UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94015761_94015762delinsCA | CA1181411615 | ABCA4 | c.5289_5290delinsTG (p.Leu1763=) c.1665_1666delinsTG (p.Leu555=) | |
| 1 | g.94015761_94015770delinsCAAGGGCAGG | CA1181411614 | ABCA4 | c.5281_5290delinsCCTGCCCTTG (p.Pro1761=) c.1657_1666delinsCCTGCCCTTG (p.Pro553=) | |
| 1 | g.94015762A>C | CA418819740 | ABCA4 | c.5289T>G (p.Leu1763=) c.1665T>G (p.Leu555=) | ClinVar gnomAD v4 |
| 1 | g.94015762A>G | CA418819742 | ABCA4 | c.5289T>C (p.Leu1763=) c.1665T>C (p.Leu555=) | |
| 1 | g.94015762A>T | CA418819744 | ABCA4 | c.5289T>A (p.Leu1763=) c.1665T>A (p.Leu555=) | |
| 1 | g.94015763del | CA645372211 | ABCA4 | c.5289del (p.Val1764TrpfsTer14) c.1665del (p.Val556TrpfsTer14) | ClinVar dbSNP |
| 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.94015763A= | CA1140725881 | ABCA4 | c.5288T= (p.Leu1763=) c.1664T= (p.Leu555=) | |
| 1 | g.94015763A>C | CA341281590 | ABCA4 | c.5288T>G (p.Leu1763Arg) c.1664T>G (p.Leu555Arg) | |
| 1 | g.94015763A>G | CA227295 | ABCA4 | c.5288T>C (p.Leu1763Pro) c.1664T>C (p.Leu555Pro) | ClinVar dbSNP |
| 1 | g.94015763A>T | CA341281591 | ABCA4 | c.5288T>A (p.Leu1763His) c.1664T>A (p.Leu555His) | |
| 1 | g.94015764G>A | CA341281592 | ABCA4 | c.5287C>T (p.Leu1763Phe) c.1663C>T (p.Leu555Phe) | gnomAD v4 |
| 1 | g.94015764G>C | CA341281593 | ABCA4 | c.5287C>G (p.Leu1763Val) c.1663C>G (p.Leu555Val) | |
| 1 | g.94015764G>T | CA341281594 | ABCA4 | c.5287C>A (p.Leu1763Ile) c.1663C>A (p.Leu555Ile) | |
| 1 | g.94015765G>A | CA418819758 | ABCA4 | c.5286C>T (p.Ala1762=) c.1662C>T (p.Ala554=) | |
| 1 | g.94015765G>C | CA418819761 | ABCA4 | c.5286C>G (p.Ala1762=) c.1662C>G (p.Ala554=) | |
| 1 | g.94015765G= | CA1181411630 | ABCA4 | c.5286C= (p.Ala1762=) c.1662C= (p.Ala554=) | |
| 1 | g.94015765G>T | CA957329 | ABCA4 | c.5286C>A (p.Ala1762=) c.1662C>A (p.Ala554=) | dbSNP ExAC gnomAD v4 |
| 1 | g.94015766G>A | CA341281595 | ABCA4 | c.5285C>T (p.Ala1762Val) c.1661C>T (p.Ala554Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015766G>C | CA341281596 | ABCA4 | c.5285C>G (p.Ala1762Gly) c.1661C>G (p.Ala554Gly) | |
| 1 | g.94015766G= | CA1141580919 | ABCA4 | c.5285C= (p.Ala1762=) c.1661C= (p.Ala554=) | |
| 1 | g.94015766G>T | CA119142 | ABCA4 | c.5285C>A (p.Ala1762Asp) c.1661C>A (p.Ala554Asp) | ClinVar dbSNP |
| 1 | g.94015767del | CA2697552507 | ABCA4 | c.5284del (p.Ala1762ProfsTer16) c.1660del (p.Ala554ProfsTer16) | ClinVar |
| 1 | g.94015767C>A | CA341281597 | ABCA4 | c.5284G>T (p.Ala1762Ser) c.1660G>T (p.Ala554Ser) | |
| 1 | g.94015767C>G | CA341281598 | ABCA4 | c.5284G>C (p.Ala1762Pro) c.1660G>C (p.Ala554Pro) | |
| 1 | g.94015767C>T | CA341281599 | ABCA4 | c.5284G>A (p.Ala1762Thr) c.1660G>A (p.Ala554Thr) | |
| 1 | g.94015768A>C | CA418819771 | ABCA4 | c.5283T>G (p.Pro1761=) c.1659T>G (p.Pro553=) | |
| 1 | g.94015768A>G | CA418819773 | ABCA4 | c.5283T>C (p.Pro1761=) c.1659T>C (p.Pro553=) | |
| 1 | g.94015768A>T | CA418819769 | ABCA4 | c.5283T>A (p.Pro1761=) c.1659T>A (p.Pro553=) | 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 |
| 1 | g.94015782G>A | CA341281628 | ABCA4 | c.5269C>T (p.Pro1757Ser) c.1645C>T (p.Pro549Ser) | COSMIC |
| 1 | g.94015782G>C | CA341281629 | ABCA4 | c.5269C>G (p.Pro1757Ala) c.1645C>G (p.Pro549Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015782G= | CA1181411673 | ABCA4 | c.5269C= (p.Pro1757=) c.1645C= (p.Pro549=) | |
| 1 | g.94015782G>T | CA341281630 | ABCA4 | c.5269C>A (p.Pro1757Thr) c.1645C>A (p.Pro549Thr) | |
| 1 | g.94015783A>C | CA418819828 | ABCA4 | c.5268T>G (p.Ser1756=) c.1644T>G (p.Ser548=) | |
| 1 | g.94015783A>G | CA418819830 | ABCA4 | c.5268T>C (p.Ser1756=) c.1644T>C (p.Ser548=) | |
| 1 | g.94015783A>T | CA418819832 | ABCA4 | c.5268T>A (p.Ser1756=) c.1644T>A (p.Ser548=) | |
| 1 | g.94015784G>A | CA341281633 | ABCA4 | c.5267C>T (p.Ser1756Phe) c.1643C>T (p.Ser548Phe) | |
| 1 | g.94015784G>C | CA341281631 | ABCA4 | c.5267C>G (p.Ser1756Cys) c.1643C>G (p.Ser548Cys) | |
| 1 | g.94015784G>T | CA341281632 | ABCA4 | c.5267C>A (p.Ser1756Tyr) c.1643C>A (p.Ser548Tyr) | COSMIC |
| 1 | g.94015785A>C | CA341281634 | ABCA4 | c.5266T>G (p.Ser1756Ala) c.1642T>G (p.Ser548Ala) | |
| 1 | g.94015785A>G | CA341281635 | ABCA4 | c.5266T>C (p.Ser1756Pro) c.1642T>C (p.Ser548Pro) | |
| 1 | g.94015785A>T | CA341281636 | ABCA4 | c.5266T>A (p.Ser1756Thr) c.1642T>A (p.Ser548Thr) | |
| 1 | g.94015786A= | CA1181411675 | ABCA4 | c.5265T= (p.Thr1755=) c.1641T= (p.Thr547=) | |
| 1 | g.94015786A>C | CA418819842 | ABCA4 | c.5265T>G (p.Thr1755=) c.1641T>G (p.Thr547=) | ClinVar gnomAD v4 |
| 1 | g.94015786A>G | CA418819844 | ABCA4 | c.5265T>C (p.Thr1755=) c.1641T>C (p.Thr547=) | |
| 1 | g.94015786A>T | CA418819845 | ABCA4 | c.5265T>A (p.Thr1755=) c.1641T>A (p.Thr547=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015787G>A | CA341281637 | ABCA4 | c.5264C>T (p.Thr1755Ile) c.1640C>T (p.Thr547Ile) | ClinVar dbSNP |
| 1 | g.94015787G>C | CA341281638 | ABCA4 | c.5264C>G (p.Thr1755Ser) c.1640C>G (p.Thr547Ser) | |
| 1 | g.94015787G= | CA1181411677 | ABCA4 | c.5264C= (p.Thr1755=) c.1640C= (p.Thr547=) | |
| 1 | g.94015787G>T | CA341281639 | ABCA4 | c.5264C>A (p.Thr1755Asn) c.1640C>A (p.Thr547Asn) | |
| 1 | g.94015788T>A | CA341281640 | ABCA4 | c.5263A>T (p.Thr1755Ser) c.1639A>T (p.Thr547Ser) | |
| 1 | g.94015788T>C | CA341281641 | ABCA4 | c.5263A>G (p.Thr1755Ala) c.1639A>G (p.Thr547Ala) | |
| 1 | g.94015788T>G | CA341281642 | ABCA4 | c.5263A>C (p.Thr1755Pro) c.1639A>C (p.Thr547Pro) | |
| 1 | g.94015789G>A | CA957332 | ABCA4 | c.5262C>T (p.Tyr1754=) c.1638C>T (p.Tyr546=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94015789G>C | CA341281643 | ABCA4 | c.5262C>G (p.Tyr1754Ter) c.1638C>G (p.Tyr546Ter) | |
| 1 | g.94015789G= | CA1181411680 | ABCA4 | c.5262C= (p.Tyr1754=) c.1638C= (p.Tyr546=) | |
| 1 | g.94015789G>T | CA341281644 | ABCA4 | c.5262C>A (p.Tyr1754Ter) c.1638C>A (p.Tyr546Ter) | |
| 1 | g.94015790T>A | CA341281645 | ABCA4 | c.5261A>T (p.Tyr1754Phe) c.1637A>T (p.Tyr546Phe) | |
| 1 | g.94015790T>C | CA341281647 | ABCA4 | c.5261A>G (p.Tyr1754Cys) c.1637A>G (p.Tyr546Cys) | |
| 1 | g.94015790T>G | CA341281646 | ABCA4 | c.5261A>C (p.Tyr1754Ser) c.1637A>C (p.Tyr546Ser) | |
| 1 | g.94015791A>C | CA341281648 | ABCA4 | c.5260T>G (p.Tyr1754Asp) c.1636T>G (p.Tyr546Asp) | ClinVar gnomAD v4 |
| 1 | g.94015791A>G | CA341281649 | ABCA4 | c.5260T>C (p.Tyr1754His) c.1636T>C (p.Tyr546His) | |
| 1 | g.94015791A>T | CA341281650 | ABCA4 | c.5260T>A (p.Tyr1754Asn) c.1636T>A (p.Tyr546Asn) | |
| 1 | g.94015792G>A | CA418819862 | ABCA4 | c.5259C>T (p.Ala1753=) c.1635C>T (p.Ala545=) | |
| 1 | g.94015792G>C | CA418819864 | ABCA4 | c.5259C>G (p.Ala1753=) c.1635C>G (p.Ala545=) | gnomAD v4 |
| 1 | g.94015792G>T | CA418819866 | ABCA4 | c.5259C>A (p.Ala1753=) c.1635C>A (p.Ala545=) | |
| 1 | g.94015793G>A | CA341281651 | ABCA4 | c.5258C>T (p.Ala1753Val) c.1634C>T (p.Ala545Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015793G>C | CA341281652 | ABCA4 | c.5258C>G (p.Ala1753Gly) c.1634C>G (p.Ala545Gly) | |
| 1 | g.94015793G= | CA1181411684 | ABCA4 | c.5258C= (p.Ala1753=) c.1634C= (p.Ala545=) | |
| 1 | g.94015793G>T | CA341281653 | ABCA4 | c.5258C>A (p.Ala1753Asp) c.1634C>A (p.Ala545Asp) | gnomAD v4 |
| 1 | g.94015794C>A | CA341281654 | ABCA4 | c.5257G>T (p.Ala1753Ser) c.1633G>T (p.Ala545Ser) | |
| 1 | g.94015794C>G | CA341281655 | ABCA4 | c.5257G>C (p.Ala1753Pro) c.1633G>C (p.Ala545Pro) | gnomAD v4 |
| 1 | g.94015794C>T | CA341281656 | ABCA4 | c.5257G>A (p.Ala1753Thr) c.1633G>A (p.Ala545Thr) | |
| 1 | g.94015795T>A | CA341281657 | ABCA4 | c.5256A>T (p.Lys1752Asn) c.1632A>T (p.Lys544Asn) | |
| 1 | g.94015795T>C | CA418819875 | ABCA4 | c.5256A>G (p.Lys1752=) c.1632A>G (p.Lys544=) | |
| 1 | g.94015795T>G | CA341281658 | ABCA4 | c.5256A>C (p.Lys1752Asn) c.1632A>C (p.Lys544Asn) | |
| 1 | g.94015796T>A | CA341281660 | ABCA4 | c.5255A>T (p.Lys1752Ile) c.1631A>T (p.Lys544Ile) | |
| 1 | g.94015796T>C | CA341281659 | ABCA4 | c.5255A>G (p.Lys1752Arg) c.1631A>G (p.Lys544Arg) | |
| 1 | g.94015796T>G | CA957333 | ABCA4 | c.5255A>C (p.Lys1752Thr) c.1631A>C (p.Lys544Thr) | dbSNP ExAC gnomAD v2 |
| 1 | g.94015796T= | CA1181411687 | ABCA4 | c.5255A= (p.Lys1752=) c.1631A= (p.Lys544=) | |
| 1 | g.94015797T>A | CA341281661 | ABCA4 | c.5254A>T (p.Lys1752Ter) c.1630A>T (p.Lys544Ter) | |
