| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.38481601G>T | CA3242471 | LIFR | c.3288C>A (p.Asn1096Lys) c.3255C>A (p.Asn1085Lys) c.3342C>A (p.Asn1114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481601G>A | CA201780 | LIFR | c.3288C>T (p.Asn1096=) c.3255C>T (p.Asn1085=) c.3342C>T (p.Asn1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481601G= | CA1540248761 | LIFR | c.3288C= (p.Asn1096=) c.3255C= (p.Asn1085=) c.3342C= (p.Asn1114=) | dbSNP |