KLRC1 killer cell lectin like receptor C1

Canonical transcript: NM_002259

29 unique variant annotations were identified in 24 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-10598802-A-T c.*348T>A - 3-UTRSNV 7/7 - 2
12-10599177-T-C c.675A>G p.Ile225Met Missense 7/7 - 1
12-10599662-T-C c.591-401A>G - IntronicSNV - 6/6 1
12-10600224-A-C c.497T>G p.Leu166Arg Missense 6/7 - 2
12-10600368-G-A c.490-137C>T - IntronicSNV - 5/6 1
12-10600579-T-G c.490-348A>C - IntronicSNV - 5/6 1
12-10600668-C-A c.490-437G>T - IntronicSNV - 5/6 1
12-10600668-C-G c.490-437G>C - IntronicSNV - 5/6 1
12-10601306-T-C c.489+530A>G - IntronicSNV - 5/6 1
12-10601690-C-T c.489+146G>A - IntronicSNV - 5/6 2
12-10601943-T-C c.382A>G p.Asn128Asp Missense 5/7 - 1
12-10601981-T-G c.344A>C p.His115Pro Missense 5/7 - 1
12-10602077-C-A c.338-90G>T - IntronicSNV - 4/6 2
12-10602077-C-T c.338-90G>A - IntronicSNV - 4/6 2
12-10602517-C-A c.333G>T p.Gln111His Missense 4/7 - 1
12-10602517-C-G c.333G>C p.Gln111His Missense 4/7 - 1
12-10602925-T-C c.283+158A>G - IntronicSNV - 3/6 2
12-10603090-AAC-ATG c.274_275delinsCA p.Val92His Missense 3/7 - 1
12-10603127-C-G c.239G>C p.Cys80Ser Missense 3/7 - 1
12-10603128-A-T c.238T>A p.Cys80Ser Missense 3/7 - 1
12-10603577-TG-GC c.178_179delinsGC p.His60Ala Missense 2/7 - 8
12-10603578-G-A c.178C>T p.His60Tyr Missense 2/7 - 1
12-10603597-T-A c.159A>T p.Gln53His Missense 2/7 - 1
12-10603597-T-G c.159A>C p.Gln53His Missense 2/7 - 1
12-10603634-GC-CT c.121_122delinsAG p.Ala41Arg Missense 2/7 - 1
12-10603644-T-C c.112A>G p.Ile38Val Missense 2/7 - 1
12-10604945-T-A c.-32+852A>T - intron_variant - 1/6 2
12-10604945-T-C c.-32+852A>G - intron_variant - 1/6 2
12-10605571-A-T c.-32+226T>A - intron_variant - 1/6 1