Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.94111466C>T | CA341285404 | ABCA4 | c.274G>A (p.Gly92Arg) | |
1 | g.94111467A= | CA1149056790 | ABCA4 | c.273T= (p.Pro91=) | |
1 | g.94111467A>C | CA418825802 | ABCA4 | c.273T>G (p.Pro91=) | |
1 | g.94111467A>G | CA958887 | ABCA4 | c.273T>C (p.Pro91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94111467A>T | CA418825804 | ABCA4 | c.273T>A (p.Pro91=) | |
1 | g.94111468G>A | CA341285405 | ABCA4 | c.272C>T (p.Pro91Leu) | |
1 | g.94111468G>C | CA341285406 | ABCA4 | c.272C>G (p.Pro91Arg) | |
1 | g.94111468G>T | CA341285407 | ABCA4 | c.272C>A (p.Pro91His) | |
1 | g.94111469G>A | CA26842454 | ABCA4 | c.271C>T (p.Pro91Ser) | dbSNP COSMIC |
1 | g.94111469G>C | CA341285408 | ABCA4 | c.271C>G (p.Pro91Ala) | |
1 | g.94111469G= | CA1181447795 | ABCA4 | c.271C= (p.Pro91=) | |
1 | g.94111469G>T | CA341285409 | ABCA4 | c.271C>A (p.Pro91Thr) | |
1 | g.94111470A>C | CA418825810 | ABCA4 | c.270T>G (p.Ser90=) | |
1 | g.94111470A>G | CA418825811 | ABCA4 | c.270T>C (p.Ser90=) | ClinVar |
1 | g.94111470A>T | CA418825812 | ABCA4 | c.270T>A (p.Ser90=) | gnomAD v4 |
1 | g.94111471G>A | CA341285410 | ABCA4 | c.269C>T (p.Ser90Phe) | gnomAD v4 |