Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.33799852G>T | CA358132 | ITSN1 | c.2227G>T (p.Val743Leu) c.*1187G>T (n.*1187G>T) c.2116G>T (p.Val706Leu) c.100G>T (p.Val34Leu) c.441+107489C>A (n.441+107489C>A) n.2573G>T c.619G>T (p.Val207Leu) n.2520G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.33799852G>A | CA410133730 | ITSN1 | c.2227G>A (p.Val743Met) c.*1187G>A (n.*1187G>A) c.2116G>A (p.Val706Met) c.100G>A (p.Val34Met) c.441+107489C>T (n.441+107489C>T) n.2573G>A c.619G>A (p.Val207Met) n.2520G>A | dbSNP |