| 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.55154068C>A | CA407440300 | TNNI3 | c.511G>T (p.Ala171Ser) c.544G>T (p.Ala182Ser) n.510G>T c.436G>T (p.Ala146Ser) n.339G>T | |
| 19 | g.55154068C= | CA2343273733 | TNNI3 | c.511G= (p.Ala171=) c.544G= (p.Ala182=) n.510G= c.436G= (p.Ala146=) n.339G= | |
| 19 | g.55154068C>G | CA407440301 | TNNI3 | c.511G>C (p.Ala171Pro) c.544G>C (p.Ala182Pro) n.510G>C c.436G>C (p.Ala146Pro) n.339G>C | |
| 19 | g.55154068C>T | CA021791 | TNNI3 | c.511G>A (p.Ala171Thr) c.544G>A (p.Ala182Thr) n.510G>A c.436G>A (p.Ala146Thr) n.339G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154069C>A | CA508989382 | TNNI3 | c.510G>T (p.Arg170=) c.543G>T (p.Arg181=) n.509G>T c.435G>T (p.Arg145=) n.338G>T | |
| 19 | g.55154069C>G | CA508989383 | TNNI3 | c.510G>C (p.Arg170=) c.543G>C (p.Arg181=) n.509G>C c.435G>C (p.Arg145=) n.338G>C | |
| 19 | g.55154069C>T | CA508989384 | TNNI3 | c.510G>A (p.Arg170=) c.543G>A (p.Arg181=) n.509G>A c.435G>A (p.Arg145=) n.338G>A | |
| 19 | g.55154070C>A | CA407440302 | TNNI3 | c.509G>T (p.Arg170Leu) c.542G>T (p.Arg181Leu) n.508G>T c.434G>T (p.Arg145Leu) n.337G>T | |
| 19 | g.55154070C= | CA2343273734 | TNNI3 | c.509G= (p.Arg170=) c.542G= (p.Arg181=) n.508G= c.434G= (p.Arg145=) n.337G= | |
| 19 | g.55154070C>G | CA407440303 | TNNI3 | c.509G>C (p.Arg170Pro) c.542G>C (p.Arg181Pro) n.508G>C c.434G>C (p.Arg145Pro) n.337G>C | ClinVar |
| 19 | g.55154070C>T | CA021784 | TNNI3 | c.509G>A (p.Arg170Gln) c.542G>A (p.Arg181Gln) n.508G>A c.434G>A (p.Arg145Gln) n.337G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.55154071G>A | CA021778 | TNNI3 | c.508C>T (p.Arg170Trp) c.541C>T (p.Arg181Trp) n.507C>T c.433C>T (p.Arg145Trp) n.336C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154071G>C | CA021769 | TNNI3 | c.508C>G (p.Arg170Gly) c.541C>G (p.Arg181Gly) n.507C>G c.433C>G (p.Arg145Gly) n.336C>G | ClinVar dbSNP |
| 19 | g.55154071G= | CA2343273735 | TNNI3 | c.508C= (p.Arg170=) c.541C= (p.Arg181=) n.507C= c.433C= (p.Arg145=) n.336C= | |
| 19 | g.55154071G>T | CA508989385 | TNNI3 | c.508C>A (p.Arg170=) c.541C>A (p.Arg181=) n.507C>A c.433C>A (p.Arg145=) n.336C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55154072C>A | CA508989386 | TNNI3 | c.507G>T (p.Leu169=) c.540G>T (p.Leu180=) n.506G>T c.432G>T (p.Leu144=) n.335G>T | |
| 19 | g.55154072C= | CA2343273736 | TNNI3 | c.507G= (p.Leu169=) c.540G= (p.Leu180=) n.506G= c.432G= (p.Leu144=) n.335G= | |
| 19 | g.55154072C>G | CA508989387 | TNNI3 | c.507G>C (p.Leu169=) c.540G>C (p.Leu180=) n.506G>C c.432G>C (p.Leu144=) n.335G>C | |
| 19 | g.55154072C>T | CA508989388 | TNNI3 | c.507G>A (p.Leu169=) c.540G>A (p.Leu180=) n.506G>A c.432G>A (p.Leu144=) n.335G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55154073del | CA2695229158 | TNNI3 | c.506del (p.Leu169ArgfsTer8) c.539del (p.Leu180ArgfsTer8) n.505del c.431del (p.Leu144ArgfsTer8) n.334del | |
| 19 | g.55154073A>C | CA407440304 | TNNI3 | c.506T>G (p.Leu169Arg) c.539T>G (p.Leu180Arg) n.505T>G c.431T>G (p.Leu144Arg) n.334T>G | |
| 19 | g.55154073A>G | CA407440305 | TNNI3 | c.506T>C (p.Leu169Pro) c.539T>C (p.Leu180Pro) n.505T>C c.431T>C (p.Leu144Pro) n.334T>C | ClinVar dbSNP |
| 19 | g.55154073A>T | CA407440306 | TNNI3 | c.506T>A (p.Leu169Gln) c.539T>A (p.Leu180Gln) n.505T>A c.431T>A (p.Leu144Gln) n.334T>A | |
| 19 | g.55154074G>A | CA508989389 | TNNI3 | c.505C>T (p.Leu169=) c.538C>T (p.Leu180=) n.504C>T c.430C>T (p.Leu144=) n.333C>T | |
| 19 | g.55154074G>C | CA407440307 | TNNI3 | c.505C>G (p.Leu169Val) c.538C>G (p.Leu180Val) n.504C>G c.430C>G (p.Leu144Val) n.333C>G | |
| 19 | g.55154074G>T | CA407440308 | TNNI3 | c.505C>A (p.Leu169Met) c.538C>A (p.Leu180Met) n.504C>A c.430C>A (p.Leu144Met) n.333C>A | |
| 19 | g.55154075G>A | CA508989390 | TNNI3 | c.504C>T (p.Asp168=) c.537C>T (p.Asp179=) n.503C>T c.429C>T (p.Asp143=) n.332C>T | gnomAD v4 |
| 19 | g.55154075G>C | CA407440309 | TNNI3 | c.504C>G (p.Asp168Glu) c.537C>G (p.Asp179Glu) n.503C>G c.429C>G (p.Asp143Glu) n.332C>G | |
| 19 | g.55154075G= | CA2343273737 | TNNI3 | c.504C= (p.Asp168=) c.537C= (p.Asp179=) n.503C= c.429C= (p.Asp143=) n.332C= | |
| 19 | g.55154075G>T | CA407440310 | TNNI3 | c.504C>A (p.Asp168Glu) c.537C>A (p.Asp179Glu) n.503C>A c.429C>A (p.Asp143Glu) n.332C>A | dbSNP gnomAD v2 |
| 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= |