Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91313374dup | CA616112342 | CCDC88C | c.2446dup (p.Ala816GlyfsTer19) c.2338dup (p.Ala780GlyfsTer19) n.2574dup n.2572dup | dbSNP gnomAD v2 |
14 | g.91313374del | CA2626130723 | CCDC88C | c.2446del (p.Ala816ProfsTer?) c.2338del (p.Ala780ProfsTer?) n.2574del n.2572del | gnomAD v4 |
14 | g.91313374C>A | CA390630038 | CCDC88C | c.2442G>T (p.Glu814Asp) c.2334G>T (p.Glu778Asp) n.2570G>T n.2568G>T | |
14 | g.91313374C>G | CA390630039 | CCDC88C | c.2442G>C (p.Glu814Asp) c.2334G>C (p.Glu778Asp) n.2570G>C n.2568G>C | |
14 | g.91313374C>T | CA487829574 | CCDC88C | c.2442G>A (p.Glu814=) c.2334G>A (p.Glu778=) n.2570G>A n.2568G>A | gnomAD v4 |
14 | g.91313375T>A | CA390630040 | CCDC88C | c.2441A>T (p.Glu814Val) c.2333A>T (p.Glu778Val) n.2569A>T n.2567A>T | |
14 | g.91313375T>C | CA390630041 | CCDC88C | c.2441A>G (p.Glu814Gly) c.2333A>G (p.Glu778Gly) n.2569A>G n.2567A>G | |
14 | g.91313375T>G | CA390630042 | CCDC88C | c.2441A>C (p.Glu814Ala) c.2333A>C (p.Glu778Ala) n.2569A>C n.2567A>C | |
14 | g.91313376C>A | CA390630043 | CCDC88C | c.2440G>T (p.Glu814Ter) c.2332G>T (p.Glu778Ter) n.2568G>T n.2566G>T | gnomAD v4 |
14 | g.91313376C>G | CA390630044 | CCDC88C | c.2440G>C (p.Glu814Gln) c.2332G>C (p.Glu778Gln) n.2568G>C n.2566G>C | |
14 | g.91313376C>T | CA390630045 | CCDC88C | c.2440G>A (p.Glu814Lys) c.2332G>A (p.Glu778Lys) n.2568G>A n.2566G>A | gnomAD v4 |
14 | g.91313377C>A | CA390630046 | CCDC88C | c.2439G>T (p.Leu813Phe) c.2331G>T (p.Leu777Phe) n.2567G>T n.2565G>T | |
14 | g.91313377C>G | CA390630047 | CCDC88C | c.2439G>C (p.Leu813Phe) c.2331G>C (p.Leu777Phe) n.2567G>C n.2565G>C | |
14 | g.91313377C>T | CA487829575 | CCDC88C | c.2439G>A (p.Leu813=) c.2331G>A (p.Leu777=) n.2567G>A n.2565G>A | |
14 | g.91313378A>C | CA390630048 | CCDC88C | c.2438T>G (p.Leu813Trp) c.2330T>G (p.Leu777Trp) n.2566T>G n.2564T>G | |
14 | g.91313378A>G | CA390630050 | CCDC88C | c.2438T>C (p.Leu813Ser) c.2330T>C (p.Leu777Ser) n.2566T>C n.2564T>C | gnomAD v4 |
14 | g.91313378A>T | CA390630049 | CCDC88C | c.2438T>A (p.Leu813Ter) c.2330T>A (p.Leu777Ter) n.2566T>A n.2564T>A | |
14 | g.91313378_91313379insCCAAACACACCCAACAC | CA2802582088 | CCDC88C | c.2437_2438insGTGTTGGGTGTGTTTGG (p.Leu813CysfsTer?) c.2329_2330insGTGTTGGGTGTGTTTGG (p.Leu777CysfsTer?) n.2565_2566insGTGTTGGGTGTGTTTGG n.2563_2564insGTGTTGGGTGTGTTTGG | |
14 | g.91313379A>C | CA390630051 | CCDC88C | c.2437T>G (p.Leu813Val) c.2329T>G (p.Leu777Val) n.2565T>G n.2563T>G | |
14 | g.91313379A>G | CA487829576 | CCDC88C | c.2437T>C (p.Leu813=) c.2329T>C (p.Leu777=) n.2565T>C n.2563T>C | |
14 | g.91313379A>T | CA390630052 | CCDC88C | c.2437T>A (p.Leu813Met) c.2329T>A (p.Leu777Met) n.2565T>A n.2563T>A | |
14 | g.91313380C>A | CA390630053 | CCDC88C | c.2436G>T (p.Gln812His) c.2328G>T (p.Gln776His) n.2564G>T n.2562G>T | |
14 | g.91313380C= | CA2154878750 | CCDC88C | c.2436G= (p.Gln812=) c.2328G= (p.Gln776=) n.2564G= n.2562G= | |
14 | g.91313380C>G | CA390630054 | CCDC88C | c.2436G>C (p.Gln812His) c.2328G>C (p.Gln776His) n.2564G>C n.2562G>C | |
14 | g.91313380C>T | CA7309649 | CCDC88C | c.2436G>A (p.Gln812=) c.2328G>A (p.Gln776=) n.2564G>A n.2562G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313381T>A | CA390630055 | CCDC88C | c.2435A>T (p.Gln812Leu) c.2327A>T (p.Gln776Leu) n.2563A>T n.2561A>T | |
14 | g.91313381T>C | CA7309650 | CCDC88C | c.2435A>G (p.Gln812Arg) c.2327A>G (p.Gln776Arg) n.2563A>G n.2561A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313381T>G | CA390630056 | CCDC88C | c.2435A>C (p.Gln812Pro) c.2327A>C (p.Gln776Pro) n.2563A>C n.2561A>C | |
14 | g.91313381T= | CA2154878753 | CCDC88C | c.2435A= (p.Gln812=) c.2327A= (p.Gln776=) n.2563A= n.2561A= | |
14 | g.91313383_91313384del | CA2523038609 | CCDC88C | c.2434_2435del (p.Gln812ValfsTer22) c.2326_2327del (p.Gln776ValfsTer22) n.2562_2563del n.2560_2561del | |
14 | g.91313382G>A | CA390630057 | CCDC88C | c.2434C>T (p.Gln812Ter) c.2326C>T (p.Gln776Ter) n.2562C>T n.2560C>T | |
14 | g.91313382G>C | CA7309651 | CCDC88C | c.2434C>G (p.Gln812Glu) c.2326C>G (p.Gln776Glu) n.2562C>G n.2560C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313382G= | CA2154878757 | CCDC88C | c.2434C= (p.Gln812=) c.2326C= (p.Gln776=) n.2562C= n.2560C= | |
14 | g.91313382G>T | CA390630058 | CCDC88C | c.2434C>A (p.Gln812Lys) c.2326C>A (p.Gln776Lys) n.2562C>A n.2560C>A | gnomAD v4 |
14 | g.91313383T>A | CA487829577 | CCDC88C | c.2433A>T (p.Ala811=) c.2325A>T (p.Ala775=) n.2561A>T n.2559A>T | |
14 | g.91313383T>C | CA487829578 | CCDC88C | c.2433A>G (p.Ala811=) c.2325A>G (p.Ala775=) n.2561A>G n.2559A>G | gnomAD v4 |
14 | g.91313383T>G | CA487829579 | CCDC88C | c.2433A>C (p.Ala811=) c.2325A>C (p.Ala775=) n.2561A>C n.2559A>C | |
14 | g.91313384G>A | CA390630060 | CCDC88C | c.2432C>T (p.Ala811Val) c.2324C>T (p.Ala775Val) n.2560C>T n.2558C>T | |
14 | g.91313384G>C | CA390630059 | CCDC88C | c.2432C>G (p.Ala811Gly) c.2324C>G (p.Ala775Gly) n.2560C>G n.2558C>G | |
14 | g.91313384G= | CA2154878762 | CCDC88C | c.2432C= (p.Ala811=) c.2324C= (p.Ala775=) n.2560C= n.2558C= | |
14 | g.91313384G>T | CA171512 | CCDC88C | c.2432C>A (p.Ala811Glu) c.2324C>A (p.Ala775Glu) n.2560C>A n.2558C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313385C>A | CA390630061 | CCDC88C | c.2431G>T (p.Ala811Ser) c.2323G>T (p.Ala775Ser) n.2559G>T n.2557G>T | |
14 | g.91313385C>G | CA390630062 | CCDC88C | c.2431G>C (p.Ala811Pro) c.2323G>C (p.Ala775Pro) n.2559G>C n.2557G>C | |
14 | g.91313385C>T | CA390630063 | CCDC88C | c.2431G>A (p.Ala811Thr) c.2323G>A (p.Ala775Thr) n.2559G>A n.2557G>A | gnomAD v4 |
14 | g.91313385_91313386insCG | CA2569052334 | CCDC88C | c.2430_2431insCG (p.Ala811ArgfsTer?) c.2322_2323insCG (p.Ala775ArgfsTer?) n.2558_2559insCG n.2556_2557insCG | |
14 | g.91313386A>C | CA390630064 | CCDC88C | c.2430T>G (p.Asn810Lys) c.2322T>G (p.Asn774Lys) n.2558T>G n.2556T>G | |
14 | g.91313386A>G | CA487829583 | CCDC88C | c.2430T>C (p.Asn810=) c.2322T>C (p.Asn774=) n.2558T>C n.2556T>C | gnomAD v4 |
14 | g.91313386A>T | CA390630065 | CCDC88C | c.2430T>A (p.Asn810Lys) c.2322T>A (p.Asn774Lys) n.2558T>A n.2556T>A | |
14 | g.91313387T>A | CA7309653 | CCDC88C | c.2429A>T (p.Asn810Ile) c.2321A>T (p.Asn774Ile) n.2557A>T n.2555A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313387T>C | CA7309652 | CCDC88C | c.2429A>G (p.Asn810Ser) c.2321A>G (p.Asn774Ser) n.2557A>G n.2555A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313387T>G | CA390630066 | CCDC88C | c.2429A>C (p.Asn810Thr) c.2321A>C (p.Asn774Thr) n.2557A>C n.2555A>C | ClinVar gnomAD v4 |
14 | g.91313387T= | CA2154878768 | CCDC88C | c.2429A= (p.Asn810=) c.2321A= (p.Asn774=) n.2557A= n.2555A= | |
14 | g.91313388T>A | CA390630067 | CCDC88C | c.2428A>T (p.Asn810Tyr) c.2320A>T (p.Asn774Tyr) n.2556A>T n.2554A>T | |
14 | g.91313388T>C | CA390630068 | CCDC88C | c.2428A>G (p.Asn810Asp) c.2320A>G (p.Asn774Asp) n.2556A>G n.2554A>G | gnomAD v4 |
14 | g.91313388T>G | CA390630069 | CCDC88C | c.2428A>C (p.Asn810His) c.2320A>C (p.Asn774His) n.2556A>C n.2554A>C | |
14 | g.91313389G>A | CA487829587 | CCDC88C | c.2427C>T (p.Ala809=) c.2319C>T (p.Ala773=) n.2555C>T n.2553C>T | |
14 | g.91313389G>C | CA487829588 | CCDC88C | c.2427C>G (p.Ala809=) c.2319C>G (p.Ala773=) n.2555C>G n.2553C>G | |
14 | g.91313389G>T | CA487829589 | CCDC88C | c.2427C>A (p.Ala809=) c.2319C>A (p.Ala773=) n.2555C>A n.2553C>A | gnomAD v4 |
14 | g.91313390G>A | CA390630071 | CCDC88C | c.2426C>T (p.Ala809Val) c.2318C>T (p.Ala773Val) n.2554C>T n.2552C>T | gnomAD v4 |
14 | g.91313390G>C | CA390630072 | CCDC88C | c.2426C>G (p.Ala809Gly) c.2318C>G (p.Ala773Gly) n.2554C>G n.2552C>G | |
14 | g.91313390G= | CA2154878773 | CCDC88C | c.2426C= (p.Ala809=) c.2318C= (p.Ala773=) n.2554C= n.2552C= | |
14 | g.91313390G>T | CA390630070 | CCDC88C | c.2426C>A (p.Ala809Asp) c.2318C>A (p.Ala773Asp) n.2554C>A n.2552C>A | dbSNP gnomAD v4 |
14 | g.91313391C>A | CA390630073 | CCDC88C | c.2425G>T (p.Ala809Ser) c.2317G>T (p.Ala773Ser) n.2553G>T n.2551G>T | gnomAD v4 |
14 | g.91313391C>G | CA390630074 | CCDC88C | c.2425G>C (p.Ala809Pro) c.2317G>C (p.Ala773Pro) n.2553G>C n.2551G>C | |
14 | g.91313391C>T | CA390630075 | CCDC88C | c.2425G>A (p.Ala809Thr) c.2317G>A (p.Ala773Thr) n.2553G>A n.2551G>A | gnomAD v4 |
14 | g.91313392C>A | CA487829590 | CCDC88C | c.2424G>T (p.Leu808=) c.2316G>T (p.Leu772=) n.2552G>T n.2550G>T | |
14 | g.91313392C= | CA2154878778 | CCDC88C | c.2424G= (p.Leu808=) c.2316G= (p.Leu772=) n.2552G= n.2550G= | |
14 | g.91313392C>G | CA487829591 | CCDC88C | c.2424G>C (p.Leu808=) c.2316G>C (p.Leu772=) n.2552G>C n.2550G>C | |
14 | g.91313392C>T | CA7309654 | CCDC88C | c.2424G>A (p.Leu808=) c.2316G>A (p.Leu772=) n.2552G>A n.2550G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313393A>C | CA390630076 | CCDC88C | c.2423T>G (p.Leu808Arg) c.2315T>G (p.Leu772Arg) n.2551T>G n.2549T>G | |
14 | g.91313393A>G | CA390630077 | CCDC88C | c.2423T>C (p.Leu808Pro) c.2315T>C (p.Leu772Pro) n.2551T>C n.2549T>C | |
14 | g.91313393A>T | CA390630078 | CCDC88C | c.2423T>A (p.Leu808Gln) c.2315T>A (p.Leu772Gln) n.2551T>A n.2549T>A | |
14 | g.91313394G>A | CA487829592 | CCDC88C | c.2422C>T (p.Leu808=) c.2314C>T (p.Leu772=) n.2550C>T n.2548C>T | ClinVar gnomAD v4 |
14 | g.91313394G>C | CA390630079 | CCDC88C | c.2422C>G (p.Leu808Val) c.2314C>G (p.Leu772Val) n.2550C>G n.2548C>G | |
14 | g.91313394G>T | CA390630080 | CCDC88C | c.2422C>A (p.Leu808Met) c.2314C>A (p.Leu772Met) n.2550C>A n.2548C>A | |
14 | g.91313395C>A | CA487829593 | CCDC88C | c.2421G>T (p.Arg807=) c.2313G>T (p.Arg771=) n.2549G>T n.2547G>T | |
14 | g.91313395C= | CA2154878780 | CCDC88C | c.2421G= (p.Arg807=) c.2313G= (p.Arg771=) n.2549G= n.2547G= | |
14 | g.91313395C>G | CA487829594 | CCDC88C | c.2421G>C (p.Arg807=) c.2313G>C (p.Arg771=) n.2549G>C n.2547G>C | |
14 | g.91313395C>T | CA265569679 | CCDC88C | c.2421G>A (p.Arg807=) c.2313G>A (p.Arg771=) n.2549G>A n.2547G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313396C>A | CA390630081 | CCDC88C | c.2420G>T (p.Arg807Leu) c.2312G>T (p.Arg771Leu) n.2548G>T n.2546G>T | gnomAD v4 |
14 | g.91313396C= | CA2154878782 | CCDC88C | c.2420G= (p.Arg807=) c.2312G= (p.Arg771=) n.2548G= n.2546G= | |
14 | g.91313396C>G | CA390630082 | CCDC88C | c.2420G>C (p.Arg807Pro) c.2312G>C (p.Arg771Pro) n.2548G>C n.2546G>C | |
14 | g.91313396C>T | CA7309655 | CCDC88C | c.2420G>A (p.Arg807Gln) c.2312G>A (p.Arg771Gln) n.2548G>A n.2546G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313397G>A | CA7309656 | CCDC88C | c.2419C>T (p.Arg807Trp) c.2311C>T (p.Arg771Trp) n.2547C>T n.2545C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.91313397G>C | CA390630083 | CCDC88C | c.2419C>G (p.Arg807Gly) c.2311C>G (p.Arg771Gly) n.2547C>G n.2545C>G | |
14 | g.91313397G= | CA2154878785 | CCDC88C | c.2419C= (p.Arg807=) c.2311C= (p.Arg771=) n.2547C= n.2545C= | |
14 | g.91313397G>T | CA487829597 | CCDC88C | c.2419C>A (p.Arg807=) c.2311C>A (p.Arg771=) n.2547C>A n.2545C>A | gnomAD v4 |
14 | g.91313398G>A | CA487829598 | CCDC88C | c.2418C>T (p.Leu806=) c.2310C>T (p.Leu770=) n.2546C>T n.2544C>T | |
14 | g.91313398G>C | CA487829599 | CCDC88C | c.2418C>G (p.Leu806=) c.2310C>G (p.Leu770=) n.2546C>G n.2544C>G | |
14 | g.91313398G>T | CA487829600 | CCDC88C | c.2418C>A (p.Leu806=) c.2310C>A (p.Leu770=) n.2546C>A n.2544C>A | |
14 | g.91313399A= | CA2154878788 | CCDC88C | c.2417T= (p.Leu806=) c.2309T= (p.Leu770=) n.2545T= n.2543T= | |
14 | g.91313399A>C | CA390630084 | CCDC88C | c.2417T>G (p.Leu806Arg) c.2309T>G (p.Leu770Arg) n.2545T>G n.2543T>G | |
14 | g.91313399A>G | CA7309657 | CCDC88C | c.2417T>C (p.Leu806Pro) c.2309T>C (p.Leu770Pro) n.2545T>C n.2543T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313399A>T | CA390630085 | CCDC88C | c.2417T>A (p.Leu806His) c.2309T>A (p.Leu770His) n.2545T>A n.2543T>A | |
14 | g.91313399_91313400delinsAG | CA2154878789 | CCDC88C | c.2416_2417delinsCT (p.Leu806=) c.2308_2309delinsCT (p.Leu770=) n.2544_2545delinsCT n.2542_2543delinsCT | |
14 | g.91313400G>A | CA7309658 | CCDC88C | c.2416C>T (p.Leu806Phe) c.2308C>T (p.Leu770Phe) n.2544C>T n.2542C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313400G>C | CA390630086 | CCDC88C | c.2416C>G (p.Leu806Val) c.2308C>G (p.Leu770Val) n.2544C>G n.2542C>G | gnomAD v4 |
14 | g.91313400G= | CA2154878794 | CCDC88C | c.2416C= (p.Leu806=) c.2308C= (p.Leu770=) n.2544C= n.2542C= | |
14 | g.91313400G>T | CA390630087 | CCDC88C | c.2416C>A (p.Leu806Ile) c.2308C>A (p.Leu770Ile) n.2544C>A n.2542C>A | gnomAD v4 |
14 | g.91313402del | CA616112346 | CCDC88C | c.2416del (p.Leu806SerfsTer?) c.2308del (p.Leu770SerfsTer?) n.2544del n.2542del | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313401G>A | CA487829604 | CCDC88C | c.2415C>T (p.Ala805=) c.2307C>T (p.Ala769=) n.2543C>T n.2541C>T | dbSNP |
14 | g.91313401G>C | CA487829601 | CCDC88C | c.2415C>G (p.Ala805=) c.2307C>G (p.Ala769=) n.2543C>G n.2541C>G | |
14 | g.91313401G= | CA2154878796 | CCDC88C | c.2415C= (p.Ala805=) c.2307C= (p.Ala769=) n.2543C= n.2541C= | |
14 | g.91313401G>T | CA487829603 | CCDC88C | c.2415C>A (p.Ala805=) c.2307C>A (p.Ala769=) n.2543C>A n.2541C>A | gnomAD v4 |
14 | g.91313402G>A | CA7309659 | CCDC88C | c.2414C>T (p.Ala805Val) c.2306C>T (p.Ala769Val) n.2542C>T n.2540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313402G>C | CA390630088 | CCDC88C | c.2414C>G (p.Ala805Gly) c.2306C>G (p.Ala769Gly) n.2542C>G n.2540C>G | dbSNP |
14 | g.91313402G= | CA2154878798 | CCDC88C | c.2414C= (p.Ala805=) c.2306C= (p.Ala769=) n.2542C= n.2540C= | |
14 | g.91313402G>T | CA390630089 | CCDC88C | c.2414C>A (p.Ala805Asp) c.2306C>A (p.Ala769Asp) n.2542C>A n.2540C>A | gnomAD v4 |
14 | g.91313403C>A | CA390630090 | CCDC88C | c.2413G>T (p.Ala805Ser) c.2305G>T (p.Ala769Ser) n.2541G>T n.2539G>T | |
14 | g.91313403C= | CA2154878801 | CCDC88C | c.2413G= (p.Ala805=) c.2305G= (p.Ala769=) n.2541G= n.2539G= | |
14 | g.91313403C>G | CA390630091 | CCDC88C | c.2413G>C (p.Ala805Pro) c.2305G>C (p.Ala769Pro) n.2541G>C n.2539G>C | |
14 | g.91313403C>T | CA7309660 | CCDC88C | c.2413G>A (p.Ala805Thr) c.2305G>A (p.Ala769Thr) n.2541G>A n.2539G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313404C>A | CA390630092 | CCDC88C | c.2412G>T (p.Glu804Asp) c.2304G>T (p.Glu768Asp) n.2540G>T n.2538G>T | |
14 | g.91313404C>G | CA390630093 | CCDC88C | c.2412G>C (p.Glu804Asp) c.2304G>C (p.Glu768Asp) n.2540G>C n.2538G>C | |
14 | g.91313404C>T | CA487829605 | CCDC88C | c.2412G>A (p.Glu804=) c.2304G>A (p.Glu768=) n.2540G>A n.2538G>A | |
14 | g.91313405T>A | CA390630094 | CCDC88C | c.2411A>T (p.Glu804Val) c.2303A>T (p.Glu768Val) n.2539A>T n.2537A>T | dbSNP gnomAD v4 |
14 | g.91313405T>C | CA390630096 | CCDC88C | c.2411A>G (p.Glu804Gly) c.2303A>G (p.Glu768Gly) n.2539A>G n.2537A>G | dbSNP |
14 | g.91313405T>G | CA390630095 | CCDC88C | c.2411A>C (p.Glu804Ala) c.2303A>C (p.Glu768Ala) n.2539A>C n.2537A>C | |
14 | g.91313405T= | CA2154878804 | CCDC88C | c.2411A= (p.Glu804=) c.2303A= (p.Glu768=) n.2539A= n.2537A= | |
14 | g.91313406C>A | CA390630097 | CCDC88C | c.2410G>T (p.Glu804Ter) c.2302G>T (p.Glu768Ter) n.2538G>T n.2536G>T | |
14 | g.91313406C>G | CA390630099 | CCDC88C | c.2410G>C (p.Glu804Gln) c.2302G>C (p.Glu768Gln) n.2538G>C n.2536G>C | |
14 | g.91313406C>T | CA390630098 | CCDC88C | c.2410G>A (p.Glu804Lys) c.2302G>A (p.Glu768Lys) n.2538G>A n.2536G>A | |
14 | g.91313407C>A | CA487829606 | CCDC88C | c.2409G>T (p.Leu803=) c.2301G>T (p.Leu767=) n.2537G>T n.2535G>T | |
14 | g.91313407C>G | CA487829607 | CCDC88C | c.2409G>C (p.Leu803=) c.2301G>C (p.Leu767=) n.2537G>C n.2535G>C | |
14 | g.91313407C>T | CA487829608 | CCDC88C | c.2409G>A (p.Leu803=) c.2301G>A (p.Leu767=) n.2537G>A n.2535G>A | ClinVar |
14 | g.91313408A= | CA2154878808 | CCDC88C | c.2408T= (p.Leu803=) c.2300T= (p.Leu767=) n.2536T= n.2534T= | |
14 | g.91313408A>C | CA390630100 | CCDC88C | c.2408T>G (p.Leu803Arg) c.2300T>G (p.Leu767Arg) n.2536T>G n.2534T>G | gnomAD v4 |
14 | g.91313408A>G | CA7309662 | CCDC88C | c.2408T>C (p.Leu803Pro) c.2300T>C (p.Leu767Pro) n.2536T>C n.2534T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313408A>T | CA7309661 | CCDC88C | c.2408T>A (p.Leu803Gln) c.2300T>A (p.Leu767Gln) n.2536T>A n.2534T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313409G>A | CA7309663 | CCDC88C | c.2407C>T (p.Leu803=) c.2299C>T (p.Leu767=) n.2535C>T n.2533C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313409G>C | CA390630102 | CCDC88C | c.2407C>G (p.Leu803Val) c.2299C>G (p.Leu767Val) n.2535C>G n.2533C>G | COSMIC COSMIC |
14 | g.91313409G= | CA2154878812 | CCDC88C | c.2407C= (p.Leu803=) c.2299C= (p.Leu767=) n.2535C= n.2533C= | |
14 | g.91313409G>T | CA390630101 | CCDC88C | c.2407C>A (p.Leu803Met) c.2299C>A (p.Leu767Met) n.2535C>A n.2533C>A | |
14 | g.91313410G>A | CA487829609 | CCDC88C | c.2406C>T (p.Asp802=) c.2298C>T (p.Asp766=) n.2534C>T n.2532C>T | |
14 | g.91313410G>C | CA390630103 | CCDC88C | c.2406C>G (p.Asp802Glu) c.2298C>G (p.Asp766Glu) n.2534C>G n.2532C>G | |
14 | g.91313410G>T | CA390630104 | CCDC88C | c.2406C>A (p.Asp802Glu) c.2298C>A (p.Asp766Glu) n.2534C>A n.2532C>A | |
14 | g.91313411_91313430del | CA2626130817 | CCDC88C | c.2387_2406del (p.Arg796ProfsTer?) c.2279_2298del (p.Arg760ProfsTer?) n.2515_2534del n.2513_2532del | gnomAD v4 |
14 | g.91313411T>A | CA390630105 | CCDC88C | c.2405A>T (p.Asp802Val) c.2297A>T (p.Asp766Val) n.2533A>T n.2531A>T | |
14 | g.91313411T>C | CA390630107 | CCDC88C | c.2405A>G (p.Asp802Gly) c.2297A>G (p.Asp766Gly) n.2533A>G n.2531A>G | dbSNP gnomAD v4 |
14 | g.91313411T>G | CA390630106 | CCDC88C | c.2405A>C (p.Asp802Ala) c.2297A>C (p.Asp766Ala) n.2533A>C n.2531A>C | |
14 | g.91313411T= | CA2154878815 | CCDC88C | c.2405A= (p.Asp802=) c.2297A= (p.Asp766=) n.2533A= n.2531A= | |
14 | g.91313412C>A | CA390630108 | CCDC88C | c.2404G>T (p.Asp802Tyr) c.2296G>T (p.Asp766Tyr) n.2532G>T n.2530G>T | |
14 | g.91313412C>G | CA390630110 | CCDC88C | c.2404G>C (p.Asp802His) c.2296G>C (p.Asp766His) n.2532G>C n.2530G>C | COSMIC COSMIC |
14 | g.91313412C>T | CA390630109 | CCDC88C | c.2404G>A (p.Asp802Asn) c.2296G>A (p.Asp766Asn) n.2532G>A n.2530G>A | gnomAD v4 |
14 | g.91313413C>A | CA487829612 | CCDC88C | c.2403G>T (p.Arg801=) c.2295G>T (p.Arg765=) n.2531G>T n.2529G>T | dbSNP |
14 | g.91313413C= | CA2154878818 | CCDC88C | c.2403G= (p.Arg801=) c.2295G= (p.Arg765=) n.2531G= n.2529G= | |
14 | g.91313413C>G | CA487829613 | CCDC88C | c.2403G>C (p.Arg801=) c.2295G>C (p.Arg765=) n.2531G>C n.2529G>C | |
14 | g.91313413C>T | CA487829614 | CCDC88C | c.2403G>A (p.Arg801=) c.2295G>A (p.Arg765=) n.2531G>A n.2529G>A | ClinVar dbSNP |
14 | g.91313414C>A | CA390630113 | CCDC88C | c.2402G>T (p.Arg801Leu) c.2294G>T (p.Arg765Leu) n.2530G>T n.2528G>T | gnomAD v4 |
14 | g.91313414C= | CA2154878820 | CCDC88C | c.2402G= (p.Arg801=) c.2294G= (p.Arg765=) n.2530G= n.2528G= | |
14 | g.91313414C>G | CA390630114 | CCDC88C | c.2402G>C (p.Arg801Pro) c.2294G>C (p.Arg765Pro) n.2530G>C n.2528G>C | |
14 | g.91313414C>T | CA7309664 | CCDC88C | c.2402G>A (p.Arg801Gln) c.2294G>A (p.Arg765Gln) n.2530G>A n.2528G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313415G>A | CA7309665 | CCDC88C | c.2401C>T (p.Arg801Trp) c.2293C>T (p.Arg765Trp) n.2529C>T n.2527C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313415G>C | CA390630117 | CCDC88C | c.2401C>G (p.Arg801Gly) c.2293C>G (p.Arg765Gly) n.2529C>G n.2527C>G | |
14 | g.91313415G= | CA2154878828 | CCDC88C | c.2401C= (p.Arg801=) c.2293C= (p.Arg765=) n.2529C= n.2527C= | |
14 | g.91313415G>T | CA487829615 | CCDC88C | c.2401C>A (p.Arg801=) c.2293C>A (p.Arg765=) n.2529C>A n.2527C>A | gnomAD v4 |
14 | g.91313416C>A | CA487829616 | CCDC88C | c.2400G>T (p.Arg800=) c.2292G>T (p.Arg764=) n.2528G>T n.2526G>T | |
14 | g.91313416C>G | CA487829617 | CCDC88C | c.2400G>C (p.Arg800=) c.2292G>C (p.Arg764=) n.2528G>C n.2526G>C | |
14 | g.91313416C>T | CA487829618 | CCDC88C | c.2400G>A (p.Arg800=) c.2292G>A (p.Arg764=) n.2528G>A n.2526G>A | |
14 | g.91313417C>A | CA390630119 | CCDC88C | c.2399G>T (p.Arg800Leu) c.2291G>T (p.Arg764Leu) n.2527G>T n.2525G>T | |
14 | g.91313417C= | CA2154878830 | CCDC88C | c.2399G= (p.Arg800=) c.2291G= (p.Arg764=) n.2527G= n.2525G= | |
14 | g.91313417C>G | CA390630121 | CCDC88C | c.2399G>C (p.Arg800Pro) c.2291G>C (p.Arg764Pro) n.2527G>C n.2525G>C | |
14 | g.91313417C>T | CA7309666 | CCDC88C | c.2399G>A (p.Arg800Gln) c.2291G>A (p.Arg764Gln) n.2527G>A n.2525G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313418G>A | CA7309667 | CCDC88C | c.2398C>T (p.Arg800Trp) c.2290C>T (p.Arg764Trp) n.2526C>T n.2524C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313418G>C | CA390630126 | CCDC88C | c.2398C>G (p.Arg800Gly) c.2290C>G (p.Arg764Gly) n.2526C>G n.2524C>G | |
14 | g.91313418G= | CA2154878832 | CCDC88C | c.2398C= (p.Arg800=) c.2290C= (p.Arg764=) n.2526C= n.2524C= | |
14 | g.91313418G>T | CA487829619 | CCDC88C | c.2398C>A (p.Arg800=) c.2290C>A (p.Arg764=) n.2526C>A n.2524C>A | gnomAD v4 |
14 | g.91313419C>A | CA487829620 | CCDC88C | c.2397G>T (p.Leu799=) c.2289G>T (p.Leu763=) n.2525G>T n.2523G>T | |
14 | g.91313419C>G | CA487829621 | CCDC88C | c.2397G>C (p.Leu799=) c.2289G>C (p.Leu763=) n.2525G>C n.2523G>C | |
14 | g.91313419C>T | CA487829622 | CCDC88C | c.2397G>A (p.Leu799=) c.2289G>A (p.Leu763=) n.2525G>A n.2523G>A | |
14 | g.91313420A= | CA2154878834 | CCDC88C | c.2396T= (p.Leu799=) c.2288T= (p.Leu763=) n.2524T= n.2522T= | |
14 | g.91313420A>C | CA390630128 | CCDC88C | c.2396T>G (p.Leu799Arg) c.2288T>G (p.Leu763Arg) n.2524T>G n.2522T>G | |
14 | g.91313420A>G | CA390630130 | CCDC88C | c.2396T>C (p.Leu799Pro) c.2288T>C (p.Leu763Pro) n.2524T>C n.2522T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313420A>T | CA390630132 | CCDC88C | c.2396T>A (p.Leu799Gln) c.2288T>A (p.Leu763Gln) n.2524T>A n.2522T>A | |
14 | g.91313421G>A | CA487829623 | CCDC88C | c.2395C>T (p.Leu799=) c.2287C>T (p.Leu763=) n.2523C>T n.2521C>T | dbSNP gnomAD v2 |
14 | g.91313421G>C | CA390630134 | CCDC88C | c.2395C>G (p.Leu799Val) c.2287C>G (p.Leu763Val) n.2523C>G n.2521C>G | |
14 | g.91313421G= | CA2154878837 | CCDC88C | c.2395C= (p.Leu799=) c.2287C= (p.Leu763=) n.2523C= n.2521C= | |
14 | g.91313421G>T | CA390630136 | CCDC88C | c.2395C>A (p.Leu799Met) c.2287C>A (p.Leu763Met) n.2523C>A n.2521C>A | gnomAD v4 |
14 | g.91313422C>A | CA7309668 | CCDC88C | c.2394G>T (p.Ala798=) c.2286G>T (p.Ala762=) n.2522G>T n.2520G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313422C= | CA2154878840 | CCDC88C | c.2394G= (p.Ala798=) c.2286G= (p.Ala762=) n.2522G= n.2520G= | |
14 | g.91313422C>G | CA7309670 | CCDC88C | c.2394G>C (p.Ala798=) c.2286G>C (p.Ala762=) n.2522G>C n.2520G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313422C>T | CA7309669 | CCDC88C | c.2394G>A (p.Ala798=) c.2286G>A (p.Ala762=) n.2522G>A n.2520G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313423G>A | CA7309671 | CCDC88C | c.2393C>T (p.Ala798Val) c.2285C>T (p.Ala762Val) n.2521C>T n.2519C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313423G>C | CA390630141 | CCDC88C | c.2393C>G (p.Ala798Gly) c.2285C>G (p.Ala762Gly) n.2521C>G n.2519C>G | |
14 | g.91313423G= | CA2154878846 | CCDC88C | c.2393C= (p.Ala798=) c.2285C= (p.Ala762=) n.2521C= n.2519C= | |
14 | g.91313423G>T | CA390630143 | CCDC88C | c.2393C>A (p.Ala798Glu) c.2285C>A (p.Ala762Glu) n.2521C>A n.2519C>A | gnomAD v4 |
14 | g.91313424C>A | CA390630146 | CCDC88C | c.2392G>T (p.Ala798Ser) c.2284G>T (p.Ala762Ser) n.2520G>T n.2518G>T | gnomAD v4 |
14 | g.91313424C= | CA2154878851 | CCDC88C | c.2392G= (p.Ala798=) c.2284G= (p.Ala762=) n.2520G= n.2518G= | |
14 | g.91313424C>G | CA390630147 | CCDC88C | c.2392G>C (p.Ala798Pro) c.2284G>C (p.Ala762Pro) n.2520G>C n.2518G>C | |
14 | g.91313424C>T | CA390630149 | CCDC88C | c.2392G>A (p.Ala798Thr) c.2284G>A (p.Ala762Thr) n.2520G>A n.2518G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313425C>A | CA390630151 | CCDC88C | c.2391G>T (p.Gln797His) c.2283G>T (p.Gln761His) n.2519G>T n.2517G>T | gnomAD v4 |
14 | g.91313425C= | CA2154878853 | CCDC88C | c.2391G= (p.Gln797=) c.2283G= (p.Gln761=) n.2519G= n.2517G= | |
14 | g.91313425C>G | CA390630153 | CCDC88C | c.2391G>C (p.Gln797His) c.2283G>C (p.Gln761His) n.2519G>C n.2517G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313425C>T | CA487829624 | CCDC88C | c.2391G>A (p.Gln797=) c.2283G>A (p.Gln761=) n.2519G>A n.2517G>A | gnomAD v4 |
14 | g.91313426T>A | CA390630159 | CCDC88C | c.2390A>T (p.Gln797Leu) c.2282A>T (p.Gln761Leu) n.2518A>T n.2516A>T | |
14 | g.91313426T>C | CA390630157 | CCDC88C | c.2390A>G (p.Gln797Arg) c.2282A>G (p.Gln761Arg) n.2518A>G n.2516A>G | gnomAD v4 |
14 | g.91313426T>G | CA390630155 | CCDC88C | c.2390A>C (p.Gln797Pro) c.2282A>C (p.Gln761Pro) n.2518A>C n.2516A>C | |
14 | g.91313427G>A | CA390630164 | CCDC88C | c.2389C>T (p.Gln797Ter) c.2281C>T (p.Gln761Ter) n.2517C>T n.2515C>T | |
14 | g.91313427G>C | CA390630161 | CCDC88C | c.2389C>G (p.Gln797Glu) c.2281C>G (p.Gln761Glu) n.2517C>G n.2515C>G | |
14 | g.91313427G>T | CA390630163 | CCDC88C | c.2389C>A (p.Gln797Lys) c.2281C>A (p.Gln761Lys) n.2517C>A n.2515C>A | gnomAD v4 |
14 | g.91313428G>A | CA487829625 | CCDC88C | c.2388C>T (p.Arg796=) c.2280C>T (p.Arg760=) n.2516C>T n.2514C>T | |
14 | g.91313428G>C | CA487829627 | CCDC88C | c.2388C>G (p.Arg796=) c.2280C>G (p.Arg760=) n.2516C>G n.2514C>G | |
14 | g.91313428G>T | CA487829626 | CCDC88C | c.2388C>A (p.Arg796=) c.2280C>A (p.Arg760=) n.2516C>A n.2514C>A | ClinVar gnomAD v4 |
14 | g.91313429C>A | CA390630166 | CCDC88C | c.2387G>T (p.Arg796Leu) c.2279G>T (p.Arg760Leu) n.2515G>T n.2513G>T | |
14 | g.91313429C= | CA2154878856 | CCDC88C | c.2387G= (p.Arg796=) c.2279G= (p.Arg760=) n.2515G= n.2513G= | |
14 | g.91313429C>G | CA7309673 | CCDC88C | c.2387G>C (p.Arg796Pro) c.2279G>C (p.Arg760Pro) n.2515G>C n.2513G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313429C>T | CA7309672 | CCDC88C | c.2387G>A (p.Arg796His) c.2279G>A (p.Arg760His) n.2515G>A n.2513G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313430G>A | CA7309674 | CCDC88C | c.2386C>T (p.Arg796Cys) c.2278C>T (p.Arg760Cys) n.2514C>T n.2512C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313430G>C | CA390630171 | CCDC88C | c.2386C>G (p.Arg796Gly) c.2278C>G (p.Arg760Gly) n.2514C>G n.2512C>G | |
14 | g.91313430G= | CA2154878859 | CCDC88C | c.2386C= (p.Arg796=) c.2278C= (p.Arg760=) n.2514C= n.2512C= | |
14 | g.91313430G>T | CA390630173 | CCDC88C | c.2386C>A (p.Arg796Ser) c.2278C>A (p.Arg760Ser) n.2514C>A n.2512C>A | gnomAD v4 |
14 | g.91313431C>A | CA390630175 | CCDC88C | c.2385G>T (p.Glu795Asp) c.2277G>T (p.Glu759Asp) n.2513G>T n.2511G>T | |
14 | g.91313431C= | CA2154878863 | CCDC88C | c.2385G= (p.Glu795=) c.2277G= (p.Glu759=) n.2513G= n.2511G= | |
14 | g.91313431C>G | CA390630176 | CCDC88C | c.2385G>C (p.Glu795Asp) c.2277G>C (p.Glu759Asp) n.2513G>C n.2511G>C | |
14 | g.91313431C>T | CA487829628 | CCDC88C | c.2385G>A (p.Glu795=) c.2277G>A (p.Glu759=) n.2513G>A n.2511G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313432T>A | CA390630179 | CCDC88C | c.2384A>T (p.Glu795Val) c.2276A>T (p.Glu759Val) n.2512A>T n.2510A>T | |
14 | g.91313432T>C | CA390630180 | CCDC88C | c.2384A>G (p.Glu795Gly) c.2276A>G (p.Glu759Gly) n.2512A>G n.2510A>G | |
14 | g.91313432T>G | CA390630182 | CCDC88C | c.2384A>C (p.Glu795Ala) c.2276A>C (p.Glu759Ala) n.2512A>C n.2510A>C | |
14 | g.91313433C>A | CA390630187 | CCDC88C | c.2383G>T (p.Glu795Ter) c.2275G>T (p.Glu759Ter) n.2511G>T n.2509G>T | |
14 | g.91313433C>G | CA390630184 | CCDC88C | c.2383G>C (p.Glu795Gln) c.2275G>C (p.Glu759Gln) n.2511G>C n.2509G>C | |
14 | g.91313433C>T | CA390630186 | CCDC88C | c.2383G>A (p.Glu795Lys) c.2275G>A (p.Glu759Lys) n.2511G>A n.2509G>A | |
14 | g.91313434A= | CA2154878865 | CCDC88C | c.2382T= (p.Ala794=) c.2274T= (p.Ala758=) n.2510T= n.2508T= | |
14 | g.91313434A>C | CA487829629 | CCDC88C | c.2382T>G (p.Ala794=) c.2274T>G (p.Ala758=) n.2510T>G n.2508T>G | |
14 | g.91313434A>G | CA7309675 | CCDC88C | c.2382T>C (p.Ala794=) c.2274T>C (p.Ala758=) n.2510T>C n.2508T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313434A>T | CA487829630 | CCDC88C | c.2382T>A (p.Ala794=) c.2274T>A (p.Ala758=) n.2510T>A n.2508T>A | |
14 | g.91313435G>A | CA390630189 | CCDC88C | c.2381C>T (p.Ala794Val) c.2273C>T (p.Ala758Val) n.2509C>T n.2507C>T | COSMIC COSMIC |
14 | g.91313435G>C | CA390630191 | CCDC88C | c.2381C>G (p.Ala794Gly) c.2273C>G (p.Ala758Gly) n.2509C>G n.2507C>G | dbSNP |
14 | g.91313435G= | CA2154878867 | CCDC88C | c.2381C= (p.Ala794=) c.2273C= (p.Ala758=) n.2509C= n.2507C= | |
14 | g.91313435G>T | CA390630193 | CCDC88C | c.2381C>A (p.Ala794Asp) c.2273C>A (p.Ala758Asp) n.2509C>A n.2507C>A | gnomAD v4 |
14 | g.91313436C>A | CA390630195 | CCDC88C | c.2380G>T (p.Ala794Ser) c.2272G>T (p.Ala758Ser) n.2508G>T n.2506G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313436C= | CA2154878869 | CCDC88C | c.2380G= (p.Ala794=) c.2272G= (p.Ala758=) n.2508G= n.2506G= | |
14 | g.91313436C>G | CA390630197 | CCDC88C | c.2380G>C (p.Ala794Pro) c.2272G>C (p.Ala758Pro) n.2508G>C n.2506G>C | |
14 | g.91313436C>T | CA390630199 | CCDC88C | c.2380G>A (p.Ala794Thr) c.2272G>A (p.Ala758Thr) n.2508G>A n.2506G>A | gnomAD v4 |
14 | g.91313437C>A | CA390630201 | CCDC88C | c.2379G>T (p.Glu793Asp) c.2271G>T (p.Glu757Asp) n.2507G>T n.2505G>T | |
14 | g.91313437C>G | CA390630202 | CCDC88C | c.2379G>C (p.Glu793Asp) c.2271G>C (p.Glu757Asp) n.2507G>C n.2505G>C | |
14 | g.91313437C>T | CA487829679 | CCDC88C | c.2379G>A (p.Glu793=) c.2271G>A (p.Glu757=) n.2507G>A n.2505G>A | |
14 | g.91313438del | CA645592830 | CCDC88C | c.2378del (p.Glu793GlyfsTer?) c.2270del (p.Glu757GlyfsTer?) n.2506del n.2504del | COSMIC COSMIC |
14 | g.91313438T>A | CA390630205 | CCDC88C | c.2378A>T (p.Glu793Val) c.2270A>T (p.Glu757Val) n.2506A>T n.2504A>T | |
14 | g.91313438T>C | CA390630207 | CCDC88C | c.2378A>G (p.Glu793Gly) c.2270A>G (p.Glu757Gly) n.2506A>G n.2504A>G | gnomAD v4 |
14 | g.91313438T>G | CA390630208 | CCDC88C | c.2378A>C (p.Glu793Ala) c.2270A>C (p.Glu757Ala) n.2506A>C n.2504A>C | |
14 | g.91313439C>A | CA390630213 | CCDC88C | c.2377G>T (p.Glu793Ter) c.2269G>T (p.Glu757Ter) n.2505G>T n.2503G>T | |
14 | g.91313439C>G | CA390630214 | CCDC88C | c.2377G>C (p.Glu793Gln) c.2269G>C (p.Glu757Gln) n.2505G>C n.2503G>C | |
14 | g.91313439C>T | CA390630211 | CCDC88C | c.2377G>A (p.Glu793Lys) c.2269G>A (p.Glu757Lys) n.2505G>A n.2503G>A | |
14 | g.91313440C>A | CA487829681 | CCDC88C | c.2376G>T (p.Leu792=) c.2268G>T (p.Leu756=) n.2504G>T n.2502G>T | |
14 | g.91313440C>G | CA487829682 | CCDC88C | c.2376G>C (p.Leu792=) c.2268G>C (p.Leu756=) n.2504G>C n.2502G>C | |
14 | g.91313440C>T | CA487829683 | CCDC88C | c.2376G>A (p.Leu792=) c.2268G>A (p.Leu756=) n.2504G>A n.2502G>A | COSMIC COSMIC |
14 | g.91313441del | CA2626130890 | CCDC88C | c.2375del (p.Leu792ArgfsTer?) c.2267del (p.Leu756ArgfsTer?) n.2503del n.2501del | gnomAD v4 |
14 | g.91313441A= | CA2154878872 | CCDC88C | c.2375T= (p.Leu792=) c.2267T= (p.Leu756=) n.2503T= n.2501T= | |
14 | g.91313441A>C | CA390630217 | CCDC88C | c.2375T>G (p.Leu792Arg) c.2267T>G (p.Leu756Arg) n.2503T>G n.2501T>G | |
14 | g.91313441A>G | CA390630220 | CCDC88C | c.2375T>C (p.Leu792Pro) c.2267T>C (p.Leu756Pro) n.2503T>C n.2501T>C | dbSNP gnomAD v4 |
14 | g.91313441A>T | CA390630219 | CCDC88C | c.2375T>A (p.Leu792Gln) c.2267T>A (p.Leu756Gln) n.2503T>A n.2501T>A | |
14 | g.91313441_91313442insACCAA | CA2802582089 | CCDC88C | c.2375_2376insTGGTT (p.Glu793GlyfsTer?) c.2267_2268insTGGTT (p.Glu757GlyfsTer?) n.2503_2504insTGGTT n.2501_2502insTGGTT | |
14 | g.91313442G>A | CA7309676 | CCDC88C | c.2374C>T (p.Leu792=) c.2266C>T (p.Leu756=) n.2502C>T n.2500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313442G>C | CA390630224 | CCDC88C | c.2374C>G (p.Leu792Val) c.2266C>G (p.Leu756Val) n.2502C>G n.2500C>G | |
14 | g.91313442G= | CA2154878874 | CCDC88C | c.2374C= (p.Leu792=) c.2266C= (p.Leu756=) n.2502C= n.2500C= | |
14 | g.91313442G>T | CA390630225 | CCDC88C | c.2374C>A (p.Leu792Met) c.2266C>A (p.Leu756Met) n.2502C>A n.2500C>A | gnomAD v4 |
14 | g.91313443C>A | CA390630226 | CCDC88C | c.2373G>T (p.Glu791Asp) c.2265G>T (p.Glu755Asp) n.2501G>T n.2499G>T | |
14 | g.91313443C>G | CA390630228 | CCDC88C | c.2373G>C (p.Glu791Asp) c.2265G>C (p.Glu755Asp) n.2501G>C n.2499G>C | |
14 | g.91313443C>T | CA487829685 | CCDC88C | c.2373G>A (p.Glu791=) c.2265G>A (p.Glu755=) n.2501G>A n.2499G>A | ClinVar gnomAD v4 |
14 | g.91313444T>A | CA390630231 | CCDC88C | c.2372A>T (p.Glu791Val) c.2264A>T (p.Glu755Val) n.2500A>T n.2498A>T | |
14 | g.91313444T>C | CA390630233 | CCDC88C | c.2372A>G (p.Glu791Gly) c.2264A>G (p.Glu755Gly) n.2500A>G n.2498A>G | |
14 | g.91313444T>G | CA390630235 | CCDC88C | c.2372A>C (p.Glu791Ala) c.2264A>C (p.Glu755Ala) n.2500A>C n.2498A>C | |
14 | g.91313445C>A | CA390630238 | CCDC88C | c.2371G>T (p.Glu791Ter) c.2263G>T (p.Glu755Ter) n.2499G>T n.2497G>T | gnomAD v4 |
14 | g.91313445C= | CA2154878876 | CCDC88C | c.2371G= (p.Glu791=) c.2263G= (p.Glu755=) n.2499G= n.2497G= | |
14 | g.91313445C>G | CA390630240 | CCDC88C | c.2371G>C (p.Glu791Gln) c.2263G>C (p.Glu755Gln) n.2499G>C n.2497G>C | |
14 | g.91313445C>T | CA7309677 | CCDC88C | c.2371G>A (p.Glu791Lys) c.2263G>A (p.Glu755Lys) n.2499G>A n.2497G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313446G>A | CA7309678 | CCDC88C | c.2370C>T (p.Gly790=) c.2262C>T (p.Gly754=) n.2498C>T n.2496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313446G>C | CA487829689 | CCDC88C | c.2370C>G (p.Gly790=) c.2262C>G (p.Gly754=) n.2498C>G n.2496C>G | |
14 | g.91313446G= | CA2154878882 | CCDC88C | c.2370C= (p.Gly790=) c.2262C= (p.Gly754=) n.2498C= n.2496C= | |
14 | g.91313446G>T | CA487829692 | CCDC88C | c.2370C>A (p.Gly790=) c.2262C>A (p.Gly754=) n.2498C>A n.2496C>A | gnomAD v4 |
14 | g.91313447C>A | CA390630246 | CCDC88C | c.2369G>T (p.Gly790Val) c.2261G>T (p.Gly754Val) n.2497G>T n.2495G>T | |
14 | g.91313447C= | CA2154878888 | CCDC88C | c.2369G= (p.Gly790=) c.2261G= (p.Gly754=) n.2497G= n.2495G= | |
14 | g.91313447C>G | CA390630243 | CCDC88C | c.2369G>C (p.Gly790Ala) c.2261G>C (p.Gly754Ala) n.2497G>C n.2495G>C | gnomAD v4 |
14 | g.91313447C>T | CA265569825 | CCDC88C | c.2369G>A (p.Gly790Asp) c.2261G>A (p.Gly754Asp) n.2497G>A n.2495G>A | dbSNP gnomAD v4 |
14 | g.91313448C>A | CA390630248 | CCDC88C | c.2368G>T (p.Gly790Cys) c.2260G>T (p.Gly754Cys) n.2496G>T n.2494G>T | |
14 | g.91313448C= | CA2154878891 | CCDC88C | c.2368G= (p.Gly790=) c.2260G= (p.Gly754=) n.2496G= n.2494G= | |
14 | g.91313448C>G | CA390630250 | CCDC88C | c.2368G>C (p.Gly790Arg) c.2260G>C (p.Gly754Arg) n.2496G>C n.2494G>C | |
14 | g.91313448C>T | CA265569826 | CCDC88C | c.2368G>A (p.Gly790Ser) c.2260G>A (p.Gly754Ser) n.2496G>A n.2494G>A | dbSNP gnomAD v4 |
14 | g.91313449C>A | CA487829696 | CCDC88C | c.2367G>T (p.Leu789=) c.2259G>T (p.Leu753=) n.2495G>T n.2493G>T | |
14 | g.91313449C= | CA2154878898 | CCDC88C | c.2367G= (p.Leu789=) c.2259G= (p.Leu753=) n.2495G= n.2493G= | |
14 | g.91313449C>G | CA7309680 | CCDC88C | c.2367G>C (p.Leu789=) c.2259G>C (p.Leu753=) n.2495G>C n.2493G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313449C>T | CA7309679 | CCDC88C | c.2367G>A (p.Leu789=) c.2259G>A (p.Leu753=) n.2495G>A n.2493G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313450A>C | CA390630255 | CCDC88C | c.2366T>G (p.Leu789Arg) c.2258T>G (p.Leu753Arg) n.2494T>G n.2492T>G | |
14 | g.91313450A>G | CA390630257 | CCDC88C | c.2366T>C (p.Leu789Pro) c.2258T>C (p.Leu753Pro) n.2494T>C n.2492T>C | |
14 | g.91313450A>T | CA390630259 | CCDC88C | c.2366T>A (p.Leu789Gln) c.2258T>A (p.Leu753Gln) n.2494T>A n.2492T>A | |
14 | g.91313451G>A | CA7309682 | CCDC88C | c.2365C>T (p.Leu789=) c.2257C>T (p.Leu753=) n.2493C>T n.2491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313451G>C | CA7309681 | CCDC88C | c.2365C>G (p.Leu789Val) c.2257C>G (p.Leu753Val) n.2493C>G n.2491C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313451G= | CA2154878900 | CCDC88C | c.2365C= (p.Leu789=) c.2257C= (p.Leu753=) n.2493C= n.2491C= | |
14 | g.91313451G>T | CA390630263 | CCDC88C | c.2365C>A (p.Leu789Met) c.2257C>A (p.Leu753Met) n.2493C>A n.2491C>A | gnomAD v4 |
14 | g.91313452C>A | CA390630265 | CCDC88C | c.2364G>T (p.Glu788Asp) c.2256G>T (p.Glu752Asp) n.2492G>T n.2490G>T | |
14 | g.91313452C= | CA2154878902 | CCDC88C | c.2364G= (p.Glu788=) c.2256G= (p.Glu752=) n.2492G= n.2490G= | |
14 | g.91313452C>G | CA390630266 | CCDC88C | c.2364G>C (p.Glu788Asp) c.2256G>C (p.Glu752Asp) n.2492G>C n.2490G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313452C>T | CA487829700 | CCDC88C | c.2364G>A (p.Glu788=) c.2256G>A (p.Glu752=) n.2492G>A n.2490G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313453T>A | CA390630269 | CCDC88C | c.2363A>T (p.Glu788Val) c.2255A>T (p.Glu752Val) n.2491A>T n.2489A>T | |
14 | g.91313453T>C | CA390630270 | CCDC88C | c.2363A>G (p.Glu788Gly) c.2255A>G (p.Glu752Gly) n.2491A>G n.2489A>G | dbSNP gnomAD v4 |
14 | g.91313453T>G | CA390630271 | CCDC88C | c.2363A>C (p.Glu788Ala) c.2255A>C (p.Glu752Ala) n.2491A>C n.2489A>C | |
14 | g.91313453T= | CA2154878905 | CCDC88C | c.2363A= (p.Glu788=) c.2255A= (p.Glu752=) n.2491A= n.2489A= | |
14 | g.91313454C>A | CA390630273 | CCDC88C | c.2362G>T (p.Glu788Ter) c.2254G>T (p.Glu752Ter) n.2490G>T n.2488G>T | gnomAD v4 |
14 | g.91313454C= | CA2154878907 | CCDC88C | c.2362G= (p.Glu788=) c.2254G= (p.Glu752=) n.2490G= n.2488G= | |
14 | g.91313454C>G | CA7309683 | CCDC88C | c.2362G>C (p.Glu788Gln) c.2254G>C (p.Glu752Gln) n.2490G>C n.2488G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313454C>T | CA390630276 | CCDC88C | c.2362G>A (p.Glu788Lys) c.2254G>A (p.Glu752Lys) n.2490G>A n.2488G>A | |
14 | g.91313455A>C | CA390630278 | CCDC88C | c.2361T>G (p.Ser787Arg) c.2253T>G (p.Ser751Arg) n.2489T>G n.2487T>G | |
14 | g.91313455A>G | CA487829702 | CCDC88C | c.2361T>C (p.Ser787=) c.2253T>C (p.Ser751=) n.2489T>C n.2487T>C | gnomAD v4 |
14 | g.91313455A>T | CA390630279 | CCDC88C | c.2361T>A (p.Ser787Arg) c.2253T>A (p.Ser751Arg) n.2489T>A n.2487T>A | |
14 | g.91313456C>A | CA390630280 | CCDC88C | c.2360G>T (p.Ser787Ile) c.2252G>T (p.Ser751Ile) n.2488G>T n.2486G>T | |
14 | g.91313456C>G | CA390630281 | CCDC88C | c.2360G>C (p.Ser787Thr) c.2252G>C (p.Ser751Thr) n.2488G>C n.2486G>C | |
14 | g.91313456C>T | CA390630282 | CCDC88C | c.2360G>A (p.Ser787Asn) c.2252G>A (p.Ser751Asn) n.2488G>A n.2486G>A | gnomAD v4 |
14 | g.91313457T>A | CA390630283 | CCDC88C | c.2359A>T (p.Ser787Cys) c.2251A>T (p.Ser751Cys) n.2487A>T n.2485A>T | |
14 | g.91313457T>C | CA265569864 | CCDC88C | c.2359A>G (p.Ser787Gly) c.2251A>G (p.Ser751Gly) n.2487A>G n.2485A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313457T>G | CA390630286 | CCDC88C | c.2359A>C (p.Ser787Arg) c.2251A>C (p.Ser751Arg) n.2487A>C n.2485A>C | |
14 | g.91313457T= | CA2154878909 | CCDC88C | c.2359A= (p.Ser787=) c.2251A= (p.Ser751=) n.2487A= n.2485A= | |
14 | g.91313458C>A | CA390630288 | CCDC88C | c.2358G>T (p.Glu786Asp) c.2250G>T (p.Glu750Asp) n.2486G>T n.2484G>T | |
14 | g.91313458C= | CA2154878911 | CCDC88C | c.2358G= (p.Glu786=) c.2250G= (p.Glu750=) n.2486G= n.2484G= | |
14 | g.91313458C>G | CA7309684 | CCDC88C | c.2358G>C (p.Glu786Asp) c.2250G>C (p.Glu750Asp) n.2486G>C n.2484G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313458C>T | CA487829704 | CCDC88C | c.2358G>A (p.Glu786=) c.2250G>A (p.Glu750=) n.2486G>A n.2484G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313459T>A | CA390630291 | CCDC88C | c.2357A>T (p.Glu786Val) c.2249A>T (p.Glu750Val) n.2485A>T n.2483A>T | |
14 | g.91313459T>C | CA390630293 | CCDC88C | c.2357A>G (p.Glu786Gly) c.2249A>G (p.Glu750Gly) n.2485A>G n.2483A>G | gnomAD v4 |
14 | g.91313459T>G | CA390630294 | CCDC88C | c.2357A>C (p.Glu786Ala) c.2249A>C (p.Glu750Ala) n.2485A>C n.2483A>C | |
14 | g.91313460C>A | CA390630297 | CCDC88C | c.2356G>T (p.Glu786Ter) c.2248G>T (p.Glu750Ter) n.2484G>T n.2482G>T | |
14 | g.91313460C= | CA2154878914 | CCDC88C | c.2356G= (p.Glu786=) c.2248G= (p.Glu750=) n.2484G= n.2482G= | |
14 | g.91313460C>G | CA390630299 | CCDC88C | c.2356G>C (p.Glu786Gln) c.2248G>C (p.Glu750Gln) n.2484G>C n.2482G>C | gnomAD v4 |
14 | g.91313460C>T | CA390630300 | CCDC88C | c.2356G>A (p.Glu786Lys) c.2248G>A (p.Glu750Lys) n.2484G>A n.2482G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313461C>A | CA390630303 | CCDC88C | c.2355G>T (p.Leu785Phe) c.2247G>T (p.Leu749Phe) n.2483G>T n.2481G>T | |
14 | g.91313461C= | CA2154878917 | CCDC88C | c.2355G= (p.Leu785=) c.2247G= (p.Leu749=) n.2483G= n.2481G= | |
14 | g.91313461C>G | CA390630305 | CCDC88C | c.2355G>C (p.Leu785Phe) c.2247G>C (p.Leu749Phe) n.2483G>C n.2481G>C | |
14 | g.91313461C>T | CA7309685 | CCDC88C | c.2355G>A (p.Leu785=) c.2247G>A (p.Leu749=) n.2483G>A n.2481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313462A>C | CA390630306 | CCDC88C | c.2354T>G (p.Leu785Trp) c.2246T>G (p.Leu749Trp) n.2482T>G n.2480T>G | |
14 | g.91313462A>G | CA390630308 | CCDC88C | c.2354T>C (p.Leu785Ser) c.2246T>C (p.Leu749Ser) n.2482T>C n.2480T>C | |
14 | g.91313462A>T | CA390630310 | CCDC88C | c.2354T>A (p.Leu785Ter) c.2246T>A (p.Leu749Ter) n.2482T>A n.2480T>A | |
14 | g.91313463A>C | CA390630313 | CCDC88C | c.2353T>G (p.Leu785Val) c.2245T>G (p.Leu749Val) n.2481T>G n.2479T>G | |
14 | g.91313463A>G | CA487829710 | CCDC88C | c.2353T>C (p.Leu785=) c.2245T>C (p.Leu749=) n.2481T>C n.2479T>C | |
14 | g.91313463A>T | CA390630312 | CCDC88C | c.2353T>A (p.Leu785Met) c.2245T>A (p.Leu749Met) n.2481T>A n.2479T>A | |
14 | g.91313464G>A | CA265569896 | CCDC88C | c.2352C>T (p.Thr784=) c.2244C>T (p.Thr748=) n.2480C>T n.2478C>T | dbSNP |
14 | g.91313464G>C | CA487829712 | CCDC88C | c.2352C>G (p.Thr784=) c.2244C>G (p.Thr748=) n.2480C>G n.2478C>G | |
14 | g.91313464G= | CA2154878919 | CCDC88C | c.2352C= (p.Thr784=) c.2244C= (p.Thr748=) n.2480C= n.2478C= | |
14 | g.91313464G>T | CA487829713 | CCDC88C | c.2352C>A (p.Thr784=) c.2244C>A (p.Thr748=) n.2480C>A n.2478C>A | gnomAD v4 |
14 | g.91313465_91313494del | CA2626131002 | CCDC88C | c.2323_2352del (p.Leu775_Thr784del) c.2215_2244del (p.Leu739_Thr748del) n.2451_2480del n.2449_2478del | gnomAD v4 |
14 | g.91313465G>A | CA390630315 | CCDC88C | c.2351C>T (p.Thr784Ile) c.2243C>T (p.Thr748Ile) n.2479C>T n.2477C>T | |
14 | g.91313465G>C | CA390630318 | CCDC88C | c.2351C>G (p.Thr784Ser) c.2243C>G (p.Thr748Ser) n.2479C>G n.2477C>G | |
14 | g.91313465G= | CA2154878922 | CCDC88C | c.2351C= (p.Thr784=) c.2243C= (p.Thr748=) n.2479C= n.2477C= | |
14 | g.91313465G>T | CA265569899 | CCDC88C | c.2351C>A (p.Thr784Asn) c.2243C>A (p.Thr748Asn) n.2479C>A n.2477C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313466T>A | CA390630319 | CCDC88C | c.2350A>T (p.Thr784Ser) c.2242A>T (p.Thr748Ser) n.2478A>T n.2476A>T | |
14 | g.91313466T>C | CA390630323 | CCDC88C | c.2350A>G (p.Thr784Ala) c.2242A>G (p.Thr748Ala) n.2478A>G n.2476A>G | |
14 | g.91313466T>G | CA390630321 | CCDC88C | c.2350A>C (p.Thr784Pro) c.2242A>C (p.Thr748Pro) n.2478A>C n.2476A>C | |
14 | g.91313467C>A | CA390630325 | CCDC88C | c.2349G>T (p.Gln783His) c.2241G>T (p.Gln747His) n.2477G>T n.2475G>T | |
14 | g.91313467C= | CA2154878925 | CCDC88C | c.2349G= (p.Gln783=) c.2241G= (p.Gln747=) n.2477G= n.2475G= | |
14 | g.91313467C>G | CA390630327 | CCDC88C | c.2349G>C (p.Gln783His) c.2241G>C (p.Gln747His) n.2477G>C n.2475G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313467C>T | CA487829715 | CCDC88C | c.2349G>A (p.Gln783=) c.2241G>A (p.Gln747=) n.2477G>A n.2475G>A | |
14 | g.91313468T>A | CA390630329 | CCDC88C | c.2348A>T (p.Gln783Leu) c.2240A>T (p.Gln747Leu) n.2476A>T n.2474A>T | |
14 | g.91313468T>C | CA390630331 | CCDC88C | c.2348A>G (p.Gln783Arg) c.2240A>G (p.Gln747Arg) n.2476A>G n.2474A>G | gnomAD v4 |
14 | g.91313468T>G | CA390630332 | CCDC88C | c.2348A>C (p.Gln783Pro) c.2240A>C (p.Gln747Pro) n.2476A>C n.2474A>C | gnomAD v4 |
14 | g.91313469G>A | CA390630334 | CCDC88C | c.2347C>T (p.Gln783Ter) c.2239C>T (p.Gln747Ter) n.2475C>T n.2473C>T | |
14 | g.91313469G>C | CA390630336 | CCDC88C | c.2347C>G (p.Gln783Glu) c.2239C>G (p.Gln747Glu) n.2475C>G n.2473C>G | |
14 | g.91313469G>T | CA390630338 | CCDC88C | c.2347C>A (p.Gln783Lys) c.2239C>A (p.Gln747Lys) n.2475C>A n.2473C>A | gnomAD v4 COSMIC COSMIC |
14 | g.91313470C>A | CA487829717 | CCDC88C | c.2346G>T (p.Thr782=) c.2238G>T (p.Thr746=) n.2474G>T n.2472G>T | gnomAD v4 |
14 | g.91313470C= | CA2154878929 | CCDC88C | c.2346G= (p.Thr782=) c.2238G= (p.Thr746=) n.2474G= n.2472G= | |
14 | g.91313470C>G | CA487829720 | CCDC88C | c.2346G>C (p.Thr782=) c.2238G>C (p.Thr746=) n.2474G>C n.2472G>C | |
14 | g.91313470C>T | CA7309686 | CCDC88C | c.2346G>A (p.Thr782=) c.2238G>A (p.Thr746=) n.2474G>A n.2472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313471G>A | CA7309687 | CCDC88C | c.2345C>T (p.Thr782Met) c.2237C>T (p.Thr746Met) n.2473C>T n.2471C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313471G>C | CA390630343 | CCDC88C | c.2345C>G (p.Thr782Arg) c.2237C>G (p.Thr746Arg) n.2473C>G n.2471C>G | |
14 | g.91313471G= | CA2154878931 | CCDC88C | c.2345C= (p.Thr782=) c.2237C= (p.Thr746=) n.2473C= n.2471C= | |
14 | g.91313471G>T | CA390630345 | CCDC88C | c.2345C>A (p.Thr782Lys) c.2237C>A (p.Thr746Lys) n.2473C>A n.2471C>A | gnomAD v4 |
14 | g.91313472T>A | CA7309688 | CCDC88C | c.2344A>T (p.Thr782Ser) c.2236A>T (p.Thr746Ser) n.2472A>T n.2470A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313472T>C | CA390630348 | CCDC88C | c.2344A>G (p.Thr782Ala) c.2236A>G (p.Thr746Ala) n.2472A>G n.2470A>G | dbSNP gnomAD v4 |
14 | g.91313472T>G | CA390630349 | CCDC88C | c.2344A>C (p.Thr782Pro) c.2236A>C (p.Thr746Pro) n.2472A>C n.2470A>C | |
14 | g.91313472T= | CA2154878938 | CCDC88C | c.2344A= (p.Thr782=) c.2236A= (p.Thr746=) n.2472A= n.2470A= | |
14 | g.91313473C>A | CA390630353 | CCDC88C | c.2343G>T (p.Lys781Asn) c.2235G>T (p.Lys745Asn) n.2471G>T n.2469G>T | |
14 | g.91313473C= | CA2154878940 | CCDC88C | c.2343G= (p.Lys781=) c.2235G= (p.Lys745=) n.2471G= n.2469G= | |
14 | g.91313473C>G | CA390630354 | CCDC88C | c.2343G>C (p.Lys781Asn) c.2235G>C (p.Lys745Asn) n.2471G>C n.2469G>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.91313473C>T | CA487829725 | CCDC88C | c.2343G>A (p.Lys781=) c.2235G>A (p.Lys745=) n.2471G>A n.2469G>A | |
14 | g.91313474T>A | CA390630357 | CCDC88C | c.2342A>T (p.Lys781Met) c.2234A>T (p.Lys745Met) n.2470A>T n.2468A>T | |
14 | g.91313474T>C | CA390630359 | CCDC88C | c.2342A>G (p.Lys781Arg) c.2234A>G (p.Lys745Arg) n.2470A>G n.2468A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313474T>G | CA390630360 | CCDC88C | c.2342A>C (p.Lys781Thr) c.2234A>C (p.Lys745Thr) n.2470A>C n.2468A>C | |
14 | g.91313474T= | CA2154878944 | CCDC88C | c.2342A= (p.Lys781=) c.2234A= (p.Lys745=) n.2470A= n.2468A= |