| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.97343500C>T | CA374158817 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2435C>T (p.Ser812Phe) n.2769C>T n.2638C>T n.531C>T c.2567C>T (p.Ser856Phe) n.236-5611C>T n.3990C>T n.3550C>T c.2558C>T (p.Ser853Phe) c.2426C>T (p.Ser809Phe) | dbSNP |
| 9 | g.97343500C>G | CA5145576 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2435C>G (p.Ser812Cys) n.2769C>G n.2638C>G n.531C>G c.2567C>G (p.Ser856Cys) n.236-5611C>G n.3990C>G n.3550C>G c.2558C>G (p.Ser853Cys) c.2426C>G (p.Ser809Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.97343500C= | CA1866473531 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2435C= (p.Ser812=) n.2769C= n.2638C= n.531C= c.2567C= (p.Ser856=) n.236-5611C= n.3990C= n.3550C= c.2558C= (p.Ser853=) c.2426C= (p.Ser809=) | dbSNP |