Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55151905C>A | CA021928 | TNNI3 | c.562G>T (p.Val188Leu) c.595G>T (p.Val199Leu) n.561G>T c.487G>T (p.Val163Leu) n.390G>T | ClinVar dbSNP gnomAD v4 |
19 | g.55151905C= | CA2343272654 | TNNI3 | c.562G= (p.Val188=) c.595G= (p.Val199=) n.561G= c.487G= (p.Val163=) n.390G= | |
19 | g.55151905C>G | CA407439663 | TNNI3 | c.562G>C (p.Val188Leu) c.595G>C (p.Val199Leu) n.561G>C c.487G>C (p.Val163Leu) n.390G>C | gnomAD v4 |
19 | g.55151905C>T | CA021922 | TNNI3 | c.562G>A (p.Val188Met) c.595G>A (p.Val199Met) n.561G>A c.487G>A (p.Val163Met) n.390G>A | ClinVar dbSNP gnomAD v4 |
19 | g.55151906C>A | CA051855 | TNNI3 | c.561G>T (p.Glu187Asp) c.594G>T (p.Glu198Asp) n.560G>T c.486G>T (p.Glu162Asp) n.389G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.55151906C= | CA2343272655 | TNNI3 | c.561G= (p.Glu187=) c.594G= (p.Glu198=) n.560G= c.486G= (p.Glu162=) n.389G= | |
19 | g.55151906C>G | CA407439665 | TNNI3 | c.561G>C (p.Glu187Asp) c.594G>C (p.Glu198Asp) n.560G>C c.486G>C (p.Glu162Asp) n.389G>C | gnomAD v4 |
19 | g.55151906C>T | CA508989357 | TNNI3 | c.561G>A (p.Glu187=) c.594G>A (p.Glu198=) n.560G>A c.486G>A (p.Glu162=) n.389G>A | |
19 | g.55151907T>A | CA407439666 | TNNI3 | c.560A>T (p.Glu187Val) c.593A>T (p.Glu198Val) n.559A>T c.485A>T (p.Glu162Val) n.388A>T | |
19 | g.55151907T>C | CA407439668 | TNNI3 | c.560A>G (p.Glu187Gly) c.593A>G (p.Glu198Gly) n.559A>G c.485A>G (p.Glu162Gly) n.388A>G | COSMIC |
19 | g.55151907T>G | CA407439669 | TNNI3 | c.560A>C (p.Glu187Ala) c.593A>C (p.Glu198Ala) n.559A>C c.485A>C (p.Glu162Ala) n.388A>C | |
19 | g.55151907_55151908delinsCT | CA2343272657 | TNNI3 | c.559_560delinsAG (p.Glu187Arg) c.592_593delinsAG (p.Glu198Arg) n.558_559delinsAG c.484_485delinsAG (p.Glu162Arg) n.387_388delinsAG | ClinVar dbSNP |
19 | g.55151907_55151908delinsTC | CA2343272656 | TNNI3 | c.559_560delinsGA (p.Glu187=) c.592_593delinsGA (p.Glu198=) n.558_559delinsGA c.484_485delinsGA (p.Glu162=) n.387_388delinsGA | |
19 | g.55151908C>A | CA407439670 | TNNI3 | c.559G>T (p.Glu187Ter) c.592G>T (p.Glu198Ter) n.558G>T c.484G>T (p.Glu162Ter) n.387G>T | |
19 | g.55151908C= | CA2343272658 | TNNI3 | c.559G= (p.Glu187=) c.592G= (p.Glu198=) n.558G= c.484G= (p.Glu162=) n.387G= | |
19 | g.55151908C>G | CA407439671 | TNNI3 | c.559G>C (p.Glu187Gln) c.592G>C (p.Glu198Gln) n.558G>C c.484G>C (p.Glu162Gln) n.387G>C | |
19 | g.55151908C>T | CA021916 | TNNI3 | c.559G>A (p.Glu187Lys) c.592G>A (p.Glu198Lys) n.558G>A c.484G>A (p.Glu162Lys) n.387G>A | ClinVar dbSNP |
19 | g.55151909C>A | CA508989358 | TNNI3 | c.558G>T (p.Arg186=) c.591G>T (p.Arg197=) n.557G>T c.483G>T (p.Arg161=) n.386G>T | |
19 | g.55151909C>G | CA508989359 | TNNI3 | c.558G>C (p.Arg186=) c.591G>C (p.Arg197=) n.557G>C c.483G>C (p.Arg161=) n.386G>C | |
19 | g.55151909C>T | CA508989360 | TNNI3 | c.558G>A (p.Arg186=) c.591G>A (p.Arg197=) n.557G>A c.483G>A (p.Arg161=) n.386G>A | COSMIC |
19 | g.55151910C>A | CA407439673 | TNNI3 | c.557G>T (p.Arg186Leu) c.590G>T (p.Arg197Leu) n.556G>T c.482G>T (p.Arg161Leu) n.385G>T | |
19 | g.55151910C= | CA2343272659 | TNNI3 | c.557G= (p.Arg186=) c.590G= (p.Arg197=) n.556G= c.482G= (p.Arg161=) n.385G= | |
19 | g.55151910C>G | CA407439675 | TNNI3 | c.557G>C (p.Arg186Pro) c.590G>C (p.Arg197Pro) n.556G>C c.482G>C (p.Arg161Pro) n.385G>C | |
19 | g.55151910C>T | CA021907 | TNNI3 | c.557G>A (p.Arg186Gln) c.590G>A (p.Arg197Gln) n.556G>A c.482G>A (p.Arg161Gln) n.385G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.55151911G>A | CA051839 | TNNI3 | c.556C>T (p.Arg186Trp) c.589C>T (p.Arg197Trp) n.555C>T c.481C>T (p.Arg161Trp) n.384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.55151911G>C | CA407439677 | TNNI3 | c.556C>G (p.Arg186Gly) c.589C>G (p.Arg197Gly) n.555C>G c.481C>G (p.Arg161Gly) n.384C>G | |
19 | g.55151911G= | CA2343272660 | TNNI3 | c.556C= (p.Arg186=) c.589C= (p.Arg197=) n.555C= c.481C= (p.Arg161=) n.384C= | |
19 | g.55151911G>T | CA508989361 | TNNI3 | c.556C>A (p.Arg186=) c.589C>A (p.Arg197=) n.555C>A c.481C>A (p.Arg161=) n.384C>A | gnomAD v4 |
19 | g.55151912G>A | CA508989362 | TNNI3 | c.555C>T (p.Asn185=) c.588C>T (p.Asn196=) n.554C>T c.480C>T (p.Asn160=) n.383C>T | |
19 | g.55151912G>C | CA021902 | TNNI3 | c.555C>G (p.Asn185Lys) c.588C>G (p.Asn196Lys) n.554C>G c.480C>G (p.Asn160Lys) n.383C>G | ClinVar dbSNP |
19 | g.55151912G= | CA2343272661 | TNNI3 | c.555C= (p.Asn185=) c.588C= (p.Asn196=) n.554C= c.480C= (p.Asn160=) n.383C= | |
19 | g.55151912G>T | CA407439680 | TNNI3 | c.555C>A (p.Asn185Lys) c.588C>A (p.Asn196Lys) n.554C>A c.480C>A (p.Asn160Lys) n.383C>A | |
19 | g.55151913T>A | CA407439681 | TNNI3 | c.554A>T (p.Asn185Ile) c.587A>T (p.Asn196Ile) n.553A>T c.479A>T (p.Asn160Ile) n.382A>T | |
19 | g.55151913T>C | CA021896 | TNNI3 | c.554A>G (p.Asn185Ser) c.587A>G (p.Asn196Ser) n.553A>G c.479A>G (p.Asn160Ser) n.382A>G | ClinVar dbSNP |
19 | g.55151913T>G | CA407439684 | TNNI3 | c.554A>C (p.Asn185Thr) c.587A>C (p.Asn196Thr) n.553A>C c.479A>C (p.Asn160Thr) n.382A>C | |
19 | g.55151913T= | CA2343272662 | TNNI3 | c.554A= (p.Asn185=) c.587A= (p.Asn196=) n.553A= c.479A= (p.Asn160=) n.382A= | |
19 | g.55151916del | CA2695229155 | TNNI3 | c.554del (p.Asn185ThrfsTer14) c.587del (p.Asn196ThrfsTer14) n.553del c.479del (p.Asn160ThrfsTer14) n.382del | |
19 | g.55151914T>A | CA021890 | TNNI3 | c.553A>T (p.Asn185Tyr) c.586A>T (p.Asn196Tyr) n.552A>T c.478A>T (p.Asn160Tyr) n.381A>T | ClinVar dbSNP |
19 | g.55151914T>C | CA407439686 | TNNI3 | c.553A>G (p.Asn185Asp) c.586A>G (p.Asn196Asp) n.552A>G c.478A>G (p.Asn160Asp) n.381A>G | |
19 | g.55151914T>G | CA407439687 | TNNI3 | c.553A>C (p.Asn185His) c.586A>C (p.Asn196His) n.552A>C c.478A>C (p.Asn160His) n.381A>C | |
19 | g.55151914T= | CA2343272663 | TNNI3 | c.553A= (p.Asn185=) c.586A= (p.Asn196=) n.552A= c.478A= (p.Asn160=) n.381A= | |
19 | g.55151915T>A | CA407439689 | TNNI3 | c.552A>T (p.Glu184Asp) c.585A>T (p.Glu195Asp) n.551A>T c.477A>T (p.Glu159Asp) n.380A>T | |
19 | g.55151915T>C | CA508989363 | TNNI3 | c.552A>G (p.Glu184=) c.585A>G (p.Glu195=) n.551A>G c.477A>G (p.Glu159=) n.380A>G | |
19 | g.55151915T>G | CA407439690 | TNNI3 | c.552A>C (p.Glu184Asp) c.585A>C (p.Glu195Asp) n.551A>C c.477A>C (p.Glu159Asp) n.380A>C | |
19 | g.55151916T>A | CA407439692 | TNNI3 | c.551A>T (p.Glu184Val) c.584A>T (p.Glu195Val) n.550A>T c.476A>T (p.Glu159Val) n.379A>T | |
19 | g.55151916T>C | CA407439694 | TNNI3 | c.551A>G (p.Glu184Gly) c.584A>G (p.Glu195Gly) n.550A>G c.476A>G (p.Glu159Gly) n.379A>G | |
19 | g.55151916T>G | CA407439695 | TNNI3 | c.551A>C (p.Glu184Ala) c.584A>C (p.Glu195Ala) n.550A>C c.476A>C (p.Glu159Ala) n.379A>C | |
19 | g.55151917C>A | CA407439697 | TNNI3 | c.550G>T (p.Glu184Ter) c.583G>T (p.Glu195Ter) n.549G>T c.475G>T (p.Glu159Ter) n.378G>T | |
19 | g.55151917C= | CA2343272664 | TNNI3 | c.550G= (p.Glu184=) c.583G= (p.Glu195=) n.549G= c.475G= (p.Glu159=) n.378G= | |
19 | g.55151917C>G | CA407439699 | TNNI3 | c.550G>C (p.Glu184Gln) c.583G>C (p.Glu195Gln) n.549G>C c.475G>C (p.Glu159Gln) n.378G>C | ClinVar dbSNP |