| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178617845G>T | CA349616561 | TTN,TTN-AS1 | c.39802C>A (p.Gln13268Lys) c.20887C>A (p.Gln6963Lys) c.20686C>A (p.Gln6896Lys) c.20311C>A (p.Gln6771Lys) c.47506C>A (p.Gln15836Lys) c.42583C>A (p.Gln14195Lys) n.1605-1908G>T c.46603C>A (p.Gln15535Lys) c.20497C>A (p.Gln6833Lys) c.20356C>A (p.Gln6786Lys) c.46399C>A (p.Gln15467Lys) c.41797C>A (p.Gln13933Lys) c.41794C>A (p.Gln13932Lys) c.38836C>A (p.Gln12946Lys) c.20452C>A (p.Gln6818Lys) c.41947C>A (p.Gln13983Lys) c.41944C>A (p.Gln13982Lys) c.41377C>A (p.Gln13793Lys) c.38719C>A (p.Gln12907Lys) c.38638C>A (p.Gln12880Lys) c.20401C>A (p.Gln6801Lys) c.10255C>A (p.Gln3419Lys) | dbSNP |
| 2 | g.178617845G>A | CA261868 | TTN,TTN-AS1 | c.39802C>T (p.Gln13268Ter) c.20887C>T (p.Gln6963Ter) c.20686C>T (p.Gln6896Ter) c.20311C>T (p.Gln6771Ter) c.47506C>T (p.Gln15836Ter) c.42583C>T (p.Gln14195Ter) n.1605-1908G>A c.46603C>T (p.Gln15535Ter) c.20497C>T (p.Gln6833Ter) c.20356C>T (p.Gln6786Ter) c.46399C>T (p.Gln15467Ter) c.41797C>T (p.Gln13933Ter) c.41794C>T (p.Gln13932Ter) c.38836C>T (p.Gln12946Ter) c.20452C>T (p.Gln6818Ter) c.41947C>T (p.Gln13983Ter) c.41944C>T (p.Gln13982Ter) c.41377C>T (p.Gln13793Ter) c.38719C>T (p.Gln12907Ter) c.38638C>T (p.Gln12880Ter) c.20401C>T (p.Gln6801Ter) c.10255C>T (p.Gln3419Ter) | ClinVar dbSNP |
| 2 | g.178617845G= | CA1310550807 | TTN,TTN-AS1 | c.39802C= (p.Gln13268=) c.20887C= (p.Gln6963=) c.20686C= (p.Gln6896=) c.20311C= (p.Gln6771=) c.47506C= (p.Gln15836=) c.42583C= (p.Gln14195=) n.1605-1908G= c.46603C= (p.Gln15535=) c.20497C= (p.Gln6833=) c.20356C= (p.Gln6786=) c.46399C= (p.Gln15467=) c.41797C= (p.Gln13933=) c.41794C= (p.Gln13932=) c.38836C= (p.Gln12946=) c.20452C= (p.Gln6818=) c.41947C= (p.Gln13983=) c.41944C= (p.Gln13982=) c.41377C= (p.Gln13793=) c.38719C= (p.Gln12907=) c.38638C= (p.Gln12880=) c.20401C= (p.Gln6801=) c.10255C= (p.Gln3419=) | dbSNP |