UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6593191G>A | CA383592248 | CHD4 | c.2513C>T (p.Ser838Phe) c.2552C>T (p.Ser851Phe) c.2543C>T (p.Ser848Phe) c.2478C>T c.2492C>T (p.Ser831Phe) c.2531C>T (p.Ser844Phe) c.1269C>T c.2519C>T (p.Ser840Phe) c.410C>T (p.Ser137Phe) n.507C>T n.2132C>T c.1480C>T c.553C>T | COSMIC COSMIC COSMIC |
| 12 | g.6593191G>C | CA383592250 | CHD4 | c.2513C>G (p.Ser838Cys) c.2552C>G (p.Ser851Cys) c.2543C>G (p.Ser848Cys) c.2478C>G c.2492C>G (p.Ser831Cys) c.2531C>G (p.Ser844Cys) c.1269C>G c.2519C>G (p.Ser840Cys) c.410C>G (p.Ser137Cys) n.507C>G n.2132C>G c.1480C>G c.553C>G | |
| 12 | g.6593191G= | CA2014149238 | CHD4 | c.2513C= (p.Ser838=) c.2552C= (p.Ser851=) c.2543C= (p.Ser848=) c.2478C= c.2492C= (p.Ser831=) c.2531C= (p.Ser844=) c.1269C= c.2519C= (p.Ser840=) c.410C= (p.Ser137=) n.507C= n.2132C= c.1480C= c.553C= | |
| 12 | g.6593191G>T | CA10588997 | CHD4 | c.2513C>A (p.Ser838Tyr) c.2552C>A (p.Ser851Tyr) c.2543C>A (p.Ser848Tyr) c.2478C>A c.2492C>A (p.Ser831Tyr) c.2531C>A (p.Ser844Tyr) c.1269C>A c.2519C>A (p.Ser840Tyr) c.410C>A (p.Ser137Tyr) n.507C>A n.2132C>A c.1480C>A c.553C>A | ClinVar dbSNP |
| 12 | g.6593192A>C | CA383592262 | CHD4 | c.2512T>G (p.Ser838Ala) c.2551T>G (p.Ser851Ala) c.2542T>G (p.Ser848Ala) c.2477T>G c.2491T>G (p.Ser831Ala) c.2530T>G (p.Ser844Ala) c.1268T>G c.2518T>G (p.Ser840Ala) c.409T>G (p.Ser137Ala) n.506T>G n.2131T>G c.1479T>G c.552T>G | |
| 12 | g.6593192A>G | CA383592261 | CHD4 | c.2512T>C (p.Ser838Pro) c.2551T>C (p.Ser851Pro) c.2542T>C (p.Ser848Pro) c.2477T>C c.2491T>C (p.Ser831Pro) c.2530T>C (p.Ser844Pro) c.1268T>C c.2518T>C (p.Ser840Pro) c.409T>C (p.Ser137Pro) n.506T>C n.2131T>C c.1479T>C c.552T>C | |
| 12 | g.6593192A>T | CA383592260 | CHD4 | c.2512T>A (p.Ser838Thr) c.2551T>A (p.Ser851Thr) c.2542T>A (p.Ser848Thr) c.2477T>A c.2491T>A (p.Ser831Thr) c.2530T>A (p.Ser844Thr) c.1268T>A c.2518T>A (p.Ser840Thr) c.409T>A (p.Ser137Thr) n.506T>A n.2131T>A c.1479T>A c.552T>A | |
| 12 | g.6593193T>A | CA478132022 | CHD4 | c.2511A>T (p.Thr837=) c.2550A>T (p.Thr850=) c.2541A>T (p.Thr847=) c.2476A>T c.2490A>T (p.Thr830=) c.2529A>T (p.Thr843=) c.1267A>T c.2517A>T (p.Thr839=) c.408A>T (p.Thr136=) n.505A>T n.2130A>T c.1478A>T c.551A>T | |
| 12 | g.6593193T>C | CA478132020 | CHD4 | c.2511A>G (p.Thr837=) c.2550A>G (p.Thr850=) c.2541A>G (p.Thr847=) c.2476A>G c.2490A>G (p.Thr830=) c.2529A>G (p.Thr843=) c.1267A>G c.2517A>G (p.Thr839=) c.408A>G (p.Thr136=) n.505A>G n.2130A>G c.1478A>G c.551A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593193T>G | CA478132021 | CHD4 | c.2511A>C (p.Thr837=) c.2550A>C (p.Thr850=) c.2541A>C (p.Thr847=) c.2476A>C c.2490A>C (p.Thr830=) c.2529A>C (p.Thr843=) c.1267A>C c.2517A>C (p.Thr839=) c.408A>C (p.Thr136=) n.505A>C n.2130A>C c.1478A>C c.551A>C | |
| 12 | g.6593193T= | CA2014149242 | CHD4 | c.2511A= (p.Thr837=) c.2550A= (p.Thr850=) c.2541A= (p.Thr847=) c.2476A= c.2490A= (p.Thr830=) c.2529A= (p.Thr843=) c.1267A= c.2517A= (p.Thr839=) c.408A= (p.Thr136=) n.505A= n.2130A= c.1478A= c.551A= | |
| 12 | g.6593194G>A | CA383592264 | CHD4 | c.2510C>T (p.Thr837Ile) c.2549C>T (p.Thr850Ile) c.2540C>T (p.Thr847Ile) c.2475C>T c.2489C>T (p.Thr830Ile) c.2528C>T (p.Thr843Ile) c.1266C>T c.2516C>T (p.Thr839Ile) c.407C>T (p.Thr136Ile) n.504C>T n.2129C>T c.1477C>T c.550C>T | |
| 12 | g.6593194G>C | CA383592266 | CHD4 | c.2510C>G (p.Thr837Arg) c.2549C>G (p.Thr850Arg) c.2540C>G (p.Thr847Arg) c.2475C>G c.2489C>G (p.Thr830Arg) c.2528C>G (p.Thr843Arg) c.1266C>G c.2516C>G (p.Thr839Arg) c.407C>G (p.Thr136Arg) n.504C>G n.2129C>G c.1477C>G c.550C>G | |
| 12 | g.6593194G>T | CA383592270 | CHD4 | c.2510C>A (p.Thr837Lys) c.2549C>A (p.Thr850Lys) c.2540C>A (p.Thr847Lys) c.2475C>A c.2489C>A (p.Thr830Lys) c.2528C>A (p.Thr843Lys) c.1266C>A c.2516C>A (p.Thr839Lys) c.407C>A (p.Thr136Lys) n.504C>A n.2129C>A c.1477C>A c.550C>A | |
| 12 | g.6593195T>A | CA383592273 | CHD4 | c.2509A>T (p.Thr837Ser) c.2548A>T (p.Thr850Ser) c.2539A>T (p.Thr847Ser) c.2474A>T c.2488A>T (p.Thr830Ser) c.2527A>T (p.Thr843Ser) c.1265A>T c.2515A>T (p.Thr839Ser) c.406A>T (p.Thr136Ser) n.503A>T n.2128A>T c.1476A>T c.549A>T | |
| 12 | g.6593195T>C | CA383592276 | CHD4 | c.2509A>G (p.Thr837Ala) c.2548A>G (p.Thr850Ala) c.2539A>G (p.Thr847Ala) c.2474A>G c.2488A>G (p.Thr830Ala) c.2527A>G (p.Thr843Ala) c.1265A>G c.2515A>G (p.Thr839Ala) c.406A>G (p.Thr136Ala) n.503A>G n.2128A>G c.1476A>G c.549A>G | |
| 12 | g.6593195T>G | CA383592284 | CHD4 | c.2509A>C (p.Thr837Pro) c.2548A>C (p.Thr850Pro) c.2539A>C (p.Thr847Pro) c.2474A>C c.2488A>C (p.Thr830Pro) c.2527A>C (p.Thr843Pro) c.1265A>C c.2515A>C (p.Thr839Pro) c.406A>C (p.Thr136Pro) n.503A>C n.2128A>C c.1476A>C c.549A>C | |
| 12 | g.6593196del | CA2617296587 | CHD4 | c.2508del (p.Thr837HisfsTer5) c.2547del (p.Thr850HisfsTer5) c.2538del (p.Thr847HisfsTer5) c.2473del c.2487del (p.Thr830HisfsTer5) c.2526del (p.Thr843HisfsTer5) c.1264del c.2514del (p.Thr839HisfsTer5) c.405del (p.Thr136HisfsTer5) n.502del n.2127del c.1475del c.548del | gnomAD v4 |
| 12 | g.6593196C>A | CA478132024 | CHD4 | c.2508G>T (p.Leu836=) c.2547G>T (p.Leu849=) c.2538G>T (p.Leu846=) c.2473G>T c.2487G>T (p.Leu829=) c.2526G>T (p.Leu842=) c.1264G>T c.2514G>T (p.Leu838=) c.405G>T (p.Leu135=) n.502G>T n.2127G>T c.1475G>T c.548G>T | |
| 12 | g.6593196C>G | CA478132025 | CHD4 | c.2508G>C (p.Leu836=) c.2547G>C (p.Leu849=) c.2538G>C (p.Leu846=) c.2473G>C c.2487G>C (p.Leu829=) c.2526G>C (p.Leu842=) c.1264G>C c.2514G>C (p.Leu838=) c.405G>C (p.Leu135=) n.502G>C n.2127G>C c.1475G>C c.548G>C | |
| 12 | g.6593196C>T | CA478132026 | CHD4 | c.2508G>A (p.Leu836=) c.2547G>A (p.Leu849=) c.2538G>A (p.Leu846=) c.2473G>A c.2487G>A (p.Leu829=) c.2526G>A (p.Leu842=) c.1264G>A c.2514G>A (p.Leu838=) c.405G>A (p.Leu135=) n.502G>A n.2127G>A c.1475G>A c.548G>A | |
| 12 | g.6593197A>C | CA383592288 | CHD4 | c.2507T>G (p.Leu836Arg) c.2546T>G (p.Leu849Arg) c.2537T>G (p.Leu846Arg) c.2472T>G c.2486T>G (p.Leu829Arg) c.2525T>G (p.Leu842Arg) c.1263T>G c.2513T>G (p.Leu838Arg) c.404T>G (p.Leu135Arg) n.501T>G n.2126T>G c.1474T>G c.547T>G | |
| 12 | g.6593197A>G | CA383592290 | CHD4 | c.2507T>C (p.Leu836Pro) c.2546T>C (p.Leu849Pro) c.2537T>C (p.Leu846Pro) c.2472T>C c.2486T>C (p.Leu829Pro) c.2525T>C (p.Leu842Pro) c.1263T>C c.2513T>C (p.Leu838Pro) c.404T>C (p.Leu135Pro) n.501T>C n.2126T>C c.1474T>C c.547T>C | |
| 12 | g.6593197A>T | CA383592294 | CHD4 | c.2507T>A (p.Leu836Gln) c.2546T>A (p.Leu849Gln) c.2537T>A (p.Leu846Gln) c.2472T>A c.2486T>A (p.Leu829Gln) c.2525T>A (p.Leu842Gln) c.1263T>A c.2513T>A (p.Leu838Gln) c.404T>A (p.Leu135Gln) n.501T>A n.2126T>A c.1474T>A c.547T>A | |
| 12 | g.6593198G>A | CA478132030 | CHD4 | c.2506C>T (p.Leu836=) c.2545C>T (p.Leu849=) c.2536C>T (p.Leu846=) c.2471C>T c.2485C>T (p.Leu829=) c.2524C>T (p.Leu842=) c.1262C>T c.2512C>T (p.Leu838=) c.403C>T (p.Leu135=) n.500C>T n.2125C>T c.1473C>T c.546C>T | |
| 12 | g.6593198G>C | CA383592296 | CHD4 | c.2506C>G (p.Leu836Val) c.2545C>G (p.Leu849Val) c.2536C>G (p.Leu846Val) c.2471C>G c.2485C>G (p.Leu829Val) c.2524C>G (p.Leu842Val) c.1262C>G c.2512C>G (p.Leu838Val) c.403C>G (p.Leu135Val) n.500C>G n.2125C>G c.1473C>G c.546C>G | |
| 12 | g.6593198G>T | CA383592299 | CHD4 | c.2506C>A (p.Leu836Met) c.2545C>A (p.Leu849Met) c.2536C>A (p.Leu846Met) c.2471C>A c.2485C>A (p.Leu829Met) c.2524C>A (p.Leu842Met) c.1262C>A c.2512C>A (p.Leu838Met) c.403C>A (p.Leu135Met) n.500C>A n.2125C>A c.1473C>A c.546C>A | |
| 12 | g.6593199C>A | CA478132031 | CHD4 | c.2505G>T (p.Leu835=) c.2544G>T (p.Leu848=) c.2535G>T (p.Leu845=) c.2470G>T c.2484G>T (p.Leu828=) c.2523G>T (p.Leu841=) c.1261G>T c.2511G>T (p.Leu837=) c.402G>T (p.Leu134=) n.499G>T n.2124G>T c.1472G>T c.545G>T | |
| 12 | g.6593199C>G | CA478132032 | CHD4 | c.2505G>C (p.Leu835=) c.2544G>C (p.Leu848=) c.2535G>C (p.Leu845=) c.2470G>C c.2484G>C (p.Leu828=) c.2523G>C (p.Leu841=) c.1261G>C c.2511G>C (p.Leu837=) c.402G>C (p.Leu134=) n.499G>C n.2124G>C c.1472G>C c.545G>C | |
| 12 | g.6593199C>T | CA478132033 | CHD4 | c.2505G>A (p.Leu835=) c.2544G>A (p.Leu848=) c.2535G>A (p.Leu845=) c.2470G>A c.2484G>A (p.Leu828=) c.2523G>A (p.Leu841=) c.1261G>A c.2511G>A (p.Leu837=) c.402G>A (p.Leu134=) n.499G>A n.2124G>A c.1472G>A c.545G>A | |
| 12 | g.6593200A>C | CA383592304 | CHD4 | c.2504T>G (p.Leu835Arg) c.2543T>G (p.Leu848Arg) c.2534T>G (p.Leu845Arg) c.2469T>G c.2483T>G (p.Leu828Arg) c.2522T>G (p.Leu841Arg) c.1260T>G c.2510T>G (p.Leu837Arg) c.401T>G (p.Leu134Arg) n.498T>G n.2123T>G c.1471T>G c.544T>G | |
| 12 | g.6593200A>G | CA383592306 | CHD4 | c.2504T>C (p.Leu835Pro) c.2543T>C (p.Leu848Pro) c.2534T>C (p.Leu845Pro) c.2469T>C c.2483T>C (p.Leu828Pro) c.2522T>C (p.Leu841Pro) c.1260T>C c.2510T>C (p.Leu837Pro) c.401T>C (p.Leu134Pro) n.498T>C n.2123T>C c.1471T>C c.544T>C | |
| 12 | g.6593200A>T | CA383592310 | CHD4 | c.2504T>A (p.Leu835Gln) c.2543T>A (p.Leu848Gln) c.2534T>A (p.Leu845Gln) c.2469T>A c.2483T>A (p.Leu828Gln) c.2522T>A (p.Leu841Gln) c.1260T>A c.2510T>A (p.Leu837Gln) c.401T>A (p.Leu134Gln) n.498T>A n.2123T>A c.1471T>A c.544T>A | |
| 12 | g.6593201G>A | CA478132036 | CHD4 | c.2503C>T (p.Leu835=) c.2542C>T (p.Leu848=) c.2533C>T (p.Leu845=) c.2468C>T c.2482C>T (p.Leu828=) c.2521C>T (p.Leu841=) c.1259C>T c.2509C>T (p.Leu837=) c.400C>T (p.Leu134=) n.497C>T n.2122C>T c.1470C>T c.543C>T | |
| 12 | g.6593201G>C | CA383592314 | CHD4 | c.2503C>G (p.Leu835Val) c.2542C>G (p.Leu848Val) c.2533C>G (p.Leu845Val) c.2468C>G c.2482C>G (p.Leu828Val) c.2521C>G (p.Leu841Val) c.1259C>G c.2509C>G (p.Leu837Val) c.400C>G (p.Leu134Val) n.497C>G n.2122C>G c.1470C>G c.543C>G | |
| 12 | g.6593201G>T | CA383592330 | CHD4 | c.2503C>A (p.Leu835Met) c.2542C>A (p.Leu848Met) c.2533C>A (p.Leu845Met) c.2468C>A c.2482C>A (p.Leu828Met) c.2521C>A (p.Leu841Met) c.1259C>A c.2509C>A (p.Leu837Met) c.400C>A (p.Leu134Met) n.497C>A n.2122C>A c.1470C>A c.543C>A | |
| 12 | g.6593202C>A | CA478132038 | CHD4 | c.2502G>T (p.Val834=) c.2541G>T (p.Val847=) c.2532G>T (p.Val844=) c.2467G>T c.2481G>T (p.Val827=) c.2520G>T (p.Val840=) c.1258G>T c.2508G>T (p.Val836=) c.399G>T (p.Val133=) n.496G>T n.2121G>T c.1469G>T c.542G>T | |
| 12 | g.6593202C>G | CA478132039 | CHD4 | c.2502G>C (p.Val834=) c.2541G>C (p.Val847=) c.2532G>C (p.Val844=) c.2467G>C c.2481G>C (p.Val827=) c.2520G>C (p.Val840=) c.1258G>C c.2508G>C (p.Val836=) c.399G>C (p.Val133=) n.496G>C n.2121G>C c.1469G>C c.542G>C | |
| 12 | g.6593202C>T | CA478132040 | CHD4 | c.2502G>A (p.Val834=) c.2541G>A (p.Val847=) c.2532G>A (p.Val844=) c.2467G>A c.2481G>A (p.Val827=) c.2520G>A (p.Val840=) c.1258G>A c.2508G>A (p.Val836=) c.399G>A (p.Val133=) n.496G>A n.2121G>A c.1469G>A c.542G>A | |
| 12 | g.6593203A>C | CA383592334 | CHD4 | c.2501T>G (p.Val834Gly) c.2540T>G (p.Val847Gly) c.2531T>G (p.Val844Gly) c.2466T>G c.2480T>G (p.Val827Gly) c.2519T>G (p.Val840Gly) c.1257T>G c.2507T>G (p.Val836Gly) c.398T>G (p.Val133Gly) n.495T>G n.2120T>G c.1468T>G c.541T>G | |
| 12 | g.6593203A>G | CA383592337 | CHD4 | c.2501T>C (p.Val834Ala) c.2540T>C (p.Val847Ala) c.2531T>C (p.Val844Ala) c.2466T>C c.2480T>C (p.Val827Ala) c.2519T>C (p.Val840Ala) c.1257T>C c.2507T>C (p.Val836Ala) c.398T>C (p.Val133Ala) n.495T>C n.2120T>C c.1468T>C c.541T>C | |
| 12 | g.6593203A>T | CA383592339 | CHD4 | c.2501T>A (p.Val834Glu) c.2540T>A (p.Val847Glu) c.2531T>A (p.Val844Glu) c.2466T>A c.2480T>A (p.Val827Glu) c.2519T>A (p.Val840Glu) c.1257T>A c.2507T>A (p.Val836Glu) c.398T>A (p.Val133Glu) n.495T>A n.2120T>A c.1468T>A c.541T>A | |
| 12 | g.6593204C>A | CA383592341 | CHD4 | c.2500G>T (p.Val834Leu) c.2539G>T (p.Val847Leu) c.2530G>T (p.Val844Leu) c.2465G>T c.2479G>T (p.Val827Leu) c.2518G>T (p.Val840Leu) c.1256G>T c.2506G>T (p.Val836Leu) c.397G>T (p.Val133Leu) n.494G>T n.2119G>T c.1467G>T c.540G>T | |
| 12 | g.6593204C>G | CA383592343 | CHD4 | c.2500G>C (p.Val834Leu) c.2539G>C (p.Val847Leu) c.2530G>C (p.Val844Leu) c.2465G>C c.2479G>C (p.Val827Leu) c.2518G>C (p.Val840Leu) c.1256G>C c.2506G>C (p.Val836Leu) c.397G>C (p.Val133Leu) n.494G>C n.2119G>C c.1467G>C c.540G>C | |
| 12 | g.6593204C>T | CA383592345 | CHD4 | c.2500G>A (p.Val834Met) c.2539G>A (p.Val847Met) c.2530G>A (p.Val844Met) c.2465G>A c.2479G>A (p.Val827Met) c.2518G>A (p.Val840Met) c.1256G>A c.2506G>A (p.Val836Met) c.397G>A (p.Val133Met) n.494G>A n.2119G>A c.1467G>A c.540G>A | gnomAD v4 |
| 12 | g.6593205A>C | CA383592349 | CHD4 | c.2499T>G (p.His833Gln) c.2538T>G (p.His846Gln) c.2529T>G (p.His843Gln) c.2464T>G c.2478T>G (p.His826Gln) c.2517T>G (p.His839Gln) c.1255T>G c.2505T>G (p.His835Gln) c.396T>G (p.His132Gln) n.493T>G n.2118T>G c.1466T>G c.539T>G | |
| 12 | g.6593205A>G | CA478132041 | CHD4 | c.2499T>C (p.His833=) c.2538T>C (p.His846=) c.2529T>C (p.His843=) c.2464T>C c.2478T>C (p.His826=) c.2517T>C (p.His839=) c.1255T>C c.2505T>C (p.His835=) c.396T>C (p.His132=) n.493T>C n.2118T>C c.1466T>C c.539T>C | gnomAD v4 |
| 12 | g.6593205A>T | CA383592351 | CHD4 | c.2499T>A (p.His833Gln) c.2538T>A (p.His846Gln) c.2529T>A (p.His843Gln) c.2464T>A c.2478T>A (p.His826Gln) c.2517T>A (p.His839Gln) c.1255T>A c.2505T>A (p.His835Gln) c.396T>A (p.His132Gln) n.493T>A n.2118T>A c.1466T>A c.539T>A | |
| 12 | g.6593206T>A | CA383592352 | CHD4 | c.2498A>T (p.His833Leu) c.2537A>T (p.His846Leu) c.2528A>T (p.His843Leu) c.2463A>T c.2477A>T (p.His826Leu) c.2516A>T (p.His839Leu) c.1254A>T c.2504A>T (p.His835Leu) c.395A>T (p.His132Leu) n.492A>T n.2117A>T c.1465A>T c.538A>T | |
| 12 | g.6593206T>C | CA383592354 | CHD4 | c.2498A>G (p.His833Arg) c.2537A>G (p.His846Arg) c.2528A>G (p.His843Arg) c.2463A>G c.2477A>G (p.His826Arg) c.2516A>G (p.His839Arg) c.1254A>G c.2504A>G (p.His835Arg) c.395A>G (p.His132Arg) n.492A>G n.2117A>G c.1465A>G c.538A>G | |
| 12 | g.6593206T>G | CA383592355 | CHD4 | c.2498A>C (p.His833Pro) c.2537A>C (p.His846Pro) c.2528A>C (p.His843Pro) c.2463A>C c.2477A>C (p.His826Pro) c.2516A>C (p.His839Pro) c.1254A>C c.2504A>C (p.His835Pro) c.395A>C (p.His132Pro) n.492A>C n.2117A>C c.1465A>C c.538A>C | |
| 12 | g.6593207G>A | CA383592372 | CHD4 | c.2497C>T (p.His833Tyr) c.2536C>T (p.His846Tyr) c.2527C>T (p.His843Tyr) c.2462C>T c.2476C>T (p.His826Tyr) c.2515C>T (p.His839Tyr) c.1253C>T c.2503C>T (p.His835Tyr) c.394C>T (p.His132Tyr) n.491C>T n.2116C>T c.1464C>T c.537C>T | |
| 12 | g.6593207G>C | CA383592357 | CHD4 | c.2497C>G (p.His833Asp) c.2536C>G (p.His846Asp) c.2527C>G (p.His843Asp) c.2462C>G c.2476C>G (p.His826Asp) c.2515C>G (p.His839Asp) c.1253C>G c.2503C>G (p.His835Asp) c.394C>G (p.His132Asp) n.491C>G n.2116C>G c.1464C>G c.537C>G | |
| 12 | g.6593207G>T | CA383592356 | CHD4 | c.2497C>A (p.His833Asn) c.2536C>A (p.His846Asn) c.2527C>A (p.His843Asn) c.2462C>A c.2476C>A (p.His826Asn) c.2515C>A (p.His839Asn) c.1253C>A c.2503C>A (p.His835Asn) c.394C>A (p.His132Asn) n.491C>A n.2116C>A c.1464C>A c.537C>A | |
| 12 | g.6593208G>A | CA478132045 | CHD4 | c.2496C>T (p.Phe832=) c.2535C>T (p.Phe845=) c.2526C>T (p.Phe842=) c.2461C>T c.2475C>T (p.Phe825=) c.2514C>T (p.Phe838=) c.1252C>T c.2502C>T (p.Phe834=) c.393C>T (p.Phe131=) n.490C>T n.2115C>T c.1463C>T c.536C>T | dbSNP |
| 12 | g.6593208G>C | CA383592376 | CHD4 | c.2496C>G (p.Phe832Leu) c.2535C>G (p.Phe845Leu) c.2526C>G (p.Phe842Leu) c.2461C>G c.2475C>G (p.Phe825Leu) c.2514C>G (p.Phe838Leu) c.1252C>G c.2502C>G (p.Phe834Leu) c.393C>G (p.Phe131Leu) n.490C>G n.2115C>G c.1463C>G c.536C>G | |
| 12 | g.6593208G= | CA2014149245 | CHD4 | c.2496C= (p.Phe832=) c.2535C= (p.Phe845=) c.2526C= (p.Phe842=) c.2461C= c.2475C= (p.Phe825=) c.2514C= (p.Phe838=) c.1252C= c.2502C= (p.Phe834=) c.393C= (p.Phe131=) n.490C= n.2115C= c.1463C= c.536C= | |
| 12 | g.6593208G>T | CA383592377 | CHD4 | c.2496C>A (p.Phe832Leu) c.2535C>A (p.Phe845Leu) c.2526C>A (p.Phe842Leu) c.2461C>A c.2475C>A (p.Phe825Leu) c.2514C>A (p.Phe838Leu) c.1252C>A c.2502C>A (p.Phe834Leu) c.393C>A (p.Phe131Leu) n.490C>A n.2115C>A c.1463C>A c.536C>A | |
| 12 | g.6593209A>C | CA383592380 | CHD4 | c.2495T>G (p.Phe832Cys) c.2534T>G (p.Phe845Cys) c.2525T>G (p.Phe842Cys) c.2460T>G c.2474T>G (p.Phe825Cys) c.2513T>G (p.Phe838Cys) c.1251T>G c.2501T>G (p.Phe834Cys) c.392T>G (p.Phe131Cys) n.489T>G n.2114T>G c.1462T>G c.535T>G | |
| 12 | g.6593209A>G | CA383592381 | CHD4 | c.2495T>C (p.Phe832Ser) c.2534T>C (p.Phe845Ser) c.2525T>C (p.Phe842Ser) c.2460T>C c.2474T>C (p.Phe825Ser) c.2513T>C (p.Phe838Ser) c.1251T>C c.2501T>C (p.Phe834Ser) c.392T>C (p.Phe131Ser) n.489T>C n.2114T>C c.1462T>C c.535T>C | |
| 12 | g.6593209A>T | CA383592382 | CHD4 | c.2495T>A (p.Phe832Tyr) c.2534T>A (p.Phe845Tyr) c.2525T>A (p.Phe842Tyr) c.2460T>A c.2474T>A (p.Phe825Tyr) c.2513T>A (p.Phe838Tyr) c.1251T>A c.2501T>A (p.Phe834Tyr) c.392T>A (p.Phe131Tyr) n.489T>A n.2114T>A c.1462T>A c.535T>A | |
| 12 | g.6593210A>C | CA383592385 | CHD4 | c.2494T>G (p.Phe832Val) c.2533T>G (p.Phe845Val) c.2524T>G (p.Phe842Val) c.2459T>G c.2473T>G (p.Phe825Val) c.2512T>G (p.Phe838Val) c.1250T>G c.2500T>G (p.Phe834Val) c.391T>G (p.Phe131Val) n.488T>G n.2113T>G c.1461T>G c.534T>G | |
| 12 | g.6593210A>G | CA383592387 | CHD4 | c.2494T>C (p.Phe832Leu) c.2533T>C (p.Phe845Leu) c.2524T>C (p.Phe842Leu) c.2459T>C c.2473T>C (p.Phe825Leu) c.2512T>C (p.Phe838Leu) c.1250T>C c.2500T>C (p.Phe834Leu) c.391T>C (p.Phe131Leu) n.488T>C n.2113T>C c.1461T>C c.534T>C | |
| 12 | g.6593210A>T | CA383592388 | CHD4 | c.2494T>A (p.Phe832Ile) c.2533T>A (p.Phe845Ile) c.2524T>A (p.Phe842Ile) c.2459T>A c.2473T>A (p.Phe825Ile) c.2512T>A (p.Phe838Ile) c.1250T>A c.2500T>A (p.Phe834Ile) c.391T>A (p.Phe131Ile) n.488T>A n.2113T>A c.1461T>A c.534T>A | |
| 12 | g.6593211T>A | CA383592395 | CHD4 | c.2493A>T (p.Lys831Asn) c.2532A>T (p.Lys844Asn) c.2523A>T (p.Lys841Asn) c.2458A>T c.2472A>T (p.Lys824Asn) c.2511A>T (p.Lys837Asn) c.1249A>T c.2499A>T (p.Lys833Asn) c.390A>T (p.Lys130Asn) n.487A>T n.2112A>T c.1460A>T c.533A>T | |
| 12 | g.6593211T>C | CA478132048 | CHD4 | c.2493A>G (p.Lys831=) c.2532A>G (p.Lys844=) c.2523A>G (p.Lys841=) c.2458A>G c.2472A>G (p.Lys824=) c.2511A>G (p.Lys837=) c.1249A>G c.2499A>G (p.Lys833=) c.390A>G (p.Lys130=) n.487A>G n.2112A>G c.1460A>G c.533A>G | |
| 12 | g.6593211T>G | CA383592401 | CHD4 | c.2493A>C (p.Lys831Asn) c.2532A>C (p.Lys844Asn) c.2523A>C (p.Lys841Asn) c.2458A>C c.2472A>C (p.Lys824Asn) c.2511A>C (p.Lys837Asn) c.1249A>C c.2499A>C (p.Lys833Asn) c.390A>C (p.Lys130Asn) n.487A>C n.2112A>C c.1460A>C c.533A>C | |
| 12 | g.6593212T>A | CA383592404 | CHD4 | c.2492A>T (p.Lys831Ile) c.2531A>T (p.Lys844Ile) c.2522A>T (p.Lys841Ile) c.2457A>T c.2471A>T (p.Lys824Ile) c.2510A>T (p.Lys837Ile) c.1248A>T c.2498A>T (p.Lys833Ile) c.389A>T (p.Lys130Ile) n.486A>T n.2111A>T c.1459A>T c.532A>T | |
| 12 | g.6593212T>C | CA383592405 | CHD4 | c.2492A>G (p.Lys831Arg) c.2531A>G (p.Lys844Arg) c.2522A>G (p.Lys841Arg) c.2457A>G c.2471A>G (p.Lys824Arg) c.2510A>G (p.Lys837Arg) c.1248A>G c.2498A>G (p.Lys833Arg) c.389A>G (p.Lys130Arg) n.486A>G n.2111A>G c.1459A>G c.532A>G | |
| 12 | g.6593212T>G | CA383592407 | CHD4 | c.2492A>C (p.Lys831Thr) c.2531A>C (p.Lys844Thr) c.2522A>C (p.Lys841Thr) c.2457A>C c.2471A>C (p.Lys824Thr) c.2510A>C (p.Lys837Thr) c.1248A>C c.2498A>C (p.Lys833Thr) c.389A>C (p.Lys130Thr) n.486A>C n.2111A>C c.1459A>C c.532A>C | |
| 12 | g.6593213T>A | CA383592417 | CHD4 | c.2491A>T (p.Lys831Ter) c.2530A>T (p.Lys844Ter) c.2521A>T (p.Lys841Ter) c.2456A>T c.2470A>T (p.Lys824Ter) c.2509A>T (p.Lys837Ter) c.1247A>T c.2497A>T (p.Lys833Ter) c.388A>T (p.Lys130Ter) n.485A>T n.2110A>T c.1458A>T c.531A>T | |
| 12 | g.6593213T>C | CA383592413 | CHD4 | c.2491A>G (p.Lys831Glu) c.2530A>G (p.Lys844Glu) c.2521A>G (p.Lys841Glu) c.2456A>G c.2470A>G (p.Lys824Glu) c.2509A>G (p.Lys837Glu) c.1247A>G c.2497A>G (p.Lys833Glu) c.388A>G (p.Lys130Glu) n.485A>G n.2110A>G c.1458A>G c.531A>G | |
| 12 | g.6593213T>G | CA383592411 | CHD4 | c.2491A>C (p.Lys831Gln) c.2530A>C (p.Lys844Gln) c.2521A>C (p.Lys841Gln) c.2456A>C c.2470A>C (p.Lys824Gln) c.2509A>C (p.Lys837Gln) c.1247A>C c.2497A>C (p.Lys833Gln) c.388A>C (p.Lys130Gln) n.485A>C n.2110A>C c.1458A>C c.531A>C | |
| 12 | g.6593214C>A | CA478132053 | CHD4 | c.2490G>T (p.Val830=) c.2529G>T (p.Val843=) c.2520G>T (p.Val840=) c.2455G>T c.2469G>T (p.Val823=) c.2508G>T (p.Val836=) c.1246G>T c.2496G>T (p.Val832=) c.387G>T (p.Val129=) n.484G>T n.2109G>T c.1457G>T c.530G>T | |
| 12 | g.6593214C>G | CA478132050 | CHD4 | c.2490G>C (p.Val830=) c.2529G>C (p.Val843=) c.2520G>C (p.Val840=) c.2455G>C c.2469G>C (p.Val823=) c.2508G>C (p.Val836=) c.1246G>C c.2496G>C (p.Val832=) c.387G>C (p.Val129=) n.484G>C n.2109G>C c.1457G>C c.530G>C | |
| 12 | g.6593214C>T | CA478132052 | CHD4 | c.2490G>A (p.Val830=) c.2529G>A (p.Val843=) c.2520G>A (p.Val840=) c.2455G>A c.2469G>A (p.Val823=) c.2508G>A (p.Val836=) c.1246G>A c.2496G>A (p.Val832=) c.387G>A (p.Val129=) n.484G>A n.2109G>A c.1457G>A c.530G>A | |
| 12 | g.6593216_6593217del | CA2617296588 | CHD4 | c.2489_2490del (p.Val830GlufsTer10) c.2528_2529del (p.Val843GlufsTer10) c.2519_2520del (p.Val840GlufsTer10) c.2454_2455del c.2468_2469del (p.Val823GlufsTer10) c.2507_2508del (p.Val836GlufsTer10) c.1245_1246del c.2495_2496del (p.Val832GlufsTer10) c.386_387del (p.Val129GlufsTer10) n.483_484del n.2108_2109del c.1456_1457del c.529_530del | gnomAD v4 |
| 12 | g.6593215A>C | CA383592419 | CHD4 | c.2489T>G (p.Val830Gly) c.2528T>G (p.Val843Gly) c.2519T>G (p.Val840Gly) c.2454T>G c.2468T>G (p.Val823Gly) c.2507T>G (p.Val836Gly) c.1245T>G c.2495T>G (p.Val832Gly) c.386T>G (p.Val129Gly) n.483T>G n.2108T>G c.1456T>G c.529T>G | |
| 12 | g.6593215A>G | CA383592420 | CHD4 | c.2489T>C (p.Val830Ala) c.2528T>C (p.Val843Ala) c.2519T>C (p.Val840Ala) c.2454T>C c.2468T>C (p.Val823Ala) c.2507T>C (p.Val836Ala) c.1245T>C c.2495T>C (p.Val832Ala) c.386T>C (p.Val129Ala) n.483T>C n.2108T>C c.1456T>C c.529T>C | COSMIC COSMIC COSMIC |
| 12 | g.6593215A>T | CA383592422 | CHD4 | c.2489T>A (p.Val830Glu) c.2528T>A (p.Val843Glu) c.2519T>A (p.Val840Glu) c.2454T>A c.2468T>A (p.Val823Glu) c.2507T>A (p.Val836Glu) c.1245T>A c.2495T>A (p.Val832Glu) c.386T>A (p.Val129Glu) n.483T>A n.2108T>A c.1456T>A c.529T>A | |
| 12 | g.6593216C>A | CA383592424 | CHD4 | c.2488G>T (p.Val830Leu) c.2527G>T (p.Val843Leu) c.2518G>T (p.Val840Leu) c.2453G>T c.2467G>T (p.Val823Leu) c.2506G>T (p.Val836Leu) c.1244G>T c.2494G>T (p.Val832Leu) c.385G>T (p.Val129Leu) n.482G>T n.2107G>T c.1455G>T c.528G>T | |
| 12 | g.6593216C= | CA2014149249 | CHD4 | c.2488G= (p.Val830=) c.2527G= (p.Val843=) c.2518G= (p.Val840=) c.2453G= c.2467G= (p.Val823=) c.2506G= (p.Val836=) c.1244G= c.2494G= (p.Val832=) c.385G= (p.Val129=) n.482G= n.2107G= c.1455G= c.528G= | |
| 12 | g.6593216C>G | CA6411943 | CHD4 | c.2488G>C (p.Val830Leu) c.2527G>C (p.Val843Leu) c.2518G>C (p.Val840Leu) c.2453G>C c.2467G>C (p.Val823Leu) c.2506G>C (p.Val836Leu) c.1244G>C c.2494G>C (p.Val832Leu) c.385G>C (p.Val129Leu) n.482G>C n.2107G>C c.1455G>C c.528G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593216C>T | CA383592429 | CHD4 | c.2488G>A (p.Val830Met) c.2527G>A (p.Val843Met) c.2518G>A (p.Val840Met) c.2453G>A c.2467G>A (p.Val823Met) c.2506G>A (p.Val836Met) c.1244G>A c.2494G>A (p.Val832Met) c.385G>A (p.Val129Met) n.482G>A n.2107G>A c.1455G>A c.528G>A | |
| 12 | g.6593217A>C | CA478132054 | CHD4 | c.2487T>G (p.Ser829=) c.2526T>G (p.Ser842=) c.2517T>G (p.Ser839=) c.2452T>G c.2466T>G (p.Ser822=) c.2505T>G (p.Ser835=) c.1243T>G c.2493T>G (p.Ser831=) c.384T>G (p.Ser128=) n.481T>G n.2106T>G c.1454T>G c.527T>G | |
| 12 | g.6593217A>G | CA478132055 | CHD4 | c.2487T>C (p.Ser829=) c.2526T>C (p.Ser842=) c.2517T>C (p.Ser839=) c.2452T>C c.2466T>C (p.Ser822=) c.2505T>C (p.Ser835=) c.1243T>C c.2493T>C (p.Ser831=) c.384T>C (p.Ser128=) n.481T>C n.2106T>C c.1454T>C c.527T>C | |
| 12 | g.6593217A>T | CA478132056 | CHD4 | c.2487T>A (p.Ser829=) c.2526T>A (p.Ser842=) c.2517T>A (p.Ser839=) c.2452T>A c.2466T>A (p.Ser822=) c.2505T>A (p.Ser835=) c.1243T>A c.2493T>A (p.Ser831=) c.384T>A (p.Ser128=) n.481T>A n.2106T>A c.1454T>A c.527T>A | |
| 12 | g.6593218G>A | CA383592431 | CHD4 | c.2486C>T (p.Ser829Phe) c.2525C>T (p.Ser842Phe) c.2516C>T (p.Ser839Phe) c.2451C>T c.2465C>T (p.Ser822Phe) c.2504C>T (p.Ser835Phe) c.1242C>T c.2492C>T (p.Ser831Phe) c.383C>T (p.Ser128Phe) n.480C>T n.2105C>T c.1453C>T c.526C>T | |
| 12 | g.6593218G>C | CA6411944 | CHD4 | c.2486C>G (p.Ser829Cys) c.2525C>G (p.Ser842Cys) c.2516C>G (p.Ser839Cys) c.2451C>G c.2465C>G (p.Ser822Cys) c.2504C>G (p.Ser835Cys) c.1242C>G c.2492C>G (p.Ser831Cys) c.383C>G (p.Ser128Cys) n.480C>G n.2105C>G c.1453C>G c.526C>G | dbSNP ExAC gnomAD v2 |
| 12 | g.6593218G= | CA2014149253 | CHD4 | c.2486C= (p.Ser829=) c.2525C= (p.Ser842=) c.2516C= (p.Ser839=) c.2451C= c.2465C= (p.Ser822=) c.2504C= (p.Ser835=) c.1242C= c.2492C= (p.Ser831=) c.383C= (p.Ser128=) n.480C= n.2105C= c.1453C= c.526C= | |
| 12 | g.6593218G>T | CA383592435 | CHD4 | c.2486C>A (p.Ser829Tyr) c.2525C>A (p.Ser842Tyr) c.2516C>A (p.Ser839Tyr) c.2451C>A c.2465C>A (p.Ser822Tyr) c.2504C>A (p.Ser835Tyr) c.1242C>A c.2492C>A (p.Ser831Tyr) c.383C>A (p.Ser128Tyr) n.480C>A n.2105C>A c.1453C>A c.526C>A | |
| 12 | g.6593219A= | CA2014149256 | CHD4 | c.2485T= (p.Ser829=) c.2524T= (p.Ser842=) c.2515T= (p.Ser839=) c.2450T= c.2464T= (p.Ser822=) c.2503T= (p.Ser835=) c.1241T= c.2491T= (p.Ser831=) c.382T= (p.Ser128=) n.479T= n.2104T= c.1452T= c.525T= | |
| 12 | g.6593219A>C | CA383592438 | CHD4 | c.2485T>G (p.Ser829Ala) c.2524T>G (p.Ser842Ala) c.2515T>G (p.Ser839Ala) c.2450T>G c.2464T>G (p.Ser822Ala) c.2503T>G (p.Ser835Ala) c.1241T>G c.2491T>G (p.Ser831Ala) c.382T>G (p.Ser128Ala) n.479T>G n.2104T>G c.1452T>G c.525T>G | |
| 12 | g.6593219A>G | CA383592441 | CHD4 | c.2485T>C (p.Ser829Pro) c.2524T>C (p.Ser842Pro) c.2515T>C (p.Ser839Pro) c.2450T>C c.2464T>C (p.Ser822Pro) c.2503T>C (p.Ser835Pro) c.1241T>C c.2491T>C (p.Ser831Pro) c.382T>C (p.Ser128Pro) n.479T>C n.2104T>C c.1452T>C c.525T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593219A>T | CA383592442 | CHD4 | c.2485T>A (p.Ser829Thr) c.2524T>A (p.Ser842Thr) c.2515T>A (p.Ser839Thr) c.2450T>A c.2464T>A (p.Ser822Thr) c.2503T>A (p.Ser835Thr) c.1241T>A c.2491T>A (p.Ser831Thr) c.382T>A (p.Ser128Thr) n.479T>A n.2104T>A c.1452T>A c.525T>A | |
| 12 | g.6593220T>A | CA478132059 | CHD4 | c.2484A>T (p.Ala828=) c.2523A>T (p.Ala841=) c.2514A>T (p.Ala838=) c.2449A>T c.2463A>T (p.Ala821=) c.2502A>T (p.Ala834=) c.1240A>T c.2490A>T (p.Ala830=) c.381A>T (p.Ala127=) n.478A>T n.2103A>T c.1451A>T c.524A>T | |
| 12 | g.6593220T>C | CA478132058 | CHD4 | c.2484A>G (p.Ala828=) c.2523A>G (p.Ala841=) c.2514A>G (p.Ala838=) c.2449A>G c.2463A>G (p.Ala821=) c.2502A>G (p.Ala834=) c.1240A>G c.2490A>G (p.Ala830=) c.381A>G (p.Ala127=) n.478A>G n.2103A>G c.1451A>G c.524A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593220T>G | CA478132060 | CHD4 | c.2484A>C (p.Ala828=) c.2523A>C (p.Ala841=) c.2514A>C (p.Ala838=) c.2449A>C c.2463A>C (p.Ala821=) c.2502A>C (p.Ala834=) c.1240A>C c.2490A>C (p.Ala830=) c.381A>C (p.Ala127=) n.478A>C n.2103A>C c.1451A>C c.524A>C | |
| 12 | g.6593220T= | CA2014149258 | CHD4 | c.2484A= (p.Ala828=) c.2523A= (p.Ala841=) c.2514A= (p.Ala838=) c.2449A= c.2463A= (p.Ala821=) c.2502A= (p.Ala834=) c.1240A= c.2490A= (p.Ala830=) c.381A= (p.Ala127=) n.478A= n.2103A= c.1451A= c.524A= | |
| 12 | g.6593221G>A | CA383592445 | CHD4 | c.2483C>T (p.Ala828Val) c.2522C>T (p.Ala841Val) c.2513C>T (p.Ala838Val) c.2448C>T c.2462C>T (p.Ala821Val) c.2501C>T (p.Ala834Val) c.1239C>T c.2489C>T (p.Ala830Val) c.380C>T (p.Ala127Val) n.477C>T n.2102C>T c.1450C>T c.523C>T | COSMIC COSMIC COSMIC |
| 12 | g.6593221G>C | CA383592446 | CHD4 | c.2483C>G (p.Ala828Gly) c.2522C>G (p.Ala841Gly) c.2513C>G (p.Ala838Gly) c.2448C>G c.2462C>G (p.Ala821Gly) c.2501C>G (p.Ala834Gly) c.1239C>G c.2489C>G (p.Ala830Gly) c.380C>G (p.Ala127Gly) n.477C>G n.2102C>G c.1450C>G c.523C>G | |
| 12 | g.6593221G>T | CA383592443 | CHD4 | c.2483C>A (p.Ala828Glu) c.2522C>A (p.Ala841Glu) c.2513C>A (p.Ala838Glu) c.2448C>A c.2462C>A (p.Ala821Glu) c.2501C>A (p.Ala834Glu) c.1239C>A c.2489C>A (p.Ala830Glu) c.380C>A (p.Ala127Glu) n.477C>A n.2102C>A c.1450C>A c.523C>A | |
| 12 | g.6593222C>A | CA383592447 | CHD4 | c.2482G>T (p.Ala828Ser) c.2521G>T (p.Ala841Ser) c.2512G>T (p.Ala838Ser) c.2447G>T c.2461G>T (p.Ala821Ser) c.2500G>T (p.Ala834Ser) c.1238G>T c.2488G>T (p.Ala830Ser) c.379G>T (p.Ala127Ser) n.476G>T n.2101G>T c.1449G>T c.522G>T | gnomAD v4 |
| 12 | g.6593222C>G | CA383592449 | CHD4 | c.2482G>C (p.Ala828Pro) c.2521G>C (p.Ala841Pro) c.2512G>C (p.Ala838Pro) c.2447G>C c.2461G>C (p.Ala821Pro) c.2500G>C (p.Ala834Pro) c.1238G>C c.2488G>C (p.Ala830Pro) c.379G>C (p.Ala127Pro) n.476G>C n.2101G>C c.1449G>C c.522G>C | |
| 12 | g.6593222C>T | CA383592451 | CHD4 | c.2482G>A (p.Ala828Thr) c.2521G>A (p.Ala841Thr) c.2512G>A (p.Ala838Thr) c.2447G>A c.2461G>A (p.Ala821Thr) c.2500G>A (p.Ala834Thr) c.1238G>A c.2488G>A (p.Ala830Thr) c.379G>A (p.Ala127Thr) n.476G>A n.2101G>A c.1449G>A c.522G>A | gnomAD v4 |
| 12 | g.6593223C>A | CA383592454 | CHD4 | c.2481G>T (p.Glu827Asp) c.2520G>T (p.Glu840Asp) c.2511G>T (p.Glu837Asp) c.2446G>T c.2460G>T (p.Glu820Asp) c.2499G>T (p.Glu833Asp) c.1237G>T c.2487G>T (p.Glu829Asp) c.378G>T (p.Glu126Asp) n.475G>T n.2100G>T c.1448G>T c.521G>T | |
| 12 | g.6593223C= | CA2014149265 | CHD4 | c.2481G= (p.Glu827=) c.2520G= (p.Glu840=) c.2511G= (p.Glu837=) c.2446G= c.2460G= (p.Glu820=) c.2499G= (p.Glu833=) c.1237G= c.2487G= (p.Glu829=) c.378G= (p.Glu126=) n.475G= n.2100G= c.1448G= c.521G= | |
| 12 | g.6593223C>G | CA383592466 | CHD4 | c.2481G>C (p.Glu827Asp) c.2520G>C (p.Glu840Asp) c.2511G>C (p.Glu837Asp) c.2446G>C c.2460G>C (p.Glu820Asp) c.2499G>C (p.Glu833Asp) c.1237G>C c.2487G>C (p.Glu829Asp) c.378G>C (p.Glu126Asp) n.475G>C n.2100G>C c.1448G>C c.521G>C | |
| 12 | g.6593223C>T | CA6411945 | CHD4 | c.2481G>A (p.Glu827=) c.2520G>A (p.Glu840=) c.2511G>A (p.Glu837=) c.2446G>A c.2460G>A (p.Glu820=) c.2499G>A (p.Glu833=) c.1237G>A c.2487G>A (p.Glu829=) c.378G>A (p.Glu126=) n.475G>A n.2100G>A c.1448G>A c.521G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593224T>A | CA383592475 | CHD4 | c.2480A>T (p.Glu827Val) c.2519A>T (p.Glu840Val) c.2510A>T (p.Glu837Val) c.2445A>T c.2459A>T (p.Glu820Val) c.2498A>T (p.Glu833Val) c.1236A>T c.2486A>T (p.Glu829Val) c.377A>T (p.Glu126Val) n.474A>T n.2099A>T c.1447A>T c.520A>T | |
| 12 | g.6593224T>C | CA383592472 | CHD4 | c.2480A>G (p.Glu827Gly) c.2519A>G (p.Glu840Gly) c.2510A>G (p.Glu837Gly) c.2445A>G c.2459A>G (p.Glu820Gly) c.2498A>G (p.Glu833Gly) c.1236A>G c.2486A>G (p.Glu829Gly) c.377A>G (p.Glu126Gly) n.474A>G n.2099A>G c.1447A>G c.520A>G | |
| 12 | g.6593224T>G | CA383592473 | CHD4 | c.2480A>C (p.Glu827Ala) c.2519A>C (p.Glu840Ala) c.2510A>C (p.Glu837Ala) c.2445A>C c.2459A>C (p.Glu820Ala) c.2498A>C (p.Glu833Ala) c.1236A>C c.2486A>C (p.Glu829Ala) c.377A>C (p.Glu126Ala) n.474A>C n.2099A>C c.1447A>C c.520A>C | |
| 12 | g.6593225C>A | CA383592477 | CHD4 | c.2479G>T (p.Glu827Ter) c.2518G>T (p.Glu840Ter) c.2509G>T (p.Glu837Ter) c.2444G>T c.2458G>T (p.Glu820Ter) c.2497G>T (p.Glu833Ter) c.1235G>T c.2485G>T (p.Glu829Ter) c.376G>T (p.Glu126Ter) n.473G>T n.2098G>T c.1446G>T c.519G>T | |
| 12 | g.6593225C= | CA2014149273 | CHD4 | c.2479G= (p.Glu827=) c.2518G= (p.Glu840=) c.2509G= (p.Glu837=) c.2444G= c.2458G= (p.Glu820=) c.2497G= (p.Glu833=) c.1235G= c.2485G= (p.Glu829=) c.376G= (p.Glu126=) n.473G= n.2098G= c.1446G= c.519G= | |
| 12 | g.6593225C>G | CA232392921 | CHD4 | c.2479G>C (p.Glu827Gln) c.2518G>C (p.Glu840Gln) c.2509G>C (p.Glu837Gln) c.2444G>C c.2458G>C (p.Glu820Gln) c.2497G>C (p.Glu833Gln) c.1235G>C c.2485G>C (p.Glu829Gln) c.376G>C (p.Glu126Gln) n.473G>C n.2098G>C c.1446G>C c.519G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593225C>T | CA383592480 | CHD4 | c.2479G>A (p.Glu827Lys) c.2518G>A (p.Glu840Lys) c.2509G>A (p.Glu837Lys) c.2444G>A c.2458G>A (p.Glu820Lys) c.2497G>A (p.Glu833Lys) c.1235G>A c.2485G>A (p.Glu829Lys) c.376G>A (p.Glu126Lys) n.473G>A n.2098G>A c.1446G>A c.519G>A | |
| 12 | g.6593226T>A | CA383592483 | CHD4 | c.2478A>T (p.Lys826Asn) c.2517A>T (p.Lys839Asn) c.2508A>T (p.Lys836Asn) c.2443A>T c.2457A>T (p.Lys819Asn) c.2496A>T (p.Lys832Asn) c.1234A>T c.2484A>T (p.Lys828Asn) c.375A>T (p.Lys125Asn) n.472A>T n.2097A>T c.1445A>T c.518A>T | |
| 12 | g.6593226T>C | CA478132064 | CHD4 | c.2478A>G (p.Lys826=) c.2517A>G (p.Lys839=) c.2508A>G (p.Lys836=) c.2443A>G c.2457A>G (p.Lys819=) c.2496A>G (p.Lys832=) c.1234A>G c.2484A>G (p.Lys828=) c.375A>G (p.Lys125=) n.472A>G n.2097A>G c.1445A>G c.518A>G | |
| 12 | g.6593226T>G | CA383592484 | CHD4 | c.2478A>C (p.Lys826Asn) c.2517A>C (p.Lys839Asn) c.2508A>C (p.Lys836Asn) c.2443A>C c.2457A>C (p.Lys819Asn) c.2496A>C (p.Lys832Asn) c.1234A>C c.2484A>C (p.Lys828Asn) c.375A>C (p.Lys125Asn) n.472A>C n.2097A>C c.1445A>C c.518A>C | |
| 12 | g.6593227T>A | CA383592486 | CHD4 | c.2477A>T (p.Lys826Ile) c.2516A>T (p.Lys839Ile) c.2507A>T (p.Lys836Ile) c.2442A>T c.2456A>T (p.Lys819Ile) c.2495A>T (p.Lys832Ile) c.1233A>T c.2483A>T (p.Lys828Ile) c.374A>T (p.Lys125Ile) n.471A>T n.2096A>T c.1444A>T c.517A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593227T>C | CA6411946 | CHD4 | c.2477A>G (p.Lys826Arg) c.2516A>G (p.Lys839Arg) c.2507A>G (p.Lys836Arg) c.2442A>G c.2456A>G (p.Lys819Arg) c.2495A>G (p.Lys832Arg) c.1233A>G c.2483A>G (p.Lys828Arg) c.374A>G (p.Lys125Arg) n.471A>G n.2096A>G c.1444A>G c.517A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593227T>G | CA383592489 | CHD4 | c.2477A>C (p.Lys826Thr) c.2516A>C (p.Lys839Thr) c.2507A>C (p.Lys836Thr) c.2442A>C c.2456A>C (p.Lys819Thr) c.2495A>C (p.Lys832Thr) c.1233A>C c.2483A>C (p.Lys828Thr) c.374A>C (p.Lys125Thr) n.471A>C n.2096A>C c.1444A>C c.517A>C | |
| 12 | g.6593227T= | CA2014149275 | CHD4 | c.2477A= (p.Lys826=) c.2516A= (p.Lys839=) c.2507A= (p.Lys836=) c.2442A= c.2456A= (p.Lys819=) c.2495A= (p.Lys832=) c.1233A= c.2483A= (p.Lys828=) c.374A= (p.Lys125=) n.471A= n.2096A= c.1444A= c.517A= | |
| 12 | g.6593228T>A | CA383592493 | CHD4 | c.2476A>T (p.Lys826Ter) c.2515A>T (p.Lys839Ter) c.2506A>T (p.Lys836Ter) c.2441A>T c.2455A>T (p.Lys819Ter) c.2494A>T (p.Lys832Ter) c.1232A>T c.2482A>T (p.Lys828Ter) c.373A>T (p.Lys125Ter) n.470A>T n.2095A>T c.1443A>T c.516A>T | |
| 12 | g.6593228T>C | CA383592497 | CHD4 | c.2476A>G (p.Lys826Glu) c.2515A>G (p.Lys839Glu) c.2506A>G (p.Lys836Glu) c.2441A>G c.2455A>G (p.Lys819Glu) c.2494A>G (p.Lys832Glu) c.1232A>G c.2482A>G (p.Lys828Glu) c.373A>G (p.Lys125Glu) n.470A>G n.2095A>G c.1443A>G c.516A>G | |
| 12 | g.6593228T>G | CA383592500 | CHD4 | c.2476A>C (p.Lys826Gln) c.2515A>C (p.Lys839Gln) c.2506A>C (p.Lys836Gln) c.2441A>C c.2455A>C (p.Lys819Gln) c.2494A>C (p.Lys832Gln) c.1232A>C c.2482A>C (p.Lys828Gln) c.373A>C (p.Lys125Gln) n.470A>C n.2095A>C c.1443A>C c.516A>C | |
| 12 | g.6593229C>A | CA383592504 | CHD4 | c.2476-1G>T (n.2476-1G>T) c.2515-1G>T (n.2515-1G>T) c.2506-1G>T (n.2506-1G>T) c.2441-1G>T c.2455-1G>T (n.2455-1G>T) c.2494-1G>T (n.2494-1G>T) c.1232-1G>T c.2482-1G>T (n.2482-1G>T) c.373-1G>T (n.373-1G>T) n.470-1G>T n.2095-1G>T c.1443-1G>T c.516-1G>T | |
| 12 | g.6593229C>G | CA383592506 | CHD4 | c.2476-1G>C (n.2476-1G>C) c.2515-1G>C (n.2515-1G>C) c.2506-1G>C (n.2506-1G>C) c.2441-1G>C c.2455-1G>C (n.2455-1G>C) c.2494-1G>C (n.2494-1G>C) c.1232-1G>C c.2482-1G>C (n.2482-1G>C) c.373-1G>C (n.373-1G>C) n.470-1G>C n.2095-1G>C c.1443-1G>C c.516-1G>C | |
| 12 | g.6593229C>T | CA383592508 | CHD4 | c.2476-1G>A (n.2476-1G>A) c.2515-1G>A (n.2515-1G>A) c.2506-1G>A (n.2506-1G>A) c.2441-1G>A c.2455-1G>A (n.2455-1G>A) c.2494-1G>A (n.2494-1G>A) c.1232-1G>A c.2482-1G>A (n.2482-1G>A) c.373-1G>A (n.373-1G>A) n.470-1G>A n.2095-1G>A c.1443-1G>A c.516-1G>A | |
| 12 | g.6593230T>A | CA383592510 | CHD4 | c.2476-2A>T (n.2476-2A>T) c.2515-2A>T (n.2515-2A>T) c.2506-2A>T (n.2506-2A>T) c.2441-2A>T c.2455-2A>T (n.2455-2A>T) c.2494-2A>T (n.2494-2A>T) c.1232-2A>T c.2482-2A>T (n.2482-2A>T) c.373-2A>T (n.373-2A>T) n.470-2A>T n.2095-2A>T c.1443-2A>T c.516-2A>T | |
| 12 | g.6593230T>C | CA383592513 | CHD4 | c.2476-2A>G (n.2476-2A>G) c.2515-2A>G (n.2515-2A>G) c.2506-2A>G (n.2506-2A>G) c.2441-2A>G c.2455-2A>G (n.2455-2A>G) c.2494-2A>G (n.2494-2A>G) c.1232-2A>G c.2482-2A>G (n.2482-2A>G) c.373-2A>G (n.373-2A>G) n.470-2A>G n.2095-2A>G c.1443-2A>G c.516-2A>G | |
| 12 | g.6593230T>G | CA383592514 | CHD4 | c.2476-2A>C (n.2476-2A>C) c.2515-2A>C (n.2515-2A>C) c.2506-2A>C (n.2506-2A>C) c.2441-2A>C c.2455-2A>C (n.2455-2A>C) c.2494-2A>C (n.2494-2A>C) c.1232-2A>C c.2482-2A>C (n.2482-2A>C) c.373-2A>C (n.373-2A>C) n.470-2A>C n.2095-2A>C c.1443-2A>C c.516-2A>C | |
| 12 | g.6593230T= | CA2014149278 | CHD4 | c.2476-2A= (n.2476-2A=) c.2515-2A= (n.2515-2A=) c.2506-2A= (n.2506-2A=) c.2441-2A= c.2455-2A= (n.2455-2A=) c.2494-2A= (n.2494-2A=) c.1232-2A= c.2482-2A= (n.2482-2A=) c.373-2A= (n.373-2A=) n.470-2A= n.2095-2A= c.1443-2A= c.516-2A= | |
| 12 | g.6593231_6593232insAGAG | CA603485110 | CHD4 | c.2476-3_2476-2insTCTC (n.2476-3_2476-2insTCTC) c.2515-3_2515-2insTCTC (n.2515-3_2515-2insTCTC) c.2506-3_2506-2insTCTC (n.2506-3_2506-2insTCTC) c.2441-3_2441-2insTCTC c.2455-3_2455-2insTCTC (n.2455-3_2455-2insTCTC) c.2494-3_2494-2insTCTC (n.2494-3_2494-2insTCTC) c.1232-3_1232-2insTCTC c.2482-3_2482-2insTCTC (n.2482-3_2482-2insTCTC) c.373-3_373-2insTCTC (n.373-3_373-2insTCTC) n.470-3_470-2insTCTC n.2095-3_2095-2insTCTC c.1443-3_1443-2insTCTC c.516-3_516-2insTCTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593232C= | CA2014149287 | CHD4 | c.2476-4G= (n.2476-4G=) c.2515-4G= (n.2515-4G=) c.2506-4G= (n.2506-4G=) c.2441-4G= c.2455-4G= (n.2455-4G=) c.2494-4G= (n.2494-4G=) c.1232-4G= c.2482-4G= (n.2482-4G=) c.373-4G= (n.373-4G=) n.470-4G= n.2095-4G= c.1443-4G= c.516-4G= | |
| 12 | g.6593232C>T | CA2014149284 | CHD4 | c.2476-4G>A (n.2476-4G>A) c.2515-4G>A (n.2515-4G>A) c.2506-4G>A (n.2506-4G>A) c.2441-4G>A c.2455-4G>A (n.2455-4G>A) c.2494-4G>A (n.2494-4G>A) c.1232-4G>A c.2482-4G>A (n.2482-4G>A) c.373-4G>A (n.373-4G>A) n.470-4G>A n.2095-4G>A c.1443-4G>A c.516-4G>A | dbSNP |
| 12 | g.6593234C>A | CA2617296589 | CHD4 | c.2476-6G>T (n.2476-6G>T) c.2515-6G>T (n.2515-6G>T) c.2506-6G>T (n.2506-6G>T) c.2441-6G>T c.2455-6G>T (n.2455-6G>T) c.2494-6G>T (n.2494-6G>T) c.1232-6G>T c.2482-6G>T (n.2482-6G>T) c.373-6G>T (n.373-6G>T) n.470-6G>T n.2095-6G>T c.1443-6G>T c.516-6G>T | gnomAD v4 |
| 12 | g.6593234C= | CA2014149290 | CHD4 | c.2476-6G= (n.2476-6G=) c.2515-6G= (n.2515-6G=) c.2506-6G= (n.2506-6G=) c.2441-6G= c.2455-6G= (n.2455-6G=) c.2494-6G= (n.2494-6G=) c.1232-6G= c.2482-6G= (n.2482-6G=) c.373-6G= (n.373-6G=) n.470-6G= n.2095-6G= c.1443-6G= c.516-6G= | |
| 12 | g.6593234C>T | CA603485111 | CHD4 | c.2476-6G>A (n.2476-6G>A) c.2515-6G>A (n.2515-6G>A) c.2506-6G>A (n.2506-6G>A) c.2441-6G>A c.2455-6G>A (n.2455-6G>A) c.2494-6G>A (n.2494-6G>A) c.1232-6G>A c.2482-6G>A (n.2482-6G>A) c.373-6G>A (n.373-6G>A) n.470-6G>A n.2095-6G>A c.1443-6G>A c.516-6G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593236T>C | CA2575058113 | CHD4 | c.2476-8A>G (n.2476-8A>G) c.2515-8A>G (n.2515-8A>G) c.2506-8A>G (n.2506-8A>G) c.2441-8A>G c.2455-8A>G (n.2455-8A>G) c.2494-8A>G (n.2494-8A>G) c.1232-8A>G c.2482-8A>G (n.2482-8A>G) c.373-8A>G (n.373-8A>G) n.470-8A>G n.2095-8A>G c.1443-8A>G c.516-8A>G | gnomAD v4 |
| 12 | g.6593238_6593240dup | CA2794422105 | CHD4 | c.2476-11_2476-9dup (n.2476-11_2476-9dup) c.2515-11_2515-9dup (n.2515-11_2515-9dup) c.2506-11_2506-9dup (n.2506-11_2506-9dup) c.2441-11_2441-9dup c.2455-11_2455-9dup (n.2455-11_2455-9dup) c.2494-11_2494-9dup (n.2494-11_2494-9dup) c.1232-11_1232-9dup c.2482-11_2482-9dup (n.2482-11_2482-9dup) c.373-11_373-9dup (n.373-11_373-9dup) n.470-11_470-9dup n.2095-11_2095-9dup c.1443-11_1443-9dup c.516-11_516-9dup | |
| 12 | g.6593240G>A | CA2575058114 | CHD4 | c.2476-12C>T (n.2476-12C>T) c.2515-12C>T (n.2515-12C>T) c.2506-12C>T (n.2506-12C>T) c.2441-12C>T c.2455-12C>T (n.2455-12C>T) c.2494-12C>T (n.2494-12C>T) c.1232-12C>T c.2482-12C>T (n.2482-12C>T) c.373-12C>T (n.373-12C>T) n.470-12C>T n.2095-12C>T c.1443-12C>T c.516-12C>T | |
| 12 | g.6593240G>C | CA2014149293 | CHD4 | c.2476-12C>G (n.2476-12C>G) c.2515-12C>G (n.2515-12C>G) c.2506-12C>G (n.2506-12C>G) c.2441-12C>G c.2455-12C>G (n.2455-12C>G) c.2494-12C>G (n.2494-12C>G) c.1232-12C>G c.2482-12C>G (n.2482-12C>G) c.373-12C>G (n.373-12C>G) n.470-12C>G n.2095-12C>G c.1443-12C>G c.516-12C>G | dbSNP gnomAD v4 |
| 12 | g.6593240G= | CA2014149292 | CHD4 | c.2476-12C= (n.2476-12C=) c.2515-12C= (n.2515-12C=) c.2506-12C= (n.2506-12C=) c.2441-12C= c.2455-12C= (n.2455-12C=) c.2494-12C= (n.2494-12C=) c.1232-12C= c.2482-12C= (n.2482-12C=) c.373-12C= (n.373-12C=) n.470-12C= n.2095-12C= c.1443-12C= c.516-12C= | |
| 12 | g.6593241G>A | CA2617296590 | CHD4 | c.2476-13C>T (n.2476-13C>T) c.2515-13C>T (n.2515-13C>T) c.2506-13C>T (n.2506-13C>T) c.2441-13C>T c.2455-13C>T (n.2455-13C>T) c.2494-13C>T (n.2494-13C>T) c.1232-13C>T c.2482-13C>T (n.2482-13C>T) c.373-13C>T (n.373-13C>T) n.470-13C>T n.2095-13C>T c.1443-13C>T c.516-13C>T | gnomAD v4 |
| 12 | g.6593242C>A | CA2617296591 | CHD4 | c.2476-14G>T (n.2476-14G>T) c.2515-14G>T (n.2515-14G>T) c.2506-14G>T (n.2506-14G>T) c.2441-14G>T c.2455-14G>T (n.2455-14G>T) c.2494-14G>T (n.2494-14G>T) c.1232-14G>T c.2482-14G>T (n.2482-14G>T) c.373-14G>T (n.373-14G>T) n.470-14G>T n.2095-14G>T c.1443-14G>T c.516-14G>T | gnomAD v4 |
| 12 | g.6593243A>G | CA2575058115 | CHD4 | c.2476-15T>C (n.2476-15T>C) c.2515-15T>C (n.2515-15T>C) c.2506-15T>C (n.2506-15T>C) c.2441-15T>C c.2455-15T>C (n.2455-15T>C) c.2494-15T>C (n.2494-15T>C) c.1232-15T>C c.2482-15T>C (n.2482-15T>C) c.373-15T>C (n.373-15T>C) n.470-15T>C n.2095-15T>C c.1443-15T>C c.516-15T>C | |
| 12 | g.6593245C= | CA2014149294 | CHD4 | c.2476-17G= (n.2476-17G=) c.2515-17G= (n.2515-17G=) c.2506-17G= (n.2506-17G=) c.2441-17G= c.2455-17G= (n.2455-17G=) c.2494-17G= (n.2494-17G=) c.1232-17G= c.2482-17G= (n.2482-17G=) c.373-17G= (n.373-17G=) n.470-17G= n.2095-17G= c.1443-17G= c.516-17G= | |
| 12 | g.6593245C>T | CA2014149296 | CHD4 | c.2476-17G>A (n.2476-17G>A) c.2515-17G>A (n.2515-17G>A) c.2506-17G>A (n.2506-17G>A) c.2441-17G>A c.2455-17G>A (n.2455-17G>A) c.2494-17G>A (n.2494-17G>A) c.1232-17G>A c.2482-17G>A (n.2482-17G>A) c.373-17G>A (n.373-17G>A) n.470-17G>A n.2095-17G>A c.1443-17G>A c.516-17G>A | dbSNP gnomAD v4 |
| 12 | g.6593246T>C | CA6411947 | CHD4 | c.2476-18A>G (n.2476-18A>G) c.2515-18A>G (n.2515-18A>G) c.2506-18A>G (n.2506-18A>G) c.2441-18A>G c.2455-18A>G (n.2455-18A>G) c.2494-18A>G (n.2494-18A>G) c.1232-18A>G c.2482-18A>G (n.2482-18A>G) c.373-18A>G (n.373-18A>G) n.470-18A>G n.2095-18A>G c.1443-18A>G c.516-18A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6593246T>G | CA2014149299 | CHD4 | c.2476-18A>C (n.2476-18A>C) c.2515-18A>C (n.2515-18A>C) c.2506-18A>C (n.2506-18A>C) c.2441-18A>C c.2455-18A>C (n.2455-18A>C) c.2494-18A>C (n.2494-18A>C) c.1232-18A>C c.2482-18A>C (n.2482-18A>C) c.373-18A>C (n.373-18A>C) n.470-18A>C n.2095-18A>C c.1443-18A>C c.516-18A>C | dbSNP |
| 12 | g.6593246T= | CA2014149297 | CHD4 | c.2476-18A= (n.2476-18A=) c.2515-18A= (n.2515-18A=) c.2506-18A= (n.2506-18A=) c.2441-18A= c.2455-18A= (n.2455-18A=) c.2494-18A= (n.2494-18A=) c.1232-18A= c.2482-18A= (n.2482-18A=) c.373-18A= (n.373-18A=) n.470-18A= n.2095-18A= c.1443-18A= c.516-18A= | |
| 12 | g.6593247T= | CA2014149300 | CHD4 | c.2476-19A= (n.2476-19A=) c.2515-19A= (n.2515-19A=) c.2506-19A= (n.2506-19A=) c.2441-19A= c.2455-19A= (n.2455-19A=) c.2494-19A= (n.2494-19A=) c.1232-19A= c.2482-19A= (n.2482-19A=) c.373-19A= (n.373-19A=) n.470-19A= n.2095-19A= c.1443-19A= c.516-19A= | |
| 12 | g.6593248G>A | CA691055180 | CHD4 | c.2476-20C>T (n.2476-20C>T) c.2515-20C>T (n.2515-20C>T) c.2506-20C>T (n.2506-20C>T) c.2441-20C>T c.2455-20C>T (n.2455-20C>T) c.2494-20C>T (n.2494-20C>T) c.1232-20C>T c.2482-20C>T (n.2482-20C>T) c.373-20C>T (n.373-20C>T) n.470-20C>T n.2095-20C>T c.1443-20C>T c.516-20C>T | dbSNP |
| 12 | g.6593248G>C | CA603485112 | CHD4 | c.2476-20C>G (n.2476-20C>G) c.2515-20C>G (n.2515-20C>G) c.2506-20C>G (n.2506-20C>G) c.2441-20C>G c.2455-20C>G (n.2455-20C>G) c.2494-20C>G (n.2494-20C>G) c.1232-20C>G c.2482-20C>G (n.2482-20C>G) c.373-20C>G (n.373-20C>G) n.470-20C>G n.2095-20C>G c.1443-20C>G c.516-20C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593248G= | CA2014149305 | CHD4 | c.2476-20C= (n.2476-20C=) c.2515-20C= (n.2515-20C=) c.2506-20C= (n.2506-20C=) c.2441-20C= c.2455-20C= (n.2455-20C=) c.2494-20C= (n.2494-20C=) c.1232-20C= c.2482-20C= (n.2482-20C=) c.373-20C= (n.373-20C=) n.470-20C= n.2095-20C= c.1443-20C= c.516-20C= | |
| 12 | g.6593249dup | CA691055187 | CHD4 | c.2476-20dup (n.2476-20dup) c.2515-20dup (n.2515-20dup) c.2506-20dup (n.2506-20dup) c.2441-20dup c.2455-20dup (n.2455-20dup) c.2494-20dup (n.2494-20dup) c.1232-20dup c.2482-20dup (n.2482-20dup) c.373-20dup (n.373-20dup) n.470-20dup n.2095-20dup c.1443-20dup c.516-20dup | dbSNP |
| 12 | g.6593248_6593258delinsGGTCACTACTA | CA2014149306 | CHD4 | c.2476-30_2476-20delinsTAGTAGTGACC (n.2476-30_2476-20delinsTAGTAGTGACC) c.2515-30_2515-20delinsTAGTAGTGACC (n.2515-30_2515-20delinsTAGTAGTGACC) c.2506-30_2506-20delinsTAGTAGTGACC (n.2506-30_2506-20delinsTAGTAGTGACC) c.2441-30_2441-20delinsTAGTAGTGACC c.2455-30_2455-20delinsTAGTAGTGACC (n.2455-30_2455-20delinsTAGTAGTGACC) c.2494-30_2494-20delinsTAGTAGTGACC (n.2494-30_2494-20delinsTAGTAGTGACC) c.1232-30_1232-20delinsTAGTAGTGACC c.2482-30_2482-20delinsTAGTAGTGACC (n.2482-30_2482-20delinsTAGTAGTGACC) c.373-30_373-20delinsTAGTAGTGACC (n.373-30_373-20delinsTAGTAGTGACC) n.470-30_470-20delinsTAGTAGTGACC n.2095-30_2095-20delinsTAGTAGTGACC c.1443-30_1443-20delinsTAGTAGTGACC c.516-30_516-20delinsTAGTAGTGACC | |
| 12 | g.6593249G>A | CA6411948 | CHD4 | c.2476-21C>T (n.2476-21C>T) c.2515-21C>T (n.2515-21C>T) c.2506-21C>T (n.2506-21C>T) c.2441-21C>T c.2455-21C>T (n.2455-21C>T) c.2494-21C>T (n.2494-21C>T) c.1232-21C>T c.2482-21C>T (n.2482-21C>T) c.373-21C>T (n.373-21C>T) n.470-21C>T n.2095-21C>T c.1443-21C>T c.516-21C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593249G= | CA2014149311 | CHD4 | c.2476-21C= (n.2476-21C=) c.2515-21C= (n.2515-21C=) c.2506-21C= (n.2506-21C=) c.2441-21C= c.2455-21C= (n.2455-21C=) c.2494-21C= (n.2494-21C=) c.1232-21C= c.2482-21C= (n.2482-21C=) c.373-21C= (n.373-21C=) n.470-21C= n.2095-21C= c.1443-21C= c.516-21C= | |
| 12 | g.6593253_6593262del | CA691055190 | CHD4 | c.2476-30_2476-21del (n.2476-30_2476-21del) c.2515-30_2515-21del (n.2515-30_2515-21del) c.2506-30_2506-21del (n.2506-30_2506-21del) c.2441-30_2441-21del c.2455-30_2455-21del (n.2455-30_2455-21del) c.2494-30_2494-21del (n.2494-30_2494-21del) c.1232-30_1232-21del c.2482-30_2482-21del (n.2482-30_2482-21del) c.373-30_373-21del (n.373-30_373-21del) n.470-30_470-21del n.2095-30_2095-21del c.1443-30_1443-21del c.516-30_516-21del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593251C>T | CA2617296592 | CHD4 | c.2476-23G>A (n.2476-23G>A) c.2515-23G>A (n.2515-23G>A) c.2506-23G>A (n.2506-23G>A) c.2441-23G>A c.2455-23G>A (n.2455-23G>A) c.2494-23G>A (n.2494-23G>A) c.1232-23G>A c.2482-23G>A (n.2482-23G>A) c.373-23G>A (n.373-23G>A) n.470-23G>A n.2095-23G>A c.1443-23G>A c.516-23G>A | gnomAD v4 |
| 12 | g.6593252_6593253delinsAC | CA2014149314 | CHD4 | c.2476-25_2476-24delinsGT (n.2476-25_2476-24delinsGT) c.2515-25_2515-24delinsGT (n.2515-25_2515-24delinsGT) c.2506-25_2506-24delinsGT (n.2506-25_2506-24delinsGT) c.2441-25_2441-24delinsGT c.2455-25_2455-24delinsGT (n.2455-25_2455-24delinsGT) c.2494-25_2494-24delinsGT (n.2494-25_2494-24delinsGT) c.1232-25_1232-24delinsGT c.2482-25_2482-24delinsGT (n.2482-25_2482-24delinsGT) c.373-25_373-24delinsGT (n.373-25_373-24delinsGT) n.470-25_470-24delinsGT n.2095-25_2095-24delinsGT c.1443-25_1443-24delinsGT c.516-25_516-24delinsGT | |
| 12 | g.6593253del | CA603485113 | CHD4 | c.2476-25del (n.2476-25del) c.2515-25del (n.2515-25del) c.2506-25del (n.2506-25del) c.2441-25del c.2455-25del (n.2455-25del) c.2494-25del (n.2494-25del) c.1232-25del c.2482-25del (n.2482-25del) c.373-25del (n.373-25del) n.470-25del n.2095-25del c.1443-25del c.516-25del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593253C= | CA2014149317 | CHD4 | c.2476-25G= (n.2476-25G=) c.2515-25G= (n.2515-25G=) c.2506-25G= (n.2506-25G=) c.2441-25G= c.2455-25G= (n.2455-25G=) c.2494-25G= (n.2494-25G=) c.1232-25G= c.2482-25G= (n.2482-25G=) c.373-25G= (n.373-25G=) n.470-25G= n.2095-25G= c.1443-25G= c.516-25G= | |
| 12 | g.6593253C>T | CA232392927 | CHD4 | c.2476-25G>A (n.2476-25G>A) c.2515-25G>A (n.2515-25G>A) c.2506-25G>A (n.2506-25G>A) c.2441-25G>A c.2455-25G>A (n.2455-25G>A) c.2494-25G>A (n.2494-25G>A) c.1232-25G>A c.2482-25G>A (n.2482-25G>A) c.373-25G>A (n.373-25G>A) n.470-25G>A n.2095-25G>A c.1443-25G>A c.516-25G>A | dbSNP |
| 12 | g.6593254T>A | CA2617296593 | CHD4 | c.2476-26A>T (n.2476-26A>T) c.2515-26A>T (n.2515-26A>T) c.2506-26A>T (n.2506-26A>T) c.2441-26A>T c.2455-26A>T (n.2455-26A>T) c.2494-26A>T (n.2494-26A>T) c.1232-26A>T c.2482-26A>T (n.2482-26A>T) c.373-26A>T (n.373-26A>T) n.470-26A>T n.2095-26A>T c.1443-26A>T c.516-26A>T | gnomAD v4 |
| 12 | g.6593254T>C | CA232392937 | CHD4 | c.2476-26A>G (n.2476-26A>G) c.2515-26A>G (n.2515-26A>G) c.2506-26A>G (n.2506-26A>G) c.2441-26A>G c.2455-26A>G (n.2455-26A>G) c.2494-26A>G (n.2494-26A>G) c.1232-26A>G c.2482-26A>G (n.2482-26A>G) c.373-26A>G (n.373-26A>G) n.470-26A>G n.2095-26A>G c.1443-26A>G c.516-26A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593254T= | CA2014149322 | CHD4 | c.2476-26A= (n.2476-26A=) c.2515-26A= (n.2515-26A=) c.2506-26A= (n.2506-26A=) c.2441-26A= c.2455-26A= (n.2455-26A=) c.2494-26A= (n.2494-26A=) c.1232-26A= c.2482-26A= (n.2482-26A=) c.373-26A= (n.373-26A=) n.470-26A= n.2095-26A= c.1443-26A= c.516-26A= | |
| 12 | g.6593254_6593255dup | CA603485114 | CHD4 | c.2476-27_2476-26dup (n.2476-27_2476-26dup) c.2515-27_2515-26dup (n.2515-27_2515-26dup) c.2506-27_2506-26dup (n.2506-27_2506-26dup) c.2441-27_2441-26dup c.2455-27_2455-26dup (n.2455-27_2455-26dup) c.2494-27_2494-26dup (n.2494-27_2494-26dup) c.1232-27_1232-26dup c.2482-27_2482-26dup (n.2482-27_2482-26dup) c.373-27_373-26dup (n.373-27_373-26dup) n.470-27_470-26dup n.2095-27_2095-26dup c.1443-27_1443-26dup c.516-27_516-26dup | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593255A= | CA2014149327 | CHD4 | c.2476-27T= (n.2476-27T=) c.2515-27T= (n.2515-27T=) c.2506-27T= (n.2506-27T=) c.2441-27T= c.2455-27T= (n.2455-27T=) c.2494-27T= (n.2494-27T=) c.1232-27T= c.2482-27T= (n.2482-27T=) c.373-27T= (n.373-27T=) n.470-27T= n.2095-27T= c.1443-27T= c.516-27T= | |
| 12 | g.6593255A>G | CA2014149326 | CHD4 | c.2476-27T>C (n.2476-27T>C) c.2515-27T>C (n.2515-27T>C) c.2506-27T>C (n.2506-27T>C) c.2441-27T>C c.2455-27T>C (n.2455-27T>C) c.2494-27T>C (n.2494-27T>C) c.1232-27T>C c.2482-27T>C (n.2482-27T>C) c.373-27T>C (n.373-27T>C) n.470-27T>C n.2095-27T>C c.1443-27T>C c.516-27T>C | dbSNP |
| 12 | g.6593256C>G | CA2617296594 | CHD4 | c.2476-28G>C (n.2476-28G>C) c.2515-28G>C (n.2515-28G>C) c.2506-28G>C (n.2506-28G>C) c.2441-28G>C c.2455-28G>C (n.2455-28G>C) c.2494-28G>C (n.2494-28G>C) c.1232-28G>C c.2482-28G>C (n.2482-28G>C) c.373-28G>C (n.373-28G>C) n.470-28G>C n.2095-28G>C c.1443-28G>C c.516-28G>C | gnomAD v4 |
| 12 | g.6593257T>C | CA232392941 | CHD4 | c.2476-29A>G (n.2476-29A>G) c.2515-29A>G (n.2515-29A>G) c.2506-29A>G (n.2506-29A>G) c.2441-29A>G c.2455-29A>G (n.2455-29A>G) c.2494-29A>G (n.2494-29A>G) c.1232-29A>G c.2482-29A>G (n.2482-29A>G) c.373-29A>G (n.373-29A>G) n.470-29A>G n.2095-29A>G c.1443-29A>G c.516-29A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593257T= | CA2014149328 | CHD4 | c.2476-29A= (n.2476-29A=) c.2515-29A= (n.2515-29A=) c.2506-29A= (n.2506-29A=) c.2441-29A= c.2455-29A= (n.2455-29A=) c.2494-29A= (n.2494-29A=) c.1232-29A= c.2482-29A= (n.2482-29A=) c.373-29A= (n.373-29A=) n.470-29A= n.2095-29A= c.1443-29A= c.516-29A= | |
| 12 | g.6593257_6593258insG | CA6411949 | CHD4 | c.2476-30_2476-29insC (n.2476-30_2476-29insC) c.2515-30_2515-29insC (n.2515-30_2515-29insC) c.2506-30_2506-29insC (n.2506-30_2506-29insC) c.2441-30_2441-29insC c.2455-30_2455-29insC (n.2455-30_2455-29insC) c.2494-30_2494-29insC (n.2494-30_2494-29insC) c.1232-30_1232-29insC c.2482-30_2482-29insC (n.2482-30_2482-29insC) c.373-30_373-29insC (n.373-30_373-29insC) n.470-30_470-29insC n.2095-30_2095-29insC c.1443-30_1443-29insC c.516-30_516-29insC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593258A= | CA2014149332 | CHD4 | c.2476-30T= (n.2476-30T=) c.2515-30T= (n.2515-30T=) c.2506-30T= (n.2506-30T=) c.2441-30T= c.2455-30T= (n.2455-30T=) c.2494-30T= (n.2494-30T=) c.1232-30T= c.2482-30T= (n.2482-30T=) c.373-30T= (n.373-30T=) n.470-30T= n.2095-30T= c.1443-30T= c.516-30T= | |
| 12 | g.6593258A>T | CA6411950 | CHD4 | c.2476-30T>A (n.2476-30T>A) c.2515-30T>A (n.2515-30T>A) c.2506-30T>A (n.2506-30T>A) c.2441-30T>A c.2455-30T>A (n.2455-30T>A) c.2494-30T>A (n.2494-30T>A) c.1232-30T>A c.2482-30T>A (n.2482-30T>A) c.373-30T>A (n.373-30T>A) n.470-30T>A n.2095-30T>A c.1443-30T>A c.516-30T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593259G>C | CA2014149335 | CHD4 | c.2476-31C>G (n.2476-31C>G) c.2515-31C>G (n.2515-31C>G) c.2506-31C>G (n.2506-31C>G) c.2441-31C>G c.2455-31C>G (n.2455-31C>G) c.2494-31C>G (n.2494-31C>G) c.1232-31C>G c.2482-31C>G (n.2482-31C>G) c.373-31C>G (n.373-31C>G) n.470-31C>G n.2095-31C>G c.1443-31C>G c.516-31C>G | dbSNP gnomAD v4 |
| 12 | g.6593259G= | CA2014149334 | CHD4 | c.2476-31C= (n.2476-31C=) c.2515-31C= (n.2515-31C=) c.2506-31C= (n.2506-31C=) c.2441-31C= c.2455-31C= (n.2455-31C=) c.2494-31C= (n.2494-31C=) c.1232-31C= c.2482-31C= (n.2482-31C=) c.373-31C= (n.373-31C=) n.470-31C= n.2095-31C= c.1443-31C= c.516-31C= | |
| 12 | g.6593259dup | CA2617296595 | CHD4 | c.2476-31dup (n.2476-31dup) c.2515-31dup (n.2515-31dup) c.2506-31dup (n.2506-31dup) c.2441-31dup c.2455-31dup (n.2455-31dup) c.2494-31dup (n.2494-31dup) c.1232-31dup c.2482-31dup (n.2482-31dup) c.373-31dup (n.373-31dup) n.470-31dup n.2095-31dup c.1443-31dup c.516-31dup | gnomAD v4 |
| 12 | g.6593261C>A | CA2617296596 | CHD4 | c.2476-33G>T (n.2476-33G>T) c.2515-33G>T (n.2515-33G>T) c.2506-33G>T (n.2506-33G>T) c.2441-33G>T c.2455-33G>T (n.2455-33G>T) c.2494-33G>T (n.2494-33G>T) c.1232-33G>T c.2482-33G>T (n.2482-33G>T) c.373-33G>T (n.373-33G>T) n.470-33G>T n.2095-33G>T c.1443-33G>T c.516-33G>T | gnomAD v4 |
| 12 | g.6593261C>T | CA2575058116 | CHD4 | c.2476-33G>A (n.2476-33G>A) c.2515-33G>A (n.2515-33G>A) c.2506-33G>A (n.2506-33G>A) c.2441-33G>A c.2455-33G>A (n.2455-33G>A) c.2494-33G>A (n.2494-33G>A) c.1232-33G>A c.2482-33G>A (n.2482-33G>A) c.373-33G>A (n.373-33G>A) n.470-33G>A n.2095-33G>A c.1443-33G>A c.516-33G>A | gnomAD v4 |
| 12 | g.6593262A>C | CA2617296597 | CHD4 | c.2476-34T>G (n.2476-34T>G) c.2515-34T>G (n.2515-34T>G) c.2506-34T>G (n.2506-34T>G) c.2441-34T>G c.2455-34T>G (n.2455-34T>G) c.2494-34T>G (n.2494-34T>G) c.1232-34T>G c.2482-34T>G (n.2482-34T>G) c.373-34T>G (n.373-34T>G) n.470-34T>G n.2095-34T>G c.1443-34T>G c.516-34T>G | gnomAD v4 |
| 12 | g.6593264T>C | CA2575058117 | CHD4 | c.2476-36A>G (n.2476-36A>G) c.2515-36A>G (n.2515-36A>G) c.2506-36A>G (n.2506-36A>G) c.2441-36A>G c.2455-36A>G (n.2455-36A>G) c.2494-36A>G (n.2494-36A>G) c.1232-36A>G c.2482-36A>G (n.2482-36A>G) c.373-36A>G (n.373-36A>G) n.470-36A>G n.2095-36A>G c.1443-36A>G c.516-36A>G | gnomAD v4 |
| 12 | g.6593268T>A | CA2014149337 | CHD4 | c.2476-40A>T (n.2476-40A>T) c.2515-40A>T (n.2515-40A>T) c.2506-40A>T (n.2506-40A>T) c.2441-40A>T c.2455-40A>T (n.2455-40A>T) c.2494-40A>T (n.2494-40A>T) c.1232-40A>T c.2482-40A>T (n.2482-40A>T) c.373-40A>T (n.373-40A>T) n.470-40A>T n.2095-40A>T c.1443-40A>T c.516-40A>T | dbSNP |
| 12 | g.6593268T= | CA2014149336 | CHD4 | c.2476-40A= (n.2476-40A=) c.2515-40A= (n.2515-40A=) c.2506-40A= (n.2506-40A=) c.2441-40A= c.2455-40A= (n.2455-40A=) c.2494-40A= (n.2494-40A=) c.1232-40A= c.2482-40A= (n.2482-40A=) c.373-40A= (n.373-40A=) n.470-40A= n.2095-40A= c.1443-40A= c.516-40A= | |
| 12 | g.6593270T>A | CA2725296833 | CHD4 | c.2476-42A>T (n.2476-42A>T) c.2515-42A>T (n.2515-42A>T) c.2506-42A>T (n.2506-42A>T) c.2441-42A>T c.2455-42A>T (n.2455-42A>T) c.2494-42A>T (n.2494-42A>T) c.1232-42A>T c.2482-42A>T (n.2482-42A>T) c.373-42A>T (n.373-42A>T) n.470-42A>T n.2095-42A>T c.1443-42A>T c.516-42A>T | dbSNP |
| 12 | g.6593270T>C | CA603485124 | CHD4 | c.2476-42A>G (n.2476-42A>G) c.2515-42A>G (n.2515-42A>G) c.2506-42A>G (n.2506-42A>G) c.2441-42A>G c.2455-42A>G (n.2455-42A>G) c.2494-42A>G (n.2494-42A>G) c.1232-42A>G c.2482-42A>G (n.2482-42A>G) c.373-42A>G (n.373-42A>G) n.470-42A>G n.2095-42A>G c.1443-42A>G c.516-42A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593270T>G | CA603485125 | CHD4 | c.2476-42A>C (n.2476-42A>C) c.2515-42A>C (n.2515-42A>C) c.2506-42A>C (n.2506-42A>C) c.2441-42A>C c.2455-42A>C (n.2455-42A>C) c.2494-42A>C (n.2494-42A>C) c.1232-42A>C c.2482-42A>C (n.2482-42A>C) c.373-42A>C (n.373-42A>C) n.470-42A>C n.2095-42A>C c.1443-42A>C c.516-42A>C | dbSNP gnomAD v2 |
| 12 | g.6593270T= | CA2014149340 | CHD4 | c.2476-42A= (n.2476-42A=) c.2515-42A= (n.2515-42A=) c.2506-42A= (n.2506-42A=) c.2441-42A= c.2455-42A= (n.2455-42A=) c.2494-42A= (n.2494-42A=) c.1232-42A= c.2482-42A= (n.2482-42A=) c.373-42A= (n.373-42A=) n.470-42A= n.2095-42A= c.1443-42A= c.516-42A= | |
| 12 | g.6593270_6593285del | CA2617296598 | CHD4 | c.2476-57_2476-42del (n.2476-57_2476-42del) c.2515-57_2515-42del (n.2515-57_2515-42del) c.2506-57_2506-42del (n.2506-57_2506-42del) c.2441-57_2441-42del c.2455-57_2455-42del (n.2455-57_2455-42del) c.2494-57_2494-42del (n.2494-57_2494-42del) c.1232-57_1232-42del c.2482-57_2482-42del (n.2482-57_2482-42del) c.373-57_373-42del (n.373-57_373-42del) n.470-57_470-42del n.2095-57_2095-42del c.1443-57_1443-42del c.516-57_516-42del | gnomAD v4 |
| 12 | g.6593273G>A | CA691055220 | CHD4 | c.2476-45C>T (n.2476-45C>T) c.2515-45C>T (n.2515-45C>T) c.2506-45C>T (n.2506-45C>T) c.2441-45C>T c.2455-45C>T (n.2455-45C>T) c.2494-45C>T (n.2494-45C>T) c.1232-45C>T c.2482-45C>T (n.2482-45C>T) c.373-45C>T (n.373-45C>T) n.470-45C>T n.2095-45C>T c.1443-45C>T c.516-45C>T | dbSNP |
| 12 | g.6593273G= | CA2014149342 | CHD4 | c.2476-45C= (n.2476-45C=) c.2515-45C= (n.2515-45C=) c.2506-45C= (n.2506-45C=) c.2441-45C= c.2455-45C= (n.2455-45C=) c.2494-45C= (n.2494-45C=) c.1232-45C= c.2482-45C= (n.2482-45C=) c.373-45C= (n.373-45C=) n.470-45C= n.2095-45C= c.1443-45C= c.516-45C= | |
| 12 | g.6593276A>G | CA2617296599 | CHD4 | c.2476-48T>C (n.2476-48T>C) c.2515-48T>C (n.2515-48T>C) c.2506-48T>C (n.2506-48T>C) c.2441-48T>C c.2455-48T>C (n.2455-48T>C) c.2494-48T>C (n.2494-48T>C) c.1232-48T>C c.2482-48T>C (n.2482-48T>C) c.373-48T>C (n.373-48T>C) n.470-48T>C n.2095-48T>C c.1443-48T>C c.516-48T>C | gnomAD v4 |
| 12 | g.6593277G>A | CA2617296600 | CHD4 | c.2476-49C>T (n.2476-49C>T) c.2515-49C>T (n.2515-49C>T) c.2506-49C>T (n.2506-49C>T) c.2441-49C>T c.2455-49C>T (n.2455-49C>T) c.2494-49C>T (n.2494-49C>T) c.1232-49C>T c.2482-49C>T (n.2482-49C>T) c.373-49C>T (n.373-49C>T) n.470-49C>T n.2095-49C>T c.1443-49C>T c.516-49C>T | gnomAD v4 |
| 12 | g.6593277G>C | CA603485126 | CHD4 | c.2476-49C>G (n.2476-49C>G) c.2515-49C>G (n.2515-49C>G) c.2506-49C>G (n.2506-49C>G) c.2441-49C>G c.2455-49C>G (n.2455-49C>G) c.2494-49C>G (n.2494-49C>G) c.1232-49C>G c.2482-49C>G (n.2482-49C>G) c.373-49C>G (n.373-49C>G) n.470-49C>G n.2095-49C>G c.1443-49C>G c.516-49C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6593277G= | CA2014149344 | CHD4 | c.2476-49C= (n.2476-49C=) c.2515-49C= (n.2515-49C=) c.2506-49C= (n.2506-49C=) c.2441-49C= c.2455-49C= (n.2455-49C=) c.2494-49C= (n.2494-49C=) c.1232-49C= c.2482-49C= (n.2482-49C=) c.373-49C= (n.373-49C=) n.470-49C= n.2095-49C= c.1443-49C= c.516-49C= | |
| 12 | g.6593278C>T | CA2506143649 | CHD4 | c.2476-50G>A (n.2476-50G>A) c.2515-50G>A (n.2515-50G>A) c.2506-50G>A (n.2506-50G>A) c.2441-50G>A c.2455-50G>A (n.2455-50G>A) c.2494-50G>A (n.2494-50G>A) c.1232-50G>A c.2482-50G>A (n.2482-50G>A) c.373-50G>A (n.373-50G>A) n.470-50G>A n.2095-50G>A c.1443-50G>A c.516-50G>A | gnomAD v4 |
| 12 | g.6593279A= | CA2014149347 | CHD4 | c.2476-51T= (n.2476-51T=) c.2515-51T= (n.2515-51T=) c.2506-51T= (n.2506-51T=) c.2441-51T= c.2455-51T= (n.2455-51T=) c.2494-51T= (n.2494-51T=) c.1232-51T= c.2482-51T= (n.2482-51T=) c.373-51T= (n.373-51T=) n.470-51T= n.2095-51T= c.1443-51T= c.516-51T= | |
| 12 | g.6593279A>G | CA232392949 | CHD4 | c.2476-51T>C (n.2476-51T>C) c.2515-51T>C (n.2515-51T>C) c.2506-51T>C (n.2506-51T>C) c.2441-51T>C c.2455-51T>C (n.2455-51T>C) c.2494-51T>C (n.2494-51T>C) c.1232-51T>C c.2482-51T>C (n.2482-51T>C) c.373-51T>C (n.373-51T>C) n.470-51T>C n.2095-51T>C c.1443-51T>C c.516-51T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6593280C= | CA2014149349 | CHD4 | c.2476-52G= (n.2476-52G=) c.2515-52G= (n.2515-52G=) c.2506-52G= (n.2506-52G=) c.2441-52G= c.2455-52G= (n.2455-52G=) c.2494-52G= (n.2494-52G=) c.1232-52G= c.2482-52G= (n.2482-52G=) c.373-52G= (n.373-52G=) n.470-52G= n.2095-52G= c.1443-52G= c.516-52G= | |
| 12 | g.6593280C>T | CA944367745 | CHD4 | c.2476-52G>A (n.2476-52G>A) c.2515-52G>A (n.2515-52G>A) c.2506-52G>A (n.2506-52G>A) c.2441-52G>A c.2455-52G>A (n.2455-52G>A) c.2494-52G>A (n.2494-52G>A) c.1232-52G>A c.2482-52G>A (n.2482-52G>A) c.373-52G>A (n.373-52G>A) n.470-52G>A n.2095-52G>A c.1443-52G>A c.516-52G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593283C= | CA2014149352 | CHD4 | c.2476-55G= (n.2476-55G=) c.2515-55G= (n.2515-55G=) c.2506-55G= (n.2506-55G=) c.2441-55G= c.2455-55G= (n.2455-55G=) c.2494-55G= (n.2494-55G=) c.1232-55G= c.2482-55G= (n.2482-55G=) c.373-55G= (n.373-55G=) n.470-55G= n.2095-55G= c.1443-55G= c.516-55G= | |
| 12 | g.6593283C>T | CA2014149353 | CHD4 | c.2476-55G>A (n.2476-55G>A) c.2515-55G>A (n.2515-55G>A) c.2506-55G>A (n.2506-55G>A) c.2441-55G>A c.2455-55G>A (n.2455-55G>A) c.2494-55G>A (n.2494-55G>A) c.1232-55G>A c.2482-55G>A (n.2482-55G>A) c.373-55G>A (n.373-55G>A) n.470-55G>A n.2095-55G>A c.1443-55G>A c.516-55G>A | dbSNP |
| 12 | g.6593284C= | CA2014149355 | CHD4 | c.2476-56G= (n.2476-56G=) c.2515-56G= (n.2515-56G=) c.2506-56G= (n.2506-56G=) c.2441-56G= c.2455-56G= (n.2455-56G=) c.2494-56G= (n.2494-56G=) c.1232-56G= c.2482-56G= (n.2482-56G=) c.373-56G= (n.373-56G=) n.470-56G= n.2095-56G= c.1443-56G= c.516-56G= | |
| 12 | g.6593284C>G | CA944367751 | CHD4 | c.2476-56G>C (n.2476-56G>C) c.2515-56G>C (n.2515-56G>C) c.2506-56G>C (n.2506-56G>C) c.2441-56G>C c.2455-56G>C (n.2455-56G>C) c.2494-56G>C (n.2494-56G>C) c.1232-56G>C c.2482-56G>C (n.2482-56G>C) c.373-56G>C (n.373-56G>C) n.470-56G>C n.2095-56G>C c.1443-56G>C c.516-56G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593284C>T | CA2617296601 | CHD4 | c.2476-56G>A (n.2476-56G>A) c.2515-56G>A (n.2515-56G>A) c.2506-56G>A (n.2506-56G>A) c.2441-56G>A c.2455-56G>A (n.2455-56G>A) c.2494-56G>A (n.2494-56G>A) c.1232-56G>A c.2482-56G>A (n.2482-56G>A) c.373-56G>A (n.373-56G>A) n.470-56G>A n.2095-56G>A c.1443-56G>A c.516-56G>A | gnomAD v4 |
| 12 | g.6593286G>A | CA232392951 | CHD4 | c.2476-58C>T (n.2476-58C>T) c.2515-58C>T (n.2515-58C>T) c.2506-58C>T (n.2506-58C>T) c.2441-58C>T c.2455-58C>T (n.2455-58C>T) c.2494-58C>T (n.2494-58C>T) c.1232-58C>T c.2482-58C>T (n.2482-58C>T) c.373-58C>T (n.373-58C>T) n.470-58C>T n.2095-58C>T c.1443-58C>T c.516-58C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593286G= | CA2014149358 | CHD4 | c.2476-58C= (n.2476-58C=) c.2515-58C= (n.2515-58C=) c.2506-58C= (n.2506-58C=) c.2441-58C= c.2455-58C= (n.2455-58C=) c.2494-58C= (n.2494-58C=) c.1232-58C= c.2482-58C= (n.2482-58C=) c.373-58C= (n.373-58C=) n.470-58C= n.2095-58C= c.1443-58C= c.516-58C= | |
| 12 | g.6593287G>A | CA2617296602 | CHD4 | c.2476-59C>T (n.2476-59C>T) c.2515-59C>T (n.2515-59C>T) c.2506-59C>T (n.2506-59C>T) c.2441-59C>T c.2455-59C>T (n.2455-59C>T) c.2494-59C>T (n.2494-59C>T) c.1232-59C>T c.2482-59C>T (n.2482-59C>T) c.373-59C>T (n.373-59C>T) n.470-59C>T n.2095-59C>T c.1443-59C>T c.516-59C>T | gnomAD v4 |
| 12 | g.6593287G>T | CA2617296603 | CHD4 | c.2476-59C>A (n.2476-59C>A) c.2515-59C>A (n.2515-59C>A) c.2506-59C>A (n.2506-59C>A) c.2441-59C>A c.2455-59C>A (n.2455-59C>A) c.2494-59C>A (n.2494-59C>A) c.1232-59C>A c.2482-59C>A (n.2482-59C>A) c.373-59C>A (n.373-59C>A) n.470-59C>A n.2095-59C>A c.1443-59C>A c.516-59C>A | gnomAD v4 |
| 12 | g.6593288A>G | CA2575058118 | CHD4 | c.2476-60T>C (n.2476-60T>C) c.2515-60T>C (n.2515-60T>C) c.2506-60T>C (n.2506-60T>C) c.2441-60T>C c.2455-60T>C (n.2455-60T>C) c.2494-60T>C (n.2494-60T>C) c.1232-60T>C c.2482-60T>C (n.2482-60T>C) c.373-60T>C (n.373-60T>C) n.470-60T>C n.2095-60T>C c.1443-60T>C c.516-60T>C | |
| 12 | g.6593289G>A | CA944367755 | CHD4 | c.2476-61C>T (n.2476-61C>T) c.2515-61C>T (n.2515-61C>T) c.2506-61C>T (n.2506-61C>T) c.2441-61C>T c.2455-61C>T (n.2455-61C>T) c.2494-61C>T (n.2494-61C>T) c.1232-61C>T c.2482-61C>T (n.2482-61C>T) c.373-61C>T (n.373-61C>T) n.470-61C>T n.2095-61C>T c.1443-61C>T c.516-61C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6593289G= | CA2014149360 | CHD4 | c.2476-61C= (n.2476-61C=) c.2515-61C= (n.2515-61C=) c.2506-61C= (n.2506-61C=) c.2441-61C= c.2455-61C= (n.2455-61C=) c.2494-61C= (n.2494-61C=) c.1232-61C= c.2482-61C= (n.2482-61C=) c.373-61C= (n.373-61C=) n.470-61C= n.2095-61C= c.1443-61C= c.516-61C= | |
| 12 | g.6593290A= | CA2014149363 | CHD4 | c.2476-62T= (n.2476-62T=) c.2515-62T= (n.2515-62T=) c.2506-62T= (n.2506-62T=) c.2441-62T= c.2455-62T= (n.2455-62T=) c.2494-62T= (n.2494-62T=) c.1232-62T= c.2482-62T= (n.2482-62T=) c.373-62T= (n.373-62T=) n.470-62T= n.2095-62T= c.1443-62T= c.516-62T= | |
| 12 | g.6593290A>T | CA2014149361 | CHD4 | c.2476-62T>A (n.2476-62T>A) c.2515-62T>A (n.2515-62T>A) c.2506-62T>A (n.2506-62T>A) c.2441-62T>A c.2455-62T>A (n.2455-62T>A) c.2494-62T>A (n.2494-62T>A) c.1232-62T>A c.2482-62T>A (n.2482-62T>A) c.373-62T>A (n.373-62T>A) n.470-62T>A n.2095-62T>A c.1443-62T>A c.516-62T>A | dbSNP |
| 12 | g.6593291C>A | CA2617296604 | CHD4 | c.2476-63G>T (n.2476-63G>T) c.2515-63G>T (n.2515-63G>T) c.2506-63G>T (n.2506-63G>T) c.2441-63G>T c.2455-63G>T (n.2455-63G>T) c.2494-63G>T (n.2494-63G>T) c.1232-63G>T c.2482-63G>T (n.2482-63G>T) c.373-63G>T (n.373-63G>T) n.470-63G>T n.2095-63G>T c.1443-63G>T c.516-63G>T | gnomAD v4 |
| 12 | g.6593291C= | CA2014149365 | CHD4 | c.2476-63G= (n.2476-63G=) c.2515-63G= (n.2515-63G=) c.2506-63G= (n.2506-63G=) c.2441-63G= c.2455-63G= (n.2455-63G=) c.2494-63G= (n.2494-63G=) c.1232-63G= c.2482-63G= (n.2482-63G=) c.373-63G= (n.373-63G=) n.470-63G= n.2095-63G= c.1443-63G= c.516-63G= | |
| 12 | g.6593291C>T | CA2014149366 | CHD4 | c.2476-63G>A (n.2476-63G>A) c.2515-63G>A (n.2515-63G>A) c.2506-63G>A (n.2506-63G>A) c.2441-63G>A c.2455-63G>A (n.2455-63G>A) c.2494-63G>A (n.2494-63G>A) c.1232-63G>A c.2482-63G>A (n.2482-63G>A) c.373-63G>A (n.373-63G>A) n.470-63G>A n.2095-63G>A c.1443-63G>A c.516-63G>A | dbSNP |