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