Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94029453_94029478del | CA2586966876 | ABCA4 | c.4510_4535del (p.Glu1504ProfsTer?) c.886_911del (p.Glu296ProfsTer?) | |
1 | g.94029478G>A | CA227201 | ABCA4 | c.4506C>T (p.Cys1502=) c.882C>T (p.Cys294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029478G>C | CA341284820 | ABCA4 | c.4506C>G (p.Cys1502Trp) c.882C>G (p.Cys294Trp) | |
1 | g.94029478G= | CA1140726087 | ABCA4 | c.4506C= (p.Cys1502=) c.882C= (p.Cys294=) | |
1 | g.94029478G>T | CA227199 | ABCA4 | c.4506C>A (p.Cys1502Ter) c.882C>A (p.Cys294Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029479C>A | CA341284821 | ABCA4 | c.4505G>T (p.Cys1502Phe) c.881G>T (p.Cys294Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.94029479C= | CA1181414558 | ABCA4 | c.4505G= (p.Cys1502=) c.881G= (p.Cys294=) | |
1 | g.94029479C>G | CA341284822 | ABCA4 | c.4505G>C (p.Cys1502Ser) c.881G>C (p.Cys294Ser) | |
1 | g.94029479C>T | CA341284823 | ABCA4 | c.4505G>A (p.Cys1502Tyr) c.881G>A (p.Cys294Tyr) | gnomAD v4 |
1 | g.94029480A= | CA1181414559 | ABCA4 | c.4504T= (p.Cys1502=) c.880T= (p.Cys294=) | |
1 | g.94029480A>C | CA341284824 | ABCA4 | c.4504T>G (p.Cys1502Gly) c.880T>G (p.Cys294Gly) | |
1 | g.94029480A>G | CA341284825 | ABCA4 | c.4504T>C (p.Cys1502Arg) c.880T>C (p.Cys294Arg) | |
1 | g.94029480A>T | CA341284826 | ABCA4 | c.4504T>A (p.Cys1502Ser) c.880T>A (p.Cys294Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029481C>A | CA341284827 | ABCA4 | c.4503G>T (p.Glu1501Asp) c.879G>T (p.Glu293Asp) | gnomAD v4 |
1 | g.94029481C= | CA1141919367 | ABCA4 | c.4503G= (p.Glu1501=) c.879G= (p.Glu293=) | |
1 | g.94029481C>G | CA957596 | ABCA4 | c.4503G>C (p.Glu1501Asp) c.879G>C (p.Glu293Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029481C>T | CA418824277 | ABCA4 | c.4503G>A (p.Glu1501=) c.879G>A (p.Glu293=) | |
1 | g.94029482T>A | CA341284828 | ABCA4 | c.4502A>T (p.Glu1501Val) c.878A>T (p.Glu293Val) | |
1 | g.94029482T>C | CA341284829 | ABCA4 | c.4502A>G (p.Glu1501Gly) c.878A>G (p.Glu293Gly) | |
1 | g.94029482T>G | CA341284830 | ABCA4 | c.4502A>C (p.Glu1501Ala) c.878A>C (p.Glu293Ala) | |
1 | g.94029483C>A | CA26853486 | ABCA4 | c.4501G>T (p.Glu1501Ter) c.877G>T (p.Glu293Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029483C= | CA1181414560 | ABCA4 | c.4501G= (p.Glu1501=) c.877G= (p.Glu293=) | |
1 | g.94029483C>G | CA341284833 | ABCA4 | c.4501G>C (p.Glu1501Gln) c.877G>C (p.Glu293Gln) | |
1 | g.94029483C>T | CA341284835 | ABCA4 | c.4501G>A (p.Glu1501Lys) c.877G>A (p.Glu293Lys) | |
