Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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= | |
14 | g.91313475T>A | CA390630362 | CCDC88C | c.2341A>T (p.Lys781Ter) c.2233A>T (p.Lys745Ter) n.2469A>T n.2467A>T | |
14 | g.91313475T>C | CA390630363 | CCDC88C | c.2341A>G (p.Lys781Glu) c.2233A>G (p.Lys745Glu) n.2469A>G n.2467A>G | gnomAD v4 |
14 | g.91313475T>G | CA390630365 | CCDC88C | c.2341A>C (p.Lys781Gln) c.2233A>C (p.Lys745Gln) n.2469A>C n.2467A>C | |
14 | g.91313476G>A | CA487829726 | CCDC88C | c.2340C>T (p.His780=) c.2232C>T (p.His744=) n.2468C>T n.2466C>T | |
14 | g.91313476G>C | CA390630366 | CCDC88C | c.2340C>G (p.His780Gln) c.2232C>G (p.His744Gln) n.2468C>G n.2466C>G | |
14 | g.91313476G>T | CA390630368 | CCDC88C | c.2340C>A (p.His780Gln) c.2232C>A (p.His744Gln) n.2468C>A n.2466C>A | gnomAD v4 |
14 | g.91313477T>A | CA390630375 | CCDC88C | c.2339A>T (p.His780Leu) c.2231A>T (p.His744Leu) n.2467A>T n.2465A>T | |
14 | g.91313477T>C | CA390630372 | CCDC88C | c.2339A>G (p.His780Arg) c.2231A>G (p.His744Arg) n.2467A>G n.2465A>G | |
14 | g.91313477T>G | CA390630371 | CCDC88C | c.2339A>C (p.His780Pro) c.2231A>C (p.His744Pro) n.2467A>C n.2465A>C | |
14 | g.91313478G>A | CA390630378 | CCDC88C | c.2338C>T (p.His780Tyr) c.2230C>T (p.His744Tyr) n.2466C>T n.2464C>T | |
14 | g.91313478G>C | CA390630380 | CCDC88C | c.2338C>G (p.His780Asp) c.2230C>G (p.His744Asp) n.2466C>G n.2464C>G | |
14 | g.91313478G>T | CA390630382 | CCDC88C | c.2338C>A (p.His780Asn) c.2230C>A (p.His744Asn) n.2466C>A n.2464C>A | gnomAD v4 |
14 | g.91313479G>A | CA487829729 | CCDC88C | c.2337C>T (p.Ser779=) c.2229C>T (p.Ser743=) n.2465C>T n.2463C>T | |
14 | g.91313479G>C | CA390630383 | CCDC88C | c.2337C>G (p.Ser779Arg) c.2229C>G (p.Ser743Arg) n.2465C>G n.2463C>G | |
14 | g.91313479G>T | CA390630385 | CCDC88C | c.2337C>A (p.Ser779Arg) c.2229C>A (p.Ser743Arg) n.2465C>A n.2463C>A | |
14 | g.91313479_91313495dup | CA2626131020 | CCDC88C | c.2321_2337dup (p.His780AlafsTer?) c.2213_2229dup (p.His744AlafsTer?) n.2449_2465dup n.2447_2463dup | gnomAD v4 |
14 | g.91313480C>A | CA390630387 | CCDC88C | c.2336G>T (p.Ser779Ile) c.2228G>T (p.Ser743Ile) n.2464G>T n.2462G>T | |
14 | g.91313480C>G | CA390630389 | CCDC88C | c.2336G>C (p.Ser779Thr) c.2228G>C (p.Ser743Thr) n.2464G>C n.2462G>C | |
14 | g.91313480C>T | CA390630390 | CCDC88C | c.2336G>A (p.Ser779Asn) c.2228G>A (p.Ser743Asn) n.2464G>A n.2462G>A | |
14 | g.91313481T>A | CA390630393 | CCDC88C | c.2335A>T (p.Ser779Cys) c.2227A>T (p.Ser743Cys) n.2463A>T n.2461A>T | |
14 | g.91313481T>C | CA390630395 | CCDC88C | c.2335A>G (p.Ser779Gly) c.2227A>G (p.Ser743Gly) n.2463A>G n.2461A>G | gnomAD v4 |
14 | g.91313481T>G | CA390630396 | CCDC88C | c.2335A>C (p.Ser779Arg) c.2227A>C (p.Ser743Arg) n.2463A>C n.2461A>C | |
14 | g.91313482G>A | CA487829732 | CCDC88C | c.2334C>T (p.Ser778=) c.2226C>T (p.Ser742=) n.2462C>T n.2460C>T | gnomAD v4 |
14 | g.91313482G>C | CA390630399 | CCDC88C | c.2334C>G (p.Ser778Arg) c.2226C>G (p.Ser742Arg) n.2462C>G n.2460C>G | |
14 | g.91313482G>T | CA390630400 | CCDC88C | c.2334C>A (p.Ser778Arg) c.2226C>A (p.Ser742Arg) n.2462C>A n.2460C>A | gnomAD v4 |
14 | g.91313483C>A | CA390630402 | CCDC88C | c.2333G>T (p.Ser778Ile) c.2225G>T (p.Ser742Ile) n.2461G>T n.2459G>T | |
14 | g.91313483C= | CA2154878947 | CCDC88C | c.2333G= (p.Ser778=) c.2225G= (p.Ser742=) n.2461G= n.2459G= | |
14 | g.91313483C>G | CA7309689 | CCDC88C | c.2333G>C (p.Ser778Thr) c.2225G>C (p.Ser742Thr) n.2461G>C n.2459G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313483C>T | CA390630403 | CCDC88C | c.2333G>A (p.Ser778Asn) c.2225G>A (p.Ser742Asn) n.2461G>A n.2459G>A | |
14 | g.91313484T>A | CA390630406 | CCDC88C | c.2332A>T (p.Ser778Cys) c.2224A>T (p.Ser742Cys) n.2460A>T n.2458A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313484T>C | CA390630407 | CCDC88C | c.2332A>G (p.Ser778Gly) c.2224A>G (p.Ser742Gly) n.2460A>G n.2458A>G | dbSNP |
14 | g.91313484T>G | CA390630409 | CCDC88C | c.2332A>C (p.Ser778Arg) c.2224A>C (p.Ser742Arg) n.2460A>C n.2458A>C | dbSNP |
14 | g.91313484T= | CA2154878951 | CCDC88C | c.2332A= (p.Ser778=) c.2224A= (p.Ser742=) n.2460A= n.2458A= | |
14 | g.91313485G>A | CA487829734 | CCDC88C | c.2331C>T (p.Ser777=) c.2223C>T (p.Ser741=) n.2459C>T n.2457C>T | gnomAD v4 |
14 | g.91313485G>C | CA390630411 | CCDC88C | c.2331C>G (p.Ser777Arg) c.2223C>G (p.Ser741Arg) n.2459C>G n.2457C>G | |
14 | g.91313485G>T | CA390630413 | CCDC88C | c.2331C>A (p.Ser777Arg) c.2223C>A (p.Ser741Arg) n.2459C>A n.2457C>A | gnomAD v4 |
14 | g.91313486C>A | CA390630415 | CCDC88C | c.2330G>T (p.Ser777Ile) c.2222G>T (p.Ser741Ile) n.2458G>T n.2456G>T | |
14 | g.91313486C= | CA2154878955 | CCDC88C | c.2330G= (p.Ser777=) c.2222G= (p.Ser741=) n.2458G= n.2456G= | |
14 | g.91313486C>G | CA390630417 | CCDC88C | c.2330G>C (p.Ser777Thr) c.2222G>C (p.Ser741Thr) n.2458G>C n.2456G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313486C>T | CA390630418 | CCDC88C | c.2330G>A (p.Ser777Asn) c.2222G>A (p.Ser741Asn) n.2458G>A n.2456G>A | gnomAD v4 |
14 | g.91313487T>A | CA390630422 | CCDC88C | c.2329A>T (p.Ser777Cys) c.2221A>T (p.Ser741Cys) n.2457A>T n.2455A>T | |
14 | g.91313487T>C | CA390630423 | CCDC88C | c.2329A>G (p.Ser777Gly) c.2221A>G (p.Ser741Gly) n.2457A>G n.2455A>G | |
14 | g.91313487T>G | CA390630425 | CCDC88C | c.2329A>C (p.Ser777Arg) c.2221A>C (p.Ser741Arg) n.2457A>C n.2455A>C | |
14 | g.91313488C>A | CA390630429 | CCDC88C | c.2328G>T (p.Glu776Asp) c.2220G>T (p.Glu740Asp) n.2456G>T n.2454G>T | |
14 | g.91313488C= | CA2154878958 | CCDC88C | c.2328G= (p.Glu776=) c.2220G= (p.Glu740=) n.2456G= n.2454G= | |
14 | g.91313488C>G | CA390630428 | CCDC88C | c.2328G>C (p.Glu776Asp) c.2220G>C (p.Glu740Asp) n.2456G>C n.2454G>C | |
14 | g.91313488C>T | CA7309690 | CCDC88C | c.2328G>A (p.Glu776=) c.2220G>A (p.Glu740=) n.2456G>A n.2454G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313489T>A | CA390630433 | CCDC88C | c.2327A>T (p.Glu776Val) c.2219A>T (p.Glu740Val) n.2455A>T n.2453A>T | |
14 | g.91313489T>C | CA390630431 | CCDC88C | c.2327A>G (p.Glu776Gly) c.2219A>G (p.Glu740Gly) n.2455A>G n.2453A>G | |
14 | g.91313489T>G | CA390630435 | CCDC88C | c.2327A>C (p.Glu776Ala) c.2219A>C (p.Glu740Ala) n.2455A>C n.2453A>C | |
14 | g.91313490C>A | CA390630437 | CCDC88C | c.2326G>T (p.Glu776Ter) c.2218G>T (p.Glu740Ter) n.2454G>T n.2452G>T | dbSNP gnomAD v2 |
14 | g.91313490C= | CA2154878961 | CCDC88C | c.2326G= (p.Glu776=) c.2218G= (p.Glu740=) n.2454G= n.2452G= | |
14 | g.91313490C>G | CA390630440 | CCDC88C | c.2326G>C (p.Glu776Gln) c.2218G>C (p.Glu740Gln) n.2454G>C n.2452G>C | |
14 | g.91313490C>T | CA390630441 | CCDC88C | c.2326G>A (p.Glu776Lys) c.2218G>A (p.Glu740Lys) n.2454G>A n.2452G>A | gnomAD v4 |
14 | g.91313491C>A | CA487829738 | CCDC88C | c.2325G>T (p.Leu775=) c.2217G>T (p.Leu739=) n.2453G>T n.2451G>T | ClinVar gnomAD v4 |
14 | g.91313491C>G | CA487829737 | CCDC88C | c.2325G>C (p.Leu775=) c.2217G>C (p.Leu739=) n.2453G>C n.2451G>C | |
14 | g.91313491C>T | CA487829736 | CCDC88C | c.2325G>A (p.Leu775=) c.2217G>A (p.Leu739=) n.2453G>A n.2451G>A | gnomAD v4 |
14 | g.91313492A= | CA2154878964 | CCDC88C | c.2324T= (p.Leu775=) c.2216T= (p.Leu739=) n.2452T= n.2450T= | |
14 | g.91313492A>C | CA390630442 | CCDC88C | c.2324T>G (p.Leu775Arg) c.2216T>G (p.Leu739Arg) n.2452T>G n.2450T>G | |
14 | g.91313492A>G | CA390630444 | CCDC88C | c.2324T>C (p.Leu775Pro) c.2216T>C (p.Leu739Pro) n.2452T>C n.2450T>C | dbSNP |
14 | g.91313492A>T | CA390630446 | CCDC88C | c.2324T>A (p.Leu775Gln) c.2216T>A (p.Leu739Gln) n.2452T>A n.2450T>A | |
14 | g.91313493G>A | CA487829739 | CCDC88C | c.2323C>T (p.Leu775=) c.2215C>T (p.Leu739=) n.2451C>T n.2449C>T | COSMIC COSMIC |
14 | g.91313493G>C | CA390630448 | CCDC88C | c.2323C>G (p.Leu775Val) c.2215C>G (p.Leu739Val) n.2451C>G n.2449C>G | |
14 | g.91313493G= | CA2154878967 | CCDC88C | c.2323C= (p.Leu775=) c.2215C= (p.Leu739=) n.2451C= n.2449C= | |
14 | g.91313493G>T | CA390630450 | CCDC88C | c.2323C>A (p.Leu775Met) c.2215C>A (p.Leu739Met) n.2451C>A n.2449C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313494G>A | CA487829740 | CCDC88C | c.2322C>T (p.Ser774=) c.2214C>T (p.Ser738=) n.2450C>T n.2448C>T | |
14 | g.91313494G>C | CA390630452 | CCDC88C | c.2322C>G (p.Ser774Arg) c.2214C>G (p.Ser738Arg) n.2450C>G n.2448C>G | |
14 | g.91313494G>T | CA390630454 | CCDC88C | c.2322C>A (p.Ser774Arg) c.2214C>A (p.Ser738Arg) n.2450C>A n.2448C>A | gnomAD v4 |
14 | g.91313495C>A | CA390630456 | CCDC88C | c.2321G>T (p.Ser774Ile) c.2213G>T (p.Ser738Ile) n.2449G>T n.2447G>T | |
14 | g.91313495C>G | CA390630458 | CCDC88C | c.2321G>C (p.Ser774Thr) c.2213G>C (p.Ser738Thr) n.2449G>C n.2447G>C | |
14 | g.91313495C>T | CA390630459 | CCDC88C | c.2321G>A (p.Ser774Asn) c.2213G>A (p.Ser738Asn) n.2449G>A n.2447G>A | |
14 | g.91313496T>A | CA390630462 | CCDC88C | c.2320A>T (p.Ser774Cys) c.2212A>T (p.Ser738Cys) n.2448A>T n.2446A>T | |
14 | g.91313496T>C | CA390630465 | CCDC88C | c.2320A>G (p.Ser774Gly) c.2212A>G (p.Ser738Gly) n.2448A>G n.2446A>G | |
14 | g.91313496T>G | CA390630464 | CCDC88C | c.2320A>C (p.Ser774Arg) c.2212A>C (p.Ser738Arg) n.2448A>C n.2446A>C | |
14 | g.91313497C>A | CA390630468 | CCDC88C | c.2319G>T (p.Gln773His) c.2211G>T (p.Gln737His) n.2447G>T n.2445G>T | |
14 | g.91313497C>G | CA390630470 | CCDC88C | c.2319G>C (p.Gln773His) c.2211G>C (p.Gln737His) n.2447G>C n.2445G>C | |
14 | g.91313497C>T | CA487829741 | CCDC88C | c.2319G>A (p.Gln773=) c.2211G>A (p.Gln737=) n.2447G>A n.2445G>A | |
14 | g.91313498T>A | CA390630472 | CCDC88C | c.2318A>T (p.Gln773Leu) c.2210A>T (p.Gln737Leu) n.2446A>T n.2444A>T | |
14 | g.91313498T>C | CA390630473 | CCDC88C | c.2318A>G (p.Gln773Arg) c.2210A>G (p.Gln737Arg) n.2446A>G n.2444A>G | |
14 | g.91313498T>G | CA390630475 | CCDC88C | c.2318A>C (p.Gln773Pro) c.2210A>C (p.Gln737Pro) n.2446A>C n.2444A>C | |
14 | g.91313499G>A | CA390630476 | CCDC88C | c.2317C>T (p.Gln773Ter) c.2209C>T (p.Gln737Ter) n.2445C>T n.2443C>T | gnomAD v4 |
14 | g.91313499G>C | CA390630480 | CCDC88C | c.2317C>G (p.Gln773Glu) c.2209C>G (p.Gln737Glu) n.2445C>G n.2443C>G | |
14 | g.91313499G>T | CA390630481 | CCDC88C | c.2317C>A (p.Gln773Lys) c.2209C>A (p.Gln737Lys) n.2445C>A n.2443C>A | gnomAD v4 |
14 | g.91313500C>A | CA390630484 | CCDC88C | c.2316G>T (p.Gln772His) c.2208G>T (p.Gln736His) n.2444G>T n.2442G>T | |
14 | g.91313500C= | CA2154878971 | CCDC88C | c.2316G= (p.Gln772=) c.2208G= (p.Gln736=) n.2444G= n.2442G= | |
14 | g.91313500C>G | CA390630485 | CCDC88C | c.2316G>C (p.Gln772His) c.2208G>C (p.Gln736His) n.2444G>C n.2442G>C | |
14 | g.91313500C>T | CA487829742 | CCDC88C | c.2316G>A (p.Gln772=) c.2208G>A (p.Gln736=) n.2444G>A n.2442G>A | ClinVar dbSNP gnomAD v4 |
14 | g.91313501T>A | CA390630489 | CCDC88C | c.2315A>T (p.Gln772Leu) c.2207A>T (p.Gln736Leu) n.2443A>T n.2441A>T | |
14 | g.91313501T>C | CA390630490 | CCDC88C | c.2315A>G (p.Gln772Arg) c.2207A>G (p.Gln736Arg) n.2443A>G n.2441A>G | |
14 | g.91313501T>G | CA390630487 | CCDC88C | c.2315A>C (p.Gln772Pro) c.2207A>C (p.Gln736Pro) n.2443A>C n.2441A>C | |
14 | g.91313502G>A | CA390630492 | CCDC88C | c.2314C>T (p.Gln772Ter) c.2206C>T (p.Gln736Ter) n.2442C>T n.2440C>T | gnomAD v4 |
14 | g.91313502G>C | CA390630493 | CCDC88C | c.2314C>G (p.Gln772Glu) c.2206C>G (p.Gln736Glu) n.2442C>G n.2440C>G | |
14 | g.91313502G>T | CA390630494 | CCDC88C | c.2314C>A (p.Gln772Lys) c.2206C>A (p.Gln736Lys) n.2442C>A n.2440C>A | gnomAD v4 |
14 | g.91313503C>A | CA487829743 | CCDC88C | c.2313G>T (p.Leu771=) c.2205G>T (p.Leu735=) n.2441G>T n.2439G>T | gnomAD v4 |
14 | g.91313503C>G | CA487829744 | CCDC88C | c.2313G>C (p.Leu771=) c.2205G>C (p.Leu735=) n.2441G>C n.2439G>C | |
14 | g.91313503C>T | CA487829745 | CCDC88C | c.2313G>A (p.Leu771=) c.2205G>A (p.Leu735=) n.2441G>A n.2439G>A | gnomAD v4 |
14 | g.91313504A>C | CA390630496 | CCDC88C | c.2312T>G (p.Leu771Arg) c.2204T>G (p.Leu735Arg) n.2440T>G n.2438T>G | |
14 | g.91313504A>G | CA390630498 | CCDC88C | c.2312T>C (p.Leu771Pro) c.2204T>C (p.Leu735Pro) n.2440T>C n.2438T>C | gnomAD v4 |
14 | g.91313504A>T | CA390630499 | CCDC88C | c.2312T>A (p.Leu771Gln) c.2204T>A (p.Leu735Gln) n.2440T>A n.2438T>A | |
14 | g.91313505G>A | CA487829746 | CCDC88C | c.2311C>T (p.Leu771=) c.2203C>T (p.Leu735=) n.2439C>T n.2437C>T | |
14 | g.91313505G>C | CA390630501 | CCDC88C | c.2311C>G (p.Leu771Val) c.2203C>G (p.Leu735Val) n.2439C>G n.2437C>G | |
14 | g.91313505G>T | CA390630502 | CCDC88C | c.2311C>A (p.Leu771Met) c.2203C>A (p.Leu735Met) n.2439C>A n.2437C>A | gnomAD v4 |
14 | g.91313506C>A | CA487829747 | CCDC88C | c.2310G>T (p.Arg770=) c.2202G>T (p.Arg734=) n.2438G>T n.2436G>T | |
14 | g.91313506C>G | CA487829748 | CCDC88C | c.2310G>C (p.Arg770=) c.2202G>C (p.Arg734=) n.2438G>C n.2436G>C | |
14 | g.91313506C>T | CA487829749 | CCDC88C | c.2310G>A (p.Arg770=) c.2202G>A (p.Arg734=) n.2438G>A n.2436G>A | gnomAD v4 |
14 | g.91313507C>A | CA7309692 | CCDC88C | c.2309G>T (p.Arg770Leu) c.2201G>T (p.Arg734Leu) n.2437G>T n.2435G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313507C= | CA2154878974 | CCDC88C | c.2309G= (p.Arg770=) c.2201G= (p.Arg734=) n.2437G= n.2435G= | |
14 | g.91313507C>G | CA390630504 | CCDC88C | c.2309G>C (p.Arg770Pro) c.2201G>C (p.Arg734Pro) n.2437G>C n.2435G>C | gnomAD v4 |
14 | g.91313507C>T | CA7309691 | CCDC88C | c.2309G>A (p.Arg770Gln) c.2201G>A (p.Arg734Gln) n.2437G>A n.2435G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313508G>A | CA7309693 | CCDC88C | c.2308C>T (p.Arg770Trp) c.2200C>T (p.Arg734Trp) n.2436C>T n.2434C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313508G>C | CA390630508 | CCDC88C | c.2308C>G (p.Arg770Gly) c.2200C>G (p.Arg734Gly) n.2436C>G n.2434C>G | |
14 | g.91313508G= | CA2154878978 | CCDC88C | c.2308C= (p.Arg770=) c.2200C= (p.Arg734=) n.2436C= n.2434C= | |
14 | g.91313508G>T | CA487829750 | CCDC88C | c.2308C>A (p.Arg770=) c.2200C>A (p.Arg734=) n.2436C>A n.2434C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313509G>A | CA487829753 | CCDC88C | c.2307C>T (p.Leu769=) c.2199C>T (p.Leu733=) n.2435C>T n.2433C>T | |
14 | g.91313509G>C | CA487829752 | CCDC88C | c.2307C>G (p.Leu769=) c.2199C>G (p.Leu733=) n.2435C>G n.2433C>G | |
14 | g.91313509G= | CA2154878980 | CCDC88C | c.2307C= (p.Leu769=) c.2199C= (p.Leu733=) n.2435C= n.2433C= | |
14 | g.91313509G>T | CA487829751 | CCDC88C | c.2307C>A (p.Leu769=) c.2199C>A (p.Leu733=) n.2435C>A n.2433C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313510A>C | CA390630514 | CCDC88C | c.2306T>G (p.Leu769Arg) c.2198T>G (p.Leu733Arg) n.2434T>G n.2432T>G | |
14 | g.91313510A>G | CA390630512 | CCDC88C | c.2306T>C (p.Leu769Pro) c.2198T>C (p.Leu733Pro) n.2434T>C n.2432T>C | |
14 | g.91313510A>T | CA390630510 | CCDC88C | c.2306T>A (p.Leu769His) c.2198T>A (p.Leu733His) n.2434T>A n.2432T>A | |
14 | g.91313511G>A | CA7309694 | CCDC88C | c.2305C>T (p.Leu769Phe) c.2197C>T (p.Leu733Phe) n.2433C>T n.2431C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313511G>C | CA390630516 | CCDC88C | c.2305C>G (p.Leu769Val) c.2197C>G (p.Leu733Val) n.2433C>G n.2431C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313511G= | CA2154878984 | CCDC88C | c.2305C= (p.Leu769=) c.2197C= (p.Leu733=) n.2433C= n.2431C= | |
14 | g.91313511G>T | CA390630518 | CCDC88C | c.2305C>A (p.Leu769Ile) c.2197C>A (p.Leu733Ile) n.2433C>A n.2431C>A | dbSNP gnomAD v4 |
14 | g.91313512G>A | CA487829754 | CCDC88C | c.2304C>T (p.Asn768=) c.2196C>T (p.Asn732=) n.2432C>T n.2430C>T | |
14 | g.91313512G>C | CA390630519 | CCDC88C | c.2304C>G (p.Asn768Lys) c.2196C>G (p.Asn732Lys) n.2432C>G n.2430C>G | |
14 | g.91313512G= | CA2154878987 | CCDC88C | c.2304C= (p.Asn768=) c.2196C= (p.Asn732=) n.2432C= n.2430C= | |
14 | g.91313512G>T | CA390630521 | CCDC88C | c.2304C>A (p.Asn768Lys) c.2196C>A (p.Asn732Lys) n.2432C>A n.2430C>A | dbSNP gnomAD v4 |
14 | g.91313513T>A | CA390630523 | CCDC88C | c.2303A>T (p.Asn768Ile) c.2195A>T (p.Asn732Ile) n.2431A>T n.2429A>T | |
14 | g.91313513T>C | CA390630525 | CCDC88C | c.2303A>G (p.Asn768Ser) c.2195A>G (p.Asn732Ser) n.2431A>G n.2429A>G | |
14 | g.91313513T>G | CA390630527 | CCDC88C | c.2303A>C (p.Asn768Thr) c.2195A>C (p.Asn732Thr) n.2431A>C n.2429A>C | |
14 | g.91313514T>A | CA390630529 | CCDC88C | c.2302A>T (p.Asn768Tyr) c.2194A>T (p.Asn732Tyr) n.2430A>T n.2428A>T | |
14 | g.91313514T>C | CA390630530 | CCDC88C | c.2302A>G (p.Asn768Asp) c.2194A>G (p.Asn732Asp) n.2430A>G n.2428A>G | |
14 | g.91313514T>G | CA390630532 | CCDC88C | c.2302A>C (p.Asn768His) c.2194A>C (p.Asn732His) n.2430A>C n.2428A>C | |
14 | g.91313516_91313517dup | CA2626131089 | CCDC88C | c.2301_2302dup (p.Asn768ArgfsTer?) c.2193_2194dup (p.Asn732ArgfsTer?) n.2429_2430dup n.2427_2428dup | gnomAD v4 |
14 | g.91313515C>A | CA390630534 | CCDC88C | c.2301G>T (p.Glu767Asp) c.2193G>T (p.Glu731Asp) n.2429G>T n.2427G>T | |
14 | g.91313515C>G | CA390630536 | CCDC88C | c.2301G>C (p.Glu767Asp) c.2193G>C (p.Glu731Asp) n.2429G>C n.2427G>C | |
14 | g.91313515C>T | CA487829755 | CCDC88C | c.2301G>A (p.Glu767=) c.2193G>A (p.Glu731=) n.2429G>A n.2427G>A | ClinVar |
14 | g.91313516T>A | CA390630542 | CCDC88C | c.2300A>T (p.Glu767Val) c.2192A>T (p.Glu731Val) n.2428A>T n.2426A>T | |
14 | g.91313516T>C | CA390630540 | CCDC88C | c.2300A>G (p.Glu767Gly) c.2192A>G (p.Glu731Gly) n.2428A>G n.2426A>G | gnomAD v4 |
14 | g.91313516T>G | CA390630538 | CCDC88C | c.2300A>C (p.Glu767Ala) c.2192A>C (p.Glu731Ala) n.2428A>C n.2426A>C | |
14 | g.91313517C>A | CA390630544 | CCDC88C | c.2299G>T (p.Glu767Ter) c.2191G>T (p.Glu731Ter) n.2427G>T n.2425G>T | |
14 | g.91313517C>G | CA390630547 | CCDC88C | c.2299G>C (p.Glu767Gln) c.2191G>C (p.Glu731Gln) n.2427G>C n.2425G>C | |
14 | g.91313517C>T | CA390630545 | CCDC88C | c.2299G>A (p.Glu767Lys) c.2191G>A (p.Glu731Lys) n.2427G>A n.2425G>A | |
14 | g.91313518A>C | CA487829756 | CCDC88C | c.2298T>G (p.Ala766=) c.2190T>G (p.Ala730=) n.2426T>G n.2424T>G | |
14 | g.91313518A>G | CA487829757 | CCDC88C | c.2298T>C (p.Ala766=) c.2190T>C (p.Ala730=) n.2426T>C n.2424T>C | |
14 | g.91313518A>T | CA487829758 | CCDC88C | c.2298T>A (p.Ala766=) c.2190T>A (p.Ala730=) n.2426T>A n.2424T>A | |
14 | g.91313519G>A | CA390630549 | CCDC88C | c.2297C>T (p.Ala766Val) c.2189C>T (p.Ala730Val) n.2425C>T n.2423C>T | |
14 | g.91313519G>C | CA390630551 | CCDC88C | c.2297C>G (p.Ala766Gly) c.2189C>G (p.Ala730Gly) n.2425C>G n.2423C>G | |
14 | g.91313519G>T | CA390630550 | CCDC88C | c.2297C>A (p.Ala766Asp) c.2189C>A (p.Ala730Asp) n.2425C>A n.2423C>A | |
14 | g.91313519_91313525delinsGCGCTCA | CA2154878989 | CCDC88C | c.2291_2297delinsTGAGCGC (p.Val764=) c.2183_2189delinsTGAGCGC (p.Val728=) n.2419_2425delinsTGAGCGC n.2417_2423delinsTGAGCGC | |
14 | g.91313520C>A | CA390630554 | CCDC88C | c.2296G>T (p.Ala766Ser) c.2188G>T (p.Ala730Ser) n.2424G>T n.2422G>T | gnomAD v4 |
14 | g.91313520C= | CA2154878996 | CCDC88C | c.2296G= (p.Ala766=) c.2188G= (p.Ala730=) n.2424G= n.2422G= | |
14 | g.91313520C>G | CA390630555 | CCDC88C | c.2296G>C (p.Ala766Pro) c.2188G>C (p.Ala730Pro) n.2424G>C n.2422G>C | |
14 | g.91313520C>T | CA7309695 | CCDC88C | c.2296G>A (p.Ala766Thr) c.2188G>A (p.Ala730Thr) n.2424G>A n.2422G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313525_91313530del | CA965913941 | CCDC88C | c.2291_2296del (p.Val764_Ser765del) c.2183_2188del (p.Val728_Ser729del) n.2419_2424del n.2417_2422del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313521G>A | CA7309696 | CCDC88C | c.2295C>T (p.Ser765=) c.2187C>T (p.Ser729=) n.2423C>T n.2421C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313521G>C | CA390630559 | CCDC88C | c.2295C>G (p.Ser765Arg) c.2187C>G (p.Ser729Arg) n.2423C>G n.2421C>G | |
14 | g.91313521G= | CA2154878998 | CCDC88C | c.2295C= (p.Ser765=) c.2187C= (p.Ser729=) n.2423C= n.2421C= | |
14 | g.91313521G>T | CA390630561 | CCDC88C | c.2295C>A (p.Ser765Arg) c.2187C>A (p.Ser729Arg) n.2423C>A n.2421C>A | gnomAD v4 |
14 | g.91313522C>A | CA390630564 | CCDC88C | c.2294G>T (p.Ser765Ile) c.2186G>T (p.Ser729Ile) n.2422G>T n.2420G>T | |
14 | g.91313522C= | CA2154879000 | CCDC88C | c.2294G= (p.Ser765=) c.2186G= (p.Ser729=) n.2422G= n.2420G= | |
14 | g.91313522C>G | CA390630566 | CCDC88C | c.2294G>C (p.Ser765Thr) c.2186G>C (p.Ser729Thr) n.2422G>C n.2420G>C | |
14 | g.91313522C>T | CA390630568 | CCDC88C | c.2294G>A (p.Ser765Asn) c.2186G>A (p.Ser729Asn) n.2422G>A n.2420G>A | dbSNP gnomAD v4 |
14 | g.91313523T>A | CA390630570 | CCDC88C | c.2293A>T (p.Ser765Cys) c.2185A>T (p.Ser729Cys) n.2421A>T n.2419A>T | |
14 | g.91313523T>C | CA390630572 | CCDC88C | c.2293A>G (p.Ser765Gly) c.2185A>G (p.Ser729Gly) n.2421A>G n.2419A>G | gnomAD v4 |
14 | g.91313523T>G | CA390630573 | CCDC88C | c.2293A>C (p.Ser765Arg) c.2185A>C (p.Ser729Arg) n.2421A>C n.2419A>C | |
14 | g.91313524C>A | CA487829760 | CCDC88C | c.2292G>T (p.Val764=) c.2184G>T (p.Val728=) n.2420G>T n.2418G>T | |
14 | g.91313524C= | CA2154879001 | CCDC88C | c.2292G= (p.Val764=) c.2184G= (p.Val728=) n.2420G= n.2418G= | |
14 | g.91313524C>G | CA487829761 | CCDC88C | c.2292G>C (p.Val764=) c.2184G>C (p.Val728=) n.2420G>C n.2418G>C | |
14 | g.91313524C>T | CA487829759 | CCDC88C | c.2292G>A (p.Val764=) c.2184G>A (p.Val728=) n.2420G>A n.2418G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313525A>C | CA390630580 | CCDC88C | c.2291T>G (p.Val764Gly) c.2183T>G (p.Val728Gly) n.2419T>G n.2417T>G | |
14 | g.91313525A>G | CA390630577 | CCDC88C | c.2291T>C (p.Val764Ala) c.2183T>C (p.Val728Ala) n.2419T>C n.2417T>C | |
14 | g.91313525A>T | CA390630578 | CCDC88C | c.2291T>A (p.Val764Glu) c.2183T>A (p.Val728Glu) n.2419T>A n.2417T>A | |
14 | g.91313526C>A | CA7309698 | CCDC88C | c.2290G>T (p.Val764Leu) c.2182G>T (p.Val728Leu) n.2418G>T n.2416G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313526C= | CA2154879004 | CCDC88C | c.2290G= (p.Val764=) c.2182G= (p.Val728=) n.2418G= n.2416G= | |
14 | g.91313526C>G | CA390630583 | CCDC88C | c.2290G>C (p.Val764Leu) c.2182G>C (p.Val728Leu) n.2418G>C n.2416G>C | |
14 | g.91313526C>T | CA7309697 | CCDC88C | c.2290G>A (p.Val764Met) c.2182G>A (p.Val728Met) n.2418G>A n.2416G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313527G>A | CA7309699 | CCDC88C | c.2289C>T (p.Ser763=) c.2181C>T (p.Ser727=) n.2417C>T n.2415C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313527G>C | CA390630587 | CCDC88C | c.2289C>G (p.Ser763Arg) c.2181C>G (p.Ser727Arg) n.2417C>G n.2415C>G | |
14 | g.91313527G= | CA2154879007 | CCDC88C | c.2289C= (p.Ser763=) c.2181C= (p.Ser727=) n.2417C= n.2415C= | |
14 | g.91313527G>T | CA390630588 | CCDC88C | c.2289C>A (p.Ser763Arg) c.2181C>A (p.Ser727Arg) n.2417C>A n.2415C>A | |
14 | g.91313528C>A | CA265570001 | CCDC88C | c.2288G>T (p.Ser763Ile) c.2180G>T (p.Ser727Ile) n.2416G>T n.2414G>T | dbSNP |
14 | g.91313528C= | CA2154879011 | CCDC88C | c.2288G= (p.Ser763=) c.2180G= (p.Ser727=) n.2416G= n.2414G= | |
14 | g.91313528C>G | CA390630591 | CCDC88C | c.2288G>C (p.Ser763Thr) c.2180G>C (p.Ser727Thr) n.2416G>C n.2414G>C | |
14 | g.91313528C>T | CA390630592 | CCDC88C | c.2288G>A (p.Ser763Asn) c.2180G>A (p.Ser727Asn) n.2416G>A n.2414G>A | gnomAD v4 |
14 | g.91313529T>A | CA390630594 | CCDC88C | c.2287A>T (p.Ser763Cys) c.2179A>T (p.Ser727Cys) n.2415A>T n.2413A>T | |
14 | g.91313529T>C | CA390630596 | CCDC88C | c.2287A>G (p.Ser763Gly) c.2179A>G (p.Ser727Gly) n.2415A>G n.2413A>G | gnomAD v4 |
14 | g.91313529T>G | CA390630597 | CCDC88C | c.2287A>C (p.Ser763Arg) c.2179A>C (p.Ser727Arg) n.2415A>C n.2413A>C | |
14 | g.91313530C>A | CA390630599 | CCDC88C | c.2286G>T (p.Gln762His) c.2178G>T (p.Gln726His) n.2414G>T n.2412G>T | |
14 | g.91313530C= | CA2154879013 | CCDC88C | c.2286G= (p.Gln762=) c.2178G= (p.Gln726=) n.2414G= n.2412G= | |
14 | g.91313530C>G | CA390630602 | CCDC88C | c.2286G>C (p.Gln762His) c.2178G>C (p.Gln726His) n.2414G>C n.2412G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313530C>T | CA487829762 | CCDC88C | c.2286G>A (p.Gln762=) c.2178G>A (p.Gln726=) n.2414G>A n.2412G>A | |
14 | g.91313531T>A | CA390630604 | CCDC88C | c.2285A>T (p.Gln762Leu) c.2177A>T (p.Gln726Leu) n.2413A>T n.2411A>T | |
14 | g.91313531T>C | CA390630605 | CCDC88C | c.2285A>G (p.Gln762Arg) c.2177A>G (p.Gln726Arg) n.2413A>G n.2411A>G | gnomAD v4 |
14 | g.91313531T>G | CA390630607 | CCDC88C | c.2285A>C (p.Gln762Pro) c.2177A>C (p.Gln726Pro) n.2413A>C n.2411A>C | |
14 | g.91313532G>A | CA390630609 | CCDC88C | c.2284C>T (p.Gln762Ter) c.2176C>T (p.Gln726Ter) n.2412C>T n.2410C>T | |
14 | g.91313532G>C | CA390630610 | CCDC88C | c.2284C>G (p.Gln762Glu) c.2176C>G (p.Gln726Glu) n.2412C>G n.2410C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313532G= | CA2154879017 | CCDC88C | c.2284C= (p.Gln762=) c.2176C= (p.Gln726=) n.2412C= n.2410C= | |
14 | g.91313532G>T | CA390630612 | CCDC88C | c.2284C>A (p.Gln762Lys) c.2176C>A (p.Gln726Lys) n.2412C>A n.2410C>A | gnomAD v4 |
14 | g.91313533del | CA2626131127 | CCDC88C | c.2284del (p.Gln762ArgfsTer3) c.2176del (p.Gln726ArgfsTer3) n.2412del n.2410del | gnomAD v4 |
14 | g.91313533G>A | CA487829763 | CCDC88C | c.2283C>T (p.Tyr761=) c.2175C>T (p.Tyr725=) n.2411C>T n.2409C>T | ClinVar gnomAD v4 |
14 | g.91313533G>C | CA390630614 | CCDC88C | c.2283C>G (p.Tyr761Ter) c.2175C>G (p.Tyr725Ter) n.2411C>G n.2409C>G | |
14 | g.91313533G>T | CA390630616 | CCDC88C | c.2283C>A (p.Tyr761Ter) c.2175C>A (p.Tyr725Ter) n.2411C>A n.2409C>A | gnomAD v4 |
14 | g.91313534T>A | CA390630618 | CCDC88C | c.2282A>T (p.Tyr761Phe) c.2174A>T (p.Tyr725Phe) n.2410A>T n.2408A>T | gnomAD v4 |
14 | g.91313534T>C | CA390630619 | CCDC88C | c.2282A>G (p.Tyr761Cys) c.2174A>G (p.Tyr725Cys) n.2410A>G n.2408A>G | |
14 | g.91313534T>G | CA390630620 | CCDC88C | c.2282A>C (p.Tyr761Ser) c.2174A>C (p.Tyr725Ser) n.2410A>C n.2408A>C | |
14 | g.91313535A= | CA2154879019 | CCDC88C | c.2281T= (p.Tyr761=) c.2173T= (p.Tyr725=) n.2409T= n.2407T= | |
14 | g.91313535A>C | CA390630622 | CCDC88C | c.2281T>G (p.Tyr761Asp) c.2173T>G (p.Tyr725Asp) n.2409T>G n.2407T>G | |
14 | g.91313535A>G | CA390630624 | CCDC88C | c.2281T>C (p.Tyr761His) c.2173T>C (p.Tyr725His) n.2409T>C n.2407T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313535A>T | CA390630626 | CCDC88C | c.2281T>A (p.Tyr761Asn) c.2173T>A (p.Tyr725Asn) n.2409T>A n.2407T>A | |
14 | g.91313536G>A | CA487829764 | CCDC88C | c.2280C>T (p.Ser760=) c.2172C>T (p.Ser724=) n.2408C>T n.2406C>T | ClinVar gnomAD v4 |
14 | g.91313536G>C | CA390630627 | CCDC88C | c.2280C>G (p.Ser760Arg) c.2172C>G (p.Ser724Arg) n.2408C>G n.2406C>G | |
14 | g.91313536G>T | CA390630629 | CCDC88C | c.2280C>A (p.Ser760Arg) c.2172C>A (p.Ser724Arg) n.2408C>A n.2406C>A | gnomAD v4 |
14 | g.91313537C>A | CA390630632 | CCDC88C | c.2279G>T (p.Ser760Ile) c.2171G>T (p.Ser724Ile) n.2407G>T n.2405G>T | |
14 | g.91313537C>G | CA390630633 | CCDC88C | c.2279G>C (p.Ser760Thr) c.2171G>C (p.Ser724Thr) n.2407G>C n.2405G>C | |
14 | g.91313537C>T | CA390630634 | CCDC88C | c.2279G>A (p.Ser760Asn) c.2171G>A (p.Ser724Asn) n.2407G>A n.2405G>A | gnomAD v4 |
14 | g.91313538T>A | CA390630636 | CCDC88C | c.2278A>T (p.Ser760Cys) c.2170A>T (p.Ser724Cys) n.2406A>T n.2404A>T | |
14 | g.91313538T>C | CA7309700 | CCDC88C | c.2278A>G (p.Ser760Gly) c.2170A>G (p.Ser724Gly) n.2406A>G n.2404A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313538T>G | CA390630639 | CCDC88C | c.2278A>C (p.Ser760Arg) c.2170A>C (p.Ser724Arg) n.2406A>C n.2404A>C | |
14 | g.91313538T= | CA2154879022 | CCDC88C | c.2278A= (p.Ser760=) c.2170A= (p.Ser724=) n.2406A= n.2404A= | |
14 | g.91313539G>A | CA487829765 | CCDC88C | c.2277C>T (p.Leu759=) c.2169C>T (p.Leu723=) n.2405C>T n.2403C>T | gnomAD v4 |
14 | g.91313539G>C | CA265570002 | CCDC88C | c.2277C>G (p.Leu759=) c.2169C>G (p.Leu723=) n.2405C>G n.2403C>G | ClinVar dbSNP gnomAD v4 |
14 | g.91313539G= | CA2154879024 | CCDC88C | c.2277C= (p.Leu759=) c.2169C= (p.Leu723=) n.2405C= n.2403C= | |
14 | g.91313539G>T | CA487829766 | CCDC88C | c.2277C>A (p.Leu759=) c.2169C>A (p.Leu723=) n.2405C>A n.2403C>A | |
14 | g.91313540A>C | CA390630641 | CCDC88C | c.2276T>G (p.Leu759Arg) c.2168T>G (p.Leu723Arg) n.2404T>G n.2402T>G | |
14 | g.91313540A>G | CA390630642 | CCDC88C | c.2276T>C (p.Leu759Pro) c.2168T>C (p.Leu723Pro) n.2404T>C n.2402T>C | |
14 | g.91313540A>T | CA390630644 | CCDC88C | c.2276T>A (p.Leu759His) c.2168T>A (p.Leu723His) n.2404T>A n.2402T>A | |
14 | g.91313541G>A | CA7309701 | CCDC88C | c.2275C>T (p.Leu759Phe) c.2167C>T (p.Leu723Phe) n.2403C>T n.2401C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313541G>C | CA390630647 | CCDC88C | c.2275C>G (p.Leu759Val) c.2167C>G (p.Leu723Val) n.2403C>G n.2401C>G | |
14 | g.91313541G= | CA2154879027 | CCDC88C | c.2275C= (p.Leu759=) c.2167C= (p.Leu723=) n.2403C= n.2401C= | |
14 | g.91313541G>T | CA390630648 | CCDC88C | c.2275C>A (p.Leu759Ile) c.2167C>A (p.Leu723Ile) n.2403C>A n.2401C>A | gnomAD v4 |
14 | g.91313542C>A | CA390630649 | CCDC88C | c.2274G>T (p.Glu758Asp) c.2166G>T (p.Glu722Asp) n.2402G>T n.2400G>T | |
14 | g.91313542C>G | CA390630651 | CCDC88C | c.2274G>C (p.Glu758Asp) c.2166G>C (p.Glu722Asp) n.2402G>C n.2400G>C | |
14 | g.91313542C>T | CA487829767 | CCDC88C | c.2274G>A (p.Glu758=) c.2166G>A (p.Glu722=) n.2402G>A n.2400G>A | |
14 | g.91313543T>A | CA390630654 | CCDC88C | c.2273A>T (p.Glu758Val) c.2165A>T (p.Glu722Val) n.2401A>T n.2399A>T | |
14 | g.91313543T>C | CA390630657 | CCDC88C | c.2273A>G (p.Glu758Gly) c.2165A>G (p.Glu722Gly) n.2401A>G n.2399A>G | |
14 | g.91313543T>G | CA390630655 | CCDC88C | c.2273A>C (p.Glu758Ala) c.2165A>C (p.Glu722Ala) n.2401A>C n.2399A>C | |
14 | g.91313544C>A | CA390630659 | CCDC88C | c.2272G>T (p.Glu758Ter) c.2164G>T (p.Glu722Ter) n.2400G>T n.2398G>T | |
14 | g.91313544C= | CA2154879029 | CCDC88C | c.2272G= (p.Glu758=) c.2164G= (p.Glu722=) n.2400G= n.2398G= | |
14 | g.91313544C>G | CA390630661 | CCDC88C | c.2272G>C (p.Glu758Gln) c.2164G>C (p.Glu722Gln) n.2400G>C n.2398G>C | gnomAD v4 |
14 | g.91313544C>T | CA390630663 | CCDC88C | c.2272G>A (p.Glu758Lys) c.2164G>A (p.Glu722Lys) n.2400G>A n.2398G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313545C>A | CA487829769 | CCDC88C | c.2271G>T (p.Leu757=) c.2163G>T (p.Leu721=) n.2399G>T n.2397G>T | dbSNP |
14 | g.91313545C= | CA2154879032 | CCDC88C | c.2271G= (p.Leu757=) c.2163G= (p.Leu721=) n.2399G= n.2397G= | |
14 | g.91313545C>G | CA487829770 | CCDC88C | c.2271G>C (p.Leu757=) c.2163G>C (p.Leu721=) n.2399G>C n.2397G>C | dbSNP gnomAD v2 |
14 | g.91313545C>T | CA487829768 | CCDC88C | c.2271G>A (p.Leu757=) c.2163G>A (p.Leu721=) n.2399G>A n.2397G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313546A>C | CA390630665 | CCDC88C | c.2270T>G (p.Leu757Arg) c.2162T>G (p.Leu721Arg) n.2398T>G n.2396T>G | |
14 | g.91313546A>G | CA390630667 | CCDC88C | c.2270T>C (p.Leu757Pro) c.2162T>C (p.Leu721Pro) n.2398T>C n.2396T>C | gnomAD v4 |
14 | g.91313546A>T | CA390630668 | CCDC88C | c.2270T>A (p.Leu757Gln) c.2162T>A (p.Leu721Gln) n.2398T>A n.2396T>A | |
14 | g.91313547G>A | CA487829771 | CCDC88C | c.2269C>T (p.Leu757=) c.2161C>T (p.Leu721=) n.2397C>T n.2395C>T | gnomAD v4 |
14 | g.91313547G>C | CA390630671 | CCDC88C | c.2269C>G (p.Leu757Val) c.2161C>G (p.Leu721Val) n.2397C>G n.2395C>G | |
14 | g.91313547G>T | CA390630672 | CCDC88C | c.2269C>A (p.Leu757Met) c.2161C>A (p.Leu721Met) n.2397C>A n.2395C>A | gnomAD v4 |
14 | g.91313548G>A | CA487829772 | CCDC88C | c.2268C>T (p.Arg756=) c.2160C>T (p.Arg720=) n.2396C>T n.2394C>T | COSMIC COSMIC |
14 | g.91313548G>C | CA487829773 | CCDC88C | c.2268C>G (p.Arg756=) c.2160C>G (p.Arg720=) n.2396C>G n.2394C>G | |
14 | g.91313548G>T | CA487829774 | CCDC88C | c.2268C>A (p.Arg756=) c.2160C>A (p.Arg720=) n.2396C>A n.2394C>A | gnomAD v4 |
14 | g.91313549C>A | CA7309703 | CCDC88C | c.2267G>T (p.Arg756Leu) c.2159G>T (p.Arg720Leu) n.2395G>T n.2393G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313549C= | CA2154879038 | CCDC88C | c.2267G= (p.Arg756=) c.2159G= (p.Arg720=) n.2395G= n.2393G= | |
14 | g.91313549C>G | CA390630675 | CCDC88C | c.2267G>C (p.Arg756Pro) c.2159G>C (p.Arg720Pro) n.2395G>C n.2393G>C | |
14 | g.91313549C>T | CA7309702 | CCDC88C | c.2267G>A (p.Arg756His) c.2159G>A (p.Arg720His) n.2395G>A n.2393G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313550G>A | CA7309704 | CCDC88C | c.2266C>T (p.Arg756Cys) c.2158C>T (p.Arg720Cys) n.2394C>T n.2392C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313550G>C | CA390630679 | CCDC88C | c.2266C>G (p.Arg756Gly) c.2158C>G (p.Arg720Gly) n.2394C>G n.2392C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313550G= | CA2154879040 | CCDC88C | c.2266C= (p.Arg756=) c.2158C= (p.Arg720=) n.2394C= n.2392C= | |
14 | g.91313550G>T | CA390630681 | CCDC88C | c.2266C>A (p.Arg756Ser) c.2158C>A (p.Arg720Ser) n.2394C>A n.2392C>A | |
14 | g.91313551C>A | CA390630684 | CCDC88C | c.2265G>T (p.Glu755Asp) c.2157G>T (p.Glu719Asp) n.2393G>T n.2391G>T | |
14 | g.91313551C>G | CA390630686 | CCDC88C | c.2265G>C (p.Glu755Asp) c.2157G>C (p.Glu719Asp) n.2393G>C n.2391G>C | |
14 | g.91313551C>T | CA487829775 | CCDC88C | c.2265G>A (p.Glu755=) c.2157G>A (p.Glu719=) n.2393G>A n.2391G>A | |
14 | g.91313552T>A | CA390630689 | CCDC88C | c.2264A>T (p.Glu755Val) c.2156A>T (p.Glu719Val) n.2392A>T n.2390A>T | |
14 | g.91313552T>C | CA390630690 | CCDC88C | c.2264A>G (p.Glu755Gly) c.2156A>G (p.Glu719Gly) n.2392A>G n.2390A>G | |
14 | g.91313552T>G | CA390630692 | CCDC88C | c.2264A>C (p.Glu755Ala) c.2156A>C (p.Glu719Ala) n.2392A>C n.2390A>C | |
14 | g.91313553C>A | CA390630695 | CCDC88C | c.2263G>T (p.Glu755Ter) c.2155G>T (p.Glu719Ter) n.2391G>T n.2389G>T | gnomAD v4 |
14 | g.91313553C>G | CA390630696 | CCDC88C | c.2263G>C (p.Glu755Gln) c.2155G>C (p.Glu719Gln) n.2391G>C n.2389G>C | |
14 | g.91313553C>T | CA390630698 | CCDC88C | c.2263G>A (p.Glu755Lys) c.2155G>A (p.Glu719Lys) n.2391G>A n.2389G>A | |
14 | g.91313554T>A | CA487829776 | CCDC88C | c.2262A>T (p.Ser754=) c.2154A>T (p.Ser718=) n.2390A>T n.2388A>T | |
14 | g.91313554T>C | CA487829777 | CCDC88C | c.2262A>G (p.Ser754=) c.2154A>G (p.Ser718=) n.2390A>G n.2388A>G | |
14 | g.91313554T>G | CA487829778 | CCDC88C | c.2262A>C (p.Ser754=) c.2154A>C (p.Ser718=) n.2390A>C n.2388A>C | |
14 | g.91313555G>A | CA390630701 | CCDC88C | c.2261C>T (p.Ser754Leu) c.2153C>T (p.Ser718Leu) n.2389C>T n.2387C>T | |
14 | g.91313555G>C | CA390630702 | CCDC88C | c.2261C>G (p.Ser754Ter) c.2153C>G (p.Ser718Ter) n.2389C>G n.2387C>G | |
14 | g.91313555G>T | CA390630704 | CCDC88C | c.2261C>A (p.Ser754Ter) c.2153C>A (p.Ser718Ter) n.2389C>A n.2387C>A | gnomAD v4 |
14 | g.91313556A>C | CA390630707 | CCDC88C | c.2260T>G (p.Ser754Ala) c.2152T>G (p.Ser718Ala) n.2388T>G n.2386T>G | |
14 | g.91313556A>G | CA390630709 | CCDC88C | c.2260T>C (p.Ser754Pro) c.2152T>C (p.Ser718Pro) n.2388T>C n.2386T>C | |
14 | g.91313556A>T | CA390630706 | CCDC88C | c.2260T>A (p.Ser754Thr) c.2152T>A (p.Ser718Thr) n.2388T>A n.2386T>A | |
14 | g.91313557C>A | CA390630712 | CCDC88C | c.2259G>T (p.Lys753Asn) c.2151G>T (p.Lys717Asn) n.2387G>T n.2385G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313557C= | CA2154879043 | CCDC88C | c.2259G= (p.Lys753=) c.2151G= (p.Lys717=) n.2387G= n.2385G= | |
14 | g.91313557C>G | CA390630713 | CCDC88C | c.2259G>C (p.Lys753Asn) c.2151G>C (p.Lys717Asn) n.2387G>C n.2385G>C | gnomAD v4 |
14 | g.91313557C>T | CA265570012 | CCDC88C | c.2259G>A (p.Lys753=) c.2151G>A (p.Lys717=) n.2387G>A n.2385G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313558T>A | CA390630717 | CCDC88C | c.2258A>T (p.Lys753Met) c.2150A>T (p.Lys717Met) n.2386A>T n.2384A>T | |
14 | g.91313558T>C | CA390630718 | CCDC88C | c.2258A>G (p.Lys753Arg) c.2150A>G (p.Lys717Arg) n.2386A>G n.2384A>G | |
14 | g.91313558T>G | CA390630720 | CCDC88C | c.2258A>C (p.Lys753Thr) c.2150A>C (p.Lys717Thr) n.2386A>C n.2384A>C | |
14 | g.91313559T>A | CA390630725 | CCDC88C | c.2257A>T (p.Lys753Ter) c.2149A>T (p.Lys717Ter) n.2385A>T n.2383A>T | |
14 | g.91313559T>C | CA390630723 | CCDC88C | c.2257A>G (p.Lys753Glu) c.2149A>G (p.Lys717Glu) n.2385A>G n.2383A>G | |
14 | g.91313559T>G | CA390630724 | CCDC88C | c.2257A>C (p.Lys753Gln) c.2149A>C (p.Lys717Gln) n.2385A>C n.2383A>C | |
14 | g.91313560C>A | CA390630726 | CCDC88C | c.2256G>T (p.Lys752Asn) c.2148G>T (p.Lys716Asn) n.2384G>T n.2382G>T | |
14 | g.91313560C= | CA2154879051 | CCDC88C | c.2256G= (p.Lys752=) c.2148G= (p.Lys716=) n.2384G= n.2382G= | |
14 | g.91313560C>G | CA390630727 | CCDC88C | c.2256G>C (p.Lys752Asn) c.2148G>C (p.Lys716Asn) n.2384G>C n.2382G>C | dbSNP |
14 | g.91313560C>T | CA487829779 | CCDC88C | c.2256G>A (p.Lys752=) c.2148G>A (p.Lys716=) n.2384G>A n.2382G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313561T>A | CA390630730 | CCDC88C | c.2255A>T (p.Lys752Met) c.2147A>T (p.Lys716Met) n.2383A>T n.2381A>T | |
14 | g.91313561T>C | CA7309705 | CCDC88C | c.2255A>G (p.Lys752Arg) c.2147A>G (p.Lys716Arg) n.2383A>G n.2381A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313561T>G | CA390630733 | CCDC88C | c.2255A>C (p.Lys752Thr) c.2147A>C (p.Lys716Thr) n.2383A>C n.2381A>C | |
14 | g.91313561T= | CA2154879054 | CCDC88C | c.2255A= (p.Lys752=) c.2147A= (p.Lys716=) n.2383A= n.2381A= | |
14 | g.91313562T>A | CA390630735 | CCDC88C | c.2254A>T (p.Lys752Ter) c.2146A>T (p.Lys716Ter) n.2382A>T n.2380A>T | |
14 | g.91313562T>C | CA390630737 | CCDC88C | c.2254A>G (p.Lys752Glu) c.2146A>G (p.Lys716Glu) n.2382A>G n.2380A>G | |
14 | g.91313562T>G | CA390630736 | CCDC88C | c.2254A>C (p.Lys752Gln) c.2146A>C (p.Lys716Gln) n.2382A>C n.2380A>C | |
14 | g.91313563G>A | CA487829912 | CCDC88C | c.2253C>T (p.Gly751=) c.2145C>T (p.Gly715=) n.2381C>T n.2379C>T | |
14 | g.91313563G>C | CA487829913 | CCDC88C | c.2253C>G (p.Gly751=) c.2145C>G (p.Gly715=) n.2381C>G n.2379C>G | |
14 | g.91313563G>T | CA487829914 | CCDC88C | c.2253C>A (p.Gly751=) c.2145C>A (p.Gly715=) n.2381C>A n.2379C>A | gnomAD v4 |
14 | g.91313564C>A | CA390630739 | CCDC88C | c.2252G>T (p.Gly751Val) c.2144G>T (p.Gly715Val) n.2380G>T n.2378G>T | gnomAD v4 |
14 | g.91313564C= | CA2154879055 | CCDC88C | c.2252G= (p.Gly751=) c.2144G= (p.Gly715=) n.2380G= n.2378G= | |
14 | g.91313564C>G | CA390630741 | CCDC88C | c.2252G>C (p.Gly751Ala) c.2144G>C (p.Gly715Ala) n.2380G>C n.2378G>C | |
14 | g.91313564C>T | CA390630743 | CCDC88C | c.2252G>A (p.Gly751Asp) c.2144G>A (p.Gly715Asp) n.2380G>A n.2378G>A | dbSNP gnomAD v3 |
14 | g.91313566del | CA2626131138 | CCDC88C | c.2252del (p.Gly751AlafsTer14) c.2144del (p.Gly715AlafsTer14) n.2380del n.2378del | gnomAD v4 |
14 | g.91313565C>A | CA390630746 | CCDC88C | c.2251G>T (p.Gly751Cys) c.2143G>T (p.Gly715Cys) n.2379G>T n.2377G>T | |
14 | g.91313565C= | CA2154879057 | CCDC88C | c.2251G= (p.Gly751=) c.2143G= (p.Gly715=) n.2379G= n.2377G= | |
14 | g.91313565C>G | CA390630748 | CCDC88C | c.2251G>C (p.Gly751Arg) c.2143G>C (p.Gly715Arg) n.2379G>C n.2377G>C | |
14 | g.91313565C>T | CA265570033 | CCDC88C | c.2251G>A (p.Gly751Ser) c.2143G>A (p.Gly715Ser) n.2379G>A n.2377G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313566C>A | CA487829915 | CCDC88C | c.2250G>T (p.Leu750=) c.2142G>T (p.Leu714=) n.2378G>T n.2376G>T | |
14 | g.91313566C>G | CA487829917 | CCDC88C | c.2250G>C (p.Leu750=) c.2142G>C (p.Leu714=) n.2378G>C n.2376G>C | |
14 | g.91313566C>T | CA487829916 | CCDC88C | c.2250G>A (p.Leu750=) c.2142G>A (p.Leu714=) n.2378G>A n.2376G>A | |
14 | g.91313567A= | CA2154879059 | CCDC88C | c.2249T= (p.Leu750=) c.2141T= (p.Leu714=) n.2377T= n.2375T= | |
14 | g.91313567A>C | CA390630750 | CCDC88C | c.2249T>G (p.Leu750Arg) c.2141T>G (p.Leu714Arg) n.2377T>G n.2375T>G | |
14 | g.91313567A>G | CA7309706 | CCDC88C | c.2249T>C (p.Leu750Pro) c.2141T>C (p.Leu714Pro) n.2377T>C n.2375T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313567A>T | CA390630752 | CCDC88C | c.2249T>A (p.Leu750Gln) c.2141T>A (p.Leu714Gln) n.2377T>A n.2375T>A | |
14 | g.91313568G>A | CA487829918 | CCDC88C | c.2248C>T (p.Leu750=) c.2140C>T (p.Leu714=) n.2376C>T n.2374C>T | |
14 | g.91313568G>C | CA390630754 | CCDC88C | c.2248C>G (p.Leu750Val) c.2140C>G (p.Leu714Val) n.2376C>G n.2374C>G | |
14 | g.91313568G>T | CA390630756 | CCDC88C | c.2248C>A (p.Leu750Met) c.2140C>A (p.Leu714Met) n.2376C>A n.2374C>A | gnomAD v4 |
14 | g.91313569C>A | CA487829919 | CCDC88C | c.2247G>T (p.Ala749=) c.2139G>T (p.Ala713=) n.2375G>T n.2373G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313569C= | CA2154879061 | CCDC88C | c.2247G= (p.Ala749=) c.2139G= (p.Ala713=) n.2375G= n.2373G= | |
14 | g.91313569C>G | CA487829920 | CCDC88C | c.2247G>C (p.Ala749=) c.2139G>C (p.Ala713=) n.2375G>C n.2373G>C | |
14 | g.91313569C>T | CA7309707 | CCDC88C | c.2247G>A (p.Ala749=) c.2139G>A (p.Ala713=) n.2375G>A n.2373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313570G>A | CA7309708 | CCDC88C | c.2246C>T (p.Ala749Val) c.2138C>T (p.Ala713Val) n.2374C>T n.2372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313570G>C | CA7309709 | CCDC88C | c.2246C>G (p.Ala749Gly) c.2138C>G (p.Ala713Gly) n.2374C>G n.2372C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313570G= | CA2154879063 | CCDC88C | c.2246C= (p.Ala749=) c.2138C= (p.Ala713=) n.2374C= n.2372C= | |
14 | g.91313570G>T | CA390630761 | CCDC88C | c.2246C>A (p.Ala749Glu) c.2138C>A (p.Ala713Glu) n.2374C>A n.2372C>A | gnomAD v4 |
14 | g.91313571C>A | CA390630763 | CCDC88C | c.2245G>T (p.Ala749Ser) c.2137G>T (p.Ala713Ser) n.2373G>T n.2371G>T | |
14 | g.91313571C>G | CA390630765 | CCDC88C | c.2245G>C (p.Ala749Pro) c.2137G>C (p.Ala713Pro) n.2373G>C n.2371G>C | |
14 | g.91313571C>T | CA390630767 | CCDC88C | c.2245G>A (p.Ala749Thr) c.2137G>A (p.Ala713Thr) n.2373G>A n.2371G>A | |
14 | g.91313572C>A | CA390630769 | CCDC88C | c.2244G>T (p.Lys748Asn) c.2136G>T (p.Lys712Asn) n.2372G>T n.2370G>T | |
14 | g.91313572C= | CA2154879066 | CCDC88C | c.2244G= (p.Lys748=) c.2136G= (p.Lys712=) n.2372G= n.2370G= | |
14 | g.91313572C>G | CA390630770 | CCDC88C | c.2244G>C (p.Lys748Asn) c.2136G>C (p.Lys712Asn) n.2372G>C n.2370G>C | |
14 | g.91313572C>T | CA487829921 | CCDC88C | c.2244G>A (p.Lys748=) c.2136G>A (p.Lys712=) n.2372G>A n.2370G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313573T>A | CA390630771 | CCDC88C | c.2243A>T (p.Lys748Met) c.2135A>T (p.Lys712Met) n.2371A>T n.2369A>T | |
14 | g.91313573T>C | CA390630773 | CCDC88C | c.2243A>G (p.Lys748Arg) c.2135A>G (p.Lys712Arg) n.2371A>G n.2369A>G | |
14 | g.91313573T>G | CA390630774 | CCDC88C | c.2243A>C (p.Lys748Thr) c.2135A>C (p.Lys712Thr) n.2371A>C n.2369A>C | |
14 | g.91313574T>A | CA390630777 | CCDC88C | c.2242A>T (p.Lys748Ter) c.2134A>T (p.Lys712Ter) n.2370A>T n.2368A>T | |
14 | g.91313574T>C | CA390630778 | CCDC88C | c.2242A>G (p.Lys748Glu) c.2134A>G (p.Lys712Glu) n.2370A>G n.2368A>G | gnomAD v4 |
14 | g.91313574T>G | CA390630780 | CCDC88C | c.2242A>C (p.Lys748Gln) c.2134A>C (p.Lys712Gln) n.2370A>C n.2368A>C | gnomAD v4 |