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.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.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 |