CHRD chordin

Canonical transcript: NM_003741

17 unique variant annotations were identified in 19 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-184098167-T-G c.61T>G p.Ser21Ala Missense 1/23 - 1
3-184098215-C-A c.109C>A p.Arg37Ser Missense 1/23 - 1
3-184099050-C-T c.280C>T p.Pro94Ser Missense 3/23 - 1
3-184099206-C-T c.382+54C>T - IntronicSNV - 3/22 3
3-184099271-C-CT c.383-13_383-12insT - IntronicInsertion - 3/22 1
3-184099342-G-A c.441G>A p.Pro147Pro Synonymous 4/23 - 1
3-184099342-G-C c.441G>C p.Pro147Pro Synonymous 4/23 - 1
3-184099533-TCG-GAC c.541_543delinsGAC p.Ser181Asp Missense 5/23 - 1
3-184101353-CT-TA c.1363_1364delinsTA p.Leu455* Nonsense 12/23 - 4
3-184102396-C-T c.1512C>T p.Asn504Asn Synonymous 13/23 - 2
3-184102470-C-T c.1586C>T p.Ala529Val Missense 13/23 - 1
3-184103862-C-T c.1847C>T p.Pro616Leu Missense 15/23 - 1
3-184103903-A-C c.1888A>C p.Met630Leu Missense 15/23 - 3
3-184104344-T-G c.1997T>G p.Val666Gly Missense 16/23 - 1
3-184104864-A-G c.2316A>G p.Pro772Pro Synonymous 18/23 - 1
3-184105726-C-G c.2459C>G p.Thr820Ser Missense 20/23 - 1
3-184105726-C-T c.2459C>T p.Thr820Ile Missense 20/23 - 1