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.23415068T>A | CA389035165 | MYH7 | c.5486A>T (p.Glu1829Val) | |
| 14 | g.23415068T>C | CA389035167 | MYH7 | c.5486A>G (p.Glu1829Gly) | |
| 14 | g.23415068T>G | CA389035169 | MYH7 | c.5486A>C (p.Glu1829Ala) | |
| 14 | g.23415069C>A | CA389035172 | MYH7 | c.5485G>T (p.Glu1829Ter) | |
| 14 | g.23415069C= | CA2123461794 | MYH7 | c.5485G= (p.Glu1829=) | |
| 14 | g.23415069C>G | CA389035175 | MYH7 | c.5485G>C (p.Glu1829Gln) | |
| 14 | g.23415069C>T | CA046922 | MYH7 | c.5485G>A (p.Glu1829Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415070G>A | CA046907 | MYH7 | c.5484C>T (p.Ala1828=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415070G>C | CA485765924 | MYH7 | c.5484C>G (p.Ala1828=) | gnomAD v4 |
| 14 | g.23415070G= | CA2123461809 | MYH7 | c.5484C= (p.Ala1828=) | |
| 14 | g.23415070G>T | CA485765925 | MYH7 | c.5484C>A (p.Ala1828=) | dbSNP |
| 14 | g.23415071G>A | CA389035180 | MYH7 | c.5483C>T (p.Ala1828Val) | |
| 14 | g.23415071G>C | CA389035182 | MYH7 | c.5483C>G (p.Ala1828Gly) | |
| 14 | g.23415071G>T | CA389035185 | MYH7 | c.5483C>A (p.Ala1828Asp) | gnomAD v4 |
| 14 | g.23415072C>A | CA389035188 | MYH7 | c.5482G>T (p.Ala1828Ser) | ClinVar gnomAD v4 |
| 14 | g.23415072C= | CA2123461817 | MYH7 | c.5482G= (p.Ala1828=) | |
| 14 | g.23415072C>G | CA389035190 | MYH7 | c.5482G>C (p.Ala1828Pro) | |
| 14 | g.23415072C>T | CA10639965 | MYH7 | c.5482G>A (p.Ala1828Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415073C>A | CA389035198 | MYH7 | c.5481G>T (p.Glu1827Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415073C= | CA2123461823 | MYH7 | c.5481G= (p.Glu1827=) | |
| 14 | g.23415073C>G | CA389035195 | MYH7 | c.5481G>C (p.Glu1827Asp) | dbSNP |
| 14 | g.23415073C>T | CA046896 | MYH7 | c.5481G>A (p.Glu1827=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415082_23415093del | CA2624231769 | MYH7 | c.5470_5481del (p.Asn1824_Glu1827del) | gnomAD v4 |
| 14 | g.23415074T>A | CA389035201 | MYH7 | c.5480A>T (p.Glu1827Val) | |
| 14 | g.23415074T>C | CA389035203 | MYH7 | c.5480A>G (p.Glu1827Gly) | |
| 14 | g.23415074T>G | CA389035205 | MYH7 | c.5480A>C (p.Glu1827Ala) | |
| 14 | g.23415075C>A | CA389035208 | MYH7 | c.5479G>T (p.Glu1827Ter) | |
| 14 | g.23415075C>G | CA389035210 | MYH7 | c.5479G>C (p.Glu1827Gln) | gnomAD v4 |
| 14 | g.23415075C>T | CA389035212 | MYH7 | c.5479G>A (p.Glu1827Lys) | COSMIC |
| 14 | g.23415076C>A | CA485765927 | MYH7 | c.5478G>T (p.Leu1826=) | |
| 14 | g.23415076C>G | CA485765928 | MYH7 | c.5478G>C (p.Leu1826=) | |
| 14 | g.23415076C>T | CA485765929 | MYH7 | c.5478G>A (p.Leu1826=) | |
| 14 | g.23415077A>C | CA389035215 | MYH7 | c.5477T>G (p.Leu1826Arg) | |
| 14 | g.23415077A>G | CA389035217 | MYH7 | c.5477T>C (p.Leu1826Pro) | |
| 14 | g.23415077A>T | CA389035219 | MYH7 | c.5477T>A (p.Leu1826Gln) | |
| 14 | g.23415078G>A | CA485765930 | MYH7 | c.5476C>T (p.Leu1826=) | |
| 14 | g.23415078G>C | CA389035222 | MYH7 | c.5476C>G (p.Leu1826Val) | |
| 14 | g.23415078G>T | CA389035224 | MYH7 | c.5476C>A (p.Leu1826Met) | gnomAD v4 |
| 14 | g.23415079C>A | CA389035226 | MYH7 | c.5475G>T (p.Glu1825Asp) | ClinVar dbSNP |
| 14 | g.23415079C= | CA2123461835 | MYH7 | c.5475G= (p.Glu1825=) | |
| 14 | g.23415079C>G | CA389035228 | MYH7 | c.5475G>C (p.Glu1825Asp) | gnomAD v2 gnomAD v4 |
| 14 | g.23415079C>T | CA485765932 | MYH7 | c.5475G>A (p.Glu1825=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415080T>A | CA389035235 | MYH7 | c.5474A>T (p.Glu1825Val) | |
| 14 | g.23415080T>C | CA389035233 | MYH7 | c.5474A>G (p.Glu1825Gly) | |
| 14 | g.23415080T>G | CA389035231 | MYH7 | c.5474A>C (p.Glu1825Ala) | |
| 14 | g.23415081C>A | CA389035241 | MYH7 | c.5473G>T (p.Glu1825Ter) | |
| 14 | g.23415081C>G | CA389035239 | MYH7 | c.5473G>C (p.Glu1825Gln) | COSMIC |
| 14 | g.23415081C>T | CA389035243 | MYH7 | c.5473G>A (p.Glu1825Lys) | |
| 14 | g.23415082A= | CA2123461840 | MYH7 | c.5472T= (p.Asn1824=) | |
| 14 | g.23415082A>C | CA389035246 | MYH7 | c.5472T>G (p.Asn1824Lys) | gnomAD v4 |
| 14 | g.23415082A>G | CA485765933 | MYH7 | c.5472T>C (p.Asn1824=) | dbSNP gnomAD v4 |
| 14 | g.23415082A>T | CA389035248 | MYH7 | c.5472T>A (p.Asn1824Lys) | |
| 14 | g.23415082_23415084delinsATT | CA2123461838 | MYH7 | c.5470_5472delinsAAT (p.Asn1824=) | |
| 14 | g.23415083T>A | CA389035251 | MYH7 | c.5471A>T (p.Asn1824Ile) | |
| 14 | g.23415083T>C | CA046887 | MYH7 | c.5471A>G (p.Asn1824Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415083T>G | CA389035255 | MYH7 | c.5471A>C (p.Asn1824Thr) | |
| 14 | g.23415083T= | CA2123461858 | MYH7 | c.5471A= (p.Asn1824=) | |
| 14 | g.23415083_23415084del | CA613317628 | MYH7 | c.5470_5471del (p.Asn1824Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415083_23415084delinsCA | CA2695219050 | MYH7 | c.5470_5471delinsTG (p.Asn1824Cys) | |
| 14 | g.23415083_23415084delinsCC | CA913188616 | MYH7 | c.5470_5471delinsGG (p.Asn1824Gly) | ClinVar dbSNP |
| 14 | g.23415083_23415084delinsTT | CA2123461864 | MYH7 | c.5470_5471delinsAA (p.Asn1824=) | |
| 14 | g.23415083_23415085delinsCAT | CA16609761 | MYH7 | c.5469_5471delinsATG (p.Asn1824Cys) | ClinVar dbSNP |
| 14 | g.23415083_23415085delinsTTC | CA2123461870 | MYH7 | c.5469_5471delinsGAA (p.Glu1823=) | |
| 14 | g.23415084T>A | CA389035257 | MYH7 | c.5470A>T (p.Asn1824Tyr) | dbSNP |
| 14 | g.23415084T>C | CA046876 | MYH7 | c.5470A>G (p.Asn1824Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415084T>G | CA389035259 | MYH7 | c.5470A>C (p.Asn1824His) | |
| 14 | g.23415084T= | CA2123461888 | MYH7 | c.5470A= (p.Asn1824=) | |
| 14 | g.23415085C>A | CA389035263 | MYH7 | c.5469G>T (p.Glu1823Asp) | COSMIC |
| 14 | g.23415085C= | CA2123461895 | MYH7 | c.5469G= (p.Glu1823=) | |
| 14 | g.23415085C>G | CA389035260 | MYH7 | c.5469G>C (p.Glu1823Asp) | |
| 14 | g.23415085C>T | CA485765942 | MYH7 | c.5469G>A (p.Glu1823=) | dbSNP |
| 14 | g.23415085_23415086insAT | CA613317629 | MYH7 | c.5468_5469insAT (p.Asn1824Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415086T>A | CA389035265 | MYH7 | c.5468A>T (p.Glu1823Val) | |
| 14 | g.23415086T>C | CA389035267 | MYH7 | c.5468A>G (p.Glu1823Gly) | |
| 14 | g.23415086T>G | CA389035269 | MYH7 | c.5468A>C (p.Glu1823Ala) | |
| 14 | g.23415087C>A | CA389035272 | MYH7 | c.5467G>T (p.Glu1823Ter) | |
| 14 | g.23415087C= | CA2123461905 | MYH7 | c.5467G= (p.Glu1823=) | |
| 14 | g.23415087C>G | CA046860 | MYH7 | c.5467G>C (p.Glu1823Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415087C>T | CA389035275 | MYH7 | c.5467G>A (p.Glu1823Lys) | gnomAD v4 COSMIC |
| 14 | g.23415089_23415101del | CA2580610817 | MYH7 | c.5455_5467del (p.Val1819ArgfsTer15) | |
| 14 | g.23415088C>A | CA485765953 | MYH7 | c.5466G>T (p.Leu1822=) | |
| 14 | g.23415088C>G | CA485765954 | MYH7 | c.5466G>C (p.Leu1822=) | |
| 14 | g.23415088C>T | CA485765956 | MYH7 | c.5466G>A (p.Leu1822=) | |
| 14 | g.23415089A>C | CA389035277 | MYH7 | c.5465T>G (p.Leu1822Arg) | |
| 14 | g.23415089A>G | CA389035282 | MYH7 | c.5465T>C (p.Leu1822Pro) | |
| 14 | g.23415089A>T | CA389035280 | MYH7 | c.5465T>A (p.Leu1822Gln) | |
| 14 | g.23415090del | CA2624231812 | MYH7 | c.5464del (p.Leu1822TrpfsTer16) | gnomAD v4 |
| 14 | g.23415090G>A | CA485765959 | MYH7 | c.5464C>T (p.Leu1822=) | |
| 14 | g.23415090G>C | CA389035285 | MYH7 | c.5464C>G (p.Leu1822Val) | |
| 14 | g.23415090G>T | CA389035287 | MYH7 | c.5464C>A (p.Leu1822Met) | |
| 14 | g.23415091C>A | CA389035290 | MYH7 | c.5463G>T (p.Glu1821Asp) | |
| 14 | g.23415091C>G | CA389035291 | MYH7 | c.5463G>C (p.Glu1821Asp) | |
| 14 | g.23415091C>T | CA485765965 | MYH7 | c.5463G>A (p.Glu1821=) | |
| 14 | g.23415092_23415093dup | CA2624231820 | MYH7 | c.5462_5463dup (p.Leu1822SerfsTer17) | gnomAD v4 |
| 14 | g.23415092T>A | CA389035294 | MYH7 | c.5462A>T (p.Glu1821Val) | |
| 14 | g.23415092T>C | CA389035296 | MYH7 | c.5462A>G (p.Glu1821Gly) | |
| 14 | g.23415092T>G | CA389035298 | MYH7 | c.5462A>C (p.Glu1821Ala) | |
| 14 | g.23415093C>A | CA389035301 | MYH7 | c.5461G>T (p.Glu1821Ter) | |
| 14 | g.23415093C>G | CA389035303 | MYH7 | c.5461G>C (p.Glu1821Gln) | |
| 14 | g.23415093C>T | CA389035305 | MYH7 | c.5461G>A (p.Glu1821Lys) | gnomAD v4 |
| 14 | g.23415094C>A | CA485765972 | MYH7 | c.5460G>T (p.Arg1820=) | |
| 14 | g.23415094C>G | CA485765973 | MYH7 | c.5460G>C (p.Arg1820=) | ClinVar |
| 14 | g.23415094C>T | CA485765976 | MYH7 | c.5460G>A (p.Arg1820=) | gnomAD v4 |
| 14 | g.23415095C>A | CA389035311 | MYH7 | c.5459G>T (p.Arg1820Leu) | |
| 14 | g.23415095C= | CA2123461914 | MYH7 | c.5459G= (p.Arg1820=) | |
| 14 | g.23415095C>G | CA389035309 | MYH7 | c.5459G>C (p.Arg1820Pro) | |
| 14 | g.23415095C>T | CA046848 | MYH7 | c.5459G>A (p.Arg1820Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415096G>A | CA016126 | MYH7 | c.5458C>T (p.Arg1820Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415096G>C | CA046829 | MYH7 | c.5458C>G (p.Arg1820Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415096G= | CA2123461925 | MYH7 | c.5458C= (p.Arg1820=) | |
| 14 | g.23415096G>T | CA485765981 | MYH7 | c.5458C>A (p.Arg1820=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415097C>A | CA485765983 | MYH7 | c.5457G>T (p.Val1819=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415097C= | CA2123461938 | MYH7 | c.5457G= (p.Val1819=) | |
| 14 | g.23415097C>G | CA485765985 | MYH7 | c.5457G>C (p.Val1819=) | dbSNP |
| 14 | g.23415097C>T | CA485765986 | MYH7 | c.5457G>A (p.Val1819=) | |
| 14 | g.23415098A= | CA2123461943 | MYH7 | c.5456T= (p.Val1819=) | |
| 14 | g.23415098A>C | CA389035316 | MYH7 | c.5456T>G (p.Val1819Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415098A>G | CA389035318 | MYH7 | c.5456T>C (p.Val1819Ala) | |
| 14 | g.23415098A>T | CA389035319 | MYH7 | c.5456T>A (p.Val1819Glu) | |
| 14 | g.23415099C>A | CA389035322 | MYH7 | c.5455G>T (p.Val1819Leu) | gnomAD v4 |
| 14 | g.23415099C>G | CA389035324 | MYH7 | c.5455G>C (p.Val1819Leu) | gnomAD v4 |
| 14 | g.23415099C>T | CA389035326 | MYH7 | c.5455G>A (p.Val1819Met) | |
| 14 | g.23415100C>A | CA485765993 | MYH7 | c.5454G>T (p.Arg1818=) | |
| 14 | g.23415100C>G | CA485765995 | MYH7 | c.5454G>C (p.Arg1818=) | |
| 14 | g.23415100C>T | CA485765997 | MYH7 | c.5454G>A (p.Arg1818=) | gnomAD v4 |
| 14 | g.23415101C>A | CA389035328 | MYH7 | c.5453G>T (p.Arg1818Leu) | |
| 14 | g.23415101C= | CA2123461956 | MYH7 | c.5453G= (p.Arg1818=) | |
| 14 | g.23415101C>G | CA389035329 | MYH7 | c.5453G>C (p.Arg1818Pro) | |
| 14 | g.23415101C>T | CA016119 | MYH7 | c.5453G>A (p.Arg1818Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415102G>A | CA046814 | MYH7 | c.5452C>T (p.Arg1818Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23415102G>C | CA389035333 | MYH7 | c.5452C>G (p.Arg1818Gly) | |
| 14 | g.23415102G= | CA2123461972 | MYH7 | c.5452C= (p.Arg1818=) | |
| 14 | g.23415102G>T | CA485766003 | MYH7 | c.5452C>A (p.Arg1818=) | |
| 14 | g.23415103C>A | CA257808948 | MYH7 | c.5451G>T (p.Ala1817=) | dbSNP |
| 14 | g.23415103C= | CA2123461987 | MYH7 | c.5451G= (p.Ala1817=) | |
| 14 | g.23415103C>G | CA046804 | MYH7 | c.5451G>C (p.Ala1817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415103C>T | CA046796 | MYH7 | c.5451G>A (p.Ala1817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415104G>A | CA389035340 | MYH7 | c.5450C>T (p.Ala1817Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415104G>C | CA389035342 | MYH7 | c.5450C>G (p.Ala1817Gly) | |
| 14 | g.23415104G= | CA2123461999 | MYH7 | c.5450C= (p.Ala1817=) | |
| 14 | g.23415104G>T | CA389035345 | MYH7 | c.5450C>A (p.Ala1817Glu) | |
| 14 | g.23415105C>A | CA389035347 | MYH7 | c.5449G>T (p.Ala1817Ser) | |
| 14 | g.23415105C>G | CA389035348 | MYH7 | c.5449G>C (p.Ala1817Pro) | |
| 14 | g.23415105C>T | CA389035350 | MYH7 | c.5449G>A (p.Ala1817Thr) | gnomAD v4 |
| 14 | g.23415106T>A | CA389035353 | MYH7 | c.5448A>T (p.Glu1816Asp) | |
| 14 | g.23415106T>C | CA485766012 | MYH7 | c.5448A>G (p.Glu1816=) | ClinVar dbSNP |
| 14 | g.23415106T>G | CA046786 | MYH7 | c.5448A>C (p.Glu1816Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415106T= | CA2123462006 | MYH7 | c.5448A= (p.Glu1816=) | |
| 14 | g.23415107T>A | CA389035357 | MYH7 | c.5447A>T (p.Glu1816Val) | |
| 14 | g.23415107T>C | CA389035359 | MYH7 | c.5447A>G (p.Glu1816Gly) | gnomAD v4 |
| 14 | g.23415107T>G | CA389035361 | MYH7 | c.5447A>C (p.Glu1816Ala) | |
| 14 | g.23415108C>A | CA389035368 | MYH7 | c.5446G>T (p.Glu1816Ter) | |
| 14 | g.23415108C>G | CA389035366 | MYH7 | c.5446G>C (p.Glu1816Gln) | |
| 14 | g.23415108C>T | CA389035364 | MYH7 | c.5446G>A (p.Glu1816Lys) | |
| 14 | g.23415109C>A | CA485766019 | MYH7 | c.5445G>T (p.Leu1815=) | |
| 14 | g.23415109C>G | CA485766021 | MYH7 | c.5445G>C (p.Leu1815=) | |
| 14 | g.23415109C>T | CA485766022 | MYH7 | c.5445G>A (p.Leu1815=) | |
| 14 | g.23415110A>C | CA389035372 | MYH7 | c.5444T>G (p.Leu1815Arg) | |
| 14 | g.23415110A>G | CA389035374 | MYH7 | c.5444T>C (p.Leu1815Pro) | |
| 14 | g.23415110A>T | CA389035373 | MYH7 | c.5444T>A (p.Leu1815Gln) | |
| 14 | g.23415111G>A | CA485766026 | MYH7 | c.5443C>T (p.Leu1815=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415111G>C | CA389035375 | MYH7 | c.5443C>G (p.Leu1815Val) | |
| 14 | g.23415111G= | CA2123462010 | MYH7 | c.5443C= (p.Leu1815=) | |
| 14 | g.23415111G>T | CA389035376 | MYH7 | c.5443C>A (p.Leu1815Met) | |
| 14 | g.23415112C>A | CA389035377 | MYH7 | c.5442G>T (p.Lys1814Asn) | |
| 14 | g.23415112C>G | CA389035378 | MYH7 | c.5442G>C (p.Lys1814Asn) | |
| 14 | g.23415112C>T | CA485766031 | MYH7 | c.5442G>A (p.Lys1814=) | gnomAD v4 |
| 14 | g.23415113T>A | CA389035379 | MYH7 | c.5441A>T (p.Lys1814Met) | |
| 14 | g.23415113T>C | CA389035380 | MYH7 | c.5441A>G (p.Lys1814Arg) | ClinVar dbSNP |
| 14 | g.23415113T>G | CA389035381 | MYH7 | c.5441A>C (p.Lys1814Thr) | |
| 14 | g.23415113T= | CA2123462018 | MYH7 | c.5441A= (p.Lys1814=) | |
| 14 | g.23415114T>A | CA389035382 | MYH7 | c.5440A>T (p.Lys1814Ter) | |
| 14 | g.23415114T>C | CA389035383 | MYH7 | c.5440A>G (p.Lys1814Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415114T>G | CA389035384 | MYH7 | c.5440A>C (p.Lys1814Gln) | gnomAD v4 |
| 14 | g.23415114T= | CA2123462026 | MYH7 | c.5440A= (p.Lys1814=) | |
| 14 | g.23415115C>A | CA389035385 | MYH7 | c.5439G>T (p.Gln1813His) | |
| 14 | g.23415115C>G | CA389035386 | MYH7 | c.5439G>C (p.Gln1813His) | |
| 14 | g.23415115C>T | CA485766044 | MYH7 | c.5439G>A (p.Gln1813=) | |
| 14 | g.23415116T>A | CA389035387 | MYH7 | c.5438A>T (p.Gln1813Leu) | |
| 14 | g.23415116T>C | CA389035389 | MYH7 | c.5438A>G (p.Gln1813Arg) | |
| 14 | g.23415116T>G | CA389035388 | MYH7 | c.5438A>C (p.Gln1813Pro) | |
| 14 | g.23415117G>A | CA389035391 | MYH7 | c.5437C>T (p.Gln1813Ter) | COSMIC |
| 14 | g.23415117G>C | CA389035393 | MYH7 | c.5437C>G (p.Gln1813Glu) | |
| 14 | g.23415117G>T | CA389035396 | MYH7 | c.5437C>A (p.Gln1813Lys) | |
| 14 | g.23415118C>A | CA485766057 | MYH7 | c.5436G>T (p.Leu1812=) | |
| 14 | g.23415118C= | CA2123462036 | MYH7 | c.5436G= (p.Leu1812=) | |
| 14 | g.23415118C>G | CA485766061 | MYH7 | c.5436G>C (p.Leu1812=) | |
| 14 | g.23415118C>T | CA485766063 | MYH7 | c.5436G>A (p.Leu1812=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415119A= | CA2123462043 | MYH7 | c.5435T= (p.Leu1812=) | |
| 14 | g.23415119A>C | CA389035399 | MYH7 | c.5435T>G (p.Leu1812Arg) | |
| 14 | g.23415119A>G | CA389035400 | MYH7 | c.5435T>C (p.Leu1812Pro) | |
| 14 | g.23415119A>T | CA389035402 | MYH7 | c.5435T>A (p.Leu1812Gln) | dbSNP |
| 14 | g.23415120G>A | CA485766073 | MYH7 | c.5434C>T (p.Leu1812=) | |
| 14 | g.23415120G>C | CA389035406 | MYH7 | c.5434C>G (p.Leu1812Val) | ClinVar dbSNP |
| 14 | g.23415120G>T | CA389035407 | MYH7 | c.5434C>A (p.Leu1812Met) | |
| 14 | g.23415121C>A | CA389035410 | MYH7 | c.5433G>T (p.Gln1811His) | |
| 14 | g.23415121C>G | CA389035412 | MYH7 | c.5433G>C (p.Gln1811His) | |
| 14 | g.23415121C>T | CA485766081 | MYH7 | c.5433G>A (p.Gln1811=) | |
| 14 | g.23415122T>A | CA389035416 | MYH7 | c.5432A>T (p.Gln1811Leu) | |
| 14 | g.23415122T>C | CA389035418 | MYH7 | c.5432A>G (p.Gln1811Arg) | |
| 14 | g.23415122T>G | CA389035414 | MYH7 | c.5432A>C (p.Gln1811Pro) | |
| 14 | g.23415123G>A | CA389035420 | MYH7 | c.5431C>T (p.Gln1811Ter) | |
| 14 | g.23415123G>C | CA389035422 | MYH7 | c.5431C>G (p.Gln1811Glu) | |
| 14 | g.23415123G= | CA2123462049 | MYH7 | c.5431C= (p.Gln1811=) | |
| 14 | g.23415123G>T | CA389035424 | MYH7 | c.5431C>A (p.Gln1811Lys) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415124C>A | CA389035427 | MYH7 | c.5430G>T (p.Lys1810Asn) | |
| 14 | g.23415124C= | CA2123462053 | MYH7 | c.5430G= (p.Lys1810=) | |
| 14 | g.23415124C>G | CA389035428 | MYH7 | c.5430G>C (p.Lys1810Asn) | |
| 14 | g.23415124C>T | CA046779 | MYH7 | c.5430G>A (p.Lys1810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415125T>A | CA389035435 | MYH7 | c.5429A>T (p.Lys1810Met) | |
| 14 | g.23415125T>C | CA389035431 | MYH7 | c.5429A>G (p.Lys1810Arg) | |
| 14 | g.23415125T>G | CA389035433 | MYH7 | c.5429A>C (p.Lys1810Thr) | |
| 14 | g.23415126T>A | CA389035438 | MYH7 | c.5428A>T (p.Lys1810Ter) | |
| 14 | g.23415126T>C | CA389035440 | MYH7 | c.5428A>G (p.Lys1810Glu) | |
| 14 | g.23415126T>G | CA389035442 | MYH7 | c.5428A>C (p.Lys1810Gln) | ClinVar dbSNP |
| 14 | g.23415127C>A | CA389035444 | MYH7 | c.5427G>T (p.Lys1809Asn) | |
| 14 | g.23415127C= | CA2123462058 | MYH7 | c.5427G= (p.Lys1809=) | |
| 14 | g.23415127C>G | CA389035445 | MYH7 | c.5427G>C (p.Lys1809Asn) | |
| 14 | g.23415127C>T | CA485766114 | MYH7 | c.5427G>A (p.Lys1809=) | dbSNP |
| 14 | g.23415128T>A | CA389035448 | MYH7 | c.5426A>T (p.Lys1809Met) | |
| 14 | g.23415128T>C | CA389035453 | MYH7 | c.5426A>G (p.Lys1809Arg) | |
| 14 | g.23415128T>G | CA389035449 | MYH7 | c.5426A>C (p.Lys1809Thr) | |
| 14 | g.23415129T>A | CA389035456 | MYH7 | c.5425A>T (p.Lys1809Ter) | |
| 14 | g.23415129T>C | CA389035458 | MYH7 | c.5425A>G (p.Lys1809Glu) | |
| 14 | g.23415129T>G | CA389035460 | MYH7 | c.5425A>C (p.Lys1809Gln) | |
| 14 | g.23415130G>A | CA485766124 | MYH7 | c.5424C>T (p.Gly1808=) | |
| 14 | g.23415130G>C | CA485766128 | MYH7 | c.5424C>G (p.Gly1808=) | |
| 14 | g.23415130G>T | CA485766131 | MYH7 | c.5424C>A (p.Gly1808=) | ClinVar dbSNP |
| 14 | g.23415131C>A | CA389035463 | MYH7 | c.5423G>T (p.Gly1808Val) | |
| 14 | g.23415131C= | CA2123462063 | MYH7 | c.5423G= (p.Gly1808=) | |
| 14 | g.23415131C>G | CA257808971 | MYH7 | c.5423G>C (p.Gly1808Ala) | dbSNP gnomAD v4 |
| 14 | g.23415131C>T | CA389035466 | MYH7 | c.5423G>A (p.Gly1808Asp) | ClinVar dbSNP |
| 14 | g.23415132C>A | CA389035469 | MYH7 | c.5422G>T (p.Gly1808Cys) | |
| 14 | g.23415132C= | CA2123462073 | MYH7 | c.5422G= (p.Gly1808=) | |
| 14 | g.23415132C>G | CA389035471 | MYH7 | c.5422G>C (p.Gly1808Arg) | |
| 14 | g.23415132C>T | CA046762 | MYH7 | c.5422G>A (p.Gly1808Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415133G>A | CA016114 | MYH7 | c.5421C>T (p.Gly1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415133G>C | CA016107 | MYH7 | c.5421C>G (p.Gly1807=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415133G= | CA2123462093 | MYH7 | c.5421C= (p.Gly1807=) | |
| 14 | g.23415133G>T | CA046739 | MYH7 | c.5421C>A (p.Gly1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415134C>A | CA389035484 | MYH7 | c.5420G>T (p.Gly1807Val) | |
| 14 | g.23415134C>G | CA389035482 | MYH7 | c.5420G>C (p.Gly1807Ala) | |
| 14 | g.23415134C>T | CA389035480 | MYH7 | c.5420G>A (p.Gly1807Asp) | ClinVar |
| 14 | g.23415136del | CA2580087924 | MYH7 | c.5420del (p.Gly1807AlafsTer?) | ClinVar |
| 14 | g.23415135C>A | CA389035488 | MYH7 | c.5419G>T (p.Gly1807Cys) | |
| 14 | g.23415135C= | CA2123462107 | MYH7 | c.5419G= (p.Gly1807=) | |
| 14 | g.23415135C>G | CA389035490 | MYH7 | c.5419G>C (p.Gly1807Arg) | |
| 14 | g.23415135C>T | CA046717 | MYH7 | c.5419G>A (p.Gly1807Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415136C>A | CA389035493 | MYH7 | c.5418G>T (p.Lys1806Asn) | |
| 14 | g.23415136C>G | CA389035495 | MYH7 | c.5418G>C (p.Lys1806Asn) | |
| 14 | g.23415136C>T | CA485766159 | MYH7 | c.5418G>A (p.Lys1806=) | |
| 14 | g.23415137T>A | CA389035498 | MYH7 | c.5417A>T (p.Lys1806Met) | |
| 14 | g.23415137T>C | CA389035499 | MYH7 | c.5417A>G (p.Lys1806Arg) | |
| 14 | g.23415137T>G | CA389035501 | MYH7 | c.5417A>C (p.Lys1806Thr) | |
| 14 | g.23415138T>A | CA389035505 | MYH7 | c.5416A>T (p.Lys1806Ter) | |
| 14 | g.23415138T>C | CA389035507 | MYH7 | c.5416A>G (p.Lys1806Glu) | ClinVar dbSNP |
| 14 | g.23415138T>G | CA389035508 | MYH7 | c.5416A>C (p.Lys1806Gln) | ClinVar dbSNP |
| 14 | g.23415138T= | CA2123462115 | MYH7 | c.5416A= (p.Lys1806=) | |
| 14 | g.23415139G>A | CA485766165 | MYH7 | c.5415C>T (p.Leu1805=) | |
| 14 | g.23415139G>C | CA485766163 | MYH7 | c.5415C>G (p.Leu1805=) | dbSNP |
| 14 | g.23415139G= | CA2123462123 | MYH7 | c.5415C= (p.Leu1805=) | |
| 14 | g.23415139G>T | CA485766161 | MYH7 | c.5415C>A (p.Leu1805=) | |
| 14 | g.23415140A>C | CA389035511 | MYH7 | c.5414T>G (p.Leu1805Arg) | ClinVar |
| 14 | g.23415140A>G | CA389035513 | MYH7 | c.5414T>C (p.Leu1805Pro) | ClinVar dbSNP |
| 14 | g.23415140A>T | CA389035514 | MYH7 | c.5414T>A (p.Leu1805His) | |
| 14 | g.23415141G>A | CA389035516 | MYH7 | c.5413C>T (p.Leu1805Phe) | |
| 14 | g.23415141G>C | CA389035518 | MYH7 | c.5413C>G (p.Leu1805Val) | |
| 14 | g.23415141G= | CA2123462124 | MYH7 | c.5413C= (p.Leu1805=) | |
| 14 | g.23415141G>T | CA389035519 | MYH7 | c.5413C>A (p.Leu1805Ile) | ClinVar dbSNP |
| 14 | g.23415142G>A | CA485766169 | MYH7 | c.5412C>T (p.Ala1804=) | |
| 14 | g.23415142G>C | CA046706 | MYH7 | c.5412C>G (p.Ala1804=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415142G= | CA2123462127 | MYH7 | c.5412C= (p.Ala1804=) | |
| 14 | g.23415142G>T | CA485766170 | MYH7 | c.5412C>A (p.Ala1804=) | |
| 14 | g.23415143G>A | CA389035527 | MYH7 | c.5411C>T (p.Ala1804Val) | |
| 14 | g.23415143G>C | CA257809024 | MYH7 | c.5411C>G (p.Ala1804Gly) | ClinVar dbSNP |
| 14 | g.23415143G= | CA2123462134 | MYH7 | c.5411C= (p.Ala1804=) | |
| 14 | g.23415143G>T | CA389035524 | MYH7 | c.5411C>A (p.Ala1804Asp) | |
| 14 | g.23415144C>A | CA389035530 | MYH7 | c.5410G>T (p.Ala1804Ser) | ClinVar |
| 14 | g.23415144C= | CA2123462143 | MYH7 | c.5410G= (p.Ala1804=) | |
| 14 | g.23415144C>G | CA389035532 | MYH7 | c.5410G>C (p.Ala1804Pro) | |
| 14 | g.23415144C>T | CA016102 | MYH7 | c.5410G>A (p.Ala1804Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23415145G>A | CA046668 | MYH7 | c.5409C>T (p.Ile1803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415145G>C | CA389035536 | MYH7 | c.5409C>G (p.Ile1803Met) | |
| 14 | g.23415145G= | CA2123462159 | MYH7 | c.5409C= (p.Ile1803=) | |
| 14 | g.23415145G>T | CA485766177 | MYH7 | c.5409C>A (p.Ile1803=) | |
| 14 | g.23415146A>C | CA389035540 | MYH7 | c.5408T>G (p.Ile1803Ser) | |
| 14 | g.23415146A>G | CA389035541 | MYH7 | c.5408T>C (p.Ile1803Thr) | |
| 14 | g.23415146A>T | CA389035543 | MYH7 | c.5408T>A (p.Ile1803Asn) | |
| 14 | g.23415147T>A | CA389035546 | MYH7 | c.5407A>T (p.Ile1803Phe) | |
| 14 | g.23415147T>C | CA389035548 | MYH7 | c.5407A>G (p.Ile1803Val) | ClinVar dbSNP |
| 14 | g.23415147T>G | CA389035551 | MYH7 | c.5407A>C (p.Ile1803Leu) | |
| 14 | g.23415147T= | CA2123462168 | MYH7 | c.5407A= (p.Ile1803=) | |
| 14 | g.23415148C>A | CA389035555 | MYH7 | c.5406G>T (p.Gln1802His) | gnomAD v4 |
| 14 | g.23415148C>G | CA389035557 | MYH7 | c.5406G>C (p.Gln1802His) | |
| 14 | g.23415148C>T | CA485766185 | MYH7 | c.5406G>A (p.Gln1802=) | |
| 14 | g.23415149T>A | CA389035562 | MYH7 | c.5405A>T (p.Gln1802Leu) | |
| 14 | g.23415149T>C | CA389035565 | MYH7 | c.5405A>G (p.Gln1802Arg) | |
| 14 | g.23415149T>G | CA389035560 | MYH7 | c.5405A>C (p.Gln1802Pro) | |
| 14 | g.23415150G>A | CA389035568 | MYH7 | c.5404C>T (p.Gln1802Ter) | |
| 14 | g.23415150G>C | CA389035570 | MYH7 | c.5404C>G (p.Gln1802Glu) | |
| 14 | g.23415150G>T | CA389035573 | MYH7 | c.5404C>A (p.Gln1802Lys) | |
| 14 | g.23415151C>A | CA389035577 | MYH7 | c.5403G>T (p.Glu1801Asp) | |
| 14 | g.23415151C>G | CA389035580 | MYH7 | c.5403G>C (p.Glu1801Asp) | |
| 14 | g.23415151C>T | CA485766190 | MYH7 | c.5403G>A (p.Glu1801=) | |
| 14 | g.23415152T>A | CA389035582 | MYH7 | c.5402A>T (p.Glu1801Val) | |
| 14 | g.23415152T>C | CA389035583 | MYH7 | c.5402A>G (p.Glu1801Gly) | |
| 14 | g.23415152T>G | CA389035585 | MYH7 | c.5402A>C (p.Glu1801Ala) | |
| 14 | g.23415152_23415153delinsTC | CA2123462180 | MYH7 | c.5401_5402delinsGA (p.Glu1801=) | |
| 14 | g.23415153del | CA2123462187 | MYH7 | c.5401del (p.Glu1801SerfsTer?) | ClinVar dbSNP |
| 14 | g.23415153C>A | CA389035587 | MYH7 | c.5401G>T (p.Glu1801Ter) | |
| 14 | g.23415153C= | CA2123462189 | MYH7 | c.5401G= (p.Glu1801=) | |
| 14 | g.23415153C>G | CA389035588 | MYH7 | c.5401G>C (p.Glu1801Gln) | |
| 14 | g.23415153C>T | CA016087 | MYH7 | c.5401G>A (p.Glu1801Lys) | ClinVar dbSNP |
| 14 | g.23415154G>A | CA016079 | MYH7 | c.5400C>T (p.Ala1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415154G>C | CA485766196 | MYH7 | c.5400C>G (p.Ala1800=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415154G= | CA2123462203 | MYH7 | c.5400C= (p.Ala1800=) | |
| 14 | g.23415154G>T | CA485766197 | MYH7 | c.5400C>A (p.Ala1800=) | dbSNP |
| 14 | g.23415155G>A | CA016070 | MYH7 | c.5399C>T (p.Ala1800Val) | ClinVar dbSNP |
| 14 | g.23415155G>C | CA389035594 | MYH7 | c.5399C>G (p.Ala1800Gly) | |
| 14 | g.23415155G= | CA2123462210 | MYH7 | c.5399C= (p.Ala1800=) | |
| 14 | g.23415155G>T | CA389035596 | MYH7 | c.5399C>A (p.Ala1800Asp) | gnomAD v4 |
| 14 | g.23415156C>A | CA389035598 | MYH7 | c.5398G>T (p.Ala1800Ser) | |
| 14 | g.23415156C= | CA2123462230 | MYH7 | c.5398G= (p.Ala1800=) | |
| 14 | g.23415156C>G | CA016063 | MYH7 | c.5398G>C (p.Ala1800Pro) | ClinVar dbSNP |
| 14 | g.23415156C>T | CA389035600 | MYH7 | c.5398G>A (p.Ala1800Thr) | |
| 14 | g.23415157T>A | CA389035602 | MYH7 | c.5397A>T (p.Glu1799Asp) | |
| 14 | g.23415157T>C | CA016055 | MYH7 | c.5397A>G (p.Glu1799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415157T>G | CA389035605 | MYH7 | c.5397A>C (p.Glu1799Asp) | |
| 14 | g.23415157T= | CA2123462238 | MYH7 | c.5397A= (p.Glu1799=) | |
| 14 | g.23415158T>A | CA389035608 | MYH7 | c.5396A>T (p.Glu1799Val) | |
| 14 | g.23415158T>C | CA389035610 | MYH7 | c.5396A>G (p.Glu1799Gly) | |
| 14 | g.23415158T>G | CA389035611 | MYH7 | c.5396A>C (p.Glu1799Ala) | |
| 14 | g.23415159C>A | CA389035613 | MYH7 | c.5395G>T (p.Glu1799Ter) | |
| 14 | g.23415159C= | CA2123462251 | MYH7 | c.5395G= (p.Glu1799=) | |
| 14 | g.23415159C>G | CA389035614 | MYH7 | c.5395G>C (p.Glu1799Gln) | |
| 14 | g.23415159C>T | CA016046 | MYH7 | c.5395G>A (p.Glu1799Lys) | ClinVar dbSNP COSMIC |
| 14 | g.23415160G>A | CA046635 | MYH7 | c.5394C>T (p.Asp1798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415160G>C | CA389035621 | MYH7 | c.5394C>G (p.Asp1798Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415160G= | CA2123462266 | MYH7 | c.5394C= (p.Asp1798=) | |
| 14 | g.23415160G>T | CA389035619 | MYH7 | c.5394C>A (p.Asp1798Glu) | gnomAD v4 |
| 14 | g.23415161T>A | CA389035632 | MYH7 | c.5393A>T (p.Asp1798Val) | |
| 14 | g.23415161T>C | CA389035625 | MYH7 | c.5393A>G (p.Asp1798Gly) | |
| 14 | g.23415161T>G | CA389035634 | MYH7 | c.5393A>C (p.Asp1798Ala) | |
| 14 | g.23415162C>A | CA389035636 | MYH7 | c.5392G>T (p.Asp1798Tyr) | ClinVar |
| 14 | g.23415162C>G | CA389035638 | MYH7 | c.5392G>C (p.Asp1798His) | |
| 14 | g.23415162C>T | CA389035640 | MYH7 | c.5392G>A (p.Asp1798Asn) | |
| 14 | g.23415163C>A | CA485766214 | MYH7 | c.5391G>T (p.Leu1797=) | |
| 14 | g.23415163C= | CA2123462271 | MYH7 | c.5391G= (p.Leu1797=) | |
| 14 | g.23415163C>G | CA485766215 | MYH7 | c.5391G>C (p.Leu1797=) | |
| 14 | g.23415163C>T | CA485766216 | MYH7 | c.5391G>A (p.Leu1797=) | dbSNP gnomAD v4 |
| 14 | g.23415164A= | CA2123462277 | MYH7 | c.5390T= (p.Leu1797=) | |
| 14 | g.23415164A>C | CA389035642 | MYH7 | c.5390T>G (p.Leu1797Arg) | |
| 14 | g.23415164A>G | CA389035644 | MYH7 | c.5390T>C (p.Leu1797Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415164A>T | CA389035646 | MYH7 | c.5390T>A (p.Leu1797Gln) | |
| 14 | g.23415165G>A | CA485766221 | MYH7 | c.5389C>T (p.Leu1797=) | |
| 14 | g.23415165G>C | CA389035648 | MYH7 | c.5389C>G (p.Leu1797Val) | |
| 14 | g.23415165G>T | CA389035650 | MYH7 | c.5389C>A (p.Leu1797Met) | ClinVar gnomAD v4 |
| 14 | g.23415166C>A | CA485766225 | MYH7 | c.5388G>T (p.Arg1796=) | |
| 14 | g.23415166C>G | CA485766223 | MYH7 | c.5388G>C (p.Arg1796=) | |
| 14 | g.23415166C>T | CA485766222 | MYH7 | c.5388G>A (p.Arg1796=) | COSMIC |
| 14 | g.23415167C>A | CA389035652 | MYH7 | c.5387G>T (p.Arg1796Leu) | gnomAD v4 COSMIC |
| 14 | g.23415167C= | CA2123462289 | MYH7 | c.5387G= (p.Arg1796=) | |
| 14 | g.23415167C>G | CA389035654 | MYH7 | c.5387G>C (p.Arg1796Pro) | |
| 14 | g.23415167C>T | CA389035656 | MYH7 | c.5387G>A (p.Arg1796Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415168G>A | CA046625 | MYH7 | c.5386C>T (p.Arg1796Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415168G>C | CA389035659 | MYH7 | c.5386C>G (p.Arg1796Gly) | |
| 14 | g.23415168G= | CA2123462296 | MYH7 | c.5386C= (p.Arg1796=) | |
| 14 | g.23415168G>T | CA485766230 | MYH7 | c.5386C>A (p.Arg1796=) |