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.23432678_23432719del | CA2624252269 | MYH7 | c.422_463del (p.Ala141_Phe155delinsVal) n.528_569del | gnomAD v4 |
| 14 | g.23432705T>A | CA389052822 | MYH7 | c.436A>T (p.Lys146Ter) n.542A>T | |
| 14 | g.23432705T>C | CA389052823 | MYH7 | c.436A>G (p.Lys146Glu) n.542A>G | |
| 14 | g.23432705T>G | CA389052824 | MYH7 | c.436A>C (p.Lys146Gln) n.542A>C | |
| 14 | g.23432706C>A | CA389052825 | MYH7 | c.435G>T (p.Lys145Asn) n.541G>T | |
| 14 | g.23432706C>G | CA389052826 | MYH7 | c.435G>C (p.Lys145Asn) n.541G>C | |
| 14 | g.23432706C>T | CA485626465 | MYH7 | c.435G>A (p.Lys145=) n.541G>A | |
| 14 | g.23432707T>A | CA389052827 | MYH7 | c.434A>T (p.Lys145Met) n.540A>T | |
| 14 | g.23432707T>C | CA389052828 | MYH7 | c.434A>G (p.Lys145Arg) n.540A>G | |
| 14 | g.23432707T>G | CA389052829 | MYH7 | c.434A>C (p.Lys145Thr) n.540A>C | |
| 14 | g.23432708T>A | CA389052830 | MYH7 | c.433A>T (p.Lys145Ter) n.539A>T | |
| 14 | g.23432708T>C | CA389052831 | MYH7 | c.433A>G (p.Lys145Glu) n.539A>G | ClinVar |
| 14 | g.23432708T>G | CA389052832 | MYH7 | c.433A>C (p.Lys145Gln) n.539A>C | |
| 14 | g.23432709G>A | CA485626466 | MYH7 | c.432C>T (p.Gly144=) n.538C>T | |
| 14 | g.23432709G>C | CA485626467 | MYH7 | c.432C>G (p.Gly144=) n.538C>G | |
| 14 | g.23432709G= | CA2123454191 | MYH7 | c.432C= (p.Gly144=) n.538C= | |
| 14 | g.23432709G>T | CA041650 | MYH7 | c.432C>A (p.Gly144=) n.538C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432710C>A | CA389052833 | MYH7 | c.431G>T (p.Gly144Val) n.537G>T | ClinVar dbSNP |
| 14 | g.23432710C= | CA2123454194 | MYH7 | c.431G= (p.Gly144=) n.537G= | |
| 14 | g.23432710C>G | CA389052834 | MYH7 | c.431G>C (p.Gly144Ala) n.537G>C | |
| 14 | g.23432710C>T | CA014800 | MYH7 | c.431G>A (p.Gly144Asp) n.537G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432713del | CA2624252280 | MYH7 | c.431del (p.Gly144AlafsTer23) n.537del | gnomAD v4 |
| 14 | g.23432711C>A | CA389052835 | MYH7 | c.430G>T (p.Gly144Cys) n.536G>T | ClinVar |
| 14 | g.23432711C= | CA2123454200 | MYH7 | c.430G= (p.Gly144=) n.536G= | |
| 14 | g.23432711C>G | CA389052836 | MYH7 | c.430G>C (p.Gly144Arg) n.536G>C | |
| 14 | g.23432711C>T | CA257826579 | MYH7 | c.430G>A (p.Gly144Ser) n.536G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432712C>A | CA485626470 | MYH7 | c.429G>T (p.Arg143=) n.535G>T | |
| 14 | g.23432712C= | CA2123454211 | MYH7 | c.429G= (p.Arg143=) n.535G= | |
| 14 | g.23432712C>G | CA485626471 | MYH7 | c.429G>C (p.Arg143=) n.535G>C | |
| 14 | g.23432712C>T | CA485626472 | MYH7 | c.429G>A (p.Arg143=) n.535G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23432713C>A | CA389052837 | MYH7 | c.428G>T (p.Arg143Leu) n.534G>T | ClinVar dbSNP |
| 14 | g.23432713C= | CA2123454220 | MYH7 | c.428G= (p.Arg143=) n.534G= | |
| 14 | g.23432713C>G | CA389052838 | MYH7 | c.428G>C (p.Arg143Pro) n.534G>C | ClinVar dbSNP |
| 14 | g.23432713C>T | CA014774 | MYH7 | c.428G>A (p.Arg143Gln) n.534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432713_23432714delinsCG | CA2123454222 | MYH7 | c.427_428delinsCG (p.Arg143=) n.533_534delinsCG | |
| 14 | g.23432714G>A | CA014751 | MYH7 | c.427C>T (p.Arg143Trp) n.533C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432714G>C | CA257826585 | MYH7 | c.427C>G (p.Arg143Gly) n.533C>G | ClinVar dbSNP |
| 14 | g.23432714G= | CA2123454234 | MYH7 | c.427C= (p.Arg143=) n.533C= | |
| 14 | g.23432714G>T | CA485626473 | MYH7 | c.427C>A (p.Arg143=) n.533C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432715del | CA913188631 | MYH7 | c.427del (p.Arg143GlyfsTer24) n.533del | ClinVar dbSNP |
| 14 | g.23432715G>A | CA485626474 | MYH7 | c.426C>T (p.Tyr142=) n.532C>T | gnomAD v4 |
| 14 | g.23432715G>C | CA389052839 | MYH7 | c.426C>G (p.Tyr142Ter) n.532C>G | |
| 14 | g.23432715G>T | CA389052840 | MYH7 | c.426C>A (p.Tyr142Ter) n.532C>A | |
| 14 | g.23432716T>A | CA389052841 | MYH7 | c.425A>T (p.Tyr142Phe) n.531A>T | |
| 14 | g.23432716T>C | CA389052842 | MYH7 | c.425A>G (p.Tyr142Cys) n.531A>G | ClinVar |
| 14 | g.23432716T>G | CA389052843 | MYH7 | c.425A>C (p.Tyr142Ser) n.531A>C | |
| 14 | g.23432717A>C | CA389052844 | MYH7 | c.424T>G (p.Tyr142Asp) n.530T>G | |
| 14 | g.23432717A>G | CA389052845 | MYH7 | c.424T>C (p.Tyr142His) n.530T>C | |
| 14 | g.23432717A>T | CA389052846 | MYH7 | c.424T>A (p.Tyr142Asn) n.530T>A | |
| 14 | g.23432718G>A | CA485626476 | MYH7 | c.423C>T (p.Ala141=) n.529C>T | |
| 14 | g.23432718G>C | CA485626475 | MYH7 | c.423C>G (p.Ala141=) n.529C>G | |
| 14 | g.23432718G= | CA2123454236 | MYH7 | c.423C= (p.Ala141=) n.529C= | |
| 14 | g.23432718G>T | CA041366 | MYH7 | c.423C>A (p.Ala141=) n.529C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432719G>A | CA389052847 | MYH7 | c.422C>T (p.Ala141Val) n.528C>T | |
| 14 | g.23432719G>C | CA389052848 | MYH7 | c.422C>G (p.Ala141Gly) n.528C>G | |
| 14 | g.23432719G>T | CA389052849 | MYH7 | c.422C>A (p.Ala141Asp) n.528C>A | |
| 14 | g.23432720C>A | CA389052850 | MYH7 | c.421G>T (p.Ala141Ser) n.527G>T | |
| 14 | g.23432720C>G | CA389052851 | MYH7 | c.421G>C (p.Ala141Pro) n.527G>C | |
| 14 | g.23432720C>T | CA389052852 | MYH7 | c.421G>A (p.Ala141Thr) n.527G>A | |
| 14 | g.23432721A= | CA2123454240 | MYH7 | c.420T= (p.Ala140=) n.526T= | |
| 14 | g.23432721A>C | CA485626477 | MYH7 | c.420T>G (p.Ala140=) n.526T>G | |
| 14 | g.23432721A>G | CA485626479 | MYH7 | c.420T>C (p.Ala140=) n.526T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432721A>T | CA485626478 | MYH7 | c.420T>A (p.Ala140=) n.526T>A | |
| 14 | g.23432722G>A | CA389052853 | MYH7 | c.419C>T (p.Ala140Val) n.525C>T | |
| 14 | g.23432722G>C | CA389052854 | MYH7 | c.419C>G (p.Ala140Gly) n.525C>G | |
| 14 | g.23432722G>T | CA389052855 | MYH7 | c.419C>A (p.Ala140Asp) n.525C>A | |
| 14 | g.23432722_23432724del | CA2624252282 | MYH7 | c.417_419del (p.Ala140del) n.523_525del | gnomAD v4 |
| 14 | g.23432723C>A | CA389052856 | MYH7 | c.418G>T (p.Ala140Ser) n.524G>T | |
| 14 | g.23432723C>G | CA389052857 | MYH7 | c.418G>C (p.Ala140Pro) n.524G>C | |
| 14 | g.23432723C>T | CA389052858 | MYH7 | c.418G>A (p.Ala140Thr) n.524G>A | gnomAD v4 |
| 14 | g.23432724del | CA2573053881 | MYH7 | c.418del (p.Ala140LeufsTer27) n.524del | ClinVar dbSNP |
| 14 | g.23432724C>A | CA485626480 | MYH7 | c.417G>T (p.Val139=) n.523G>T | gnomAD v4 |
| 14 | g.23432724C>G | CA485626481 | MYH7 | c.417G>C (p.Val139=) n.523G>C | gnomAD v4 |
| 14 | g.23432724C>T | CA485626482 | MYH7 | c.417G>A (p.Val139=) n.523G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432725A>C | CA389052861 | MYH7 | c.416T>G (p.Val139Gly) n.522T>G | |
| 14 | g.23432725A>G | CA389052860 | MYH7 | c.416T>C (p.Val139Ala) n.522T>C | |
| 14 | g.23432725A>T | CA389052859 | MYH7 | c.416T>A (p.Val139Glu) n.522T>A | |
| 14 | g.23432726C>A | CA389052864 | MYH7 | c.415G>T (p.Val139Leu) n.521G>T | ClinVar dbSNP |
| 14 | g.23432726C>G | CA389052862 | MYH7 | c.415G>C (p.Val139Leu) n.521G>C | ClinVar |
| 14 | g.23432726C>T | CA389052863 | MYH7 | c.415G>A (p.Val139Met) n.521G>A | |
| 14 | g.23432727C>A | CA485626483 | MYH7 | c.414G>T (p.Val138=) n.520G>T | |
| 14 | g.23432727C>G | CA485626484 | MYH7 | c.414G>C (p.Val138=) n.520G>C | ClinVar gnomAD v4 |
| 14 | g.23432727C>T | CA485626485 | MYH7 | c.414G>A (p.Val138=) n.520G>A | |
| 14 | g.23432728A= | CA2123454244 | MYH7 | c.413T= (p.Val138=) n.519T= | |
| 14 | g.23432728A>C | CA389052865 | MYH7 | c.413T>G (p.Val138Gly) n.519T>G | dbSNP |
| 14 | g.23432728A>G | CA389052866 | MYH7 | c.413T>C (p.Val138Ala) n.519T>C | |
| 14 | g.23432728A>T | CA389052867 | MYH7 | c.413T>A (p.Val138Glu) n.519T>A | |
| 14 | g.23432728_23432731delinsACCT | CA2123454245 | MYH7 | c.410_413delinsAGGT (p.Glu137=) n.516_519delinsAGGT | |
| 14 | g.23432729C>A | CA389052868 | MYH7 | c.412G>T (p.Val138Leu) n.518G>T | |
| 14 | g.23432729C= | CA2123454250 | MYH7 | c.412G= (p.Val138=) n.518G= | |
| 14 | g.23432729C>G | CA389052869 | MYH7 | c.412G>C (p.Val138Leu) n.518G>C | |
| 14 | g.23432729C>T | CA389052870 | MYH7 | c.412G>A (p.Val138Met) n.518G>A | ClinVar dbSNP |
| 14 | g.23432730_23432732del | CA040425 | MYH7 | c.410_412del (p.Glu137del) n.516_518del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432730C>A | CA389052871 | MYH7 | c.411G>T (p.Glu137Asp) n.517G>T | |
| 14 | g.23432730C= | CA2123454255 | MYH7 | c.411G= (p.Glu137=) n.517G= | |
| 14 | g.23432730C>G | CA389052872 | MYH7 | c.411G>C (p.Glu137Asp) n.517G>C | gnomAD v4 |
| 14 | g.23432730C>T | CA257826597 | MYH7 | c.411G>A (p.Glu137=) n.517G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432731T>A | CA389052875 | MYH7 | c.410A>T (p.Glu137Val) n.516A>T | ClinVar dbSNP |
| 14 | g.23432731T>C | CA389052874 | MYH7 | c.410A>G (p.Glu137Gly) n.516A>G | ClinVar |
| 14 | g.23432731T>G | CA389052873 | MYH7 | c.410A>C (p.Glu137Ala) n.516A>C | |
| 14 | g.23432732C>A | CA389052876 | MYH7 | c.409G>T (p.Glu137Ter) n.515G>T | |
| 14 | g.23432732C= | CA2123454263 | MYH7 | c.409G= (p.Glu137=) n.515G= | |
| 14 | g.23432732C>G | CA389052877 | MYH7 | c.409G>C (p.Glu137Gln) n.515G>C | |
| 14 | g.23432732C>T | CA389052878 | MYH7 | c.409G>A (p.Glu137Lys) n.515G>A | dbSNP |
| 14 | g.23432733A>C | CA485626486 | MYH7 | c.408T>G (p.Pro136=) n.514T>G | |
| 14 | g.23432733A>G | CA485626487 | MYH7 | c.408T>C (p.Pro136=) n.514T>C | |
| 14 | g.23432733A>T | CA485626488 | MYH7 | c.408T>A (p.Pro136=) n.514T>A | |
| 14 | g.23432734G>A | CA389052879 | MYH7 | c.407C>T (p.Pro136Leu) n.513C>T | COSMIC |
| 14 | g.23432734G>C | CA389052880 | MYH7 | c.407C>G (p.Pro136Arg) n.513C>G | |
| 14 | g.23432734G>T | CA389052881 | MYH7 | c.407C>A (p.Pro136His) n.513C>A | |
| 14 | g.23432735G>A | CA389052882 | MYH7 | c.406C>T (p.Pro136Ser) n.512C>T | gnomAD v4 COSMIC |
| 14 | g.23432735G>C | CA389052883 | MYH7 | c.406C>G (p.Pro136Ala) n.512C>G | ClinVar dbSNP |
| 14 | g.23432735G>T | CA389052884 | MYH7 | c.406C>A (p.Pro136Thr) n.512C>A | |
| 14 | g.23432736A= | CA2123454266 | MYH7 | c.405T= (p.Thr135=) n.511T= | |
| 14 | g.23432736A>C | CA485626489 | MYH7 | c.405T>G (p.Thr135=) n.511T>G | |
| 14 | g.23432736A>G | CA485626490 | MYH7 | c.405T>C (p.Thr135=) n.511T>C | |
| 14 | g.23432736A>T | CA040209 | MYH7 | c.405T>A (p.Thr135=) n.511T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432737G>A | CA389052885 | MYH7 | c.404C>T (p.Thr135Ile) n.510C>T | |
| 14 | g.23432737G>C | CA389052886 | MYH7 | c.404C>G (p.Thr135Ser) n.510C>G | |
| 14 | g.23432737G= | CA2123454273 | MYH7 | c.404C= (p.Thr135=) n.510C= | |
| 14 | g.23432737G>T | CA389052887 | MYH7 | c.404C>A (p.Thr135Asn) n.510C>A | ClinVar dbSNP |
| 14 | g.23432738T>A | CA389052889 | MYH7 | c.403A>T (p.Thr135Ser) n.509A>T | |
| 14 | g.23432738T>C | CA389052890 | MYH7 | c.403A>G (p.Thr135Ala) n.509A>G | |
| 14 | g.23432738T>G | CA389052888 | MYH7 | c.403A>C (p.Thr135Pro) n.509A>C | |
| 14 | g.23432739G>A | CA485626491 | MYH7 | c.402C>T (p.Tyr134=) n.508C>T | |
| 14 | g.23432739G>C | CA389052891 | MYH7 | c.402C>G (p.Tyr134Ter) n.508C>G | |
| 14 | g.23432739G>T | CA389052892 | MYH7 | c.402C>A (p.Tyr134Ter) n.508C>A | |
| 14 | g.23432740T>A | CA389052893 | MYH7 | c.401A>T (p.Tyr134Phe) n.507A>T | |
| 14 | g.23432740T>C | CA389052894 | MYH7 | c.401A>G (p.Tyr134Cys) n.507A>G | |
| 14 | g.23432740T>G | CA389052895 | MYH7 | c.401A>C (p.Tyr134Ser) n.507A>C | |
| 14 | g.23432741A>C | CA389052896 | MYH7 | c.400T>G (p.Tyr134Asp) n.506T>G | |
| 14 | g.23432741A>G | CA389052897 | MYH7 | c.400T>C (p.Tyr134His) n.506T>C | |
| 14 | g.23432741A>T | CA389052898 | MYH7 | c.400T>A (p.Tyr134Asn) n.506T>A | |
| 14 | g.23432742C>A | CA485626492 | MYH7 | c.399G>T (p.Val133=) n.505G>T | |
| 14 | g.23432742C= | CA2123454284 | MYH7 | c.399G= (p.Val133=) n.505G= | |
| 14 | g.23432742C>G | CA485626493 | MYH7 | c.399G>C (p.Val133=) n.505G>C | |
| 14 | g.23432742C>T | CA485626494 | MYH7 | c.399G>A (p.Val133=) n.505G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432743A= | CA2123454287 | MYH7 | c.398T= (p.Val133=) n.504T= | |
| 14 | g.23432743A>C | CA389052899 | MYH7 | c.398T>G (p.Val133Gly) n.504T>G | dbSNP |
| 14 | g.23432743A>G | CA389052900 | MYH7 | c.398T>C (p.Val133Ala) n.504T>C | |
| 14 | g.23432743A>T | CA389052901 | MYH7 | c.398T>A (p.Val133Glu) n.504T>A | |
| 14 | g.23432744C>A | CA389052902 | MYH7 | c.397G>T (p.Val133Leu) n.503G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432744C= | CA2123454290 | MYH7 | c.397G= (p.Val133=) n.503G= | |
| 14 | g.23432744C>G | CA389052903 | MYH7 | c.397G>C (p.Val133Leu) n.503G>C | gnomAD v4 |
| 14 | g.23432744C>T | CA039833 | MYH7 | c.397G>A (p.Val133Met) n.503G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432745C>A | CA014261 | MYH7 | c.396G>T (p.Pro132=) n.502G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432745C= | CA2123454294 | MYH7 | c.396G= (p.Pro132=) n.502G= | |
| 14 | g.23432745C>G | CA485626495 | MYH7 | c.396G>C (p.Pro132=) n.502G>C | dbSNP gnomAD v2 |
| 14 | g.23432745C>T | CA039531 | MYH7 | c.396G>A (p.Pro132=) n.502G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432746G>A | CA389052904 | MYH7 | c.395C>T (p.Pro132Leu) n.501C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23432746G>C | CA389052905 | MYH7 | c.395C>G (p.Pro132Arg) n.501C>G | |
| 14 | g.23432746G>T | CA389052906 | MYH7 | c.395C>A (p.Pro132Gln) n.501C>A | |
| 14 | g.23432747G>A | CA389052907 | MYH7 | c.394C>T (p.Pro132Ser) n.500C>T | |
| 14 | g.23432747G>C | CA389052908 | MYH7 | c.394C>G (p.Pro132Ala) n.500C>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432747G= | CA2123454299 | MYH7 | c.394C= (p.Pro132=) n.500C= | |
| 14 | g.23432747G>T | CA389052909 | MYH7 | c.394C>A (p.Pro132Thr) n.500C>A | |
| 14 | g.23432748C>A | CA485626496 | MYH7 | c.393G>T (p.Leu131=) n.499G>T | ClinVar dbSNP |
| 14 | g.23432748C>G | CA485626498 | MYH7 | c.393G>C (p.Leu131=) n.499G>C | |
| 14 | g.23432748C>T | CA485626497 | MYH7 | c.393G>A (p.Leu131=) n.499G>A | |
| 14 | g.23432749A>C | CA389052910 | MYH7 | c.392T>G (p.Leu131Arg) n.498T>G | |
| 14 | g.23432749A>G | CA389052911 | MYH7 | c.392T>C (p.Leu131Pro) n.498T>C | |
| 14 | g.23432749A>T | CA389052912 | MYH7 | c.392T>A (p.Leu131Gln) n.498T>A | |
| 14 | g.23432750G>A | CA485626499 | MYH7 | c.391C>T (p.Leu131=) n.497C>T | |
| 14 | g.23432750G>C | CA389052913 | MYH7 | c.391C>G (p.Leu131Val) n.497C>G | dbSNP gnomAD v4 |
| 14 | g.23432750G= | CA2123454318 | MYH7 | c.391C= (p.Leu131=) n.497C= | |
| 14 | g.23432750G>T | CA389052914 | MYH7 | c.391C>A (p.Leu131Met) n.497C>A | |
| 14 | g.23432751C>A | CA389052916 | MYH7 | c.390G>T (p.Trp130Cys) n.496G>T | |
| 14 | g.23432751C>G | CA389052917 | MYH7 | c.390G>C (p.Trp130Cys) n.496G>C | |
| 14 | g.23432751C>T | CA389052915 | MYH7 | c.390G>A (p.Trp130Ter) n.496G>A | |
| 14 | g.23432752C>A | CA389052918 | MYH7 | c.389G>T (p.Trp130Leu) n.495G>T | |
| 14 | g.23432752C>G | CA389052919 | MYH7 | c.389G>C (p.Trp130Ser) n.495G>C | |
| 14 | g.23432752C>T | CA389052920 | MYH7 | c.389G>A (p.Trp130Ter) n.495G>A | |
| 14 | g.23432753A>C | CA389052921 | MYH7 | c.388T>G (p.Trp130Gly) n.494T>G | |
| 14 | g.23432753A>G | CA389052922 | MYH7 | c.388T>C (p.Trp130Arg) n.494T>C | gnomAD v4 |
| 14 | g.23432753A>T | CA389052923 | MYH7 | c.388T>A (p.Trp130Arg) n.494T>A | |
| 14 | g.23432754C>A | CA389052924 | MYH7 | c.387G>T (p.Lys129Asn) n.493G>T | |
| 14 | g.23432754C>G | CA389052925 | MYH7 | c.387G>C (p.Lys129Asn) n.493G>C | |
| 14 | g.23432754C>T | CA485626501 | MYH7 | c.387G>A (p.Lys129=) n.493G>A | |
| 14 | g.23432755T>A | CA389052926 | MYH7 | c.386A>T (p.Lys129Met) n.492A>T | |
| 14 | g.23432755T>C | CA389052927 | MYH7 | c.386A>G (p.Lys129Arg) n.492A>G | |
| 14 | g.23432755T>G | CA389052928 | MYH7 | c.386A>C (p.Lys129Thr) n.492A>C | |
| 14 | g.23432756T>A | CA389052929 | MYH7 | c.385A>T (p.Lys129Ter) n.491A>T | |
| 14 | g.23432756T>C | CA389052930 | MYH7 | c.385A>G (p.Lys129Glu) n.491A>G | gnomAD v4 |
| 14 | g.23432756T>G | CA389052931 | MYH7 | c.385A>C (p.Lys129Gln) n.491A>C | |
| 14 | g.23432757G>A | CA485626502 | MYH7 | c.384C>T (p.Tyr128=) n.490C>T | |
| 14 | g.23432757G>C | CA389052932 | MYH7 | c.384C>G (p.Tyr128Ter) n.490C>G | |
| 14 | g.23432757G>T | CA389052933 | MYH7 | c.384C>A (p.Tyr128Ter) n.490C>A | gnomAD v4 |
| 14 | g.23432758T>A | CA389052934 | MYH7 | c.383A>T (p.Tyr128Phe) n.489A>T | |
| 14 | g.23432758T>C | CA389052935 | MYH7 | c.383A>G (p.Tyr128Cys) n.489A>G | COSMIC |
| 14 | g.23432758T>G | CA389052936 | MYH7 | c.383A>C (p.Tyr128Ser) n.489A>C | |
| 14 | g.23432759A>C | CA389052937 | MYH7 | c.382T>G (p.Tyr128Asp) n.488T>G | |
| 14 | g.23432759A>G | CA389052938 | MYH7 | c.382T>C (p.Tyr128His) n.488T>C | |
| 14 | g.23432759A>T | CA389052939 | MYH7 | c.382T>A (p.Tyr128Asn) n.488T>A | |
| 14 | g.23432760A= | CA2123454323 | MYH7 | c.381T= (p.Pro127=) n.487T= | |
| 14 | g.23432760A>C | CA485626503 | MYH7 | c.381T>G (p.Pro127=) n.487T>G | |
| 14 | g.23432760A>G | CA485626504 | MYH7 | c.381T>C (p.Pro127=) n.487T>C | dbSNP |
| 14 | g.23432760A>T | CA485626505 | MYH7 | c.381T>A (p.Pro127=) n.487T>A | |
| 14 | g.23432761G>A | CA389052940 | MYH7 | c.380C>T (p.Pro127Leu) n.486C>T | ClinVar |
| 14 | g.23432761G>C | CA389052941 | MYH7 | c.380C>G (p.Pro127Arg) n.486C>G | |
| 14 | g.23432761G>T | CA389052942 | MYH7 | c.380C>A (p.Pro127His) n.486C>A | |
| 14 | g.23432762G>A | CA389052943 | MYH7 | c.379C>T (p.Pro127Ser) n.485C>T | gnomAD v4 |
| 14 | g.23432762G>C | CA389052944 | MYH7 | c.379C>G (p.Pro127Ala) n.485C>G | |
| 14 | g.23432762G>T | CA389052945 | MYH7 | c.379C>A (p.Pro127Thr) n.485C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432763G>A | CA038926 | MYH7 | c.378C>T (p.Asn126=) n.484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432763G>C | CA389052947 | MYH7 | c.378C>G (p.Asn126Lys) n.484C>G | gnomAD v4 |
| 14 | g.23432763G= | CA2123454326 | MYH7 | c.378C= (p.Asn126=) n.484C= | |
| 14 | g.23432763G>T | CA389052946 | MYH7 | c.378C>A (p.Asn126Lys) n.484C>A | |
| 14 | g.23432764T>A | CA389052948 | MYH7 | c.377A>T (p.Asn126Ile) n.483A>T | |
| 14 | g.23432764T>C | CA389052950 | MYH7 | c.377A>G (p.Asn126Ser) n.483A>G | |
| 14 | g.23432764T>G | CA389052949 | MYH7 | c.377A>C (p.Asn126Thr) n.483A>C | dbSNP |
| 14 | g.23432764T= | CA2123454327 | MYH7 | c.377A= (p.Asn126=) n.483A= | |
| 14 | g.23432765T>A | CA389052951 | MYH7 | c.376A>T (p.Asn126Tyr) n.482A>T | |
| 14 | g.23432765T>C | CA389052952 | MYH7 | c.376A>G (p.Asn126Asp) n.482A>G | |
| 14 | g.23432765T>G | CA389052953 | MYH7 | c.376A>C (p.Asn126His) n.482A>C | |
| 14 | g.23432766G>A | CA485626506 | MYH7 | c.375C>T (p.Val125=) n.481C>T | gnomAD v4 |
| 14 | g.23432766G>C | CA485626507 | MYH7 | c.375C>G (p.Val125=) n.481C>G | |
| 14 | g.23432766G>T | CA485626508 | MYH7 | c.375C>A (p.Val125=) n.481C>A | |
| 14 | g.23432767A>C | CA389052954 | MYH7 | c.374T>G (p.Val125Gly) n.480T>G | |
| 14 | g.23432767A>G | CA389052955 | MYH7 | c.374T>C (p.Val125Ala) n.480T>C | gnomAD v4 |
| 14 | g.23432767A>T | CA389052956 | MYH7 | c.374T>A (p.Val125Asp) n.480T>A | ClinVar |
| 14 | g.23432768C>A | CA014028 | MYH7 | c.373G>T (p.Val125Phe) n.479G>T | ClinVar dbSNP |
| 14 | g.23432768C= | CA2123454332 | MYH7 | c.373G= (p.Val125=) n.479G= | |
| 14 | g.23432768C>G | CA389052957 | MYH7 | c.373G>C (p.Val125Leu) n.479G>C | |
| 14 | g.23432768C>T | CA014018 | MYH7 | c.373G>A (p.Val125Ile) n.479G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23432769G>A | CA038674 | MYH7 | c.372C>T (p.Thr124=) n.478C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432769G>C | CA485626509 | MYH7 | c.372C>G (p.Thr124=) n.478C>G | |
| 14 | g.23432769G= | CA2123454337 | MYH7 | c.372C= (p.Thr124=) n.478C= | |
| 14 | g.23432769G>T | CA485626510 | MYH7 | c.372C>A (p.Thr124=) n.478C>A | |
| 14 | g.23432770G>A | CA389052958 | MYH7 | c.371C>T (p.Thr124Ile) n.477C>T | dbSNP |
| 14 | g.23432770G>C | CA389052959 | MYH7 | c.371C>G (p.Thr124Ser) n.477C>G | |
| 14 | g.23432770G= | CA2123454339 | MYH7 | c.371C= (p.Thr124=) n.477C= | |
| 14 | g.23432770G>T | CA389052960 | MYH7 | c.371C>A (p.Thr124Asn) n.477C>A | |
| 14 | g.23432771T>A | CA389052963 | MYH7 | c.370A>T (p.Thr124Ser) n.476A>T | |
| 14 | g.23432771T>C | CA389052962 | MYH7 | c.370A>G (p.Thr124Ala) n.476A>G | |
| 14 | g.23432771T>G | CA389052961 | MYH7 | c.370A>C (p.Thr124Pro) n.476A>C | dbSNP |
| 14 | g.23432771T= | CA2123454342 | MYH7 | c.370A= (p.Thr124=) n.476A= | |
| 14 | g.23432772G>A | CA485626511 | MYH7 | c.369C>T (p.Val123=) n.475C>T | |
| 14 | g.23432772G>C | CA485626512 | MYH7 | c.369C>G (p.Val123=) n.475C>G | |
| 14 | g.23432772G>T | CA485626513 | MYH7 | c.369C>A (p.Val123=) n.475C>A | |
| 14 | g.23432773A>C | CA389052964 | MYH7 | c.368T>G (p.Val123Gly) n.474T>G | |
| 14 | g.23432773A>G | CA389052965 | MYH7 | c.368T>C (p.Val123Ala) n.474T>C | |
| 14 | g.23432773A>T | CA389052966 | MYH7 | c.368T>A (p.Val123Asp) n.474T>A | |
| 14 | g.23432774C>A | CA389052967 | MYH7 | c.367G>T (p.Val123Phe) n.473G>T | |
| 14 | g.23432774C>G | CA389052968 | MYH7 | c.367G>C (p.Val123Leu) n.473G>C | |
| 14 | g.23432774C>T | CA389052969 | MYH7 | c.367G>A (p.Val123Ile) n.473G>A | |
| 14 | g.23432775A= | CA2123454348 | MYH7 | c.366T= (p.Cys122=) n.472T= | |
| 14 | g.23432775A>C | CA389052970 | MYH7 | c.366T>G (p.Cys122Trp) n.472T>G | |
| 14 | g.23432775A>G | CA485626514 | MYH7 | c.366T>C (p.Cys122=) n.472T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432775A>T | CA389052971 | MYH7 | c.366T>A (p.Cys122Ter) n.472T>A | |
| 14 | g.23432776C>A | CA389052972 | MYH7 | c.365G>T (p.Cys122Phe) n.471G>T | |
| 14 | g.23432776C= | CA2123454353 | MYH7 | c.365G= (p.Cys122=) n.471G= | |
| 14 | g.23432776C>G | CA389052973 | MYH7 | c.365G>C (p.Cys122Ser) n.471G>C | |
| 14 | g.23432776C>T | CA389052974 | MYH7 | c.365G>A (p.Cys122Tyr) n.471G>A | dbSNP gnomAD v4 |
| 14 | g.23432777A>C | CA389052975 | MYH7 | c.364T>G (p.Cys122Gly) n.470T>G | |
| 14 | g.23432777A>G | CA389052976 | MYH7 | c.364T>C (p.Cys122Arg) n.470T>C | |
| 14 | g.23432777A>T | CA389052977 | MYH7 | c.364T>A (p.Cys122Ser) n.470T>A | COSMIC |
| 14 | g.23432778G>A | CA038240 | MYH7 | c.363C>T (p.Phe121=) n.469C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432778G>C | CA389052979 | MYH7 | c.363C>G (p.Phe121Leu) n.469C>G | ClinVar dbSNP |
| 14 | g.23432778G= | CA2123454359 | MYH7 | c.363C= (p.Phe121=) n.469C= | |
| 14 | g.23432778G>T | CA389052978 | MYH7 | c.363C>A (p.Phe121Leu) n.469C>A | |
| 14 | g.23432779A>C | CA389052980 | MYH7 | c.362T>G (p.Phe121Cys) n.468T>G | |
| 14 | g.23432779A>G | CA389052981 | MYH7 | c.362T>C (p.Phe121Ser) n.468T>C | |
| 14 | g.23432779A>T | CA389052982 | MYH7 | c.362T>A (p.Phe121Tyr) n.468T>A | |
| 14 | g.23432780A>C | CA389052983 | MYH7 | c.361T>G (p.Phe121Val) n.467T>G | |
| 14 | g.23432780A>G | CA389052984 | MYH7 | c.361T>C (p.Phe121Leu) n.467T>C | |
| 14 | g.23432780A>T | CA389052985 | MYH7 | c.361T>A (p.Phe121Ile) n.467T>A | |
| 14 | g.23432781G>A | CA485626515 | MYH7 | c.360C>T (p.Leu120=) n.466C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432781G>C | CA485626516 | MYH7 | c.360C>G (p.Leu120=) n.466C>G | |
| 14 | g.23432781G= | CA2123454372 | MYH7 | c.360C= (p.Leu120=) n.466C= | |
| 14 | g.23432781G>T | CA485626517 | MYH7 | c.360C>A (p.Leu120=) n.466C>A | |
| 14 | g.23432782A>C | CA389052986 | MYH7 | c.359T>G (p.Leu120Arg) n.465T>G | |
| 14 | g.23432782A>G | CA389052987 | MYH7 | c.359T>C (p.Leu120Pro) n.465T>C | |
| 14 | g.23432782A>T | CA389052988 | MYH7 | c.359T>A (p.Leu120His) n.465T>A | |
| 14 | g.23432783G>A | CA389052989 | MYH7 | c.358C>T (p.Leu120Phe) n.464C>T | ClinVar |
| 14 | g.23432783G>C | CA389052990 | MYH7 | c.358C>G (p.Leu120Val) n.464C>G | |
| 14 | g.23432783G>T | CA389052991 | MYH7 | c.358C>A (p.Leu120Ile) n.464C>A | |
| 14 | g.23432784G>A | CA485626520 | MYH7 | c.357C>T (p.Gly119=) n.463C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432784G>C | CA485626519 | MYH7 | c.357C>G (p.Gly119=) n.463C>G | |
| 14 | g.23432784G= | CA2123454374 | MYH7 | c.357C= (p.Gly119=) n.463C= | |
| 14 | g.23432784G>T | CA485626518 | MYH7 | c.357C>A (p.Gly119=) n.463C>A | |
| 14 | g.23432785C>A | CA389052994 | MYH7 | c.356G>T (p.Gly119Val) n.462G>T | ClinVar |
| 14 | g.23432785C>G | CA389052993 | MYH7 | c.356G>C (p.Gly119Ala) n.462G>C | |
| 14 | g.23432785C>T | CA389052992 | MYH7 | c.356G>A (p.Gly119Asp) n.462G>A | |
| 14 | g.23432786C>A | CA389052995 | MYH7 | c.355G>T (p.Gly119Cys) n.461G>T | |
| 14 | g.23432786C>G | CA389052996 | MYH7 | c.355G>C (p.Gly119Arg) n.461G>C | |
| 14 | g.23432786C>T | CA389052997 | MYH7 | c.355G>A (p.Gly119Ser) n.461G>A | |
| 14 | g.23432787C>A | CA485626521 | MYH7 | c.354G>T (p.Ser118=) n.460G>T | |
| 14 | g.23432787C= | CA2123454378 | MYH7 | c.354G= (p.Ser118=) n.460G= | |
| 14 | g.23432787C>G | CA485626522 | MYH7 | c.354G>C (p.Ser118=) n.460G>C | ClinVar dbSNP |
| 14 | g.23432787C>T | CA037812 | MYH7 | c.354G>A (p.Ser118=) n.460G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432788G>A | CA389052998 | MYH7 | c.353C>T (p.Ser118Leu) n.459C>T | ClinVar gnomAD v4 |
| 14 | g.23432788G>C | CA389052999 | MYH7 | c.353C>G (p.Ser118Trp) n.459C>G | gnomAD v4 |
| 14 | g.23432788G= | CA2123454379 | MYH7 | c.353C= (p.Ser118=) n.459C= | |
| 14 | g.23432788G>T | CA389053000 | MYH7 | c.353C>A (p.Ser118Ter) n.459C>A | ClinVar dbSNP |
| 14 | g.23432789A>C | CA389053001 | MYH7 | c.352T>G (p.Ser118Ala) n.458T>G | |
| 14 | g.23432789A>G | CA389053002 | MYH7 | c.352T>C (p.Ser118Pro) n.458T>C | |
| 14 | g.23432789A>T | CA389053003 | MYH7 | c.352T>A (p.Ser118Thr) n.458T>A | |
| 14 | g.23432790G>A | CA485626523 | MYH7 | c.351C>T (p.Tyr117=) n.457C>T | gnomAD v4 |
| 14 | g.23432790G>C | CA389053004 | MYH7 | c.351C>G (p.Tyr117Ter) n.457C>G | |
| 14 | g.23432790G>T | CA389053005 | MYH7 | c.351C>A (p.Tyr117Ter) n.457C>A | |
| 14 | g.23432791T>A | CA013791 | MYH7 | c.350A>T (p.Tyr117Phe) n.456A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432791T>C | CA389053007 | MYH7 | c.350A>G (p.Tyr117Cys) n.456A>G | gnomAD v4 |
| 14 | g.23432791T>G | CA389053006 | MYH7 | c.350A>C (p.Tyr117Ser) n.456A>C | |
| 14 | g.23432791T= | CA2123454382 | MYH7 | c.350A= (p.Tyr117=) n.456A= | |
| 14 | g.23432792A>C | CA389053008 | MYH7 | c.349T>G (p.Tyr117Asp) n.455T>G | |
| 14 | g.23432792A>G | CA389053010 | MYH7 | c.349T>C (p.Tyr117His) n.455T>C | |
| 14 | g.23432792A>T | CA389053009 | MYH7 | c.349T>A (p.Tyr117Asn) n.455T>A | |
| 14 | g.23432793G>A | CA485626524 | MYH7 | c.348C>T (p.Thr116=) n.454C>T | |
| 14 | g.23432793G>C | CA485626525 | MYH7 | c.348C>G (p.Thr116=) n.454C>G | |
| 14 | g.23432793G>T | CA485626526 | MYH7 | c.348C>A (p.Thr116=) n.454C>A | |
| 14 | g.23432794G>A | CA389053011 | MYH7 | c.347C>T (p.Thr116Ile) n.453C>T | |
| 14 | g.23432794G>C | CA389053012 | MYH7 | c.347C>G (p.Thr116Ser) n.453C>G | |
| 14 | g.23432794G>T | CA389053013 | MYH7 | c.347C>A (p.Thr116Asn) n.453C>A | |
| 14 | g.23432795T>A | CA389053014 | MYH7 | c.346A>T (p.Thr116Ser) n.452A>T | gnomAD v4 |
| 14 | g.23432795T>C | CA389053015 | MYH7 | c.346A>G (p.Thr116Ala) n.452A>G | |
| 14 | g.23432795T>G | CA389053016 | MYH7 | c.346A>C (p.Thr116Pro) n.452A>C | dbSNP |
| 14 | g.23432795T= | CA2123454384 | MYH7 | c.346A= (p.Thr116=) n.452A= | |
| 14 | g.23432795_23432796insGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTC | CA2800875386 | MYH7 | c.346-1_346insGACATGGCCATGCTGACCTTCCTGCATGAGCCCGCGGTGCTCTACAACCTCAAGGATCGCTACGGCTCCTGGATGATCTAC (n.346-1_346insGACATGGCCATGCTGACCTTCCTGCATGAGCCCGCGGTGCTCTACAACCTCAAGGATCGCTACGGCTCCTGGATGATCTAC) n.452-1_452insGACATGGCCATGCTGACCTTCCTGCATGAGCCCGCGGTGCTCTACAACCTCAAGGATCGCTACGGCTCCTGGATGATCTAC | |
| 14 | g.23432796C>A | CA389053017 | MYH7 | c.346-1G>T (n.346-1G>T) n.452-1G>T | |
| 14 | g.23432796C= | CA2123454389 | MYH7 | c.346-1G= (n.346-1G=) n.452-1G= | |
| 14 | g.23432796C>G | CA389053018 | MYH7 | c.346-1G>C (n.346-1G>C) n.452-1G>C | |
| 14 | g.23432796C>T | CA16043870 | MYH7 | c.346-1G>A (n.346-1G>A) n.452-1G>A | ClinVar dbSNP |
| 14 | g.23432797T>A | CA389053019 | MYH7 | c.346-2A>T (n.346-2A>T) n.452-2A>T | ClinVar |
| 14 | g.23432797T>C | CA389053020 | MYH7 | c.346-2A>G (n.346-2A>G) n.452-2A>G | |
| 14 | g.23432797T>G | CA389053021 | MYH7 | c.346-2A>C (n.346-2A>C) n.452-2A>C | |
| 14 | g.23432799G>C | CA613318119 | MYH7 | c.346-4C>G (n.346-4C>G) n.452-4C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432799G= | CA2123454392 | MYH7 | c.346-4C= (n.346-4C=) n.452-4C= | |
| 14 | g.23432800G>A | CA2123454396 | MYH7 | c.346-5C>T (n.346-5C>T) n.452-5C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432800G= | CA2123454395 | MYH7 | c.346-5C= (n.346-5C=) n.452-5C= | |
| 14 | g.23432801G>A | CA704270160 | MYH7 | c.346-6C>T (n.346-6C>T) n.452-6C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432801G>C | CA613318120 | MYH7 | c.346-6C>G (n.346-6C>G) n.452-6C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432801G= | CA2123454402 | MYH7 | c.346-6C= (n.346-6C=) n.452-6C= | |
| 14 | g.23432801G>T | CA2624252434 | MYH7 | c.346-6C>A (n.346-6C>A) n.452-6C>A | gnomAD v4 |
| 14 | g.23432802A>G | CA2695219140 | MYH7 | c.346-7T>C (n.346-7T>C) n.452-7T>C | |
| 14 | g.23432804A= | CA2123454407 | MYH7 | c.346-9T= (n.346-9T=) n.452-9T= | |
| 14 | g.23432804A>G | CA257826610 | MYH7 | c.346-9T>C (n.346-9T>C) n.452-9T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432804_23432810delinsAGAAAAG | CA2123454409 | MYH7 | c.346-15_346-9delinsCTTTTCT (n.346-15_346-9delinsCTTTTCT) n.452-15_452-9delinsCTTTTCT | |
| 14 | g.23432807_23432812del | CA1139663382 | MYH7 | c.346-15_346-10del (n.346-15_346-10del) n.452-15_452-10del | ClinVar dbSNP gnomAD v4 |