OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.94041399C>A | CA341291387 | ABCA4 | c.3332G>T (p.Arg1111Ile) c.-64-1310G>T (n.-64-1310G>T) | |
| 1 | g.94041399C>G | CA341291389 | ABCA4 | c.3332G>C (p.Arg1111Thr) c.-64-1310G>C (n.-64-1310G>C) | |
| 1 | g.94041399C>T | CA341291391 | ABCA4 | c.3332G>A (p.Arg1111Lys) c.-64-1310G>A (n.-64-1310G>A) | |
| 1 | g.94041400T>A | CA341291395 | ABCA4 | c.3331A>T (p.Arg1111Ter) c.-64-1311A>T (n.-64-1311A>T) | |
| 1 | g.94041400T>C | CA341291397 | ABCA4 | c.3331A>G (p.Arg1111Gly) c.-64-1311A>G (n.-64-1311A>G) | |
| 1 | g.94041400T>G | CA418826363 | ABCA4 | c.3331A>C (p.Arg1111=) c.-64-1311A>C (n.-64-1311A>C) | |
| 1 | g.94041401G>A | CA957961 | ABCA4 | c.3330C>T (p.Gly1110=) c.-64-1312C>T (n.-64-1312C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041401G>C | CA418826364 | ABCA4 | c.3330C>G (p.Gly1110=) c.-64-1312C>G (n.-64-1312C>G) | COSMIC |
| 1 | g.94041401G= | CA1181420073 | ABCA4 | c.3330C= (p.Gly1110=) c.-64-1312C= (n.-64-1312C=) | |
| 1 | g.94041401G>T | CA957960 | ABCA4 | c.3330C>A (p.Gly1110=) c.-64-1312C>A (n.-64-1312C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94041402C>A | CA341291401 | ABCA4 | c.3329G>T (p.Gly1110Val) c.-64-1313G>T (n.-64-1313G>T) | |
| 1 | g.94041402C= | CA1181420074 | ABCA4 | c.3329G= (p.Gly1110=) c.-64-1313G= (n.-64-1313G=) | |
| 1 | g.94041402C>G | CA341291405 | ABCA4 | c.3329G>C (p.Gly1110Ala) c.-64-1313G>C (n.-64-1313G>C) | |
| 1 | g.94041402C>T | CA341291404 | ABCA4 | c.3329G>A (p.Gly1110Asp) c.-64-1313G>A (n.-64-1313G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94041403C>A | CA341291407 | ABCA4 | c.3329-1G>T (n.3329-1G>T) c.-64-1314G>T (n.-64-1314G>T) | |
| 1 | g.94041403C= | CA1145544443 | ABCA4 | c.3329-1G= (n.3329-1G=) c.-64-1314G= (n.-64-1314G=) | |
| 1 | g.94041403C>G | CA341291408 | ABCA4 | c.3329-1G>C (n.3329-1G>C) c.-64-1314G>C (n.-64-1314G>C) | |
| 1 | g.94041403C>T | CA957962 | ABCA4 | c.3329-1G>A (n.3329-1G>A) c.-64-1314G>A (n.-64-1314G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041404T>A | CA341291411 | ABCA4 | c.3329-2A>T (n.3329-2A>T) c.-64-1315A>T (n.-64-1315A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041404T>C | CA341291412 | ABCA4 | c.3329-2A>G (n.3329-2A>G) c.-64-1315A>G (n.-64-1315A>G) | |
| 1 | g.94041404T>G | CA341291413 | ABCA4 | c.3329-2A>C (n.3329-2A>C) c.-64-1315A>C (n.-64-1315A>C) | |
| 1 | g.94041404T= | CA1181420075 | ABCA4 | c.3329-2A= (n.3329-2A=) c.-64-1315A= (n.-64-1315A=) | |
| 1 | g.94041405G>C | CA2586966930 | ABCA4 | c.3329-3C>G (n.3329-3C>G) c.-64-1316C>G (n.-64-1316C>G) | |
| 1 | g.94041405G>T | CA2573132696 | ABCA4 | c.3329-3C>A (n.3329-3C>A) c.-64-1316C>A (n.-64-1316C>A) | ClinVar dbSNP |
| 1 | g.94041405_94041406insAGT | CA2744617277 | ABCA4 | c.3329-4_3329-3insACT (n.3329-4_3329-3insACT) c.-64-1317_-64-1316insACT (n.-64-1317_-64-1316insACT) | |
| 1 | g.94041406C>A | CA1181420077 | ABCA4 | c.3329-4G>T (n.3329-4G>T) c.-64-1317G>T (n.-64-1317G>T) | dbSNP gnomAD v4 |
| 1 | g.94041406C= | CA1181420076 | ABCA4 | c.3329-4G= (n.3329-4G=) c.-64-1317G= (n.-64-1317G=) | |
| 1 | g.94041407A>T | CA2646648905 | ABCA4 | c.3329-5T>A (n.3329-5T>A) c.-64-1318T>A (n.-64-1318T>A) | gnomAD v4 |
| 1 | g.94041408A= | CA1181420078 | ABCA4 | c.3329-6T= (n.3329-6T=) c.-64-1319T= (n.-64-1319T=) | |
| 1 | g.94041408A>G | CA2744617278 | ABCA4 | c.3329-6T>C (n.3329-6T>C) c.-64-1319T>C (n.-64-1319T>C) | |
| 1 | g.94041409G>A | CA2573132697 | ABCA4 | c.3329-7C>T (n.3329-7C>T) c.-64-1320C>T (n.-64-1320C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94041410dup | CA1181420079 | ABCA4 | c.3329-7dup (n.3329-7dup) c.-64-1320dup (n.-64-1320dup) | dbSNP |
| 1 | g.94041410G= | CA1181420080 | ABCA4 | c.3329-8C= (n.3329-8C=) c.-64-1321C= (n.-64-1321C=) | |
| 1 | g.94041410G>T | CA957963 | ABCA4 | c.3329-8C>A (n.3329-8C>A) c.-64-1321C>A (n.-64-1321C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041411T>C | CA524697536 | ABCA4 | c.3329-9A>G (n.3329-9A>G) c.-64-1322A>G (n.-64-1322A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041411T= | CA1181420081 | ABCA4 | c.3329-9A= (n.3329-9A=) c.-64-1322A= (n.-64-1322A=) | |
| 1 | g.94041413G>A | CA957964 | ABCA4 | c.3329-11C>T (n.3329-11C>T) c.-64-1324C>T (n.-64-1324C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041413G>C | CA2574438718 | ABCA4 | c.3329-11C>G (n.3329-11C>G) c.-64-1324C>G (n.-64-1324C>G) | gnomAD v4 |
| 1 | g.94041413G= | CA1143541090 | ABCA4 | c.3329-11C= (n.3329-11C=) c.-64-1324C= (n.-64-1324C=) | |
| 1 | g.94041414G>A | CA2646648906 | ABCA4 | c.3329-12C>T (n.3329-12C>T) c.-64-1325C>T (n.-64-1325C>T) | gnomAD v4 |
| 1 | g.94041414G>C | CA957965 | ABCA4 | c.3329-12C>G (n.3329-12C>G) c.-64-1325C>G (n.-64-1325C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94041414G= | CA1148363400 | ABCA4 | c.3329-12C= (n.3329-12C=) c.-64-1325C= (n.-64-1325C=) | |
| 1 | g.94041415G>A | CA2739272728 | ABCA4 | c.3329-13C>T (n.3329-13C>T) c.-64-1326C>T (n.-64-1326C>T) | ClinVar |
| 1 | g.94041416G>A | CA26863882 | ABCA4 | c.3329-14C>T (n.3329-14C>T) c.-64-1327C>T (n.-64-1327C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94041416G= | CA1143704063 | ABCA4 | c.3329-14C= (n.3329-14C=) c.-64-1327C= (n.-64-1327C=) | |
| 1 | g.94041417C>A | CA2744617281 | ABCA4 | c.3329-15G>T (n.3329-15G>T) c.-64-1328G>T (n.-64-1328G>T) | |
| 1 | g.94041417C>T | CA2646648907 | ABCA4 | c.3329-15G>A (n.3329-15G>A) c.-64-1328G>A (n.-64-1328G>A) | gnomAD v4 |
| 1 | g.94041419A= | CA1181420082 | ABCA4 | c.3329-17T= (n.3329-17T=) c.-64-1330T= (n.-64-1330T=) | |
| 1 | g.94041419A>C | CA957966 | ABCA4 | c.3329-17T>G (n.3329-17T>G) c.-64-1330T>G (n.-64-1330T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94041421G>A | CA957967 | ABCA4 | c.3329-19C>T (n.3329-19C>T) c.-64-1332C>T (n.-64-1332C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041421G= | CA1143952099 | ABCA4 | c.3329-19C= (n.3329-19C=) c.-64-1332C= (n.-64-1332C=) | |
| 1 | g.94041423C>A | CA1004563211 | ABCA4 | c.3329-21G>T (n.3329-21G>T) c.-64-1334G>T (n.-64-1334G>T) | gnomAD v4 |
| 1 | g.94041425_94041431del | CA2551908132 | ABCA4 | c.3329-27_3329-21del (n.3329-27_3329-21del) c.-64-1340_-64-1334del (n.-64-1340_-64-1334del) | |
| 1 | g.94041427C>A | CA2646648908 | ABCA4 | c.3329-25G>T (n.3329-25G>T) c.-64-1338G>T (n.-64-1338G>T) | gnomAD v4 |
| 1 | g.94041427C= | CA1141899550 | ABCA4 | c.3329-25G= (n.3329-25G=) c.-64-1338G= (n.-64-1338G=) | |
| 1 | g.94041427C>T | CA957968 | ABCA4 | c.3329-25G>A (n.3329-25G>A) c.-64-1338G>A (n.-64-1338G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041429C>A | CA524697539 | ABCA4 | c.3329-27G>T (n.3329-27G>T) c.-64-1340G>T (n.-64-1340G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041429C= | CA1181420083 | ABCA4 | c.3329-27G= (n.3329-27G=) c.-64-1340G= (n.-64-1340G=) | |
| 1 | g.94041429C>T | CA740499709 | ABCA4 | c.3329-27G>A (n.3329-27G>A) c.-64-1340G>A (n.-64-1340G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94041432G>A | CA524697540 | ABCA4 | c.3329-30C>T (n.3329-30C>T) c.-64-1343C>T (n.-64-1343C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041432G= | CA1181420084 | ABCA4 | c.3329-30C= (n.3329-30C=) c.-64-1343C= (n.-64-1343C=) | |
| 1 | g.94041433_94041434insAT | CA2744617285 | ABCA4 | c.3329-32_3329-31insAT (n.3329-32_3329-31insAT) c.-64-1345_-64-1344insAT (n.-64-1345_-64-1344insAT) | |
| 1 | g.94041434C>A | CA1181420086 | ABCA4 | c.3329-32G>T (n.3329-32G>T) c.-64-1345G>T (n.-64-1345G>T) | dbSNP gnomAD v4 |
| 1 | g.94041434C= | CA1181420085 | ABCA4 | c.3329-32G= (n.3329-32G=) c.-64-1345G= (n.-64-1345G=) | |
| 1 | g.94041435C>A | CA1181420088 | ABCA4 | c.3329-33G>T (n.3329-33G>T) c.-64-1346G>T (n.-64-1346G>T) | dbSNP |
| 1 | g.94041435C= | CA1181420087 | ABCA4 | c.3329-33G= (n.3329-33G=) c.-64-1346G= (n.-64-1346G=) | |
| 1 | g.94041435_94041436insAGTA | CA2744617288 | ABCA4 | c.3329-34_3329-33insTACT (n.3329-34_3329-33insTACT) c.-64-1347_-64-1346insTACT (n.-64-1347_-64-1346insTACT) | |
| 1 | g.94041436T>A | CA2581703257 | ABCA4 | c.3329-34A>T (n.3329-34A>T) c.-64-1347A>T (n.-64-1347A>T) | |
| 1 | g.94041436T>C | CA227111 | ABCA4 | c.3329-34A>G (n.3329-34A>G) c.-64-1347A>G (n.-64-1347A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94041436T>G | CA2581703258 | ABCA4 | c.3329-34A>C (n.3329-34A>C) c.-64-1347A>C (n.-64-1347A>C) | |
| 1 | g.94041436T= | CA1140291148 | ABCA4 | c.3329-34A= (n.3329-34A=) c.-64-1347A= (n.-64-1347A=) | |
| 1 | g.94041437_94041438insGTGATTG | CA2558947554 | ABCA4 | c.3329-34_3329-33insATCACCA (n.3329-34_3329-33insATCACCA) c.-64-1347_-64-1346insATCACCA (n.-64-1347_-64-1346insATCACCA) | |
| 1 | g.94041437G>A | CA1004563218 | ABCA4 | c.3329-35C>T (n.3329-35C>T) c.-64-1348C>T (n.-64-1348C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94041437G= | CA1181420089 | ABCA4 | c.3329-35C= (n.3329-35C=) c.-64-1348C= (n.-64-1348C=) |