Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94111452_94111453delinsGT | CA1181447789 | ABCA4 | c.287_288delinsAC (p.Asn96=) | |
1 | g.94111453T>A | CA341285362 | ABCA4 | c.287A>T (p.Asn96Ile) | ClinVar dbSNP |
1 | g.94111453T>C | CA341285363 | ABCA4 | c.287A>G (p.Asn96Ser) | |
1 | g.94111453T>G | CA341285366 | ABCA4 | c.287A>C (p.Asn96Thr) | |
1 | g.94111455del | CA645372152 | ABCA4 | c.287del (p.Asn96ThrfsTer19) | ClinVar dbSNP |
1 | g.94111454T>A | CA341285368 | ABCA4 | c.286A>T (p.Asn96Tyr) | |
1 | g.94111454T>C | CA227042 | ABCA4 | c.286A>G (p.Asn96Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94111454T>G | CA227041 | ABCA4 | c.286A>C (p.Asn96His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94111454T= | CA1140726113 | ABCA4 | c.286A= (p.Asn96=) | |
1 | g.94111455T>A | CA418825785 | ABCA4 | c.285A>T (p.Ser95=) | |
1 | g.94111455T>C | CA26842451 | ABCA4 | c.285A>G (p.Ser95=) | dbSNP gnomAD v4 |
1 | g.94111455T>G | CA418825783 | ABCA4 | c.285A>C (p.Ser95=) | |
1 | g.94111455T= | CA1143973859 | ABCA4 | c.285A= (p.Ser95=) | |
1 | g.94111456G>A | CA341285373 | ABCA4 | c.284C>T (p.Ser95Leu) | ClinVar |
1 | g.94111456G>C | CA341285375 | ABCA4 | c.284C>G (p.Ser95Ter) | |
1 | g.94111456G>T | CA341285377 | ABCA4 | c.284C>A (p.Ser95Ter) | gnomAD v4 |
1 | g.94111457A= | CA1181447790 | ABCA4 | c.283T= (p.Ser95=) | |
1 | g.94111457A>C | CA341285384 | ABCA4 | c.283T>G (p.Ser95Ala) | gnomAD v4 |
1 | g.94111457A>G | CA341285380 | ABCA4 | c.283T>C (p.Ser95Pro) | dbSNP gnomAD v4 |
1 | g.94111457A>T | CA341285381 | ABCA4 | c.283T>A (p.Ser95Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94111458C>A | CA418825787 | ABCA4 | c.282G>T (p.Val94=) | |
1 | g.94111458C= | CA1181447791 | ABCA4 | c.282G= (p.Val94=) | |
1 | g.94111458C>G | CA418825789 | ABCA4 | c.282G>C (p.Val94=) | |
1 | g.94111458C>T | CA418825788 | ABCA4 | c.282G>A (p.Val94=) | dbSNP gnomAD v2 |
1 | g.94111459A= | CA1181447792 | ABCA4 | c.281T= (p.Val94=) | |
1 | g.94111459A>C | CA341285386 | ABCA4 | c.281T>G (p.Val94Gly) | |
1 | g.94111459A>G | CA341285387 | ABCA4 | c.281T>C (p.Val94Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94111459A>T | CA341285388 | ABCA4 | c.281T>A (p.Val94Glu) | |
1 | g.94111460C>A | CA341285389 | ABCA4 | c.280G>T (p.Val94Leu) | |
1 | g.94111460C>G | CA341285390 | ABCA4 | c.280G>C (p.Val94Leu) | |
1 | g.94111460C>T | CA341285391 | ABCA4 | c.280G>A (p.Val94Met) | |
1 | g.94111461A>C | CA341285392 | ABCA4 | c.279T>G (p.Ile93Met) | |
1 | g.94111461A>G | CA418825790 | ABCA4 | c.279T>C (p.Ile93=) | |
1 | g.94111461A>T | CA418825791 | ABCA4 | c.279T>A (p.Ile93=) | |
1 | g.94111462A= | CA1181447793 | ABCA4 | c.278T= (p.Ile93=) | |
1 | g.94111462A>C | CA341285393 | ABCA4 | c.278T>G (p.Ile93Ser) | |
1 | g.94111462A>G | CA341285394 | ABCA4 | c.278T>C (p.Ile93Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94111462A>T | CA341285395 | ABCA4 | c.278T>A (p.Ile93Asn) | |
1 | g.94111463T>A | CA341285397 | ABCA4 | c.277A>T (p.Ile93Phe) | |
1 | g.94111463T>C | CA341285398 | ABCA4 | c.277A>G (p.Ile93Val) | |
1 | g.94111463T>G | CA341285396 | ABCA4 | c.277A>C (p.Ile93Leu) | |
1 | g.94111464T>A | CA418825797 | ABCA4 | c.276A>T (p.Gly92=) | |
1 | g.94111464T>C | CA418825798 | ABCA4 | c.276A>G (p.Gly92=) | |
1 | g.94111464T>G | CA418825799 | ABCA4 | c.276A>C (p.Gly92=) | |
1 | g.94111465C>A | CA341285399 | ABCA4 | c.275G>T (p.Gly92Val) | |
1 | g.94111465C= | CA1181447794 | ABCA4 | c.275G= (p.Gly92=) | |
1 | g.94111465C>G | CA341285400 | ABCA4 | c.275G>C (p.Gly92Ala) | |
1 | g.94111465C>T | CA341285401 | ABCA4 | c.275G>A (p.Gly92Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94111466C>A | CA341285402 | ABCA4 | c.274G>T (p.Gly92Ter) | |
1 | g.94111466C>G | CA341285403 | ABCA4 | c.274G>C (p.Gly92Arg) |