| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94021637T>C | CA2586964145 | ABCA4 | c.4848+3A>G (n.4848+3A>G) n.342+3A>G c.1224+3A>G (n.1224+3A>G) | |
| 1 | g.94021637T>G | CA2646647466 | ABCA4 | c.4848+3A>C (n.4848+3A>C) n.342+3A>C c.1224+3A>C (n.1224+3A>C) | gnomAD v4 |
| 1 | g.94021638A= | CA1181408498 | ABCA4 | c.4848+2T= (n.4848+2T=) n.342+2T= c.1224+2T= (n.1224+2T=) | |
| 1 | g.94021638A>C | CA341283542 | ABCA4 | c.4848+2T>G (n.4848+2T>G) n.342+2T>G c.1224+2T>G (n.1224+2T>G) | |
| 1 | g.94021638A>G | CA341283543 | ABCA4 | c.4848+2T>C (n.4848+2T>C) n.342+2T>C c.1224+2T>C (n.1224+2T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021638A>T | CA341283544 | ABCA4 | c.4848+2T>A (n.4848+2T>A) n.342+2T>A c.1224+2T>A (n.1224+2T>A) | ClinVar dbSNP |
| 1 | g.94021639C>A | CA341283546 | ABCA4 | c.4848+1G>T (n.4848+1G>T) n.342+1G>T c.1224+1G>T (n.1224+1G>T) | ClinVar dbSNP |
| 1 | g.94021639C= | CA1181408507 | ABCA4 | c.4848+1G= (n.4848+1G=) n.342+1G= c.1224+1G= (n.1224+1G=) | |
| 1 | g.94021639C>G | CA341283547 | ABCA4 | c.4848+1G>C (n.4848+1G>C) n.342+1G>C c.1224+1G>C (n.1224+1G>C) | |
| 1 | g.94021639C>T | CA341283548 | ABCA4 | c.4848+1G>A (n.4848+1G>A) n.342+1G>A c.1224+1G>A (n.1224+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021640C>A | CA341283549 | ABCA4 | c.4848G>T (p.Lys1616Asn) n.342G>T c.1224G>T (p.Lys408Asn) | |
| 1 | g.94021640C>G | CA341283550 | ABCA4 | c.4848G>C (p.Lys1616Asn) n.342G>C c.1224G>C (p.Lys408Asn) | |
| 1 | g.94021640C>T | CA418821780 | ABCA4 | c.4848G>A (p.Lys1616=) n.342G>A c.1224G>A (p.Lys408=) | |
| 1 | g.94021641T>A | CA341283553 | ABCA4 | c.4847A>T (p.Lys1616Met) n.341A>T c.1223A>T (p.Lys408Met) | |
| 1 | g.94021641T>C | CA341283551 | ABCA4 | c.4847A>G (p.Lys1616Arg) n.341A>G c.1223A>G (p.Lys408Arg) | |
| 1 | g.94021641T>G | CA341283552 | ABCA4 | c.4847A>C (p.Lys1616Thr) n.341A>C c.1223A>C (p.Lys408Thr) | |
| 1 | g.94021641_94021642insA | CA2586964146 | ABCA4 | c.4846_4847insT (p.Lys1616IlefsTer5) n.340_341insT c.1222_1223insT (p.Lys408IlefsTer5) | |
| 1 | g.94021642T>A | CA341283555 | ABCA4 | c.4846A>T (p.Lys1616Ter) n.340A>T c.1222A>T (p.Lys408Ter) | |
| 1 | g.94021642T>C | CA341283556 | ABCA4 | c.4846A>G (p.Lys1616Glu) n.340A>G c.1222A>G (p.Lys408Glu) | gnomAD v4 |
| 1 | g.94021642T>G | CA341283557 | ABCA4 | c.4846A>C (p.Lys1616Gln) n.340A>C c.1222A>C (p.Lys408Gln) | |
| 1 | g.94021643A>C | CA341283558 | ABCA4 | c.4845T>G (p.Ile1615Met) n.339T>G c.1221T>G (p.Ile407Met) | |
| 1 | g.94021643A>G | CA418821784 | ABCA4 | c.4845T>C (p.Ile1615=) n.339T>C c.1221T>C (p.Ile407=) | |
| 1 | g.94021643A>T | CA418821783 | ABCA4 | c.4845T>A (p.Ile1615=) n.339T>A c.1221T>A (p.Ile407=) | |
| 1 | g.94021644del | CA2586964147 | ABCA4 | c.4845del (p.Lys1616ArgfsTer?) n.339del c.1221del (p.Lys408ArgfsTer?) | |
| 1 | g.94021644A= | CA1181408511 | ABCA4 | c.4844T= (p.Ile1615=) n.338T= c.1220T= (p.Ile407=) | |
| 1 | g.94021644A>C | CA341283559 | ABCA4 | c.4844T>G (p.Ile1615Ser) n.338T>G c.1220T>G (p.Ile407Ser) | |
| 1 | g.94021644A>G | CA341283560 | ABCA4 | c.4844T>C (p.Ile1615Thr) n.338T>C c.1220T>C (p.Ile407Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021644A>T | CA341283561 | ABCA4 | c.4844T>A (p.Ile1615Asn) n.338T>A c.1220T>A (p.Ile407Asn) | |
| 1 | g.94021645T>A | CA341283562 | ABCA4 | c.4843A>T (p.Ile1615Phe) n.337A>T c.1219A>T (p.Ile407Phe) | |
| 1 | g.94021645T>C | CA341283563 | ABCA4 | c.4843A>G (p.Ile1615Val) n.337A>G c.1219A>G (p.Ile407Val) | ClinVar dbSNP |
| 1 | g.94021645T>G | CA341283564 | ABCA4 | c.4843A>C (p.Ile1615Leu) n.337A>C c.1219A>C (p.Ile407Leu) | |
| 1 | g.94021646G>A | CA418821789 | ABCA4 | c.4842C>T (p.Asn1614=) n.336C>T c.1218C>T (p.Asn406=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021646G>C | CA341283565 | ABCA4 | c.4842C>G (p.Asn1614Lys) n.336C>G c.1218C>G (p.Asn406Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021646G= | CA1181408519 | ABCA4 | c.4842C= (p.Asn1614=) n.336C= c.1218C= (p.Asn406=) | |
| 1 | g.94021646G>T | CA341283566 | ABCA4 | c.4842C>A (p.Asn1614Lys) n.336C>A c.1218C>A (p.Asn406Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021647T>A | CA341283569 | ABCA4 | c.4841A>T (p.Asn1614Ile) n.335A>T c.1217A>T (p.Asn406Ile) | |
| 1 | g.94021647T>C | CA341283568 | ABCA4 | c.4841A>G (p.Asn1614Ser) n.335A>G c.1217A>G (p.Asn406Ser) | gnomAD v4 |
| 1 | g.94021647T>G | CA341283567 | ABCA4 | c.4841A>C (p.Asn1614Thr) n.335A>C c.1217A>C (p.Asn406Thr) | gnomAD v4 |
| 1 | g.94021648T>A | CA341283570 | ABCA4 | c.4840A>T (p.Asn1614Tyr) n.334A>T c.1216A>T (p.Asn406Tyr) | |
| 1 | g.94021648T>C | CA341283571 | ABCA4 | c.4840A>G (p.Asn1614Asp) n.334A>G c.1216A>G (p.Asn406Asp) | |
| 1 | g.94021648T>G | CA341283572 | ABCA4 | c.4840A>C (p.Asn1614His) n.334A>C c.1216A>C (p.Asn406His) | |
| 1 | g.94021649G>A | CA418821792 | ABCA4 | c.4839C>T (p.Asp1613=) n.333C>T c.1215C>T (p.Asp405=) | |
| 1 | g.94021649G>C | CA341283573 | ABCA4 | c.4839C>G (p.Asp1613Glu) n.333C>G c.1215C>G (p.Asp405Glu) | |
| 1 | g.94021649G= | CA1181408524 | ABCA4 | c.4839C= (p.Asp1613=) n.333C= c.1215C= (p.Asp405=) | |
| 1 | g.94021649G>T | CA341283574 | ABCA4 | c.4839C>A (p.Asp1613Glu) n.333C>A c.1215C>A (p.Asp405Glu) | dbSNP gnomAD v4 |
| 1 | g.94021649_94021650delinsGT | CA1181408523 | ABCA4 | c.4838_4839delinsAC (p.Asp1613=) n.332_333delinsAC c.1214_1215delinsAC (p.Asp405=) | |
| 1 | g.94021650del | CA227242 | ABCA4 | c.4838del (p.Asp1613AlafsTer?) n.332del c.1214del (p.Asp405AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021650T>A | CA341283577 | ABCA4 | c.4838A>T (p.Asp1613Val) n.332A>T c.1214A>T (p.Asp405Val) | |
| 1 | g.94021650T>C | CA341283576 | ABCA4 | c.4838A>G (p.Asp1613Gly) n.332A>G c.1214A>G (p.Asp405Gly) | |
| 1 | g.94021650T>G | CA341283575 | ABCA4 | c.4838A>C (p.Asp1613Ala) n.332A>C c.1214A>C (p.Asp405Ala) | |
| 1 | g.94021650T= | CA1140725978 | ABCA4 | c.4838A= (p.Asp1613=) n.332A= c.1214A= (p.Asp405=) | |
| 1 | g.94021651C>A | CA341283578 | ABCA4 | c.4837G>T (p.Asp1613Tyr) n.331G>T c.1213G>T (p.Asp405Tyr) | |
| 1 | g.94021651C= | CA1181408541 | ABCA4 | c.4837G= (p.Asp1613=) n.331G= c.1213G= (p.Asp405=) | |
| 1 | g.94021651C>G | CA341283579 | ABCA4 | c.4837G>C (p.Asp1613His) n.331G>C c.1213G>C (p.Asp405His) | |
| 1 | g.94021651C>T | CA341283580 | ABCA4 | c.4837G>A (p.Asp1613Asn) n.331G>A c.1213G>A (p.Asp405Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021652T>A | CA341283581 | ABCA4 | c.4836A>T (p.Glu1612Asp) n.330A>T c.1212A>T (p.Glu404Asp) | |
| 1 | g.94021652T>C | CA418821798 | ABCA4 | c.4836A>G (p.Glu1612=) n.330A>G c.1212A>G (p.Glu404=) | |
| 1 | g.94021652T>G | CA341283582 | ABCA4 | c.4836A>C (p.Glu1612Asp) n.330A>C c.1212A>C (p.Glu404Asp) | |
| 1 | g.94021653T>A | CA341283583 | ABCA4 | c.4835A>T (p.Glu1612Val) n.329A>T c.1211A>T (p.Glu404Val) | |
| 1 | g.94021653T>C | CA341283585 | ABCA4 | c.4835A>G (p.Glu1612Gly) n.329A>G c.1211A>G (p.Glu404Gly) | |
| 1 | g.94021653T>G | CA341283584 | ABCA4 | c.4835A>C (p.Glu1612Ala) n.329A>C c.1211A>C (p.Glu404Ala) | |
| 1 | g.94021654C>A | CA341283586 | ABCA4 | c.4834G>T (p.Glu1612Ter) n.328G>T c.1210G>T (p.Glu404Ter) | |
| 1 | g.94021654C= | CA1181408544 | ABCA4 | c.4834G= (p.Glu1612=) n.328G= c.1210G= (p.Glu404=) | |
| 1 | g.94021654C>G | CA341283587 | ABCA4 | c.4834G>C (p.Glu1612Gln) n.328G>C c.1210G>C (p.Glu404Gln) | |
| 1 | g.94021654C>T | CA26844995 | ABCA4 | c.4834G>A (p.Glu1612Lys) n.328G>A c.1210G>A (p.Glu404Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021655A>C | CA418821800 | ABCA4 | c.4833T>G (p.Thr1611=) n.327T>G c.1209T>G (p.Thr403=) | |
| 1 | g.94021655A>G | CA418821801 | ABCA4 | c.4833T>C (p.Thr1611=) n.327T>C c.1209T>C (p.Thr403=) | |
| 1 | g.94021655A>T | CA418821802 | ABCA4 | c.4833T>A (p.Thr1611=) n.327T>A c.1209T>A (p.Thr403=) | |
| 1 | g.94021656del | CA2586964148 | ABCA4 | c.4832del (p.Thr1611MetfsTer?) n.326del c.1208del (p.Thr403MetfsTer?) | |
| 1 | g.94021656G>A | CA341283588 | ABCA4 | c.4832C>T (p.Thr1611Ile) n.326C>T c.1208C>T (p.Thr403Ile) | |
| 1 | g.94021656G>C | CA341283589 | ABCA4 | c.4832C>G (p.Thr1611Ser) n.326C>G c.1208C>G (p.Thr403Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021656G= | CA1181408548 | ABCA4 | c.4832C= (p.Thr1611=) n.326C= c.1208C= (p.Thr403=) | |
| 1 | g.94021656G>T | CA341283590 | ABCA4 | c.4832C>A (p.Thr1611Asn) n.326C>A c.1208C>A (p.Thr403Asn) | |
| 1 | g.94021657T>A | CA341283591 | ABCA4 | c.4831A>T (p.Thr1611Ser) n.325A>T c.1207A>T (p.Thr403Ser) | |
| 1 | g.94021657T>C | CA341283592 | ABCA4 | c.4831A>G (p.Thr1611Ala) n.325A>G c.1207A>G (p.Thr403Ala) | |
| 1 | g.94021657T>G | CA341283593 | ABCA4 | c.4831A>C (p.Thr1611Pro) n.325A>C c.1207A>C (p.Thr403Pro) | |
| 1 | g.94021659del | CA2586964149 | ABCA4 | c.4831del (p.Thr1611LeufsTer?) n.325del c.1207del (p.Thr403LeufsTer?) | |
| 1 | g.94021658T>A | CA341283594 | ABCA4 | c.4830A>T (p.Glu1610Asp) n.324A>T c.1206A>T (p.Glu402Asp) | |
| 1 | g.94021658T>C | CA418821803 | ABCA4 | c.4830A>G (p.Glu1610=) n.324A>G c.1206A>G (p.Glu402=) | |
| 1 | g.94021658T>G | CA341283595 | ABCA4 | c.4830A>C (p.Glu1610Asp) n.324A>C c.1206A>C (p.Glu402Asp) | |
| 1 | g.94021659T>A | CA341283596 | ABCA4 | c.4829A>T (p.Glu1610Val) n.323A>T c.1205A>T (p.Glu402Val) | |
| 1 | g.94021659T>C | CA341283598 | ABCA4 | c.4829A>G (p.Glu1610Gly) n.323A>G c.1205A>G (p.Glu402Gly) | |
| 1 | g.94021659T>G | CA341283597 | ABCA4 | c.4829A>C (p.Glu1610Ala) n.323A>C c.1205A>C (p.Glu402Ala) | |
| 1 | g.94021660C>A | CA341283599 | ABCA4 | c.4828G>T (p.Glu1610Ter) n.322G>T c.1204G>T (p.Glu402Ter) | |
| 1 | g.94021660C= | CA1181408550 | ABCA4 | c.4828G= (p.Glu1610=) n.322G= c.1204G= (p.Glu402=) | |
| 1 | g.94021660C>G | CA341283600 | ABCA4 | c.4828G>C (p.Glu1610Gln) n.322G>C c.1204G>C (p.Glu402Gln) | |
| 1 | g.94021660C>T | CA26845008 | ABCA4 | c.4828G>A (p.Glu1610Lys) n.322G>A c.1204G>A (p.Glu402Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021661T>A | CA418821805 | ABCA4 | c.4827A>T (p.Leu1609=) n.321A>T c.1203A>T (p.Leu401=) | |
| 1 | g.94021661T>C | CA418821806 | ABCA4 | c.4827A>G (p.Leu1609=) n.321A>G c.1203A>G (p.Leu401=) | |
| 1 | g.94021661T>G | CA418821807 | ABCA4 | c.4827A>C (p.Leu1609=) n.321A>C c.1203A>C (p.Leu401=) | |
| 1 | g.94021662A>C | CA341283601 | ABCA4 | c.4826T>G (p.Leu1609Arg) n.320T>G c.1202T>G (p.Leu401Arg) | |
| 1 | g.94021662A>G | CA341283602 | ABCA4 | c.4826T>C (p.Leu1609Pro) n.320T>C c.1202T>C (p.Leu401Pro) | gnomAD v4 |
| 1 | g.94021662A>T | CA341283603 | ABCA4 | c.4826T>A (p.Leu1609Gln) n.320T>A c.1202T>A (p.Leu401Gln) | |
| 1 | g.94021663G>A | CA418821809 | ABCA4 | c.4825C>T (p.Leu1609=) n.319C>T c.1201C>T (p.Leu401=) | |
| 1 | g.94021663G>C | CA341283604 | ABCA4 | c.4825C>G (p.Leu1609Val) n.319C>G c.1201C>G (p.Leu401Val) | |
| 1 | g.94021663G>T | CA341283605 | ABCA4 | c.4825C>A (p.Leu1609Ile) n.319C>A c.1201C>A (p.Leu401Ile) | COSMIC |
| 1 | g.94021664A>C | CA341283606 | ABCA4 | c.4824T>G (p.His1608Gln) n.318T>G c.1200T>G (p.His400Gln) | |
| 1 | g.94021664A>G | CA418821812 | ABCA4 | c.4824T>C (p.His1608=) n.318T>C c.1200T>C (p.His400=) | |
| 1 | g.94021664A>T | CA341283607 | ABCA4 | c.4824T>A (p.His1608Gln) n.318T>A c.1200T>A (p.His400Gln) | |
| 1 | g.94021665T>A | CA341283609 | ABCA4 | c.4823A>T (p.His1608Leu) n.317A>T c.1199A>T (p.His400Leu) | |
| 1 | g.94021665T>C | CA26845013 | ABCA4 | c.4823A>G (p.His1608Arg) n.317A>G c.1199A>G (p.His400Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021665T>G | CA341283608 | ABCA4 | c.4823A>C (p.His1608Pro) n.317A>C c.1199A>C (p.His400Pro) | |
| 1 | g.94021665T= | CA1142408947 | ABCA4 | c.4823A= (p.His1608=) n.317A= c.1199A= (p.His400=) | |
| 1 | g.94021666G>A | CA341283610 | ABCA4 | c.4822C>T (p.His1608Tyr) n.316C>T c.1198C>T (p.His400Tyr) | gnomAD v4 |
| 1 | g.94021666G>C | CA341283611 | ABCA4 | c.4822C>G (p.His1608Asp) n.316C>G c.1198C>G (p.His400Asp) | |
| 1 | g.94021666G>T | CA341283612 | ABCA4 | c.4822C>A (p.His1608Asn) n.316C>A c.1198C>A (p.His400Asn) | |
| 1 | g.94021667T>A | CA341283613 | ABCA4 | c.4821A>T (p.Lys1607Asn) n.315A>T c.1197A>T (p.Lys399Asn) | |
| 1 | g.94021667T>C | CA418821813 | ABCA4 | c.4821A>G (p.Lys1607=) n.315A>G c.1197A>G (p.Lys399=) | |
| 1 | g.94021667T>G | CA341283614 | ABCA4 | c.4821A>C (p.Lys1607Asn) n.315A>C c.1197A>C (p.Lys399Asn) | |
| 1 | g.94021668T>A | CA341283615 | ABCA4 | c.4820A>T (p.Lys1607Ile) n.314A>T c.1196A>T (p.Lys399Ile) | |
| 1 | g.94021668T>C | CA341283617 | ABCA4 | c.4820A>G (p.Lys1607Arg) n.314A>G c.1196A>G (p.Lys399Arg) | |
| 1 | g.94021668T>G | CA341283616 | ABCA4 | c.4820A>C (p.Lys1607Thr) n.314A>C c.1196A>C (p.Lys399Thr) | |
| 1 | g.94021669T>A | CA341283618 | ABCA4 | c.4819A>T (p.Lys1607Ter) n.313A>T c.1195A>T (p.Lys399Ter) | |
| 1 | g.94021669T>C | CA341283619 | ABCA4 | c.4819A>G (p.Lys1607Glu) n.313A>G c.1195A>G (p.Lys399Glu) | |
| 1 | g.94021669T>G | CA341283620 | ABCA4 | c.4819A>C (p.Lys1607Gln) n.313A>C c.1195A>C (p.Lys399Gln) | |
| 1 | g.94021670A>C | CA418821815 | ABCA4 | c.4818T>G (p.Leu1606=) n.312T>G c.1194T>G (p.Leu398=) | |
| 1 | g.94021670A>G | CA418821816 | ABCA4 | c.4818T>C (p.Leu1606=) n.312T>C c.1194T>C (p.Leu398=) | |
| 1 | g.94021670A>T | CA418821817 | ABCA4 | c.4818T>A (p.Leu1606=) n.312T>A c.1194T>A (p.Leu398=) | |
| 1 | g.94021671A= | CA1181408558 | ABCA4 | c.4817T= (p.Leu1606=) n.311T= c.1193T= (p.Leu398=) | |
| 1 | g.94021671A>C | CA341283621 | ABCA4 | c.4817T>G (p.Leu1606Arg) n.311T>G c.1193T>G (p.Leu398Arg) | |
| 1 | g.94021671A>G | CA341283622 | ABCA4 | c.4817T>C (p.Leu1606Pro) n.311T>C c.1193T>C (p.Leu398Pro) | ClinVar dbSNP |
| 1 | g.94021671A>T | CA341283623 | ABCA4 | c.4817T>A (p.Leu1606His) n.311T>A c.1193T>A (p.Leu398His) | |
| 1 | g.94021672G>A | CA957456 | ABCA4 | c.4816C>T (p.Leu1606Phe) n.310C>T c.1192C>T (p.Leu398Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021672G>C | CA341283624 | ABCA4 | c.4816C>G (p.Leu1606Val) n.310C>G c.1192C>G (p.Leu398Val) | |
| 1 | g.94021672G= | CA1181408561 | ABCA4 | c.4816C= (p.Leu1606=) n.310C= c.1192C= (p.Leu398=) | |
| 1 | g.94021672G>T | CA341283625 | ABCA4 | c.4816C>A (p.Leu1606Ile) n.310C>A c.1192C>A (p.Leu398Ile) | |
| 1 | g.94021673G>A | CA418821818 | ABCA4 | c.4815C>T (p.Phe1605=) n.309C>T c.1191C>T (p.Phe397=) | COSMIC |
| 1 | g.94021673G>C | CA341283626 | ABCA4 | c.4815C>G (p.Phe1605Leu) n.309C>G c.1191C>G (p.Phe397Leu) | |
| 1 | g.94021673G= | CA1181408566 | ABCA4 | c.4815C= (p.Phe1605=) n.309C= c.1191C= (p.Phe397=) | |
| 1 | g.94021673G>T | CA341283627 | ABCA4 | c.4815C>A (p.Phe1605Leu) n.309C>A c.1191C>A (p.Phe397Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021674A= | CA1181408568 | ABCA4 | c.4814T= (p.Phe1605=) n.308T= c.1190T= (p.Phe397=) | |
| 1 | g.94021674A>C | CA341283628 | ABCA4 | c.4814T>G (p.Phe1605Cys) n.308T>G c.1190T>G (p.Phe397Cys) | |
| 1 | g.94021674A>G | CA341283629 | ABCA4 | c.4814T>C (p.Phe1605Ser) n.308T>C c.1190T>C (p.Phe397Ser) | |
| 1 | g.94021674A>T | CA957457 | ABCA4 | c.4814T>A (p.Phe1605Tyr) n.308T>A c.1190T>A (p.Phe397Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021675A= | CA1181408575 | ABCA4 | c.4813T= (p.Phe1605=) n.307T= c.1189T= (p.Phe397=) | |
| 1 | g.94021675A>C | CA341283630 | ABCA4 | c.4813T>G (p.Phe1605Val) n.307T>G c.1189T>G (p.Phe397Val) | |
| 1 | g.94021675A>G | CA341283631 | ABCA4 | c.4813T>C (p.Phe1605Leu) n.307T>C c.1189T>C (p.Phe397Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021675A>T | CA341283632 | ABCA4 | c.4813T>A (p.Phe1605Ile) n.307T>A c.1189T>A (p.Phe397Ile) | dbSNP |
| 1 | g.94021676A>C | CA341283633 | ABCA4 | c.4812T>G (p.Asp1604Glu) n.306T>G c.1188T>G (p.Asp396Glu) | |
| 1 | g.94021676A>G | CA418821822 | ABCA4 | c.4812T>C (p.Asp1604=) n.306T>C c.1188T>C (p.Asp396=) | |
| 1 | g.94021676A>T | CA341283634 | ABCA4 | c.4812T>A (p.Asp1604Glu) n.306T>A c.1188T>A (p.Asp396Glu) | |
| 1 | g.94021677T>A | CA341283635 | ABCA4 | c.4811A>T (p.Asp1604Val) n.305A>T c.1187A>T (p.Asp396Val) | |
| 1 | g.94021677T>C | CA341283636 | ABCA4 | c.4811A>G (p.Asp1604Gly) n.305A>G c.1187A>G (p.Asp396Gly) | |
| 1 | g.94021677T>G | CA341283637 | ABCA4 | c.4811A>C (p.Asp1604Ala) n.305A>C c.1187A>C (p.Asp396Ala) | |
| 1 | g.94021678C>A | CA341283638 | ABCA4 | c.4810G>T (p.Asp1604Tyr) n.304G>T c.1186G>T (p.Asp396Tyr) | |
| 1 | g.94021678C>G | CA341283639 | ABCA4 | c.4810G>C (p.Asp1604His) n.304G>C c.1186G>C (p.Asp396His) | |
| 1 | g.94021678C>T | CA341283640 | ABCA4 | c.4810G>A (p.Asp1604Asn) n.304G>A c.1186G>A (p.Asp396Asn) | |
| 1 | g.94021679del | CA2586964150 | ABCA4 | c.4809del (p.Asp1604IlefsTer6) n.303del c.1185del (p.Asp396IlefsTer6) | |
| 1 | g.94021679A= | CA1181408578 | ABCA4 | c.4809T= (p.Pro1603=) n.303T= c.1185T= (p.Pro395=) | |
| 1 | g.94021679A>C | CA418821823 | ABCA4 | c.4809T>G (p.Pro1603=) n.303T>G c.1185T>G (p.Pro395=) | |
| 1 | g.94021679A>G | CA418821825 | ABCA4 | c.4809T>C (p.Pro1603=) n.303T>C c.1185T>C (p.Pro395=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021679A>T | CA418821826 | ABCA4 | c.4809T>A (p.Pro1603=) n.303T>A c.1185T>A (p.Pro395=) | gnomAD v4 |
| 1 | g.94021680G>A | CA957459 | ABCA4 | c.4808C>T (p.Pro1603Leu) n.302C>T c.1184C>T (p.Pro395Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021680G>C | CA957458 | ABCA4 | c.4808C>G (p.Pro1603Arg) n.302C>G c.1184C>G (p.Pro395Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021680G= | CA1181408582 | ABCA4 | c.4808C= (p.Pro1603=) n.302C= c.1184C= (p.Pro395=) | |
| 1 | g.94021680G>T | CA341283641 | ABCA4 | c.4808C>A (p.Pro1603His) n.302C>A c.1184C>A (p.Pro395His) | |
| 1 | g.94021681G>A | CA26845035 | ABCA4 | c.4807C>T (p.Pro1603Ser) n.301C>T c.1183C>T (p.Pro395Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021681G>C | CA341283642 | ABCA4 | c.4807C>G (p.Pro1603Ala) n.301C>G c.1183C>G (p.Pro395Ala) | |
| 1 | g.94021681G= | CA1181408585 | ABCA4 | c.4807C= (p.Pro1603=) n.301C= c.1183C= (p.Pro395=) | |
| 1 | g.94021681G>T | CA341283643 | ABCA4 | c.4807C>A (p.Pro1603Thr) n.301C>A c.1183C>A (p.Pro395Thr) | |
| 1 | g.94021682T>A | CA418821828 | ABCA4 | c.4806A>T (p.Ile1602=) n.300A>T c.1182A>T (p.Ile394=) | dbSNP |
| 1 | g.94021682T>C | CA341283644 | ABCA4 | c.4806A>G (p.Ile1602Met) n.300A>G c.1182A>G (p.Ile394Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021682T>G | CA418821827 | ABCA4 | c.4806A>C (p.Ile1602=) n.300A>C c.1182A>C (p.Ile394=) | |
| 1 | g.94021682T= | CA1181408587 | ABCA4 | c.4806A= (p.Ile1602=) n.300A= c.1182A= (p.Ile394=) | |
| 1 | g.94021682dup | CA2574438645 | ABCA4 | c.4806dup (p.Pro1603ThrfsTer2) n.300dup c.1182dup (p.Pro395ThrfsTer2) | |
| 1 | g.94021683A>C | CA341283645 | ABCA4 | c.4805T>G (p.Ile1602Arg) n.299T>G c.1181T>G (p.Ile394Arg) | |
| 1 | g.94021683A>G | CA341283646 | ABCA4 | c.4805T>C (p.Ile1602Thr) n.299T>C c.1181T>C (p.Ile394Thr) | |
| 1 | g.94021683A>T | CA341283647 | ABCA4 | c.4805T>A (p.Ile1602Lys) n.299T>A c.1181T>A (p.Ile394Lys) | |
| 1 | g.94021684T>A | CA341283648 | ABCA4 | c.4804A>T (p.Ile1602Leu) n.298A>T c.1180A>T (p.Ile394Leu) | |
| 1 | g.94021684T>C | CA341283649 | ABCA4 | c.4804A>G (p.Ile1602Val) n.298A>G c.1180A>G (p.Ile394Val) | dbSNP |
| 1 | g.94021684T>G | CA341283650 | ABCA4 | c.4804A>C (p.Ile1602Leu) n.298A>C c.1180A>C (p.Ile394Leu) | |
| 1 | g.94021684T= | CA1181408590 | ABCA4 | c.4804A= (p.Ile1602=) n.298A= c.1180A= (p.Ile394=) | |
| 1 | g.94021686del | CA2586964151 | ABCA4 | c.4804del (p.Ile1602TyrfsTer8) n.298del c.1180del (p.Ile394TyrfsTer8) | |
| 1 | g.94021685T>A | CA341283651 | ABCA4 | c.4803A>T (p.Glu1601Asp) n.297A>T c.1179A>T (p.Glu393Asp) | |
| 1 | g.94021685T>C | CA418821832 | ABCA4 | c.4803A>G (p.Glu1601=) n.297A>G c.1179A>G (p.Glu393=) | |
| 1 | g.94021685T>G | CA341283652 | ABCA4 | c.4803A>C (p.Glu1601Asp) n.297A>C c.1179A>C (p.Glu393Asp) | |
| 1 | g.94021686T>A | CA341283655 | ABCA4 | c.4802A>T (p.Glu1601Val) n.296A>T c.1178A>T (p.Glu393Val) | |
| 1 | g.94021686T>C | CA341283654 | ABCA4 | c.4802A>G (p.Glu1601Gly) n.296A>G c.1178A>G (p.Glu393Gly) | |
| 1 | g.94021686T>G | CA341283653 | ABCA4 | c.4802A>C (p.Glu1601Ala) n.296A>C c.1178A>C (p.Glu393Ala) | gnomAD v4 |
| 1 | g.94021687C>A | CA341283656 | ABCA4 | c.4801G>T (p.Glu1601Ter) n.295G>T c.1177G>T (p.Glu393Ter) | COSMIC |
| 1 | g.94021687C>G | CA341283657 | ABCA4 | c.4801G>C (p.Glu1601Gln) n.295G>C c.1177G>C (p.Glu393Gln) | |
| 1 | g.94021687C>T | CA341283658 | ABCA4 | c.4801G>A (p.Glu1601Lys) n.295G>A c.1177G>A (p.Glu393Lys) | |
| 1 | g.94021688T>A | CA341283659 | ABCA4 | c.4800A>T (p.Lys1600Asn) n.294A>T c.1176A>T (p.Lys392Asn) | |
| 1 | g.94021688T>C | CA418821833 | ABCA4 | c.4800A>G (p.Lys1600=) n.294A>G c.1176A>G (p.Lys392=) | gnomAD v4 |
| 1 | g.94021688T>G | CA341283660 | ABCA4 | c.4800A>C (p.Lys1600Asn) n.294A>C c.1176A>C (p.Lys392Asn) | |
| 1 | g.94021689T>A | CA341283663 | ABCA4 | c.4799A>T (p.Lys1600Ile) n.293A>T c.1175A>T (p.Lys392Ile) | |
| 1 | g.94021689T>C | CA341283662 | ABCA4 | c.4799A>G (p.Lys1600Arg) n.293A>G c.1175A>G (p.Lys392Arg) | |
| 1 | g.94021689T>G | CA341283661 | ABCA4 | c.4799A>C (p.Lys1600Thr) n.293A>C c.1175A>C (p.Lys392Thr) | |
| 1 | g.94021690T>A | CA341283664 | ABCA4 | c.4798A>T (p.Lys1600Ter) n.292A>T c.1174A>T (p.Lys392Ter) | |
| 1 | g.94021690T>C | CA957460 | ABCA4 | c.4798A>G (p.Lys1600Glu) n.292A>G c.1174A>G (p.Lys392Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021690T>G | CA341283665 | ABCA4 | c.4798A>C (p.Lys1600Gln) n.292A>C c.1174A>C (p.Lys392Gln) | |
| 1 | g.94021690T= | CA1181408593 | ABCA4 | c.4798A= (p.Lys1600=) n.292A= c.1174A= (p.Lys392=) | |
| 1 | g.94021691A>C | CA418821835 | ABCA4 | c.4797T>G (p.Ser1599=) n.291T>G c.1173T>G (p.Ser391=) | |
| 1 | g.94021691A>G | CA418821836 | ABCA4 | c.4797T>C (p.Ser1599=) n.291T>C c.1173T>C (p.Ser391=) | |
| 1 | g.94021691A>T | CA418821837 | ABCA4 | c.4797T>A (p.Ser1599=) n.291T>A c.1173T>A (p.Ser391=) | |
| 1 | g.94021692G>A | CA341283666 | ABCA4 | c.4796C>T (p.Ser1599Phe) n.290C>T c.1172C>T (p.Ser391Phe) | gnomAD v4 |
| 1 | g.94021692G>C | CA341283667 | ABCA4 | c.4796C>G (p.Ser1599Cys) n.290C>G c.1172C>G (p.Ser391Cys) | |
| 1 | g.94021692G>T | CA341283668 | ABCA4 | c.4796C>A (p.Ser1599Tyr) n.290C>A c.1172C>A (p.Ser391Tyr) | |
| 1 | g.94021693A= | CA1181408597 | ABCA4 | c.4795T= (p.Ser1599=) n.289T= c.1171T= (p.Ser391=) | |
| 1 | g.94021693A>C | CA341283671 | ABCA4 | c.4795T>G (p.Ser1599Ala) n.289T>G c.1171T>G (p.Ser391Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021693A>G | CA341283669 | ABCA4 | c.4795T>C (p.Ser1599Pro) n.289T>C c.1171T>C (p.Ser391Pro) | |
| 1 | g.94021693A>T | CA341283670 | ABCA4 | c.4795T>A (p.Ser1599Thr) n.289T>A c.1171T>A (p.Ser391Thr) | |
| 1 | g.94021694G>A | CA957461 | ABCA4 | c.4794C>T (p.Ala1598=) n.288C>T c.1170C>T (p.Ala390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021694G>C | CA418821839 | ABCA4 | c.4794C>G (p.Ala1598=) n.288C>G c.1170C>G (p.Ala390=) | dbSNP gnomAD v4 |
| 1 | g.94021694G= | CA1181408603 | ABCA4 | c.4794C= (p.Ala1598=) n.288C= c.1170C= (p.Ala390=) | |
| 1 | g.94021694G>T | CA418821840 | ABCA4 | c.4794C>A (p.Ala1598=) n.288C>A c.1170C>A (p.Ala390=) | ClinVar dbSNP |
| 1 | g.94021695G>A | CA341283672 | ABCA4 | c.4793C>T (p.Ala1598Val) n.287C>T c.1169C>T (p.Ala390Val) | |
| 1 | g.94021695G>C | CA341283673 | ABCA4 | c.4793C>G (p.Ala1598Gly) n.287C>G c.1169C>G (p.Ala390Gly) | ClinVar dbSNP |
| 1 | g.94021695G= | CA1140725983 | ABCA4 | c.4793C= (p.Ala1598=) n.287C= c.1169C= (p.Ala390=) | |
| 1 | g.94021695G>T | CA227239 | ABCA4 | c.4793C>A (p.Ala1598Asp) n.287C>A c.1169C>A (p.Ala390Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021696C>A | CA341283674 | ABCA4 | c.4792G>T (p.Ala1598Ser) n.286G>T c.1168G>T (p.Ala390Ser) | |
| 1 | g.94021696C= | CA1181408610 | ABCA4 | c.4792G= (p.Ala1598=) n.286G= c.1168G= (p.Ala390=) | |
| 1 | g.94021696C>G | CA341283675 | ABCA4 | c.4792G>C (p.Ala1598Pro) n.286G>C c.1168G>C (p.Ala390Pro) | |
| 1 | g.94021696C>T | CA341283676 | ABCA4 | c.4792G>A (p.Ala1598Thr) n.286G>A c.1168G>A (p.Ala390Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021697C>A | CA341283677 | ABCA4 | c.4791G>T (p.Glu1597Asp) n.285G>T c.1167G>T (p.Glu389Asp) | |
| 1 | g.94021697C= | CA1143751529 | ABCA4 | c.4791G= (p.Glu1597=) n.285G= c.1167G= (p.Glu389=) | |
| 1 | g.94021697C>G | CA341283678 | ABCA4 | c.4791G>C (p.Glu1597Asp) n.285G>C c.1167G>C (p.Glu389Asp) | gnomAD v4 |
| 1 | g.94021697C>T | CA957462 | ABCA4 | c.4791G>A (p.Glu1597=) n.285G>A c.1167G>A (p.Glu389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021698T>A | CA341283679 | ABCA4 | c.4790A>T (p.Glu1597Val) n.284A>T c.1166A>T (p.Glu389Val) | |
| 1 | g.94021698T>C | CA341283680 | ABCA4 | c.4790A>G (p.Glu1597Gly) n.284A>G c.1166A>G (p.Glu389Gly) | |
| 1 | g.94021698T>G | CA341283681 | ABCA4 | c.4790A>C (p.Glu1597Ala) n.284A>C c.1166A>C (p.Glu389Ala) | |
| 1 | g.94021699C>A | CA341283682 | ABCA4 | c.4789G>T (p.Glu1597Ter) n.283G>T c.1165G>T (p.Glu389Ter) | |
| 1 | g.94021699C= | CA1181408614 | ABCA4 | c.4789G= (p.Glu1597=) n.283G= c.1165G= (p.Glu389=) | |
| 1 | g.94021699C>G | CA341283684 | ABCA4 | c.4789G>C (p.Glu1597Gln) n.283G>C c.1165G>C (p.Glu389Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021699C>T | CA341283683 | ABCA4 | c.4789G>A (p.Glu1597Lys) n.283G>A c.1165G>A (p.Glu389Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021700T>A | CA341283685 | ABCA4 | c.4788A>T (p.Arg1596Ser) n.282A>T c.1164A>T (p.Arg388Ser) | |
| 1 | g.94021700T>C | CA418821844 | ABCA4 | c.4788A>G (p.Arg1596=) n.282A>G c.1164A>G (p.Arg388=) | |
| 1 | g.94021700T>G | CA341283686 | ABCA4 | c.4788A>C (p.Arg1596Ser) n.282A>C c.1164A>C (p.Arg388Ser) | |
| 1 | g.94021701C>A | CA341283687 | ABCA4 | c.4787G>T (p.Arg1596Ile) n.281G>T c.1163G>T (p.Arg388Ile) | |
| 1 | g.94021701C= | CA1181408617 | ABCA4 | c.4787G= (p.Arg1596=) n.281G= c.1163G= (p.Arg388=) | |
| 1 | g.94021701C>G | CA341283688 | ABCA4 | c.4787G>C (p.Arg1596Thr) n.281G>C c.1163G>C (p.Arg388Thr) | dbSNP gnomAD v4 |
| 1 | g.94021701C>T | CA341283689 | ABCA4 | c.4787G>A (p.Arg1596Lys) n.281G>A c.1163G>A (p.Arg388Lys) | |
| 1 | g.94021702T>A | CA341283690 | ABCA4 | c.4786A>T (p.Arg1596Ter) n.280A>T c.1162A>T (p.Arg388Ter) | |
| 1 | g.94021702T>C | CA341283691 | ABCA4 | c.4786A>G (p.Arg1596Gly) n.280A>G c.1162A>G (p.Arg388Gly) | |
| 1 | g.94021702T>G | CA418821845 | ABCA4 | c.4786A>C (p.Arg1596=) n.280A>C c.1162A>C (p.Arg388=) | |
| 1 | g.94021702dup | CA1139656192 | ABCA4 | c.4786dup (p.Arg1596LysfsTer5) n.280dup c.1162dup (p.Arg388LysfsTer5) | ClinVar dbSNP |
| 1 | g.94021703A= | CA1181408626 | ABCA4 | c.4785T= (p.Thr1595=) n.279T= c.1161T= (p.Thr387=) | |
| 1 | g.94021703A>C | CA418821846 | ABCA4 | c.4785T>G (p.Thr1595=) n.279T>G c.1161T>G (p.Thr387=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021703A>G | CA418821847 | ABCA4 | c.4785T>C (p.Thr1595=) n.279T>C c.1161T>C (p.Thr387=) | |
| 1 | g.94021703A>T | CA418821848 | ABCA4 | c.4785T>A (p.Thr1595=) n.279T>A c.1161T>A (p.Thr387=) | |
| 1 | g.94021704G>A | CA341283692 | ABCA4 | c.4784C>T (p.Thr1595Ile) n.278C>T c.1160C>T (p.Thr387Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021704G>C | CA341283693 | ABCA4 | c.4784C>G (p.Thr1595Ser) n.278C>G c.1160C>G (p.Thr387Ser) | gnomAD v4 |
| 1 | g.94021704G= | CA1181408629 | ABCA4 | c.4784C= (p.Thr1595=) n.278C= c.1160C= (p.Thr387=) | |
| 1 | g.94021704G>T | CA26845044 | ABCA4 | c.4784C>A (p.Thr1595Asn) n.278C>A c.1160C>A (p.Thr387Asn) | dbSNP gnomAD v4 |
| 1 | g.94021705T>A | CA341283694 | ABCA4 | c.4783A>T (p.Thr1595Ser) n.277A>T c.1159A>T (p.Thr387Ser) | |
| 1 | g.94021705T>C | CA341283695 | ABCA4 | c.4783A>G (p.Thr1595Ala) n.277A>G c.1159A>G (p.Thr387Ala) | ClinVar dbSNP |
| 1 | g.94021705T>G | CA341283697 | ABCA4 | c.4783A>C (p.Thr1595Pro) n.277A>C c.1159A>C (p.Thr387Pro) | |
| 1 | g.94021705T= | CA1181408637 | ABCA4 | c.4783A= (p.Thr1595=) n.277A= c.1159A= (p.Thr387=) | |
| 1 | g.94021706G>A | CA418821852 | ABCA4 | c.4782C>T (p.Ile1594=) n.276C>T c.1158C>T (p.Ile386=) | |
| 1 | g.94021706G>C | CA341283698 | ABCA4 | c.4782C>G (p.Ile1594Met) n.276C>G c.1158C>G (p.Ile386Met) | |
| 1 | g.94021706G>T | CA418821853 | ABCA4 | c.4782C>A (p.Ile1594=) n.276C>A c.1158C>A (p.Ile386=) | |
| 1 | g.94021707A>C | CA341283700 | ABCA4 | c.4781T>G (p.Ile1594Ser) n.275T>G c.1157T>G (p.Ile386Ser) | |
| 1 | g.94021707A>G | CA341283702 | ABCA4 | c.4781T>C (p.Ile1594Thr) n.275T>C c.1157T>C (p.Ile386Thr) | |
| 1 | g.94021707A>T | CA341283703 | ABCA4 | c.4781T>A (p.Ile1594Asn) n.275T>A c.1157T>A (p.Ile386Asn) | |
| 1 | g.94021708T>A | CA341283705 | ABCA4 | c.4780A>T (p.Ile1594Phe) n.274A>T c.1156A>T (p.Ile386Phe) | |
| 1 | g.94021708T>C | CA341283707 | ABCA4 | c.4780A>G (p.Ile1594Val) n.274A>G c.1156A>G (p.Ile386Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021708T>G | CA341283709 | ABCA4 | c.4780A>C (p.Ile1594Leu) n.274A>C c.1156A>C (p.Ile386Leu) | |
| 1 | g.94021708T= | CA1181408639 | ABCA4 | c.4780A= (p.Ile1594=) n.274A= c.1156A= (p.Ile386=) | |
| 1 | g.94021709A>C | CA418821854 | ABCA4 | c.4779T>G (p.Pro1593=) n.273T>G c.1155T>G (p.Pro385=) | gnomAD v4 |
| 1 | g.94021709A>G | CA418821855 | ABCA4 | c.4779T>C (p.Pro1593=) n.273T>C c.1155T>C (p.Pro385=) | |
| 1 | g.94021709A>T | CA418821856 | ABCA4 | c.4779T>A (p.Pro1593=) n.273T>A c.1155T>A (p.Pro385=) | |
| 1 | g.94021710G>A | CA341283711 | ABCA4 | c.4778C>T (p.Pro1593Leu) n.272C>T c.1154C>T (p.Pro385Leu) | gnomAD v4 |
| 1 | g.94021710G>C | CA341283713 | ABCA4 | c.4778C>G (p.Pro1593Arg) n.272C>G c.1154C>G (p.Pro385Arg) | |
| 1 | g.94021710G>T | CA341283714 | ABCA4 | c.4778C>A (p.Pro1593His) n.272C>A c.1154C>A (p.Pro385His) | |
| 1 | g.94021711G>A | CA341283716 | ABCA4 | c.4777C>T (p.Pro1593Ser) n.271C>T c.1153C>T (p.Pro385Ser) | |
| 1 | g.94021711G>C | CA341283717 | ABCA4 | c.4777C>G (p.Pro1593Ala) n.271C>G c.1153C>G (p.Pro385Ala) | |
| 1 | g.94021711G= | CA1181408643 | ABCA4 | c.4777C= (p.Pro1593=) n.271C= c.1153C= (p.Pro385=) | |
| 1 | g.94021711G>T | CA957463 | ABCA4 | c.4777C>A (p.Pro1593Thr) n.271C>A c.1153C>A (p.Pro385Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021712G>A | CA26845052 | ABCA4 | c.4776C>T (p.Gly1592=) n.270C>T c.1152C>T (p.Gly384=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021712G>C | CA418821858 | ABCA4 | c.4776C>G (p.Gly1592=) n.270C>G c.1152C>G (p.Gly384=) | gnomAD v4 |
| 1 | g.94021712G= | CA1181408648 | ABCA4 | c.4776C= (p.Gly1592=) n.270C= c.1152C= (p.Gly384=) | |
| 1 | g.94021712G>T | CA418821859 | ABCA4 | c.4776C>A (p.Gly1592=) n.270C>A c.1152C>A (p.Gly384=) | |
| 1 | g.94021713C>A | CA341283718 | ABCA4 | c.4775G>T (p.Gly1592Val) n.269G>T c.1151G>T (p.Gly384Val) | ClinVar |
| 1 | g.94021713C= | CA1181408655 | ABCA4 | c.4775G= (p.Gly1592=) n.269G= c.1151G= (p.Gly384=) | |
| 1 | g.94021713C>G | CA341283720 | ABCA4 | c.4775G>C (p.Gly1592Ala) n.269G>C c.1151G>C (p.Gly384Ala) | |
| 1 | g.94021713C>T | CA341283719 | ABCA4 | c.4775G>A (p.Gly1592Asp) n.269G>A c.1151G>A (p.Gly384Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021715del | CA2646647600 | ABCA4 | c.4775del n.269del c.1151del | gnomAD v4 |
| 1 | g.94021714C>A | CA341283721 | ABCA4 | c.4774G>T (p.Gly1592Cys) n.268G>T c.1150G>T (p.Gly384Cys) | |
| 1 | g.94021714C>G | CA341283724 | ABCA4 | c.4774G>C (p.Gly1592Arg) n.268G>C c.1150G>C (p.Gly384Arg) | |
| 1 | g.94021714C>T | CA341283723 | ABCA4 | c.4774G>A (p.Gly1592Ser) n.268G>A c.1150G>A (p.Gly384Ser) | |
| 1 | g.94021714_94021715delinsTT | CA645519093 | ABCA4 | c.4774-1_4774delinsAA n.268-1_268delinsAA c.1150-1_1150delinsAA | COSMIC |
| 1 | g.94021715C>A | CA341283726 | ABCA4 | c.4774-1G>T (n.4774-1G>T) n.268-1G>T c.1150-1G>T (n.1150-1G>T) | ClinVar dbSNP |
| 1 | g.94021715C>G | CA341283729 | ABCA4 | c.4774-1G>C (n.4774-1G>C) n.268-1G>C c.1150-1G>C (n.1150-1G>C) | |
| 1 | g.94021715C>T | CA341283727 | ABCA4 | c.4774-1G>A (n.4774-1G>A) n.268-1G>A c.1150-1G>A (n.1150-1G>A) | ClinVar |
| 1 | g.94021716T>A | CA341283731 | ABCA4 | c.4774-2A>T (n.4774-2A>T) n.268-2A>T c.1150-2A>T (n.1150-2A>T) | |
| 1 | g.94021716T>C | CA341283733 | ABCA4 | c.4774-2A>G (n.4774-2A>G) n.268-2A>G c.1150-2A>G (n.1150-2A>G) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.94021716T>G | CA227238 | ABCA4 | c.4774-2A>C (n.4774-2A>C) n.268-2A>C c.1150-2A>C (n.1150-2A>C) | ClinVar dbSNP |
| 1 | g.94021716T= | CA1140725988 | ABCA4 | c.4774-2A= (n.4774-2A=) n.268-2A= c.1150-2A= (n.1150-2A=) | |
| 1 | g.94021716_94021717delinsTA | CA1181408663 | ABCA4 | c.4774-3_4774-2delinsTA (n.4774-3_4774-2delinsTA) n.268-3_268-2delinsTA c.1150-3_1150-2delinsTA (n.1150-3_1150-2delinsTA) | |
| 1 | g.94021717A>G | CA2573132691 | ABCA4 | c.4774-3T>C (n.4774-3T>C) n.268-3T>C c.1150-3T>C (n.1150-3T>C) | ClinVar dbSNP |
| 1 | g.94021721del | CA740489288 | ABCA4 | c.4774-3del (n.4774-3del) n.268-3del c.1150-3del (n.1150-3del) | dbSNP gnomAD v4 |
| 1 | g.94021721A>G | CA2696565708 | ABCA4 | c.4774-7T>C (n.4774-7T>C) n.268-7T>C c.1150-7T>C (n.1150-7T>C) | dbSNP |
| 1 | g.94021722C= | CA1181408672 | ABCA4 | c.4774-8G= (n.4774-8G=) n.268-8G= c.1150-8G= (n.1150-8G=) | |
| 1 | g.94021722C>G | CA2646647611 | ABCA4 | c.4774-8G>C (n.4774-8G>C) n.268-8G>C c.1150-8G>C (n.1150-8G>C) | gnomAD v4 |
| 1 | g.94021722C>T | CA524697405 | ABCA4 | c.4774-8G>A (n.4774-8G>A) n.268-8G>A c.1150-8G>A (n.1150-8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021723C>T | CA2499214882 | ABCA4 | c.4774-9G>A (n.4774-9G>A) n.268-9G>A c.1150-9G>A (n.1150-9G>A) | ClinVar dbSNP |
| 1 | g.94021725T>C | CA2646647613 | ABCA4 | c.4774-11A>G (n.4774-11A>G) n.268-11A>G c.1150-11A>G (n.1150-11A>G) | ClinVar gnomAD v4 |
| 1 | g.94021726G>A | CA26845060 | ABCA4 | c.4774-12C>T (n.4774-12C>T) n.268-12C>T c.1150-12C>T (n.1150-12C>T) | dbSNP |
| 1 | g.94021726G= | CA1181408676 | ABCA4 | c.4774-12C= (n.4774-12C=) n.268-12C= c.1150-12C= (n.1150-12C=) | |
| 1 | g.94021727T= | CA1181408682 | ABCA4 | c.4774-13A= (n.4774-13A=) n.268-13A= c.1150-13A= (n.1150-13A=) | |
| 1 | g.94021727_94021731delinsTAAAC | CA1181408679 | ABCA4 | c.4774-17_4774-13delinsGTTTA (n.4774-17_4774-13delinsGTTTA) n.268-17_268-13delinsGTTTA c.1150-17_1150-13delinsGTTTA (n.1150-17_1150-13delinsGTTTA) | |
| 1 | g.94021729_94021730dup | CA957464 | ABCA4 | c.4774-15_4774-14dup (n.4774-15_4774-14dup) n.268-15_268-14dup c.1150-15_1150-14dup (n.1150-15_1150-14dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021738_94021741dup | CA2574438646 | ABCA4 | c.4774-17_4774-14dup (n.4774-17_4774-14dup) n.268-17_268-14dup c.1150-17_1150-14dup (n.1150-17_1150-14dup) | |
| 1 | g.94021738_94021741del | CA957465 | ABCA4 | c.4774-17_4774-14del (n.4774-17_4774-14del) n.268-17_268-14del c.1150-17_1150-14del (n.1150-17_1150-14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021729A>C | CA2560797774 | ABCA4 | c.4774-15T>G (n.4774-15T>G) n.268-15T>G c.1150-15T>G (n.1150-15T>G) | gnomAD v4 |
| 1 | g.94021729_94021731delinsAAC | CA1181408693 | ABCA4 | c.4774-17_4774-15delinsGTT (n.4774-17_4774-15delinsGTT) n.268-17_268-15delinsGTT c.1150-17_1150-15delinsGTT (n.1150-17_1150-15delinsGTT) | |
| 1 | g.94021730_94021731delinsAC | CA1181408698 | ABCA4 | c.4774-17_4774-16delinsGT (n.4774-17_4774-16delinsGT) n.268-17_268-16delinsGT c.1150-17_1150-16delinsGT (n.1150-17_1150-16delinsGT) | |
| 1 | g.94021730_94021732delinsACA | CA1140624272 | ABCA4 | c.4774-18_4774-16delinsTGT (n.4774-18_4774-16delinsTGT) n.268-18_268-16delinsTGT c.1150-18_1150-16delinsTGT (n.1150-18_1150-16delinsTGT) | |
| 1 | g.94021731_94021732dup | CA26845070 | ABCA4 | c.4774-17_4774-16dup (n.4774-17_4774-16dup) n.268-17_268-16dup c.1150-17_1150-16dup (n.1150-17_1150-16dup) | dbSNP |
| 1 | g.94021731_94021732del | CA957466 | ABCA4 | c.4774-17_4774-16del (n.4774-17_4774-16del) n.268-17_268-16del c.1150-17_1150-16del (n.1150-17_1150-16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021731del | CA916237259 | ABCA4 | c.4774-17del (n.4774-17del) n.268-17del c.1150-17del (n.1150-17del) | dbSNP |
| 1 | g.94021731C>A | CA645706153 | ABCA4 | c.4774-17G>T (n.4774-17G>T) n.268-17G>T c.1150-17G>T (n.1150-17G>T) | dbSNP COSMIC COSMIC |
| 1 | g.94021731C= | CA1181408699 | ABCA4 | c.4774-17G= (n.4774-17G=) n.268-17G= c.1150-17G= (n.1150-17G=) | |
| 1 | g.94021731_94021732delinsAC | CA2499214883 | ABCA4 | c.4774-18_4774-17delinsGT (n.4774-18_4774-17delinsGT) n.268-18_268-17delinsGT c.1150-18_1150-17delinsGT (n.1150-18_1150-17delinsGT) | ClinVar dbSNP |
| 1 | g.94021731_94021733delinsCAA | CA1181408702 | ABCA4 | c.4774-19_4774-17delinsTTG (n.4774-19_4774-17delinsTTG) n.268-19_268-17delinsTTG c.1150-19_1150-17delinsTTG (n.1150-19_1150-17delinsTTG) | |
| 1 | g.94021734dup | CA916237261 | ABCA4 | c.4774-18dup (n.4774-18dup) n.268-18dup c.1150-18dup (n.1150-18dup) | dbSNP |
| 1 | g.94021734del | CA2499214884 | ABCA4 | c.4774-18del (n.4774-18del) n.268-18del c.1150-18del (n.1150-18del) | ClinVar dbSNP |
| 1 | g.94021733_94021734del | CA1181408703 | ABCA4 | c.4774-19_4774-18del (n.4774-19_4774-18del) n.268-19_268-18del c.1150-19_1150-18del (n.1150-19_1150-18del) | dbSNP |
| 1 | g.94021733A= | CA1181408705 | ABCA4 | c.4774-19T= (n.4774-19T=) n.268-19T= c.1150-19T= (n.1150-19T=) | |
| 1 | g.94021733A>G | CA957467 | ABCA4 | c.4774-19T>C (n.4774-19T>C) n.268-19T>C c.1150-19T>C (n.1150-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021734A>T | CA2574438647 | ABCA4 | c.4774-20T>A (n.4774-20T>A) n.268-20T>A c.1150-20T>A (n.1150-20T>A) | |
| 1 | g.94021736A>C | CA2744615666 | ABCA4 | c.4774-22T>G (n.4774-22T>G) n.268-22T>G c.1150-22T>G (n.1150-22T>G) | |
| 1 | g.94021736A>T | CA2646647627 | ABCA4 | c.4774-22T>A (n.4774-22T>A) n.268-22T>A c.1150-22T>A (n.1150-22T>A) | gnomAD v4 |
| 1 | g.94021737_94021741del | CA2744615665 | ABCA4 | c.4774-26_4774-22del (n.4774-26_4774-22del) n.268-26_268-22del c.1150-26_1150-22del (n.1150-26_1150-22del) | |
| 1 | g.94021737A= | CA1181408706 | ABCA4 | c.4774-23T= (n.4774-23T=) n.268-23T= c.1150-23T= (n.1150-23T=) | |
| 1 | g.94021737A>C | CA1181408707 | ABCA4 | c.4774-23T>G (n.4774-23T>G) n.268-23T>G c.1150-23T>G (n.1150-23T>G) | dbSNP gnomAD v4 |
| 1 | g.94021737A>G | CA26845079 | ABCA4 | c.4774-23T>C (n.4774-23T>C) n.268-23T>C c.1150-23T>C (n.1150-23T>C) | dbSNP gnomAD v4 |