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 |
|---|---|---|---|---|---|
| 19 | g.55154028_55154043delinsACCTTCTCGGTGTCCT | CA2343273704 | TNNI3 | c.536_549+2delinsAGGACACCGAGAAGGT c.569_582+2delinsAGGACACCGAGAAGGT n.535_548+2delinsAGGACACCGAGAAGGT c.461_474+2delinsAGGACACCGAGAAGGT n.364_377+2delinsAGGACACCGAGAAGGT | |
| 19 | g.55154035_55154049del | CA2343273705 | TNNI3 | c.536_549+1del c.569_582+1del n.535_548+1del c.461_474+1del n.364_377+1del | ClinVar dbSNP |
| 19 | g.55154032_55154034del | CA2499225605 | TNNI3 | c.547_549del (p.Lys183del) c.580_582del (p.Lys194del) n.546_548del c.472_474del (p.Lys158del) n.375_377del | ClinVar dbSNP |
| 19 | g.55154031_55154032delinsAC | CA2580097804 | TNNI3 | c.547_548delinsGT (p.Lys183Val) c.580_581delinsGT (p.Lys194Val) n.546_547delinsGT c.472_473delinsGT (p.Lys158Val) n.375_376delinsGT | ClinVar |
| 19 | g.55154032T>A | CA407440186 | TNNI3 | c.547A>T (p.Lys183Ter) c.580A>T (p.Lys194Ter) n.546A>T c.472A>T (p.Lys158Ter) n.375A>T | |
| 19 | g.55154032T>C | CA021854 | TNNI3 | c.547A>G (p.Lys183Glu) c.580A>G (p.Lys194Glu) n.546A>G c.472A>G (p.Lys158Glu) n.375A>G | ClinVar dbSNP |
| 19 | g.55154032T>G | CA407440188 | TNNI3 | c.547A>C (p.Lys183Gln) c.580A>C (p.Lys194Gln) n.546A>C c.472A>C (p.Lys158Gln) n.375A>C | |
| 19 | g.55154032T= | CA2343273708 | TNNI3 | c.547A= (p.Lys183=) c.580A= (p.Lys194=) n.546A= c.472A= (p.Lys158=) n.375A= | |
| 19 | g.55154033C>A | CA407440189 | TNNI3 | c.546G>T (p.Glu182Asp) c.579G>T (p.Glu193Asp) n.545G>T c.471G>T (p.Glu157Asp) n.374G>T | |
| 19 | g.55154033C>G | CA407440191 | TNNI3 | c.546G>C (p.Glu182Asp) c.579G>C (p.Glu193Asp) n.545G>C c.471G>C (p.Glu157Asp) n.374G>C | |
| 19 | g.55154033C>T | CA508989366 | TNNI3 | c.546G>A (p.Glu182=) c.579G>A (p.Glu193=) n.545G>A c.471G>A (p.Glu157=) n.374G>A | ClinVar dbSNP |
| 19 | g.55154034T>A | CA407440193 | TNNI3 | c.545A>T (p.Glu182Val) c.578A>T (p.Glu193Val) n.544A>T c.470A>T (p.Glu157Val) n.373A>T | |
| 19 | g.55154034T>C | CA407440195 | TNNI3 | c.545A>G (p.Glu182Gly) c.578A>G (p.Glu193Gly) n.544A>G c.470A>G (p.Glu157Gly) n.373A>G | |
| 19 | g.55154034T>G | CA407440198 | TNNI3 | c.545A>C (p.Glu182Ala) c.578A>C (p.Glu193Ala) n.544A>C c.470A>C (p.Glu157Ala) n.373A>C | |
| 19 | g.55154035C>A | CA407440203 | TNNI3 | c.544G>T (p.Glu182Ter) c.577G>T (p.Glu193Ter) n.543G>T c.469G>T (p.Glu157Ter) n.372G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154035C= | CA2343273709 | TNNI3 | c.544G= (p.Glu182=) c.577G= (p.Glu193=) n.543G= c.469G= (p.Glu157=) n.372G= | |
| 19 | g.55154035C>G | CA407440200 | TNNI3 | c.544G>C (p.Glu182Gln) c.577G>C (p.Glu193Gln) n.543G>C c.469G>C (p.Glu157Gln) n.372G>C | |
| 19 | g.55154035C>T | CA021848 | TNNI3 | c.544G>A (p.Glu182Lys) c.577G>A (p.Glu193Lys) n.543G>A c.469G>A (p.Glu157Lys) n.372G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154036G>A | CA310148279 | TNNI3 | c.543C>T (p.Thr181=) c.576C>T (p.Thr192=) n.542C>T c.468C>T (p.Thr156=) n.371C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.55154036G>C | CA508989367 | TNNI3 | c.543C>G (p.Thr181=) c.576C>G (p.Thr192=) n.542C>G c.468C>G (p.Thr156=) n.371C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154036G= | CA2343273710 | TNNI3 | c.543C= (p.Thr181=) c.576C= (p.Thr192=) n.542C= c.468C= (p.Thr156=) n.371C= | |
| 19 | g.55154036G>T | CA508989368 | TNNI3 | c.543C>A (p.Thr181=) c.576C>A (p.Thr192=) n.542C>A c.468C>A (p.Thr156=) n.371C>A | gnomAD v4 |
| 19 | g.55154037del | CA2739289551 | TNNI3 | c.543del (p.Glu182ArgfsTer17) c.576del (p.Glu193ArgfsTer17) n.542del c.468del (p.Glu157ArgfsTer17) n.371del | |
| 19 | g.55154037G>A | CA407440205 | TNNI3 | c.542C>T (p.Thr181Ile) c.575C>T (p.Thr192Ile) n.541C>T c.467C>T (p.Thr156Ile) n.370C>T | dbSNP |
| 19 | g.55154037G>C | CA407440210 | TNNI3 | c.542C>G (p.Thr181Ser) c.575C>G (p.Thr192Ser) n.541C>G c.467C>G (p.Thr156Ser) n.370C>G | |
| 19 | g.55154037G>T | CA407440211 | TNNI3 | c.542C>A (p.Thr181Asn) c.575C>A (p.Thr192Asn) n.541C>A c.467C>A (p.Thr156Asn) n.370C>A | gnomAD v4 |
| 19 | g.55154038T>A | CA407440213 | TNNI3 | c.541A>T (p.Thr181Ser) c.574A>T (p.Thr192Ser) n.540A>T c.466A>T (p.Thr156Ser) n.369A>T | |
| 19 | g.55154038T>C | CA051716 | TNNI3 | c.541A>G (p.Thr181Ala) c.574A>G (p.Thr192Ala) n.540A>G c.466A>G (p.Thr156Ala) n.369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.55154038T>G | CA407440216 | TNNI3 | c.541A>C (p.Thr181Pro) c.574A>C (p.Thr192Pro) n.540A>C c.466A>C (p.Thr156Pro) n.369A>C | |
| 19 | g.55154038T= | CA2343273711 | TNNI3 | c.541A= (p.Thr181=) c.574A= (p.Thr192=) n.540A= c.466A= (p.Thr156=) n.369A= | |
| 19 | g.55154039G>A | CA508989369 | TNNI3 | c.540C>T (p.Asp180=) c.573C>T (p.Asp191=) n.539C>T c.465C>T (p.Asp155=) n.368C>T | |
| 19 | g.55154039G>C | CA407440217 | TNNI3 | c.540C>G (p.Asp180Glu) c.573C>G (p.Asp191Glu) n.539C>G c.465C>G (p.Asp155Glu) n.368C>G | |
| 19 | g.55154039G>T | CA407440219 | TNNI3 | c.540C>A (p.Asp180Glu) c.573C>A (p.Asp191Glu) n.539C>A c.465C>A (p.Asp155Glu) n.368C>A | gnomAD v4 |
| 19 | g.55154040T>A | CA407440221 | TNNI3 | c.539A>T (p.Asp180Val) c.572A>T (p.Asp191Val) n.538A>T c.464A>T (p.Asp155Val) n.367A>T | |
| 19 | g.55154040T>C | CA16609776 | TNNI3 | c.539A>G (p.Asp180Gly) c.572A>G (p.Asp191Gly) n.538A>G c.464A>G (p.Asp155Gly) n.367A>G | ClinVar dbSNP |
| 19 | g.55154040T>G | CA407440223 | TNNI3 | c.539A>C (p.Asp180Ala) c.572A>C (p.Asp191Ala) n.538A>C c.464A>C (p.Asp155Ala) n.367A>C | |
| 19 | g.55154040T= | CA2343273713 | TNNI3 | c.539A= (p.Asp180=) c.572A= (p.Asp191=) n.538A= c.464A= (p.Asp155=) n.367A= | |
| 19 | g.55154040_55154041delinsTC | CA2343273712 | TNNI3 | c.538_539delinsGA (p.Asp180=) c.571_572delinsGA (p.Asp191=) n.537_538delinsGA c.463_464delinsGA (p.Asp155=) n.366_367delinsGA | |
| 19 | g.55154044_55154046del | CA2580614977 | TNNI3 | c.537_539del (p.Glu179del) c.570_572del (p.Glu190del) n.536_538del c.462_464del (p.Glu154del) n.365_367del | ClinVar |
| 19 | g.55154041C>A | CA407440225 | TNNI3 | c.538G>T (p.Asp180Tyr) c.571G>T (p.Asp191Tyr) n.537G>T c.463G>T (p.Asp155Tyr) n.366G>T | |
| 19 | g.55154041C= | CA2343273714 | TNNI3 | c.538G= (p.Asp180=) c.571G= (p.Asp191=) n.537G= c.463G= (p.Asp155=) n.366G= | |
| 19 | g.55154041C>G | CA407440227 | TNNI3 | c.538G>C (p.Asp180His) c.571G>C (p.Asp191His) n.537G>C c.463G>C (p.Asp155His) n.366G>C | |
| 19 | g.55154041C>T | CA16616429 | TNNI3 | c.538G>A (p.Asp180Asn) c.571G>A (p.Asp191Asn) n.537G>A c.463G>A (p.Asp155Asn) n.366G>A | ClinVar dbSNP |
| 19 | g.55154042del | CA10577115 | TNNI3 | c.538del (p.Asp180ThrfsTer19) c.571del (p.Asp191ThrfsTer19) n.537del c.463del (p.Asp155ThrfsTer19) n.366del | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154042C>A | CA407440228 | TNNI3 | c.537G>T (p.Glu179Asp) c.570G>T (p.Glu190Asp) n.536G>T c.462G>T (p.Glu154Asp) n.365G>T | |
| 19 | g.55154042C= | CA2343273716 | TNNI3 | c.537G= (p.Glu179=) c.570G= (p.Glu190=) n.536G= c.462G= (p.Glu154=) n.365G= | |
| 19 | g.55154042C>G | CA407440230 | TNNI3 | c.537G>C (p.Glu179Asp) c.570G>C (p.Glu190Asp) n.536G>C c.462G>C (p.Glu154Asp) n.365G>C | |
| 19 | g.55154042C>T | CA021842 | TNNI3 | c.537G>A (p.Glu179=) c.570G>A (p.Glu190=) n.536G>A c.462G>A (p.Glu154=) n.365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154042_55154043delinsCT | CA2343273715 | TNNI3 | c.536_537delinsAG (p.Glu179=) c.569_570delinsAG (p.Glu190=) n.535_536delinsAG c.461_462delinsAG (p.Glu154=) n.364_365delinsAG | |
| 19 | g.55154043del | CA883722022 | TNNI3 | c.536del (p.Glu179GlyfsTer20) c.569del (p.Glu190GlyfsTer20) n.535del c.461del (p.Glu154GlyfsTer20) n.364del | ClinVar dbSNP |
| 19 | g.55154043T>A | CA407440234 | TNNI3 | c.536A>T (p.Glu179Val) c.569A>T (p.Glu190Val) n.535A>T c.461A>T (p.Glu154Val) n.364A>T | |
| 19 | g.55154043T>C | CA407440236 | TNNI3 | c.536A>G (p.Glu179Gly) c.569A>G (p.Glu190Gly) n.535A>G c.461A>G (p.Glu154Gly) n.364A>G | ClinVar dbSNP |
| 19 | g.55154043T>G | CA407440238 | TNNI3 | c.536A>C (p.Glu179Ala) c.569A>C (p.Glu190Ala) n.535A>C c.461A>C (p.Glu154Ala) n.364A>C | |
| 19 | g.55154044C>A | CA407440239 | TNNI3 | c.535G>T (p.Glu179Ter) c.568G>T (p.Glu190Ter) n.534G>T c.460G>T (p.Glu154Ter) n.363G>T | |
| 19 | g.55154044C>G | CA407440241 | TNNI3 | c.535G>C (p.Glu179Gln) c.568G>C (p.Glu190Gln) n.534G>C c.460G>C (p.Glu154Gln) n.363G>C | ClinVar dbSNP |
| 19 | g.55154044C>T | CA407440242 | TNNI3 | c.535G>A (p.Glu179Lys) c.568G>A (p.Glu190Lys) n.534G>A c.460G>A (p.Glu154Lys) n.363G>A | |
| 19 | g.55154044_55154047delinsCCTT | CA2343273717 | TNNI3 | c.532_535delinsAAGG (p.Lys178=) c.565_568delinsAAGG (p.Lys189=) n.531_534delinsAAGG c.457_460delinsAAGG (p.Lys153=) n.360_363delinsAAGG | |
| 19 | g.55154045C>A | CA407440244 | TNNI3 | c.534G>T (p.Lys178Asn) c.567G>T (p.Lys189Asn) n.533G>T c.459G>T (p.Lys153Asn) n.362G>T | ClinVar |
| 19 | g.55154045C= | CA2343273718 | TNNI3 | c.534G= (p.Lys178=) c.567G= (p.Lys189=) n.533G= c.459G= (p.Lys153=) n.362G= | |
| 19 | g.55154045C>G | CA407440246 | TNNI3 | c.534G>C (p.Lys178Asn) c.567G>C (p.Lys189Asn) n.533G>C c.459G>C (p.Lys153Asn) n.362G>C | |
| 19 | g.55154045C>T | CA508989370 | TNNI3 | c.534G>A (p.Lys178=) c.567G>A (p.Lys189=) n.533G>A c.459G>A (p.Lys153=) n.362G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154049_55154051del | CA021828 | TNNI3 | c.532_534del (p.Lys178del) c.565_567del (p.Lys189del) n.531_533del c.457_459del (p.Lys153del) n.360_362del | ClinVar dbSNP |
| 19 | g.55154046T>A | CA407440251 | TNNI3 | c.533A>T (p.Lys178Met) c.566A>T (p.Lys189Met) n.532A>T c.458A>T (p.Lys153Met) n.361A>T | |
| 19 | g.55154046T>C | CA407440249 | TNNI3 | c.533A>G (p.Lys178Arg) c.566A>G (p.Lys189Arg) n.532A>G c.458A>G (p.Lys153Arg) n.361A>G | ClinVar dbSNP |
| 19 | g.55154046T>G | CA407440248 | TNNI3 | c.533A>C (p.Lys178Thr) c.566A>C (p.Lys189Thr) n.532A>C c.458A>C (p.Lys153Thr) n.361A>C | ClinVar |
| 19 | g.55154046T= | CA2343273719 | TNNI3 | c.533A= (p.Lys178=) c.566A= (p.Lys189=) n.532A= c.458A= (p.Lys153=) n.361A= | |
| 19 | g.55154047T>A | CA407440252 | TNNI3 | c.532A>T (p.Lys178Ter) c.565A>T (p.Lys189Ter) n.531A>T c.457A>T (p.Lys153Ter) n.360A>T | |
| 19 | g.55154047T>C | CA021835 | TNNI3 | c.532A>G (p.Lys178Glu) c.565A>G (p.Lys189Glu) n.531A>G c.457A>G (p.Lys153Glu) n.360A>G | ClinVar dbSNP |
| 19 | g.55154047T>G | CA407440254 | TNNI3 | c.532A>C (p.Lys178Gln) c.565A>C (p.Lys189Gln) n.531A>C c.457A>C (p.Lys153Gln) n.360A>C | |
| 19 | g.55154047T= | CA2343273720 | TNNI3 | c.532A= (p.Lys178=) c.565A= (p.Lys189=) n.531A= c.457A= (p.Lys153=) n.360A= | |
| 19 | g.55154048C>A | CA407440256 | TNNI3 | c.531G>T (p.Lys177Asn) c.564G>T (p.Lys188Asn) n.530G>T c.456G>T (p.Lys152Asn) n.359G>T | ClinVar |
| 19 | g.55154048C>G | CA407440257 | TNNI3 | c.531G>C (p.Lys177Asn) c.564G>C (p.Lys188Asn) n.530G>C c.456G>C (p.Lys152Asn) n.359G>C | |
| 19 | g.55154048C>T | CA508989371 | TNNI3 | c.531G>A (p.Lys177=) c.564G>A (p.Lys188=) n.530G>A c.456G>A (p.Lys152=) n.359G>A | |
| 19 | g.55154049T>A | CA407440259 | TNNI3 | c.530A>T (p.Lys177Met) c.563A>T (p.Lys188Met) n.529A>T c.455A>T (p.Lys152Met) n.358A>T | |
| 19 | g.55154049T>C | CA407440262 | TNNI3 | c.530A>G (p.Lys177Arg) c.563A>G (p.Lys188Arg) n.529A>G c.455A>G (p.Lys152Arg) n.358A>G | |
| 19 | g.55154049T>G | CA407440263 | TNNI3 | c.530A>C (p.Lys177Thr) c.563A>C (p.Lys188Thr) n.529A>C c.455A>C (p.Lys152Thr) n.358A>C | |
| 19 | g.55154049_55154050del | CA2695229157 | TNNI3 | c.529_530del (p.Lys177GlufsTer?) c.562_563del (p.Lys188GlufsTer?) n.528_529del c.454_455del (p.Lys152GlufsTer?) n.357_358del | |
| 19 | g.55154050T>A | CA407440264 | TNNI3 | c.529A>T (p.Lys177Ter) c.562A>T (p.Lys188Ter) n.528A>T c.454A>T (p.Lys152Ter) n.357A>T | |
| 19 | g.55154050T>C | CA407440265 | TNNI3 | c.529A>G (p.Lys177Glu) c.562A>G (p.Lys188Glu) n.528A>G c.454A>G (p.Lys152Glu) n.357A>G | |
| 19 | g.55154050T>G | CA407440266 | TNNI3 | c.529A>C (p.Lys177Gln) c.562A>C (p.Lys188Gln) n.528A>C c.454A>C (p.Lys152Gln) n.357A>C | |
| 19 | g.55154051C>A | CA508989372 | TNNI3 | c.528G>T (p.Val176=) c.561G>T (p.Val187=) n.527G>T c.453G>T (p.Val151=) n.356G>T | |
| 19 | g.55154051C>G | CA508989373 | TNNI3 | c.528G>C (p.Val176=) c.561G>C (p.Val187=) n.527G>C c.453G>C (p.Val151=) n.356G>C | |
| 19 | g.55154051C>T | CA508989374 | TNNI3 | c.528G>A (p.Val176=) c.561G>A (p.Val187=) n.527G>A c.453G>A (p.Val151=) n.356G>A | gnomAD v4 |
| 19 | g.55154052A= | CA2343273721 | TNNI3 | c.527T= (p.Val176=) c.560T= (p.Val187=) n.526T= c.452T= (p.Val151=) n.355T= | |
| 19 | g.55154052A>C | CA407440267 | TNNI3 | c.527T>G (p.Val176Gly) c.560T>G (p.Val187Gly) n.526T>G c.452T>G (p.Val151Gly) n.355T>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154052A>G | CA407440268 | TNNI3 | c.527T>C (p.Val176Ala) c.560T>C (p.Val187Ala) n.526T>C c.452T>C (p.Val151Ala) n.355T>C | |
| 19 | g.55154052A>T | CA407440269 | TNNI3 | c.527T>A (p.Val176Glu) c.560T>A (p.Val187Glu) n.526T>A c.452T>A (p.Val151Glu) n.355T>A | |
| 19 | g.55154053C>A | CA407440271 | TNNI3 | c.526G>T (p.Val176Leu) c.559G>T (p.Val187Leu) n.525G>T c.451G>T (p.Val151Leu) n.354G>T | |
| 19 | g.55154053C= | CA2343273722 | TNNI3 | c.526G= (p.Val176=) c.559G= (p.Val187=) n.525G= c.451G= (p.Val151=) n.354G= | |
| 19 | g.55154053C>G | CA407440270 | TNNI3 | c.526G>C (p.Val176Leu) c.559G>C (p.Val187Leu) n.525G>C c.451G>C (p.Val151Leu) n.354G>C | |
| 19 | g.55154053C>T | CA021822 | TNNI3 | c.526G>A (p.Val176Met) c.559G>A (p.Val187Met) n.525G>A c.451G>A (p.Val151Met) n.354G>A | ClinVar dbSNP |
| 19 | g.55154054C>A | CA407440272 | TNNI3 | c.525G>T (p.Gln175His) c.558G>T (p.Gln186His) n.524G>T c.450G>T (p.Gln150His) n.353G>T | |
| 19 | g.55154054C= | CA2343273723 | TNNI3 | c.525G= (p.Gln175=) c.558G= (p.Gln186=) n.524G= c.450G= (p.Gln150=) n.353G= | |
| 19 | g.55154054C>G | CA021816 | TNNI3 | c.525G>C (p.Gln175His) c.558G>C (p.Gln186His) n.524G>C c.450G>C (p.Gln150His) n.353G>C | ClinVar dbSNP |
| 19 | g.55154054C>T | CA508989375 | TNNI3 | c.525G>A (p.Gln175=) c.558G>A (p.Gln186=) n.524G>A c.450G>A (p.Gln150=) n.353G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154055T>A | CA407440273 | TNNI3 | c.524A>T (p.Gln175Leu) c.557A>T (p.Gln186Leu) n.523A>T c.449A>T (p.Gln150Leu) n.352A>T | |
| 19 | g.55154055T>C | CA407440274 | TNNI3 | c.524A>G (p.Gln175Arg) c.557A>G (p.Gln186Arg) n.523A>G c.449A>G (p.Gln150Arg) n.352A>G | ClinVar |
| 19 | g.55154055T>G | CA407440275 | TNNI3 | c.524A>C (p.Gln175Pro) c.557A>C (p.Gln186Pro) n.523A>C c.449A>C (p.Gln150Pro) n.352A>C | ClinVar |
| 19 | g.55154056G>A | CA10581187 | TNNI3 | c.523C>T (p.Gln175Ter) c.556C>T (p.Gln186Ter) n.522C>T c.448C>T (p.Gln150Ter) n.351C>T | ClinVar dbSNP |
| 19 | g.55154056G>C | CA407440276 | TNNI3 | c.523C>G (p.Gln175Glu) c.556C>G (p.Gln186Glu) n.522C>G c.448C>G (p.Gln150Glu) n.351C>G | |
| 19 | g.55154056G= | CA2343273724 | TNNI3 | c.523C= (p.Gln175=) c.556C= (p.Gln186=) n.522C= c.448C= (p.Gln150=) n.351C= | |
| 19 | g.55154056G>T | CA407440277 | TNNI3 | c.523C>A (p.Gln175Lys) c.556C>A (p.Gln186Lys) n.522C>A c.448C>A (p.Gln150Lys) n.351C>A | ClinVar dbSNP |
| 19 | g.55154057C>A | CA407440278 | TNNI3 | c.522G>T (p.Lys174Asn) c.555G>T (p.Lys185Asn) n.521G>T c.447G>T (p.Lys149Asn) n.350G>T | COSMIC |
| 19 | g.55154057C= | CA2343273725 | TNNI3 | c.522G= (p.Lys174=) c.555G= (p.Lys185=) n.521G= c.447G= (p.Lys149=) n.350G= | |
| 19 | g.55154057C>G | CA021810 | TNNI3 | c.522G>C (p.Lys174Asn) c.555G>C (p.Lys185Asn) n.521G>C c.447G>C (p.Lys149Asn) n.350G>C | ClinVar dbSNP |
| 19 | g.55154057C>T | CA508989376 | TNNI3 | c.522G>A (p.Lys174=) c.555G>A (p.Lys185=) n.521G>A c.447G>A (p.Lys149=) n.350G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154058T>A | CA407440279 | TNNI3 | c.521A>T (p.Lys174Met) c.554A>T (p.Lys185Met) n.520A>T c.446A>T (p.Lys149Met) n.349A>T | |
| 19 | g.55154058T>C | CA407440280 | TNNI3 | c.521A>G (p.Lys174Arg) c.554A>G (p.Lys185Arg) n.520A>G c.446A>G (p.Lys149Arg) n.349A>G | |
| 19 | g.55154058T>G | CA021804 | TNNI3 | c.521A>C (p.Lys174Thr) c.554A>C (p.Lys185Thr) n.520A>C c.446A>C (p.Lys149Thr) n.349A>C | ClinVar dbSNP |
| 19 | g.55154058T= | CA2343273726 | TNNI3 | c.521A= (p.Lys174=) c.554A= (p.Lys185=) n.520A= c.446A= (p.Lys149=) n.349A= | |
| 19 | g.55154059T>A | CA407440283 | TNNI3 | c.520A>T (p.Lys174Ter) c.553A>T (p.Lys185Ter) n.519A>T c.445A>T (p.Lys149Ter) n.348A>T | |
| 19 | g.55154059T>C | CA407440282 | TNNI3 | c.520A>G (p.Lys174Glu) c.553A>G (p.Lys185Glu) n.519A>G c.445A>G (p.Lys149Glu) n.348A>G | |
| 19 | g.55154059T>G | CA407440281 | TNNI3 | c.520A>C (p.Lys174Gln) c.553A>C (p.Lys185Gln) n.519A>C c.445A>C (p.Lys149Gln) n.348A>C | ClinVar dbSNP |
| 19 | g.55154059T= | CA2343273727 | TNNI3 | c.520A= (p.Lys174=) c.553A= (p.Lys185=) n.519A= c.445A= (p.Lys149=) n.348A= | |
| 19 | g.55154060G>A | CA051699 | TNNI3 | c.519C>T (p.Leu173=) c.552C>T (p.Leu184=) n.518C>T c.444C>T (p.Leu148=) n.347C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.55154060G>C | CA508989377 | TNNI3 | c.519C>G (p.Leu173=) c.552C>G (p.Leu184=) n.518C>G c.444C>G (p.Leu148=) n.347C>G | |
| 19 | g.55154060G= | CA2343273728 | TNNI3 | c.519C= (p.Leu173=) c.552C= (p.Leu184=) n.518C= c.444C= (p.Leu148=) n.347C= | |
| 19 | g.55154060G>T | CA508989378 | TNNI3 | c.519C>A (p.Leu173=) c.552C>A (p.Leu184=) n.518C>A c.444C>A (p.Leu148=) n.347C>A | gnomAD v4 |
| 19 | g.55154061A>C | CA407440284 | TNNI3 | c.518T>G (p.Leu173Arg) c.551T>G (p.Leu184Arg) n.517T>G c.443T>G (p.Leu148Arg) n.346T>G | |
| 19 | g.55154061A>G | CA407440285 | TNNI3 | c.518T>C (p.Leu173Pro) c.551T>C (p.Leu184Pro) n.517T>C c.443T>C (p.Leu148Pro) n.346T>C | |
| 19 | g.55154061A>T | CA407440286 | TNNI3 | c.518T>A (p.Leu173His) c.551T>A (p.Leu184His) n.517T>A c.443T>A (p.Leu148His) n.346T>A | |
| 19 | g.55154062G>A | CA407440287 | TNNI3 | c.517C>T (p.Leu173Phe) c.550C>T (p.Leu184Phe) n.516C>T c.442C>T (p.Leu148Phe) n.345C>T | |
| 19 | g.55154062G>C | CA407440288 | TNNI3 | c.517C>G (p.Leu173Val) c.550C>G (p.Leu184Val) n.516C>G c.442C>G (p.Leu148Val) n.345C>G | |
| 19 | g.55154062G>T | CA407440289 | TNNI3 | c.517C>A (p.Leu173Ile) c.550C>A (p.Leu184Ile) n.516C>A c.442C>A (p.Leu148Ile) n.345C>A | |
| 19 | g.55154063G>A | CA051692 | TNNI3 | c.516C>T (p.His172=) c.549C>T (p.His183=) n.515C>T c.441C>T (p.His147=) n.344C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154063G>C | CA407440290 | TNNI3 | c.516C>G (p.His172Gln) c.549C>G (p.His183Gln) n.515C>G c.441C>G (p.His147Gln) n.344C>G | |
| 19 | g.55154063G= | CA2343273729 | TNNI3 | c.516C= (p.His172=) c.549C= (p.His183=) n.515C= c.441C= (p.His147=) n.344C= | |
| 19 | g.55154063G>T | CA407440291 | TNNI3 | c.516C>A (p.His172Gln) c.549C>A (p.His183Gln) n.515C>A c.441C>A (p.His147Gln) n.344C>A | |
| 19 | g.55154064T>A | CA407440292 | TNNI3 | c.515A>T (p.His172Leu) c.548A>T (p.His183Leu) n.514A>T c.440A>T (p.His147Leu) n.343A>T | |
| 19 | g.55154064T>C | CA407440293 | TNNI3 | c.515A>G (p.His172Arg) c.548A>G (p.His183Arg) n.514A>G c.440A>G (p.His147Arg) n.343A>G | |
| 19 | g.55154064T>G | CA407440294 | TNNI3 | c.515A>C (p.His172Pro) c.548A>C (p.His183Pro) n.514A>C c.440A>C (p.His147Pro) n.343A>C | |
| 19 | g.55154064_55154094delinsTGGGCCCGCAGGTCCAGGGACTCCTTAGCCC | CA2343273730 | TNNI3 | c.485_515delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA (p.Arg162=) c.518_548delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA (p.Arg173=) n.484_514delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA c.410_440delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA (p.Arg137=) n.313_343delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA | |
| 19 | g.55154065G>A | CA407440296 | TNNI3 | c.514C>T (p.His172Tyr) c.547C>T (p.His183Tyr) n.513C>T c.439C>T (p.His147Tyr) n.342C>T | ClinVar dbSNP |
| 19 | g.55154065G>C | CA021797 | TNNI3 | c.514C>G (p.His172Asp) c.547C>G (p.His183Asp) n.513C>G c.439C>G (p.His147Asp) n.342C>G | ClinVar dbSNP |
| 19 | g.55154065G= | CA2343273731 | TNNI3 | c.514C= (p.His172=) c.547C= (p.His183=) n.513C= c.439C= (p.His147=) n.342C= | |
| 19 | g.55154065G>T | CA407440295 | TNNI3 | c.514C>A (p.His172Asn) c.547C>A (p.His183Asn) n.513C>A c.439C>A (p.His147Asn) n.342C>A | |
| 19 | g.55154071_55154100del | CA658658863 | TNNI3 | c.485_514del (p.Arg162_Ala171del) c.518_547del (p.Arg173_Ala182del) n.484_513del c.410_439del (p.Arg137_Ala146del) n.313_342del | ClinVar dbSNP |
| 19 | g.55154066G>A | CA508989379 | TNNI3 | c.513C>T (p.Ala171=) c.546C>T (p.Ala182=) n.512C>T c.438C>T (p.Ala146=) n.341C>T | gnomAD v4 |
| 19 | g.55154066G>C | CA508989380 | TNNI3 | c.513C>G (p.Ala171=) c.546C>G (p.Ala182=) n.512C>G c.438C>G (p.Ala146=) n.341C>G | |
| 19 | g.55154066G>T | CA508989381 | TNNI3 | c.513C>A (p.Ala171=) c.546C>A (p.Ala182=) n.512C>A c.438C>A (p.Ala146=) n.341C>A | |
| 19 | g.55154067G>A | CA407440297 | TNNI3 | c.512C>T (p.Ala171Val) c.545C>T (p.Ala182Val) n.511C>T c.437C>T (p.Ala146Val) n.340C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154067G>C | CA407440299 | TNNI3 | c.512C>G (p.Ala171Gly) c.545C>G (p.Ala182Gly) n.511C>G c.437C>G (p.Ala146Gly) n.340C>G | |
| 19 | g.55154067G= | CA2343273732 | TNNI3 | c.512C= (p.Ala171=) c.545C= (p.Ala182=) n.511C= c.437C= (p.Ala146=) n.340C= | |
| 19 | g.55154067G>T | CA407440298 | TNNI3 | c.512C>A (p.Ala171Asp) c.545C>A (p.Ala182Asp) n.511C>A c.437C>A (p.Ala146Asp) n.340C>A | gnomAD v4 |
| 19 | g.55154068C>A | CA407440300 | TNNI3 | c.511G>T (p.Ala171Ser) c.544G>T (p.Ala182Ser) n.510G>T c.436G>T (p.Ala146Ser) n.339G>T | |
| 19 | g.55154068C= | CA2343273733 | TNNI3 | c.511G= (p.Ala171=) c.544G= (p.Ala182=) n.510G= c.436G= (p.Ala146=) n.339G= | |
| 19 | g.55154068C>G | CA407440301 | TNNI3 | c.511G>C (p.Ala171Pro) c.544G>C (p.Ala182Pro) n.510G>C c.436G>C (p.Ala146Pro) n.339G>C | |
| 19 | g.55154068C>T | CA021791 | TNNI3 | c.511G>A (p.Ala171Thr) c.544G>A (p.Ala182Thr) n.510G>A c.436G>A (p.Ala146Thr) n.339G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154069C>A | CA508989382 | TNNI3 | c.510G>T (p.Arg170=) c.543G>T (p.Arg181=) n.509G>T c.435G>T (p.Arg145=) n.338G>T | |
| 19 | g.55154069C>G | CA508989383 | TNNI3 | c.510G>C (p.Arg170=) c.543G>C (p.Arg181=) n.509G>C c.435G>C (p.Arg145=) n.338G>C | |
| 19 | g.55154069C>T | CA508989384 | TNNI3 | c.510G>A (p.Arg170=) c.543G>A (p.Arg181=) n.509G>A c.435G>A (p.Arg145=) n.338G>A | |
| 19 | g.55154070C>A | CA407440302 | TNNI3 | c.509G>T (p.Arg170Leu) c.542G>T (p.Arg181Leu) n.508G>T c.434G>T (p.Arg145Leu) n.337G>T | |
| 19 | g.55154070C= | CA2343273734 | TNNI3 | c.509G= (p.Arg170=) c.542G= (p.Arg181=) n.508G= c.434G= (p.Arg145=) n.337G= | |
| 19 | g.55154070C>G | CA407440303 | TNNI3 | c.509G>C (p.Arg170Pro) c.542G>C (p.Arg181Pro) n.508G>C c.434G>C (p.Arg145Pro) n.337G>C | ClinVar |
| 19 | g.55154070C>T | CA021784 | TNNI3 | c.509G>A (p.Arg170Gln) c.542G>A (p.Arg181Gln) n.508G>A c.434G>A (p.Arg145Gln) n.337G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.55154071G>A | CA021778 | TNNI3 | c.508C>T (p.Arg170Trp) c.541C>T (p.Arg181Trp) n.507C>T c.433C>T (p.Arg145Trp) n.336C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154071G>C | CA021769 | TNNI3 | c.508C>G (p.Arg170Gly) c.541C>G (p.Arg181Gly) n.507C>G c.433C>G (p.Arg145Gly) n.336C>G | ClinVar dbSNP |
| 19 | g.55154071G= | CA2343273735 | TNNI3 | c.508C= (p.Arg170=) c.541C= (p.Arg181=) n.507C= c.433C= (p.Arg145=) n.336C= | |
| 19 | g.55154071G>T | CA508989385 | TNNI3 | c.508C>A (p.Arg170=) c.541C>A (p.Arg181=) n.507C>A c.433C>A (p.Arg145=) n.336C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154072C>A | CA508989386 | TNNI3 | c.507G>T (p.Leu169=) c.540G>T (p.Leu180=) n.506G>T c.432G>T (p.Leu144=) n.335G>T | |
| 19 | g.55154072C= | CA2343273736 | TNNI3 | c.507G= (p.Leu169=) c.540G= (p.Leu180=) n.506G= c.432G= (p.Leu144=) n.335G= | |
| 19 | g.55154072C>G | CA508989387 | TNNI3 | c.507G>C (p.Leu169=) c.540G>C (p.Leu180=) n.506G>C c.432G>C (p.Leu144=) n.335G>C | |
| 19 | g.55154072C>T | CA508989388 | TNNI3 | c.507G>A (p.Leu169=) c.540G>A (p.Leu180=) n.506G>A c.432G>A (p.Leu144=) n.335G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154073del | CA2695229158 | TNNI3 | c.506del (p.Leu169ArgfsTer8) c.539del (p.Leu180ArgfsTer8) n.505del c.431del (p.Leu144ArgfsTer8) n.334del | |
| 19 | g.55154073A>C | CA407440304 | TNNI3 | c.506T>G (p.Leu169Arg) c.539T>G (p.Leu180Arg) n.505T>G c.431T>G (p.Leu144Arg) n.334T>G | |
| 19 | g.55154073A>G | CA407440305 | TNNI3 | c.506T>C (p.Leu169Pro) c.539T>C (p.Leu180Pro) n.505T>C c.431T>C (p.Leu144Pro) n.334T>C | ClinVar dbSNP |
| 19 | g.55154073A>T | CA407440306 | TNNI3 | c.506T>A (p.Leu169Gln) c.539T>A (p.Leu180Gln) n.505T>A c.431T>A (p.Leu144Gln) n.334T>A | |
| 19 | g.55154074G>A | CA508989389 | TNNI3 | c.505C>T (p.Leu169=) c.538C>T (p.Leu180=) n.504C>T c.430C>T (p.Leu144=) n.333C>T | |
| 19 | g.55154074G>C | CA407440307 | TNNI3 | c.505C>G (p.Leu169Val) c.538C>G (p.Leu180Val) n.504C>G c.430C>G (p.Leu144Val) n.333C>G | |
| 19 | g.55154074G>T | CA407440308 | TNNI3 | c.505C>A (p.Leu169Met) c.538C>A (p.Leu180Met) n.504C>A c.430C>A (p.Leu144Met) n.333C>A | |
| 19 | g.55154075G>A | CA508989390 | TNNI3 | c.504C>T (p.Asp168=) c.537C>T (p.Asp179=) n.503C>T c.429C>T (p.Asp143=) n.332C>T | gnomAD v4 |
| 19 | g.55154075G>C | CA407440309 | TNNI3 | c.504C>G (p.Asp168Glu) c.537C>G (p.Asp179Glu) n.503C>G c.429C>G (p.Asp143Glu) n.332C>G | |
| 19 | g.55154075G= | CA2343273737 | TNNI3 | c.504C= (p.Asp168=) c.537C= (p.Asp179=) n.503C= c.429C= (p.Asp143=) n.332C= | |
| 19 | g.55154075G>T | CA407440310 | TNNI3 | c.504C>A (p.Asp168Glu) c.537C>A (p.Asp179Glu) n.503C>A c.429C>A (p.Asp143Glu) n.332C>A | dbSNP gnomAD v2 |
| 19 | g.55154076T>A | CA407440311 | TNNI3 | c.503A>T (p.Asp168Val) c.536A>T (p.Asp179Val) n.502A>T c.428A>T (p.Asp143Val) n.331A>T | |
| 19 | g.55154076T>C | CA407440312 | TNNI3 | c.503A>G (p.Asp168Gly) c.536A>G (p.Asp179Gly) n.502A>G c.428A>G (p.Asp143Gly) n.331A>G | |
| 19 | g.55154076T>G | CA407440313 | TNNI3 | c.503A>C (p.Asp168Ala) c.536A>C (p.Asp179Ala) n.502A>C c.428A>C (p.Asp143Ala) n.331A>C | |
| 19 | g.55154077C>A | CA407440314 | TNNI3 | c.502G>T (p.Asp168Tyr) c.535G>T (p.Asp179Tyr) n.501G>T c.427G>T (p.Asp143Tyr) n.330G>T | ClinVar |
| 19 | g.55154077C= | CA2343273738 | TNNI3 | c.502G= (p.Asp168=) c.535G= (p.Asp179=) n.501G= c.427G= (p.Asp143=) n.330G= | |
| 19 | g.55154077C>G | CA407440315 | TNNI3 | c.502G>C (p.Asp168His) c.535G>C (p.Asp179His) n.501G>C c.427G>C (p.Asp143His) n.330G>C | ClinVar dbSNP |
| 19 | g.55154077C>T | CA407440316 | TNNI3 | c.502G>A (p.Asp168Asn) c.535G>A (p.Asp179Asn) n.501G>A c.427G>A (p.Asp143Asn) n.330G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154078del | CA2695229159 | TNNI3 | c.502del (p.Asp168ThrfsTer9) c.535del (p.Asp179ThrfsTer9) n.501del c.427del (p.Asp143ThrfsTer9) n.330del | |
| 19 | g.55154078C>A | CA508989391 | TNNI3 | c.501G>T (p.Leu167=) c.534G>T (p.Leu178=) n.500G>T c.426G>T (p.Leu142=) n.329G>T | |
| 19 | g.55154078C>G | CA508989392 | TNNI3 | c.501G>C (p.Leu167=) c.534G>C (p.Leu178=) n.500G>C c.426G>C (p.Leu142=) n.329G>C | |
| 19 | g.55154078C>T | CA508989393 | TNNI3 | c.501G>A (p.Leu167=) c.534G>A (p.Leu178=) n.500G>A c.426G>A (p.Leu142=) n.329G>A | gnomAD v4 |
| 19 | g.55154079A= | CA2343273739 | TNNI3 | c.500T= (p.Leu167=) c.533T= (p.Leu178=) n.499T= c.425T= (p.Leu142=) n.328T= | |
| 19 | g.55154079A>C | CA407440317 | TNNI3 | c.500T>G (p.Leu167Arg) c.533T>G (p.Leu178Arg) n.499T>G c.425T>G (p.Leu142Arg) n.328T>G | |
| 19 | g.55154079A>G | CA407440318 | TNNI3 | c.500T>C (p.Leu167Pro) c.533T>C (p.Leu178Pro) n.499T>C c.425T>C (p.Leu142Pro) n.328T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154079A>T | CA407440319 | TNNI3 | c.500T>A (p.Leu167Gln) c.533T>A (p.Leu178Gln) n.499T>A c.425T>A (p.Leu142Gln) n.328T>A | gnomAD v4 |
| 19 | g.55154080G>A | CA508989394 | TNNI3 | c.499C>T (p.Leu167=) c.532C>T (p.Leu178=) n.498C>T c.424C>T (p.Leu142=) n.327C>T | dbSNP gnomAD v4 |
| 19 | g.55154080G>C | CA407440321 | TNNI3 | c.499C>G (p.Leu167Val) c.532C>G (p.Leu178Val) n.498C>G c.424C>G (p.Leu142Val) n.327C>G | |
| 19 | g.55154080G= | CA2343273740 | TNNI3 | c.499C= (p.Leu167=) c.532C= (p.Leu178=) n.498C= c.424C= (p.Leu142=) n.327C= | |
| 19 | g.55154080G>T | CA407440322 | TNNI3 | c.499C>A (p.Leu167Met) c.532C>A (p.Leu178Met) n.498C>A c.424C>A (p.Leu142Met) n.327C>A | |
| 19 | g.55154081G>A | CA508989397 | TNNI3 | c.498C>T (p.Ser166=) c.531C>T (p.Ser177=) n.497C>T c.423C>T (p.Ser141=) n.326C>T | COSMIC |
| 19 | g.55154081G>C | CA508989396 | TNNI3 | c.498C>G (p.Ser166=) c.531C>G (p.Ser177=) n.497C>G c.423C>G (p.Ser141=) n.326C>G | |
| 19 | g.55154081G>T | CA508989395 | TNNI3 | c.498C>A (p.Ser166=) c.531C>A (p.Ser177=) n.497C>A c.423C>A (p.Ser141=) n.326C>A | |
| 19 | g.55154082G>A | CA021763 | TNNI3 | c.497C>T (p.Ser166Phe) c.530C>T (p.Ser177Phe) n.496C>T c.422C>T (p.Ser141Phe) n.325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154082G>C | CA407440326 | TNNI3 | c.497C>G (p.Ser166Cys) c.530C>G (p.Ser177Cys) n.496C>G c.422C>G (p.Ser141Cys) n.325C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154082G= | CA2343273741 | TNNI3 | c.497C= (p.Ser166=) c.530C= (p.Ser177=) n.496C= c.422C= (p.Ser141=) n.325C= | |
| 19 | g.55154082G>T | CA407440324 | TNNI3 | c.497C>A (p.Ser166Tyr) c.530C>A (p.Ser177Tyr) n.496C>A c.422C>A (p.Ser141Tyr) n.325C>A | |
| 19 | g.55154083A= | CA2343273742 | TNNI3 | c.496T= (p.Ser166=) c.529T= (p.Ser177=) n.495T= c.421T= (p.Ser141=) n.324T= | |
| 19 | g.55154083A>C | CA407440327 | TNNI3 | c.496T>G (p.Ser166Ala) c.529T>G (p.Ser177Ala) n.495T>G c.421T>G (p.Ser141Ala) n.324T>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154083A>G | CA407440328 | TNNI3 | c.496T>C (p.Ser166Pro) c.529T>C (p.Ser177Pro) n.495T>C c.421T>C (p.Ser141Pro) n.324T>C | ClinVar dbSNP |
| 19 | g.55154083A>T | CA407440330 | TNNI3 | c.496T>A (p.Ser166Thr) c.529T>A (p.Ser177Thr) n.495T>A c.421T>A (p.Ser141Thr) n.324T>A | |
| 19 | g.55154084C>A | CA407440331 | TNNI3 | c.495G>T (p.Glu165Asp) c.528G>T (p.Glu176Asp) n.494G>T c.420G>T (p.Glu140Asp) n.323G>T | |
| 19 | g.55154084C= | CA2343273743 | TNNI3 | c.495G= (p.Glu165=) c.528G= (p.Glu176=) n.494G= c.420G= (p.Glu140=) n.323G= | |
| 19 | g.55154084C>G | CA407440332 | TNNI3 | c.495G>C (p.Glu165Asp) c.528G>C (p.Glu176Asp) n.494G>C c.420G>C (p.Glu140Asp) n.323G>C | |
| 19 | g.55154084C>T | CA508989398 | TNNI3 | c.495G>A (p.Glu165=) c.528G>A (p.Glu176=) n.494G>A c.420G>A (p.Glu140=) n.323G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154085T>A | CA407440333 | TNNI3 | c.494A>T (p.Glu165Val) c.527A>T (p.Glu176Val) n.493A>T c.419A>T (p.Glu140Val) n.322A>T | |
| 19 | g.55154085T>C | CA407440334 | TNNI3 | c.494A>G (p.Glu165Gly) c.527A>G (p.Glu176Gly) n.493A>G c.419A>G (p.Glu140Gly) n.322A>G | |
| 19 | g.55154085T>G | CA407440336 | TNNI3 | c.494A>C (p.Glu165Ala) c.527A>C (p.Glu176Ala) n.493A>C c.419A>C (p.Glu140Ala) n.322A>C | |
| 19 | g.55154086C>A | CA16608300 | TNNI3 | c.493G>T (p.Glu165Ter) c.526G>T (p.Glu176Ter) n.492G>T c.418G>T (p.Glu140Ter) n.321G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154086C= | CA2343273744 | TNNI3 | c.493G= (p.Glu165=) c.526G= (p.Glu176=) n.492G= c.418G= (p.Glu140=) n.321G= | |
| 19 | g.55154086C>G | CA407440338 | TNNI3 | c.493G>C (p.Glu165Gln) c.526G>C (p.Glu176Gln) n.492G>C c.418G>C (p.Glu140Gln) n.321G>C | ClinVar dbSNP |
| 19 | g.55154086C>T | CA407440340 | TNNI3 | c.493G>A (p.Glu165Lys) c.526G>A (p.Glu176Lys) n.492G>A c.418G>A (p.Glu140Lys) n.321G>A | |
| 19 | g.55154087C>A | CA407440341 | TNNI3 | c.492G>T (p.Lys164Asn) c.525G>T (p.Lys175Asn) n.491G>T c.417G>T (p.Lys139Asn) n.320G>T | |
| 19 | g.55154087C>G | CA407440343 | TNNI3 | c.492G>C (p.Lys164Asn) c.525G>C (p.Lys175Asn) n.491G>C c.417G>C (p.Lys139Asn) n.320G>C | |
| 19 | g.55154087C>T | CA508989399 | TNNI3 | c.492G>A (p.Lys164=) c.525G>A (p.Lys175=) n.491G>A c.417G>A (p.Lys139=) n.320G>A | |
| 19 | g.55154088T>A | CA407440346 | TNNI3 | c.491A>T (p.Lys164Met) c.524A>T (p.Lys175Met) n.490A>T c.416A>T (p.Lys139Met) n.319A>T | |
| 19 | g.55154088T>C | CA407440344 | TNNI3 | c.491A>G (p.Lys164Arg) c.524A>G (p.Lys175Arg) n.490A>G c.416A>G (p.Lys139Arg) n.319A>G | |
| 19 | g.55154088T>G | CA310148369 | TNNI3 | c.491A>C (p.Lys164Thr) c.524A>C (p.Lys175Thr) n.490A>C c.416A>C (p.Lys139Thr) n.319A>C | dbSNP |
| 19 | g.55154088T= | CA2343273745 | TNNI3 | c.491A= (p.Lys164=) c.524A= (p.Lys175=) n.490A= c.416A= (p.Lys139=) n.319A= | |
| 19 | g.55154089T>A | CA407440347 | TNNI3 | c.490A>T (p.Lys164Ter) c.523A>T (p.Lys175Ter) n.489A>T c.415A>T (p.Lys139Ter) n.318A>T | |
| 19 | g.55154089T>C | CA407440348 | TNNI3 | c.490A>G (p.Lys164Glu) c.523A>G (p.Lys175Glu) n.489A>G c.415A>G (p.Lys139Glu) n.318A>G | ClinVar |
| 19 | g.55154089T>G | CA407440350 | TNNI3 | c.490A>C (p.Lys164Gln) c.523A>C (p.Lys175Gln) n.489A>C c.415A>C (p.Lys139Gln) n.318A>C | |
| 19 | g.55154090A= | CA2343273746 | TNNI3 | c.489T= (p.Ala163=) c.522T= (p.Ala174=) n.488T= c.414T= (p.Ala138=) n.317T= | |
| 19 | g.55154090A>C | CA508989400 | TNNI3 | c.489T>G (p.Ala163=) c.522T>G (p.Ala174=) n.488T>G c.414T>G (p.Ala138=) n.317T>G | |
| 19 | g.55154090A>G | CA508989401 | TNNI3 | c.489T>C (p.Ala163=) c.522T>C (p.Ala174=) n.488T>C c.414T>C (p.Ala138=) n.317T>C | dbSNP |
| 19 | g.55154090A>T | CA508989402 | TNNI3 | c.489T>A (p.Ala163=) c.522T>A (p.Ala174=) n.488T>A c.414T>A (p.Ala138=) n.317T>A | |
| 19 | g.55154091G>A | CA021757 | TNNI3 | c.488C>T (p.Ala163Val) c.521C>T (p.Ala174Val) n.487C>T c.413C>T (p.Ala138Val) n.316C>T | ClinVar dbSNP |
| 19 | g.55154091G>C | CA407440352 | TNNI3 | c.488C>G (p.Ala163Gly) c.521C>G (p.Ala174Gly) n.487C>G c.413C>G (p.Ala138Gly) n.316C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154091G= | CA2343273747 | TNNI3 | c.488C= (p.Ala163=) c.521C= (p.Ala174=) n.487C= c.413C= (p.Ala138=) n.316C= | |
| 19 | g.55154091G>T | CA407440354 | TNNI3 | c.488C>A (p.Ala163Asp) c.521C>A (p.Ala174Asp) n.487C>A c.413C>A (p.Ala138Asp) n.316C>A | COSMIC |
| 19 | g.55154091_55154092delinsGC | CA2343273748 | TNNI3 | c.487_488delinsGC (p.Ala163=) c.520_521delinsGC (p.Ala174=) n.486_487delinsGC c.412_413delinsGC (p.Ala138=) n.315_316delinsGC | |
| 19 | g.55154092C>A | CA407440355 | TNNI3 | c.487G>T (p.Ala163Ser) c.520G>T (p.Ala174Ser) n.486G>T c.412G>T (p.Ala138Ser) n.315G>T | |
| 19 | g.55154092C>G | CA407440357 | TNNI3 | c.487G>C (p.Ala163Pro) c.520G>C (p.Ala174Pro) n.486G>C c.412G>C (p.Ala138Pro) n.315G>C | ClinVar |
| 19 | g.55154092C>T | CA407440358 | TNNI3 | c.487G>A (p.Ala163Thr) c.520G>A (p.Ala174Thr) n.486G>A c.412G>A (p.Ala138Thr) n.315G>A | gnomAD v4 |
| 19 | g.55154094dup | CA2587243621 | TNNI3 | c.487dup (p.Ala163GlyfsTer2) c.520dup (p.Ala174GlyfsTer2) n.486dup c.412dup (p.Ala138GlyfsTer2) n.315dup | gnomAD v4 |
| 19 | g.55154094del | CA915953049 | TNNI3 | c.487del (p.Ala163LeufsTer14) c.520del (p.Ala174LeufsTer14) n.486del c.412del (p.Ala138LeufsTer14) n.315del | ClinVar dbSNP |
| 19 | g.55154093C>A | CA508989403 | TNNI3 | c.486G>T (p.Arg162=) c.519G>T (p.Arg173=) n.485G>T c.411G>T (p.Arg137=) n.314G>T | |
| 19 | g.55154093C= | CA2343273749 | TNNI3 | c.486G= (p.Arg162=) c.519G= (p.Arg173=) n.485G= c.411G= (p.Arg137=) n.314G= | |
| 19 | g.55154093C>G | CA508989404 | TNNI3 | c.486G>C (p.Arg162=) c.519G>C (p.Arg173=) n.485G>C c.411G>C (p.Arg137=) n.314G>C | |
| 19 | g.55154093C>T | CA508989405 | TNNI3 | c.486G>A (p.Arg162=) c.519G>A (p.Arg173=) n.485G>A c.411G>A (p.Arg137=) n.314G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154094C>A | CA407440359 | TNNI3 | c.485G>T (p.Arg162Leu) c.518G>T (p.Arg173Leu) n.484G>T c.410G>T (p.Arg137Leu) n.313G>T | ClinVar dbSNP |
| 19 | g.55154094C= | CA2343273750 | TNNI3 | c.485G= (p.Arg162=) c.518G= (p.Arg173=) n.484G= c.410G= (p.Arg137=) n.313G= | |
| 19 | g.55154094C>G | CA021749 | TNNI3 | c.485G>C (p.Arg162Pro) c.518G>C (p.Arg173Pro) n.484G>C c.410G>C (p.Arg137Pro) n.313G>C | ClinVar dbSNP |
| 19 | g.55154094C>T | CA021744 | TNNI3 | c.485G>A (p.Arg162Gln) c.518G>A (p.Arg173Gln) n.484G>A c.410G>A (p.Arg137Gln) n.313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.55154095G>A | CA021738 | TNNI3 | c.484C>T (p.Arg162Trp) c.517C>T (p.Arg173Trp) n.483C>T c.409C>T (p.Arg137Trp) n.312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154095G>C | CA407440362 | TNNI3 | c.484C>G (p.Arg162Gly) c.517C>G (p.Arg173Gly) n.483C>G c.409C>G (p.Arg137Gly) n.312C>G | dbSNP gnomAD v4 |
| 19 | g.55154095G= | CA2343273751 | TNNI3 | c.484C= (p.Arg162=) c.517C= (p.Arg173=) n.483C= c.409C= (p.Arg137=) n.312C= | |
| 19 | g.55154095G>T | CA508989406 | TNNI3 | c.484C>A (p.Arg162=) c.517C>A (p.Arg173=) n.483C>A c.409C>A (p.Arg137=) n.312C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.55154096G>A | CA508989407 | TNNI3 | c.483C>T (p.Ala161=) c.516C>T (p.Ala172=) n.482C>T c.408C>T (p.Ala136=) n.311C>T | |
| 19 | g.55154096G>C | CA508989408 | TNNI3 | c.483C>G (p.Ala161=) c.516C>G (p.Ala172=) n.482C>G c.408C>G (p.Ala136=) n.311C>G | |
| 19 | g.55154096G>T | CA508989409 | TNNI3 | c.483C>A (p.Ala161=) c.516C>A (p.Ala172=) n.482C>A c.408C>A (p.Ala136=) n.311C>A | |
| 19 | g.55154097G>A | CA051664 | TNNI3 | c.482C>T (p.Ala161Val) c.515C>T (p.Ala172Val) n.481C>T c.407C>T (p.Ala136Val) n.310C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154097G>C | CA407440366 | TNNI3 | c.482C>G (p.Ala161Gly) c.515C>G (p.Ala172Gly) n.481C>G c.407C>G (p.Ala136Gly) n.310C>G | |
| 19 | g.55154097G= | CA2343273752 | TNNI3 | c.482C= (p.Ala161=) c.515C= (p.Ala172=) n.481C= c.407C= (p.Ala136=) n.310C= | |
| 19 | g.55154097G>T | CA407440365 | TNNI3 | c.482C>A (p.Ala161Asp) c.515C>A (p.Ala172Asp) n.481C>A c.407C>A (p.Ala136Asp) n.310C>A | |
| 19 | g.55154097_55154098delinsGC | CA2343273753 | TNNI3 | c.481_482delinsGC (p.Ala161=) c.514_515delinsGC (p.Ala172=) n.480_481delinsGC c.406_407delinsGC (p.Ala136=) n.309_310delinsGC | |
| 19 | g.55154098C>A | CA407440368 | TNNI3 | c.481G>T (p.Ala161Ser) c.514G>T (p.Ala172Ser) n.480G>T c.406G>T (p.Ala136Ser) n.309G>T | |
| 19 | g.55154098C= | CA2343273755 | TNNI3 | c.481G= (p.Ala161=) c.514G= (p.Ala172=) n.480G= c.406G= (p.Ala136=) n.309G= | |
| 19 | g.55154098C>G | CA407440371 | TNNI3 | c.481G>C (p.Ala161Pro) c.514G>C (p.Ala172Pro) n.480G>C c.406G>C (p.Ala136Pro) n.309G>C | ClinVar |
| 19 | g.55154098C>T | CA407440369 | TNNI3 | c.481G>A (p.Ala161Thr) c.514G>A (p.Ala172Thr) n.480G>A c.406G>A (p.Ala136Thr) n.309G>A | dbSNP gnomAD v4 |
| 19 | g.55154102dup | CA633906546 | TNNI3 | c.481dup (p.Ala161GlyfsTer4) c.514dup (p.Ala172GlyfsTer4) n.480dup c.406dup (p.Ala136GlyfsTer4) n.309dup | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154102del | CA2343273754 | TNNI3 | c.481del (p.Ala161ProfsTer16) c.514del (p.Ala172ProfsTer16) n.480del c.406del (p.Ala136ProfsTer16) n.309del | ClinVar dbSNP |
| 19 | g.55154099C>A | CA508989410 | TNNI3 | c.480G>T (p.Gly160=) c.513G>T (p.Gly171=) n.479G>T c.405G>T (p.Gly135=) n.308G>T | gnomAD v4 |
| 19 | g.55154099C>G | CA508989411 | TNNI3 | c.480G>C (p.Gly160=) c.513G>C (p.Gly171=) n.479G>C c.405G>C (p.Gly135=) n.308G>C | gnomAD v4 |
| 19 | g.55154099C>T | CA508989412 | TNNI3 | c.480G>A (p.Gly160=) c.513G>A (p.Gly171=) n.479G>A c.405G>A (p.Gly135=) n.308G>A | |
| 19 | g.55154100C>A | CA407440372 | TNNI3 | c.479G>T (p.Gly160Val) c.512G>T (p.Gly171Val) n.478G>T c.404G>T (p.Gly135Val) n.307G>T | |
| 19 | g.55154100C= | CA2343273756 | TNNI3 | c.479G= (p.Gly160=) c.512G= (p.Gly171=) n.478G= c.404G= (p.Gly135=) n.307G= | |
| 19 | g.55154100C>G | CA407440373 | TNNI3 | c.479G>C (p.Gly160Ala) c.512G>C (p.Gly171Ala) n.478G>C c.404G>C (p.Gly135Ala) n.307G>C | |
| 19 | g.55154100C>T | CA407440375 | TNNI3 | c.479G>A (p.Gly160Glu) c.512G>A (p.Gly171Glu) n.478G>A c.404G>A (p.Gly135Glu) n.307G>A | ClinVar dbSNP |
| 19 | g.55154101C>A | CA407440377 | TNNI3 | c.478G>T (p.Gly160Trp) c.511G>T (p.Gly171Trp) n.477G>T c.403G>T (p.Gly135Trp) n.306G>T | |
| 19 | g.55154101C>G | CA407440379 | TNNI3 | c.478G>C (p.Gly160Arg) c.511G>C (p.Gly171Arg) n.477G>C c.403G>C (p.Gly135Arg) n.306G>C | |
| 19 | g.55154101C>T | CA407440380 | TNNI3 | c.478G>A (p.Gly160Arg) c.511G>A (p.Gly171Arg) n.477G>A c.403G>A (p.Gly135Arg) n.306G>A | |
| 19 | g.55154102C>A | CA508989413 | TNNI3 | c.477G>T (p.Leu159=) c.510G>T (p.Leu170=) n.476G>T c.402G>T (p.Leu134=) n.305G>T | gnomAD v4 |
| 19 | g.55154102C= | CA2343273757 | TNNI3 | c.477G= (p.Leu159=) c.510G= (p.Leu170=) n.476G= c.402G= (p.Leu134=) n.305G= | |
| 19 | g.55154102C>G | CA051654 | TNNI3 | c.477G>C (p.Leu159=) c.510G>C (p.Leu170=) n.476G>C c.402G>C (p.Leu134=) n.305G>C | dbSNP ExAC gnomAD v4 |
| 19 | g.55154102C>T | CA508989414 | TNNI3 | c.477G>A (p.Leu159=) c.510G>A (p.Leu170=) n.476G>A c.402G>A (p.Leu134=) n.305G>A | |
| 19 | g.55154103A>C | CA407440383 | TNNI3 | c.476T>G (p.Leu159Arg) c.509T>G (p.Leu170Arg) n.475T>G c.401T>G (p.Leu134Arg) n.304T>G | |
| 19 | g.55154103A>G | CA407440385 | TNNI3 | c.476T>C (p.Leu159Pro) c.509T>C (p.Leu170Pro) n.475T>C c.401T>C (p.Leu134Pro) n.304T>C | |
| 19 | g.55154103A>T | CA407440386 | TNNI3 | c.476T>A (p.Leu159Gln) c.509T>A (p.Leu170Gln) n.475T>A c.401T>A (p.Leu134Gln) n.304T>A | |
| 19 | g.55154104G>A | CA508989415 | TNNI3 | c.475C>T (p.Leu159=) c.508C>T (p.Leu170=) n.474C>T c.400C>T (p.Leu134=) n.303C>T | |
| 19 | g.55154104G>C | CA407440388 | TNNI3 | c.475C>G (p.Leu159Val) c.508C>G (p.Leu170Val) n.474C>G c.400C>G (p.Leu134Val) n.303C>G | |
| 19 | g.55154104G>T | CA407440389 | TNNI3 | c.475C>A (p.Leu159Met) c.508C>A (p.Leu170Met) n.474C>A c.400C>A (p.Leu134Met) n.303C>A | |
| 19 | g.55154105C>A | CA508989416 | TNNI3 | c.474G>T (p.Leu158=) c.507G>T (p.Leu169=) n.473G>T c.399G>T (p.Leu133=) n.302G>T | gnomAD v4 |
| 19 | g.55154105C= | CA2343273758 | TNNI3 | c.474G= (p.Leu158=) c.507G= (p.Leu169=) n.473G= c.399G= (p.Leu133=) n.302G= | |
| 19 | g.55154105C>G | CA051651 | TNNI3 | c.474G>C (p.Leu158=) c.507G>C (p.Leu169=) n.473G>C c.399G>C (p.Leu133=) n.302G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154105C>T | CA508989417 | TNNI3 | c.474G>A (p.Leu158=) c.507G>A (p.Leu169=) n.473G>A c.399G>A (p.Leu133=) n.302G>A | dbSNP |
| 19 | g.55154106A>C | CA407440393 | TNNI3 | c.473T>G (p.Leu158Arg) c.506T>G (p.Leu169Arg) n.472T>G c.398T>G (p.Leu133Arg) n.301T>G | |
| 19 | g.55154106A>G | CA407440392 | TNNI3 | c.473T>C (p.Leu158Pro) c.506T>C (p.Leu169Pro) n.472T>C c.398T>C (p.Leu133Pro) n.301T>C | |
| 19 | g.55154106A>T | CA407440391 | TNNI3 | c.473T>A (p.Leu158Gln) c.506T>A (p.Leu169Gln) n.472T>A c.398T>A (p.Leu133Gln) n.301T>A | |
| 19 | g.55154107G>A | CA508989418 | TNNI3 | c.472C>T (p.Leu158=) c.505C>T (p.Leu169=) n.471C>T c.397C>T (p.Leu133=) n.300C>T | |
| 19 | g.55154107G>C | CA407440395 | TNNI3 | c.472C>G (p.Leu158Val) c.505C>G (p.Leu169Val) n.471C>G c.397C>G (p.Leu133Val) n.300C>G | gnomAD v4 |
| 19 | g.55154107G>T | CA407440397 | TNNI3 | c.472C>A (p.Leu158Met) c.505C>A (p.Leu169Met) n.471C>A c.397C>A (p.Leu133Met) n.300C>A | |
| 19 | g.55154108C>A | CA508989419 | TNNI3 | c.471G>T (p.Ala157=) c.504G>T (p.Ala168=) n.470G>T c.396G>T (p.Ala132=) n.299G>T | |
| 19 | g.55154108C= | CA2343273759 | TNNI3 | c.471G= (p.Ala157=) c.504G= (p.Ala168=) n.470G= c.396G= (p.Ala132=) n.299G= | |
| 19 | g.55154108C>G | CA508989420 | TNNI3 | c.471G>C (p.Ala157=) c.504G>C (p.Ala168=) n.470G>C c.396G>C (p.Ala132=) n.299G>C | |
| 19 | g.55154108C>T | CA021727 | TNNI3 | c.471G>A (p.Ala157=) c.504G>A (p.Ala168=) n.470G>A c.396G>A (p.Ala132=) n.299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154109G>A | CA021720 | TNNI3 | c.470C>T (p.Ala157Val) c.503C>T (p.Ala168Val) n.469C>T c.395C>T (p.Ala132Val) n.298C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.55154109G>C | CA407440399 | TNNI3 | c.470C>G (p.Ala157Gly) c.503C>G (p.Ala168Gly) n.469C>G c.395C>G (p.Ala132Gly) n.298C>G | |
| 19 | g.55154109G= | CA2343273760 | TNNI3 | c.470C= (p.Ala157=) c.503C= (p.Ala168=) n.469C= c.395C= (p.Ala132=) n.298C= | |
| 19 | g.55154109G>T | CA407440401 | TNNI3 | c.470C>A (p.Ala157Glu) c.503C>A (p.Ala168Glu) n.469C>A c.395C>A (p.Ala132Glu) n.298C>A | |
| 19 | g.55154110C>A | CA407440403 | TNNI3 | c.469G>T (p.Ala157Ser) c.502G>T (p.Ala168Ser) n.468G>T n.477G>T c.394G>T (p.Ala132Ser) n.297G>T | |
| 19 | g.55154110C>G | CA407440404 | TNNI3 | c.469G>C (p.Ala157Pro) c.502G>C (p.Ala168Pro) n.468G>C n.477G>C c.394G>C (p.Ala132Pro) n.297G>C | |
| 19 | g.55154110C>T | CA407440406 | TNNI3 | c.469G>A (p.Ala157Thr) c.502G>A (p.Ala168Thr) n.468G>A n.477G>A c.394G>A (p.Ala132Thr) n.297G>A | |
| 19 | g.55154111C>A | CA407440408 | TNNI3 | c.468G>T (p.Gln156His) c.501G>T (p.Gln167His) n.467G>T n.476G>T c.393G>T (p.Gln131His) n.296G>T | COSMIC |
| 19 | g.55154111C>G | CA407440409 | TNNI3 | c.468G>C (p.Gln156His) c.501G>C (p.Gln167His) n.467G>C n.476G>C c.393G>C (p.Gln131His) n.296G>C | |
| 19 | g.55154111C>T | CA508989421 | TNNI3 | c.468G>A (p.Gln156=) c.501G>A (p.Gln167=) n.467G>A n.476G>A c.393G>A (p.Gln131=) n.296G>A | |
| 19 | g.55154112T>A | CA407440411 | TNNI3 | c.467A>T (p.Gln156Leu) c.500A>T (p.Gln167Leu) n.466A>T n.475A>T c.392A>T (p.Gln131Leu) n.295A>T | |
| 19 | g.55154112T>C | CA407440412 | TNNI3 | c.467A>G (p.Gln156Arg) c.500A>G (p.Gln167Arg) n.466A>G n.475A>G c.392A>G (p.Gln131Arg) n.295A>G | |
| 19 | g.55154112T>G | CA407440414 | TNNI3 | c.467A>C (p.Gln156Pro) c.500A>C (p.Gln167Pro) n.466A>C n.475A>C c.392A>C (p.Gln131Pro) n.295A>C | |
| 19 | g.55154113G>A | CA407440417 | TNNI3 | c.466C>T (p.Gln156Ter) c.499C>T (p.Gln167Ter) n.465C>T n.474C>T c.391C>T (p.Gln131Ter) n.294C>T | dbSNP |
| 19 | g.55154113G>C | CA407440419 | TNNI3 | c.466C>G (p.Gln156Glu) c.499C>G (p.Gln167Glu) n.465C>G n.474C>G c.391C>G (p.Gln131Glu) n.294C>G | ClinVar dbSNP |
| 19 | g.55154113G= | CA2343273761 | TNNI3 | c.466C= (p.Gln156=) c.499C= (p.Gln167=) n.465C= n.474C= c.391C= (p.Gln131=) n.294C= | |
| 19 | g.55154113G>T | CA407440416 | TNNI3 | c.466C>A (p.Gln156Lys) c.499C>A (p.Gln167Lys) n.465C>A n.474C>A c.391C>A (p.Gln131Lys) n.294C>A | |
| 19 | g.55154114C>A | CA407440421 | TNNI3 | c.465G>T (p.Met155Ile) c.498G>T (p.Met166Ile) n.464G>T n.473G>T c.390G>T (p.Met130Ile) n.293G>T | |
| 19 | g.55154114C>G | CA407440422 | TNNI3 | c.465G>C (p.Met155Ile) c.498G>C (p.Met166Ile) n.464G>C n.473G>C c.390G>C (p.Met130Ile) n.293G>C | |
| 19 | g.55154114C>T | CA407440424 | TNNI3 | c.465G>A (p.Met155Ile) c.498G>A (p.Met166Ile) n.464G>A n.473G>A c.390G>A (p.Met130Ile) n.293G>A | gnomAD v4 |
| 19 | g.55154115A= | CA2343273762 | TNNI3 | c.464T= (p.Met155=) c.497T= (p.Met166=) n.463T= n.472T= c.389T= (p.Met130=) n.292T= | |
| 19 | g.55154115A>C | CA407440425 | TNNI3 | c.464T>G (p.Met155Arg) c.497T>G (p.Met166Arg) n.463T>G n.472T>G c.389T>G (p.Met130Arg) n.292T>G | |
| 19 | g.55154115A>G | CA021714 | TNNI3 | c.464T>C (p.Met155Thr) c.497T>C (p.Met166Thr) n.463T>C n.472T>C c.389T>C (p.Met130Thr) n.292T>C | ClinVar dbSNP |
| 19 | g.55154115A>T | CA407440427 | TNNI3 | c.464T>A (p.Met155Lys) c.497T>A (p.Met166Lys) n.463T>A n.472T>A c.389T>A (p.Met130Lys) n.292T>A | |
| 19 | g.55154116T>A | CA407440428 | TNNI3 | c.463A>T (p.Met155Leu) c.496A>T (p.Met166Leu) n.462A>T n.471A>T c.388A>T (p.Met130Leu) n.291A>T | |
| 19 | g.55154116T>C | CA021709 | TNNI3 | c.463A>G (p.Met155Val) c.496A>G (p.Met166Val) n.462A>G n.471A>G c.388A>G (p.Met130Val) n.291A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55154116T>G | CA407440430 | TNNI3 | c.463A>C (p.Met155Leu) c.496A>C (p.Met166Leu) n.462A>C n.471A>C c.388A>C (p.Met130Leu) n.291A>C | |
| 19 | g.55154116T= | CA2343273763 | TNNI3 | c.463A= (p.Met155=) c.496A= (p.Met166=) n.462A= n.471A= c.388A= (p.Met130=) n.291A= | |
| 19 | g.55154117C>A | CA407440432 | TNNI3 | c.462G>T (p.Met154Ile) c.495G>T (p.Met165Ile) n.461G>T n.470G>T c.387G>T (p.Met129Ile) n.290G>T | |
| 19 | g.55154117C= | CA2343273764 | TNNI3 | c.462G= (p.Met154=) c.495G= (p.Met165=) n.461G= n.470G= c.387G= (p.Met129=) n.290G= | |
| 19 | g.55154117C>G | CA407440433 | TNNI3 | c.462G>C (p.Met154Ile) c.495G>C (p.Met165Ile) n.461G>C n.470G>C c.387G>C (p.Met129Ile) n.290G>C | |
| 19 | g.55154117C>T | CA021703 | TNNI3 | c.462G>A (p.Met154Ile) c.495G>A (p.Met165Ile) n.461G>A n.470G>A c.387G>A (p.Met129Ile) n.290G>A | ClinVar dbSNP |
| 19 | g.55154118A>C | CA407440439 | TNNI3 | c.461T>G (p.Met154Arg) c.494T>G (p.Met165Arg) n.460T>G n.469T>G c.386T>G (p.Met129Arg) n.289T>G | |
| 19 | g.55154118A>G | CA407440436 | TNNI3 | c.461T>C (p.Met154Thr) c.494T>C (p.Met165Thr) n.460T>C n.469T>C c.386T>C (p.Met129Thr) n.289T>C | |
| 19 | g.55154118A>T | CA407440437 | TNNI3 | c.461T>A (p.Met154Lys) c.494T>A (p.Met165Lys) n.460T>A n.469T>A c.386T>A (p.Met129Lys) n.289T>A | |
| 19 | g.55154119T>A | CA407440440 | TNNI3 | c.460A>T (p.Met154Leu) c.493A>T (p.Met165Leu) n.459A>T n.468A>T c.385A>T (p.Met129Leu) n.288A>T | |
| 19 | g.55154119T>C | CA407440442 | TNNI3 | c.460A>G (p.Met154Val) c.493A>G (p.Met165Val) n.459A>G n.468A>G c.385A>G (p.Met129Val) n.288A>G | |
| 19 | g.55154119T>G | CA407440444 | TNNI3 | c.460A>C (p.Met154Leu) c.493A>C (p.Met165Leu) n.459A>C n.468A>C c.385A>C (p.Met129Leu) n.288A>C | |
| 19 | g.55154119_55154120insCGGCACACCGGCGGTACCGGCGGGCTCACCATCATCGGAGGAACGCTGAATATCGCGGTCAGCACCAATAATGAACGCCGAACACACGTGGCG | CA2814881312 | TNNI3 | c.459_460insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala153_Met154insArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala164_Met165insArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG n.467_468insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG c.384_385insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala128_Met129insArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insCGCCACGTGTGTTCGGCGTTCATTATTGGTGCTGACCGCGATATTCAGCGTTCCTCCGATGATGGTGAGCCCGCCGGTACCGCCGGTGTGCCG | |
| 19 | g.55154119_55154120insCGGCACACCGGCGGTACCGGCGGGCTCACCGTCATCGGAGGAACGCTGAATATCGCGGTCGGCACCAATAATGAATGCCGAACACACGTGGCGGGCGTCGTGGTAGGTCTTGCGCACCGACTCAATGTA | CA2540410352 | TNNI3 | c.459_460insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala153_Met154insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala164_Met165insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG n.467_468insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG c.384_385insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala128_Met129insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGTTCGGCATTCATTATTGGTGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTGCCG | |
| 19 | g.55154119_55154120insCGGTACACCGGCGGTACCGGCGGGCTCACCGTCATCGGAGGAACGCTGAATATCGCGGTCGGCGCCAATAATGAACGCCGAGCACACGTGGCGGGCGTCGTGGTAGGTCTTGCGCACCGACTCAATGTA | CA2507690890 | TNNI3 | c.459_460insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG (p.Ala153_Met154insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG (p.Ala164_Met165insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG n.467_468insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG c.384_385insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG (p.Ala128_Met129insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheIleIleGlyAlaAspArgAspIleGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCATTATTGGCGCCGACCGCGATATTCAGCGTTCCTCCGATGACGGTGAGCCCGCCGGTACCGCCGGTGTACCG | |
| 19 | g.55154119_55154120insCGGCACACCGGCGGTACCGGCGGGCTCGCCGTCATCCGAGGAACGCTGCACGTCGCGGTCGGCACCAATCACGAACGCCGAGCACACGTGGCGGGCGTCGTGGTAGGTCTTGCGCACCGACTCAATGTA | CA2539885688 | TNNI3 | c.459_460insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala153_Met154insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheValIleGlyAlaAspArgAspValGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) c.492_493insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala164_Met165insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheValIleGlyAlaAspArgAspValGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.458_459insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG n.467_468insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG c.384_385insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG (p.Ala128_Met129insTyrIleGluSerValArgLysThrTyrHisAspAlaArgHisValCysSerAlaPheValIleGlyAlaAspArgAspValGlnArgSerSerAspAspGlyGluProAlaGlyThrAlaGlyValPro) n.287_288insTACATTGAGTCGGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGGATGACGGCGAGCCCGCCGGTACCGCCGGTGTGCCG | |
| 19 | g.55154120G>A | CA508989422 | TNNI3 | c.459C>T (p.Ala153=) c.492C>T (p.Ala164=) n.458C>T n.467C>T c.384C>T (p.Ala128=) n.287C>T | |
| 19 | g.55154120G>C | CA508989423 | TNNI3 | c.459C>G (p.Ala153=) c.492C>G (p.Ala164=) n.458C>G n.467C>G c.384C>G (p.Ala128=) n.287C>G | |
| 19 | g.55154120G>T | CA508989424 | TNNI3 | c.459C>A (p.Ala153=) c.492C>A (p.Ala164=) n.458C>A n.467C>A c.384C>A (p.Ala128=) n.287C>A | gnomAD v4 |
| 19 | g.55154121G>A | CA407440446 | TNNI3 | c.458C>T (p.Ala153Val) c.491C>T (p.Ala164Val) n.457C>T n.466C>T c.383C>T (p.Ala128Val) n.286C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154121G>C | CA407440447 | TNNI3 | c.458C>G (p.Ala153Gly) c.491C>G (p.Ala164Gly) n.457C>G n.466C>G c.383C>G (p.Ala128Gly) n.286C>G | |
| 19 | g.55154121G= | CA2343273765 | TNNI3 | c.458C= (p.Ala153=) c.491C= (p.Ala164=) n.457C= n.466C= c.383C= (p.Ala128=) n.286C= | |
| 19 | g.55154121G>T | CA021698 | TNNI3 | c.458C>A (p.Ala153Asp) c.491C>A (p.Ala164Asp) n.457C>A n.466C>A c.383C>A (p.Ala128Asp) n.286C>A | ClinVar dbSNP |
| 19 | g.55154121_55154122insGCACACCCGCGGTACCGGCGGGCTCGCCGT | CA2814881314 | TNNI3 | c.457_458insACGGCGAGCCCGCCGGTACCGCGGGTGTGC (p.Ala153delinsAspGlyGluProAlaGlyThrAlaGlyValPro) c.490_491insACGGCGAGCCCGCCGGTACCGCGGGTGTGC (p.Ala164delinsAspGlyGluProAlaGlyThrAlaGlyValPro) n.456_457insACGGCGAGCCCGCCGGTACCGCGGGTGTGC n.465_466insACGGCGAGCCCGCCGGTACCGCGGGTGTGC c.382_383insACGGCGAGCCCGCCGGTACCGCGGGTGTGC (p.Ala128delinsAspGlyGluProAlaGlyThrAlaGlyValPro) n.285_286insACGGCGAGCCCGCCGGTACCGCGGGTGTGC | |
| 19 | g.55154122C>A | CA407440449 | TNNI3 | c.457G>T (p.Ala153Ser) c.490G>T (p.Ala164Ser) n.456G>T n.465G>T c.382G>T (p.Ala128Ser) n.285G>T | |
| 19 | g.55154122C>G | CA407440451 | TNNI3 | c.457G>C (p.Ala153Pro) c.490G>C (p.Ala164Pro) n.456G>C n.465G>C c.382G>C (p.Ala128Pro) n.285G>C | |
| 19 | g.55154122C>T | CA407440452 | TNNI3 | c.457G>A (p.Ala153Thr) c.490G>A (p.Ala164Thr) n.456G>A n.465G>A c.382G>A (p.Ala128Thr) n.285G>A | |
| 19 | g.55154123A= | CA2343273766 | TNNI3 | c.456T= (p.Asp152=) c.489T= (p.Asp163=) n.455T= n.464T= c.381T= (p.Asp127=) n.284T= | |
| 19 | g.55154123A>C | CA407440454 | TNNI3 | c.456T>G (p.Asp152Glu) c.489T>G (p.Asp163Glu) n.455T>G n.464T>G c.381T>G (p.Asp127Glu) n.284T>G | |
| 19 | g.55154123A>G | CA508989425 | TNNI3 | c.456T>C (p.Asp152=) c.489T>C (p.Asp163=) n.455T>C n.464T>C c.381T>C (p.Asp127=) n.284T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154123A>T | CA407440455 | TNNI3 | c.456T>A (p.Asp152Glu) c.489T>A (p.Asp163Glu) n.455T>A n.464T>A c.381T>A (p.Asp127Glu) n.284T>A | |
| 19 | g.55154124T>A | CA407440457 | TNNI3 | c.455A>T (p.Asp152Val) c.488A>T (p.Asp163Val) n.454A>T n.463A>T c.380A>T (p.Asp127Val) n.283A>T | |
| 19 | g.55154124T>C | CA407440460 | TNNI3 | c.455A>G (p.Asp152Gly) c.488A>G (p.Asp163Gly) n.454A>G n.463A>G c.380A>G (p.Asp127Gly) n.283A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154124T>G | CA407440458 | TNNI3 | c.455A>C (p.Asp152Ala) c.488A>C (p.Asp163Ala) n.454A>C n.463A>C c.380A>C (p.Asp127Ala) n.283A>C | |
| 19 | g.55154124T= | CA2343273767 | TNNI3 | c.455A= (p.Asp152=) c.488A= (p.Asp163=) n.454A= n.463A= c.380A= (p.Asp127=) n.283A= | |
| 19 | g.55154125C>A | CA407440462 | TNNI3 | c.454G>T (p.Asp152Tyr) c.487G>T (p.Asp163Tyr) n.453G>T n.462G>T c.379G>T (p.Asp127Tyr) n.282G>T | |
| 19 | g.55154125C>G | CA407440465 | TNNI3 | c.454G>C (p.Asp152His) c.487G>C (p.Asp163His) n.453G>C n.462G>C c.379G>C (p.Asp127His) n.282G>C | |
| 19 | g.55154125C>T | CA407440464 | TNNI3 | c.454G>A (p.Asp152Asn) c.487G>A (p.Asp163Asn) n.453G>A n.462G>A c.379G>A (p.Asp127Asn) n.282G>A | gnomAD v4 |
| 19 | g.55154125_55154126insCGAGGAACGCTGCACGTCGCGGTCGGCACCAATCACGAACGCCGAGCACACGTGGCGGGCGTCGTGGTAGGTCTTGCGCACC | CA2814881315 | TNNI3 | c.454_455insGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGG (p.Asp152GlyfsTer40) c.487_488insGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGG (p.Asp163GlyfsTer40) n.453_454insGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGG n.462_463insGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGG c.379_380insGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGG (p.Asp127GlyfsTer40) n.282_283insGTGCGCAAGACCTACCACGACGCCCGCCACGTGTGCTCGGCGTTCGTGATTGGTGCCGACCGCGACGTGCAGCGTTCCTCGG | |
| 19 | g.55154126T>A | CA508989426 | TNNI3 | c.453A>T (p.Ala151=) c.486A>T (p.Ala162=) n.452A>T n.461A>T c.378A>T (p.Ala126=) n.281A>T | |
| 19 | g.55154126T>C | CA508989427 | TNNI3 | c.453A>G (p.Ala151=) c.486A>G (p.Ala162=) n.452A>G n.461A>G c.378A>G (p.Ala126=) n.281A>G | |
| 19 | g.55154126T>G | CA508989428 | TNNI3 | c.453A>C (p.Ala151=) c.486A>C (p.Ala162=) n.452A>C n.461A>C c.378A>C (p.Ala126=) n.281A>C | |
| 19 | g.55154127G>A | CA407440467 | TNNI3 | c.452C>T (p.Ala151Val) c.485C>T (p.Ala162Val) n.451C>T n.460C>T c.377C>T (p.Ala126Val) n.280C>T | gnomAD v4 |
| 19 | g.55154127G>C | CA407440469 | TNNI3 | c.452C>G (p.Ala151Gly) c.485C>G (p.Ala162Gly) n.451C>G n.460C>G c.377C>G (p.Ala126Gly) n.280C>G | |
| 19 | g.55154127G>T | CA407440470 | TNNI3 | c.452C>A (p.Ala151Glu) c.485C>A (p.Ala162Glu) n.451C>A n.460C>A c.377C>A (p.Ala126Glu) n.280C>A | gnomAD v4 |
| 19 | g.55154128C>A | CA407440472 | TNNI3 | c.451G>T (p.Ala151Ser) c.484G>T (p.Ala162Ser) n.450G>T n.459G>T c.376G>T (p.Ala126Ser) n.279G>T | |
| 19 | g.55154128C= | CA2343273768 | TNNI3 | c.451G= (p.Ala151=) c.484G= (p.Ala162=) n.450G= n.459G= c.376G= (p.Ala126=) n.279G= | |
| 19 | g.55154128C>G | CA407440473 | TNNI3 | c.451G>C (p.Ala151Pro) c.484G>C (p.Ala162Pro) n.450G>C n.459G>C c.376G>C (p.Ala126Pro) n.279G>C | |
| 19 | g.55154128C>T | CA021690 | TNNI3 | c.451G>A (p.Ala151Thr) c.484G>A (p.Ala162Thr) n.450G>A n.459G>A c.376G>A (p.Ala126Thr) n.279G>A | ClinVar dbSNP |
| 19 | g.55154129A= | CA2343273769 | TNNI3 | c.450T= (p.Ser150=) c.483T= (p.Ser161=) n.449T= n.458T= c.375T= (p.Ser125=) n.278T= | |
| 19 | g.55154129A>C | CA508989429 | TNNI3 | c.450T>G (p.Ser150=) c.483T>G (p.Ser161=) n.449T>G n.458T>G c.375T>G (p.Ser125=) n.278T>G | dbSNP |
| 19 | g.55154129A>G | CA508989430 | TNNI3 | c.450T>C (p.Ser150=) c.483T>C (p.Ser161=) n.449T>C n.458T>C c.375T>C (p.Ser125=) n.278T>C | gnomAD v4 |
| 19 | g.55154129A>T | CA508989431 | TNNI3 | c.450T>A (p.Ser150=) c.483T>A (p.Ser161=) n.449T>A n.458T>A c.375T>A (p.Ser125=) n.278T>A | dbSNP |
| 19 | g.55154130G>A | CA407440476 | TNNI3 | c.449C>T (p.Ser150Phe) c.482C>T (p.Ser161Phe) n.448C>T n.457C>T c.374C>T (p.Ser125Phe) n.277C>T | gnomAD v4 |
| 19 | g.55154130G>C | CA407440477 | TNNI3 | c.449C>G (p.Ser150Cys) c.482C>G (p.Ser161Cys) n.448C>G n.457C>G c.374C>G (p.Ser125Cys) n.277C>G | |
| 19 | g.55154130G>T | CA407440478 | TNNI3 | c.449C>A (p.Ser150Tyr) c.482C>A (p.Ser161Tyr) n.448C>A n.457C>A c.374C>A (p.Ser125Tyr) n.277C>A | ClinVar |
| 19 | g.55154131A>C | CA407440480 | TNNI3 | c.448T>G (p.Ser150Ala) c.481T>G (p.Ser161Ala) n.447T>G n.456T>G c.373T>G (p.Ser125Ala) n.276T>G | |
| 19 | g.55154131A>G | CA407440482 | TNNI3 | c.448T>C (p.Ser150Pro) c.481T>C (p.Ser161Pro) n.447T>C n.456T>C c.373T>C (p.Ser125Pro) n.276T>C | |
| 19 | g.55154131A>T | CA407440483 | TNNI3 | c.448T>A (p.Ser150Thr) c.481T>A (p.Ser161Thr) n.447T>A n.456T>A c.373T>A (p.Ser125Thr) n.276T>A | |
| 19 | g.55154132G>A | CA508989432 | TNNI3 | c.447C>T (p.Ile149=) c.480C>T (p.Ile160=) n.446C>T n.455C>T c.372C>T (p.Ile124=) n.275C>T | ClinVar dbSNP |
| 19 | g.55154132G>C | CA407440485 | TNNI3 | c.447C>G (p.Ile149Met) c.480C>G (p.Ile160Met) n.446C>G n.455C>G c.372C>G (p.Ile124Met) n.275C>G | |
| 19 | g.55154132G>T | CA508989433 | TNNI3 | c.447C>A (p.Ile149=) c.480C>A (p.Ile160=) n.446C>A n.455C>A c.372C>A (p.Ile124=) n.275C>A | COSMIC |