Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94041298G>A | CA341290846 | ABCA4 | c.3433C>T (p.Leu1145Phe) c.-64-1209C>T (n.-64-1209C>T) | |
1 | g.94041298G>C | CA341290850 | ABCA4 | c.3433C>G (p.Leu1145Val) c.-64-1209C>G (n.-64-1209C>G) | |
1 | g.94041298G>T | CA341290851 | ABCA4 | c.3433C>A (p.Leu1145Ile) c.-64-1209C>A (n.-64-1209C>A) | |
1 | g.94041299T>A | CA418826302 | ABCA4 | c.3432A>T (p.Pro1144=) c.-64-1210A>T (n.-64-1210A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94041299T>C | CA418826303 | ABCA4 | c.3432A>G (p.Pro1144=) c.-64-1210A>G (n.-64-1210A>G) | ClinVar |
1 | g.94041299T>G | CA418826304 | ABCA4 | c.3432A>C (p.Pro1144=) c.-64-1210A>C (n.-64-1210A>C) | |
1 | g.94041299T= | CA1181420036 | ABCA4 | c.3432A= (p.Pro1144=) c.-64-1210A= (n.-64-1210A=) | |
1 | g.94041300G>A | CA341290853 | ABCA4 | c.3431C>T (p.Pro1144Leu) c.-64-1211C>T (n.-64-1211C>T) | dbSNP |
1 | g.94041300G>C | CA341290855 | ABCA4 | c.3431C>G (p.Pro1144Arg) c.-64-1211C>G (n.-64-1211C>G) | |
1 | g.94041300G= | CA1181420037 | ABCA4 | c.3431C= (p.Pro1144=) c.-64-1211C= (n.-64-1211C=) | |
1 | g.94041300G>T | CA341290865 | ABCA4 | c.3431C>A (p.Pro1144Gln) c.-64-1211C>A (n.-64-1211C>A) | |
1 | g.94041301G>A | CA26863646 | ABCA4 | c.3430C>T (p.Pro1144Ser) c.-64-1212C>T (n.-64-1212C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94041301G>C | CA341290867 | ABCA4 | c.3430C>G (p.Pro1144Ala) c.-64-1212C>G (n.-64-1212C>G) | |
1 | g.94041301G= | CA1181420038 | ABCA4 | c.3430C= (p.Pro1144=) c.-64-1212C= (n.-64-1212C=) | |
1 | g.94041301G>T | CA341290869 | ABCA4 | c.3430C>A (p.Pro1144Thr) c.-64-1212C>A (n.-64-1212C>A) | |
1 | g.94041302G>A | CA418826305 | ABCA4 | c.3429C>T (p.Thr1143=) c.-64-1213C>T (n.-64-1213C>T) | ClinVar |
1 | g.94041302G>C | CA418826306 | ABCA4 | c.3429C>G (p.Thr1143=) c.-64-1213C>G (n.-64-1213C>G) | |
1 | g.94041302G>T | CA418826307 | ABCA4 | c.3429C>A (p.Thr1143=) c.-64-1213C>A (n.-64-1213C>A) | |
1 | g.94041303G>A | CA26863651 | ABCA4 | c.3428C>T (p.Thr1143Ile) c.-64-1214C>T (n.-64-1214C>T) | dbSNP gnomAD v4 |
1 | g.94041303G>C | CA341290879 | ABCA4 | c.3428C>G (p.Thr1143Ser) c.-64-1214C>G (n.-64-1214C>G) | |
1 | g.94041303G= | CA1181420039 | ABCA4 | c.3428C= (p.Thr1143=) c.-64-1214C= (n.-64-1214C=) | |
1 | g.94041303G>T | CA957940 | ABCA4 | c.3428C>A (p.Thr1143Asn) c.-64-1214C>A (n.-64-1214C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041304T>A | CA341290882 | ABCA4 | c.3427A>T (p.Thr1143Ser) c.-64-1215A>T (n.-64-1215A>T) | |
1 | g.94041304T>C | CA341290883 | ABCA4 | c.3427A>G (p.Thr1143Ala) c.-64-1215A>G (n.-64-1215A>G) | gnomAD v4 |
1 | g.94041304T>G | CA341290887 | ABCA4 | c.3427A>C (p.Thr1143Pro) c.-64-1215A>C (n.-64-1215A>C) | dbSNP |
1 | g.94041304T= | CA1181420040 | ABCA4 | c.3427A= (p.Thr1143=) c.-64-1215A= (n.-64-1215A=) | |
1 | g.94041304_94041305delinsTG | CA1181420041 | ABCA4 | c.3426_3427delinsCA (p.Gly1142=) c.-64-1216_-64-1215delinsCA (n.-64-1216_-64-1215delinsCA) | |
1 | g.94041305del | CA1181420042 | ABCA4 | c.3426del (p.Thr1143ProfsTer5) c.-64-1216del (n.-64-1216del) | dbSNP |
1 | g.94041305G>A | CA957941 | ABCA4 | c.3426C>T (p.Gly1142=) c.-64-1216C>T (n.-64-1216C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041305G>C | CA418826308 | ABCA4 | c.3426C>G (p.Gly1142=) c.-64-1216C>G (n.-64-1216C>G) | |
1 | g.94041305G= | CA1181420043 | ABCA4 | c.3426C= (p.Gly1142=) c.-64-1216C= (n.-64-1216C=) | |
1 | g.94041305G>T | CA418826309 | ABCA4 | c.3426C>A (p.Gly1142=) c.-64-1216C>A (n.-64-1216C>A) | |
1 | g.94041306C>A | CA341290891 | ABCA4 | c.3425G>T (p.Gly1142Val) c.-64-1217G>T (n.-64-1217G>T) | |
1 | g.94041306C>G | CA341290894 | ABCA4 | c.3425G>C (p.Gly1142Ala) c.-64-1217G>C (n.-64-1217G>C) | |
1 | g.94041306C>T | CA341290899 | ABCA4 | c.3425G>A (p.Gly1142Asp) c.-64-1217G>A (n.-64-1217G>A) | |
1 | g.94041307C>A | CA341290901 | ABCA4 | c.3424G>T (p.Gly1142Cys) c.-64-1218G>T (n.-64-1218G>T) | |
1 | g.94041307C>G | CA341290902 | ABCA4 | c.3424G>C (p.Gly1142Arg) c.-64-1218G>C (n.-64-1218G>C) | |
1 | g.94041307C>T | CA341290903 | ABCA4 | c.3424G>A (p.Gly1142Ser) c.-64-1218G>A (n.-64-1218G>A) | |
1 | g.94041308T>A | CA418826310 | ABCA4 | c.3423A>T (p.Ser1141=) c.-64-1219A>T (n.-64-1219A>T) | |
1 | g.94041308T>C | CA418826311 | ABCA4 | c.3423A>G (p.Ser1141=) c.-64-1219A>G (n.-64-1219A>G) | gnomAD v4 |
1 | g.94041308T>G | CA418826312 | ABCA4 | c.3423A>C (p.Ser1141=) c.-64-1219A>C (n.-64-1219A>C) | |
1 | g.94041309G>A | CA957942 | ABCA4 | c.3422C>T (p.Ser1141Leu) c.-64-1220C>T (n.-64-1220C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041309G>C | CA341290906 | ABCA4 | c.3422C>G (p.Ser1141Ter) c.-64-1220C>G (n.-64-1220C>G) | |
1 | g.94041309G= | CA1181420044 | ABCA4 | c.3422C= (p.Ser1141=) c.-64-1220C= (n.-64-1220C=) | |
1 | g.94041309G>T | CA341290905 | ABCA4 | c.3422C>A (p.Ser1141Ter) c.-64-1220C>A (n.-64-1220C>A) | |
1 | g.94041313_94041320del | CA2744617270 | ABCA4 | c.3415_3422del (p.Tyr1139ArgfsTer?) c.-64-1227_-64-1220del (n.-64-1227_-64-1220del) | |
1 | g.94041310A>C | CA341290909 | ABCA4 | c.3421T>G (p.Ser1141Ala) c.-64-1221T>G (n.-64-1221T>G) | |
1 | g.94041310A>G | CA341290910 | ABCA4 | c.3421T>C (p.Ser1141Pro) c.-64-1221T>C (n.-64-1221T>C) | gnomAD v4 |
1 | g.94041310A>T | CA341290911 | ABCA4 | c.3421T>A (p.Ser1141Thr) c.-64-1221T>A (n.-64-1221T>A) | |
1 | g.94041311G>A | CA418826313 | ABCA4 | c.3420C>T (p.Cys1140=) c.-64-1222C>T (n.-64-1222C>T) | |
1 | g.94041311G>C | CA341290912 | ABCA4 | c.3420C>G (p.Cys1140Trp) c.-64-1222C>G (n.-64-1222C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.94041311G>T | CA341290913 | ABCA4 | c.3420C>A (p.Cys1140Ter) c.-64-1222C>A (n.-64-1222C>A) | |
1 | g.94041312C>A | CA341290915 | ABCA4 | c.3419G>T (p.Cys1140Phe) c.-64-1223G>T (n.-64-1223G>T) | |
1 | g.94041312C>G | CA341290917 | ABCA4 | c.3419G>C (p.Cys1140Ser) c.-64-1223G>C (n.-64-1223G>C) | |
1 | g.94041312C>T | CA341290919 | ABCA4 | c.3419G>A (p.Cys1140Tyr) c.-64-1223G>A (n.-64-1223G>A) | |
1 | g.94041313A>C | CA341290920 | ABCA4 | c.3418T>G (p.Cys1140Gly) c.-64-1224T>G (n.-64-1224T>G) | gnomAD v4 |
1 | g.94041313A>G | CA341290923 | ABCA4 | c.3418T>C (p.Cys1140Arg) c.-64-1224T>C (n.-64-1224T>C) | |
1 | g.94041313A>T | CA341290926 | ABCA4 | c.3418T>A (p.Cys1140Ser) c.-64-1224T>A (n.-64-1224T>A) | |
1 | g.94041314G>A | CA418826314 | ABCA4 | c.3417C>T (p.Tyr1139=) c.-64-1225C>T (n.-64-1225C>T) | gnomAD v4 |
1 | g.94041314G>C | CA341290928 | ABCA4 | c.3417C>G (p.Tyr1139Ter) c.-64-1225C>G (n.-64-1225C>G) | |
1 | g.94041314G>T | CA341290930 | ABCA4 | c.3417C>A (p.Tyr1139Ter) c.-64-1225C>A (n.-64-1225C>A) | |
1 | g.94041315T>A | CA341290934 | ABCA4 | c.3416A>T (p.Tyr1139Phe) c.-64-1226A>T (n.-64-1226A>T) | |
1 | g.94041315T>C | CA957943 | ABCA4 | c.3416A>G (p.Tyr1139Cys) c.-64-1226A>G (n.-64-1226A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041315T>G | CA341290933 | ABCA4 | c.3416A>C (p.Tyr1139Ser) c.-64-1226A>C (n.-64-1226A>C) | |
1 | g.94041315T= | CA1142393041 | ABCA4 | c.3416A= (p.Tyr1139=) c.-64-1226A= (n.-64-1226A=) | |
1 | g.94041316A>C | CA341290935 | ABCA4 | c.3415T>G (p.Tyr1139Asp) c.-64-1227T>G (n.-64-1227T>G) | ClinVar dbSNP |
1 | g.94041316A>G | CA341290936 | ABCA4 | c.3415T>C (p.Tyr1139His) c.-64-1227T>C (n.-64-1227T>C) | gnomAD v4 |
1 | g.94041316A>T | CA341290938 | ABCA4 | c.3415T>A (p.Tyr1139Asn) c.-64-1227T>A (n.-64-1227T>A) | |
1 | g.94041317G>A | CA418826315 | ABCA4 | c.3414C>T (p.Leu1138=) c.-64-1228C>T (n.-64-1228C>T) | |
1 | g.94041317G>C | CA26863668 | ABCA4 | c.3414C>G (p.Leu1138=) c.-64-1228C>G (n.-64-1228C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041317G= | CA1181420045 | ABCA4 | c.3414C= (p.Leu1138=) c.-64-1228C= (n.-64-1228C=) | |
1 | g.94041317G>T | CA418826316 | ABCA4 | c.3414C>A (p.Leu1138=) c.-64-1228C>A (n.-64-1228C>A) | gnomAD v4 |
1 | g.94041318A= | CA1181420046 | ABCA4 | c.3413T= (p.Leu1138=) c.-64-1229T= (n.-64-1229T=) | |
1 | g.94041318A>C | CA341290941 | ABCA4 | c.3413T>G (p.Leu1138Arg) c.-64-1229T>G (n.-64-1229T>G) | |
1 | g.94041318A>G | CA341290944 | ABCA4 | c.3413T>C (p.Leu1138Pro) c.-64-1229T>C (n.-64-1229T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041318A>T | CA341290946 | ABCA4 | c.3413T>A (p.Leu1138His) c.-64-1229T>A (n.-64-1229T>A) | ClinVar dbSNP gnomAD v4 |
1 | g.94041319G>A | CA341290948 | ABCA4 | c.3412C>T (p.Leu1138Phe) c.-64-1230C>T (n.-64-1230C>T) | ClinVar gnomAD v4 |
1 | g.94041319G>C | CA341290951 | ABCA4 | c.3412C>G (p.Leu1138Val) c.-64-1230C>G (n.-64-1230C>G) | gnomAD v4 |
1 | g.94041319G>T | CA341290952 | ABCA4 | c.3412C>A (p.Leu1138Ile) c.-64-1230C>A (n.-64-1230C>A) | |
1 | g.94041320C>A | CA341290955 | ABCA4 | c.3411G>T (p.Arg1137Ser) c.-64-1231G>T (n.-64-1231G>T) | |
1 | g.94041320C>G | CA341290957 | ABCA4 | c.3411G>C (p.Arg1137Ser) c.-64-1231G>C (n.-64-1231G>C) | |
1 | g.94041320C>T | CA418826317 | ABCA4 | c.3411G>A (p.Arg1137=) c.-64-1231G>A (n.-64-1231G>A) | ClinVar gnomAD v4 |
1 | g.94041321C>A | CA341290966 | ABCA4 | c.3410G>T (p.Arg1137Met) c.-64-1232G>T (n.-64-1232G>T) | |
1 | g.94041321C= | CA1181420047 | ABCA4 | c.3410G= (p.Arg1137=) c.-64-1232G= (n.-64-1232G=) | |
1 | g.94041321C>G | CA341290964 | ABCA4 | c.3410G>C (p.Arg1137Thr) c.-64-1232G>C (n.-64-1232G>C) | |
1 | g.94041321C>T | CA341290960 | ABCA4 | c.3410G>A (p.Arg1137Lys) c.-64-1232G>A (n.-64-1232G>A) | dbSNP |
1 | g.94041322T>A | CA341290968 | ABCA4 | c.3409A>T (p.Arg1137Trp) c.-64-1233A>T (n.-64-1233A>T) | |
1 | g.94041322T>C | CA26863669 | ABCA4 | c.3409A>G (p.Arg1137Gly) c.-64-1233A>G (n.-64-1233A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041322T>G | CA418826318 | ABCA4 | c.3409A>C (p.Arg1137=) c.-64-1233A>C (n.-64-1233A>C) | |
1 | g.94041322T= | CA1181420048 | ABCA4 | c.3409A= (p.Arg1137=) c.-64-1233A= (n.-64-1233A=) | |
1 | g.94041323T>A | CA418826319 | ABCA4 | c.3408A>T (p.Gly1136=) c.-64-1234A>T (n.-64-1234A>T) | |
1 | g.94041323T>C | CA418826320 | ABCA4 | c.3408A>G (p.Gly1136=) c.-64-1234A>G (n.-64-1234A>G) | |
1 | g.94041323T>G | CA418826321 | ABCA4 | c.3408A>C (p.Gly1136=) c.-64-1234A>C (n.-64-1234A>C) | |
1 | g.94041324C>A | CA341290973 | ABCA4 | c.3407G>T (p.Gly1136Val) c.-64-1235G>T (n.-64-1235G>T) | ClinVar dbSNP |
1 | g.94041324C= | CA1181420049 | ABCA4 | c.3407G= (p.Gly1136=) c.-64-1235G= (n.-64-1235G=) | |
1 | g.94041324C>G | CA341290981 | ABCA4 | c.3407G>C (p.Gly1136Ala) c.-64-1235G>C (n.-64-1235G>C) | |
1 | g.94041324C>T | CA341290977 | ABCA4 | c.3407G>A (p.Gly1136Glu) c.-64-1235G>A (n.-64-1235G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.94041325C>A | CA341290984 | ABCA4 | c.3406G>T (p.Gly1136Ter) c.-64-1236G>T (n.-64-1236G>T) | COSMIC |
1 | g.94041325C>G | CA341290987 | ABCA4 | c.3406G>C (p.Gly1136Arg) c.-64-1236G>C (n.-64-1236G>C) | |
1 | g.94041325C>T | CA341290986 | ABCA4 | c.3406G>A (p.Gly1136Arg) c.-64-1236G>A (n.-64-1236G>A) | gnomAD v4 COSMIC |
1 | g.94041326C>A | CA341290988 | ABCA4 | c.3405G>T (p.Gln1135His) c.-64-1237G>T (n.-64-1237G>T) | |
1 | g.94041326C>G | CA341290989 | ABCA4 | c.3405G>C (p.Gln1135His) c.-64-1237G>C (n.-64-1237G>C) | |
1 | g.94041326C>T | CA418826322 | ABCA4 | c.3405G>A (p.Gln1135=) c.-64-1237G>A (n.-64-1237G>A) | |
1 | g.94041327T>A | CA341290990 | ABCA4 | c.3404A>T (p.Gln1135Leu) c.-64-1238A>T (n.-64-1238A>T) | |
1 | g.94041327T>C | CA341290992 | ABCA4 | c.3404A>G (p.Gln1135Arg) c.-64-1238A>G (n.-64-1238A>G) | |
1 | g.94041327T>G | CA341290993 | ABCA4 | c.3404A>C (p.Gln1135Pro) c.-64-1238A>C (n.-64-1238A>C) | |
1 | g.94041328G>A | CA16042404 | ABCA4 | c.3403C>T (p.Gln1135Ter) c.-64-1239C>T (n.-64-1239C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041328G>C | CA341290998 | ABCA4 | c.3403C>G (p.Gln1135Glu) c.-64-1239C>G (n.-64-1239C>G) | |
1 | g.94041328G= | CA1181420050 | ABCA4 | c.3403C= (p.Gln1135=) c.-64-1239C= (n.-64-1239C=) | |
1 | g.94041328G>T | CA341290999 | ABCA4 | c.3403C>A (p.Gln1135Lys) c.-64-1239C>A (n.-64-1239C>A) | |
1 | g.94041329G>A | CA418826323 | ABCA4 | c.3402C>T (p.Ala1134=) c.-64-1240C>T (n.-64-1240C>T) | |
1 | g.94041329G>C | CA418826324 | ABCA4 | c.3402C>G (p.Ala1134=) c.-64-1240C>G (n.-64-1240C>G) | |
1 | g.94041329G>T | CA418826325 | ABCA4 | c.3402C>A (p.Ala1134=) c.-64-1240C>A (n.-64-1240C>A) | |
1 | g.94041330G>A | CA341291001 | ABCA4 | c.3401C>T (p.Ala1134Val) c.-64-1241C>T (n.-64-1241C>T) | gnomAD v4 |
1 | g.94041330G>C | CA341291003 | ABCA4 | c.3401C>G (p.Ala1134Gly) c.-64-1241C>G (n.-64-1241C>G) | |
1 | g.94041330G= | CA1181420051 | ABCA4 | c.3401C= (p.Ala1134=) c.-64-1241C= (n.-64-1241C=) | |
1 | g.94041330G>T | CA957944 | ABCA4 | c.3401C>A (p.Ala1134Asp) c.-64-1241C>A (n.-64-1241C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041331C>A | CA341291007 | ABCA4 | c.3400G>T (p.Ala1134Ser) c.-64-1242G>T (n.-64-1242G>T) | |
1 | g.94041331C>G | CA341291008 | ABCA4 | c.3400G>C (p.Ala1134Pro) c.-64-1242G>C (n.-64-1242G>C) | |
1 | g.94041331C>T | CA341291010 | ABCA4 | c.3400G>A (p.Ala1134Thr) c.-64-1242G>A (n.-64-1242G>A) | gnomAD v4 |
1 | g.94041332A= | CA1145364808 | ABCA4 | c.3399T= (p.Ile1133=) c.-64-1243T= (n.-64-1243T=) | |
1 | g.94041332A>C | CA341291013 | ABCA4 | c.3399T>G (p.Ile1133Met) c.-64-1243T>G (n.-64-1243T>G) | |
1 | g.94041332A>G | CA26863696 | ABCA4 | c.3399T>C (p.Ile1133=) c.-64-1243T>C (n.-64-1243T>C) | dbSNP |
1 | g.94041332A>T | CA418826326 | ABCA4 | c.3399T>A (p.Ile1133=) c.-64-1243T>A (n.-64-1243T>A) | |
1 | g.94041333A= | CA1181420052 | ABCA4 | c.3398T= (p.Ile1133=) c.-64-1244T= (n.-64-1244T=) | |
1 | g.94041333A>C | CA341291016 | ABCA4 | c.3398T>G (p.Ile1133Ser) c.-64-1244T>G (n.-64-1244T>G) | |
1 | g.94041333A>G | CA341291026 | ABCA4 | c.3398T>C (p.Ile1133Thr) c.-64-1244T>C (n.-64-1244T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94041333A>T | CA341291028 | ABCA4 | c.3398T>A (p.Ile1133Asn) c.-64-1244T>A (n.-64-1244T>A) | |
1 | g.94041334T>A | CA341291031 | ABCA4 | c.3397A>T (p.Ile1133Phe) c.-64-1245A>T (n.-64-1245A>T) | |
1 | g.94041334T>C | CA341291034 | ABCA4 | c.3397A>G (p.Ile1133Val) c.-64-1245A>G (n.-64-1245A>G) | |
1 | g.94041334T>G | CA341291036 | ABCA4 | c.3397A>C (p.Ile1133Leu) c.-64-1245A>C (n.-64-1245A>C) | |
1 | g.94041335G>A | CA418826327 | ABCA4 | c.3396C>T (p.Ile1132=) c.-64-1246C>T (n.-64-1246C>T) | |
1 | g.94041335G>C | CA341291037 | ABCA4 | c.3396C>G (p.Ile1132Met) c.-64-1246C>G (n.-64-1246C>G) | |
1 | g.94041335G>T | CA418826328 | ABCA4 | c.3396C>A (p.Ile1132=) c.-64-1246C>A (n.-64-1246C>A) | |
1 | g.94041336A>C | CA341291040 | ABCA4 | c.3395T>G (p.Ile1132Ser) c.-64-1247T>G (n.-64-1247T>G) | |
1 | g.94041336A>G | CA341291045 | ABCA4 | c.3395T>C (p.Ile1132Thr) c.-64-1247T>C (n.-64-1247T>C) | ClinVar |
1 | g.94041336A>T | CA341291047 | ABCA4 | c.3395T>A (p.Ile1132Asn) c.-64-1247T>A (n.-64-1247T>A) | |
1 | g.94041337T>A | CA341291052 | ABCA4 | c.3394A>T (p.Ile1132Phe) c.-64-1248A>T (n.-64-1248A>T) | |
1 | g.94041337T>C | CA341291054 | ABCA4 | c.3394A>G (p.Ile1132Val) c.-64-1248A>G (n.-64-1248A>G) | |
1 | g.94041337T>G | CA341291057 | ABCA4 | c.3394A>C (p.Ile1132Leu) c.-64-1248A>C (n.-64-1248A>C) | |
1 | g.94041337_94041338delinsTG | CA1181420053 | ABCA4 | c.3393_3394delinsCA (p.Ala1131=) c.-64-1249_-64-1248delinsCA (n.-64-1249_-64-1248delinsCA) | |
1 | g.94041338G>A | CA418826329 | ABCA4 | c.3393C>T (p.Ala1131=) c.-64-1249C>T (n.-64-1249C>T) | |
1 | g.94041338G>C | CA418826330 | ABCA4 | c.3393C>G (p.Ala1131=) c.-64-1249C>G (n.-64-1249C>G) | |
1 | g.94041338G>T | CA418826331 | ABCA4 | c.3393C>A (p.Ala1131=) c.-64-1249C>A (n.-64-1249C>A) | |
1 | g.94041338_94041339delinsC | CA645372188 | ABCA4 | c.3392_3393delinsG (p.Ala1131GlyfsTer17) c.-64-1250_-64-1249delinsG (n.-64-1250_-64-1249delinsG) | ClinVar |
1 | g.94041338_94041339delinsGG | CA1140725844 | ABCA4 | c.3392_3393delinsCC (p.Ala1131=) c.-64-1250_-64-1249delinsCC (n.-64-1250_-64-1249delinsCC) | |
1 | g.94041339del | CA227117 | ABCA4 | c.3393del (p.Ile1132SerfsTer16) c.-64-1249del (n.-64-1249del) | ClinVar dbSNP |
1 | g.94041339G>A | CA341291068 | ABCA4 | c.3392C>T (p.Ala1131Val) c.-64-1250C>T (n.-64-1250C>T) | dbSNP gnomAD v4 |
1 | g.94041339G>C | CA341291063 | ABCA4 | c.3392C>G (p.Ala1131Gly) c.-64-1250C>G (n.-64-1250C>G) | |
1 | g.94041339G= | CA1181420054 | ABCA4 | c.3392C= (p.Ala1131=) c.-64-1250C= (n.-64-1250C=) | |
1 | g.94041339G>T | CA341291066 | ABCA4 | c.3392C>A (p.Ala1131Asp) c.-64-1250C>A (n.-64-1250C>A) | |
1 | g.94041340C>A | CA341291077 | ABCA4 | c.3391G>T (p.Ala1131Ser) c.-64-1251G>T (n.-64-1251G>T) | |
1 | g.94041340C>G | CA341291072 | ABCA4 | c.3391G>C (p.Ala1131Pro) c.-64-1251G>C (n.-64-1251G>C) | |
1 | g.94041340C>T | CA341291074 | ABCA4 | c.3391G>A (p.Ala1131Thr) c.-64-1251G>A (n.-64-1251G>A) | |
1 | g.94041341A>C | CA341291078 | ABCA4 | c.3390T>G (p.Ile1130Met) c.-64-1252T>G (n.-64-1252T>G) | |
1 | g.94041341A>G | CA418826332 | ABCA4 | c.3390T>C (p.Ile1130=) c.-64-1252T>C (n.-64-1252T>C) | |
1 | g.94041341A>T | CA418826333 | ABCA4 | c.3390T>A (p.Ile1130=) c.-64-1252T>A (n.-64-1252T>A) | gnomAD v4 |
1 | g.94041342A= | CA1181420055 | ABCA4 | c.3389T= (p.Ile1130=) c.-64-1253T= (n.-64-1253T=) | |
1 | g.94041342A>C | CA341291080 | ABCA4 | c.3389T>G (p.Ile1130Ser) c.-64-1253T>G (n.-64-1253T>G) | |
1 | g.94041342A>G | CA16617206 | ABCA4 | c.3389T>C (p.Ile1130Thr) c.-64-1253T>C (n.-64-1253T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94041342A>T | CA341291083 | ABCA4 | c.3389T>A (p.Ile1130Asn) c.-64-1253T>A (n.-64-1253T>A) | |
1 | g.94041343T>A | CA341291084 | ABCA4 | c.3388A>T (p.Ile1130Phe) c.-64-1254A>T (n.-64-1254A>T) | |
1 | g.94041343T>C | CA341291086 | ABCA4 | c.3388A>G (p.Ile1130Val) c.-64-1254A>G (n.-64-1254A>G) | |
1 | g.94041343T>G | CA341291088 | ABCA4 | c.3388A>C (p.Ile1130Leu) c.-64-1254A>C (n.-64-1254A>C) | gnomAD v4 |
1 | g.94041344G>A | CA418826334 | ABCA4 | c.3387C>T (p.Arg1129=) c.-64-1255C>T (n.-64-1255C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94041344G>C | CA418826335 | ABCA4 | c.3387C>G (p.Arg1129=) c.-64-1255C>G (n.-64-1255C>G) | |
1 | g.94041344G= | CA1181420056 | ABCA4 | c.3387C= (p.Arg1129=) c.-64-1255C= (n.-64-1255C=) | |
1 | g.94041344G>T | CA418826336 | ABCA4 | c.3387C>A (p.Arg1129=) c.-64-1255C>A (n.-64-1255C>A) | |
1 | g.94041345C>A | CA227116 | ABCA4 | c.3386G>T (p.Arg1129Leu) c.-64-1256G>T (n.-64-1256G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041345C= | CA1139894808 | ABCA4 | c.3386G= (p.Arg1129=) c.-64-1256G= (n.-64-1256G=) | |
1 | g.94041345C>G | CA341291092 | ABCA4 | c.3386G>C (p.Arg1129Pro) c.-64-1256G>C (n.-64-1256G>C) | |
1 | g.94041345C>T | CA341291094 | ABCA4 | c.3386G>A (p.Arg1129His) c.-64-1256G>A (n.-64-1256G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041346G>A | CA957945 | ABCA4 | c.3385C>T (p.Arg1129Cys) c.-64-1257C>T (n.-64-1257C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041346G>C | CA341291096 | ABCA4 | c.3385C>G (p.Arg1129Gly) c.-64-1257C>G (n.-64-1257C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.94041346G= | CA1181420057 | ABCA4 | c.3385C= (p.Arg1129=) c.-64-1257C= (n.-64-1257C=) | |
1 | g.94041346G>T | CA957946 | ABCA4 | c.3385C>A (p.Arg1129Ser) c.-64-1257C>A (n.-64-1257C>A) | dbSNP ExAC gnomAD v2 |
1 | g.94041347G>A | CA418826337 | ABCA4 | c.3384C>T (p.Asp1128=) c.-64-1258C>T (n.-64-1258C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94041347G>C | CA957947 | ABCA4 | c.3384C>G (p.Asp1128Glu) c.-64-1258C>G (n.-64-1258C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041347G= | CA1143695145 | ABCA4 | c.3384C= (p.Asp1128=) c.-64-1258C= (n.-64-1258C=) | |
1 | g.94041347G>T | CA341291106 | ABCA4 | c.3384C>A (p.Asp1128Glu) c.-64-1258C>A (n.-64-1258C>A) | ClinVar |
1 | g.94041348T>A | CA341291109 | ABCA4 | c.3383A>T (p.Asp1128Val) c.-64-1259A>T (n.-64-1259A>T) | |
1 | g.94041348T>C | CA341291111 | ABCA4 | c.3383A>G (p.Asp1128Gly) c.-64-1259A>G (n.-64-1259A>G) | ClinVar dbSNP |
1 | g.94041348T>G | CA341291113 | ABCA4 | c.3383A>C (p.Asp1128Ala) c.-64-1259A>C (n.-64-1259A>C) | |
1 | g.94041348T= | CA1181420058 | ABCA4 | c.3383A= (p.Asp1128=) c.-64-1259A= (n.-64-1259A=) | |
1 | g.94041349C>A | CA341291116 | ABCA4 | c.3382G>T (p.Asp1128Tyr) c.-64-1260G>T (n.-64-1260G>T) | |
1 | g.94041349C= | CA1181420059 | ABCA4 | c.3382G= (p.Asp1128=) c.-64-1260G= (n.-64-1260G=) | |
1 | g.94041349C>G | CA341291118 | ABCA4 | c.3382G>C (p.Asp1128His) c.-64-1260G>C (n.-64-1260G>C) | |
1 | g.94041349C>T | CA957948 | ABCA4 | c.3382G>A (p.Asp1128Asn) c.-64-1260G>A (n.-64-1260G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94041350C>A | CA418826340 | ABCA4 | c.3381G>T (p.Gly1127=) c.-64-1261G>T (n.-64-1261G>T) | |
1 | g.94041350C>G | CA418826339 | ABCA4 | c.3381G>C (p.Gly1127=) c.-64-1261G>C (n.-64-1261G>C) | |
1 | g.94041350C>T | CA418826338 | ABCA4 | c.3381G>A (p.Gly1127=) c.-64-1261G>A (n.-64-1261G>A) | COSMIC |
1 | g.94041351C>A | CA341291122 | ABCA4 | c.3380G>T (p.Gly1127Val) c.-64-1262G>T (n.-64-1262G>T) | |
1 | g.94041351C= | CA1181420060 | ABCA4 | c.3380G= (p.Gly1127=) c.-64-1262G= (n.-64-1262G=) | |
1 | g.94041351C>G | CA341291125 | ABCA4 | c.3380G>C (p.Gly1127Ala) c.-64-1262G>C (n.-64-1262G>C) | |
1 | g.94041351C>T | CA341291128 | ABCA4 | c.3380G>A (p.Gly1127Glu) c.-64-1262G>A (n.-64-1262G>A) | ClinVar dbSNP |
1 | g.94041352C>A | CA341291140 | ABCA4 | c.3379G>T (p.Gly1127Trp) c.-64-1263G>T (n.-64-1263G>T) | |
1 | g.94041352C= | CA1181420061 | ABCA4 | c.3379G= (p.Gly1127=) c.-64-1263G= (n.-64-1263G=) | |
1 | g.94041352C>G | CA341291144 | ABCA4 | c.3379G>C (p.Gly1127Arg) c.-64-1263G>C (n.-64-1263G>C) | |
1 | g.94041352C>T | CA341291137 | ABCA4 | c.3379G>A (p.Gly1127Arg) c.-64-1263G>A (n.-64-1263G>A) | ClinVar dbSNP |
1 | g.94041353A= | CA1139849090 | ABCA4 | c.3378T= (p.Leu1126=) c.-64-1264T= (n.-64-1264T=) | |
1 | g.94041353A>C | CA418826341 | ABCA4 | c.3378T>G (p.Leu1126=) c.-64-1264T>G (n.-64-1264T>G) | |
1 | g.94041353A>G | CA418826342 | ABCA4 | c.3378T>C (p.Leu1126=) c.-64-1264T>C (n.-64-1264T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.94041353A>T | CA26863749 | ABCA4 | c.3378T>A (p.Leu1126=) c.-64-1264T>A (n.-64-1264T>A) | dbSNP |
1 | g.94041354A= | CA1139849091 | ABCA4 | c.3377T= (p.Leu1126=) c.-64-1265T= (n.-64-1265T=) | |
1 | g.94041354A>C | CA341291153 | ABCA4 | c.3377T>G (p.Leu1126Arg) c.-64-1265T>G (n.-64-1265T>G) | |
1 | g.94041354A>G | CA10602437 | ABCA4 | c.3377T>C (p.Leu1126Pro) c.-64-1265T>C (n.-64-1265T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94041354A>T | CA26863766 | ABCA4 | c.3377T>A (p.Leu1126His) c.-64-1265T>A (n.-64-1265T>A) | dbSNP |
1 | g.94041355G>A | CA341291156 | ABCA4 | c.3376C>T (p.Leu1126Phe) c.-64-1266C>T (n.-64-1266C>T) | |
1 | g.94041355G>C | CA341291159 | ABCA4 | c.3376C>G (p.Leu1126Val) c.-64-1266C>G (n.-64-1266C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.94041355G= | CA1181420062 | ABCA4 | c.3376C= (p.Leu1126=) c.-64-1266C= (n.-64-1266C=) | |
1 | g.94041355G>T | CA341291161 | ABCA4 | c.3376C>A (p.Leu1126Ile) c.-64-1266C>A (n.-64-1266C>A) | |
1 | g.94041356G>A | CA418826343 | ABCA4 | c.3375C>T (p.Leu1125=) c.-64-1267C>T (n.-64-1267C>T) | gnomAD v4 |
1 | g.94041356G>C | CA418826344 | ABCA4 | c.3375C>G (p.Leu1125=) c.-64-1267C>G (n.-64-1267C>G) | |
1 | g.94041356G>T | CA418826345 | ABCA4 | c.3375C>A (p.Leu1125=) c.-64-1267C>A (n.-64-1267C>A) | |
1 | g.94041357A= | CA1139849092 | ABCA4 | c.3374T= (p.Leu1125=) c.-64-1268T= (n.-64-1268T=) | |
1 | g.94041357A>C | CA341291165 | ABCA4 | c.3374T>G (p.Leu1125Arg) c.-64-1268T>G (n.-64-1268T>G) | |
1 | g.94041357A>G | CA341291167 | ABCA4 | c.3374T>C (p.Leu1125Pro) c.-64-1268T>C (n.-64-1268T>C) | |
1 | g.94041357A>T | CA26863767 | ABCA4 | c.3374T>A (p.Leu1125His) c.-64-1268T>A (n.-64-1268T>A) | dbSNP |
1 | g.94041358G>A | CA341291172 | ABCA4 | c.3373C>T (p.Leu1125Phe) c.-64-1269C>T (n.-64-1269C>T) | |
1 | g.94041358G>C | CA341291174 | ABCA4 | c.3373C>G (p.Leu1125Val) c.-64-1269C>G (n.-64-1269C>G) | |
1 | g.94041358G>T | CA341291175 | ABCA4 | c.3373C>A (p.Leu1125Ile) c.-64-1269C>A (n.-64-1269C>A) | |
1 | g.94041359G>A | CA418826346 | ABCA4 | c.3372C>T (p.Asp1124=) c.-64-1270C>T (n.-64-1270C>T) | gnomAD v4 |
1 | g.94041359G>C | CA957949 | ABCA4 | c.3372C>G (p.Asp1124Glu) c.-64-1270C>G (n.-64-1270C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041359G= | CA1148402329 | ABCA4 | c.3372C= (p.Asp1124=) c.-64-1270C= (n.-64-1270C=) | |
1 | g.94041359G>T | CA341291177 | ABCA4 | c.3372C>A (p.Asp1124Glu) c.-64-1270C>A (n.-64-1270C>A) | |
1 | g.94041360T>A | CA341291180 | ABCA4 | c.3371A>T (p.Asp1124Val) c.-64-1271A>T (n.-64-1271A>T) | |
1 | g.94041360T>C | CA341291184 | ABCA4 | c.3371A>G (p.Asp1124Gly) c.-64-1271A>G (n.-64-1271A>G) | ClinVar dbSNP gnomAD v4 |
1 | g.94041360T>G | CA341291183 | ABCA4 | c.3371A>C (p.Asp1124Ala) c.-64-1271A>C (n.-64-1271A>C) | |
1 | g.94041360T= | CA1181420063 | ABCA4 | c.3371A= (p.Asp1124=) c.-64-1271A= (n.-64-1271A=) | |
1 | g.94041361C>A | CA341291187 | ABCA4 | c.3370G>T (p.Asp1124Tyr) c.-64-1272G>T (n.-64-1272G>T) | gnomAD v4 |
1 | g.94041361C= | CA1181420064 | ABCA4 | c.3370G= (p.Asp1124=) c.-64-1272G= (n.-64-1272G=) | |
1 | g.94041361C>G | CA341291189 | ABCA4 | c.3370G>C (p.Asp1124His) c.-64-1272G>C (n.-64-1272G>C) | |
1 | g.94041361C>T | CA957950 | ABCA4 | c.3370G>A (p.Asp1124Asn) c.-64-1272G>A (n.-64-1272G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041362G>A | CA26863776 | ABCA4 | c.3369C>T (p.Ala1123=) c.-64-1273C>T (n.-64-1273C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041362G>C | CA418826347 | ABCA4 | c.3369C>G (p.Ala1123=) c.-64-1273C>G (n.-64-1273C>G) | |
1 | g.94041362G= | CA1144018283 | ABCA4 | c.3369C= (p.Ala1123=) c.-64-1273C= (n.-64-1273C=) | |
1 | g.94041362G>T | CA418826348 | ABCA4 | c.3369C>A (p.Ala1123=) c.-64-1273C>A (n.-64-1273C>A) | gnomAD v4 |
1 | g.94041363G>A | CA341291193 | ABCA4 | c.3368C>T (p.Ala1123Val) c.-64-1274C>T (n.-64-1274C>T) | |
1 | g.94041363G>C | CA341291194 | ABCA4 | c.3368C>G (p.Ala1123Gly) c.-64-1274C>G (n.-64-1274C>G) | |
1 | g.94041363G>T | CA341291195 | ABCA4 | c.3368C>A (p.Ala1123Asp) c.-64-1274C>A (n.-64-1274C>A) | |
1 | g.94041364C>A | CA341291199 | ABCA4 | c.3367G>T (p.Ala1123Ser) c.-64-1275G>T (n.-64-1275G>T) | |
1 | g.94041364C>G | CA341291200 | ABCA4 | c.3367G>C (p.Ala1123Pro) c.-64-1275G>C (n.-64-1275G>C) | |
1 | g.94041364C>T | CA341291202 | ABCA4 | c.3367G>A (p.Ala1123Thr) c.-64-1275G>A (n.-64-1275G>A) | |
1 | g.94041365C>A | CA341291204 | ABCA4 | c.3366G>T (p.Glu1122Asp) c.-64-1276G>T (n.-64-1276G>T) | |
1 | g.94041365C= | CA1140725845 | ABCA4 | c.3366G= (p.Glu1122=) c.-64-1276G= (n.-64-1276G=) | |
1 | g.94041365C>G | CA227114 | ABCA4 | c.3366G>C (p.Glu1122Asp) c.-64-1276G>C (n.-64-1276G>C) | ClinVar dbSNP |
1 | g.94041365C>T | CA418826349 | ABCA4 | c.3366G>A (p.Glu1122=) c.-64-1276G>A (n.-64-1276G>A) | gnomAD v4 |
1 | g.94041366T>A | CA341291207 | ABCA4 | c.3365A>T (p.Glu1122Val) c.-64-1277A>T (n.-64-1277A>T) | |
1 | g.94041366T>C | CA341291209 | ABCA4 | c.3365A>G (p.Glu1122Gly) c.-64-1277A>G (n.-64-1277A>G) | |
1 | g.94041366T>G | CA341291212 | ABCA4 | c.3365A>C (p.Glu1122Ala) c.-64-1277A>C (n.-64-1277A>C) | |
1 | g.94041367C>A | CA341291213 | ABCA4 | c.3364G>T (p.Glu1122Ter) c.-64-1278G>T (n.-64-1278G>T) | |
1 | g.94041367C= | CA1140725846 | ABCA4 | c.3364G= (p.Glu1122=) c.-64-1278G= (n.-64-1278G=) | |
1 | g.94041367C>G | CA341291215 | ABCA4 | c.3364G>C (p.Glu1122Gln) c.-64-1278G>C (n.-64-1278G>C) | |
1 | g.94041367C>T | CA227113 | ABCA4 | c.3364G>A (p.Glu1122Lys) c.-64-1278G>A (n.-64-1278G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041368G>A | CA957951 | ABCA4 | c.3363C>T (p.Asp1121=) c.-64-1279C>T (n.-64-1279C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041368G>C | CA341291217 | ABCA4 | c.3363C>G (p.Asp1121Glu) c.-64-1279C>G (n.-64-1279C>G) | |
1 | g.94041368G= | CA1142096107 | ABCA4 | c.3363C= (p.Asp1121=) c.-64-1279C= (n.-64-1279C=) | |
1 | g.94041368G>T | CA957952 | ABCA4 | c.3363C>A (p.Asp1121Glu) c.-64-1279C>A (n.-64-1279C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041370_94041375del | CA2739272727 | ABCA4 | c.3358_3363del (p.Met1120_Asp1121del) c.-64-1284_-64-1279del (n.-64-1284_-64-1279del) | ClinVar |
1 | g.94041369T>A | CA341291222 | ABCA4 | c.3362A>T (p.Asp1121Val) c.-64-1280A>T (n.-64-1280A>T) | |
1 | g.94041369T>C | CA341291224 | ABCA4 | c.3362A>G (p.Asp1121Gly) c.-64-1280A>G (n.-64-1280A>G) | |
1 | g.94041369T>G | CA341291227 | ABCA4 | c.3362A>C (p.Asp1121Ala) c.-64-1280A>C (n.-64-1280A>C) | |
1 | g.94041370C>A | CA341291232 | ABCA4 | c.3361G>T (p.Asp1121Tyr) c.-64-1281G>T (n.-64-1281G>T) | |
1 | g.94041370C>G | CA341291228 | ABCA4 | c.3361G>C (p.Asp1121His) c.-64-1281G>C (n.-64-1281G>C) | ClinVar dbSNP gnomAD v4 |
1 | g.94041370C>T | CA341291230 | ABCA4 | c.3361G>A (p.Asp1121Asn) c.-64-1281G>A (n.-64-1281G>A) | gnomAD v4 |
1 | g.94041371C>A | CA341291236 | ABCA4 | c.3360G>T (p.Met1120Ile) c.-64-1282G>T (n.-64-1282G>T) | |
1 | g.94041371C>G | CA341291237 | ABCA4 | c.3360G>C (p.Met1120Ile) c.-64-1282G>C (n.-64-1282G>C) | |
1 | g.94041371C>T | CA341291239 | ABCA4 | c.3360G>A (p.Met1120Ile) c.-64-1282G>A (n.-64-1282G>A) | gnomAD v4 |
1 | g.94041372A= | CA1144152624 | ABCA4 | c.3359T= (p.Met1120=) c.-64-1283T= (n.-64-1283T=) | |
1 | g.94041372A>C | CA341291242 | ABCA4 | c.3359T>G (p.Met1120Arg) c.-64-1283T>G (n.-64-1283T>G) | |
1 | g.94041372A>G | CA957953 | ABCA4 | c.3359T>C (p.Met1120Thr) c.-64-1283T>C (n.-64-1283T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041372A>T | CA341291246 | ABCA4 | c.3359T>A (p.Met1120Lys) c.-64-1283T>A (n.-64-1283T>A) | dbSNP |
1 | g.94041373T>A | CA341291249 | ABCA4 | c.3358A>T (p.Met1120Leu) c.-64-1284A>T (n.-64-1284A>T) | |
1 | g.94041373T>C | CA341291250 | ABCA4 | c.3358A>G (p.Met1120Val) c.-64-1284A>G (n.-64-1284A>G) | |
1 | g.94041373T>G | CA341291253 | ABCA4 | c.3358A>C (p.Met1120Leu) c.-64-1284A>C (n.-64-1284A>C) | |
1 | g.94041374G>A | CA26863800 | ABCA4 | c.3357C>T (p.His1119=) c.-64-1285C>T (n.-64-1285C>T) | dbSNP gnomAD v4 |
1 | g.94041374G>C | CA341291256 | ABCA4 | c.3357C>G (p.His1119Gln) c.-64-1285C>G (n.-64-1285C>G) | ClinVar |
1 | g.94041374G= | CA1143409331 | ABCA4 | c.3357C= (p.His1119=) c.-64-1285C= (n.-64-1285C=) | |
1 | g.94041374G>T | CA341291258 | ABCA4 | c.3357C>A (p.His1119Gln) c.-64-1285C>A (n.-64-1285C>A) | |
1 | g.94041375T>A | CA341291262 | ABCA4 | c.3356A>T (p.His1119Leu) c.-64-1286A>T (n.-64-1286A>T) | |
1 | g.94041375T>C | CA341291265 | ABCA4 | c.3356A>G (p.His1119Arg) c.-64-1286A>G (n.-64-1286A>G) | |
1 | g.94041375T>G | CA341291260 | ABCA4 | c.3356A>C (p.His1119Pro) c.-64-1286A>C (n.-64-1286A>C) | |
1 | g.94041376G>A | CA341291270 | ABCA4 | c.3355C>T (p.His1119Tyr) c.-64-1287C>T (n.-64-1287C>T) | gnomAD v4 |
1 | g.94041376G>C | CA341291268 | ABCA4 | c.3355C>G (p.His1119Asp) c.-64-1287C>G (n.-64-1287C>G) | |
1 | g.94041376G= | CA1181420065 | ABCA4 | c.3355C= (p.His1119=) c.-64-1287C= (n.-64-1287C=) | |
1 | g.94041376G>T | CA957954 | ABCA4 | c.3355C>A (p.His1119Asn) c.-64-1287C>A (n.-64-1287C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041377G>A | CA957955 | ABCA4 | c.3354C>T (p.His1118=) c.-64-1288C>T (n.-64-1288C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041377G>C | CA341291274 | ABCA4 | c.3354C>G (p.His1118Gln) c.-64-1288C>G (n.-64-1288C>G) | ClinVar |
1 | g.94041377G= | CA1181420066 | ABCA4 | c.3354C= (p.His1118=) c.-64-1288C= (n.-64-1288C=) | |
1 | g.94041377G>T | CA341291276 | ABCA4 | c.3354C>A (p.His1118Gln) c.-64-1288C>A (n.-64-1288C>A) | gnomAD v4 |
1 | g.94041378T>A | CA341291279 | ABCA4 | c.3353A>T (p.His1118Leu) c.-64-1289A>T (n.-64-1289A>T) | |
1 | g.94041378T>C | CA341291281 | ABCA4 | c.3353A>G (p.His1118Arg) c.-64-1289A>G (n.-64-1289A>G) | |
1 | g.94041378T>G | CA341291282 | ABCA4 | c.3353A>C (p.His1118Pro) c.-64-1289A>C (n.-64-1289A>C) | |
1 | g.94041379G>A | CA957956 | ABCA4 | c.3352C>T (p.His1118Tyr) c.-64-1290C>T (n.-64-1290C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041379G>C | CA341291286 | ABCA4 | c.3352C>G (p.His1118Asp) c.-64-1290C>G (n.-64-1290C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.94041379G= | CA1143663602 | ABCA4 | c.3352C= (p.His1118=) c.-64-1290C= (n.-64-1290C=) | |
1 | g.94041379G>T | CA341291289 | ABCA4 | c.3352C>A (p.His1118Asn) c.-64-1290C>A (n.-64-1290C>A) | ClinVar |
1 | g.94041380A>C | CA418826350 | ABCA4 | c.3351T>G (p.Thr1117=) c.-64-1291T>G (n.-64-1291T>G) | |
1 | g.94041380A>G | CA418826351 | ABCA4 | c.3351T>C (p.Thr1117=) c.-64-1291T>C (n.-64-1291T>C) | |
1 | g.94041380A>T | CA418826352 | ABCA4 | c.3351T>A (p.Thr1117=) c.-64-1291T>A (n.-64-1291T>A) | |
1 | g.94041381G>A | CA341291292 | ABCA4 | c.3350C>T (p.Thr1117Ile) c.-64-1292C>T (n.-64-1292C>T) | dbSNP |
1 | g.94041381G>C | CA341291295 | ABCA4 | c.3350C>G (p.Thr1117Ser) c.-64-1292C>G (n.-64-1292C>G) | |
1 | g.94041381G= | CA1181420067 | ABCA4 | c.3350C= (p.Thr1117=) c.-64-1292C= (n.-64-1292C=) | |
1 | g.94041381G>T | CA341291297 | ABCA4 | c.3350C>A (p.Thr1117Asn) c.-64-1292C>A (n.-64-1292C>A) | |
1 | g.94041382T>A | CA341291305 | ABCA4 | c.3349A>T (p.Thr1117Ser) c.-64-1293A>T (n.-64-1293A>T) | gnomAD v4 |
1 | g.94041382T>C | CA341291302 | ABCA4 | c.3349A>G (p.Thr1117Ala) c.-64-1293A>G (n.-64-1293A>G) | gnomAD v4 |
1 | g.94041382T>G | CA341291301 | ABCA4 | c.3349A>C (p.Thr1117Pro) c.-64-1293A>C (n.-64-1293A>C) | ClinVar dbSNP |
1 | g.94041383G>A | CA418826353 | ABCA4 | c.3348C>T (p.Ser1116=) c.-64-1294C>T (n.-64-1294C>T) | gnomAD v4 |
1 | g.94041383G>C | CA418826354 | ABCA4 | c.3348C>G (p.Ser1116=) c.-64-1294C>G (n.-64-1294C>G) | |
1 | g.94041383G>T | CA418826355 | ABCA4 | c.3348C>A (p.Ser1116=) c.-64-1294C>A (n.-64-1294C>A) | |
1 | g.94041384G>A | CA341291308 | ABCA4 | c.3347C>T (p.Ser1116Phe) c.-64-1295C>T (n.-64-1295C>T) | |
1 | g.94041384G>C | CA341291309 | ABCA4 | c.3347C>G (p.Ser1116Cys) c.-64-1295C>G (n.-64-1295C>G) | |
1 | g.94041384G>T | CA341291312 | ABCA4 | c.3347C>A (p.Ser1116Tyr) c.-64-1295C>A (n.-64-1295C>A) | COSMIC |
1 | g.94041385A>C | CA341291314 | ABCA4 | c.3346T>G (p.Ser1116Ala) c.-64-1296T>G (n.-64-1296T>G) | |
1 | g.94041385A>G | CA341291315 | ABCA4 | c.3346T>C (p.Ser1116Pro) c.-64-1296T>C (n.-64-1296T>C) | |
1 | g.94041385A>T | CA341291317 | ABCA4 | c.3346T>A (p.Ser1116Thr) c.-64-1296T>A (n.-64-1296T>A) | |
1 | g.94041385_94041397del | CA2586966922 | ABCA4 | c.3334_3346del (p.Thr1112ProfsTer?) c.-64-1308_-64-1296del (n.-64-1308_-64-1296del) | |
1 | g.94041386C>A | CA341291321 | ABCA4 | c.3345G>T (p.Met1115Ile) c.-64-1297G>T (n.-64-1297G>T) | dbSNP gnomAD v4 |
1 | g.94041386C= | CA1143895780 | ABCA4 | c.3345G= (p.Met1115=) c.-64-1297G= (n.-64-1297G=) | |
1 | g.94041386C>G | CA341291323 | ABCA4 | c.3345G>C (p.Met1115Ile) c.-64-1297G>C (n.-64-1297G>C) | |
1 | g.94041386C>T | CA957957 | ABCA4 | c.3345G>A (p.Met1115Ile) c.-64-1297G>A (n.-64-1297G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041387A= | CA1144160497 | ABCA4 | c.3344T= (p.Met1115=) c.-64-1298T= (n.-64-1298T=) | |
1 | g.94041387A>C | CA341291327 | ABCA4 | c.3344T>G (p.Met1115Arg) c.-64-1298T>G (n.-64-1298T>G) | ClinVar dbSNP |
1 | g.94041387A>G | CA957958 | ABCA4 | c.3344T>C (p.Met1115Thr) c.-64-1298T>C (n.-64-1298T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041387A>T | CA341291331 | ABCA4 | c.3344T>A (p.Met1115Lys) c.-64-1298T>A (n.-64-1298T>A) | |
1 | g.94041393_94041395del | CA2586966924 | ABCA4 | c.3342_3344del (p.Ile1114del) c.-64-1300_-64-1298del (n.-64-1300_-64-1298del) | |
1 | g.94041388T>A | CA341291339 | ABCA4 | c.3343A>T (p.Met1115Leu) c.-64-1299A>T (n.-64-1299A>T) | |
1 | g.94041388T>C | CA341291338 | ABCA4 | c.3343A>G (p.Met1115Val) c.-64-1299A>G (n.-64-1299A>G) | |
1 | g.94041388T>G | CA341291335 | ABCA4 | c.3343A>C (p.Met1115Leu) c.-64-1299A>C (n.-64-1299A>C) | |
1 | g.94041389del | CA2586966925 | ABCA4 | c.3342del (p.Met1115CysfsTer?) c.-64-1300del (n.-64-1300del) | |
1 | g.94041389G>A | CA418826356 | ABCA4 | c.3342C>T (p.Ile1114=) c.-64-1300C>T (n.-64-1300C>T) | |
1 | g.94041389G>C | CA341291341 | ABCA4 | c.3342C>G (p.Ile1114Met) c.-64-1300C>G (n.-64-1300C>G) | COSMIC |
1 | g.94041389G= | CA1181420068 | ABCA4 | c.3342C= (p.Ile1114=) c.-64-1300C= (n.-64-1300C=) | |
1 | g.94041389G>T | CA957959 | ABCA4 | c.3342C>A (p.Ile1114=) c.-64-1300C>A (n.-64-1300C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041390A>C | CA341291344 | ABCA4 | c.3341T>G (p.Ile1114Ser) c.-64-1301T>G (n.-64-1301T>G) | |
1 | g.94041390A>G | CA341291345 | ABCA4 | c.3341T>C (p.Ile1114Thr) c.-64-1301T>C (n.-64-1301T>C) | |
1 | g.94041390A>T | CA341291347 | ABCA4 | c.3341T>A (p.Ile1114Asn) c.-64-1301T>A (n.-64-1301T>A) | |
1 | g.94041391T>A | CA341291349 | ABCA4 | c.3340A>T (p.Ile1114Phe) c.-64-1302A>T (n.-64-1302A>T) | |
1 | g.94041391T>C | CA341291350 | ABCA4 | c.3340A>G (p.Ile1114Val) c.-64-1302A>G (n.-64-1302A>G) | gnomAD v4 |
1 | g.94041391T>G | CA341291352 | ABCA4 | c.3340A>C (p.Ile1114Leu) c.-64-1302A>C (n.-64-1302A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94041391T= | CA1181420069 | ABCA4 | c.3340A= (p.Ile1114=) c.-64-1302A= (n.-64-1302A=) | |
1 | g.94041392G>A | CA418826358 | ABCA4 | c.3339C>T (p.Ile1113=) c.-64-1303C>T (n.-64-1303C>T) | ClinVar dbSNP |
1 | g.94041392G>C | CA341291354 | ABCA4 | c.3339C>G (p.Ile1113Met) c.-64-1303C>G (n.-64-1303C>G) | |
1 | g.94041392G= | CA1181420070 | ABCA4 | c.3339C= (p.Ile1113=) c.-64-1303C= (n.-64-1303C=) | |
1 | g.94041392G>T | CA418826357 | ABCA4 | c.3339C>A (p.Ile1113=) c.-64-1303C>A (n.-64-1303C>A) | |
1 | g.94041393A>C | CA341291357 | ABCA4 | c.3338T>G (p.Ile1113Ser) c.-64-1304T>G (n.-64-1304T>G) | |
1 | g.94041393A>G | CA341291358 | ABCA4 | c.3338T>C (p.Ile1113Thr) c.-64-1304T>C (n.-64-1304T>C) | |
1 | g.94041393A>T | CA341291360 | ABCA4 | c.3338T>A (p.Ile1113Asn) c.-64-1304T>A (n.-64-1304T>A) | |
1 | g.94041394T>A | CA341291369 | ABCA4 | c.3337A>T (p.Ile1113Phe) c.-64-1305A>T (n.-64-1305A>T) | gnomAD v4 |
1 | g.94041394T>C | CA341291367 | ABCA4 | c.3337A>G (p.Ile1113Val) c.-64-1305A>G (n.-64-1305A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041394T>G | CA341291364 | ABCA4 | c.3337A>C (p.Ile1113Leu) c.-64-1305A>C (n.-64-1305A>C) | |
1 | g.94041394T= | CA1181420071 | ABCA4 | c.3337A= (p.Ile1113=) c.-64-1305A= (n.-64-1305A=) | |
1 | g.94041395G>A | CA418826359 | ABCA4 | c.3336C>T (p.Thr1112=) c.-64-1306C>T (n.-64-1306C>T) | |
1 | g.94041395G>C | CA418826361 | ABCA4 | c.3336C>G (p.Thr1112=) c.-64-1306C>G (n.-64-1306C>G) | ClinVar gnomAD v4 |
1 | g.94041395G= | CA1181420072 | ABCA4 | c.3336C= (p.Thr1112=) c.-64-1306C= (n.-64-1306C=) | |
1 | g.94041395G>T | CA418826360 | ABCA4 | c.3336C>A (p.Thr1112=) c.-64-1306C>A (n.-64-1306C>A) | ClinVar dbSNP gnomAD v4 |
1 | g.94041396G>A | CA341291372 | ABCA4 | c.3335C>T (p.Thr1112Ile) c.-64-1307C>T (n.-64-1307C>T) | |
1 | g.94041396G>C | CA341291374 | ABCA4 | c.3335C>G (p.Thr1112Ser) c.-64-1307C>G (n.-64-1307C>G) | |
1 | g.94041396G= | CA1140725847 | ABCA4 | c.3335C= (p.Thr1112=) c.-64-1307C= (n.-64-1307C=) | |
1 | g.94041396G>T | CA227112 | ABCA4 | c.3335C>A (p.Thr1112Asn) c.-64-1307C>A (n.-64-1307C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94041397T>A | CA341291377 | ABCA4 | c.3334A>T (p.Thr1112Ser) c.-64-1308A>T (n.-64-1308A>T) | |
1 | g.94041397T>C | CA341291378 | ABCA4 | c.3334A>G (p.Thr1112Ala) c.-64-1308A>G (n.-64-1308A>G) | gnomAD v4 |
1 | g.94041397T>G | CA341291381 | ABCA4 | c.3334A>C (p.Thr1112Pro) c.-64-1308A>C (n.-64-1308A>C) | |
1 | g.94041398T>A | CA341291383 | ABCA4 | c.3333A>T (p.Arg1111Ser) c.-64-1309A>T (n.-64-1309A>T) | |
1 | g.94041398T>C | CA418826362 | ABCA4 | c.3333A>G (p.Arg1111=) c.-64-1309A>G (n.-64-1309A>G) | |
1 | g.94041398T>G | CA341291384 | ABCA4 | c.3333A>C (p.Arg1111Ser) c.-64-1309A>C (n.-64-1309A>C) |