1 | g.94029484T>A | CA418824290 | ABCA4 | c.4500A>T (p.Pro1500=) c.876A>T (p.Pro292=) | |
1 | g.94029484T>C | CA418824286 | ABCA4 | c.4500A>G (p.Pro1500=) c.876A>G (p.Pro292=) | ClinVar dbSNP gnomAD v4 |
1 | g.94029484T>G | CA418824288 | ABCA4 | c.4500A>C (p.Pro1500=) c.876A>C (p.Pro292=) | |
1 | g.94029484T= | CA1181414561 | ABCA4 | c.4500A= (p.Pro1500=) c.876A= (p.Pro292=) | |
1 | g.94029485G>A | CA341284836 | ABCA4 | c.4499C>T (p.Pro1500Leu) c.875C>T (p.Pro292Leu) | |
1 | g.94029485G>C | CA341284838 | ABCA4 | c.4499C>G (p.Pro1500Arg) c.875C>G (p.Pro292Arg) | |
1 | g.94029485G>T | CA341284837 | ABCA4 | c.4499C>A (p.Pro1500Gln) c.875C>A (p.Pro292Gln) | |
1 | g.94029486G>A | CA26853493 | ABCA4 | c.4498C>T (p.Pro1500Ser) c.874C>T (p.Pro292Ser) | ClinVar dbSNP |
1 | g.94029486G>C | CA341284840 | ABCA4 | c.4498C>G (p.Pro1500Ala) c.874C>G (p.Pro292Ala) | |
1 | g.94029486G= | CA1181414562 | ABCA4 | c.4498C= (p.Pro1500=) c.874C= (p.Pro292=) | |
1 | g.94029486G>T | CA341284842 | ABCA4 | c.4498C>A (p.Pro1500Thr) c.874C>A (p.Pro292Thr) | gnomAD v4 |
1 | g.94029487C>A | CA418824300 | ABCA4 | c.4497G>T (p.Leu1499=) c.873G>T (p.Leu291=) | ClinVar |
1 | g.94029487C>G | CA418824305 | ABCA4 | c.4497G>C (p.Leu1499=) c.873G>C (p.Leu291=) | |
1 | g.94029487C>T | CA418824303 | ABCA4 | c.4497G>A (p.Leu1499=) c.873G>A (p.Leu291=) | ClinVar |
1 | g.94029488A= | CA1181414563 | ABCA4 | c.4496T= (p.Leu1499=) c.872T= (p.Leu291=) | |
1 | g.94029488A>C | CA341284843 | ABCA4 | c.4496T>G (p.Leu1499Arg) c.872T>G (p.Leu291Arg) | |
1 | g.94029488A>G | CA341284844 | ABCA4 | c.4496T>C (p.Leu1499Pro) c.872T>C (p.Leu291Pro) | |
1 | g.94029488A>T | CA341284846 | ABCA4 | c.4496T>A (p.Leu1499Gln) c.872T>A (p.Leu291Gln) | dbSNP |
1 | g.94029489G>A | CA418824312 | ABCA4 | c.4495C>T (p.Leu1499=) c.871C>T (p.Leu291=) | |
1 | g.94029489G>C | CA341284847 | ABCA4 | c.4495C>G (p.Leu1499Val) c.871C>G (p.Leu291Val) | |
1 | g.94029489G>T | CA341284848 | ABCA4 | c.4495C>A (p.Leu1499Met) c.871C>A (p.Leu291Met) | |
1 | g.94029490C>A | CA341284849 | ABCA4 | c.4494G>T (p.Met1498Ile) c.870G>T (p.Met290Ile) | |
1 | g.94029490C>G | CA341284850 | ABCA4 | c.4494G>C (p.Met1498Ile) c.870G>C (p.Met290Ile) | |
1 | g.94029490C>T | CA341284852 | ABCA4 | c.4494G>A (p.Met1498Ile) c.870G>A (p.Met290Ile) | |
1 | g.94029491A>C | CA341284856 | ABCA4 | c.4493T>G (p.Met1498Arg) c.869T>G (p.Met290Arg) | |
1 | g.94029491A>G | CA341284855 | ABCA4 | c.4493T>C (p.Met1498Thr) c.869T>C (p.Met290Thr) |