| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.55154176G>A | CA407440686 | TNNI3 | c.403C>T (p.Leu135Phe) c.436C>T (p.Leu146Phe) n.402C>T n.411C>T c.328C>T (p.Leu110Phe) n.231C>T | ClinVar dbSNP |
| 19 | g.55154176G>C | CA407440687 | TNNI3 | c.403C>G (p.Leu135Val) c.436C>G (p.Leu146Val) n.402C>G n.411C>G c.328C>G (p.Leu110Val) n.231C>G | |
| 19 | g.55154176G= | CA2343273795 | TNNI3 | c.403C= (p.Leu135=) c.436C= (p.Leu146=) n.402C= n.411C= c.328C= (p.Leu110=) n.231C= | |
| 19 | g.55154176G>T | CA407440688 | TNNI3 | c.403C>A (p.Leu135Ile) c.436C>A (p.Leu146Ile) n.402C>A n.411C>A c.328C>A (p.Leu110Ile) n.231C>A | ClinVar |
| 19 | g.55154177G>A | CA508989468 | TNNI3 | c.402C>T (p.Asp134=) c.435C>T (p.Asp145=) n.401C>T n.410C>T c.327C>T (p.Asp109=) n.230C>T | ClinVar dbSNP |
| 19 | g.55154177G>C | CA407440691 | TNNI3 | c.402C>G (p.Asp134Glu) c.435C>G (p.Asp145Glu) n.401C>G n.410C>G c.327C>G (p.Asp109Glu) n.230C>G | |
| 19 | g.55154177G= | CA2343273796 | TNNI3 | c.402C= (p.Asp134=) c.435C= (p.Asp145=) n.401C= n.410C= c.327C= (p.Asp109=) n.230C= | |
| 19 | g.55154177G>T | CA407440693 | TNNI3 | c.402C>A (p.Asp134Glu) c.435C>A (p.Asp145Glu) n.401C>A n.410C>A c.327C>A (p.Asp109Glu) n.230C>A | gnomAD v4 |
| 19 | g.55154178T>A | CA407440696 | TNNI3 | c.401A>T (p.Asp134Val) c.434A>T (p.Asp145Val) n.400A>T n.409A>T c.326A>T (p.Asp109Val) n.229A>T | |
| 19 | g.55154178T>C | CA021608 | TNNI3 | c.401A>G (p.Asp134Gly) c.434A>G (p.Asp145Gly) n.400A>G n.409A>G c.326A>G (p.Asp109Gly) n.229A>G | ClinVar dbSNP |
| 19 | g.55154178T>G | CA407440699 | TNNI3 | c.401A>C (p.Asp134Ala) c.434A>C (p.Asp145Ala) n.400A>C n.409A>C c.326A>C (p.Asp109Ala) n.229A>C | |
| 19 | g.55154178T= | CA2343273797 | TNNI3 | c.401A= (p.Asp134=) c.434A= (p.Asp145=) n.400A= n.409A= c.326A= (p.Asp109=) n.229A= | |
| 19 | g.55154179C>A | CA407440703 | TNNI3 | c.400G>T (p.Asp134Tyr) c.433G>T (p.Asp145Tyr) n.399G>T n.408G>T c.325G>T (p.Asp109Tyr) n.228G>T | |
| 19 | g.55154179C>G | CA407440704 | TNNI3 | c.400G>C (p.Asp134His) c.433G>C (p.Asp145His) n.399G>C n.408G>C c.325G>C (p.Asp109His) n.228G>C | |
| 19 | g.55154179C>T | CA407440701 | TNNI3 | c.400G>A (p.Asp134Asn) c.433G>A (p.Asp145Asn) n.399G>A n.408G>A c.325G>A (p.Asp109Asn) n.228G>A | |
| 19 | g.55154180A>C | CA407440707 | TNNI3 | c.399T>G (p.Phe133Leu) c.432T>G (p.Phe144Leu) n.398T>G n.407T>G c.324T>G (p.Phe108Leu) n.227T>G | |
| 19 | g.55154180A>G | CA508989469 | TNNI3 | c.399T>C (p.Phe133=) c.432T>C (p.Phe144=) n.398T>C n.407T>C c.324T>C (p.Phe108=) n.227T>C | |
| 19 | g.55154180A>T | CA407440705 | TNNI3 | c.399T>A (p.Phe133Leu) c.432T>A (p.Phe144Leu) n.398T>A n.407T>A c.324T>A (p.Phe108Leu) n.227T>A | |
| 19 | g.55154181A= | CA2343273798 | TNNI3 | c.398T= (p.Phe133=) c.431T= (p.Phe144=) n.397T= n.406T= c.323T= (p.Phe108=) n.226T= | |
| 19 | g.55154181A>C | CA407440710 | TNNI3 | c.398T>G (p.Phe133Cys) c.431T>G (p.Phe144Cys) n.397T>G n.406T>G c.323T>G (p.Phe108Cys) n.226T>G | |
| 19 | g.55154181A>G | CA407440712 | TNNI3 | c.398T>C (p.Phe133Ser) c.431T>C (p.Phe144Ser) n.397T>C n.406T>C c.323T>C (p.Phe108Ser) n.226T>C | |
| 19 | g.55154181A>T | CA407440714 | TNNI3 | c.398T>A (p.Phe133Tyr) c.431T>A (p.Phe144Tyr) n.397T>A n.406T>A c.323T>A (p.Phe108Tyr) n.226T>A | dbSNP |
| 19 | g.55154182A>C | CA407440716 | TNNI3 | c.397T>G (p.Phe133Val) c.430T>G (p.Phe144Val) n.396T>G n.405T>G c.322T>G (p.Phe108Val) n.225T>G | |
| 19 | g.55154182A>G | CA407440719 | TNNI3 | c.397T>C (p.Phe133Leu) c.430T>C (p.Phe144Leu) n.396T>C n.405T>C c.322T>C (p.Phe108Leu) n.225T>C | ClinVar |
| 19 | g.55154182A>T | CA407440720 | TNNI3 | c.397T>A (p.Phe133Ile) c.430T>A (p.Phe144Ile) n.396T>A n.405T>A c.322T>A (p.Phe108Ile) n.225T>A | |
| 19 | g.55154183G>A | CA508989470 | TNNI3 | c.396C>T (p.Ile132=) c.429C>T (p.Ile143=) n.395C>T n.404C>T c.321C>T (p.Ile107=) n.224C>T | |
| 19 | g.55154183G>C | CA407440722 | TNNI3 | c.396C>G (p.Ile132Met) c.429C>G (p.Ile143Met) n.395C>G n.404C>G c.321C>G (p.Ile107Met) n.224C>G | |
| 19 | g.55154183G>T | CA508989471 | TNNI3 | c.396C>A (p.Ile132=) c.429C>A (p.Ile143=) n.395C>A n.404C>A c.321C>A (p.Ile107=) n.224C>A | gnomAD v4 COSMIC |
| 19 | g.55154184A>C | CA407440724 | TNNI3 | c.395T>G (p.Ile132Ser) c.428T>G (p.Ile143Ser) n.394T>G n.403T>G c.320T>G (p.Ile107Ser) n.223T>G | |
| 19 | g.55154184A>G | CA407440726 | TNNI3 | c.395T>C (p.Ile132Thr) c.428T>C (p.Ile143Thr) n.394T>C n.403T>C c.320T>C (p.Ile107Thr) n.223T>C | |
| 19 | g.55154184A>T | CA407440727 | TNNI3 | c.395T>A (p.Ile132Asn) c.428T>A (p.Ile143Asn) n.394T>A n.403T>A c.320T>A (p.Ile107Asn) n.223T>A | |
| 19 | g.55154184_55154187delinsATCT | CA2343273799 | TNNI3 | c.392_395delinsAGAT (p.Lys131=) c.425_428delinsAGAT (p.Lys142=) n.391_394delinsAGAT n.400_403delinsAGAT c.317_320delinsAGAT (p.Lys106=) n.220_223delinsAGAT | |
| 19 | g.55154185T>A | CA407440734 | TNNI3 | c.394A>T (p.Ile132Phe) c.427A>T (p.Ile143Phe) n.393A>T n.402A>T c.319A>T (p.Ile107Phe) n.222A>T | |
| 19 | g.55154185T>C | CA407440732 | TNNI3 | c.394A>G (p.Ile132Val) c.427A>G (p.Ile143Val) n.393A>G n.402A>G c.319A>G (p.Ile107Val) n.222A>G | |
| 19 | g.55154185T>G | CA407440729 | TNNI3 | c.394A>C (p.Ile132Leu) c.427A>C (p.Ile143Leu) n.393A>C n.402A>C c.319A>C (p.Ile107Leu) n.222A>C | |
| 19 | g.55154188_55154190del | CA883722514 | TNNI3 | c.392_394del (p.Lys131del) c.425_427del (p.Lys142del) n.391_393del n.400_402del c.317_319del (p.Lys106del) n.220_222del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55154186C>A | CA407440737 | TNNI3 | c.393G>T (p.Lys131Asn) c.426G>T (p.Lys142Asn) n.392G>T n.401G>T c.318G>T (p.Lys106Asn) n.221G>T | |
| 19 | g.55154186C>G | CA407440738 | TNNI3 | c.393G>C (p.Lys131Asn) c.426G>C (p.Lys142Asn) n.392G>C n.401G>C c.318G>C (p.Lys106Asn) n.221G>C | |
| 19 | g.55154186C>T | CA508989472 | TNNI3 | c.393G>A (p.Lys131=) c.426G>A (p.Lys142=) n.392G>A n.401G>A c.318G>A (p.Lys106=) n.221G>A | ClinVar gnomAD v4 |
| 19 | g.55154187T>A | CA407440740 | TNNI3 | c.392A>T (p.Lys131Met) c.425A>T (p.Lys142Met) n.391A>T n.400A>T c.317A>T (p.Lys106Met) n.220A>T | |
| 19 | g.55154187T>C | CA407440741 | TNNI3 | c.392A>G (p.Lys131Arg) c.425A>G (p.Lys142Arg) n.391A>G n.400A>G c.317A>G (p.Lys106Arg) n.220A>G | |
| 19 | g.55154187T>G | CA407440743 | TNNI3 | c.392A>C (p.Lys131Thr) c.425A>C (p.Lys142Thr) n.391A>C n.400A>C c.317A>C (p.Lys106Thr) n.220A>C | |
| 19 | g.55154188T>A | CA407440747 | TNNI3 | c.391A>T (p.Lys131Ter) c.424A>T (p.Lys142Ter) n.390A>T n.399A>T c.316A>T (p.Lys106Ter) n.219A>T | |
| 19 | g.55154188T>C | CA407440748 | TNNI3 | c.391A>G (p.Lys131Glu) c.424A>G (p.Lys142Glu) n.390A>G n.399A>G c.316A>G (p.Lys106Glu) n.219A>G | ClinVar dbSNP |
| 19 | g.55154188T>G | CA407440750 | TNNI3 | c.391A>C (p.Lys131Gln) c.424A>C (p.Lys142Gln) n.390A>C n.399A>C c.316A>C (p.Lys106Gln) n.219A>C | |
| 19 | g.55154188T= | CA2343273800 | TNNI3 | c.391A= (p.Lys131=) c.424A= (p.Lys142=) n.390A= n.399A= c.316A= (p.Lys106=) n.219A= | |
| 19 | g.55154189C>A | CA407440752 | TNNI3 | c.390G>T (p.Gln130His) c.423G>T (p.Gln141His) n.389G>T n.398G>T c.315G>T (p.Gln105His) n.218G>T | |
| 19 | g.55154189C= | CA2343273801 | TNNI3 | c.390G= (p.Gln130=) c.423G= (p.Gln141=) n.389G= n.398G= c.315G= (p.Gln105=) n.218G= | |
| 19 | g.55154189C>G | CA407440754 | TNNI3 | c.390G>C (p.Gln130His) c.423G>C (p.Gln141His) n.389G>C n.398G>C c.315G>C (p.Gln105His) n.218G>C | |
| 19 | g.55154189C>T | CA508989473 | TNNI3 | c.390G>A (p.Gln130=) c.423G>A (p.Gln141=) n.389G>A n.398G>A c.315G>A (p.Gln105=) n.218G>A | dbSNP |