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.201364313_201364314delinsCC | CA1219711553 | TNNT2 | c.458_459delinsGG (p.Arg153=) c.443_444delinsGG (p.Arg148=) c.440_441delinsGG (p.Arg147=) c.473_474delinsGG (p.Arg158=) c.425_426delinsGG (p.Arg142=) n.937_938delinsGG c.163-2315_163-2314delinsGG (n.163-2315_163-2314delinsGG) c.*373_*374delinsGG (n.*373_*374delinsGG) c.353_354delinsGG (p.Arg118=) c.449_450delinsGG (p.Arg150=) c.428_429delinsGG (p.Arg143=) c.266_267delinsGG (p.Arg89=) n.699_700delinsGG n.1682_1683delinsGG n.312_313delinsGG n.369_370delinsGG c.470_471delinsGG (p.Arg157=) | |
| 1 | g.201364313_201364314delinsGT | CA1219711552 | TNNT2 | c.458_459delinsAC (p.Arg153His) c.443_444delinsAC (p.Arg148His) c.440_441delinsAC (p.Arg147His) c.473_474delinsAC (p.Arg158His) c.425_426delinsAC (p.Arg142His) n.937_938delinsAC c.163-2315_163-2314delinsAC (n.163-2315_163-2314delinsAC) c.*373_*374delinsAC (n.*373_*374delinsAC) c.353_354delinsAC (p.Arg118His) c.449_450delinsAC (p.Arg150His) c.428_429delinsAC (p.Arg143His) c.266_267delinsAC (p.Arg89His) n.699_700delinsAC n.1682_1683delinsAC n.312_313delinsAC n.369_370delinsAC c.470_471delinsAC (p.Arg157His) | ClinVar dbSNP |
| 1 | g.201364314C>A | CA344205643 | TNNT2 | c.458G>T (p.Arg153Leu) c.443G>T (p.Arg148Leu) c.440G>T (p.Arg147Leu) c.473G>T (p.Arg158Leu) c.425G>T (p.Arg142Leu) n.937G>T c.163-2315G>T (n.163-2315G>T) c.*373G>T (n.*373G>T) c.353G>T (p.Arg118Leu) c.449G>T (p.Arg150Leu) c.428G>T (p.Arg143Leu) c.266G>T (p.Arg89Leu) n.699G>T n.1682G>T n.312G>T n.369G>T c.470G>T (p.Arg157Leu) | |
| 1 | g.201364314C= | CA1148224912 | TNNT2 | c.458G= (p.Arg153=) c.443G= (p.Arg148=) c.440G= (p.Arg147=) c.473G= (p.Arg158=) c.425G= (p.Arg142=) n.937G= c.163-2315G= (n.163-2315G=) c.*373G= (n.*373G=) c.353G= (p.Arg118=) c.449G= (p.Arg150=) c.428G= (p.Arg143=) c.266G= (p.Arg89=) n.699G= n.1682G= n.312G= n.369G= c.470G= (p.Arg157=) | |
| 1 | g.201364314C>G | CA344205645 | TNNT2 | c.458G>C (p.Arg153Pro) c.443G>C (p.Arg148Pro) c.440G>C (p.Arg147Pro) c.473G>C (p.Arg158Pro) c.425G>C (p.Arg142Pro) n.937G>C c.163-2315G>C (n.163-2315G>C) c.*373G>C (n.*373G>C) c.353G>C (p.Arg118Pro) c.449G>C (p.Arg150Pro) c.428G>C (p.Arg143Pro) c.266G>C (p.Arg89Pro) n.699G>C n.1682G>C n.312G>C n.369G>C c.470G>C (p.Arg157Pro) | |
| 1 | g.201364314C>T | CA004570 | TNNT2 | c.458G>A (p.Arg153Gln) c.443G>A (p.Arg148Gln) c.440G>A (p.Arg147Gln) c.473G>A (p.Arg158Gln) c.425G>A (p.Arg142Gln) n.937G>A c.163-2315G>A (n.163-2315G>A) c.*373G>A (n.*373G>A) c.353G>A (p.Arg118Gln) c.449G>A (p.Arg150Gln) c.428G>A (p.Arg143Gln) c.266G>A (p.Arg89Gln) n.699G>A n.1682G>A n.312G>A n.369G>A c.470G>A (p.Arg157Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201364315G>A | CA004562 | TNNT2 | c.457C>T (p.Arg153Trp) c.442C>T (p.Arg148Trp) c.439C>T (p.Arg147Trp) c.472C>T (p.Arg158Trp) c.424C>T (p.Arg142Trp) n.936C>T c.163-2316C>T (n.163-2316C>T) c.*372C>T (n.*372C>T) c.352C>T (p.Arg118Trp) c.448C>T (p.Arg150Trp) c.427C>T (p.Arg143Trp) c.265C>T (p.Arg89Trp) n.698C>T n.1681C>T n.311C>T n.368C>T c.469C>T (p.Arg157Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.201364315G>C | CA344205649 | TNNT2 | c.457C>G (p.Arg153Gly) c.442C>G (p.Arg148Gly) c.439C>G (p.Arg147Gly) c.472C>G (p.Arg158Gly) c.424C>G (p.Arg142Gly) n.936C>G c.163-2316C>G (n.163-2316C>G) c.*372C>G (n.*372C>G) c.352C>G (p.Arg118Gly) c.448C>G (p.Arg150Gly) c.427C>G (p.Arg143Gly) c.265C>G (p.Arg89Gly) n.698C>G n.1681C>G n.311C>G n.368C>G c.469C>G (p.Arg157Gly) | |
| 1 | g.201364315G= | CA1148224913 | TNNT2 | c.457C= (p.Arg153=) c.442C= (p.Arg148=) c.439C= (p.Arg147=) c.472C= (p.Arg158=) c.424C= (p.Arg142=) n.936C= c.163-2316C= (n.163-2316C=) c.*372C= (n.*372C=) c.352C= (p.Arg118=) c.448C= (p.Arg150=) c.427C= (p.Arg143=) c.265C= (p.Arg89=) n.698C= n.1681C= n.311C= n.368C= c.469C= (p.Arg157=) | |
| 1 | g.201364315G>T | CA422532188 | TNNT2 | c.457C>A (p.Arg153=) c.442C>A (p.Arg148=) c.439C>A (p.Arg147=) c.472C>A (p.Arg158=) c.424C>A (p.Arg142=) n.936C>A c.163-2316C>A (n.163-2316C>A) c.*372C>A (n.*372C>A) c.352C>A (p.Arg118=) c.448C>A (p.Arg150=) c.427C>A (p.Arg143=) c.265C>A (p.Arg89=) n.698C>A n.1681C>A n.311C>A n.368C>A c.469C>A (p.Arg157=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201364316C>A | CA344205653 | TNNT2 | c.456G>T (p.Glu152Asp) c.441G>T (p.Glu147Asp) c.438G>T (p.Glu146Asp) c.471G>T (p.Glu157Asp) c.423G>T (p.Glu141Asp) n.935G>T c.163-2317G>T (n.163-2317G>T) c.*371G>T (n.*371G>T) c.351G>T (p.Glu117Asp) c.447G>T (p.Glu149Asp) c.426G>T (p.Glu142Asp) c.264G>T (p.Glu88Asp) n.697G>T n.1680G>T n.310G>T n.367G>T c.468G>T (p.Glu156Asp) | |
| 1 | g.201364316C>G | CA344205654 | TNNT2 | c.456G>C (p.Glu152Asp) c.441G>C (p.Glu147Asp) c.438G>C (p.Glu146Asp) c.471G>C (p.Glu157Asp) c.423G>C (p.Glu141Asp) n.935G>C c.163-2317G>C (n.163-2317G>C) c.*371G>C (n.*371G>C) c.351G>C (p.Glu117Asp) c.447G>C (p.Glu149Asp) c.426G>C (p.Glu142Asp) c.264G>C (p.Glu88Asp) n.697G>C n.1680G>C n.310G>C n.367G>C c.468G>C (p.Glu156Asp) | |
| 1 | g.201364316C>T | CA422532189 | TNNT2 | c.456G>A (p.Glu152=) c.441G>A (p.Glu147=) c.438G>A (p.Glu146=) c.471G>A (p.Glu157=) c.423G>A (p.Glu141=) n.935G>A c.163-2317G>A (n.163-2317G>A) c.*371G>A (n.*371G>A) c.351G>A (p.Glu117=) c.447G>A (p.Glu149=) c.426G>A (p.Glu142=) c.264G>A (p.Glu88=) n.697G>A n.1680G>A n.310G>A n.367G>A c.468G>A (p.Glu156=) | |
| 1 | g.201364317T>A | CA029118 | TNNT2 | c.455A>T (p.Glu152Val) c.440A>T (p.Glu147Val) c.437A>T (p.Glu146Val) c.470A>T (p.Glu157Val) c.422A>T (p.Glu141Val) n.934A>T c.163-2318A>T (n.163-2318A>T) c.*370A>T (n.*370A>T) c.350A>T (p.Glu117Val) c.446A>T (p.Glu149Val) c.425A>T (p.Glu142Val) c.263A>T (p.Glu88Val) n.696A>T n.1679A>T n.309A>T n.366A>T c.467A>T (p.Glu156Val) | |
| 1 | g.201364317T>C | CA088607 | TNNT2 | c.455A>G (p.Glu152Gly) c.440A>G (p.Glu147Gly) c.437A>G (p.Glu146Gly) c.470A>G (p.Glu157Gly) c.422A>G (p.Glu141Gly) n.934A>G c.163-2318A>G (n.163-2318A>G) c.*370A>G (n.*370A>G) c.350A>G (p.Glu117Gly) c.446A>G (p.Glu149Gly) c.425A>G (p.Glu142Gly) c.263A>G (p.Glu88Gly) n.696A>G n.1679A>G n.309A>G n.366A>G c.467A>G (p.Glu156Gly) | ClinVar |
| 1 | g.201364317T>G | CA089881 | TNNT2 | c.455A>C (p.Glu152Ala) c.440A>C (p.Glu147Ala) c.437A>C (p.Glu146Ala) c.470A>C (p.Glu157Ala) c.422A>C (p.Glu141Ala) n.934A>C c.163-2318A>C (n.163-2318A>C) c.*370A>C (n.*370A>C) c.350A>C (p.Glu117Ala) c.446A>C (p.Glu149Ala) c.425A>C (p.Glu142Ala) c.263A>C (p.Glu88Ala) n.696A>C n.1679A>C n.309A>C n.366A>C c.467A>C (p.Glu156Ala) | |
| 1 | g.201364318C>A | CA344205667 | TNNT2 | c.454G>T (p.Glu152Ter) c.439G>T (p.Glu147Ter) c.436G>T (p.Glu146Ter) c.469G>T (p.Glu157Ter) c.421G>T (p.Glu141Ter) n.933G>T c.163-2319G>T (n.163-2319G>T) c.*369G>T (n.*369G>T) c.349G>T (p.Glu117Ter) c.445G>T (p.Glu149Ter) c.424G>T (p.Glu142Ter) c.262G>T (p.Glu88Ter) n.695G>T n.1678G>T n.308G>T n.365G>T c.466G>T (p.Glu156Ter) | |
| 1 | g.201364318C= | CA1219711554 | TNNT2 | c.454G= (p.Glu152=) c.439G= (p.Glu147=) c.436G= (p.Glu146=) c.469G= (p.Glu157=) c.421G= (p.Glu141=) n.933G= c.163-2319G= (n.163-2319G=) c.*369G= (n.*369G=) c.349G= (p.Glu117=) c.445G= (p.Glu149=) c.424G= (p.Glu142=) c.262G= (p.Glu88=) n.695G= n.1678G= n.308G= n.365G= c.466G= (p.Glu156=) | |
| 1 | g.201364318C>G | CA344205670 | TNNT2 | c.454G>C (p.Glu152Gln) c.439G>C (p.Glu147Gln) c.436G>C (p.Glu146Gln) c.469G>C (p.Glu157Gln) c.421G>C (p.Glu141Gln) n.933G>C c.163-2319G>C (n.163-2319G>C) c.*369G>C (n.*369G>C) c.349G>C (p.Glu117Gln) c.445G>C (p.Glu149Gln) c.424G>C (p.Glu142Gln) c.262G>C (p.Glu88Gln) n.695G>C n.1678G>C n.308G>C n.365G>C c.466G>C (p.Glu156Gln) | |
| 1 | g.201364318C>T | CA088586 | TNNT2 | c.454G>A (p.Glu152Lys) c.439G>A (p.Glu147Lys) c.436G>A (p.Glu146Lys) c.469G>A (p.Glu157Lys) c.421G>A (p.Glu141Lys) n.933G>A c.163-2319G>A (n.163-2319G>A) c.*369G>A (n.*369G>A) c.349G>A (p.Glu117Lys) c.445G>A (p.Glu149Lys) c.424G>A (p.Glu142Lys) c.262G>A (p.Glu88Lys) n.695G>A n.1678G>A n.308G>A n.365G>A c.466G>A (p.Glu156Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201364319C>A | CA344205674 | TNNT2 | c.453G>T (p.Lys151Asn) c.438G>T (p.Lys146Asn) c.435G>T (p.Lys145Asn) c.468G>T (p.Lys156Asn) c.420G>T (p.Lys140Asn) n.932G>T c.163-2320G>T (n.163-2320G>T) c.*368G>T (n.*368G>T) c.348G>T (p.Lys116Asn) c.444G>T (p.Lys148Asn) c.423G>T (p.Lys141Asn) c.261G>T (p.Lys87Asn) n.694G>T n.1677G>T n.307G>T n.364G>T c.465G>T (p.Lys155Asn) | dbSNP |
| 1 | g.201364319C>G | CA088208 | TNNT2 | c.453G>C (p.Lys151Asn) c.438G>C (p.Lys146Asn) c.435G>C (p.Lys145Asn) c.468G>C (p.Lys156Asn) c.420G>C (p.Lys140Asn) n.932G>C c.163-2320G>C (n.163-2320G>C) c.*368G>C (n.*368G>C) c.348G>C (p.Lys116Asn) c.444G>C (p.Lys148Asn) c.423G>C (p.Lys141Asn) c.261G>C (p.Lys87Asn) n.694G>C n.1677G>C n.307G>C n.364G>C c.465G>C (p.Lys155Asn) | |
| 1 | g.201364319C>T | CA422532195 | TNNT2 | c.453G>A (p.Lys151=) c.438G>A (p.Lys146=) c.435G>A (p.Lys145=) c.468G>A (p.Lys156=) c.420G>A (p.Lys140=) n.932G>A c.163-2320G>A (n.163-2320G>A) c.*368G>A (n.*368G>A) c.348G>A (p.Lys116=) c.444G>A (p.Lys148=) c.423G>A (p.Lys141=) c.261G>A (p.Lys87=) n.694G>A n.1677G>A n.307G>A n.364G>A c.465G>A (p.Lys155=) | gnomAD v4 |
| 1 | g.201364321_201364323del | CA2580610829 | TNNT2 | c.451_453del (p.Lys151del) c.436_438del (p.Lys146del) c.433_435del (p.Lys145del) c.466_468del (p.Lys156del) c.418_420del (p.Lys140del) n.930_932del c.163-2322_163-2320del (n.163-2322_163-2320del) c.*366_*368del (n.*366_*368del) c.346_348del (p.Lys116del) c.442_444del (p.Lys148del) c.421_423del (p.Lys141del) c.259_261del (p.Lys87del) n.692_694del n.1675_1677del n.305_307del n.362_364del c.463_465del (p.Lys155del) | |
| 1 | g.201364320T>A | CA344205676 | TNNT2 | c.452A>T (p.Lys151Met) c.437A>T (p.Lys146Met) c.434A>T (p.Lys145Met) c.467A>T (p.Lys156Met) c.419A>T (p.Lys140Met) n.931A>T c.163-2321A>T (n.163-2321A>T) c.*367A>T (n.*367A>T) c.347A>T (p.Lys116Met) c.443A>T (p.Lys148Met) c.422A>T (p.Lys141Met) c.260A>T (p.Lys87Met) n.693A>T n.1676A>T n.306A>T n.363A>T c.464A>T (p.Lys155Met) | |
| 1 | g.201364320T>C | CA344205678 | TNNT2 | c.452A>G (p.Lys151Arg) c.437A>G (p.Lys146Arg) c.434A>G (p.Lys145Arg) c.467A>G (p.Lys156Arg) c.419A>G (p.Lys140Arg) n.931A>G c.163-2321A>G (n.163-2321A>G) c.*367A>G (n.*367A>G) c.347A>G (p.Lys116Arg) c.443A>G (p.Lys148Arg) c.422A>G (p.Lys141Arg) c.260A>G (p.Lys87Arg) n.693A>G n.1676A>G n.306A>G n.363A>G c.464A>G (p.Lys155Arg) | |
| 1 | g.201364320T>G | CA344205689 | TNNT2 | c.452A>C (p.Lys151Thr) c.437A>C (p.Lys146Thr) c.434A>C (p.Lys145Thr) c.467A>C (p.Lys156Thr) c.419A>C (p.Lys140Thr) n.931A>C c.163-2321A>C (n.163-2321A>C) c.*367A>C (n.*367A>C) c.347A>C (p.Lys116Thr) c.443A>C (p.Lys148Thr) c.422A>C (p.Lys141Thr) c.260A>C (p.Lys87Thr) n.693A>C n.1676A>C n.306A>C n.363A>C c.464A>C (p.Lys155Thr) | |
| 1 | g.201364321del | CA088606 | TNNT2 | c.452del (p.Lys151ArgfsTer?) c.437del (p.Lys146ArgfsTer?) c.434del (p.Lys145ArgfsTer?) c.467del (p.Lys156ArgfsTer?) c.419del (p.Lys140ArgfsTer?) n.931del c.163-2321del (n.163-2321del) c.*367del (n.*367del) c.347del (p.Lys116ArgfsTer?) c.443del (p.Lys148ArgfsTer?) c.422del (p.Lys141ArgfsTer?) c.260del (p.Lys87ArgfsTer?) n.693del n.1676del n.306del n.363del c.464del (p.Lys155ArgfsTer?) c.467del (p.Lys156ArgfsTer26) | |
| 1 | g.201364320_201364321insCAGGAACCAGGAAGAGGAG | CA089887 | TNNT2 | c.451_452insCTCCTCTTCCTGGTTCCTG (p.Lys151ThrfsTer7) c.436_437insCTCCTCTTCCTGGTTCCTG (p.Lys146ThrfsTer7) c.433_434insCTCCTCTTCCTGGTTCCTG (p.Lys145ThrfsTer7) c.466_467insCTCCTCTTCCTGGTTCCTG (p.Lys156ThrfsTer7) c.418_419insCTCCTCTTCCTGGTTCCTG (p.Lys140ThrfsTer7) n.930_931insCTCCTCTTCCTGGTTCCTG c.163-2322_163-2321insCTCCTCTTCCTGGTTCCTG (n.163-2322_163-2321insCTCCTCTTCCTGGTTCCTG) c.*366_*367insCTCCTCTTCCTGGTTCCTG (n.*366_*367insCTCCTCTTCCTGGTTCCTG) c.346_347insCTCCTCTTCCTGGTTCCTG (p.Lys116ThrfsTer7) c.442_443insCTCCTCTTCCTGGTTCCTG (p.Lys148ThrfsTer7) c.421_422insCTCCTCTTCCTGGTTCCTG (p.Lys141ThrfsTer7) c.259_260insCTCCTCTTCCTGGTTCCTG (p.Lys87ThrfsTer7) n.692_693insCTCCTCTTCCTGGTTCCTG n.1675_1676insCTCCTCTTCCTGGTTCCTG n.305_306insCTCCTCTTCCTGGTTCCTG n.362_363insCTCCTCTTCCTGGTTCCTG c.463_464insCTCCTCTTCCTGGTTCCTG (p.Lys155ThrfsTer7) | |
| 1 | g.201364321T>A | CA344205690 | TNNT2 | c.451A>T (p.Lys151Ter) c.436A>T (p.Lys146Ter) c.433A>T (p.Lys145Ter) c.466A>T (p.Lys156Ter) c.418A>T (p.Lys140Ter) n.930A>T c.163-2322A>T (n.163-2322A>T) c.*366A>T (n.*366A>T) c.346A>T (p.Lys116Ter) c.442A>T (p.Lys148Ter) c.421A>T (p.Lys141Ter) c.259A>T (p.Lys87Ter) n.692A>T n.1675A>T n.305A>T n.362A>T c.463A>T (p.Lys155Ter) | |
