Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91313158_91313196del | CA7309592 | CCDC88C | c.2630_2668del (p.Ala877_Leu889del) c.2522_2560del (p.Ala841_Leu853del) n.2758_2796del n.2756_2794del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313192T>A | CA390629652 | CCDC88C | c.2624A>T (p.Glu875Val) c.2516A>T (p.Glu839Val) n.2752A>T n.2750A>T | |
14 | g.91313192T>C | CA390629653 | CCDC88C | c.2624A>G (p.Glu875Gly) c.2516A>G (p.Glu839Gly) n.2752A>G n.2750A>G | |
14 | g.91313192T>G | CA390629654 | CCDC88C | c.2624A>C (p.Glu875Ala) c.2516A>C (p.Glu839Ala) n.2752A>C n.2750A>C | |
14 | g.91313193C>A | CA390629655 | CCDC88C | c.2623G>T (p.Glu875Ter) c.2515G>T (p.Glu839Ter) n.2751G>T n.2749G>T | |
14 | g.91313193C>G | CA390629657 | CCDC88C | c.2623G>C (p.Glu875Gln) c.2515G>C (p.Glu839Gln) n.2751G>C n.2749G>C | gnomAD v4 |
14 | g.91313193C>T | CA390629656 | CCDC88C | c.2623G>A (p.Glu875Lys) c.2515G>A (p.Glu839Lys) n.2751G>A n.2749G>A | |
14 | g.91313194C>A | CA390629658 | CCDC88C | c.2622G>T (p.Lys874Asn) c.2514G>T (p.Lys838Asn) n.2750G>T n.2748G>T | COSMIC COSMIC |
14 | g.91313194C>G | CA390629659 | CCDC88C | c.2622G>C (p.Lys874Asn) c.2514G>C (p.Lys838Asn) n.2750G>C n.2748G>C | |
14 | g.91313194C>T | CA487550438 | CCDC88C | c.2622G>A (p.Lys874=) c.2514G>A (p.Lys838=) n.2750G>A n.2748G>A | |
14 | g.91313195T>A | CA390629660 | CCDC88C | c.2621A>T (p.Lys874Met) c.2513A>T (p.Lys838Met) n.2749A>T n.2747A>T | |
14 | g.91313195T>C | CA390629662 | CCDC88C | c.2621A>G (p.Lys874Arg) c.2513A>G (p.Lys838Arg) n.2749A>G n.2747A>G | |
14 | g.91313195T>G | CA390629661 | CCDC88C | c.2621A>C (p.Lys874Thr) c.2513A>C (p.Lys838Thr) n.2749A>C n.2747A>C | |
14 | g.91313196T>A | CA390629663 | CCDC88C | c.2620A>T (p.Lys874Ter) c.2512A>T (p.Lys838Ter) n.2748A>T n.2746A>T | |
14 | g.91313196T>C | CA390629665 | CCDC88C | c.2620A>G (p.Lys874Glu) c.2512A>G (p.Lys838Glu) n.2748A>G n.2746A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313196T>G | CA390629664 | CCDC88C | c.2620A>C (p.Lys874Gln) c.2512A>C (p.Lys838Gln) n.2748A>C n.2746A>C | |
14 | g.91313196T= | CA2154878431 | CCDC88C | c.2620A= (p.Lys874=) c.2512A= (p.Lys838=) n.2748A= n.2746A= | |
14 | g.91313197G>A | CA487550440 | CCDC88C | c.2619C>T (p.Asp873=) c.2511C>T (p.Asp837=) n.2747C>T n.2745C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313197G>C | CA390629666 | CCDC88C | c.2619C>G (p.Asp873Glu) c.2511C>G (p.Asp837Glu) n.2747C>G n.2745C>G | |
14 | g.91313197G= | CA2154878435 | CCDC88C | c.2619C= (p.Asp873=) c.2511C= (p.Asp837=) n.2747C= n.2745C= | |
14 | g.91313197G>T | CA390629667 | CCDC88C | c.2619C>A (p.Asp873Glu) c.2511C>A (p.Asp837Glu) n.2747C>A n.2745C>A | |
14 | g.91313198T>A | CA390629668 | CCDC88C | c.2618A>T (p.Asp873Val) c.2510A>T (p.Asp837Val) n.2746A>T n.2744A>T | |
14 | g.91313198T>C | CA390629669 | CCDC88C | c.2618A>G (p.Asp873Gly) c.2510A>G (p.Asp837Gly) n.2746A>G n.2744A>G | dbSNP |
14 | g.91313198T>G | CA390629670 | CCDC88C | c.2618A>C (p.Asp873Ala) c.2510A>C (p.Asp837Ala) n.2746A>C n.2744A>C | |
14 | g.91313198T= | CA2154878438 | CCDC88C | c.2618A= (p.Asp873=) c.2510A= (p.Asp837=) n.2746A= n.2744A= | |
14 | g.91313199C>A | CA390629673 | CCDC88C | c.2617G>T (p.Asp873Tyr) c.2509G>T (p.Asp837Tyr) n.2745G>T n.2743G>T | |
14 | g.91313199C>G | CA390629672 | CCDC88C | c.2617G>C (p.Asp873His) c.2509G>C (p.Asp837His) n.2745G>C n.2743G>C | |
14 | g.91313199C>T | CA390629671 | CCDC88C | c.2617G>A (p.Asp873Asn) c.2509G>A (p.Asp837Asn) n.2745G>A n.2743G>A | COSMIC COSMIC |
14 | g.91313200C>A | CA487550446 | CCDC88C | c.2616G>T (p.Leu872=) c.2508G>T (p.Leu836=) n.2744G>T n.2742G>T | |
14 | g.91313200C>G | CA487550445 | CCDC88C | c.2616G>C (p.Leu872=) c.2508G>C (p.Leu836=) n.2744G>C n.2742G>C | |
14 | g.91313200C>T | CA487550444 | CCDC88C | c.2616G>A (p.Leu872=) c.2508G>A (p.Leu836=) n.2744G>A n.2742G>A | |
14 | g.91313201A= | CA2154878441 | CCDC88C | c.2615T= (p.Leu872=) c.2507T= (p.Leu836=) n.2743T= n.2741T= | |
14 | g.91313201A>C | CA390629674 | CCDC88C | c.2615T>G (p.Leu872Arg) c.2507T>G (p.Leu836Arg) n.2743T>G n.2741T>G | |
14 | g.91313201A>G | CA7309602 | CCDC88C | c.2615T>C (p.Leu872Pro) c.2507T>C (p.Leu836Pro) n.2743T>C n.2741T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313201A>T | CA390629675 | CCDC88C | c.2615T>A (p.Leu872Gln) c.2507T>A (p.Leu836Gln) n.2743T>A n.2741T>A | |
14 | g.91313202G>A | CA487550447 | CCDC88C | c.2614C>T (p.Leu872=) c.2506C>T (p.Leu836=) n.2742C>T n.2740C>T | |
14 | g.91313202G>C | CA390629676 | CCDC88C | c.2614C>G (p.Leu872Val) c.2506C>G (p.Leu836Val) n.2742C>G n.2740C>G | |
14 | g.91313202G>T | CA390629677 | CCDC88C | c.2614C>A (p.Leu872Met) c.2506C>A (p.Leu836Met) n.2742C>A n.2740C>A | |
14 | g.91313203C>A | CA487550448 | CCDC88C | c.2613G>T (p.Ala871=) c.2505G>T (p.Ala835=) n.2741G>T n.2739G>T | gnomAD v4 |
14 | g.91313203C= | CA2154878447 | CCDC88C | c.2613G= (p.Ala871=) c.2505G= (p.Ala835=) n.2741G= n.2739G= | |
14 | g.91313203C>G | CA487550449 | CCDC88C | c.2613G>C (p.Ala871=) c.2505G>C (p.Ala835=) n.2741G>C n.2739G>C | |
14 | g.91313203C>T | CA7309603 | CCDC88C | c.2613G>A (p.Ala871=) c.2505G>A (p.Ala835=) n.2741G>A n.2739G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313204G>A | CA7309604 | CCDC88C | c.2612C>T (p.Ala871Val) c.2504C>T (p.Ala835Val) n.2740C>T n.2738C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313204G>C | CA390629679 | CCDC88C | c.2612C>G (p.Ala871Gly) c.2504C>G (p.Ala835Gly) n.2740C>G n.2738C>G | |
14 | g.91313204G= | CA2154878452 | CCDC88C | c.2612C= (p.Ala871=) c.2504C= (p.Ala835=) n.2740C= n.2738C= | |
14 | g.91313204G>T | CA390629678 | CCDC88C | c.2612C>A (p.Ala871Glu) c.2504C>A (p.Ala835Glu) n.2740C>A n.2738C>A | |
14 | g.91313205C>A | CA390629680 | CCDC88C | c.2611G>T (p.Ala871Ser) c.2503G>T (p.Ala835Ser) n.2739G>T n.2737G>T | |
14 | g.91313205C= | CA2154878455 | CCDC88C | c.2611G= (p.Ala871=) c.2503G= (p.Ala835=) n.2739G= n.2737G= | |
14 | g.91313205C>G | CA390629681 | CCDC88C | c.2611G>C (p.Ala871Pro) c.2503G>C (p.Ala835Pro) n.2739G>C n.2737G>C | |
14 | g.91313205C>T | CA7309605 | CCDC88C | c.2611G>A (p.Ala871Thr) c.2503G>A (p.Ala835Thr) n.2739G>A n.2737G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313206G>A | CA487550454 | CCDC88C | c.2610C>T (p.Arg870=) c.2502C>T (p.Arg834=) n.2738C>T n.2736C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313206G>C | CA487550455 | CCDC88C | c.2610C>G (p.Arg870=) c.2502C>G (p.Arg834=) n.2738C>G n.2736C>G | |
14 | g.91313206G= | CA2154878458 | CCDC88C | c.2610C= (p.Arg870=) c.2502C= (p.Arg834=) n.2738C= n.2736C= | |
14 | g.91313206G>T | CA487550456 | CCDC88C | c.2610C>A (p.Arg870=) c.2502C>A (p.Arg834=) n.2738C>A n.2736C>A | |
14 | g.91313207C>A | CA390629682 | CCDC88C | c.2609G>T (p.Arg870Leu) c.2501G>T (p.Arg834Leu) n.2737G>T n.2735G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313207C= | CA2154878460 | CCDC88C | c.2609G= (p.Arg870=) c.2501G= (p.Arg834=) n.2737G= n.2735G= | |
14 | g.91313207C>G | CA390629683 | CCDC88C | c.2609G>C (p.Arg870Pro) c.2501G>C (p.Arg834Pro) n.2737G>C n.2735G>C | |
14 | g.91313207C>T | CA7309606 | CCDC88C | c.2609G>A (p.Arg870His) c.2501G>A (p.Arg834His) n.2737G>A n.2735G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313208G>A | CA7309607 | CCDC88C | c.2608C>T (p.Arg870Cys) c.2500C>T (p.Arg834Cys) n.2736C>T n.2734C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313208G>C | CA390629684 | CCDC88C | c.2608C>G (p.Arg870Gly) c.2500C>G (p.Arg834Gly) n.2736C>G n.2734C>G | |
14 | g.91313208G= | CA2154878463 | CCDC88C | c.2608C= (p.Arg870=) c.2500C= (p.Arg834=) n.2736C= n.2734C= | |
14 | g.91313208G>T | CA390629685 | CCDC88C | c.2608C>A (p.Arg870Ser) c.2500C>A (p.Arg834Ser) n.2736C>A n.2734C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313209G>A | CA487550460 | CCDC88C | c.2607C>T (p.Ser869=) c.2499C>T (p.Ser833=) n.2735C>T n.2733C>T | |
14 | g.91313209G>C | CA390629686 | CCDC88C | c.2607C>G (p.Ser869Arg) c.2499C>G (p.Ser833Arg) n.2735C>G n.2733C>G | |
14 | g.91313209G>T | CA390629687 | CCDC88C | c.2607C>A (p.Ser869Arg) c.2499C>A (p.Ser833Arg) n.2735C>A n.2733C>A | gnomAD v4 |
14 | g.91313210C>A | CA390629688 | CCDC88C | c.2606G>T (p.Ser869Ile) c.2498G>T (p.Ser833Ile) n.2734G>T n.2732G>T | |
14 | g.91313210C= | CA2154878477 | CCDC88C | c.2606G= (p.Ser869=) c.2498G= (p.Ser833=) n.2734G= n.2732G= | |
14 | g.91313210C>G | CA390629689 | CCDC88C | c.2606G>C (p.Ser869Thr) c.2498G>C (p.Ser833Thr) n.2734G>C n.2732G>C | |
14 | g.91313210C>T | CA265569232 | CCDC88C | c.2606G>A (p.Ser869Asn) c.2498G>A (p.Ser833Asn) n.2734G>A n.2732G>A | dbSNP gnomAD v4 |
14 | g.91313211T>A | CA7309608 | CCDC88C | c.2605A>T (p.Ser869Cys) c.2497A>T (p.Ser833Cys) n.2733A>T n.2731A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313211T>C | CA390629690 | CCDC88C | c.2605A>G (p.Ser869Gly) c.2497A>G (p.Ser833Gly) n.2733A>G n.2731A>G | |
14 | g.91313211T>G | CA390629691 | CCDC88C | c.2605A>C (p.Ser869Arg) c.2497A>C (p.Ser833Arg) n.2733A>C n.2731A>C | |
14 | g.91313211T= | CA2154878480 | CCDC88C | c.2605A= (p.Ser869=) c.2497A= (p.Ser833=) n.2733A= n.2731A= | |
14 | g.91313215_91313220del | CA2626130531 | CCDC88C | c.2600_2605del (p.Lys867_Glu868del) c.2492_2497del (p.Lys831_Glu832del) n.2728_2733del n.2726_2731del | gnomAD v4 |
14 | g.91313212C>A | CA390629692 | CCDC88C | c.2604G>T (p.Glu868Asp) c.2496G>T (p.Glu832Asp) n.2732G>T n.2730G>T | |
14 | g.91313212C>G | CA390629693 | CCDC88C | c.2604G>C (p.Glu868Asp) c.2496G>C (p.Glu832Asp) n.2732G>C n.2730G>C | |
14 | g.91313212C>T | CA487550464 | CCDC88C | c.2604G>A (p.Glu868=) c.2496G>A (p.Glu832=) n.2732G>A n.2730G>A | |
14 | g.91313213T>A | CA390629694 | CCDC88C | c.2603A>T (p.Glu868Val) c.2495A>T (p.Glu832Val) n.2731A>T n.2729A>T | |
14 | g.91313213T>C | CA390629695 | CCDC88C | c.2603A>G (p.Glu868Gly) c.2495A>G (p.Glu832Gly) n.2731A>G n.2729A>G | |
14 | g.91313213T>G | CA390629696 | CCDC88C | c.2603A>C (p.Glu868Ala) c.2495A>C (p.Glu832Ala) n.2731A>C n.2729A>C | |
14 | g.91313214C>A | CA390629697 | CCDC88C | c.2602G>T (p.Glu868Ter) c.2494G>T (p.Glu832Ter) n.2730G>T n.2728G>T | |
14 | g.91313214C>G | CA390629698 | CCDC88C | c.2602G>C (p.Glu868Gln) c.2494G>C (p.Glu832Gln) n.2730G>C n.2728G>C | |
14 | g.91313214C>T | CA390629699 | CCDC88C | c.2602G>A (p.Glu868Lys) c.2494G>A (p.Glu832Lys) n.2730G>A n.2728G>A | |
14 | g.91313214_91313217delinsCCTT | CA2154878481 | CCDC88C | c.2599_2602delinsAAGG (p.Lys867=) c.2491_2494delinsAAGG (p.Lys831=) n.2727_2730delinsAAGG n.2725_2728delinsAAGG | |
14 | g.91313215C>A | CA390629701 | CCDC88C | c.2601G>T (p.Lys867Asn) c.2493G>T (p.Lys831Asn) n.2729G>T n.2727G>T | |
14 | g.91313215C>G | CA390629700 | CCDC88C | c.2601G>C (p.Lys867Asn) c.2493G>C (p.Lys831Asn) n.2729G>C n.2727G>C | |
14 | g.91313215C>T | CA487550465 | CCDC88C | c.2601G>A (p.Lys867=) c.2493G>A (p.Lys831=) n.2729G>A n.2727G>A | |
14 | g.91313217_91313219del | CA7309609 | CCDC88C | c.2599_2601del (p.Lys867del) c.2491_2493del (p.Lys831del) n.2727_2729del n.2725_2727del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313216T>A | CA390629702 | CCDC88C | c.2600A>T (p.Lys867Met) c.2492A>T (p.Lys831Met) n.2728A>T n.2726A>T | |
14 | g.91313216T>C | CA265569281 | CCDC88C | c.2600A>G (p.Lys867Arg) c.2492A>G (p.Lys831Arg) n.2728A>G n.2726A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313216T>G | CA390629703 | CCDC88C | c.2600A>C (p.Lys867Thr) c.2492A>C (p.Lys831Thr) n.2728A>C n.2726A>C | |
14 | g.91313216T= | CA2154878482 | CCDC88C | c.2600A= (p.Lys867=) c.2492A= (p.Lys831=) n.2728A= n.2726A= | |
14 | g.91313218_91313234del | CA2626130534 | CCDC88C | c.2584_2600del (p.Leu862GlyfsTer?) c.2476_2492del (p.Leu826GlyfsTer?) n.2712_2728del n.2710_2726del | gnomAD v4 |
14 | g.91313217T>A | CA390629704 | CCDC88C | c.2599A>T (p.Lys867Ter) c.2491A>T (p.Lys831Ter) n.2727A>T n.2725A>T | |
14 | g.91313217T>C | CA7309610 | CCDC88C | c.2599A>G (p.Lys867Glu) c.2491A>G (p.Lys831Glu) n.2727A>G n.2725A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313217T>G | CA390629705 | CCDC88C | c.2599A>C (p.Lys867Gln) c.2491A>C (p.Lys831Gln) n.2727A>C n.2725A>C | |
14 | g.91313217T= | CA2154878483 | CCDC88C | c.2599A= (p.Lys867=) c.2491A= (p.Lys831=) n.2727A= n.2725A= | |
14 | g.91313218C>A | CA390629706 | CCDC88C | c.2598G>T (p.Glu866Asp) c.2490G>T (p.Glu830Asp) n.2726G>T n.2724G>T | |
14 | g.91313218C>G | CA390629707 | CCDC88C | c.2598G>C (p.Glu866Asp) c.2490G>C (p.Glu830Asp) n.2726G>C n.2724G>C | |
14 | g.91313218C>T | CA487550469 | CCDC88C | c.2598G>A (p.Glu866=) c.2490G>A (p.Glu830=) n.2726G>A n.2724G>A | |
14 | g.91313219T>A | CA390629708 | CCDC88C | c.2597A>T (p.Glu866Val) c.2489A>T (p.Glu830Val) n.2725A>T n.2723A>T | |
14 | g.91313219T>C | CA390629709 | CCDC88C | c.2597A>G (p.Glu866Gly) c.2489A>G (p.Glu830Gly) n.2725A>G n.2723A>G | |
14 | g.91313219T>G | CA390629710 | CCDC88C | c.2597A>C (p.Glu866Ala) c.2489A>C (p.Glu830Ala) n.2725A>C n.2723A>C | |
14 | g.91313220C>A | CA390629712 | CCDC88C | c.2596G>T (p.Glu866Ter) c.2488G>T (p.Glu830Ter) n.2724G>T n.2722G>T | |
14 | g.91313220C= | CA2154878484 | CCDC88C | c.2596G= (p.Glu866=) c.2488G= (p.Glu830=) n.2724G= n.2722G= | |
14 | g.91313220C>G | CA390629713 | CCDC88C | c.2596G>C (p.Glu866Gln) c.2488G>C (p.Glu830Gln) n.2724G>C n.2722G>C | |
14 | g.91313220C>T | CA390629711 | CCDC88C | c.2596G>A (p.Glu866Lys) c.2488G>A (p.Glu830Lys) n.2724G>A n.2722G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313221A>C | CA487550473 | CCDC88C | c.2595T>G (p.Val865=) c.2487T>G (p.Val829=) n.2723T>G n.2721T>G | |
14 | g.91313221A>G | CA487550475 | CCDC88C | c.2595T>C (p.Val865=) c.2487T>C (p.Val829=) n.2723T>C n.2721T>C | |
14 | g.91313221A>T | CA487550474 | CCDC88C | c.2595T>A (p.Val865=) c.2487T>A (p.Val829=) n.2723T>A n.2721T>A | |
14 | g.91313222A>C | CA390629714 | CCDC88C | c.2594T>G (p.Val865Gly) c.2486T>G (p.Val829Gly) n.2722T>G n.2720T>G | |
14 | g.91313222A>G | CA390629715 | CCDC88C | c.2594T>C (p.Val865Ala) c.2486T>C (p.Val829Ala) n.2722T>C n.2720T>C | |
14 | g.91313222A>T | CA390629716 | CCDC88C | c.2594T>A (p.Val865Asp) c.2486T>A (p.Val829Asp) n.2722T>A n.2720T>A | |
14 | g.91313223C>A | CA265569310 | CCDC88C | c.2593G>T (p.Val865Phe) c.2485G>T (p.Val829Phe) n.2721G>T n.2719G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313223C= | CA2154878485 | CCDC88C | c.2593G= (p.Val865=) c.2485G= (p.Val829=) n.2721G= n.2719G= | |
14 | g.91313223C>G | CA390629717 | CCDC88C | c.2593G>C (p.Val865Leu) c.2485G>C (p.Val829Leu) n.2721G>C n.2719G>C | |
14 | g.91313223C>T | CA7309611 | CCDC88C | c.2593G>A (p.Val865Ile) c.2485G>A (p.Val829Ile) n.2721G>A n.2719G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313224G>A | CA7309612 | CCDC88C | c.2592C>T (p.Ala864=) c.2484C>T (p.Ala828=) n.2720C>T n.2718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313224G>C | CA487550479 | CCDC88C | c.2592C>G (p.Ala864=) c.2484C>G (p.Ala828=) n.2720C>G n.2718C>G | |
14 | g.91313224G= | CA2154878486 | CCDC88C | c.2592C= (p.Ala864=) c.2484C= (p.Ala828=) n.2720C= n.2718C= | |
14 | g.91313224G>T | CA487550480 | CCDC88C | c.2592C>A (p.Ala864=) c.2484C>A (p.Ala828=) n.2720C>A n.2718C>A | |
14 | g.91313225G>A | CA390629718 | CCDC88C | c.2591C>T (p.Ala864Val) c.2483C>T (p.Ala828Val) n.2719C>T n.2717C>T | |
14 | g.91313225G>C | CA390629720 | CCDC88C | c.2591C>G (p.Ala864Gly) c.2483C>G (p.Ala828Gly) n.2719C>G n.2717C>G | |
14 | g.91313225G>T | CA390629719 | CCDC88C | c.2591C>A (p.Ala864Asp) c.2483C>A (p.Ala828Asp) n.2719C>A n.2717C>A | |
14 | g.91313226C>A | CA390629721 | CCDC88C | c.2590G>T (p.Ala864Ser) c.2482G>T (p.Ala828Ser) n.2718G>T n.2716G>T | |
14 | g.91313226C= | CA2154878487 | CCDC88C | c.2590G= (p.Ala864=) c.2482G= (p.Ala828=) n.2718G= n.2716G= | |
14 | g.91313226C>G | CA390629722 | CCDC88C | c.2590G>C (p.Ala864Pro) c.2482G>C (p.Ala828Pro) n.2718G>C n.2716G>C | |
14 | g.91313226C>T | CA7309613 | CCDC88C | c.2590G>A (p.Ala864Thr) c.2482G>A (p.Ala828Thr) n.2718G>A n.2716G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313227G>A | CA7309614 | CCDC88C | c.2589C>T (p.Ser863=) c.2481C>T (p.Ser827=) n.2717C>T n.2715C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313227G>C | CA487550481 | CCDC88C | c.2589C>G (p.Ser863=) c.2481C>G (p.Ser827=) n.2717C>G n.2715C>G | |
14 | g.91313227G= | CA2154878489 | CCDC88C | c.2589C= (p.Ser863=) c.2481C= (p.Ser827=) n.2717C= n.2715C= | |
14 | g.91313227G>T | CA487550482 | CCDC88C | c.2589C>A (p.Ser863=) c.2481C>A (p.Ser827=) n.2717C>A n.2715C>A | |
14 | g.91313228G>A | CA390629725 | CCDC88C | c.2588C>T (p.Ser863Phe) c.2480C>T (p.Ser827Phe) n.2716C>T n.2714C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313228G>C | CA390629723 | CCDC88C | c.2588C>G (p.Ser863Cys) c.2480C>G (p.Ser827Cys) n.2716C>G n.2714C>G | |
14 | g.91313228G= | CA2154878492 | CCDC88C | c.2588C= (p.Ser863=) c.2480C= (p.Ser827=) n.2716C= n.2714C= | |
14 | g.91313228G>T | CA390629724 | CCDC88C | c.2588C>A (p.Ser863Tyr) c.2480C>A (p.Ser827Tyr) n.2716C>A n.2714C>A | |
14 | g.91313228_91313230delinsGAC | CA2154878494 | CCDC88C | c.2586_2588delinsGTC (p.Leu862=) c.2478_2480delinsGTC (p.Leu826=) n.2714_2716delinsGTC n.2712_2714delinsGTC | |
14 | g.91313229A= | CA2154878497 | CCDC88C | c.2587T= (p.Ser863=) c.2479T= (p.Ser827=) n.2715T= n.2713T= | |
