CABP5 calcium binding protein 5

Canonical transcript: NM_019855

21 unique variant annotations were identified in 14 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-48534068-T-G c.497-229A>C - IntronicSNV - 5/5 1
19-48535012-G-A c.497-1173C>T - IntronicSNV - 5/5 1
19-48536725-A-C c.496+747T>G - IntronicSNV - 5/5 1
19-48537550-C-A c.418G>T p.Glu140* Nonsense 5/6 - 1
19-48537550-C-G c.418G>C p.Glu140Gln Missense 5/6 - 1
19-48537550-C-T c.418G>A p.Glu140Lys Missense 5/6 - 1
19-48537585-A-G c.383T>C p.Val128Ala Missense 5/6 - 3
19-48542532-G-T c.281C>A p.Thr94Asn Missense 4/6 - 1
19-48543862-G-A c.238C>T p.Leu80Leu Synonymous 3/6 - 2
19-48543862-G-T c.238C>A p.Leu80Met Missense 3/6 - 2
19-48543883-C-G c.217G>C p.Gly73Arg Missense 3/6 - 1
19-48543883-C-T c.217G>A p.Gly73Ser Missense 3/6 - 1
19-48543899-C-A c.201G>T p.Met67Ile Missense 3/6 - 1
19-48543899-C-G c.201G>C p.Met67Ile Missense 3/6 - 1
19-48543899-C-T c.201G>A p.Met67Ile Missense 3/6 - 1
19-48543906-G-A c.194C>T p.Thr65Met Missense 3/6 - 1
19-48543906-G-C c.194C>G p.Thr65Arg Missense 3/6 - 1
19-48543906-G-T c.194C>A p.Thr65Lys Missense 3/6 - 1
19-48543931-T-A c.169A>T p.Met57Leu Missense 3/6 - 1
19-48543931-T-G c.169A>C p.Met57Leu Missense 3/6 - 1
19-48543969-C-T c.131G>A p.Arg44Gln Missense 3/6 - 1