| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88118536_88118537del | CA233679 | CEP290 | c.1665_1666del (p.Lys555AsnfsTer20) c.1611_1612del (p.Lys537AsnfsTer20) n.3334_3335del c.1665_1666del (p.Lys555AsnfsTer24) c.1644_1645del (p.Lys548AsnfsTer20) c.*211_*212del (n.*211_*212del) n.1892_1893del c.*2620_*2621del (n.*2620_*2621del) n.3728_3729del c.*122_*123del (n.*122_*123del) c.1671_1672del (p.Lys557AsnfsTer20) c.1563_1564del (p.Lys521AsnfsTer20) c.831_832del (p.Lys277AsnfsTer20) c.126_127del (p.Lys42AsnfsTer20) n.2009_2010del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88118537del | CA277812 | CEP290 | c.1666del (p.Ile556PhefsTer17) c.1612del (p.Ile538PhefsTer17) n.3335del c.1666del (p.Ile556PhefsTer?) c.1645del (p.Ile549PhefsTer17) c.*212del (n.*212del) n.1893del c.*2621del (n.*2621del) n.3729del c.*123del (n.*123del) c.1672del (p.Ile558PhefsTer17) c.1564del (p.Ile522PhefsTer17) c.832del (p.Ile278PhefsTer17) c.127del (p.Ile43PhefsTer17) n.2010del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.88118537dup | CA277788 | CEP290 | c.1666dup (p.Ile556AsnfsTer20) c.1612dup (p.Ile538AsnfsTer20) n.3335dup c.1666dup (p.Ile556AsnfsTer24) c.1645dup (p.Ile549AsnfsTer20) c.*212dup (n.*212dup) n.1893dup c.*2621dup (n.*2621dup) n.3729dup c.*123dup (n.*123dup) c.1672dup (p.Ile558AsnfsTer20) c.1564dup (p.Ile522AsnfsTer20) c.832dup (p.Ile278AsnfsTer20) c.127dup (p.Ile43AsnfsTer20) n.2010dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |