Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.102351615T>C | CA1809660 | IL18R1,IL1RL1 | c.1365T>C (p.Asn455=) c.-28-11018T>C (n.-28-11018T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.102351615T>A | CA347946095 | IL18R1,IL1RL1 | c.1365T>A (p.Asn455Lys) c.-28-11018T>A (n.-28-11018T>A) | dbSNP gnomAD v4 |
2 | g.102351615T>G | CA347946100 | IL18R1,IL1RL1 | c.1365T>G (p.Asn455Lys) c.-28-11018T>G (n.-28-11018T>G) | dbSNP gnomAD v3 gnomAD v4 |