Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745426G>A | CA397503351 | GEMIN4 | c.2617C>T (p.His873Tyr) c.2584C>T (p.His862Tyr) c.2629C>T (p.His877Tyr) | |
17 | g.745426G>C | CA397503352 | GEMIN4 | c.2617C>G (p.His873Asp) c.2584C>G (p.His862Asp) c.2629C>G (p.His877Asp) | |
17 | g.745426G>T | CA397503353 | GEMIN4 | c.2617C>A (p.His873Asn) c.2584C>A (p.His862Asn) c.2629C>A (p.His877Asn) | |
17 | g.745427A>C | CA497383899 | GEMIN4 | c.2616T>G (p.Leu872=) c.2583T>G (p.Leu861=) c.2628T>G (p.Leu876=) | |
17 | g.745427A>G | CA497383901 | GEMIN4 | c.2616T>C (p.Leu872=) c.2583T>C (p.Leu861=) c.2628T>C (p.Leu876=) | |
17 | g.745427A>T | CA497383902 | GEMIN4 | c.2616T>A (p.Leu872=) c.2583T>A (p.Leu861=) c.2628T>A (p.Leu876=) | |
17 | g.745428A>C | CA397503354 | GEMIN4 | c.2615T>G (p.Leu872Arg) c.2582T>G (p.Leu861Arg) c.2627T>G (p.Leu876Arg) | |
17 | g.745428A>G | CA397503355 | GEMIN4 | c.2615T>C (p.Leu872Pro) c.2582T>C (p.Leu861Pro) c.2627T>C (p.Leu876Pro) | |
17 | g.745428A>T | CA397503356 | GEMIN4 | c.2615T>A (p.Leu872His) c.2582T>A (p.Leu861His) c.2627T>A (p.Leu876His) | |
17 | g.745429G>A | CA397503357 | GEMIN4 | c.2614C>T (p.Leu872Phe) c.2581C>T (p.Leu861Phe) c.2626C>T (p.Leu876Phe) | dbSNP |
17 | g.745429G>C | CA397503358 | GEMIN4 | c.2614C>G (p.Leu872Val) c.2581C>G (p.Leu861Val) c.2626C>G (p.Leu876Val) | ClinVar |
17 | g.745429G= | CA2242474235 | GEMIN4 | c.2614C= (p.Leu872=) c.2581C= (p.Leu861=) c.2626C= (p.Leu876=) | |
17 | g.745429G>T | CA397503359 | GEMIN4 | c.2614C>A (p.Leu872Ile) c.2581C>A (p.Leu861Ile) c.2626C>A (p.Leu876Ile) | |
17 | g.745430G>A | CA497383910 | GEMIN4 | c.2613C>T (p.Arg871=) c.2580C>T (p.Arg860=) c.2625C>T (p.Arg875=) | |
17 | g.745430G>C | CA497383911 | GEMIN4 | c.2613C>G (p.Arg871=) c.2580C>G (p.Arg860=) c.2625C>G (p.Arg875=) | |
17 | g.745430G>T | CA497383912 | GEMIN4 | c.2613C>A (p.Arg871=) c.2580C>A (p.Arg860=) c.2625C>A (p.Arg875=) | |
17 | g.745431C>A | CA397503360 | GEMIN4 | c.2612G>T (p.Arg871Leu) c.2579G>T (p.Arg860Leu) c.2624G>T (p.Arg875Leu) | |
17 | g.745431C= | CA2242474236 | GEMIN4 | c.2612G= (p.Arg871=) c.2579G= (p.Arg860=) c.2624G= (p.Arg875=) | |
17 | g.745431C>G | CA397503361 | GEMIN4 | c.2612G>C (p.Arg871Pro) c.2579G>C (p.Arg860Pro) c.2624G>C (p.Arg875Pro) | gnomAD v4 |
17 | g.745431C>T | CA8262388 | GEMIN4 | c.2612G>A (p.Arg871His) c.2579G>A (p.Arg860His) c.2624G>A (p.Arg875His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745432G>A | CA8262389 | GEMIN4 | c.2611C>T (p.Arg871Cys) c.2578C>T (p.Arg860Cys) c.2623C>T (p.Arg875Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745432G>C | CA397503363 | GEMIN4 | c.2611C>G (p.Arg871Gly) c.2578C>G (p.Arg860Gly) c.2623C>G (p.Arg875Gly) | dbSNP |
17 | g.745432G= | CA2242474237 | GEMIN4 | c.2611C= (p.Arg871=) c.2578C= (p.Arg860=) c.2623C= (p.Arg875=) | |
17 | g.745432G>T | CA397503362 | GEMIN4 | c.2611C>A (p.Arg871Ser) c.2578C>A (p.Arg860Ser) c.2623C>A (p.Arg875Ser) | gnomAD v4 |
17 | g.745433C>A | CA397503364 | GEMIN4 | c.2610G>T (p.Gln870His) c.2577G>T (p.Gln859His) c.2622G>T (p.Gln874His) | |
17 | g.745433C>G | CA397503365 | GEMIN4 | c.2610G>C (p.Gln870His) c.2577G>C (p.Gln859His) c.2622G>C (p.Gln874His) | |
17 | g.745433C>T | CA497383914 | GEMIN4 | c.2610G>A (p.Gln870=) c.2577G>A (p.Gln859=) c.2622G>A (p.Gln874=) | |
17 | g.745434T>A | CA397503366 | GEMIN4 | c.2609A>T (p.Gln870Leu) c.2576A>T (p.Gln859Leu) c.2621A>T (p.Gln874Leu) | |
17 | g.745434T>C | CA397503367 | GEMIN4 | c.2609A>G (p.Gln870Arg) c.2576A>G (p.Gln859Arg) c.2621A>G (p.Gln874Arg) | |
17 | g.745434T>G | CA397503368 | GEMIN4 | c.2609A>C (p.Gln870Pro) c.2576A>C (p.Gln859Pro) c.2621A>C (p.Gln874Pro) | |
17 | g.745435G>A | CA397503371 | GEMIN4 | c.2608C>T (p.Gln870Ter) c.2575C>T (p.Gln859Ter) c.2620C>T (p.Gln874Ter) | |
17 | g.745435G>C | CA397503370 | GEMIN4 | c.2608C>G (p.Gln870Glu) c.2575C>G (p.Gln859Glu) c.2620C>G (p.Gln874Glu) | |
17 | g.745435G>T | CA397503369 | GEMIN4 | c.2608C>A (p.Gln870Lys) c.2575C>A (p.Gln859Lys) c.2620C>A (p.Gln874Lys) | |
17 | g.745436C>A | CA397503372 | GEMIN4 | c.2607G>T (p.Trp869Cys) c.2574G>T (p.Trp858Cys) c.2619G>T (p.Trp873Cys) | gnomAD v4 |
17 | g.745436C= | CA2242474238 | GEMIN4 | c.2607G= (p.Trp869=) c.2574G= (p.Trp858=) c.2619G= (p.Trp873=) | |
17 | g.745436C>G | CA286713645 | GEMIN4 | c.2607G>C (p.Trp869Cys) c.2574G>C (p.Trp858Cys) c.2619G>C (p.Trp873Cys) | dbSNP gnomAD v4 |
17 | g.745436C>T | CA397503373 | GEMIN4 | c.2607G>A (p.Trp869Ter) c.2574G>A (p.Trp858Ter) c.2619G>A (p.Trp873Ter) | |
17 | g.745437C>A | CA397503374 | GEMIN4 | c.2606G>T (p.Trp869Leu) c.2573G>T (p.Trp858Leu) c.2618G>T (p.Trp873Leu) | |
17 | g.745437C= | CA2242474239 | GEMIN4 | c.2606G= (p.Trp869=) c.2573G= (p.Trp858=) c.2618G= (p.Trp873=) | |
17 | g.745437C>G | CA397503375 | GEMIN4 | c.2606G>C (p.Trp869Ser) c.2573G>C (p.Trp858Ser) c.2618G>C (p.Trp873Ser) | |
17 | g.745437C>T | CA397503376 | GEMIN4 | c.2606G>A (p.Trp869Ter) c.2573G>A (p.Trp858Ter) c.2618G>A (p.Trp873Ter) | dbSNP gnomAD v4 |
17 | g.745438A= | CA2242474240 | GEMIN4 | c.2605T= (p.Trp869=) c.2572T= (p.Trp858=) c.2617T= (p.Trp873=) | |
17 | g.745438A>C | CA397503377 | GEMIN4 | c.2605T>G (p.Trp869Gly) c.2572T>G (p.Trp858Gly) c.2617T>G (p.Trp873Gly) | gnomAD v4 |
17 | g.745438A>G | CA397503379 | GEMIN4 | c.2605T>C (p.Trp869Arg) c.2572T>C (p.Trp858Arg) c.2617T>C (p.Trp873Arg) | dbSNP gnomAD v4 |
17 | g.745438A>T | CA397503378 | GEMIN4 | c.2605T>A (p.Trp869Arg) c.2572T>A (p.Trp858Arg) c.2617T>A (p.Trp873Arg) | |
17 | g.745439C>A | CA397503380 | GEMIN4 | c.2604G>T (p.Glu868Asp) c.2571G>T (p.Glu857Asp) c.2616G>T (p.Glu872Asp) | dbSNP |
17 | g.745439C= | CA2242474241 | GEMIN4 | c.2604G= (p.Glu868=) c.2571G= (p.Glu857=) c.2616G= (p.Glu872=) | |
17 | g.745439C>G | CA397503381 | GEMIN4 | c.2604G>C (p.Glu868Asp) c.2571G>C (p.Glu857Asp) c.2616G>C (p.Glu872Asp) | |
17 | g.745439C>T | CA497383919 | GEMIN4 | c.2604G>A (p.Glu868=) c.2571G>A (p.Glu857=) c.2616G>A (p.Glu872=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745440T>A | CA397503382 | GEMIN4 | c.2603A>T (p.Glu868Val) c.2570A>T (p.Glu857Val) c.2615A>T (p.Glu872Val) | |
17 | g.745440T>C | CA397503383 | GEMIN4 | c.2603A>G (p.Glu868Gly) c.2570A>G (p.Glu857Gly) c.2615A>G (p.Glu872Gly) | |
17 | g.745440T>G | CA397503384 | GEMIN4 | c.2603A>C (p.Glu868Ala) c.2570A>C (p.Glu857Ala) c.2615A>C (p.Glu872Ala) | |
17 | g.745441C>A | CA397503385 | GEMIN4 | c.2602G>T (p.Glu868Ter) c.2569G>T (p.Glu857Ter) c.2614G>T (p.Glu872Ter) | |
17 | g.745441C>G | CA397503386 | GEMIN4 | c.2602G>C (p.Glu868Gln) c.2569G>C (p.Glu857Gln) c.2614G>C (p.Glu872Gln) | |
17 | g.745441C>T | CA397503387 | GEMIN4 | c.2602G>A (p.Glu868Lys) c.2569G>A (p.Glu857Lys) c.2614G>A (p.Glu872Lys) | gnomAD v4 |
17 | g.745442C>A | CA397503388 | GEMIN4 | c.2601G>T (p.Gln867His) c.2568G>T (p.Gln856His) c.2613G>T (p.Gln871His) | |
17 | g.745442C>G | CA397503389 | GEMIN4 | c.2601G>C (p.Gln867His) c.2568G>C (p.Gln856His) c.2613G>C (p.Gln871His) | |
17 | g.745442C>T | CA497383923 | GEMIN4 | c.2601G>A (p.Gln867=) c.2568G>A (p.Gln856=) c.2613G>A (p.Gln871=) | |
17 | g.745443T>A | CA397503392 | GEMIN4 | c.2600A>T (p.Gln867Leu) c.2567A>T (p.Gln856Leu) c.2612A>T (p.Gln871Leu) | |
17 | g.745443T>C | CA397503391 | GEMIN4 | c.2600A>G (p.Gln867Arg) c.2567A>G (p.Gln856Arg) c.2612A>G (p.Gln871Arg) | |
17 | g.745443T>G | CA397503390 | GEMIN4 | c.2600A>C (p.Gln867Pro) c.2567A>C (p.Gln856Pro) c.2612A>C (p.Gln871Pro) | |
17 | g.745444G>A | CA397503393 | GEMIN4 | c.2599C>T (p.Gln867Ter) c.2566C>T (p.Gln856Ter) c.2611C>T (p.Gln871Ter) | dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.745444G>C | CA397503395 | GEMIN4 | c.2599C>G (p.Gln867Glu) c.2566C>G (p.Gln856Glu) c.2611C>G (p.Gln871Glu) | dbSNP |
17 | g.745444G= | CA2242474242 | GEMIN4 | c.2599C= (p.Gln867=) c.2566C= (p.Gln856=) c.2611C= (p.Gln871=) | |
17 | g.745444G>T | CA397503394 | GEMIN4 | c.2599C>A (p.Gln867Lys) c.2566C>A (p.Gln856Lys) c.2611C>A (p.Gln871Lys) | |
17 | g.745445A>C | CA497383928 | GEMIN4 | c.2598T>G (p.Pro866=) c.2565T>G (p.Pro855=) c.2610T>G (p.Pro870=) | |
17 | g.745445A>G | CA497383929 | GEMIN4 | c.2598T>C (p.Pro866=) c.2565T>C (p.Pro855=) c.2610T>C (p.Pro870=) | gnomAD v3 gnomAD v4 |
17 | g.745445A>T | CA497383930 | GEMIN4 | c.2598T>A (p.Pro866=) c.2565T>A (p.Pro855=) c.2610T>A (p.Pro870=) | |
17 | g.745448_745459del | CA2576107239 | GEMIN4 | c.2587_2598del (p.Trp863_Pro866del) c.2554_2565del (p.Trp852_Pro855del) c.2599_2610del (p.Trp867_Pro870del) | |
17 | g.745446G>A | CA397503396 | GEMIN4 | c.2597C>T (p.Pro866Leu) c.2564C>T (p.Pro855Leu) c.2609C>T (p.Pro870Leu) | dbSNP |
17 | g.745446G>C | CA397503397 | GEMIN4 | c.2597C>G (p.Pro866Arg) c.2564C>G (p.Pro855Arg) c.2609C>G (p.Pro870Arg) | |
17 | g.745446G= | CA2242474243 | GEMIN4 | c.2597C= (p.Pro866=) c.2564C= (p.Pro855=) c.2609C= (p.Pro870=) | |
17 | g.745446G>T | CA397503398 | GEMIN4 | c.2597C>A (p.Pro866His) c.2564C>A (p.Pro855His) c.2609C>A (p.Pro870His) | gnomAD v4 |
17 | g.745447G>A | CA397503399 | GEMIN4 | c.2596C>T (p.Pro866Ser) c.2563C>T (p.Pro855Ser) c.2608C>T (p.Pro870Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745447G>C | CA397503400 | GEMIN4 | c.2596C>G (p.Pro866Ala) c.2563C>G (p.Pro855Ala) c.2608C>G (p.Pro870Ala) | |
17 | g.745447G= | CA2242474244 | GEMIN4 | c.2596C= (p.Pro866=) c.2563C= (p.Pro855=) c.2608C= (p.Pro870=) | |
17 | g.745447G>T | CA397503401 | GEMIN4 | c.2596C>A (p.Pro866Thr) c.2563C>A (p.Pro855Thr) c.2608C>A (p.Pro870Thr) | |
17 | g.745448G>A | CA8262390 | GEMIN4 | c.2595C>T (p.Ser865=) c.2562C>T (p.Ser854=) c.2607C>T (p.Ser869=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745448G>C | CA397503402 | GEMIN4 | c.2595C>G (p.Ser865Arg) c.2562C>G (p.Ser854Arg) c.2607C>G (p.Ser869Arg) | gnomAD v4 |
17 | g.745448G= | CA2242474245 | GEMIN4 | c.2595C= (p.Ser865=) c.2562C= (p.Ser854=) c.2607C= (p.Ser869=) | |
17 | g.745448G>T | CA397503403 | GEMIN4 | c.2595C>A (p.Ser865Arg) c.2562C>A (p.Ser854Arg) c.2607C>A (p.Ser869Arg) | dbSNP gnomAD v4 |
17 | g.745449C>A | CA397503404 | GEMIN4 | c.2594G>T (p.Ser865Ile) c.2561G>T (p.Ser854Ile) c.2606G>T (p.Ser869Ile) | |
17 | g.745449C= | CA2242474246 | GEMIN4 | c.2594G= (p.Ser865=) c.2561G= (p.Ser854=) c.2606G= (p.Ser869=) | |
17 | g.745449C>G | CA397503405 | GEMIN4 | c.2594G>C (p.Ser865Thr) c.2561G>C (p.Ser854Thr) c.2606G>C (p.Ser869Thr) | |
17 | g.745449C>T | CA8262391 | GEMIN4 | c.2594G>A (p.Ser865Asn) c.2561G>A (p.Ser854Asn) c.2606G>A (p.Ser869Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745450T>A | CA397503408 | GEMIN4 | c.2593A>T (p.Ser865Cys) c.2560A>T (p.Ser854Cys) c.2605A>T (p.Ser869Cys) | |
17 | g.745450T>C | CA397503406 | GEMIN4 | c.2593A>G (p.Ser865Gly) c.2560A>G (p.Ser854Gly) c.2605A>G (p.Ser869Gly) | |
17 | g.745450T>G | CA397503407 | GEMIN4 | c.2593A>C (p.Ser865Arg) c.2560A>C (p.Ser854Arg) c.2605A>C (p.Ser869Arg) | |
17 | g.745457_745473del | CA2635152492 | GEMIN4 | c.2577_2593del (p.Val860ProfsTer25) c.2544_2560del (p.Val849ProfsTer25) c.2589_2605del (p.Val864ProfsTer25) | gnomAD v4 |
17 | g.745451G>A | CA497383942 | GEMIN4 | c.2592C>T (p.Cys864=) c.2559C>T (p.Cys853=) c.2604C>T (p.Cys868=) | |
17 | g.745451G>C | CA397503409 | GEMIN4 | c.2592C>G (p.Cys864Trp) c.2559C>G (p.Cys853Trp) c.2604C>G (p.Cys868Trp) | |
17 | g.745451G>T | CA397503410 | GEMIN4 | c.2592C>A (p.Cys864Ter) c.2559C>A (p.Cys853Ter) c.2604C>A (p.Cys868Ter) | |
17 | g.745452C>A | CA397503411 | GEMIN4 | c.2591G>T (p.Cys864Phe) c.2558G>T (p.Cys853Phe) c.2603G>T (p.Cys868Phe) | COSMIC COSMIC |
17 | g.745452C= | CA2242474247 | GEMIN4 | c.2591G= (p.Cys864=) c.2558G= (p.Cys853=) c.2603G= (p.Cys868=) | |
17 | g.745452C>G | CA397503412 | GEMIN4 | c.2591G>C (p.Cys864Ser) c.2558G>C (p.Cys853Ser) c.2603G>C (p.Cys868Ser) | gnomAD v4 |
17 | g.745452C>T | CA397503413 | GEMIN4 | c.2591G>A (p.Cys864Tyr) c.2558G>A (p.Cys853Tyr) c.2603G>A (p.Cys868Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745453A= | CA2242474248 | GEMIN4 | c.2590T= (p.Cys864=) c.2557T= (p.Cys853=) c.2602T= (p.Cys868=) | |
17 | g.745453A>C | CA397503414 | GEMIN4 | c.2590T>G (p.Cys864Gly) c.2557T>G (p.Cys853Gly) c.2602T>G (p.Cys868Gly) | |
17 | g.745453A>G | CA286713646 | GEMIN4 | c.2590T>C (p.Cys864Arg) c.2557T>C (p.Cys853Arg) c.2602T>C (p.Cys868Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745453A>T | CA397503415 | GEMIN4 | c.2590T>A (p.Cys864Ser) c.2557T>A (p.Cys853Ser) c.2602T>A (p.Cys868Ser) | |
17 | g.745454C>A | CA397503416 | GEMIN4 | c.2589G>T (p.Trp863Cys) c.2556G>T (p.Trp852Cys) c.2601G>T (p.Trp867Cys) | dbSNP gnomAD v4 |
17 | g.745454C= | CA2242474249 | GEMIN4 | c.2589G= (p.Trp863=) c.2556G= (p.Trp852=) c.2601G= (p.Trp867=) | |
17 | g.745454C>G | CA397503417 | GEMIN4 | c.2589G>C (p.Trp863Cys) c.2556G>C (p.Trp852Cys) c.2601G>C (p.Trp867Cys) | |
17 | g.745454C>T | CA397503418 | GEMIN4 | c.2589G>A (p.Trp863Ter) c.2556G>A (p.Trp852Ter) c.2601G>A (p.Trp867Ter) | |
17 | g.745455C>A | CA397503420 | GEMIN4 | c.2588G>T (p.Trp863Leu) c.2555G>T (p.Trp852Leu) c.2600G>T (p.Trp867Leu) | gnomAD v4 |
17 | g.745455C= | CA2242474250 | GEMIN4 | c.2588G= (p.Trp863=) c.2555G= (p.Trp852=) c.2600G= (p.Trp867=) | |
17 | g.745455C>G | CA8262392 | GEMIN4 | c.2588G>C (p.Trp863Ser) c.2555G>C (p.Trp852Ser) c.2600G>C (p.Trp867Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745455C>T | CA397503419 | GEMIN4 | c.2588G>A (p.Trp863Ter) c.2555G>A (p.Trp852Ter) c.2600G>A (p.Trp867Ter) | |
17 | g.745456A>C | CA397503423 | GEMIN4 | c.2587T>G (p.Trp863Gly) c.2554T>G (p.Trp852Gly) c.2599T>G (p.Trp867Gly) | |
17 | g.745456A>G | CA397503421 | GEMIN4 | c.2587T>C (p.Trp863Arg) c.2554T>C (p.Trp852Arg) c.2599T>C (p.Trp867Arg) | |
17 | g.745456A>T | CA397503422 | GEMIN4 | c.2587T>A (p.Trp863Arg) c.2554T>A (p.Trp852Arg) c.2599T>A (p.Trp867Arg) | |
17 | g.745457A>C | CA497383947 | GEMIN4 | c.2586T>G (p.Pro862=) c.2553T>G (p.Pro851=) c.2598T>G (p.Pro866=) | |
17 | g.745457A>G | CA497383950 | GEMIN4 | c.2586T>C (p.Pro862=) c.2553T>C (p.Pro851=) c.2598T>C (p.Pro866=) | |
17 | g.745457A>T | CA497383948 | GEMIN4 | c.2586T>A (p.Pro862=) c.2553T>A (p.Pro851=) c.2598T>A (p.Pro866=) | |
17 | g.745458G>A | CA397503424 | GEMIN4 | c.2585C>T (p.Pro862Leu) c.2552C>T (p.Pro851Leu) c.2597C>T (p.Pro866Leu) | |
17 | g.745458G>C | CA397503425 | GEMIN4 | c.2585C>G (p.Pro862Arg) c.2552C>G (p.Pro851Arg) c.2597C>G (p.Pro866Arg) | |
17 | g.745458G>T | CA397503426 | GEMIN4 | c.2585C>A (p.Pro862His) c.2552C>A (p.Pro851His) c.2597C>A (p.Pro866His) | |
17 | g.745459G>A | CA397503429 | GEMIN4 | c.2584C>T (p.Pro862Ser) c.2551C>T (p.Pro851Ser) c.2596C>T (p.Pro866Ser) | |
17 | g.745459G>C | CA397503428 | GEMIN4 | c.2584C>G (p.Pro862Ala) c.2551C>G (p.Pro851Ala) c.2596C>G (p.Pro866Ala) | |
17 | g.745459G>T | CA397503427 | GEMIN4 | c.2584C>A (p.Pro862Thr) c.2551C>A (p.Pro851Thr) c.2596C>A (p.Pro866Thr) | |
17 | g.745460C>A | CA397503430 | GEMIN4 | c.2583G>T (p.Met861Ile) c.2550G>T (p.Met850Ile) c.2595G>T (p.Met865Ile) | |
17 | g.745460C= | CA2242474251 | GEMIN4 | c.2583G= (p.Met861=) c.2550G= (p.Met850=) c.2595G= (p.Met865=) | |
17 | g.745460C>G | CA397503431 | GEMIN4 | c.2583G>C (p.Met861Ile) c.2550G>C (p.Met850Ile) c.2595G>C (p.Met865Ile) | |
17 | g.745460C>T | CA397503432 | GEMIN4 | c.2583G>A (p.Met861Ile) c.2550G>A (p.Met850Ile) c.2595G>A (p.Met865Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745461A>C | CA397503433 | GEMIN4 | c.2582T>G (p.Met861Arg) c.2549T>G (p.Met850Arg) c.2594T>G (p.Met865Arg) | |
17 | g.745461A>G | CA397503434 | GEMIN4 | c.2582T>C (p.Met861Thr) c.2549T>C (p.Met850Thr) c.2594T>C (p.Met865Thr) | |
17 | g.745461A>T | CA397503435 | GEMIN4 | c.2582T>A (p.Met861Lys) c.2549T>A (p.Met850Lys) c.2594T>A (p.Met865Lys) | |
17 | g.745462T>A | CA397503436 | GEMIN4 | c.2581A>T (p.Met861Leu) c.2548A>T (p.Met850Leu) c.2593A>T (p.Met865Leu) | gnomAD v4 |
17 | g.745462T>C | CA397503438 | GEMIN4 | c.2581A>G (p.Met861Val) c.2548A>G (p.Met850Val) c.2593A>G (p.Met865Val) | gnomAD v4 |
17 | g.745462T>G | CA397503437 | GEMIN4 | c.2581A>C (p.Met861Leu) c.2548A>C (p.Met850Leu) c.2593A>C (p.Met865Leu) | |
17 | g.745463G>A | CA497383959 | GEMIN4 | c.2580C>T (p.Val860=) c.2547C>T (p.Val849=) c.2592C>T (p.Val864=) | |
17 | g.745463G>C | CA497383962 | GEMIN4 | c.2580C>G (p.Val860=) c.2547C>G (p.Val849=) c.2592C>G (p.Val864=) | |
17 | g.745463G>T | CA497383961 | GEMIN4 | c.2580C>A (p.Val860=) c.2547C>A (p.Val849=) c.2592C>A (p.Val864=) | |
17 | g.745464A= | CA2242474252 | GEMIN4 | c.2579T= (p.Val860=) c.2546T= (p.Val849=) c.2591T= (p.Val864=) | |
17 | g.745464A>C | CA397503439 | GEMIN4 | c.2579T>G (p.Val860Gly) c.2546T>G (p.Val849Gly) c.2591T>G (p.Val864Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745464A>G | CA397503440 | GEMIN4 | c.2579T>C (p.Val860Ala) c.2546T>C (p.Val849Ala) c.2591T>C (p.Val864Ala) | |
17 | g.745464A>T | CA397503441 | GEMIN4 | c.2579T>A (p.Val860Asp) c.2546T>A (p.Val849Asp) c.2591T>A (p.Val864Asp) | |
17 | g.745465C>A | CA397503442 | GEMIN4 | c.2578G>T (p.Val860Phe) c.2545G>T (p.Val849Phe) c.2590G>T (p.Val864Phe) | |
17 | g.745465C= | CA2242474253 | GEMIN4 | c.2578G= (p.Val860=) c.2545G= (p.Val849=) c.2590G= (p.Val864=) | |
17 | g.745465C>G | CA397503443 | GEMIN4 | c.2578G>C (p.Val860Leu) c.2545G>C (p.Val849Leu) c.2590G>C (p.Val864Leu) | |
17 | g.745465C>T | CA397503444 | GEMIN4 | c.2578G>A (p.Val860Ile) c.2545G>A (p.Val849Ile) c.2590G>A (p.Val864Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745466T>A | CA397503445 | GEMIN4 | c.2577A>T (p.Gln859His) c.2544A>T (p.Gln848His) c.2589A>T (p.Gln863His) | |
17 | g.745466T>C | CA497383967 | GEMIN4 | c.2577A>G (p.Gln859=) c.2544A>G (p.Gln848=) c.2589A>G (p.Gln863=) | gnomAD v3 gnomAD v4 |
17 | g.745466T>G | CA397503446 | GEMIN4 | c.2577A>C (p.Gln859His) c.2544A>C (p.Gln848His) c.2589A>C (p.Gln863His) | |
17 | g.745467T>A | CA397503447 | GEMIN4 | c.2576A>T (p.Gln859Leu) c.2543A>T (p.Gln848Leu) c.2588A>T (p.Gln863Leu) | |
17 | g.745467T>C | CA397503448 | GEMIN4 | c.2576A>G (p.Gln859Arg) c.2543A>G (p.Gln848Arg) c.2588A>G (p.Gln863Arg) | |
17 | g.745467T>G | CA397503449 | GEMIN4 | c.2576A>C (p.Gln859Pro) c.2543A>C (p.Gln848Pro) c.2588A>C (p.Gln863Pro) | |
17 | g.745468G>A | CA397503451 | GEMIN4 | c.2575C>T (p.Gln859Ter) c.2542C>T (p.Gln848Ter) c.2587C>T (p.Gln863Ter) | |
17 | g.745468G>C | CA397503452 | GEMIN4 | c.2575C>G (p.Gln859Glu) c.2542C>G (p.Gln848Glu) c.2587C>G (p.Gln863Glu) | |
17 | g.745468G>T | CA397503450 | GEMIN4 | c.2575C>A (p.Gln859Lys) c.2542C>A (p.Gln848Lys) c.2587C>A (p.Gln863Lys) | gnomAD v4 |
17 | g.745469C>A | CA497383975 | GEMIN4 | c.2574G>T (p.Val858=) c.2541G>T (p.Val847=) c.2586G>T (p.Val862=) | |
17 | g.745469C>G | CA497383976 | GEMIN4 | c.2574G>C (p.Val858=) c.2541G>C (p.Val847=) c.2586G>C (p.Val862=) | |
17 | g.745469C>T | CA497383977 | GEMIN4 | c.2574G>A (p.Val858=) c.2541G>A (p.Val847=) c.2586G>A (p.Val862=) | gnomAD v4 |
17 | g.745470A= | CA2242474254 | GEMIN4 | c.2573T= (p.Val858=) c.2540T= (p.Val847=) c.2585T= (p.Val862=) | |
17 | g.745470A>C | CA397503453 | GEMIN4 | c.2573T>G (p.Val858Gly) c.2540T>G (p.Val847Gly) c.2585T>G (p.Val862Gly) | |
17 | g.745470A>G | CA397503455 | GEMIN4 | c.2573T>C (p.Val858Ala) c.2540T>C (p.Val847Ala) c.2585T>C (p.Val862Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745470A>T | CA397503454 | GEMIN4 | c.2573T>A (p.Val858Glu) c.2540T>A (p.Val847Glu) c.2585T>A (p.Val862Glu) | |
17 | g.745471C>A | CA397503456 | GEMIN4 | c.2572G>T (p.Val858Leu) c.2539G>T (p.Val847Leu) c.2584G>T (p.Val862Leu) | |
17 | g.745471C= | CA2242474255 | GEMIN4 | c.2572G= (p.Val858=) c.2539G= (p.Val847=) c.2584G= (p.Val862=) | |
17 | g.745471C>G | CA397503457 | GEMIN4 | c.2572G>C (p.Val858Leu) c.2539G>C (p.Val847Leu) c.2584G>C (p.Val862Leu) | |
17 | g.745471C>T | CA397503458 | GEMIN4 | c.2572G>A (p.Val858Met) c.2539G>A (p.Val847Met) c.2584G>A (p.Val862Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745472C>A | CA497383984 | GEMIN4 | c.2571G>T (p.Leu857=) c.2538G>T (p.Leu846=) c.2583G>T (p.Leu861=) | |
17 | g.745472C>G | CA497383985 | GEMIN4 | c.2571G>C (p.Leu857=) c.2538G>C (p.Leu846=) c.2583G>C (p.Leu861=) | |
17 | g.745472C>T | CA497383986 | GEMIN4 | c.2571G>A (p.Leu857=) c.2538G>A (p.Leu846=) c.2583G>A (p.Leu861=) | |
17 | g.745473A= | CA2242474256 | GEMIN4 | c.2570T= (p.Leu857=) c.2537T= (p.Leu846=) c.2582T= (p.Leu861=) | |
17 | g.745473A>C | CA397503459 | GEMIN4 | c.2570T>G (p.Leu857Arg) c.2537T>G (p.Leu846Arg) c.2582T>G (p.Leu861Arg) | |
17 | g.745473A>G | CA397503460 | GEMIN4 | c.2570T>C (p.Leu857Pro) c.2537T>C (p.Leu846Pro) c.2582T>C (p.Leu861Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745473A>T | CA397503461 | GEMIN4 | c.2570T>A (p.Leu857Gln) c.2537T>A (p.Leu846Gln) c.2582T>A (p.Leu861Gln) | |
17 | g.745474G>A | CA497383988 | GEMIN4 | c.2569C>T (p.Leu857=) c.2536C>T (p.Leu846=) c.2581C>T (p.Leu861=) | |
17 | g.745474G>C | CA397503462 | GEMIN4 | c.2569C>G (p.Leu857Val) c.2536C>G (p.Leu846Val) c.2581C>G (p.Leu861Val) | ClinVar dbSNP gnomAD v4 |
17 | g.745474G= | CA2242474257 | GEMIN4 | c.2569C= (p.Leu857=) c.2536C= (p.Leu846=) c.2581C= (p.Leu861=) | |
17 | g.745474G>T | CA397503463 | GEMIN4 | c.2569C>A (p.Leu857Met) c.2536C>A (p.Leu846Met) c.2581C>A (p.Leu861Met) | |
17 | g.745475G>A | CA497383991 | GEMIN4 | c.2568C>T (p.Ala856=) c.2535C>T (p.Ala845=) c.2580C>T (p.Ala860=) | |
17 | g.745475G>C | CA497383992 | GEMIN4 | c.2568C>G (p.Ala856=) c.2535C>G (p.Ala845=) c.2580C>G (p.Ala860=) | |
17 | g.745475G>T | CA497383995 | GEMIN4 | c.2568C>A (p.Ala856=) c.2535C>A (p.Ala845=) c.2580C>A (p.Ala860=) | |
17 | g.745476G>A | CA397503464 | GEMIN4 | c.2567C>T (p.Ala856Val) c.2534C>T (p.Ala845Val) c.2579C>T (p.Ala860Val) | gnomAD v4 |
17 | g.745476G>C | CA397503465 | GEMIN4 | c.2567C>G (p.Ala856Gly) c.2534C>G (p.Ala845Gly) c.2579C>G (p.Ala860Gly) | |
17 | g.745476G>T | CA397503466 | GEMIN4 | c.2567C>A (p.Ala856Asp) c.2534C>A (p.Ala845Asp) c.2579C>A (p.Ala860Asp) | |
17 | g.745477C>A | CA397503469 | GEMIN4 | c.2566G>T (p.Ala856Ser) c.2533G>T (p.Ala845Ser) c.2578G>T (p.Ala860Ser) | |
17 | g.745477C>G | CA397503468 | GEMIN4 | c.2566G>C (p.Ala856Pro) c.2533G>C (p.Ala845Pro) c.2578G>C (p.Ala860Pro) | |
17 | g.745477C>T | CA397503467 | GEMIN4 | c.2566G>A (p.Ala856Thr) c.2533G>A (p.Ala845Thr) c.2578G>A (p.Ala860Thr) | |
17 | g.745478C>A | CA497383999 | GEMIN4 | c.2565G>T (p.Val855=) c.2532G>T (p.Val844=) c.2577G>T (p.Val859=) | gnomAD v4 |
17 | g.745478C= | CA2242474258 | GEMIN4 | c.2565G= (p.Val855=) c.2532G= (p.Val844=) c.2577G= (p.Val859=) | |
17 | g.745478C>G | CA497384000 | GEMIN4 | c.2565G>C (p.Val855=) c.2532G>C (p.Val844=) c.2577G>C (p.Val859=) | |
17 | g.745478C>T | CA8262393 | GEMIN4 | c.2565G>A (p.Val855=) c.2532G>A (p.Val844=) c.2577G>A (p.Val859=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745479A= | CA2242474260 | GEMIN4 | c.2564T= (p.Val855=) c.2531T= (p.Val844=) c.2576T= (p.Val859=) | |
17 | g.745479A>C | CA397503470 | GEMIN4 | c.2564T>G (p.Val855Gly) c.2531T>G (p.Val844Gly) c.2576T>G (p.Val859Gly) | |
17 | g.745479A>G | CA397503471 | GEMIN4 | c.2564T>C (p.Val855Ala) c.2531T>C (p.Val844Ala) c.2576T>C (p.Val859Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745479A>T | CA397503472 | GEMIN4 | c.2564T>A (p.Val855Glu) c.2531T>A (p.Val844Glu) c.2576T>A (p.Val859Glu) | |
17 | g.745479_745480delinsAC | CA2242474259 | GEMIN4 | c.2563_2564delinsGT (p.Val855=) c.2530_2531delinsGT (p.Val844=) c.2575_2576delinsGT (p.Val859=) | |
17 | g.745480C>A | CA397503473 | GEMIN4 | c.2563G>T (p.Val855Leu) c.2530G>T (p.Val844Leu) c.2575G>T (p.Val859Leu) | |
17 | g.745480C= | CA2242474261 | GEMIN4 | c.2563G= (p.Val855=) c.2530G= (p.Val844=) c.2575G= (p.Val859=) | |
17 | g.745480C>G | CA397503474 | GEMIN4 | c.2563G>C (p.Val855Leu) c.2530G>C (p.Val844Leu) c.2575G>C (p.Val859Leu) | dbSNP gnomAD v4 |
17 | g.745480C>T | CA397503475 | GEMIN4 | c.2563G>A (p.Val855Met) c.2530G>A (p.Val844Met) c.2575G>A (p.Val859Met) | gnomAD v4 |
17 | g.745481del | CA624456762 | GEMIN4 | c.2563del (p.Val855TrpfsTer21) c.2530del (p.Val844TrpfsTer21) c.2575del (p.Val859TrpfsTer21) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745481C>A | CA497384005 | GEMIN4 | c.2562G>T (p.Leu854=) c.2529G>T (p.Leu843=) c.2574G>T (p.Leu858=) | |
17 | g.745481C>G | CA497384007 | GEMIN4 | c.2562G>C (p.Leu854=) c.2529G>C (p.Leu843=) c.2574G>C (p.Leu858=) | gnomAD v4 |
17 | g.745481C>T | CA497384011 | GEMIN4 | c.2562G>A (p.Leu854=) c.2529G>A (p.Leu843=) c.2574G>A (p.Leu858=) | |
17 | g.745482A>C | CA397503476 | GEMIN4 | c.2561T>G (p.Leu854Arg) c.2528T>G (p.Leu843Arg) c.2573T>G (p.Leu858Arg) | |
17 | g.745482A>G | CA397503477 | GEMIN4 | c.2561T>C (p.Leu854Pro) c.2528T>C (p.Leu843Pro) c.2573T>C (p.Leu858Pro) | |
17 | g.745482A>T | CA397503478 | GEMIN4 | c.2561T>A (p.Leu854Gln) c.2528T>A (p.Leu843Gln) c.2573T>A (p.Leu858Gln) | |
17 | g.745483G>A | CA497384015 | GEMIN4 | c.2560C>T (p.Leu854=) c.2527C>T (p.Leu843=) c.2572C>T (p.Leu858=) | |
17 | g.745483G>C | CA397503479 | GEMIN4 | c.2560C>G (p.Leu854Val) c.2527C>G (p.Leu843Val) c.2572C>G (p.Leu858Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745483G= | CA2242474262 | GEMIN4 | c.2560C= (p.Leu854=) c.2527C= (p.Leu843=) c.2572C= (p.Leu858=) | |
17 | g.745483G>T | CA397503480 | GEMIN4 | c.2560C>A (p.Leu854Met) c.2527C>A (p.Leu843Met) c.2572C>A (p.Leu858Met) | |
17 | g.745483_745484insT | CA2242474263 | GEMIN4 | c.2559_2560insA (p.Leu854ThrfsTer?) c.2526_2527insA (p.Leu843ThrfsTer?) c.2571_2572insA (p.Leu858ThrfsTer?) | dbSNP |
17 | g.745484A= | CA2242474264 | GEMIN4 | c.2559T= (p.Phe853=) c.2526T= (p.Phe842=) c.2571T= (p.Phe857=) | |
17 | g.745484A>C | CA397503481 | GEMIN4 | c.2559T>G (p.Phe853Leu) c.2526T>G (p.Phe842Leu) c.2571T>G (p.Phe857Leu) | |
17 | g.745484A>G | CA497384016 | GEMIN4 | c.2559T>C (p.Phe853=) c.2526T>C (p.Phe842=) c.2571T>C (p.Phe857=) | gnomAD v3 gnomAD v4 |
17 | g.745484A>T | CA397503482 | GEMIN4 | c.2559T>A (p.Phe853Leu) c.2526T>A (p.Phe842Leu) c.2571T>A (p.Phe857Leu) | dbSNP |
17 | g.745485A= | CA2242474265 | GEMIN4 | c.2558T= (p.Phe853=) c.2525T= (p.Phe842=) c.2570T= (p.Phe857=) | |
17 | g.745485A>C | CA397503483 | GEMIN4 | c.2558T>G (p.Phe853Cys) c.2525T>G (p.Phe842Cys) c.2570T>G (p.Phe857Cys) | dbSNP |
17 | g.745485A>G | CA397503484 | GEMIN4 | c.2558T>C (p.Phe853Ser) c.2525T>C (p.Phe842Ser) c.2570T>C (p.Phe857Ser) | |
17 | g.745485A>T | CA397503485 | GEMIN4 | c.2558T>A (p.Phe853Tyr) c.2525T>A (p.Phe842Tyr) c.2570T>A (p.Phe857Tyr) | |
17 | g.745486A= | CA2242474266 | GEMIN4 | c.2557T= (p.Phe853=) c.2524T= (p.Phe842=) c.2569T= (p.Phe857=) | |
17 | g.745486A>C | CA397503486 | GEMIN4 | c.2557T>G (p.Phe853Val) c.2524T>G (p.Phe842Val) c.2569T>G (p.Phe857Val) | |
17 | g.745486A>G | CA397503487 | GEMIN4 | c.2557T>C (p.Phe853Leu) c.2524T>C (p.Phe842Leu) c.2569T>C (p.Phe857Leu) | dbSNP |
17 | g.745486A>T | CA397503488 | GEMIN4 | c.2557T>A (p.Phe853Ile) c.2524T>A (p.Phe842Ile) c.2569T>A (p.Phe857Ile) | |
17 | g.745487G>A | CA497384024 | GEMIN4 | c.2556C>T (p.Gly852=) c.2523C>T (p.Gly841=) c.2568C>T (p.Gly856=) | |
17 | g.745487G>C | CA497384027 | GEMIN4 | c.2556C>G (p.Gly852=) c.2523C>G (p.Gly841=) c.2568C>G (p.Gly856=) | |
17 | g.745487G>T | CA497384030 | GEMIN4 | c.2556C>A (p.Gly852=) c.2523C>A (p.Gly841=) c.2568C>A (p.Gly856=) | |
17 | g.745488C>A | CA397503491 | GEMIN4 | c.2555G>T (p.Gly852Val) c.2522G>T (p.Gly841Val) c.2567G>T (p.Gly856Val) | dbSNP |
17 | g.745488C= | CA2242474267 | GEMIN4 | c.2555G= (p.Gly852=) c.2522G= (p.Gly841=) c.2567G= (p.Gly856=) | |
17 | g.745488C>G | CA397503489 | GEMIN4 | c.2555G>C (p.Gly852Ala) c.2522G>C (p.Gly841Ala) c.2567G>C (p.Gly856Ala) | |
17 | g.745488C>T | CA397503490 | GEMIN4 | c.2555G>A (p.Gly852Asp) c.2522G>A (p.Gly841Asp) c.2567G>A (p.Gly856Asp) | gnomAD v4 |
17 | g.745489C>A | CA397503492 | GEMIN4 | c.2554G>T (p.Gly852Cys) c.2521G>T (p.Gly841Cys) c.2566G>T (p.Gly856Cys) | |
17 | g.745489C>G | CA397503493 | GEMIN4 | c.2554G>C (p.Gly852Arg) c.2521G>C (p.Gly841Arg) c.2566G>C (p.Gly856Arg) | |
17 | g.745489C>T | CA397503494 | GEMIN4 | c.2554G>A (p.Gly852Ser) c.2521G>A (p.Gly841Ser) c.2566G>A (p.Gly856Ser) | |
17 | g.745490T>A | CA397503495 | GEMIN4 | c.2553A>T (p.Lys851Asn) c.2520A>T (p.Lys840Asn) c.2565A>T (p.Lys855Asn) | |
17 | g.745490T>C | CA497384044 | GEMIN4 | c.2553A>G (p.Lys851=) c.2520A>G (p.Lys840=) c.2565A>G (p.Lys855=) | dbSNP gnomAD v4 |
17 | g.745490T>G | CA397503496 | GEMIN4 | c.2553A>C (p.Lys851Asn) c.2520A>C (p.Lys840Asn) c.2565A>C (p.Lys855Asn) | |
17 | g.745490T= | CA2242474268 | GEMIN4 | c.2553A= (p.Lys851=) c.2520A= (p.Lys840=) c.2565A= (p.Lys855=) | |
17 | g.745491T>A | CA397503497 | GEMIN4 | c.2552A>T (p.Lys851Ile) c.2519A>T (p.Lys840Ile) c.2564A>T (p.Lys855Ile) | |
17 | g.745491T>C | CA397503499 | GEMIN4 | c.2552A>G (p.Lys851Arg) c.2519A>G (p.Lys840Arg) c.2564A>G (p.Lys855Arg) | gnomAD v4 |
17 | g.745491T>G | CA397503498 | GEMIN4 | c.2552A>C (p.Lys851Thr) c.2519A>C (p.Lys840Thr) c.2564A>C (p.Lys855Thr) | |
17 | g.745492T>A | CA397503500 | GEMIN4 | c.2551A>T (p.Lys851Ter) c.2518A>T (p.Lys840Ter) c.2563A>T (p.Lys855Ter) | |
17 | g.745492T>C | CA397503501 | GEMIN4 | c.2551A>G (p.Lys851Glu) c.2518A>G (p.Lys840Glu) c.2563A>G (p.Lys855Glu) | |
17 | g.745492T>G | CA397503502 | GEMIN4 | c.2551A>C (p.Lys851Gln) c.2518A>C (p.Lys840Gln) c.2563A>C (p.Lys855Gln) | |
17 | g.745493G>A | CA497384050 | GEMIN4 | c.2550C>T (p.Ser850=) c.2517C>T (p.Ser839=) c.2562C>T (p.Ser854=) | |
17 | g.745493G>C | CA397503503 | GEMIN4 | c.2550C>G (p.Ser850Arg) c.2517C>G (p.Ser839Arg) c.2562C>G (p.Ser854Arg) | dbSNP |
17 | g.745493G= | CA2242474269 | GEMIN4 | c.2550C= (p.Ser850=) c.2517C= (p.Ser839=) c.2562C= (p.Ser854=) | |
17 | g.745493G>T | CA397503504 | GEMIN4 | c.2550C>A (p.Ser850Arg) c.2517C>A (p.Ser839Arg) c.2562C>A (p.Ser854Arg) | |
17 | g.745494C>A | CA397503505 | GEMIN4 | c.2549G>T (p.Ser850Ile) c.2516G>T (p.Ser839Ile) c.2561G>T (p.Ser854Ile) | |
17 | g.745494C= | CA2242474270 | GEMIN4 | c.2549G= (p.Ser850=) c.2516G= (p.Ser839=) c.2561G= (p.Ser854=) | |
17 | g.745494C>G | CA397503506 | GEMIN4 | c.2549G>C (p.Ser850Thr) c.2516G>C (p.Ser839Thr) c.2561G>C (p.Ser854Thr) | |
17 | g.745494C>T | CA397503507 | GEMIN4 | c.2549G>A (p.Ser850Asn) c.2516G>A (p.Ser839Asn) c.2561G>A (p.Ser854Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745495T>A | CA397503508 | GEMIN4 | c.2548A>T (p.Ser850Cys) c.2515A>T (p.Ser839Cys) c.2560A>T (p.Ser854Cys) | gnomAD v4 |
17 | g.745495T>C | CA397503509 | GEMIN4 | c.2548A>G (p.Ser850Gly) c.2515A>G (p.Ser839Gly) c.2560A>G (p.Ser854Gly) | |
17 | g.745495T>G | CA397503510 | GEMIN4 | c.2548A>C (p.Ser850Arg) c.2515A>C (p.Ser839Arg) c.2560A>C (p.Ser854Arg) | |
17 | g.745496G>A | CA497384060 | GEMIN4 | c.2547C>T (p.Phe849=) c.2514C>T (p.Phe838=) c.2559C>T (p.Phe853=) | |
17 | g.745496G>C | CA397503512 | GEMIN4 | c.2547C>G (p.Phe849Leu) c.2514C>G (p.Phe838Leu) c.2559C>G (p.Phe853Leu) | |
17 | g.745496G>T | CA397503511 | GEMIN4 | c.2547C>A (p.Phe849Leu) c.2514C>A (p.Phe838Leu) c.2559C>A (p.Phe853Leu) | |
17 | g.745496_745497delinsGA | CA2242474271 | GEMIN4 | c.2546_2547delinsTC (p.Phe849=) c.2513_2514delinsTC (p.Phe838=) c.2558_2559delinsTC (p.Phe853=) | |
17 | g.745497A>C | CA397503513 | GEMIN4 | c.2546T>G (p.Phe849Cys) c.2513T>G (p.Phe838Cys) c.2558T>G (p.Phe853Cys) | |
17 | g.745497A>G | CA397503515 | GEMIN4 | c.2546T>C (p.Phe849Ser) c.2513T>C (p.Phe838Ser) c.2558T>C (p.Phe853Ser) | |
17 | g.745497A>T | CA397503514 | GEMIN4 | c.2546T>A (p.Phe849Tyr) c.2513T>A (p.Phe838Tyr) c.2558T>A (p.Phe853Tyr) | |
17 | g.745498del | CA2242474273 | GEMIN4 | c.2546del (p.Phe849SerfsTer27) c.2513del (p.Phe838SerfsTer27) c.2558del (p.Phe853SerfsTer27) | |
17 | g.745497_745499delinsAAC | CA2242474272 | GEMIN4 | c.2544_2546delinsGTT (p.Leu848=) c.2511_2513delinsGTT (p.Leu837=) c.2556_2558delinsGTT (p.Leu852=) | |
17 | g.745498A>C | CA397503516 | GEMIN4 | c.2545T>G (p.Phe849Val) c.2512T>G (p.Phe838Val) c.2557T>G (p.Phe853Val) | |
17 | g.745498A>G | CA397503517 | GEMIN4 | c.2545T>C (p.Phe849Leu) c.2512T>C (p.Phe838Leu) c.2557T>C (p.Phe853Leu) | |
17 | g.745498A>T | CA397503518 | GEMIN4 | c.2545T>A (p.Phe849Ile) c.2512T>A (p.Phe838Ile) c.2557T>A (p.Phe853Ile) | |
17 | g.745499_745500del | CA624456763 | GEMIN4 | c.2544_2545del (p.Phe849GlnfsTer?) c.2511_2512del (p.Phe838GlnfsTer?) c.2556_2557del (p.Phe853GlnfsTer?) | dbSNP gnomAD v2 |
17 | g.745499C>A | CA497384067 | GEMIN4 | c.2544G>T (p.Leu848=) c.2511G>T (p.Leu837=) c.2556G>T (p.Leu852=) | |
17 | g.745499C>G | CA497384068 | GEMIN4 | c.2544G>C (p.Leu848=) c.2511G>C (p.Leu837=) c.2556G>C (p.Leu852=) | |
17 | g.745499C>T | CA497384070 | GEMIN4 | c.2544G>A (p.Leu848=) c.2511G>A (p.Leu837=) c.2556G>A (p.Leu852=) | |
17 | g.745500A= | CA2242474274 | GEMIN4 | c.2543T= (p.Leu848=) c.2510T= (p.Leu837=) c.2555T= (p.Leu852=) | |
17 | g.745500A>C | CA397503519 | GEMIN4 | c.2543T>G (p.Leu848Arg) c.2510T>G (p.Leu837Arg) c.2555T>G (p.Leu852Arg) | |
17 | g.745500A>G | CA397503520 | GEMIN4 | c.2543T>C (p.Leu848Pro) c.2510T>C (p.Leu837Pro) c.2555T>C (p.Leu852Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745500A>T | CA397503521 | GEMIN4 | c.2543T>A (p.Leu848Gln) c.2510T>A (p.Leu837Gln) c.2555T>A (p.Leu852Gln) | |
17 | g.745501G>A | CA497384072 | GEMIN4 | c.2542C>T (p.Leu848=) c.2509C>T (p.Leu837=) c.2554C>T (p.Leu852=) | |
17 | g.745501G>C | CA397503523 | GEMIN4 | c.2542C>G (p.Leu848Val) c.2509C>G (p.Leu837Val) c.2554C>G (p.Leu852Val) | |
17 | g.745501G>T | CA397503524 | GEMIN4 | c.2542C>A (p.Leu848Met) c.2509C>A (p.Leu837Met) c.2554C>A (p.Leu852Met) | gnomAD v4 |
17 | g.745502T>A | CA397503527 | GEMIN4 | c.2541A>T (p.Arg847Ser) c.2508A>T (p.Arg836Ser) c.2553A>T (p.Arg851Ser) | |
17 | g.745502T>C | CA497384078 | GEMIN4 | c.2541A>G (p.Arg847=) c.2508A>G (p.Arg836=) c.2553A>G (p.Arg851=) | |
17 | g.745502T>G | CA397503528 | GEMIN4 | c.2541A>C (p.Arg847Ser) c.2508A>C (p.Arg836Ser) c.2553A>C (p.Arg851Ser) | |
17 | g.745503C>A | CA397503531 | GEMIN4 | c.2540G>T (p.Arg847Ile) c.2507G>T (p.Arg836Ile) c.2552G>T (p.Arg851Ile) | gnomAD v4 |
17 | g.745503C>G | CA397503533 | GEMIN4 | c.2540G>C (p.Arg847Thr) c.2507G>C (p.Arg836Thr) c.2552G>C (p.Arg851Thr) | |
17 | g.745503C>T | CA397503534 | GEMIN4 | c.2540G>A (p.Arg847Lys) c.2507G>A (p.Arg836Lys) c.2552G>A (p.Arg851Lys) | |
17 | g.745504T>A | CA397503536 | GEMIN4 | c.2539A>T (p.Arg847Ter) c.2506A>T (p.Arg836Ter) c.2551A>T (p.Arg851Ter) | |
17 | g.745504T>C | CA397503538 | GEMIN4 | c.2539A>G (p.Arg847Gly) c.2506A>G (p.Arg836Gly) c.2551A>G (p.Arg851Gly) | |
17 | g.745504T>G | CA8262394 | GEMIN4 | c.2539A>C (p.Arg847=) c.2506A>C (p.Arg836=) c.2551A>C (p.Arg851=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745504T= | CA2242474275 | GEMIN4 | c.2539A= (p.Arg847=) c.2506A= (p.Arg836=) c.2551A= (p.Arg851=) | |
17 | g.745505G>A | CA497384082 | GEMIN4 | c.2538C>T (p.Val846=) c.2505C>T (p.Val835=) c.2550C>T (p.Val850=) | gnomAD v4 |
17 | g.745505G>C | CA497384084 | GEMIN4 | c.2538C>G (p.Val846=) c.2505C>G (p.Val835=) c.2550C>G (p.Val850=) | |
17 | g.745505G>T | CA497384085 | GEMIN4 | c.2538C>A (p.Val846=) c.2505C>A (p.Val835=) c.2550C>A (p.Val850=) | |
17 | g.745506A>C | CA397503542 | GEMIN4 | c.2537T>G (p.Val846Gly) c.2504T>G (p.Val835Gly) c.2549T>G (p.Val850Gly) | |
17 | g.745506A>G | CA397503544 | GEMIN4 | c.2537T>C (p.Val846Ala) c.2504T>C (p.Val835Ala) c.2549T>C (p.Val850Ala) | gnomAD v4 |
17 | g.745506A>T | CA397503543 | GEMIN4 | c.2537T>A (p.Val846Asp) c.2504T>A (p.Val835Asp) c.2549T>A (p.Val850Asp) | |
17 | g.745506_745507delinsAC | CA2242474277 | GEMIN4 | c.2536_2537delinsGT (p.Val846=) c.2503_2504delinsGT (p.Val835=) c.2548_2549delinsGT (p.Val850=) | |
17 | g.745506_745509delinsACCT | CA2242474276 | GEMIN4 | c.2534_2537delinsAGGT (p.Glu845=) c.2501_2504delinsAGGT (p.Glu834=) c.2546_2549delinsAGGT (p.Glu849=) | |
17 | g.745507C>A | CA397503547 | GEMIN4 | c.2536G>T (p.Val846Phe) c.2503G>T (p.Val835Phe) c.2548G>T (p.Val850Phe) | |
17 | g.745507C= | CA2242474279 | GEMIN4 | c.2536G= (p.Val846=) c.2503G= (p.Val835=) c.2548G= (p.Val850=) | |
17 | g.745507C>G | CA397503549 | GEMIN4 | c.2536G>C (p.Val846Leu) c.2503G>C (p.Val835Leu) c.2548G>C (p.Val850Leu) | |
17 | g.745507C>T | CA8262396 | GEMIN4 | c.2536G>A (p.Val846Ile) c.2503G>A (p.Val835Ile) c.2548G>A (p.Val850Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745508del | CA2242474278 | GEMIN4 | c.2536del (p.Val846SerfsTer30) c.2503del (p.Val835SerfsTer30) c.2548del (p.Val850SerfsTer30) | dbSNP |
17 | g.745511_745513del | CA8262395 | GEMIN4 | c.2534_2536del (p.Glu845del) c.2501_2503del (p.Glu834del) c.2546_2548del (p.Glu849del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745508C>A | CA397503553 | GEMIN4 | c.2535G>T (p.Glu845Asp) c.2502G>T (p.Glu834Asp) c.2547G>T (p.Glu849Asp) | |
17 | g.745508C= | CA2242474280 | GEMIN4 | c.2535G= (p.Glu845=) c.2502G= (p.Glu834=) c.2547G= (p.Glu849=) | |
17 | g.745508C>G | CA397503554 | GEMIN4 | c.2535G>C (p.Glu845Asp) c.2502G>C (p.Glu834Asp) c.2547G>C (p.Glu849Asp) | dbSNP |
17 | g.745508C>T | CA497384090 | GEMIN4 | c.2535G>A (p.Glu845=) c.2502G>A (p.Glu834=) c.2547G>A (p.Glu849=) | dbSNP gnomAD v4 |
17 | g.745509T>A | CA397503556 | GEMIN4 | c.2534A>T (p.Glu845Val) c.2501A>T (p.Glu834Val) c.2546A>T (p.Glu849Val) | dbSNP |
17 | g.745509T>C | CA397503558 | GEMIN4 | c.2534A>G (p.Glu845Gly) c.2501A>G (p.Glu834Gly) c.2546A>G (p.Glu849Gly) | gnomAD v4 |
17 | g.745509T>G | CA397503560 | GEMIN4 | c.2534A>C (p.Glu845Ala) c.2501A>C (p.Glu834Ala) c.2546A>C (p.Glu849Ala) | |
17 | g.745509T= | CA2242474281 | GEMIN4 | c.2534A= (p.Glu845=) c.2501A= (p.Glu834=) c.2546A= (p.Glu849=) | |
17 | g.745510C>A | CA397503561 | GEMIN4 | c.2533G>T (p.Glu845Ter) c.2500G>T (p.Glu834Ter) c.2545G>T (p.Glu849Ter) | dbSNP gnomAD v4 |
17 | g.745510C= | CA2242474282 | GEMIN4 | c.2533G= (p.Glu845=) c.2500G= (p.Glu834=) c.2545G= (p.Glu849=) | |
17 | g.745510C>G | CA397503563 | GEMIN4 | c.2533G>C (p.Glu845Gln) c.2500G>C (p.Glu834Gln) c.2545G>C (p.Glu849Gln) | |
17 | g.745510C>T | CA8262397 | GEMIN4 | c.2533G>A (p.Glu845Lys) c.2500G>A (p.Glu834Lys) c.2545G>A (p.Glu849Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745511C>A | CA397503565 | GEMIN4 | c.2532G>T (p.Glu844Asp) c.2499G>T (p.Glu833Asp) c.2544G>T (p.Glu848Asp) | |
17 | g.745511C= | CA2242474283 | GEMIN4 | c.2532G= (p.Glu844=) c.2499G= (p.Glu833=) c.2544G= (p.Glu848=) | |
17 | g.745511C>G | CA397503566 | GEMIN4 | c.2532G>C (p.Glu844Asp) c.2499G>C (p.Glu833Asp) c.2544G>C (p.Glu848Asp) | COSMIC COSMIC |
17 | g.745511C>T | CA8262398 | GEMIN4 | c.2532G>A (p.Glu844=) c.2499G>A (p.Glu833=) c.2544G>A (p.Glu848=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745512T>A | CA8262399 | GEMIN4 | c.2531A>T (p.Glu844Val) c.2498A>T (p.Glu833Val) c.2543A>T (p.Glu848Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745512T>C | CA397503567 | GEMIN4 | c.2531A>G (p.Glu844Gly) c.2498A>G (p.Glu833Gly) c.2543A>G (p.Glu848Gly) | |
17 | g.745512T>G | CA397503568 | GEMIN4 | c.2531A>C (p.Glu844Ala) c.2498A>C (p.Glu833Ala) c.2543A>C (p.Glu848Ala) | |
17 | g.745512T= | CA2242474284 | GEMIN4 | c.2531A= (p.Glu844=) c.2498A= (p.Glu833=) c.2543A= (p.Glu848=) | |
17 | g.745513C>A | CA397503569 | GEMIN4 | c.2530G>T (p.Glu844Ter) c.2497G>T (p.Glu833Ter) c.2542G>T (p.Glu848Ter) | |
17 | g.745513C>G | CA397503570 | GEMIN4 | c.2530G>C (p.Glu844Gln) c.2497G>C (p.Glu833Gln) c.2542G>C (p.Glu848Gln) | |
17 | g.745513C>T | CA397503571 | GEMIN4 | c.2530G>A (p.Glu844Lys) c.2497G>A (p.Glu833Lys) c.2542G>A (p.Glu848Lys) | |
17 | g.745514A>C | CA497384105 | GEMIN4 | c.2529T>G (p.Pro843=) c.2496T>G (p.Pro832=) c.2541T>G (p.Pro847=) | |
17 | g.745514A>G | CA497384103 | GEMIN4 | c.2529T>C (p.Pro843=) c.2496T>C (p.Pro832=) c.2541T>C (p.Pro847=) | |
17 | g.745514A>T | CA497384104 | GEMIN4 | c.2529T>A (p.Pro843=) c.2496T>A (p.Pro832=) c.2541T>A (p.Pro847=) | |
17 | g.745515G>A | CA397503577 | GEMIN4 | c.2528C>T (p.Pro843Leu) c.2495C>T (p.Pro832Leu) c.2540C>T (p.Pro847Leu) | |
17 | g.745515G>C | CA397503574 | GEMIN4 | c.2528C>G (p.Pro843Arg) c.2495C>G (p.Pro832Arg) c.2540C>G (p.Pro847Arg) | dbSNP |
17 | g.745515G= | CA2242474285 | GEMIN4 | c.2528C= (p.Pro843=) c.2495C= (p.Pro832=) c.2540C= (p.Pro847=) | |
17 | g.745515G>T | CA397503575 | GEMIN4 | c.2528C>A (p.Pro843His) c.2495C>A (p.Pro832His) c.2540C>A (p.Pro847His) | |
17 | g.745516G>A | CA397503580 | GEMIN4 | c.2527C>T (p.Pro843Ser) c.2494C>T (p.Pro832Ser) c.2539C>T (p.Pro847Ser) | |
17 | g.745516G>C | CA397503581 | GEMIN4 | c.2527C>G (p.Pro843Ala) c.2494C>G (p.Pro832Ala) c.2539C>G (p.Pro847Ala) | |
17 | g.745516G>T | CA397503583 | GEMIN4 | c.2527C>A (p.Pro843Thr) c.2494C>A (p.Pro832Thr) c.2539C>A (p.Pro847Thr) | gnomAD v4 |
17 | g.745517A= | CA2242474286 | GEMIN4 | c.2526T= (p.Asn842=) c.2493T= (p.Asn831=) c.2538T= (p.Asn846=) | |
17 | g.745517A>C | CA8262400 | GEMIN4 | c.2526T>G (p.Asn842Lys) c.2493T>G (p.Asn831Lys) c.2538T>G (p.Asn846Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745517A>G | CA497384113 | GEMIN4 | c.2526T>C (p.Asn842=) c.2493T>C (p.Asn831=) c.2538T>C (p.Asn846=) | |
17 | g.745517A>T | CA397503586 | GEMIN4 | c.2526T>A (p.Asn842Lys) c.2493T>A (p.Asn831Lys) c.2538T>A (p.Asn846Lys) | |
17 | g.745518T>A | CA397503589 | GEMIN4 | c.2525A>T (p.Asn842Ile) c.2492A>T (p.Asn831Ile) c.2537A>T (p.Asn846Ile) | |
17 | g.745518T>C | CA397503591 | GEMIN4 | c.2525A>G (p.Asn842Ser) c.2492A>G (p.Asn831Ser) c.2537A>G (p.Asn846Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745518T>G | CA397503590 | GEMIN4 | c.2525A>C (p.Asn842Thr) c.2492A>C (p.Asn831Thr) c.2537A>C (p.Asn846Thr) | |
17 | g.745518T= | CA2242474287 | GEMIN4 | c.2525A= (p.Asn842=) c.2492A= (p.Asn831=) c.2537A= (p.Asn846=) | |
17 | g.745519T>A | CA397503593 | GEMIN4 | c.2524A>T (p.Asn842Tyr) c.2491A>T (p.Asn831Tyr) c.2536A>T (p.Asn846Tyr) | |
17 | g.745519T>C | CA397503594 | GEMIN4 | c.2524A>G (p.Asn842Asp) c.2491A>G (p.Asn831Asp) c.2536A>G (p.Asn846Asp) | |
17 | g.745519T>G | CA397503596 | GEMIN4 | c.2524A>C (p.Asn842His) c.2491A>C (p.Asn831His) c.2536A>C (p.Asn846His) | |
17 | g.745520G>A | CA497384122 | GEMIN4 | c.2523C>T (p.Gly841=) c.2490C>T (p.Gly830=) c.2535C>T (p.Gly845=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745520G>C | CA497384123 | GEMIN4 | c.2523C>G (p.Gly841=) c.2490C>G (p.Gly830=) c.2535C>G (p.Gly845=) | |
17 | g.745520G= | CA2242474288 | GEMIN4 | c.2523C= (p.Gly841=) c.2490C= (p.Gly830=) c.2535C= (p.Gly845=) | |
17 | g.745520G>T | CA497384125 | GEMIN4 | c.2523C>A (p.Gly841=) c.2490C>A (p.Gly830=) c.2535C>A (p.Gly845=) | gnomAD v4 |
17 | g.745521C>A | CA397503598 | GEMIN4 | c.2522G>T (p.Gly841Val) c.2489G>T (p.Gly830Val) c.2534G>T (p.Gly845Val) | |
17 | g.745521C>G | CA397503600 | GEMIN4 | c.2522G>C (p.Gly841Ala) c.2489G>C (p.Gly830Ala) c.2534G>C (p.Gly845Ala) | |
17 | g.745521C>T | CA397503602 | GEMIN4 | c.2522G>A (p.Gly841Asp) c.2489G>A (p.Gly830Asp) c.2534G>A (p.Gly845Asp) | |
17 | g.745522C>A | CA397503604 | GEMIN4 | c.2521G>T (p.Gly841Cys) c.2488G>T (p.Gly830Cys) c.2533G>T (p.Gly845Cys) | |
17 | g.745522C>G | CA397503605 | GEMIN4 | c.2521G>C (p.Gly841Arg) c.2488G>C (p.Gly830Arg) c.2533G>C (p.Gly845Arg) | |
17 | g.745522C>T | CA397503607 | GEMIN4 | c.2521G>A (p.Gly841Ser) c.2488G>A (p.Gly830Ser) c.2533G>A (p.Gly845Ser) | |
17 | g.745523C>A | CA497384132 | GEMIN4 | c.2520G>T (p.Val840=) c.2487G>T (p.Val829=) c.2532G>T (p.Val844=) | |
17 | g.745523C= | CA2242474289 | GEMIN4 | c.2520G= (p.Val840=) c.2487G= (p.Val829=) c.2532G= (p.Val844=) | |
17 | g.745523C>G | CA497384134 | GEMIN4 | c.2520G>C (p.Val840=) c.2487G>C (p.Val829=) c.2532G>C (p.Val844=) | dbSNP |
17 | g.745523C>T | CA8262401 | GEMIN4 | c.2520G>A (p.Val840=) c.2487G>A (p.Val829=) c.2532G>A (p.Val844=) | dbSNP ExAC gnomAD v2 |
17 | g.745524A>C | CA397503611 | GEMIN4 | c.2519T>G (p.Val840Gly) c.2486T>G (p.Val829Gly) c.2531T>G (p.Val844Gly) | |
17 | g.745524A>G | CA397503615 | GEMIN4 | c.2519T>C (p.Val840Ala) c.2486T>C (p.Val829Ala) c.2531T>C (p.Val844Ala) | |
17 | g.745524A>T | CA397503613 | GEMIN4 | c.2519T>A (p.Val840Glu) c.2486T>A (p.Val829Glu) c.2531T>A (p.Val844Glu) | |
17 | g.745525C>A | CA397503617 | GEMIN4 | c.2518G>T (p.Val840Leu) c.2485G>T (p.Val829Leu) c.2530G>T (p.Val844Leu) | |
17 | g.745525C= | CA2242474290 | GEMIN4 | c.2518G= (p.Val840=) c.2485G= (p.Val829=) c.2530G= (p.Val844=) | |
17 | g.745525C>G | CA397503620 | GEMIN4 | c.2518G>C (p.Val840Leu) c.2485G>C (p.Val829Leu) c.2530G>C (p.Val844Leu) | |
17 | g.745525C>T | CA8262402 | GEMIN4 | c.2518G>A (p.Val840Met) c.2485G>A (p.Val829Met) c.2530G>A (p.Val844Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.745526G>A | CA8262403 | GEMIN4 | c.2517C>T (p.Asp839=) c.2484C>T (p.Asp828=) c.2529C>T (p.Asp843=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745526G>C | CA397503623 | GEMIN4 | c.2517C>G (p.Asp839Glu) c.2484C>G (p.Asp828Glu) c.2529C>G (p.Asp843Glu) | |
17 | g.745526G= | CA2242474291 | GEMIN4 | c.2517C= (p.Asp839=) c.2484C= (p.Asp828=) c.2529C= (p.Asp843=) | |
17 | g.745526G>T | CA397503624 | GEMIN4 | c.2517C>A (p.Asp839Glu) c.2484C>A (p.Asp828Glu) c.2529C>A (p.Asp843Glu) |