| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178575378del | CA10604246 | TTN,TTN-AS1 | c.63050del (p.Val21017GlyfsTer4) c.44135del (p.Val14712GlyfsTer4) c.43934del (p.Val14645GlyfsTer4) c.43559del (p.Val14520GlyfsTer4) c.70754del (p.Val23585GlyfsTer4) c.65831del (p.Val21944GlyfsTer4) n.596+3929del n.2044-7194del c.69851del (p.Val23284GlyfsTer4) c.43745del (p.Val14582GlyfsTer4) c.43604del (p.Val14535GlyfsTer4) c.69647del (p.Val23216GlyfsTer4) c.65045del (p.Val21682GlyfsTer4) c.65042del (p.Val21681GlyfsTer4) c.62084del (p.Val20695GlyfsTer4) c.43700del (p.Val14567GlyfsTer4) c.65195del (p.Val21732GlyfsTer4) c.65192del (p.Val21731GlyfsTer4) c.64625del (p.Val21542GlyfsTer4) c.61967del (p.Val20656GlyfsTer4) c.61886del (p.Val20629GlyfsTer4) c.43649del (p.Val14550GlyfsTer4) c.33503del (p.Val11168GlyfsTer4) | ClinVar dbSNP |
| 2 | g.178575378A= | CA3085720510 | TTN,TTN-AS1 | c.63050T= (p.Val21017=) c.44135T= (p.Val14712=) c.43934T= (p.Val14645=) c.43559T= (p.Val14520=) c.70754T= (p.Val23585=) c.65831T= (p.Val21944=) n.596+3929A= n.2044-7194A= c.69851T= (p.Val23284=) c.43745T= (p.Val14582=) c.43604T= (p.Val14535=) c.69647T= (p.Val23216=) c.65045T= (p.Val21682=) c.65042T= (p.Val21681=) c.62084T= (p.Val20695=) c.43700T= (p.Val14567=) c.65195T= (p.Val21732=) c.65192T= (p.Val21731=) c.64625T= (p.Val21542=) c.61967T= (p.Val20656=) c.61886T= (p.Val20629=) c.43649T= (p.Val14550=) c.33503T= (p.Val11168=) | dbSNP dbSNP |