| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672334A>C | CA351808649 | TGFBR2 | c.1151A>C (p.Asn384Thr) n.2747A>C c.1226A>C (p.Asn409Thr) c.1178A>C (p.Asn393Thr) c.1103A>C (p.Asn368Thr) c.1046A>C (p.Asn349Thr) | ClinVar dbSNP |
| 3 | g.30672334A>T | CA351808648 | TGFBR2 | c.1151A>T (p.Asn384Ile) n.2747A>T c.1226A>T (p.Asn409Ile) c.1178A>T (p.Asn393Ile) c.1103A>T (p.Asn368Ile) c.1046A>T (p.Asn349Ile) | dbSNP |
| 3 | g.30672334A>G | CA020609 | TGFBR2 | c.1151A>G (p.Asn384Ser) n.2747A>G c.1226A>G (p.Asn409Ser) c.1178A>G (p.Asn393Ser) c.1103A>G (p.Asn368Ser) c.1046A>G (p.Asn349Ser) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672334A= | CA1354873245 | TGFBR2 | c.1151A= (p.Asn384=) n.2747A= c.1226A= (p.Asn409=) c.1178A= (p.Asn393=) c.1103A= (p.Asn368=) c.1046A= (p.Asn349=) | dbSNP |