| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94015761_94015770delinsCAAGGGCAGG | CA1181411614 | ABCA4 | c.5281_5290delinsCCTGCCCTTG (p.Pro1761=) c.1657_1666delinsCCTGCCCTTG (p.Pro553=) | |
| 1 | g.94015762_94015774del | CA1004550420 | ABCA4 | c.5277_5289del (p.Asn1759LysfsTer15) c.1653_1665del (p.Asn551LysfsTer15) | gnomAD v3 gnomAD v4 |
| 1 | g.94015762_94015774delinsAAGGGCAGGAAGG | CA1140725878 | ABCA4 | c.5277_5289delinsCCTTCCTGCCCTT (p.Asn1759=) c.1653_1665delinsCCTTCCTGCCCTT (p.Asn551=) | |
| 1 | g.94015766_94015774del | CA227293 | ABCA4 | c.5281_5289del (p.Pro1761_Leu1763del) c.1657_1665del (p.Pro553_Leu555del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94015769G>A | CA341281600 | ABCA4 | c.5282C>T (p.Pro1761Leu) c.1658C>T (p.Pro553Leu) | gnomAD v4 |
| 1 | g.94015769G>C | CA16603704 | ABCA4 | c.5282C>G (p.Pro1761Arg) c.1658C>G (p.Pro553Arg) | ClinVar dbSNP |
| 1 | g.94015769G= | CA1181411645 | ABCA4 | c.5282C= (p.Pro1761=) c.1658C= (p.Pro553=) | |
| 1 | g.94015769G>T | CA341281601 | ABCA4 | c.5282C>A (p.Pro1761His) c.1658C>A (p.Pro553His) | |
| 1 | g.94015770G>A | CA341281604 | ABCA4 | c.5281C>T (p.Pro1761Ser) c.1657C>T (p.Pro553Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015770G>C | CA341281602 | ABCA4 | c.5281C>G (p.Pro1761Ala) c.1657C>G (p.Pro553Ala) | |
| 1 | g.94015770G= | CA1181411654 | ABCA4 | c.5281C= (p.Pro1761=) c.1657C= (p.Pro553=) | |
| 1 | g.94015770G>T | CA341281603 | ABCA4 | c.5281C>A (p.Pro1761Thr) c.1657C>A (p.Pro553Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015771A>C | CA418819784 | ABCA4 | c.5280T>G (p.Leu1760=) c.1656T>G (p.Leu552=) | |
| 1 | g.94015771A>G | CA418819781 | ABCA4 | c.5280T>C (p.Leu1760=) c.1656T>C (p.Leu552=) | |
| 1 | g.94015771A>T | CA418819783 | ABCA4 | c.5280T>A (p.Leu1760=) c.1656T>A (p.Leu552=) | |
| 1 | g.94015772A>C | CA341281605 | ABCA4 | c.5279T>G (p.Leu1760Arg) c.1655T>G (p.Leu552Arg) | |
| 1 | g.94015772A>G | CA341281606 | ABCA4 | c.5279T>C (p.Leu1760Pro) c.1655T>C (p.Leu552Pro) | |
| 1 | g.94015772A>T | CA341281607 | ABCA4 | c.5279T>A (p.Leu1760His) c.1655T>A (p.Leu552His) | |
| 1 | g.94015773G>A | CA341281608 | ABCA4 | c.5278C>T (p.Leu1760Phe) c.1654C>T (p.Leu552Phe) | |
| 1 | g.94015773G>C | CA341281609 | ABCA4 | c.5278C>G (p.Leu1760Val) c.1654C>G (p.Leu552Val) | |
| 1 | g.94015773G= | CA1181411658 | ABCA4 | c.5278C= (p.Leu1760=) c.1654C= (p.Leu552=) | |
| 1 | g.94015773G>T | CA957330 | ABCA4 | c.5278C>A (p.Leu1760Ile) c.1654C>A (p.Leu552Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.94015774G>A | CA418819792 | ABCA4 | c.5277C>T (p.Asn1759=) c.1653C>T (p.Asn551=) | dbSNP gnomAD v4 |
| 1 | g.94015774G>C | CA341281610 | ABCA4 | c.5277C>G (p.Asn1759Lys) c.1653C>G (p.Asn551Lys) | |
| 1 | g.94015774G= | CA1181411661 | ABCA4 | c.5277C= (p.Asn1759=) c.1653C= (p.Asn551=) | |
| 1 | g.94015774G>T | CA341281611 | ABCA4 | c.5277C>A (p.Asn1759Lys) c.1653C>A (p.Asn551Lys) | |
| 1 | g.94015775T>A | CA341281612 | ABCA4 | c.5276A>T (p.Asn1759Ile) c.1652A>T (p.Asn551Ile) | |
| 1 | g.94015775T>C | CA341281613 | ABCA4 | c.5276A>G (p.Asn1759Ser) c.1652A>G (p.Asn551Ser) | |
| 1 | g.94015775T>G | CA341281614 | ABCA4 | c.5276A>C (p.Asn1759Thr) c.1652A>C (p.Asn551Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94015775T= | CA1181411663 | ABCA4 | c.5276A= (p.Asn1759=) c.1652A= (p.Asn551=) | |
| 1 | g.94015776T>A | CA341281615 | ABCA4 | c.5275A>T (p.Asn1759Tyr) c.1651A>T (p.Asn551Tyr) | |
| 1 | g.94015776T>C | CA341281617 | ABCA4 | c.5275A>G (p.Asn1759Asp) c.1651A>G (p.Asn551Asp) | |
| 1 | g.94015776T>G | CA341281616 | ABCA4 | c.5275A>C (p.Asn1759His) c.1651A>C (p.Asn551His) | |
| 1 | g.94015777T>A | CA341281618 | ABCA4 | c.5274A>T (p.Glu1758Asp) c.1650A>T (p.Glu550Asp) | |
| 1 | g.94015777T>C | CA418819804 | ABCA4 | c.5274A>G (p.Glu1758=) c.1650A>G (p.Glu550=) | |
| 1 | g.94015777T>G | CA341281619 | ABCA4 | c.5274A>C (p.Glu1758Asp) c.1650A>C (p.Glu550Asp) | |
| 1 | g.94015778T>A | CA341281620 | ABCA4 | c.5273A>T (p.Glu1758Val) c.1649A>T (p.Glu550Val) | |
| 1 | g.94015778T>C | CA957331 | ABCA4 | c.5273A>G (p.Glu1758Gly) c.1649A>G (p.Glu550Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015778T>G | CA341281621 | ABCA4 | c.5273A>C (p.Glu1758Ala) c.1649A>C (p.Glu550Ala) | |
| 1 | g.94015778T= | CA1181411669 | ABCA4 | c.5273A= (p.Glu1758=) c.1649A= (p.Glu550=) | |
| 1 | g.94015779C>A | CA341281624 | ABCA4 | c.5272G>T (p.Glu1758Ter) c.1648G>T (p.Glu550Ter) | |
| 1 | g.94015779C>G | CA341281623 | ABCA4 | c.5272G>C (p.Glu1758Gln) c.1648G>C (p.Glu550Gln) | |
| 1 | g.94015779C>T | CA341281622 | ABCA4 | c.5272G>A (p.Glu1758Lys) c.1648G>A (p.Glu550Lys) | |
| 1 | g.94015780T>A | CA418819818 | ABCA4 | c.5271A>T (p.Pro1757=) c.1647A>T (p.Pro549=) | |
| 1 | g.94015780T>C | CA418819819 | ABCA4 | c.5271A>G (p.Pro1757=) c.1647A>G (p.Pro549=) | |
| 1 | g.94015780T>G | CA418819820 | ABCA4 | c.5271A>C (p.Pro1757=) c.1647A>C (p.Pro549=) | |
| 1 | g.94015781G>A | CA341281625 | ABCA4 | c.5270C>T (p.Pro1757Leu) c.1646C>T (p.Pro549Leu) | |
| 1 | g.94015781G>C | CA341281626 | ABCA4 | c.5270C>G (p.Pro1757Arg) c.1646C>G (p.Pro549Arg) | |
| 1 | g.94015781G>T | CA341281627 | ABCA4 | c.5270C>A (p.Pro1757Gln) c.1646C>A (p.Pro549Gln) | |
| 1 | g.94015782_94015784del | CA2646646887 | ABCA4 | c.5268_5270del (p.Pro1757del) c.1644_1646del (p.Pro549del) | gnomAD v4 |