| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201362019C>T | CA004822 | TNNT2 | c.598G>A (p.Glu200Lys) c.583G>A (p.Glu195Lys) c.571G>A (p.Glu191Lys) c.574G>A (p.Glu192Lys) c.604G>A (p.Glu202Lys) c.562G>A (p.Glu188Lys) n.1074G>A c.613G>A (p.Glu205Lys) c.163-20G>A (n.163-20G>A) c.*513G>A (n.*513G>A) c.484G>A (p.Glu162Lys) c.592G>A (p.Glu198Lys) c.565G>A (p.Glu189Lys) c.397G>A (p.Glu133Lys) n.906G>A n.68G>A n.1822G>A n.509G>A c.580G>A (p.Glu194Lys) c.610G>A (p.Glu204Lys) c.607G>A (p.Glu203Lys) c.568G>A (p.Glu190Lys) c.406G>A (p.Glu136Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201362019C= | CA1142337792 | TNNT2 | c.598G= (p.Glu200=) c.583G= (p.Glu195=) c.571G= (p.Glu191=) c.574G= (p.Glu192=) c.604G= (p.Glu202=) c.562G= (p.Glu188=) n.1074G= c.613G= (p.Glu205=) c.163-20G= (n.163-20G=) c.*513G= (n.*513G=) c.484G= (p.Glu162=) c.592G= (p.Glu198=) c.565G= (p.Glu189=) c.397G= (p.Glu133=) n.906G= n.68G= n.1822G= n.509G= c.580G= (p.Glu194=) c.610G= (p.Glu204=) c.607G= (p.Glu203=) c.568G= (p.Glu190=) c.406G= (p.Glu136=) | dbSNP |
| 1 | g.201362019C>G | CA344204025 | TNNT2 | c.598G>C (p.Glu200Gln) c.583G>C (p.Glu195Gln) c.571G>C (p.Glu191Gln) c.574G>C (p.Glu192Gln) c.604G>C (p.Glu202Gln) c.562G>C (p.Glu188Gln) n.1074G>C c.613G>C (p.Glu205Gln) c.163-20G>C (n.163-20G>C) c.*513G>C (n.*513G>C) c.484G>C (p.Glu162Gln) c.592G>C (p.Glu198Gln) c.565G>C (p.Glu189Gln) c.397G>C (p.Glu133Gln) n.906G>C n.68G>C n.1822G>C n.509G>C c.580G>C (p.Glu194Gln) c.610G>C (p.Glu204Gln) c.607G>C (p.Glu203Gln) c.568G>C (p.Glu190Gln) c.406G>C (p.Glu136Gln) | ClinVar dbSNP |