| 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.99875450_99875452dup | CA2579216517 | COX6C,VPS13B | c.*1507_*1509dup (n.*1507_*1509dup) n.12483_12485dup c.*7535_*7537dup (n.*7535_*7537dup) c.11778_11780dup (p.Gln3927_Tyr3928insGln) c.11853_11855dup (p.Gln3952_Tyr3953insGln) n.1355_1357dup c.*142-358_*142-356dup (n.*142-358_*142-356dup) c.*142-2157_*142-2155dup (n.*142-2157_*142-2155dup) c.11850_11852dup (p.Gln3951_Tyr3952insGln) c.11775_11777dup (p.Gln3926_Tyr3927insGln) c.11475_11477dup (p.Gln3826_Tyr3827insGln) c.8739_8741dup (p.Gln2914_Tyr2915insGln) c.7632_7634dup (p.Gln2545_Tyr2546insGln) c.11658_11660dup (p.Gln3887_Tyr3888insGln) c.7410_7412dup (p.Gln2471_Tyr2472insGln) c.10638_10640dup (p.Gln3547_Tyr3548insGln) | |
| 8 | g.99875452A>C | CA371795533 | COX6C,VPS13B | c.*1509A>C (n.*1509A>C) n.12485A>C c.*7537A>C (n.*7537A>C) c.11780A>C (p.Gln3927Pro) c.11855A>C (p.Gln3952Pro) n.1357A>C c.*142-360T>G (n.*142-360T>G) c.*142-2159T>G (n.*142-2159T>G) c.11852A>C (p.Gln3951Pro) c.11777A>C (p.Gln3926Pro) c.11477A>C (p.Gln3826Pro) c.8741A>C (p.Gln2914Pro) c.7634A>C (p.Gln2545Pro) c.11660A>C (p.Gln3887Pro) c.7412A>C (p.Gln2471Pro) c.10640A>C (p.Gln3547Pro) | |
| 8 | g.99875452A>G | CA371795534 | COX6C,VPS13B | c.*1509A>G (n.*1509A>G) n.12485A>G c.*7537A>G (n.*7537A>G) c.11780A>G (p.Gln3927Arg) c.11855A>G (p.Gln3952Arg) n.1357A>G c.*142-360T>C (n.*142-360T>C) c.*142-2159T>C (n.*142-2159T>C) c.11852A>G (p.Gln3951Arg) c.11777A>G (p.Gln3926Arg) c.11477A>G (p.Gln3826Arg) c.8741A>G (p.Gln2914Arg) c.7634A>G (p.Gln2545Arg) c.11660A>G (p.Gln3887Arg) c.7412A>G (p.Gln2471Arg) c.10640A>G (p.Gln3547Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99875452A>T | CA371795535 | COX6C,VPS13B | c.*1509A>T (n.*1509A>T) n.12485A>T c.*7537A>T (n.*7537A>T) c.11780A>T (p.Gln3927Leu) c.11855A>T (p.Gln3952Leu) n.1357A>T c.*142-360T>A (n.*142-360T>A) c.*142-2159T>A (n.*142-2159T>A) c.11852A>T (p.Gln3951Leu) c.11777A>T (p.Gln3926Leu) c.11477A>T (p.Gln3826Leu) c.8741A>T (p.Gln2914Leu) c.7634A>T (p.Gln2545Leu) c.11660A>T (p.Gln3887Leu) c.7412A>T (p.Gln2471Leu) c.10640A>T (p.Gln3547Leu) | |
| 8 | g.99875453del | CA4825345 | COX6C,VPS13B | c.*1510del (n.*1510del) n.12486del c.*7538del (n.*7538del) c.11781del (p.Gln3927HisfsTer?) c.11856del (p.Gln3952HisfsTer?) n.1358del c.*142-361del (n.*142-361del) c.*142-2160del (n.*142-2160del) c.11853del (p.Gln3951HisfsTer?) c.11778del (p.Gln3926HisfsTer?) c.11478del (p.Gln3826HisfsTer?) c.8742del (p.Gln2914HisfsTer?) c.7635del (p.Gln2545HisfsTer?) c.11661del (p.Gln3887HisfsTer?) c.7413del (p.Gln2471HisfsTer?) c.10641del (p.Gln3547HisfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99875453G>A | CA462458542 | COX6C,VPS13B | c.*1510G>A (n.*1510G>A) n.12486G>A c.*7538G>A (n.*7538G>A) c.11781G>A (p.Gln3927=) c.11856G>A (p.Gln3952=) n.1358G>A c.*142-361C>T (n.*142-361C>T) c.*142-2160C>T (n.*142-2160C>T) c.11853G>A (p.Gln3951=) c.11778G>A (p.Gln3926=) c.11478G>A (p.Gln3826=) c.8742G>A (p.Gln2914=) c.7635G>A (p.Gln2545=) c.11661G>A (p.Gln3887=) c.7413G>A (p.Gln2471=) c.10641G>A (p.Gln3547=) | dbSNP |
| 8 | g.99875453G>C | CA371795536 | COX6C,VPS13B | c.*1510G>C (n.*1510G>C) n.12486G>C c.*7538G>C (n.*7538G>C) c.11781G>C (p.Gln3927His) c.11856G>C (p.Gln3952His) n.1358G>C c.*142-361C>G (n.*142-361C>G) c.*142-2160C>G (n.*142-2160C>G) c.11853G>C (p.Gln3951His) c.11778G>C (p.Gln3926His) c.11478G>C (p.Gln3826His) c.8742G>C (p.Gln2914His) c.7635G>C (p.Gln2545His) c.11661G>C (p.Gln3887His) c.7413G>C (p.Gln2471His) c.10641G>C (p.Gln3547His) | ClinVar dbSNP |
| 8 | g.99875453G>T | CA371795537 | COX6C,VPS13B | c.*1510G>T (n.*1510G>T) n.12486G>T c.*7538G>T (n.*7538G>T) c.11781G>T (p.Gln3927His) c.11856G>T (p.Gln3952His) n.1358G>T c.*142-361C>A (n.*142-361C>A) c.*142-2160C>A (n.*142-2160C>A) c.11853G>T (p.Gln3951His) c.11778G>T (p.Gln3926His) c.11478G>T (p.Gln3826His) c.8742G>T (p.Gln2914His) c.7635G>T (p.Gln2545His) c.11661G>T (p.Gln3887His) c.7413G>T (p.Gln2471His) c.10641G>T (p.Gln3547His) | |
| 8 | g.99875454T>A | CA371795538 | COX6C,VPS13B | c.*1511T>A (n.*1511T>A) n.12487T>A c.*7539T>A (n.*7539T>A) c.11782T>A (p.Tyr3928Asn) c.11857T>A (p.Tyr3953Asn) n.1359T>A c.*142-362A>T (n.*142-362A>T) c.*142-2161A>T (n.*142-2161A>T) c.11854T>A (p.Tyr3952Asn) c.11779T>A (p.Tyr3927Asn) c.11479T>A (p.Tyr3827Asn) c.8743T>A (p.Tyr2915Asn) c.7636T>A (p.Tyr2546Asn) c.11662T>A (p.Tyr3888Asn) c.7414T>A (p.Tyr2472Asn) c.10642T>A (p.Tyr3548Asn) | |
| 8 | g.99875454T>C | CA371795539 | COX6C,VPS13B | c.*1511T>C (n.*1511T>C) n.12487T>C c.*7539T>C (n.*7539T>C) c.11782T>C (p.Tyr3928His) c.11857T>C (p.Tyr3953His) n.1359T>C c.*142-362A>G (n.*142-362A>G) c.*142-2161A>G (n.*142-2161A>G) c.11854T>C (p.Tyr3952His) c.11779T>C (p.Tyr3927His) c.11479T>C (p.Tyr3827His) c.8743T>C (p.Tyr2915His) c.7636T>C (p.Tyr2546His) c.11662T>C (p.Tyr3888His) c.7414T>C (p.Tyr2472His) c.10642T>C (p.Tyr3548His) | |
| 8 | g.99875454T>G | CA371795540 | COX6C,VPS13B | c.*1511T>G (n.*1511T>G) n.12487T>G c.*7539T>G (n.*7539T>G) c.11782T>G (p.Tyr3928Asp) c.11857T>G (p.Tyr3953Asp) n.1359T>G c.*142-362A>C (n.*142-362A>C) c.*142-2161A>C (n.*142-2161A>C) c.11854T>G (p.Tyr3952Asp) c.11779T>G (p.Tyr3927Asp) c.11479T>G (p.Tyr3827Asp) c.8743T>G (p.Tyr2915Asp) c.7636T>G (p.Tyr2546Asp) c.11662T>G (p.Tyr3888Asp) c.7414T>G (p.Tyr2472Asp) c.10642T>G (p.Tyr3548Asp) | |
| 8 | g.99875454_99875457del | CA913128155 | COX6C,VPS13B | c.*1511_*1514del (n.*1511_*1514del) n.12487_12490del c.*7539_*7542del (n.*7539_*7542del) c.11782_11785del (p.Tyr3928ThrfsTer?) c.11857_11860del (p.Tyr3953ThrfsTer?) n.1359_1362del c.*142-365_*142-362del (n.*142-365_*142-362del) c.*142-2164_*142-2161del (n.*142-2164_*142-2161del) c.11854_11857del (p.Tyr3952ThrfsTer?) c.11779_11782del (p.Tyr3927ThrfsTer?) c.11479_11482del (p.Tyr3827ThrfsTer?) c.8743_8746del (p.Tyr2915ThrfsTer?) c.7636_7639del (p.Tyr2546ThrfsTer?) c.11662_11665del (p.Tyr3888ThrfsTer?) c.7414_7417del (p.Tyr2472ThrfsTer?) c.10642_10645del (p.Tyr3548ThrfsTer?) | |
| 8 | g.99875455A>C | CA371795541 | COX6C,VPS13B | c.*1512A>C (n.*1512A>C) n.12488A>C c.*7540A>C (n.*7540A>C) c.11783A>C (p.Tyr3928Ser) c.11858A>C (p.Tyr3953Ser) n.1360A>C c.*142-363T>G (n.*142-363T>G) c.*142-2162T>G (n.*142-2162T>G) c.11855A>C (p.Tyr3952Ser) c.11780A>C (p.Tyr3927Ser) c.11480A>C (p.Tyr3827Ser) c.8744A>C (p.Tyr2915Ser) c.7637A>C (p.Tyr2546Ser) c.11663A>C (p.Tyr3888Ser) c.7415A>C (p.Tyr2472Ser) c.10643A>C (p.Tyr3548Ser) | |
| 8 | g.99875455A>G | CA371795542 | COX6C,VPS13B | c.*1512A>G (n.*1512A>G) n.12488A>G c.*7540A>G (n.*7540A>G) c.11783A>G (p.Tyr3928Cys) c.11858A>G (p.Tyr3953Cys) n.1360A>G c.*142-363T>C (n.*142-363T>C) c.*142-2162T>C (n.*142-2162T>C) c.11855A>G (p.Tyr3952Cys) c.11780A>G (p.Tyr3927Cys) c.11480A>G (p.Tyr3827Cys) c.8744A>G (p.Tyr2915Cys) c.7637A>G (p.Tyr2546Cys) c.11663A>G (p.Tyr3888Cys) c.7415A>G (p.Tyr2472Cys) c.10643A>G (p.Tyr3548Cys) | |