14 | g.91313229A>C | CA390629726 | CCDC88C | c.2587T>G (p.Ser863Ala) c.2479T>G (p.Ser827Ala) n.2715T>G n.2713T>G | |
14 | g.91313229A>G | CA390629727 | CCDC88C | c.2587T>C (p.Ser863Pro) c.2479T>C (p.Ser827Pro) n.2715T>C n.2713T>C | dbSNP |
14 | g.91313229A>T | CA390629728 | CCDC88C | c.2587T>A (p.Ser863Thr) c.2479T>A (p.Ser827Thr) n.2715T>A n.2713T>A | |
14 | g.91313230_91313231del | CA2154878496 | CCDC88C | c.2586_2587del (p.Ser863ArgfsTer3) c.2478_2479del (p.Ser827ArgfsTer3) n.2714_2715del n.2712_2713del | dbSNP |
14 | g.91313230C>A | CA487550486 | CCDC88C | c.2586G>T (p.Leu862=) c.2478G>T (p.Leu826=) n.2714G>T n.2712G>T | |
14 | g.91313230C= | CA2154878501 | CCDC88C | c.2586G= (p.Leu862=) c.2478G= (p.Leu826=) n.2714G= n.2712G= | |
14 | g.91313230C>G | CA487550487 | CCDC88C | c.2586G>C (p.Leu862=) c.2478G>C (p.Leu826=) n.2714G>C n.2712G>C | COSMIC COSMIC |
14 | g.91313230C>T | CA487550488 | CCDC88C | c.2586G>A (p.Leu862=) c.2478G>A (p.Leu826=) n.2714G>A n.2712G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313231A= | CA2154878503 | CCDC88C | c.2585T= (p.Leu862=) c.2477T= (p.Leu826=) n.2713T= n.2711T= | |
14 | g.91313231A>C | CA390629729 | CCDC88C | c.2585T>G (p.Leu862Arg) c.2477T>G (p.Leu826Arg) n.2713T>G n.2711T>G | |
14 | g.91313231A>G | CA390629730 | CCDC88C | c.2585T>C (p.Leu862Pro) c.2477T>C (p.Leu826Pro) n.2713T>C n.2711T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313231A>T | CA390629731 | CCDC88C | c.2585T>A (p.Leu862Gln) c.2477T>A (p.Leu826Gln) n.2713T>A n.2711T>A | |
14 | g.91313232G>A | CA487550489 | CCDC88C | c.2584C>T (p.Leu862=) c.2476C>T (p.Leu826=) n.2712C>T n.2710C>T | |
14 | g.91313232G>C | CA390629732 | CCDC88C | c.2584C>G (p.Leu862Val) c.2476C>G (p.Leu826Val) n.2712C>G n.2710C>G | |
14 | g.91313232G>T | CA390629733 | CCDC88C | c.2584C>A (p.Leu862Met) c.2476C>A (p.Leu826Met) n.2712C>A n.2710C>A | |
14 | g.91313233T>A | CA390629734 | CCDC88C | c.2583A>T (p.Lys861Asn) c.2475A>T (p.Lys825Asn) n.2711A>T n.2709A>T | |
14 | g.91313233T>C | CA487550493 | CCDC88C | c.2583A>G (p.Lys861=) c.2475A>G (p.Lys825=) n.2711A>G n.2709A>G | |
14 | g.91313233T>G | CA390629735 | CCDC88C | c.2583A>C (p.Lys861Asn) c.2475A>C (p.Lys825Asn) n.2711A>C n.2709A>C | |
14 | g.91313234T>A | CA390629736 | CCDC88C | c.2582A>T (p.Lys861Ile) c.2474A>T (p.Lys825Ile) n.2710A>T n.2708A>T | |
14 | g.91313234T>C | CA390629737 | CCDC88C | c.2582A>G (p.Lys861Arg) c.2474A>G (p.Lys825Arg) n.2710A>G n.2708A>G | |
14 | g.91313234T>G | CA390629738 | CCDC88C | c.2582A>C (p.Lys861Thr) c.2474A>C (p.Lys825Thr) n.2710A>C n.2708A>C | |
14 | g.91313235T>A | CA390629739 | CCDC88C | c.2581A>T (p.Lys861Ter) c.2473A>T (p.Lys825Ter) n.2709A>T n.2707A>T | |
14 | g.91313235T>C | CA390629741 | CCDC88C | c.2581A>G (p.Lys861Glu) c.2473A>G (p.Lys825Glu) n.2709A>G n.2707A>G | |
14 | g.91313235T>G | CA390629740 | CCDC88C | c.2581A>C (p.Lys861Gln) c.2473A>C (p.Lys825Gln) n.2709A>C n.2707A>C | gnomAD v4 |
14 | g.91313236G>A | CA487550496 | CCDC88C | c.2580C>T (p.Ala860=) c.2472C>T (p.Ala824=) n.2708C>T n.2706C>T | gnomAD v4 |
14 | g.91313236G>C | CA487550495 | CCDC88C | c.2580C>G (p.Ala860=) c.2472C>G (p.Ala824=) n.2708C>G n.2706C>G | |
14 | g.91313236G>T | CA487550494 | CCDC88C | c.2580C>A (p.Ala860=) c.2472C>A (p.Ala824=) n.2708C>A n.2706C>A | |
14 | g.91313237G>A | CA390629742 | CCDC88C | c.2579C>T (p.Ala860Val) c.2471C>T (p.Ala824Val) n.2707C>T n.2705C>T | |
14 | g.91313237G>C | CA390629743 | CCDC88C | c.2579C>G (p.Ala860Gly) c.2471C>G (p.Ala824Gly) n.2707C>G n.2705C>G | |
14 | g.91313237G>T | CA390629744 | CCDC88C | c.2579C>A (p.Ala860Asp) c.2471C>A (p.Ala824Asp) n.2707C>A n.2705C>A | |
14 | g.91313238C>A | CA390629745 | CCDC88C | c.2578G>T (p.Ala860Ser) c.2470G>T (p.Ala824Ser) n.2706G>T n.2704G>T | |
14 | g.91313238C>G | CA390629746 | CCDC88C | c.2578G>C (p.Ala860Pro) c.2470G>C (p.Ala824Pro) n.2706G>C n.2704G>C | |
14 | g.91313238C>T | CA390629747 | CCDC88C | c.2578G>A (p.Ala860Thr) c.2470G>A (p.Ala824Thr) n.2706G>A n.2704G>A | gnomAD v4 |
14 | g.91313239A>C | CA487550500 | CCDC88C | c.2577T>G (p.Thr859=) c.2469T>G (p.Thr823=) n.2705T>G n.2703T>G | dbSNP |
14 | g.91313239A>G | CA487550502 | CCDC88C | c.2577T>C (p.Thr859=) c.2469T>C (p.Thr823=) n.2705T>C n.2703T>C | gnomAD v4 |
14 | g.91313239A>T | CA487550501 | CCDC88C | c.2577T>A (p.Thr859=) c.2469T>A (p.Thr823=) n.2705T>A n.2703T>A | |
14 | g.91313240G>A | CA390629748 | CCDC88C | c.2576C>T (p.Thr859Ile) c.2468C>T (p.Thr823Ile) n.2704C>T n.2702C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313240G>C | CA390629749 | CCDC88C | c.2576C>G (p.Thr859Ser) c.2468C>G (p.Thr823Ser) n.2704C>G n.2702C>G | |
14 | g.91313240G= | CA2154878505 | CCDC88C | c.2576C= (p.Thr859=) c.2468C= (p.Thr823=) n.2704C= n.2702C= | |
14 | g.91313240G>T | CA390629750 | CCDC88C | c.2576C>A (p.Thr859Asn) c.2468C>A (p.Thr823Asn) n.2704C>A n.2702C>A | |
14 | g.91313242_91313249del | CA2575603436 | CCDC88C | c.2569_2576del (p.Asp857CysfsTer7) c.2461_2468del (p.Asp821CysfsTer7) n.2697_2704del n.2695_2702del | |
14 | g.91313241T>A | CA390629751 | CCDC88C | c.2575A>T (p.Thr859Ser) c.2467A>T (p.Thr823Ser) n.2703A>T n.2701A>T | |
14 | g.91313241T>C | CA390629752 | CCDC88C | c.2575A>G (p.Thr859Ala) c.2467A>G (p.Thr823Ala) n.2703A>G n.2701A>G | COSMIC COSMIC |
14 | g.91313241T>G | CA390629753 | CCDC88C | c.2575A>C (p.Thr859Pro) c.2467A>C (p.Thr823Pro) n.2703A>C n.2701A>C | |
14 | g.91313241_91313282delinsTGCTATCGTCCAAGACTGCATCCTTGAGCTCCACCTGCTGCC | CA2154878511 | CCDC88C | c.2534_2575delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA (p.Trp845=) c.2426_2467delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA (p.Trp809=) n.2662_2703delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA n.2660_2701delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA | |
14 | g.91313242G>A | CA7309615 | CCDC88C | c.2574C>T (p.Ser858=) c.2466C>T (p.Ser822=) n.2702C>T n.2700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313242G>C | CA390629755 | CCDC88C | c.2574C>G (p.Ser858Arg) c.2466C>G (p.Ser822Arg) n.2702C>G n.2700C>G | |
14 | g.91313242G= | CA2154878515 | CCDC88C | c.2574C= (p.Ser858=) c.2466C= (p.Ser822=) n.2702C= n.2700C= | |
14 | g.91313242G>T | CA390629754 | CCDC88C | c.2574C>A (p.Ser858Arg) c.2466C>A (p.Ser822Arg) n.2702C>A n.2700C>A | |
14 | g.91313242_91313282del | CA616112454 | CCDC88C | c.2534_2574del (p.Trp845TyrfsTer8) c.2426_2466del (p.Trp809TyrfsTer8) n.2662_2702del n.2660_2700del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313243C>A | CA390629756 | CCDC88C | c.2573G>T (p.Ser858Ile) c.2465G>T (p.Ser822Ile) n.2701G>T n.2699G>T | |
14 | g.91313243C>G | CA390629757 | CCDC88C | c.2573G>C (p.Ser858Thr) c.2465G>C (p.Ser822Thr) n.2701G>C n.2699G>C | gnomAD v4 |
14 | g.91313243C>T | CA390629758 | CCDC88C | c.2573G>A (p.Ser858Asn) c.2465G>A (p.Ser822Asn) n.2701G>A n.2699G>A | |
14 | g.91313244T>A | CA390629759 | CCDC88C | c.2572A>T (p.Ser858Cys) c.2464A>T (p.Ser822Cys) n.2700A>T n.2698A>T | |
14 | g.91313244T>C | CA390629760 | CCDC88C | c.2572A>G (p.Ser858Gly) c.2464A>G (p.Ser822Gly) n.2700A>G n.2698A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313244T>G | CA390629761 | CCDC88C | c.2572A>C (p.Ser858Arg) c.2464A>C (p.Ser822Arg) n.2700A>C n.2698A>C | |
14 | g.91313244T= | CA2154878518 | CCDC88C | c.2572A= (p.Ser858=) c.2464A= (p.Ser822=) n.2700A= n.2698A= | |
14 | g.91313245A= | CA2154878521 | CCDC88C | c.2571T= (p.Asp857=) c.2463T= (p.Asp821=) n.2699T= n.2697T= | |
14 | g.91313245A>C | CA390629762 | CCDC88C | c.2571T>G (p.Asp857Glu) c.2463T>G (p.Asp821Glu) n.2699T>G n.2697T>G | |
14 | g.91313245A>G | CA7309616 | CCDC88C | c.2571T>C (p.Asp857=) c.2463T>C (p.Asp821=) n.2699T>C n.2697T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313245A>T | CA7309617 | CCDC88C | c.2571T>A (p.Asp857Glu) c.2463T>A (p.Asp821Glu) n.2699T>A n.2697T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313246T>A | CA390629763 | CCDC88C | c.2570A>T (p.Asp857Val) c.2462A>T (p.Asp821Val) n.2698A>T n.2696A>T | |
14 | g.91313246T>C | CA390629764 | CCDC88C | c.2570A>G (p.Asp857Gly) c.2462A>G (p.Asp821Gly) n.2698A>G n.2696A>G | |
14 | g.91313246T>G | CA390629765 | CCDC88C | c.2570A>C (p.Asp857Ala) c.2462A>C (p.Asp821Ala) n.2698A>C n.2696A>C | |
14 | g.91313247C>A | CA390629767 | CCDC88C | c.2569G>T (p.Asp857Tyr) c.2461G>T (p.Asp821Tyr) n.2697G>T n.2695G>T | |
14 | g.91313247C= | CA2154878524 | CCDC88C | c.2569G= (p.Asp857=) c.2461G= (p.Asp821=) n.2697G= n.2695G= | |
14 | g.91313247C>G | CA390629766 | CCDC88C | c.2569G>C (p.Asp857His) c.2461G>C (p.Asp821His) n.2697G>C n.2695G>C | |
14 | g.91313247C>T | CA7309618 | CCDC88C | c.2569G>A (p.Asp857Asn) c.2461G>A (p.Asp821Asn) n.2697G>A n.2695G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313248G>A | CA7309619 | CCDC88C | c.2568C>T (p.Asp856=) c.2460C>T (p.Asp820=) n.2696C>T n.2694C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313248G>C | CA390629769 | CCDC88C | c.2568C>G (p.Asp856Glu) c.2460C>G (p.Asp820Glu) n.2696C>G n.2694C>G | gnomAD v4 |
14 | g.91313248G= | CA2154878530 | CCDC88C | c.2568C= (p.Asp856=) c.2460C= (p.Asp820=) n.2696C= n.2694C= | |
14 | g.91313248G>T | CA390629768 | CCDC88C | c.2568C>A (p.Asp856Glu) c.2460C>A (p.Asp820Glu) n.2696C>A n.2694C>A | |
14 | g.91313249del | CA2626130579 | CCDC88C | c.2567del (p.Asp856AlafsTer?) c.2459del (p.Asp820AlafsTer?) n.2695del n.2693del | gnomAD v4 |
14 | g.91313249T>A | CA390629770 | CCDC88C | c.2567A>T (p.Asp856Val) c.2459A>T (p.Asp820Val) n.2695A>T n.2693A>T | |
14 | g.91313249T>C | CA390629771 | CCDC88C | c.2567A>G (p.Asp856Gly) c.2459A>G (p.Asp820Gly) n.2695A>G n.2693A>G | dbSNP |
14 | g.91313249T>G | CA390629772 | CCDC88C | c.2567A>C (p.Asp856Ala) c.2459A>C (p.Asp820Ala) n.2695A>C n.2693A>C | |
14 | g.91313249T= | CA2154878534 | CCDC88C | c.2567A= (p.Asp856=) c.2459A= (p.Asp820=) n.2695A= n.2693A= | |
14 | g.91313250C>A | CA390629773 | CCDC88C | c.2566G>T (p.Asp856Tyr) c.2458G>T (p.Asp820Tyr) n.2694G>T n.2692G>T | |
14 | g.91313250C>G | CA390629774 | CCDC88C | c.2566G>C (p.Asp856His) c.2458G>C (p.Asp820His) n.2694G>C n.2692G>C | |
14 | g.91313250C>T | CA390629775 | CCDC88C | c.2566G>A (p.Asp856Asn) c.2458G>A (p.Asp820Asn) n.2694G>A n.2692G>A | |
14 | g.91313251dup | CA2154878536 | CCDC88C | c.2566dup (p.Asp856GlyfsTer3) c.2458dup (p.Asp820GlyfsTer3) n.2694dup n.2692dup | dbSNP |
14 | g.91313251C>A | CA390629776 | CCDC88C | c.2565G>T (p.Leu855Phe) c.2457G>T (p.Leu819Phe) n.2693G>T n.2691G>T | |
14 | g.91313251C>G | CA390629777 | CCDC88C | c.2565G>C (p.Leu855Phe) c.2457G>C (p.Leu819Phe) n.2693G>C n.2691G>C | |
14 | g.91313251C>T | CA487550508 | CCDC88C | c.2565G>A (p.Leu855=) c.2457G>A (p.Leu819=) n.2693G>A n.2691G>A | ClinVar gnomAD v4 |
14 | g.91313252A>C | CA390629778 | CCDC88C | c.2564T>G (p.Leu855Trp) c.2456T>G (p.Leu819Trp) n.2692T>G n.2690T>G | |
14 | g.91313252A>G | CA390629779 | CCDC88C | c.2564T>C (p.Leu855Ser) c.2456T>C (p.Leu819Ser) n.2692T>C n.2690T>C | |
14 | g.91313252A>T | CA390629780 | CCDC88C | c.2564T>A (p.Leu855Ter) c.2456T>A (p.Leu819Ter) n.2692T>A n.2690T>A | |
14 | g.91313253A= | CA2154878539 | CCDC88C | c.2563T= (p.Leu855=) c.2455T= (p.Leu819=) n.2691T= n.2689T= | |
14 | g.91313253A>C | CA390629781 | CCDC88C | c.2563T>G (p.Leu855Val) c.2455T>G (p.Leu819Val) n.2691T>G n.2689T>G | |
14 | g.91313253A>G | CA487550511 | CCDC88C | c.2563T>C (p.Leu855=) c.2455T>C (p.Leu819=) n.2691T>C n.2689T>C | dbSNP |
14 | g.91313253A>T | CA390629782 | CCDC88C | c.2563T>A (p.Leu855Met) c.2455T>A (p.Leu819Met) n.2691T>A n.2689T>A | |
14 | g.91313254G>A | CA487550512 | CCDC88C | c.2562C>T (p.Val854=) c.2454C>T (p.Val818=) n.2690C>T n.2688C>T | |
14 | g.91313254G>C | CA487550513 | CCDC88C | c.2562C>G (p.Val854=) c.2454C>G (p.Val818=) n.2690C>G n.2688C>G | |
14 | g.91313254G= | CA2154878541 | CCDC88C | c.2562C= (p.Val854=) c.2454C= (p.Val818=) n.2690C= n.2688C= | |
14 | g.91313254G>T | CA265569382 | CCDC88C | c.2562C>A (p.Val854=) c.2454C>A (p.Val818=) n.2690C>A n.2688C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313255A>C | CA390629783 | CCDC88C | c.2561T>G (p.Val854Gly) c.2453T>G (p.Val818Gly) n.2689T>G n.2687T>G | gnomAD v4 |
14 | g.91313255A>G | CA390629784 | CCDC88C | c.2561T>C (p.Val854Ala) c.2453T>C (p.Val818Ala) n.2689T>C n.2687T>C | |
14 | g.91313255A>T | CA390629785 | CCDC88C | c.2561T>A (p.Val854Asp) c.2453T>A (p.Val818Asp) n.2689T>A n.2687T>A | |
14 | g.91313256C>A | CA390629786 | CCDC88C | c.2560G>T (p.Val854Phe) c.2452G>T (p.Val818Phe) n.2688G>T n.2686G>T | |
14 | g.91313256C>G | CA390629787 | CCDC88C | c.2560G>C (p.Val854Leu) c.2452G>C (p.Val818Leu) n.2688G>C n.2686G>C | |
14 | g.91313256C>T | CA390629788 | CCDC88C | c.2560G>A (p.Val854Ile) c.2452G>A (p.Val818Ile) n.2688G>A n.2686G>A | |
14 | g.91313257T>A | CA487550516 | CCDC88C | c.2559A>T (p.Ala853=) c.2451A>T (p.Ala817=) n.2687A>T n.2685A>T | |
14 | g.91313257T>C | CA487550518 | CCDC88C | c.2559A>G (p.Ala853=) c.2451A>G (p.Ala817=) n.2687A>G n.2685A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313257T>G | CA487550519 | CCDC88C | c.2559A>C (p.Ala853=) c.2451A>C (p.Ala817=) n.2687A>C n.2685A>C | |
14 | g.91313257T= | CA2154878542 | CCDC88C | c.2559A= (p.Ala853=) c.2451A= (p.Ala817=) n.2687A= n.2685A= | |
14 | g.91313258G>A | CA390629789 | CCDC88C | c.2558C>T (p.Ala853Val) c.2450C>T (p.Ala817Val) n.2686C>T n.2684C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313258G>C | CA390629790 | CCDC88C | c.2558C>G (p.Ala853Gly) c.2450C>G (p.Ala817Gly) n.2686C>G n.2684C>G | |
14 | g.91313258G= | CA2154878544 | CCDC88C | c.2558C= (p.Ala853=) c.2450C= (p.Ala817=) n.2686C= n.2684C= | |
14 | g.91313258G>T | CA390629791 | CCDC88C | c.2558C>A (p.Ala853Glu) c.2450C>A (p.Ala817Glu) n.2686C>A n.2684C>A | |
14 | g.91313259C>A | CA390629792 | CCDC88C | c.2557G>T (p.Ala853Ser) c.2449G>T (p.Ala817Ser) n.2685G>T n.2683G>T | |
14 | g.91313259C>G | CA390629793 | CCDC88C | c.2557G>C (p.Ala853Pro) c.2449G>C (p.Ala817Pro) n.2685G>C n.2683G>C | |
14 | g.91313259C>T | CA390629794 | CCDC88C | c.2557G>A (p.Ala853Thr) c.2449G>A (p.Ala817Thr) n.2685G>A n.2683G>A | |
14 | g.91313260A>C | CA390629795 | CCDC88C | c.2556T>G (p.Asp852Glu) c.2448T>G (p.Asp816Glu) n.2684T>G n.2682T>G | |
14 | g.91313260A>G | CA487550520 | CCDC88C | c.2556T>C (p.Asp852=) c.2448T>C (p.Asp816=) n.2684T>C n.2682T>C | gnomAD v4 |
14 | g.91313260A>T | CA390629796 | CCDC88C | c.2556T>A (p.Asp852Glu) c.2448T>A (p.Asp816Glu) n.2684T>A n.2682T>A | |
14 | g.91313261T>A | CA390629797 | CCDC88C | c.2555A>T (p.Asp852Val) c.2447A>T (p.Asp816Val) n.2683A>T n.2681A>T | |
14 | g.91313261T>C | CA390629799 | CCDC88C | c.2555A>G (p.Asp852Gly) c.2447A>G (p.Asp816Gly) n.2683A>G n.2681A>G | dbSNP |
14 | g.91313261T>G | CA390629798 | CCDC88C | c.2555A>C (p.Asp852Ala) c.2447A>C (p.Asp816Ala) n.2683A>C n.2681A>C | |
14 | g.91313261T= | CA2154878546 | CCDC88C | c.2555A= (p.Asp852=) c.2447A= (p.Asp816=) n.2683A= n.2681A= | |
14 | g.91313262C>A | CA390629800 | CCDC88C | c.2554G>T (p.Asp852Tyr) c.2446G>T (p.Asp816Tyr) n.2682G>T n.2680G>T | |
14 | g.91313262C= | CA2154878551 | CCDC88C | c.2554G= (p.Asp852=) c.2446G= (p.Asp816=) n.2682G= n.2680G= | |
14 | g.91313262C>G | CA7309620 | CCDC88C | c.2554G>C (p.Asp852His) c.2446G>C (p.Asp816His) n.2682G>C n.2680G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313262C>T | CA7309621 | CCDC88C | c.2554G>A (p.Asp852Asn) c.2446G>A (p.Asp816Asn) n.2682G>A n.2680G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313263C>A | CA390629801 | CCDC88C | c.2553G>T (p.Lys851Asn) c.2445G>T (p.Lys815Asn) n.2681G>T n.2679G>T | |
14 | g.91313263C= | CA2154878560 | CCDC88C | c.2553G= (p.Lys851=) c.2445G= (p.Lys815=) n.2681G= n.2679G= | |
14 | g.91313263C>G | CA390629802 | CCDC88C | c.2553G>C (p.Lys851Asn) c.2445G>C (p.Lys815Asn) n.2681G>C n.2679G>C | |
14 | g.91313263C>T | CA265569388 | CCDC88C | c.2553G>A (p.Lys851=) c.2445G>A (p.Lys815=) n.2681G>A n.2679G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313264T>A | CA390629805 | CCDC88C | c.2552A>T (p.Lys851Met) c.2444A>T (p.Lys815Met) n.2680A>T n.2678A>T | gnomAD v4 |
14 | g.91313264T>C | CA390629804 | CCDC88C | c.2552A>G (p.Lys851Arg) c.2444A>G (p.Lys815Arg) n.2680A>G n.2678A>G | gnomAD v4 |
14 | g.91313264T>G | CA390629803 | CCDC88C | c.2552A>C (p.Lys851Thr) c.2444A>C (p.Lys815Thr) n.2680A>C n.2678A>C | |
14 | g.91313265T>A | CA390629806 | CCDC88C | c.2551A>T (p.Lys851Ter) c.2443A>T (p.Lys815Ter) n.2679A>T n.2677A>T | |
14 | g.91313265T>C | CA390629807 | CCDC88C | c.2551A>G (p.Lys851Glu) c.2443A>G (p.Lys815Glu) n.2679A>G n.2677A>G | |
14 | g.91313265T>G | CA390629808 | CCDC88C | c.2551A>C (p.Lys851Gln) c.2443A>C (p.Lys815Gln) n.2679A>C n.2677A>C | |
14 | g.91313266G>A | CA487550524 | CCDC88C | c.2550C>T (p.Leu850=) c.2442C>T (p.Leu814=) n.2678C>T n.2676C>T | gnomAD v4 |
14 | g.91313266G>C | CA487550526 | CCDC88C | c.2550C>G (p.Leu850=) c.2442C>G (p.Leu814=) n.2678C>G n.2676C>G | |
14 | g.91313266G>T | CA487550528 | CCDC88C | c.2550C>A (p.Leu850=) c.2442C>A (p.Leu814=) n.2678C>A n.2676C>A | |
14 | g.91313267A= | CA2154878564 | CCDC88C | c.2549T= (p.Leu850=) c.2441T= (p.Leu814=) n.2677T= n.2675T= | |
14 | g.91313267A>C | CA390629809 | CCDC88C | c.2549T>G (p.Leu850Arg) c.2441T>G (p.Leu814Arg) n.2677T>G n.2675T>G | |
14 | g.91313267A>G | CA7309622 | CCDC88C | c.2549T>C (p.Leu850Pro) c.2441T>C (p.Leu814Pro) n.2677T>C n.2675T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313267A>T | CA390629810 | CCDC88C | c.2549T>A (p.Leu850His) c.2441T>A (p.Leu814His) n.2677T>A n.2675T>A | |
14 | g.91313268G>A | CA390629811 | CCDC88C | c.2548C>T (p.Leu850Phe) c.2440C>T (p.Leu814Phe) n.2676C>T n.2674C>T | dbSNP |
14 | g.91313268G>C | CA390629813 | CCDC88C | c.2548C>G (p.Leu850Val) c.2440C>G (p.Leu814Val) n.2676C>G n.2674C>G | |
14 | g.91313268G= | CA2154878566 | CCDC88C | c.2548C= (p.Leu850=) c.2440C= (p.Leu814=) n.2676C= n.2674C= | |
14 | g.91313268G>T | CA390629812 | CCDC88C | c.2548C>A (p.Leu850Ile) c.2440C>A (p.Leu814Ile) n.2676C>A n.2674C>A | |
14 | g.91313269C>A | CA390629814 | CCDC88C | c.2547G>T (p.Glu849Asp) c.2439G>T (p.Glu813Asp) n.2675G>T n.2673G>T | |
14 | g.91313269C>G | CA390629815 | CCDC88C | c.2547G>C (p.Glu849Asp) c.2439G>C (p.Glu813Asp) n.2675G>C n.2673G>C | |
14 | g.91313269C>T | CA487550530 | CCDC88C | c.2547G>A (p.Glu849=) c.2439G>A (p.Glu813=) n.2675G>A n.2673G>A | |
14 | g.91313270_91313272dup | CA2626130601 | CCDC88C | c.2545_2547dup (p.Glu849_Leu850insGlu) c.2437_2439dup (p.Glu813_Leu814insGlu) n.2673_2675dup n.2671_2673dup | gnomAD v4 |
14 | g.91313270T>A | CA390629816 | CCDC88C | c.2546A>T (p.Glu849Val) c.2438A>T (p.Glu813Val) n.2674A>T n.2672A>T | |
14 | g.91313270T>C | CA390629817 | CCDC88C | c.2546A>G (p.Glu849Gly) c.2438A>G (p.Glu813Gly) n.2674A>G n.2672A>G | |
14 | g.91313270T>G | CA390629818 | CCDC88C | c.2546A>C (p.Glu849Ala) c.2438A>C (p.Glu813Ala) n.2674A>C n.2672A>C | |
14 | g.91313271C>A | CA390629819 | CCDC88C | c.2545G>T (p.Glu849Ter) c.2437G>T (p.Glu813Ter) n.2673G>T n.2671G>T | |
14 | g.91313271C>G | CA390629820 | CCDC88C | c.2545G>C (p.Glu849Gln) c.2437G>C (p.Glu813Gln) n.2673G>C n.2671G>C | |
14 | g.91313271C>T | CA390629821 | CCDC88C | c.2545G>A (p.Glu849Lys) c.2437G>A (p.Glu813Lys) n.2673G>A n.2671G>A | |
14 | g.91313272C>A | CA487550535 | CCDC88C | c.2544G>T (p.Val848=) c.2436G>T (p.Val812=) n.2672G>T n.2670G>T | |
14 | g.91313272C>G | CA487550536 | CCDC88C | c.2544G>C (p.Val848=) c.2436G>C (p.Val812=) n.2672G>C n.2670G>C | |
14 | g.91313272C>T | CA487550537 | CCDC88C | c.2544G>A (p.Val848=) c.2436G>A (p.Val812=) n.2672G>A n.2670G>A | gnomAD v4 |
14 | g.91313273A= | CA2154878571 | CCDC88C | c.2543T= (p.Val848=) c.2435T= (p.Val812=) n.2671T= n.2669T= | |
14 | g.91313273A>C | CA7309623 | CCDC88C | c.2543T>G (p.Val848Gly) c.2435T>G (p.Val812Gly) n.2671T>G n.2669T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313273A>G | CA390629822 | CCDC88C | c.2543T>C (p.Val848Ala) c.2435T>C (p.Val812Ala) n.2671T>C n.2669T>C | gnomAD v4 |
14 | g.91313273A>T | CA390629823 | CCDC88C | c.2543T>A (p.Val848Glu) c.2435T>A (p.Val812Glu) n.2671T>A n.2669T>A | |
14 | g.91313273_91313282delinsACCTGCTGCC | CA2154878572 | CCDC88C | c.2534_2543delinsGGCAGCAGGT (p.Trp845=) c.2426_2435delinsGGCAGCAGGT (p.Trp809=) n.2662_2671delinsGGCAGCAGGT n.2660_2669delinsGGCAGCAGGT | |
14 | g.91313274C>A | CA390629824 | CCDC88C | c.2542G>T (p.Val848Leu) c.2434G>T (p.Val812Leu) n.2670G>T n.2668G>T | |
14 | g.91313274C= | CA2154878577 | CCDC88C | c.2542G= (p.Val848=) c.2434G= (p.Val812=) n.2670G= n.2668G= | |
14 | g.91313274C>G | CA390629825 | CCDC88C | c.2542G>C (p.Val848Leu) c.2434G>C (p.Val812Leu) n.2670G>C n.2668G>C | |
14 | g.91313274C>T | CA390629826 | CCDC88C | c.2542G>A (p.Val848Met) c.2434G>A (p.Val812Met) n.2670G>A n.2668G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313274_91313282del | CA7309624 | CCDC88C | c.2534_2542del (p.Trp845_Val848delinsLeu) c.2426_2434del (p.Trp809_Val812delinsLeu) n.2662_2670del n.2660_2668del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313275C>A | CA390629827 | CCDC88C | c.2541G>T (p.Gln847His) c.2433G>T (p.Gln811His) n.2669G>T n.2667G>T | |
14 | g.91313275C>G | CA390629828 | CCDC88C | c.2541G>C (p.Gln847His) c.2433G>C (p.Gln811His) n.2669G>C n.2667G>C | |
14 | g.91313275C>T | CA487550538 | CCDC88C | c.2541G>A (p.Gln847=) c.2433G>A (p.Gln811=) n.2669G>A n.2667G>A | |
14 | g.91313276T>A | CA390629829 | CCDC88C | c.2540A>T (p.Gln847Leu) c.2432A>T (p.Gln811Leu) n.2668A>T n.2666A>T | |
14 | g.91313276T>C | CA390629830 | CCDC88C | c.2540A>G (p.Gln847Arg) c.2432A>G (p.Gln811Arg) n.2668A>G n.2666A>G | |
14 | g.91313276T>G | CA390629831 | CCDC88C | c.2540A>C (p.Gln847Pro) c.2432A>C (p.Gln811Pro) n.2668A>C n.2666A>C | |
14 | g.91313277G>A | CA390629834 | CCDC88C | c.2539C>T (p.Gln847Ter) c.2431C>T (p.Gln811Ter) n.2667C>T n.2665C>T | dbSNP |
14 | g.91313277G>C | CA390629832 | CCDC88C | c.2539C>G (p.Gln847Glu) c.2431C>G (p.Gln811Glu) n.2667C>G n.2665C>G | |
14 | g.91313277G= | CA2154878580 | CCDC88C | c.2539C= (p.Gln847=) c.2431C= (p.Gln811=) n.2667C= n.2665C= | |
14 | g.91313277G>T | CA390629833 | CCDC88C | c.2539C>A (p.Gln847Lys) c.2431C>A (p.Gln811Lys) n.2667C>A n.2665C>A | |
14 | g.91313278C>A | CA390629835 | CCDC88C | c.2538G>T (p.Gln846His) c.2430G>T (p.Gln810His) n.2666G>T n.2664G>T | |
14 | g.91313278C= | CA2154878581 | CCDC88C | c.2538G= (p.Gln846=) c.2430G= (p.Gln810=) n.2666G= n.2664G= | |
14 | g.91313278C>G | CA390629836 | CCDC88C | c.2538G>C (p.Gln846His) c.2430G>C (p.Gln810His) n.2666G>C n.2664G>C | |
14 | g.91313278C>T | CA487550542 | CCDC88C | c.2538G>A (p.Gln846=) c.2430G>A (p.Gln810=) n.2666G>A n.2664G>A | dbSNP |
14 | g.91313279T>A | CA390629837 | CCDC88C | c.2537A>T (p.Gln846Leu) c.2429A>T (p.Gln810Leu) n.2665A>T n.2663A>T | |
14 | g.91313279T>C | CA390629838 | CCDC88C | c.2537A>G (p.Gln846Arg) c.2429A>G (p.Gln810Arg) n.2665A>G n.2663A>G | |
14 | g.91313279T>G | CA390629839 | CCDC88C | c.2537A>C (p.Gln846Pro) c.2429A>C (p.Gln810Pro) n.2665A>C n.2663A>C | |
14 | g.91313280G>A | CA390629842 | CCDC88C | c.2536C>T (p.Gln846Ter) c.2428C>T (p.Gln810Ter) n.2664C>T n.2662C>T | |
14 | g.91313280G>C | CA390629840 | CCDC88C | c.2536C>G (p.Gln846Glu) c.2428C>G (p.Gln810Glu) n.2664C>G n.2662C>G | |
14 | g.91313280G>T | CA390629841 | CCDC88C | c.2536C>A (p.Gln846Lys) c.2428C>A (p.Gln810Lys) n.2664C>A n.2662C>A | |
14 | g.91313281C>A | CA390629843 | CCDC88C | c.2535G>T (p.Trp845Cys) c.2427G>T (p.Trp809Cys) n.2663G>T n.2661G>T | gnomAD v4 |
14 | g.91313281C>G | CA390629844 | CCDC88C | c.2535G>C (p.Trp845Cys) c.2427G>C (p.Trp809Cys) n.2663G>C n.2661G>C | |
14 | g.91313281C>T | CA390629845 | CCDC88C | c.2535G>A (p.Trp845Ter) c.2427G>A (p.Trp809Ter) n.2663G>A n.2661G>A | |
14 | g.91313282C>A | CA390629846 | CCDC88C | c.2534G>T (p.Trp845Leu) c.2426G>T (p.Trp809Leu) n.2662G>T n.2660G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313282C= | CA2154878583 | CCDC88C | c.2534G= (p.Trp845=) c.2426G= (p.Trp809=) n.2662G= n.2660G= | |
14 | g.91313282C>G | CA390629847 | CCDC88C | c.2534G>C (p.Trp845Ser) c.2426G>C (p.Trp809Ser) n.2662G>C n.2660G>C | |
14 | g.91313282C>T | CA390629848 | CCDC88C | c.2534G>A (p.Trp845Ter) c.2426G>A (p.Trp809Ter) n.2662G>A n.2660G>A | gnomAD v4 |
14 | g.91313283A= | CA2154878586 | CCDC88C | c.2533T= (p.Trp845=) c.2425T= (p.Trp809=) n.2661T= n.2659T= | |
14 | g.91313283A>C | CA390629849 | CCDC88C | c.2533T>G (p.Trp845Gly) c.2425T>G (p.Trp809Gly) n.2661T>G n.2659T>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313283A>G | CA390629850 | CCDC88C | c.2533T>C (p.Trp845Arg) c.2425T>C (p.Trp809Arg) n.2661T>C n.2659T>C | |
14 | g.91313283A>T | CA390629851 | CCDC88C | c.2533T>A (p.Trp845Arg) c.2425T>A (p.Trp809Arg) n.2661T>A n.2659T>A | |
14 | g.91313284C>A | CA487550550 | CCDC88C | c.2532G>T (p.Leu844=) c.2424G>T (p.Leu808=) n.2660G>T n.2658G>T | |
14 | g.91313284C= | CA2154878588 | CCDC88C | c.2532G= (p.Leu844=) c.2424G= (p.Leu808=) n.2660G= n.2658G= | |
14 | g.91313284C>G | CA487550551 | CCDC88C | c.2532G>C (p.Leu844=) c.2424G>C (p.Leu808=) n.2660G>C n.2658G>C | gnomAD v4 |
14 | g.91313284C>T | CA487550552 | CCDC88C | c.2532G>A (p.Leu844=) c.2424G>A (p.Leu808=) n.2660G>A n.2658G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313285A>C | CA390629852 | CCDC88C | c.2531T>G (p.Leu844Arg) c.2423T>G (p.Leu808Arg) n.2659T>G n.2657T>G | |
14 | g.91313285A>G | CA390629853 | CCDC88C | c.2531T>C (p.Leu844Pro) c.2423T>C (p.Leu808Pro) n.2659T>C n.2657T>C | gnomAD v4 |
14 | g.91313285A>T | CA390629854 | CCDC88C | c.2531T>A (p.Leu844Gln) c.2423T>A (p.Leu808Gln) n.2659T>A n.2657T>A | |
14 | g.91313286G>A | CA265569398 | CCDC88C | c.2530C>T (p.Leu844=) c.2422C>T (p.Leu808=) n.2658C>T n.2656C>T | dbSNP |
14 | g.91313286G>C | CA390629855 | CCDC88C | c.2530C>G (p.Leu844Val) c.2422C>G (p.Leu808Val) n.2658C>G n.2656C>G | |
14 | g.91313286G= | CA2154878592 | CCDC88C | c.2530C= (p.Leu844=) c.2422C= (p.Leu808=) n.2658C= n.2656C= | |
14 | g.91313286G>T | CA7309625 | CCDC88C | c.2530C>A (p.Leu844Met) c.2422C>A (p.Leu808Met) n.2658C>A n.2656C>A | dbSNP ExAC gnomAD v4 |
14 | g.91313287C>A | CA487550558 | CCDC88C | c.2529G>T (p.Arg843=) c.2421G>T (p.Arg807=) n.2657G>T n.2655G>T | gnomAD v4 |
14 | g.91313287C>G | CA487550559 | CCDC88C | c.2529G>C (p.Arg843=) c.2421G>C (p.Arg807=) n.2657G>C n.2655G>C | |
14 | g.91313287C>T | CA487550560 | CCDC88C | c.2529G>A (p.Arg843=) c.2421G>A (p.Arg807=) n.2657G>A n.2655G>A | COSMIC COSMIC |
14 | g.91313288C>A | CA390629856 | CCDC88C | c.2528G>T (p.Arg843Leu) c.2420G>T (p.Arg807Leu) n.2656G>T n.2654G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313288C= | CA2154878597 | CCDC88C | c.2528G= (p.Arg843=) c.2420G= (p.Arg807=) n.2656G= n.2654G= | |
14 | g.91313288C>G | CA390629857 | CCDC88C | c.2528G>C (p.Arg843Pro) c.2420G>C (p.Arg807Pro) n.2656G>C n.2654G>C | |
14 | g.91313288C>T | CA7309626 | CCDC88C | c.2528G>A (p.Arg843Gln) c.2420G>A (p.Arg807Gln) n.2656G>A n.2654G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313289G>A | CA7309627 | CCDC88C | c.2527C>T (p.Arg843Trp) c.2419C>T (p.Arg807Trp) n.2655C>T n.2653C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313289G>C | CA390629858 | CCDC88C | c.2527C>G (p.Arg843Gly) c.2419C>G (p.Arg807Gly) n.2655C>G n.2653C>G | |
14 | g.91313289G= | CA2154878604 | CCDC88C | c.2527C= (p.Arg843=) c.2419C= (p.Arg807=) n.2655C= n.2653C= | |
14 | g.91313289G>T | CA487550561 | CCDC88C | c.2527C>A (p.Arg843=) c.2419C>A (p.Arg807=) n.2655C>A n.2653C>A | gnomAD v4 |
14 | g.91313290C>A | CA390629859 | CCDC88C | c.2526G>T (p.Lys842Asn) c.2418G>T (p.Lys806Asn) n.2654G>T n.2652G>T | |
14 | g.91313290C= | CA2154878607 | CCDC88C | c.2526G= (p.Lys842=) c.2418G= (p.Lys806=) n.2654G= n.2652G= | |
14 | g.91313290C>G | CA390629860 | CCDC88C | c.2526G>C (p.Lys842Asn) c.2418G>C (p.Lys806Asn) n.2654G>C n.2652G>C | |
14 | g.91313290C>T | CA487550563 | CCDC88C | c.2526G>A (p.Lys842=) c.2418G>A (p.Lys806=) n.2654G>A n.2652G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313291T>A | CA390629861 | CCDC88C | c.2525A>T (p.Lys842Met) c.2417A>T (p.Lys806Met) n.2653A>T n.2651A>T | |
14 | g.91313291T>C | CA390629862 | CCDC88C | c.2525A>G (p.Lys842Arg) c.2417A>G (p.Lys806Arg) n.2653A>G n.2651A>G | gnomAD v4 |
14 | g.91313291T>G | CA390629863 | CCDC88C | c.2525A>C (p.Lys842Thr) c.2417A>C (p.Lys806Thr) n.2653A>C n.2651A>C | |
14 | g.91313292T>A | CA390629864 | CCDC88C | c.2524A>T (p.Lys842Ter) c.2416A>T (p.Lys806Ter) n.2652A>T n.2650A>T | |
14 | g.91313292T>C | CA390629865 | CCDC88C | c.2524A>G (p.Lys842Glu) c.2416A>G (p.Lys806Glu) n.2652A>G n.2650A>G | |
14 | g.91313292T>G | CA390629866 | CCDC88C | c.2524A>C (p.Lys842Gln) c.2416A>C (p.Lys806Gln) n.2652A>C n.2650A>C |