| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.55151860C>A | CA407439470 | TNNI3 | c.607G>T (p.Gly203Cys) c.640G>T (p.Gly214Cys) n.606G>T c.532G>T (p.Gly178Cys) n.435G>T | |
| 19 | g.55151860C= | CA2343272506 | TNNI3 | c.607G= (p.Gly203=) c.640G= (p.Gly214=) n.606G= c.532G= (p.Gly178=) n.435G= | |
| 19 | g.55151860C>G | CA407439472 | TNNI3 | c.607G>C (p.Gly203Arg) c.640G>C (p.Gly214Arg) n.606G>C c.532G>C (p.Gly178Arg) n.435G>C | |
| 19 | g.55151860C>T | CA022043 | TNNI3 | c.607G>A (p.Gly203Ser) c.640G>A (p.Gly214Ser) n.606G>A c.532G>A (p.Gly178Ser) n.435G>A | ClinVar dbSNP |
| 19 | g.55151861C>A | CA407439474 | TNNI3 | c.606G>T (p.Glu202Asp) c.639G>T (p.Glu213Asp) n.605G>T c.531G>T (p.Glu177Asp) n.434G>T | |
| 19 | g.55151861C= | CA2343272513 | TNNI3 | c.606G= (p.Glu202=) c.639G= (p.Glu213=) n.605G= c.531G= (p.Glu177=) n.434G= | |
| 19 | g.55151861C>G | CA407439477 | TNNI3 | c.606G>C (p.Glu202Asp) c.639G>C (p.Glu213Asp) n.605G>C c.531G>C (p.Glu177Asp) n.434G>C | |
| 19 | g.55151861C>T | CA310144864 | TNNI3 | c.606G>A (p.Glu202=) c.639G>A (p.Glu213=) n.605G>A c.531G>A (p.Glu177=) n.434G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55151862T>A | CA407439479 | TNNI3 | c.605A>T (p.Glu202Val) c.638A>T (p.Glu213Val) n.604A>T c.530A>T (p.Glu177Val) n.433A>T | |
| 19 | g.55151862T>C | CA407439480 | TNNI3 | c.605A>G (p.Glu202Gly) c.638A>G (p.Glu213Gly) n.604A>G c.530A>G (p.Glu177Gly) n.433A>G | ClinVar gnomAD v4 |
| 19 | g.55151862T>G | CA407439482 | TNNI3 | c.605A>C (p.Glu202Ala) c.638A>C (p.Glu213Ala) n.604A>C c.530A>C (p.Glu177Ala) n.433A>C | gnomAD v4 |
| 19 | g.55151863C>A | CA407439484 | TNNI3 | c.604G>T (p.Glu202Ter) c.637G>T (p.Glu213Ter) n.603G>T c.529G>T (p.Glu177Ter) n.432G>T | gnomAD v4 |
| 19 | g.55151863C= | CA2343272516 | TNNI3 | c.604G= (p.Glu202=) c.637G= (p.Glu213=) n.603G= c.529G= (p.Glu177=) n.432G= | |
| 19 | g.55151863C>G | CA407439485 | TNNI3 | c.604G>C (p.Glu202Gln) c.637G>C (p.Glu213Gln) n.603G>C c.529G>C (p.Glu177Gln) n.432G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.55151863C>T | CA407439486 | TNNI3 | c.604G>A (p.Glu202Lys) c.637G>A (p.Glu213Lys) n.603G>A c.529G>A (p.Glu177Lys) n.432G>A | |
| 19 | g.55151864C>A | CA407439488 | TNNI3 | c.603G>T (p.Met201Ile) c.636G>T (p.Met212Ile) n.602G>T c.528G>T (p.Met176Ile) n.431G>T | |
| 19 | g.55151864C= | CA2343272519 | TNNI3 | c.603G= (p.Met201=) c.636G= (p.Met212=) n.602G= c.528G= (p.Met176=) n.431G= | |
| 19 | g.55151864C>G | CA051926 | TNNI3 | c.603G>C (p.Met201Ile) c.636G>C (p.Met212Ile) n.602G>C c.528G>C (p.Met176Ile) n.431G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55151864C>T | CA407439490 | TNNI3 | c.603G>A (p.Met201Ile) c.636G>A (p.Met212Ile) n.602G>A c.528G>A (p.Met176Ile) n.431G>A | gnomAD v4 |
| 19 | g.55151865A= | CA2343272522 | TNNI3 | c.602T= (p.Met201=) c.635T= (p.Met212=) n.601T= c.527T= (p.Met176=) n.430T= | |
| 19 | g.55151865A>C | CA407439494 | TNNI3 | c.602T>G (p.Met201Arg) c.635T>G (p.Met212Arg) n.601T>G c.527T>G (p.Met176Arg) n.430T>G | |
| 19 | g.55151865A>G | CA022037 | TNNI3 | c.602T>C (p.Met201Thr) c.635T>C (p.Met212Thr) n.601T>C c.527T>C (p.Met176Thr) n.430T>C | ClinVar dbSNP |
| 19 | g.55151865A>T | CA407439492 | TNNI3 | c.602T>A (p.Met201Lys) c.635T>A (p.Met212Lys) n.601T>A c.527T>A (p.Met176Lys) n.430T>A | |
| 19 | g.55151866T>A | CA407439495 | TNNI3 | c.601A>T (p.Met201Leu) c.634A>T (p.Met212Leu) n.600A>T c.526A>T (p.Met176Leu) n.429A>T | |
| 19 | g.55151866T>C | CA407439497 | TNNI3 | c.601A>G (p.Met201Val) c.634A>G (p.Met212Val) n.600A>G c.526A>G (p.Met176Val) n.429A>G | gnomAD v4 |
| 19 | g.55151866T>G | CA407439496 | TNNI3 | c.601A>C (p.Met201Leu) c.634A>C (p.Met212Leu) n.600A>C c.526A>C (p.Met176Leu) n.429A>C | |
| 19 | g.55151867T>A | CA508989337 | TNNI3 | c.600A>T (p.Gly200=) c.633A>T (p.Gly211=) n.599A>T c.525A>T (p.Gly175=) n.428A>T | |
| 19 | g.55151867T>C | CA508989335 | TNNI3 | c.600A>G (p.Gly200=) c.633A>G (p.Gly211=) n.599A>G c.525A>G (p.Gly175=) n.428A>G | |
| 19 | g.55151867T>G | CA508989336 | TNNI3 | c.600A>C (p.Gly200=) c.633A>C (p.Gly211=) n.599A>C c.525A>C (p.Gly175=) n.428A>C | |
| 19 | g.55151868C>A | CA16616444 | TNNI3 | c.599G>T (p.Gly200Val) c.632G>T (p.Gly211Val) n.598G>T c.524G>T (p.Gly175Val) n.427G>T | ClinVar dbSNP |
| 19 | g.55151868C= | CA2343272527 | TNNI3 | c.599G= (p.Gly200=) c.632G= (p.Gly211=) n.598G= c.524G= (p.Gly175=) n.427G= | |
| 19 | g.55151868C>G | CA407439498 | TNNI3 | c.599G>C (p.Gly200Ala) c.632G>C (p.Gly211Ala) n.598G>C c.524G>C (p.Gly175Ala) n.427G>C | |
| 19 | g.55151868C>T | CA10583862 | TNNI3 | c.599G>A (p.Gly200Glu) c.632G>A (p.Gly211Glu) n.598G>A c.524G>A (p.Gly175Glu) n.427G>A | ClinVar dbSNP |
| 19 | g.55151869C>A | CA407439500 | TNNI3 | c.598G>T (p.Gly200Ter) c.631G>T (p.Gly211Ter) n.597G>T c.523G>T (p.Gly175Ter) n.426G>T | |
| 19 | g.55151869C>G | CA407439501 | TNNI3 | c.598G>C (p.Gly200Arg) c.631G>C (p.Gly211Arg) n.597G>C c.523G>C (p.Gly175Arg) n.426G>C | |
| 19 | g.55151869C>T | CA407439502 | TNNI3 | c.598G>A (p.Gly200Arg) c.631G>A (p.Gly211Arg) n.597G>A c.523G>A (p.Gly175Arg) n.426G>A | |
| 19 | g.55151870del | CA2580097811 | TNNI3 | c.597del (p.Ser199ArgfsTer22) c.630del (p.Ser210ArgfsTer22) n.596del c.522del (p.Ser174ArgfsTer22) n.425del | ClinVar |
| 19 | g.55151870A= | CA2343272532 | TNNI3 | c.597T= (p.Ser199=) c.630T= (p.Ser210=) n.596T= c.522T= (p.Ser174=) n.425T= | |
| 19 | g.55151870A>C | CA407439503 | TNNI3 | c.597T>G (p.Ser199Arg) c.630T>G (p.Ser210Arg) n.596T>G c.522T>G (p.Ser174Arg) n.425T>G | |
| 19 | g.55151870A>G | CA508989338 | TNNI3 | c.597T>C (p.Ser199=) c.630T>C (p.Ser210=) n.596T>C c.522T>C (p.Ser174=) n.425T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55151870A>T | CA407439505 | TNNI3 | c.597T>A (p.Ser199Arg) c.630T>A (p.Ser210Arg) n.596T>A c.522T>A (p.Ser174Arg) n.425T>A | |
| 19 | g.55151871C>A | CA407439507 | TNNI3 | c.596G>T (p.Ser199Ile) c.629G>T (p.Ser210Ile) n.595G>T c.521G>T (p.Ser174Ile) n.424G>T | |
| 19 | g.55151871C= | CA2343272536 | TNNI3 | c.596G= (p.Ser199=) c.629G= (p.Ser210=) n.595G= c.521G= (p.Ser174=) n.424G= | |
| 19 | g.55151871C>G | CA407439509 | TNNI3 | c.596G>C (p.Ser199Thr) c.629G>C (p.Ser210Thr) n.595G>C c.521G>C (p.Ser174Thr) n.424G>C | |
| 19 | g.55151871C>T | CA022024 | TNNI3 | c.596G>A (p.Ser199Asn) c.629G>A (p.Ser210Asn) n.595G>A c.521G>A (p.Ser174Asn) n.424G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.55151872T>A | CA407439519 | TNNI3 | c.595A>T (p.Ser199Cys) c.628A>T (p.Ser210Cys) n.594A>T c.520A>T (p.Ser174Cys) n.423A>T | ClinVar dbSNP |
| 19 | g.55151872T>C | CA407439517 | TNNI3 | c.595A>G (p.Ser199Gly) c.628A>G (p.Ser210Gly) n.594A>G c.520A>G (p.Ser174Gly) n.423A>G | dbSNP |
| 19 | g.55151872T>G | CA407439514 | TNNI3 | c.595A>C (p.Ser199Arg) c.628A>C (p.Ser210Arg) n.594A>C c.520A>C (p.Ser174Arg) n.423A>C | |
| 19 | g.55151872T= | CA2343272541 | TNNI3 | c.595A= (p.Ser199=) c.628A= (p.Ser210=) n.594A= c.520A= (p.Ser174=) n.423A= | |
| 19 | g.55151873C>A | CA508989341 | TNNI3 | c.594G>T (p.Leu198=) c.627G>T (p.Leu209=) n.593G>T c.519G>T (p.Leu173=) n.422G>T |