| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.31748090T>A | CA351833055 | OSBPL10 | c.760A>T (p.Asn254Tyr) c.148A>T (p.Asn50Tyr) c.184A>T (p.Asn62Tyr) c.66A>T c.568A>T (p.Asn190Tyr) n.172A>T n.593A>T n.335A>T n.452A>T c.847A>T (p.Asn283Tyr) c.436A>T (p.Asn146Tyr) c.349A>T (p.Asn117Tyr) c.106A>T (p.Asn36Tyr) | dbSNP |
| 3 | g.31748090T>C | CA2295903 | OSBPL10 | c.760A>G (p.Asn254Asp) c.148A>G (p.Asn50Asp) c.184A>G (p.Asn62Asp) c.66A>G c.568A>G (p.Asn190Asp) n.172A>G n.593A>G n.335A>G n.452A>G c.847A>G (p.Asn283Asp) c.436A>G (p.Asn146Asp) c.349A>G (p.Asn117Asp) c.106A>G (p.Asn36Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.31748090T>G | CA351833056 | OSBPL10 | c.760A>C (p.Asn254His) c.148A>C (p.Asn50His) c.184A>C (p.Asn62His) c.66A>C c.568A>C (p.Asn190His) n.172A>C n.593A>C n.335A>C n.452A>C c.847A>C (p.Asn283His) c.436A>C (p.Asn146His) c.349A>C (p.Asn117His) c.106A>C (p.Asn36His) | dbSNP |
| 3 | g.31748090T= | CA1355390175 | OSBPL10 | c.760A= (p.Asn254=) c.148A= (p.Asn50=) c.184A= (p.Asn62=) c.66A= c.568A= (p.Asn190=) n.172A= n.593A= n.335A= n.452A= c.847A= (p.Asn283=) c.436A= (p.Asn146=) c.349A= (p.Asn117=) c.106A= (p.Asn36=) | dbSNP |