INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178527151T>G | CA343088 | TTN,TTN-AS1 | c.100133A>C (p.His33378Pro) c.81218A>C (p.His27073Pro) c.81017A>C (p.His27006Pro) c.80642A>C (p.His26881Pro) c.107837A>C (p.His35946Pro) c.102914A>C (p.His34305Pro) n.446+3515T>G n.219+3515T>G c.106934A>C (p.His35645Pro) c.80828A>C (p.His26943Pro) c.80687A>C (p.His26896Pro) c.106730A>C (p.His35577Pro) c.102128A>C (p.His34043Pro) c.102125A>C (p.His34042Pro) c.99167A>C (p.His33056Pro) c.80783A>C (p.His26928Pro) c.102278A>C (p.His34093Pro) c.102275A>C (p.His34092Pro) c.101708A>C (p.His33903Pro) c.99050A>C (p.His33017Pro) c.98969A>C (p.His32990Pro) c.80732A>C (p.His26911Pro) c.70586A>C (p.His23529Pro) | ClinVar dbSNP |
| 2 | g.178527151T= | CA1310514327 | TTN,TTN-AS1 | c.100133A= (p.His33378=) c.81218A= (p.His27073=) c.81017A= (p.His27006=) c.80642A= (p.His26881=) c.107837A= (p.His35946=) c.102914A= (p.His34305=) n.446+3515T= n.219+3515T= c.106934A= (p.His35645=) c.80828A= (p.His26943=) c.80687A= (p.His26896=) c.106730A= (p.His35577=) c.102128A= (p.His34043=) c.102125A= (p.His34042=) c.99167A= (p.His33056=) c.80783A= (p.His26928=) c.102278A= (p.His34093=) c.102275A= (p.His34092=) c.101708A= (p.His33903=) c.99050A= (p.His33017=) c.98969A= (p.His32990=) c.80732A= (p.His26911=) c.70586A= (p.His23529=) | dbSNP |