Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94079339G>A | CA179692 | ABCA4 | c.1222C>T (p.Arg408Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.94079339G>C | CA341283289 | ABCA4 | c.1222C>G (p.Arg408Gly) | |
1 | g.94079339G= | CA1140726027 | ABCA4 | c.1222C= (p.Arg408=) | |
1 | g.94079339G>T | CA418826397 | ABCA4 | c.1222C>A (p.Arg408=) | |
1 | g.94079340T>A | CA418826398 | ABCA4 | c.1221A>T (p.Ala407=) | |
1 | g.94079340T>C | CA418826399 | ABCA4 | c.1221A>G (p.Ala407=) | ClinVar gnomAD v4 |
1 | g.94079340T>G | CA418826400 | ABCA4 | c.1221A>C (p.Ala407=) | |
1 | g.94079341G>A | CA226873 | ABCA4 | c.1220C>T (p.Ala407Val) | ClinVar dbSNP |
1 | g.94079341G>C | CA341283290 | ABCA4 | c.1220C>G (p.Ala407Gly) | |
1 | g.94079341G= | CA1140726032 | ABCA4 | c.1220C= (p.Ala407=) | |
1 | g.94079341G>T | CA341283291 | ABCA4 | c.1220C>A (p.Ala407Glu) | |
1 | g.94079342C>A | CA341283292 | ABCA4 | c.1219G>T (p.Ala407Ser) | |
1 | g.94079342C= | CA1181434780 | ABCA4 | c.1219G= (p.Ala407=) | |
1 | g.94079342C>G | CA341283293 | ABCA4 | c.1219G>C (p.Ala407Pro) | gnomAD v4 |
1 | g.94079342C>T | CA341283294 | ABCA4 | c.1219G>A (p.Ala407Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94079343T>A | CA418826401 | ABCA4 | c.1218A>T (p.Ala406=) | |
1 | g.94079343T>C | CA418826402 | ABCA4 | c.1218A>G (p.Ala406=) | |
1 | g.94079343T>G | CA418826403 | ABCA4 | c.1218A>C (p.Ala406=) | |
1 | g.94079344G>A | CA341283295 | ABCA4 | c.1217C>T (p.Ala406Val) | |
1 | g.94079344G>C | CA341283297 | ABCA4 | c.1217C>G (p.Ala406Gly) | |
1 | g.94079344G>T | CA341283296 | ABCA4 | c.1217C>A (p.Ala406Glu) | |
1 | g.94079345C>A | CA341283298 | ABCA4 | c.1216G>T (p.Ala406Ser) | |
1 | g.94079345C= | CA1181434781 | ABCA4 | c.1216G= (p.Ala406=) | |
1 | g.94079345C>G | CA341283299 | ABCA4 | c.1216G>C (p.Ala406Pro) | |
1 | g.94079345C>T | CA958605 | ABCA4 | c.1216G>A (p.Ala406Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94079346A= | CA1181434782 | ABCA4 | c.1215T= (p.Pro405=) | |
1 | g.94079346A>C | CA418826404 | ABCA4 | c.1215T>G (p.Pro405=) | |
1 | g.94079346A>G | CA958606 | ABCA4 | c.1215T>C (p.Pro405=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94079346A>T | CA418826405 | ABCA4 | c.1215T>A (p.Pro405=) | |
1 | g.94079347G>A | CA341283300 | ABCA4 | c.1214C>T (p.Pro405Leu) | |
1 | g.94079347G>C | CA958607 | ABCA4 | c.1214C>G (p.Pro405Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94079347G= | CA1149058751 | ABCA4 | c.1214C= (p.Pro405=) | |
1 | g.94079347G>T | CA341283301 | ABCA4 | c.1214C>A (p.Pro405His) | |
1 | g.94079348G>A | CA341283302 | ABCA4 | c.1213C>T (p.Pro405Ser) | ClinVar dbSNP |
1 | g.94079348G>C | CA341283303 | ABCA4 | c.1213C>G (p.Pro405Ala) | |
1 | g.94079348G>T | CA341283304 | ABCA4 | c.1213C>A (p.Pro405Thr) | |
1 | g.94079349T>A | CA418826409 | ABCA4 | c.1212A>T (p.Ser404=) | |
1 | g.94079349T>C | CA418826410 | ABCA4 | c.1212A>G (p.Ser404=) | gnomAD v4 |
1 | g.94079349T>G | CA418826411 | ABCA4 | c.1212A>C (p.Ser404=) | |
1 | g.94079350G>A | CA341283305 | ABCA4 | c.1211C>T (p.Ser404Leu) | |
1 | g.94079350G>C | CA958608 | ABCA4 | c.1211C>G (p.Ser404Ter) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.94079350G= | CA1142380150 | ABCA4 | c.1211C= (p.Ser404=) | |
1 | g.94079350G>T | CA341283306 | ABCA4 | c.1211C>A (p.Ser404Ter) | |
1 | g.94079351A>C | CA341283307 | ABCA4 | c.1210T>G (p.Ser404Ala) | |
1 | g.94079351A>G | CA341283308 | ABCA4 | c.1210T>C (p.Ser404Pro) | |
1 | g.94079351A>T | CA341283309 | ABCA4 | c.1210T>A (p.Ser404Thr) | gnomAD v4 |
1 | g.94079352A>C | CA341283310 | ABCA4 | c.1209T>G (p.Asp403Glu) | |
1 | g.94079352A>G | CA418826413 | ABCA4 | c.1209T>C (p.Asp403=) | |
1 | g.94079352A>T | CA341283311 | ABCA4 | c.1209T>A (p.Asp403Glu) | |
1 | g.94079353T>A | CA26868971 | ABCA4 | c.1208A>T (p.Asp403Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |