Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.6425324_6425325insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA981100307 | AIPL1 | c.*152_*153insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*152_*153insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*1179_*1180insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1179_*1180insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.251+8611_251+8612insAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1278_*1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1278_*1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425324dup | CA624662813 | AIPL1 | c.*152dup (n.*152dup) c.*1179dup (n.*1179dup) c.251+8611dup c.*1278dup (n.*1278dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425323_6425324dup | CA10640245 | AIPL1 | c.*151_*152dup (n.*151_*152dup) c.*1178_*1179dup (n.*1178_*1179dup) c.251+8610_251+8611dup c.*1277_*1278dup (n.*1277_*1278dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425322_6425324dup | CA397394151 | AIPL1 | c.*150_*152dup (n.*150_*152dup) c.*1177_*1179dup (n.*1177_*1179dup) c.251+8609_251+8611dup c.*1276_*1278dup (n.*1276_*1278dup) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425321_6425324dup | CA774024230 | AIPL1 | c.*149_*152dup (n.*149_*152dup) c.*1176_*1179dup (n.*1176_*1179dup) c.251+8608_251+8611dup c.*1275_*1278dup (n.*1275_*1278dup) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425320_6425324dup | CA774024224 | AIPL1 | c.*148_*152dup (n.*148_*152dup) c.*1175_*1179dup (n.*1175_*1179dup) c.251+8607_251+8611dup c.*1274_*1278dup (n.*1274_*1278dup) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425319_6425324dup | CA981100295 | AIPL1 | c.*147_*152dup (n.*147_*152dup) c.*1174_*1179dup (n.*1174_*1179dup) c.251+8606_251+8611dup c.*1273_*1278dup (n.*1273_*1278dup) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425318_6425324dup | CA981100293 | AIPL1 | c.*146_*152dup (n.*146_*152dup) c.*1173_*1179dup (n.*1173_*1179dup) c.251+8605_251+8611dup c.*1272_*1278dup (n.*1272_*1278dup) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425324del | CA497584734 | AIPL1 | c.*152del (n.*152del) c.*1179del (n.*1179del) c.251+8611del c.*1278del (n.*1278del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425323_6425324del | CA10650674 | AIPL1 | c.*151_*152del (n.*151_*152del) c.*1178_*1179del (n.*1178_*1179del) c.251+8610_251+8611del c.*1277_*1278del (n.*1277_*1278del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425322_6425324del | CA287323567 | AIPL1 | c.*150_*152del (n.*150_*152del) c.*1177_*1179del (n.*1177_*1179del) c.251+8609_251+8611del c.*1276_*1278del (n.*1276_*1278del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425321_6425324del | CA624662816 | AIPL1 | c.*149_*152del (n.*149_*152del) c.*1176_*1179del (n.*1176_*1179del) c.251+8608_251+8611del c.*1275_*1278del (n.*1275_*1278del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425320_6425324del | CA774024260 | AIPL1 | c.*148_*152del (n.*148_*152del) c.*1175_*1179del (n.*1175_*1179del) c.251+8607_251+8611del c.*1274_*1278del (n.*1274_*1278del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425319_6425324del | CA981100278 | AIPL1 | c.*147_*152del (n.*147_*152del) c.*1174_*1179del (n.*1174_*1179del) c.251+8606_251+8611del c.*1273_*1278del (n.*1273_*1278del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425318_6425324del | CA2635688689 | AIPL1 | c.*146_*152del (n.*146_*152del) c.*1173_*1179del (n.*1173_*1179del) c.251+8605_251+8611del c.*1272_*1278del (n.*1272_*1278del) | gnomAD v4 |
17 | g.6425317_6425324del | CA2635688688 | AIPL1 | c.*145_*152del (n.*145_*152del) c.*1172_*1179del (n.*1172_*1179del) c.251+8604_251+8611del c.*1271_*1278del (n.*1271_*1278del) | gnomAD v4 |
17 | g.6425310_6425329del | CA2635688694 | AIPL1 | c.*132_*151del (n.*132_*151del) c.*1159_*1178del (n.*1159_*1178del) c.251+8591_251+8610del c.*1258_*1277del (n.*1258_*1277del) | gnomAD v4 |
17 | g.6425317T>C | CA2635688710 | AIPL1 | c.*143A>G (n.*143A>G) c.*1170A>G (n.*1170A>G) c.251+8602A>G c.*1269A>G (n.*1269A>G) | gnomAD v4 |
17 | g.6425317T>G | CA774024325 | AIPL1 | c.*143A>C (n.*143A>C) c.*1170A>C (n.*1170A>C) c.251+8602A>C c.*1269A>C (n.*1269A>C) | dbSNP gnomAD v4 |
17 | g.6425317T= | CA2245346326 | AIPL1 | c.*143A= (n.*143A=) c.*1170A= (n.*1170A=) c.251+8602A= c.*1269A= (n.*1269A=) | |
17 | g.6425318T>C | CA774024327 | AIPL1 | c.*142A>G (n.*142A>G) c.*1169A>G (n.*1169A>G) c.251+8601A>G c.*1268A>G (n.*1268A>G) | dbSNP gnomAD v4 |
17 | g.6425318T= | CA2245346328 | AIPL1 | c.*142A= (n.*142A=) c.*1169A= (n.*1169A=) c.251+8601A= c.*1268A= (n.*1268A=) | |
17 | g.6425322_6425325del | CA2635688711 | AIPL1 | c.*135_*138del (n.*135_*138del) c.*1162_*1165del (n.*1162_*1165del) c.251+8594_251+8597del c.*1261_*1264del (n.*1261_*1264del) | gnomAD v4 |
17 | g.6425323_6425325del | CA2635688712 | AIPL1 | c.*135_*137del (n.*135_*137del) c.*1162_*1164del (n.*1162_*1164del) c.251+8594_251+8596del c.*1261_*1263del (n.*1261_*1263del) | gnomAD v4 |
17 | g.6425323_6425325delinsTTA | CA2245346330 | AIPL1 | c.*135_*137delinsTAA (n.*135_*137delinsTAA) c.*1162_*1164delinsTAA (n.*1162_*1164delinsTAA) c.251+8594_251+8596delinsTAA c.*1261_*1263delinsTAA (n.*1261_*1263delinsTAA) | |
17 | g.6425324T>A | CA2245346339 | AIPL1 | c.*136A>T (n.*136A>T) c.*1163A>T (n.*1163A>T) c.251+8595A>T c.*1262A>T (n.*1262A>T) | dbSNP gnomAD v4 |
17 | g.6425324T>C | CA2245346338 | AIPL1 | c.*136A>G (n.*136A>G) c.*1163A>G (n.*1163A>G) c.251+8595A>G c.*1262A>G (n.*1262A>G) | dbSNP gnomAD v4 |
17 | g.6425324T>G | CA2245346337 | AIPL1 | c.*136A>C (n.*136A>C) c.*1163A>C (n.*1163A>C) c.251+8595A>C c.*1262A>C (n.*1262A>C) | dbSNP |
17 | g.6425324T= | CA2245346332 | AIPL1 | c.*136A= (n.*136A=) c.*1163A= (n.*1163A=) c.251+8595A= c.*1262A= (n.*1262A=) | |
17 | g.6425324_6425325del | CA624662830 | AIPL1 | c.*135_*136del (n.*135_*136del) c.*1162_*1163del (n.*1162_*1163del) c.251+8594_251+8595del c.*1261_*1262del (n.*1261_*1262del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425324_6425325delinsTA | CA2245346335 | AIPL1 | c.*135_*136delinsTA (n.*135_*136delinsTA) c.*1162_*1163delinsTA (n.*1162_*1163delinsTA) c.251+8594_251+8595delinsTA c.*1261_*1262delinsTA (n.*1261_*1262delinsTA) | |
17 | g.6425324_6425326delinsTAC | CA2245346333 | AIPL1 | c.*134_*136delinsGTA (n.*134_*136delinsGTA) c.*1161_*1163delinsGTA (n.*1161_*1163delinsGTA) c.251+8593_251+8595delinsGTA c.*1260_*1262delinsGTA (n.*1260_*1262delinsGTA) | |
17 | g.6425324_6425325insTA | CA2635688720 | AIPL1 | c.*135_*136insTA (n.*135_*136insTA) c.*1162_*1163insTA (n.*1162_*1163insTA) c.251+8594_251+8595insTA c.*1261_*1262insTA (n.*1261_*1262insTA) | gnomAD v4 |
17 | g.6425324_6425325insTAA | CA2635688722 | AIPL1 | c.*135_*136insTTA (n.*135_*136insTTA) c.*1162_*1163insTTA (n.*1162_*1163insTTA) c.251+8594_251+8595insTTA c.*1261_*1262insTTA (n.*1261_*1262insTTA) | gnomAD v4 |
17 | g.6425324_6425325insTTA | CA2635688721 | AIPL1 | c.*135_*136insTAA (n.*135_*136insTAA) c.*1162_*1163insTAA (n.*1162_*1163insTAA) c.251+8594_251+8595insTAA c.*1261_*1262insTAA (n.*1261_*1262insTAA) | gnomAD v4 |
17 | g.6425324_6425325insTTAA | CA2635688719 | AIPL1 | c.*135_*136insTTAA (n.*135_*136insTTAA) c.*1162_*1163insTTAA (n.*1162_*1163insTTAA) c.251+8594_251+8595insTTAA c.*1261_*1262insTTAA (n.*1261_*1262insTTAA) | gnomAD v4 |
17 | g.6425324_6425325insTTTA | CA2635688718 | AIPL1 | c.*135_*136insTAAA (n.*135_*136insTAAA) c.*1162_*1163insTAAA (n.*1162_*1163insTAAA) c.251+8594_251+8595insTAAA c.*1261_*1262insTAAA (n.*1261_*1262insTAAA) | gnomAD v4 |
17 | g.6425324_6425325insTTTAA | CA2635688717 | AIPL1 | c.*135_*136insTTAAA (n.*135_*136insTTAAA) c.*1162_*1163insTTAAA (n.*1162_*1163insTTAAA) c.251+8594_251+8595insTTAAA c.*1261_*1262insTTAAA (n.*1261_*1262insTTAAA) | gnomAD v4 |
17 | g.6425324_6425325insTTTTA | CA2635688716 | AIPL1 | c.*135_*136insTAAAA (n.*135_*136insTAAAA) c.*1162_*1163insTAAAA (n.*1162_*1163insTAAAA) c.251+8594_251+8595insTAAAA c.*1261_*1262insTAAAA (n.*1261_*1262insTAAAA) | gnomAD v4 |
17 | g.6425325del | CA981100349 | AIPL1 | c.*135del (n.*135del) c.*1162del (n.*1162del) c.251+8594del c.*1261del (n.*1261del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425325A>C | CA2501740502 | AIPL1 | c.*135T>G (n.*135T>G) c.*1162T>G (n.*1162T>G) c.251+8594T>G c.*1261T>G (n.*1261T>G) | gnomAD v4 |
17 | g.6425325A>G | CA2635688713 | AIPL1 | c.*135T>C (n.*135T>C) c.*1162T>C (n.*1162T>C) c.251+8594T>C c.*1261T>C (n.*1261T>C) | gnomAD v4 |
17 | g.6425325A>T | CA624662831 | AIPL1 | c.*135T>A (n.*135T>A) c.*1162T>A (n.*1162T>A) c.251+8594T>A c.*1261T>A (n.*1261T>A) | gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425325_6425326del | CA981100360 | AIPL1 | c.*134_*135del (n.*134_*135del) c.*1161_*1162del (n.*1161_*1162del) c.251+8593_251+8594del c.*1260_*1261del (n.*1260_*1261del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425325_6425328del | CA981100365 | AIPL1 | c.*132_*135del (n.*132_*135del) c.*1159_*1162del (n.*1159_*1162del) c.251+8591_251+8594del c.*1258_*1261del (n.*1258_*1261del) | gnomAD v3 gnomAD v4 |
17 | g.6425325_6425332del | CA981100375 | AIPL1 | c.*128_*135del (n.*128_*135del) c.*1155_*1162del (n.*1155_*1162del) c.251+8587_251+8594del c.*1254_*1261del (n.*1254_*1261del) | gnomAD v3 gnomAD v4 |
17 | g.6425325_6425334del | CA2635688715 | AIPL1 | c.*126_*135del (n.*126_*135del) c.*1153_*1162del (n.*1153_*1162del) c.251+8585_251+8594del c.*1252_*1261del (n.*1252_*1261del) | gnomAD v4 |
17 | g.6425325_6425336del | CA2635688714 | AIPL1 | c.*124_*135del (n.*124_*135del) c.*1151_*1162del (n.*1151_*1162del) c.251+8583_251+8594del c.*1250_*1261del (n.*1250_*1261del) | gnomAD v4 |
17 | g.6425326C>A | CA10646499 | AIPL1 | c.*134G>T (n.*134G>T) c.*1161G>T (n.*1161G>T) c.251+8593G>T c.*1260G>T (n.*1260G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425326C= | CA2245346349 | AIPL1 | c.*134G= (n.*134G=) c.*1161G= (n.*1161G=) c.251+8593G= c.*1260G= (n.*1260G=) |