| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13900298A>C | CA359203527 | DNAH5 | c.2167T>G (p.Cys723Gly) c.2122T>G (p.Cys708Gly) n.2374T>G c.2275T>G (p.Cys759Gly) c.1180T>G (p.Cys394Gly) c.769T>G (p.Cys257Gly) n.2292T>G | |
| 5 | g.13900298A>G | CA359203528 | DNAH5 | c.2167T>C (p.Cys723Arg) c.2122T>C (p.Cys708Arg) n.2374T>C c.2275T>C (p.Cys759Arg) c.1180T>C (p.Cys394Arg) c.769T>C (p.Cys257Arg) n.2292T>C | |
| 5 | g.13900298A>T | CA359203530 | DNAH5 | c.2167T>A (p.Cys723Ser) c.2122T>A (p.Cys708Ser) n.2374T>A c.2275T>A (p.Cys759Ser) c.1180T>A (p.Cys394Ser) c.769T>A (p.Cys257Ser) n.2292T>A | |
| 5 | g.13900299C>A | CA359203531 | DNAH5 | c.2166G>T (p.Glu722Asp) c.2121G>T (p.Glu707Asp) n.2373G>T c.2274G>T (p.Glu758Asp) c.1179G>T (p.Glu393Asp) c.768G>T (p.Glu256Asp) n.2291G>T | |
| 5 | g.13900299C>G | CA359203532 | DNAH5 | c.2166G>C (p.Glu722Asp) c.2121G>C (p.Glu707Asp) n.2373G>C c.2274G>C (p.Glu758Asp) c.1179G>C (p.Glu393Asp) c.768G>C (p.Glu256Asp) n.2291G>C | |
| 5 | g.13900299C>T | CA443275462 | DNAH5 | c.2166G>A (p.Glu722=) c.2121G>A (p.Glu707=) n.2373G>A c.2274G>A (p.Glu758=) c.1179G>A (p.Glu393=) c.768G>A (p.Glu256=) n.2291G>A | gnomAD v4 |
| 5 | g.13900301_13900302del | CA2673279234 | DNAH5 | c.2165_2166del (p.Glu722ValfsTer22) c.2120_2121del (p.Glu707ValfsTer22) n.2372_2373del c.2273_2274del (p.Glu758ValfsTer22) c.1178_1179del (p.Glu393ValfsTer22) c.767_768del (p.Glu256ValfsTer22) n.2290_2291del | gnomAD v4 |
| 5 | g.13900300T>A | CA359203538 | DNAH5 | c.2165A>T (p.Glu722Val) c.2120A>T (p.Glu707Val) n.2372A>T c.2273A>T (p.Glu758Val) c.1178A>T (p.Glu393Val) c.767A>T (p.Glu256Val) n.2290A>T | |
| 5 | g.13900300T>C | CA359203536 | DNAH5 | c.2165A>G (p.Glu722Gly) c.2120A>G (p.Glu707Gly) n.2372A>G c.2273A>G (p.Glu758Gly) c.1178A>G (p.Glu393Gly) c.767A>G (p.Glu256Gly) n.2290A>G | dbSNP gnomAD v4 |
| 5 | g.13900300T>G | CA359203534 | DNAH5 | c.2165A>C (p.Glu722Ala) c.2120A>C (p.Glu707Ala) n.2372A>C c.2273A>C (p.Glu758Ala) c.1178A>C (p.Glu393Ala) c.767A>C (p.Glu256Ala) n.2290A>C | |
| 5 | g.13900300T= | CA1528490344 | DNAH5 | c.2165A= (p.Glu722=) c.2120A= (p.Glu707=) n.2372A= c.2273A= (p.Glu758=) c.1178A= (p.Glu393=) c.767A= (p.Glu256=) n.2290A= | |
| 5 | g.13900301C>A | CA359203539 | DNAH5 | c.2164G>T (p.Glu722Ter) c.2119G>T (p.Glu707Ter) n.2371G>T c.2272G>T (p.Glu758Ter) c.1177G>T (p.Glu393Ter) c.766G>T (p.Glu256Ter) n.2289G>T | |
| 5 | g.13900301C>G | CA359203541 | DNAH5 | c.2164G>C (p.Glu722Gln) c.2119G>C (p.Glu707Gln) n.2371G>C c.2272G>C (p.Glu758Gln) c.1177G>C (p.Glu393Gln) c.766G>C (p.Glu256Gln) n.2289G>C | |
| 5 | g.13900301C>T | CA359203543 | DNAH5 | c.2164G>A (p.Glu722Lys) c.2119G>A (p.Glu707Lys) n.2371G>A c.2272G>A (p.Glu758Lys) c.1177G>A (p.Glu393Lys) c.766G>A (p.Glu256Lys) n.2289G>A | |
| 5 | g.13900302T>A | CA443275463 | DNAH5 | c.2163A>T (p.Thr721=) c.2118A>T (p.Thr706=) n.2370A>T c.2271A>T (p.Thr757=) c.1176A>T (p.Thr392=) c.765A>T (p.Thr255=) n.2288A>T | |
| 5 | g.13900302T>C | CA443275464 | DNAH5 | c.2163A>G (p.Thr721=) c.2118A>G (p.Thr706=) n.2370A>G c.2271A>G (p.Thr757=) c.1176A>G (p.Thr392=) c.765A>G (p.Thr255=) n.2288A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13900302T>G | CA443275465 | DNAH5 | c.2163A>C (p.Thr721=) c.2118A>C (p.Thr706=) n.2370A>C c.2271A>C (p.Thr757=) c.1176A>C (p.Thr392=) c.765A>C (p.Thr255=) n.2288A>C | |
| 5 | g.13900302T= | CA1528490345 | DNAH5 | c.2163A= (p.Thr721=) c.2118A= (p.Thr706=) n.2370A= c.2271A= (p.Thr757=) c.1176A= (p.Thr392=) c.765A= (p.Thr255=) n.2288A= | |
| 5 | g.13900303G>A | CA359203545 | DNAH5 | c.2162C>T (p.Thr721Ile) c.2117C>T (p.Thr706Ile) n.2369C>T c.2270C>T (p.Thr757Ile) c.1175C>T (p.Thr392Ile) c.764C>T (p.Thr255Ile) n.2287C>T | gnomAD v4 |
| 5 | g.13900303G>C | CA359203546 | DNAH5 | c.2162C>G (p.Thr721Arg) c.2117C>G (p.Thr706Arg) n.2369C>G c.2270C>G (p.Thr757Arg) c.1175C>G (p.Thr392Arg) c.764C>G (p.Thr255Arg) n.2287C>G | |
| 5 | g.13900303G>T | CA359203548 | DNAH5 | c.2162C>A (p.Thr721Lys) c.2117C>A (p.Thr706Lys) n.2369C>A c.2270C>A (p.Thr757Lys) c.1175C>A (p.Thr392Lys) c.764C>A (p.Thr255Lys) n.2287C>A | |
| 5 | g.13900304T>A | CA359203550 | DNAH5 | c.2161A>T (p.Thr721Ser) c.2116A>T (p.Thr706Ser) n.2368A>T c.2269A>T (p.Thr757Ser) c.1174A>T (p.Thr392Ser) c.763A>T (p.Thr255Ser) n.2286A>T | |
| 5 | g.13900304T>C | CA359203553 | DNAH5 | c.2161A>G (p.Thr721Ala) c.2116A>G (p.Thr706Ala) n.2368A>G c.2269A>G (p.Thr757Ala) c.1174A>G (p.Thr392Ala) c.763A>G (p.Thr255Ala) n.2286A>G | |
| 5 | g.13900304T>G | CA359203551 | DNAH5 | c.2161A>C (p.Thr721Pro) c.2116A>C (p.Thr706Pro) n.2368A>C c.2269A>C (p.Thr757Pro) c.1174A>C (p.Thr392Pro) c.763A>C (p.Thr255Pro) n.2286A>C | |
| 5 | g.13900305T>A | CA359203555 | DNAH5 | c.2160A>T (p.Glu720Asp) c.2115A>T (p.Glu705Asp) n.2367A>T c.2268A>T (p.Glu756Asp) c.1173A>T (p.Glu391Asp) c.762A>T (p.Glu254Asp) n.2285A>T | |
| 5 | g.13900305T>C | CA443275466 | DNAH5 | c.2160A>G (p.Glu720=) c.2115A>G (p.Glu705=) n.2367A>G c.2268A>G (p.Glu756=) c.1173A>G (p.Glu391=) c.762A>G (p.Glu254=) n.2285A>G | |
| 5 | g.13900305T>G | CA359203556 | DNAH5 | c.2160A>C (p.Glu720Asp) c.2115A>C (p.Glu705Asp) n.2367A>C c.2268A>C (p.Glu756Asp) c.1173A>C (p.Glu391Asp) c.762A>C (p.Glu254Asp) n.2285A>C | |
| 5 | g.13900306T>A | CA359203558 | DNAH5 | c.2159A>T (p.Glu720Val) c.2114A>T (p.Glu705Val) n.2366A>T c.2267A>T (p.Glu756Val) c.1172A>T (p.Glu391Val) c.761A>T (p.Glu254Val) n.2284A>T | |
| 5 | g.13900306T>C | CA359203559 | DNAH5 | c.2159A>G (p.Glu720Gly) c.2114A>G (p.Glu705Gly) n.2366A>G c.2267A>G (p.Glu756Gly) c.1172A>G (p.Glu391Gly) c.761A>G (p.Glu254Gly) n.2284A>G | dbSNP gnomAD v4 |
| 5 | g.13900306T>G | CA359203561 | DNAH5 | c.2159A>C (p.Glu720Ala) c.2114A>C (p.Glu705Ala) n.2366A>C c.2267A>C (p.Glu756Ala) c.1172A>C (p.Glu391Ala) c.761A>C (p.Glu254Ala) n.2284A>C | |
| 5 | g.13900306T= | CA1528490346 | DNAH5 | c.2159A= (p.Glu720=) c.2114A= (p.Glu705=) n.2366A= c.2267A= (p.Glu756=) c.1172A= (p.Glu391=) c.761A= (p.Glu254=) n.2284A= | |
| 5 | g.13900307C>A | CA359203563 | DNAH5 | c.2158G>T (p.Glu720Ter) c.2113G>T (p.Glu705Ter) n.2365G>T c.2266G>T (p.Glu756Ter) c.1171G>T (p.Glu391Ter) c.760G>T (p.Glu254Ter) n.2283G>T | |
| 5 | g.13900307C>G | CA359203565 | DNAH5 | c.2158G>C (p.Glu720Gln) c.2113G>C (p.Glu705Gln) n.2365G>C c.2266G>C (p.Glu756Gln) c.1171G>C (p.Glu391Gln) c.760G>C (p.Glu254Gln) n.2283G>C | |
| 5 | g.13900307C>T | CA359203566 | DNAH5 | c.2158G>A (p.Glu720Lys) c.2113G>A (p.Glu705Lys) n.2365G>A c.2266G>A (p.Glu756Lys) c.1171G>A (p.Glu391Lys) c.760G>A (p.Glu254Lys) n.2283G>A | COSMIC |
| 5 | g.13900308T>A | CA359203569 | DNAH5 | c.2157A>T (p.Arg719Ser) c.2112A>T (p.Arg704Ser) n.2364A>T c.2265A>T (p.Arg755Ser) c.1170A>T (p.Arg390Ser) c.759A>T (p.Arg253Ser) n.2282A>T | |
| 5 | g.13900308T>C | CA443275467 | DNAH5 | c.2157A>G (p.Arg719=) c.2112A>G (p.Arg704=) n.2364A>G c.2265A>G (p.Arg755=) c.1170A>G (p.Arg390=) c.759A>G (p.Arg253=) n.2282A>G | |
| 5 | g.13900308T>G | CA359203570 | DNAH5 | c.2157A>C (p.Arg719Ser) c.2112A>C (p.Arg704Ser) n.2364A>C c.2265A>C (p.Arg755Ser) c.1170A>C (p.Arg390Ser) c.759A>C (p.Arg253Ser) n.2282A>C | |
| 5 | g.13900309C>A | CA359203575 | DNAH5 | c.2156G>T (p.Arg719Ile) c.2111G>T (p.Arg704Ile) n.2363G>T c.2264G>T (p.Arg755Ile) c.1169G>T (p.Arg390Ile) c.758G>T (p.Arg253Ile) n.2281G>T | COSMIC |
| 5 | g.13900309C= | CA1528490347 | DNAH5 | c.2156G= (p.Arg719=) c.2111G= (p.Arg704=) n.2363G= c.2264G= (p.Arg755=) c.1169G= (p.Arg390=) c.758G= (p.Arg253=) n.2281G= | |
| 5 | g.13900309C>G | CA359203572 | DNAH5 | c.2156G>C (p.Arg719Thr) c.2111G>C (p.Arg704Thr) n.2363G>C c.2264G>C (p.Arg755Thr) c.1169G>C (p.Arg390Thr) c.758G>C (p.Arg253Thr) n.2281G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13900309C>T | CA359203573 | DNAH5 | c.2156G>A (p.Arg719Lys) c.2111G>A (p.Arg704Lys) n.2363G>A c.2264G>A (p.Arg755Lys) c.1169G>A (p.Arg390Lys) c.758G>A (p.Arg253Lys) n.2281G>A | |
| 5 | g.13900310T>A | CA359203577 | DNAH5 | c.2155A>T (p.Arg719Ter) c.2110A>T (p.Arg704Ter) n.2362A>T c.2263A>T (p.Arg755Ter) c.1168A>T (p.Arg390Ter) c.757A>T (p.Arg253Ter) n.2280A>T | |
| 5 | g.13900310T>C | CA359203579 | DNAH5 | c.2155A>G (p.Arg719Gly) c.2110A>G (p.Arg704Gly) n.2362A>G c.2263A>G (p.Arg755Gly) c.1168A>G (p.Arg390Gly) c.757A>G (p.Arg253Gly) n.2280A>G | |
| 5 | g.13900310T>G | CA443275468 | DNAH5 | c.2155A>C (p.Arg719=) c.2110A>C (p.Arg704=) n.2362A>C c.2263A>C (p.Arg755=) c.1168A>C (p.Arg390=) c.757A>C (p.Arg253=) n.2280A>C | |
| 5 | g.13900311A>C | CA359203581 | DNAH5 | c.2154T>G (p.Phe718Leu) c.2109T>G (p.Phe703Leu) n.2361T>G c.2262T>G (p.Phe754Leu) c.1167T>G (p.Phe389Leu) c.756T>G (p.Phe252Leu) n.2279T>G | |
| 5 | g.13900311A>G | CA443275469 | DNAH5 | c.2154T>C (p.Phe718=) c.2109T>C (p.Phe703=) n.2361T>C c.2262T>C (p.Phe754=) c.1167T>C (p.Phe389=) c.756T>C (p.Phe252=) n.2279T>C | |
| 5 | g.13900311A>T | CA359203582 | DNAH5 | c.2154T>A (p.Phe718Leu) c.2109T>A (p.Phe703Leu) n.2361T>A c.2262T>A (p.Phe754Leu) c.1167T>A (p.Phe389Leu) c.756T>A (p.Phe252Leu) n.2279T>A | |
| 5 | g.13900313del | CA2580072061 | DNAH5 | c.2154del (p.Phe718LeufsTer?) c.2109del (p.Phe703LeufsTer?) n.2361del c.2262del (p.Phe754LeufsTer?) c.1167del (p.Phe389LeufsTer?) c.756del (p.Phe252LeufsTer?) n.2279del | ClinVar |
| 5 | g.13900312A= | CA1528490348 | DNAH5 | c.2153T= (p.Phe718=) c.2108T= (p.Phe703=) n.2360T= c.2261T= (p.Phe754=) c.1166T= (p.Phe389=) c.755T= (p.Phe252=) n.2278T= | |
| 5 | g.13900312A>C | CA359203584 | DNAH5 | c.2153T>G (p.Phe718Cys) c.2108T>G (p.Phe703Cys) n.2360T>G c.2261T>G (p.Phe754Cys) c.1166T>G (p.Phe389Cys) c.755T>G (p.Phe252Cys) n.2278T>G |