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.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 |