| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |