Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.6425307_6425310del | CA2245346239 | AIPL1 | c.*152_*155del (n.*152_*155del) c.*1179_*1182del (n.*1179_*1182del) c.251+8611_251+8614del c.*1278_*1281del (n.*1278_*1281del) | dbSNP gnomAD v4 |
17 | g.6425307_6425311dup | CA624662809 | AIPL1 | c.*151_*155dup (n.*151_*155dup) c.*1178_*1182dup (n.*1178_*1182dup) c.251+8610_251+8614dup c.*1277_*1281dup (n.*1277_*1281dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425307_6425311del | CA2635688680 | AIPL1 | c.*151_*155del (n.*151_*155del) c.*1178_*1182del (n.*1178_*1182del) c.251+8610_251+8614del c.*1277_*1281del (n.*1277_*1281del) | gnomAD v4 |
17 | g.6425307_6425310delinsGTTT | CA2497029530 | AIPL1 | c.*150_*153delinsAAAC (n.*150_*153delinsAAAC) c.*1177_*1180delinsAAAC (n.*1177_*1180delinsAAAC) c.251+8609_251+8612delinsAAAC c.*1276_*1279delinsAAAC (n.*1276_*1279delinsAAAC) | |
17 | g.6425307_6425313delinsGTTTTTT | CA2245346251 | AIPL1 | c.*147_*153delinsAAAAAAC (n.*147_*153delinsAAAAAAC) c.*1174_*1180delinsAAAAAAC (n.*1174_*1180delinsAAAAAAC) c.251+8606_251+8612delinsAAAAAAC c.*1273_*1279delinsAAAAAAC (n.*1273_*1279delinsAAAAAAC) | |
17 | g.6425311_6425312insGTTTTT | CA919782747 | AIPL1 | c.*152_*153insACAAAA (n.*152_*153insACAAAA) c.*1179_*1180insACAAAA (n.*1179_*1180insACAAAA) c.251+8611_251+8612insACAAAA c.*1278_*1279insACAAAA (n.*1278_*1279insACAAAA) | dbSNP gnomAD v4 |
17 | g.6425311_6425312insGTTTTTT | CA2635688693 | AIPL1 | c.*152_*153insAACAAAA (n.*152_*153insAACAAAA) c.*1179_*1180insAACAAAA (n.*1179_*1180insAACAAAA) c.251+8611_251+8612insAACAAAA c.*1278_*1279insAACAAAA (n.*1278_*1279insAACAAAA) | gnomAD v4 |
17 | g.6425311_6425312insGTTTTTTT | CA2635688692 | AIPL1 | c.*152_*153insAAACAAAA (n.*152_*153insAAACAAAA) c.*1179_*1180insAAACAAAA (n.*1179_*1180insAAACAAAA) c.251+8611_251+8612insAAACAAAA c.*1278_*1279insAAACAAAA (n.*1278_*1279insAAACAAAA) | gnomAD v4 |
17 | g.6425311_6425312insGTTTTTTTT | CA2635688691 | AIPL1 | c.*152_*153insAAAACAAAA (n.*152_*153insAAAACAAAA) c.*1179_*1180insAAAACAAAA (n.*1179_*1180insAAAACAAAA) c.251+8611_251+8612insAAAACAAAA c.*1278_*1279insAAAACAAAA (n.*1278_*1279insAAAACAAAA) | gnomAD v4 |
17 | g.6425311_6425312insGTTTTTTTTTT | CA2635688690 | AIPL1 | c.*152_*153insAAAAAACAAAA (n.*152_*153insAAAAAACAAAA) c.*1179_*1180insAAAAAACAAAA (n.*1179_*1180insAAAAAACAAAA) c.251+8611_251+8612insAAAAAACAAAA c.*1278_*1279insAAAAAACAAAA (n.*1278_*1279insAAAAAACAAAA) | gnomAD v4 |
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_6425311insGTT | CA2635688695 | AIPL1 | c.*151_*152insCAA (n.*151_*152insCAA) c.*1178_*1179insCAA (n.*1178_*1179insCAA) c.251+8610_251+8611insCAA c.*1277_*1278insCAA (n.*1277_*1278insCAA) | gnomAD v4 |
17 | g.6425311_6425312insGTTT | CA397394152 | AIPL1 | c.*151_*152insCAAA (n.*151_*152insCAAA) c.*1178_*1179insCAAA (n.*1178_*1179insCAAA) c.251+8610_251+8611insCAAA c.*1277_*1278insCAAA (n.*1277_*1278insCAAA) | dbSNP gnomAD v2 gnomAD v3 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.6425310T>C | CA2635688698 | AIPL1 | c.*150A>G (n.*150A>G) c.*1177A>G (n.*1177A>G) c.251+8609A>G c.*1276A>G (n.*1276A>G) | gnomAD v4 |
17 | g.6425310T>G | CA10650675 | AIPL1 | c.*150A>C (n.*150A>C) c.*1177A>C (n.*1177A>C) c.251+8609A>C c.*1276A>C (n.*1276A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425310T= | CA2245346289 | AIPL1 | c.*150A= (n.*150A=) c.*1177A= (n.*1177A=) c.251+8609A= c.*1276A= (n.*1276A=) | |
17 | g.6425310_6425311insGT | CA624662824 | AIPL1 | c.*150_*151insCA (n.*150_*151insCA) c.*1177_*1178insCA (n.*1177_*1178insCA) c.251+8609_251+8610insCA c.*1276_*1277insCA (n.*1276_*1277insCA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425311_6425312insGTT | CA10646496 | AIPL1 | c.*150_*151insCAA (n.*150_*151insCAA) c.*1177_*1178insCAA (n.*1177_*1178insCAA) c.251+8609_251+8610insCAA c.*1276_*1277insCAA (n.*1276_*1277insCAA) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425310_6425311insG | CA2635688701 | AIPL1 | c.*149_*150insC (n.*149_*150insC) c.*1176_*1177insC (n.*1176_*1177insC) c.251+8608_251+8609insC c.*1275_*1276insC (n.*1275_*1276insC) | gnomAD v4 |
17 | g.6425310_6425311insAG | CA2635688702 | AIPL1 | c.*149_*150insCT (n.*149_*150insCT) c.*1176_*1177insCT (n.*1176_*1177insCT) c.251+8608_251+8609insCT c.*1275_*1276insCT (n.*1275_*1276insCT) | gnomAD v4 |
17 | g.6425311T>C | CA2635688700 | AIPL1 | c.*149A>G (n.*149A>G) c.*1176A>G (n.*1176A>G) c.251+8608A>G c.*1275A>G (n.*1275A>G) | gnomAD v4 |
17 | g.6425311T>G | CA287323582 | AIPL1 | c.*149A>C (n.*149A>C) c.*1176A>C (n.*1176A>C) c.251+8608A>C c.*1275A>C (n.*1275A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425311T= | CA2245346294 | AIPL1 | c.*149A= (n.*149A=) c.*1176A= (n.*1176A=) c.251+8608A= c.*1275A= (n.*1275A=) | |
17 | g.6425311_6425312insGT | CA287323581 | AIPL1 | c.*149_*150insCA (n.*149_*150insCA) c.*1176_*1177insCA (n.*1176_*1177insCA) c.251+8608_251+8609insCA c.*1275_*1276insCA (n.*1275_*1276insCA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425311_6425312insGGT | CA397394153 | AIPL1 | c.*149_*150insCCA (n.*149_*150insCCA) c.*1176_*1177insCCA (n.*1176_*1177insCCA) c.251+8608_251+8609insCCA c.*1275_*1276insCCA (n.*1275_*1276insCCA) | dbSNP gnomAD v4 |
17 | g.6425311_6425312insG | CA287323583 | AIPL1 | c.*148_*149insC (n.*148_*149insC) c.*1175_*1176insC (n.*1175_*1176insC) c.251+8607_251+8608insC c.*1274_*1275insC (n.*1274_*1275insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6425311_6425312insGTA | CA287323585 | AIPL1 | c.*148_*149insTAC (n.*148_*149insTAC) c.*1175_*1176insTAC (n.*1175_*1176insTAC) c.251+8607_251+8608insTAC c.*1274_*1275insTAC (n.*1274_*1275insTAC) | dbSNP |
17 | g.6425312T>C | CA624662829 | AIPL1 | c.*148A>G (n.*148A>G) c.*1175A>G (n.*1175A>G) c.251+8607A>G c.*1274A>G (n.*1274A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425312T>G | CA287323588 | AIPL1 | c.*148A>C (n.*148A>C) c.*1175A>C (n.*1175A>C) c.251+8607A>C c.*1274A>C (n.*1274A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425312T= | CA2245346302 | AIPL1 | c.*148A= (n.*148A=) c.*1175A= (n.*1175A=) c.251+8607A= c.*1274A= (n.*1274A=) | |
17 | g.6425312_6425313insC | CA2635688703 | AIPL1 | c.*147_*148insG (n.*147_*148insG) c.*1174_*1175insG (n.*1174_*1175insG) c.251+8606_251+8607insG c.*1273_*1274insG (n.*1273_*1274insG) | gnomAD v4 |
17 | g.6425313T>C | CA2635688704 | AIPL1 | c.*147A>G (n.*147A>G) c.*1174A>G (n.*1174A>G) c.251+8606A>G c.*1273A>G (n.*1273A>G) | gnomAD v4 |
17 | g.6425313T>G | CA10646497 | AIPL1 | c.*147A>C (n.*147A>C) c.*1174A>C (n.*1174A>C) c.251+8606A>C c.*1273A>C (n.*1273A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425313T= | CA2245346308 | AIPL1 | c.*147A= (n.*147A=) c.*1174A= (n.*1174A=) c.251+8606A= c.*1273A= (n.*1273A=) |