Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.6425304_6425307delinsATTG | CA2245346233 | AIPL1 | c.*153_*156delinsCAAT (n.*153_*156delinsCAAT) c.*1180_*1183delinsCAAT (n.*1180_*1183delinsCAAT) c.251+8612_251+8615delinsCAAT c.*1279_*1282delinsCAAT (n.*1279_*1282delinsCAAT) | |
17 | g.6425304_6425308delinsATTGT | CA2245346234 | AIPL1 | c.*152_*156delinsACAAT (n.*152_*156delinsACAAT) c.*1179_*1183delinsACAAT (n.*1179_*1183delinsACAAT) c.251+8611_251+8615delinsACAAT c.*1278_*1282delinsACAAT (n.*1278_*1282delinsACAAT) | |
17 | g.6425305T>A | CA2635688679 | AIPL1 | c.*155A>T (n.*155A>T) c.*1182A>T (n.*1182A>T) c.251+8614A>T c.*1281A>T (n.*1281A>T) | gnomAD v4 |
17 | g.6425305T>G | CA2635688678 | AIPL1 | c.*155A>C (n.*155A>C) c.*1182A>C (n.*1182A>C) c.251+8614A>C c.*1281A>C (n.*1281A>C) | gnomAD v4 |
17 | g.6425305_6425306del | CA2635688681 | AIPL1 | c.*154_*155del (n.*154_*155del) c.*1181_*1182del (n.*1181_*1182del) c.251+8613_251+8614del c.*1280_*1281del (n.*1280_*1281del) | gnomAD v4 |
17 | g.6425306dup | CA774024191 | AIPL1 | c.*155dup (n.*155dup) c.*1182dup (n.*1182dup) c.251+8614dup c.*1281dup (n.*1281dup) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425305_6425306dup | CA2245346237 | AIPL1 | c.*154_*155dup (n.*154_*155dup) c.*1181_*1182dup (n.*1181_*1182dup) c.251+8613_251+8614dup c.*1280_*1281dup (n.*1280_*1281dup) | dbSNP |
17 | g.6425306del | CA2635688682 | AIPL1 | c.*155del (n.*155del) c.*1182del (n.*1182del) c.251+8614del c.*1281del (n.*1281del) | dbSNP gnomAD v4 |
17 | g.6425305_6425307delinsTTG | CA2245346238 | AIPL1 | c.*153_*155delinsCAA (n.*153_*155delinsCAA) c.*1180_*1182delinsCAA (n.*1180_*1182delinsCAA) c.251+8612_251+8614delinsCAA c.*1279_*1281delinsCAA (n.*1279_*1281delinsCAA) | |
17 | g.6425307_6425309del | CA10646493 | AIPL1 | c.*153_*155del (n.*153_*155del) c.*1180_*1182del (n.*1180_*1182del) c.251+8612_251+8614del c.*1279_*1281del (n.*1279_*1281del) | ClinVar dbSNP gnomAD v4 |
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.6425306T>G | CA2635688685 | AIPL1 | c.*154A>C (n.*154A>C) c.*1181A>C (n.*1181A>C) c.251+8613A>C c.*1280A>C (n.*1280A>C) | gnomAD v4 |
17 | g.6425306_6425307delinsTG | CA2245346245 | AIPL1 | c.*153_*154delinsCA (n.*153_*154delinsCA) c.*1180_*1181delinsCA (n.*1180_*1181delinsCA) c.251+8612_251+8613delinsCA c.*1279_*1280delinsCA (n.*1279_*1280delinsCA) | |
17 | g.6425307_6425308del | CA10649842 | AIPL1 | c.*153_*154del (n.*153_*154del) c.*1180_*1181del (n.*1180_*1181del) c.251+8612_251+8613del c.*1279_*1280del (n.*1279_*1280del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425307del | CA10646494 | AIPL1 | c.*153del (n.*153del) c.*1180del (n.*1180del) c.251+8612del c.*1279del (n.*1279del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425307G= | CA2245346248 | AIPL1 | c.*153C= (n.*153C=) c.*1180C= (n.*1180C=) c.251+8612C= c.*1279C= (n.*1279C=) | |
17 | g.6425307G>T | CA287323561 | AIPL1 | c.*153C>A (n.*153C>A) c.*1180C>A (n.*1180C>A) c.251+8612C>A c.*1279C>A (n.*1279C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425307dup | CA2635688686 | AIPL1 | c.*153dup (n.*153dup) c.*1180dup (n.*1180dup) c.251+8612dup c.*1279dup (n.*1279dup) | gnomAD v4 |
17 | g.6425307_6425309delinsGTT | CA2573050269 | AIPL1 | c.*151_*153delinsAAC (n.*151_*153delinsAAC) c.*1178_*1180delinsAAC (n.*1178_*1180delinsAAC) c.251+8610_251+8612delinsAAC c.*1277_*1279delinsAAC (n.*1277_*1279delinsAAC) | |
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.6425307_6425308insCTT | CA981100300 | AIPL1 | c.*152_*153insAAG (n.*152_*153insAAG) c.*1179_*1180insAAG (n.*1179_*1180insAAG) c.251+8611_251+8612insAAG c.*1278_*1279insAAG (n.*1278_*1279insAAG) | gnomAD v3 gnomAD v4 |
17 | g.6425308T>C | CA2635688687 | AIPL1 | c.*152A>G (n.*152A>G) c.*1179A>G (n.*1179A>G) c.251+8611A>G c.*1278A>G (n.*1278A>G) | gnomAD v4 |
17 | g.6425308T>G | CA774024257 | AIPL1 | c.*152A>C (n.*152A>C) c.*1179A>C (n.*1179A>C) c.251+8611A>C c.*1278A>C (n.*1278A>C) | dbSNP gnomAD v4 |
17 | g.6425308T= | CA2245346268 | AIPL1 | c.*152A= (n.*152A=) c.*1179A= (n.*1179A=) c.251+8611A= c.*1278A= (n.*1278A=) | |
17 | g.6425308_6425309insGTT | CA774024237 | AIPL1 | c.*152_*153insACA (n.*152_*153insACA) c.*1179_*1180insACA (n.*1179_*1180insACA) c.251+8611_251+8612insACA c.*1278_*1279insACA (n.*1278_*1279insACA) | dbSNP |
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.6425308_6425309insG | CA624662818 | AIPL1 | c.*151_*152insC (n.*151_*152insC) c.*1178_*1179insC (n.*1178_*1179insC) c.251+8610_251+8611insC c.*1277_*1278insC (n.*1277_*1278insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |