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 |
|---|---|---|---|---|---|
| 17 | g.10648492G>T | CA2576173391 | MYH3 | c.735+65C>A (n.735+65C>A) | gnomAD v4 |
| 17 | g.10648492_10648493insCA | CA2636123687 | MYH3 | c.735+64_735+65insTG (n.735+64_735+65insTG) | gnomAD v4 |
| 17 | g.10648493A>G | CA2636123688 | MYH3 | c.735+64T>C (n.735+64T>C) | gnomAD v4 |
| 17 | g.10648494C>G | CA2636123689 | MYH3 | c.735+63G>C (n.735+63G>C) | gnomAD v4 |
| 17 | g.10648494C>T | CA2636123690 | MYH3 | c.735+63G>A (n.735+63G>A) | gnomAD v4 |
| 17 | g.10648496G= | CA2247322366 | MYH3 | c.735+61C= (n.735+61C=) | |
| 17 | g.10648496G>T | CA2247322367 | MYH3 | c.735+61C>A (n.735+61C>A) | dbSNP gnomAD v4 |
| 17 | g.10648497G>T | CA2546345445 | MYH3 | c.735+60C>A (n.735+60C>A) | gnomAD v4 |
| 17 | g.10648497_10648507del | CA2636123692 | MYH3 | c.735+50_735+60del (n.735+50_735+60del) | gnomAD v4 |
| 17 | g.10648498G>T | CA2636123693 | MYH3 | c.735+59C>A (n.735+59C>A) | gnomAD v4 |
| 17 | g.10648499C>T | CA2576173392 | MYH3 | c.735+58G>A (n.735+58G>A) | gnomAD v4 |
| 17 | g.10648501C>T | CA2576173393 | MYH3 | c.735+56G>A (n.735+56G>A) | |
| 17 | g.10648503T>A | CA287752318 | MYH3 | c.735+54A>T (n.735+54A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10648503T>G | CA2636123694 | MYH3 | c.735+54A>C (n.735+54A>C) | gnomAD v4 |
| 17 | g.10648503T= | CA2247322369 | MYH3 | c.735+54A= (n.735+54A=) | |
| 17 | g.10648504G>T | CA2576173394 | MYH3 | c.735+53C>A (n.735+53C>A) | gnomAD v4 |
| 17 | g.10648512del | CA2636123695 | MYH3 | c.735+48del (n.735+48del) | gnomAD v4 |
| 17 | g.10648510_10648512del | CA2636123696 | MYH3 | c.735+46_735+48del (n.735+46_735+48del) | gnomAD v4 |
| 17 | g.10648510T>A | CA2636123697 | MYH3 | c.735+47A>T (n.735+47A>T) | gnomAD v4 |
| 17 | g.10648512T>A | CA2636123698 | MYH3 | c.735+45A>T (n.735+45A>T) | gnomAD v4 |
| 17 | g.10648512T>C | CA8393177 | MYH3 | c.735+45A>G (n.735+45A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10648512T= | CA2247322371 | MYH3 | c.735+45A= (n.735+45A=) | |
| 17 | g.10648513G>T | CA2576173395 | MYH3 | c.735+44C>A (n.735+44C>A) | gnomAD v4 |
| 17 | g.10648513_10648514insA | CA2636123699 | MYH3 | c.735+43_735+44insT (n.735+43_735+44insT) | gnomAD v4 |
| 17 | g.10648515G>A | CA981429318 | MYH3 | c.735+42C>T (n.735+42C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10648515G= | CA2247322373 | MYH3 | c.735+42C= (n.735+42C=) | |
| 17 | g.10648516A>G | CA2576173396 | MYH3 | c.735+41T>C (n.735+41T>C) | |
| 17 | g.10648517G>A | CA8393178 | MYH3 | c.735+40C>T (n.735+40C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10648517G>C | CA2581294824 | MYH3 | c.735+40C>G (n.735+40C>G) | |
| 17 | g.10648517G= | CA2247322375 | MYH3 | c.735+40C= (n.735+40C=) | |
| 17 | g.10648517G>T | CA2581294823 | MYH3 | c.735+40C>A (n.735+40C>A) | |
| 17 | g.10648518G>A | CA624875326 | MYH3 | c.735+39C>T (n.735+39C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10648518G= | CA2247322376 | MYH3 | c.735+39C= (n.735+39C=) | |
| 17 | g.10648518G>T | CA2636123700 | MYH3 | c.735+39C>A (n.735+39C>A) | gnomAD v4 |
| 17 | g.10648519C>A | CA2636123701 | MYH3 | c.735+38G>T (n.735+38G>T) | gnomAD v4 |
| 17 | g.10648519C>T | CA2636123702 | MYH3 | c.735+38G>A (n.735+38G>A) | gnomAD v4 |
| 17 | g.10648521C>T | CA2576173397 | MYH3 | c.735+36G>A (n.735+36G>A) | |
| 17 | g.10648522A= | CA2247322378 | MYH3 | c.735+35T= (n.735+35T=) | |
| 17 | g.10648522A>G | CA2247322380 | MYH3 | c.735+35T>C (n.735+35T>C) | dbSNP |
| 17 | g.10648524A>T | CA2636123703 | MYH3 | c.735+33T>A (n.735+33T>A) | gnomAD v4 |
| 17 | g.10648525_10648530delinsGCAAAT | CA2247322381 | MYH3 | c.735+27_735+32delinsATTTGC (n.735+27_735+32delinsATTTGC) | |
| 17 | g.10648526_10648530del | CA725973664 | MYH3 | c.735+27_735+31del (n.735+27_735+31del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10648531T>A | CA2636123704 | MYH3 | c.735+26A>T (n.735+26A>T) | gnomAD v4 |
| 17 | g.10648532C= | CA2247322383 | MYH3 | c.735+25G= (n.735+25G=) | |
| 17 | g.10648532C>T | CA8393179 | MYH3 | c.735+25G>A (n.735+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10648533del | CA2636123705 | MYH3 | c.735+25del (n.735+25del) | gnomAD v4 |
| 17 | g.10648534A= | CA2247322387 | MYH3 | c.735+23T= (n.735+23T=) | |
| 17 | g.10648534A>G | CA8393180 | MYH3 | c.735+23T>C (n.735+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10648540A= | CA2247322389 | MYH3 | c.735+17T= (n.735+17T=) | |
| 17 | g.10648540A>C | CA624875327 | MYH3 | c.735+17T>G (n.735+17T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10648541C= | CA2247322390 | MYH3 | c.735+16G= (n.735+16G=) | |
| 17 | g.10648541C>T | CA8393181 | MYH3 | c.735+16G>A (n.735+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10648542C>A | CA2697559416 | MYH3 | c.735+15G>T (n.735+15G>T) | ClinVar |
| 17 | g.10648542C= | CA2247322395 | MYH3 | c.735+15G= (n.735+15G=) | |
| 17 | g.10648542C>G | CA2247322394 | MYH3 | c.735+15G>C (n.735+15G>C) | dbSNP gnomAD v4 |
| 17 | g.10648542C>T | CA2247322392 | MYH3 | c.735+15G>A (n.735+15G>A) | dbSNP |
| 17 | g.10648543A>G | CA2576173398 | MYH3 | c.735+14T>C (n.735+14T>C) | |
| 17 | g.10648545A>G | CA2576173399 | MYH3 | c.735+12T>C (n.735+12T>C) | |
| 17 | g.10648545_10648547delinsACT | CA2247322397 | MYH3 | c.735+10_735+12delinsAGT (n.735+10_735+12delinsAGT) | |
| 17 | g.10648546C>T | CA2636123708 | MYH3 | c.735+11G>A (n.735+11G>A) | gnomAD v4 |
| 17 | g.10648547_10648548del | CA287752366 | MYH3 | c.735+10_735+11del (n.735+10_735+11del) | dbSNP gnomAD v4 |
| 17 | g.10648547T>C | CA8393182 | MYH3 | c.735+10A>G (n.735+10A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10648547T>G | CA2732930630 | MYH3 | c.735+10A>C (n.735+10A>C) | dbSNP |
| 17 | g.10648547T= | CA2247322400 | MYH3 | c.735+10A= (n.735+10A=) | |
| 17 | g.10648548C>G | CA2636123710 | MYH3 | c.735+9G>C (n.735+9G>C) | gnomAD v4 |
| 17 | g.10648549_10648551del | CA2636123711 | MYH3 | c.735+6_735+8del (n.735+6_735+8del) | gnomAD v4 |
| 17 | g.10648550G>A | CA2553632071 | MYH3 | c.735+7C>T (n.735+7C>T) | |
| 17 | g.10648552C= | CA2247322402 | MYH3 | c.735+5G= (n.735+5G=) | |
| 17 | g.10648552C>T | CA2247322403 | MYH3 | c.735+5G>A (n.735+5G>A) | dbSNP |
| 17 | g.10648554C>T | CA2576173400 | MYH3 | c.735+3G>A (n.735+3G>A) | |
| 17 | g.10648556_10648557del | CA2636123712 | MYH3 | c.735+2_735+3del | gnomAD v4 |
| 17 | g.10648555A>C | CA398109460 | MYH3 | c.735+2T>G (n.735+2T>G) | |
| 17 | g.10648555A>G | CA398109465 | MYH3 | c.735+2T>C (n.735+2T>C) | |
| 17 | g.10648555A>T | CA398109467 | MYH3 | c.735+2T>A (n.735+2T>A) | |
| 17 | g.10648556C>A | CA398109469 | MYH3 | c.735+1G>T (n.735+1G>T) | |
| 17 | g.10648556C>G | CA398109471 | MYH3 | c.735+1G>C (n.735+1G>C) | |
| 17 | g.10648556C>T | CA398109472 | MYH3 | c.735+1G>A (n.735+1G>A) | |
| 17 | g.10648557A>C | CA398109475 | MYH3 | c.735T>G (p.Phe245Leu) | |
| 17 | g.10648557A>G | CA497843963 | MYH3 | c.735T>C (p.Phe245=) | |
| 17 | g.10648557A>T | CA398109478 | MYH3 | c.735T>A (p.Phe245Leu) | |
| 17 | g.10648558A>C | CA398109484 | MYH3 | c.734T>G (p.Phe245Cys) | |
| 17 | g.10648558A>G | CA398109490 | MYH3 | c.734T>C (p.Phe245Ser) | |
| 17 | g.10648558A>T | CA398109482 | MYH3 | c.734T>A (p.Phe245Tyr) | |
| 17 | g.10648559A>C | CA398109493 | MYH3 | c.733T>G (p.Phe245Val) | |
| 17 | g.10648559A>G | CA398109491 | MYH3 | c.733T>C (p.Phe245Leu) | |
| 17 | g.10648559A>T | CA398109494 | MYH3 | c.733T>A (p.Phe245Ile) | |
| 17 | g.10648560A>C | CA497843964 | MYH3 | c.732T>G (p.Arg244=) | |
| 17 | g.10648560A>G | CA497843965 | MYH3 | c.732T>C (p.Arg244=) | |
| 17 | g.10648560A>T | CA497843966 | MYH3 | c.732T>A (p.Arg244=) | |
| 17 | g.10648561C>A | CA398109497 | MYH3 | c.731G>T (p.Arg244Leu) | |
| 17 | g.10648561C= | CA2247322407 | MYH3 | c.731G= (p.Arg244=) | |
| 17 | g.10648561C>G | CA398109499 | MYH3 | c.731G>C (p.Arg244Pro) | |
| 17 | g.10648561C>T | CA398109498 | MYH3 | c.731G>A (p.Arg244His) | dbSNP gnomAD v4 |
| 17 | g.10648561_10648562delinsCG | CA2247322408 | MYH3 | c.730_731delinsCG (p.Arg244=) | |
| 17 | g.10648562G>A | CA398109501 | MYH3 | c.730C>T (p.Arg244Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10648562G>C | CA8393183 | MYH3 | c.730C>G (p.Arg244Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10648562G= | CA2247322417 | MYH3 | c.730C= (p.Arg244=) | |
| 17 | g.10648562G>T | CA398109504 | MYH3 | c.730C>A (p.Arg244Ser) | |
| 17 | g.10648564del | CA981429321 | MYH3 | c.730del (p.Arg244ValfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10648562_10648565delinsGGGA | CA2247322415 | MYH3 | c.727_730delinsTCCC (p.Ser243=) | |
| 17 | g.10648563G>A | CA497843967 | MYH3 | c.729C>T (p.Ser243=) | |
| 17 | g.10648563G>C | CA497843968 | MYH3 | c.729C>G (p.Ser243=) | dbSNP |
| 17 | g.10648563G= | CA2247322425 | MYH3 | c.729C= (p.Ser243=) | |
| 17 | g.10648563G>T | CA497843969 | MYH3 | c.729C>A (p.Ser243=) | |
| 17 | g.10648567_10648569del | CA358703 | MYH3 | c.727_729del (p.Ser243del) | ClinVar dbSNP |
| 17 | g.10648564G>A | CA398109507 | MYH3 | c.728C>T (p.Ser243Phe) | |
| 17 | g.10648564G>C | CA398109509 | MYH3 | c.728C>G (p.Ser243Cys) | |
| 17 | g.10648564G>T | CA398109510 | MYH3 | c.728C>A (p.Ser243Tyr) | |
| 17 | g.10648565A>C | CA398109511 | MYH3 | c.727T>G (p.Ser243Ala) | |
| 17 | g.10648565A>G | CA398109513 | MYH3 | c.727T>C (p.Ser243Pro) | |
| 17 | g.10648565A>T | CA398109516 | MYH3 | c.727T>A (p.Ser243Thr) | |
| 17 | g.10648566G>A | CA497843971 | MYH3 | c.726C>T (p.Ser242=) | |
| 17 | g.10648566G>C | CA497843972 | MYH3 | c.726C>G (p.Ser242=) | |
| 17 | g.10648566G>T | CA497843970 | MYH3 | c.726C>A (p.Ser242=) | |
| 17 | g.10648567G>A | CA398109517 | MYH3 | c.725C>T (p.Ser242Phe) | dbSNP |
| 17 | g.[10648567G>A;10648571T>C] | CA891862590 | MYH3 | c.[721A>G;725C>T] (p.[Asn241Asp;Ser242Phe]) | |
| 17 | g.10648567G>C | CA398109518 | MYH3 | c.725C>G (p.Ser242Cys) | |
| 17 | g.10648567G= | CA2247322430 | MYH3 | c.725C= (p.Ser242=) | |
| 17 | g.10648567G>T | CA398109519 | MYH3 | c.725C>A (p.Ser242Tyr) | |
| 17 | g.10648567_10648571delinsTTGTC | CA2695224340 | MYH3 | c.721_725delinsGACAA (p.Asn241_Ser242delinsAspAsn) | |
| 17 | g.10648568A>C | CA398109520 | MYH3 | c.724T>G (p.Ser242Ala) | |
| 17 | g.10648568A>G | CA398109525 | MYH3 | c.724T>C (p.Ser242Pro) | ClinVar |
| 17 | g.10648568A>T | CA398109522 | MYH3 | c.724T>A (p.Ser242Thr) | |
| 17 | g.10648569G>A | CA497843973 | MYH3 | c.723C>T (p.Asn241=) | gnomAD v4 |
| 17 | g.10648569G>C | CA398109529 | MYH3 | c.723C>G (p.Asn241Lys) | |
| 17 | g.10648569G>T | CA398109531 | MYH3 | c.723C>A (p.Asn241Lys) | |
| 17 | g.10648570T>A | CA398109532 | MYH3 | c.722A>T (p.Asn241Ile) | |
| 17 | g.10648570T>C | CA8393184 | MYH3 | c.722A>G (p.Asn241Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10648570T>G | CA398109536 | MYH3 | c.722A>C (p.Asn241Thr) | gnomAD v4 |
| 17 | g.10648570T= | CA2247322433 | MYH3 | c.722A= (p.Asn241=) | |
| 17 | g.10648571T>A | CA398109539 | MYH3 | c.721A>T (p.Asn241Tyr) | |
| 17 | g.10648571T>C | CA398109541 | MYH3 | c.721A>G (p.Asn241Asp) | dbSNP |
| 17 | g.10648571T>G | CA398109543 | MYH3 | c.721A>C (p.Asn241His) | |
| 17 | g.10648571T= | CA2247322437 | MYH3 | c.721A= (p.Asn241=) | |
| 17 | g.10648571_10648572insTTGT | CA2636123713 | MYH3 | c.721_722insCAAA (p.Asn241ThrfsTer26) | gnomAD v4 |
| 17 | g.10648572G>A | CA497843974 | MYH3 | c.720C>T (p.Asp240=) | |
| 17 | g.10648572G>C | CA398109546 | MYH3 | c.720C>G (p.Asp240Glu) | |
| 17 | g.10648572G>T | CA398109549 | MYH3 | c.720C>A (p.Asp240Glu) | |
| 17 | g.10648573T>A | CA398109559 | MYH3 | c.719A>T (p.Asp240Val) | |
| 17 | g.10648573T>C | CA398109557 | MYH3 | c.719A>G (p.Asp240Gly) | |
| 17 | g.10648573T>G | CA398109556 | MYH3 | c.719A>C (p.Asp240Ala) | |
| 17 | g.10648574C>A | CA287752404 | MYH3 | c.718G>T (p.Asp240Tyr) | dbSNP |
| 17 | g.10648574C= | CA2247322442 | MYH3 | c.718G= (p.Asp240=) | |
| 17 | g.10648574C>G | CA398109562 | MYH3 | c.718G>C (p.Asp240His) | |
| 17 | g.10648574C>T | CA398109564 | MYH3 | c.718G>A (p.Asp240Asn) | |
| 17 | g.10648575A>C | CA398109567 | MYH3 | c.717T>G (p.Asn239Lys) | |
| 17 | g.10648575A>G | CA497843975 | MYH3 | c.717T>C (p.Asn239=) | gnomAD v4 |
| 17 | g.10648575A>T | CA398109572 | MYH3 | c.717T>A (p.Asn239Lys) | |
| 17 | g.10648576T>A | CA398109573 | MYH3 | c.716A>T (p.Asn239Ile) | |
| 17 | g.10648576T>C | CA398109576 | MYH3 | c.716A>G (p.Asn239Ser) | |
| 17 | g.10648576T>G | CA398109580 | MYH3 | c.716A>C (p.Asn239Thr) | |
| 17 | g.10648577T>A | CA398109582 | MYH3 | c.715A>T (p.Asn239Tyr) | |
| 17 | g.10648577T>C | CA398109584 | MYH3 | c.715A>G (p.Asn239Asp) | |
| 17 | g.10648577T>G | CA398109586 | MYH3 | c.715A>C (p.Asn239His) | |
| 17 | g.10648578C>A | CA398109588 | MYH3 | c.714G>T (p.Arg238Ser) | |
| 17 | g.10648578C>G | CA398109590 | MYH3 | c.714G>C (p.Arg238Ser) | |
| 17 | g.10648578C>T | CA497843976 | MYH3 | c.714G>A (p.Arg238=) | gnomAD v4 |
| 17 | g.10648579C>A | CA398109603 | MYH3 | c.713G>T (p.Arg238Met) | |
| 17 | g.10648579C>G | CA398109595 | MYH3 | c.713G>C (p.Arg238Thr) | |
| 17 | g.10648579C>T | CA398109598 | MYH3 | c.713G>A (p.Arg238Lys) | |
| 17 | g.10648580T>A | CA398109605 | MYH3 | c.712A>T (p.Arg238Trp) | |
| 17 | g.10648580T>C | CA287752410 | MYH3 | c.712A>G (p.Arg238Gly) | dbSNP |
| 17 | g.10648580T>G | CA497843977 | MYH3 | c.712A>C (p.Arg238=) | |
| 17 | g.10648580T= | CA2247322446 | MYH3 | c.712A= (p.Arg238=) | |
| 17 | g.10648581C>A | CA497843978 | MYH3 | c.711G>T (p.Val237=) | gnomAD v4 |
| 17 | g.10648581C>G | CA497843979 | MYH3 | c.711G>C (p.Val237=) | |
| 17 | g.10648581C>T | CA497843980 | MYH3 | c.711G>A (p.Val237=) | |
| 17 | g.10648583_10648584del | CA2636123714 | MYH3 | c.710_711del (p.Val237GlufsTer3) | gnomAD v4 |
| 17 | g.10648582A>C | CA398109610 | MYH3 | c.710T>G (p.Val237Gly) | gnomAD v4 |
| 17 | g.10648582A>G | CA398109611 | MYH3 | c.710T>C (p.Val237Ala) | |
| 17 | g.10648582A>T | CA398109613 | MYH3 | c.710T>A (p.Val237Glu) | |
| 17 | g.10648583C>A | CA398109616 | MYH3 | c.709G>T (p.Val237Leu) | |
| 17 | g.10648583C= | CA2247322449 | MYH3 | c.709G= (p.Val237=) | |
| 17 | g.10648583C>G | CA398109618 | MYH3 | c.709G>C (p.Val237Leu) | |
| 17 | g.10648583C>T | CA398109621 | MYH3 | c.709G>A (p.Val237Met) | ClinVar dbSNP |
| 17 | g.10648584A= | CA2247322452 | MYH3 | c.708T= (p.Thr236=) | |
| 17 | g.10648584A>C | CA497843981 | MYH3 | c.708T>G (p.Thr236=) | |
| 17 | g.10648584A>G | CA287752416 | MYH3 | c.708T>C (p.Thr236=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10648584A>T | CA497843982 | MYH3 | c.708T>A (p.Thr236=) | |
| 17 | g.10648585G>A | CA398109623 | MYH3 | c.707C>T (p.Thr236Ile) | |
| 17 | g.10648585G>C | CA398109628 | MYH3 | c.707C>G (p.Thr236Ser) | |
| 17 | g.10648585G>T | CA398109630 | MYH3 | c.707C>A (p.Thr236Asn) | |
| 17 | g.10648586T>A | CA398109639 | MYH3 | c.706A>T (p.Thr236Ser) | |
| 17 | g.10648586T>C | CA398109635 | MYH3 | c.706A>G (p.Thr236Ala) | |
| 17 | g.10648586T>G | CA398109633 | MYH3 | c.706A>C (p.Thr236Pro) | ClinVar dbSNP |
| 17 | g.10648586T= | CA2247322454 | MYH3 | c.706A= (p.Thr236=) | |
| 17 | g.10648587C>A | CA398109643 | MYH3 | c.705G>T (p.Lys235Asn) | COSMIC |
| 17 | g.10648587C>G | CA398109644 | MYH3 | c.705G>C (p.Lys235Asn) | |
| 17 | g.10648587C>T | CA497843983 | MYH3 | c.705G>A (p.Lys235=) | |
| 17 | g.10648588T>A | CA398109646 | MYH3 | c.704A>T (p.Lys235Met) | |
| 17 | g.10648588T>C | CA398109647 | MYH3 | c.704A>G (p.Lys235Arg) | |
| 17 | g.10648588T>G | CA398109650 | MYH3 | c.704A>C (p.Lys235Thr) | |
| 17 | g.10648589T>A | CA398109652 | MYH3 | c.703A>T (p.Lys235Ter) | |
| 17 | g.10648589T>C | CA398109655 | MYH3 | c.703A>G (p.Lys235Glu) | ClinVar |
| 17 | g.10648589T>G | CA398109660 | MYH3 | c.703A>C (p.Lys235Gln) | |
| 17 | g.10648590G>A | CA497843984 | MYH3 | c.702C>T (p.Ala234=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10648590G>C | CA497843985 | MYH3 | c.702C>G (p.Ala234=) | |
| 17 | g.10648590G= | CA2247322459 | MYH3 | c.702C= (p.Ala234=) | |
| 17 | g.10648590G>T | CA497843986 | MYH3 | c.702C>A (p.Ala234=) | |
| 17 | g.10648591G>A | CA398109662 | MYH3 | c.701C>T (p.Ala234Val) | |
| 17 | g.10648591G>C | CA398109667 | MYH3 | c.701C>G (p.Ala234Gly) | |
| 17 | g.10648591G>T | CA398109672 | MYH3 | c.701C>A (p.Ala234Asp) | |
| 17 | g.10648592C>A | CA398109675 | MYH3 | c.700G>T (p.Ala234Ser) | gnomAD v4 |
| 17 | g.10648592C= | CA2247322464 | MYH3 | c.700G= (p.Ala234=) | |
| 17 | g.10648592C>G | CA398109676 | MYH3 | c.700G>C (p.Ala234Pro) | |
| 17 | g.10648592C>T | CA123762 | MYH3 | c.700G>A (p.Ala234Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |