OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.23418248del | CA2825002213 | MYH7 | c.4132del (p.Asp1378ThrfsTer?) | ClinVar |
| 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) | ClinVar 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) | |
| 14 | g.23418283A= | CA2123442593 | MYH7 | c.4096T= (p.Ser1366=) | |
| 14 | g.23418283A>C | CA389040948 | MYH7 | c.4096T>G (p.Ser1366Ala) | |
| 14 | g.23418283A>G | CA389040949 | MYH7 | c.4096T>C (p.Ser1366Pro) | |
| 14 | g.23418283A>T | CA389040950 | MYH7 | c.4096T>A (p.Ser1366Thr) | dbSNP |
| 14 | g.23418284G>A | CA485618385 | MYH7 | c.4095C>T (p.Asn1365=) | |
| 14 | g.23418284G>C | CA389040951 | MYH7 | c.4095C>G (p.Asn1365Lys) | |
| 14 | g.23418284G>T | CA389040952 | MYH7 | c.4095C>A (p.Asn1365Lys) | gnomAD v4 |
| 14 | g.23418285T>A | CA389040957 | MYH7 | c.4094A>T (p.Asn1365Ile) | |
| 14 | g.23418285T>C | CA389040955 | MYH7 | c.4094A>G (p.Asn1365Ser) | |
| 14 | g.23418285T>G | CA389040954 | MYH7 | c.4094A>C (p.Asn1365Thr) | |
| 14 | g.23418286T>A | CA389040958 | MYH7 | c.4093A>T (p.Asn1365Tyr) | |
| 14 | g.23418286T>C | CA014452 | MYH7 | c.4093A>G (p.Asn1365Asp) | ClinVar dbSNP |
| 14 | g.23418286T>G | CA389040959 | MYH7 | c.4093A>C (p.Asn1365His) | |
| 14 | g.23418286T= | CA2123442597 | MYH7 | c.4093A= (p.Asn1365=) | |
| 14 | g.23418287G>A | CA485618393 | MYH7 | c.4092C>T (p.Ala1364=) | gnomAD v4 |
| 14 | g.23418287G>C | CA485618395 | MYH7 | c.4092C>G (p.Ala1364=) | |
| 14 | g.23418287G>T | CA485618397 | MYH7 | c.4092C>A (p.Ala1364=) | |
| 14 | g.23418288G>A | CA389040961 | MYH7 | c.4091C>T (p.Ala1364Val) | gnomAD v4 |
| 14 | g.23418288G>C | CA389040962 | MYH7 | c.4091C>G (p.Ala1364Gly) | |
| 14 | g.23418288G>T | CA389040964 | MYH7 | c.4091C>A (p.Ala1364Asp) | |
| 14 | g.23418289C>A | CA389040965 | MYH7 | c.4090G>T (p.Ala1364Ser) | |
| 14 | g.23418289C= | CA2123442600 | MYH7 | c.4090G= (p.Ala1364=) | |
| 14 | g.23418289C>G | CA389040967 | MYH7 | c.4090G>C (p.Ala1364Pro) | |
| 14 | g.23418289C>T | CA040373 | MYH7 | c.4090G>A (p.Ala1364Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418290C>A | CA389040969 | MYH7 | c.4089G>T (p.Lys1363Asn) | |
| 14 | g.23418290C= | CA2123442604 | MYH7 | c.4089G= (p.Lys1363=) | |
| 14 | g.23418290C>G | CA389040971 | MYH7 | c.4089G>C (p.Lys1363Asn) | ClinVar dbSNP |
| 14 | g.23418290C>T | CA485618413 | MYH7 | c.4089G>A (p.Lys1363=) | |
| 14 | g.23418291T>A | CA389040973 | MYH7 | c.4088A>T (p.Lys1363Met) | |
| 14 | g.23418291T>C | CA389040974 | MYH7 | c.4088A>G (p.Lys1363Arg) | |
| 14 | g.23418291T>G | CA389040975 | MYH7 | c.4088A>C (p.Lys1363Thr) | |
