| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.53961790G>A | CA351436 | PCDH15 | c.3007C>T (p.Arg1003Ter) c.2971C>T (p.Arg991Ter) c.2992C>T (p.Arg998Ter) c.1830C>T c.*926C>T (n.*926C>T) c.2986C>T (p.Arg996Ter) c.2860C>T (p.Arg954Ter) c.2905C>T (p.Arg969Ter) c.1306-152244C>T (n.1306-152244C>T) c.1099-152244C>T (n.1099-152244C>T) c.2091+117541C>T (n.2091+117541C>T) c.1804C>T (p.Arg602Ter) c.877-121294C>T (n.877-121294C>T) c.2758C>T (p.Arg920Ter) c.-24-104527C>T (n.-24-104527C>T) n.3984C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.53961790G>T | CA469494979 | PCDH15 | c.3007C>A (p.Arg1003=) c.2971C>A (p.Arg991=) c.2992C>A (p.Arg998=) c.1830C>A c.*926C>A (n.*926C>A) c.2986C>A (p.Arg996=) c.2860C>A (p.Arg954=) c.2905C>A (p.Arg969=) c.1306-152244C>A (n.1306-152244C>A) c.1099-152244C>A (n.1099-152244C>A) c.2091+117541C>A (n.2091+117541C>A) c.1804C>A (p.Arg602=) c.877-121294C>A (n.877-121294C>A) c.2758C>A (p.Arg920=) c.-24-104527C>A (n.-24-104527C>A) n.3984C>A | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.53961790G>C | CA5505865 | PCDH15 | c.3007C>G (p.Arg1003Gly) c.2971C>G (p.Arg991Gly) c.2992C>G (p.Arg998Gly) c.1830C>G c.*926C>G (n.*926C>G) c.2986C>G (p.Arg996Gly) c.2860C>G (p.Arg954Gly) c.2905C>G (p.Arg969Gly) c.1306-152244C>G (n.1306-152244C>G) c.1099-152244C>G (n.1099-152244C>G) c.2091+117541C>G (n.2091+117541C>G) c.1804C>G (p.Arg602Gly) c.877-121294C>G (n.877-121294C>G) c.2758C>G (p.Arg920Gly) c.-24-104527C>G (n.-24-104527C>G) n.3984C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |