Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.30672335T>G | CA351808650 | TGFBR2 | c.1152T>G (p.Asn384Lys) n.2748T>G c.1227T>G (p.Asn409Lys) c.1179T>G (p.Asn393Lys) c.1104T>G (p.Asn368Lys) c.1047T>G (p.Asn349Lys) | ClinVar dbSNP |
3 | g.30672335T>C | CA432917606 | TGFBR2 | c.1152T>C (p.Asn384=) n.2748T>C c.1227T>C (p.Asn409=) c.1179T>C (p.Asn393=) c.1104T>C (p.Asn368=) c.1047T>C (p.Asn349=) | ClinVar dbSNP |
3 | g.30672335T>A | CA020613 | TGFBR2 | c.1152T>A (p.Asn384Lys) n.2748T>A c.1227T>A (p.Asn409Lys) c.1179T>A (p.Asn393Lys) c.1104T>A (p.Asn368Lys) c.1047T>A (p.Asn349Lys) | ClinVar dbSNP |