| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178581650G>T | CA261896 | TTN,TTN-AS1 | c.58914C>A (p.Cys19638Ter) c.39999C>A (p.Cys13333Ter) c.39798C>A (p.Cys13266Ter) c.39423C>A (p.Cys13141Ter) c.66618C>A (p.Cys22206Ter) c.61695C>A (p.Cys20565Ter) n.596+10201G>T n.2044-922G>T c.65715C>A (p.Cys21905Ter) c.39609C>A (p.Cys13203Ter) c.39468C>A (p.Cys13156Ter) c.65511C>A (p.Cys21837Ter) c.60909C>A (p.Cys20303Ter) c.60906C>A (p.Cys20302Ter) c.57948C>A (p.Cys19316Ter) c.39564C>A (p.Cys13188Ter) c.61059C>A (p.Cys20353Ter) c.61056C>A (p.Cys20352Ter) c.60489C>A (p.Cys20163Ter) c.57831C>A (p.Cys19277Ter) c.57750C>A (p.Cys19250Ter) c.39513C>A (p.Cys13171Ter) c.29367C>A (p.Cys9789Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178581650G>C | CA349428716 | TTN,TTN-AS1 | c.58914C>G (p.Cys19638Trp) c.39999C>G (p.Cys13333Trp) c.39798C>G (p.Cys13266Trp) c.39423C>G (p.Cys13141Trp) c.66618C>G (p.Cys22206Trp) c.61695C>G (p.Cys20565Trp) n.596+10201G>C n.2044-922G>C c.65715C>G (p.Cys21905Trp) c.39609C>G (p.Cys13203Trp) c.39468C>G (p.Cys13156Trp) c.65511C>G (p.Cys21837Trp) c.60909C>G (p.Cys20303Trp) c.60906C>G (p.Cys20302Trp) c.57948C>G (p.Cys19316Trp) c.39564C>G (p.Cys13188Trp) c.61059C>G (p.Cys20353Trp) c.61056C>G (p.Cys20352Trp) c.60489C>G (p.Cys20163Trp) c.57831C>G (p.Cys19277Trp) c.57750C>G (p.Cys19250Trp) c.39513C>G (p.Cys13171Trp) c.29367C>G (p.Cys9789Trp) | dbSNP gnomAD v4 |
| 2 | g.178581650G= | CA1310535813 | TTN,TTN-AS1 | c.58914C= (p.Cys19638=) c.39999C= (p.Cys13333=) c.39798C= (p.Cys13266=) c.39423C= (p.Cys13141=) c.66618C= (p.Cys22206=) c.61695C= (p.Cys20565=) n.596+10201G= n.2044-922G= c.65715C= (p.Cys21905=) c.39609C= (p.Cys13203=) c.39468C= (p.Cys13156=) c.65511C= (p.Cys21837=) c.60909C= (p.Cys20303=) c.60906C= (p.Cys20302=) c.57948C= (p.Cys19316=) c.39564C= (p.Cys13188=) c.61059C= (p.Cys20353=) c.61056C= (p.Cys20352=) c.60489C= (p.Cys20163=) c.57831C= (p.Cys19277=) c.57750C= (p.Cys19250=) c.39513C= (p.Cys13171=) c.29367C= (p.Cys9789=) | dbSNP |