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 |
|---|---|---|---|---|---|
| 14 | g.23418180_23418193del | CA2800863422 | MYH7 | c.4169+17_4169+30del (n.4169+17_4169+30del) | |
| 14 | g.23418182G>A | CA613318025 | MYH7 | c.4169+28C>T (n.4169+28C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23418182G= | CA2123442363 | MYH7 | c.4169+28C= (n.4169+28C=) | |
| 14 | g.23418183C>A | CA2800863425 | MYH7 | c.4169+27G>T (n.4169+27G>T) | |
| 14 | g.23418185A= | CA2123442364 | MYH7 | c.4169+25T= (n.4169+25T=) | |
| 14 | g.23418185A>G | CA613318026 | MYH7 | c.4169+25T>C (n.4169+25T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23418188A= | CA2123442367 | MYH7 | c.4169+22T= (n.4169+22T=) | |
| 14 | g.23418188A>T | CA257813670 | MYH7 | c.4169+22T>A (n.4169+22T>A) | dbSNP |
| 14 | g.23418189G>A | CA2575504213 | MYH7 | c.4169+21C>T (n.4169+21C>T) | |
| 14 | g.23418193G>A | CA2575504214 | MYH7 | c.4169+17C>T (n.4169+17C>T) | |
| 14 | g.23418193G>C | CA257813673 | MYH7 | c.4169+17C>G (n.4169+17C>G) | dbSNP |
| 14 | g.23418193G= | CA2123442370 | MYH7 | c.4169+17C= (n.4169+17C=) | |
| 14 | g.23418196T>A | CA2624240008 | MYH7 | c.4169+14A>T (n.4169+14A>T) | gnomAD v4 |
| 14 | g.23418197G>A | CA2624240009 | MYH7 | c.4169+13C>T (n.4169+13C>T) | gnomAD v4 |
| 14 | g.23418197G>C | CA2624240010 | MYH7 | c.4169+13C>G (n.4169+13C>G) | gnomAD v4 |
| 14 | g.23418197G>T | CA2624240012 | MYH7 | c.4169+13C>A (n.4169+13C>A) | gnomAD v4 |
| 14 | g.23418198C= | CA2123442374 | MYH7 | c.4169+12G= (n.4169+12G=) | |
| 14 | g.23418198C>T | CA613318027 | MYH7 | c.4169+12G>A (n.4169+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418200C= | CA2123442376 | MYH7 | c.4169+10G= (n.4169+10G=) | |
| 14 | g.23418200C>T | CA613318028 | MYH7 | c.4169+10G>A (n.4169+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23418202G>A | CA613318029 | MYH7 | c.4169+8C>T (n.4169+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23418202G= | CA2123442378 | MYH7 | c.4169+8C= (n.4169+8C=) | |
| 14 | g.23418203A= | CA2123442382 | MYH7 | c.4169+7T= (n.4169+7T=) | |
| 14 | g.23418203A>G | CA704287707 | MYH7 | c.4169+7T>C (n.4169+7T>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418204A= | CA2123442385 | MYH7 | c.4169+6T= (n.4169+6T=) | |
| 14 | g.23418204A>C | CA10639968 | MYH7 | c.4169+6T>G (n.4169+6T>G) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418208A>C | CA389040685 | MYH7 | c.4169+2T>G (n.4169+2T>G) | |
| 14 | g.23418208A>G | CA389040686 | MYH7 | c.4169+2T>C (n.4169+2T>C) | |
| 14 | g.23418208A>T | CA389040688 | MYH7 | c.4169+2T>A (n.4169+2T>A) | |
| 14 | g.23418209C>A | CA389040689 | MYH7 | c.4169+1G>T (n.4169+1G>T) | |
| 14 | g.23418209C>G | CA389040691 | MYH7 | c.4169+1G>C (n.4169+1G>C) | |
| 14 | g.23418209C>T | CA389040692 | MYH7 | c.4169+1G>A (n.4169+1G>A) | |
| 14 | g.23418210T>A | CA389040694 | MYH7 | c.4169A>T (p.Lys1390Met) | |
| 14 | g.23418210T>C | CA389040696 | MYH7 | c.4169A>G (p.Lys1390Arg) | ClinVar dbSNP |
| 14 | g.23418210T>G | CA389040698 | MYH7 | c.4169A>C (p.Lys1390Thr) | |
| 14 | g.23418210T= | CA2123442390 | MYH7 | c.4169A= (p.Lys1390=) | |
| 14 | g.23418211T>A | CA389040699 | MYH7 | c.4168A>T (p.Lys1390Ter) | |
| 14 | g.23418211T>C | CA389040700 | MYH7 | c.4168A>G (p.Lys1390Glu) | |
| 14 | g.23418211T>G | CA389040702 | MYH7 | c.4168A>C (p.Lys1390Gln) | |
| 14 | g.23418212G>A | CA485618255 | MYH7 | c.4167C>T (p.Ala1389=) | gnomAD v4 |
| 14 | g.23418212G>C | CA485618256 | MYH7 | c.4167C>G (p.Ala1389=) | |
| 14 | g.23418212G>T | CA485618258 | MYH7 | c.4167C>A (p.Ala1389=) | |
| 14 | g.23418213del | CA2729049331 | MYH7 | c.4167del (p.Lys1390ArgfsTer?) | dbSNP |
| 14 | g.23418213G>A | CA389040707 | MYH7 | c.4166C>T (p.Ala1389Val) | |
| 14 | g.23418213G>C | CA389040706 | MYH7 | c.4166C>G (p.Ala1389Gly) | |
| 14 | g.23418213G>T | CA389040704 | MYH7 | c.4166C>A (p.Ala1389Asp) | |
| 14 | g.23418214C>A | CA389040708 | MYH7 | c.4165G>T (p.Ala1389Ser) | |
| 14 | g.23418214C>G | CA389040710 | MYH7 | c.4165G>C (p.Ala1389Pro) | |
| 14 | g.23418214C>T | CA389040712 | MYH7 | c.4165G>A (p.Ala1389Thr) | |
| 14 | g.23418215C>A | CA389040713 | MYH7 | c.4164G>T (p.Glu1388Asp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418215C= | CA2123442394 | MYH7 | c.4164G= (p.Glu1388=) | |
| 14 | g.23418215C>G | CA389040715 | MYH7 | c.4164G>C (p.Glu1388Asp) | |
| 14 | g.23418215C>T | CA485618259 | MYH7 | c.4164G>A (p.Glu1388=) | ClinVar dbSNP |
| 14 | g.23418216T>A | CA389040717 | MYH7 | c.4163A>T (p.Glu1388Val) | |
| 14 | g.23418216T>C | CA389040722 | MYH7 | c.4163A>G (p.Glu1388Gly) | |
| 14 | g.23418216T>G | CA389040723 | MYH7 | c.4163A>C (p.Glu1388Ala) | |
| 14 | g.23418217C>A | CA389040726 | MYH7 | c.4162G>T (p.Glu1388Ter) | |
| 14 | g.23418217C>G | CA389040729 | MYH7 | c.4162G>C (p.Glu1388Gln) | ClinVar |
| 14 | g.23418217C>T | CA389040727 | MYH7 | c.4162G>A (p.Glu1388Lys) | |
| 14 | g.23418218C>A | CA389040730 | MYH7 | c.4161G>T (p.Glu1387Asp) | COSMIC |
| 14 | g.23418218C= | CA2123442397 | MYH7 | c.4161G= (p.Glu1387=) | |
| 14 | g.23418218C>G | CA389040732 | MYH7 | c.4161G>C (p.Glu1387Asp) | |
| 14 | g.23418218C>T | CA485618262 | MYH7 | c.4161G>A (p.Glu1387=) | dbSNP gnomAD v4 |
| 14 | g.23418219T>A | CA389040733 | MYH7 | c.4160A>T (p.Glu1387Val) | |
| 14 | g.23418219T>C | CA389040734 | MYH7 | c.4160A>G (p.Glu1387Gly) | |
| 14 | g.23418219T>G | CA389040736 | MYH7 | c.4160A>C (p.Glu1387Ala) | |
| 14 | g.23418220C>A | CA389040737 | MYH7 | c.4159G>T (p.Glu1387Ter) | |
| 14 | g.23418220C= | CA2123442400 | MYH7 | c.4159G= (p.Glu1387=) | |
| 14 | g.23418220C>G | CA040548 | MYH7 | c.4159G>C (p.Glu1387Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23418220C>T | CA014551 | MYH7 | c.4159G>A (p.Glu1387Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23418221G>A | CA10634753 | MYH7 | c.4158C>T (p.Leu1386=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418221G>C | CA485618265 | MYH7 | c.4158C>G (p.Leu1386=) | dbSNP |
| 14 | g.23418221G= | CA2123442405 | MYH7 | c.4158C= (p.Leu1386=) | |
| 14 | g.23418221G>T | CA485618266 | MYH7 | c.4158C>A (p.Leu1386=) | |
| 14 | g.23418222A>C | CA389040741 | MYH7 | c.4157T>G (p.Leu1386Arg) | |
| 14 | g.23418222A>G | CA389040742 | MYH7 | c.4157T>C (p.Leu1386Pro) | |
| 14 | g.23418222A>T | CA389040744 | MYH7 | c.4157T>A (p.Leu1386His) | |
| 14 | g.23418223G>A | CA014542 | MYH7 | c.4156C>T (p.Leu1386Phe) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418223G>C | CA389040746 | MYH7 | c.4156C>G (p.Leu1386Val) | ClinVar dbSNP |
| 14 | g.23418223G= | CA2123442419 | MYH7 | c.4156C= (p.Leu1386=) | |
| 14 | g.23418223G>T | CA389040747 | MYH7 | c.4156C>A (p.Leu1386Ile) | |
| 14 | g.23418224C>A | CA389040749 | MYH7 | c.4155G>T (p.Glu1385Asp) | |
| 14 | g.23418224C>G | CA389040750 | MYH7 | c.4155G>C (p.Glu1385Asp) | |
| 14 | g.23418224C>T | CA485618267 | MYH7 | c.4155G>A (p.Glu1385=) | gnomAD v4 |
| 14 | g.23418225T>A | CA389040752 | MYH7 | c.4154A>T (p.Glu1385Val) | |
| 14 | g.23418225T>C | CA389040754 | MYH7 | c.4154A>G (p.Glu1385Gly) | |
| 14 | g.23418225T>G | CA389040755 | MYH7 | c.4154A>C (p.Glu1385Ala) | |
| 14 | g.23418226C>A | CA389040757 | MYH7 | c.4153G>T (p.Glu1385Ter) | gnomAD v4 COSMIC |
| 14 | g.23418226C>G | CA389040760 | MYH7 | c.4153G>C (p.Glu1385Gln) | |
| 14 | g.23418226C>T | CA389040758 | MYH7 | c.4153G>A (p.Glu1385Lys) | COSMIC |
| 14 | g.23418227C>A | CA389040762 | MYH7 | c.4152G>T (p.Glu1384Asp) | |
| 14 | g.23418227C>G | CA389040763 | MYH7 | c.4152G>C (p.Glu1384Asp) | |
| 14 | g.23418227C>T | CA485618270 | MYH7 | c.4152G>A (p.Glu1384=) | |
| 14 | g.23418228T>A | CA389040766 | MYH7 | c.4151A>T (p.Glu1384Val) | |
| 14 | g.23418228T>C | CA389040767 | MYH7 | c.4151A>G (p.Glu1384Gly) | |
| 14 | g.23418228T>G | CA389040768 | MYH7 | c.4151A>C (p.Glu1384Ala) | |
| 14 | g.23418229C>A | CA389040771 | MYH7 | c.4150G>T (p.Glu1384Ter) | |
| 14 | g.23418229C>G | CA389040770 | MYH7 | c.4150G>C (p.Glu1384Gln) | |
| 14 | g.23418229C>T | CA389040769 | MYH7 | c.4150G>A (p.Glu1384Lys) | |
| 14 | g.23418230A= | CA2123442426 | MYH7 | c.4149T= (p.Thr1383=) | |
| 14 | g.23418230A>C | CA485618273 | MYH7 | c.4149T>G (p.Thr1383=) | ClinVar dbSNP |
| 14 | g.23418230A>G | CA485618274 | MYH7 | c.4149T>C (p.Thr1383=) | |
| 14 | g.23418230A>T | CA485618275 | MYH7 | c.4149T>A (p.Thr1383=) | |
| 14 | g.23418231G>A | CA389040772 | MYH7 | c.4148C>T (p.Thr1383Ile) | |
| 14 | g.23418231G>C | CA389040774 | MYH7 | c.4148C>G (p.Thr1383Ser) | |
| 14 | g.23418231G>T | CA389040776 | MYH7 | c.4148C>A (p.Thr1383Asn) | |
| 14 | g.23418232T>A | CA389040777 | MYH7 | c.4147A>T (p.Thr1383Ser) | |
| 14 | g.23418232T>C | CA389040779 | MYH7 | c.4147A>G (p.Thr1383Ala) | |
| 14 | g.23418232T>G | CA389040780 | MYH7 | c.4147A>C (p.Thr1383Pro) | |
| 14 | g.23418233C>A | CA485618277 | MYH7 | c.4146G>T (p.Arg1382=) | |
| 14 | g.23418233C>G | CA485618278 | MYH7 | c.4146G>C (p.Arg1382=) | |
| 14 | g.23418233C>T | CA485618279 | MYH7 | c.4146G>A (p.Arg1382=) | |
| 14 | g.23418234C>A | CA389040781 | MYH7 | c.4145G>T (p.Arg1382Leu) | ClinVar dbSNP |
| 14 | g.23418234C= | CA2123442432 | MYH7 | c.4145G= (p.Arg1382=) | |
| 14 | g.23418234C>G | CA389040783 | MYH7 | c.4145G>C (p.Arg1382Pro) | |
| 14 | g.23418234C>T | CA014533 | MYH7 | c.4145G>A (p.Arg1382Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418235G>A | CA014527 | MYH7 | c.4144C>T (p.Arg1382Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23418235G>C | CA389040786 | MYH7 | c.4144C>G (p.Arg1382Gly) | |
| 14 | g.23418235G= | CA2123442439 | MYH7 | c.4144C= (p.Arg1382=) | |
| 14 | g.23418235G>T | CA257813695 | MYH7 | c.4144C>A (p.Arg1382=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418236C>A | CA389040787 | MYH7 | c.4143G>T (p.Gln1381His) | |
| 14 | g.23418236C>G | CA389040788 | MYH7 | c.4143G>C (p.Gln1381His) | |
| 14 | g.23418236C>T | CA485618283 | MYH7 | c.4143G>A (p.Gln1381=) | |
| 14 | g.23418237T>A | CA389040791 | MYH7 | c.4142A>T (p.Gln1381Leu) | |
| 14 | g.23418237T>C | CA389040792 | MYH7 | c.4142A>G (p.Gln1381Arg) | |
| 14 | g.23418237T>G | CA389040793 | MYH7 | c.4142A>C (p.Gln1381Pro) | |
| 14 | g.23418238G>A | CA389040795 | MYH7 | c.4141C>T (p.Gln1381Ter) | gnomAD v4 |
| 14 | g.23418238G>C | CA014517 | MYH7 | c.4141C>G (p.Gln1381Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23418238G= | CA2123442444 | MYH7 | c.4141C= (p.Gln1381=) | |
| 14 | g.23418238G>T | CA389040798 | MYH7 | c.4141C>A (p.Gln1381Lys) | |
| 14 | g.23418239A= | CA2123442446 | MYH7 | c.4140T= (p.Ile1380=) | |
| 14 | g.23418239A>C | CA389040799 | MYH7 | c.4140T>G (p.Ile1380Met) | |
| 14 | g.23418239A>G | CA485618290 | MYH7 | c.4140T>C (p.Ile1380=) | |
| 14 | g.23418239A>T | CA485618291 | MYH7 | c.4140T>A (p.Ile1380=) | dbSNP |
| 14 | g.23418240A>C | CA389040800 | MYH7 | c.4139T>G (p.Ile1380Ser) | |
| 14 | g.23418240A>G | CA389040804 | MYH7 | c.4139T>C (p.Ile1380Thr) | |
| 14 | g.23418240A>T | CA389040802 | MYH7 | c.4139T>A (p.Ile1380Asn) | |
| 14 | g.23418241T>A | CA389040805 | MYH7 | c.4138A>T (p.Ile1380Phe) | gnomAD v4 |
| 14 | g.23418241T>C | CA040518 | MYH7 | c.4138A>G (p.Ile1380Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23418241T>G | CA389040807 | MYH7 | c.4138A>C (p.Ile1380Leu) | |
| 14 | g.23418241T= | CA2123442450 | MYH7 | c.4138A= (p.Ile1380=) | |
| 14 | g.23418242G>A | CA040498 | MYH7 | c.4137C>T (p.Ala1379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23418242G>C | CA485618298 | MYH7 | c.4137C>G (p.Ala1379=) | |
| 14 | g.23418242G= | CA2123442459 | MYH7 | c.4137C= (p.Ala1379=) | |
| 14 | g.23418242G>T | CA485618296 | MYH7 | c.4137C>A (p.Ala1379=) | |
| 14 | g.23418243G>A | CA389040810 | MYH7 | c.4136C>T (p.Ala1379Val) | |
| 14 | g.23418243G>C | CA389040811 | MYH7 | c.4136C>G (p.Ala1379Gly) | |
| 14 | g.23418243G= | CA2123442465 | MYH7 | c.4136C= (p.Ala1379=) | |
| 14 | g.23418243G>T | CA014513 | MYH7 | c.4136C>A (p.Ala1379Asp) | ClinVar dbSNP |
| 14 | g.23418244C>A | CA389040813 | MYH7 | c.4135G>T (p.Ala1379Ser) | ClinVar dbSNP |
| 14 | g.23418244C= | CA2123442472 | MYH7 | c.4135G= (p.Ala1379=) | |
| 14 | g.23418244C>G | CA389040814 | MYH7 | c.4135G>C (p.Ala1379Pro) | |
| 14 | g.23418244C>T | CA014503 | MYH7 | c.4135G>A (p.Ala1379Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418245G>A | CA040474 | MYH7 | c.4134C>T (p.Asp1378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418245G>C | CA389040818 | MYH7 | c.4134C>G (p.Asp1378Glu) | |
| 14 | g.23418245G= | CA2123442480 | MYH7 | c.4134C= (p.Asp1378=) | |
| 14 | g.23418245G>T | CA389040819 | MYH7 | c.4134C>A (p.Asp1378Glu) | |
| 14 | g.23418246T>A | CA389040824 | MYH7 | c.4133A>T (p.Asp1378Val) | |
| 14 | g.23418246T>C | CA389040822 | MYH7 | c.4133A>G (p.Asp1378Gly) | ClinVar |
| 14 | g.23418246T>G | CA389040821 | MYH7 | c.4133A>C (p.Asp1378Ala) | |
| 14 | g.23418247C>A | CA389040828 | MYH7 | c.4132G>T (p.Asp1378Tyr) | |
| 14 | g.23418247C= | CA2123442485 | MYH7 | c.4132G= (p.Asp1378=) | |
| 14 | g.23418247C>G | CA389040830 | MYH7 | c.4132G>C (p.Asp1378His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23418247C>T | CA389040831 | MYH7 | c.4132G>A (p.Asp1378Asn) | |
| 14 | g.23418248C>A | CA040456 | MYH7 | c.4131G>T (p.Thr1377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418248C= | CA2123442496 | MYH7 | c.4131G= (p.Thr1377=) | |
| 14 | g.23418248C>G | CA485618306 | MYH7 | c.4131G>C (p.Thr1377=) | |
| 14 | g.23418248C>T | CA040443 | MYH7 | c.4131G>A (p.Thr1377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418249G>A | CA014494 | MYH7 | c.4130C>T (p.Thr1377Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418249G>C | CA389040835 | MYH7 | c.4130C>G (p.Thr1377Arg) | |
| 14 | g.23418249G= | CA2123442503 | MYH7 | c.4130C= (p.Thr1377=) | |
| 14 | g.23418249G>T | CA389040836 | MYH7 | c.4130C>A (p.Thr1377Lys) | |
| 14 | g.23418250T>A | CA389040838 | MYH7 | c.4129A>T (p.Thr1377Ser) | |
| 14 | g.23418250T>C | CA389040840 | MYH7 | c.4129A>G (p.Thr1377Ala) | |
| 14 | g.23418250T>G | CA389040841 | MYH7 | c.4129A>C (p.Thr1377Pro) | |
| 14 | g.23418251C>A | CA389040843 | MYH7 | c.4128G>T (p.Glu1376Asp) | |
| 14 | g.23418251C= | CA2123442505 | MYH7 | c.4128G= (p.Glu1376=) | |
| 14 | g.23418251C>G | CA389040844 | MYH7 | c.4128G>C (p.Glu1376Asp) | dbSNP gnomAD v4 |
| 14 | g.23418251C>T | CA485618308 | MYH7 | c.4128G>A (p.Glu1376=) | |
| 14 | g.23418252T>A | CA389040847 | MYH7 | c.4127A>T (p.Glu1376Val) | |
| 14 | g.23418252T>C | CA389040848 | MYH7 | c.4127A>G (p.Glu1376Gly) | |
| 14 | g.23418252T>G | CA389040846 | MYH7 | c.4127A>C (p.Glu1376Ala) | |
| 14 | g.23418253C>A | CA389040849 | MYH7 | c.4126G>T (p.Glu1376Ter) | |
| 14 | g.23418253C= | CA2123442508 | MYH7 | c.4126G= (p.Glu1376=) | |
| 14 | g.23418253C>G | CA389040851 | MYH7 | c.4126G>C (p.Glu1376Gln) | |
| 14 | g.23418253C>T | CA014488 | MYH7 | c.4126G>A (p.Glu1376Lys) | ClinVar dbSNP |
| 14 | g.23418254A= | CA2123442513 | MYH7 | c.4125T= (p.Tyr1375=) | |
| 14 | g.23418254A>C | CA389040853 | MYH7 | c.4125T>G (p.Tyr1375Ter) | |
| 14 | g.23418254A>G | CA485618310 | MYH7 | c.4125T>C (p.Tyr1375=) | |
| 14 | g.23418254A>T | CA389040855 | MYH7 | c.4125T>A (p.Tyr1375Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418255T>A | CA389040857 | MYH7 | c.4124A>T (p.Tyr1375Phe) | |
| 14 | g.23418255T>C | CA014482 | MYH7 | c.4124A>G (p.Tyr1375Cys) | ClinVar dbSNP |
| 14 | g.23418255T>G | CA389040859 | MYH7 | c.4124A>C (p.Tyr1375Ser) | |
| 14 | g.23418255T= | CA2123442520 | MYH7 | c.4124A= (p.Tyr1375=) | |
| 14 | g.23418256A= | CA2123442526 | MYH7 | c.4123T= (p.Tyr1375=) | |
| 14 | g.23418256A>C | CA389040861 | MYH7 | c.4123T>G (p.Tyr1375Asp) | |
| 14 | g.23418256A>G | CA014472 | MYH7 | c.4123T>C (p.Tyr1375His) | ClinVar dbSNP COSMIC |
| 14 | g.23418256A>T | CA389040863 | MYH7 | c.4123T>A (p.Tyr1375Asn) | |
| 14 | g.23418257C>A | CA389040865 | MYH7 | c.4122G>T (p.Lys1374Asn) | |
| 14 | g.23418257C= | CA2123442529 | MYH7 | c.4122G= (p.Lys1374=) | |
| 14 | g.23418257C>G | CA389040867 | MYH7 | c.4122G>C (p.Lys1374Asn) | |
| 14 | g.23418257C>T | CA485618313 | MYH7 | c.4122G>A (p.Lys1374=) | ClinVar dbSNP |
| 14 | g.23418258T>A | CA389040868 | MYH7 | c.4121A>T (p.Lys1374Met) | |
| 14 | g.23418258T>C | CA389040871 | MYH7 | c.4121A>G (p.Lys1374Arg) | |
| 14 | g.23418258T>G | CA389040870 | MYH7 | c.4121A>C (p.Lys1374Thr) | |
| 14 | g.23418259T>A | CA389040873 | MYH7 | c.4120A>T (p.Lys1374Ter) | |
| 14 | g.23418259T>C | CA389040874 | MYH7 | c.4120A>G (p.Lys1374Glu) | |
| 14 | g.23418259T>G | CA389040876 | MYH7 | c.4120A>C (p.Lys1374Gln) | |
| 14 | g.23418260G>A | CA485618316 | MYH7 | c.4119C>T (p.Thr1373=) | |
| 14 | g.23418260G>C | CA485618317 | MYH7 | c.4119C>G (p.Thr1373=) | dbSNP |
| 14 | g.23418260G= | CA2123442530 | MYH7 | c.4119C= (p.Thr1373=) | |
| 14 | g.23418260G>T | CA485618319 | MYH7 | c.4119C>A (p.Thr1373=) | ClinVar |
| 14 | g.23418261G>A | CA014462 | MYH7 | c.4118C>T (p.Thr1373Ile) | ClinVar dbSNP |
| 14 | g.23418261G>C | CA389040878 | MYH7 | c.4118C>G (p.Thr1373Ser) | COSMIC |
| 14 | g.23418261G= | CA2123442536 | MYH7 | c.4118C= (p.Thr1373=) | |
| 14 | g.23418261G>T | CA389040880 | MYH7 | c.4118C>A (p.Thr1373Asn) | |
| 14 | g.23418262T>A | CA389040882 | MYH7 | c.4117A>T (p.Thr1373Ser) | |
| 14 | g.23418262T>C | CA389040883 | MYH7 | c.4117A>G (p.Thr1373Ala) | |
| 14 | g.23418262T>G | CA389040885 | MYH7 | c.4117A>C (p.Thr1373Pro) | |
| 14 | g.23418263C>A | CA389040886 | MYH7 | c.4116G>T (p.Arg1372Ser) | |
| 14 | g.23418263C>G | CA389040887 | MYH7 | c.4116G>C (p.Arg1372Ser) | |
| 14 | g.23418263C>T | CA485618324 | MYH7 | c.4116G>A (p.Arg1372=) | |
| 14 | g.23418264C>A | CA389040890 | MYH7 | c.4115G>T (p.Arg1372Met) | |
| 14 | g.23418264C>G | CA389040891 | MYH7 | c.4115G>C (p.Arg1372Thr) | |
| 14 | g.23418264C>T | CA389040889 | MYH7 | c.4115G>A (p.Arg1372Lys) | gnomAD v4 |
| 14 | g.23418265T>A | CA389040892 | MYH7 | c.4114A>T (p.Arg1372Trp) | |
| 14 | g.23418265T>C | CA389040893 | MYH7 | c.4114A>G (p.Arg1372Gly) | |
| 14 | g.23418265T>G | CA485618325 | MYH7 | c.4114A>C (p.Arg1372=) | |
| 14 | g.23418266C>A | CA389040894 | MYH7 | c.4113G>T (p.Trp1371Cys) | |
| 14 | g.23418266C>G | CA389040896 | MYH7 | c.4113G>C (p.Trp1371Cys) | |
| 14 | g.23418266C>T | CA389040895 | MYH7 | c.4113G>A (p.Trp1371Ter) | COSMIC |
| 14 | g.23418267C>A | CA389040897 | MYH7 | c.4112G>T (p.Trp1371Leu) | |
| 14 | g.23418267C>G | CA389040899 | MYH7 | c.4112G>C (p.Trp1371Ser) | |
| 14 | g.23418267C>T | CA389040898 | MYH7 | c.4112G>A (p.Trp1371Ter) | gnomAD v4 COSMIC |
| 14 | g.23418268A= | CA2123442542 | MYH7 | c.4111T= (p.Trp1371=) | |
| 14 | g.23418268A>C | CA389040900 | MYH7 | c.4111T>G (p.Trp1371Gly) | |
| 14 | g.23418268A>G | CA389040903 | MYH7 | c.4111T>C (p.Trp1371Arg) | |
| 14 | g.23418268A>T | CA389040901 | MYH7 | c.4111T>A (p.Trp1371Arg) | dbSNP |
| 14 | g.23418269C>A | CA389040904 | MYH7 | c.4110G>T (p.Gln1370His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23418269C= | CA2123442546 | MYH7 | c.4110G= (p.Gln1370=) | |
| 14 | g.23418269C>G | CA389040905 | MYH7 | c.4110G>C (p.Gln1370His) | |
| 14 | g.23418269C>T | CA485618334 | MYH7 | c.4110G>A (p.Gln1370=) | ClinVar dbSNP |
| 14 | g.23418270T>A | CA389040906 | MYH7 | c.4109A>T (p.Gln1370Leu) | |
| 14 | g.23418270T>C | CA389040907 | MYH7 | c.4109A>G (p.Gln1370Arg) | |
| 14 | g.23418270T>G | CA389040908 | MYH7 | c.4109A>C (p.Gln1370Pro) | |
| 14 | g.23418271G>A | CA389040913 | MYH7 | c.4108C>T (p.Gln1370Ter) | |
| 14 | g.23418271G>C | CA389040912 | MYH7 | c.4108C>G (p.Gln1370Glu) | |
| 14 | g.23418271G= | CA2123442549 | MYH7 | c.4108C= (p.Gln1370=) | |
| 14 | g.23418271G>T | CA389040910 | MYH7 | c.4108C>A (p.Gln1370Lys) | dbSNP gnomAD v4 |
| 14 | g.23418272G>A | CA485618347 | MYH7 | c.4107C>T (p.Ala1369=) | COSMIC |
| 14 | g.23418272G>C | CA485618345 | MYH7 | c.4107C>G (p.Ala1369=) | |
| 14 | g.23418272G>T | CA485618343 | MYH7 | c.4107C>A (p.Ala1369=) | |
| 14 | g.23418273G>A | CA389040914 | MYH7 | c.4106C>T (p.Ala1369Val) | COSMIC |
| 14 | g.23418273G>C | CA389040916 | MYH7 | c.4106C>G (p.Ala1369Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418273G= | CA2123442557 | MYH7 | c.4106C= (p.Ala1369=) | |
| 14 | g.23418273G>T | CA389040917 | MYH7 | c.4106C>A (p.Ala1369Asp) | |
| 14 | g.23418274C>A | CA257813759 | MYH7 | c.4105G>T (p.Ala1369Ser) | dbSNP |
| 14 | g.23418274C= | CA2123442562 | MYH7 | c.4105G= (p.Ala1369=) | |
| 14 | g.23418274C>G | CA389040920 | MYH7 | c.4105G>C (p.Ala1369Pro) | |
| 14 | g.23418274C>T | CA389040921 | MYH7 | c.4105G>A (p.Ala1369Thr) | gnomAD v4 COSMIC |
| 14 | g.23418275C>A | CA485618355 | MYH7 | c.4104G>T (p.Val1368=) | |
| 14 | g.23418275C>G | CA485618357 | MYH7 | c.4104G>C (p.Val1368=) | |
| 14 | g.23418275C>T | CA485618358 | MYH7 | c.4104G>A (p.Val1368=) | gnomAD v4 |
| 14 | g.23418276A= | CA2123442563 | MYH7 | c.4103T= (p.Val1368=) | |
| 14 | g.23418276A>C | CA257813773 | MYH7 | c.4103T>G (p.Val1368Gly) | dbSNP |
| 14 | g.23418276A>G | CA389040923 | MYH7 | c.4103T>C (p.Val1368Ala) | |
| 14 | g.23418276A>T | CA389040924 | MYH7 | c.4103T>A (p.Val1368Glu) | |
| 14 | g.23418277C>A | CA389040927 | MYH7 | c.4102G>T (p.Val1368Leu) | ClinVar dbSNP |
| 14 | g.23418277C= | CA2123442569 | MYH7 | c.4102G= (p.Val1368=) | |
| 14 | g.23418277C>G | CA389040928 | MYH7 | c.4102G>C (p.Val1368Leu) | |
| 14 | g.23418277C>T | CA040417 | MYH7 | c.4102G>A (p.Val1368Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23418278del | CA2624227728 | MYH7 | c.4102del (p.Val1368TrpfsTer?) | gnomAD v4 |
| 14 | g.23418278C>A | CA389040930 | MYH7 | c.4101G>T (p.Glu1367Asp) | |
| 14 | g.23418278C>G | CA389040932 | MYH7 | c.4101G>C (p.Glu1367Asp) | |
| 14 | g.23418278C>T | CA485618367 | MYH7 | c.4101G>A (p.Glu1367=) | |
| 14 | g.23418279T>A | CA389040934 | MYH7 | c.4100A>T (p.Glu1367Val) | |
| 14 | g.23418279T>C | CA389040935 | MYH7 | c.4100A>G (p.Glu1367Gly) | |
| 14 | g.23418279T>G | CA389040937 | MYH7 | c.4100A>C (p.Glu1367Ala) | |
| 14 | g.23418280C>A | CA389040938 | MYH7 | c.4099G>T (p.Glu1367Ter) | |
| 14 | g.23418280C= | CA2123442577 | MYH7 | c.4099G= (p.Glu1367=) | |
| 14 | g.23418280C>G | CA389040940 | MYH7 | c.4099G>C (p.Glu1367Gln) | |
| 14 | g.23418280C>T | CA389040941 | MYH7 | c.4099G>A (p.Glu1367Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23418281del | CA2624227749 | MYH7 | c.4099del (p.Glu1367ArgfsTer?) | ClinVar gnomAD v4 |
| 14 | g.23418281C>A | CA485618375 | MYH7 | c.4098G>T (p.Ser1366=) | |
| 14 | g.23418281C= | CA2123442584 | MYH7 | c.4098G= (p.Ser1366=) | |
| 14 | g.23418281C>G | CA485618376 | MYH7 | c.4098G>C (p.Ser1366=) | |
| 14 | g.23418281C>T | CA040408 | MYH7 | c.4098G>A (p.Ser1366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418282G>A | CA040392 | MYH7 | c.4097C>T (p.Ser1366Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418282G>C | CA389040944 | MYH7 | c.4097C>G (p.Ser1366Trp) | |
| 14 | g.23418282G= | CA2123442588 | MYH7 | c.4097C= (p.Ser1366=) | |
| 14 | g.23418282G>T | CA389040945 | MYH7 | c.4097C>A (p.Ser1366Ter) |