| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201359639T>C | CA005159 | TNNT2 | c.820A>G (p.Asn274Asp) c.805A>G (p.Asn269Asp) c.793A>G (p.Asn265Asp) c.796A>G (p.Asn266Asp) c.826A>G (p.Asn276Asp) c.784A>G (p.Asn262Asp) n.1296A>G c.835A>G (p.Asn279Asp) c.870A>G (p.Ser290=) c.*194A>G (n.*194A>G) c.*735A>G (n.*735A>G) c.*80A>G (n.*80A>G) c.706A>G (p.Asn236Asp) c.814A>G (p.Asn272Asp) c.787A>G (p.Asn263Asp) c.619A>G (p.Asn207Asp) n.1954A>G n.252A>G n.2044A>G c.802A>G (p.Asn268Asp) c.832A>G (p.Asn278Asp) c.829A>G (p.Asn277Asp) c.790A>G (p.Asn264Asp) c.628A>G (p.Asn210Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201359639T>A | CA005165 | TNNT2 | c.820A>T (p.Asn274Tyr) c.805A>T (p.Asn269Tyr) c.793A>T (p.Asn265Tyr) c.796A>T (p.Asn266Tyr) c.826A>T (p.Asn276Tyr) c.784A>T (p.Asn262Tyr) n.1296A>T c.835A>T (p.Asn279Tyr) c.870A>T (p.Ser290=) c.*194A>T (n.*194A>T) c.*735A>T (n.*735A>T) c.*80A>T (n.*80A>T) c.706A>T (p.Asn236Tyr) c.814A>T (p.Asn272Tyr) c.787A>T (p.Asn263Tyr) c.619A>T (p.Asn207Tyr) n.1954A>T n.252A>T n.2044A>T c.802A>T (p.Asn268Tyr) c.832A>T (p.Asn278Tyr) c.829A>T (p.Asn277Tyr) c.790A>T (p.Asn264Tyr) c.628A>T (p.Asn210Tyr) | ClinVar dbSNP |
| 1 | g.201359639T= | CA1140026365 | TNNT2 | c.820A= (p.Asn274=) c.805A= (p.Asn269=) c.793A= (p.Asn265=) c.796A= (p.Asn266=) c.826A= (p.Asn276=) c.784A= (p.Asn262=) n.1296A= c.835A= (p.Asn279=) c.870A= (p.Ser290=) c.*194A= (n.*194A=) c.*735A= (n.*735A=) c.*80A= (n.*80A=) c.706A= (p.Asn236=) c.814A= (p.Asn272=) c.787A= (p.Asn263=) c.619A= (p.Asn207=) n.1954A= n.252A= n.2044A= c.802A= (p.Asn268=) c.832A= (p.Asn278=) c.829A= (p.Asn277=) c.790A= (p.Asn264=) c.628A= (p.Asn210=) | dbSNP |