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 |
|---|---|---|---|---|---|
| 1 | g.171652476_171652483del | CA2649106608 | MYOC | c.131_138del (p.Ser44MetfsTer12) c.130+1_130+8del | gnomAD v4 |
| 1 | g.171652476G>A | CA119179 | MYOC | c.136C>T (p.Arg46Ter) c.130+6C>T (n.130+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652476G>C | CA1244322 | MYOC | c.136C>G (p.Arg46Gly) c.130+6C>G (n.130+6C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652476G= | CA1140886917 | MYOC | c.136C= (p.Arg46=) c.130+6C= (n.130+6C=) | |
| 1 | g.171652476G>T | CA1244323 | MYOC | c.136C>A (p.Arg46=) c.130+6C>A (n.130+6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652477G>A | CA421938905 | MYOC | c.135C>T (p.Gly45=) c.130+5C>T (n.130+5C>T) | dbSNP |
| 1 | g.171652477G>C | CA421938904 | MYOC | c.135C>G (p.Gly45=) c.130+5C>G (n.130+5C>G) | |
| 1 | g.171652477G= | CA1207023246 | MYOC | c.135C= (p.Gly45=) c.130+5C= (n.130+5C=) | |
| 1 | g.171652477G>T | CA421938903 | MYOC | c.135C>A (p.Gly45=) c.130+5C>A (n.130+5C>A) | |
| 1 | g.171652478C>A | CA343719624 | MYOC | c.134G>T (p.Gly45Val) c.130+4G>T (n.130+4G>T) | |
| 1 | g.171652478C>G | CA343719626 | MYOC | c.134G>C (p.Gly45Ala) c.130+4G>C (n.130+4G>C) | |
| 1 | g.171652478C>T | CA343719628 | MYOC | c.134G>A (p.Gly45Asp) c.130+4G>A (n.130+4G>A) | |
| 1 | g.171652479C>A | CA343719630 | MYOC | c.133G>T (p.Gly45Cys) c.130+3G>T (n.130+3G>T) | |
| 1 | g.171652479C= | CA1207023247 | MYOC | c.133G= (p.Gly45=) c.130+3G= (n.130+3G=) | |
| 1 | g.171652479C>G | CA343719631 | MYOC | c.133G>C (p.Gly45Arg) c.130+3G>C (n.130+3G>C) | |
| 1 | g.171652479C>T | CA343719633 | MYOC | c.133G>A (p.Gly45Ser) c.130+3G>A (n.130+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652480A>C | CA343719636 | MYOC | c.132T>G (p.Ser44Arg) c.130+2T>G (n.130+2T>G) | |
| 1 | g.171652480A>G | CA421938914 | MYOC | c.132T>C (p.Ser44=) c.130+2T>C (n.130+2T>C) | |
| 1 | g.171652480A>T | CA343719637 | MYOC | c.132T>A (p.Ser44Arg) c.130+2T>A (n.130+2T>A) | |
| 1 | g.171652481C>A | CA343719642 | MYOC | c.131G>T (p.Ser44Ile) c.130+1G>T (n.130+1G>T) | |
| 1 | g.171652481C>G | CA343719643 | MYOC | c.131G>C (p.Ser44Thr) c.130+1G>C (n.130+1G>C) | |
| 1 | g.171652481C>T | CA343719644 | MYOC | c.131G>A (p.Ser44Asn) c.130+1G>A (n.130+1G>A) | gnomAD v4 |
| 1 | g.171652482T>A | CA343719655 | MYOC | c.130A>T (p.Ser44Cys) c.130A>T (p.Arg44Ter) | |
| 1 | g.171652482T>C | CA343719648 | MYOC | c.130A>G (p.Ser44Gly) c.130A>G (p.Arg44Gly) | |
| 1 | g.171652482T>G | CA343719645 | MYOC | c.130A>C (p.Ser44Arg) c.130A>C (p.Arg44=) | |
| 1 | g.171652482_171652483delinsTC | CA1207023248 | MYOC | c.129_130delinsGA (p.Gln43=) | |
| 1 | g.171652483del | CA891116470 | MYOC | c.129del (p.Ser44ValfsTer?) c.129del (p.Arg44GlufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.171652483C>A | CA343719658 | MYOC | c.129G>T (p.Gln43His) | |
| 1 | g.171652483C>G | CA343719659 | MYOC | c.129G>C (p.Gln43His) | |
| 1 | g.171652483C>T | CA421939048 | MYOC | c.129G>A (p.Gln43=) | |
| 1 | g.171652484T>A | CA343719663 | MYOC | c.128A>T (p.Gln43Leu) | |
| 1 | g.171652484T>C | CA343719664 | MYOC | c.128A>G (p.Gln43Arg) | |
| 1 | g.171652484T>G | CA343719666 | MYOC | c.128A>C (p.Gln43Pro) | |
| 1 | g.171652485G>A | CA343719668 | MYOC | c.127C>T (p.Gln43Ter) | |
| 1 | g.171652485G>C | CA343719670 | MYOC | c.127C>G (p.Gln43Glu) | |
| 1 | g.171652485G>T | CA343719672 | MYOC | c.127C>A (p.Gln43Lys) | |
| 1 | g.171652486G>A | CA421939052 | MYOC | c.126C>T (p.Asp42=) | |
| 1 | g.171652486G>C | CA343719673 | MYOC | c.126C>G (p.Asp42Glu) | |
| 1 | g.171652486G>T | CA343719678 | MYOC | c.126C>A (p.Asp42Glu) | |
| 1 | g.171652487T>A | CA343719680 | MYOC | c.125A>T (p.Asp42Val) | |
| 1 | g.171652487T>C | CA343719681 | MYOC | c.125A>G (p.Asp42Gly) | gnomAD v4 |
| 1 | g.171652487T>G | CA343719682 | MYOC | c.125A>C (p.Asp42Ala) | dbSNP |
| 1 | g.171652487T= | CA1207023249 | MYOC | c.125A= (p.Asp42=) | |
| 1 | g.171652487_171652488del | CA2518064731 | MYOC | c.124_125del (p.Asp42ProfsTer16) c.124_125del (p.Asp42ProfsTer17) | |
| 1 | g.171652488C>A | CA343719686 | MYOC | c.124G>T (p.Asp42Tyr) | |
| 1 | g.171652488C>G | CA343719685 | MYOC | c.124G>C (p.Asp42His) | |
| 1 | g.171652488C>T | CA343719684 | MYOC | c.124G>A (p.Asp42Asn) | |
| 1 | g.171652489A>C | CA343719687 | MYOC | c.123T>G (p.Asn41Lys) | |
| 1 | g.171652489A>G | CA421939066 | MYOC | c.123T>C (p.Asn41=) | |
| 1 | g.171652489A>T | CA343719689 | MYOC | c.123T>A (p.Asn41Lys) | |
| 1 | g.171652489_171652490delinsAT | CA1207023250 | MYOC | c.122_123delinsAT (p.Asn41=) | |
| 1 | g.171652490T>A | CA343719691 | MYOC | c.122A>T (p.Asn41Ile) | |
| 1 | g.171652490T>C | CA343719696 | MYOC | c.122A>G (p.Asn41Ser) | |
| 1 | g.171652490T>G | CA343719698 | MYOC | c.122A>C (p.Asn41Thr) | |
| 1 | g.171652491del | CA1244324 | MYOC | c.122del (p.Asn41MetfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652490_171652492del | CA2505251574 | MYOC | c.120_122del (p.Asn41del) | |
| 1 | g.171652491T>A | CA343719702 | MYOC | c.121A>T (p.Asn41Tyr) | |
| 1 | g.171652491T>C | CA343719704 | MYOC | c.121A>G (p.Asn41Asp) | |
| 1 | g.171652491T>G | CA343719706 | MYOC | c.121A>C (p.Asn41His) | |
| 1 | g.171652492G>A | CA421939072 | MYOC | c.120C>T (p.Ala40=) | |
| 1 | g.171652492G>C | CA421939073 | MYOC | c.120C>G (p.Ala40=) | |
| 1 | g.171652492G= | CA1207023251 | MYOC | c.120C= (p.Ala40=) | |
| 1 | g.171652492G>T | CA1244325 | MYOC | c.120C>A (p.Ala40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652493G>A | CA1244326 | MYOC | c.119C>T (p.Ala40Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.171652493G>C | CA343719713 | MYOC | c.119C>G (p.Ala40Gly) | |
| 1 | g.171652493G= | CA1207023252 | MYOC | c.119C= (p.Ala40=) | |
| 1 | g.171652493G>T | CA343719715 | MYOC | c.119C>A (p.Ala40Asp) | |
| 1 | g.171652494C>A | CA343719721 | MYOC | c.118G>T (p.Ala40Ser) | |
| 1 | g.171652494C= | CA1207023253 | MYOC | c.118G= (p.Ala40=) | |
| 1 | g.171652494C>G | CA343719720 | MYOC | c.118G>C (p.Ala40Pro) | |
| 1 | g.171652494C>T | CA343719718 | MYOC | c.118G>A (p.Ala40Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652495C>A | CA343719725 | MYOC | c.117G>T (p.Lys39Asn) | |
| 1 | g.171652495C= | CA1207023254 | MYOC | c.117G= (p.Lys39=) | |
| 1 | g.171652495C>G | CA343719724 | MYOC | c.117G>C (p.Lys39Asn) | |
| 1 | g.171652495C>T | CA421939080 | MYOC | c.117G>A (p.Lys39=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.171652496T>A | CA343719727 | MYOC | c.116A>T (p.Lys39Met) | |
| 1 | g.171652496T>C | CA343719729 | MYOC | c.116A>G (p.Lys39Arg) | ClinVar gnomAD v4 |
| 1 | g.171652496T>G | CA343719731 | MYOC | c.116A>C (p.Lys39Thr) | |
| 1 | g.171652496_171652497insGG | CA2697510813 | MYOC | c.115_116insCC (p.Lys39ThrfsTer?) | dbSNP |
| 1 | g.171652497T>A | CA343719733 | MYOC | c.115A>T (p.Lys39Ter) | |
| 1 | g.171652497T>C | CA343719734 | MYOC | c.115A>G (p.Lys39Glu) | |
| 1 | g.171652497T>G | CA343719736 | MYOC | c.115A>C (p.Lys39Gln) | |
| 1 | g.171652498C>A | CA343719738 | MYOC | c.114G>T (p.Arg38Ser) | |
| 1 | g.171652498C= | CA1207023255 | MYOC | c.114G= (p.Arg38=) | |
| 1 | g.171652498C>G | CA343719739 | MYOC | c.114G>C (p.Arg38Ser) | |
| 1 | g.171652498C>T | CA1244327 | MYOC | c.114G>A (p.Arg38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.171652499del | CA2697510817 | MYOC | c.114del (p.Lys39ArgfsTer?) | dbSNP |
| 1 | g.171652499C>A | CA343719742 | MYOC | c.113G>T (p.Arg38Met) | |
| 1 | g.171652499C= | CA1207023256 | MYOC | c.113G= (p.Arg38=) | |
| 1 | g.171652499C>G | CA343719744 | MYOC | c.113G>C (p.Arg38Thr) | dbSNP |
| 1 | g.171652499C>T | CA1244328 | MYOC | c.113G>A (p.Arg38Lys) | dbSNP ExAC |
| 1 | g.171652500T>A | CA343719749 | MYOC | c.112A>T (p.Arg38Trp) | |
| 1 | g.171652500T>C | CA343719747 | MYOC | c.112A>G (p.Arg38Gly) | gnomAD v4 |
| 1 | g.171652500T>G | CA421939092 | MYOC | c.112A>C (p.Arg38=) | |
| 1 | g.171652501G>A | CA421939097 | MYOC | c.111C>T (p.Leu37=) | |
| 1 | g.171652501G>C | CA421939099 | MYOC | c.111C>G (p.Leu37=) | gnomAD v4 |
| 1 | g.171652501G>T | CA421939100 | MYOC | c.111C>A (p.Leu37=) | |
| 1 | g.171652502A>C | CA343719750 | MYOC | c.110T>G (p.Leu37Arg) | |
| 1 | g.171652502A>G | CA343719752 | MYOC | c.110T>C (p.Leu37Pro) | |
| 1 | g.171652502A>T | CA343719753 | MYOC | c.110T>A (p.Leu37His) | |
| 1 | g.171652503G>A | CA343719754 | MYOC | c.109C>T (p.Leu37Phe) | |
| 1 | g.171652503G>C | CA1244329 | MYOC | c.109C>G (p.Leu37Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652503G= | CA1207023257 | MYOC | c.109C= (p.Leu37=) | |
| 1 | g.171652503G>T | CA343719755 | MYOC | c.109C>A (p.Leu37Ile) | |
| 1 | g.171652504C>A | CA343719757 | MYOC | c.108G>T (p.Gln36His) | |
| 1 | g.171652504C>G | CA343719758 | MYOC | c.108G>C (p.Gln36His) | |
| 1 | g.171652504C>T | CA421939116 | MYOC | c.108G>A (p.Gln36=) | |
| 1 | g.171652505T>A | CA343719759 | MYOC | c.107A>T (p.Gln36Leu) | |
| 1 | g.171652505T>C | CA343719760 | MYOC | c.107A>G (p.Gln36Arg) | dbSNP |
| 1 | g.171652505T>G | CA343719762 | MYOC | c.107A>C (p.Gln36Pro) | |
| 1 | g.171652506G>A | CA343719765 | MYOC | c.106C>T (p.Gln36Ter) | gnomAD v4 |
| 1 | g.171652506G>C | CA343719766 | MYOC | c.106C>G (p.Gln36Glu) | |
| 1 | g.171652506G>T | CA343719768 | MYOC | c.106C>A (p.Gln36Lys) | |
| 1 | g.171652507A>C | CA421939124 | MYOC | c.105T>G (p.Ala35=) | |
| 1 | g.171652507A>G | CA421939126 | MYOC | c.105T>C (p.Ala35=) | |
| 1 | g.171652507A>T | CA421939127 | MYOC | c.105T>A (p.Ala35=) | gnomAD v4 |
| 1 | g.171652508G>A | CA343719771 | MYOC | c.104C>T (p.Ala35Val) | |
| 1 | g.171652508G>C | CA343719773 | MYOC | c.104C>G (p.Ala35Gly) | gnomAD v4 |
| 1 | g.171652508G>T | CA343719770 | MYOC | c.104C>A (p.Ala35Asp) | |
| 1 | g.171652509C>A | CA343719775 | MYOC | c.103G>T (p.Ala35Ser) | |
| 1 | g.171652509C= | CA1207023258 | MYOC | c.103G= (p.Ala35=) | |
| 1 | g.171652509C>G | CA343719779 | MYOC | c.103G>C (p.Ala35Pro) | |
| 1 | g.171652509C>T | CA343719777 | MYOC | c.103G>A (p.Ala35Thr) | dbSNP |
| 1 | g.171652510T>A | CA421939130 | MYOC | c.102A>T (p.Thr34=) | |
| 1 | g.171652510T>C | CA421939131 | MYOC | c.102A>G (p.Thr34=) | gnomAD v4 |
| 1 | g.171652510T>G | CA421939134 | MYOC | c.102A>C (p.Thr34=) | |
| 1 | g.171652511G>A | CA343719781 | MYOC | c.101C>T (p.Thr34Ile) | |
| 1 | g.171652511G>C | CA343719782 | MYOC | c.101C>G (p.Thr34Arg) | |
| 1 | g.171652511G= | CA1207023259 | MYOC | c.101C= (p.Thr34=) | |
| 1 | g.171652511G>T | CA343719784 | MYOC | c.101C>A (p.Thr34Lys) | |
| 1 | g.171652511_171652512insAGCTC | CA527600380 | MYOC | c.100_101insGAGCT (p.Thr34ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652512T>A | CA343719786 | MYOC | c.100A>T (p.Thr34Ser) | |
| 1 | g.171652512T>C | CA343719788 | MYOC | c.100A>G (p.Thr34Ala) | |
| 1 | g.171652512T>G | CA343719789 | MYOC | c.100A>C (p.Thr34Pro) | |
| 1 | g.171652513C>A | CA343719792 | MYOC | c.99G>T (p.Arg33Ser) | |
| 1 | g.171652513C>G | CA343719793 | MYOC | c.99G>C (p.Arg33Ser) | gnomAD v4 |
| 1 | g.171652513C>T | CA421939149 | MYOC | c.99G>A (p.Arg33=) | |
| 1 | g.171652514C>A | CA343719795 | MYOC | c.98G>T (p.Arg33Met) | gnomAD v4 |
| 1 | g.171652514C= | CA1147133438 | MYOC | c.98G= (p.Arg33=) | |
| 1 | g.171652514C>G | CA343719798 | MYOC | c.98G>C (p.Arg33Thr) | |
| 1 | g.171652514C>T | CA1244330 | MYOC | c.98G>A (p.Arg33Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652515T>A | CA343719803 | MYOC | c.97A>T (p.Arg33Trp) | |
| 1 | g.171652515T>C | CA343719801 | MYOC | c.97A>G (p.Arg33Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652515T>G | CA421939151 | MYOC | c.97A>C (p.Arg33=) | |
| 1 | g.171652515T= | CA1207023260 | MYOC | c.97A= (p.Arg33=) | |
| 1 | g.171652516G>A | CA421939152 | MYOC | c.96C>T (p.Ala32=) | |
| 1 | g.171652516G>C | CA421939153 | MYOC | c.96C>G (p.Ala32=) | |
| 1 | g.171652516G>T | CA421939154 | MYOC | c.96C>A (p.Ala32=) | |
| 1 | g.171652517G>A | CA343719804 | MYOC | c.95C>T (p.Ala32Val) | |
| 1 | g.171652517G>C | CA343719805 | MYOC | c.95C>G (p.Ala32Gly) | |
| 1 | g.171652517G>T | CA343719806 | MYOC | c.95C>A (p.Ala32Asp) | |
| 1 | g.171652518C>A | CA343719809 | MYOC | c.94G>T (p.Ala32Ser) | gnomAD v4 |
| 1 | g.171652518C= | CA1207023261 | MYOC | c.94G= (p.Ala32=) | |
| 1 | g.171652518C>G | CA343719810 | MYOC | c.94G>C (p.Ala32Pro) | |
| 1 | g.171652518C>T | CA343719811 | MYOC | c.94G>A (p.Ala32Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.171652519C>A | CA421939159 | MYOC | c.93G>T (p.Gly31=) | |
| 1 | g.171652519C>G | CA421939157 | MYOC | c.93G>C (p.Gly31=) | |
| 1 | g.171652519C>T | CA421939155 | MYOC | c.93G>A (p.Gly31=) | |
| 1 | g.171652520C>A | CA343719812 | MYOC | c.92G>T (p.Gly31Val) | |
| 1 | g.171652520C= | CA1207023262 | MYOC | c.92G= (p.Gly31=) | |
| 1 | g.171652520C>G | CA343719813 | MYOC | c.92G>C (p.Gly31Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652520C>T | CA32666853 | MYOC | c.92G>A (p.Gly31Glu) | dbSNP |
| 1 | g.171652521C>A | CA1244331 | MYOC | c.91G>T (p.Gly31Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652521C= | CA1142382315 | MYOC | c.91G= (p.Gly31=) | |
| 1 | g.171652521C>G | CA343719817 | MYOC | c.91G>C (p.Gly31Arg) | |
| 1 | g.171652521C>T | CA343719819 | MYOC | c.91G>A (p.Gly31Arg) | |
| 1 | g.171652522C>A | CA421939177 | MYOC | c.90G>T (p.Val30=) | |
| 1 | g.171652522C= | CA1207023263 | MYOC | c.90G= (p.Val30=) | |
| 1 | g.171652522C>G | CA421939176 | MYOC | c.90G>C (p.Val30=) | |
| 1 | g.171652522C>T | CA421939175 | MYOC | c.90G>A (p.Val30=) | dbSNP gnomAD v4 |
| 1 | g.171652523A>C | CA343719822 | MYOC | c.89T>G (p.Val30Gly) | |
| 1 | g.171652523A>G | CA343719824 | MYOC | c.89T>C (p.Val30Ala) | |
| 1 | g.171652523A>T | CA343719821 | MYOC | c.89T>A (p.Val30Glu) | |
| 1 | g.171652524C>A | CA343719827 | MYOC | c.88G>T (p.Val30Leu) | |
| 1 | g.171652524C>G | CA343719829 | MYOC | c.88G>C (p.Val30Leu) | |
| 1 | g.171652524C>T | CA343719831 | MYOC | c.88G>A (p.Val30Met) | gnomAD v4 |
| 1 | g.171652525A>C | CA343719833 | MYOC | c.87T>G (p.Asp29Glu) | |
| 1 | g.171652525A>G | CA421939182 | MYOC | c.87T>C (p.Asp29=) | |
| 1 | g.171652525A>T | CA343719835 | MYOC | c.87T>A (p.Asp29Glu) | |
| 1 | g.171652526T>A | CA343719843 | MYOC | c.86A>T (p.Asp29Val) | |
| 1 | g.171652526T>C | CA343719841 | MYOC | c.86A>G (p.Asp29Gly) | |
| 1 | g.171652526T>G | CA343719838 | MYOC | c.86A>C (p.Asp29Ala) | |
| 1 | g.171652527C>A | CA343719846 | MYOC | c.85G>T (p.Asp29Tyr) | |
| 1 | g.171652527C>G | CA343719848 | MYOC | c.85G>C (p.Asp29His) | |
| 1 | g.171652527C>T | CA343719850 | MYOC | c.85G>A (p.Asp29Asn) | |
| 1 | g.171652528C>A | CA343719851 | MYOC | c.84G>T (p.Trp28Cys) | |
| 1 | g.171652528C>G | CA343719852 | MYOC | c.84G>C (p.Trp28Cys) | |
| 1 | g.171652528C>T | CA343719855 | MYOC | c.84G>A (p.Trp28Ter) | COSMIC |
| 1 | g.171652529C>A | CA343719857 | MYOC | c.83G>T (p.Trp28Leu) | |
| 1 | g.171652529C= | CA1142308775 | MYOC | c.83G= (p.Trp28=) | |
| 1 | g.171652529C>G | CA32666865 | MYOC | c.83G>C (p.Trp28Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652529C>T | CA343719860 | MYOC | c.83G>A (p.Trp28Ter) | COSMIC |
| 1 | g.171652530A>C | CA343719865 | MYOC | c.82T>G (p.Trp28Gly) | |
| 1 | g.171652530A>G | CA343719866 | MYOC | c.82T>C (p.Trp28Arg) | |
| 1 | g.171652530A>T | CA343719868 | MYOC | c.82T>A (p.Trp28Arg) | |
| 1 | g.171652531C>A | CA421939196 | MYOC | c.81G>T (p.Val27=) | |
| 1 | g.171652531C= | CA1207023264 | MYOC | c.81G= (p.Val27=) | |
| 1 | g.171652531C>G | CA421939200 | MYOC | c.81G>C (p.Val27=) | |
| 1 | g.171652531C>T | CA32666868 | MYOC | c.81G>A (p.Val27=) | dbSNP |
| 1 | g.171652532A>C | CA343719871 | MYOC | c.80T>G (p.Val27Gly) | |
| 1 | g.171652532A>G | CA343719873 | MYOC | c.80T>C (p.Val27Ala) | |
| 1 | g.171652532A>T | CA343719875 | MYOC | c.80T>A (p.Val27Glu) | |
| 1 | g.171652533C>A | CA343719876 | MYOC | c.79G>T (p.Val27Leu) | |
| 1 | g.171652533C>G | CA343719877 | MYOC | c.79G>C (p.Val27Leu) | |
| 1 | g.171652533C>T | CA343719880 | MYOC | c.79G>A (p.Val27Met) | |
| 1 | g.171652534C>A | CA421939211 | MYOC | c.78G>T (p.Leu26=) | |
| 1 | g.171652534C>G | CA421939212 | MYOC | c.78G>C (p.Leu26=) | |
| 1 | g.171652534C>T | CA421939213 | MYOC | c.78G>A (p.Leu26=) | |
| 1 | g.171652535A>C | CA343719883 | MYOC | c.77T>G (p.Leu26Arg) | |
| 1 | g.171652535A>G | CA343719885 | MYOC | c.77T>C (p.Leu26Pro) | |
| 1 | g.171652535A>T | CA343719886 | MYOC | c.77T>A (p.Leu26Gln) | |
| 1 | g.171652536G>A | CA421939216 | MYOC | c.76C>T (p.Leu26=) | |
| 1 | g.171652536G>C | CA343719889 | MYOC | c.76C>G (p.Leu26Val) | |
| 1 | g.171652536G>T | CA343719891 | MYOC | c.76C>A (p.Leu26Met) | |
| 1 | g.171652537G>A | CA421939221 | MYOC | c.75C>T (p.Cys25=) | |
| 1 | g.171652537G>C | CA343719892 | MYOC | c.75C>G (p.Cys25Trp) | |
| 1 | g.171652537G>T | CA343719894 | MYOC | c.75C>A (p.Cys25Ter) | |
| 1 | g.171652538C>A | CA343719896 | MYOC | c.74G>T (p.Cys25Phe) | |
| 1 | g.171652538C>G | CA343719900 | MYOC | c.74G>C (p.Cys25Ser) | |
| 1 | g.171652538C>T | CA343719897 | MYOC | c.74G>A (p.Cys25Tyr) | gnomAD v4 |
| 1 | g.171652539A= | CA1207023265 | MYOC | c.73T= (p.Cys25=) | |
| 1 | g.171652539A>C | CA343719902 | MYOC | c.73T>G (p.Cys25Gly) | |
| 1 | g.171652539A>G | CA1244332 | MYOC | c.73T>C (p.Cys25Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652539A>T | CA343719904 | MYOC | c.73T>A (p.Cys25Ser) | |
| 1 | g.171652540G>A | CA421939231 | MYOC | c.72C>T (p.Ala24=) | |
| 1 | g.171652540G>C | CA421939229 | MYOC | c.72C>G (p.Ala24=) | |
| 1 | g.171652540G>T | CA421939230 | MYOC | c.72C>A (p.Ala24=) | |
| 1 | g.171652542_171652558dup | CA1244333 | MYOC | c.56_72dup (p.Cys25SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652541G>A | CA343719910 | MYOC | c.71C>T (p.Ala24Val) | |
| 1 | g.171652541G>C | CA343719912 | MYOC | c.71C>G (p.Ala24Gly) | |
| 1 | g.171652541G= | CA1207023266 | MYOC | c.71C= (p.Ala24=) | |
| 1 | g.171652541G>T | CA32666885 | MYOC | c.71C>A (p.Ala24Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652542C>A | CA343719915 | MYOC | c.70G>T (p.Ala24Ser) | |
| 1 | g.171652542C>G | CA343719916 | MYOC | c.70G>C (p.Ala24Pro) | |
| 1 | g.171652542C>T | CA343719919 | MYOC | c.70G>A (p.Ala24Thr) | |
| 1 | g.171652543C>A | CA421939233 | MYOC | c.69G>T (p.Leu23=) | |
| 1 | g.171652543C>G | CA421939234 | MYOC | c.69G>C (p.Leu23=) | |
| 1 | g.171652543C>T | CA421939236 | MYOC | c.69G>A (p.Leu23=) | |
| 1 | g.171652544A>C | CA343719921 | MYOC | c.68T>G (p.Leu23Arg) | |
| 1 | g.171652544A>G | CA343719924 | MYOC | c.68T>C (p.Leu23Pro) | |
| 1 | g.171652544A>T | CA343719926 | MYOC | c.68T>A (p.Leu23Gln) | |
| 1 | g.171652545G>A | CA421939243 | MYOC | c.67C>T (p.Leu23=) | |
| 1 | g.171652545G>C | CA343719929 | MYOC | c.67C>G (p.Leu23Val) | |
| 1 | g.171652545G>T | CA343719931 | MYOC | c.67C>A (p.Leu23Met) | |
| 1 | g.171652545_171652546delinsGA | CA1207023267 | MYOC | c.66_67delinsTC (p.Leu22=) | |
| 1 | g.171652546A>C | CA421939250 | MYOC | c.66T>G (p.Leu22=) | |
| 1 | g.171652546A>G | CA421939251 | MYOC | c.66T>C (p.Leu22=) | |
| 1 | g.171652546A>T | CA421939252 | MYOC | c.66T>A (p.Leu22=) | |
| 1 | g.171652546_171652547delinsAA | CA1148420620 | MYOC | c.65_66delinsTT (p.Leu22=) | |
| 1 | g.171652547del | CA1244334 | MYOC | c.66del (p.Leu23TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652547A>C | CA343719935 | MYOC | c.65T>G (p.Leu22Arg) | |
| 1 | g.171652547A>G | CA343719939 | MYOC | c.65T>C (p.Leu22Pro) | |
| 1 | g.171652547A>T | CA343719937 | MYOC | c.65T>A (p.Leu22His) | |
| 1 | g.171652548G>A | CA343719941 | MYOC | c.64C>T (p.Leu22Phe) | |
| 1 | g.171652548G>C | CA343719943 | MYOC | c.64C>G (p.Leu22Val) | |
| 1 | g.171652548G>T | CA343719945 | MYOC | c.64C>A (p.Leu22Ile) | |
| 1 | g.171652549C>A | CA421939261 | MYOC | c.63G>T (p.Leu21=) | |
| 1 | g.171652549C>G | CA421939262 | MYOC | c.63G>C (p.Leu21=) | |
| 1 | g.171652549C>T | CA421939263 | MYOC | c.63G>A (p.Leu21=) | |
| 1 | g.171652550A>C | CA343719947 | MYOC | c.62T>G (p.Leu21Arg) | |
| 1 | g.171652550A>G | CA343719949 | MYOC | c.62T>C (p.Leu21Pro) | |
| 1 | g.171652550A>T | CA343719950 | MYOC | c.62T>A (p.Leu21Gln) | |
| 1 | g.171652551G>A | CA1244335 | MYOC | c.61C>T (p.Leu21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652551G>C | CA343719955 | MYOC | c.61C>G (p.Leu21Val) | |
| 1 | g.171652551G= | CA1207023268 | MYOC | c.61C= (p.Leu21=) | |
| 1 | g.171652551G>T | CA343719957 | MYOC | c.61C>A (p.Leu21Met) | |
| 1 | g.171652552C>A | CA421939266 | MYOC | c.60G>T (p.Leu20=) | |
| 1 | g.171652552C>G | CA421939268 | MYOC | c.60G>C (p.Leu20=) | |
| 1 | g.171652552C>T | CA421939269 | MYOC | c.60G>A (p.Leu20=) | |
| 1 | g.171652553A>C | CA343719966 | MYOC | c.59T>G (p.Leu20Arg) | |
| 1 | g.171652553A>G | CA343719965 | MYOC | c.59T>C (p.Leu20Pro) | |
| 1 | g.171652553A>T | CA343719960 | MYOC | c.59T>A (p.Leu20Gln) | |
| 1 | g.171652554G>A | CA421939275 | MYOC | c.58C>T (p.Leu20=) | gnomAD v4 |
| 1 | g.171652554G>C | CA343719968 | MYOC | c.58C>G (p.Leu20Val) | |
| 1 | g.171652554G>T | CA343719970 | MYOC | c.58C>A (p.Leu20Met) | |
| 1 | g.171652555C>A | CA1244336 | MYOC | c.57G>T (p.Gln19His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652555C= | CA1139921944 | MYOC | c.57G= (p.Gln19=) | |
| 1 | g.171652555C>G | CA343719974 | MYOC | c.57G>C (p.Gln19His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652555C>T | CA1244337 | MYOC | c.57G>A (p.Gln19=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652556T>A | CA343719982 | MYOC | c.56A>T (p.Gln19Leu) | COSMIC |
| 1 | g.171652556T>C | CA343719979 | MYOC | c.56A>G (p.Gln19Arg) | |
| 1 | g.171652556T>G | CA343719977 | MYOC | c.56A>C (p.Gln19Pro) | |
| 1 | g.171652557G>A | CA343719985 | MYOC | c.55C>T (p.Gln19Ter) | |
| 1 | g.171652557G>C | CA343719987 | MYOC | c.55C>G (p.Gln19Glu) | |
| 1 | g.171652557G>T | CA343719989 | MYOC | c.55C>A (p.Gln19Lys) | ClinVar |
| 1 | g.171652558G>A | CA421939289 | MYOC | c.54C>T (p.Val18=) | |
| 1 | g.171652558G>C | CA421939291 | MYOC | c.54C>G (p.Val18=) | |
| 1 | g.171652558G>T | CA421939293 | MYOC | c.54C>A (p.Val18=) | |
| 1 | g.171652559A>C | CA343719992 | MYOC | c.53T>G (p.Val18Gly) | |
| 1 | g.171652559A>G | CA343719994 | MYOC | c.53T>C (p.Val18Ala) | |
| 1 | g.171652559A>T | CA343719997 | MYOC | c.53T>A (p.Val18Asp) | |
| 1 | g.171652560C>A | CA343720000 | MYOC | c.52G>T (p.Val18Phe) | |
| 1 | g.171652560C>G | CA343720005 | MYOC | c.52G>C (p.Val18Leu) | dbSNP |
| 1 | g.171652560C>T | CA343720002 | MYOC | c.52G>A (p.Val18Ile) | |
| 1 | g.171652561A= | CA1207023269 | MYOC | c.51T= (p.Ala17=) | |
| 1 | g.171652561A>C | CA421939310 | MYOC | c.51T>G (p.Ala17=) | |
| 1 | g.171652561A>G | CA1244338 | MYOC | c.51T>C (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652561A>T | CA421939305 | MYOC | c.51T>A (p.Ala17=) | |
| 1 | g.171652562G>A | CA343720009 | MYOC | c.50C>T (p.Ala17Val) | |
| 1 | g.171652562G>C | CA343720011 | MYOC | c.50C>G (p.Ala17Gly) | |
| 1 | g.171652562G>T | CA343720014 | MYOC | c.50C>A (p.Ala17Asp) | |
| 1 | g.171652563C>A | CA343720017 | MYOC | c.49G>T (p.Ala17Ser) | |
| 1 | g.171652563C= | CA1207023270 | MYOC | c.49G= (p.Ala17=) | |
| 1 | g.171652563C>G | CA343720019 | MYOC | c.49G>C (p.Ala17Pro) | |
| 1 | g.171652563C>T | CA32666917 | MYOC | c.49G>A (p.Ala17Thr) | dbSNP gnomAD v4 |
| 1 | g.171652564T>A | CA421939318 | MYOC | c.48A>T (p.Pro16=) | |
| 1 | g.171652564T>C | CA421939317 | MYOC | c.48A>G (p.Pro16=) | |
| 1 | g.171652564T>G | CA421939316 | MYOC | c.48A>C (p.Pro16=) | |
| 1 | g.171652565G>A | CA1244339 | MYOC | c.47C>T (p.Pro16Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652565G>C | CA343720023 | MYOC | c.47C>G (p.Pro16Arg) | |
| 1 | g.171652565G= | CA1148235854 | MYOC | c.47C= (p.Pro16=) | |
| 1 | g.171652565G>T | CA343720025 | MYOC | c.47C>A (p.Pro16Gln) | |
| 1 | g.171652566G>A | CA343720032 | MYOC | c.46C>T (p.Pro16Ser) | gnomAD v4 |
| 1 | g.171652566G>C | CA343720030 | MYOC | c.46C>G (p.Pro16Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652566G= | CA1207023271 | MYOC | c.46C= (p.Pro16=) | |
| 1 | g.171652566G>T | CA343720028 | MYOC | c.46C>A (p.Pro16Thr) | |
| 1 | g.171652567C>A | CA343720035 | MYOC | c.45G>T (p.Met15Ile) | |
| 1 | g.171652567C>G | CA343720037 | MYOC | c.45G>C (p.Met15Ile) | |
| 1 | g.171652567C>T | CA343720038 | MYOC | c.45G>A (p.Met15Ile) | gnomAD v4 |
| 1 | g.171652568A= | CA1144674344 | MYOC | c.44T= (p.Met15=) | |
| 1 | g.171652568A>C | CA343720041 | MYOC | c.44T>G (p.Met15Arg) | gnomAD v4 |
| 1 | g.171652568A>G | CA343720043 | MYOC | c.44T>C (p.Met15Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652568A>T | CA1244340 | MYOC | c.44T>A (p.Met15Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652569T>A | CA343720052 | MYOC | c.43A>T (p.Met15Leu) | |
| 1 | g.171652569T>C | CA343720049 | MYOC | c.43A>G (p.Met15Val) | gnomAD v4 |
| 1 | g.171652569T>G | CA343720047 | MYOC | c.43A>C (p.Met15Leu) | |
| 1 | g.171652570C>A | CA343720055 | MYOC | c.42G>T (p.Glu14Asp) | |
| 1 | g.171652570C= | CA1207023272 | MYOC | c.42G= (p.Glu14=) | |
| 1 | g.171652570C>G | CA343720056 | MYOC | c.42G>C (p.Glu14Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.171652570C>T | CA1244341 | MYOC | c.42G>A (p.Glu14=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652571T>A | CA343720060 | MYOC | c.41A>T (p.Glu14Val) | |
| 1 | g.171652571T>C | CA343720061 | MYOC | c.41A>G (p.Glu14Gly) | gnomAD v4 |
| 1 | g.171652571T>G | CA343720064 | MYOC | c.41A>C (p.Glu14Ala) | |
| 1 | g.171652572C>A | CA343720067 | MYOC | c.40G>T (p.Glu14Ter) | |
| 1 | g.171652572C>G | CA343720071 | MYOC | c.40G>C (p.Glu14Gln) | gnomAD v4 |
| 1 | g.171652572C>T | CA343720069 | MYOC | c.40G>A (p.Glu14Lys) | |
| 1 | g.171652573A= | CA1140345539 | MYOC | c.39T= (p.Pro13=) | |
| 1 | g.171652573A>C | CA1244342 | MYOC | c.39T>G (p.Pro13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652573A>G | CA1244343 | MYOC | c.39T>C (p.Pro13=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652573A>T | CA421939337 | MYOC | c.39T>A (p.Pro13=) | |
| 1 | g.171652574G>A | CA343720077 | MYOC | c.38C>T (p.Pro13Leu) | ClinVar |
| 1 | g.171652574G>C | CA343720079 | MYOC | c.38C>G (p.Pro13Arg) | |
| 1 | g.171652574G>T | CA343720081 | MYOC | c.38C>A (p.Pro13His) | |
| 1 | g.171652575G>A | CA343720084 | MYOC | c.37C>T (p.Pro13Ser) | |
| 1 | g.171652575G>C | CA343720086 | MYOC | c.37C>G (p.Pro13Ala) | |
| 1 | g.171652575G>T | CA343720088 | MYOC | c.37C>A (p.Pro13Thr) | |
| 1 | g.171652576C>A | CA1244344 | MYOC | c.36G>T (p.Gly12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652576C= | CA1207023273 | MYOC | c.36G= (p.Gly12=) | |
| 1 | g.171652576C>G | CA421939345 | MYOC | c.36G>C (p.Gly12=) | |
| 1 | g.171652576C>T | CA421939346 | MYOC | c.36G>A (p.Gly12=) | COSMIC |