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