| 1 | g.94015797T>C | CA341281662 | ABCA4 | c.5254A>G (p.Lys1752Glu) c.1630A>G (p.Lys544Glu) | |
| 1 | g.94015797T>G | CA341281663 | ABCA4 | c.5254A>C (p.Lys1752Gln) c.1630A>C (p.Lys544Gln) | |
| 1 | g.94015798C>A | CA341281664 | ABCA4 | c.5253G>T (p.Lys1751Asn) c.1629G>T (p.Lys543Asn) | |
| 1 | g.94015798C= | CA1181411690 | ABCA4 | c.5253G= (p.Lys1751=) c.1629G= (p.Lys543=) | |
| 1 | g.94015798C>G | CA341281665 | ABCA4 | c.5253G>C (p.Lys1751Asn) c.1629G>C (p.Lys543Asn) | |
| 1 | g.94015798C>T | CA418819887 | ABCA4 | c.5253G>A (p.Lys1751=) c.1629G>A (p.Lys543=) | dbSNP gnomAD v2 |
| 1 | g.94015799T>A | CA341281666 | ABCA4 | c.5252A>T (p.Lys1751Met) c.1628A>T (p.Lys543Met) | |
| 1 | g.94015799T>C | CA341281667 | ABCA4 | c.5252A>G (p.Lys1751Arg) c.1628A>G (p.Lys543Arg) | |
| 1 | g.94015799T>G | CA341281668 | ABCA4 | c.5252A>C (p.Lys1751Thr) c.1628A>C (p.Lys543Thr) | |
| 1 | g.94015800T>A | CA341281669 | ABCA4 | c.5251A>T (p.Lys1751Ter) c.1627A>T (p.Lys543Ter) | |
| 1 | g.94015800T>C | CA341281670 | ABCA4 | c.5251A>G (p.Lys1751Glu) c.1627A>G (p.Lys543Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015800T>G | CA341281671 | ABCA4 | c.5251A>C (p.Lys1751Gln) c.1627A>C (p.Lys543Gln) | |
| 1 | g.94015800T= | CA1181411693 | ABCA4 | c.5251A= (p.Lys1751=) c.1627A= (p.Lys543=) | |
| 1 | g.94015801C>A | CA341281672 | ABCA4 | c.5250G>T (p.Gln1750His) c.1626G>T (p.Gln542His) | |
| 1 | g.94015801C>G | CA341281673 | ABCA4 | c.5250G>C (p.Gln1750His) c.1626G>C (p.Gln542His) | |
| 1 | g.94015801C>T | CA418819893 | ABCA4 | c.5250G>A (p.Gln1750=) c.1626G>A (p.Gln542=) | |
| 1 | g.94015802T>A | CA341281675 | ABCA4 | c.5249A>T (p.Gln1750Leu) c.1625A>T (p.Gln542Leu) | |
| 1 | g.94015802T>C | CA341281676 | ABCA4 | c.5249A>G (p.Gln1750Arg) c.1625A>G (p.Gln542Arg) | gnomAD v4 |
| 1 | g.94015802T>G | CA341281674 | ABCA4 | c.5249A>C (p.Gln1750Pro) c.1625A>C (p.Gln542Pro) | |
| 1 | g.94015803G>A | CA227291 | ABCA4 | c.5248C>T (p.Gln1750Ter) c.1624C>T (p.Gln542Ter) | ClinVar dbSNP |
| 1 | g.94015803G>C | CA341281677 | ABCA4 | c.5248C>G (p.Gln1750Glu) c.1624C>G (p.Gln542Glu) | |
| 1 | g.94015803G= | CA1140725884 | ABCA4 | c.5248C= (p.Gln1750=) c.1624C= (p.Gln542=) | |
| 1 | g.94015803G>T | CA341281678 | ABCA4 | c.5248C>A (p.Gln1750Lys) c.1624C>A (p.Gln542Lys) | |
| 1 | g.94015804A>C | CA341281679 | ABCA4 | c.5247T>G (p.Phe1749Leu) c.1623T>G (p.Phe541Leu) | |
| 1 | g.94015804A>G | CA418819902 | ABCA4 | c.5247T>C (p.Phe1749=) c.1623T>C (p.Phe541=) | |
| 1 | g.94015804A>T | CA341281680 | ABCA4 | c.5247T>A (p.Phe1749Leu) c.1623T>A (p.Phe541Leu) | |
| 1 | g.94015805A>C | CA341281681 | ABCA4 | c.5246T>G (p.Phe1749Cys) c.1622T>G (p.Phe541Cys) | |
| 1 | g.94015805A>G | CA341281683 | ABCA4 | c.5246T>C (p.Phe1749Ser) c.1622T>C (p.Phe541Ser) | |
| 1 | g.94015805A>T | CA341281682 | ABCA4 | c.5246T>A (p.Phe1749Tyr) c.1622T>A (p.Phe541Tyr) | |
| 1 | g.94015806A>C | CA341281684 | ABCA4 | c.5245T>G (p.Phe1749Val) c.1621T>G (p.Phe541Val) | |
| 1 | g.94015806A>G | CA341281685 | ABCA4 | c.5245T>C (p.Phe1749Leu) c.1621T>C (p.Phe541Leu) | |
| 1 | g.94015806A>T | CA341281686 | ABCA4 | c.5245T>A (p.Phe1749Ile) c.1621T>A (p.Phe541Ile) | |
| 1 | g.94015807C>A | CA418819913 | ABCA4 | c.5244G>T (p.Gly1748=) c.1620G>T (p.Gly540=) | |
| 1 | g.94015807C>G | CA418819915 | ABCA4 | c.5244G>C (p.Gly1748=) c.1620G>C (p.Gly540=) | |
| 1 | g.94015807C>T | CA418819916 | ABCA4 | c.5244G>A (p.Gly1748=) c.1620G>A (p.Gly540=) | ClinVar |
| 1 | g.94015808C>A | CA341281687 | ABCA4 | c.5243G>T (p.Gly1748Val) c.1619G>T (p.Gly540Val) | |
| 1 | g.94015808C= | CA1181411700 | ABCA4 | c.5243G= (p.Gly1748=) c.1619G= (p.Gly540=) | |
| 1 | g.94015808C>G | CA341281688 | ABCA4 | c.5243G>C (p.Gly1748Ala) c.1619G>C (p.Gly540Ala) | |
| 1 | g.94015808C>T | CA341281689 | ABCA4 | c.5243G>A (p.Gly1748Glu) c.1619G>A (p.Gly540Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015809C>A | CA957334 | ABCA4 | c.5242G>T (p.Gly1748Trp) c.1618G>T (p.Gly540Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.94015809C= | CA1140725886 | ABCA4 | c.5242G= (p.Gly1748=) c.1618G= (p.Gly540=) | |
| 1 | g.94015809C>G | CA341281690 | ABCA4 | c.5242G>C (p.Gly1748Arg) c.1618G>C (p.Gly540Arg) | |
| 1 | g.94015809C>T | CA227290 | ABCA4 | c.5242G>A (p.Gly1748Arg) c.1618G>A (p.Gly540Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015810G>A | CA957335 | ABCA4 | c.5241C>T (p.Ile1747=) c.1617C>T (p.Ile539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94015810G>C | CA341281691 | ABCA4 | c.5241C>G (p.Ile1747Met) c.1617C>G (p.Ile539Met) | |
| 1 | g.94015810G= | CA1145849846 | ABCA4 | c.5241C= (p.Ile1747=) c.1617C= (p.Ile539=) | |
| 1 | g.94015810G>T | CA418819935 | ABCA4 | c.5241C>A (p.Ile1747=) c.1617C>A (p.Ile539=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015811A= | CA1144208887 | ABCA4 | c.5240T= (p.Ile1747=) c.1616T= (p.Ile539=) | |
| 1 | g.94015811A>C | CA341281692 | ABCA4 | c.5240T>G (p.Ile1747Ser) c.1616T>G (p.Ile539Ser) | |
| 1 | g.94015811A>G | CA957336 | ABCA4 | c.5240T>C (p.Ile1747Thr) c.1616T>C (p.Ile539Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015811A>T | CA341281693 | ABCA4 | c.5240T>A (p.Ile1747Asn) c.1616T>A (p.Ile539Asn) | |
| 1 | g.94015812T>A | CA341281695 | ABCA4 | c.5239A>T (p.Ile1747Phe) c.1615A>T (p.Ile539Phe) | gnomAD v4 |
| 1 | g.94015812T>C | CA957337 | ABCA4 | c.5239A>G (p.Ile1747Val) c.1615A>G (p.Ile539Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.94015812T>G | CA341281694 | ABCA4 | c.5239A>C (p.Ile1747Leu) c.1615A>C (p.Ile539Leu) | gnomAD v4 |
| 1 | g.94015812T= | CA1148252330 | ABCA4 | c.5239A= (p.Ile1747=) c.1615A= (p.Ile539=) | |
| 1 | g.94015813G>A | CA418819945 | ABCA4 | c.5238C>T (p.Phe1746=) c.1614C>T (p.Phe538=) | gnomAD v4 COSMIC |
| 1 | g.94015813G>C | CA341281696 | ABCA4 | c.5238C>G (p.Phe1746Leu) c.1614C>G (p.Phe538Leu) | |
| 1 | g.94015813G>T | CA341281697 | ABCA4 | c.5238C>A (p.Phe1746Leu) c.1614C>A (p.Phe538Leu) | |
| 1 | g.94015814A>C | CA341281698 | ABCA4 | c.5237T>G (p.Phe1746Cys) c.1613T>G (p.Phe538Cys) | |
| 1 | g.94015814A>G | CA341281699 | ABCA4 | c.5237T>C (p.Phe1746Ser) c.1613T>C (p.Phe538Ser) | gnomAD v4 |
| 1 | g.94015814A>T | CA341281700 | ABCA4 | c.5237T>A (p.Phe1746Tyr) c.1613T>A (p.Phe538Tyr) | |
| 1 | g.94015815A>C | CA341281701 | ABCA4 | c.5236T>G (p.Phe1746Val) c.1612T>G (p.Phe538Val) | |
| 1 | g.94015815A>G | CA341281702 | ABCA4 | c.5236T>C (p.Phe1746Leu) c.1612T>C (p.Phe538Leu) | |
| 1 | g.94015815A>T | CA341281703 | ABCA4 | c.5236T>A (p.Phe1746Ile) c.1612T>A (p.Phe538Ile) | |
| 1 | g.94015816G>A | CA418819957 | ABCA4 | c.5235C>T (p.Ile1745=) c.1611C>T (p.Ile537=) | |
| 1 | g.94015816G>C | CA957338 | ABCA4 | c.5235C>G (p.Ile1745Met) c.1611C>G (p.Ile537Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015816G= | CA1181411724 | ABCA4 | c.5235C= (p.Ile1745=) c.1611C= (p.Ile537=) | |
| 1 | g.94015816G>T | CA418819959 | ABCA4 | c.5235C>A (p.Ile1745=) c.1611C>A (p.Ile537=) | |
| 1 | g.94015817A= | CA1181411731 | ABCA4 | c.5234T= (p.Ile1745=) c.1610T= (p.Ile537=) | |
| 1 | g.94015817A>C | CA341281704 | ABCA4 | c.5234T>G (p.Ile1745Ser) c.1610T>G (p.Ile537Ser) | |
| 1 | g.94015817A>G | CA341281705 | ABCA4 | c.5234T>C (p.Ile1745Thr) c.1610T>C (p.Ile537Thr) | |
| 1 | g.94015817A>T | CA341281706 | ABCA4 | c.5234T>A (p.Ile1745Asn) c.1610T>A (p.Ile537Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015817_94015827del | CA645372210 | ABCA4 | c.5224_5234del (p.Val1742LeufsTer?) c.1600_1610del (p.Val534LeufsTer?) | |
| 1 | g.94015817_94015828delinsATGCCCACCACC | CA1181411728 | ABCA4 | c.5223_5234delinsGGTGGTGGGCAT (p.Leu1741=) c.1599_1610delinsGGTGGTGGGCAT (p.Leu533=) | |
| 1 | g.94015818T>A | CA341281707 | ABCA4 | c.5233A>T (p.Ile1745Phe) c.1609A>T (p.Ile537Phe) | |
| 1 | g.94015818T>C | CA957339 | ABCA4 | c.5233A>G (p.Ile1745Val) c.1609A>G (p.Ile537Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94015818T>G | CA341281708 | ABCA4 | c.5233A>C (p.Ile1745Leu) c.1609A>C (p.Ile537Leu) | |
| 1 | g.94015818T= | CA1181411744 | ABCA4 | c.5233A= (p.Ile1745=) c.1609A= (p.Ile537=) | |
| 1 | g.94015818_94015828del | CA227289 | ABCA4 | c.5223_5233del (p.Val1742LeufsTer?) c.1599_1609del (p.Val534LeufsTer?) | ClinVar dbSNP |
| 1 | g.94015818_94015828delinsTGCCCACCACC | CA1140725888 | ABCA4 | c.5223_5233delinsGGTGGTGGGCA (p.Leu1741=) c.1599_1609delinsGGTGGTGGGCA (p.Leu533=) | |
| 1 | g.94015818_94015829delinsTGCCCACCACCA | CA1181411743 | ABCA4 | c.5222_5233delinsTGGTGGTGGGCA (p.Leu1741=) c.1598_1609delinsTGGTGGTGGGCA (p.Leu533=) | |
| 1 | g.94015819G>A | CA418819971 | ABCA4 | c.5232C>T (p.Gly1744=) c.1608C>T (p.Gly536=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015819G>C | CA418819973 | ABCA4 | c.5232C>G (p.Gly1744=) c.1608C>G (p.Gly536=) | |
| 1 | g.94015819G= | CA1181411746 | ABCA4 | c.5232C= (p.Gly1744=) c.1608C= (p.Gly536=) | |
| 1 | g.94015819G>T | CA418819976 | ABCA4 | c.5232C>A (p.Gly1744=) c.1608C>A (p.Gly536=) | |
| 1 | g.94015819_94015834delinsGCCCACCACCAGCCCA | CA1140725891 | ABCA4 | c.5217_5232delinsTGGGCTGGTGGTGGGC (p.Ala1739=) c.1593_1608delinsTGGGCTGGTGGTGGGC (p.Ala531=) | |
| 1 | g.94015824_94015834del | CA227288 | ABCA4 | c.5222_5232del (p.Leu1741HisfsTer?) c.1598_1608del (p.Leu533HisfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015820C>A | CA341281709 | ABCA4 | c.5231G>T (p.Gly1744Val) c.1607G>T (p.Gly536Val) | |
| 1 | g.94015820C>G | CA341281710 | ABCA4 | c.5231G>C (p.Gly1744Ala) c.1607G>C (p.Gly536Ala) | |
| 1 | g.94015820C>T | CA341281711 | ABCA4 | c.5231G>A (p.Gly1744Asp) c.1607G>A (p.Gly536Asp) | ClinVar |
| 1 | g.94015821C>A | CA341281712 | ABCA4 | c.5230G>T (p.Gly1744Cys) c.1606G>T (p.Gly536Cys) | |
| 1 | g.94015821C>G | CA341281713 | ABCA4 | c.5230G>C (p.Gly1744Arg) c.1606G>C (p.Gly536Arg) | |
| 1 | g.94015821C>T | CA341281714 | ABCA4 | c.5230G>A (p.Gly1744Ser) c.1606G>A (p.Gly536Ser) | |
| 1 | g.94015822C>A | CA418819980 | ABCA4 | c.5229G>T (p.Val1743=) c.1605G>T (p.Val535=) | |
| 1 | g.94015822C>G | CA418819985 | ABCA4 | c.5229G>C (p.Val1743=) c.1605G>C (p.Val535=) | |
| 1 | g.94015822C>T | CA418819987 | ABCA4 | c.5229G>A (p.Val1743=) c.1605G>A (p.Val535=) | |
| 1 | g.94015823A= | CA1181411748 | ABCA4 | c.5228T= (p.Val1743=) c.1604T= (p.Val535=) | |
| 1 | g.94015823A>C | CA341281715 | ABCA4 | c.5228T>G (p.Val1743Gly) c.1604T>G (p.Val535Gly) | |
| 1 | g.94015823A>G | CA341281716 | ABCA4 | c.5228T>C (p.Val1743Ala) c.1604T>C (p.Val535Ala) | dbSNP |
| 1 | g.94015823A>T | CA341281717 | ABCA4 | c.5228T>A (p.Val1743Glu) c.1604T>A (p.Val535Glu) | |
| 1 | g.94015824C>A | CA341281720 | ABCA4 | c.5227G>T (p.Val1743Leu) c.1603G>T (p.Val535Leu) | gnomAD v4 |
| 1 | g.94015824C>G | CA341281719 | ABCA4 | c.5227G>C (p.Val1743Leu) c.1603G>C (p.Val535Leu) | |
| 1 | g.94015824C>T | CA341281718 | ABCA4 | c.5227G>A (p.Val1743Met) c.1603G>A (p.Val535Met) | gnomAD v4 |
| 1 | g.94015825C>A | CA418819997 | ABCA4 | c.5226G>T (p.Val1742=) c.1602G>T (p.Val534=) | ClinVar dbSNP |
| 1 | g.94015825C= | CA1181411750 | ABCA4 | c.5226G= (p.Val1742=) c.1602G= (p.Val534=) | |
| 1 | g.94015825C>G | CA418819999 | ABCA4 | c.5226G>C (p.Val1742=) c.1602G>C (p.Val534=) | COSMIC COSMIC |
| 1 | g.94015825C>T | CA418820000 | ABCA4 | c.5226G>A (p.Val1742=) c.1602G>A (p.Val534=) | COSMIC |
| 1 | g.94015826A>C | CA341281721 | ABCA4 | c.5225T>G (p.Val1742Gly) c.1601T>G (p.Val534Gly) | |
| 1 | g.94015826A>G | CA341281722 | ABCA4 | c.5225T>C (p.Val1742Ala) c.1601T>C (p.Val534Ala) | |
| 1 | g.94015826A>T | CA341281723 | ABCA4 | c.5225T>A (p.Val1742Glu) c.1601T>A (p.Val534Glu) | |
| 1 | g.94015827C>A | CA341281724 | ABCA4 | c.5224G>T (p.Val1742Leu) c.1600G>T (p.Val534Leu) | |
| 1 | g.94015827C= | CA1181411752 | ABCA4 | c.5224G= (p.Val1742=) c.1600G= (p.Val534=) | |
| 1 | g.94015827C>G | CA341281725 | ABCA4 | c.5224G>C (p.Val1742Leu) c.1600G>C (p.Val534Leu) | gnomAD v4 |
| 1 | g.94015827C>T | CA341281726 | ABCA4 | c.5224G>A (p.Val1742Met) c.1600G>A (p.Val534Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015828C>A | CA418820009 | ABCA4 | c.5223G>T (p.Leu1741=) c.1599G>T (p.Leu533=) | |
| 1 | g.94015828C>G | CA418820011 | ABCA4 | c.5223G>C (p.Leu1741=) c.1599G>C (p.Leu533=) | |
| 1 | g.94015828C>T | CA418820013 | ABCA4 | c.5223G>A (p.Leu1741=) c.1599G>A (p.Leu533=) | |
| 1 | g.94015828_94015839delinsCAGCCCAGCACT | CA1181411754 | ABCA4 | c.5212_5223delinsAGTGCTGGGCTG (p.Ser1738=) c.1588_1599delinsAGTGCTGGGCTG (p.Ser530=) | |
| 1 | g.94015829A>C | CA341281727 | ABCA4 | c.5222T>G (p.Leu1741Arg) c.1598T>G (p.Leu533Arg) | |
| 1 | g.94015829A>G | CA341281728 | ABCA4 | c.5222T>C (p.Leu1741Pro) c.1598T>C (p.Leu533Pro) | gnomAD v4 |
| 1 | g.94015829A>T | CA341281729 | ABCA4 | c.5222T>A (p.Leu1741Gln) c.1598T>A (p.Leu533Gln) | |
| 1 | g.94015829_94015839del | CA227287 | ABCA4 | c.5212_5222del (p.Ser1738GlyfsTer?) c.1588_1598del (p.Ser530GlyfsTer?) | ClinVar dbSNP |
| 1 | g.94015829_94015839delinsAGCCCAGCACT | CA1143538142 | ABCA4 | c.5212_5222delinsAGTGCTGGGCT (p.Ser1738=) c.1588_1598delinsAGTGCTGGGCT (p.Ser530=) | |
| 1 | g.94015830G>A | CA418820017 | ABCA4 | c.5221C>T (p.Leu1741=) c.1597C>T (p.Leu533=) | |
| 1 | g.94015830G>C | CA341281730 | ABCA4 | c.5221C>G (p.Leu1741Val) c.1597C>G (p.Leu533Val) | |
| 1 | g.94015830G>T | CA341281731 | ABCA4 | c.5221C>A (p.Leu1741Met) c.1597C>A (p.Leu533Met) | |
| 1 | g.94015831C>A | CA418820022 | ABCA4 | c.5220G>T (p.Gly1740=) c.1596G>T (p.Gly532=) | |
| 1 | g.94015831C>G | CA418820024 | ABCA4 | c.5220G>C (p.Gly1740=) c.1596G>C (p.Gly532=) | |
| 1 | g.94015831C>T | CA418820020 | ABCA4 | c.5220G>A (p.Gly1740=) c.1596G>A (p.Gly532=) | |
| 1 | g.94015832C>A | CA341281733 | ABCA4 | c.5219G>T (p.Gly1740Val) c.1595G>T (p.Gly532Val) | |
| 1 | g.94015832C= | CA1181411758 | ABCA4 | c.5219G= (p.Gly1740=) c.1595G= (p.Gly532=) | |
| 1 | g.94015832C>G | CA341281732 | ABCA4 | c.5219G>C (p.Gly1740Ala) c.1595G>C (p.Gly532Ala) | |
| 1 | g.94015832C>T | CA244860 | ABCA4 | c.5219G>A (p.Gly1740Glu) c.1595G>A (p.Gly532Glu) | ClinVar dbSNP |
| 1 | g.94015833C>A | CA341281734 | ABCA4 | c.5218G>T (p.Gly1740Trp) c.1594G>T (p.Gly532Trp) | dbSNP gnomAD v2 |
| 1 | g.94015833C= | CA1181411764 | ABCA4 | c.5218G= (p.Gly1740=) c.1594G= (p.Gly532=) | |
| 1 | g.94015833C>G | CA341281736 | ABCA4 | c.5218G>C (p.Gly1740Arg) c.1594G>C (p.Gly532Arg) | |
| 1 | g.94015833C>T | CA341281735 | ABCA4 | c.5218G>A (p.Gly1740Arg) c.1594G>A (p.Gly532Arg) | |
| 1 | g.94015835_94015837dup | CA2586964128 | ABCA4 | c.5216_5218dup (p.Ala1739_Gly1740insAla) c.1592_1594dup (p.Ala531_Gly532insAla) | |
| 1 | g.94015834A= | CA1181411766 | ABCA4 | c.5217T= (p.Ala1739=) c.1593T= (p.Ala531=) | |
| 1 | g.94015834A>C | CA418820037 | ABCA4 | c.5217T>G (p.Ala1739=) c.1593T>G (p.Ala531=) | |
| 1 | g.94015834A>G | CA957340 | ABCA4 | c.5217T>C (p.Ala1739=) c.1593T>C (p.Ala531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94015834A>T | CA418820035 | ABCA4 | c.5217T>A (p.Ala1739=) c.1593T>A (p.Ala531=) | |
| 1 | g.94015835G>A | CA341281737 | ABCA4 | c.5216C>T (p.Ala1739Val) c.1592C>T (p.Ala531Val) | dbSNP |
| 1 | g.94015835G>C | CA341281738 | ABCA4 | c.5216C>G (p.Ala1739Gly) c.1592C>G (p.Ala531Gly) | |
| 1 | g.94015835G= | CA1181411769 | ABCA4 | c.5216C= (p.Ala1739=) c.1592C= (p.Ala531=) | |
| 1 | g.94015835G>T | CA341281739 | ABCA4 | c.5216C>A (p.Ala1739Asp) c.1592C>A (p.Ala531Asp) | |
| 1 | g.94015836C>A | CA341281740 | ABCA4 | c.5215G>T (p.Ala1739Ser) c.1591G>T (p.Ala531Ser) | |
| 1 | g.94015836C>G | CA341281741 | ABCA4 | c.5215G>C (p.Ala1739Pro) c.1591G>C (p.Ala531Pro) | |
| 1 | g.94015836C>T | CA341281742 | ABCA4 | c.5215G>A (p.Ala1739Thr) c.1591G>A (p.Ala531Thr) | |
| 1 | g.94015837A= | CA1181411772 | ABCA4 | c.5214T= (p.Ser1738=) c.1590T= (p.Ser530=) | |
| 1 | g.94015837A>C | CA341281743 | ABCA4 | c.5214T>G (p.Ser1738Arg) c.1590T>G (p.Ser530Arg) | gnomAD v4 |
| 1 | g.94015837A>G | CA957341 | ABCA4 | c.5214T>C (p.Ser1738=) c.1590T>C (p.Ser530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94015837A>T | CA341281745 | ABCA4 | c.5214T>A (p.Ser1738Arg) c.1590T>A (p.Ser530Arg) | |
| 1 | g.94015838C>A | CA341281750 | ABCA4 | c.5213G>T (p.Ser1738Ile) c.1589G>T (p.Ser530Ile) | |
| 1 | g.94015838C>G | CA341281749 | ABCA4 | c.5213G>C (p.Ser1738Thr) c.1589G>C (p.Ser530Thr) | |
| 1 | g.94015838C>T | CA341281747 | ABCA4 | c.5213G>A (p.Ser1738Asn) c.1589G>A (p.Ser530Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015839T>A | CA341281751 | ABCA4 | c.5212A>T (p.Ser1738Cys) c.1588A>T (p.Ser530Cys) | gnomAD v4 |
| 1 | g.94015839T>C | CA341281753 | ABCA4 | c.5212A>G (p.Ser1738Gly) c.1588A>G (p.Ser530Gly) | |
| 1 | g.94015839T>G | CA341281754 | ABCA4 | c.5212A>C (p.Ser1738Arg) c.1588A>C (p.Ser530Arg) | |
| 1 | g.94015840C>A | CA418820059 | ABCA4 | c.5211G>T (p.Val1737=) c.1587G>T (p.Val529=) | |
| 1 | g.94015840C= | CA1181411776 | ABCA4 | c.5211G= (p.Val1737=) c.1587G= (p.Val529=) | |
| 1 | g.94015840C>G | CA418820061 | ABCA4 | c.5211G>C (p.Val1737=) c.1587G>C (p.Val529=) | |
| 1 | g.94015840C>T | CA957342 | ABCA4 | c.5211G>A (p.Val1737=) c.1587G>A (p.Val529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94015841del | CA2499214878 | ABCA4 | c.5210del (p.Val1737GlyfsTer?) c.1586del (p.Val529GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94015841A>C | CA341281757 | ABCA4 | c.5210T>G (p.Val1737Gly) c.1586T>G (p.Val529Gly) | |
| 1 | g.94015841A>G | CA341281759 | ABCA4 | c.5210T>C (p.Val1737Ala) c.1586T>C (p.Val529Ala) | |
| 1 | g.94015841A>T | CA341281761 | ABCA4 | c.5210T>A (p.Val1737Glu) c.1586T>A (p.Val529Glu) | |
| 1 | g.94015842C>A | CA341281763 | ABCA4 | c.5209G>T (p.Val1737Leu) c.1585G>T (p.Val529Leu) | gnomAD v4 |
| 1 | g.94015842C= | CA1181411779 | ABCA4 | c.5209G= (p.Val1737=) c.1585G= (p.Val529=) | |
| 1 | g.94015842C>G | CA341281764 | ABCA4 | c.5209G>C (p.Val1737Leu) c.1585G>C (p.Val529Leu) | |
| 1 | g.94015842C>T | CA957343 | ABCA4 | c.5209G>A (p.Val1737Met) c.1585G>A (p.Val529Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015843G>A | CA957344 | ABCA4 | c.5208C>T (p.Ser1736=) c.1584C>T (p.Ser528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94015843G>C | CA418820072 | ABCA4 | c.5208C>G (p.Ser1736=) c.1584C>G (p.Ser528=) | gnomAD v4 |
| 1 | g.94015843G= | CA1181411782 | ABCA4 | c.5208C= (p.Ser1736=) c.1584C= (p.Ser528=) | |
| 1 | g.94015843G>T | CA957345 | ABCA4 | c.5208C>A (p.Ser1736=) c.1584C>A (p.Ser528=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94015844G>A | CA26842569 | ABCA4 | c.5207C>T (p.Ser1736Phe) c.1583C>T (p.Ser528Phe) | dbSNP |
| 1 | g.94015844G>C | CA341281771 | ABCA4 | c.5207C>G (p.Ser1736Cys) c.1583C>G (p.Ser528Cys) | |
| 1 | g.94015844G= | CA1181411787 | ABCA4 | c.5207C= (p.Ser1736=) c.1583C= (p.Ser528=) | |
| 1 | g.94015844G>T | CA341281769 | ABCA4 | c.5207C>A (p.Ser1736Tyr) c.1583C>A (p.Ser528Tyr) | |
| 1 | g.94015845A= | CA1140725893 | ABCA4 | c.5206T= (p.Ser1736=) c.1582T= (p.Ser528=) | |
| 1 | g.94015845A>C | CA341281774 | ABCA4 | c.5206T>G (p.Ser1736Ala) c.1582T>G (p.Ser528Ala) | |
| 1 | g.94015845A>G | CA227286 | ABCA4 | c.5206T>C (p.Ser1736Pro) c.1582T>C (p.Ser528Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015845A>T | CA341281776 | ABCA4 | c.5206T>A (p.Ser1736Thr) c.1582T>A (p.Ser528Thr) | |
| 1 | g.94015846A>C | CA341281778 | ABCA4 | c.5205T>G (p.Tyr1735Ter) c.1581T>G (p.Tyr527Ter) | |
| 1 | g.94015846A>G | CA418820087 | ABCA4 | c.5205T>C (p.Tyr1735=) c.1581T>C (p.Tyr527=) | |
| 1 | g.94015846A>T | CA341281780 | ABCA4 | c.5205T>A (p.Tyr1735Ter) c.1581T>A (p.Tyr527Ter) | |
| 1 | g.94015847T>A | CA341281782 | ABCA4 | c.5204A>T (p.Tyr1735Phe) c.1580A>T (p.Tyr527Phe) | |
| 1 | g.94015847T>C | CA341281784 | ABCA4 | c.5204A>G (p.Tyr1735Cys) c.1580A>G (p.Tyr527Cys) | |
| 1 | g.94015847T>G | CA341281785 | ABCA4 | c.5204A>C (p.Tyr1735Ser) c.1580A>C (p.Tyr527Ser) | |
| 1 | g.94015847_94015848delinsTA | CA1181411796 | ABCA4 | c.5203_5204delinsTA (p.Tyr1735=) c.1579_1580delinsTA (p.Tyr527=) | |
| 1 | g.94015848A>C | CA341281787 | ABCA4 | c.5203T>G (p.Tyr1735Asp) c.1579T>G (p.Tyr527Asp) | |
| 1 | g.94015848A>G | CA341281789 | ABCA4 | c.5203T>C (p.Tyr1735His) c.1579T>C (p.Tyr527His) | |
| 1 | g.94015848A>T | CA341281791 | ABCA4 | c.5203T>A (p.Tyr1735Asn) c.1579T>A (p.Tyr527Asn) | |
| 1 | g.94015849del | CA501081 | ABCA4 | c.5203del (p.Tyr1735IlefsTer3) c.1579del (p.Tyr527IlefsTer3) | ClinVar dbSNP |
| 1 | g.94015849A>C | CA341281794 | ABCA4 | c.5202T>G (p.Asn1734Lys) c.1578T>G (p.Asn526Lys) | |
| 1 | g.94015849A>G | CA418820109 | ABCA4 | c.5202T>C (p.Asn1734=) c.1578T>C (p.Asn526=) | |
| 1 | g.94015849A>T | CA341281795 | ABCA4 | c.5202T>A (p.Asn1734Lys) c.1578T>A (p.Asn526Lys) | |
| 1 | g.94015850T>A | CA341281800 | ABCA4 | c.5201A>T (p.Asn1734Ile) c.1577A>T (p.Asn526Ile) | |
| 1 | g.94015850T>C | CA341281799 | ABCA4 | c.5201A>G (p.Asn1734Ser) c.1577A>G (p.Asn526Ser) | |
| 1 | g.94015850T>G | CA341281797 | ABCA4 | c.5201A>C (p.Asn1734Thr) c.1577A>C (p.Asn526Thr) | |
| 1 | g.94015851del | CA2586964129 | ABCA4 | c.5201del (p.Asn1734IlefsTer4) c.1577del (p.Asn526IlefsTer4) | |
| 1 | g.94015851T>A | CA341281802 | ABCA4 | c.5200A>T (p.Asn1734Tyr) c.1576A>T (p.Asn526Tyr) | |
| 1 | g.94015851T>C | CA341281804 | ABCA4 | c.5200A>G (p.Asn1734Asp) c.1576A>G (p.Asn526Asp) | |
| 1 | g.94015851T>G | CA341281805 | ABCA4 | c.5200A>C (p.Asn1734His) c.1576A>C (p.Asn526His) | |
| 1 | g.94015852C>A | CA341281807 | ABCA4 | c.5199G>T (p.Met1733Ile) c.1575G>T (p.Met525Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015852C= | CA1181411804 | ABCA4 | c.5199G= (p.Met1733=) c.1575G= (p.Met525=) | |
| 1 | g.94015852C>G | CA341281809 | ABCA4 | c.5199G>C (p.Met1733Ile) c.1575G>C (p.Met525Ile) | |
| 1 | g.94015852C>T | CA341281810 | ABCA4 | c.5199G>A (p.Met1733Ile) c.1575G>A (p.Met525Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015853A= | CA1181411807 | ABCA4 | c.5198T= (p.Met1733=) c.1574T= (p.Met525=) | |
| 1 | g.94015853A>C | CA341281813 | ABCA4 | c.5198T>G (p.Met1733Arg) c.1574T>G (p.Met525Arg) | |
| 1 | g.94015853A>G | CA957346 | ABCA4 | c.5198T>C (p.Met1733Thr) c.1574T>C (p.Met525Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015853A>T | CA341281815 | ABCA4 | c.5198T>A (p.Met1733Lys) c.1574T>A (p.Met525Lys) | |
| 1 | g.94015854T>A | CA341281818 | ABCA4 | c.5197A>T (p.Met1733Leu) c.1573A>T (p.Met525Leu) | |
| 1 | g.94015854T>C | CA341281820 | ABCA4 | c.5197A>G (p.Met1733Val) c.1573A>G (p.Met525Val) | |
| 1 | g.94015854T>G | CA341281821 | ABCA4 | c.5197A>C (p.Met1733Leu) c.1573A>C (p.Met525Leu) | |
| 1 | g.94015855C>A | CA341281826 | ABCA4 | c.5197-1G>T (n.5197-1G>T) c.1573-1G>T (n.1573-1G>T) | |
| 1 | g.94015855C>G | CA341281825 | ABCA4 | c.5197-1G>C (n.5197-1G>C) c.1573-1G>C (n.1573-1G>C) | |
| 1 | g.94015855C>T | CA341281823 | ABCA4 | c.5197-1G>A (n.5197-1G>A) c.1573-1G>A (n.1573-1G>A) | |
| 1 | g.94015856T>A | CA341281829 | ABCA4 | c.5197-2A>T (n.5197-2A>T) c.1573-2A>T (n.1573-2A>T) | |
| 1 | g.94015856T>C | CA341281831 | ABCA4 | c.5197-2A>G (n.5197-2A>G) c.1573-2A>G (n.1573-2A>G) | |
| 1 | g.94015856T>G | CA341281830 | ABCA4 | c.5197-2A>C (n.5197-2A>C) c.1573-2A>C (n.1573-2A>C) | |
| 1 | g.94015857C>A | CA923726350 | ABCA4 | c.5197-3G>T (n.5197-3G>T) c.1573-3G>T (n.1573-3G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94015857C= | CA1142434837 | ABCA4 | c.5197-3G= (n.5197-3G=) c.1573-3G= (n.1573-3G=) | |
| 1 | g.94015857C>G | CA2586964130 | ABCA4 | c.5197-3G>C (n.5197-3G>C) c.1573-3G>C (n.1573-3G>C) | |
| 1 | g.94015857C>T | CA957347 | ABCA4 | c.5197-3G>A (n.5197-3G>A) c.1573-3G>A (n.1573-3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94015858G>A | CA957349 | ABCA4 | c.5197-4C>T (n.5197-4C>T) c.1573-4C>T (n.1573-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94015858G= | CA1181411812 | ABCA4 | c.5197-4C= (n.5197-4C=) c.1573-4C= (n.1573-4C=) | |
| 1 | g.94015858G>T | CA957348 | ABCA4 | c.5197-4C>A (n.5197-4C>A) c.1573-4C>A (n.1573-4C>A) | dbSNP ExAC |
| 1 | g.94015858_94015859del | CA2744615130 | ABCA4 | c.5197-5_5197-4del (n.5197-5_5197-4del) c.1573-5_1573-4del (n.1573-5_1573-4del) | |
| 1 | g.94015861A>C | CA2744615132 | ABCA4 | c.5197-7T>G (n.5197-7T>G) c.1573-7T>G (n.1573-7T>G) | |
| 1 | g.94015861A>G | CA2646646888 | ABCA4 | c.5197-7T>C (n.5197-7T>C) c.1573-7T>C (n.1573-7T>C) | gnomAD v4 |
| 1 | g.94015861_94015863delinsAAG | CA1181411815 | ABCA4 | c.5197-9_5197-7delinsCTT (n.5197-9_5197-7delinsCTT) c.1573-9_1573-7delinsCTT (n.1573-9_1573-7delinsCTT) | |
| 1 | g.94015862A= | CA1181411818 | ABCA4 | c.5197-8T= (n.5197-8T=) c.1573-8T= (n.1573-8T=) | |
| 1 | g.94015862A>G | CA524383478 | ABCA4 | c.5197-8T>C (n.5197-8T>C) c.1573-8T>C (n.1573-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015862_94015863delinsAG | CA1181411819 | ABCA4 | c.5197-9_5197-8delinsCT (n.5197-9_5197-8delinsCT) c.1573-9_1573-8delinsCT (n.1573-9_1573-8delinsCT) | |
| 1 | g.94015865_94015866del | CA1181411821 | ABCA4 | c.5197-9_5197-8del (n.5197-9_5197-8del) c.1573-9_1573-8del (n.1573-9_1573-8del) | dbSNP |