| 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.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 |