Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169552651T>ACA343128605F5c.1202A>T (p.Asp401Val)
c.791A>T (p.Asp264Val)
1g.169552651T>CCA343128607F5c.1202A>G (p.Asp401Gly)
c.791A>G (p.Asp264Gly)
 gnomAD v4
1g.169552651T>GCA343128608F5c.1202A>C (p.Asp401Ala)
c.791A>C (p.Asp264Ala)
1g.169552652C>ACA343128610F5c.1201G>T (p.Asp401Tyr)
c.790G>T (p.Asp264Tyr)
1g.169552652C>GCA343128613F5c.1201G>C (p.Asp401His)
c.790G>C (p.Asp264His)
 gnomAD v4
1g.169552652C>TCA343128615F5c.1201G>A (p.Asp401Asn)
c.790G>A (p.Asp264Asn)
1g.169552653T>ACA343128620F5c.1200A>T (p.Glu400Asp)
c.789A>T (p.Glu263Asp)
1g.169552653T>CCA421732546F5c.1200A>G (p.Glu400=)
c.789A>G (p.Glu263=)
1g.169552653T>GCA343128619F5c.1200A>C (p.Glu400Asp)
c.789A>C (p.Glu263Asp)
1g.169552654T>ACA1234391F5c.1199A>T (p.Glu400Val)
c.788A>T (p.Glu263Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552654T>CCA343128628F5c.1199A>G (p.Glu400Gly)
c.788A>G (p.Glu263Gly)
1g.169552654T>GCA343128630F5c.1199A>C (p.Glu400Ala)
c.788A>C (p.Glu263Ala)
1g.169552654T=CA1206146864F5c.1199A= (p.Glu400=)
c.788A= (p.Glu263=)
1g.169552655C>ACA343128634F5c.1198G>T (p.Glu400Ter)
c.787G>T (p.Glu263Ter)
1g.169552655C=CA1206146874F5c.1198G= (p.Glu400=)
c.787G= (p.Glu263=)
1g.169552655C>GCA343128636F5c.1198G>C (p.Glu400Gln)
c.787G>C (p.Glu263Gln)
1g.169552655C>TCA1234393F5c.1198G>A (p.Glu400Lys)
c.787G>A (p.Glu263Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.169552655_169552664delinsCGTACTGTGTCA1206146871F5c.1189_1198delinsACACAGTACG (p.Thr397=)
c.778_787delinsACACAGTACG (p.Thr260=)
1g.169552656G>ACA421732547F5c.1197C>T (p.Tyr399=)
c.786C>T (p.Tyr262=)
 ClinVar dbSNP gnomAD v4
1g.169552656G>CCA343128643F5c.1197C>G (p.Tyr399Ter)
c.786C>G (p.Tyr262Ter)
1g.169552656G=CA1206146884F5c.1197C= (p.Tyr399=)
c.786C= (p.Tyr262=)
1g.169552656G>TCA343128656F5c.1197C>A (p.Tyr399Ter)
c.786C>A (p.Tyr262Ter)
1g.169552660_169552668delCA1234392F5c.1189_1197del (p.Thr397_Tyr399del)
c.778_786del (p.Thr260_Tyr262del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552657T>ACA343128661F5c.1196A>T (p.Tyr399Phe)
c.785A>T (p.Tyr262Phe)
1g.169552657T>CCA343128663F5c.1196A>G (p.Tyr399Cys)
c.785A>G (p.Tyr262Cys)
1g.169552657T>GCA343128666F5c.1196A>C (p.Tyr399Ser)
c.785A>C (p.Tyr262Ser)
1g.169552658A=CA1206146892F5c.1195T= (p.Tyr399=)
c.784T= (p.Tyr262=)
1g.169552658A>CCA343128668F5c.1195T>G (p.Tyr399Asp)
c.784T>G (p.Tyr262Asp)
1g.169552658A>GCA1234394F5c.1195T>C (p.Tyr399His)
c.784T>C (p.Tyr262His)
 dbSNP ExAC gnomAD v2
1g.169552658A>TCA343128673F5c.1195T>A (p.Tyr399Asn)
c.784T>A (p.Tyr262Asn)
 dbSNP
1g.169552659C>ACA343128674F5c.1194G>T (p.Gln398His)
c.783G>T (p.Gln261His)
1g.169552659C=CA1206146895F5c.1194G= (p.Gln398=)
c.783G= (p.Gln261=)
1g.169552659C>GCA343128677F5c.1194G>C (p.Gln398His)
c.783G>C (p.Gln261His)
1g.169552659C>TCA421732548F5c.1194G>A (p.Gln398=)
c.783G>A (p.Gln261=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169552660T>ACA343128681F5c.1193A>T (p.Gln398Leu)
c.782A>T (p.Gln261Leu)
1g.169552660T>CCA343128682F5c.1193A>G (p.Gln398Arg)
c.782A>G (p.Gln261Arg)
1g.169552660T>GCA343128683F5c.1193A>C (p.Gln398Pro)
c.782A>C (p.Gln261Pro)
 gnomAD v4
1g.169552661G>ACA343128684F5c.1192C>T (p.Gln398Ter)
c.781C>T (p.Gln261Ter)
 gnomAD v4
1g.169552661G>CCA343128688F5c.1192C>G (p.Gln398Glu)
c.781C>G (p.Gln261Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.169552661G=CA1206146897F5c.1192C= (p.Gln398=)
c.781C= (p.Gln261=)
1g.169552661G>TCA343128686F5c.1192C>A (p.Gln398Lys)
c.781C>A (p.Gln261Lys)
1g.169552662T>ACA421732549F5c.1191A>T (p.Thr397=)
c.780A>T (p.Thr260=)
1g.169552662T>CCA421732550F5c.1191A>G (p.Thr397=)
c.780A>G (p.Thr260=)
 gnomAD v4
1g.169552662T>GCA421732551F5c.1191A>C (p.Thr397=)
c.780A>C (p.Thr260=)
 gnomAD v4
1g.169552663G>ACA343128696F5c.1190C>T (p.Thr397Ile)
c.779C>T (p.Thr260Ile)
1g.169552663G>CCA343128698F5c.1190C>G (p.Thr397Arg)
c.779C>G (p.Thr260Arg)
1g.169552663G>TCA343128700F5c.1190C>A (p.Thr397Lys)
c.779C>A (p.Thr260Lys)
1g.169552664T>ACA343128704F5c.1189A>T (p.Thr397Ser)
c.778A>T (p.Thr260Ser)
1g.169552664T>CCA1234395F5c.1189A>G (p.Thr397Ala)
c.778A>G (p.Thr260Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552664T>GCA343128717F5c.1189A>C (p.Thr397Pro)
c.778A>C (p.Thr260Pro)
1g.169552664T=CA1206146899F5c.1189A= (p.Thr397=)
c.778A= (p.Thr260=)
1g.169552665G>ACA421732552F5c.1188C>T (p.Tyr396=)
c.777C>T (p.Tyr259=)
1g.169552665G>CCA343128720F5c.1188C>G (p.Tyr396Ter)
c.777C>G (p.Tyr259Ter)
1g.169552665G>TCA343128721F5c.1188C>A (p.Tyr396Ter)
c.777C>A (p.Tyr259Ter)
1g.169552666T>ACA343128724F5c.1187A>T (p.Tyr396Phe)
c.776A>T (p.Tyr259Phe)
1g.169552666T>CCA343128727F5c.1187A>G (p.Tyr396Cys)
c.776A>G (p.Tyr259Cys)
 COSMIC
1g.169552666T>GCA343128729F5c.1187A>C (p.Tyr396Ser)
c.776A>C (p.Tyr259Ser)
1g.169552667A>CCA343128737F5c.1186T>G (p.Tyr396Asp)
c.775T>G (p.Tyr259Asp)
1g.169552667A>GCA343128733F5c.1186T>C (p.Tyr396His)
c.775T>C (p.Tyr259His)
1g.169552667A>TCA343128732F5c.1186T>A (p.Tyr396Asn)
c.775T>A (p.Tyr259Asn)
1g.169552668C>ACA343128740F5c.1185G>T (p.Met395Ile)
c.774G>T (p.Met258Ile)
1g.169552668C>GCA343128742F5c.1185G>C (p.Met395Ile)
c.774G>C (p.Met258Ile)
1g.169552668C>TCA343128743F5c.1185G>A (p.Met395Ile)
c.774G>A (p.Met258Ile)
1g.169552669A>CCA343128748F5c.1184T>G (p.Met395Arg)
c.773T>G (p.Met258Arg)
1g.169552669A>GCA343128751F5c.1184T>C (p.Met395Thr)
c.773T>C (p.Met258Thr)
1g.169552669A>TCA343128753F5c.1184T>A (p.Met395Lys)
c.773T>A (p.Met258Lys)
1g.169552670T>ACA343128756F5c.1183A>T (p.Met395Leu)
c.772A>T (p.Met258Leu)
1g.169552670T>CCA343128764F5c.1183A>G (p.Met395Val)
c.772A>G (p.Met258Val)
1g.169552670T>GCA343128766F5c.1183A>C (p.Met395Leu)
c.772A>C (p.Met258Leu)
1g.169552671A>CCA421732553F5c.1182T>G (p.Val394=)
c.771T>G (p.Val257=)
1g.169552671A>GCA421732554F5c.1182T>C (p.Val394=)
c.771T>C (p.Val257=)
 gnomAD v4
1g.169552671A>TCA421732555F5c.1182T>A (p.Val394=)
c.771T>A (p.Val257=)
1g.169552672A=CA1141894938F5c.1181T= (p.Val394=)
c.770T= (p.Val257=)
1g.169552672A>CCA343128770F5c.1181T>G (p.Val394Gly)
c.770T>G (p.Val257Gly)
1g.169552672A>GCA1234396F5c.1181T>C (p.Val394Ala)
c.770T>C (p.Val257Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552672A>TCA343128777F5c.1181T>A (p.Val394Asp)
c.770T>A (p.Val257Asp)
1g.169552673C>ACA343128790F5c.1180G>T (p.Val394Phe)
c.769G>T (p.Val257Phe)
1g.169552673C>GCA343128792F5c.1180G>C (p.Val394Leu)
c.769G>C (p.Val257Leu)
1g.169552673C>TCA343128782F5c.1180G>A (p.Val394Ile)
c.769G>A (p.Val257Ile)
1g.169552674T>ACA343128795F5c.1179A>T (p.Lys393Asn)
c.768A>T (p.Lys256Asn)
1g.169552674T>CCA421732556F5c.1179A>G (p.Lys393=)
c.768A>G (p.Lys256=)
1g.169552674T>GCA343128800F5c.1179A>C (p.Lys393Asn)
c.768A>C (p.Lys256Asn)
1g.169552675T>ACA343128803F5c.1178A>T (p.Lys393Ile)
c.767A>T (p.Lys256Ile)
1g.169552675T>CCA343128819F5c.1178A>G (p.Lys393Arg)
c.767A>G (p.Lys256Arg)
1g.169552675T>GCA343128824F5c.1178A>C (p.Lys393Thr)
c.767A>C (p.Lys256Thr)
1g.169552676T>ACA343128837F5c.1177A>T (p.Lys393Ter)
c.766A>T (p.Lys256Ter)
1g.169552676T>CCA343128831F5c.1177A>G (p.Lys393Glu)
c.766A>G (p.Lys256Glu)
1g.169552676T>GCA343128835F5c.1177A>C (p.Lys393Gln)
c.766A>C (p.Lys256Gln)
1g.169552677C>ACA343128841F5c.1176G>T (p.Lys392Asn)
c.765G>T (p.Lys255Asn)
1g.169552677C>GCA343128845F5c.1176G>C (p.Lys392Asn)
c.765G>C (p.Lys255Asn)
 COSMIC
1g.169552677C>TCA421732557F5c.1176G>A (p.Lys392=)
c.765G>A (p.Lys255=)
1g.169552678T>ACA343128848F5c.1175A>T (p.Lys392Met)
c.764A>T (p.Lys255Met)
1g.169552678T>CCA1234397F5c.1175A>G (p.Lys392Arg)
c.764A>G (p.Lys255Arg)
 dbSNP ExAC gnomAD v2
1g.169552678T>GCA343128851F5c.1175A>C (p.Lys392Thr)
c.764A>C (p.Lys255Thr)
1g.169552678T=CA1143643189F5c.1175A= (p.Lys392=)
c.764A= (p.Lys255=)
1g.169552679T>ACA343128856F5c.1174A>T (p.Lys392Ter)
c.763A>T (p.Lys255Ter)
1g.169552679T>CCA343128852F5c.1174A>G (p.Lys392Glu)
c.763A>G (p.Lys255Glu)
1g.169552679T>GCA343128854F5c.1174A>C (p.Lys392Gln)
c.763A>C (p.Lys255Gln)
1g.169552680A>CCA343128859F5c.1173T>G (p.Tyr391Ter)
c.762T>G (p.Tyr254Ter)
1g.169552680A>GCA421732558F5c.1173T>C (p.Tyr391=)
c.762T>C (p.Tyr254=)
1g.169552680A>TCA343128862F5c.1173T>A (p.Tyr391Ter)
c.762T>A (p.Tyr254Ter)
1g.169552681T>ACA343128863F5c.1172A>T (p.Tyr391Phe)
c.761A>T (p.Tyr254Phe)
1g.169552681T>CCA1234398F5c.1172A>G (p.Tyr391Cys)
c.761A>G (p.Tyr254Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552681T>GCA343128864F5c.1172A>C (p.Tyr391Ser)
c.761A>C (p.Tyr254Ser)
1g.169552681T=CA1206146906F5c.1172A= (p.Tyr391=)
c.761A= (p.Tyr254=)
1g.169552682A>CCA343128865F5c.1171T>G (p.Tyr391Asp)
c.760T>G (p.Tyr254Asp)
1g.169552682A>GCA343128866F5c.1171T>C (p.Tyr391His)
c.760T>C (p.Tyr254His)
1g.169552682A>TCA343128867F5c.1171T>A (p.Tyr391Asn)
c.760T>A (p.Tyr254Asn)
1g.169552683A=CA1206146908F5c.1170T= (p.His390=)
c.759T= (p.His253=)
1g.169552683A>CCA343128873F5c.1170T>G (p.His390Gln)
c.759T>G (p.His253Gln)
1g.169552683A>GCA421732561F5c.1170T>C (p.His390=)
c.759T>C (p.His253=)
 dbSNP gnomAD v3 gnomAD v4
1g.169552683A>TCA343128875F5c.1170T>A (p.His390Gln)
c.759T>A (p.His253Gln)
1g.169552684T>ACA343128879F5c.1169A>T (p.His390Leu)
c.758A>T (p.His253Leu)
1g.169552684T>CCA343128882F5c.1169A>G (p.His390Arg)
c.758A>G (p.His253Arg)
 gnomAD v4
1g.169552684T>GCA343128885F5c.1169A>C (p.His390Pro)
c.758A>C (p.His253Pro)
1g.169552685G>ACA343128890F5c.1168C>T (p.His390Tyr)
c.757C>T (p.His253Tyr)
1g.169552685G>CCA343128894F5c.1168C>G (p.His390Asp)
c.757C>G (p.His253Asp)
 gnomAD v4
1g.169552685G>TCA343128892F5c.1168C>A (p.His390Asn)
c.757C>A (p.His253Asn)
 COSMIC
1g.169552686T>ACA343128896F5c.1167A>T (p.Lys389Asn)
c.756A>T (p.Lys252Asn)
1g.169552686T>CCA421732564F5c.1167A>G (p.Lys389=)
c.756A>G (p.Lys252=)
1g.169552686T>GCA343128898F5c.1167A>C (p.Lys389Asn)
c.756A>C (p.Lys252Asn)
1g.169552687T>ACA343128911F5c.1166A>T (p.Lys389Ile)
c.755A>T (p.Lys252Ile)
1g.169552687T>CCA343128913F5c.1166A>G (p.Lys389Arg)
c.755A>G (p.Lys252Arg)
1g.169552687T>GCA343128918F5c.1166A>C (p.Lys389Thr)
c.755A>C (p.Lys252Thr)
1g.169552688T>ACA343128923F5c.1165A>T (p.Lys389Ter)
c.754A>T (p.Lys252Ter)
1g.169552688T>CCA343128929F5c.1165A>G (p.Lys389Glu)
c.754A>G (p.Lys252Glu)
1g.169552688T>GCA343128932F5c.1165A>C (p.Lys389Gln)
c.754A>C (p.Lys252Gln)
1g.169552689T>ACA421732565F5c.1164A>T (p.Gly388=)
c.753A>T (p.Gly251=)
1g.169552689T>CCA421732566F5c.1164A>G (p.Gly388=)
c.753A>G (p.Gly251=)
1g.169552689T>GCA32388720F5c.1164A>C (p.Gly388=)
c.753A>C (p.Gly251=)
 dbSNP gnomAD v4
1g.169552689T=CA1206146913F5c.1164A= (p.Gly388=)
c.753A= (p.Gly251=)
1g.169552689_169552690delinsTCCA1206146911F5c.1163_1164delinsGA (p.Gly388=)
c.752_753delinsGA (p.Gly251=)
1g.169552690C>ACA343128937F5c.1163G>T (p.Gly388Val)
c.752G>T (p.Gly251Val)
1g.169552690C>GCA343128939F5c.1163G>C (p.Gly388Ala)
c.752G>C (p.Gly251Ala)
1g.169552690C>TCA343128943F5c.1163G>A (p.Gly388Glu)
c.752G>A (p.Gly251Glu)
1g.169552691delCA1234399F5c.1163del (p.Gly388GlufsTer22)
c.752del (p.Gly251GlufsTer22)
 dbSNP ExAC gnomAD v2
1g.169552691C>ACA343128975F5c.1162G>T (p.Gly388Ter)
c.751G>T (p.Gly251Ter)
1g.169552691C>GCA343128961F5c.1162G>C (p.Gly388Arg)
c.751G>C (p.Gly251Arg)
1g.169552691C>TCA343128971F5c.1162G>A (p.Gly388Arg)
c.751G>A (p.Gly251Arg)
1g.169552692A=CA1148239639F5c.1161T= (p.Ile387=)
c.750T= (p.Ile250=)
1g.169552692A>CCA343128982F5c.1161T>G (p.Ile387Met)
c.750T>G (p.Ile250Met)
1g.169552692A>GCA421732567F5c.1161T>C (p.Ile387=)
c.750T>C (p.Ile250=)
1g.169552692A>TCA1234400F5c.1161T>A (p.Ile387=)
c.750T>A (p.Ile250=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552693A=CA1141580512F5c.1160T= (p.Ile387=)
c.749T= (p.Ile250=)
1g.169552693A>CCA343128987F5c.1160T>G (p.Ile387Ser)
c.749T>G (p.Ile250Ser)
1g.169552693A>GCA251561F5c.1160T>C (p.Ile387Thr)
c.749T>C (p.Ile250Thr)
 ClinVar dbSNP gnomAD v4
1g.169552693A>TCA343128989F5c.1160T>A (p.Ile387Asn)
c.749T>A (p.Ile250Asn)
1g.169552694T>ACA343128991F5c.1159A>T (p.Ile387Phe)
c.748A>T (p.Ile250Phe)
1g.169552694T>CCA343128995F5c.1159A>G (p.Ile387Val)
c.748A>G (p.Ile250Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169552694T>GCA343128998F5c.1159A>C (p.Ile387Leu)
c.748A>C (p.Ile250Leu)
1g.169552694T=CA1206146927F5c.1159A= (p.Ile387=)
c.748A= (p.Ile250=)
1g.169552695T>ACA343129002F5c.1158A>T (p.Gln386His)
c.747A>T (p.Gln249His)
1g.169552695T>CCA1234401F5c.1158A>G (p.Gln386=)
c.747A>G (p.Gln249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552695T>GCA343129021F5c.1158A>C (p.Gln386His)
c.747A>C (p.Gln249His)
 gnomAD v4
1g.169552695T=CA1142252155F5c.1158A= (p.Gln386=)
c.747A= (p.Gln249=)
1g.169552696T>ACA343129028F5c.1157A>T (p.Gln386Leu)
c.746A>T (p.Gln249Leu)
1g.169552696T>CCA343129027F5c.1157A>G (p.Gln386Arg)
c.746A>G (p.Gln249Arg)
1g.169552696T>GCA343129026F5c.1157A>C (p.Gln386Pro)
c.746A>C (p.Gln249Pro)
1g.169552697G>ACA343129030F5c.1156C>T (p.Gln386Ter)
c.745C>T (p.Gln249Ter)
1g.169552697G>CCA343129036F5c.1156C>G (p.Gln386Glu)
c.745C>G (p.Gln249Glu)
1g.169552697G>TCA343129031F5c.1156C>A (p.Gln386Lys)
c.745C>A (p.Gln249Lys)
 gnomAD v4
1g.169552698G>ACA421732568F5c.1155C>T (p.Asn385=)
c.744C>T (p.Asn248=)
1g.169552698G>CCA343129043F5c.1155C>G (p.Asn385Lys)
c.744C>G (p.Asn248Lys)
 gnomAD v4
1g.169552698G>TCA343129046F5c.1155C>A (p.Asn385Lys)
c.744C>A (p.Asn248Lys)
1g.169552699T>ACA343129049F5c.1154A>T (p.Asn385Ile)
c.743A>T (p.Asn248Ile)
1g.169552699T>CCA1234402F5c.1154A>G (p.Asn385Ser)
c.743A>G (p.Asn248Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552699T>GCA343129059F5c.1154A>C (p.Asn385Thr)
c.743A>C (p.Asn248Thr)
1g.169552699T=CA1143818117F5c.1154A= (p.Asn385=)
c.743A= (p.Asn248=)
1g.169552700T>ACA343129067F5c.1153A>T (p.Asn385Tyr)
c.742A>T (p.Asn248Tyr)
1g.169552700T>CCA343129078F5c.1153A>G (p.Asn385Asp)
c.742A>G (p.Asn248Asp)
 gnomAD v4
1g.169552700T>GCA343129082F5c.1153A>C (p.Asn385His)
c.742A>C (p.Asn248His)
1g.169552701T>ACA421732569F5c.1152A>T (p.Ser384=)
c.741A>T (p.Ser247=)
1g.169552701T>CCA421732570F5c.1152A>G (p.Ser384=)
c.741A>G (p.Ser247=)
1g.169552701T>GCA421732571F5c.1152A>C (p.Ser384=)
c.741A>C (p.Ser247=)
 gnomAD v4
1g.169552702G>ACA343129088F5c.1151C>T (p.Ser384Leu)
c.740C>T (p.Ser247Leu)
 gnomAD v4
1g.169552702G>CCA343129098F5c.1151C>G (p.Ser384Ter)
c.740C>G (p.Ser247Ter)
 dbSNP gnomAD v4
1g.169552702G=CA1206146939F5c.1151C= (p.Ser384=)
c.740C= (p.Ser247=)
1g.169552702G>TCA343129100F5c.1151C>A (p.Ser384Ter)
c.740C>A (p.Ser247Ter)
1g.169552703A>CCA343129108F5c.1150T>G (p.Ser384Ala)
c.739T>G (p.Ser247Ala)
1g.169552703A>GCA343129111F5c.1150T>C (p.Ser384Pro)
c.739T>C (p.Ser247Pro)
 gnomAD v4
1g.169552703A>TCA343129114F5c.1150T>A (p.Ser384Thr)
c.739T>A (p.Ser247Thr)
1g.169552704G>ACA421732572F5c.1149C>T (p.Phe383=)
c.738C>T (p.Phe246=)
 dbSNP gnomAD v4
1g.169552704G>CCA343129120F5c.1149C>G (p.Phe383Leu)
c.738C>G (p.Phe246Leu)
1g.169552704G=CA1206146943F5c.1149C= (p.Phe383=)
c.738C= (p.Phe246=)
1g.169552704G>TCA343129117F5c.1149C>A (p.Phe383Leu)
c.738C>A (p.Phe246Leu)
1g.169552705A=CA1206146945F5c.1148T= (p.Phe383=)
c.737T= (p.Phe246=)
1g.169552705A>CCA343129125F5c.1148T>G (p.Phe383Cys)
c.737T>G (p.Phe246Cys)
1g.169552705A>GCA343129126F5c.1148T>C (p.Phe383Ser)
c.737T>C (p.Phe246Ser)
 dbSNP
1g.169552705A>TCA343129127F5c.1148T>A (p.Phe383Tyr)
c.737T>A (p.Phe246Tyr)
1g.169552706A=CA1206146947F5c.1147T= (p.Phe383=)
c.736T= (p.Phe246=)
1g.169552706A>CCA343129128F5c.1147T>G (p.Phe383Val)
c.736T>G (p.Phe246Val)
1g.169552706A>GCA32388728F5c.1147T>C (p.Phe383Leu)
c.736T>C (p.Phe246Leu)
 dbSNP
1g.169552706A>TCA343129134F5c.1147T>A (p.Phe383Ile)
c.736T>A (p.Phe246Ile)
1g.169552707A>CCA343129139F5c.1146T>G (p.Asn382Lys)
c.735T>G (p.Asn245Lys)
1g.169552707A>GCA421732573F5c.1146T>C (p.Asn382=)
c.735T>C (p.Asn245=)
 gnomAD v4
1g.169552707A>TCA343129142F5c.1146T>A (p.Asn382Lys)
c.735T>A (p.Asn245Lys)
1g.169552708T>ACA343129146F5c.1145A>T (p.Asn382Ile)
c.734A>T (p.Asn245Ile)
1g.169552708T>CCA343129150F5c.1145A>G (p.Asn382Ser)
c.734A>G (p.Asn245Ser)
1g.169552708T>GCA343129152F5c.1145A>C (p.Asn382Thr)
c.734A>C (p.Asn245Thr)
1g.169552709T>ACA343129168F5c.1144A>T (p.Asn382Tyr)
c.733A>T (p.Asn245Tyr)
1g.169552709T>CCA343129162F5c.1144A>G (p.Asn382Asp)
c.733A>G (p.Asn245Asp)
1g.169552709T>GCA343129157F5c.1144A>C (p.Asn382His)
c.733A>C (p.Asn245His)
1g.169552710A=CA1148348567F5c.1143T= (p.Asp381=)
c.732T= (p.Asp244=)
1g.169552710A>CCA343129175F5c.1143T>G (p.Asp381Glu)
c.732T>G (p.Asp244Glu)
1g.169552710A>GCA421732574F5c.1143T>C (p.Asp381=)
c.732T>C (p.Asp244=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169552710A>TCA1234403F5c.1143T>A (p.Asp381Glu)
c.732T>A (p.Asp244Glu)
 dbSNP ExAC gnomAD v2
1g.169552711T>ACA343129184F5c.1142A>T (p.Asp381Val)
c.731A>T (p.Asp244Val)
1g.169552711T>CCA343129187F5c.1142A>G (p.Asp381Gly)
c.731A>G (p.Asp244Gly)
1g.169552711T>GCA343129189F5c.1142A>C (p.Asp381Ala)
c.731A>C (p.Asp244Ala)
1g.169552712C>ACA343129190F5c.1141G>T (p.Asp381Tyr)
c.730G>T (p.Asp244Tyr)
1g.169552712C=CA1206146953F5c.1141G= (p.Asp381=)
c.730G= (p.Asp244=)
1g.169552712C>GCA343129192F5c.1141G>C (p.Asp381His)
c.730G>C (p.Asp244His)
 dbSNP gnomAD v3 gnomAD v4
1g.169552712C>TCA343129196F5c.1141G>A (p.Asp381Asn)
c.730G>A (p.Asp244Asn)
 dbSNP
1g.169552713C>ACA343129200F5c.1140G>T (p.Leu380Phe)
c.729G>T (p.Leu243Phe)
1g.169552713C=CA1206146957F5c.1140G= (p.Leu380=)
c.729G= (p.Leu243=)
1g.169552713C>GCA1234404F5c.1140G>C (p.Leu380Phe)
c.729G>C (p.Leu243Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552713C>TCA32388732F5c.1140G>A (p.Leu380=)
c.729G>A (p.Leu243=)
 dbSNP
1g.169552714A>CCA343129211F5c.1139T>G (p.Leu380Trp)
c.728T>G (p.Leu243Trp)
 gnomAD v4
1g.169552714A>GCA343129205F5c.1139T>C (p.Leu380Ser)
c.728T>C (p.Leu243Ser)
1g.169552714A>TCA343129203F5c.1139T>A (p.Leu380Ter)
c.728T>A (p.Leu243Ter)
1g.169552715A>CCA343129214F5c.1138T>G (p.Leu380Val)
c.727T>G (p.Leu243Val)
1g.169552715A>GCA421732575F5c.1138T>C (p.Leu380=)
c.727T>C (p.Leu243=)
 gnomAD v4
1g.169552715A>TCA343129217F5c.1138T>A (p.Leu380Met)
c.727T>A (p.Leu243Met)
1g.169552716A=CA1206146962F5c.1137T= (p.His379=)
c.726T= (p.His242=)
1g.169552716A>CCA343129225F5c.1137T>G (p.His379Gln)
c.726T>G (p.His242Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.169552716A>GCA1234405F5c.1137T>C (p.His379=)
c.726T>C (p.His242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552716A>TCA343129238F5c.1137T>A (p.His379Gln)
c.726T>A (p.His242Gln)
1g.169552717T>ACA343129243F5c.1136A>T (p.His379Leu)
c.725A>T (p.His242Leu)
1g.169552717T>CCA343129255F5c.1136A>G (p.His379Arg)
c.725A>G (p.His242Arg)
1g.169552717T>GCA343129262F5c.1136A>C (p.His379Pro)
c.725A>C (p.His242Pro)
1g.169552718G>ACA343129268F5c.1135C>T (p.His379Tyr)
c.724C>T (p.His242Tyr)
1g.169552718G>CCA343129282F5c.1135C>G (p.His379Asp)
c.724C>G (p.His242Asp)
1g.169552718G>TCA343129289F5c.1135C>A (p.His379Asn)
c.724C>A (p.His242Asn)
1g.169552719C>ACA343129293F5c.1134G>T (p.Gln378His)
c.723G>T (p.Gln241His)
1g.169552719C>GCA343129298F5c.1134G>C (p.Gln378His)
c.723G>C (p.Gln241His)
1g.169552719C>TCA421732576F5c.1134G>A (p.Gln378=)
c.723G>A (p.Gln241=)
1g.169552720T>ACA343129306F5c.1133A>T (p.Gln378Leu)
c.722A>T (p.Gln241Leu)
1g.169552720T>CCA343129317F5c.1133A>G (p.Gln378Arg)
c.722A>G (p.Gln241Arg)
1g.169552720T>GCA343129300F5c.1133A>C (p.Gln378Pro)
c.722A>C (p.Gln241Pro)
1g.169552721G>ACA343129324F5c.1132C>T (p.Gln378Ter)
c.721C>T (p.Gln241Ter)
 gnomAD v4
1g.169552721G>CCA1234406F5c.1132C>G (p.Gln378Glu)
c.721C>G (p.Gln241Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552721G=CA1206146965F5c.1132C= (p.Gln378=)
c.721C= (p.Gln241=)
1g.169552721G>TCA343129321F5c.1132C>A (p.Gln378Lys)
c.721C>A (p.Gln241Lys)
1g.169552722A>CCA421732577F5c.1131T>G (p.Ser377=)
c.720T>G (p.Ser240=)
1g.169552722A>GCA421732578F5c.1131T>C (p.Ser377=)
c.720T>C (p.Ser240=)
1g.169552722A>TCA421732579F5c.1131T>A (p.Ser377=)
c.720T>A (p.Ser240=)
1g.169552723G>ACA343129329F5c.1130C>T (p.Ser377Phe)
c.719C>T (p.Ser240Phe)
1g.169552723G>CCA343129336F5c.1130C>G (p.Ser377Cys)
c.719C>G (p.Ser240Cys)
1g.169552723G>TCA343129340F5c.1130C>A (p.Ser377Tyr)
c.719C>A (p.Ser240Tyr)
1g.169552724A>CCA343129354F5c.1129T>G (p.Ser377Ala)
c.718T>G (p.Ser240Ala)
1g.169552724A>GCA343129356F5c.1129T>C (p.Ser377Pro)
c.718T>C (p.Ser240Pro)
1g.169552724A>TCA343129358F5c.1129T>A (p.Ser377Thr)
c.718T>A (p.Ser240Thr)
1g.169552725C>ACA1234407F5c.1128G>T (p.Arg376Ser)
c.717G>T (p.Arg239Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552725C=CA1143910965F5c.1128G= (p.Arg376=)
c.717G= (p.Arg239=)
1g.169552725C>GCA343129367F5c.1128G>C (p.Arg376Ser)
c.717G>C (p.Arg239Ser)
1g.169552725C>TCA421732580F5c.1128G>A (p.Arg376=)
c.717G>A (p.Arg239=)
 COSMIC
1g.169552726C>ACA343129370F5c.1127G>T (p.Arg376Met)
c.716G>T (p.Arg239Met)
1g.169552726C>GCA343129378F5c.1127G>C (p.Arg376Thr)
c.716G>C (p.Arg239Thr)
1g.169552726C>TCA343129380F5c.1127G>A (p.Arg376Lys)
c.716G>A (p.Arg239Lys)
 COSMIC
1g.169552727T>ACA343129393F5c.1126A>T (p.Arg376Trp)
c.715A>T (p.Arg239Trp)
1g.169552727T>CCA343129386F5c.1126A>G (p.Arg376Gly)
c.715A>G (p.Arg239Gly)
1g.169552727T>GCA421732581F5c.1126A>C (p.Arg376=)
c.715A>C (p.Arg239=)
1g.169552728G>ACA421732582F5c.1125C>T (p.Tyr375=)
c.714C>T (p.Tyr238=)
1g.169552728G>CCA343129400F5c.1125C>G (p.Tyr375Ter)
c.714C>G (p.Tyr238Ter)
 dbSNP
1g.169552728G=CA1206146973F5c.1125C= (p.Tyr375=)
c.714C= (p.Tyr238=)
1g.169552728G>TCA343129404F5c.1125C>A (p.Tyr375Ter)
c.714C>A (p.Tyr238Ter)
1g.169552729T>ACA343129411F5c.1124A>T (p.Tyr375Phe)
c.713A>T (p.Tyr238Phe)
1g.169552729T>CCA1234408F5c.1124A>G (p.Tyr375Cys)
c.713A>G (p.Tyr238Cys)
 dbSNP ExAC gnomAD v2
1g.169552729T>GCA343129421F5c.1124A>C (p.Tyr375Ser)
c.713A>C (p.Tyr238Ser)
1g.169552729T=CA1206146976F5c.1124A= (p.Tyr375=)
c.713A= (p.Tyr238=)
1g.169552730A>CCA343129426F5c.1123T>G (p.Tyr375Asp)
c.712T>G (p.Tyr238Asp)
1g.169552730A>GCA343129428F5c.1123T>C (p.Tyr375His)
c.712T>C (p.Tyr238His)
1g.169552730A>TCA343129429F5c.1123T>A (p.Tyr375Asn)
c.712T>A (p.Tyr238Asn)
1g.169552731T>ACA343129430F5c.1122A>T (p.Lys374Asn)
c.711A>T (p.Lys237Asn)
1g.169552731T>CCA421732583F5c.1122A>G (p.Lys374=)
c.711A>G (p.Lys237=)
1g.169552731T>GCA343129431F5c.1122A>C (p.Lys374Asn)
c.711A>C (p.Lys237Asn)
1g.169552732T>ACA343129432F5c.1121A>T (p.Lys374Ile)
c.710A>T (p.Lys237Ile)
1g.169552732T>CCA343129437F5c.1121A>G (p.Lys374Arg)
c.710A>G (p.Lys237Arg)
1g.169552732T>GCA343129456F5c.1121A>C (p.Lys374Thr)
c.710A>C (p.Lys237Thr)
1g.169552733T>ACA343129476F5c.1120A>T (p.Lys374Ter)
c.709A>T (p.Lys237Ter)
1g.169552733T>CCA343129473F5c.1120A>G (p.Lys374Glu)
c.709A>G (p.Lys237Glu)
1g.169552733T>GCA343129464F5c.1120A>C (p.Lys374Gln)
c.709A>C (p.Lys237Gln)
1g.169552734T>ACA343129483F5c.1119A>T (p.Lys373Asn)
c.708A>T (p.Lys236Asn)
 gnomAD v4
1g.169552734T>CCA421732584F5c.1119A>G (p.Lys373=)
c.708A>G (p.Lys236=)
1g.169552734T>GCA343129488F5c.1119A>C (p.Lys373Asn)
c.708A>C (p.Lys236Asn)
1g.169552735C>ACA343129502F5c.1119-1G>T (n.1119-1G>T)
c.708-1G>T (n.708-1G>T)
1g.169552735C>GCA343129505F5c.1119-1G>C (n.1119-1G>C)
c.708-1G>C (n.708-1G>C)
 COSMIC
1g.169552735C>TCA343129508F5c.1119-1G>A (n.1119-1G>A)
c.708-1G>A (n.708-1G>A)
1g.169552736T>ACA343129510F5c.1119-2A>T (n.1119-2A>T)
c.708-2A>T (n.708-2A>T)
1g.169552736T>CCA343129512F5c.1119-2A>G (n.1119-2A>G)
c.708-2A>G (n.708-2A>G)
1g.169552736T>GCA343129513F5c.1119-2A>C (n.1119-2A>C)
c.708-2A>C (n.708-2A>C)
1g.169552737T>ACA1234409F5c.1119-3A>T (n.1119-3A>T)
c.708-3A>T (n.708-3A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552737T>CCA2568912502F5c.1119-3A>G (n.1119-3A>G)
c.708-3A>G (n.708-3A>G)
1g.169552737T=CA1206146979F5c.1119-3A= (n.1119-3A=)
c.708-3A= (n.708-3A=)
1g.169552738A=CA1206146981F5c.1119-4T= (n.1119-4T=)
c.708-4T= (n.708-4T=)
1g.169552738A>CCA527131297F5c.1119-4T>G (n.1119-4T>G)
c.708-4T>G (n.708-4T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.169552741G>ACA2499214294F5c.1119-7C>T (n.1119-7C>T)
c.708-7C>T (n.708-7C>T)
1g.169552742T=CA1206146983F5c.1119-8A= (n.1119-8A=)
c.708-8A= (n.708-8A=)
1g.169552742_169552743insACA1234410F5c.1119-9_1119-8insT (n.1119-9_1119-8insT)
c.708-9_708-8insT (n.708-9_708-8insT)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552743G>ACA1234411F5c.1119-9C>T (n.1119-9C>T)
c.708-9C>T (n.708-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552743G=CA1206146987F5c.1119-9C= (n.1119-9C=)
c.708-9C= (n.708-9C=)
1g.169552743G>TCA2739275394F5c.1119-9C>A (n.1119-9C>A)
c.708-9C>A (n.708-9C>A)
 ClinVar
1g.169552744A=CA1206146991F5c.1119-10T= (n.1119-10T=)
c.708-10T= (n.708-10T=)
1g.169552744A>CCA2649036150F5c.1119-10T>G (n.1119-10T>G)
c.708-10T>G (n.708-10T>G)
 gnomAD v4
1g.169552744A>TCA527131298F5c.1119-10T>A (n.1119-10T>A)
c.708-10T>A (n.708-10T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.169552745A=CA1206146992F5c.1119-11T= (n.1119-11T=)
c.708-11T= (n.708-11T=)
1g.169552745A>CCA527131299F5c.1119-11T>G (n.1119-11T>G)
c.708-11T>G (n.708-11T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.169552745A>GCA1206146994F5c.1119-11T>C (n.1119-11T>C)
c.708-11T>C (n.708-11T>C)
 ClinVar dbSNP gnomAD v4
1g.169552746G>ACA527131300F5c.1119-12C>T (n.1119-12C>T)
c.708-12C>T (n.708-12C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169552746G>CCA2573948617F5c.1119-12C>G (n.1119-12C>G)
c.708-12C>G (n.708-12C>G)
 gnomAD v4
1g.169552746G=CA1206146996F5c.1119-12C= (n.1119-12C=)
c.708-12C= (n.708-12C=)
1g.169552747T>ACA527131301F5c.1119-13A>T (n.1119-13A>T)
c.708-13A>T (n.708-13A>T)
 gnomAD v2
1g.169552747T>CCA2746577913F5c.1119-13A>G (n.1119-13A>G)
c.708-13A>G (n.708-13A>G)
1g.169552747dupCA1206146998F5c.1119-13dup (n.1119-13dup)
c.708-13dup (n.708-13dup)
 dbSNP gnomAD v4
1g.169552747_169552748delinsTACA1206147000F5c.1119-14_1119-13delinsTA (n.1119-14_1119-13delinsTA)
c.708-14_708-13delinsTA (n.708-14_708-13delinsTA)
1g.169552748A=CA1206147004F5c.1119-14T= (n.1119-14T=)
c.708-14T= (n.708-14T=)
1g.169552748A>TCA1206147006F5c.1119-14T>A (n.1119-14T>A)
c.708-14T>A (n.708-14T>A)
 dbSNP gnomAD v4
1g.169552756dupCA1234413F5c.1119-14dup (n.1119-14dup)
c.708-14dup (n.708-14dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552755_169552756dupCA2649036152F5c.1119-15_1119-14dup (n.1119-15_1119-14dup)
c.708-15_708-14dup (n.708-15_708-14dup)
 gnomAD v4
1g.169552756delCA1234412F5c.1119-14del (n.1119-14del)
c.708-14del (n.708-14del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552749A=CA1206147008F5c.1119-15T= (n.1119-15T=)
c.708-15T= (n.708-15T=)
1g.169552749_169552762delinsAAAAAAAATTAAACCA1206147010F5c.1119-28_1119-15delinsGTTTAATTTTTTTT (n.1119-28_1119-15delinsGTTTAATTTTTTTT)
c.708-28_708-15delinsGTTTAATTTTTTTT (n.708-28_708-15delinsGTTTAATTTTTTTT)
1g.169552749_169552750insCACCA527131302F5c.1119-16_1119-15insGTG (n.1119-16_1119-15insGTG)
c.708-16_708-15insGTG (n.708-16_708-15insGTG)
 dbSNP gnomAD v2
1g.169552750A=CA1206147017F5c.1119-16T= (n.1119-16T=)
c.708-16T= (n.708-16T=)
1g.169552750A>CCA1234415F5c.1119-16T>G (n.1119-16T>G)
c.708-16T>G (n.708-16T>G)
 dbSNP ExAC
1g.169552750A>GCA1206147020F5c.1119-16T>C (n.1119-16T>C)
c.708-16T>C (n.708-16T>C)
 dbSNP
1g.169552750_169552762delCA1234414F5c.1119-28_1119-16del (n.1119-28_1119-16del)
c.708-28_708-16del (n.708-28_708-16del)
 dbSNP ExAC
1g.169552751A>GCA2649036153F5c.1119-17T>C (n.1119-17T>C)
c.708-17T>C (n.708-17T>C)
 gnomAD v4

Number of alleles fetched