| 1 | g.201364321T>C | CA344205693 | TNNT2 | c.451A>G (p.Lys151Glu) c.436A>G (p.Lys146Glu) c.433A>G (p.Lys145Glu) c.466A>G (p.Lys156Glu) c.418A>G (p.Lys140Glu) n.930A>G c.163-2322A>G (n.163-2322A>G) c.*366A>G (n.*366A>G) c.346A>G (p.Lys116Glu) c.442A>G (p.Lys148Glu) c.421A>G (p.Lys141Glu) c.259A>G (p.Lys87Glu) n.692A>G n.1675A>G n.305A>G n.362A>G c.463A>G (p.Lys155Glu) | |
| 1 | g.201364321T>G | CA344205692 | TNNT2 | c.451A>C (p.Lys151Gln) c.436A>C (p.Lys146Gln) c.433A>C (p.Lys145Gln) c.466A>C (p.Lys156Gln) c.418A>C (p.Lys140Gln) n.930A>C c.163-2322A>C (n.163-2322A>C) c.*366A>C (n.*366A>C) c.346A>C (p.Lys116Gln) c.442A>C (p.Lys148Gln) c.421A>C (p.Lys141Gln) c.259A>C (p.Lys87Gln) n.692A>C n.1675A>C n.305A>C n.362A>C c.463A>C (p.Lys155Gln) | |
| 1 | g.201364322C>A | CA344205695 | TNNT2 | c.450G>T (p.Glu150Asp) c.435G>T (p.Glu145Asp) c.432G>T (p.Glu144Asp) c.465G>T (p.Glu155Asp) c.417G>T (p.Glu139Asp) n.929G>T c.163-2323G>T (n.163-2323G>T) c.*365G>T (n.*365G>T) c.345G>T (p.Glu115Asp) c.441G>T (p.Glu147Asp) c.420G>T (p.Glu140Asp) c.258G>T (p.Glu86Asp) n.691G>T n.1674G>T n.304G>T n.361G>T c.462G>T (p.Glu154Asp) | |
| 1 | g.201364322C= | CA1219711555 | TNNT2 | c.450G= (p.Glu150=) c.435G= (p.Glu145=) c.432G= (p.Glu144=) c.465G= (p.Glu155=) c.417G= (p.Glu139=) n.929G= c.163-2323G= (n.163-2323G=) c.*365G= (n.*365G=) c.345G= (p.Glu115=) c.441G= (p.Glu147=) c.420G= (p.Glu140=) c.258G= (p.Glu86=) n.691G= n.1674G= n.304G= n.361G= c.462G= (p.Glu154=) | |
| 1 | g.201364322C>G | CA344205696 | TNNT2 | c.450G>C (p.Glu150Asp) c.435G>C (p.Glu145Asp) c.432G>C (p.Glu144Asp) c.465G>C (p.Glu155Asp) c.417G>C (p.Glu139Asp) n.929G>C c.163-2323G>C (n.163-2323G>C) c.*365G>C (n.*365G>C) c.345G>C (p.Glu115Asp) c.441G>C (p.Glu147Asp) c.420G>C (p.Glu140Asp) c.258G>C (p.Glu86Asp) n.691G>C n.1674G>C n.304G>C n.361G>C c.462G>C (p.Glu154Asp) | |
| 1 | g.201364322C>T | CA089888 | TNNT2 | c.450G>A (p.Glu150=) c.435G>A (p.Glu145=) c.432G>A (p.Glu144=) c.465G>A (p.Glu155=) c.417G>A (p.Glu139=) n.929G>A c.163-2323G>A (n.163-2323G>A) c.*365G>A (n.*365G>A) c.345G>A (p.Glu115=) c.441G>A (p.Glu147=) c.420G>A (p.Glu140=) c.258G>A (p.Glu86=) n.691G>A n.1674G>A n.304G>A n.361G>A c.462G>A (p.Glu154=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201364323T>A | CA344205699 | TNNT2 | c.449A>T (p.Glu150Val) c.434A>T (p.Glu145Val) c.431A>T (p.Glu144Val) c.464A>T (p.Glu155Val) c.416A>T (p.Glu139Val) n.928A>T c.163-2324A>T (n.163-2324A>T) c.*364A>T (n.*364A>T) c.344A>T (p.Glu115Val) c.440A>T (p.Glu147Val) c.419A>T (p.Glu140Val) c.257A>T (p.Glu86Val) n.690A>T n.1673A>T n.303A>T n.360A>T c.461A>T (p.Glu154Val) | |
| 1 | g.201364323T>C | CA028834 | TNNT2 | c.449A>G (p.Glu150Gly) c.434A>G (p.Glu145Gly) c.431A>G (p.Glu144Gly) c.464A>G (p.Glu155Gly) c.416A>G (p.Glu139Gly) n.928A>G c.163-2324A>G (n.163-2324A>G) c.*364A>G (n.*364A>G) c.344A>G (p.Glu115Gly) c.440A>G (p.Glu147Gly) c.419A>G (p.Glu140Gly) c.257A>G (p.Glu86Gly) n.690A>G n.1673A>G n.303A>G n.360A>G c.461A>G (p.Glu154Gly) | |
| 1 | g.201364323T>G | CA344205704 | TNNT2 | c.449A>C (p.Glu150Ala) c.434A>C (p.Glu145Ala) c.431A>C (p.Glu144Ala) c.464A>C (p.Glu155Ala) c.416A>C (p.Glu139Ala) n.928A>C c.163-2324A>C (n.163-2324A>C) c.*364A>C (n.*364A>C) c.344A>C (p.Glu115Ala) c.440A>C (p.Glu147Ala) c.419A>C (p.Glu140Ala) c.257A>C (p.Glu86Ala) n.690A>C n.1673A>C n.303A>C n.360A>C c.461A>C (p.Glu154Ala) | |
| 1 | g.201364324C>A | CA344205708 | TNNT2 | c.448G>T (p.Glu150Ter) c.433G>T (p.Glu145Ter) c.430G>T (p.Glu144Ter) c.463G>T (p.Glu155Ter) c.415G>T (p.Glu139Ter) n.927G>T c.163-2325G>T (n.163-2325G>T) c.*363G>T (n.*363G>T) c.343G>T (p.Glu115Ter) c.439G>T (p.Glu147Ter) c.418G>T (p.Glu140Ter) c.256G>T (p.Glu86Ter) n.689G>T n.1672G>T n.302G>T n.359G>T c.460G>T (p.Glu154Ter) | gnomAD v4 |
| 1 | g.201364324C= | CA1219711556 | TNNT2 | c.448G= (p.Glu150=) c.433G= (p.Glu145=) c.430G= (p.Glu144=) c.463G= (p.Glu155=) c.415G= (p.Glu139=) n.927G= c.163-2325G= (n.163-2325G=) c.*363G= (n.*363G=) c.343G= (p.Glu115=) c.439G= (p.Glu147=) c.418G= (p.Glu140=) c.256G= (p.Glu86=) n.689G= n.1672G= n.302G= n.359G= c.460G= (p.Glu154=) | |
| 1 | g.201364324C>G | CA344205710 | TNNT2 | c.448G>C (p.Glu150Gln) c.433G>C (p.Glu145Gln) c.430G>C (p.Glu144Gln) c.463G>C (p.Glu155Gln) c.415G>C (p.Glu139Gln) n.927G>C c.163-2325G>C (n.163-2325G>C) c.*363G>C (n.*363G>C) c.343G>C (p.Glu115Gln) c.439G>C (p.Glu147Gln) c.418G>C (p.Glu140Gln) c.256G>C (p.Glu86Gln) n.689G>C n.1672G>C n.302G>C n.359G>C c.460G>C (p.Glu154Gln) | |
| 1 | g.201364324C>T | CA35422542 | TNNT2 | c.448G>A (p.Glu150Lys) c.433G>A (p.Glu145Lys) c.430G>A (p.Glu144Lys) c.463G>A (p.Glu155Lys) c.415G>A (p.Glu139Lys) n.927G>A c.163-2325G>A (n.163-2325G>A) c.*363G>A (n.*363G>A) c.343G>A (p.Glu115Lys) c.439G>A (p.Glu147Lys) c.418G>A (p.Glu140Lys) c.256G>A (p.Glu86Lys) n.689G>A n.1672G>A n.302G>A n.359G>A c.460G>A (p.Glu154Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201364325C>A | CA422532203 | TNNT2 | c.447G>T (p.Arg149=) c.432G>T (p.Arg144=) c.429G>T (p.Arg143=) c.462G>T (p.Arg154=) c.414G>T (p.Arg138=) n.926G>T c.163-2326G>T (n.163-2326G>T) c.*362G>T (n.*362G>T) c.342G>T (p.Arg114=) c.438G>T (p.Arg146=) c.417G>T (p.Arg139=) c.255G>T (p.Arg85=) n.688G>T n.1671G>T n.301G>T n.358G>T c.459G>T (p.Arg153=) | |
| 1 | g.201364325C>G | CA422532202 | TNNT2 | c.447G>C (p.Arg149=) c.432G>C (p.Arg144=) c.429G>C (p.Arg143=) c.462G>C (p.Arg154=) c.414G>C (p.Arg138=) n.926G>C c.163-2326G>C (n.163-2326G>C) c.*362G>C (n.*362G>C) c.342G>C (p.Arg114=) c.438G>C (p.Arg146=) c.417G>C (p.Arg139=) c.255G>C (p.Arg85=) n.688G>C n.1671G>C n.301G>C n.358G>C c.459G>C (p.Arg153=) | |
| 1 | g.201364325C>T | CA422532201 | TNNT2 | c.447G>A (p.Arg149=) c.432G>A (p.Arg144=) c.429G>A (p.Arg143=) c.462G>A (p.Arg154=) c.414G>A (p.Arg138=) n.926G>A c.163-2326G>A (n.163-2326G>A) c.*362G>A (n.*362G>A) c.342G>A (p.Arg114=) c.438G>A (p.Arg146=) c.417G>A (p.Arg139=) c.255G>A (p.Arg85=) n.688G>A n.1671G>A n.301G>A n.358G>A c.459G>A (p.Arg153=) | |
| 1 | g.201364326C>A | CA344205713 | TNNT2 | c.446G>T (p.Arg149Leu) c.431G>T (p.Arg144Leu) c.428G>T (p.Arg143Leu) c.461G>T (p.Arg154Leu) c.413G>T (p.Arg138Leu) n.925G>T c.163-2327G>T (n.163-2327G>T) c.*361G>T (n.*361G>T) c.341G>T (p.Arg114Leu) c.437G>T (p.Arg146Leu) c.416G>T (p.Arg139Leu) c.254G>T (p.Arg85Leu) n.687G>T n.1670G>T n.300G>T n.357G>T c.458G>T (p.Arg153Leu) | |
| 1 | g.201364326C= | CA1148250711 | TNNT2 | c.446G= (p.Arg149=) c.431G= (p.Arg144=) c.428G= (p.Arg143=) c.461G= (p.Arg154=) c.413G= (p.Arg138=) n.925G= c.163-2327G= (n.163-2327G=) c.*361G= (n.*361G=) c.341G= (p.Arg114=) c.437G= (p.Arg146=) c.416G= (p.Arg139=) c.254G= (p.Arg85=) n.687G= n.1670G= n.300G= n.357G= c.458G= (p.Arg153=) | |
| 1 | g.201364326C>G | CA344205714 | TNNT2 | c.446G>C (p.Arg149Pro) c.431G>C (p.Arg144Pro) c.428G>C (p.Arg143Pro) c.461G>C (p.Arg154Pro) c.413G>C (p.Arg138Pro) n.925G>C c.163-2327G>C (n.163-2327G>C) c.*361G>C (n.*361G>C) c.341G>C (p.Arg114Pro) c.437G>C (p.Arg146Pro) c.416G>C (p.Arg139Pro) c.254G>C (p.Arg85Pro) n.687G>C n.1670G>C n.300G>C n.357G>C c.458G>C (p.Arg153Pro) | |
| 1 | g.201364326C>T | CA089010 | TNNT2 | c.446G>A (p.Arg149Gln) c.431G>A (p.Arg144Gln) c.428G>A (p.Arg143Gln) c.461G>A (p.Arg154Gln) c.413G>A (p.Arg138Gln) n.925G>A c.163-2327G>A (n.163-2327G>A) c.*361G>A (n.*361G>A) c.341G>A (p.Arg114Gln) c.437G>A (p.Arg146Gln) c.416G>A (p.Arg139Gln) c.254G>A (p.Arg85Gln) n.687G>A n.1670G>A n.300G>A n.357G>A c.458G>A (p.Arg153Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |