C (n.*1635A>C) n.12611A>C c.*7663A>C (n.*7663A>C) c.11906A>C (p.His3969Pro) c.11981A>C (p.His3994Pro) n.1483A>C c.*142-486T>G (n.*142-486T>G) c.*142-2285T>G (n.*142-2285T>G) c.11978A>C (p.His3993Pro) c.11903A>C (p.His3968Pro) c.11603A>C (p.His3868Pro) c.8867A>C (p.His2956Pro) c.7760A>C (p.His2587Pro) c.11786A>C (p.His3929Pro) c.7538A>C (p.His2513Pro) c.10766A>C (p.His3589Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875578A>G | CA371795969 | COX6C,VPS13B | c.*1635A>G (n.*1635A>G) n.12611A>G c.*7663A>G (n.*7663A>G) c.11906A>G (p.His3969Arg) c.11981A>G (p.His3994Arg) n.1483A>G c.*142-486T>C (n.*142-486T>C) c.*142-2285T>C (n.*142-2285T>C) c.11978A>G (p.His3993Arg) c.11903A>G (p.His3968Arg) c.11603A>G (p.His3868Arg) c.8867A>G (p.His2956Arg) c.7760A>G (p.His2587Arg) c.11786A>G (p.His3929Arg) c.7538A>G (p.His2513Arg) c.10766A>G (p.His3589Arg) | |
8 | g.99875578A>T | CA371795968 | COX6C,VPS13B | c.*1635A>T (n.*1635A>T) n.12611A>T c.*7663A>T (n.*7663A>T) c.11906A>T (p.His3969Leu) c.11981A>T (p.His3994Leu) n.1483A>T c.*142-486T>A (n.*142-486T>A) c.*142-2285T>A (n.*142-2285T>A) c.11978A>T (p.His3993Leu) c.11903A>T (p.His3968Leu) c.11603A>T (p.His3868Leu) c.8867A>T (p.His2956Leu) c.7760A>T (p.His2587Leu) c.11786A>T (p.His3929Leu) c.7538A>T (p.His2513Leu) c.10766A>T (p.His3589Leu) | |
8 | g.99875579T>A | CA371795971 | COX6C,VPS13B | c.*1636T>A (n.*1636T>A) n.12612T>A c.*7664T>A (n.*7664T>A) c.11907T>A (p.His3969Gln) c.11982T>A (p.His3994Gln) n.1484T>A c.*142-487A>T (n.*142-487A>T) c.*142-2286A>T (n.*142-2286A>T) c.11979T>A (p.His3993Gln) c.11904T>A (p.His3968Gln) c.11604T>A (p.His3868Gln) c.8868T>A (p.His2956Gln) c.7761T>A (p.His2587Gln) c.11787T>A (p.His3929Gln) c.7539T>A (p.His2513Gln) c.10767T>A (p.His3589Gln) | |
8 | g.99875579T>C | CA462458606 | COX6C,VPS13B | c.*1636T>C (n.*1636T>C) n.12612T>C c.*7664T>C (n.*7664T>C) c.11907T>C (p.His3969=) c.11982T>C (p.His3994=) n.1484T>C c.*142-487A>G (n.*142-487A>G) c.*142-2286A>G (n.*142-2286A>G) c.11979T>C (p.His3993=) c.11904T>C (p.His3968=) c.11604T>C (p.His3868=) c.8868T>C (p.His2956=) c.7761T>C (p.His2587=) c.11787T>C (p.His3929=) c.7539T>C (p.His2513=) c.10767T>C (p.His3589=) | gnomAD v4 |
8 | g.99875579T>G | CA371795973 | COX6C,VPS13B | c.*1636T>G (n.*1636T>G) n.12612T>G c.*7664T>G (n.*7664T>G) c.11907T>G (p.His3969Gln) c.11982T>G (p.His3994Gln) n.1484T>G c.*142-487A>C (n.*142-487A>C) c.*142-2286A>C (n.*142-2286A>C) c.11979T>G (p.His3993Gln) c.11904T>G (p.His3968Gln) c.11604T>G (p.His3868Gln) c.8868T>G (p.His2956Gln) c.7761T>G (p.His2587Gln) c.11787T>G (p.His3929Gln) c.7539T>G (p.His2513Gln) c.10767T>G (p.His3589Gln) | |
8 | g.99875579_99875580insG | CA658821997 | COX6C,VPS13B | c.*1636_*1637insG (n.*1636_*1637insG) n.12612_12613insG c.*7664_*7665insG (n.*7664_*7665insG) c.11907_11908insG (p.Tyr3970ValfsTer4) c.11982_11983insG (p.Tyr3995ValfsTer4) n.1484_1485insG c.*142-488_*142-487insC (n.*142-488_*142-487insC) c.*142-2287_*142-2286insC (n.*142-2287_*142-2286insC) c.11979_11980insG (p.Tyr3994ValfsTer4) c.11904_11905insG (p.Tyr3969ValfsTer4) c.11604_11605insG (p.Tyr3869ValfsTer4) c.8868_8869insG (p.Tyr2957ValfsTer4) c.7761_7762insG (p.Tyr2588ValfsTer4) c.11787_11788insG (p.Tyr3930ValfsTer4) c.7539_7540insG (p.Tyr2514ValfsTer4) c.10767_10768insG (p.Tyr3590ValfsTer4) | ClinVar dbSNP |
8 | g.99875580T>A | CA371795976 | COX6C,VPS13B | c.*1637T>A (n.*1637T>A) n.12613T>A c.*7665T>A (n.*7665T>A) c.11908T>A (p.Tyr3970Asn) c.11983T>A (p.Tyr3995Asn) n.1485T>A c.*142-488A>T (n.*142-488A>T) c.*142-2287A>T (n.*142-2287A>T) c.11980T>A (p.Tyr3994Asn) c.11905T>A (p.Tyr3969Asn) c.11605T>A (p.Tyr3869Asn) c.8869T>A (p.Tyr2957Asn) c.7762T>A (p.Tyr2588Asn) c.11788T>A (p.Tyr3930Asn) c.7540T>A (p.Tyr2514Asn) c.10768T>A (p.Tyr3590Asn) | |
8 | g.99875580T>C | CA371795977 | COX6C,VPS13B | c.*1637T>C (n.*1637T>C) n.12613T>C c.*7665T>C (n.*7665T>C) c.11908T>C (p.Tyr3970His) c.11983T>C (p.Tyr3995His) n.1485T>C c.*142-488A>G (n.*142-488A>G) c.*142-2287A>G (n.*142-2287A>G) c.11980T>C (p.Tyr3994His) c.11905T>C (p.Tyr3969His) c.11605T>C (p.Tyr3869His) c.8869T>C (p.Tyr2957His) c.7762T>C (p.Tyr2588His) c.11788T>C (p.Tyr3930His) c.7540T>C (p.Tyr2514His) c.10768T>C (p.Tyr3590His) | |
8 | g.99875580T>G | CA371795979 | COX6C,VPS13B | c.*1637T>G (n.*1637T>G) n.12613T>G c.*7665T>G (n.*7665T>G) c.11908T>G (p.Tyr3970Asp) c.11983T>G (p.Tyr3995Asp) n.1485T>G c.*142-488A>C (n.*142-488A>C) c.*142-2287A>C (n.*142-2287A>C) c.11980T>G (p.Tyr3994Asp) c.11905T>G (p.Tyr3969Asp) c.11605T>G (p.Tyr3869Asp) c.8869T>G (p.Tyr2957Asp) c.7762T>G (p.Tyr2588Asp) c.11788T>G (p.Tyr3930Asp) c.7540T>G (p.Tyr2514Asp) c.10768T>G (p.Tyr3590Asp) | |
8 | g.99875581A>C | CA371795982 | COX6C,VPS13B | c.*1638A>C (n.*1638A>C) n.12614A>C c.*7666A>C (n.*7666A>C) c.11909A>C (p.Tyr3970Ser) c.11984A>C (p.Tyr3995Ser) n.1486A>C c.*142-489T>G (n.*142-489T>G) c.*142-2288T>G (n.*142-2288T>G) c.11981A>C (p.Tyr3994Ser) c.11906A>C (p.Tyr3969Ser) c.11606A>C (p.Tyr3869Ser) c.8870A>C (p.Tyr2957Ser) c.7763A>C (p.Tyr2588Ser) c.11789A>C (p.Tyr3930Ser) c.7541A>C (p.Tyr2514Ser) c.10769A>C (p.Tyr3590Ser) | |
8 | g.99875581A>G | CA371795983 | COX6C,VPS13B | c.*1638A>G (n.*1638A>G) n.12614A>G c.*7666A>G (n.*7666A>G) c.11909A>G (p.Tyr3970Cys) c.11984A>G (p.Tyr3995Cys) n.1486A>G c.*142-489T>C (n.*142-489T>C) c.*142-2288T>C (n.*142-2288T>C) c.11981A>G (p.Tyr3994Cys) c.11906A>G (p.Tyr3969Cys) c.11606A>G (p.Tyr3869Cys) c.8870A>G (p.Tyr2957Cys) c.7763A>G (p.Tyr2588Cys) c.11789A>G (p.Tyr3930Cys) c.7541A>G (p.Tyr2514Cys) c.10769A>G (p.Tyr3590Cys) | |
8 | g.99875581A>T | CA371795984 | COX6C,VPS13B | c.*1638A>T (n.*1638A>T) n.12614A>T c.*7666A>T (n.*7666A>T) c.11909A>T (p.Tyr3970Phe) c.11984A>T (p.Tyr3995Phe) n.1486A>T c.*142-489T>A (n.*142-489T>A) c.*142-2288T>A (n.*142-2288T>A) c.11981A>T (p.Tyr3994Phe) c.11906A>T (p.Tyr3969Phe) c.11606A>T (p.Tyr3869Phe) c.8870A>T (p.Tyr2957Phe) c.7763A>T (p.Tyr2588Phe) c.11789A>T (p.Tyr3930Phe) c.7541A>T (p.Tyr2514Phe) c.10769A>T (p.Tyr3590Phe) | |
8 | g.99875582C>A | CA371795986 | COX6C,VPS13B | c.*1639C>A (n.*1639C>A) n.12615C>A c.*7667C>A (n.*7667C>A) c.11910C>A (p.Tyr3970Ter) c.11985C>A (p.Tyr3995Ter) n.1487C>A c.*142-490G>T (n.*142-490G>T) c.*142-2289G>T (n.*142-2289G>T) c.11982C>A (p.Tyr3994Ter) c.11907C>A (p.Tyr3969Ter) c.11607C>A (p.Tyr3869Ter) c.8871C>A (p.Tyr2957Ter) c.7764C>A (p.Tyr2588Ter) c.11790C>A (p.Tyr3930Ter) c.7542C>A (p.Tyr2514Ter) c.10770C>A (p.Tyr3590Ter) | |
8 | g.99875582C>G | CA371795988 | COX6C,VPS13B | c.*1639C>G (n.*1639C>G) n.12615C>G c.*7667C>G (n.*7667C>G) c.11910C>G (p.Tyr3970Ter) c.11985C>G (p.Tyr3995Ter) n.1487C>G c.*142-490G>C (n.*142-490G>C) c.*142-2289G>C (n.*142-2289G>C) c.11982C>G (p.Tyr3994Ter) c.11907C>G (p.Tyr3969Ter) c.11607C>G (p.Tyr3869Ter) c.8871C>G (p.Tyr2957Ter) c.7764C>G (p.Tyr2588Ter) c.11790C>G (p.Tyr3930Ter) c.7542C>G (p.Tyr2514Ter) c.10770C>G (p.Tyr3590Ter) | |
8 | g.99875582C>T | CA462458616 | COX6C,VPS13B | c.*1639C>T (n.*1639C>T) n.12615C>T c.*7667C>T (n.*7667C>T) c.11910C>T (p.Tyr3970=) c.11985C>T (p.Tyr3995=) n.1487C>T c.*142-490G>A (n.*142-490G>A) c.*142-2289G>A (n.*142-2289G>A) c.11982C>T (p.Tyr3994=) c.11907C>T (p.Tyr3969=) c.11607C>T (p.Tyr3869=) c.8871C>T (p.Tyr2957=) c.7764C>T (p.Tyr2588=) c.11790C>T (p.Tyr3930=) c.7542C>T (p.Tyr2514=) c.10770C>T (p.Tyr3590=) | dbSNP |
8 | g.99875583del | CA2688072706 | COX6C,VPS13B | c.*1640del (n.*1640del) n.12616del c.*7668del (n.*7668del) c.11911del (p.Leu3971TrpfsTer17) c.11986del (p.Leu3996TrpfsTer17) n.1488del c.*142-490del (n.*142-490del) c.*142-2289del (n.*142-2289del) c.11983del (p.Leu3995TrpfsTer17) c.11908del (p.Leu3970TrpfsTer17) c.11608del (p.Leu3870TrpfsTer17) c.8872del (p.Leu2958TrpfsTer17) c.7765del (p.Leu2589TrpfsTer17) c.11791del (p.Leu3931TrpfsTer17) c.7543del (p.Leu2515TrpfsTer17) c.10771del (p.Leu3591TrpfsTer17) | gnomAD v4 |
8 | g.99875583C>A | CA371795990 | COX6C,VPS13B | c.*1640C>A (n.*1640C>A) n.12616C>A c.*7668C>A (n.*7668C>A) c.11911C>A (p.Leu3971Met) c.11986C>A (p.Leu3996Met) n.1488C>A c.*142-491G>T (n.*142-491G>T) c.*142-2290G>T (n.*142-2290G>T) c.11983C>A (p.Leu3995Met) c.11908C>A (p.Leu3970Met) c.11608C>A (p.Leu3870Met) c.8872C>A (p.Leu2958Met) c.7765C>A (p.Leu2589Met) c.11791C>A (p.Leu3931Met) c.7543C>A (p.Leu2515Met) c.10771C>A (p.Leu3591Met) | |
8 | g.99875583C>G | CA371795991 | COX6C,VPS13B | c.*1640C>G (n.*1640C>G) n.12616C>G c.*7668C>G (n.*7668C>G) c.11911C>G (p.Leu3971Val) c.11986C>G (p.Leu3996Val) n.1488C>G c.*142-491G>C (n.*142-491G>C) c.*142-2290G>C (n.*142-2290G>C) c.11983C>G (p.Leu3995Val) c.11908C>G (p.Leu3970Val) c.11608C>G (p.Leu3870Val) c.8872C>G (p.Leu2958Val) c.7765C>G (p.Leu2589Val) c.11791C>G (p.Leu3931Val) c.7543C>G (p.Leu2515Val) c.10771C>G (p.Leu3591Val) | |
8 | g.99875583C>T | CA462458618 | COX6C,VPS13B | c.*1640C>T (n.*1640C>T) n.12616C>T c.*7668C>T (n.*7668C>T) c.11911C>T (p.Leu3971=) c.11986C>T (p.Leu3996=) n.1488C>T c.*142-491G>A (n.*142-491G>A) c.*142-2290G>A (n.*142-2290G>A) c.11983C>T (p.Leu3995=) c.11908C>T (p.Leu3970=) c.11608C>T (p.Leu3870=) c.8872C>T (p.Leu2958=) c.7765C>T (p.Leu2589=) c.11791C>T (p.Leu3931=) c.7543C>T (p.Leu2515=) c.10771C>T (p.Leu3591=) | ClinVar dbSNP gnomAD v4 |
8 | g.99875584T>A | CA371795997 | COX6C,VPS13B | c.*1641T>A (n.*1641T>A) n.12617T>A c.*7669T>A (n.*7669T>A) c.11912T>A (p.Leu3971Gln) c.11987T>A (p.Leu3996Gln) n.1489T>A c.*142-492A>T (n.*142-492A>T) c.*142-2291A>T (n.*142-2291A>T) c.11984T>A (p.Leu3995Gln) c.11909T>A (p.Leu3970Gln) c.11609T>A (p.Leu3870Gln) c.8873T>A (p.Leu2958Gln) c.7766T>A (p.Leu2589Gln) c.11792T>A (p.Leu3931Gln) c.7544T>A (p.Leu2515Gln) c.10772T>A (p.Leu3591Gln) | |
8 | g.99875584T>C | CA371795995 | COX6C,VPS13B | c.*1641T>C (n.*1641T>C) n.12617T>C c.*7669T>C (n.*7669T>C) c.11912T>C (p.Leu3971Pro) c.11987T>C (p.Leu3996Pro) n.1489T>C c.*142-492A>G (n.*142-492A>G) c.*142-2291A>G (n.*142-2291A>G) c.11984T>C (p.Leu3995Pro) c.11909T>C (p.Leu3970Pro) c.11609T>C (p.Leu3870Pro) c.8873T>C (p.Leu2958Pro) c.7766T>C (p.Leu2589Pro) c.11792T>C (p.Leu3931Pro) c.7544T>C (p.Leu2515Pro) c.10772T>C (p.Leu3591Pro) | ClinVar dbSNP |
8 | g.99875584T>G | CA371795994 | COX6C,VPS13B | c.*1641T>G (n.*1641T>G) n.12617T>G c.*7669T>G (n.*7669T>G) c.11912T>G (p.Leu3971Arg) c.11987T>G (p.Leu3996Arg) n.1489T>G c.*142-492A>C (n.*142-492A>C) c.*142-2291A>C (n.*142-2291A>C) c.11984T>G (p.Leu3995Arg) c.11909T>G (p.Leu3970Arg) c.11609T>G (p.Leu3870Arg) c.8873T>G (p.Leu2958Arg) c.7766T>G (p.Leu2589Arg) c.11792T>G (p.Leu3931Arg) c.7544T>G (p.Leu2515Arg) c.10772T>G (p.Leu3591Arg) | |
8 | g.99875585_99875598del | CA2688072707 | COX6C,VPS13B | c.*1642_*1655del (n.*1642_*1655del) n.12618_12631del c.*7670_*7683del (n.*7670_*7683del) c.11913_11926del (p.Val3972CysfsTer6) c.11988_12001del (p.Val3997CysfsTer6) n.1490_1503del c.*142-505_*142-492del (n.*142-505_*142-492del) c.*142-2304_*142-2291del (n.*142-2304_*142-2291del) c.11985_11998del (p.Val3996CysfsTer6) c.11910_11923del (p.Val3971CysfsTer6) c.11610_11623del (p.Val3871CysfsTer6) c.8874_8887del (p.Val2959CysfsTer6) c.7767_7780del (p.Val2590CysfsTer6) c.11793_11806del (p.Val3932CysfsTer6) c.7545_7558del (p.Val2516CysfsTer6) c.10773_10786del (p.Val3592CysfsTer6) | gnomAD v4 |
8 | g.99875585G>A | CA462458623 | COX6C,VPS13B | c.*1642G>A (n.*1642G>A) n.12618G>A c.*7670G>A (n.*7670G>A) c.11913G>A (p.Leu3971=) c.11988G>A (p.Leu3996=) n.1490G>A c.*142-493C>T (n.*142-493C>T) c.*142-2292C>T (n.*142-2292C>T) c.11985G>A (p.Leu3995=) c.11910G>A (p.Leu3970=) c.11610G>A (p.Leu3870=) c.8874G>A (p.Leu2958=) c.7767G>A (p.Leu2589=) c.11793G>A (p.Leu3931=) c.7545G>A (p.Leu2515=) c.10773G>A (p.Leu3591=) | |
8 | g.99875585G>C | CA4825374 | COX6C,VPS13B | c.*1642G>C (n.*1642G>C) n.12618G>C c.*7670G>C (n.*7670G>C) c.11913G>C (p.Leu3971=) c.11988G>C (p.Leu3996=) n.1490G>C c.*142-493C>G (n.*142-493C>G) c.*142-2292C>G (n.*142-2292C>G) c.11985G>C (p.Leu3995=) c.11910G>C (p.Leu3970=) c.11610G>C (p.Leu3870=) c.8874G>C (p.Leu2958=) c.7767G>C (p.Leu2589=) c.11793G>C (p.Leu3931=) c.7545G>C (p.Leu2515=) c.10773G>C (p.Leu3591=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875585G>T | CA462458625 | COX6C,VPS13B | c.*1642G>T (n.*1642G>T) n.12618G>T c.*7670G>T (n.*7670G>T) c.11913G>T (p.Leu3971=) c.11988G>T (p.Leu3996=) n.1490G>T c.*142-493C>A (n.*142-493C>A) c.*142-2292C>A (n.*142-2292C>A) c.11985G>T (p.Leu3995=) c.11910G>T (p.Leu3970=) c.11610G>T (p.Leu3870=) c.8874G>T (p.Leu2958=) c.7767G>T (p.Leu2589=) c.11793G>T (p.Leu3931=) c.7545G>T (p.Leu2515=) c.10773G>T (p.Leu3591=) | |
8 | g.99875586G>A | CA371796000 | COX6C,VPS13B | c.*1643G>A (n.*1643G>A) n.12619G>A c.*7671G>A (n.*7671G>A) c.11914G>A (p.Val3972Ile) c.11989G>A (p.Val3997Ile) n.1491G>A c.*142-494C>T (n.*142-494C>T) c.*142-2293C>T (n.*142-2293C>T) c.11986G>A (p.Val3996Ile) c.11911G>A (p.Val3971Ile) c.11611G>A (p.Val3871Ile) c.8875G>A (p.Val2959Ile) c.7768G>A (p.Val2590Ile) c.11794G>A (p.Val3932Ile) c.7546G>A (p.Val2516Ile) c.10774G>A (p.Val3592Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99875586G>C | CA371796002 | COX6C,VPS13B | c.*1643G>C (n.*1643G>C) n.12619G>C c.*7671G>C (n.*7671G>C) c.11914G>C (p.Val3972Leu) c.11989G>C (p.Val3997Leu) n.1491G>C c.*142-494C>G (n.*142-494C>G) c.*142-2293C>G (n.*142-2293C>G) c.11986G>C (p.Val3996Leu) c.11911G>C (p.Val3971Leu) c.11611G>C (p.Val3871Leu) c.8875G>C (p.Val2959Leu) c.7768G>C (p.Val2590Leu) c.11794G>C (p.Val3932Leu) c.7546G>C (p.Val2516Leu) c.10774G>C (p.Val3592Leu) | COSMIC COSMIC |
8 | g.99875586G>T | CA371796003 | COX6C,VPS13B | c.*1643G>T (n.*1643G>T) n.12619G>T c.*7671G>T (n.*7671G>T) c.11914G>T (p.Val3972Phe) c.11989G>T (p.Val3997Phe) n.1491G>T c.*142-494C>A (n.*142-494C>A) c.*142-2293C>A (n.*142-2293C>A) c.11986G>T (p.Val3996Phe) c.11911G>T (p.Val3971Phe) c.11611G>T (p.Val3871Phe) c.8875G>T (p.Val2959Phe) c.7768G>T (p.Val2590Phe) c.11794G>T (p.Val3932Phe) c.7546G>T (p.Val2516Phe) c.10774G>T (p.Val3592Phe) | |
8 | g.99875587T>A | CA371796005 | COX6C,VPS13B | c.*1644T>A (n.*1644T>A) n.12620T>A c.*7672T>A (n.*7672T>A) c.11915T>A (p.Val3972Asp) c.11990T>A (p.Val3997Asp) n.1492T>A c.*142-495A>T (n.*142-495A>T) c.*142-2294A>T (n.*142-2294A>T) c.11987T>A (p.Val3996Asp) c.11912T>A (p.Val3971Asp) c.11612T>A (p.Val3871Asp) c.8876T>A (p.Val2959Asp) c.7769T>A (p.Val2590Asp) c.11795T>A (p.Val3932Asp) c.7547T>A (p.Val2516Asp) c.10775T>A (p.Val3592Asp) | |
8 | g.99875587T>C | CA371796006 | COX6C,VPS13B | c.*1644T>C (n.*1644T>C) n.12620T>C c.*7672T>C (n.*7672T>C) c.11915T>C (p.Val3972Ala) c.11990T>C (p.Val3997Ala) n.1492T>C c.*142-495A>G (n.*142-495A>G) c.*142-2294A>G (n.*142-2294A>G) c.11987T>C (p.Val3996Ala) c.11912T>C (p.Val3971Ala) c.11612T>C (p.Val3871Ala) c.8876T>C (p.Val2959Ala) c.7769T>C (p.Val2590Ala) c.11795T>C (p.Val3932Ala) c.7547T>C (p.Val2516Ala) c.10775T>C (p.Val3592Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875587T>G | CA371796008 | COX6C,VPS13B | c.*1644T>G (n.*1644T>G) n.12620T>G c.*7672T>G (n.*7672T>G) c.11915T>G (p.Val3972Gly) c.11990T>G (p.Val3997Gly) n.1492T>G c.*142-495A>C (n.*142-495A>C) c.*142-2294A>C (n.*142-2294A>C) c.11987T>G (p.Val3996Gly) c.11912T>G (p.Val3971Gly) c.11612T>G (p.Val3871Gly) c.8876T>G (p.Val2959Gly) c.7769T>G (p.Val2590Gly) c.11795T>G (p.Val3932Gly) c.7547T>G (p.Val2516Gly) c.10775T>G (p.Val3592Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99875588dup | CA913128162 | COX6C,VPS13B | c.*1645dup (n.*1645dup) n.12621dup c.*7673dup (n.*7673dup) c.11916dup (p.Asp3973Ter) c.11991dup (p.Asp3998Ter) n.1493dup c.*142-495dup (n.*142-495dup) c.*142-2294dup (n.*142-2294dup) c.11988dup (p.Asp3997Ter) c.11913dup (p.Asp3972Ter) c.11613dup (p.Asp3872Ter) c.8877dup (p.Asp2960Ter) c.7770dup (p.Asp2591Ter) c.11796dup (p.Asp3933Ter) c.7548dup (p.Asp2517Ter) c.10776dup (p.Asp3593Ter) | |
8 | g.99875587_99875588insG | CA2838032676 | COX6C,VPS13B | c.*1644_*1645insG (n.*1644_*1645insG) n.12620_12621insG c.*7672_*7673insG (n.*7672_*7673insG) c.11915_11916insG (p.Asp3973Ter) c.11990_11991insG (p.Asp3998Ter) n.1492_1493insG c.*142-496_*142-495insC (n.*142-496_*142-495insC) c.*142-2295_*142-2294insC (n.*142-2295_*142-2294insC) c.11987_11988insG (p.Asp3997Ter) c.11912_11913insG (p.Asp3972Ter) c.11612_11613insG (p.Asp3872Ter) c.8876_8877insG (p.Asp2960Ter) c.7769_7770insG (p.Asp2591Ter) c.11795_11796insG (p.Asp3933Ter) c.7547_7548insG (p.Asp2517Ter) c.10775_10776insG (p.Asp3593Ter) | |
8 | g.99875588T>A | CA462458629 | COX6C,VPS13B | c.*1645T>A (n.*1645T>A) n.12621T>A c.*7673T>A (n.*7673T>A) c.11916T>A (p.Val3972=) c.11991T>A (p.Val3997=) n.1493T>A c.*142-496A>T (n.*142-496A>T) c.*142-2295A>T (n.*142-2295A>T) c.11988T>A (p.Val3996=) c.11913T>A (p.Val3971=) c.11613T>A (p.Val3871=) c.8877T>A (p.Val2959=) c.7770T>A (p.Val2590=) c.11796T>A (p.Val3932=) c.7548T>A (p.Val2516=) c.10776T>A (p.Val3592=) | |
8 | g.99875588T>C | CA462458630 | COX6C,VPS13B | c.*1645T>C (n.*1645T>C) n.12621T>C c.*7673T>C (n.*7673T>C) c.11916T>C (p.Val3972=) c.11991T>C (p.Val3997=) n.1493T>C c.*142-496A>G (n.*142-496A>G) c.*142-2295A>G (n.*142-2295A>G) c.11988T>C (p.Val3996=) c.11913T>C (p.Val3971=) c.11613T>C (p.Val3871=) c.8877T>C (p.Val2959=) c.7770T>C (p.Val2590=) c.11796T>C (p.Val3932=) c.7548T>C (p.Val2516=) c.10776T>C (p.Val3592=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875588T>G | CA462458631 | COX6C,VPS13B | c.*1645T>G (n.*1645T>G) n.12621T>G c.*7673T>G (n.*7673T>G) c.11916T>G (p.Val3972=) c.11991T>G (p.Val3997=) n.1493T>G c.*142-496A>C (n.*142-496A>C) c.*142-2295A>C (n.*142-2295A>C) c.11988T>G (p.Val3996=) c.11913T>G (p.Val3971=) c.11613T>G (p.Val3871=) c.8877T>G (p.Val2959=) c.7770T>G (p.Val2590=) c.11796T>G (p.Val3932=) c.7548T>G (p.Val2516=) c.10776T>G (p.Val3592=) | |
8 | g.99875589_99875591dup | CA658821998 | COX6C,VPS13B | c.*1646_*1648dup (n.*1646_*1648dup) n.12622_12624dup c.*7674_*7676dup (n.*7674_*7676dup) c.11917_11919dup (p.Asp3973_Pro3974insAsp) c.11992_11994dup (p.Asp3998_Pro3999insAsp) n.1494_1496dup c.*142-498_*142-496dup (n.*142-498_*142-496dup) c.*142-2297_*142-2295dup (n.*142-2297_*142-2295dup) c.11989_11991dup (p.Asp3997_Pro3998insAsp) c.11914_11916dup (p.Asp3972_Pro3973insAsp) c.11614_11616dup (p.Asp3872_Pro3873insAsp) c.8878_8880dup (p.Asp2960_Pro2961insAsp) c.7771_7773dup (p.Asp2591_Pro2592insAsp) c.11797_11799dup (p.Asp3933_Pro3934insAsp) c.7549_7551dup (p.Asp2517_Pro2518insAsp) c.10777_10779dup (p.Asp3593_Pro3594insAsp) | ClinVar dbSNP gnomAD v4 |
8 | g.99875589G>A | CA182335439 | COX6C,VPS13B | c.*1646G>A (n.*1646G>A) n.12622G>A c.*7674G>A (n.*7674G>A) c.11917G>A (p.Asp3973Asn) c.11992G>A (p.Asp3998Asn) n.1494G>A c.*142-497C>T (n.*142-497C>T) c.*142-2296C>T (n.*142-2296C>T) c.11989G>A (p.Asp3997Asn) c.11914G>A (p.Asp3972Asn) c.11614G>A (p.Asp3872Asn) c.8878G>A (p.Asp2960Asn) c.7771G>A (p.Asp2591Asn) c.11797G>A (p.Asp3933Asn) c.7549G>A (p.Asp2517Asn) c.10777G>A (p.Asp3593Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875589G>C | CA371796011 | COX6C,VPS13B | c.*1646G>C (n.*1646G>C) n.12622G>C c.*7674G>C (n.*7674G>C) c.11917G>C (p.Asp3973His) c.11992G>C (p.Asp3998His) n.1494G>C c.*142-497C>G (n.*142-497C>G) c.*142-2296C>G (n.*142-2296C>G) c.11989G>C (p.Asp3997His) c.11914G>C (p.Asp3972His) c.11614G>C (p.Asp3872His) c.8878G>C (p.Asp2960His) c.7771G>C (p.Asp2591His) c.11797G>C (p.Asp3933His) c.7549G>C (p.Asp2517His) c.10777G>C (p.Asp3593His) | |
8 | g.99875589G>T | CA371796013 | COX6C,VPS13B | c.*1646G>T (n.*1646G>T) n.12622G>T c.*7674G>T (n.*7674G>T) c.11917G>T (p.Asp3973Tyr) c.11992G>T (p.Asp3998Tyr) n.1494G>T c.*142-497C>A (n.*142-497C>A) c.*142-2296C>A (n.*142-2296C>A) c.11989G>T (p.Asp3997Tyr) c.11914G>T (p.Asp3972Tyr) c.11614G>T (p.Asp3872Tyr) c.8878G>T (p.Asp2960Tyr) c.7771G>T (p.Asp2591Tyr) c.11797G>T (p.Asp3933Tyr) c.7549G>T (p.Asp2517Tyr) c.10777G>T (p.Asp3593Tyr) | gnomAD v4 |
8 | g.99875590A>C | CA371796015 | COX6C,VPS13B | c.*1647A>C (n.*1647A>C) n.12623A>C c.*7675A>C (n.*7675A>C) c.11918A>C (p.Asp3973Ala) c.11993A>C (p.Asp3998Ala) n.1495A>C c.*142-498T>G (n.*142-498T>G) c.*142-2297T>G (n.*142-2297T>G) c.11990A>C (p.Asp3997Ala) c.11915A>C (p.Asp3972Ala) c.11615A>C (p.Asp3872Ala) c.8879A>C (p.Asp2960Ala) c.7772A>C (p.Asp2591Ala) c.11798A>C (p.Asp3933Ala) c.7550A>C (p.Asp2517Ala) c.10778A>C (p.Asp3593Ala) | |
8 | g.99875590A>G | CA371796017 | COX6C,VPS13B | c.*1647A>G (n.*1647A>G) n.12623A>G c.*7675A>G (n.*7675A>G) c.11918A>G (p.Asp3973Gly) c.11993A>G (p.Asp3998Gly) n.1495A>G c.*142-498T>C (n.*142-498T>C) c.*142-2297T>C (n.*142-2297T>C) c.11990A>G (p.Asp3997Gly) c.11915A>G (p.Asp3972Gly) c.11615A>G (p.Asp3872Gly) c.8879A>G (p.Asp2960Gly) c.7772A>G (p.Asp2591Gly) c.11798A>G (p.Asp3933Gly) c.7550A>G (p.Asp2517Gly) c.10778A>G (p.Asp3593Gly) | |
8 | g.99875590A>T | CA371796018 | COX6C,VPS13B | c.*1647A>T (n.*1647A>T) n.12623A>T c.*7675A>T (n.*7675A>T) c.11918A>T (p.Asp3973Val) c.11993A>T (p.Asp3998Val) n.1495A>T c.*142-498T>A (n.*142-498T>A) c.*142-2297T>A (n.*142-2297T>A) c.11990A>T (p.Asp3997Val) c.11915A>T (p.Asp3972Val) c.11615A>T (p.Asp3872Val) c.8879A>T (p.Asp2960Val) c.7772A>T (p.Asp2591Val) c.11798A>T (p.Asp3933Val) c.7550A>T (p.Asp2517Val) c.10778A>T (p.Asp3593Val) | |
8 | g.99875591T>A | CA371796021 | COX6C,VPS13B | c.*1648T>A (n.*1648T>A) n.12624T>A c.*7676T>A (n.*7676T>A) c.11919T>A (p.Asp3973Glu) c.11994T>A (p.Asp3998Glu) n.1496T>A c.*142-499A>T (n.*142-499A>T) c.*142-2298A>T (n.*142-2298A>T) c.11991T>A (p.Asp3997Glu) c.11916T>A (p.Asp3972Glu) c.11616T>A (p.Asp3872Glu) c.8880T>A (p.Asp2960Glu) c.7773T>A (p.Asp2591Glu) c.11799T>A (p.Asp3933Glu) c.7551T>A (p.Asp2517Glu) c.10779T>A (p.Asp3593Glu) | |
8 | g.99875591T>C | CA462458642 | COX6C,VPS13B | c.*1648T>C (n.*1648T>C) n.12624T>C c.*7676T>C (n.*7676T>C) c.11919T>C (p.Asp3973=) c.11994T>C (p.Asp3998=) n.1496T>C c.*142-499A>G (n.*142-499A>G) c.*142-2298A>G (n.*142-2298A>G) c.11991T>C (p.Asp3997=) c.11916T>C (p.Asp3972=) c.11616T>C (p.Asp3872=) c.8880T>C (p.Asp2960=) c.7773T>C (p.Asp2591=) c.11799T>C (p.Asp3933=) c.7551T>C (p.Asp2517=) c.10779T>C (p.Asp3593=) | |
8 | g.99875591T>G | CA182335445 | COX6C,VPS13B | c.*1648T>G (n.*1648T>G) n.12624T>G c.*7676T>G (n.*7676T>G) c.11919T>G (p.Asp3973Glu) c.11994T>G (p.Asp3998Glu) n.1496T>G c.*142-499A>C (n.*142-499A>C) c.*142-2298A>C (n.*142-2298A>C) c.11991T>G (p.Asp3997Glu) c.11916T>G (p.Asp3972Glu) c.11616T>G (p.Asp3872Glu) c.8880T>G (p.Asp2960Glu) c.7773T>G (p.Asp2591Glu) c.11799T>G (p.Asp3933Glu) c.7551T>G (p.Asp2517Glu) c.10779T>G (p.Asp3593Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875592C>A | CA371796023 | COX6C,VPS13B | c.*1649C>A (n.*1649C>A) n.12625C>A c.*7677C>A (n.*7677C>A) c.11920C>A (p.Pro3974Thr) c.11995C>A (p.Pro3999Thr) n.1497C>A c.*142-500G>T (n.*142-500G>T) c.*142-2299G>T (n.*142-2299G>T) c.11992C>A (p.Pro3998Thr) c.11917C>A (p.Pro3973Thr) c.11617C>A (p.Pro3873Thr) c.8881C>A (p.Pro2961Thr) c.7774C>A (p.Pro2592Thr) c.11800C>A (p.Pro3934Thr) c.7552C>A (p.Pro2518Thr) c.10780C>A (p.Pro3594Thr) | dbSNP |
8 | g.99875592C>G | CA4825375 | COX6C,VPS13B | c.*1649C>G (n.*1649C>G) n.12625C>G c.*7677C>G (n.*7677C>G) c.11920C>G (p.Pro3974Ala) c.11995C>G (p.Pro3999Ala) n.1497C>G c.*142-500G>C (n.*142-500G>C) c.*142-2299G>C (n.*142-2299G>C) c.11992C>G (p.Pro3998Ala) c.11917C>G (p.Pro3973Ala) c.11617C>G (p.Pro3873Ala) c.8881C>G (p.Pro2961Ala) c.7774C>G (p.Pro2592Ala) c.11800C>G (p.Pro3934Ala) c.7552C>G (p.Pro2518Ala) c.10780C>G (p.Pro3594Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875592C>T | CA371796026 | COX6C,VPS13B | c.*1649C>T (n.*1649C>T) n.12625C>T c.*7677C>T (n.*7677C>T) c.11920C>T (p.Pro3974Ser) c.11995C>T (p.Pro3999Ser) n.1497C>T c.*142-500G>A (n.*142-500G>A) c.*142-2299G>A (n.*142-2299G>A) c.11992C>T (p.Pro3998Ser) c.11917C>T (p.Pro3973Ser) c.11617C>T (p.Pro3873Ser) c.8881C>T (p.Pro2961Ser) c.7774C>T (p.Pro2592Ser) c.11800C>T (p.Pro3934Ser) c.7552C>T (p.Pro2518Ser) c.10780C>T (p.Pro3594Ser) | dbSNP |
8 | g.99875593C>A | CA371796028 | COX6C,VPS13B | c.*1650C>A (n.*1650C>A) n.12626C>A c.*7678C>A (n.*7678C>A) c.11921C>A (p.Pro3974Gln) c.11996C>A (p.Pro3999Gln) n.1498C>A c.*142-501G>T (n.*142-501G>T) c.*142-2300G>T (n.*142-2300G>T) c.11993C>A (p.Pro3998Gln) c.11918C>A (p.Pro3973Gln) c.11618C>A (p.Pro3873Gln) c.8882C>A (p.Pro2961Gln) c.7775C>A (p.Pro2592Gln) c.11801C>A (p.Pro3934Gln) c.7553C>A (p.Pro2518Gln) c.10781C>A (p.Pro3594Gln) | |
8 | g.99875593C>G | CA371796030 | COX6C,VPS13B | c.*1650C>G (n.*1650C>G) n.12626C>G c.*7678C>G (n.*7678C>G) c.11921C>G (p.Pro3974Arg) c.11996C>G (p.Pro3999Arg) n.1498C>G c.*142-501G>C (n.*142-501G>C) c.*142-2300G>C (n.*142-2300G>C) c.11993C>G (p.Pro3998Arg) c.11918C>G (p.Pro3973Arg) c.11618C>G (p.Pro3873Arg) c.8882C>G (p.Pro2961Arg) c.7775C>G (p.Pro2592Arg) c.11801C>G (p.Pro3934Arg) c.7553C>G (p.Pro2518Arg) c.10781C>G (p.Pro3594Arg) | |
8 | g.99875593C>T | CA371796031 | COX6C,VPS13B | c.*1650C>T (n.*1650C>T) n.12626C>T c.*7678C>T (n.*7678C>T) c.11921C>T (p.Pro3974Leu) c.11996C>T (p.Pro3999Leu) n.1498C>T c.*142-501G>A (n.*142-501G>A) c.*142-2300G>A (n.*142-2300G>A) c.11993C>T (p.Pro3998Leu) c.11918C>T (p.Pro3973Leu) c.11618C>T (p.Pro3873Leu) c.8882C>T (p.Pro2961Leu) c.7775C>T (p.Pro2592Leu) c.11801C>T (p.Pro3934Leu) c.7553C>T (p.Pro2518Leu) c.10781C>T (p.Pro3594Leu) | |
8 | g.99875594A>C | CA462458654 | COX6C,VPS13B | c.*1651A>C (n.*1651A>C) n.12627A>C c.*7679A>C (n.*7679A>C) c.11922A>C (p.Pro3974=) c.11997A>C (p.Pro3999=) n.1499A>C c.*142-502T>G (n.*142-502T>G) c.*142-2301T>G (n.*142-2301T>G) c.11994A>C (p.Pro3998=) c.11919A>C (p.Pro3973=) c.11619A>C (p.Pro3873=) c.8883A>C (p.Pro2961=) c.7776A>C (p.Pro2592=) c.11802A>C (p.Pro3934=) c.7554A>C (p.Pro2518=) c.10782A>C (p.Pro3594=) | |
8 | g.99875594A>G | CA462458653 | COX6C,VPS13B | c.*1651A>G (n.*1651A>G) n.12627A>G c.*7679A>G (n.*7679A>G) c.11922A>G (p.Pro3974=) c.11997A>G (p.Pro3999=) n.1499A>G c.*142-502T>C (n.*142-502T>C) c.*142-2301T>C (n.*142-2301T>C) c.11994A>G (p.Pro3998=) c.11919A>G (p.Pro3973=) c.11619A>G (p.Pro3873=) c.8883A>G (p.Pro2961=) c.7776A>G (p.Pro2592=) c.11802A>G (p.Pro3934=) c.7554A>G (p.Pro2518=) c.10782A>G (p.Pro3594=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875594A>T | CA462458652 | COX6C,VPS13B | c.*1651A>T (n.*1651A>T) n.12627A>T c.*7679A>T (n.*7679A>T) c.11922A>T (p.Pro3974=) c.11997A>T (p.Pro3999=) n.1499A>T c.*142-502T>A (n.*142-502T>A) c.*142-2301T>A (n.*142-2301T>A) c.11994A>T (p.Pro3998=) c.11919A>T (p.Pro3973=) c.11619A>T (p.Pro3873=) c.8883A>T (p.Pro2961=) c.7776A>T (p.Pro2592=) c.11802A>T (p.Pro3934=) c.7554A>T (p.Pro2518=) c.10782A>T (p.Pro3594=) | |
8 | g.99875594_99875595insAAAATAATAAA | CA2537568336 | COX6C,VPS13B | c.*1651_*1652insAAAATAATAAA (n.*1651_*1652insAAAATAATAAA) n.12627_12628insAAAATAATAAA c.*7679_*7680insAAAATAATAAA (n.*7679_*7680insAAAATAATAAA) c.11922_11923insAAAATAATAAA (p.His3975LysfsTer17) c.11997_11998insAAAATAATAAA (p.His4000LysfsTer17) n.1499_1500insAAAATAATAAA c.*142-502_*142-501insTTATTATTTTT (n.*142-502_*142-501insTTATTATTTTT) c.*142-2301_*142-2300insTTATTATTTTT (n.*142-2301_*142-2300insTTATTATTTTT) c.11994_11995insAAAATAATAAA (p.His3999LysfsTer17) c.11919_11920insAAAATAATAAA (p.His3974LysfsTer17) c.11619_11620insAAAATAATAAA (p.His3874LysfsTer17) c.8883_8884insAAAATAATAAA (p.His2962LysfsTer17) c.7776_7777insAAAATAATAAA (p.His2593LysfsTer17) c.11802_11803insAAAATAATAAA (p.His3935LysfsTer17) c.7554_7555insAAAATAATAAA (p.His2519LysfsTer17) c.10782_10783insAAAATAATAAA (p.His3595LysfsTer17) | |
8 | g.99875595C>A | CA371796036 | COX6C,VPS13B | c.*1652C>A (n.*1652C>A) n.12628C>A c.*7680C>A (n.*7680C>A) c.11923C>A (p.His3975Asn) c.11998C>A (p.His4000Asn) n.1500C>A c.*142-503G>T (n.*142-503G>T) c.*142-2302G>T (n.*142-2302G>T) c.11995C>A (p.His3999Asn) c.11920C>A (p.His3974Asn) c.11620C>A (p.His3874Asn) c.8884C>A (p.His2962Asn) c.7777C>A (p.His2593Asn) c.11803C>A (p.His3935Asn) c.7555C>A (p.His2519Asn) c.10783C>A (p.His3595Asn) | |
8 | g.99875595C>G | CA371796032 | COX6C,VPS13B | c.*1652C>G (n.*1652C>G) n.12628C>G c.*7680C>G (n.*7680C>G) c.11923C>G (p.His3975Asp) c.11998C>G (p.His4000Asp) n.1500C>G c.*142-503G>C (n.*142-503G>C) c.*142-2302G>C (n.*142-2302G>C) c.11995C>G (p.His3999Asp) c.11920C>G (p.His3974Asp) c.11620C>G (p.His3874Asp) c.8884C>G (p.His2962Asp) c.7777C>G (p.His2593Asp) c.11803C>G (p.His3935Asp) c.7555C>G (p.His2519Asp) c.10783C>G (p.His3595Asp) | |
8 | g.99875595C>T | CA371796034 | COX6C,VPS13B | c.*1652C>T (n.*1652C>T) n.12628C>T c.*7680C>T (n.*7680C>T) c.11923C>T (p.His3975Tyr) c.11998C>T (p.His4000Tyr) n.1500C>T c.*142-503G>A (n.*142-503G>A) c.*142-2302G>A (n.*142-2302G>A) c.11995C>T (p.His3999Tyr) c.11920C>T (p.His3974Tyr) c.11620C>T (p.His3874Tyr) c.8884C>T (p.His2962Tyr) c.7777C>T (p.His2593Tyr) c.11803C>T (p.His3935Tyr) c.7555C>T (p.His2519Tyr) c.10783C>T (p.His3595Tyr) | |
8 | g.99875596A>C | CA371796038 | COX6C,VPS13B | c.*1653A>C (n.*1653A>C) n.12629A>C c.*7681A>C (n.*7681A>C) c.11924A>C (p.His3975Pro) c.11999A>C (p.His4000Pro) n.1501A>C c.*142-504T>G (n.*142-504T>G) c.*142-2303T>G (n.*142-2303T>G) c.11996A>C (p.His3999Pro) c.11921A>C (p.His3974Pro) c.11621A>C (p.His3874Pro) c.8885A>C (p.His2962Pro) c.7778A>C (p.His2593Pro) c.11804A>C (p.His3935Pro) c.7556A>C (p.His2519Pro) c.10784A>C (p.His3595Pro) | |
8 | g.99875596A>G | CA371796040 | COX6C,VPS13B | c.*1653A>G (n.*1653A>G) n.12629A>G c.*7681A>G (n.*7681A>G) c.11924A>G (p.His3975Arg) c.11999A>G (p.His4000Arg) n.1501A>G c.*142-504T>C (n.*142-504T>C) c.*142-2303T>C (n.*142-2303T>C) c.11996A>G (p.His3999Arg) c.11921A>G (p.His3974Arg) c.11621A>G (p.His3874Arg) c.8885A>G (p.His2962Arg) c.7778A>G (p.His2593Arg) c.11804A>G (p.His3935Arg) c.7556A>G (p.His2519Arg) c.10784A>G (p.His3595Arg) | gnomAD v4 |
8 | g.99875596A>T | CA371796042 | COX6C,VPS13B | c.*1653A>T (n.*1653A>T) n.12629A>T c.*7681A>T (n.*7681A>T) c.11924A>T (p.His3975Leu) c.11999A>T (p.His4000Leu) n.1501A>T c.*142-504T>A (n.*142-504T>A) c.*142-2303T>A (n.*142-2303T>A) c.11996A>T (p.His3999Leu) c.11921A>T (p.His3974Leu) c.11621A>T (p.His3874Leu) c.8885A>T (p.His2962Leu) c.7778A>T (p.His2593Leu) c.11804A>T (p.His3935Leu) c.7556A>T (p.His2519Leu) c.10784A>T (p.His3595Leu) | |
8 | g.99875597T>A | CA371796043 | COX6C,VPS13B | c.*1654T>A (n.*1654T>A) n.12630T>A c.*7682T>A (n.*7682T>A) c.11925T>A (p.His3975Gln) c.12000T>A (p.His4000Gln) n.1502T>A c.*142-505A>T (n.*142-505A>T) c.*142-2304A>T (n.*142-2304A>T) c.11997T>A (p.His3999Gln) c.11922T>A (p.His3974Gln) c.11622T>A (p.His3874Gln) c.8886T>A (p.His2962Gln) c.7779T>A (p.His2593Gln) c.11805T>A (p.His3935Gln) c.7557T>A (p.His2519Gln) c.10785T>A (p.His3595Gln) | |
8 | g.99875597T>C | CA462458660 | COX6C,VPS13B | c.*1654T>C (n.*1654T>C) n.12630T>C c.*7682T>C (n.*7682T>C) c.11925T>C (p.His3975=) c.12000T>C (p.His4000=) n.1502T>C c.*142-505A>G (n.*142-505A>G) c.*142-2304A>G (n.*142-2304A>G) c.11997T>C (p.His3999=) c.11922T>C (p.His3974=) c.11622T>C (p.His3874=) c.8886T>C (p.His2962=) c.7779T>C (p.His2593=) c.11805T>C (p.His3935=) c.7557T>C (p.His2519=) c.10785T>C (p.His3595=) | dbSNP gnomAD v4 |
8 | g.99875597T>G | CA182335457 | COX6C,VPS13B | c.*1654T>G (n.*1654T>G) n.12630T>G c.*7682T>G (n.*7682T>G) c.11925T>G (p.His3975Gln) c.12000T>G (p.His4000Gln) n.1502T>G c.*142-505A>C (n.*142-505A>C) c.*142-2304A>C (n.*142-2304A>C) c.11997T>G (p.His3999Gln) c.11922T>G (p.His3974Gln) c.11622T>G (p.His3874Gln) c.8886T>G (p.His2962Gln) c.7779T>G (p.His2593Gln) c.11805T>G (p.His3935Gln) c.7557T>G (p.His2519Gln) c.10785T>G (p.His3595Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875598T>A | CA371796046 | COX6C,VPS13B | c.*1655T>A (n.*1655T>A) n.12631T>A c.*7683T>A (n.*7683T>A) c.11926T>A (p.Phe3976Ile) c.12001T>A (p.Phe4001Ile) n.1503T>A c.*142-506A>T (n.*142-506A>T) c.*142-2305A>T (n.*142-2305A>T) c.11998T>A (p.Phe4000Ile) c.11923T>A (p.Phe3975Ile) c.11623T>A (p.Phe3875Ile) c.8887T>A (p.Phe2963Ile) c.7780T>A (p.Phe2594Ile) c.11806T>A (p.Phe3936Ile) c.7558T>A (p.Phe2520Ile) c.10786T>A (p.Phe3596Ile) | |
8 | g.99875598T>C | CA371796049 | COX6C,VPS13B | c.*1655T>C (n.*1655T>C) n.12631T>C c.*7683T>C (n.*7683T>C) c.11926T>C (p.Phe3976Leu) c.12001T>C (p.Phe4001Leu) n.1503T>C c.*142-506A>G (n.*142-506A>G) c.*142-2305A>G (n.*142-2305A>G) c.11998T>C (p.Phe4000Leu) c.11923T>C (p.Phe3975Leu) c.11623T>C (p.Phe3875Leu) c.8887T>C (p.Phe2963Leu) c.7780T>C (p.Phe2594Leu) c.11806T>C (p.Phe3936Leu) c.7558T>C (p.Phe2520Leu) c.10786T>C (p.Phe3596Leu) | dbSNP |
8 | g.99875598T>G | CA371796047 | COX6C,VPS13B | c.*1655T>G (n.*1655T>G) n.12631T>G c.*7683T>G (n.*7683T>G) c.11926T>G (p.Phe3976Val) c.12001T>G (p.Phe4001Val) n.1503T>G c.*142-506A>C (n.*142-506A>C) c.*142-2305A>C (n.*142-2305A>C) c.11998T>G (p.Phe4000Val) c.11923T>G (p.Phe3975Val) c.11623T>G (p.Phe3875Val) c.8887T>G (p.Phe2963Val) c.7780T>G (p.Phe2594Val) c.11806T>G (p.Phe3936Val) c.7558T>G (p.Phe2520Val) c.10786T>G (p.Phe3596Val) | |
8 | g.99875599T>A | CA371796052 | COX6C,VPS13B | c.*1656T>A (n.*1656T>A) n.12632T>A c.*7684T>A (n.*7684T>A) c.11927T>A (p.Phe3976Tyr) c.12002T>A (p.Phe4001Tyr) n.1504T>A c.*142-507A>T (n.*142-507A>T) c.*142-2306A>T (n.*142-2306A>T) c.11999T>A (p.Phe4000Tyr) c.11924T>A (p.Phe3975Tyr) c.11624T>A (p.Phe3875Tyr) c.8888T>A (p.Phe2963Tyr) c.7781T>A (p.Phe2594Tyr) c.11807T>A (p.Phe3936Tyr) c.7559T>A (p.Phe2520Tyr) c.10787T>A (p.Phe3596Tyr) | |
8 | g.99875599T>C | CA371796053 | COX6C,VPS13B | c.*1656T>C (n.*1656T>C) n.12632T>C c.*7684T>C (n.*7684T>C) c.11927T>C (p.Phe3976Ser) c.12002T>C (p.Phe4001Ser) n.1504T>C c.*142-507A>G (n.*142-507A>G) c.*142-2306A>G (n.*142-2306A>G) c.11999T>C (p.Phe4000Ser) c.11924T>C (p.Phe3975Ser) c.11624T>C (p.Phe3875Ser) c.8888T>C (p.Phe2963Ser) c.7781T>C (p.Phe2594Ser) c.11807T>C (p.Phe3936Ser) c.7559T>C (p.Phe2520Ser) c.10787T>C (p.Phe3596Ser) | |
8 | g.99875599T>G | CA371796055 | COX6C,VPS13B | c.*1656T>G (n.*1656T>G) n.12632T>G c.*7684T>G (n.*7684T>G) c.11927T>G (p.Phe3976Cys) c.12002T>G (p.Phe4001Cys) n.1504T>G c.*142-507A>C (n.*142-507A>C) c.*142-2306A>C (n.*142-2306A>C) c.11999T>G (p.Phe4000Cys) c.11924T>G (p.Phe3975Cys) c.11624T>G (p.Phe3875Cys) c.8888T>G (p.Phe2963Cys) c.7781T>G (p.Phe2594Cys) c.11807T>G (p.Phe3936Cys) c.7559T>G (p.Phe2520Cys) c.10787T>G (p.Phe3596Cys) | |
8 | g.99875600T>A | CA371796057 | COX6C,VPS13B | c.*1657T>A (n.*1657T>A) n.12633T>A c.*7685T>A (n.*7685T>A) c.11928T>A (p.Phe3976Leu) c.12003T>A (p.Phe4001Leu) n.1505T>A c.*142-508A>T (n.*142-508A>T) c.*142-2307A>T (n.*142-2307A>T) c.12000T>A (p.Phe4000Leu) c.11925T>A (p.Phe3975Leu) c.11625T>A (p.Phe3875Leu) c.8889T>A (p.Phe2963Leu) c.7782T>A (p.Phe2594Leu) c.11808T>A (p.Phe3936Leu) c.7560T>A (p.Phe2520Leu) c.10788T>A (p.Phe3596Leu) | |
8 | g.99875600T>C | CA462458668 | COX6C,VPS13B | c.*1657T>C (n.*1657T>C) n.12633T>C c.*7685T>C (n.*7685T>C) c.11928T>C (p.Phe3976=) c.12003T>C (p.Phe4001=) n.1505T>C c.*142-508A>G (n.*142-508A>G) c.*142-2307A>G (n.*142-2307A>G) c.12000T>C (p.Phe4000=) c.11925T>C (p.Phe3975=) c.11625T>C (p.Phe3875=) c.8889T>C (p.Phe2963=) c.7782T>C (p.Phe2594=) c.11808T>C (p.Phe3936=) c.7560T>C (p.Phe2520=) c.10788T>C (p.Phe3596=) | |
8 | g.99875600T>G | CA371796059 | COX6C,VPS13B | c.*1657T>G (n.*1657T>G) n.12633T>G c.*7685T>G (n.*7685T>G) c.11928T>G (p.Phe3976Leu) c.12003T>G (p.Phe4001Leu) n.1505T>G c.*142-508A>C (n.*142-508A>C) c.*142-2307A>C (n.*142-2307A>C) c.12000T>G (p.Phe4000Leu) c.11925T>G (p.Phe3975Leu) c.11625T>G (p.Phe3875Leu) c.8889T>G (p.Phe2963Leu) c.7782T>G (p.Phe2594Leu) c.11808T>G (p.Phe3936Leu) c.7560T>G (p.Phe2520Leu) c.10788T>G (p.Phe3596Leu) | |
8 | g.99875601G>A | CA371796061 | COX6C,VPS13B | c.*1658G>A (n.*1658G>A) n.12634G>A c.*7686G>A (n.*7686G>A) c.11929G>A (p.Ala3977Thr) c.12004G>A (p.Ala4002Thr) n.1506G>A c.*142-509C>T (n.*142-509C>T) c.*142-2308C>T (n.*142-2308C>T) c.12001G>A (p.Ala4001Thr) c.11926G>A (p.Ala3976Thr) c.11626G>A (p.Ala3876Thr) c.8890G>A (p.Ala2964Thr) c.7783G>A (p.Ala2595Thr) c.11809G>A (p.Ala3937Thr) c.7561G>A (p.Ala2521Thr) c.10789G>A (p.Ala3597Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.99875601G>C | CA371796063 | COX6C,VPS13B | c.*1658G>C (n.*1658G>C) n.12634G>C c.*7686G>C (n.*7686G>C) c.11929G>C (p.Ala3977Pro) c.12004G>C (p.Ala4002Pro) n.1506G>C c.*142-509C>G (n.*142-509C>G) c.*142-2308C>G (n.*142-2308C>G) c.12001G>C (p.Ala4001Pro) c.11926G>C (p.Ala3976Pro) c.11626G>C (p.Ala3876Pro) c.8890G>C (p.Ala2964Pro) c.7783G>C (p.Ala2595Pro) c.11809G>C (p.Ala3937Pro) c.7561G>C (p.Ala2521Pro) c.10789G>C (p.Ala3597Pro) | |
8 | g.99875601G>T | CA371796064 | COX6C,VPS13B | c.*1658G>T (n.*1658G>T) n.12634G>T c.*7686G>T (n.*7686G>T) c.11929G>T (p.Ala3977Ser) c.12004G>T (p.Ala4002Ser) n.1506G>T c.*142-509C>A (n.*142-509C>A) c.*142-2308C>A (n.*142-2308C>A) c.12001G>T (p.Ala4001Ser) c.11926G>T (p.Ala3976Ser) c.11626G>T (p.Ala3876Ser) c.8890G>T (p.Ala2964Ser) c.7783G>T (p.Ala2595Ser) c.11809G>T (p.Ala3937Ser) c.7561G>T (p.Ala2521Ser) c.10789G>T (p.Ala3597Ser) | ClinVar dbSNP |
8 | g.99875602C>A | CA371796067 | COX6C,VPS13B | c.*1659C>A (n.*1659C>A) n.12635C>A c.*7687C>A (n.*7687C>A) c.11930C>A (p.Ala3977Asp) c.12005C>A (p.Ala4002Asp) n.1507C>A c.*142-510G>T (n.*142-510G>T) c.*142-2309G>T (n.*142-2309G>T) c.12002C>A (p.Ala4001Asp) c.11927C>A (p.Ala3976Asp) c.11627C>A (p.Ala3876Asp) c.8891C>A (p.Ala2964Asp) c.7784C>A (p.Ala2595Asp) c.11810C>A (p.Ala3937Asp) c.7562C>A (p.Ala2521Asp) c.10790C>A (p.Ala3597Asp) | |
8 | g.99875602C>G | CA371796069 | COX6C,VPS13B | c.*1659C>G (n.*1659C>G) n.12635C>G c.*7687C>G (n.*7687C>G) c.11930C>G (p.Ala3977Gly) c.12005C>G (p.Ala4002Gly) n.1507C>G c.*142-510G>C (n.*142-510G>C) c.*142-2309G>C (n.*142-2309G>C) c.12002C>G (p.Ala4001Gly) c.11927C>G (p.Ala3976Gly) c.11627C>G (p.Ala3876Gly) c.8891C>G (p.Ala2964Gly) c.7784C>G (p.Ala2595Gly) c.11810C>G (p.Ala3937Gly) c.7562C>G (p.Ala2521Gly) c.10790C>G (p.Ala3597Gly) | |
8 | g.99875602C>T | CA4825376 | COX6C,VPS13B | c.*1659C>T (n.*1659C>T) n.12635C>T c.*7687C>T (n.*7687C>T) c.11930C>T (p.Ala3977Val) c.12005C>T (p.Ala4002Val) n.1507C>T c.*142-510G>A (n.*142-510G>A) c.*142-2309G>A (n.*142-2309G>A) c.12002C>T (p.Ala4001Val) c.11927C>T (p.Ala3976Val) c.11627C>T (p.Ala3876Val) c.8891C>T (p.Ala2964Val) c.7784C>T (p.Ala2595Val) c.11810C>T (p.Ala3937Val) c.7562C>T (p.Ala2521Val) c.10790C>T (p.Ala3597Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875603T>A | CA462458675 | COX6C,VPS13B | c.*1660T>A (n.*1660T>A) n.12636T>A c.*7688T>A (n.*7688T>A) c.11931T>A (p.Ala3977=) c.12006T>A (p.Ala4002=) n.1508T>A c.*142-511A>T (n.*142-511A>T) c.*142-2310A>T (n.*142-2310A>T) c.12003T>A (p.Ala4001=) c.11928T>A (p.Ala3976=) c.11628T>A (p.Ala3876=) c.8892T>A (p.Ala2964=) c.7785T>A (p.Ala2595=) c.11811T>A (p.Ala3937=) c.7563T>A (p.Ala2521=) c.10791T>A (p.Ala3597=) | |
8 | g.99875603T>C | CA462458677 | COX6C,VPS13B | c.*1660T>C (n.*1660T>C) n.12636T>C c.*7688T>C (n.*7688T>C) c.11931T>C (p.Ala3977=) c.12006T>C (p.Ala4002=) n.1508T>C c.*142-511A>G (n.*142-511A>G) c.*142-2310A>G (n.*142-2310A>G) c.12003T>C (p.Ala4001=) c.11928T>C (p.Ala3976=) c.11628T>C (p.Ala3876=) c.8892T>C (p.Ala2964=) c.7785T>C (p.Ala2595=) c.11811T>C (p.Ala3937=) c.7563T>C (p.Ala2521=) c.10791T>C (p.Ala3597=) | dbSNP |
8 | g.99875603T>G | CA462458678 | COX6C,VPS13B | c.*1660T>G (n.*1660T>G) n.12636T>G c.*7688T>G (n.*7688T>G) c.11931T>G (p.Ala3977=) c.12006T>G (p.Ala4002=) n.1508T>G c.*142-511A>C (n.*142-511A>C) c.*142-2310A>C (n.*142-2310A>C) c.12003T>G (p.Ala4001=) c.11928T>G (p.Ala3976=) c.11628T>G (p.Ala3876=) c.8892T>G (p.Ala2964=) c.7785T>G (p.Ala2595=) c.11811T>G (p.Ala3937=) c.7563T>G (p.Ala2521=) c.10791T>G (p.Ala3597=) | gnomAD v4 |
8 | g.99875604C>A | CA371796071 | COX6C,VPS13B | c.*1661C>A (n.*1661C>A) n.12637C>A c.*7689C>A (n.*7689C>A) c.11932C>A (p.Gln3978Lys) c.12007C>A (p.Gln4003Lys) n.1509C>A c.*142-512G>T (n.*142-512G>T) c.*142-2311G>T (n.*142-2311G>T) c.12004C>A (p.Gln4002Lys) c.11929C>A (p.Gln3977Lys) c.11629C>A (p.Gln3877Lys) c.8893C>A (p.Gln2965Lys) c.7786C>A (p.Gln2596Lys) c.11812C>A (p.Gln3938Lys) c.7564C>A (p.Gln2522Lys) c.10792C>A (p.Gln3598Lys) | |
8 | g.99875604C>G | CA371796075 | COX6C,VPS13B | c.*1661C>G (n.*1661C>G) n.12637C>G c.*7689C>G (n.*7689C>G) c.11932C>G (p.Gln3978Glu) c.12007C>G (p.Gln4003Glu) n.1509C>G c.*142-512G>C (n.*142-512G>C) c.*142-2311G>C (n.*142-2311G>C) c.12004C>G (p.Gln4002Glu) c.11929C>G (p.Gln3977Glu) c.11629C>G (p.Gln3877Glu) c.8893C>G (p.Gln2965Glu) c.7786C>G (p.Gln2596Glu) c.11812C>G (p.Gln3938Glu) c.7564C>G (p.Gln2522Glu) c.10792C>G (p.Gln3598Glu) | |
8 | g.99875604C>T | CA371796073 | COX6C,VPS13B | c.*1661C>T (n.*1661C>T) n.12637C>T c.*7689C>T (n.*7689C>T) c.11932C>T (p.Gln3978Ter) c.12007C>T (p.Gln4003Ter) n.1509C>T c.*142-512G>A (n.*142-512G>A) c.*142-2311G>A (n.*142-2311G>A) c.12004C>T (p.Gln4002Ter) c.11929C>T (p.Gln3977Ter) c.11629C>T (p.Gln3877Ter) c.8893C>T (p.Gln2965Ter) c.7786C>T (p.Gln2596Ter) c.11812C>T (p.Gln3938Ter) c.7564C>T (p.Gln2522Ter) c.10792C>T (p.Gln3598Ter) | ClinVar dbSNP |
8 | g.99875605A>C | CA371796077 | COX6C,VPS13B | c.*1662A>C (n.*1662A>C) n.12638A>C c.*7690A>C (n.*7690A>C) c.11933A>C (p.Gln3978Pro) c.12008A>C (p.Gln4003Pro) n.1510A>C c.*142-513T>G (n.*142-513T>G) c.*142-2312T>G (n.*142-2312T>G) c.12005A>C (p.Gln4002Pro) c.11930A>C (p.Gln3977Pro) c.11630A>C (p.Gln3877Pro) c.8894A>C (p.Gln2965Pro) c.7787A>C (p.Gln2596Pro) c.11813A>C (p.Gln3938Pro) c.7565A>C (p.Gln2522Pro) c.10793A>C (p.Gln3598Pro) | |
8 | g.99875605A>G | CA371796081 | COX6C,VPS13B | c.*1662A>G (n.*1662A>G) n.12638A>G c.*7690A>G (n.*7690A>G) c.11933A>G (p.Gln3978Arg) c.12008A>G (p.Gln4003Arg) n.1510A>G c.*142-513T>C (n.*142-513T>C) c.*142-2312T>C (n.*142-2312T>C) c.12005A>G (p.Gln4002Arg) c.11930A>G (p.Gln3977Arg) c.11630A>G (p.Gln3877Arg) c.8894A>G (p.Gln2965Arg) c.7787A>G (p.Gln2596Arg) c.11813A>G (p.Gln3938Arg) c.7565A>G (p.Gln2522Arg) c.10793A>G (p.Gln3598Arg) | |
8 | g.99875605A>T | CA371796079 | COX6C,VPS13B | c.*1662A>T (n.*1662A>T) n.12638A>T c.*7690A>T (n.*7690A>T) c.11933A>T (p.Gln3978Leu) c.12008A>T (p.Gln4003Leu) n.1510A>T c.*142-513T>A (n.*142-513T>A) c.*142-2312T>A (n.*142-2312T>A) c.12005A>T (p.Gln4002Leu) c.11930A>T (p.Gln3977Leu) c.11630A>T (p.Gln3877Leu) c.8894A>T (p.Gln2965Leu) c.7787A>T (p.Gln2596Leu) c.11813A>T (p.Gln3938Leu) c.7565A>T (p.Gln2522Leu) c.10793A>T (p.Gln3598Leu) | |
8 | g.99875606G>A | CA462458679 | COX6C,VPS13B | c.*1663G>A (n.*1663G>A) n.12639G>A c.*7691G>A (n.*7691G>A) c.11934G>A (p.Gln3978=) c.12009G>A (p.Gln4003=) n.1511G>A c.*142-514C>T (n.*142-514C>T) c.*142-2313C>T (n.*142-2313C>T) c.12006G>A (p.Gln4002=) c.11931G>A (p.Gln3977=) c.11631G>A (p.Gln3877=) c.8895G>A (p.Gln2965=) c.7788G>A (p.Gln2596=) c.11814G>A (p.Gln3938=) c.7566G>A (p.Gln2522=) c.10794G>A (p.Gln3598=) | |
8 | g.99875606G>C | CA182335469 | COX6C,VPS13B | c.*1663G>C (n.*1663G>C) n.12639G>C c.*7691G>C (n.*7691G>C) c.11934G>C (p.Gln3978His) c.12009G>C (p.Gln4003His) n.1511G>C c.*142-514C>G (n.*142-514C>G) c.*142-2313C>G (n.*142-2313C>G) c.12006G>C (p.Gln4002His) c.11931G>C (p.Gln3977His) c.11631G>C (p.Gln3877His) c.8895G>C (p.Gln2965His) c.7788G>C (p.Gln2596His) c.11814G>C (p.Gln3938His) c.7566G>C (p.Gln2522His) c.10794G>C (p.Gln3598His) | ClinVar dbSNP gnomAD v4 |
8 | g.99875606G>T | CA371796085 | COX6C,VPS13B | c.*1663G>T (n.*1663G>T) n.12639G>T c.*7691G>T (n.*7691G>T) c.11934G>T (p.Gln3978His) c.12009G>T (p.Gln4003His) n.1511G>T c.*142-514C>A (n.*142-514C>A) c.*142-2313C>A (n.*142-2313C>A) c.12006G>T (p.Gln4002His) c.11931G>T (p.Gln3977His) c.11631G>T (p.Gln3877His) c.8895G>T (p.Gln2965His) c.7788G>T (p.Gln2596His) c.11814G>T (p.Gln3938His) c.7566G>T (p.Gln2522His) c.10794G>T (p.Gln3598His) | |
8 | g.99875607G>A | CA371796088 | COX6C,VPS13B | c.*1664G>A (n.*1664G>A) n.12640G>A c.*7692G>A (n.*7692G>A) c.11935G>A (p.Val3979Ile) c.12010G>A (p.Val4004Ile) n.1512G>A c.*142-515C>T (n.*142-515C>T) c.*142-2314C>T (n.*142-2314C>T) c.12007G>A (p.Val4003Ile) c.11932G>A (p.Val3978Ile) c.11632G>A (p.Val3878Ile) c.8896G>A (p.Val2966Ile) c.7789G>A (p.Val2597Ile) c.11815G>A (p.Val3939Ile) c.7567G>A (p.Val2523Ile) c.10795G>A (p.Val3599Ile) | |
8 | g.99875607G>C | CA371796090 | COX6C,VPS13B | c.*1664G>C (n.*1664G>C) n.12640G>C c.*7692G>C (n.*7692G>C) c.11935G>C (p.Val3979Leu) c.12010G>C (p.Val4004Leu) n.1512G>C c.*142-515C>G (n.*142-515C>G) c.*142-2314C>G (n.*142-2314C>G) c.12007G>C (p.Val4003Leu) c.11932G>C (p.Val3978Leu) c.11632G>C (p.Val3878Leu) c.8896G>C (p.Val2966Leu) c.7789G>C (p.Val2597Leu) c.11815G>C (p.Val3939Leu) c.7567G>C (p.Val2523Leu) c.10795G>C (p.Val3599Leu) | |
8 | g.99875607G>T | CA371796091 | COX6C,VPS13B | c.*1664G>T (n.*1664G>T) n.12640G>T c.*7692G>T (n.*7692G>T) c.11935G>T (p.Val3979Phe) c.12010G>T (p.Val4004Phe) n.1512G>T c.*142-515C>A (n.*142-515C>A) c.*142-2314C>A (n.*142-2314C>A) c.12007G>T (p.Val4003Phe) c.11932G>T (p.Val3978Phe) c.11632G>T (p.Val3878Phe) c.8896G>T (p.Val2966Phe) c.7789G>T (p.Val2597Phe) c.11815G>T (p.Val3939Phe) c.7567G>T (p.Val2523Phe) c.10795G>T (p.Val3599Phe) | |
8 | g.99875608T>A | CA371796093 | COX6C,VPS13B | c.*1665T>A (n.*1665T>A) n.12641T>A c.*7693T>A (n.*7693T>A) c.11936T>A (p.Val3979Asp) c.12011T>A (p.Val4004Asp) n.1513T>A c.*142-516A>T (n.*142-516A>T) c.*142-2315A>T (n.*142-2315A>T) c.12008T>A (p.Val4003Asp) c.11933T>A (p.Val3978Asp) c.11633T>A (p.Val3878Asp) c.8897T>A (p.Val2966Asp) c.7790T>A (p.Val2597Asp) c.11816T>A (p.Val3939Asp) c.7568T>A (p.Val2523Asp) c.10796T>A (p.Val3599Asp) | |
8 | g.99875608T>C | CA371796094 | COX6C,VPS13B | c.*1665T>C (n.*1665T>C) n.12641T>C c.*7693T>C (n.*7693T>C) c.11936T>C (p.Val3979Ala) c.12011T>C (p.Val4004Ala) n.1513T>C c.*142-516A>G (n.*142-516A>G) c.*142-2315A>G (n.*142-2315A>G) c.12008T>C (p.Val4003Ala) c.11933T>C (p.Val3978Ala) c.11633T>C (p.Val3878Ala) c.8897T>C (p.Val2966Ala) c.7790T>C (p.Val2597Ala) c.11816T>C (p.Val3939Ala) c.7568T>C (p.Val2523Ala) c.10796T>C (p.Val3599Ala) | |
8 | g.99875608T>G | CA371796096 | COX6C,VPS13B | c.*1665T>G (n.*1665T>G) n.12641T>G c.*7693T>G (n.*7693T>G) c.11936T>G (p.Val3979Gly) c.12011T>G (p.Val4004Gly) n.1513T>G c.*142-516A>C (n.*142-516A>C) c.*142-2315A>C (n.*142-2315A>C) c.12008T>G (p.Val4003Gly) c.11933T>G (p.Val3978Gly) c.11633T>G (p.Val3878Gly) c.8897T>G (p.Val2966Gly) c.7790T>G (p.Val2597Gly) c.11816T>G (p.Val3939Gly) c.7568T>G (p.Val2523Gly) c.10796T>G (p.Val3599Gly) | |
8 | g.99875609del | CA2688072708 | COX6C,VPS13B | c.*1666del (n.*1666del) n.12642del c.*7694del (n.*7694del) c.11937del (p.Phe3980SerfsTer8) c.12012del (p.Phe4005SerfsTer8) n.1514del c.*142-517del (n.*142-517del) c.*142-2316del (n.*142-2316del) c.12009del (p.Phe4004SerfsTer8) c.11934del (p.Phe3979SerfsTer8) c.11634del (p.Phe3879SerfsTer8) c.8898del (p.Phe2967SerfsTer8) c.7791del (p.Phe2598SerfsTer8) c.11817del (p.Phe3940SerfsTer8) c.7569del (p.Phe2524SerfsTer8) c.10797del (p.Phe3600SerfsTer8) | gnomAD v4 |
8 | g.99875609C>A | CA462458687 | COX6C,VPS13B | c.*1666C>A (n.*1666C>A) n.12642C>A c.*7694C>A (n.*7694C>A) c.11937C>A (p.Val3979=) c.12012C>A (p.Val4004=) n.1514C>A c.*142-517G>T (n.*142-517G>T) c.*142-2316G>T (n.*142-2316G>T) c.12009C>A (p.Val4003=) c.11934C>A (p.Val3978=) c.11634C>A (p.Val3878=) c.8898C>A (p.Val2966=) c.7791C>A (p.Val2597=) c.11817C>A (p.Val3939=) c.7569C>A (p.Val2523=) c.10797C>A (p.Val3599=) | |
8 | g.99875609C>G | CA462458688 | COX6C,VPS13B | c.*1666C>G (n.*1666C>G) n.12642C>G c.*7694C>G (n.*7694C>G) c.11937C>G (p.Val3979=) c.12012C>G (p.Val4004=) n.1514C>G c.*142-517G>C (n.*142-517G>C) c.*142-2316G>C (n.*142-2316G>C) c.12009C>G (p.Val4003=) c.11934C>G (p.Val3978=) c.11634C>G (p.Val3878=) c.8898C>G (p.Val2966=) c.7791C>G (p.Val2597=) c.11817C>G (p.Val3939=) c.7569C>G (p.Val2523=) c.10797C>G (p.Val3599=) | COSMIC |
8 | g.99875609C>T | CA462458690 | COX6C,VPS13B | c.*1666C>T (n.*1666C>T) n.12642C>T c.*7694C>T (n.*7694C>T) c.11937C>T (p.Val3979=) c.12012C>T (p.Val4004=) n.1514C>T c.*142-517G>A (n.*142-517G>A) c.*142-2316G>A (n.*142-2316G>A) c.12009C>T (p.Val4003=) c.11934C>T (p.Val3978=) c.11634C>T (p.Val3878=) c.8898C>T (p.Val2966=) c.7791C>T (p.Val2597=) c.11817C>T (p.Val3939=) c.7569C>T (p.Val2523=) c.10797C>T (p.Val3599=) | gnomAD v4 |
8 | g.99875610T>A | CA371796098 | COX6C,VPS13B | c.*1667T>A (n.*1667T>A) n.12643T>A c.*7695T>A (n.*7695T>A) c.11938T>A (p.Phe3980Ile) c.12013T>A (p.Phe4005Ile) n.1515T>A c.*142-518A>T (n.*142-518A>T) c.*142-2317A>T (n.*142-2317A>T) c.12010T>A (p.Phe4004Ile) c.11935T>A (p.Phe3979Ile) c.11635T>A (p.Phe3879Ile) c.8899T>A (p.Phe2967Ile) c.7792T>A (p.Phe2598Ile) c.11818T>A (p.Phe3940Ile) c.7570T>A (p.Phe2524Ile) c.10798T>A (p.Phe3600Ile) | |
8 | g.99875610T>C | CA371796100 | COX6C,VPS13B | c.*1667T>C (n.*1667T>C) n.12643T>C c.*7695T>C (n.*7695T>C) c.11938T>C (p.Phe3980Leu) c.12013T>C (p.Phe4005Leu) n.1515T>C c.*142-518A>G (n.*142-518A>G) c.*142-2317A>G (n.*142-2317A>G) c.12010T>C (p.Phe4004Leu) c.11935T>C (p.Phe3979Leu) c.11635T>C (p.Phe3879Leu) c.8899T>C (p.Phe2967Leu) c.7792T>C (p.Phe2598Leu) c.11818T>C (p.Phe3940Leu) c.7570T>C (p.Phe2524Leu) c.10798T>C (p.Phe3600Leu) | |
8 | g.99875610T>G | CA371796101 | COX6C,VPS13B | c.*1667T>G (n.*1667T>G) n.12643T>G c.*7695T>G (n.*7695T>G) c.11938T>G (p.Phe3980Val) c.12013T>G (p.Phe4005Val) n.1515T>G c.*142-518A>C (n.*142-518A>C) c.*142-2317A>C (n.*142-2317A>C) c.12010T>G (p.Phe4004Val) c.11935T>G (p.Phe3979Val) c.11635T>G (p.Phe3879Val) c.8899T>G (p.Phe2967Val) c.7792T>G (p.Phe2598Val) c.11818T>G (p.Phe3940Val) c.7570T>G (p.Phe2524Val) c.10798T>G (p.Phe3600Val) | ClinVar gnomAD v4 |
8 | g.99875611T>A | CA371796104 | COX6C,VPS13B | c.*1668T>A (n.*1668T>A) n.12644T>A c.*7696T>A (n.*7696T>A) c.11939T>A (p.Phe3980Tyr) c.12014T>A (p.Phe4005Tyr) n.1516T>A c.*142-519A>T (n.*142-519A>T) c.*142-2318A>T (n.*142-2318A>T) c.12011T>A (p.Phe4004Tyr) c.11936T>A (p.Phe3979Tyr) c.11636T>A (p.Phe3879Tyr) c.8900T>A (p.Phe2967Tyr) c.7793T>A (p.Phe2598Tyr) c.11819T>A (p.Phe3940Tyr) c.7571T>A (p.Phe2524Tyr) c.10799T>A (p.Phe3600Tyr) | |
8 | g.99875611T>C | CA371796106 | COX6C,VPS13B | c.*1668T>C (n.*1668T>C) n.12644T>C c.*7696T>C (n.*7696T>C) c.11939T>C (p.Phe3980Ser) c.12014T>C (p.Phe4005Ser) n.1516T>C c.*142-519A>G (n.*142-519A>G) c.*142-2318A>G (n.*142-2318A>G) c.12011T>C (p.Phe4004Ser) c.11936T>C (p.Phe3979Ser) c.11636T>C (p.Phe3879Ser) c.8900T>C (p.Phe2967Ser) c.7793T>C (p.Phe2598Ser) c.11819T>C (p.Phe3940Ser) c.7571T>C (p.Phe2524Ser) c.10799T>C (p.Phe3600Ser) | |
8 | g.99875611T>G | CA371796107 | COX6C,VPS13B | c.*1668T>G (n.*1668T>G) n.12644T>G c.*7696T>G (n.*7696T>G) c.11939T>G (p.Phe3980Cys) c.12014T>G (p.Phe4005Cys) n.1516T>G c.*142-519A>C (n.*142-519A>C) c.*142-2318A>C (n.*142-2318A>C) c.12011T>G (p.Phe4004Cys) c.11936T>G (p.Phe3979Cys) c.11636T>G (p.Phe3879Cys) c.8900T>G (p.Phe2967Cys) c.7793T>G (p.Phe2598Cys) c.11819T>G (p.Phe3940Cys) c.7571T>G (p.Phe2524Cys) c.10799T>G (p.Phe3600Cys) | gnomAD v4 |
8 | g.99875612_99875614del | CA2688072709 | COX6C,VPS13B | c.*1669_*1671del (n.*1669_*1671del) n.12645_12647del c.*7697_*7699del (n.*7697_*7699del) c.11940_11942del (p.Leu3981del) c.12015_12017del (p.Leu4006del) n.1517_1519del c.*142-521_*142-519del (n.*142-521_*142-519del) c.*142-2320_*142-2318del (n.*142-2320_*142-2318del) c.12012_12014del (p.Leu4005del) c.11937_11939del (p.Leu3980del) c.11637_11639del (p.Leu3880del) c.8901_8903del (p.Leu2968del) c.7794_7796del (p.Leu2599del) c.11820_11822del (p.Leu3941del) c.7572_7574del (p.Leu2525del) c.10800_10802del (p.Leu3601del) | gnomAD v4 |
8 | g.99875612C>A | CA371796112 | COX6C,VPS13B | c.*1669C>A (n.*1669C>A) n.12645C>A c.*7697C>A (n.*7697C>A) c.11940C>A (p.Phe3980Leu) c.12015C>A (p.Phe4005Leu) n.1517C>A c.*142-520G>T (n.*142-520G>T) c.*142-2319G>T (n.*142-2319G>T) c.12012C>A (p.Phe4004Leu) c.11937C>A (p.Phe3979Leu) c.11637C>A (p.Phe3879Leu) c.8901C>A (p.Phe2967Leu) c.7794C>A (p.Phe2598Leu) c.11820C>A (p.Phe3940Leu) c.7572C>A (p.Phe2524Leu) c.10800C>A (p.Phe3600Leu) | |
8 | g.99875612C>G | CA371796110 | COX6C,VPS13B | c.*1669C>G (n.*1669C>G) n.12645C>G c.*7697C>G (n.*7697C>G) c.11940C>G (p.Phe3980Leu) c.12015C>G (p.Phe4005Leu) n.1517C>G c.*142-520G>C (n.*142-520G>C) c.*142-2319G>C (n.*142-2319G>C) c.12012C>G (p.Phe4004Leu) c.11937C>G (p.Phe3979Leu) c.11637C>G (p.Phe3879Leu) c.8901C>G (p.Phe2967Leu) c.7794C>G (p.Phe2598Leu) c.11820C>G (p.Phe3940Leu) c.7572C>G (p.Phe2524Leu) c.10800C>G (p.Phe3600Leu) | |
8 | g.99875612C>T | CA462458700 | COX6C,VPS13B | c.*1669C>T (n.*1669C>T) n.12645C>T c.*7697C>T (n.*7697C>T) c.11940C>T (p.Phe3980=) c.12015C>T (p.Phe4005=) n.1517C>T c.*142-520G>A (n.*142-520G>A) c.*142-2319G>A (n.*142-2319G>A) c.12012C>T (p.Phe4004=) c.11937C>T (p.Phe3979=) c.11637C>T (p.Phe3879=) c.8901C>T (p.Phe2967=) c.7794C>T (p.Phe2598=) c.11820C>T (p.Phe3940=) c.7572C>T (p.Phe2524=) c.10800C>T (p.Phe3600=) | gnomAD v4 |
8 | g.99875613del | CA2688072710 | COX6C,VPS13B | c.*1670del (n.*1670del) n.12646del c.*7698del (n.*7698del) c.11941del (p.Ser3982ValfsTer6) c.12016del (p.Ser4007ValfsTer6) n.1518del c.*142-520del (n.*142-520del) c.*142-2319del (n.*142-2319del) c.12013del (p.Ser4006ValfsTer6) c.11938del (p.Ser3981ValfsTer6) c.11638del (p.Ser3881ValfsTer6) c.8902del (p.Ser2969ValfsTer6) c.7795del (p.Ser2600ValfsTer6) c.11821del (p.Ser3942ValfsTer6) c.7573del (p.Ser2526ValfsTer6) c.10801del (p.Ser3602ValfsTer6) | gnomAD v4 |
8 | g.99875613C>A | CA371796114 | COX6C,VPS13B | c.*1670C>A (n.*1670C>A) n.12646C>A c.*7698C>A (n.*7698C>A) c.11941C>A (p.Leu3981Ile) c.12016C>A (p.Leu4006Ile) n.1518C>A c.*142-521G>T (n.*142-521G>T) c.*142-2320G>T (n.*142-2320G>T) c.12013C>A (p.Leu4005Ile) c.11938C>A (p.Leu3980Ile) c.11638C>A (p.Leu3880Ile) c.8902C>A (p.Leu2968Ile) c.7795C>A (p.Leu2599Ile) c.11821C>A (p.Leu3941Ile) c.7573C>A (p.Leu2525Ile) c.10801C>A (p.Leu3601Ile) | |
8 | g.99875613C>G | CA371796115 | COX6C,VPS13B | c.*1670C>G (n.*1670C>G) n.12646C>G c.*7698C>G (n.*7698C>G) c.11941C>G (p.Leu3981Val) c.12016C>G (p.Leu4006Val) n.1518C>G c.*142-521G>C (n.*142-521G>C) c.*142-2320G>C (n.*142-2320G>C) c.12013C>G (p.Leu4005Val) c.11938C>G (p.Leu3980Val) c.11638C>G (p.Leu3880Val) c.8902C>G (p.Leu2968Val) c.7795C>G (p.Leu2599Val) c.11821C>G (p.Leu3941Val) c.7573C>G (p.Leu2525Val) c.10801C>G (p.Leu3601Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875613C>T | CA371796117 | COX6C,VPS13B | c.*1670C>T (n.*1670C>T) n.12646C>T c.*7698C>T (n.*7698C>T) c.11941C>T (p.Leu3981Phe) c.12016C>T (p.Leu4006Phe) n.1518C>T c.*142-521G>A (n.*142-521G>A) c.*142-2320G>A (n.*142-2320G>A) c.12013C>T (p.Leu4005Phe) c.11938C>T (p.Leu3980Phe) c.11638C>T (p.Leu3880Phe) c.8902C>T (p.Leu2968Phe) c.7795C>T (p.Leu2599Phe) c.11821C>T (p.Leu3941Phe) c.7573C>T (p.Leu2525Phe) c.10801C>T (p.Leu3601Phe) | ClinVar gnomAD v4 |
8 | g.99875614T>A | CA371796120 | COX6C,VPS13B | c.*1671T>A (n.*1671T>A) n.12647T>A c.*7699T>A (n.*7699T>A) c.11942T>A (p.Leu3981His) c.12017T>A (p.Leu4006His) n.1519T>A c.*142-522A>T (n.*142-522A>T) c.*142-2321A>T (n.*142-2321A>T) c.12014T>A (p.Leu4005His) c.11939T>A (p.Leu3980His) c.11639T>A (p.Leu3880His) c.8903T>A (p.Leu2968His) c.7796T>A (p.Leu2599His) c.11822T>A (p.Leu3941His) c.7574T>A (p.Leu2525His) c.10802T>A (p.Leu3601His) | |
8 | g.99875614T>C | CA371796121 | COX6C,VPS13B | c.*1671T>C (n.*1671T>C) n.12647T>C c.*7699T>C (n.*7699T>C) c.11942T>C (p.Leu3981Pro) c.12017T>C (p.Leu4006Pro) n.1519T>C c.*142-522A>G (n.*142-522A>G) c.*142-2321A>G (n.*142-2321A>G) c.12014T>C (p.Leu4005Pro) c.11939T>C (p.Leu3980Pro) c.11639T>C (p.Leu3880Pro) c.8903T>C (p.Leu2968Pro) c.7796T>C (p.Leu2599Pro) c.11822T>C (p.Leu3941Pro) c.7574T>C (p.Leu2525Pro) c.10802T>C (p.Leu3601Pro) | |
8 | g.99875614T>G | CA371796123 | COX6C,VPS13B | c.*1671T>G (n.*1671T>G) n.12647T>G c.*7699T>G (n.*7699T>G) c.11942T>G (p.Leu3981Arg) c.12017T>G (p.Leu4006Arg) n.1519T>G c.*142-522A>C (n.*142-522A>C) c.*142-2321A>C (n.*142-2321A>C) c.12014T>G (p.Leu4005Arg) c.11939T>G (p.Leu3980Arg) c.11639T>G (p.Leu3880Arg) c.8903T>G (p.Leu2968Arg) c.7796T>G (p.Leu2599Arg) c.11822T>G (p.Leu3941Arg) c.7574T>G (p.Leu2525Arg) c.10802T>G (p.Leu3601Arg) | |
8 | g.99875615T>A | CA462458706 | COX6C,VPS13B | c.*1672T>A (n.*1672T>A) n.12648T>A c.*7700T>A (n.*7700T>A) c.11943T>A (p.Leu3981=) c.12018T>A (p.Leu4006=) n.1520T>A c.*142-523A>T (n.*142-523A>T) c.*142-2322A>T (n.*142-2322A>T) c.12015T>A (p.Leu4005=) c.11940T>A (p.Leu3980=) c.11640T>A (p.Leu3880=) c.8904T>A (p.Leu2968=) c.7797T>A (p.Leu2599=) c.11823T>A (p.Leu3941=) c.7575T>A (p.Leu2525=) c.10803T>A (p.Leu3601=) | |
8 | g.99875615T>C | CA462458707 | COX6C,VPS13B | c.*1672T>C (n.*1672T>C) n.12648T>C c.*7700T>C (n.*7700T>C) c.11943T>C (p.Leu3981=) c.12018T>C (p.Leu4006=) n.1520T>C c.*142-523A>G (n.*142-523A>G) c.*142-2322A>G (n.*142-2322A>G) c.12015T>C (p.Leu4005=) c.11940T>C (p.Leu3980=) c.11640T>C (p.Leu3880=) c.8904T>C (p.Leu2968=) c.7797T>C (p.Leu2599=) c.11823T>C (p.Leu3941=) c.7575T>C (p.Leu2525=) c.10803T>C (p.Leu3601=) | |
8 | g.99875615T>G | CA462458705 | COX6C,VPS13B | c.*1672T>G (n.*1672T>G) n.12648T>G c.*7700T>G (n.*7700T>G) c.11943T>G (p.Leu3981=) c.12018T>G (p.Leu4006=) n.1520T>G c.*142-523A>C (n.*142-523A>C) c.*142-2322A>C (n.*142-2322A>C) c.12015T>G (p.Leu4005=) c.11940T>G (p.Leu3980=) c.11640T>G (p.Leu3880=) c.8904T>G (p.Leu2968=) c.7797T>G (p.Leu2599=) c.11823T>G (p.Leu3941=) c.7575T>G (p.Leu2525=) c.10803T>G (p.Leu3601=) | |
8 | g.99875615_99875619dup | CA2688072711 | COX6C,VPS13B | c.*1672_*1676dup (n.*1672_*1676dup) n.12648_12652dup c.*7700_*7704dup (n.*7700_*7704dup) c.11943_11947dup (p.Lys3983IlefsTer7) c.12018_12022dup (p.Lys4008IlefsTer7) n.1520_1524dup c.*142-527_*142-523dup (n.*142-527_*142-523dup) c.*142-2326_*142-2322dup (n.*142-2326_*142-2322dup) c.12015_12019dup (p.Lys4007IlefsTer7) c.11940_11944dup (p.Lys3982IlefsTer7) c.11640_11644dup (p.Lys3882IlefsTer7) c.8904_8908dup (p.Lys2970IlefsTer7) c.7797_7801dup (p.Lys2601IlefsTer7) c.11823_11827dup (p.Lys3943IlefsTer7) c.7575_7579dup (p.Lys2527IlefsTer7) c.10803_10807dup (p.Lys3603IlefsTer7) | gnomAD v4 |
8 | g.99875616A>C | CA371796126 | COX6C,VPS13B | c.*1673A>C (n.*1673A>C) n.12649A>C c.*7701A>C (n.*7701A>C) c.11944A>C (p.Ser3982Arg) c.12019A>C (p.Ser4007Arg) n.1521A>C c.*142-524T>G (n.*142-524T>G) c.*142-2323T>G (n.*142-2323T>G) c.12016A>C (p.Ser4006Arg) c.11941A>C (p.Ser3981Arg) c.11641A>C (p.Ser3881Arg) c.8905A>C (p.Ser2969Arg) c.7798A>C (p.Ser2600Arg) c.11824A>C (p.Ser3942Arg) c.7576A>C (p.Ser2526Arg) c.10804A>C (p.Ser3602Arg) | ClinVar |
8 | g.99875616A>G | CA371796127 | COX6C,VPS13B | c.*1673A>G (n.*1673A>G) n.12649A>G c.*7701A>G (n.*7701A>G) c.11944A>G (p.Ser3982Gly) c.12019A>G (p.Ser4007Gly) n.1521A>G c.*142-524T>C (n.*142-524T>C) c.*142-2323T>C (n.*142-2323T>C) c.12016A>G (p.Ser4006Gly) c.11941A>G (p.Ser3981Gly) c.11641A>G (p.Ser3881Gly) c.8905A>G (p.Ser2969Gly) c.7798A>G (p.Ser2600Gly) c.11824A>G (p.Ser3942Gly) c.7576A>G (p.Ser2526Gly) c.10804A>G (p.Ser3602Gly) | |
8 | g.99875616A>T | CA371796128 | COX6C,VPS13B | c.*1673A>T (n.*1673A>T) n.12649A>T c.*7701A>T (n.*7701A>T) c.11944A>T (p.Ser3982Cys) c.12019A>T (p.Ser4007Cys) n.1521A>T c.*142-524T>A (n.*142-524T>A) c.*142-2323T>A (n.*142-2323T>A) c.12016A>T (p.Ser4006Cys) c.11941A>T (p.Ser3981Cys) c.11641A>T (p.Ser3881Cys) c.8905A>T (p.Ser2969Cys) c.7798A>T (p.Ser2600Cys) c.11824A>T (p.Ser3942Cys) c.7576A>T (p.Ser2526Cys) c.10804A>T (p.Ser3602Cys) | dbSNP |
8 | g.99875617G>A | CA371796131 | COX6C,VPS13B | c.*1674G>A (n.*1674G>A) n.12650G>A c.*7702G>A (n.*7702G>A) c.11945G>A (p.Ser3982Asn) c.12020G>A (p.Ser4007Asn) n.1522G>A c.*142-525C>T (n.*142-525C>T) c.*142-2324C>T (n.*142-2324C>T) c.12017G>A (p.Ser4006Asn) c.11942G>A (p.Ser3981Asn) c.11642G>A (p.Ser3881Asn) c.8906G>A (p.Ser2969Asn) c.7799G>A (p.Ser2600Asn) c.11825G>A (p.Ser3942Asn) c.7577G>A (p.Ser2526Asn) c.10805G>A (p.Ser3602Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875617G>C | CA371796133 | COX6C,VPS13B | c.*1674G>C (n.*1674G>C) n.12650G>C c.*7702G>C (n.*7702G>C) c.11945G>C (p.Ser3982Thr) c.12020G>C (p.Ser4007Thr) n.1522G>C c.*142-525C>G (n.*142-525C>G) c.*142-2324C>G (n.*142-2324C>G) c.12017G>C (p.Ser4006Thr) c.11942G>C (p.Ser3981Thr) c.11642G>C (p.Ser3881Thr) c.8906G>C (p.Ser2969Thr) c.7799G>C (p.Ser2600Thr) c.11825G>C (p.Ser3942Thr) c.7577G>C (p.Ser2526Thr) c.10805G>C (p.Ser3602Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875617G>T | CA371796135 | COX6C,VPS13B | c.*1674G>T (n.*1674G>T) n.12650G>T c.*7702G>T (n.*7702G>T) c.11945G>T (p.Ser3982Ile) c.12020G>T (p.Ser4007Ile) n.1522G>T c.*142-525C>A (n.*142-525C>A) c.*142-2324C>A (n.*142-2324C>A) c.12017G>T (p.Ser4006Ile) c.11942G>T (p.Ser3981Ile) c.11642G>T (p.Ser3881Ile) c.8906G>T (p.Ser2969Ile) c.7799G>T (p.Ser2600Ile) c.11825G>T (p.Ser3942Ile) c.7577G>T (p.Ser2526Ile) c.10805G>T (p.Ser3602Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99875618T>A | CA371796137 | COX6C,VPS13B | c.*1675T>A (n.*1675T>A) n.12651T>A c.*7703T>A (n.*7703T>A) c.11946T>A (p.Ser3982Arg) c.12021T>A (p.Ser4007Arg) n.1523T>A c.*142-526A>T (n.*142-526A>T) c.*142-2325A>T (n.*142-2325A>T) c.12018T>A (p.Ser4006Arg) c.11943T>A (p.Ser3981Arg) c.11643T>A (p.Ser3881Arg) c.8907T>A (p.Ser2969Arg) c.7800T>A (p.Ser2600Arg) c.11826T>A (p.Ser3942Arg) c.7578T>A (p.Ser2526Arg) c.10806T>A (p.Ser3602Arg) | |
8 | g.99875618T>C | CA462458710 | COX6C,VPS13B | c.*1675T>C (n.*1675T>C) n.12651T>C c.*7703T>C (n.*7703T>C) c.11946T>C (p.Ser3982=) c.12021T>C (p.Ser4007=) n.1523T>C c.*142-526A>G (n.*142-526A>G) c.*142-2325A>G (n.*142-2325A>G) c.12018T>C (p.Ser4006=) c.11943T>C (p.Ser3981=) c.11643T>C (p.Ser3881=) c.8907T>C (p.Ser2969=) c.7800T>C (p.Ser2600=) c.11826T>C (p.Ser3942=) c.7578T>C (p.Ser2526=) c.10806T>C (p.Ser3602=) | |
8 | g.99875618T>G | CA371796138 | COX6C,VPS13B | c.*1675T>G (n.*1675T>G) n.12651T>G c.*7703T>G (n.*7703T>G) c.11946T>G (p.Ser3982Arg) c.12021T>G (p.Ser4007Arg) n.1523T>G c.*142-526A>C (n.*142-526A>C) c.*142-2325A>C (n.*142-2325A>C) c.12018T>G (p.Ser4006Arg) c.11943T>G (p.Ser3981Arg) c.11643T>G (p.Ser3881Arg) c.8907T>G (p.Ser2969Arg) c.7800T>G (p.Ser2600Arg) c.11826T>G (p.Ser3942Arg) c.7578T>G (p.Ser2526Arg) c.10806T>G (p.Ser3602Arg) | |
8 | g.99875619A>C | CA371796140 | COX6C,VPS13B | c.*1676A>C (n.*1676A>C) n.12652A>C c.*7704A>C (n.*7704A>C) c.11947A>C (p.Lys3983Gln) c.12022A>C (p.Lys4008Gln) n.1524A>C c.*142-527T>G (n.*142-527T>G) c.*142-2326T>G (n.*142-2326T>G) c.12019A>C (p.Lys4007Gln) c.11944A>C (p.Lys3982Gln) c.11644A>C (p.Lys3882Gln) c.8908A>C (p.Lys2970Gln) c.7801A>C (p.Lys2601Gln) c.11827A>C (p.Lys3943Gln) c.7579A>C (p.Lys2527Gln) c.10807A>C (p.Lys3603Gln) | |
8 | g.99875619A>G | CA371796142 | COX6C,VPS13B | c.*1676A>G (n.*1676A>G) n.12652A>G c.*7704A>G (n.*7704A>G) c.11947A>G (p.Lys3983Glu) c.12022A>G (p.Lys4008Glu) n.1524A>G c.*142-527T>C (n.*142-527T>C) c.*142-2326T>C (n.*142-2326T>C) c.12019A>G (p.Lys4007Glu) c.11944A>G (p.Lys3982Glu) c.11644A>G (p.Lys3882Glu) c.8908A>G (p.Lys2970Glu) c.7801A>G (p.Lys2601Glu) c.11827A>G (p.Lys3943Glu) c.7579A>G (p.Lys2527Glu) c.10807A>G (p.Lys3603Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875619A>T | CA371796143 | COX6C,VPS13B | c.*1676A>T (n.*1676A>T) n.12652A>T c.*7704A>T (n.*7704A>T) c.11947A>T (p.Lys3983Ter) c.12022A>T (p.Lys4008Ter) n.1524A>T c.*142-527T>A (n.*142-527T>A) c.*142-2326T>A (n.*142-2326T>A) c.12019A>T (p.Lys4007Ter) c.11944A>T (p.Lys3982Ter) c.11644A>T (p.Lys3882Ter) c.8908A>T (p.Lys2970Ter) c.7801A>T (p.Lys2601Ter) c.11827A>T (p.Lys3943Ter) c.7579A>T (p.Lys2527Ter) c.10807A>T (p.Lys3603Ter) | |
8 | g.99875622_99875637dup | CA583856921 | COX6C,VPS13B | c.*1679_*1694dup (n.*1679_*1694dup) n.12655_12670dup c.*7707_*7722dup (n.*7707_*7722dup) c.11950_11965dup (p.Asn3989IlefsTer7) c.12025_12040dup (p.Asn4014IlefsTer7) n.1527_1542dup c.*142-542_*142-527dup (n.*142-542_*142-527dup) c.*142-2341_*142-2326dup (n.*142-2341_*142-2326dup) c.12022_12037dup (p.Asn4013IlefsTer7) c.11947_11962dup (p.Asn3988IlefsTer7) c.11647_11662dup (p.Asn3888IlefsTer7) c.8911_8926dup (p.Asn2976IlefsTer7) c.7804_7819dup (p.Asn2607IlefsTer7) c.11830_11845dup (p.Asn3949IlefsTer7) c.7582_7597dup (p.Asn2533IlefsTer7) c.10810_10825dup (p.Asn3609IlefsTer7) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99875620A>C | CA4825377 | COX6C,VPS13B | c.*1677A>C (n.*1677A>C) n.12653A>C c.*7705A>C (n.*7705A>C) c.11948A>C (p.Lys3983Thr) c.12023A>C (p.Lys4008Thr) n.1525A>C c.*142-528T>G (n.*142-528T>G) c.*142-2327T>G (n.*142-2327T>G) c.12020A>C (p.Lys4007Thr) c.11945A>C (p.Lys3982Thr) c.11645A>C (p.Lys3882Thr) c.8909A>C (p.Lys2970Thr) c.7802A>C (p.Lys2601Thr) c.11828A>C (p.Lys3943Thr) c.7580A>C (p.Lys2527Thr) c.10808A>C (p.Lys3603Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875620A>G | CA371796146 | COX6C,VPS13B | c.*1677A>G (n.*1677A>G) n.12653A>G c.*7705A>G (n.*7705A>G) c.11948A>G (p.Lys3983Arg) c.12023A>G (p.Lys4008Arg) n.1525A>G c.*142-528T>C (n.*142-528T>C) c.*142-2327T>C (n.*142-2327T>C) c.12020A>G (p.Lys4007Arg) c.11945A>G (p.Lys3982Arg) c.11645A>G (p.Lys3882Arg) c.8909A>G (p.Lys2970Arg) c.7802A>G (p.Lys2601Arg) c.11828A>G (p.Lys3943Arg) c.7580A>G (p.Lys2527Arg) c.10808A>G (p.Lys3603Arg) | |
8 | g.99875620A>T | CA371796147 | COX6C,VPS13B | c.*1677A>T (n.*1677A>T) n.12653A>T c.*7705A>T (n.*7705A>T) c.11948A>T (p.Lys3983Ile) c.12023A>T (p.Lys4008Ile) n.1525A>T c.*142-528T>A (n.*142-528T>A) c.*142-2327T>A (n.*142-2327T>A) c.12020A>T (p.Lys4007Ile) c.11945A>T (p.Lys3982Ile) c.11645A>T (p.Lys3882Ile) c.8909A>T (p.Lys2970Ile) c.7802A>T (p.Lys2601Ile) c.11828A>T (p.Lys3943Ile) c.7580A>T (p.Lys2527Ile) c.10808A>T (p.Lys3603Ile) | |
8 | g.99875620_99875622dup | CA2688072713 | COX6C,VPS13B | c.*1677_*1679dup (n.*1677_*1679dup) n.12653_12655dup c.*7705_*7707dup (n.*7705_*7707dup) c.11948_11950dup (p.Phe3984Ter) c.12023_12025dup (p.Phe4009Ter) n.1525_1527dup c.*142-530_*142-528dup (n.*142-530_*142-528dup) c.*142-2329_*142-2327dup (n.*142-2329_*142-2327dup) c.12020_12022dup (p.Phe4008Ter) c.11945_11947dup (p.Phe3983Ter) c.11645_11647dup (p.Phe3883Ter) c.8909_8911dup (p.Phe2971Ter) c.7802_7804dup (p.Phe2602Ter) c.11828_11830dup (p.Phe3944Ter) c.7580_7582dup (p.Phe2528Ter) c.10808_10810dup (p.Phe3604Ter) | gnomAD v4 |
8 | g.99875621A>C | CA371796150 | COX6C,VPS13B | c.*1678A>C (n.*1678A>C) n.12654A>C c.*7706A>C (n.*7706A>C) c.11949A>C (p.Lys3983Asn) c.12024A>C (p.Lys4008Asn) n.1526A>C c.*142-529T>G (n.*142-529T>G) c.*142-2328T>G (n.*142-2328T>G) c.12021A>C (p.Lys4007Asn) c.11946A>C (p.Lys3982Asn) c.11646A>C (p.Lys3882Asn) c.8910A>C (p.Lys2970Asn) c.7803A>C (p.Lys2601Asn) c.11829A>C (p.Lys3943Asn) c.7581A>C (p.Lys2527Asn) c.10809A>C (p.Lys3603Asn) | |
8 | g.99875621A>G | CA4825378 | COX6C,VPS13B | c.*1678A>G (n.*1678A>G) n.12654A>G c.*7706A>G (n.*7706A>G) c.11949A>G (p.Lys3983=) c.12024A>G (p.Lys4008=) n.1526A>G c.*142-529T>C (n.*142-529T>C) c.*142-2328T>C (n.*142-2328T>C) c.12021A>G (p.Lys4007=) c.11946A>G (p.Lys3982=) c.11646A>G (p.Lys3882=) c.8910A>G (p.Lys2970=) c.7803A>G (p.Lys2601=) c.11829A>G (p.Lys3943=) c.7581A>G (p.Lys2527=) c.10809A>G (p.Lys3603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875621A>T | CA371796152 | COX6C,VPS13B | c.*1678A>T (n.*1678A>T) n.12654A>T c.*7706A>T (n.*7706A>T) c.11949A>T (p.Lys3983Asn) c.12024A>T (p.Lys4008Asn) n.1526A>T c.*142-529T>A (n.*142-529T>A) c.*142-2328T>A (n.*142-2328T>A) c.12021A>T (p.Lys4007Asn) c.11946A>T (p.Lys3982Asn) c.11646A>T (p.Lys3882Asn) c.8910A>T (p.Lys2970Asn) c.7803A>T (p.Lys2601Asn) c.11829A>T (p.Lys3943Asn) c.7581A>T (p.Lys2527Asn) c.10809A>T (p.Lys3603Asn) | |
8 | g.99875622T>A | CA371796155 | COX6C,VPS13B | c.*1679T>A (n.*1679T>A) n.12655T>A c.*7707T>A (n.*7707T>A) c.11950T>A (p.Phe3984Ile) c.12025T>A (p.Phe4009Ile) n.1527T>A c.*142-530A>T (n.*142-530A>T) c.*142-2329A>T (n.*142-2329A>T) c.12022T>A (p.Phe4008Ile) c.11947T>A (p.Phe3983Ile) c.11647T>A (p.Phe3883Ile) c.8911T>A (p.Phe2971Ile) c.7804T>A (p.Phe2602Ile) c.11830T>A (p.Phe3944Ile) c.7582T>A (p.Phe2528Ile) c.10810T>A (p.Phe3604Ile) | |
8 | g.99875622T>C | CA371796156 | COX6C,VPS13B | c.*1679T>C (n.*1679T>C) n.12655T>C c.*7707T>C (n.*7707T>C) c.11950T>C (p.Phe3984Leu) c.12025T>C (p.Phe4009Leu) n.1527T>C c.*142-530A>G (n.*142-530A>G) c.*142-2329A>G (n.*142-2329A>G) c.12022T>C (p.Phe4008Leu) c.11947T>C (p.Phe3983Leu) c.11647T>C (p.Phe3883Leu) c.8911T>C (p.Phe2971Leu) c.7804T>C (p.Phe2602Leu) c.11830T>C (p.Phe3944Leu) c.7582T>C (p.Phe2528Leu) c.10810T>C (p.Phe3604Leu) | gnomAD v4 |
8 | g.99875622T>G | CA371796158 | COX6C,VPS13B | c.*1679T>G (n.*1679T>G) n.12655T>G c.*7707T>G (n.*7707T>G) c.11950T>G (p.Phe3984Val) c.12025T>G (p.Phe4009Val) n.1527T>G c.*142-530A>C (n.*142-530A>C) c.*142-2329A>C (n.*142-2329A>C) c.12022T>G (p.Phe4008Val) c.11947T>G (p.Phe3983Val) c.11647T>G (p.Phe3883Val) c.8911T>G (p.Phe2971Val) c.7804T>G (p.Phe2602Val) c.11830T>G (p.Phe3944Val) c.7582T>G (p.Phe2528Val) c.10810T>G (p.Phe3604Val) | |
8 | g.99875623T>A | CA371796163 | COX6C,VPS13B | c.*1680T>A (n.*1680T>A) n.12656T>A c.*7708T>A (n.*7708T>A) c.11951T>A (p.Phe3984Tyr) c.12026T>A (p.Phe4009Tyr) n.1528T>A c.*142-531A>T (n.*142-531A>T) c.*142-2330A>T (n.*142-2330A>T) c.12023T>A (p.Phe4008Tyr) c.11948T>A (p.Phe3983Tyr) c.11648T>A (p.Phe3883Tyr) c.8912T>A (p.Phe2971Tyr) c.7805T>A (p.Phe2602Tyr) c.11831T>A (p.Phe3944Tyr) c.7583T>A (p.Phe2528Tyr) c.10811T>A (p.Phe3604Tyr) | |
8 | g.99875623T>C | CA371796161 | COX6C,VPS13B | c.*1680T>C (n.*1680T>C) n.12656T>C c.*7708T>C (n.*7708T>C) c.11951T>C (p.Phe3984Ser) c.12026T>C (p.Phe4009Ser) n.1528T>C c.*142-531A>G (n.*142-531A>G) c.*142-2330A>G (n.*142-2330A>G) c.12023T>C (p.Phe4008Ser) c.11948T>C (p.Phe3983Ser) c.11648T>C (p.Phe3883Ser) c.8912T>C (p.Phe2971Ser) c.7805T>C (p.Phe2602Ser) c.11831T>C (p.Phe3944Ser) c.7583T>C (p.Phe2528Ser) c.10811T>C (p.Phe3604Ser) | |
8 | g.99875623T>G | CA371796162 | COX6C,VPS13B | c.*1680T>G (n.*1680T>G) n.12656T>G c.*7708T>G (n.*7708T>G) c.11951T>G (p.Phe3984Cys) c.12026T>G (p.Phe4009Cys) n.1528T>G c.*142-531A>C (n.*142-531A>C) c.*142-2330A>C (n.*142-2330A>C) c.12023T>G (p.Phe4008Cys) c.11948T>G (p.Phe3983Cys) c.11648T>G (p.Phe3883Cys) c.8912T>G (p.Phe2971Cys) c.7805T>G (p.Phe2602Cys) c.11831T>G (p.Phe3944Cys) c.7583T>G (p.Phe2528Cys) c.10811T>G (p.Phe3604Cys) | gnomAD v4 |
8 | g.99875624T>A | CA371796166 | COX6C,VPS13B | c.*1681T>A (n.*1681T>A) n.12657T>A c.*7709T>A (n.*7709T>A) c.11952T>A (p.Phe3984Leu) c.12027T>A (p.Phe4009Leu) n.1529T>A c.*142-532A>T (n.*142-532A>T) c.*142-2331A>T (n.*142-2331A>T) c.12024T>A (p.Phe4008Leu) c.11949T>A (p.Phe3983Leu) c.11649T>A (p.Phe3883Leu) c.8913T>A (p.Phe2971Leu) c.7806T>A (p.Phe2602Leu) c.11832T>A (p.Phe3944Leu) c.7584T>A (p.Phe2528Leu) c.10812T>A (p.Phe3604Leu) | |
8 | g.99875624T>C | CA462458718 | COX6C,VPS13B | c.*1681T>C (n.*1681T>C) n.12657T>C c.*7709T>C (n.*7709T>C) c.11952T>C (p.Phe3984=) c.12027T>C (p.Phe4009=) n.1529T>C c.*142-532A>G (n.*142-532A>G) c.*142-2331A>G (n.*142-2331A>G) c.12024T>C (p.Phe4008=) c.11949T>C (p.Phe3983=) c.11649T>C (p.Phe3883=) c.8913T>C (p.Phe2971=) c.7806T>C (p.Phe2602=) c.11832T>C (p.Phe3944=) c.7584T>C (p.Phe2528=) c.10812T>C (p.Phe3604=) | |
8 | g.99875624T>G | CA371796168 | COX6C,VPS13B | c.*1681T>G (n.*1681T>G) n.12657T>G c.*7709T>G (n.*7709T>G) c.11952T>G (p.Phe3984Leu) c.12027T>G (p.Phe4009Leu) n.1529T>G c.*142-532A>C (n.*142-532A>C) c.*142-2331A>C (n.*142-2331A>C) c.12024T>G (p.Phe4008Leu) c.11949T>G (p.Phe3983Leu) c.11649T>G (p.Phe3883Leu) c.8913T>G (p.Phe2971Leu) c.7806T>G (p.Phe2602Leu) c.11832T>G (p.Phe3944Leu) c.7584T>G (p.Phe2528Leu) c.10812T>G (p.Phe3604Leu) | |
8 | g.99875625A>C | CA371796170 | COX6C,VPS13B | c.*1682A>C (n.*1682A>C) n.12658A>C c.*7710A>C (n.*7710A>C) c.11953A>C (p.Thr3985Pro) c.12028A>C (p.Thr4010Pro) n.1530A>C c.*142-533T>G (n.*142-533T>G) c.*142-2332T>G (n.*142-2332T>G) c.12025A>C (p.Thr4009Pro) c.11950A>C (p.Thr3984Pro) c.11650A>C (p.Thr3884Pro) c.8914A>C (p.Thr2972Pro) c.7807A>C (p.Thr2603Pro) c.11833A>C (p.Thr3945Pro) c.7585A>C (p.Thr2529Pro) c.10813A>C (p.Thr3605Pro) | |
8 | g.99875625A>G | CA371796172 | COX6C,VPS13B | c.*1682A>G (n.*1682A>G) n.12658A>G c.*7710A>G (n.*7710A>G) c.11953A>G (p.Thr3985Ala) c.12028A>G (p.Thr4010Ala) n.1530A>G c.*142-533T>C (n.*142-533T>C) c.*142-2332T>C (n.*142-2332T>C) c.12025A>G (p.Thr4009Ala) c.11950A>G (p.Thr3984Ala) c.11650A>G (p.Thr3884Ala) c.8914A>G (p.Thr2972Ala) c.7807A>G (p.Thr2603Ala) c.11833A>G (p.Thr3945Ala) c.7585A>G (p.Thr2529Ala) c.10813A>G (p.Thr3605Ala) | dbSNP |
8 | g.99875625A>T | CA371796174 | COX6C,VPS13B | c.*1682A>T (n.*1682A>T) n.12658A>T c.*7710A>T (n.*7710A>T) c.11953A>T (p.Thr3985Ser) c.12028A>T (p.Thr4010Ser) n.1530A>T c.*142-533T>A (n.*142-533T>A) c.*142-2332T>A (n.*142-2332T>A) c.12025A>T (p.Thr4009Ser) c.11950A>T (p.Thr3984Ser) c.11650A>T (p.Thr3884Ser) c.8914A>T (p.Thr2972Ser) c.7807A>T (p.Thr2603Ser) c.11833A>T (p.Thr3945Ser) c.7585A>T (p.Thr2529Ser) c.10813A>T (p.Thr3605Ser) | |
8 | g.99875625_99875628del | CA857613631 | COX6C,VPS13B | c.*1682_*1685del (n.*1682_*1685del) n.12658_12661del c.*7710_*7713del (n.*7710_*7713del) c.11953_11956del (p.Thr3985TrpfsTer2) c.12028_12031del (p.Thr4010TrpfsTer2) n.1530_1533del c.*142-536_*142-533del (n.*142-536_*142-533del) c.*142-2335_*142-2332del (n.*142-2335_*142-2332del) c.12025_12028del (p.Thr4009TrpfsTer2) c.11950_11953del (p.Thr3984TrpfsTer2) c.11650_11653del (p.Thr3884TrpfsTer2) c.8914_8917del (p.Thr2972TrpfsTer2) c.7807_7810del (p.Thr2603TrpfsTer2) c.11833_11836del (p.Thr3945TrpfsTer2) c.7585_7588del (p.Thr2529TrpfsTer2) c.10813_10816del (p.Thr3605TrpfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875626C>A | CA371796175 | COX6C,VPS13B | c.*1683C>A (n.*1683C>A) n.12659C>A c.*7711C>A (n.*7711C>A) c.11954C>A (p.Thr3985Asn) c.12029C>A (p.Thr4010Asn) n.1531C>A c.*142-534G>T (n.*142-534G>T) c.*142-2333G>T (n.*142-2333G>T) c.12026C>A (p.Thr4009Asn) c.11951C>A (p.Thr3984Asn) c.11651C>A (p.Thr3884Asn) c.8915C>A (p.Thr2972Asn) c.7808C>A (p.Thr2603Asn) c.11834C>A (p.Thr3945Asn) c.7586C>A (p.Thr2529Asn) c.10814C>A (p.Thr3605Asn) | |
8 | g.99875626C>G | CA371796176 | COX6C,VPS13B | c.*1683C>G (n.*1683C>G) n.12659C>G c.*7711C>G (n.*7711C>G) c.11954C>G (p.Thr3985Ser) c.12029C>G (p.Thr4010Ser) n.1531C>G c.*142-534G>C (n.*142-534G>C) c.*142-2333G>C (n.*142-2333G>C) c.12026C>G (p.Thr4009Ser) c.11951C>G (p.Thr3984Ser) c.11651C>G (p.Thr3884Ser) c.8915C>G (p.Thr2972Ser) c.7808C>G (p.Thr2603Ser) c.11834C>G (p.Thr3945Ser) c.7586C>G (p.Thr2529Ser) c.10814C>G (p.Thr3605Ser) | |
8 | g.99875626C>T | CA371796178 | COX6C,VPS13B | c.*1683C>T (n.*1683C>T) n.12659C>T c.*7711C>T (n.*7711C>T) c.11954C>T (p.Thr3985Ile) c.12029C>T (p.Thr4010Ile) n.1531C>T c.*142-534G>A (n.*142-534G>A) c.*142-2333G>A (n.*142-2333G>A) c.12026C>T (p.Thr4009Ile) c.11951C>T (p.Thr3984Ile) c.11651C>T (p.Thr3884Ile) c.8915C>T (p.Thr2972Ile) c.7808C>T (p.Thr2603Ile) c.11834C>T (p.Thr3945Ile) c.7586C>T (p.Thr2529Ile) c.10814C>T (p.Thr3605Ile) | |
8 | g.99875627C>A | CA462458720 | COX6C,VPS13B | c.*1684C>A (n.*1684C>A) n.12660C>A c.*7712C>A (n.*7712C>A) c.11955C>A (p.Thr3985=) c.12030C>A (p.Thr4010=) n.1532C>A c.*142-535G>T (n.*142-535G>T) c.*142-2334G>T (n.*142-2334G>T) c.12027C>A (p.Thr4009=) c.11952C>A (p.Thr3984=) c.11652C>A (p.Thr3884=) c.8916C>A (p.Thr2972=) c.7809C>A (p.Thr2603=) c.11835C>A (p.Thr3945=) c.7587C>A (p.Thr2529=) c.10815C>A (p.Thr3605=) | |
8 | g.99875627C>G | CA462458723 | COX6C,VPS13B | c.*1684C>G (n.*1684C>G) n.12660C>G c.*7712C>G (n.*7712C>G) c.11955C>G (p.Thr3985=) c.12030C>G (p.Thr4010=) n.1532C>G c.*142-535G>C (n.*142-535G>C) c.*142-2334G>C (n.*142-2334G>C) c.12027C>G (p.Thr4009=) c.11952C>G (p.Thr3984=) c.11652C>G (p.Thr3884=) c.8916C>G (p.Thr2972=) c.7809C>G (p.Thr2603=) c.11835C>G (p.Thr3945=) c.7587C>G (p.Thr2529=) c.10815C>G (p.Thr3605=) | |
8 | g.99875627C>T | CA462458726 | COX6C,VPS13B | c.*1684C>T (n.*1684C>T) n.12660C>T c.*7712C>T (n.*7712C>T) c.11955C>T (p.Thr3985=) c.12030C>T (p.Thr4010=) n.1532C>T c.*142-535G>A (n.*142-535G>A) c.*142-2334G>A (n.*142-2334G>A) c.12027C>T (p.Thr4009=) c.11952C>T (p.Thr3984=) c.11652C>T (p.Thr3884=) c.8916C>T (p.Thr2972=) c.7809C>T (p.Thr2603=) c.11835C>T (p.Thr3945=) c.7587C>T (p.Thr2529=) c.10815C>T (p.Thr3605=) | ClinVar |
8 | g.99875628del | CA1117131808 | COX6C,VPS13B | c.*1685del (n.*1685del) n.12661del c.*7713del (n.*7713del) c.11956del (p.Met3986TrpfsTer2) c.12031del (p.Met4011TrpfsTer2) n.1533del c.*142-536del (n.*142-536del) c.*142-2335del (n.*142-2335del) c.12028del (p.Met4010TrpfsTer2) c.11953del (p.Met3985TrpfsTer2) c.11653del (p.Met3885TrpfsTer2) c.8917del (p.Met2973TrpfsTer2) c.7810del (p.Met2604TrpfsTer2) c.11836del (p.Met3946TrpfsTer2) c.7588del (p.Met2530TrpfsTer2) c.10816del (p.Met3606TrpfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875628A>C | CA371796181 | COX6C,VPS13B | c.*1685A>C (n.*1685A>C) n.12661A>C c.*7713A>C (n.*7713A>C) c.11956A>C (p.Met3986Leu) c.12031A>C (p.Met4011Leu) n.1533A>C c.*142-536T>G (n.*142-536T>G) c.*142-2335T>G (n.*142-2335T>G) c.12028A>C (p.Met4010Leu) c.11953A>C (p.Met3985Leu) c.11653A>C (p.Met3885Leu) c.8917A>C (p.Met2973Leu) c.7810A>C (p.Met2604Leu) c.11836A>C (p.Met3946Leu) c.7588A>C (p.Met2530Leu) c.10816A>C (p.Met3606Leu) | |
8 | g.99875628A>G | CA371796182 | COX6C,VPS13B | c.*1685A>G (n.*1685A>G) n.12661A>G c.*7713A>G (n.*7713A>G) c.11956A>G (p.Met3986Val) c.12031A>G (p.Met4011Val) n.1533A>G c.*142-536T>C (n.*142-536T>C) c.*142-2335T>C (n.*142-2335T>C) c.12028A>G (p.Met4010Val) c.11953A>G (p.Met3985Val) c.11653A>G (p.Met3885Val) c.8917A>G (p.Met2973Val) c.7810A>G (p.Met2604Val) c.11836A>G (p.Met3946Val) c.7588A>G (p.Met2530Val) c.10816A>G (p.Met3606Val) | |
8 | g.99875628A>T | CA371796184 | COX6C,VPS13B | c.*1685A>T (n.*1685A>T) n.12661A>T c.*7713A>T (n.*7713A>T) c.11956A>T (p.Met3986Leu) c.12031A>T (p.Met4011Leu) n.1533A>T c.*142-536T>A (n.*142-536T>A) c.*142-2335T>A (n.*142-2335T>A) c.12028A>T (p.Met4010Leu) c.11953A>T (p.Met3985Leu) c.11653A>T (p.Met3885Leu) c.8917A>T (p.Met2973Leu) c.7810A>T (p.Met2604Leu) c.11836A>T (p.Met3946Leu) c.7588A>T (p.Met2530Leu) c.10816A>T (p.Met3606Leu) | |
8 | g.99875629T>A | CA371796188 | COX6C,VPS13B | c.*1686T>A (n.*1686T>A) n.12662T>A c.*7714T>A (n.*7714T>A) c.11957T>A (p.Met3986Lys) c.12032T>A (p.Met4011Lys) n.1534T>A c.*142-537A>T (n.*142-537A>T) c.*142-2336A>T (n.*142-2336A>T) c.12029T>A (p.Met4010Lys) c.11954T>A (p.Met3985Lys) c.11654T>A (p.Met3885Lys) c.8918T>A (p.Met2973Lys) c.7811T>A (p.Met2604Lys) c.11837T>A (p.Met3946Lys) c.7589T>A (p.Met2530Lys) c.10817T>A (p.Met3606Lys) | ClinVar |
8 | g.99875629T>C | CA4825379 | COX6C,VPS13B | c.*1686T>C (n.*1686T>C) n.12662T>C c.*7714T>C (n.*7714T>C) c.11957T>C (p.Met3986Thr) c.12032T>C (p.Met4011Thr) n.1534T>C c.*142-537A>G (n.*142-537A>G) c.*142-2336A>G (n.*142-2336A>G) c.12029T>C (p.Met4010Thr) c.11954T>C (p.Met3985Thr) c.11654T>C (p.Met3885Thr) c.8918T>C (p.Met2973Thr) c.7811T>C (p.Met2604Thr) c.11837T>C (p.Met3946Thr) c.7589T>C (p.Met2530Thr) c.10817T>C (p.Met3606Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875629T>G | CA371796187 | COX6C,VPS13B | c.*1686T>G (n.*1686T>G) n.12662T>G c.*7714T>G (n.*7714T>G) c.11957T>G (p.Met3986Arg) c.12032T>G (p.Met4011Arg) n.1534T>G c.*142-537A>C (n.*142-537A>C) c.*142-2336A>C (n.*142-2336A>C) c.12029T>G (p.Met4010Arg) c.11954T>G (p.Met3985Arg) c.11654T>G (p.Met3885Arg) c.8918T>G (p.Met2973Arg) c.7811T>G (p.Met2604Arg) c.11837T>G (p.Met3946Arg) c.7589T>G (p.Met2530Arg) c.10817T>G (p.Met3606Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99875630G>A | CA371796191 | COX6C,VPS13B | c.*1687G>A (n.*1687G>A) n.12663G>A c.*7715G>A (n.*7715G>A) c.11958G>A (p.Met3986Ile) c.12033G>A (p.Met4011Ile) n.1535G>A c.*142-538C>T (n.*142-538C>T) c.*142-2337C>T (n.*142-2337C>T) c.12030G>A (p.Met4010Ile) c.11955G>A (p.Met3985Ile) c.11655G>A (p.Met3885Ile) c.8919G>A (p.Met2973Ile) c.7812G>A (p.Met2604Ile) c.11838G>A (p.Met3946Ile) c.7590G>A (p.Met2530Ile) c.10818G>A (p.Met3606Ile) | ClinVar dbSNP |
8 | g.99875630G>C | CA4825380 | COX6C,VPS13B | c.*1687G>C (n.*1687G>C) n.12663G>C c.*7715G>C (n.*7715G>C) c.11958G>C (p.Met3986Ile) c.12033G>C (p.Met4011Ile) n.1535G>C c.*142-538C>G (n.*142-538C>G) c.*142-2337C>G (n.*142-2337C>G) c.12030G>C (p.Met4010Ile) c.11955G>C (p.Met3985Ile) c.11655G>C (p.Met3885Ile) c.8919G>C (p.Met2973Ile) c.7812G>C (p.Met2604Ile) c.11838G>C (p.Met3946Ile) c.7590G>C (p.Met2530Ile) c.10818G>C (p.Met3606Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875630G>T | CA371796194 | COX6C,VPS13B | c.*1687G>T (n.*1687G>T) n.12663G>T c.*7715G>T (n.*7715G>T) c.11958G>T (p.Met3986Ile) c.12033G>T (p.Met4011Ile) n.1535G>T c.*142-538C>A (n.*142-538C>A) c.*142-2337C>A (n.*142-2337C>A) c.12030G>T (p.Met4010Ile) c.11955G>T (p.Met3985Ile) c.11655G>T (p.Met3885Ile) c.8919G>T (p.Met2973Ile) c.7812G>T (p.Met2604Ile) c.11838G>T (p.Met3946Ile) c.7590G>T (p.Met2530Ile) c.10818G>T (p.Met3606Ile) | |
8 | g.99875631G>A | CA371796196 | COX6C,VPS13B | c.*1688G>A (n.*1688G>A) n.12664G>A c.*7716G>A (n.*7716G>A) c.11959G>A (p.Val3987Met) c.12034G>A (p.Val4012Met) n.1536G>A c.*142-539C>T (n.*142-539C>T) c.*142-2338C>T (n.*142-2338C>T) c.12031G>A (p.Val4011Met) c.11956G>A (p.Val3986Met) c.11656G>A (p.Val3886Met) c.8920G>A (p.Val2974Met) c.7813G>A (p.Val2605Met) c.11839G>A (p.Val3947Met) c.7591G>A (p.Val2531Met) c.10819G>A (p.Val3607Met) | |
8 | g.99875631G>C | CA4825381 | COX6C,VPS13B | c.*1688G>C (n.*1688G>C) n.12664G>C c.*7716G>C (n.*7716G>C) c.11959G>C (p.Val3987Leu) c.12034G>C (p.Val4012Leu) n.1536G>C c.*142-539C>G (n.*142-539C>G) c.*142-2338C>G (n.*142-2338C>G) c.12031G>C (p.Val4011Leu) c.11956G>C (p.Val3986Leu) c.11656G>C (p.Val3886Leu) c.8920G>C (p.Val2974Leu) c.7813G>C (p.Val2605Leu) c.11839G>C (p.Val3947Leu) c.7591G>C (p.Val2531Leu) c.10819G>C (p.Val3607Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875631G>T | CA371796199 | COX6C,VPS13B | c.*1688G>T (n.*1688G>T) n.12664G>T c.*7716G>T (n.*7716G>T) c.11959G>T (p.Val3987Leu) c.12034G>T (p.Val4012Leu) n.1536G>T c.*142-539C>A (n.*142-539C>A) c.*142-2338C>A (n.*142-2338C>A) c.12031G>T (p.Val4011Leu) c.11956G>T (p.Val3986Leu) c.11656G>T (p.Val3886Leu) c.8920G>T (p.Val2974Leu) c.7813G>T (p.Val2605Leu) c.11839G>T (p.Val3947Leu) c.7591G>T (p.Val2531Leu) c.10819G>T (p.Val3607Leu) | gnomAD v4 |
8 | g.99875632T>A | CA371796201 | COX6C,VPS13B | c.*1689T>A (n.*1689T>A) n.12665T>A c.*7717T>A (n.*7717T>A) c.11960T>A (p.Val3987Glu) c.12035T>A (p.Val4012Glu) n.1537T>A c.*142-540A>T (n.*142-540A>T) c.*142-2339A>T (n.*142-2339A>T) c.12032T>A (p.Val4011Glu) c.11957T>A (p.Val3986Glu) c.11657T>A (p.Val3886Glu) c.8921T>A (p.Val2974Glu) c.7814T>A (p.Val2605Glu) c.11840T>A (p.Val3947Glu) c.7592T>A (p.Val2531Glu) c.10820T>A (p.Val3607Glu) | |
8 | g.99875632T>C | CA371796203 | COX6C,VPS13B | c.*1689T>C (n.*1689T>C) n.12665T>C c.*7717T>C (n.*7717T>C) c.11960T>C (p.Val3987Ala) c.12035T>C (p.Val4012Ala) n.1537T>C c.*142-540A>G (n.*142-540A>G) c.*142-2339A>G (n.*142-2339A>G) c.12032T>C (p.Val4011Ala) c.11957T>C (p.Val3986Ala) c.11657T>C (p.Val3886Ala) c.8921T>C (p.Val2974Ala) c.7814T>C (p.Val2605Ala) c.11840T>C (p.Val3947Ala) c.7592T>C (p.Val2531Ala) c.10820T>C (p.Val3607Ala) | |
8 | g.99875632T>G | CA371796205 | COX6C,VPS13B | c.*1689T>G (n.*1689T>G) n.12665T>G c.*7717T>G (n.*7717T>G) c.11960T>G (p.Val3987Gly) c.12035T>G (p.Val4012Gly) n.1537T>G c.*142-540A>C (n.*142-540A>C) c.*142-2339A>C (n.*142-2339A>C) c.12032T>G (p.Val4011Gly) c.11957T>G (p.Val3986Gly) c.11657T>G (p.Val3886Gly) c.8921T>G (p.Val2974Gly) c.7814T>G (p.Val2605Gly) c.11840T>G (p.Val3947Gly) c.7592T>G (p.Val2531Gly) c.10820T>G (p.Val3607Gly) | |
8 | g.99875633G>A | CA462458731 | COX6C,VPS13B | c.*1690G>A (n.*1690G>A) n.12666G>A c.*7718G>A (n.*7718G>A) c.11961G>A (p.Val3987=) c.12036G>A (p.Val4012=) n.1538G>A c.*142-541C>T (n.*142-541C>T) c.*142-2340C>T (n.*142-2340C>T) c.12033G>A (p.Val4011=) c.11958G>A (p.Val3986=) c.11658G>A (p.Val3886=) c.8922G>A (p.Val2974=) c.7815G>A (p.Val2605=) c.11841G>A (p.Val3947=) c.7593G>A (p.Val2531=) c.10821G>A (p.Val3607=) | |
8 | g.99875633G>C | CA462458733 | COX6C,VPS13B | c.*1690G>C (n.*1690G>C) n.12666G>C c.*7718G>C (n.*7718G>C) c.11961G>C (p.Val3987=) c.12036G>C (p.Val4012=) n.1538G>C c.*142-541C>G (n.*142-541C>G) c.*142-2340C>G (n.*142-2340C>G) c.12033G>C (p.Val4011=) c.11958G>C (p.Val3986=) c.11658G>C (p.Val3886=) c.8922G>C (p.Val2974=) c.7815G>C (p.Val2605=) c.11841G>C (p.Val3947=) c.7593G>C (p.Val2531=) c.10821G>C (p.Val3607=) | |
8 | g.99875633G>T | CA462458734 | COX6C,VPS13B | c.*1690G>T (n.*1690G>T) n.12666G>T c.*7718G>T (n.*7718G>T) c.11961G>T (p.Val3987=) c.12036G>T (p.Val4012=) n.1538G>T c.*142-541C>A (n.*142-541C>A) c.*142-2340C>A (n.*142-2340C>A) c.12033G>T (p.Val4011=) c.11958G>T (p.Val3986=) c.11658G>T (p.Val3886=) c.8922G>T (p.Val2974=) c.7815G>T (p.Val2605=) c.11841G>T (p.Val3947=) c.7593G>T (p.Val2531=) c.10821G>T (p.Val3607=) | |
8 | g.99875633dup | CA913128163 | COX6C,VPS13B | c.*1690dup (n.*1690dup) n.12666dup c.*7718dup (n.*7718dup) c.11961dup (p.Lys3988GlufsTer3) c.12036dup (p.Lys4013GlufsTer3) n.1538dup c.*142-541dup (n.*142-541dup) c.*142-2340dup (n.*142-2340dup) c.12033dup (p.Lys4012GlufsTer3) c.11958dup (p.Lys3987GlufsTer3) c.11658dup (p.Lys3887GlufsTer3) c.8922dup (p.Lys2975GlufsTer3) c.7815dup (p.Lys2606GlufsTer3) c.11841dup (p.Lys3948GlufsTer3) c.7593dup (p.Lys2532GlufsTer3) c.10821dup (p.Lys3608GlufsTer3) | |
8 | g.99875634A>C | CA182335505 | COX6C,VPS13B | c.*1691A>C (n.*1691A>C) n.12667A>C c.*7719A>C (n.*7719A>C) c.11962A>C (p.Lys3988Gln) c.12037A>C (p.Lys4013Gln) n.1539A>C c.*142-542T>G (n.*142-542T>G) c.*142-2341T>G (n.*142-2341T>G) c.12034A>C (p.Lys4012Gln) c.11959A>C (p.Lys3987Gln) c.11659A>C (p.Lys3887Gln) c.8923A>C (p.Lys2975Gln) c.7816A>C (p.Lys2606Gln) c.11842A>C (p.Lys3948Gln) c.7594A>C (p.Lys2532Gln) c.10822A>C (p.Lys3608Gln) | dbSNP gnomAD v4 |
8 | g.99875634A>G | CA371796208 | COX6C,VPS13B | c.*1691A>G (n.*1691A>G) n.12667A>G c.*7719A>G (n.*7719A>G) c.11962A>G (p.Lys3988Glu) c.12037A>G (p.Lys4013Glu) n.1539A>G c.*142-542T>C (n.*142-542T>C) c.*142-2341T>C (n.*142-2341T>C) c.12034A>G (p.Lys4012Glu) c.11959A>G (p.Lys3987Glu) c.11659A>G (p.Lys3887Glu) c.8923A>G (p.Lys2975Glu) c.7816A>G (p.Lys2606Glu) c.11842A>G (p.Lys3948Glu) c.7594A>G (p.Lys2532Glu) c.10822A>G (p.Lys3608Glu) | |
8 | g.99875634A>T | CA371796210 | COX6C,VPS13B | c.*1691A>T (n.*1691A>T) n.12667A>T c.*7719A>T (n.*7719A>T) c.11962A>T (p.Lys3988Ter) c.12037A>T (p.Lys4013Ter) n.1539A>T c.*142-542T>A (n.*142-542T>A) c.*142-2341T>A (n.*142-2341T>A) c.12034A>T (p.Lys4012Ter) c.11959A>T (p.Lys3987Ter) c.11659A>T (p.Lys3887Ter) c.8923A>T (p.Lys2975Ter) c.7816A>T (p.Lys2606Ter) c.11842A>T (p.Lys3948Ter) c.7594A>T (p.Lys2532Ter) c.10822A>T (p.Lys3608Ter) | |
8 | g.99875638dup | CA913128164 | COX6C,VPS13B | c.*1695dup (n.*1695dup) n.12671dup c.*7723dup (n.*7723dup) c.11966dup (p.Asn3989LysfsTer2) c.12041dup (p.Asn4014LysfsTer2) n.1543dup c.*142-542dup (n.*142-542dup) c.*142-2341dup (n.*142-2341dup) c.12038dup (p.Asn4013LysfsTer2) c.11963dup (p.Asn3988LysfsTer2) c.11663dup (p.Asn3888LysfsTer2) c.8927dup (p.Asn2976LysfsTer2) c.7820dup (p.Asn2607LysfsTer2) c.11846dup (p.Asn3949LysfsTer2) c.7598dup (p.Asn2533LysfsTer2) c.10826dup (p.Asn3609LysfsTer2) | gnomAD v4 |
8 | g.99875637_99875638dup | CA658821999 | COX6C,VPS13B | c.*1694_*1695dup (n.*1694_*1695dup) n.12670_12671dup c.*7722_*7723dup (n.*7722_*7723dup) c.11965_11966dup (p.Asn3989LysfsTer5) c.12040_12041dup (p.Asn4014LysfsTer5) n.1542_1543dup c.*142-543_*142-542dup (n.*142-543_*142-542dup) c.*142-2342_*142-2341dup (n.*142-2342_*142-2341dup) c.12037_12038dup (p.Asn4013LysfsTer5) c.11962_11963dup (p.Asn3988LysfsTer5) c.11662_11663dup (p.Asn3888LysfsTer5) c.8926_8927dup (p.Asn2976LysfsTer5) c.7819_7820dup (p.Asn2607LysfsTer5) c.11845_11846dup (p.Asn3949LysfsTer5) c.7597_7598dup (p.Asn2533LysfsTer5) c.10825_10826dup (p.Asn3609LysfsTer5) | ClinVar dbSNP |
8 | g.99875638del | CA2579216520 | COX6C,VPS13B | c.*1695del (n.*1695del) n.12671del c.*7723del (n.*7723del) c.11966del (p.Asn3989IlefsTer4) c.12041del (p.Asn4014IlefsTer4) n.1543del c.*142-542del (n.*142-542del) c.*142-2341del (n.*142-2341del) c.12038del (p.Asn4013IlefsTer4) c.11963del (p.Asn3988IlefsTer4) c.11663del (p.Asn3888IlefsTer4) c.8927del (p.Asn2976IlefsTer4) c.7820del (p.Asn2607IlefsTer4) c.11846del (p.Asn3949IlefsTer4) c.7598del (p.Asn2533IlefsTer4) c.10826del (p.Asn3609IlefsTer4) | gnomAD v4 |
8 | g.99875635A>C | CA371796216 | COX6C,VPS13B | c.*1692A>C (n.*1692A>C) n.12668A>C c.*7720A>C (n.*7720A>C) c.11963A>C (p.Lys3988Thr) c.12038A>C (p.Lys4013Thr) n.1540A>C c.*142-543T>G (n.*142-543T>G) c.*142-2342T>G (n.*142-2342T>G) c.12035A>C (p.Lys4012Thr) c.11960A>C (p.Lys3987Thr) c.11660A>C (p.Lys3887Thr) c.8924A>C (p.Lys2975Thr) c.7817A>C (p.Lys2606Thr) c.11843A>C (p.Lys3948Thr) c.7595A>C (p.Lys2532Thr) c.10823A>C (p.Lys3608Thr) | |
8 | g.99875635A>G | CA371796212 | COX6C,VPS13B | c.*1692A>G (n.*1692A>G) n.12668A>G c.*7720A>G (n.*7720A>G) c.11963A>G (p.Lys3988Arg) c.12038A>G (p.Lys4013Arg) n.1540A>G c.*142-543T>C (n.*142-543T>C) c.*142-2342T>C (n.*142-2342T>C) c.12035A>G (p.Lys4012Arg) c.11960A>G (p.Lys3987Arg) c.11660A>G (p.Lys3887Arg) c.8924A>G (p.Lys2975Arg) c.7817A>G (p.Lys2606Arg) c.11843A>G (p.Lys3948Arg) c.7595A>G (p.Lys2532Arg) c.10823A>G (p.Lys3608Arg) | |
8 | g.99875635A>T | CA371796214 | COX6C,VPS13B | c.*1692A>T (n.*1692A>T) n.12668A>T c.*7720A>T (n.*7720A>T) c.11963A>T (p.Lys3988Ile) c.12038A>T (p.Lys4013Ile) n.1540A>T c.*142-543T>A (n.*142-543T>A) c.*142-2342T>A (n.*142-2342T>A) c.12035A>T (p.Lys4012Ile) c.11960A>T (p.Lys3987Ile) c.11660A>T (p.Lys3887Ile) c.8924A>T (p.Lys2975Ile) c.7817A>T (p.Lys2606Ile) c.11843A>T (p.Lys3948Ile) c.7595A>T (p.Lys2532Ile) c.10823A>T (p.Lys3608Ile) | |
8 | g.99875636A>C | CA371796219 | COX6C,VPS13B | c.*1693A>C (n.*1693A>C) n.12669A>C c.*7721A>C (n.*7721A>C) c.11964A>C (p.Lys3988Asn) c.12039A>C (p.Lys4013Asn) n.1541A>C c.*142-544T>G (n.*142-544T>G) c.*142-2343T>G (n.*142-2343T>G) c.12036A>C (p.Lys4012Asn) c.11961A>C (p.Lys3987Asn) c.11661A>C (p.Lys3887Asn) c.8925A>C (p.Lys2975Asn) c.7818A>C (p.Lys2606Asn) c.11844A>C (p.Lys3948Asn) c.7596A>C (p.Lys2532Asn) c.10824A>C (p.Lys3608Asn) | |
8 | g.99875636A>G | CA462458736 | COX6C,VPS13B | c.*1693A>G (n.*1693A>G) n.12669A>G c.*7721A>G (n.*7721A>G) c.11964A>G (p.Lys3988=) c.12039A>G (p.Lys4013=) n.1541A>G c.*142-544T>C (n.*142-544T>C) c.*142-2343T>C (n.*142-2343T>C) c.12036A>G (p.Lys4012=) c.11961A>G (p.Lys3987=) c.11661A>G (p.Lys3887=) c.8925A>G (p.Lys2975=) c.7818A>G (p.Lys2606=) c.11844A>G (p.Lys3948=) c.7596A>G (p.Lys2532=) c.10824A>G (p.Lys3608=) | gnomAD v4 |
8 | g.99875636A>T | CA371796221 | COX6C,VPS13B | c.*1693A>T (n.*1693A>T) n.12669A>T c.*7721A>T (n.*7721A>T) c.11964A>T (p.Lys3988Asn) c.12039A>T (p.Lys4013Asn) n.1541A>T c.*142-544T>A (n.*142-544T>A) c.*142-2343T>A (n.*142-2343T>A) c.12036A>T (p.Lys4012Asn) c.11961A>T (p.Lys3987Asn) c.11661A>T (p.Lys3887Asn) c.8925A>T (p.Lys2975Asn) c.7818A>T (p.Lys2606Asn) c.11844A>T (p.Lys3948Asn) c.7596A>T (p.Lys2532Asn) c.10824A>T (p.Lys3608Asn) | |
8 | g.99875639_99875642dup | CA4825382 | COX6C,VPS13B | c.*1696_*1699dup (n.*1696_*1699dup) n.12672_12675dup c.*7724_*7727dup (n.*7724_*7727dup) c.11967_11970dup (p.Ala3991Ter) c.12042_12045dup (p.Ala4016Ter) n.1544_1547dup c.*142-547_*142-544dup (n.*142-547_*142-544dup) c.*142-2346_*142-2343dup (n.*142-2346_*142-2343dup) c.12039_12042dup (p.Ala4015Ter) c.11964_11967dup (p.Ala3990Ter) c.11664_11667dup (p.Ala3890Ter) c.8928_8931dup (p.Ala2978Ter) c.7821_7824dup (p.Ala2609Ter) c.11847_11850dup (p.Ala3951Ter) c.7599_7602dup (p.Ala2535Ter) c.10827_10830dup (p.Ala3611Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875639_99875642del | CA4825383 | COX6C,VPS13B | c.*1696_*1699del (n.*1696_*1699del) n.12672_12675del c.*7724_*7727del (n.*7724_*7727del) c.11967_11970del (p.Asn3989LysfsTer3) c.12042_12045del (p.Asn4014LysfsTer3) n.1544_1547del c.*142-547_*142-544del (n.*142-547_*142-544del) c.*142-2346_*142-2343del (n.*142-2346_*142-2343del) c.12039_12042del (p.Asn4013LysfsTer3) c.11964_11967del (p.Asn3988LysfsTer3) c.11664_11667del (p.Asn3888LysfsTer3) c.8928_8931del (p.Asn2976LysfsTer3) c.7821_7824del (p.Asn2607LysfsTer3) c.11847_11850del (p.Asn3949LysfsTer3) c.7599_7602del (p.Asn2533LysfsTer3) c.10827_10830del (p.Asn3609LysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99875636_99875656dup | CA658822000 | COX6C,VPS13B | c.*1693_*1713dup (n.*1693_*1713dup) n.12669_12689dup c.*7721_*7741dup (n.*7721_*7741dup) c.11964_11984dup (p.Gly3995_Phe3996insAsnLysAlaLeuArgLysGly) c.12039_12059dup (p.Gly4020_Phe4021insAsnLysAlaLeuArgLysGly) n.1541_1561dup c.*142-564_*142-544dup (n.*142-564_*142-544dup) c.*142-2363_*142-2343dup (n.*142-2363_*142-2343dup) c.12036_12056dup (p.Gly4019_Phe4020insAsnLysAlaLeuArgLysGly) c.11961_11981dup (p.Gly3994_Phe3995insAsnLysAlaLeuArgLysGly) c.11661_11681dup (p.Gly3894_Phe3895insAsnLysAlaLeuArgLysGly) c.8925_8945dup (p.Gly2982_Phe2983insAsnLysAlaLeuArgLysGly) c.7818_7838dup (p.Gly2613_Phe2614insAsnLysAlaLeuArgLysGly) c.11844_11864dup (p.Gly3955_Phe3956insAsnLysAlaLeuArgLysGly) c.7596_7616dup (p.Gly2539_Phe2540insAsnLysAlaLeuArgLysGly) c.10824_10844dup (p.Gly3615_Phe3616insAsnLysAlaLeuArgLysGly) | ClinVar dbSNP |
8 | g.99875637A>C | CA371796224 | COX6C,VPS13B | c.*1694A>C (n.*1694A>C) n.12670A>C c.*7722A>C (n.*7722A>C) c.11965A>C (p.Asn3989His) c.12040A>C (p.Asn4014His) n.1542A>C c.*142-545T>G (n.*142-545T>G) c.*142-2344T>G (n.*142-2344T>G) c.12037A>C (p.Asn4013His) c.11962A>C (p.Asn3988His) c.11662A>C (p.Asn3888His) c.8926A>C (p.Asn2976His) c.7819A>C (p.Asn2607His) c.11845A>C (p.Asn3949His) c.7597A>C (p.Asn2533His) c.10825A>C (p.Asn3609His) | |
8 | g.99875637A>G | CA371796226 | COX6C,VPS13B | c.*1694A>G (n.*1694A>G) n.12670A>G c.*7722A>G (n.*7722A>G) c.11965A>G (p.Asn3989Asp) c.12040A>G (p.Asn4014Asp) n.1542A>G c.*142-545T>C (n.*142-545T>C) c.*142-2344T>C (n.*142-2344T>C) c.12037A>G (p.Asn4013Asp) c.11962A>G (p.Asn3988Asp) c.11662A>G (p.Asn3888Asp) c.8926A>G (p.Asn2976Asp) c.7819A>G (p.Asn2607Asp) c.11845A>G (p.Asn3949Asp) c.7597A>G (p.Asn2533Asp) c.10825A>G (p.Asn3609Asp) | |
8 | g.99875637A>T | CA371796228 | COX6C,VPS13B | c.*1694A>T (n.*1694A>T) n.12670A>T c.*7722A>T (n.*7722A>T) c.11965A>T (p.Asn3989Tyr) c.12040A>T (p.Asn4014Tyr) n.1542A>T c.*142-545T>A (n.*142-545T>A) c.*142-2344T>A (n.*142-2344T>A) c.12037A>T (p.Asn4013Tyr) c.11962A>T (p.Asn3988Tyr) c.11662A>T (p.Asn3888Tyr) c.8926A>T (p.Asn2976Tyr) c.7819A>T (p.Asn2607Tyr) c.11845A>T (p.Asn3949Tyr) c.7597A>T (p.Asn2533Tyr) c.10825A>T (p.Asn3609Tyr) | |
8 | g.99875639_99875641dup | CA913128165 | COX6C,VPS13B | c.*1696_*1698dup (n.*1696_*1698dup) n.12672_12674dup c.*7724_*7726dup (n.*7724_*7726dup) c.11967_11969dup (p.Asn3989_Lys3990insAsn) c.12042_12044dup (p.Asn4014_Lys4015insAsn) n.1544_1546dup c.*142-547_*142-545dup (n.*142-547_*142-545dup) c.*142-2346_*142-2344dup (n.*142-2346_*142-2344dup) c.12039_12041dup (p.Asn4013_Lys4014insAsn) c.11964_11966dup (p.Asn3988_Lys3989insAsn) c.11664_11666dup (p.Asn3888_Lys3889insAsn) c.8928_8930dup (p.Asn2976_Lys2977insAsn) c.7821_7823dup (p.Asn2607_Lys2608insAsn) c.11847_11849dup (p.Asn3949_Lys3950insAsn) c.7599_7601dup (p.Asn2533_Lys2534insAsn) c.10827_10829dup (p.Asn3609_Lys3610insAsn) | ClinVar dbSNP gnomAD v4 |
8 | g.99875638A>C | CA371796230 | COX6C,VPS13B | c.*1695A>C (n.*1695A>C) n.12671A>C c.*7723A>C (n.*7723A>C) c.11966A>C (p.Asn3989Thr) c.12041A>C (p.Asn4014Thr) n.1543A>C c.*142-546T>G (n.*142-546T>G) c.*142-2345T>G (n.*142-2345T>G) c.12038A>C (p.Asn4013Thr) c.11963A>C (p.Asn3988Thr) c.11663A>C (p.Asn3888Thr) c.8927A>C (p.Asn2976Thr) c.7820A>C (p.Asn2607Thr) c.11846A>C (p.Asn3949Thr) c.7598A>C (p.Asn2533Thr) c.10826A>C (p.Asn3609Thr) | |
8 | g.99875638A>G | CA371796232 | COX6C,VPS13B | c.*1695A>G (n.*1695A>G) n.12671A>G c.*7723A>G (n.*7723A>G) c.11966A>G (p.Asn3989Ser) c.12041A>G (p.Asn4014Ser) n.1543A>G c.*142-546T>C (n.*142-546T>C) c.*142-2345T>C (n.*142-2345T>C) c.12038A>G (p.Asn4013Ser) c.11963A>G (p.Asn3988Ser) c.11663A>G (p.Asn3888Ser) c.8927A>G (p.Asn2976Ser) c.7820A>G (p.Asn2607Ser) c.11846A>G (p.Asn3949Ser) c.7598A>G (p.Asn2533Ser) c.10826A>G (p.Asn3609Ser) | |
8 | g.99875638A>T | CA371796234 | COX6C,VPS13B | c.*1695A>T (n.*1695A>T) n.12671A>T c.*7723A>T (n.*7723A>T) c.11966A>T (p.Asn3989Ile) c.12041A>T (p.Asn4014Ile) n.1543A>T c.*142-546T>A (n.*142-546T>A) c.*142-2345T>A (n.*142-2345T>A) c.12038A>T (p.Asn4013Ile) c.11963A>T (p.Asn3988Ile) c.11663A>T (p.Asn3888Ile) c.8927A>T (p.Asn2976Ile) c.7820A>T (p.Asn2607Ile) c.11846A>T (p.Asn3949Ile) c.7598A>T (p.Asn2533Ile) c.10826A>T (p.Asn3609Ile) | |
8 | g.99875639_99875640dup | CA658822001 | COX6C,VPS13B | c.*1696_*1697dup (n.*1696_*1697dup) n.12672_12673dup c.*7724_*7725dup (n.*7724_*7725dup) c.11967_11968dup (p.Lys3990IlefsTer4) c.12042_12043dup (p.Lys4015IlefsTer4) n.1544_1545dup c.*142-547_*142-546dup (n.*142-547_*142-546dup) c.*142-2346_*142-2345dup (n.*142-2346_*142-2345dup) c.12039_12040dup (p.Lys4014IlefsTer4) c.11964_11965dup (p.Lys3989IlefsTer4) c.11664_11665dup (p.Lys3889IlefsTer4) c.8928_8929dup (p.Lys2977IlefsTer4) c.7821_7822dup (p.Lys2608IlefsTer4) c.11847_11848dup (p.Lys3950IlefsTer4) c.7599_7600dup (p.Lys2534IlefsTer4) c.10827_10828dup (p.Lys3610IlefsTer4) | ClinVar dbSNP |
8 | g.99875639T>A | CA371796236 | COX6C,VPS13B | c.*1696T>A (n.*1696T>A) n.12672T>A c.*7724T>A (n.*7724T>A) c.11967T>A (p.Asn3989Lys) c.12042T>A (p.Asn4014Lys) n.1544T>A c.*142-547A>T (n.*142-547A>T) c.*142-2346A>T (n.*142-2346A>T) c.12039T>A (p.Asn4013Lys) c.11964T>A (p.Asn3988Lys) c.11664T>A (p.Asn3888Lys) c.8928T>A (p.Asn2976Lys) c.7821T>A (p.Asn2607Lys) c.11847T>A (p.Asn3949Lys) c.7599T>A (p.Asn2533Lys) c.10827T>A (p.Asn3609Lys) | |
8 | g.99875639T>C | CA462458740 | COX6C,VPS13B | c.*1696T>C (n.*1696T>C) n.12672T>C c.*7724T>C (n.*7724T>C) c.11967T>C (p.Asn3989=) c.12042T>C (p.Asn4014=) n.1544T>C c.*142-547A>G (n.*142-547A>G) c.*142-2346A>G (n.*142-2346A>G) c.12039T>C (p.Asn4013=) c.11964T>C (p.Asn3988=) c.11664T>C (p.Asn3888=) c.8928T>C (p.Asn2976=) c.7821T>C (p.Asn2607=) c.11847T>C (p.Asn3949=) c.7599T>C (p.Asn2533=) c.10827T>C (p.Asn3609=) | |
8 | g.99875639T>G | CA371796238 | COX6C,VPS13B | c.*1696T>G (n.*1696T>G) n.12672T>G c.*7724T>G (n.*7724T>G) c.11967T>G (p.Asn3989Lys) c.12042T>G (p.Asn4014Lys) n.1544T>G c.*142-547A>C (n.*142-547A>C) c.*142-2346A>C (n.*142-2346A>C) c.12039T>G (p.Asn4013Lys) c.11964T>G (p.Asn3988Lys) c.11664T>G (p.Asn3888Lys) c.8928T>G (p.Asn2976Lys) c.7821T>G (p.Asn2607Lys) c.11847T>G (p.Asn3949Lys) c.7599T>G (p.Asn2533Lys) c.10827T>G (p.Asn3609Lys) | |
8 | g.99875640A>C | CA371796245 | COX6C,VPS13B | c.*1697A>C (n.*1697A>C) n.12673A>C c.*7725A>C (n.*7725A>C) c.11968A>C (p.Lys3990Gln) c.12043A>C (p.Lys4015Gln) n.1545A>C c.*142-548T>G (n.*142-548T>G) c.*142-2347T>G (n.*142-2347T>G) c.12040A>C (p.Lys4014Gln) c.11965A>C (p.Lys3989Gln) c.11665A>C (p.Lys3889Gln) c.8929A>C (p.Lys2977Gln) c.7822A>C (p.Lys2608Gln) c.11848A>C (p.Lys3950Gln) c.7600A>C (p.Lys2534Gln) c.10828A>C (p.Lys3610Gln) | |
8 | g.99875640A>G | CA371796242 | COX6C,VPS13B | c.*1697A>G (n.*1697A>G) n.12673A>G c.*7725A>G (n.*7725A>G) c.11968A>G (p.Lys3990Glu) c.12043A>G (p.Lys4015Glu) n.1545A>G c.*142-548T>C (n.*142-548T>C) c.*142-2347T>C (n.*142-2347T>C) c.12040A>G (p.Lys4014Glu) c.11965A>G (p.Lys3989Glu) c.11665A>G (p.Lys3889Glu) c.8929A>G (p.Lys2977Glu) c.7822A>G (p.Lys2608Glu) c.11848A>G (p.Lys3950Glu) c.7600A>G (p.Lys2534Glu) c.10828A>G (p.Lys3610Glu) | |
8 | g.99875640A>T | CA371796240 | COX6C,VPS13B | c.*1697A>T (n.*1697A>T) n.12673A>T c.*7725A>T (n.*7725A>T) c.11968A>T (p.Lys3990Ter) c.12043A>T (p.Lys4015Ter) n.1545A>T c.*142-548T>A (n.*142-548T>A) c.*142-2347T>A (n.*142-2347T>A) c.12040A>T (p.Lys4014Ter) c.11965A>T (p.Lys3989Ter) c.11665A>T (p.Lys3889Ter) c.8929A>T (p.Lys2977Ter) c.7822A>T (p.Lys2608Ter) c.11848A>T (p.Lys3950Ter) c.7600A>T (p.Lys2534Ter) c.10828A>T (p.Lys3610Ter) | |
8 | g.99875642dup | CA4825384 | COX6C,VPS13B | c.*1699dup (n.*1699dup) n.12675dup c.*7727dup (n.*7727dup) c.11970dup (p.Ala3991SerfsTer12) c.12045dup (p.Ala4016SerfsTer12) n.1547dup c.*142-548dup (n.*142-548dup) c.*142-2347dup (n.*142-2347dup) c.12042dup (p.Ala4015SerfsTer12) c.11967dup (p.Ala3990SerfsTer12) c.11667dup (p.Ala3890SerfsTer12) c.8931dup (p.Ala2978SerfsTer12) c.7824dup (p.Ala2609SerfsTer12) c.11850dup (p.Ala3951SerfsTer12) c.7602dup (p.Ala2535SerfsTer12) c.10830dup (p.Ala3611SerfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |