Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91313241_91313282delinsTGCTATCGTCCAAGACTGCATCCTTGAGCTCCACCTGCTGCC | CA2154878511 | CCDC88C | c.2534_2575delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA (p.Trp845=) c.2426_2467delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA (p.Trp809=) n.2662_2703delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA n.2660_2701delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA | |
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.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 | |
14 | g.91313293G>A | CA487550565 | CCDC88C | c.2523C>T (p.Ala841=) c.2415C>T (p.Ala805=) n.2651C>T n.2649C>T | |
14 | g.91313293G>C | CA487550566 | CCDC88C | c.2523C>G (p.Ala841=) c.2415C>G (p.Ala805=) n.2651C>G n.2649C>G | |
14 | g.91313293G>T | CA487550567 | CCDC88C | c.2523C>A (p.Ala841=) c.2415C>A (p.Ala805=) n.2651C>A n.2649C>A | |
14 | g.91313294G>A | CA7309628 | CCDC88C | c.2522C>T (p.Ala841Val) c.2414C>T (p.Ala805Val) n.2650C>T n.2648C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313294G>C | CA390629868 | CCDC88C | c.2522C>G (p.Ala841Gly) c.2414C>G (p.Ala805Gly) n.2650C>G n.2648C>G | |
14 | g.91313294G= | CA2154878611 | CCDC88C | c.2522C= (p.Ala841=) c.2414C= (p.Ala805=) n.2650C= n.2648C= | |
14 | g.91313294G>T | CA390629867 | CCDC88C | c.2522C>A (p.Ala841Asp) c.2414C>A (p.Ala805Asp) n.2650C>A n.2648C>A | |
14 | g.91313295C>A | CA390629869 | CCDC88C | c.2521G>T (p.Ala841Ser) c.2413G>T (p.Ala805Ser) n.2649G>T n.2647G>T | |
14 | g.91313295C= | CA2154878613 | CCDC88C | c.2521G= (p.Ala841=) c.2413G= (p.Ala805=) n.2649G= n.2647G= | |
14 | g.91313295C>G | CA390629870 | CCDC88C | c.2521G>C (p.Ala841Pro) c.2413G>C (p.Ala805Pro) n.2649G>C n.2647G>C | |
14 | g.91313295C>T | CA390629871 | CCDC88C | c.2521G>A (p.Ala841Thr) c.2413G>A (p.Ala805Thr) n.2649G>A n.2647G>A | dbSNP gnomAD v4 |
14 | g.91313296C>A | CA390629872 | CCDC88C | c.2520G>T (p.Glu840Asp) c.2412G>T (p.Glu804Asp) n.2648G>T n.2646G>T | |
14 | g.91313296C= | CA2154878615 | CCDC88C | c.2520G= (p.Glu840=) c.2412G= (p.Glu804=) n.2648G= n.2646G= | |
14 | g.91313296C>G | CA390629873 | CCDC88C | c.2520G>C (p.Glu840Asp) c.2412G>C (p.Glu804Asp) n.2648G>C n.2646G>C | dbSNP gnomAD v4 |
14 | g.91313296C>T | CA487550571 | CCDC88C | c.2520G>A (p.Glu840=) c.2412G>A (p.Glu804=) n.2648G>A n.2646G>A | dbSNP |
14 | g.91313297T>A | CA390629874 | CCDC88C | c.2519A>T (p.Glu840Val) c.2411A>T (p.Glu804Val) n.2647A>T n.2645A>T | |
14 | g.91313297T>C | CA390629875 | CCDC88C | c.2519A>G (p.Glu840Gly) c.2411A>G (p.Glu804Gly) n.2647A>G n.2645A>G | |
14 | g.91313297T>G | CA7309629 | CCDC88C | c.2519A>C (p.Glu840Ala) c.2411A>C (p.Glu804Ala) n.2647A>C n.2645A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313297T= | CA2154878617 | CCDC88C | c.2519A= (p.Glu840=) c.2411A= (p.Glu804=) n.2647A= n.2645A= | |
14 | g.91313298C>A | CA390629876 | CCDC88C | c.2518G>T (p.Glu840Ter) c.2410G>T (p.Glu804Ter) n.2646G>T n.2644G>T | |
14 | g.91313298C>G | CA390629877 | CCDC88C | c.2518G>C (p.Glu840Gln) c.2410G>C (p.Glu804Gln) n.2646G>C n.2644G>C | |
14 | g.91313298C>T | CA390629878 | CCDC88C | c.2518G>A (p.Glu840Lys) c.2410G>A (p.Glu804Lys) n.2646G>A n.2644G>A | |
14 | g.91313299C>A | CA390629879 | CCDC88C | c.2517G>T (p.Lys839Asn) c.2409G>T (p.Lys803Asn) n.2645G>T n.2643G>T | |
14 | g.91313299C= | CA2154878621 | CCDC88C | c.2517G= (p.Lys839=) c.2409G= (p.Lys803=) n.2645G= n.2643G= | |
14 | g.91313299C>G | CA390629880 | CCDC88C | c.2517G>C (p.Lys839Asn) c.2409G>C (p.Lys803Asn) n.2645G>C n.2643G>C | |
14 | g.91313299C>T | CA487550575 | CCDC88C | c.2517G>A (p.Lys839=) c.2409G>A (p.Lys803=) n.2645G>A n.2643G>A | dbSNP gnomAD v2 COSMIC COSMIC |
14 | g.91313301_91313303del | CA2626130637 | CCDC88C | c.2515_2517del (p.Lys839del) c.2407_2409del (p.Lys803del) n.2643_2645del n.2641_2643del | gnomAD v4 |
14 | g.91313300T>A | CA390629881 | CCDC88C | c.2516A>T (p.Lys839Met) c.2408A>T (p.Lys803Met) n.2644A>T n.2642A>T | |
14 | g.91313300T>C | CA390629882 | CCDC88C | c.2516A>G (p.Lys839Arg) c.2408A>G (p.Lys803Arg) n.2644A>G n.2642A>G | |
14 | g.91313300T>G | CA390629883 | CCDC88C | c.2516A>C (p.Lys839Thr) c.2408A>C (p.Lys803Thr) n.2644A>C n.2642A>C | |
14 | g.91313301T>A | CA390629884 | CCDC88C | c.2515A>T (p.Lys839Ter) c.2407A>T (p.Lys803Ter) n.2643A>T n.2641A>T | |
14 | g.91313301T>C | CA7309630 | CCDC88C | c.2515A>G (p.Lys839Glu) c.2407A>G (p.Lys803Glu) n.2643A>G n.2641A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313301T>G | CA390629885 | CCDC88C | c.2515A>C (p.Lys839Gln) c.2407A>C (p.Lys803Gln) n.2643A>C n.2641A>C | |
14 | g.91313301T= | CA2154878624 | CCDC88C | c.2515A= (p.Lys839=) c.2407A= (p.Lys803=) n.2643A= n.2641A= | |
14 | g.91313302C>A | CA390629887 | CCDC88C | c.2514G>T (p.Glu838Asp) c.2406G>T (p.Glu802Asp) n.2642G>T n.2640G>T | |
14 | g.91313302C>G | CA390629886 | CCDC88C | c.2514G>C (p.Glu838Asp) c.2406G>C (p.Glu802Asp) n.2642G>C n.2640G>C | |
14 | g.91313302C>T | CA487550576 | CCDC88C | c.2514G>A (p.Glu838=) c.2406G>A (p.Glu802=) n.2642G>A n.2640G>A | gnomAD v4 |
14 | g.91313303T>A | CA390629888 | CCDC88C | c.2513A>T (p.Glu838Val) c.2405A>T (p.Glu802Val) n.2641A>T n.2639A>T | |
14 | g.91313303T>C | CA390629889 | CCDC88C | c.2513A>G (p.Glu838Gly) c.2405A>G (p.Glu802Gly) n.2641A>G n.2639A>G | |
14 | g.91313303T>G | CA390629890 | CCDC88C | c.2513A>C (p.Glu838Ala) c.2405A>C (p.Glu802Ala) n.2641A>C n.2639A>C | |
14 | g.91313304C>A | CA390629891 | CCDC88C | c.2512G>T (p.Glu838Ter) c.2404G>T (p.Glu802Ter) n.2640G>T n.2638G>T | |
14 | g.91313304C>G | CA390629892 | CCDC88C | c.2512G>C (p.Glu838Gln) c.2404G>C (p.Glu802Gln) n.2640G>C n.2638G>C | |
14 | g.91313304C>T | CA390629893 | CCDC88C | c.2512G>A (p.Glu838Lys) c.2404G>A (p.Glu802Lys) n.2640G>A n.2638G>A | COSMIC COSMIC |
14 | g.91313305C>A | CA487550578 | CCDC88C | c.2511G>T (p.Leu837=) c.2403G>T (p.Leu801=) n.2639G>T n.2637G>T | |
14 | g.91313305C= | CA2154878627 | CCDC88C | c.2511G= (p.Leu837=) c.2403G= (p.Leu801=) n.2639G= n.2637G= | |
14 | g.91313305C>G | CA487550579 | CCDC88C | c.2511G>C (p.Leu837=) c.2403G>C (p.Leu801=) n.2639G>C n.2637G>C | |
14 | g.91313305C>T | CA487550580 | CCDC88C | c.2511G>A (p.Leu837=) c.2403G>A (p.Leu801=) n.2639G>A n.2637G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313306A>C | CA390629894 | CCDC88C | c.2510T>G (p.Leu837Arg) c.2402T>G (p.Leu801Arg) n.2638T>G n.2636T>G | |
14 | g.91313306A>G | CA390629896 | CCDC88C | c.2510T>C (p.Leu837Pro) c.2402T>C (p.Leu801Pro) n.2638T>C n.2636T>C | gnomAD v4 |
14 | g.91313306A>T | CA390629895 | CCDC88C | c.2510T>A (p.Leu837Gln) c.2402T>A (p.Leu801Gln) n.2638T>A n.2636T>A | |
14 | g.91313309_91313329dup | CA7309631 | CCDC88C | c.2490_2510dup (p.Leu837_Glu838insGluLysAspLysLysLeuLeu) c.2382_2402dup (p.Leu801_Glu802insGluLysAspLysLysLeuLeu) n.2618_2638dup n.2616_2636dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313307G>A | CA487829480 | CCDC88C | c.2509C>T (p.Leu837=) c.2401C>T (p.Leu801=) n.2637C>T n.2635C>T | |
14 | g.91313307G>C | CA390629897 | CCDC88C | c.2509C>G (p.Leu837Val) c.2401C>G (p.Leu801Val) n.2637C>G n.2635C>G | |
14 | g.91313307G= | CA2154878635 | CCDC88C | c.2509C= (p.Leu837=) c.2401C= (p.Leu801=) n.2637C= n.2635C= | |
14 | g.91313307G>T | CA390629898 | CCDC88C | c.2509C>A (p.Leu837Met) c.2401C>A (p.Leu801Met) n.2637C>A n.2635C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313308del | CA2626130641 | CCDC88C | c.2508del (p.Leu837TrpfsTer?) c.2400del (p.Leu801TrpfsTer?) n.2636del n.2634del | gnomAD v4 |
14 | g.91313308C>A | CA487829482 | CCDC88C | c.2508G>T (p.Leu836=) c.2400G>T (p.Leu800=) n.2636G>T n.2634G>T | |
14 | g.91313308C>G | CA487829483 | CCDC88C | c.2508G>C (p.Leu836=) c.2400G>C (p.Leu800=) n.2636G>C n.2634G>C | |
14 | g.91313308C>T | CA487829484 | CCDC88C | c.2508G>A (p.Leu836=) c.2400G>A (p.Leu800=) n.2636G>A n.2634G>A | |
14 | g.91313309A>C | CA390629899 | CCDC88C | c.2507T>G (p.Leu836Arg) c.2399T>G (p.Leu800Arg) n.2635T>G n.2633T>G | |
14 | g.91313309A>G | CA390629900 | CCDC88C | c.2507T>C (p.Leu836Pro) c.2399T>C (p.Leu800Pro) n.2635T>C n.2633T>C | gnomAD v4 |
14 | g.91313309A>T | CA390629901 | CCDC88C | c.2507T>A (p.Leu836Gln) c.2399T>A (p.Leu800Gln) n.2635T>A n.2633T>A | |
14 | g.91313310G>A | CA487829486 | CCDC88C | c.2506C>T (p.Leu836=) c.2398C>T (p.Leu800=) n.2634C>T n.2632C>T | |
14 | g.91313310G>C | CA390629902 | CCDC88C | c.2506C>G (p.Leu836Val) c.2398C>G (p.Leu800Val) n.2634C>G n.2632C>G | |
14 | g.91313310G>T | CA390629903 | CCDC88C | c.2506C>A (p.Leu836Met) c.2398C>A (p.Leu800Met) n.2634C>A n.2632C>A | |
14 | g.91313311C>A | CA390629904 | CCDC88C | c.2505G>T (p.Lys835Asn) c.2397G>T (p.Lys799Asn) n.2633G>T n.2631G>T | |
14 | g.91313311C= | CA2154878636 | CCDC88C | c.2505G= (p.Lys835=) c.2397G= (p.Lys799=) n.2633G= n.2631G= | |
14 | g.91313311C>G | CA7309632 | CCDC88C | c.2505G>C (p.Lys835Asn) c.2397G>C (p.Lys799Asn) n.2633G>C n.2631G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313311C>T | CA487829487 | CCDC88C | c.2505G>A (p.Lys835=) c.2397G>A (p.Lys799=) n.2633G>A n.2631G>A | gnomAD v4 |
14 | g.91313312T>A | CA390629905 | CCDC88C | c.2504A>T (p.Lys835Met) c.2396A>T (p.Lys799Met) n.2632A>T n.2630A>T | gnomAD v4 |
14 | g.91313312T>C | CA390629906 | CCDC88C | c.2504A>G (p.Lys835Arg) c.2396A>G (p.Lys799Arg) n.2632A>G n.2630A>G | |
14 | g.91313312T>G | CA390629907 | CCDC88C | c.2504A>C (p.Lys835Thr) c.2396A>C (p.Lys799Thr) n.2632A>C n.2630A>C | |
14 | g.91313312_91313313del | CA2626130643 | CCDC88C | c.2503_2504del (p.Lys835AlafsTer23) c.2395_2396del (p.Lys799AlafsTer23) n.2631_2632del n.2629_2630del | gnomAD v4 |
14 | g.91313313T>A | CA390629909 | CCDC88C | c.2503A>T (p.Lys835Ter) c.2395A>T (p.Lys799Ter) n.2631A>T n.2629A>T | |
14 | g.91313313T>C | CA390629908 | CCDC88C | c.2503A>G (p.Lys835Glu) c.2395A>G (p.Lys799Glu) n.2631A>G n.2629A>G | |
14 | g.91313313T>G | CA7309633 | CCDC88C | c.2503A>C (p.Lys835Gln) c.2395A>C (p.Lys799Gln) n.2631A>C n.2629A>C | dbSNP ExAC gnomAD v2 |
14 | g.91313313T= | CA2154878640 | CCDC88C | c.2503A= (p.Lys835=) c.2395A= (p.Lys799=) n.2631A= n.2629A= | |
14 | g.91313314C>A | CA7309634 | CCDC88C | c.2502G>T (p.Lys834Asn) c.2394G>T (p.Lys798Asn) n.2630G>T n.2628G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313314C= | CA2154878643 | CCDC88C | c.2502G= (p.Lys834=) c.2394G= (p.Lys798=) n.2630G= n.2628G= | |
14 | g.91313314C>G | CA390629910 | CCDC88C | c.2502G>C (p.Lys834Asn) c.2394G>C (p.Lys798Asn) n.2630G>C n.2628G>C | |
14 | g.91313314C>T | CA487829488 | CCDC88C | c.2502G>A (p.Lys834=) c.2394G>A (p.Lys798=) n.2630G>A n.2628G>A | |
14 | g.91313315T>A | CA390629911 | CCDC88C | c.2501A>T (p.Lys834Met) c.2393A>T (p.Lys798Met) n.2629A>T n.2627A>T | |
14 | g.91313315T>C | CA390629912 | CCDC88C | c.2501A>G (p.Lys834Arg) c.2393A>G (p.Lys798Arg) n.2629A>G n.2627A>G | |
14 | g.91313315T>G | CA390629913 | CCDC88C | c.2501A>C (p.Lys834Thr) c.2393A>C (p.Lys798Thr) n.2629A>C n.2627A>C | |
14 | g.91313316T>A | CA390629914 | CCDC88C | c.2500A>T (p.Lys834Ter) c.2392A>T (p.Lys798Ter) n.2628A>T n.2626A>T | |
14 | g.91313316T>C | CA390629915 | CCDC88C | c.2500A>G (p.Lys834Glu) c.2392A>G (p.Lys798Glu) n.2628A>G n.2626A>G | dbSNP |
14 | g.91313316T>G | CA390629916 | CCDC88C | c.2500A>C (p.Lys834Gln) c.2392A>C (p.Lys798Gln) n.2628A>C n.2626A>C | |
14 | g.91313316T= | CA2154878647 | CCDC88C | c.2500A= (p.Lys834=) c.2392A= (p.Lys798=) n.2628A= n.2626A= | |
14 | g.91313317A>C | CA390629917 | CCDC88C | c.2499T>G (p.Asp833Glu) c.2391T>G (p.Asp797Glu) n.2627T>G n.2625T>G | |
14 | g.91313317A>G | CA487829490 | CCDC88C | c.2499T>C (p.Asp833=) c.2391T>C (p.Asp797=) n.2627T>C n.2625T>C | |
14 | g.91313317A>T | CA390629918 | CCDC88C | c.2499T>A (p.Asp833Glu) c.2391T>A (p.Asp797Glu) n.2627T>A n.2625T>A | |
14 | g.91313318T>A | CA390629919 | CCDC88C | c.2498A>T (p.Asp833Val) c.2390A>T (p.Asp797Val) n.2626A>T n.2624A>T | |
14 | g.91313318T>C | CA390629920 | CCDC88C | c.2498A>G (p.Asp833Gly) c.2390A>G (p.Asp797Gly) n.2626A>G n.2624A>G | gnomAD v4 |
14 | g.91313318T>G | CA390629921 | CCDC88C | c.2498A>C (p.Asp833Ala) c.2390A>C (p.Asp797Ala) n.2626A>C n.2624A>C | |
14 | g.91313319C>A | CA390629924 | CCDC88C | c.2497G>T (p.Asp833Tyr) c.2389G>T (p.Asp797Tyr) n.2625G>T n.2623G>T | gnomAD v4 |
14 | g.91313319C= | CA2154878651 | CCDC88C | c.2497G= (p.Asp833=) c.2389G= (p.Asp797=) n.2625G= n.2623G= | |
14 | g.91313319C>G | CA390629923 | CCDC88C | c.2497G>C (p.Asp833His) c.2389G>C (p.Asp797His) n.2625G>C n.2623G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313319C>T | CA390629922 | CCDC88C | c.2497G>A (p.Asp833Asn) c.2389G>A (p.Asp797Asn) n.2625G>A n.2623G>A | |
14 | g.91313319_91313322delinsCCTT | CA2154878653 | CCDC88C | c.2494_2497delinsAAGG (p.Lys832=) c.2386_2389delinsAAGG (p.Lys796=) n.2622_2625delinsAAGG n.2620_2623delinsAAGG | |
14 | g.91313320C>A | CA390629925 | CCDC88C | c.2496G>T (p.Lys832Asn) c.2388G>T (p.Lys796Asn) n.2624G>T n.2622G>T | |
14 | g.91313320C>G | CA390629926 | CCDC88C | c.2496G>C (p.Lys832Asn) c.2388G>C (p.Lys796Asn) n.2624G>C n.2622G>C | |
14 | g.91313320C>T | CA487829498 | CCDC88C | c.2496G>A (p.Lys832=) c.2388G>A (p.Lys796=) n.2624G>A n.2622G>A | |
14 | g.91313322_91313324del | CA616112331 | CCDC88C | c.2494_2496del (p.Lys832del) c.2386_2388del (p.Lys796del) n.2622_2624del n.2620_2622del | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313321T>A | CA390629927 | CCDC88C | c.2495A>T (p.Lys832Met) c.2387A>T (p.Lys796Met) n.2623A>T n.2621A>T | |
14 | g.91313321T>C | CA390629928 | CCDC88C | c.2495A>G (p.Lys832Arg) c.2387A>G (p.Lys796Arg) n.2623A>G n.2621A>G | |
14 | g.91313321T>G | CA390629929 | CCDC88C | c.2495A>C (p.Lys832Thr) c.2387A>C (p.Lys796Thr) n.2623A>C n.2621A>C | |
14 | g.91313322T>A | CA390629930 | CCDC88C | c.2494A>T (p.Lys832Ter) c.2386A>T (p.Lys796Ter) n.2622A>T n.2620A>T | |
14 | g.91313322T>C | CA390629931 | CCDC88C | c.2494A>G (p.Lys832Glu) c.2386A>G (p.Lys796Glu) n.2622A>G n.2620A>G | |
14 | g.91313322T>G | CA390629932 | CCDC88C | c.2494A>C (p.Lys832Gln) c.2386A>C (p.Lys796Gln) n.2622A>C n.2620A>C | |
14 | g.91313323C>A | CA390629933 | CCDC88C | c.2493G>T (p.Glu831Asp) c.2385G>T (p.Glu795Asp) n.2621G>T n.2619G>T | |
14 | g.91313323C>G | CA390629934 | CCDC88C | c.2493G>C (p.Glu831Asp) c.2385G>C (p.Glu795Asp) n.2621G>C n.2619G>C | |
14 | g.91313323C>T | CA487829503 | CCDC88C | c.2493G>A (p.Glu831=) c.2385G>A (p.Glu795=) n.2621G>A n.2619G>A | gnomAD v4 |
14 | g.91313324T>A | CA390629935 | CCDC88C | c.2492A>T (p.Glu831Val) c.2384A>T (p.Glu795Val) n.2620A>T n.2618A>T | |
14 | g.91313324T>C | CA390629936 | CCDC88C | c.2492A>G (p.Glu831Gly) c.2384A>G (p.Glu795Gly) n.2620A>G n.2618A>G | |
14 | g.91313324T>G | CA390629937 | CCDC88C | c.2492A>C (p.Glu831Ala) c.2384A>C (p.Glu795Ala) n.2620A>C n.2618A>C | |
14 | g.91313325C>A | CA390629939 | CCDC88C | c.2491G>T (p.Glu831Ter) c.2383G>T (p.Glu795Ter) n.2619G>T n.2617G>T | |
14 | g.91313325C= | CA2154878659 | CCDC88C | c.2491G= (p.Glu831=) c.2383G= (p.Glu795=) n.2619G= n.2617G= | |
14 | g.91313325C>G | CA390629938 | CCDC88C | c.2491G>C (p.Glu831Gln) c.2383G>C (p.Glu795Gln) n.2619G>C n.2617G>C | gnomAD v4 |
14 | g.91313325C>T | CA7309635 | CCDC88C | c.2491G>A (p.Glu831Lys) c.2383G>A (p.Glu795Lys) n.2619G>A n.2617G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313326G>A | CA7309636 | CCDC88C | c.2490C>T (p.Leu830=) c.2382C>T (p.Leu794=) n.2618C>T n.2616C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313326G>C | CA487829508 | CCDC88C | c.2490C>G (p.Leu830=) c.2382C>G (p.Leu794=) n.2618C>G n.2616C>G | ClinVar dbSNP |
14 | g.91313326G= | CA2154878661 | CCDC88C | c.2490C= (p.Leu830=) c.2382C= (p.Leu794=) n.2618C= n.2616C= | |
14 | g.91313326G>T | CA487829507 | CCDC88C | c.2490C>A (p.Leu830=) c.2382C>A (p.Leu794=) n.2618C>A n.2616C>A | gnomAD v4 |
14 | g.91313327A= | CA2154878664 | CCDC88C | c.2489T= (p.Leu830=) c.2381T= (p.Leu794=) n.2617T= n.2615T= | |
14 | g.91313327A>C | CA390629940 | CCDC88C | c.2489T>G (p.Leu830Arg) c.2381T>G (p.Leu794Arg) n.2617T>G n.2615T>G | |
14 | g.91313327A>G | CA390629941 | CCDC88C | c.2489T>C (p.Leu830Pro) c.2381T>C (p.Leu794Pro) n.2617T>C n.2615T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313327A>T | CA390629942 | CCDC88C | c.2489T>A (p.Leu830His) c.2381T>A (p.Leu794His) n.2617T>A n.2615T>A | |
14 | g.91313328G>A | CA265569478 | CCDC88C | c.2488C>T (p.Leu830Phe) c.2380C>T (p.Leu794Phe) n.2616C>T n.2614C>T | dbSNP |
14 | g.91313328G>C | CA390629943 | CCDC88C | c.2488C>G (p.Leu830Val) c.2380C>G (p.Leu794Val) n.2616C>G n.2614C>G | gnomAD v4 |
14 | g.91313328G= | CA2154878666 | CCDC88C | c.2488C= (p.Leu830=) c.2380C= (p.Leu794=) n.2616C= n.2614C= | |
14 | g.91313328G>T | CA390629944 | CCDC88C | c.2488C>A (p.Leu830Ile) c.2380C>A (p.Leu794Ile) n.2616C>A n.2614C>A | gnomAD v4 |
14 | g.91313329C>A | CA390629946 | CCDC88C | c.2487G>T (p.Gln829His) c.2379G>T (p.Gln793His) n.2615G>T n.2613G>T | |
14 | g.91313329C>G | CA390629945 | CCDC88C | c.2487G>C (p.Gln829His) c.2379G>C (p.Gln793His) n.2615G>C n.2613G>C | |
14 | g.91313329C>T | CA487829512 | CCDC88C | c.2487G>A (p.Gln829=) c.2379G>A (p.Gln793=) n.2615G>A n.2613G>A | |
14 | g.91313330T>A | CA390629947 | CCDC88C | c.2486A>T (p.Gln829Leu) c.2378A>T (p.Gln793Leu) n.2614A>T n.2612A>T | |
14 | g.91313330T>C | CA390629948 | CCDC88C | c.2486A>G (p.Gln829Arg) c.2378A>G (p.Gln793Arg) n.2614A>G n.2612A>G | |
14 | g.91313330T>G | CA390629949 | CCDC88C | c.2486A>C (p.Gln829Pro) c.2378A>C (p.Gln793Pro) n.2614A>C n.2612A>C | |
14 | g.91313331G>A | CA390629950 | CCDC88C | c.2485C>T (p.Gln829Ter) c.2377C>T (p.Gln793Ter) n.2613C>T n.2611C>T | ClinVar |
14 | g.91313331G>C | CA390629951 | CCDC88C | c.2485C>G (p.Gln829Glu) c.2377C>G (p.Gln793Glu) n.2613C>G n.2611C>G | |
14 | g.91313331G>T | CA390629952 | CCDC88C | c.2485C>A (p.Gln829Lys) c.2377C>A (p.Gln793Lys) n.2613C>A n.2611C>A | |
14 | g.91313332G>A | CA487829515 | CCDC88C | c.2484C>T (p.Ala828=) c.2376C>T (p.Ala792=) n.2612C>T n.2610C>T | |
14 | g.91313332G>C | CA487829516 | CCDC88C | c.2484C>G (p.Ala828=) c.2376C>G (p.Ala792=) n.2612C>G n.2610C>G | |
14 | g.91313332G>T | CA487829518 | CCDC88C | c.2484C>A (p.Ala828=) c.2376C>A (p.Ala792=) n.2612C>A n.2610C>A | |
14 | g.91313333G>A | CA7309637 | CCDC88C | c.2483C>T (p.Ala828Val) c.2375C>T (p.Ala792Val) n.2611C>T n.2609C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313333G>C | CA390629954 | CCDC88C | c.2483C>G (p.Ala828Gly) c.2375C>G (p.Ala792Gly) n.2611C>G n.2609C>G | |
14 | g.91313333G= | CA2154878672 | CCDC88C | c.2483C= (p.Ala828=) c.2375C= (p.Ala792=) n.2611C= n.2609C= | |
14 | g.91313333G>T | CA390629953 | CCDC88C | c.2483C>A (p.Ala828Asp) c.2375C>A (p.Ala792Asp) n.2611C>A n.2609C>A | |
14 | g.91313334C>A | CA390629955 | CCDC88C | c.2482G>T (p.Ala828Ser) c.2374G>T (p.Ala792Ser) n.2610G>T n.2608G>T | |
14 | g.91313334C>G | CA390629956 | CCDC88C | c.2482G>C (p.Ala828Pro) c.2374G>C (p.Ala792Pro) n.2610G>C n.2608G>C | |
14 | g.91313334C>T | CA390629957 | CCDC88C | c.2482G>A (p.Ala828Thr) c.2374G>A (p.Ala792Thr) n.2610G>A n.2608G>A | |
14 | g.91313335C>A | CA487829522 | CCDC88C | c.2481G>T (p.Val827=) c.2373G>T (p.Val791=) n.2609G>T n.2607G>T | |
14 | g.91313335C= | CA2154878674 | CCDC88C | c.2481G= (p.Val827=) c.2373G= (p.Val791=) n.2609G= n.2607G= | |
14 | g.91313335C>G | CA487829523 | CCDC88C | c.2481G>C (p.Val827=) c.2373G>C (p.Val791=) n.2609G>C n.2607G>C | |
14 | g.91313335C>T | CA487829524 | CCDC88C | c.2481G>A (p.Val827=) c.2373G>A (p.Val791=) n.2609G>A n.2607G>A | dbSNP gnomAD v2 |
14 | g.91313336A= | CA2154878679 | CCDC88C | c.2480T= (p.Val827=) c.2372T= (p.Val791=) n.2608T= n.2606T= | |
14 | g.91313336A>C | CA390629958 | CCDC88C | c.2480T>G (p.Val827Gly) c.2372T>G (p.Val791Gly) n.2608T>G n.2606T>G | |
14 | g.91313336A>G | CA7309638 | CCDC88C | c.2480T>C (p.Val827Ala) c.2372T>C (p.Val791Ala) n.2608T>C n.2606T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313336A>T | CA390629959 | CCDC88C | c.2480T>A (p.Val827Glu) c.2372T>A (p.Val791Glu) n.2608T>A n.2606T>A | |
14 | g.91313337C>A | CA390629960 | CCDC88C | c.2479G>T (p.Val827Leu) c.2371G>T (p.Val791Leu) n.2607G>T n.2605G>T | |
14 | g.91313337C= | CA2154878683 | CCDC88C | c.2479G= (p.Val827=) c.2371G= (p.Val791=) n.2607G= n.2605G= | |
14 | g.91313337C>G | CA390629961 | CCDC88C | c.2479G>C (p.Val827Leu) c.2371G>C (p.Val791Leu) n.2607G>C n.2605G>C | |
14 | g.91313337C>T | CA7309639 | CCDC88C | c.2479G>A (p.Val827Met) c.2371G>A (p.Val791Met) n.2607G>A n.2605G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313338C>A | CA390629962 | CCDC88C | c.2478G>T (p.Glu826Asp) c.2370G>T (p.Glu790Asp) n.2606G>T n.2604G>T | |
14 | g.91313338C= | CA2154878686 | CCDC88C | c.2478G= (p.Glu826=) c.2370G= (p.Glu790=) n.2606G= n.2604G= | |
14 | g.91313338C>G | CA390629963 | CCDC88C | c.2478G>C (p.Glu826Asp) c.2370G>C (p.Glu790Asp) n.2606G>C n.2604G>C | |
14 | g.91313338C>T | CA7309640 | CCDC88C | c.2478G>A (p.Glu826=) c.2370G>A (p.Glu790=) n.2606G>A n.2604G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313339T>A | CA7309642 | CCDC88C | c.2477A>T (p.Glu826Val) c.2369A>T (p.Glu790Val) n.2605A>T n.2603A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313339T>C | CA390629964 | CCDC88C | c.2477A>G (p.Glu826Gly) c.2369A>G (p.Glu790Gly) n.2605A>G n.2603A>G | |
14 | g.91313339T>G | CA7309641 | CCDC88C | c.2477A>C (p.Glu826Ala) c.2369A>C (p.Glu790Ala) n.2605A>C n.2603A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313339T= | CA2154878690 | CCDC88C | c.2477A= (p.Glu826=) c.2369A= (p.Glu790=) n.2605A= n.2603A= | |
14 | g.91313340C>A | CA390629965 | CCDC88C | c.2476G>T (p.Glu826Ter) c.2368G>T (p.Glu790Ter) n.2604G>T n.2602G>T | |
14 | g.91313340C= | CA2154878694 | CCDC88C | c.2476G= (p.Glu826=) c.2368G= (p.Glu790=) n.2604G= n.2602G= | |
14 | g.91313340C>G | CA7309643 | CCDC88C | c.2476G>C (p.Glu826Gln) c.2368G>C (p.Glu790Gln) n.2604G>C n.2602G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313340C>T | CA390629966 | CCDC88C | c.2476G>A (p.Glu826Lys) c.2368G>A (p.Glu790Lys) n.2604G>A n.2602G>A | |
14 | g.91313341C>A | CA390629967 | CCDC88C | c.2475G>T (p.Gln825His) c.2367G>T (p.Gln789His) n.2603G>T n.2601G>T | |
14 | g.91313341C>G | CA390629968 | CCDC88C | c.2475G>C (p.Gln825His) c.2367G>C (p.Gln789His) n.2603G>C n.2601G>C | |
14 | g.91313341C>T | CA487829531 | CCDC88C | c.2475G>A (p.Gln825=) c.2367G>A (p.Gln789=) n.2603G>A n.2601G>A | |
14 | g.91313342T>A | CA390629969 | CCDC88C | c.2474A>T (p.Gln825Leu) c.2366A>T (p.Gln789Leu) n.2602A>T n.2600A>T | |
14 | g.91313342T>C | CA390629970 | CCDC88C | c.2474A>G (p.Gln825Arg) c.2366A>G (p.Gln789Arg) n.2602A>G n.2600A>G | |
14 | g.91313342T>G | CA390629971 | CCDC88C | c.2474A>C (p.Gln825Pro) c.2366A>C (p.Gln789Pro) n.2602A>C n.2600A>C | |
14 | g.91313343G>A | CA390629972 | CCDC88C | c.2473C>T (p.Gln825Ter) c.2365C>T (p.Gln789Ter) n.2601C>T n.2599C>T | gnomAD v4 |
14 | g.91313343G>C | CA390629973 | CCDC88C | c.2473C>G (p.Gln825Glu) c.2365C>G (p.Gln789Glu) n.2601C>G n.2599C>G | |
14 | g.91313343G= | CA2154878696 | CCDC88C | c.2473C= (p.Gln825=) c.2365C= (p.Gln789=) n.2601C= n.2599C= | |
14 | g.91313343G>T | CA265569542 | CCDC88C | c.2473C>A (p.Gln825Lys) c.2365C>A (p.Gln789Lys) n.2601C>A n.2599C>A | dbSNP gnomAD v4 |
14 | g.91313344C>A | CA390629974 | CCDC88C | c.2472G>T (p.Glu824Asp) c.2364G>T (p.Glu788Asp) n.2600G>T n.2598G>T | |
14 | g.91313344C= | CA2154878698 | CCDC88C | c.2472G= (p.Glu824=) c.2364G= (p.Glu788=) n.2600G= n.2598G= | |
14 | g.91313344C>G | CA390629975 | CCDC88C | c.2472G>C (p.Glu824Asp) c.2364G>C (p.Glu788Asp) n.2600G>C n.2598G>C | |
14 | g.91313344C>T | CA487829536 | CCDC88C | c.2472G>A (p.Glu824=) c.2364G>A (p.Glu788=) n.2600G>A n.2598G>A | ClinVar dbSNP gnomAD v4 |
14 | g.91313345T>A | CA390629978 | CCDC88C | c.2471A>T (p.Glu824Val) c.2363A>T (p.Glu788Val) n.2599A>T n.2597A>T | |
14 | g.91313345T>C | CA390629976 | CCDC88C | c.2471A>G (p.Glu824Gly) c.2363A>G (p.Glu788Gly) n.2599A>G n.2597A>G | dbSNP |
14 | g.91313345T>G | CA390629977 | CCDC88C | c.2471A>C (p.Glu824Ala) c.2363A>C (p.Glu788Ala) n.2599A>C n.2597A>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313345T= | CA2154878700 | CCDC88C | c.2471A= (p.Glu824=) c.2363A= (p.Glu788=) n.2599A= n.2597A= | |
14 | g.91313346C>A | CA390629979 | CCDC88C | c.2470G>T (p.Glu824Ter) c.2362G>T (p.Glu788Ter) n.2598G>T n.2596G>T | |
14 | g.91313346C>G | CA390629980 | CCDC88C | c.2470G>C (p.Glu824Gln) c.2362G>C (p.Glu788Gln) n.2598G>C n.2596G>C | |
14 | g.91313346C>T | CA390629981 | CCDC88C | c.2470G>A (p.Glu824Lys) c.2362G>A (p.Glu788Lys) n.2598G>A n.2596G>A | |
14 | g.91313347C>A | CA487829540 | CCDC88C | c.2469G>T (p.Leu823=) c.2361G>T (p.Leu787=) n.2597G>T n.2595G>T | |
14 | g.91313347C>G | CA487829541 | CCDC88C | c.2469G>C (p.Leu823=) c.2361G>C (p.Leu787=) n.2597G>C n.2595G>C | |
14 | g.91313347C>T | CA487829542 | CCDC88C | c.2469G>A (p.Leu823=) c.2361G>A (p.Leu787=) n.2597G>A n.2595G>A | gnomAD v4 |
14 | g.91313348A= | CA2154878704 | CCDC88C | c.2468T= (p.Leu823=) c.2360T= (p.Leu787=) n.2596T= n.2594T= | |
14 | g.91313348A>C | CA390629982 | CCDC88C | c.2468T>G (p.Leu823Arg) c.2360T>G (p.Leu787Arg) n.2596T>G n.2594T>G | |
14 | g.91313348A>G | CA265569569 | CCDC88C | c.2468T>C (p.Leu823Pro) c.2360T>C (p.Leu787Pro) n.2596T>C n.2594T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313348A>T | CA390629983 | CCDC88C | c.2468T>A (p.Leu823Gln) c.2360T>A (p.Leu787Gln) n.2596T>A n.2594T>A | |
14 | g.91313349G>A | CA487829545 | CCDC88C | c.2467C>T (p.Leu823=) c.2359C>T (p.Leu787=) n.2595C>T n.2593C>T | |
14 | g.91313349G>C | CA390629984 | CCDC88C | c.2467C>G (p.Leu823Val) c.2359C>G (p.Leu787Val) n.2595C>G n.2593C>G | gnomAD v4 |
14 | g.91313349G>T | CA390629985 | CCDC88C | c.2467C>A (p.Leu823Met) c.2359C>A (p.Leu787Met) n.2595C>A n.2593C>A | |
14 | g.91313350G>A | CA7309644 | CCDC88C | c.2466C>T (p.Ala822=) c.2358C>T (p.Ala786=) n.2594C>T n.2592C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313350G>C | CA487829548 | CCDC88C | c.2466C>G (p.Ala822=) c.2358C>G (p.Ala786=) n.2594C>G n.2592C>G | |
14 | g.91313350G= | CA2154878708 | CCDC88C | c.2466C= (p.Ala822=) c.2358C= (p.Ala786=) n.2594C= n.2592C= | |
14 | g.91313350G>T | CA487829547 | CCDC88C | c.2466C>A (p.Ala822=) c.2358C>A (p.Ala786=) n.2594C>A n.2592C>A | gnomAD v4 |
14 | g.91313351G>A | CA390629986 | CCDC88C | c.2465C>T (p.Ala822Val) c.2357C>T (p.Ala786Val) n.2593C>T n.2591C>T | |
14 | g.91313351G>C | CA390629987 | CCDC88C | c.2465C>G (p.Ala822Gly) c.2357C>G (p.Ala786Gly) n.2593C>G n.2591C>G | |
14 | g.91313351G>T | CA390629988 | CCDC88C | c.2465C>A (p.Ala822Asp) c.2357C>A (p.Ala786Asp) n.2593C>A n.2591C>A | gnomAD v4 |