| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94021315C>A | CA341283042 | ABCA4 | c.4943G>T (p.Ser1648Ile) n.437G>T n.53G>T c.1319G>T (p.Ser440Ile) | |
| 1 | g.94021315C= | CA1181408140 | ABCA4 | c.4943G= (p.Ser1648=) n.437G= n.53G= c.1319G= (p.Ser440=) | |
| 1 | g.94021315C>G | CA341283044 | ABCA4 | c.4943G>C (p.Ser1648Thr) n.437G>C n.53G>C c.1319G>C (p.Ser440Thr) | gnomAD v4 |
| 1 | g.94021315C>T | CA341283043 | ABCA4 | c.4943G>A (p.Ser1648Asn) n.437G>A n.53G>A c.1319G>A (p.Ser440Asn) | dbSNP |
| 1 | g.94021316T>A | CA341283045 | ABCA4 | c.4942A>T (p.Ser1648Cys) n.436A>T n.52A>T c.1318A>T (p.Ser440Cys) | |
| 1 | g.94021316T>C | CA341283046 | ABCA4 | c.4942A>G (p.Ser1648Gly) n.436A>G n.52A>G c.1318A>G (p.Ser440Gly) | |
| 1 | g.94021316T>G | CA341283047 | ABCA4 | c.4942A>C (p.Ser1648Arg) n.436A>C n.52A>C c.1318A>C (p.Ser440Arg) | |
| 1 | g.94021316T= | CA1181408142 | ABCA4 | c.4942A= (p.Ser1648=) n.436A= n.52A= c.1318A= (p.Ser440=) | |
| 1 | g.94021316_94021317insGGAATTGATGGACGCGGTGCGTGGCCGCGACGCCGA | CA1181408143 | ABCA4 | c.4941_4942insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC (p.Arg1647_Ser1648insSerAlaSerArgProArgThrAlaSerIleAsnSer) n.435_436insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC n.51_52insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC c.1317_1318insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC (p.Arg439_Ser440insSerAlaSerArgProArgThrAlaSerIleAsnSer) | dbSNP |
| 1 | g.94021317C>A | CA341283048 | ABCA4 | c.4941G>T (p.Arg1647Ser) n.435G>T n.51G>T c.1317G>T (p.Arg439Ser) | COSMIC |
| 1 | g.94021317C>G | CA341283049 | ABCA4 | c.4941G>C (p.Arg1647Ser) n.435G>C n.51G>C c.1317G>C (p.Arg439Ser) | |
| 1 | g.94021317C>T | CA418821709 | ABCA4 | c.4941G>A (p.Arg1647=) n.435G>A n.51G>A c.1317G>A (p.Arg439=) | |
| 1 | g.94021318C>A | CA341283050 | ABCA4 | c.4940G>T (p.Arg1647Met) n.434G>T n.50G>T c.1316G>T (p.Arg439Met) | |
| 1 | g.94021318C>G | CA341283052 | ABCA4 | c.4940G>C (p.Arg1647Thr) n.434G>C n.50G>C c.1316G>C (p.Arg439Thr) | |
| 1 | g.94021318C>T | CA341283051 | ABCA4 | c.4940G>A (p.Arg1647Lys) n.434G>A n.50G>A c.1316G>A (p.Arg439Lys) | |
| 1 | g.94021319T>A | CA341283053 | ABCA4 | c.4939A>T (p.Arg1647Trp) n.433A>T n.49A>T c.1315A>T (p.Arg439Trp) | |
| 1 | g.94021319T>C | CA957424 | ABCA4 | c.4939A>G (p.Arg1647Gly) n.433A>G n.49A>G c.1315A>G (p.Arg439Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021319T>G | CA418821710 | ABCA4 | c.4939A>C (p.Arg1647=) n.433A>C n.49A>C c.1315A>C (p.Arg439=) | |
| 1 | g.94021319T= | CA1181408144 | ABCA4 | c.4939A= (p.Arg1647=) n.433A= n.49A= c.1315A= (p.Arg439=) | |
| 1 | g.94021320del | CA2499214880 | ABCA4 | c.4938del (p.Asp1646GlufsTer16) n.432del n.48del c.1314del (p.Asp438GlufsTer16) | ClinVar dbSNP |
| 1 | g.94021320G>A | CA418821711 | ABCA4 | c.4938C>T (p.Asp1646=) n.432C>T n.48C>T c.1314C>T (p.Asp438=) | |
| 1 | g.94021320G>C | CA341283054 | ABCA4 | c.4938C>G (p.Asp1646Glu) n.432C>G n.48C>G c.1314C>G (p.Asp438Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021320G= | CA1181408145 | ABCA4 | c.4938C= (p.Asp1646=) n.432C= n.48C= c.1314C= (p.Asp438=) | |
| 1 | g.94021320G>T | CA341283055 | ABCA4 | c.4938C>A (p.Asp1646Glu) n.432C>A n.48C>A c.1314C>A (p.Asp438Glu) | |
| 1 | g.94021321T>A | CA341283056 | ABCA4 | c.4937A>T (p.Asp1646Val) n.431A>T n.47A>T c.1313A>T (p.Asp438Val) | gnomAD v4 |
| 1 | g.94021321T>C | CA341283057 | ABCA4 | c.4937A>G (p.Asp1646Gly) n.431A>G n.47A>G c.1313A>G (p.Asp438Gly) | |
| 1 | g.94021321T>G | CA341283058 | ABCA4 | c.4937A>C (p.Asp1646Ala) n.431A>C n.47A>C c.1313A>C (p.Asp438Ala) | |
| 1 | g.94021322C>A | CA26844838 | ABCA4 | c.4936G>T (p.Asp1646Tyr) n.430G>T n.46G>T c.1312G>T (p.Asp438Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021322C= | CA1181408146 | ABCA4 | c.4936G= (p.Asp1646=) n.430G= n.46G= c.1312G= (p.Asp438=) | |
| 1 | g.94021322C>G | CA341283059 | ABCA4 | c.4936G>C (p.Asp1646His) n.430G>C n.46G>C c.1312G>C (p.Asp438His) | |
| 1 | g.94021322C>T | CA341283060 | ABCA4 | c.4936G>A (p.Asp1646Asn) n.430G>A n.46G>A c.1312G>A (p.Asp438Asn) | |
| 1 | g.94021323C>A | CA341283061 | ABCA4 | c.4935G>T (p.Lys1645Asn) n.429G>T n.45G>T c.1311G>T (p.Lys437Asn) | |
| 1 | g.94021323C= | CA1181408148 | ABCA4 | c.4935G= (p.Lys1645=) n.429G= n.45G= c.1311G= (p.Lys437=) | |
| 1 | g.94021323C>G | CA957425 | ABCA4 | c.4935G>C (p.Lys1645Asn) n.429G>C n.45G>C c.1311G>C (p.Lys437Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021323C>T | CA418821712 | ABCA4 | c.4935G>A (p.Lys1645=) n.429G>A n.45G>A c.1311G>A (p.Lys437=) | gnomAD v4 |
| 1 | g.94021324T>A | CA341283062 | ABCA4 | c.4934A>T (p.Lys1645Met) n.428A>T n.44A>T c.1310A>T (p.Lys437Met) | |
| 1 | g.94021324T>C | CA341283064 | ABCA4 | c.4934A>G (p.Lys1645Arg) n.428A>G n.44A>G c.1310A>G (p.Lys437Arg) | |
| 1 | g.94021324T>G | CA341283063 | ABCA4 | c.4934A>C (p.Lys1645Thr) n.428A>C n.44A>C c.1310A>C (p.Lys437Thr) | |
| 1 | g.94021325T>A | CA341283065 | ABCA4 | c.4933A>T (p.Lys1645Ter) n.427A>T n.43A>T c.1309A>T (p.Lys437Ter) | |
| 1 | g.94021325T>C | CA341283066 | ABCA4 | c.4933A>G (p.Lys1645Glu) n.427A>G n.43A>G c.1309A>G (p.Lys437Glu) | |
| 1 | g.94021325T>G | CA341283067 | ABCA4 | c.4933A>C (p.Lys1645Gln) n.427A>C n.43A>C c.1309A>C (p.Lys437Gln) | |
| 1 | g.94021326A>C | CA418821713 | ABCA4 | c.4932T>G (p.Pro1644=) n.426T>G n.42T>G c.1308T>G (p.Pro436=) | |
| 1 | g.94021326A>G | CA418821714 | ABCA4 | c.4932T>C (p.Pro1644=) n.426T>C n.42T>C c.1308T>C (p.Pro436=) | dbSNP |
| 1 | g.94021326A>T | CA418821715 | ABCA4 | c.4932T>A (p.Pro1644=) n.426T>A n.42T>A c.1308T>A (p.Pro436=) | |
| 1 | g.94021327G>A | CA341283068 | ABCA4 | c.4931C>T (p.Pro1644Leu) n.425C>T n.41C>T c.1307C>T (p.Pro436Leu) | gnomAD v4 |
| 1 | g.94021327G>C | CA341283069 | ABCA4 | c.4931C>G (p.Pro1644Arg) n.425C>G n.41C>G c.1307C>G (p.Pro436Arg) | |
| 1 | g.94021327G>T | CA341283070 | ABCA4 | c.4931C>A (p.Pro1644His) n.425C>A n.41C>A c.1307C>A (p.Pro436His) | |
| 1 | g.94021328G>A | CA341283071 | ABCA4 | c.4930C>T (p.Pro1644Ser) n.424C>T n.40C>T c.1306C>T (p.Pro436Ser) | |
| 1 | g.94021328G>C | CA341283072 | ABCA4 | c.4930C>G (p.Pro1644Ala) n.424C>G n.40C>G c.1306C>G (p.Pro436Ala) | |
| 1 | g.94021328G>T | CA341283073 | ABCA4 | c.4930C>A (p.Pro1644Thr) n.424C>A n.40C>A c.1306C>A (p.Pro436Thr) | |
| 1 | g.94021329C>A | CA418821716 | ABCA4 | c.4929G>T (p.Leu1643=) n.423G>T n.39G>T c.1305G>T (p.Leu435=) | |
| 1 | g.94021329C= | CA1143374339 | ABCA4 | c.4929G= (p.Leu1643=) n.423G= n.39G= c.1305G= (p.Leu435=) | |
| 1 | g.94021329C>G | CA957426 | ABCA4 | c.4929G>C (p.Leu1643=) n.423G>C n.39G>C c.1305G>C (p.Leu435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021329C>T | CA418821717 | ABCA4 | c.4929G>A (p.Leu1643=) n.423G>A n.39G>A c.1305G>A (p.Leu435=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021330A>C | CA341283074 | ABCA4 | c.4928T>G (p.Leu1643Arg) n.422T>G n.38T>G c.1304T>G (p.Leu435Arg) | |
| 1 | g.94021330A>G | CA341283075 | ABCA4 | c.4928T>C (p.Leu1643Pro) n.422T>C n.38T>C c.1304T>C (p.Leu435Pro) | |
| 1 | g.94021330A>T | CA341283076 | ABCA4 | c.4928T>A (p.Leu1643Gln) n.422T>A n.38T>A c.1304T>A (p.Leu435Gln) | |
| 1 | g.94021330_94021334delinsAGGCT | CA1181408149 | ABCA4 | c.4924_4928delinsAGCCT (p.Ser1642=) n.418_422delinsAGCCT n.34_38delinsAGCCT c.1300_1304delinsAGCCT (p.Ser434=) | |
| 1 | g.94021331_94021342del | CA2646647818 | ABCA4 | c.4917_4928del (p.Arg1640_Leu1643del) n.411_422del n.27_38del c.1293_1304del (p.Arg432_Leu435del) | gnomAD v4 |
| 1 | g.94021331G>A | CA418821718 | ABCA4 | c.4927C>T (p.Leu1643=) n.421C>T n.37C>T c.1303C>T (p.Leu435=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021331G>C | CA957428 | ABCA4 | c.4927C>G (p.Leu1643Val) n.421C>G n.37C>G c.1303C>G (p.Leu435Val) | dbSNP ExAC gnomAD v2 |
| 1 | g.94021331G= | CA1181408152 | ABCA4 | c.4927C= (p.Leu1643=) n.421C= n.37C= c.1303C= (p.Leu435=) | |
| 1 | g.94021331G>T | CA341283077 | ABCA4 | c.4927C>A (p.Leu1643Met) n.421C>A n.37C>A c.1303C>A (p.Leu435Met) | |
| 1 | g.94021332del | CA2586964141 | ABCA4 | c.4927del (p.Leu1643CysfsTer19) n.421del n.37del c.1303del (p.Leu435CysfsTer19) | |
| 1 | g.94021334_94021337del | CA957427 | ABCA4 | c.4924_4927del (p.Ser1642CysfsTer19) n.418_421del n.34_37del c.1300_1303del (p.Ser434CysfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021332G>A | CA418821719 | ABCA4 | c.4926C>T (p.Ser1642=) n.420C>T n.36C>T c.1302C>T (p.Ser434=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021332G>C | CA227255 | ABCA4 | c.4926C>G (p.Ser1642Arg) n.420C>G n.36C>G c.1302C>G (p.Ser434Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021332G= | CA1140725941 | ABCA4 | c.4926C= (p.Ser1642=) n.420C= n.36C= c.1302C= (p.Ser434=) | |
| 1 | g.94021332G>T | CA341283078 | ABCA4 | c.4926C>A (p.Ser1642Arg) n.420C>A n.36C>A c.1302C>A (p.Ser434Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021333C>A | CA957429 | ABCA4 | c.4925G>T (p.Ser1642Ile) n.419G>T n.35G>T c.1301G>T (p.Ser434Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021333C= | CA1141407022 | ABCA4 | c.4925G= (p.Ser1642=) n.419G= n.35G= c.1301G= (p.Ser434=) | |
| 1 | g.94021333C>G | CA341283079 | ABCA4 | c.4925G>C (p.Ser1642Thr) n.419G>C n.35G>C c.1301G>C (p.Ser434Thr) | gnomAD v4 |
| 1 | g.94021333C>T | CA341283080 | ABCA4 | c.4925G>A (p.Ser1642Asn) n.419G>A n.35G>A c.1301G>A (p.Ser434Asn) | |
| 1 | g.94021334T>A | CA341283081 | ABCA4 | c.4924A>T (p.Ser1642Cys) n.418A>T n.34A>T c.1300A>T (p.Ser434Cys) | |
| 1 | g.94021334T>C | CA341283082 | ABCA4 | c.4924A>G (p.Ser1642Gly) n.418A>G n.34A>G c.1300A>G (p.Ser434Gly) | |
| 1 | g.94021334T>G | CA341283083 | ABCA4 | c.4924A>C (p.Ser1642Arg) n.418A>C n.34A>C c.1300A>C (p.Ser434Arg) | |
| 1 | g.94021335G>A | CA418821720 | ABCA4 | c.4923C>T (p.Ala1641=) n.417C>T n.33C>T c.1299C>T (p.Ala433=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021335G>C | CA418821721 | ABCA4 | c.4923C>G (p.Ala1641=) n.417C>G n.33C>G c.1299C>G (p.Ala433=) | |
| 1 | g.94021335G= | CA1181408158 | ABCA4 | c.4923C= (p.Ala1641=) n.417C= n.33C= c.1299C= (p.Ala433=) | |
| 1 | g.94021335G>T | CA418821722 | ABCA4 | c.4923C>A (p.Ala1641=) n.417C>A n.33C>A c.1299C>A (p.Ala433=) | |
| 1 | g.94021336G>A | CA341283084 | ABCA4 | c.4922C>T (p.Ala1641Val) n.416C>T n.32C>T c.1298C>T (p.Ala433Val) | |
| 1 | g.94021336G>C | CA341283085 | ABCA4 | c.4922C>G (p.Ala1641Gly) n.416C>G n.32C>G c.1298C>G (p.Ala433Gly) | |
| 1 | g.94021336G>T | CA341283086 | ABCA4 | c.4922C>A (p.Ala1641Asp) n.416C>A n.32C>A c.1298C>A (p.Ala433Asp) | |
| 1 | g.94021337C>A | CA341283089 | ABCA4 | c.4921G>T (p.Ala1641Ser) n.415G>T n.31G>T c.1297G>T (p.Ala433Ser) | |
| 1 | g.94021337C= | CA1181408160 | ABCA4 | c.4921G= (p.Ala1641=) n.415G= n.31G= c.1297G= (p.Ala433=) | |
| 1 | g.94021337C>G | CA341283087 | ABCA4 | c.4921G>C (p.Ala1641Pro) n.415G>C n.31G>C c.1297G>C (p.Ala433Pro) | |
| 1 | g.94021337C>T | CA341283088 | ABCA4 | c.4921G>A (p.Ala1641Thr) n.415G>A n.31G>A c.1297G>A (p.Ala433Thr) | ClinVar dbSNP |
| 1 | g.94021338C>A | CA418821725 | ABCA4 | c.4920G>T (p.Arg1640=) n.414G>T n.30G>T c.1296G>T (p.Arg432=) | |
| 1 | g.94021338C>G | CA418821724 | ABCA4 | c.4920G>C (p.Arg1640=) n.414G>C n.30G>C c.1296G>C (p.Arg432=) | |
| 1 | g.94021338C>T | CA418821723 | ABCA4 | c.4920G>A (p.Arg1640=) n.414G>A n.30G>A c.1296G>A (p.Arg432=) | |
| 1 | g.94021339C>A | CA341283090 | ABCA4 | c.4919G>T (p.Arg1640Leu) n.413G>T n.29G>T c.1295G>T (p.Arg432Leu) | |
| 1 | g.94021339C= | CA1140725944 | ABCA4 | c.4919G= (p.Arg1640=) n.413G= n.29G= c.1295G= (p.Arg432=) | |
| 1 | g.94021339C>G | CA341283091 | ABCA4 | c.4919G>C (p.Arg1640Pro) n.413G>C n.29G>C c.1295G>C (p.Arg432Pro) | |
| 1 | g.94021339C>T | CA227254 | ABCA4 | c.4919G>A (p.Arg1640Gln) n.413G>A n.29G>A c.1295G>A (p.Arg432Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021340del | CA2739272644 | ABCA4 | c.4918del (p.Arg1640GlyfsTer22) n.412del n.28del c.1294del (p.Arg432GlyfsTer22) | ClinVar |
| 1 | g.94021340G>A | CA227253 | ABCA4 | c.4918C>T (p.Arg1640Trp) n.412C>T n.28C>T c.1294C>T (p.Arg432Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021340G>C | CA341283092 | ABCA4 | c.4918C>G (p.Arg1640Gly) n.412C>G n.28C>G c.1294C>G (p.Arg432Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021340G= | CA1140725947 | ABCA4 | c.4918C= (p.Arg1640=) n.412C= n.28C= c.1294C= (p.Arg432=) | |
| 1 | g.94021340G>T | CA418821726 | ABCA4 | c.4918C>A (p.Arg1640=) n.412C>A n.28C>A c.1294C>A (p.Arg432=) | |
| 1 | g.94021341T>A | CA341283093 | ABCA4 | c.4917A>T (p.Leu1639Phe) n.411A>T n.27A>T c.1293A>T (p.Leu431Phe) | |
| 1 | g.94021341T>C | CA418821727 | ABCA4 | c.4917A>G (p.Leu1639=) n.411A>G n.27A>G c.1293A>G (p.Leu431=) | |
| 1 | g.94021341T>G | CA341283094 | ABCA4 | c.4917A>C (p.Leu1639Phe) n.411A>C n.27A>C c.1293A>C (p.Leu431Phe) | dbSNP gnomAD v2 |
| 1 | g.94021341T= | CA1181408172 | ABCA4 | c.4917A= (p.Leu1639=) n.411A= n.27A= c.1293A= (p.Leu431=) | |
| 1 | g.94021342A>C | CA341283095 | ABCA4 | c.4916T>G (p.Leu1639Ter) n.410T>G n.26T>G c.1292T>G (p.Leu431Ter) | |
| 1 | g.94021342A>G | CA341283096 | ABCA4 | c.4916T>C (p.Leu1639Ser) n.410T>C n.26T>C c.1292T>C (p.Leu431Ser) | |
| 1 | g.94021342A>T | CA341283097 | ABCA4 | c.4916T>A (p.Leu1639Ter) n.410T>A n.26T>A c.1292T>A (p.Leu431Ter) | |
| 1 | g.94021343A>C | CA341283098 | ABCA4 | c.4915T>G (p.Leu1639Val) n.409T>G n.25T>G c.1291T>G (p.Leu431Val) | |
| 1 | g.94021343A>G | CA418821728 | ABCA4 | c.4915T>C (p.Leu1639=) n.409T>C n.25T>C c.1291T>C (p.Leu431=) | |
| 1 | g.94021343A>T | CA341283099 | ABCA4 | c.4915T>A (p.Leu1639Ile) n.409T>A n.25T>A c.1291T>A (p.Leu431Ile) | |
| 1 | g.94021344G>A | CA418821729 | ABCA4 | c.4914C>T (p.Ile1638=) n.408C>T n.24C>T c.1290C>T (p.Ile430=) | gnomAD v4 |
