| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178582086G>A | CA236091 | TTN,TTN-AS1 | c.58579C>T (p.Arg19527Trp) c.39664C>T (p.Arg13222Trp) c.39463C>T (p.Arg13155Trp) c.39088C>T (p.Arg13030Trp) c.66283C>T (p.Arg22095Trp) c.61360C>T (p.Arg20454Trp) n.596+10637G>A n.2044-486G>A c.65380C>T (p.Arg21794Trp) c.39274C>T (p.Arg13092Trp) c.39133C>T (p.Arg13045Trp) c.65176C>T (p.Arg21726Trp) c.60574C>T (p.Arg20192Trp) c.60571C>T (p.Arg20191Trp) c.57613C>T (p.Arg19205Trp) c.39229C>T (p.Arg13077Trp) c.60724C>T (p.Arg20242Trp) c.60721C>T (p.Arg20241Trp) c.60154C>T (p.Arg20052Trp) c.57496C>T (p.Arg19166Trp) c.57415C>T (p.Arg19139Trp) c.39178C>T (p.Arg13060Trp) c.29032C>T (p.Arg9678Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178582086G= | CA1310536021 | TTN,TTN-AS1 | c.58579C= (p.Arg19527=) c.39664C= (p.Arg13222=) c.39463C= (p.Arg13155=) c.39088C= (p.Arg13030=) c.66283C= (p.Arg22095=) c.61360C= (p.Arg20454=) n.596+10637G= n.2044-486G= c.65380C= (p.Arg21794=) c.39274C= (p.Arg13092=) c.39133C= (p.Arg13045=) c.65176C= (p.Arg21726=) c.60574C= (p.Arg20192=) c.60571C= (p.Arg20191=) c.57613C= (p.Arg19205=) c.39229C= (p.Arg13077=) c.60724C= (p.Arg20242=) c.60721C= (p.Arg20241=) c.60154C= (p.Arg20052=) c.57496C= (p.Arg19166=) c.57415C= (p.Arg19139=) c.39178C= (p.Arg13060=) c.29032C= (p.Arg9678=) | dbSNP |
| 2 | g.178582086G>C | CA349429470 | TTN,TTN-AS1 | c.58579C>G (p.Arg19527Gly) c.39664C>G (p.Arg13222Gly) c.39463C>G (p.Arg13155Gly) c.39088C>G (p.Arg13030Gly) c.66283C>G (p.Arg22095Gly) c.61360C>G (p.Arg20454Gly) n.596+10637G>C n.2044-486G>C c.65380C>G (p.Arg21794Gly) c.39274C>G (p.Arg13092Gly) c.39133C>G (p.Arg13045Gly) c.65176C>G (p.Arg21726Gly) c.60574C>G (p.Arg20192Gly) c.60571C>G (p.Arg20191Gly) c.57613C>G (p.Arg19205Gly) c.39229C>G (p.Arg13077Gly) c.60724C>G (p.Arg20242Gly) c.60721C>G (p.Arg20241Gly) c.60154C>G (p.Arg20052Gly) c.57496C>G (p.Arg19166Gly) c.57415C>G (p.Arg19139Gly) c.39178C>G (p.Arg13060Gly) c.29032C>G (p.Arg9678Gly) | dbSNP |