Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204155078G>ACA122844RENc.1159C>T (p.Arg387Ter)
c.1045C>T (p.Arg349Ter)
 ClinVar dbSNP gnomAD v4
1g.204155078G>CCA344332266RENc.1159C>G (p.Arg387Gly)
c.1045C>G (p.Arg349Gly)
1g.204155078G=CA1141581508RENc.1159C= (p.Arg387=)
c.1045C= (p.Arg349=)
1g.204155078G>TCA422833145RENc.1159C>A (p.Arg387=)
c.1045C>A (p.Arg349=)
1g.204155079G>ACA422833146RENc.1158C>T (p.Ile386=)
c.1044C>T (p.Ile348=)
1g.204155079G>CCA344332267RENc.1158C>G (p.Ile386Met)
c.1044C>G (p.Ile348Met)
1g.204155079G>TCA422833147RENc.1158C>A (p.Ile386=)
c.1044C>A (p.Ile348=)
1g.204155080A=CA2482055222RENc.1157T= (p.Ile386=)
c.1043T= (p.Ile348=)
1g.204155080A>CCA344332268RENc.1157T>G (p.Ile386Ser)
c.1043T>G (p.Ile348Ser)
1g.204155080A>GCA1344643RENc.1157T>C (p.Ile386Thr)
c.1043T>C (p.Ile348Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204155080A>TCA344332269RENc.1157T>A (p.Ile386Asn)
c.1043T>A (p.Ile348Asn)
1g.204155081T>ACA344332270RENc.1156A>T (p.Ile386Phe)
c.1042A>T (p.Ile348Phe)
1g.204155081T>CCA35732289RENc.1156A>G (p.Ile386Val)
c.1042A>G (p.Ile348Val)
 dbSNP
1g.204155081T>GCA344332271RENc.1156A>C (p.Ile386Leu)
c.1042A>C (p.Ile348Leu)
1g.204155081T=CA2482055224RENc.1156A= (p.Ile386=)
c.1042A= (p.Ile348=)
1g.204155082G>ACA422833151RENc.1155C>T (p.Phe385=)
c.1041C>T (p.Phe347=)
1g.204155082G>CCA344332272RENc.1155C>G (p.Phe385Leu)
c.1041C>G (p.Phe347Leu)
1g.204155082G>TCA344332273RENc.1155C>A (p.Phe385Leu)
c.1041C>A (p.Phe347Leu)
1g.204155083A>CCA344332274RENc.1154T>G (p.Phe385Cys)
c.1040T>G (p.Phe347Cys)
1g.204155083A>GCA344332275RENc.1154T>C (p.Phe385Ser)
c.1040T>C (p.Phe347Ser)
1g.204155083A>TCA344332276RENc.1154T>A (p.Phe385Tyr)
c.1040T>A (p.Phe347Tyr)
1g.204155084A>CCA344332277RENc.1153T>G (p.Phe385Val)
c.1039T>G (p.Phe347Val)
1g.204155084A>GCA344332278RENc.1153T>C (p.Phe385Leu)
c.1039T>C (p.Phe347Leu)
1g.204155084A>TCA344332279RENc.1153T>A (p.Phe385Ile)
c.1039T>A (p.Phe347Ile)
 COSMIC
1g.204155085G>ACA422833153RENc.1152C>T (p.Thr384=)
c.1038C>T (p.Thr346=)
1g.204155085G>CCA422833156RENc.1152C>G (p.Thr384=)
c.1038C>G (p.Thr346=)
1g.204155085G>TCA422833155RENc.1152C>A (p.Thr384=)
c.1038C>A (p.Thr346=)
1g.204155086G>ACA344332281RENc.1151C>T (p.Thr384Ile)
c.1037C>T (p.Thr346Ile)
1g.204155086G>CCA344332280RENc.1151C>G (p.Thr384Ser)
c.1037C>G (p.Thr346Ser)
1g.204155086G=CA2482055228RENc.1151C= (p.Thr384=)
c.1037C= (p.Thr346=)
1g.204155086G>TCA1344644RENc.1151C>A (p.Thr384Asn)
c.1037C>A (p.Thr346Asn)
 ClinVar dbSNP ExAC gnomAD v2
1g.204155087T>ACA344332282RENc.1150A>T (p.Thr384Ser)
c.1036A>T (p.Thr346Ser)
1g.204155087T>CCA1344645RENc.1150A>G (p.Thr384Ala)
c.1036A>G (p.Thr346Ala)
 dbSNP ExAC gnomAD v4
1g.204155087T>GCA344332283RENc.1150A>C (p.Thr384Pro)
c.1036A>C (p.Thr346Pro)
1g.204155087T=CA2482055234RENc.1150A= (p.Thr384=)
c.1036A= (p.Thr346=)
1g.204155088G>ACA422833160RENc.1149C>T (p.Ala383=)
c.1035C>T (p.Ala345=)
1g.204155088G>CCA422833161RENc.1149C>G (p.Ala383=)
c.1035C>G (p.Ala345=)
1g.204155088G>TCA422833163RENc.1149C>A (p.Ala383=)
c.1035C>A (p.Ala345=)
1g.204155089G>ACA344332284RENc.1148C>T (p.Ala383Val)
c.1034C>T (p.Ala345Val)
1g.204155089G>CCA344332285RENc.1148C>G (p.Ala383Gly)
c.1034C>G (p.Ala345Gly)
1g.204155089G>TCA344332286RENc.1148C>A (p.Ala383Asp)
c.1034C>A (p.Ala345Asp)
1g.204155090C>ACA344332287RENc.1147G>T (p.Ala383Ser)
c.1033G>T (p.Ala345Ser)
 dbSNP
1g.204155090C=CA2482055238RENc.1147G= (p.Ala383=)
c.1033G= (p.Ala345=)
1g.204155090C>GCA344332288RENc.1147G>C (p.Ala383Pro)
c.1033G>C (p.Ala345Pro)
1g.204155090C>TCA344332289RENc.1147G>A (p.Ala383Thr)
c.1033G>A (p.Ala345Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204155094dupCA2747425806RENc.1147dup (p.Ala383GlyfsTer12)
c.1033dup (p.Ala345GlyfsTer12)
1g.204155094delCA2650012259RENc.1147del (p.Ala383ProfsTer?)
c.1033del (p.Ala345ProfsTer?)
 gnomAD v4
1g.204155091C>ACA422833167RENc.1146G>T (p.Gly382=)
c.1032G>T (p.Gly344=)
1g.204155091C>GCA422833168RENc.1146G>C (p.Gly382=)
c.1032G>C (p.Gly344=)
1g.204155091C>TCA422833169RENc.1146G>A (p.Gly382=)
c.1032G>A (p.Gly344=)

Number of alleles fetched