| 14 | g.23418292T>A | CA389040977 | MYH7 | c.4087A>T (p.Lys1363Ter) | |
| 14 | g.23418292T>C | CA389040978 | MYH7 | c.4087A>G (p.Lys1363Glu) | |
| 14 | g.23418292T>G | CA389040980 | MYH7 | c.4087A>C (p.Lys1363Gln) | |
| 14 | g.23418293G>A | CA485618423 | MYH7 | c.4086C>T (p.Ser1362=) | |
| 14 | g.23418293G>C | CA485618427 | MYH7 | c.4086C>G (p.Ser1362=) | |
| 14 | g.23418293G>T | CA485618424 | MYH7 | c.4086C>A (p.Ser1362=) | |
| 14 | g.23418294G>A | CA389040982 | MYH7 | c.4085C>T (p.Ser1362Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23418294G>C | CA389040983 | MYH7 | c.4085C>G (p.Ser1362Cys) | |
| 14 | g.23418294G= | CA2123442608 | MYH7 | c.4085C= (p.Ser1362=) | |
| 14 | g.23418294G>T | CA389040984 | MYH7 | c.4085C>A (p.Ser1362Tyr) | |
| 14 | g.23418295A= | CA2123442612 | MYH7 | c.4084T= (p.Ser1362=) | |
| 14 | g.23418295A>C | CA389040986 | MYH7 | c.4084T>G (p.Ser1362Ala) | |
| 14 | g.23418295A>G | CA257813805 | MYH7 | c.4084T>C (p.Ser1362Pro) | ClinVar dbSNP |
| 14 | g.23418295A>T | CA257813811 | MYH7 | c.4084T>A (p.Ser1362Thr) | dbSNP |
| 14 | g.23418296A= | CA2123442617 | MYH7 | c.4083T= (p.Leu1361=) | |
| 14 | g.23418296A>C | CA040356 | MYH7 | c.4083T>G (p.Leu1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418296A>G | CA485618436 | MYH7 | c.4083T>C (p.Leu1361=) | |
| 14 | g.23418296A>T | CA485618438 | MYH7 | c.4083T>A (p.Leu1361=) | |
| 14 | g.23418297A>C | CA389040990 | MYH7 | c.4082T>G (p.Leu1361Arg) | |
| 14 | g.23418297A>G | CA389040992 | MYH7 | c.4082T>C (p.Leu1361Pro) | |
| 14 | g.23418297A>T | CA389040994 | MYH7 | c.4082T>A (p.Leu1361His) | |
| 14 | g.23418298G>A | CA389040995 | MYH7 | c.4081C>T (p.Leu1361Phe) | |
| 14 | g.23418298G>C | CA389040997 | MYH7 | c.4081C>G (p.Leu1361Val) | |
| 14 | g.23418298G>T | CA389040999 | MYH7 | c.4081C>A (p.Leu1361Ile) | ClinVar dbSNP |
| 14 | g.23418299G>A | CA485618446 | MYH7 | c.4080C>T (p.Val1360=) | |
| 14 | g.23418299G>C | CA485618448 | MYH7 | c.4080C>G (p.Val1360=) | |
| 14 | g.23418299G>T | CA485618449 | MYH7 | c.4080C>A (p.Val1360=) | |
| 14 | g.23418300A= | CA2123442622 | MYH7 | c.4079T= (p.Val1360=) | |
| 14 | g.23418300A>C | CA389041000 | MYH7 | c.4079T>G (p.Val1360Gly) | |
| 14 | g.23418300A>G | CA014443 | MYH7 | c.4079T>C (p.Val1360Ala) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418300A>T | CA389041002 | MYH7 | c.4079T>A (p.Val1360Asp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418301C>A | CA389041005 | MYH7 | c.4078G>T (p.Val1360Phe) | |
| 14 | g.23418301C= | CA2123442629 | MYH7 | c.4078G= (p.Val1360=) | |
| 14 | g.23418301C>G | CA389041006 | MYH7 | c.4078G>C (p.Val1360Leu) | |
| 14 | g.23418301C>T | CA014435 | MYH7 | c.4078G>A (p.Val1360Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418302G>A | CA014428 | MYH7 | c.4077C>T (p.Arg1359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418302G>C | CA485618458 | MYH7 | c.4077C>G (p.Arg1359=) | |
| 14 | g.23418302G= | CA2123442636 | MYH7 | c.4077C= (p.Arg1359=) | |
| 14 | g.23418302G>T | CA485618460 | MYH7 | c.4077C>A (p.Arg1359=) | dbSNP |
| 14 | g.23418303C>A | CA389041011 | MYH7 | c.4076G>T (p.Arg1359Leu) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418303C= | CA2123442642 | MYH7 | c.4076G= (p.Arg1359=) | |
| 14 | g.23418303C>G | CA389041009 | MYH7 | c.4076G>C (p.Arg1359Pro) | |
| 14 | g.23418303C>T | CA040309 | MYH7 | c.4076G>A (p.Arg1359His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23418304G>A | CA014422 | MYH7 | c.4075C>T (p.Arg1359Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418304G>C | CA389041014 | MYH7 | c.4075C>G (p.Arg1359Gly) | |
| 14 | g.23418304G= | CA2123442651 | MYH7 | c.4075C= (p.Arg1359=) | |
| 14 | g.23418304G>T | CA014415 | MYH7 | c.4075C>A (p.Arg1359Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418305C>A | CA389041016 | MYH7 | c.4074G>T (p.Gln1358His) | |
| 14 | g.23418305C= | CA2123442661 | MYH7 | c.4074G= (p.Gln1358=) | |
| 14 | g.23418305C>G | CA389041018 | MYH7 | c.4074G>C (p.Gln1358His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23418305C>T | CA040283 | MYH7 | c.4074G>A (p.Gln1358=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418306T>A | CA389041020 | MYH7 | c.4073A>T (p.Gln1358Leu) | |
| 14 | g.23418306T>C | CA389041021 | MYH7 | c.4073A>G (p.Gln1358Arg) | gnomAD v4 |
| 14 | g.23418306T>G | CA389041023 | MYH7 | c.4073A>C (p.Gln1358Pro) | gnomAD v4 |
| 14 | g.23418307G>A | CA389041026 | MYH7 | c.4072C>T (p.Gln1358Ter) | |
| 14 | g.23418307G>C | CA389041027 | MYH7 | c.4072C>G (p.Gln1358Glu) | |
| 14 | g.23418307G>T | CA389041029 | MYH7 | c.4072C>A (p.Gln1358Lys) | |
| 14 | g.23418308C>A | CA485618481 | MYH7 | c.4071G>T (p.Leu1357=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418308C= | CA2123442666 | MYH7 | c.4071G= (p.Leu1357=) | |
| 14 | g.23418308C>G | CA485618483 | MYH7 | c.4071G>C (p.Leu1357=) | |
| 14 | g.23418308C>T | CA485618486 | MYH7 | c.4071G>A (p.Leu1357=) | |
| 14 | g.23418309A= | CA2123442671 | MYH7 | c.4070T= (p.Leu1357=) | |
| 14 | g.23418309A>C | CA389041031 | MYH7 | c.4070T>G (p.Leu1357Arg) | ClinVar gnomAD v4 |
| 14 | g.23418309A>G | CA014407 | MYH7 | c.4070T>C (p.Leu1357Pro) | ClinVar dbSNP |
| 14 | g.23418309A>T | CA389041032 | MYH7 | c.4070T>A (p.Leu1357Gln) | |
| 14 | g.23418310G>A | CA485618489 | MYH7 | c.4069C>T (p.Leu1357=) | gnomAD v4 |
| 14 | g.23418310G>C | CA389041033 | MYH7 | c.4069C>G (p.Leu1357Val) | |
| 14 | g.23418310G>T | CA389041035 | MYH7 | c.4069C>A (p.Leu1357Met) | |
| 14 | g.23418311del | CA2800863450 | MYH7 | c.4068del (p.Glu1356AspfsTer?) | |
| 14 | g.23418311C>A | CA389041036 | MYH7 | c.4068G>T (p.Glu1356Asp) | |
| 14 | g.23418311C>G | CA389041038 | MYH7 | c.4068G>C (p.Glu1356Asp) | |
| 14 | g.23418311C>T | CA485618494 | MYH7 | c.4068G>A (p.Glu1356=) | |
| 14 | g.23418312T>A | CA389041039 | MYH7 | c.4067A>T (p.Glu1356Val) | |
| 14 | g.23418312T>C | CA389041040 | MYH7 | c.4067A>G (p.Glu1356Gly) | |
| 14 | g.23418312T>G | CA389041041 | MYH7 | c.4067A>C (p.Glu1356Ala) | |
| 14 | g.23418313C>A | CA389041043 | MYH7 | c.4066G>T (p.Glu1356Ter) | |
| 14 | g.23418313C= | CA2123442677 | MYH7 | c.4066G= (p.Glu1356=) | |
| 14 | g.23418313C>G | CA389041045 | MYH7 | c.4066G>C (p.Glu1356Gln) | |
| 14 | g.23418313C>T | CA014400 | MYH7 | c.4066G>A (p.Glu1356Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418314G>A | CA040268 | MYH7 | c.4065C>T (p.Ala1355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418314G>C | CA485618504 | MYH7 | c.4065C>G (p.Ala1355=) | gnomAD v4 |
| 14 | g.23418314G= | CA2123442686 | MYH7 | c.4065C= (p.Ala1355=) | |
| 14 | g.23418314G>T | CA485618506 | MYH7 | c.4065C>A (p.Ala1355=) | |
| 14 | g.23418315G>A | CA389041051 | MYH7 | c.4064C>T (p.Ala1355Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23418315G>C | CA389041050 | MYH7 | c.4064C>G (p.Ala1355Gly) | |
| 14 | g.23418315G= | CA2123442689 | MYH7 | c.4064C= (p.Ala1355=) | |
| 14 | g.23418315G>T | CA389041048 | MYH7 | c.4064C>A (p.Ala1355Asp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418316C>A | CA389041053 | MYH7 | c.4063G>T (p.Ala1355Ser) | |
| 14 | g.23418316C= | CA2123442699 | MYH7 | c.4063G= (p.Ala1355=) | |
| 14 | g.23418316C>G | CA389041054 | MYH7 | c.4063G>C (p.Ala1355Pro) | |
| 14 | g.23418316C>T | CA040248 | MYH7 | c.4063G>A (p.Ala1355Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23418317C>A | CA389041055 | MYH7 | c.4062G>T (p.Lys1354Asn) | |
| 14 | g.23418317C>G | CA389041056 | MYH7 | c.4062G>C (p.Lys1354Asn) | |
| 14 | g.23418317C>T | CA485618517 | MYH7 | c.4062G>A (p.Lys1354=) | |
| 14 | g.23418318T>A | CA389041058 | MYH7 | c.4061A>T (p.Lys1354Met) | |
| 14 | g.23418318T>C | CA040229 | MYH7 | c.4061A>G (p.Lys1354Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23418318T>G | CA389041061 | MYH7 | c.4061A>C (p.Lys1354Thr) | |
| 14 | g.23418318T= | CA2123442712 | MYH7 | c.4061A= (p.Lys1354=) | |
| 14 | g.23418319del | CA2729049585 | MYH7 | c.4061del (p.Lys1354ArgfsTer?) | dbSNP |
| 14 | g.23418319T>A | CA389041063 | MYH7 | c.4060A>T (p.Lys1354Ter) | |
| 14 | g.23418319T>C | CA389041064 | MYH7 | c.4060A>G (p.Lys1354Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23418319T>G | CA389041067 | MYH7 | c.4060A>C (p.Lys1354Gln) | |
| 14 | g.23418319T= | CA2123442718 | MYH7 | c.4060A= (p.Lys1354=) | |
| 14 | g.23418320G>A | CA485618530 | MYH7 | c.4059C>T (p.Ala1353=) | |
| 14 | g.23418320G>C | CA485618525 | MYH7 | c.4059C>G (p.Ala1353=) | |
| 14 | g.23418320G>T | CA485618527 | MYH7 | c.4059C>A (p.Ala1353=) | |
| 14 | g.23418321G>A | CA257813833 | MYH7 | c.4058C>T (p.Ala1353Val) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418321G>C | CA389041070 | MYH7 | c.4058C>G (p.Ala1353Gly) | |
| 14 | g.23418321G= | CA2123442724 | MYH7 | c.4058C= (p.Ala1353=) | |
| 14 | g.23418321G>T | CA389041069 | MYH7 | c.4058C>A (p.Ala1353Asp) | COSMIC |
| 14 | g.23418322C>A | CA389041072 | MYH7 | c.4057G>T (p.Ala1353Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23418322C= | CA2123442727 | MYH7 | c.4057G= (p.Ala1353=) | |
| 14 | g.23418322C>G | CA389041075 | MYH7 | c.4057G>C (p.Ala1353Pro) | |
| 14 | g.23418322C>T | CA389041074 | MYH7 | c.4057G>A (p.Ala1353Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418322_23418323insATGA | CA2800863453 | MYH7 | c.4056_4057insTCAT (p.Ala1353SerfsTer25) | |
| 14 | g.23418323C>A | CA389041077 | MYH7 | c.4056G>T (p.Glu1352Asp) | |
| 14 | g.23418323C>G | CA389041078 | MYH7 | c.4056G>C (p.Glu1352Asp) | |
| 14 | g.23418323C>T | CA485618542 | MYH7 | c.4056G>A (p.Glu1352=) | ClinVar gnomAD v4 |
| 14 | g.23418324T>A | CA389041079 | MYH7 | c.4055A>T (p.Glu1352Val) | |
| 14 | g.23418324T>C | CA389041081 | MYH7 | c.4055A>G (p.Glu1352Gly) | |
| 14 | g.23418324T>G | CA389041082 | MYH7 | c.4055A>C (p.Glu1352Ala) | |
| 14 | g.23418325C>A | CA389041084 | MYH7 | c.4054G>T (p.Glu1352Ter) | |
| 14 | g.23418325C>G | CA389041086 | MYH7 | c.4054G>C (p.Glu1352Gln) | gnomAD v4 |
| 14 | g.23418325C>T | CA389041089 | MYH7 | c.4054G>A (p.Glu1352Lys) | |
| 14 | g.23418326C>A | CA485618554 | MYH7 | c.4053G>T (p.Thr1351=) | dbSNP gnomAD v2 |
| 14 | g.23418326C= | CA2123442734 | MYH7 | c.4053G= (p.Thr1351=) | |
| 14 | g.23418326C>G | CA485618551 | MYH7 | c.4053G>C (p.Thr1351=) | gnomAD v4 |
| 14 | g.23418326C>T | CA014397 | MYH7 | c.4053G>A (p.Thr1351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418327G>A | CA014388 | MYH7 | c.4052C>T (p.Thr1351Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23418327G>C | CA389041092 | MYH7 | c.4052C>G (p.Thr1351Arg) | |
| 14 | g.23418327G= | CA2123442744 | MYH7 | c.4052C= (p.Thr1351=) | |
| 14 | g.23418327G>T | CA389041094 | MYH7 | c.4052C>A (p.Thr1351Lys) | |
| 14 | g.23418328T>A | CA389041096 | MYH7 | c.4051A>T (p.Thr1351Ser) | |
| 14 | g.23418328T>C | CA389041097 | MYH7 | c.4051A>G (p.Thr1351Ala) | |
| 14 | g.23418328T>G | CA389041099 | MYH7 | c.4051A>C (p.Thr1351Pro) | |
| 14 | g.23418328_23418331delinsTCTC | CA2123442750 | MYH7 | c.4048_4051delinsGAGA (p.Glu1350=) | |
| 14 | g.23418329C>A | CA389041100 | MYH7 | c.4050G>T (p.Glu1350Asp) | |
| 14 | g.23418329C= | CA2123442756 | MYH7 | c.4050G= (p.Glu1350=) | |
| 14 | g.23418329C>G | CA389041102 | MYH7 | c.4050G>C (p.Glu1350Asp) | |
| 14 | g.23418329C>T | CA485618561 | MYH7 | c.4050G>A (p.Glu1350=) | dbSNP |
| 14 | g.23418335_23418337del | CA913184874 | MYH7 | c.4048_4050del (p.Glu1350del) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23418330T>A | CA389041104 | MYH7 | c.4049A>T (p.Glu1350Val) | |
| 14 | g.23418330T>C | CA389041105 | MYH7 | c.4049A>G (p.Glu1350Gly) | ClinVar |
| 14 | g.23418330T>G | CA389041106 | MYH7 | c.4049A>C (p.Glu1350Ala) | |
| 14 | g.23418330_23418340del | CA2800863455 | MYH7 | c.4039_4049del (p.Tyr1347AspfsTer26) | |
| 14 | g.23418331C>A | CA389041108 | MYH7 | c.4048G>T (p.Glu1350Ter) | |
| 14 | g.23418331C= | CA2123442760 | MYH7 | c.4048G= (p.Glu1350=) | |
| 14 | g.23418331C>G | CA389041110 | MYH7 | c.4048G>C (p.Glu1350Gln) | |
| 14 | g.23418331C>T | CA389041112 | MYH7 | c.4048G>A (p.Glu1350Lys) | ClinVar dbSNP COSMIC |
| 14 | g.23418332C>A | CA389041113 | MYH7 | c.4047G>T (p.Glu1349Asp) | |
| 14 | g.23418332C= | CA2123442764 | MYH7 | c.4047G= (p.Glu1349=) | |
| 14 | g.23418332C>G | CA389041114 | MYH7 | c.4047G>C (p.Glu1349Asp) | |
| 14 | g.23418332C>T | CA485618573 | MYH7 | c.4047G>A (p.Glu1349=) | dbSNP |
| 14 | g.23418333T>A | CA389041116 | MYH7 | c.4046A>T (p.Glu1349Val) | |
| 14 | g.23418333T>C | CA389041118 | MYH7 | c.4046A>G (p.Glu1349Gly) | ClinVar |
| 14 | g.23418333T>G | CA389041119 | MYH7 | c.4046A>C (p.Glu1349Ala) | |
| 14 | g.23418334C>A | CA389041123 | MYH7 | c.4045G>T (p.Glu1349Ter) | gnomAD v4 |
| 14 | g.23418334C= | CA2123442770 | MYH7 | c.4045G= (p.Glu1349=) | |
| 14 | g.23418334C>G | CA389041122 | MYH7 | c.4045G>C (p.Glu1349Gln) | |
| 14 | g.23418334C>T | CA389041121 | MYH7 | c.4045G>A (p.Glu1349Lys) | ClinVar dbSNP |
| 14 | g.23418335C>A | CA389041125 | MYH7 | c.4044G>T (p.Glu1348Asp) | |
| 14 | g.23418335C= | CA2123442773 | MYH7 | c.4044G= (p.Glu1348=) | |
| 14 | g.23418335C>G | CA389041127 | MYH7 | c.4044G>C (p.Glu1348Asp) | |
| 14 | g.23418335C>T | CA485618584 | MYH7 | c.4044G>A (p.Glu1348=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |