Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186284109A>CCA358941566F11c.991A>C (p.Lys331Gln)
c.1153A>C (p.Lys385Gln)
c.1156A>C (p.Lys386Gln)
c.886A>C (p.Lys296Gln)
c.1108A>C (p.Lys370Gln)
c.*2125A>C (p.=)
c.*21A>C (p.=)
4g.186284109A>GCA358941567F11c.991A>G (p.Lys331Glu)
c.1153A>G (p.Lys385Glu)
c.1156A>G (p.Lys386Glu)
c.886A>G (p.Lys296Glu)
c.1108A>G (p.Lys370Glu)
c.*2125A>G (p.=)
c.*21A>G (p.=)
4g.186284109A>TCA358941569F11c.991A>T (p.Lys331Ter)
c.1153A>T (p.Lys385Ter)
c.1156A>T (p.Lys386Ter)
c.886A>T (p.Lys296Ter)
c.1108A>T (p.Lys370Ter)
c.*2125A>T (p.=)
c.*21A>T (p.=)
4g.186284110A>CCA358941575F11c.992A>C (p.Lys331Thr)
c.1154A>C (p.Lys385Thr)
c.1157A>C (p.Lys386Thr)
c.887A>C (p.Lys296Thr)
c.1109A>C (p.Lys370Thr)
c.*2126A>C (p.=)
c.*22A>C (p.=)
4g.186284110A>GCA358941577F11c.992A>G (p.Lys331Arg)
c.1154A>G (p.Lys385Arg)
c.1157A>G (p.Lys386Arg)
c.887A>G (p.Lys296Arg)
c.1109A>G (p.Lys370Arg)
c.*2126A>G (p.=)
c.*22A>G (p.=)
4g.186284110A>TCA358941573F11c.992A>T (p.Lys331Met)
c.1154A>T (p.Lys385Met)
c.1157A>T (p.Lys386Met)
c.887A>T (p.Lys296Met)
c.1109A>T (p.Lys370Met)
c.*2126A>T (p.=)
c.*22A>T (p.=)
4g.186284111G>ACA442638897F11c.993G>A (p.Lys331=)
c.1155G>A (p.Lys385=)
c.1158G>A (p.Lys386=)
c.888G>A (p.Lys296=)
c.1110G>A (p.Lys370=)
c.*2127G>A (p.=)
c.*23G>A (p.=)
4g.186284111G>CCA358941580F11c.993G>C (p.Lys331Asn)
c.1155G>C (p.Lys385Asn)
c.1158G>C (p.Lys386Asn)
c.888G>C (p.Lys296Asn)
c.1110G>C (p.Lys370Asn)
c.*2127G>C (p.=)
c.*23G>C (p.=)
4g.186284111G>TCA358941579F11c.993G>T (p.Lys331Asn)
c.1155G>T (p.Lys385Asn)
c.1158G>T (p.Lys386Asn)
c.888G>T (p.Lys296Asn)
c.1110G>T (p.Lys370Asn)
c.*2127G>T (p.=)
c.*23G>T (p.=)
4g.186284112C>ACA358941581F11c.994C>A (p.Pro332Thr)
c.1156C>A (p.Pro386Thr)
c.1159C>A (p.Pro387Thr)
c.889C>A (p.Pro297Thr)
c.1111C>A (p.Pro371Thr)
c.*2128C>A (p.=)
c.*24C>A (p.=)
4g.186284112C>GCA358941583F11c.994C>G (p.Pro332Ala)
c.1156C>G (p.Pro386Ala)
c.1159C>G (p.Pro387Ala)
c.889C>G (p.Pro297Ala)
c.1111C>G (p.Pro371Ala)
c.*2128C>G (p.=)
c.*24C>G (p.=)
4g.186284112C>TCA358941586F11c.994C>T (p.Pro332Ser)
c.1156C>T (p.Pro386Ser)
c.1159C>T (p.Pro387Ser)
c.889C>T (p.Pro297Ser)
c.1111C>T (p.Pro371Ser)
c.*2128C>T (p.=)
c.*24C>T (p.=)
4g.186284113C>ACA358941588F11c.995C>A (p.Pro332His)
c.1157C>A (p.Pro386His)
c.1160C>A (p.Pro387His)
c.890C>A (p.Pro297His)
c.1112C>A (p.Pro371His)
c.*2129C>A (p.=)
c.*25C>A (p.=)
4g.186284113C>GCA3163909F11c.995C>G (p.Pro332Arg)
c.1157C>G (p.Pro386Arg)
c.1160C>G (p.Pro387Arg)
c.890C>G (p.Pro297Arg)
c.1112C>G (p.Pro371Arg)
c.*2129C>G (p.=)
c.*25C>G (p.=)
dbSNP ExAC gnomAD
4g.186284113C>TCA358941592F11c.995C>T (p.Pro332Leu)
c.1157C>T (p.Pro386Leu)
c.1160C>T (p.Pro387Leu)
c.890C>T (p.Pro297Leu)
c.1112C>T (p.Pro371Leu)
c.*2129C>T (p.=)
c.*25C>T (p.=)
4g.186284114C>ACA442638901F11c.996C>A (p.Pro332=)
c.1158C>A (p.Pro386=)
c.1161C>A (p.Pro387=)
c.891C>A (p.Pro297=)
c.1113C>A (p.Pro371=)
c.*2130C>A (p.=)
c.*26C>A (p.=)
4g.186284114C>GCA442638902F11c.996C>G (p.Pro332=)
c.1158C>G (p.Pro386=)
c.1161C>G (p.Pro387=)
c.891C>G (p.Pro297=)
c.1113C>G (p.Pro371=)
c.*2130C>G (p.=)
c.*26C>G (p.=)
4g.186284114C>TCA442638903F11c.996C>T (p.Pro332=)
c.1158C>T (p.Pro386=)
c.1161C>T (p.Pro387=)
c.891C>T (p.Pro297=)
c.1113C>T (p.Pro371=)
c.*2130C>T (p.=)
c.*26C>T (p.=)
COSMIC COSMIC
4g.186284115A>CCA442638904F11c.997A>C (p.Arg333=)
c.1159A>C (p.Arg387=)
c.1162A>C (p.Arg388=)
c.892A>C (p.Arg298=)
c.1114A>C (p.Arg372=)
c.*2131A>C (p.=)
c.*27A>C (p.=)
gnomAD
4g.186284115A>GCA358941596F11c.997A>G (p.Arg333Gly)
c.1159A>G (p.Arg387Gly)
c.1162A>G (p.Arg388Gly)
c.892A>G (p.Arg298Gly)
c.1114A>G (p.Arg372Gly)
c.*2131A>G (p.=)
c.*27A>G (p.=)
4g.186284115A>TCA358941598F11c.997A>T (p.Arg333Trp)
c.1159A>T (p.Arg387Trp)
c.1162A>T (p.Arg388Trp)
c.892A>T (p.Arg298Trp)
c.1114A>T (p.Arg372Trp)
c.*2131A>T (p.=)
c.*27A>T (p.=)
4g.186284116G>ACA358941600F11c.998G>A (p.Arg333Lys)
c.1160G>A (p.Arg387Lys)
c.1163G>A (p.Arg388Lys)
c.893G>A (p.Arg298Lys)
c.1115G>A (p.Arg372Lys)
c.*2132G>A (p.=)
c.*28G>A (p.=)
4g.186284116G>CCA358941602F11c.998G>C (p.Arg333Thr)
c.1160G>C (p.Arg387Thr)
c.1163G>C (p.Arg388Thr)
c.893G>C (p.Arg298Thr)
c.1115G>C (p.Arg372Thr)
c.*2132G>C (p.=)
c.*28G>C (p.=)
4g.186284116G>TCA358941605F11c.998G>T (p.Arg333Met)
c.1160G>T (p.Arg387Met)
c.1163G>T (p.Arg388Met)
c.893G>T (p.Arg298Met)
c.1115G>T (p.Arg372Met)
c.*2132G>T (p.=)
c.*28G>T (p.=)
4g.186284117G>ACA442638906F11c.999G>A (p.Arg333=)
c.1161G>A (p.Arg387=)
c.1164G>A (p.Arg388=)
c.894G>A (p.Arg298=)
c.1116G>A (p.Arg372=)
c.*2133G>A (p.=)
c.*29G>A (p.=)
4g.186284117G>CCA358941607F11c.999G>C (p.Arg333Ser)
c.1161G>C (p.Arg387Ser)
c.1164G>C (p.Arg388Ser)
c.894G>C (p.Arg298Ser)
c.1116G>C (p.Arg372Ser)
c.*2133G>C (p.=)
c.*29G>C (p.=)
4g.186284117G>TCA358941609F11c.999G>T (p.Arg333Ser)
c.1161G>T (p.Arg387Ser)
c.1164G>T (p.Arg388Ser)
c.894G>T (p.Arg298Ser)
c.1116G>T (p.Arg372Ser)
c.*2133G>T (p.=)
c.*29G>T (p.=)
4g.186284118A>CCA358941615F11c.1000A>C (p.Ile334Leu)
c.1162A>C (p.Ile388Leu)
c.1165A>C (p.Ile389Leu)
c.895A>C (p.Ile299Leu)
c.1117A>C (p.Ile373Leu)
c.*2134A>C (p.=)
c.*30A>C (p.=)
4g.186284118A>GCA358941612F11c.1000A>G (p.Ile334Val)
c.1162A>G (p.Ile388Val)
c.1165A>G (p.Ile389Val)
c.895A>G (p.Ile299Val)
c.1117A>G (p.Ile373Val)
c.*2134A>G (p.=)
c.*30A>G (p.=)
4g.186284118A>TCA358941613F11c.1000A>T (p.Ile334Phe)
c.1162A>T (p.Ile388Phe)
c.1165A>T (p.Ile389Phe)
c.895A>T (p.Ile299Phe)
c.1117A>T (p.Ile373Phe)
c.*2134A>T (p.=)
c.*30A>T (p.=)
4g.186284119T>ACA358941617F11c.1001T>A (p.Ile334Asn)
c.1163T>A (p.Ile388Asn)
c.1166T>A (p.Ile389Asn)
c.896T>A (p.Ile299Asn)
c.1118T>A (p.Ile373Asn)
c.*2135T>A (p.=)
c.*31T>A (p.=)
4g.186284119T>CCA358941621F11c.1001T>C (p.Ile334Thr)
c.1163T>C (p.Ile388Thr)
c.1166T>C (p.Ile389Thr)
c.896T>C (p.Ile299Thr)
c.1118T>C (p.Ile373Thr)
c.*2135T>C (p.=)
c.*31T>C (p.=)
gnomAD
4g.186284119T>GCA358941622F11c.1001T>G (p.Ile334Ser)
c.1163T>G (p.Ile388Ser)
c.1166T>G (p.Ile389Ser)
c.896T>G (p.Ile299Ser)
c.1118T>G (p.Ile373Ser)
c.*2135T>G (p.=)
c.*31T>G (p.=)
4g.186284120C>ACA442638913F11c.1002C>A (p.Ile334=)
c.1164C>A (p.Ile388=)
c.1167C>A (p.Ile389=)
c.897C>A (p.Ile299=)
c.1119C>A (p.Ile373=)
c.*2136C>A (p.=)
c.*32C>A (p.=)
4g.186284120C>GCA358941624F11c.1002C>G (p.Ile334Met)
c.1164C>G (p.Ile388Met)
c.1167C>G (p.Ile389Met)
c.897C>G (p.Ile299Met)
c.1119C>G (p.Ile373Met)
c.*2136C>G (p.=)
c.*32C>G (p.=)
4g.186284120C>TCA442638912F11c.1002C>T (p.Ile334=)
c.1164C>T (p.Ile388=)
c.1167C>T (p.Ile389=)
c.897C>T (p.Ile299=)
c.1119C>T (p.Ile373=)
c.*2136C>T (p.=)
c.*32C>T (p.=)
gnomAD COSMIC COSMIC
4g.186284121G>ACA112102256F11c.1003G>A (p.Val335Ile)
c.1165G>A (p.Val389Ile)
c.1168G>A (p.Val390Ile)
c.898G>A (p.Val300Ile)
c.1120G>A (p.Val374Ile)
c.*2137G>A (p.=)
c.*33G>A (p.=)
dbSNP
4g.186284121G>CCA358941629F11c.1003G>C (p.Val335Leu)
c.1165G>C (p.Val389Leu)
c.1168G>C (p.Val390Leu)
c.898G>C (p.Val300Leu)
c.1120G>C (p.Val374Leu)
c.*2137G>C (p.=)
c.*33G>C (p.=)
COSMIC
4g.186284121G>TCA358941631F11c.1003G>T (p.Val335Phe)
c.1165G>T (p.Val389Phe)
c.1168G>T (p.Val390Phe)
c.898G>T (p.Val300Phe)
c.1120G>T (p.Val374Phe)
c.*2137G>T (p.=)
c.*33G>T (p.=)
4g.186284122T>ACA358941634F11c.1004T>A (p.Val335Asp)
c.1166T>A (p.Val389Asp)
c.1169T>A (p.Val390Asp)
c.899T>A (p.Val300Asp)
c.1121T>A (p.Val374Asp)
c.*2138T>A (p.=)
c.*34T>A (p.=)
4g.186284122T>CCA3163910F11c.1004T>C (p.Val335Ala)
c.1166T>C (p.Val389Ala)
c.1169T>C (p.Val390Ala)
c.899T>C (p.Val300Ala)
c.1121T>C (p.Val374Ala)
c.*2138T>C (p.=)
c.*34T>C (p.=)
dbSNP ExAC
4g.186284122T>GCA358941638F11c.1004T>G (p.Val335Gly)
c.1166T>G (p.Val389Gly)
c.1169T>G (p.Val390Gly)
c.899T>G (p.Val300Gly)
c.1121T>G (p.Val374Gly)
c.*2138T>G (p.=)
c.*34T>G (p.=)
4g.186284123T>ACA442638919F11c.1005T>A (p.Val335=)
c.1167T>A (p.Val389=)
c.1170T>A (p.Val390=)
c.900T>A (p.Val300=)
c.1122T>A (p.Val374=)
c.*2139T>A (p.=)
c.*35T>A (p.=)
4g.186284123T>CCA442638920F11c.1005T>C (p.Val335=)
c.1167T>C (p.Val389=)
c.1170T>C (p.Val390=)
c.900T>C (p.Val300=)
c.1122T>C (p.Val374=)
c.*2139T>C (p.=)
c.*35T>C (p.=)
4g.186284123T>GCA442638921F11c.1005T>G (p.Val335=)
c.1167T>G (p.Val389=)
c.1170T>G (p.Val390=)
c.900T>G (p.Val300=)
c.1122T>G (p.Val374=)
c.*2139T>G (p.=)
c.*35T>G (p.=)
4g.186284124G>ACA358941642F11c.1006G>A (p.Gly336Arg)
c.1168G>A (p.Gly390Arg)
c.1171G>A (p.Gly391Arg)
c.901G>A (p.Gly301Arg)
c.1123G>A (p.Gly375Arg)
c.*2140G>A (p.=)
c.*36G>A (p.=)
COSMIC
4g.186284124G>CCA358941644F11c.1006G>C (p.Gly336Arg)
c.1168G>C (p.Gly390Arg)
c.1171G>C (p.Gly391Arg)
c.901G>C (p.Gly301Arg)
c.1123G>C (p.Gly375Arg)
c.*2140G>C (p.=)
c.*36G>C (p.=)
4g.186284124G>TCA358941646F11c.1006G>T (p.Gly336Ter)
c.1168G>T (p.Gly390Ter)
c.1171G>T (p.Gly391Ter)
c.901G>T (p.Gly301Ter)
c.1123G>T (p.Gly375Ter)
c.*2140G>T (p.=)
c.*36G>T (p.=)
4g.186284125G>ACA358941653F11c.1007G>A (p.Gly336Glu)
c.1169G>A (p.Gly390Glu)
c.1172G>A (p.Gly391Glu)
c.902G>A (p.Gly301Glu)
c.1124G>A (p.Gly375Glu)
c.*2141G>A (p.=)
c.*37G>A (p.=)
4g.186284125G>CCA358941649F11c.1007G>C (p.Gly336Ala)
c.1169G>C (p.Gly390Ala)
c.1172G>C (p.Gly391Ala)
c.902G>C (p.Gly301Ala)
c.1124G>C (p.Gly375Ala)
c.*2141G>C (p.=)
c.*37G>C (p.=)

Number of alleles fetched