Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91313147_91313186delinsTCCAGCTCCTTCAGCTTGCCGGCTGCGTCCCTGCAGCGGG | CA2154878356 | CCDC88C | c.2630_2669delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA (p.Ala877=) c.2522_2561delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA (p.Ala841=) n.2758_2797delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA n.2756_2795delinsCCCGCTGCAGGGACGCAGCCGGCAAGCTGAAGGAGCTGGA | |
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.91313151G>A | CA487550373 | CCDC88C | c.2665C>T (p.Leu889=) c.2557C>T (p.Leu853=) n.2793C>T c.-127C>T (n.-127C>T) n.2791C>T | gnomAD v4 |
14 | g.91313151G>C | CA390629566 | CCDC88C | c.2665C>G (p.Leu889Val) c.2557C>G (p.Leu853Val) n.2793C>G c.-127C>G (n.-127C>G) n.2791C>G | |
14 | g.91313151G>T | CA390629567 | CCDC88C | c.2665C>A (p.Leu889Met) c.2557C>A (p.Leu853Met) n.2793C>A c.-127C>A (n.-127C>A) n.2791C>A | |
14 | g.91313152C>A | CA390629568 | CCDC88C | c.2664G>T (p.Glu888Asp) c.2556G>T (p.Glu852Asp) n.2792G>T c.-128G>T (n.-128G>T) n.2790G>T | |
14 | g.91313152C>G | CA390629569 | CCDC88C | c.2664G>C (p.Glu888Asp) c.2556G>C (p.Glu852Asp) n.2792G>C c.-128G>C (n.-128G>C) n.2790G>C | |
14 | g.91313152C>T | CA487550377 | CCDC88C | c.2664G>A (p.Glu888=) c.2556G>A (p.Glu852=) n.2792G>A c.-128G>A (n.-128G>A) n.2790G>A | |
14 | g.91313153T>A | CA390629572 | CCDC88C | c.2663A>T (p.Glu888Val) c.2555A>T (p.Glu852Val) n.2791A>T c.-129A>T (n.-129A>T) n.2789A>T | |
14 | g.91313153T>C | CA390629571 | CCDC88C | c.2663A>G (p.Glu888Gly) c.2555A>G (p.Glu852Gly) n.2791A>G c.-129A>G (n.-129A>G) n.2789A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313153T>G | CA390629570 | CCDC88C | c.2663A>C (p.Glu888Ala) c.2555A>C (p.Glu852Ala) n.2791A>C c.-129A>C (n.-129A>C) n.2789A>C | |
14 | g.91313153T= | CA2154878369 | CCDC88C | c.2663A= (p.Glu888=) c.2555A= (p.Glu852=) n.2791A= c.-129A= (n.-129A=) n.2789A= | |
14 | g.91313153_91313175delinsTCCTTCAGCTTGCCGGCTGCGTC | CA2154878368 | CCDC88C | c.2641_2663delinsGACGCAGCCGGCAAGCTGAAGGA (p.Asp881=) c.2533_2555delinsGACGCAGCCGGCAAGCTGAAGGA (p.Asp845=) n.2769_2791delinsGACGCAGCCGGCAAGCTGAAGGA n.2767_2789delinsGACGCAGCCGGCAAGCTGAAGGA | |
14 | g.91313154C>A | CA390629573 | CCDC88C | c.2662G>T (p.Glu888Ter) c.2554G>T (p.Glu852Ter) n.2790G>T c.-130G>T (n.-130G>T) n.2788G>T | |
14 | g.91313154C>G | CA390629574 | CCDC88C | c.2662G>C (p.Glu888Gln) c.2554G>C (p.Glu852Gln) n.2790G>C c.-130G>C (n.-130G>C) n.2788G>C | |
14 | g.91313154C>T | CA390629575 | CCDC88C | c.2662G>A (p.Glu888Lys) c.2554G>A (p.Glu852Lys) n.2790G>A c.-130G>A (n.-130G>A) n.2788G>A | |
14 | g.91313157_91313178del | CA616112439 | CCDC88C | c.2641_2662del (p.Asp881SerfsTer20) c.2533_2554del (p.Asp845SerfsTer20) n.2769_2790del n.2767_2788del | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313155C>A | CA390629576 | CCDC88C | c.2661G>T (p.Lys887Asn) c.2553G>T (p.Lys851Asn) n.2789G>T c.-131G>T (n.-131G>T) n.2787G>T | |
14 | g.91313155C>G | CA390629577 | CCDC88C | c.2661G>C (p.Lys887Asn) c.2553G>C (p.Lys851Asn) n.2789G>C c.-131G>C (n.-131G>C) n.2787G>C | |
14 | g.91313155C>T | CA487550381 | CCDC88C | c.2661G>A (p.Lys887=) c.2553G>A (p.Lys851=) n.2789G>A c.-131G>A (n.-131G>A) n.2787G>A | COSMIC COSMIC |
14 | g.91313156T>A | CA390629578 | CCDC88C | c.2660A>T (p.Lys887Met) c.2552A>T (p.Lys851Met) n.2788A>T c.-132A>T (n.-132A>T) n.2786A>T | |
14 | g.91313156T>C | CA390629579 | CCDC88C | c.2660A>G (p.Lys887Arg) c.2552A>G (p.Lys851Arg) n.2788A>G c.-132A>G (n.-132A>G) n.2786A>G | |
14 | g.91313156T>G | CA390629580 | CCDC88C | c.2660A>C (p.Lys887Thr) c.2552A>C (p.Lys851Thr) n.2788A>C c.-132A>C (n.-132A>C) n.2786A>C | |
14 | g.91313157T>A | CA390629581 | CCDC88C | c.2659A>T (p.Lys887Ter) c.2551A>T (p.Lys851Ter) n.2787A>T c.-133A>T (n.-133A>T) n.2785A>T | |
14 | g.91313157T>C | CA390629582 | CCDC88C | c.2659A>G (p.Lys887Glu) c.2551A>G (p.Lys851Glu) n.2787A>G c.-133A>G (n.-133A>G) n.2785A>G | gnomAD v4 |
14 | g.91313157T>G | CA390629583 | CCDC88C | c.2659A>C (p.Lys887Gln) c.2551A>C (p.Lys851Gln) n.2787A>C c.-133A>C (n.-133A>C) n.2785A>C | |
14 | g.91313158C>A | CA487550386 | CCDC88C | c.2658G>T (p.Leu886=) c.2550G>T (p.Leu850=) n.2786G>T c.-134G>T (n.-134G>T) n.2784G>T | gnomAD v4 |
14 | g.91313158C= | CA2154878373 | CCDC88C | c.2658G= (p.Leu886=) c.2550G= (p.Leu850=) n.2786G= c.-134G= (n.-134G=) n.2784G= | |
14 | g.91313158C>G | CA487550387 | CCDC88C | c.2658G>C (p.Leu886=) c.2550G>C (p.Leu850=) n.2786G>C c.-134G>C (n.-134G>C) n.2784G>C | |
14 | g.91313158C>T | CA487550388 | CCDC88C | c.2658G>A (p.Leu886=) c.2550G>A (p.Leu850=) n.2786G>A c.-134G>A (n.-134G>A) n.2784G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313159A= | CA2154878376 | CCDC88C | c.2657T= (p.Leu886=) c.2549T= (p.Leu850=) n.2785T= c.-135T= (n.-135T=) n.2783T= | |
14 | g.91313159A>C | CA390629586 | CCDC88C | c.2657T>G (p.Leu886Arg) c.2549T>G (p.Leu850Arg) n.2785T>G c.-135T>G (n.-135T>G) n.2783T>G | |
14 | g.91313159A>G | CA390629585 | CCDC88C | c.2657T>C (p.Leu886Pro) c.2549T>C (p.Leu850Pro) n.2785T>C c.-135T>C (n.-135T>C) n.2783T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313159A>T | CA390629584 | CCDC88C | c.2657T>A (p.Leu886Gln) c.2549T>A (p.Leu850Gln) n.2785T>A c.-135T>A (n.-135T>A) n.2783T>A | |
14 | g.91313160G>A | CA487550389 | CCDC88C | c.2656C>T (p.Leu886=) c.2548C>T (p.Leu850=) n.2784C>T c.-136C>T (n.-136C>T) n.2782C>T | |
14 | g.91313160G>C | CA390629587 | CCDC88C | c.2656C>G (p.Leu886Val) c.2548C>G (p.Leu850Val) n.2784C>G c.-136C>G (n.-136C>G) n.2782C>G | |
14 | g.91313160G>T | CA390629588 | CCDC88C | c.2656C>A (p.Leu886Met) c.2548C>A (p.Leu850Met) n.2784C>A c.-136C>A (n.-136C>A) n.2782C>A | |
14 | g.91313161C>A | CA390629589 | CCDC88C | c.2655G>T (p.Lys885Asn) c.2547G>T (p.Lys849Asn) n.2783G>T n.2781G>T | |
14 | g.91313161C= | CA2154878378 | CCDC88C | c.2655G= (p.Lys885=) c.2547G= (p.Lys849=) n.2783G= n.2781G= | |
14 | g.91313161C>G | CA390629590 | CCDC88C | c.2655G>C (p.Lys885Asn) c.2547G>C (p.Lys849Asn) n.2783G>C n.2781G>C | |
14 | g.91313161C>T | CA487550390 | CCDC88C | c.2655G>A (p.Lys885=) c.2547G>A (p.Lys849=) n.2783G>A n.2781G>A | dbSNP |
14 | g.91313162T>A | CA390629591 | CCDC88C | c.2654A>T (p.Lys885Met) c.2546A>T (p.Lys849Met) n.2782A>T n.2780A>T | |
14 | g.91313162T>C | CA390629592 | CCDC88C | c.2654A>G (p.Lys885Arg) c.2546A>G (p.Lys849Arg) n.2782A>G n.2780A>G | |
14 | g.91313162T>G | CA390629593 | CCDC88C | c.2654A>C (p.Lys885Thr) c.2546A>C (p.Lys849Thr) n.2782A>C n.2780A>C | |
14 | g.91313163T>A | CA390629594 | CCDC88C | c.2653A>T (p.Lys885Ter) c.2545A>T (p.Lys849Ter) n.2781A>T n.2779A>T | |
14 | g.91313163T>C | CA390629595 | CCDC88C | c.2653A>G (p.Lys885Glu) c.2545A>G (p.Lys849Glu) n.2781A>G n.2779A>G | |
14 | g.91313163T>G | CA390629596 | CCDC88C | c.2653A>C (p.Lys885Gln) c.2545A>C (p.Lys849Gln) n.2781A>C n.2779A>C | |
14 | g.91313164G>A | CA487550393 | CCDC88C | c.2652C>T (p.Gly884=) c.2544C>T (p.Gly848=) n.2780C>T n.2778C>T | gnomAD v4 |
14 | g.91313164G>C | CA487550396 | CCDC88C | c.2652C>G (p.Gly884=) c.2544C>G (p.Gly848=) n.2780C>G n.2778C>G | |
14 | g.91313164G>T | CA487550395 | CCDC88C | c.2652C>A (p.Gly884=) c.2544C>A (p.Gly848=) n.2780C>A n.2778C>A | ClinVar |
14 | g.91313165C>A | CA390629597 | CCDC88C | c.2651G>T (p.Gly884Val) c.2543G>T (p.Gly848Val) n.2779G>T n.2777G>T | |
14 | g.91313165C>G | CA390629598 | CCDC88C | c.2651G>C (p.Gly884Ala) c.2543G>C (p.Gly848Ala) n.2779G>C n.2777G>C | |
14 | g.91313165C>T | CA390629599 | CCDC88C | c.2651G>A (p.Gly884Asp) c.2543G>A (p.Gly848Asp) n.2779G>A n.2777G>A | |
14 | g.91313166C>A | CA390629600 | CCDC88C | c.2650G>T (p.Gly884Cys) c.2542G>T (p.Gly848Cys) n.2778G>T n.2776G>T | |
14 | g.91313166C= | CA2154878381 | CCDC88C | c.2650G= (p.Gly884=) c.2542G= (p.Gly848=) n.2778G= n.2776G= | |
14 | g.91313166C>G | CA390629601 | CCDC88C | c.2650G>C (p.Gly884Arg) c.2542G>C (p.Gly848Arg) n.2778G>C n.2776G>C | |
14 | g.91313166C>T | CA7309593 | CCDC88C | c.2650G>A (p.Gly884Ser) c.2542G>A (p.Gly848Ser) n.2778G>A n.2776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313167G>A | CA7309594 | CCDC88C | c.2649C>T (p.Ala883=) c.2541C>T (p.Ala847=) n.2777C>T n.2775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313167G>C | CA487550399 | CCDC88C | c.2649C>G (p.Ala883=) c.2541C>G (p.Ala847=) n.2777C>G n.2775C>G | |
14 | g.91313167G= | CA2154878383 | CCDC88C | c.2649C= (p.Ala883=) c.2541C= (p.Ala847=) n.2777C= n.2775C= | |
14 | g.91313167G>T | CA487550400 | CCDC88C | c.2649C>A (p.Ala883=) c.2541C>A (p.Ala847=) n.2777C>A n.2775C>A | gnomAD v4 |
14 | g.91313168G>A | CA390629602 | CCDC88C | c.2648C>T (p.Ala883Val) c.2540C>T (p.Ala847Val) n.2776C>T n.2774C>T | |
14 | g.91313168G>C | CA390629603 | CCDC88C | c.2648C>G (p.Ala883Gly) c.2540C>G (p.Ala847Gly) n.2776C>G n.2774C>G | |
14 | g.91313168G>T | CA390629604 | CCDC88C | c.2648C>A (p.Ala883Asp) c.2540C>A (p.Ala847Asp) n.2776C>A n.2774C>A | |
14 | g.91313169C>A | CA390629605 | CCDC88C | c.2647G>T (p.Ala883Ser) c.2539G>T (p.Ala847Ser) n.2775G>T n.2773G>T | |
14 | g.91313169C>G | CA390629606 | CCDC88C | c.2647G>C (p.Ala883Pro) c.2539G>C (p.Ala847Pro) n.2775G>C n.2773G>C | |
14 | g.91313169C>T | CA390629607 | CCDC88C | c.2647G>A (p.Ala883Thr) c.2539G>A (p.Ala847Thr) n.2775G>A n.2773G>A | gnomAD v4 |
14 | g.91313169_91313170delinsCT | CA2154878386 | CCDC88C | c.2646_2647delinsAG (p.Ala882=) c.2538_2539delinsAG (p.Ala846=) n.2774_2775delinsAG n.2772_2773delinsAG | |
14 | g.91313170del | CA2154878390 | CCDC88C | c.2646del (p.Ala883ProfsTer4) c.2538del (p.Ala847ProfsTer4) n.2774del n.2772del | dbSNP |
14 | g.91313170T>A | CA487550402 | CCDC88C | c.2646A>T (p.Ala882=) c.2538A>T (p.Ala846=) n.2774A>T n.2772A>T | |
14 | g.91313170T>C | CA487550403 | CCDC88C | c.2646A>G (p.Ala882=) c.2538A>G (p.Ala846=) n.2774A>G n.2772A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313170T>G | CA487550404 | CCDC88C | c.2646A>C (p.Ala882=) c.2538A>C (p.Ala846=) n.2774A>C n.2772A>C | |
14 | g.91313170T= | CA2154878388 | CCDC88C | c.2646A= (p.Ala882=) c.2538A= (p.Ala846=) n.2774A= n.2772A= | |
14 | g.91313171G>A | CA390629608 | CCDC88C | c.2645C>T (p.Ala882Val) c.2537C>T (p.Ala846Val) n.2773C>T n.2771C>T | gnomAD v4 |
14 | g.91313171G>C | CA390629609 | CCDC88C | c.2645C>G (p.Ala882Gly) c.2537C>G (p.Ala846Gly) n.2773C>G n.2771C>G | |
14 | g.91313171G>T | CA390629610 | CCDC88C | c.2645C>A (p.Ala882Glu) c.2537C>A (p.Ala846Glu) n.2773C>A n.2771C>A | |
14 | g.91313172_91313173dup | CA616112440 | CCDC88C | c.2644_2645dup (p.Ala883GlnfsTer5) c.2536_2537dup (p.Ala847GlnfsTer5) n.2772_2773dup n.2770_2771dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313172C>A | CA390629611 | CCDC88C | c.2644G>T (p.Ala882Ser) c.2536G>T (p.Ala846Ser) n.2772G>T n.2770G>T | |
14 | g.91313172C= | CA2154878397 | CCDC88C | c.2644G= (p.Ala882=) c.2536G= (p.Ala846=) n.2772G= n.2770G= | |
14 | g.91313172C>G | CA390629612 | CCDC88C | c.2644G>C (p.Ala882Pro) c.2536G>C (p.Ala846Pro) n.2772G>C n.2770G>C | |
14 | g.91313172C>T | CA7309595 | CCDC88C | c.2644G>A (p.Ala882Thr) c.2536G>A (p.Ala846Thr) n.2772G>A n.2770G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313173G>A | CA7309596 | CCDC88C | c.2643C>T (p.Asp881=) c.2535C>T (p.Asp845=) n.2771C>T n.2769C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313173G>C | CA390629614 | CCDC88C | c.2643C>G (p.Asp881Glu) c.2535C>G (p.Asp845Glu) n.2771C>G n.2769C>G | |
14 | g.91313173G= | CA2154878399 | CCDC88C | c.2643C= (p.Asp881=) c.2535C= (p.Asp845=) n.2771C= n.2769C= | |
14 | g.91313173G>T | CA390629613 | CCDC88C | c.2643C>A (p.Asp881Glu) c.2535C>A (p.Asp845Glu) n.2771C>A n.2769C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313174T>A | CA390629615 | CCDC88C | c.2642A>T (p.Asp881Val) c.2534A>T (p.Asp845Val) n.2770A>T n.2768A>T | |
14 | g.91313174T>C | CA390629616 | CCDC88C | c.2642A>G (p.Asp881Gly) c.2534A>G (p.Asp845Gly) n.2770A>G n.2768A>G | |
14 | g.91313174T>G | CA390629617 | CCDC88C | c.2642A>C (p.Asp881Ala) c.2534A>C (p.Asp845Ala) n.2770A>C n.2768A>C | |
14 | g.91313175C>A | CA390629618 | CCDC88C | c.2641G>T (p.Asp881Tyr) c.2533G>T (p.Asp845Tyr) n.2769G>T n.2767G>T | |
14 | g.91313175C>G | CA390629619 | CCDC88C | c.2641G>C (p.Asp881His) c.2533G>C (p.Asp845His) n.2769G>C n.2767G>C | |
14 | g.91313175C>T | CA390629620 | CCDC88C | c.2641G>A (p.Asp881Asn) c.2533G>A (p.Asp845Asn) n.2769G>A n.2767G>A | |
14 | g.91313176C>A | CA390629621 | CCDC88C | c.2640G>T (p.Arg880Ser) c.2532G>T (p.Arg844Ser) n.2768G>T n.2766G>T | |
14 | g.91313176C= | CA2154878408 | CCDC88C | c.2640G= (p.Arg880=) c.2532G= (p.Arg844=) n.2768G= n.2766G= | |
14 | g.91313176C>G | CA390629622 | CCDC88C | c.2640G>C (p.Arg880Ser) c.2532G>C (p.Arg844Ser) n.2768G>C n.2766G>C | |
14 | g.91313176C>T | CA7309597 | CCDC88C | c.2640G>A (p.Arg880=) c.2532G>A (p.Arg844=) n.2768G>A n.2766G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313177C>A | CA390629623 | CCDC88C | c.2639G>T (p.Arg880Met) c.2531G>T (p.Arg844Met) n.2767G>T n.2765G>T | |
14 | g.91313177C= | CA2154878413 | CCDC88C | c.2639G= (p.Arg880=) c.2531G= (p.Arg844=) n.2767G= n.2765G= | |
14 | g.91313177C>G | CA390629624 | CCDC88C | c.2639G>C (p.Arg880Thr) c.2531G>C (p.Arg844Thr) n.2767G>C n.2765G>C | |
14 | g.91313177C>T | CA390629625 | CCDC88C | c.2639G>A (p.Arg880Lys) c.2531G>A (p.Arg844Lys) n.2767G>A n.2765G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313178T>A | CA390629626 | CCDC88C | c.2638A>T (p.Arg880Trp) c.2530A>T (p.Arg844Trp) n.2766A>T n.2764A>T | |
14 | g.91313178T>C | CA390629627 | CCDC88C | c.2638A>G (p.Arg880Gly) c.2530A>G (p.Arg844Gly) n.2766A>G n.2764A>G | |
14 | g.91313178T>G | CA487550411 | CCDC88C | c.2638A>C (p.Arg880=) c.2530A>C (p.Arg844=) n.2766A>C n.2764A>C | |
14 | g.91313179G>A | CA487550412 | CCDC88C | c.2637C>T (p.Cys879=) c.2529C>T (p.Cys843=) n.2765C>T n.2763C>T | |
14 | g.91313179G>C | CA390629628 | CCDC88C | c.2637C>G (p.Cys879Trp) c.2529C>G (p.Cys843Trp) n.2765C>G n.2763C>G | |
14 | g.91313179G>T | CA390629629 | CCDC88C | c.2637C>A (p.Cys879Ter) c.2529C>A (p.Cys843Ter) n.2765C>A n.2763C>A | |
14 | g.91313180C>A | CA390629630 | CCDC88C | c.2636G>T (p.Cys879Phe) c.2528G>T (p.Cys843Phe) n.2764G>T n.2762G>T | |
14 | g.91313180C= | CA2154878419 | CCDC88C | c.2636G= (p.Cys879=) c.2528G= (p.Cys843=) n.2764G= n.2762G= | |
14 | g.91313180C>G | CA390629631 | CCDC88C | c.2636G>C (p.Cys879Ser) c.2528G>C (p.Cys843Ser) n.2764G>C n.2762G>C | |
14 | g.91313180C>T | CA390629632 | CCDC88C | c.2636G>A (p.Cys879Tyr) c.2528G>A (p.Cys843Tyr) n.2764G>A n.2762G>A | dbSNP |
14 | g.91313181A= | CA2154878421 | CCDC88C | c.2635T= (p.Cys879=) c.2527T= (p.Cys843=) n.2763T= n.2761T= | |
14 | g.91313181A>C | CA390629633 | CCDC88C | c.2635T>G (p.Cys879Gly) c.2527T>G (p.Cys843Gly) n.2763T>G n.2761T>G | gnomAD v4 |
14 | g.91313181A>G | CA7309598 | CCDC88C | c.2635T>C (p.Cys879Arg) c.2527T>C (p.Cys843Arg) n.2763T>C n.2761T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313181A>T | CA390629634 | CCDC88C | c.2635T>A (p.Cys879Ser) c.2527T>A (p.Cys843Ser) n.2763T>A n.2761T>A | |
14 | g.91313182G>A | CA487550419 | CCDC88C | c.2634C>T (p.Arg878=) c.2526C>T (p.Arg842=) n.2762C>T n.2760C>T | |
14 | g.91313182G>C | CA487550420 | CCDC88C | c.2634C>G (p.Arg878=) c.2526C>G (p.Arg842=) n.2762C>G n.2760C>G | |
14 | g.91313182G>T | CA487550421 | CCDC88C | c.2634C>A (p.Arg878=) c.2526C>A (p.Arg842=) n.2762C>A n.2760C>A | |
14 | g.91313183C>A | CA390629636 | CCDC88C | c.2633G>T (p.Arg878Leu) c.2525G>T (p.Arg842Leu) n.2761G>T n.2759G>T | |
14 | g.91313183C= | CA2154878423 | CCDC88C | c.2633G= (p.Arg878=) c.2525G= (p.Arg842=) n.2761G= n.2759G= | |
14 | g.91313183C>G | CA390629635 | CCDC88C | c.2633G>C (p.Arg878Pro) c.2525G>C (p.Arg842Pro) n.2761G>C n.2759G>C | |
14 | g.91313183C>T | CA7309599 | CCDC88C | c.2633G>A (p.Arg878His) c.2525G>A (p.Arg842His) n.2761G>A n.2759G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313184G>A | CA7309600 | CCDC88C | c.2632C>T (p.Arg878Cys) c.2524C>T (p.Arg842Cys) n.2760C>T n.2758C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313184G>C | CA390629637 | CCDC88C | c.2632C>G (p.Arg878Gly) c.2524C>G (p.Arg842Gly) n.2760C>G n.2758C>G | gnomAD v4 |
14 | g.91313184G= | CA2154878425 | CCDC88C | c.2632C= (p.Arg878=) c.2524C= (p.Arg842=) n.2760C= n.2758C= | |
14 | g.91313184G>T | CA390629638 | CCDC88C | c.2632C>A (p.Arg878Ser) c.2524C>A (p.Arg842Ser) n.2760C>A n.2758C>A | |
14 | g.91313185G>A | CA487550424 | CCDC88C | c.2631C>T (p.Ala877=) c.2523C>T (p.Ala841=) n.2759C>T n.2757C>T | |
14 | g.91313185G>C | CA487550425 | CCDC88C | c.2631C>G (p.Ala877=) c.2523C>G (p.Ala841=) n.2759C>G n.2757C>G | |
14 | g.91313185G>T | CA487550426 | CCDC88C | c.2631C>A (p.Ala877=) c.2523C>A (p.Ala841=) n.2759C>A n.2757C>A | |
14 | g.91313186G>A | CA390629639 | CCDC88C | c.2630C>T (p.Ala877Val) c.2522C>T (p.Ala841Val) n.2758C>T n.2756C>T | |
14 | g.91313186G>C | CA390629640 | CCDC88C | c.2630C>G (p.Ala877Gly) c.2522C>G (p.Ala841Gly) n.2758C>G n.2756C>G | |
14 | g.91313186G>T | CA390629641 | CCDC88C | c.2630C>A (p.Ala877Asp) c.2522C>A (p.Ala841Asp) n.2758C>A n.2756C>A | |
14 | g.91313187C>A | CA390629642 | CCDC88C | c.2629G>T (p.Ala877Ser) c.2521G>T (p.Ala841Ser) n.2757G>T n.2755G>T | |
14 | g.91313187C>G | CA390629644 | CCDC88C | c.2629G>C (p.Ala877Pro) c.2521G>C (p.Ala841Pro) n.2757G>C n.2755G>C | |
14 | g.91313187C>T | CA390629643 | CCDC88C | c.2629G>A (p.Ala877Thr) c.2521G>A (p.Ala841Thr) n.2757G>A n.2755G>A | ClinVar |
14 | g.91313188C>A | CA487550430 | CCDC88C | c.2628G>T (p.Leu876=) c.2520G>T (p.Leu840=) n.2756G>T n.2754G>T | |
14 | g.91313188C>G | CA487550431 | CCDC88C | c.2628G>C (p.Leu876=) c.2520G>C (p.Leu840=) n.2756G>C n.2754G>C | |
14 | g.91313188C>T | CA487550433 | CCDC88C | c.2628G>A (p.Leu876=) c.2520G>A (p.Leu840=) n.2756G>A n.2754G>A | gnomAD v4 |
14 | g.91313189A>C | CA390629645 | CCDC88C | c.2627T>G (p.Leu876Arg) c.2519T>G (p.Leu840Arg) n.2755T>G n.2753T>G | |
14 | g.91313189A>G | CA390629646 | CCDC88C | c.2627T>C (p.Leu876Pro) c.2519T>C (p.Leu840Pro) n.2755T>C n.2753T>C | dbSNP |
14 | g.91313189A>T | CA390629647 | CCDC88C | c.2627T>A (p.Leu876Gln) c.2519T>A (p.Leu840Gln) n.2755T>A n.2753T>A | |
14 | g.91313190G>A | CA7309601 | CCDC88C | c.2626C>T (p.Leu876=) c.2518C>T (p.Leu840=) n.2754C>T n.2752C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313190G>C | CA390629648 | CCDC88C | c.2626C>G (p.Leu876Val) c.2518C>G (p.Leu840Val) n.2754C>G n.2752C>G | gnomAD v4 |
14 | g.91313190G= | CA2154878427 | CCDC88C | c.2626C= (p.Leu876=) c.2518C= (p.Leu840=) n.2754C= n.2752C= | |
14 | g.91313190G>T | CA390629649 | CCDC88C | c.2626C>A (p.Leu876Met) c.2518C>A (p.Leu840Met) n.2754C>A n.2752C>A | |
14 | g.91313191C>A | CA390629650 | CCDC88C | c.2625G>T (p.Glu875Asp) c.2517G>T (p.Glu839Asp) n.2753G>T n.2751G>T | |
14 | g.91313191C>G | CA390629651 | CCDC88C | c.2625G>C (p.Glu875Asp) c.2517G>C (p.Glu839Asp) n.2753G>C n.2751G>C | |
14 | g.91313191C>T | CA487550436 | CCDC88C | c.2625G>A (p.Glu875=) c.2517G>A (p.Glu839=) n.2753G>A n.2751G>A | |
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 |