Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178582296C>TCA349429752TTN,TTN-AS1c.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
2g.178582296C>ACA16604132TTN,TTN-AS1c.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
2g.178582296C=CA1310536120TTN,TTN-AS1c.58456G= (p.Asp19486=)
c.39541G= (p.Asp13181=)
c.39340G= (p.Asp13114=)
c.38965G= (p.Asp12989=)
c.66160G= (p.Asp22054=)
c.61237G= (p.Asp20413=)
n.596+10847C=
n.2044-276C=
c.65257G= (p.Asp21753=)
c.39151G= (p.Asp13051=)
c.39010G= (p.Asp13004=)
c.65053G= (p.Asp21685=)
c.60451G= (p.Asp20151=)
c.60448G= (p.Asp20150=)
c.57490G= (p.Asp19164=)
c.39106G= (p.Asp13036=)
c.60601G= (p.Asp20201=)
c.60598G= (p.Asp20200=)
c.60031G= (p.Asp20011=)
c.57373G= (p.Asp19125=)
c.57292G= (p.Asp19098=)
c.39055G= (p.Asp13019=)
c.28909G= (p.Asp9637=)
 dbSNP

Number of alleles fetched