| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178582296C>T | CA349429752 | TTN,TTN-AS1 | c.58456G>A (p.Asp19486Asn) c.39541G>A (p.Asp13181Asn) c.39340G>A (p.Asp13114Asn) c.38965G>A (p.Asp12989Asn) c.66160G>A (p.Asp22054Asn) c.61237G>A (p.Asp20413Asn) n.596+10847C>T n.2044-276C>T c.65257G>A (p.Asp21753Asn) c.39151G>A (p.Asp13051Asn) c.39010G>A (p.Asp13004Asn) c.65053G>A (p.Asp21685Asn) c.60451G>A (p.Asp20151Asn) c.60448G>A (p.Asp20150Asn) c.57490G>A (p.Asp19164Asn) c.39106G>A (p.Asp13036Asn) c.60601G>A (p.Asp20201Asn) c.60598G>A (p.Asp20200Asn) c.60031G>A (p.Asp20011Asn) c.57373G>A (p.Asp19125Asn) c.57292G>A (p.Asp19098Asn) c.39055G>A (p.Asp13019Asn) c.28909G>A (p.Asp9637Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178582296C>A | CA16604132 | TTN,TTN-AS1 | c.58456G>T (p.Asp19486Tyr) c.39541G>T (p.Asp13181Tyr) c.39340G>T (p.Asp13114Tyr) c.38965G>T (p.Asp12989Tyr) c.66160G>T (p.Asp22054Tyr) c.61237G>T (p.Asp20413Tyr) n.596+10847C>A n.2044-276C>A c.65257G>T (p.Asp21753Tyr) c.39151G>T (p.Asp13051Tyr) c.39010G>T (p.Asp13004Tyr) c.65053G>T (p.Asp21685Tyr) c.60451G>T (p.Asp20151Tyr) c.60448G>T (p.Asp20150Tyr) c.57490G>T (p.Asp19164Tyr) c.39106G>T (p.Asp13036Tyr) c.60601G>T (p.Asp20201Tyr) c.60598G>T (p.Asp20200Tyr) c.60031G>T (p.Asp20011Tyr) c.57373G>T (p.Asp19125Tyr) c.57292G>T (p.Asp19098Tyr) c.39055G>T (p.Asp13019Tyr) c.28909G>T (p.Asp9637Tyr) | ClinVar dbSNP gnomAD v4 |