clingenPreferredTitle
is now communityStandardTitle
Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.6425372A= | CA2245346381 | AIPL1 | c.*88T= (p.=) c.*1115T= (p.=) n.251+8547T= c.*1214T= (p.=) | |
17 | g.6425372A>T | CA624662836 | AIPL1 | c.*88T>A (p.=) c.*1115T>A (p.=) n.251+8547T>A c.*1214T>A (p.=) | gnomAD |
17 | g.6425376del | CA981100499 | AIPL1 | c.*88del (p.=) c.*1115del (p.=) n.251+8547del c.*1214del (p.=) | |
17 | g.6425376A= | CA2245346382 | AIPL1 | c.*84T= (p.=) c.*1111T= (p.=) n.251+8543T= c.*1210T= (p.=) | |
17 | g.6425376A>T | CA981100505 | AIPL1 | c.*84T>A (p.=) c.*1111T>A (p.=) n.251+8543T>A c.*1210T>A (p.=) | |
17 | g.6425381C= | CA2245346384 | AIPL1 | c.*79G= (p.=) c.*1106G= (p.=) n.251+8538G= c.*1205G= (p.=) | |
17 | g.6425381C>T | CA2245346385 | AIPL1 | c.*79G>A (p.=) c.*1106G>A (p.=) n.251+8538G>A c.*1205G>A (p.=) | |
17 | g.6425383C>T | CA2518363108 | AIPL1 | c.*77G>A (p.=) c.*1104G>A (p.=) n.251+8536G>A c.*1203G>A (p.=) | |
17 | g.6425386C= | CA2245346388 | AIPL1 | c.*74G= (p.=) c.*1101G= (p.=) n.251+8533G= c.*1200G= (p.=) | |
17 | g.6425386C>T | CA774024366 | AIPL1 | c.*74G>A (p.=) c.*1101G>A (p.=) n.251+8533G>A c.*1200G>A (p.=) | |
17 | g.6425387G>A | CA287323615 | AIPL1 | c.*73C>T (p.=) c.*1100C>T (p.=) n.251+8532C>T c.*1199C>T (p.=) | dbSNP |
17 | g.6425387G= | CA2245346389 | AIPL1 | c.*73C= (p.=) c.*1100C= (p.=) n.251+8532C= c.*1199C= (p.=) | |
17 | g.6425394G= | CA2245346391 | AIPL1 | c.*66C= (p.=) c.*1093C= (p.=) n.251+8525C= c.*1192C= (p.=) c.*239C= (p.=) | |
17 | g.6425394G>T | CA2245346392 | AIPL1 | c.*66C>A (p.=) c.*1093C>A (p.=) n.251+8525C>A c.*1192C>A (p.=) c.*239C>A (p.=) | |
17 | g.6425397A= | CA2245346393 | AIPL1 | c.*63T= (p.=) c.*1090T= (p.=) n.251+8522T= c.*1189T= (p.=) c.*236T= (p.=) | |
17 | g.6425397A>C | CA774024371 | AIPL1 | c.*63T>G (p.=) c.*1090T>G (p.=) n.251+8522T>G c.*1189T>G (p.=) c.*236T>G (p.=) | |
17 | g.6425398A= | CA2245346395 | AIPL1 | c.*62T= (p.=) c.*1089T= (p.=) n.251+8521T= c.*1188T= (p.=) c.*235T= (p.=) | |
17 | g.6425398A>G | CA624662837 | AIPL1 | c.*62T>C (p.=) c.*1089T>C (p.=) n.251+8521T>C c.*1188T>C (p.=) c.*235T>C (p.=) | gnomAD |
17 | g.6425400C= | CA2245346398 | AIPL1 | c.*60G= (p.=) c.*1087G= (p.=) n.251+8519G= c.*1186G= (p.=) c.*233G= (p.=) | |
17 | g.6425400C>T | CA624662838 | AIPL1 | c.*60G>A (p.=) c.*1087G>A (p.=) n.251+8519G>A c.*1186G>A (p.=) c.*233G>A (p.=) | gnomAD |
17 | g.6425401G>A | CA981100515 | AIPL1 | c.*59C>T (p.=) c.*1086C>T (p.=) n.251+8518C>T c.*1185C>T (p.=) c.*232C>T (p.=) | |
17 | g.6425401G= | CA2245346400 | AIPL1 | c.*59C= (p.=) c.*1086C= (p.=) n.251+8518C= c.*1185C= (p.=) c.*232C= (p.=) | |
17 | g.6425404C= | CA2245346402 | AIPL1 | c.*56G= (p.=) c.*1083G= (p.=) n.251+8515G= c.*1182G= (p.=) c.*229G= (p.=) | |
17 | g.6425404C>T | CA287323618 | AIPL1 | c.*56G>A (p.=) c.*1083G>A (p.=) n.251+8515G>A c.*1182G>A (p.=) c.*229G>A (p.=) | dbSNP |
17 | g.6425407G>A | CA10640246 | AIPL1 | c.*53C>T (p.=) c.*1080C>T (p.=) n.251+8512C>T c.*1179C>T (p.=) c.*226C>T (p.=) | ClinVar dbSNP gnomAD |
17 | g.6425407G= | CA2245346408 | AIPL1 | c.*53C= (p.=) c.*1080C= (p.=) n.251+8512C= c.*1179C= (p.=) c.*226C= (p.=) | |
17 | g.6425407_6425408insC | CA656318000 | AIPL1 | c.*52_*53insG (p.=) c.*1079_*1080insG (p.=) n.251+8511_251+8512insG c.*1178_*1179insG (p.=) c.*225_*226insG (p.=) | COSMIC |
17 | g.6425409A= | CA2245346410 | AIPL1 | c.*51T= (p.=) c.*1078T= (p.=) n.251+8510T= c.*1177T= (p.=) c.*224T= (p.=) | |
17 | g.6425409A>T | CA8328287 | AIPL1 | c.*51T>A (p.=) c.*1078T>A (p.=) n.251+8510T>A c.*1177T>A (p.=) c.*224T>A (p.=) | dbSNP ExAC gnomAD |
17 | g.6425411T>A | CA8328288 | AIPL1 | c.*49A>T (p.=) c.*1076A>T (p.=) n.251+8508A>T c.*1175A>T (p.=) c.*222A>T (p.=) | dbSNP ExAC gnomAD |
17 | g.6425411T= | CA2245346411 | AIPL1 | c.*49A= (p.=) c.*1076A= (p.=) n.251+8508A= c.*1175A= (p.=) c.*222A= (p.=) | |
17 | g.6425415C>A | CA8328290 | AIPL1 | c.*45G>T (p.=) c.*1072G>T (p.=) n.251+8504G>T c.*1171G>T (p.=) c.*218G>T (p.=) | dbSNP ExAC gnomAD |
17 | g.6425415C= | CA2245346413 | AIPL1 | c.*45G= (p.=) c.*1072G= (p.=) n.251+8504G= c.*1171G= (p.=) c.*218G= (p.=) | |
17 | g.6425415C>G | CA8328289 | AIPL1 | c.*45G>C (p.=) c.*1072G>C (p.=) n.251+8504G>C c.*1171G>C (p.=) c.*218G>C (p.=) | dbSNP ExAC gnomAD |
17 | g.6425416A= | CA2245346414 | AIPL1 | c.*44T= (p.=) c.*1071T= (p.=) n.251+8503T= c.*1170T= (p.=) c.*217T= (p.=) | |
17 | g.6425416_6425417insCTTCAATC | CA981100525 | AIPL1 | c.*43_*44insGATTGAAG (p.=) c.*1070_*1071insGATTGAAG (p.=) n.251+8502_251+8503insGATTGAAG c.*1169_*1170insGATTGAAG (p.=) c.*216_*217insGATTGAAG (p.=) | dbSNP |
17 | g.6425416_6425417insCTTCAATCG | CA2245346417 | AIPL1 | c.*43_*44insCGATTGAAG (p.=) c.*1070_*1071insCGATTGAAG (p.=) n.251+8502_251+8503insCGATTGAAG c.*1169_*1170insCGATTGAAG (p.=) c.*216_*217insCGATTGAAG (p.=) | dbSNP |
17 | g.6425417G>A | CA2245346419 | AIPL1 | c.*43C>T (p.=) c.*1070C>T (p.=) n.251+8502C>T c.*1169C>T (p.=) c.*216C>T (p.=) | |
17 | g.6425417G= | CA2245346418 | AIPL1 | c.*43C= (p.=) c.*1070C= (p.=) n.251+8502C= c.*1169C= (p.=) c.*216C= (p.=) | |
17 | g.6425417_6425418insA | CA981100532 | AIPL1 | c.*42_*43insT (p.=) c.*1069_*1070insT (p.=) n.251+8501_251+8502insT c.*1168_*1169insT (p.=) c.*215_*216insT (p.=) | dbSNP |
17 | g.6425418G>A | CA8328291 | AIPL1 | c.*42C>T (p.=) c.*1069C>T (p.=) n.251+8501C>T c.*1168C>T (p.=) c.*215C>T (p.=) | dbSNP ExAC gnomAD |
17 | g.6425418G= | CA2245346421 | AIPL1 | c.*42C= (p.=) c.*1069C= (p.=) n.251+8501C= c.*1168C= (p.=) c.*215C= (p.=) | |
17 | g.6425419C= | CA2245346423 | AIPL1 | c.*41G= (p.=) c.*1068G= (p.=) n.251+8500G= c.*1167G= (p.=) c.*214G= (p.=) | |
17 | g.6425419C>T | CA8328292 | AIPL1 | c.*41G>A (p.=) c.*1068G>A (p.=) n.251+8500G>A c.*1167G>A (p.=) c.*214G>A (p.=) | dbSNP ExAC gnomAD |
17 | g.6425420C= | CA2245346426 | AIPL1 | c.*40G= (p.=) c.*1067G= (p.=) n.251+8499G= c.*1166G= (p.=) c.*213G= (p.=) | |
17 | g.6425420C>G | CA624662839 | AIPL1 | c.*40G>C (p.=) c.*1067G>C (p.=) n.251+8499G>C c.*1166G>C (p.=) c.*213G>C (p.=) | gnomAD |
17 | g.6425422C= | CA2245346428 | AIPL1 | c.*38G= (p.=) c.*1065G= (p.=) n.251+8497G= c.*1164G= (p.=) c.*211G= (p.=) | |
17 | g.6425422C>G | CA624662840 | AIPL1 | c.*38G>C (p.=) c.*1065G>C (p.=) n.251+8497G>C c.*1164G>C (p.=) c.*211G>C (p.=) | gnomAD |
17 | g.6425423T>C | CA624662841 | AIPL1 | c.*37A>G (p.=) c.*1064A>G (p.=) n.251+8496A>G c.*1163A>G (p.=) c.*210A>G (p.=) | gnomAD |
17 | g.6425423T= | CA2245346430 | AIPL1 | c.*37A= (p.=) c.*1064A= (p.=) n.251+8496A= c.*1163A= (p.=) c.*210A= (p.=) |