| 8 | g.99875455A>T | CA371795543 | COX6C,VPS13B | c.*1512A>T (n.*1512A>T) n.12488A>T c.*7540A>T (n.*7540A>T) c.11783A>T (p.Tyr3928Phe) c.11858A>T (p.Tyr3953Phe) n.1360A>T c.*142-363T>A (n.*142-363T>A) c.*142-2162T>A (n.*142-2162T>A) c.11855A>T (p.Tyr3952Phe) c.11780A>T (p.Tyr3927Phe) c.11480A>T (p.Tyr3827Phe) c.8744A>T (p.Tyr2915Phe) c.7637A>T (p.Tyr2546Phe) c.11663A>T (p.Tyr3888Phe) c.7415A>T (p.Tyr2472Phe) c.10643A>T (p.Tyr3548Phe) | |
| 8 | g.99875458_99875460dup | CA1117131697 | COX6C,VPS13B | c.*1515_*1517dup (n.*1515_*1517dup) n.12491_12493dup c.*7543_*7545dup (n.*7543_*7545dup) c.11786_11788dup (p.Asn3929_Arg3930insAsn) c.11861_11863dup (p.Asn3954_Arg3955insAsn) n.1363_1365dup c.*142-365_*142-363dup (n.*142-365_*142-363dup) c.*142-2164_*142-2162dup (n.*142-2164_*142-2162dup) c.11858_11860dup (p.Asn3953_Arg3954insAsn) c.11783_11785dup (p.Asn3928_Arg3929insAsn) c.11483_11485dup (p.Asn3828_Arg3829insAsn) c.8747_8749dup (p.Asn2916_Arg2917insAsn) c.7640_7642dup (p.Asn2547_Arg2548insAsn) c.11666_11668dup (p.Asn3889_Arg3890insAsn) c.7418_7420dup (p.Asn2473_Arg2474insAsn) c.10646_10648dup (p.Asn3549_Arg3550insAsn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99875458_99875460del | CA658821989 | COX6C,VPS13B | c.*1515_*1517del (n.*1515_*1517del) n.12491_12493del c.*7543_*7545del (n.*7543_*7545del) c.11786_11788del (p.Asn3929del) c.11861_11863del (p.Asn3954del) n.1363_1365del c.*142-365_*142-363del (n.*142-365_*142-363del) c.*142-2164_*142-2162del (n.*142-2164_*142-2162del) c.11858_11860del (p.Asn3953del) c.11783_11785del (p.Asn3928del) c.11483_11485del (p.Asn3828del) c.8747_8749del (p.Asn2916del) c.7640_7642del (p.Asn2547del) c.11666_11668del (p.Asn3889del) c.7418_7420del (p.Asn2473del) c.10646_10648del (p.Asn3549del) | dbSNP gnomAD v4 |
| 8 | g.99875456C>A | CA371795545 | COX6C,VPS13B | c.*1513C>A (n.*1513C>A) n.12489C>A c.*7541C>A (n.*7541C>A) c.11784C>A (p.Tyr3928Ter) c.11859C>A (p.Tyr3953Ter) n.1361C>A c.*142-364G>T (n.*142-364G>T) c.*142-2163G>T (n.*142-2163G>T) c.11856C>A (p.Tyr3952Ter) c.11781C>A (p.Tyr3927Ter) c.11481C>A (p.Tyr3827Ter) c.8745C>A (p.Tyr2915Ter) c.7638C>A (p.Tyr2546Ter) c.11664C>A (p.Tyr3888Ter) c.7416C>A (p.Tyr2472Ter) c.10644C>A (p.Tyr3548Ter) | |
| 8 | g.99875456C>G | CA371795544 | COX6C,VPS13B | c.*1513C>G (n.*1513C>G) n.12489C>G c.*7541C>G (n.*7541C>G) c.11784C>G (p.Tyr3928Ter) c.11859C>G (p.Tyr3953Ter) n.1361C>G c.*142-364G>C (n.*142-364G>C) c.*142-2163G>C (n.*142-2163G>C) c.11856C>G (p.Tyr3952Ter) c.11781C>G (p.Tyr3927Ter) c.11481C>G (p.Tyr3827Ter) c.8745C>G (p.Tyr2915Ter) c.7638C>G (p.Tyr2546Ter) c.11664C>G (p.Tyr3888Ter) c.7416C>G (p.Tyr2472Ter) c.10644C>G (p.Tyr3548Ter) | |
| 8 | g.99875456C>T | CA462458550 | COX6C,VPS13B | c.*1513C>T (n.*1513C>T) n.12489C>T c.*7541C>T (n.*7541C>T) c.11784C>T (p.Tyr3928=) c.11859C>T (p.Tyr3953=) n.1361C>T c.*142-364G>A (n.*142-364G>A) c.*142-2163G>A (n.*142-2163G>A) c.11856C>T (p.Tyr3952=) c.11781C>T (p.Tyr3927=) c.11481C>T (p.Tyr3827=) c.8745C>T (p.Tyr2915=) c.7638C>T (p.Tyr2546=) c.11664C>T (p.Tyr3888=) c.7416C>T (p.Tyr2472=) c.10644C>T (p.Tyr3548=) | gnomAD v4 |
| 8 | g.99875457A>C | CA371795546 | COX6C,VPS13B | c.*1514A>C (n.*1514A>C) n.12490A>C c.*7542A>C (n.*7542A>C) c.11785A>C (p.Asn3929His) c.11860A>C (p.Asn3954His) n.1362A>C c.*142-365T>G (n.*142-365T>G) c.*142-2164T>G (n.*142-2164T>G) c.11857A>C (p.Asn3953His) c.11782A>C (p.Asn3928His) c.11482A>C (p.Asn3828His) c.8746A>C (p.Asn2916His) c.7639A>C (p.Asn2547His) c.11665A>C (p.Asn3889His) c.7417A>C (p.Asn2473His) c.10645A>C (p.Asn3549His) | |
| 8 | g.99875457A>G | CA182335211 | COX6C,VPS13B | c.*1514A>G (n.*1514A>G) n.12490A>G c.*7542A>G (n.*7542A>G) c.11785A>G (p.Asn3929Asp) c.11860A>G (p.Asn3954Asp) n.1362A>G c.*142-365T>C (n.*142-365T>C) c.*142-2164T>C (n.*142-2164T>C) c.11857A>G (p.Asn3953Asp) c.11782A>G (p.Asn3928Asp) c.11482A>G (p.Asn3828Asp) c.8746A>G (p.Asn2916Asp) c.7639A>G (p.Asn2547Asp) c.11665A>G (p.Asn3889Asp) c.7417A>G (p.Asn2473Asp) c.10645A>G (p.Asn3549Asp) | dbSNP |
| 8 | g.99875457A>T | CA371795547 | COX6C,VPS13B | c.*1514A>T (n.*1514A>T) n.12490A>T c.*7542A>T (n.*7542A>T) c.11785A>T (p.Asn3929Tyr) c.11860A>T (p.Asn3954Tyr) n.1362A>T c.*142-365T>A (n.*142-365T>A) c.*142-2164T>A (n.*142-2164T>A) c.11857A>T (p.Asn3953Tyr) c.11782A>T (p.Asn3928Tyr) c.11482A>T (p.Asn3828Tyr) c.8746A>T (p.Asn2916Tyr) c.7639A>T (p.Asn2547Tyr) c.11665A>T (p.Asn3889Tyr) c.7417A>T (p.Asn2473Tyr) c.10645A>T (p.Asn3549Tyr) | |
| 8 | g.99875457_99875458dup | CA2695209944 | COX6C,VPS13B | c.*1514_*1515dup (n.*1514_*1515dup) n.12490_12491dup c.*7542_*7543dup (n.*7542_*7543dup) c.11785_11786dup (p.Asn3929LysfsTer?) c.11860_11861dup (p.Asn3954LysfsTer?) n.1362_1363dup c.*142-366_*142-365dup (n.*142-366_*142-365dup) c.*142-2165_*142-2164dup (n.*142-2165_*142-2164dup) c.11857_11858dup (p.Asn3953LysfsTer?) c.11782_11783dup (p.Asn3928LysfsTer?) c.11482_11483dup (p.Asn3828LysfsTer?) c.8746_8747dup (p.Asn2916LysfsTer?) c.7639_7640dup (p.Asn2547LysfsTer?) c.11665_11666dup (p.Asn3889LysfsTer?) c.7417_7418dup (p.Asn2473LysfsTer?) c.10645_10646dup (p.Asn3549LysfsTer?) | |
| 8 | g.99875458A>C | CA371795548 | COX6C,VPS13B | c.*1515A>C (n.*1515A>C) n.12491A>C c.*7543A>C (n.*7543A>C) c.11786A>C (p.Asn3929Thr) c.11861A>C (p.Asn3954Thr) n.1363A>C c.*142-366T>G (n.*142-366T>G) c.*142-2165T>G (n.*142-2165T>G) c.11858A>C (p.Asn3953Thr) c.11783A>C (p.Asn3928Thr) c.11483A>C (p.Asn3828Thr) c.8747A>C (p.Asn2916Thr) c.7640A>C (p.Asn2547Thr) c.11666A>C (p.Asn3889Thr) c.7418A>C (p.Asn2473Thr) c.10646A>C (p.Asn3549Thr) | dbSNP |
| 8 | g.99875458A>G | CA371795549 | COX6C,VPS13B | c.*1515A>G (n.*1515A>G) n.12491A>G c.*7543A>G (n.*7543A>G) c.11786A>G (p.Asn3929Ser) c.11861A>G (p.Asn3954Ser) n.1363A>G c.*142-366T>C (n.*142-366T>C) c.*142-2165T>C (n.*142-2165T>C) c.11858A>G (p.Asn3953Ser) c.11783A>G (p.Asn3928Ser) c.11483A>G (p.Asn3828Ser) c.8747A>G (p.Asn2916Ser) c.7640A>G (p.Asn2547Ser) c.11666A>G (p.Asn3889Ser) c.7418A>G (p.Asn2473Ser) c.10646A>G (p.Asn3549Ser) | |
| 8 | g.99875458A>T | CA371795550 | COX6C,VPS13B | c.*1515A>T (n.*1515A>T) n.12491A>T c.*7543A>T (n.*7543A>T) c.11786A>T (p.Asn3929Ile) c.11861A>T (p.Asn3954Ile) n.1363A>T c.*142-366T>A (n.*142-366T>A) c.*142-2165T>A (n.*142-2165T>A) c.11858A>T (p.Asn3953Ile) c.11783A>T (p.Asn3928Ile) c.11483A>T (p.Asn3828Ile) c.8747A>T (p.Asn2916Ile) c.7640A>T (p.Asn2547Ile) c.11666A>T (p.Asn3889Ile) c.7418A>T (p.Asn2473Ile) c.10646A>T (p.Asn3549Ile) | |
| 8 | g.99875459C>A | CA371795551 | COX6C,VPS13B | c.*1516C>A (n.*1516C>A) n.12492C>A c.*7544C>A (n.*7544C>A) c.11787C>A (p.Asn3929Lys) c.11862C>A (p.Asn3954Lys) n.1364C>A c.*142-367G>T (n.*142-367G>T) c.*142-2166G>T (n.*142-2166G>T) c.11859C>A (p.Asn3953Lys) c.11784C>A (p.Asn3928Lys) c.11484C>A (p.Asn3828Lys) c.8748C>A (p.Asn2916Lys) c.7641C>A (p.Asn2547Lys) c.11667C>A (p.Asn3889Lys) c.7419C>A (p.Asn2473Lys) c.10647C>A (p.Asn3549Lys) | |
| 8 | g.99875459C>G | CA4825347 | COX6C,VPS13B | c.*1516C>G (n.*1516C>G) n.12492C>G c.*7544C>G (n.*7544C>G) c.11787C>G (p.Asn3929Lys) c.11862C>G (p.Asn3954Lys) n.1364C>G c.*142-367G>C (n.*142-367G>C) c.*142-2166G>C (n.*142-2166G>C) c.11859C>G (p.Asn3953Lys) c.11784C>G (p.Asn3928Lys) c.11484C>G (p.Asn3828Lys) c.8748C>G (p.Asn2916Lys) c.7641C>G (p.Asn2547Lys) c.11667C>G (p.Asn3889Lys) c.7419C>G (p.Asn2473Lys) c.10647C>G (p.Asn3549Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99875459C>T | CA4825346 | COX6C,VPS13B | c.*1516C>T (n.*1516C>T) n.12492C>T c.*7544C>T (n.*7544C>T) c.11787C>T (p.Asn3929=) c.11862C>T (p.Asn3954=) n.1364C>T c.*142-367G>A (n.*142-367G>A) c.*142-2166G>A (n.*142-2166G>A) c.11859C>T (p.Asn3953=) c.11784C>T (p.Asn3928=) c.11484C>T (p.Asn3828=) c.8748C>T (p.Asn2916=) c.7641C>T (p.Asn2547=) c.11667C>T (p.Asn3889=) c.7419C>T (p.Asn2473=) c.10647C>T (p.Asn3549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99875460A>C | CA462458557 | COX6C,VPS13B | c.*1517A>C (n.*1517A>C) n.12493A>C c.*7545A>C (n.*7545A>C) c.11788A>C (p.Arg3930=) c.11863A>C (p.Arg3955=) n.1365A>C c.*142-368T>G (n.*142-368T>G) c.*142-2167T>G (n.*142-2167T>G) c.11860A>C (p.Arg3954=) c.11785A>C (p.Arg3929=) c.11485A>C (p.Arg3829=) c.8749A>C (p.Arg2917=) c.7642A>C (p.Arg2548=) c.11668A>C (p.Arg3890=) c.7420A>C (p.Arg2474=) c.10648A>C (p.Arg3550=) | |
| 8 | g.99875460A>G | CA371795552 | COX6C,VPS13B | c.*1517A>G (n.*1517A>G) n.12493A>G c.*7545A>G (n.*7545A>G) c.11788A>G (p.Arg3930Gly) c.11863A>G (p.Arg3955Gly) n.1365A>G c.*142-368T>C (n.*142-368T>C) c.*142-2167T>C (n.*142-2167T>C) c.11860A>G (p.Arg3954Gly) c.11785A>G (p.Arg3929Gly) c.11485A>G (p.Arg3829Gly) c.8749A>G (p.Arg2917Gly) c.7642A>G (p.Arg2548Gly) c.11668A>G (p.Arg3890Gly) c.7420A>G (p.Arg2474Gly) c.10648A>G (p.Arg3550Gly) | |
| 8 | g.99875460A>T | CA371795553 | COX6C,VPS13B | c.*1517A>T (n.*1517A>T) n.12493A>T c.*7545A>T (n.*7545A>T) c.11788A>T (p.Arg3930Ter) c.11863A>T (p.Arg3955Ter) n.1365A>T c.*142-368T>A (n.*142-368T>A) c.*142-2167T>A (n.*142-2167T>A) c.11860A>T (p.Arg3954Ter) c.11785A>T (p.Arg3929Ter) c.11485A>T (p.Arg3829Ter) c.8749A>T (p.Arg2917Ter) c.7642A>T (p.Arg2548Ter) c.11668A>T (p.Arg3890Ter) c.7420A>T (p.Arg2474Ter) c.10648A>T (p.Arg3550Ter) | |
| 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=) | 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 |