Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |