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.23417518C>A | CA389040039 | MHRT,MYH7 | c.4338G>T (p.Gln1446His) n.814-15C>A | |
| 14 | g.23417518C>G | CA389040041 | MHRT,MYH7 | c.4338G>C (p.Gln1446His) n.814-15C>G | |
| 14 | g.23417518C>T | CA485617738 | MHRT,MYH7 | c.4338G>A (p.Gln1446=) n.814-15C>T | |
| 14 | g.23417519T>A | CA389040043 | MHRT,MYH7 | c.4337A>T (p.Gln1446Leu) n.814-14T>A | |
| 14 | g.23417519T>C | CA389040044 | MHRT,MYH7 | c.4337A>G (p.Gln1446Arg) n.814-14T>C | |
| 14 | g.23417519T>G | CA389040045 | MHRT,MYH7 | c.4337A>C (p.Gln1446Pro) n.814-14T>G | |
| 14 | g.23417520G>A | CA389040051 | MHRT,MYH7 | c.4336C>T (p.Gln1446Ter) n.814-13G>A | |
| 14 | g.23417520G>C | CA389040047 | MHRT,MYH7 | c.4336C>G (p.Gln1446Glu) n.814-13G>C | |
| 14 | g.23417520G>T | CA389040049 | MHRT,MYH7 | c.4336C>A (p.Gln1446Lys) n.814-13G>T | |
| 14 | g.23417521C>A | CA389040052 | MHRT,MYH7 | c.4335G>T (p.Lys1445Asn) n.814-12C>A | |
| 14 | g.23417521C= | CA2123469279 | MHRT,MYH7 | c.4335G= (p.Lys1445=) n.814-12C= | |
| 14 | g.23417521C>G | CA389040054 | MHRT,MYH7 | c.4335G>C (p.Lys1445Asn) n.814-12C>G | |
| 14 | g.23417521C>T | CA485617742 | MHRT,MYH7 | c.4335G>A (p.Lys1445=) n.814-12C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417524_23417526del | CA2580616569 | MHRT,MYH7 | c.4333_4335del (p.Lys1445del) n.814-9_814-7del | ClinVar |
| 14 | g.23417522T>A | CA389040056 | MHRT,MYH7 | c.4334A>T (p.Lys1445Met) n.814-11T>A | |
| 14 | g.23417522T>C | CA389040058 | MHRT,MYH7 | c.4334A>G (p.Lys1445Arg) n.814-11T>C | |
| 14 | g.23417522T>G | CA389040059 | MHRT,MYH7 | c.4334A>C (p.Lys1445Thr) n.814-11T>G | |
| 14 | g.23417523T>A | CA389040061 | MHRT,MYH7 | c.4333A>T (p.Lys1445Ter) n.814-10T>A | |
| 14 | g.23417523T>C | CA389040063 | MHRT,MYH7 | c.4333A>G (p.Lys1445Glu) n.814-10T>C | |
| 14 | g.23417523T>G | CA389040064 | MHRT,MYH7 | c.4333A>C (p.Lys1445Gln) n.814-10T>G | |
| 14 | g.23417524C>A | CA389040065 | MHRT,MYH7 | c.4332G>T (p.Lys1444Asn) n.814-9C>A | |
| 14 | g.23417524C= | CA2123469288 | MHRT,MYH7 | c.4332G= (p.Lys1444=) n.814-9C= | |
| 14 | g.23417524C>G | CA389040066 | MHRT,MYH7 | c.4332G>C (p.Lys1444Asn) n.814-9C>G | |
| 14 | g.23417524C>T | CA16621654 | MHRT,MYH7 | c.4332G>A (p.Lys1444=) n.814-9C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417525T>A | CA389040070 | MHRT,MYH7 | c.4331A>T (p.Lys1444Met) n.814-8T>A | |
| 14 | g.23417525T>C | CA389040071 | MHRT,MYH7 | c.4331A>G (p.Lys1444Arg) n.814-8T>C | |
| 14 | g.23417525T>G | CA389040068 | MHRT,MYH7 | c.4331A>C (p.Lys1444Thr) n.814-8T>G | |
| 14 | g.23417526T>A | CA389040073 | MHRT,MYH7 | c.4330A>T (p.Lys1444Ter) n.814-7T>A | |
| 14 | g.23417526T>C | CA014823 | MHRT,MYH7 | c.4330A>G (p.Lys1444Glu) n.814-7T>C | ClinVar dbSNP |
| 14 | g.23417526T>G | CA389040074 | MHRT,MYH7 | c.4330A>C (p.Lys1444Gln) n.814-7T>G | |
| 14 | g.23417526T= | CA2123469308 | MHRT,MYH7 | c.4330A= (p.Lys1444=) n.814-7T= | |
| 14 | g.23417527G>A | CA485617746 | MHRT,MYH7 | c.4329C>T (p.Asp1443=) n.814-6G>A | |
| 14 | g.23417527G>C | CA389040076 | MHRT,MYH7 | c.4329C>G (p.Asp1443Glu) n.814-6G>C | gnomAD v4 |
| 14 | g.23417527G>T | CA389040078 | MHRT,MYH7 | c.4329C>A (p.Asp1443Glu) n.814-6G>T | gnomAD v4 |
| 14 | g.23417528T>A | CA389040080 | MHRT,MYH7 | c.4328A>T (p.Asp1443Val) n.814-5T>A | |
| 14 | g.23417528T>C | CA389040081 | MHRT,MYH7 | c.4328A>G (p.Asp1443Gly) n.814-5T>C | |
| 14 | g.23417528T>G | CA389040083 | MHRT,MYH7 | c.4328A>C (p.Asp1443Ala) n.814-5T>G | |
| 14 | g.23417529C>A | CA389040084 | MHRT,MYH7 | c.4327G>T (p.Asp1443Tyr) n.814-4C>A | |
| 14 | g.23417529C>G | CA389040086 | MHRT,MYH7 | c.4327G>C (p.Asp1443His) n.814-4C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417529C>T | CA389040087 | MHRT,MYH7 | c.4327G>A (p.Asp1443Asn) n.814-4C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417530C>A | CA485617750 | MHRT,MYH7 | c.4326G>T (p.Leu1442=) n.814-3C>A | |
| 14 | g.23417530C= | CA2123469319 | MHRT,MYH7 | c.4326G= (p.Leu1442=) n.814-3C= | |
| 14 | g.23417530C>G | CA485617751 | MHRT,MYH7 | c.4326G>C (p.Leu1442=) n.814-3C>G | ClinVar |
| 14 | g.23417530C>T | CA014816 | MHRT,MYH7 | c.4326G>A (p.Leu1442=) n.814-3C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417531A>C | CA389040093 | MHRT,MYH7 | c.4325T>G (p.Leu1442Arg) n.814-2A>C | |
| 14 | g.23417531A>G | CA389040090 | MHRT,MYH7 | c.4325T>C (p.Leu1442Pro) n.814-2A>G | ClinVar dbSNP |
| 14 | g.23417531A>T | CA389040092 | MHRT,MYH7 | c.4325T>A (p.Leu1442Gln) n.814-2A>T | |
| 14 | g.23417532G>A | CA485617755 | MHRT,MYH7 | c.4324C>T (p.Leu1442=) n.814-1G>A | |
| 14 | g.23417532G>C | CA389040095 | MHRT,MYH7 | c.4324C>G (p.Leu1442Val) n.814-1G>C | |
| 14 | g.23417532G>T | CA389040097 | MHRT,MYH7 | c.4324C>A (p.Leu1442Met) n.814-1G>T | |
| 14 | g.23417532_23417534dup | CA2580088005 | MHRT,MYH7 | c.4322_4324dup (p.Ala1441_Leu1442insPro) n.814-1_815dup | ClinVar dbSNP |
| 14 | g.23417533G>A | CA041640 | MHRT,MYH7 | c.4323C>T (p.Ala1441=) n.814G>A | dbSNP ExAC |
| 14 | g.23417533G>C | CA485617756 | MHRT,MYH7 | c.4323C>G (p.Ala1441=) n.814G>C | |
| 14 | g.23417533G= | CA2123469326 | MHRT,MYH7 | c.4323C= (p.Ala1441=) n.814G= | |
| 14 | g.23417533G>T | CA485617757 | MHRT,MYH7 | c.4323C>A (p.Ala1441=) n.814G>T | ClinVar dbSNP |
| 14 | g.23417534G>A | CA389040098 | MHRT,MYH7 | c.4322C>T (p.Ala1441Val) n.815G>A | gnomAD v4 |
| 14 | g.23417534G>C | CA389040099 | MHRT,MYH7 | c.4322C>G (p.Ala1441Gly) n.815G>C | |
| 14 | g.23417534G>T | CA389040101 | MHRT,MYH7 | c.4322C>A (p.Ala1441Asp) n.815G>T | |
| 14 | g.23417535C>A | CA014807 | MHRT,MYH7 | c.4321G>T (p.Ala1441Ser) n.816C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417535C= | CA2123469336 | MHRT,MYH7 | c.4321G= (p.Ala1441=) n.816C= | |
| 14 | g.23417535C>G | CA389040103 | MHRT,MYH7 | c.4321G>C (p.Ala1441Pro) n.816C>G | |
| 14 | g.23417535C>T | CA389040105 | MHRT,MYH7 | c.4321G>A (p.Ala1441Thr) n.816C>T | gnomAD v4 |
| 14 | g.23417536T>A | CA485617759 | MHRT,MYH7 | c.4320A>T (p.Ala1440=) n.817T>A | |
| 14 | g.23417536T>C | CA041618 | MHRT,MYH7 | c.4320A>G (p.Ala1440=) n.817T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23417536T>G | CA485617762 | MHRT,MYH7 | c.4320A>C (p.Ala1440=) n.817T>G | ClinVar dbSNP |
| 14 | g.23417536T= | CA2123469339 | MHRT,MYH7 | c.4320A= (p.Ala1440=) n.817T= | |
| 14 | g.23417537G>A | CA389040107 | MHRT,MYH7 | c.4319C>T (p.Ala1440Val) n.818G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417537G>C | CA389040109 | MHRT,MYH7 | c.4319C>G (p.Ala1440Gly) n.818G>C | |
| 14 | g.23417537G= | CA2123469345 | MHRT,MYH7 | c.4319C= (p.Ala1440=) n.818G= | |
| 14 | g.23417537G>T | CA389040110 | MHRT,MYH7 | c.4319C>A (p.Ala1440Glu) n.818G>T | COSMIC |
| 14 | g.23417546_23417548dup | CA916081707 | MHRT,MYH7 | c.4317_4319dup (p.Ala1440_Ala1441insAla) n.827_829dup | ClinVar dbSNP |
| 14 | g.23417538C>A | CA389040114 | MHRT,MYH7 | c.4318G>T (p.Ala1440Ser) n.819C>A | |
| 14 | g.23417538C>G | CA389040115 | MHRT,MYH7 | c.4318G>C (p.Ala1440Pro) n.819C>G | |
| 14 | g.23417538C>T | CA389040112 | MHRT,MYH7 | c.4318G>A (p.Ala1440Thr) n.819C>T | |
| 14 | g.23417539A= | CA2123469351 | MHRT,MYH7 | c.4317T= (p.Ala1439=) n.820A= | |
| 14 | g.23417539A>C | CA485617764 | MHRT,MYH7 | c.4317T>G (p.Ala1439=) n.820A>C | |
| 14 | g.23417539A>G | CA485617765 | MHRT,MYH7 | c.4317T>C (p.Ala1439=) n.820A>G | ClinVar dbSNP |
| 14 | g.23417539A>T | CA485617766 | MHRT,MYH7 | c.4317T>A (p.Ala1439=) n.820A>T | gnomAD v4 COSMIC |
| 14 | g.23417540G>A | CA389040120 | MHRT,MYH7 | c.4316C>T (p.Ala1439Val) n.821G>A | |
| 14 | g.23417540G>C | CA389040117 | MHRT,MYH7 | c.4316C>G (p.Ala1439Gly) n.821G>C | |
| 14 | g.23417540G>T | CA389040118 | MHRT,MYH7 | c.4316C>A (p.Ala1439Asp) n.821G>T | |
| 14 | g.23417541C>A | CA389040123 | MHRT,MYH7 | c.4315G>T (p.Ala1439Ser) n.822C>A | |
| 14 | g.23417541C= | CA2123469356 | MHRT,MYH7 | c.4315G= (p.Ala1439=) n.822C= | |
| 14 | g.23417541C>G | CA347256 | MHRT,MYH7 | c.4315G>C (p.Ala1439Pro) n.822C>G | dbSNP |
| 14 | g.23417541C>T | CA389040124 | MHRT,MYH7 | c.4315G>A (p.Ala1439Thr) n.822C>T | |
| 14 | g.23417542A= | CA2123469362 | MHRT,MYH7 | c.4314T= (p.Ala1438=) n.823A= | |
| 14 | g.23417542A>C | CA485617768 | MHRT,MYH7 | c.4314T>G (p.Ala1438=) n.823A>C | |
| 14 | g.23417542A>G | CA485617770 | MHRT,MYH7 | c.4314T>C (p.Ala1438=) n.823A>G | ClinVar dbSNP |
| 14 | g.23417542A>T | CA485617772 | MHRT,MYH7 | c.4314T>A (p.Ala1438=) n.823A>T | |
| 14 | g.23417543G>A | CA389040129 | MHRT,MYH7 | c.4313C>T (p.Ala1438Val) n.824G>A | gnomAD v4 |
| 14 | g.23417543G>C | CA389040128 | MHRT,MYH7 | c.4313C>G (p.Ala1438Gly) n.824G>C | |
| 14 | g.23417543G>T | CA389040126 | MHRT,MYH7 | c.4313C>A (p.Ala1438Asp) n.824G>T | |
| 14 | g.23417544C>A | CA389040131 | MHRT,MYH7 | c.4312G>T (p.Ala1438Ser) n.825C>A | |
| 14 | g.23417544C>G | CA389040132 | MHRT,MYH7 | c.4312G>C (p.Ala1438Pro) n.825C>G | ClinVar |
| 14 | g.23417544C>T | CA389040134 | MHRT,MYH7 | c.4312G>A (p.Ala1438Thr) n.825C>T | |
| 14 | g.23417545A= | CA2123469373 | MHRT,MYH7 | c.4311T= (p.Ala1437=) n.826A= | |
| 14 | g.23417545A>C | CA485617774 | MHRT,MYH7 | c.4311T>G (p.Ala1437=) n.826A>C | ClinVar dbSNP |
| 14 | g.23417545A>G | CA485617775 | MHRT,MYH7 | c.4311T>C (p.Ala1437=) n.826A>G | |
| 14 | g.23417545A>T | CA485617777 | MHRT,MYH7 | c.4311T>A (p.Ala1437=) n.826A>T | |
| 14 | g.23417546G>A | CA389040136 | MHRT,MYH7 | c.4310C>T (p.Ala1437Val) n.827G>A | |
| 14 | g.23417546G>C | CA389040138 | MHRT,MYH7 | c.4310C>G (p.Ala1437Gly) n.827G>C | |
| 14 | g.23417546G>T | CA389040139 | MHRT,MYH7 | c.4310C>A (p.Ala1437Asp) n.827G>T | |
| 14 | g.23417547C>A | CA389040140 | MHRT,MYH7 | c.4309G>T (p.Ala1437Ser) n.828C>A | |
| 14 | g.23417547C>G | CA389040144 | MHRT,MYH7 | c.4309G>C (p.Ala1437Pro) n.828C>G | ClinVar |
| 14 | g.23417547C>T | CA389040142 | MHRT,MYH7 | c.4309G>A (p.Ala1437Thr) n.828C>T | |
| 14 | g.23417548A= | CA2123469383 | MHRT,MYH7 | c.4308T= (p.Asn1436=) n.829A= | |
| 14 | g.23417548A>C | CA389040145 | MHRT,MYH7 | c.4308T>G (p.Asn1436Lys) n.829A>C | |
| 14 | g.23417548A>G | CA485617779 | MHRT,MYH7 | c.4308T>C (p.Asn1436=) n.829A>G | ClinVar dbSNP |
| 14 | g.23417548A>T | CA389040147 | MHRT,MYH7 | c.4308T>A (p.Asn1436Lys) n.829A>T | |
| 14 | g.23417549T>A | CA389040149 | MHRT,MYH7 | c.4307A>T (p.Asn1436Ile) n.830T>A | |
| 14 | g.23417549T>C | CA389040150 | MHRT,MYH7 | c.4307A>G (p.Asn1436Ser) n.830T>C | ClinVar dbSNP COSMIC |
| 14 | g.23417549T>G | CA389040152 | MHRT,MYH7 | c.4307A>C (p.Asn1436Thr) n.830T>G | |
| 14 | g.23417549T= | CA2123469393 | MHRT,MYH7 | c.4307A= (p.Asn1436=) n.830T= | |
| 14 | g.23417550T>A | CA389040153 | MHRT,MYH7 | c.4306A>T (p.Asn1436Tyr) n.831T>A | |
| 14 | g.23417550T>C | CA389040154 | MHRT,MYH7 | c.4306A>G (p.Asn1436Asp) n.831T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417550T>G | CA389040156 | MHRT,MYH7 | c.4306A>C (p.Asn1436His) n.831T>G | |
| 14 | g.23417550T= | CA2123469400 | MHRT,MYH7 | c.4306A= (p.Asn1436=) n.831T= | |
| 14 | g.23417551G>A | CA485617785 | MHRT,MYH7 | c.4305C>T (p.Ser1435=) n.832G>A | |
| 14 | g.23417551G>C | CA485617784 | MHRT,MYH7 | c.4305C>G (p.Ser1435=) n.832G>C | |
| 14 | g.23417551G>T | CA485617783 | MHRT,MYH7 | c.4305C>A (p.Ser1435=) n.832G>T | |
| 14 | g.23417552G>A | CA389040158 | MHRT,MYH7 | c.4304C>T (p.Ser1435Phe) n.833G>A | gnomAD v4 |
| 14 | g.23417552G>C | CA389040160 | MHRT,MYH7 | c.4304C>G (p.Ser1435Cys) n.833G>C | |
| 14 | g.23417552G>T | CA389040161 | MHRT,MYH7 | c.4304C>A (p.Ser1435Tyr) n.833G>T | |
| 14 | g.23417553A>C | CA389040166 | MHRT,MYH7 | c.4303T>G (p.Ser1435Ala) n.834A>C | |
| 14 | g.23417553A>G | CA389040164 | MHRT,MYH7 | c.4303T>C (p.Ser1435Pro) n.834A>G | |
| 14 | g.23417553A>T | CA389040163 | MHRT,MYH7 | c.4303T>A (p.Ser1435Thr) n.834A>T | |
| 14 | g.23417554G>A | CA257813213 | MHRT,MYH7 | c.4302C>T (p.Arg1434=) n.835G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417554G>C | CA485617788 | MHRT,MYH7 | c.4302C>G (p.Arg1434=) n.835G>C | |
| 14 | g.23417554G= | CA2123469408 | MHRT,MYH7 | c.4302C= (p.Arg1434=) n.835G= | |
| 14 | g.23417554G>T | CA485617786 | MHRT,MYH7 | c.4302C>A (p.Arg1434=) n.835G>T | |
| 14 | g.23417555C>A | CA389040168 | MHRT,MYH7 | c.4301G>T (p.Arg1434Leu) n.836C>A | ClinVar |
| 14 | g.23417555C= | CA2123469423 | MHRT,MYH7 | c.4301G= (p.Arg1434=) n.836C= | |
| 14 | g.23417555C>G | CA389040170 | MHRT,MYH7 | c.4301G>C (p.Arg1434Pro) n.836C>G | ClinVar dbSNP |
| 14 | g.23417555C>T | CA041602 | MHRT,MYH7 | c.4301G>A (p.Arg1434His) n.836C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417556G>A | CA014792 | MHRT,MYH7 | c.4300C>T (p.Arg1434Cys) n.837G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23417556G>C | CA389040172 | MHRT,MYH7 | c.4300C>G (p.Arg1434Gly) n.837G>C | ClinVar dbSNP |
| 14 | g.23417556G= | CA2123469443 | MHRT,MYH7 | c.4300C= (p.Arg1434=) n.837G= | |
| 14 | g.23417556G>T | CA389040173 | MHRT,MYH7 | c.4300C>A (p.Arg1434Ser) n.837G>T | |
| 14 | g.23417557C>A | CA389040175 | MHRT,MYH7 | c.4299G>T (p.Glu1433Asp) n.838C>A | |
| 14 | g.23417557C>G | CA389040177 | MHRT,MYH7 | c.4299G>C (p.Glu1433Asp) n.838C>G | |
| 14 | g.23417557C>T | CA485617789 | MHRT,MYH7 | c.4299G>A (p.Glu1433=) n.838C>T | |
| 14 | g.23417558T>A | CA389040178 | MHRT,MYH7 | c.4298A>T (p.Glu1433Val) n.839T>A | |
| 14 | g.23417558T>C | CA389040180 | MHRT,MYH7 | c.4298A>G (p.Glu1433Gly) n.839T>C | |
| 14 | g.23417558T>G | CA389040181 | MHRT,MYH7 | c.4298A>C (p.Glu1433Ala) n.839T>G | |
| 14 | g.23417559C>A | CA389040183 | MHRT,MYH7 | c.4297G>T (p.Glu1433Ter) n.840C>A | |
| 14 | g.23417559C>G | CA389040185 | MHRT,MYH7 | c.4297G>C (p.Glu1433Gln) n.840C>G | gnomAD v4 |
| 14 | g.23417559C>T | CA389040186 | MHRT,MYH7 | c.4297G>A (p.Glu1433Lys) n.840C>T | COSMIC |
| 14 | g.23417560T>A | CA485617792 | MHRT,MYH7 | c.4296A>T (p.Val1432=) n.841T>A | |
| 14 | g.23417560T>C | CA485617793 | MHRT,MYH7 | c.4296A>G (p.Val1432=) n.841T>C | dbSNP |
| 14 | g.23417560T>G | CA485617794 | MHRT,MYH7 | c.4296A>C (p.Val1432=) n.841T>G | dbSNP |
| 14 | g.23417560T= | CA2123469451 | MHRT,MYH7 | c.4296A= (p.Val1432=) n.841T= | |
| 14 | g.23417561A>C | CA389040192 | MHRT,MYH7 | c.4295T>G (p.Val1432Gly) n.842A>C | |
| 14 | g.23417561A>G | CA389040190 | MHRT,MYH7 | c.4295T>C (p.Val1432Ala) n.842A>G | |
| 14 | g.23417561A>T | CA389040188 | MHRT,MYH7 | c.4295T>A (p.Val1432Glu) n.842A>T | |
| 14 | g.23417562C>A | CA389040194 | MHRT,MYH7 | c.4294G>T (p.Val1432Leu) n.843C>A | |
| 14 | g.23417562C= | CA2123469456 | MHRT,MYH7 | c.4294G= (p.Val1432=) n.843C= | |
| 14 | g.23417562C>G | CA389040196 | MHRT,MYH7 | c.4294G>C (p.Val1432Leu) n.843C>G | dbSNP |
| 14 | g.23417562C>T | CA041577 | MHRT,MYH7 | c.4294G>A (p.Val1432Ile) n.843C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417563G>A | CA014782 | MHRT,MYH7 | c.4293C>T (p.Asp1431=) n.844G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417563G>C | CA389040198 | MHRT,MYH7 | c.4293C>G (p.Asp1431Glu) n.844G>C | |
| 14 | g.23417563G= | CA2123469465 | MHRT,MYH7 | c.4293C= (p.Asp1431=) n.844G= | |
| 14 | g.23417563G>T | CA389040199 | MHRT,MYH7 | c.4293C>A (p.Asp1431Glu) n.844G>T | dbSNP gnomAD v4 |
| 14 | g.23417564T>A | CA389040201 | MHRT,MYH7 | c.4292A>T (p.Asp1431Val) n.845T>A | |
| 14 | g.23417564T>C | CA041540 | MHRT,MYH7 | c.4292A>G (p.Asp1431Gly) n.845T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23417564T>G | CA389040204 | MHRT,MYH7 | c.4292A>C (p.Asp1431Ala) n.845T>G | |
| 14 | g.23417564T= | CA2123469480 | MHRT,MYH7 | c.4292A= (p.Asp1431=) n.845T= | |
| 14 | g.23417564_23417567delinsTCCA | CA2123469477 | MHRT,MYH7 | c.4289_4292delinsTGGA (p.Val1430=) n.845_848delinsTCCA | |
| 14 | g.23417565C>A | CA389040206 | MHRT,MYH7 | c.4291G>T (p.Asp1431Tyr) n.846C>A | gnomAD v4 |
| 14 | g.23417565C>G | CA389040207 | MHRT,MYH7 | c.4291G>C (p.Asp1431His) n.846C>G | |
| 14 | g.23417565C>T | CA389040208 | MHRT,MYH7 | c.4291G>A (p.Asp1431Asn) n.846C>T | |
| 14 | g.23417568_23417570del | CA658798184 | MHRT,MYH7 | c.4289_4291del (p.Val1430del) n.849_851del | ClinVar dbSNP |
| 14 | g.23417566C>A | CA041527 | MHRT,MYH7 | c.4290G>T (p.Val1430=) n.847C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417566C= | CA2123469491 | MHRT,MYH7 | c.4290G= (p.Val1430=) n.847C= | |
| 14 | g.23417566C>G | CA485617799 | MHRT,MYH7 | c.4290G>C (p.Val1430=) n.847C>G | |
| 14 | g.23417566C>T | CA485617800 | MHRT,MYH7 | c.4290G>A (p.Val1430=) n.847C>T | |
| 14 | g.23417567A>C | CA389040210 | MHRT,MYH7 | c.4289T>G (p.Val1430Gly) n.848A>C | |
| 14 | g.23417567A>G | CA389040212 | MHRT,MYH7 | c.4289T>C (p.Val1430Ala) n.848A>G | |
| 14 | g.23417567A>T | CA389040209 | MHRT,MYH7 | c.4289T>A (p.Val1430Glu) n.848A>T | |
| 14 | g.23417568C>A | CA389040213 | MHRT,MYH7 | c.4288G>T (p.Val1430Leu) n.849C>A | ClinVar |
| 14 | g.23417568C>G | CA389040216 | MHRT,MYH7 | c.4288G>C (p.Val1430Leu) n.849C>G | gnomAD v4 |
| 14 | g.23417568C>T | CA389040214 | MHRT,MYH7 | c.4288G>A (p.Val1430Met) n.849C>T | gnomAD v4 |
| 14 | g.23417568_23417571delinsCCAT | CA2123469498 | MHRT,MYH7 | c.4285_4288delinsATGG (p.Met1429=) n.849_852delinsCCAT | |
| 14 | g.23417569C>A | CA389040218 | MHRT,MYH7 | c.4287G>T (p.Met1429Ile) n.850C>A | |
| 14 | g.23417569C= | CA2123469518 | MHRT,MYH7 | c.4287G= (p.Met1429=) n.850C= | |
| 14 | g.23417569C>G | CA389040221 | MHRT,MYH7 | c.4287G>C (p.Met1429Ile) n.850C>G | |
| 14 | g.23417569C>T | CA389040220 | MHRT,MYH7 | c.4287G>A (p.Met1429Ile) n.850C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23417571_23417573dup | CA1139663374 | MHRT,MYH7 | c.4285_4287dup (p.Met1429_Val1430insMet) n.852_854dup | ClinVar dbSNP |
| 14 | g.23417571_23417573del | CA1139663373 | MHRT,MYH7 | c.4285_4287del (p.Met1429del) n.852_854del | ClinVar dbSNP |
| 14 | g.23417570A= | CA2123469529 | MHRT,MYH7 | c.4286T= (p.Met1429=) n.851A= | |
| 14 | g.23417570A>C | CA389040223 | MHRT,MYH7 | c.4286T>G (p.Met1429Arg) n.851A>C | |
| 14 | g.23417570A>G | CA041505 | MHRT,MYH7 | c.4286T>C (p.Met1429Thr) n.851A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23417570A>T | CA389040225 | MHRT,MYH7 | c.4286T>A (p.Met1429Lys) n.851A>T | |
| 14 | g.23417571T>A | CA389040227 | MHRT,MYH7 | c.4285A>T (p.Met1429Leu) n.852T>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417571T>C | CA389040228 | MHRT,MYH7 | c.4285A>G (p.Met1429Val) n.852T>C | gnomAD v4 |
| 14 | g.23417571T>G | CA389040230 | MHRT,MYH7 | c.4285A>C (p.Met1429Leu) n.852T>G | |
| 14 | g.23417571T= | CA2123469544 | MHRT,MYH7 | c.4285A= (p.Met1429=) n.852T= | |
| 14 | g.23417572C>A | CA389040231 | MHRT,MYH7 | c.4284G>T (p.Leu1428Phe) n.853C>A | |
| 14 | g.23417572C= | CA2123469548 | MHRT,MYH7 | c.4284G= (p.Leu1428=) n.853C= | |
| 14 | g.23417572C>G | CA389040233 | MHRT,MYH7 | c.4284G>C (p.Leu1428Phe) n.853C>G | dbSNP |
| 14 | g.23417572C>T | CA485617805 | MHRT,MYH7 | c.4284G>A (p.Leu1428=) n.853C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23417573A= | CA2123469558 | MHRT,MYH7 | c.4283T= (p.Leu1428=) n.854A= | |
| 14 | g.23417573A>C | CA389040234 | MHRT,MYH7 | c.4283T>G (p.Leu1428Trp) n.854A>C | |
| 14 | g.23417573A>G | CA014765 | MHRT,MYH7 | c.4283T>C (p.Leu1428Ser) n.854A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417573A>T | CA389040236 | MHRT,MYH7 | c.4283T>A (p.Leu1428Ter) n.854A>T | |
| 14 | g.23417574A= | CA2123469567 | MHRT,MYH7 | c.4282T= (p.Leu1428=) n.855A= | |
| 14 | g.23417574A>C | CA389040238 | MHRT,MYH7 | c.4282T>G (p.Leu1428Val) n.855A>C | |
| 14 | g.23417574A>G | CA485617806 | MHRT,MYH7 | c.4282T>C (p.Leu1428=) n.855A>G | dbSNP |
| 14 | g.23417574A>T | CA389040239 | MHRT,MYH7 | c.4282T>A (p.Leu1428Met) n.855A>T | |
| 14 | g.23417575G>A | CA485617808 | MHRT,MYH7 | c.4281C>T (p.Asp1427=) n.856G>A | |
| 14 | g.23417575G>C | CA389040241 | MHRT,MYH7 | c.4281C>G (p.Asp1427Glu) n.856G>C | |
| 14 | g.23417575G>T | CA389040243 | MHRT,MYH7 | c.4281C>A (p.Asp1427Glu) n.856G>T | gnomAD v4 |
| 14 | g.23417576T>A | CA014757 | MHRT,MYH7 | c.4280A>T (p.Asp1427Val) n.857T>A | dbSNP |
| 14 | g.23417576T>C | CA389040247 | MHRT,MYH7 | c.4280A>G (p.Asp1427Gly) n.857T>C | |
| 14 | g.23417576T>G | CA389040245 | MHRT,MYH7 | c.4280A>C (p.Asp1427Ala) n.857T>G | |
| 14 | g.23417576T= | CA2123469571 | MHRT,MYH7 | c.4280A= (p.Asp1427=) n.857T= | |
| 14 | g.23417577C>A | CA389040248 | MHRT,MYH7 | c.4279G>T (p.Asp1427Tyr) n.858C>A | ClinVar |
| 14 | g.23417577C>G | CA389040249 | MHRT,MYH7 | c.4279G>C (p.Asp1427His) n.858C>G | |
| 14 | g.23417577C>T | CA389040251 | MHRT,MYH7 | c.4279G>A (p.Asp1427Asn) n.858C>T | ClinVar |
| 14 | g.23417578C>A | CA389040252 | MHRT,MYH7 | c.4278G>T (p.Glu1426Asp) n.859C>A | |
| 14 | g.23417578C= | CA2123469577 | MHRT,MYH7 | c.4278G= (p.Glu1426=) n.859C= | |
| 14 | g.23417578C>G | CA389040254 | MHRT,MYH7 | c.4278G>C (p.Glu1426Asp) n.859C>G | |
| 14 | g.23417578C>T | CA041463 | MHRT,MYH7 | c.4278G>A (p.Glu1426=) n.859C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23417579T>A | CA389040256 | MHRT,MYH7 | c.4277A>T (p.Glu1426Val) n.860T>A | |
| 14 | g.23417579T>C | CA389040257 | MHRT,MYH7 | c.4277A>G (p.Glu1426Gly) n.860T>C | |
| 14 | g.23417579T>G | CA389040259 | MHRT,MYH7 | c.4277A>C (p.Glu1426Ala) n.860T>G | |
| 14 | g.23417580C>A | CA389040261 | MHRT,MYH7 | c.4276G>T (p.Glu1426Ter) n.861C>A | gnomAD v4 |
| 14 | g.23417580C= | CA2123469586 | MHRT,MYH7 | c.4276G= (p.Glu1426=) n.861C= | |
| 14 | g.23417580C>G | CA389040263 | MHRT,MYH7 | c.4276G>C (p.Glu1426Gln) n.861C>G | |
| 14 | g.23417580C>T | CA014743 | MHRT,MYH7 | c.4276G>A (p.Glu1426Lys) n.861C>T | ClinVar dbSNP COSMIC |
| 14 | g.23417581G>A | CA041447 | MHRT,MYH7 | c.4275C>T (p.Ile1425=) n.862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417581G>C | CA389040265 | MHRT,MYH7 | c.4275C>G (p.Ile1425Met) n.862G>C | |
| 14 | g.23417581G= | CA2123469597 | MHRT,MYH7 | c.4275C= (p.Ile1425=) n.862G= | |
| 14 | g.23417581G>T | CA041432 | MHRT,MYH7 | c.4275C>A (p.Ile1425=) n.862G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417582A>C | CA389040266 | MHRT,MYH7 | c.4274T>G (p.Ile1425Ser) n.863A>C | |
| 14 | g.23417582A>G | CA389040268 | MHRT,MYH7 | c.4274T>C (p.Ile1425Thr) n.863A>G | |
| 14 | g.23417582A>T | CA389040269 | MHRT,MYH7 | c.4274T>A (p.Ile1425Asn) n.863A>T | |
| 14 | g.23417583T>A | CA389040271 | MHRT,MYH7 | c.4273A>T (p.Ile1425Phe) n.864T>A | gnomAD v4 |
| 14 | g.23417583T>C | CA389040272 | MHRT,MYH7 | c.4273A>G (p.Ile1425Val) n.864T>C | |
| 14 | g.23417583T>G | CA389040273 | MHRT,MYH7 | c.4273A>C (p.Ile1425Leu) n.864T>G | |
| 14 | g.23417584C>A | CA389040274 | MHRT,MYH7 | c.4272G>T (p.Glu1424Asp) n.865C>A | |
| 14 | g.23417584C>G | CA389040275 | MHRT,MYH7 | c.4272G>C (p.Glu1424Asp) n.865C>G | |
| 14 | g.23417584C>T | CA485617815 | MHRT,MYH7 | c.4272G>A (p.Glu1424=) n.865C>T | |
| 14 | g.23417585T>A | CA389040277 | MHRT,MYH7 | c.4271A>T (p.Glu1424Val) n.866T>A | ClinVar |
| 14 | g.23417585T>C | CA389040278 | MHRT,MYH7 | c.4271A>G (p.Glu1424Gly) n.866T>C | |
| 14 | g.23417585T>G | CA389040279 | MHRT,MYH7 | c.4271A>C (p.Glu1424Ala) n.866T>G | |
| 14 | g.23417586C>A | CA389040281 | MHRT,MYH7 | c.4270G>T (p.Glu1424Ter) n.867C>A | |
| 14 | g.23417586C= | CA2123469604 | MHRT,MYH7 | c.4270G= (p.Glu1424=) n.867C= | |
| 14 | g.23417586C>G | CA389040283 | MHRT,MYH7 | c.4270G>C (p.Glu1424Gln) n.867C>G | |
| 14 | g.23417586C>T | CA014734 | MHRT,MYH7 | c.4270G>A (p.Glu1424Lys) n.867C>T | ClinVar dbSNP COSMIC |
| 14 | g.23417587A= | CA2123469610 | MHRT,MYH7 | c.4269T= (p.Asn1423=) n.868A= | |
| 14 | g.23417587A>C | CA389040285 | MHRT,MYH7 | c.4269T>G (p.Asn1423Lys) n.868A>C | dbSNP gnomAD v4 |
| 14 | g.23417587A>G | CA485617819 | MHRT,MYH7 | c.4269T>C (p.Asn1423=) n.868A>G | dbSNP |
| 14 | g.23417587A>T | CA389040286 | MHRT,MYH7 | c.4269T>A (p.Asn1423Lys) n.868A>T | |
| 14 | g.23417588T>A | CA389040288 | MHRT,MYH7 | c.4268A>T (p.Asn1423Ile) n.869T>A | |
| 14 | g.23417588T>C | CA389040290 | MHRT,MYH7 | c.4268A>G (p.Asn1423Ser) n.869T>C | |
| 14 | g.23417588T>G | CA389040291 | MHRT,MYH7 | c.4268A>C (p.Asn1423Thr) n.869T>G | |
| 14 | g.23417589T>A | CA389040293 | MHRT,MYH7 | c.4267A>T (p.Asn1423Tyr) n.870T>A | |
| 14 | g.23417589T>C | CA389040294 | MHRT,MYH7 | c.4267A>G (p.Asn1423Asp) n.870T>C | |
| 14 | g.23417589T>G | CA389040296 | MHRT,MYH7 | c.4267A>C (p.Asn1423His) n.870T>G | |
| 14 | g.23417590C>A | CA389040297 | MHRT,MYH7 | c.4266G>T (p.Gln1422His) n.871C>A | |
| 14 | g.23417590C>G | CA389040299 | MHRT,MYH7 | c.4266G>C (p.Gln1422His) n.871C>G | |
| 14 | g.23417590C>T | CA485617820 | MHRT,MYH7 | c.4266G>A (p.Gln1422=) n.871C>T | |
| 14 | g.23417591T>A | CA389040300 | MHRT,MYH7 | c.4265A>T (p.Gln1422Leu) n.872T>A | |
| 14 | g.23417591T>C | CA389040302 | MHRT,MYH7 | c.4265A>G (p.Gln1422Arg) n.872T>C | |
| 14 | g.23417591T>G | CA389040304 | MHRT,MYH7 | c.4265A>C (p.Gln1422Pro) n.872T>G | |
| 14 | g.23417592G>A | CA389040306 | MHRT,MYH7 | c.4264C>T (p.Gln1422Ter) n.873G>A | |
| 14 | g.23417592G>C | CA389040308 | MHRT,MYH7 | c.4264C>G (p.Gln1422Glu) n.873G>C | |
| 14 | g.23417592G>T | CA389040307 | MHRT,MYH7 | c.4264C>A (p.Gln1422Lys) n.873G>T | ClinVar |
| 14 | g.23417593T>A | CA485617821 | MHRT,MYH7 | c.4263A>T (p.Leu1421=) n.874T>A | |
| 14 | g.23417593T>C | CA485617822 | MHRT,MYH7 | c.4263A>G (p.Leu1421=) n.874T>C | dbSNP |
| 14 | g.23417593T>G | CA485617823 | MHRT,MYH7 | c.4263A>C (p.Leu1421=) n.874T>G | |
| 14 | g.23417593T= | CA2123469616 | MHRT,MYH7 | c.4263A= (p.Leu1421=) n.874T= | |
| 14 | g.23417594A>C | CA389040310 | MHRT,MYH7 | c.4262T>G (p.Leu1421Arg) n.875A>C | |
| 14 | g.23417594A>G | CA389040314 | MHRT,MYH7 | c.4262T>C (p.Leu1421Pro) n.875A>G | |
| 14 | g.23417594A>T | CA389040312 | MHRT,MYH7 | c.4262T>A (p.Leu1421Gln) n.875A>T | |
| 14 | g.23417595G>A | CA485617824 | MHRT,MYH7 | c.4261C>T (p.Leu1421=) n.876G>A | |
| 14 | g.23417595G>C | CA389040315 | MHRT,MYH7 | c.4261C>G (p.Leu1421Val) n.876G>C | |
| 14 | g.23417595G= | CA2123469625 | MHRT,MYH7 | c.4261C= (p.Leu1421=) n.876G= | |
| 14 | g.23417595G>T | CA389040317 | MHRT,MYH7 | c.4261C>A (p.Leu1421Ile) n.876G>T | gnomAD v4 |
| 14 | g.23417596C>A | CA485617831 | MYH7 | c.4260G>T (p.Arg1420=) | |
| 14 | g.23417596C>G | CA485617829 | MYH7 | c.4260G>C (p.Arg1420=) | dbSNP |
| 14 | g.23417596C>T | CA485617830 | MYH7 | c.4260G>A (p.Arg1420=) | |
| 14 | g.23417597C>A | CA389040319 | MYH7 | c.4259G>T (p.Arg1420Leu) | COSMIC |
| 14 | g.23417597C= | CA2123441084 | MYH7 | c.4259G= (p.Arg1420=) | |
| 14 | g.23417597C>G | CA389040321 | MYH7 | c.4259G>C (p.Arg1420Pro) | ClinVar dbSNP |
| 14 | g.23417597C>T | CA014728 | MYH7 | c.4259G>A (p.Arg1420Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23417598G>A | CA014718 | MYH7 | c.4258C>T (p.Arg1420Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417598G>C | CA389040324 | MYH7 | c.4258C>G (p.Arg1420Gly) | |
| 14 | g.23417598G= | CA2123441092 | MYH7 | c.4258C= (p.Arg1420=) | |
| 14 | g.23417598G>T | CA485617833 | MYH7 | c.4258C>A (p.Arg1420=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417599G>A | CA485617834 | MYH7 | c.4257C>T (p.His1419=) | ClinVar dbSNP |
| 14 | g.23417599G>C | CA389040326 | MYH7 | c.4257C>G (p.His1419Gln) | |
| 14 | g.23417599G= | CA2123441098 | MYH7 | c.4257C= (p.His1419=) | |
| 14 | g.23417599G>T | CA389040327 | MYH7 | c.4257C>A (p.His1419Gln) | gnomAD v4 |
| 14 | g.23417600T>A | CA389040328 | MYH7 | c.4256A>T (p.His1419Leu) | ClinVar |
| 14 | g.23417600T>C | CA014711 | MYH7 | c.4256A>G (p.His1419Arg) | ClinVar dbSNP |
| 14 | g.23417600T>G | CA389040329 | MYH7 | c.4256A>C (p.His1419Pro) | |
| 14 | g.23417600T= | CA2123441104 | MYH7 | c.4256A= (p.His1419=) | |
| 14 | g.23417601G>A | CA389040331 | MYH7 | c.4255C>T (p.His1419Tyr) | |
| 14 | g.23417601G>C | CA389040335 | MYH7 | c.4255C>G (p.His1419Asp) | |
| 14 | g.23417601G>T | CA389040333 | MYH7 | c.4255C>A (p.His1419Asn) | |
| 14 | g.23417602C>A | CA389040336 | MYH7 | c.4254G>T (p.Lys1418Asn) | |
| 14 | g.23417602C>G | CA389040337 | MYH7 | c.4254G>C (p.Lys1418Asn) | |
| 14 | g.23417602C>T | CA485617838 | MYH7 | c.4254G>A (p.Lys1418=) | |
| 14 | g.23417603T>A | CA389040339 | MYH7 | c.4253A>T (p.Lys1418Met) | |
| 14 | g.23417603T>C | CA389040341 | MYH7 | c.4253A>G (p.Lys1418Arg) | |
| 14 | g.23417603T>G | CA389040343 | MYH7 | c.4253A>C (p.Lys1418Thr) | |
| 14 | g.23417604T>A | CA389040344 | MYH7 | c.4252A>T (p.Lys1418Ter) | |
| 14 | g.23417604T>C | CA389040346 | MYH7 | c.4252A>G (p.Lys1418Glu) | |
| 14 | g.23417604T>G | CA389040347 | MYH7 | c.4252A>C (p.Lys1418Gln) | COSMIC |
| 14 | g.23417605G>A | CA485617843 | MYH7 | c.4251C>T (p.Thr1417=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417605G>C | CA041415 | MYH7 | c.4251C>G (p.Thr1417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23417605G= | CA2123441114 | MYH7 | c.4251C= (p.Thr1417=) | |
| 14 | g.23417605G>T | CA485617844 | MYH7 | c.4251C>A (p.Thr1417=) | dbSNP gnomAD v2 |
| 14 | g.23417606G>A | CA16606529 | MYH7 | c.4250C>T (p.Thr1417Ile) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417606G>C | CA389040351 | MYH7 | c.4250C>G (p.Thr1417Ser) | gnomAD v4 |
| 14 | g.23417606G= | CA2123441127 | MYH7 | c.4250C= (p.Thr1417=) | |
| 14 | g.23417606G>T | CA389040349 | MYH7 | c.4250C>A (p.Thr1417Asn) | |
| 14 | g.23417607T>A | CA389040354 | MYH7 | c.4249A>T (p.Thr1417Ser) | |
| 14 | g.23417607T>C | CA389040355 | MYH7 | c.4249A>G (p.Thr1417Ala) | |
| 14 | g.23417607T>G | CA389040357 | MYH7 | c.4249A>C (p.Thr1417Pro) | |
| 14 | g.23417608C>A | CA389040358 | MYH7 | c.4248G>T (p.Lys1416Asn) | |
| 14 | g.23417608C= | CA2123441134 | MYH7 | c.4248G= (p.Lys1416=) | |
| 14 | g.23417608C>G | CA389040360 | MYH7 | c.4248G>C (p.Lys1416Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23417608C>T | CA485617849 | MYH7 | c.4248G>A (p.Lys1416=) | |
| 14 | g.23417609T>A | CA389040362 | MYH7 | c.4247A>T (p.Lys1416Met) | |
| 14 | g.23417609T>C | CA389040364 | MYH7 | c.4247A>G (p.Lys1416Arg) | |
| 14 | g.23417609T>G | CA389040365 | MYH7 | c.4247A>C (p.Lys1416Thr) | |
| 14 | g.23417610T>A | CA389040367 | MYH7 | c.4246A>T (p.Lys1416Ter) | |
| 14 | g.23417610T>C | CA041397 | MYH7 | c.4246A>G (p.Lys1416Glu) | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.23417610T>G | CA389040369 | MYH7 | c.4246A>C (p.Lys1416Gln) | |
| 14 | g.23417610T= | CA2123441143 | MYH7 | c.4246A= (p.Lys1416=) | |
| 14 | g.23417611C>A | CA389040372 | MYH7 | c.4245G>T (p.Glu1415Asp) | |
| 14 | g.23417611C= | CA2123441155 | MYH7 | c.4245G= (p.Glu1415=) | |
| 14 | g.23417611C>G | CA389040371 | MYH7 | c.4245G>C (p.Glu1415Asp) | |
| 14 | g.23417611C>T | CA041383 | MYH7 | c.4245G>A (p.Glu1415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23417612T>A | CA389040374 | MYH7 | c.4244A>T (p.Glu1415Val) | |
| 14 | g.23417612T>C | CA389040375 | MYH7 | c.4244A>G (p.Glu1415Gly) | |
| 14 | g.23417612T>G | CA389040377 | MYH7 | c.4244A>C (p.Glu1415Ala) | |
| 14 | g.23417613C>A | CA389040378 | MYH7 | c.4243G>T (p.Glu1415Ter) | COSMIC |
| 14 | g.23417613C= | CA2123441162 | MYH7 | c.4243G= (p.Glu1415=) | |
| 14 | g.23417613C>G | CA389040379 | MYH7 | c.4243G>C (p.Glu1415Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23417613C>T | CA389040380 | MYH7 | c.4243G>A (p.Glu1415Lys) | |
| 14 | g.23417613_23417614delinsAA | CA645581324 | MYH7 | c.4242_4243delinsTT (p.Leu1415Ter) | COSMIC |
| 14 | g.23417614C>A | CA485617858 | MYH7 | c.4242G>T (p.Leu1414=) | |
| 14 | g.23417614C>G | CA485617860 | MYH7 | c.4242G>C (p.Leu1414=) | |
| 14 | g.23417614C>T | CA485617863 | MYH7 | c.4242G>A (p.Leu1414=) | gnomAD v4 |
| 14 | g.23417615A>C | CA389040381 | MYH7 | c.4241T>G (p.Leu1414Arg) | |
| 14 | g.23417615A>G | CA389040382 | MYH7 | c.4241T>C (p.Leu1414Pro) | |
| 14 | g.23417615A>T | CA389040383 | MYH7 | c.4241T>A (p.Leu1414Gln) | |
| 14 | g.23417616G>A | CA485617865 | MYH7 | c.4240C>T (p.Leu1414=) | |
| 14 | g.23417616G>C | CA389040384 | MYH7 | c.4240C>G (p.Leu1414Val) | |
| 14 | g.23417616G= | CA2123441171 | MYH7 | c.4240C= (p.Leu1414=) | |
| 14 | g.23417616G>T | CA014704 | MYH7 | c.4240C>A (p.Leu1414Met) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23417617C>A | CA485617866 | MYH7 | c.4239G>T (p.Ser1413=) | dbSNP |
| 14 | g.23417617C= | CA2123441180 | MYH7 | c.4239G= (p.Ser1413=) | |
| 14 | g.23417617C>G | CA041354 | MYH7 | c.4239G>C (p.Ser1413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23417617C>T | CA014697 | MYH7 | c.4239G>A (p.Ser1413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23417618G>A | CA014687 | MYH7 | c.4238C>T (p.Ser1413Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23417618G>C | CA389040391 | MYH7 | c.4238C>G (p.Ser1413Trp) | |
| 14 | g.23417618G= | CA2123441197 | MYH7 | c.4238C= (p.Ser1413=) | |
| 14 | g.23417618G>T | CA257813292 | MYH7 | c.4238C>A (p.Ser1413Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |