Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.67164468C>TCA150618CSPP1c.2854C>T (p.Arg952Ter)
c.660C>T
c.2878C>T (p.Arg960Ter)
c.2512C>T (p.Arg838Ter)
c.2593C>T (p.Arg865Ter)
c.2707C>T (p.Arg903Ter)
n.4117C>T
c.2746C>T (p.Arg916Ter)
c.2773C>T (p.Arg925Ter)
c.2521C>T (p.Arg841Ter)
c.2089C>T (p.Arg697Ter)
c.2896C>T (p.Arg966Ter)
c.1091C>T
c.2767C>T (p.Arg923Ter)
c.*749C>T (n.*749C>T)
c.2674C>T (p.Arg892Ter)
n.2286C>T
c.*2507C>T (n.*2507C>T)
c.*380C>T (n.*380C>T)
c.*804C>T (n.*804C>T)
c.2755C>T (p.Arg919Ter)
c.2134C>T (p.Arg712Ter)
n.751C>T
c.*1159C>T (n.*1159C>T)
c.2096C>T (n.2096C>T)
c.785C>T
c.1639C>T (p.Arg547Ter)
n.2428C>T
c.2323C>T (p.Arg775Ter)
c.2788C>T (p.Arg930Ter)
n.1283C>T
c.2665C>T (p.Arg889Ter)
c.2215C>T (p.Arg739Ter)
c.*2687C>T (n.*2687C>T)
n.1712C>T
n.1759C>T
c.1738C>T (p.Arg580Ter)
n.778C>T
c.3016C>T (p.Arg1006Ter)
c.2863C>T (p.Arg955Ter)
c.2485C>T (p.Arg829Ter)
c.3058C>T (p.Arg1020Ter)
c.3034C>T (p.Arg1012Ter)
c.2992C>T (p.Arg998Ter)
c.2953C>T (p.Arg985Ter)
c.2911C>T (p.Arg971Ter)
c.2812C>T (p.Arg938Ter)
c.1933C>T (p.Arg645Ter)
c.1453C>T (p.Arg485Ter)
c.1093C>T (p.Arg365Ter)
c.2917C>T (p.Arg973Ter)
c.2893C>T (p.Arg965Ter)
c.2659C>T (p.Arg887Ter)
c.2461C>T (p.Arg821Ter)
c.2227C>T (p.Arg743Ter)
c.1300C>T (p.Arg434Ter)
c.1891C>T (p.Arg631Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.67164468C>GCA4770945CSPP1c.2854C>G (p.Arg952Gly)
c.660C>G
c.2878C>G (p.Arg960Gly)
c.2512C>G (p.Arg838Gly)
c.2593C>G (p.Arg865Gly)
c.2707C>G (p.Arg903Gly)
n.4117C>G
c.2746C>G (p.Arg916Gly)
c.2773C>G (p.Arg925Gly)
c.2521C>G (p.Arg841Gly)
c.2089C>G (p.Arg697Gly)
c.2896C>G (p.Arg966Gly)
c.1091C>G
c.2767C>G (p.Arg923Gly)
c.*749C>G (n.*749C>G)
c.2674C>G (p.Arg892Gly)
n.2286C>G
c.*2507C>G (n.*2507C>G)
c.*380C>G (n.*380C>G)
c.*804C>G (n.*804C>G)
c.2755C>G (p.Arg919Gly)
c.2134C>G (p.Arg712Gly)
n.751C>G
c.*1159C>G (n.*1159C>G)
c.2096C>G (n.2096C>G)
c.785C>G
c.1639C>G (p.Arg547Gly)
n.2428C>G
c.2323C>G (p.Arg775Gly)
c.2788C>G (p.Arg930Gly)
n.1283C>G
c.2665C>G (p.Arg889Gly)
c.2215C>G (p.Arg739Gly)
c.*2687C>G (n.*2687C>G)
n.1712C>G
n.1759C>G
c.1738C>G (p.Arg580Gly)
n.778C>G
c.3016C>G (p.Arg1006Gly)
c.2863C>G (p.Arg955Gly)
c.2485C>G (p.Arg829Gly)
c.3058C>G (p.Arg1020Gly)
c.3034C>G (p.Arg1012Gly)
c.2992C>G (p.Arg998Gly)
c.2953C>G (p.Arg985Gly)
c.2911C>G (p.Arg971Gly)
c.2812C>G (p.Arg938Gly)
c.1933C>G (p.Arg645Gly)
c.1453C>G (p.Arg485Gly)
c.1093C>G (p.Arg365Gly)
c.2917C>G (p.Arg973Gly)
c.2893C>G (p.Arg965Gly)
c.2659C>G (p.Arg887Gly)
c.2461C>G (p.Arg821Gly)
c.2227C>G (p.Arg743Gly)
c.1300C>G (p.Arg434Gly)
c.1891C>G (p.Arg631Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched