UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99875401_99875511del | CA2688072211 | COX6C,VPS13B | c.*1475-17_*1568del n.12451-17_12544del c.*7503-17_*7596del c.11746-17_11839del c.11821-17_11914del n.1323-17_1416del c.*142-419_*142-309del (n.*142-419_*142-309del) c.*142-2218_*142-2108del (n.*142-2218_*142-2108del) c.11818-17_11911del c.11743-17_11836del c.11443-17_11536del c.8707-17_8800del c.7600-17_7693del c.11626-17_11719del c.7378-17_7471del c.10606-17_10699del | gnomAD v4 |
| 8 | g.99875461G>A | CA371795554 | COX6C,VPS13B | c.*1518G>A (n.*1518G>A) n.12494G>A c.*7546G>A (n.*7546G>A) c.11789G>A (p.Arg3930Lys) c.11864G>A (p.Arg3955Lys) n.1366G>A c.*142-369C>T (n.*142-369C>T) c.*142-2168C>T (n.*142-2168C>T) c.11861G>A (p.Arg3954Lys) c.11786G>A (p.Arg3929Lys) c.11486G>A (p.Arg3829Lys) c.8750G>A (p.Arg2917Lys) c.7643G>A (p.Arg2548Lys) c.11669G>A (p.Arg3890Lys) c.7421G>A (p.Arg2474Lys) c.10649G>A (p.Arg3550Lys) | |
| 8 | g.99875461G>C | CA371795555 | COX6C,VPS13B | c.*1518G>C (n.*1518G>C) n.12494G>C c.*7546G>C (n.*7546G>C) c.11789G>C (p.Arg3930Thr) c.11864G>C (p.Arg3955Thr) n.1366G>C c.*142-369C>G (n.*142-369C>G) c.*142-2168C>G (n.*142-2168C>G) c.11861G>C (p.Arg3954Thr) c.11786G>C (p.Arg3929Thr) c.11486G>C (p.Arg3829Thr) c.8750G>C (p.Arg2917Thr) c.7643G>C (p.Arg2548Thr) c.11669G>C (p.Arg3890Thr) c.7421G>C (p.Arg2474Thr) c.10649G>C (p.Arg3550Thr) | |
| 8 | g.99875461G>T | CA371795556 | COX6C,VPS13B | c.*1518G>T (n.*1518G>T) n.12494G>T c.*7546G>T (n.*7546G>T) c.11789G>T (p.Arg3930Ile) c.11864G>T (p.Arg3955Ile) n.1366G>T c.*142-369C>A (n.*142-369C>A) c.*142-2168C>A (n.*142-2168C>A) c.11861G>T (p.Arg3954Ile) c.11786G>T (p.Arg3929Ile) c.11486G>T (p.Arg3829Ile) c.8750G>T (p.Arg2917Ile) c.7643G>T (p.Arg2548Ile) c.11669G>T (p.Arg3890Ile) c.7421G>T (p.Arg2474Ile) c.10649G>T (p.Arg3550Ile) | |
| 8 | g.99875462A>C | CA371795557 | COX6C,VPS13B | c.*1519A>C (n.*1519A>C) n.12495A>C c.*7547A>C (n.*7547A>C) c.11790A>C (p.Arg3930Ser) c.11865A>C (p.Arg3955Ser) n.1367A>C c.*142-370T>G (n.*142-370T>G) c.*142-2169T>G (n.*142-2169T>G) c.11862A>C (p.Arg3954Ser) c.11787A>C (p.Arg3929Ser) c.11487A>C (p.Arg3829Ser) c.8751A>C (p.Arg2917Ser) c.7644A>C (p.Arg2548Ser) c.11670A>C (p.Arg3890Ser) c.7422A>C (p.Arg2474Ser) c.10650A>C (p.Arg3550Ser) | |
| 8 | g.99875462A>G | CA462458562 | COX6C,VPS13B | c.*1519A>G (n.*1519A>G) n.12495A>G c.*7547A>G (n.*7547A>G) c.11790A>G (p.Arg3930=) c.11865A>G (p.Arg3955=) n.1367A>G c.*142-370T>C (n.*142-370T>C) c.*142-2169T>C (n.*142-2169T>C) c.11862A>G (p.Arg3954=) c.11787A>G (p.Arg3929=) c.11487A>G (p.Arg3829=) c.8751A>G (p.Arg2917=) c.7644A>G (p.Arg2548=) c.11670A>G (p.Arg3890=) c.7422A>G (p.Arg2474=) c.10650A>G (p.Arg3550=) | |
| 8 | g.99875462A>T | CA182335220 | COX6C,VPS13B | c.*1519A>T (n.*1519A>T) n.12495A>T c.*7547A>T (n.*7547A>T) c.11790A>T (p.Arg3930Ser) c.11865A>T (p.Arg3955Ser) n.1367A>T c.*142-370T>A (n.*142-370T>A) c.*142-2169T>A (n.*142-2169T>A) c.11862A>T (p.Arg3954Ser) c.11787A>T (p.Arg3929Ser) c.11487A>T (p.Arg3829Ser) c.8751A>T (p.Arg2917Ser) c.7644A>T (p.Arg2548Ser) c.11670A>T (p.Arg3890Ser) c.7422A>T (p.Arg2474Ser) c.10650A>T (p.Arg3550Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99875463C>A | CA371795558 | COX6C,VPS13B | c.*1520C>A (n.*1520C>A) n.12496C>A c.*7548C>A (n.*7548C>A) c.11791C>A (p.Leu3931Met) c.11866C>A (p.Leu3956Met) n.1368C>A c.*142-371G>T (n.*142-371G>T) c.*142-2170G>T (n.*142-2170G>T) c.11863C>A (p.Leu3955Met) c.11788C>A (p.Leu3930Met) c.11488C>A (p.Leu3830Met) c.8752C>A (p.Leu2918Met) c.7645C>A (p.Leu2549Met) c.11671C>A (p.Leu3891Met) c.7423C>A (p.Leu2475Met) c.10651C>A (p.Leu3551Met) | |
| 8 | g.99875463C>G | CA371795559 | COX6C,VPS13B | c.*1520C>G (n.*1520C>G) n.12496C>G c.*7548C>G (n.*7548C>G) c.11791C>G (p.Leu3931Val) c.11866C>G (p.Leu3956Val) n.1368C>G c.*142-371G>C (n.*142-371G>C) c.*142-2170G>C (n.*142-2170G>C) c.11863C>G (p.Leu3955Val) c.11788C>G (p.Leu3930Val) c.11488C>G (p.Leu3830Val) c.8752C>G (p.Leu2918Val) c.7645C>G (p.Leu2549Val) c.11671C>G (p.Leu3891Val) c.7423C>G (p.Leu2475Val) c.10651C>G (p.Leu3551Val) | |
| 8 | g.99875463C>T | CA462458565 | COX6C,VPS13B | c.*1520C>T (n.*1520C>T) n.12496C>T c.*7548C>T (n.*7548C>T) c.11791C>T (p.Leu3931=) c.11866C>T (p.Leu3956=) n.1368C>T c.*142-371G>A (n.*142-371G>A) c.*142-2170G>A (n.*142-2170G>A) c.11863C>T (p.Leu3955=) c.11788C>T (p.Leu3930=) c.11488C>T (p.Leu3830=) c.8752C>T (p.Leu2918=) c.7645C>T (p.Leu2549=) c.11671C>T (p.Leu3891=) c.7423C>T (p.Leu2475=) c.10651C>T (p.Leu3551=) | |
| 8 | g.99875465_99875513dup | CA2688072326 | COX6C,VPS13B | c.*1522_*1570dup (n.*1522_*1570dup) n.12498_12546dup c.*7550_*7598dup (n.*7550_*7598dup) c.11793_11841dup (p.Ser3948GlyfsTer35) c.11868_11916dup (p.Ser3973GlyfsTer35) n.1370_1418dup c.*142-419_*142-371dup (n.*142-419_*142-371dup) c.*142-2218_*142-2170dup (n.*142-2218_*142-2170dup) c.11865_11913dup (p.Ser3972GlyfsTer35) c.11790_11838dup (p.Ser3947GlyfsTer35) c.11490_11538dup (p.Ser3847GlyfsTer35) c.8754_8802dup (p.Ser2935GlyfsTer35) c.7647_7695dup (p.Ser2566GlyfsTer35) c.11673_11721dup (p.Ser3908GlyfsTer35) c.7425_7473dup (p.Ser2492GlyfsTer35) c.10653_10701dup (p.Ser3568GlyfsTer35) | gnomAD v4 |
| 8 | g.99875464T>A | CA371795560 | COX6C,VPS13B | c.*1521T>A (n.*1521T>A) n.12497T>A c.*7549T>A (n.*7549T>A) c.11792T>A (p.Leu3931Gln) c.11867T>A (p.Leu3956Gln) n.1369T>A c.*142-372A>T (n.*142-372A>T) c.*142-2171A>T (n.*142-2171A>T) c.11864T>A (p.Leu3955Gln) c.11789T>A (p.Leu3930Gln) c.11489T>A (p.Leu3830Gln) c.8753T>A (p.Leu2918Gln) c.7646T>A (p.Leu2549Gln) c.11672T>A (p.Leu3891Gln) c.7424T>A (p.Leu2475Gln) c.10652T>A (p.Leu3551Gln) | |
| 8 | g.99875464T>C | CA371795561 | COX6C,VPS13B | c.*1521T>C (n.*1521T>C) n.12497T>C c.*7549T>C (n.*7549T>C) c.11792T>C (p.Leu3931Pro) c.11867T>C (p.Leu3956Pro) n.1369T>C c.*142-372A>G (n.*142-372A>G) c.*142-2171A>G (n.*142-2171A>G) c.11864T>C (p.Leu3955Pro) c.11789T>C (p.Leu3930Pro) c.11489T>C (p.Leu3830Pro) c.8753T>C (p.Leu2918Pro) c.7646T>C (p.Leu2549Pro) c.11672T>C (p.Leu3891Pro) c.7424T>C (p.Leu2475Pro) c.10652T>C (p.Leu3551Pro) | |
| 8 | g.99875464T>G | CA371795562 | COX6C,VPS13B | c.*1521T>G (n.*1521T>G) n.12497T>G c.*7549T>G (n.*7549T>G) c.11792T>G (p.Leu3931Arg) c.11867T>G (p.Leu3956Arg) n.1369T>G c.*142-372A>C (n.*142-372A>C) c.*142-2171A>C (n.*142-2171A>C) c.11864T>G (p.Leu3955Arg) c.11789T>G (p.Leu3930Arg) c.11489T>G (p.Leu3830Arg) c.8753T>G (p.Leu2918Arg) c.7646T>G (p.Leu2549Arg) c.11672T>G (p.Leu3891Arg) c.7424T>G (p.Leu2475Arg) c.10652T>G (p.Leu3551Arg) | |
| 8 | g.99875465G>A | CA462458569 | COX6C,VPS13B | c.*1522G>A (n.*1522G>A) n.12498G>A c.*7550G>A (n.*7550G>A) c.11793G>A (p.Leu3931=) c.11868G>A (p.Leu3956=) n.1370G>A c.*142-373C>T (n.*142-373C>T) c.*142-2172C>T (n.*142-2172C>T) c.11865G>A (p.Leu3955=) c.11790G>A (p.Leu3930=) c.11490G>A (p.Leu3830=) c.8754G>A (p.Leu2918=) c.7647G>A (p.Leu2549=) c.11673G>A (p.Leu3891=) c.7425G>A (p.Leu2475=) c.10653G>A (p.Leu3551=) | ClinVar gnomAD v4 |
| 8 | g.99875465G>C | CA462458571 | COX6C,VPS13B | c.*1522G>C (n.*1522G>C) n.12498G>C c.*7550G>C (n.*7550G>C) c.11793G>C (p.Leu3931=) c.11868G>C (p.Leu3956=) n.1370G>C c.*142-373C>G (n.*142-373C>G) c.*142-2172C>G (n.*142-2172C>G) c.11865G>C (p.Leu3955=) c.11790G>C (p.Leu3930=) c.11490G>C (p.Leu3830=) c.8754G>C (p.Leu2918=) c.7647G>C (p.Leu2549=) c.11673G>C (p.Leu3891=) c.7425G>C (p.Leu2475=) c.10653G>C (p.Leu3551=) | |
| 8 | g.99875465G>T | CA462458570 | COX6C,VPS13B | c.*1522G>T (n.*1522G>T) n.12498G>T c.*7550G>T (n.*7550G>T) c.11793G>T (p.Leu3931=) c.11868G>T (p.Leu3956=) n.1370G>T c.*142-373C>A (n.*142-373C>A) c.*142-2172C>A (n.*142-2172C>A) c.11865G>T (p.Leu3955=) c.11790G>T (p.Leu3930=) c.11490G>T (p.Leu3830=) c.8754G>T (p.Leu2918=) c.7647G>T (p.Leu2549=) c.11673G>T (p.Leu3891=) c.7425G>T (p.Leu2475=) c.10653G>T (p.Leu3551=) | dbSNP |
| 8 | g.99875466G>A | CA371795565 | COX6C,VPS13B | c.*1523G>A (n.*1523G>A) n.12499G>A c.*7551G>A (n.*7551G>A) c.11794G>A (p.Val3932Met) c.11869G>A (p.Val3957Met) n.1371G>A c.*142-374C>T (n.*142-374C>T) c.*142-2173C>T (n.*142-2173C>T) c.11866G>A (p.Val3956Met) c.11791G>A (p.Val3931Met) c.11491G>A (p.Val3831Met) c.8755G>A (p.Val2919Met) c.7648G>A (p.Val2550Met) c.11674G>A (p.Val3892Met) c.7426G>A (p.Val2476Met) c.10654G>A (p.Val3552Met) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99875466G>C | CA371795564 | COX6C,VPS13B | c.*1523G>C (n.*1523G>C) n.12499G>C c.*7551G>C (n.*7551G>C) c.11794G>C (p.Val3932Leu) c.11869G>C (p.Val3957Leu) n.1371G>C c.*142-374C>G (n.*142-374C>G) c.*142-2173C>G (n.*142-2173C>G) c.11866G>C (p.Val3956Leu) c.11791G>C (p.Val3931Leu) c.11491G>C (p.Val3831Leu) c.8755G>C (p.Val2919Leu) c.7648G>C (p.Val2550Leu) c.11674G>C (p.Val3892Leu) c.7426G>C (p.Val2476Leu) c.10654G>C (p.Val3552Leu) | |
| 8 | g.99875466G>T | CA371795563 | COX6C,VPS13B | c.*1523G>T (n.*1523G>T) n.12499G>T c.*7551G>T (n.*7551G>T) c.11794G>T (p.Val3932Leu) c.11869G>T (p.Val3957Leu) n.1371G>T c.*142-374C>A (n.*142-374C>A) c.*142-2173C>A (n.*142-2173C>A) c.11866G>T (p.Val3956Leu) c.11791G>T (p.Val3931Leu) c.11491G>T (p.Val3831Leu) c.8755G>T (p.Val2919Leu) c.7648G>T (p.Val2550Leu) c.11674G>T (p.Val3892Leu) c.7426G>T (p.Val2476Leu) c.10654G>T (p.Val3552Leu) | |
| 8 | g.99875467T>A | CA371795566 | COX6C,VPS13B | c.*1524T>A (n.*1524T>A) n.12500T>A c.*7552T>A (n.*7552T>A) c.11795T>A (p.Val3932Glu) c.11870T>A (p.Val3957Glu) n.1372T>A c.*142-375A>T (n.*142-375A>T) c.*142-2174A>T (n.*142-2174A>T) c.11867T>A (p.Val3956Glu) c.11792T>A (p.Val3931Glu) c.11492T>A (p.Val3831Glu) c.8756T>A (p.Val2919Glu) c.7649T>A (p.Val2550Glu) c.11675T>A (p.Val3892Glu) c.7427T>A (p.Val2476Glu) c.10655T>A (p.Val3552Glu) | |
| 8 | g.99875467T>C | CA371795567 | COX6C,VPS13B | c.*1524T>C (n.*1524T>C) n.12500T>C c.*7552T>C (n.*7552T>C) c.11795T>C (p.Val3932Ala) c.11870T>C (p.Val3957Ala) n.1372T>C c.*142-375A>G (n.*142-375A>G) c.*142-2174A>G (n.*142-2174A>G) c.11867T>C (p.Val3956Ala) c.11792T>C (p.Val3931Ala) c.11492T>C (p.Val3831Ala) c.8756T>C (p.Val2919Ala) c.7649T>C (p.Val2550Ala) c.11675T>C (p.Val3892Ala) c.7427T>C (p.Val2476Ala) c.10655T>C (p.Val3552Ala) | |
| 8 | g.99875467T>G | CA371795568 | COX6C,VPS13B | c.*1524T>G (n.*1524T>G) n.12500T>G c.*7552T>G (n.*7552T>G) c.11795T>G (p.Val3932Gly) c.11870T>G (p.Val3957Gly) n.1372T>G c.*142-375A>C (n.*142-375A>C) c.*142-2174A>C (n.*142-2174A>C) c.11867T>G (p.Val3956Gly) c.11792T>G (p.Val3931Gly) c.11492T>G (p.Val3831Gly) c.8756T>G (p.Val2919Gly) c.7649T>G (p.Val2550Gly) c.11675T>G (p.Val3892Gly) c.7427T>G (p.Val2476Gly) c.10655T>G (p.Val3552Gly) | |
| 8 | g.99875468G>A | CA462458575 | COX6C,VPS13B | c.*1525G>A (n.*1525G>A) n.12501G>A c.*7553G>A (n.*7553G>A) c.11796G>A (p.Val3932=) c.11871G>A (p.Val3957=) n.1373G>A c.*142-376C>T (n.*142-376C>T) c.*142-2175C>T (n.*142-2175C>T) c.11868G>A (p.Val3956=) c.11793G>A (p.Val3931=) c.11493G>A (p.Val3831=) c.8757G>A (p.Val2919=) c.7650G>A (p.Val2550=) c.11676G>A (p.Val3892=) c.7428G>A (p.Val2476=) c.10656G>A (p.Val3552=) | |
| 8 | g.99875468G>C | CA462458577 | COX6C,VPS13B | c.*1525G>C (n.*1525G>C) n.12501G>C c.*7553G>C (n.*7553G>C) c.11796G>C (p.Val3932=) c.11871G>C (p.Val3957=) n.1373G>C c.*142-376C>G (n.*142-376C>G) c.*142-2175C>G (n.*142-2175C>G) c.11868G>C (p.Val3956=) c.11793G>C (p.Val3931=) c.11493G>C (p.Val3831=) c.8757G>C (p.Val2919=) c.7650G>C (p.Val2550=) c.11676G>C (p.Val3892=) c.7428G>C (p.Val2476=) c.10656G>C (p.Val3552=) | |
| 8 | g.99875468G>T | CA462458578 | COX6C,VPS13B | c.*1525G>T (n.*1525G>T) n.12501G>T c.*7553G>T (n.*7553G>T) c.11796G>T (p.Val3932=) c.11871G>T (p.Val3957=) n.1373G>T c.*142-376C>A (n.*142-376C>A) c.*142-2175C>A (n.*142-2175C>A) c.11868G>T (p.Val3956=) c.11793G>T (p.Val3931=) c.11493G>T (p.Val3831=) c.8757G>T (p.Val2919=) c.7650G>T (p.Val2550=) c.11676G>T (p.Val3892=) c.7428G>T (p.Val2476=) c.10656G>T (p.Val3552=) | |
| 8 | g.99875469G>A | CA182335224 | COX6C,VPS13B | c.*1526G>A (n.*1526G>A) n.12502G>A c.*7554G>A (n.*7554G>A) c.11797G>A (p.Asp3933Asn) c.11872G>A (p.Asp3958Asn) n.1374G>A c.*142-377C>T (n.*142-377C>T) c.*142-2176C>T (n.*142-2176C>T) c.11869G>A (p.Asp3957Asn) c.11794G>A (p.Asp3932Asn) c.11494G>A (p.Asp3832Asn) c.8758G>A (p.Asp2920Asn) c.7651G>A (p.Asp2551Asn) c.11677G>A (p.Asp3893Asn) c.7429G>A (p.Asp2477Asn) c.10657G>A (p.Asp3553Asn) | dbSNP |
| 8 | g.99875469G>C | CA371795569 | COX6C,VPS13B | c.*1526G>C (n.*1526G>C) n.12502G>C c.*7554G>C (n.*7554G>C) c.11797G>C (p.Asp3933His) c.11872G>C (p.Asp3958His) n.1374G>C c.*142-377C>G (n.*142-377C>G) c.*142-2176C>G (n.*142-2176C>G) c.11869G>C (p.Asp3957His) c.11794G>C (p.Asp3932His) c.11494G>C (p.Asp3832His) c.8758G>C (p.Asp2920His) c.7651G>C (p.Asp2551His) c.11677G>C (p.Asp3893His) c.7429G>C (p.Asp2477His) c.10657G>C (p.Asp3553His) | |
| 8 | g.99875469G>T | CA371795570 | COX6C,VPS13B | c.*1526G>T (n.*1526G>T) n.12502G>T c.*7554G>T (n.*7554G>T) c.11797G>T (p.Asp3933Tyr) c.11872G>T (p.Asp3958Tyr) n.1374G>T c.*142-377C>A (n.*142-377C>A) c.*142-2176C>A (n.*142-2176C>A) c.11869G>T (p.Asp3957Tyr) c.11794G>T (p.Asp3932Tyr) c.11494G>T (p.Asp3832Tyr) c.8758G>T (p.Asp2920Tyr) c.7651G>T (p.Asp2551Tyr) c.11677G>T (p.Asp3893Tyr) c.7429G>T (p.Asp2477Tyr) c.10657G>T (p.Asp3553Tyr) | |
| 8 | g.99875470A>C | CA371795573 | COX6C,VPS13B | c.*1527A>C (n.*1527A>C) n.12503A>C c.*7555A>C (n.*7555A>C) c.11798A>C (p.Asp3933Ala) c.11873A>C (p.Asp3958Ala) n.1375A>C c.*142-378T>G (n.*142-378T>G) c.*142-2177T>G (n.*142-2177T>G) c.11870A>C (p.Asp3957Ala) c.11795A>C (p.Asp3932Ala) c.11495A>C (p.Asp3832Ala) c.8759A>C (p.Asp2920Ala) c.7652A>C (p.Asp2551Ala) c.11678A>C (p.Asp3893Ala) c.7430A>C (p.Asp2477Ala) c.10658A>C (p.Asp3553Ala) | |
| 8 | g.99875470A>G | CA371795571 | COX6C,VPS13B | c.*1527A>G (n.*1527A>G) n.12503A>G c.*7555A>G (n.*7555A>G) c.11798A>G (p.Asp3933Gly) c.11873A>G (p.Asp3958Gly) n.1375A>G c.*142-378T>C (n.*142-378T>C) c.*142-2177T>C (n.*142-2177T>C) c.11870A>G (p.Asp3957Gly) c.11795A>G (p.Asp3932Gly) c.11495A>G (p.Asp3832Gly) c.8759A>G (p.Asp2920Gly) c.7652A>G (p.Asp2551Gly) c.11678A>G (p.Asp3893Gly) c.7430A>G (p.Asp2477Gly) c.10658A>G (p.Asp3553Gly) | |
| 8 | g.99875470A>T | CA371795572 | COX6C,VPS13B | c.*1527A>T (n.*1527A>T) n.12503A>T c.*7555A>T (n.*7555A>T) c.11798A>T (p.Asp3933Val) c.11873A>T (p.Asp3958Val) n.1375A>T c.*142-378T>A (n.*142-378T>A) c.*142-2177T>A (n.*142-2177T>A) c.11870A>T (p.Asp3957Val) c.11795A>T (p.Asp3932Val) c.11495A>T (p.Asp3832Val) c.8759A>T (p.Asp2920Val) c.7652A>T (p.Asp2551Val) c.11678A>T (p.Asp3893Val) c.7430A>T (p.Asp2477Val) c.10658A>T (p.Asp3553Val) | |
| 8 | g.99875471C>A | CA371795574 | COX6C,VPS13B | c.*1528C>A (n.*1528C>A) n.12504C>A c.*7556C>A (n.*7556C>A) c.11799C>A (p.Asp3933Glu) c.11874C>A (p.Asp3958Glu) n.1376C>A c.*142-379G>T (n.*142-379G>T) c.*142-2178G>T (n.*142-2178G>T) c.11871C>A (p.Asp3957Glu) c.11796C>A (p.Asp3932Glu) c.11496C>A (p.Asp3832Glu) c.8760C>A (p.Asp2920Glu) c.7653C>A (p.Asp2551Glu) c.11679C>A (p.Asp3893Glu) c.7431C>A (p.Asp2477Glu) c.10659C>A (p.Asp3553Glu) | |
| 8 | g.99875471C>G | CA371795575 | COX6C,VPS13B | c.*1528C>G (n.*1528C>G) n.12504C>G c.*7556C>G (n.*7556C>G) c.11799C>G (p.Asp3933Glu) c.11874C>G (p.Asp3958Glu) n.1376C>G c.*142-379G>C (n.*142-379G>C) c.*142-2178G>C (n.*142-2178G>C) c.11871C>G (p.Asp3957Glu) c.11796C>G (p.Asp3932Glu) c.11496C>G (p.Asp3832Glu) c.8760C>G (p.Asp2920Glu) c.7653C>G (p.Asp2551Glu) c.11679C>G (p.Asp3893Glu) c.7431C>G (p.Asp2477Glu) c.10659C>G (p.Asp3553Glu) | |
| 8 | g.99875471C>T | CA462458582 | COX6C,VPS13B | c.*1528C>T (n.*1528C>T) n.12504C>T c.*7556C>T (n.*7556C>T) c.11799C>T (p.Asp3933=) c.11874C>T (p.Asp3958=) n.1376C>T c.*142-379G>A (n.*142-379G>A) c.*142-2178G>A (n.*142-2178G>A) c.11871C>T (p.Asp3957=) c.11796C>T (p.Asp3932=) c.11496C>T (p.Asp3832=) c.8760C>T (p.Asp2920=) c.7653C>T (p.Asp2551=) c.11679C>T (p.Asp3893=) c.7431C>T (p.Asp2477=) c.10659C>T (p.Asp3553=) | |
| 8 | g.99875472T>A | CA371795576 | COX6C,VPS13B | c.*1529T>A (n.*1529T>A) n.12505T>A c.*7557T>A (n.*7557T>A) c.11800T>A (p.Tyr3934Asn) c.11875T>A (p.Tyr3959Asn) n.1377T>A c.*142-380A>T (n.*142-380A>T) c.*142-2179A>T (n.*142-2179A>T) c.11872T>A (p.Tyr3958Asn) c.11797T>A (p.Tyr3933Asn) c.11497T>A (p.Tyr3833Asn) c.8761T>A (p.Tyr2921Asn) c.7654T>A (p.Tyr2552Asn) c.11680T>A (p.Tyr3894Asn) c.7432T>A (p.Tyr2478Asn) c.10660T>A (p.Tyr3554Asn) | |
| 8 | g.99875472T>C | CA371795577 | COX6C,VPS13B | c.*1529T>C (n.*1529T>C) n.12505T>C c.*7557T>C (n.*7557T>C) c.11800T>C (p.Tyr3934His) c.11875T>C (p.Tyr3959His) n.1377T>C c.*142-380A>G (n.*142-380A>G) c.*142-2179A>G (n.*142-2179A>G) c.11872T>C (p.Tyr3958His) c.11797T>C (p.Tyr3933His) c.11497T>C (p.Tyr3833His) c.8761T>C (p.Tyr2921His) c.7654T>C (p.Tyr2552His) c.11680T>C (p.Tyr3894His) c.7432T>C (p.Tyr2478His) c.10660T>C (p.Tyr3554His) | |
| 8 | g.99875472T>G | CA371795578 | COX6C,VPS13B | c.*1529T>G (n.*1529T>G) n.12505T>G c.*7557T>G (n.*7557T>G) c.11800T>G (p.Tyr3934Asp) c.11875T>G (p.Tyr3959Asp) n.1377T>G c.*142-380A>C (n.*142-380A>C) c.*142-2179A>C (n.*142-2179A>C) c.11872T>G (p.Tyr3958Asp) c.11797T>G (p.Tyr3933Asp) c.11497T>G (p.Tyr3833Asp) c.8761T>G (p.Tyr2921Asp) c.7654T>G (p.Tyr2552Asp) c.11680T>G (p.Tyr3894Asp) c.7432T>G (p.Tyr2478Asp) c.10660T>G (p.Tyr3554Asp) | |
| 8 | g.99875472_99875473dup | CA2688072340 | COX6C,VPS13B | c.*1529_*1530dup (n.*1529_*1530dup) n.12505_12506dup c.*7557_*7558dup (n.*7557_*7558dup) c.11800_11801dup (p.Ile3935ThrfsTer?) c.11875_11876dup (p.Ile3960ThrfsTer?) n.1377_1378dup c.*142-381_*142-380dup (n.*142-381_*142-380dup) c.*142-2180_*142-2179dup (n.*142-2180_*142-2179dup) c.11872_11873dup (p.Ile3959ThrfsTer?) c.11797_11798dup (p.Ile3934ThrfsTer?) c.11497_11498dup (p.Ile3834ThrfsTer?) c.8761_8762dup (p.Ile2922ThrfsTer?) c.7654_7655dup (p.Ile2553ThrfsTer?) c.11680_11681dup (p.Ile3895ThrfsTer?) c.7432_7433dup (p.Ile2479ThrfsTer?) c.10660_10661dup (p.Ile3555ThrfsTer?) | gnomAD v4 |
| 8 | g.99875473_99875476dup | CA2688072336 | COX6C,VPS13B | c.*1530_*1533dup (n.*1530_*1533dup) n.12506_12509dup c.*7558_*7561dup (n.*7558_*7561dup) c.11801_11804dup (p.Thr3936HisfsTer?) c.11876_11879dup (p.Thr3961HisfsTer?) n.1378_1381dup c.*142-383_*142-380dup (n.*142-383_*142-380dup) c.*142-2182_*142-2179dup (n.*142-2182_*142-2179dup) c.11873_11876dup (p.Thr3960HisfsTer?) c.11798_11801dup (p.Thr3935HisfsTer?) c.11498_11501dup (p.Thr3835HisfsTer?) c.8762_8765dup (p.Thr2923HisfsTer?) c.7655_7658dup (p.Thr2554HisfsTer?) c.11681_11684dup (p.Thr3896HisfsTer?) c.7433_7436dup (p.Thr2480HisfsTer?) c.10661_10664dup (p.Thr3556HisfsTer?) | gnomAD v4 |
| 8 | g.99875473A>C | CA371795579 | COX6C,VPS13B | c.*1530A>C (n.*1530A>C) n.12506A>C c.*7558A>C (n.*7558A>C) c.11801A>C (p.Tyr3934Ser) c.11876A>C (p.Tyr3959Ser) n.1378A>C c.*142-381T>G (n.*142-381T>G) c.*142-2180T>G (n.*142-2180T>G) c.11873A>C (p.Tyr3958Ser) c.11798A>C (p.Tyr3933Ser) c.11498A>C (p.Tyr3833Ser) c.8762A>C (p.Tyr2921Ser) c.7655A>C (p.Tyr2552Ser) c.11681A>C (p.Tyr3894Ser) c.7433A>C (p.Tyr2478Ser) c.10661A>C (p.Tyr3554Ser) | |
| 8 | g.99875473A>G | CA371795580 | COX6C,VPS13B | c.*1530A>G (n.*1530A>G) n.12506A>G c.*7558A>G (n.*7558A>G) c.11801A>G (p.Tyr3934Cys) c.11876A>G (p.Tyr3959Cys) n.1378A>G c.*142-381T>C (n.*142-381T>C) c.*142-2180T>C (n.*142-2180T>C) c.11873A>G (p.Tyr3958Cys) c.11798A>G (p.Tyr3933Cys) c.11498A>G (p.Tyr3833Cys) c.8762A>G (p.Tyr2921Cys) c.7655A>G (p.Tyr2552Cys) c.11681A>G (p.Tyr3894Cys) c.7433A>G (p.Tyr2478Cys) c.10661A>G (p.Tyr3554Cys) | |
| 8 | g.99875473A>T | CA371795581 | COX6C,VPS13B | c.*1530A>T (n.*1530A>T) n.12506A>T c.*7558A>T (n.*7558A>T) c.11801A>T (p.Tyr3934Phe) c.11876A>T (p.Tyr3959Phe) n.1378A>T c.*142-381T>A (n.*142-381T>A) c.*142-2180T>A (n.*142-2180T>A) c.11873A>T (p.Tyr3958Phe) c.11798A>T (p.Tyr3933Phe) c.11498A>T (p.Tyr3833Phe) c.8762A>T (p.Tyr2921Phe) c.7655A>T (p.Tyr2552Phe) c.11681A>T (p.Tyr3894Phe) c.7433A>T (p.Tyr2478Phe) c.10661A>T (p.Tyr3554Phe) | |
| 8 | g.99875473dup | CA1117131704 | COX6C,VPS13B | c.*1530dup (n.*1530dup) n.12506dup c.*7558dup (n.*7558dup) c.11801dup (p.Tyr3934Ter) c.11876dup (p.Tyr3959Ter) n.1378dup c.*142-381dup (n.*142-381dup) c.*142-2180dup (n.*142-2180dup) c.11873dup (p.Tyr3958Ter) c.11798dup (p.Tyr3933Ter) c.11498dup (p.Tyr3833Ter) c.8762dup (p.Tyr2921Ter) c.7655dup (p.Tyr2552Ter) c.11681dup (p.Tyr3894Ter) c.7433dup (p.Tyr2478Ter) c.10661dup (p.Tyr3554Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99875476_99875480dup | CA857613225 | COX6C,VPS13B | c.*1533_*1537dup (n.*1533_*1537dup) n.12509_12513dup c.*7561_*7565dup (n.*7561_*7565dup) c.11804_11808dup (p.Lys3937SerfsTer?) c.11879_11883dup (p.Lys3962SerfsTer?) n.1381_1385dup c.*142-385_*142-381dup (n.*142-385_*142-381dup) c.*142-2184_*142-2180dup (n.*142-2184_*142-2180dup) c.11876_11880dup (p.Lys3961SerfsTer?) c.11801_11805dup (p.Lys3936SerfsTer?) c.11501_11505dup (p.Lys3836SerfsTer?) c.8765_8769dup (p.Lys2924SerfsTer?) c.7658_7662dup (p.Lys2555SerfsTer?) c.11684_11688dup (p.Lys3897SerfsTer?) c.7436_7440dup (p.Lys2481SerfsTer?) c.10664_10668dup (p.Lys3557SerfsTer?) | ClinVar dbSNP |
| 8 | g.99875474C>A | CA371795582 | COX6C,VPS13B | c.*1531C>A (n.*1531C>A) n.12507C>A c.*7559C>A (n.*7559C>A) c.11802C>A (p.Tyr3934Ter) c.11877C>A (p.Tyr3959Ter) n.1379C>A c.*142-382G>T (n.*142-382G>T) c.*142-2181G>T (n.*142-2181G>T) c.11874C>A (p.Tyr3958Ter) c.11799C>A (p.Tyr3933Ter) c.11499C>A (p.Tyr3833Ter) c.8763C>A (p.Tyr2921Ter) c.7656C>A (p.Tyr2552Ter) c.11682C>A (p.Tyr3894Ter) c.7434C>A (p.Tyr2478Ter) c.10662C>A (p.Tyr3554Ter) | |
| 8 | g.99875474C>G | CA371795583 | COX6C,VPS13B | c.*1531C>G (n.*1531C>G) n.12507C>G c.*7559C>G (n.*7559C>G) c.11802C>G (p.Tyr3934Ter) c.11877C>G (p.Tyr3959Ter) n.1379C>G c.*142-382G>C (n.*142-382G>C) c.*142-2181G>C (n.*142-2181G>C) c.11874C>G (p.Tyr3958Ter) c.11799C>G (p.Tyr3933Ter) c.11499C>G (p.Tyr3833Ter) c.8763C>G (p.Tyr2921Ter) c.7656C>G (p.Tyr2552Ter) c.11682C>G (p.Tyr3894Ter) c.7434C>G (p.Tyr2478Ter) c.10662C>G (p.Tyr3554Ter) | |
| 8 | g.99875474C>T | CA462458592 | COX6C,VPS13B | c.*1531C>T (n.*1531C>T) n.12507C>T c.*7559C>T (n.*7559C>T) c.11802C>T (p.Tyr3934=) c.11877C>T (p.Tyr3959=) n.1379C>T c.*142-382G>A (n.*142-382G>A) c.*142-2181G>A (n.*142-2181G>A) c.11874C>T (p.Tyr3958=) c.11799C>T (p.Tyr3933=) c.11499C>T (p.Tyr3833=) c.8763C>T (p.Tyr2921=) c.7656C>T (p.Tyr2552=) c.11682C>T (p.Tyr3894=) c.7434C>T (p.Tyr2478=) c.10662C>T (p.Tyr3554=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99875476_99875478dup | CA2579216518 | COX6C,VPS13B | c.*1533_*1535dup (n.*1533_*1535dup) n.12509_12511dup c.*7561_*7563dup (n.*7561_*7563dup) c.11804_11806dup (p.Ile3935_Thr3936insIle) c.11879_11881dup (p.Ile3960_Thr3961insIle) n.1381_1383dup c.*142-384_*142-382dup (n.*142-384_*142-382dup) c.*142-2183_*142-2181dup (n.*142-2183_*142-2181dup) c.11876_11878dup (p.Ile3959_Thr3960insIle) c.11801_11803dup (p.Ile3934_Thr3935insIle) c.11501_11503dup (p.Ile3834_Thr3835insIle) c.8765_8767dup (p.Ile2922_Thr2923insIle) c.7658_7660dup (p.Ile2553_Thr2554insIle) c.11684_11686dup (p.Ile3895_Thr3896insIle) c.7436_7438dup (p.Ile2479_Thr2480insIle) c.10664_10666dup (p.Ile3555_Thr3556insIle) | |
| 8 | g.99875474_99875475insT | CA2688072350 | COX6C,VPS13B | c.*1531_*1532insT (n.*1531_*1532insT) n.12507_12508insT c.*7559_*7560insT (n.*7559_*7560insT) c.11802_11803insT (p.Ile3935TyrfsTer?) c.11877_11878insT (p.Ile3960TyrfsTer?) n.1379_1380insT c.*142-383_*142-382insA (n.*142-383_*142-382insA) c.*142-2182_*142-2181insA (n.*142-2182_*142-2181insA) c.11874_11875insT (p.Ile3959TyrfsTer?) c.11799_11800insT (p.Ile3934TyrfsTer?) c.11499_11500insT (p.Ile3834TyrfsTer?) c.8763_8764insT (p.Ile2922TyrfsTer?) c.7656_7657insT (p.Ile2553TyrfsTer?) c.11682_11683insT (p.Ile3895TyrfsTer?) c.7434_7435insT (p.Ile2479TyrfsTer?) c.10662_10663insT (p.Ile3555TyrfsTer?) | gnomAD v4 |