| 1 | g.94021344G>C | CA341283100 | ABCA4 | c.4914C>G (p.Ile1638Met) n.408C>G n.24C>G c.1290C>G (p.Ile430Met) | |
| 1 | g.94021344G= | CA1181408175 | ABCA4 | c.4914C= (p.Ile1638=) n.408C= n.24C= c.1290C= (p.Ile430=) | |
| 1 | g.94021344G>T | CA957430 | ABCA4 | c.4914C>A (p.Ile1638=) n.408C>A n.24C>A c.1290C>A (p.Ile430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021345A>C | CA341283101 | ABCA4 | c.4913T>G (p.Ile1638Ser) n.407T>G n.23T>G c.1289T>G (p.Ile430Ser) | |
| 1 | g.94021345A>G | CA341283102 | ABCA4 | c.4913T>C (p.Ile1638Thr) n.407T>C n.23T>C c.1289T>C (p.Ile430Thr) | ClinVar |
| 1 | g.94021345A>T | CA341283103 | ABCA4 | c.4913T>A (p.Ile1638Asn) n.407T>A n.23T>A c.1289T>A (p.Ile430Asn) | |
| 1 | g.94021346T>A | CA341283104 | ABCA4 | c.4912A>T (p.Ile1638Phe) n.406A>T n.22A>T c.1288A>T (p.Ile430Phe) | |
| 1 | g.94021346T>C | CA341283106 | ABCA4 | c.4912A>G (p.Ile1638Val) n.406A>G n.22A>G c.1288A>G (p.Ile430Val) | gnomAD v4 |
| 1 | g.94021346T>G | CA341283105 | ABCA4 | c.4912A>C (p.Ile1638Leu) n.406A>C n.22A>C c.1288A>C (p.Ile430Leu) | |
| 1 | g.94021347G>A | CA957431 | ABCA4 | c.4911C>T (p.Ala1637=) n.405C>T n.21C>T c.1287C>T (p.Ala429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021347G>C | CA418821730 | ABCA4 | c.4911C>G (p.Ala1637=) n.405C>G n.21C>G c.1287C>G (p.Ala429=) | |
| 1 | g.94021347G= | CA1143476506 | ABCA4 | c.4911C= (p.Ala1637=) n.405C= n.21C= c.1287C= (p.Ala429=) | |
| 1 | g.94021347G>T | CA418821731 | ABCA4 | c.4911C>A (p.Ala1637=) n.405C>A n.21C>A c.1287C>A (p.Ala429=) | |
| 1 | g.94021348del | CA2574438545 | ABCA4 | c.4911del (p.Ile1638SerfsTer24) n.405del n.21del c.1287del (p.Ile430SerfsTer24) | |
| 1 | g.94021348G>A | CA341283107 | ABCA4 | c.4910C>T (p.Ala1637Val) n.404C>T n.20C>T c.1286C>T (p.Ala429Val) | |
| 1 | g.94021348G>C | CA341283108 | ABCA4 | c.4910C>G (p.Ala1637Gly) n.404C>G n.20C>G c.1286C>G (p.Ala429Gly) | |
| 1 | g.94021348G>T | CA341283109 | ABCA4 | c.4910C>A (p.Ala1637Asp) n.404C>A n.20C>A c.1286C>A (p.Ala429Asp) | |
| 1 | g.94021349C>A | CA341283110 | ABCA4 | c.4909G>T (p.Ala1637Ser) n.403G>T n.19G>T c.1285G>T (p.Ala429Ser) | ClinVar gnomAD v4 |
| 1 | g.94021349C= | CA1140725953 | ABCA4 | c.4909G= (p.Ala1637=) n.403G= n.19G= c.1285G= (p.Ala429=) | |
| 1 | g.94021349C>G | CA341283111 | ABCA4 | c.4909G>C (p.Ala1637Pro) n.403G>C n.19G>C c.1285G>C (p.Ala429Pro) | |
| 1 | g.94021349C>T | CA227251 | ABCA4 | c.4909G>A (p.Ala1637Thr) n.403G>A n.19G>A c.1285G>A (p.Ala429Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021350G>A | CA957432 | ABCA4 | c.4908C>T (p.Asn1636=) n.402C>T n.18C>T c.1284C>T (p.Asn428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021350G>C | CA341283112 | ABCA4 | c.4908C>G (p.Asn1636Lys) n.402C>G n.18C>G c.1284C>G (p.Asn428Lys) | |
| 1 | g.94021350G= | CA1181408182 | ABCA4 | c.4908C= (p.Asn1636=) n.402C= n.18C= c.1284C= (p.Asn428=) | |
| 1 | g.94021350G>T | CA341283113 | ABCA4 | c.4908C>A (p.Asn1636Lys) n.402C>A n.18C>A c.1284C>A (p.Asn428Lys) | COSMIC |
| 1 | g.94021351T>A | CA341283115 | ABCA4 | c.4907A>T (p.Asn1636Ile) n.401A>T n.17A>T c.1283A>T (p.Asn428Ile) | |
| 1 | g.94021351T>C | CA341283116 | ABCA4 | c.4907A>G (p.Asn1636Ser) n.401A>G n.17A>G c.1283A>G (p.Asn428Ser) | ClinVar gnomAD v4 |
| 1 | g.94021351T>G | CA341283114 | ABCA4 | c.4907A>C (p.Asn1636Thr) n.401A>C n.17A>C c.1283A>C (p.Asn428Thr) | |
| 1 | g.94021352del | CA2646647831 | ABCA4 | c.4907del (p.Asn1636ThrfsTer26) n.401del n.17del c.1283del (p.Asn428ThrfsTer26) | gnomAD v4 |
| 1 | g.94021352T>A | CA341283117 | ABCA4 | c.4906A>T (p.Asn1636Tyr) n.400A>T n.16A>T c.1282A>T (p.Asn428Tyr) | |
| 1 | g.94021352T>C | CA341283118 | ABCA4 | c.4906A>G (p.Asn1636Asp) n.400A>G n.16A>G c.1282A>G (p.Asn428Asp) | |
| 1 | g.94021352T>G | CA341283119 | ABCA4 | c.4906A>C (p.Asn1636His) n.400A>C n.16A>C c.1282A>C (p.Asn428His) | |
| 1 | g.94021352_94021361del | CA2586964143 | ABCA4 | c.4897_4906del (p.Val1633ThrfsTer26) n.391_400del n.7_16del c.1273_1282del (p.Val425ThrfsTer26) | |
| 1 | g.94021353G>A | CA418821732 | ABCA4 | c.4905C>T (p.His1635=) n.399C>T n.15C>T c.1281C>T (p.His427=) | ClinVar gnomAD v4 |
| 1 | g.94021353G>C | CA341283120 | ABCA4 | c.4905C>G (p.His1635Gln) n.399C>G n.15C>G c.1281C>G (p.His427Gln) | |
| 1 | g.94021353G= | CA1181408183 | ABCA4 | c.4905C= (p.His1635=) n.399C= n.15C= c.1281C= (p.His427=) | |
| 1 | g.94021353G>T | CA341283121 | ABCA4 | c.4905C>A (p.His1635Gln) n.399C>A n.15C>A c.1281C>A (p.His427Gln) | dbSNP COSMIC |
| 1 | g.94021354T>A | CA341283122 | ABCA4 | c.4904A>T (p.His1635Leu) n.398A>T n.14A>T c.1280A>T (p.His427Leu) | |
| 1 | g.94021354T>C | CA341283123 | ABCA4 | c.4904A>G (p.His1635Arg) n.398A>G n.14A>G c.1280A>G (p.His427Arg) | |
| 1 | g.94021354T>G | CA341283124 | ABCA4 | c.4904A>C (p.His1635Pro) n.398A>C n.14A>C c.1280A>C (p.His427Pro) | |
| 1 | g.94021355G>A | CA341283125 | ABCA4 | c.4903C>T (p.His1635Tyr) n.397C>T n.13C>T c.1279C>T (p.His427Tyr) | |
| 1 | g.94021355G>C | CA341283126 | ABCA4 | c.4903C>G (p.His1635Asp) n.397C>G n.13C>G c.1279C>G (p.His427Asp) | |
| 1 | g.94021355G>T | CA341283127 | ABCA4 | c.4903C>A (p.His1635Asn) n.397C>A n.13C>A c.1279C>A (p.His427Asn) | |
| 1 | g.94021356G>A | CA418821733 | ABCA4 | c.4902C>T (p.Ala1634=) n.396C>T n.12C>T c.1278C>T (p.Ala426=) | |
| 1 | g.94021356G>C | CA418821734 | ABCA4 | c.4902C>G (p.Ala1634=) n.396C>G n.12C>G c.1278C>G (p.Ala426=) | |
| 1 | g.94021356G>T | CA418821735 | ABCA4 | c.4902C>A (p.Ala1634=) n.396C>A n.12C>A c.1278C>A (p.Ala426=) | |
| 1 | g.94021357G>A | CA341283129 | ABCA4 | c.4901C>T (p.Ala1634Val) n.395C>T n.11C>T c.1277C>T (p.Ala426Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021357G>C | CA341283130 | ABCA4 | c.4901C>G (p.Ala1634Gly) n.395C>G n.11C>G c.1277C>G (p.Ala426Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021357G= | CA1181408184 | ABCA4 | c.4901C= (p.Ala1634=) n.395C= n.11C= c.1277C= (p.Ala426=) | |
| 1 | g.94021357G>T | CA341283128 | ABCA4 | c.4901C>A (p.Ala1634Asp) n.395C>A n.11C>A c.1277C>A (p.Ala426Asp) | |
| 1 | g.94021358C>A | CA341283131 | ABCA4 | c.4900G>T (p.Ala1634Ser) n.394G>T n.10G>T c.1276G>T (p.Ala426Ser) | ClinVar dbSNP |
| 1 | g.94021358C= | CA1181408192 | ABCA4 | c.4900G= (p.Ala1634=) n.394G= n.10G= c.1276G= (p.Ala426=) | |
| 1 | g.94021358C>G | CA341283132 | ABCA4 | c.4900G>C (p.Ala1634Pro) n.394G>C n.10G>C c.1276G>C (p.Ala426Pro) | |
| 1 | g.94021358C>T | CA341283133 | ABCA4 | c.4900G>A (p.Ala1634Thr) n.394G>A n.10G>A c.1276G>A (p.Ala426Thr) | ClinVar dbSNP |
| 1 | g.94021359C>A | CA418821738 | ABCA4 | c.4899G>T (p.Val1633=) n.393G>T n.9G>T c.1275G>T (p.Val425=) | |
| 1 | g.94021359C= | CA1181408200 | ABCA4 | c.4899G= (p.Val1633=) n.393G= n.9G= c.1275G= (p.Val425=) | |
| 1 | g.94021359C>G | CA418821737 | ABCA4 | c.4899G>C (p.Val1633=) n.393G>C n.9G>C c.1275G>C (p.Val425=) | |
| 1 | g.94021359C>T | CA418821736 | ABCA4 | c.4899G>A (p.Val1633=) n.393G>A n.9G>A c.1275G>A (p.Val425=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021360A>C | CA341283134 | ABCA4 | c.4898T>G (p.Val1633Gly) n.392T>G n.8T>G c.1274T>G (p.Val425Gly) | |
| 1 | g.94021360A>G | CA341283135 | ABCA4 | c.4898T>C (p.Val1633Ala) n.392T>C n.8T>C c.1274T>C (p.Val425Ala) | |
| 1 | g.94021360A>T | CA341283136 | ABCA4 | c.4898T>A (p.Val1633Glu) n.392T>A n.8T>A c.1274T>A (p.Val425Glu) | |
| 1 | g.94021361_94021369dup | CA916079779 | ABCA4 | c.4890_4898dup (p.Val1633_Ala1634insLeuAsnVal) n.384_392dup c.1266_1274dup (p.Val425_Ala426insLeuAsnVal) | |
| 1 | g.94021361C>A | CA341283137 | ABCA4 | c.4897G>T (p.Val1633Leu) n.391G>T n.7G>T c.1273G>T (p.Val425Leu) | |
| 1 | g.94021361C>G | CA341283139 | ABCA4 | c.4897G>C (p.Val1633Leu) n.391G>C n.7G>C c.1273G>C (p.Val425Leu) | |
| 1 | g.94021361C>T | CA341283138 | ABCA4 | c.4897G>A (p.Val1633Met) n.391G>A n.7G>A c.1273G>A (p.Val425Met) | ClinVar gnomAD v4 |
| 1 | g.94021362A= | CA1181408206 | ABCA4 | c.4896T= (p.Asn1632=) n.390T= n.6T= c.1272T= (p.Asn424=) | |
| 1 | g.94021362A>C | CA341283140 | ABCA4 | c.4896T>G (p.Asn1632Lys) n.390T>G n.6T>G c.1272T>G (p.Asn424Lys) | |
| 1 | g.94021362A>G | CA418821739 | ABCA4 | c.4896T>C (p.Asn1632=) n.390T>C n.6T>C c.1272T>C (p.Asn424=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021362A>T | CA341283141 | ABCA4 | c.4896T>A (p.Asn1632Lys) n.390T>A n.6T>A c.1272T>A (p.Asn424Lys) | gnomAD v4 |
| 1 | g.94021363T>A | CA341283142 | ABCA4 | c.4895A>T (p.Asn1632Ile) n.389A>T n.5A>T c.1271A>T (p.Asn424Ile) | |
| 1 | g.94021363T>C | CA957433 | ABCA4 | c.4895A>G (p.Asn1632Ser) n.389A>G n.5A>G c.1271A>G (p.Asn424Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021363T>G | CA341283143 | ABCA4 | c.4895A>C (p.Asn1632Thr) n.389A>C n.5A>C c.1271A>C (p.Asn424Thr) | |
| 1 | g.94021363T= | CA1148233495 | ABCA4 | c.4895A= (p.Asn1632=) n.389A= n.5A= c.1271A= (p.Asn424=) | |
| 1 | g.94021364dup | CA915941330 | ABCA4 | c.4895dup (p.Asn1632LysfsTer14) n.389dup n.5dup c.1271dup (p.Asn424LysfsTer14) | ClinVar dbSNP |
| 1 | g.94021364del | CA2573132688 | ABCA4 | c.4895del (p.Asn1632MetfsTer30) n.389del n.5del c.1271del (p.Asn424MetfsTer30) | ClinVar dbSNP |
| 1 | g.94021364T>A | CA341283146 | ABCA4 | c.4894A>T (p.Asn1632Tyr) n.388A>T n.4A>T c.1270A>T (p.Asn424Tyr) | |
| 1 | g.94021364T>C | CA341283145 | ABCA4 | c.4894A>G (p.Asn1632Asp) n.388A>G n.4A>G c.1270A>G (p.Asn424Asp) | |
| 1 | g.94021364T>G | CA341283144 | ABCA4 | c.4894A>C (p.Asn1632His) n.388A>C n.4A>C c.1270A>C (p.Asn424His) | |
| 1 | g.94021365G>A | CA418821740 | ABCA4 | c.4893C>T (p.Leu1631=) n.387C>T n.3C>T c.1269C>T (p.Leu423=) | |
| 1 | g.94021365G>C | CA418821741 | ABCA4 | c.4893C>G (p.Leu1631=) n.387C>G n.3C>G c.1269C>G (p.Leu423=) | |
| 1 | g.94021365G>T | CA418821742 | ABCA4 | c.4893C>A (p.Leu1631=) n.387C>A n.3C>A c.1269C>A (p.Leu423=) | |
| 1 | g.94021366A= | CA1140725956 | ABCA4 | c.4892T= (p.Leu1631=) n.386T= n.2T= c.1268T= (p.Leu423=) | |
| 1 | g.94021366A>C | CA341283148 | ABCA4 | c.4892T>G (p.Leu1631Arg) n.386T>G n.2T>G c.1268T>G (p.Leu423Arg) | |
| 1 | g.94021366A>G | CA227250 | ABCA4 | c.4892T>C (p.Leu1631Pro) n.386T>C n.2T>C c.1268T>C (p.Leu423Pro) | ClinVar dbSNP |
| 1 | g.94021366A>T | CA341283147 | ABCA4 | c.4892T>A (p.Leu1631His) n.386T>A n.2T>A c.1268T>A (p.Leu423His) | |
| 1 | g.94021367G>A | CA341283149 | ABCA4 | c.4891C>T (p.Leu1631Phe) n.385C>T n.1C>T c.1267C>T (p.Leu423Phe) | |
| 1 | g.94021367G>C | CA341283150 | ABCA4 | c.4891C>G (p.Leu1631Val) n.385C>G n.1C>G c.1267C>G (p.Leu423Val) | gnomAD v4 |
| 1 | g.94021367G>T | CA341283151 | ABCA4 | c.4891C>A (p.Leu1631Ile) n.385C>A n.1C>A c.1267C>A (p.Leu423Ile) | |
| 1 | g.94021368A>C | CA341283152 | ABCA4 | c.4890T>G (p.Phe1630Leu) n.384T>G c.1266T>G (p.Phe422Leu) | |
| 1 | g.94021368A>G | CA418821743 | ABCA4 | c.4890T>C (p.Phe1630=) n.384T>C c.1266T>C (p.Phe422=) | |
| 1 | g.94021368A>T | CA341283153 | ABCA4 | c.4890T>A (p.Phe1630Leu) n.384T>A c.1266T>A (p.Phe422Leu) | |
| 1 | g.94021369A= | CA1181408219 | ABCA4 | c.4889T= (p.Phe1630=) n.383T= c.1265T= (p.Phe422=) | |
| 1 | g.94021369A>C | CA341283154 | ABCA4 | c.4889T>G (p.Phe1630Cys) n.383T>G c.1265T>G (p.Phe422Cys) | |
| 1 | g.94021369A>G | CA341283155 | ABCA4 | c.4889T>C (p.Phe1630Ser) n.383T>C c.1265T>C (p.Phe422Ser) | ClinVar dbSNP |
| 1 | g.94021369A>T | CA341283156 | ABCA4 | c.4889T>A (p.Phe1630Tyr) n.383T>A c.1265T>A (p.Phe422Tyr) | |
| 1 | g.94021370A>C | CA341283157 | ABCA4 | c.4888T>G (p.Phe1630Val) n.382T>G c.1264T>G (p.Phe422Val) | |
| 1 | g.94021370A>G | CA341283158 | ABCA4 | c.4888T>C (p.Phe1630Leu) n.382T>C c.1264T>C (p.Phe422Leu) | |
| 1 | g.94021370A>T | CA341283159 | ABCA4 | c.4888T>A (p.Phe1630Ile) n.382T>A c.1264T>A (p.Phe422Ile) | |
| 1 | g.94021371G>A | CA418821744 | ABCA4 | c.4887C>T (p.Ser1629=) n.381C>T c.1263C>T (p.Ser421=) | |
| 1 | g.94021371G>C | CA341283161 | ABCA4 | c.4887C>G (p.Ser1629Arg) n.381C>G c.1263C>G (p.Ser421Arg) | dbSNP gnomAD v2 |
| 1 | g.94021371G= | CA1181408222 | ABCA4 | c.4887C= (p.Ser1629=) n.381C= c.1263C= (p.Ser421=) | |
| 1 | g.94021371G>T | CA341283160 | ABCA4 | c.4887C>A (p.Ser1629Arg) n.381C>A c.1263C>A (p.Ser421Arg) | gnomAD v4 |
| 1 | g.94021372C>A | CA341283162 | ABCA4 | c.4886G>T (p.Ser1629Ile) n.380G>T c.1262G>T (p.Ser421Ile) | |
| 1 | g.94021372C>G | CA341283163 | ABCA4 | c.4886G>C (p.Ser1629Thr) n.380G>C c.1262G>C (p.Ser421Thr) | |
| 1 | g.94021372C>T | CA341283164 | ABCA4 | c.4886G>A (p.Ser1629Asn) n.380G>A c.1262G>A (p.Ser421Asn) | |
| 1 | g.94021373T>A | CA341283165 | ABCA4 | c.4885A>T (p.Ser1629Cys) n.379A>T c.1261A>T (p.Ser421Cys) | |
| 1 | g.94021373T>C | CA341283166 | ABCA4 | c.4885A>G (p.Ser1629Gly) n.379A>G c.1261A>G (p.Ser421Gly) | dbSNP gnomAD v4 |
| 1 | g.94021373T>G | CA341283167 | ABCA4 | c.4885A>C (p.Ser1629Arg) n.379A>C c.1261A>C (p.Ser421Arg) | |
| 1 | g.94021373T= | CA1181408224 | ABCA4 | c.4885A= (p.Ser1629=) n.379A= c.1261A= (p.Ser421=) | |
| 1 | g.94021374G>A | CA418821745 | ABCA4 | c.4884C>T (p.Val1628=) n.378C>T c.1260C>T (p.Val420=) | |
| 1 | g.94021374G>C | CA418821746 | ABCA4 | c.4884C>G (p.Val1628=) n.378C>G c.1260C>G (p.Val420=) | |
| 1 | g.94021374G>T | CA418821747 | ABCA4 | c.4884C>A (p.Val1628=) n.378C>A c.1260C>A (p.Val420=) | gnomAD v4 |
| 1 | g.94021375A= | CA1181408227 | ABCA4 | c.4883T= (p.Val1628=) n.377T= c.1259T= (p.Val420=) | |
| 1 | g.94021375A>C | CA341283168 | ABCA4 | c.4883T>G (p.Val1628Gly) n.377T>G c.1259T>G (p.Val420Gly) | |
| 1 | g.94021375A>G | CA341283169 | ABCA4 | c.4883T>C (p.Val1628Ala) n.377T>C c.1259T>C (p.Val420Ala) | dbSNP gnomAD v4 |
| 1 | g.94021375A>T | CA341283170 | ABCA4 | c.4883T>A (p.Val1628Asp) n.377T>A c.1259T>A (p.Val420Asp) | |
| 1 | g.94021376C>A | CA341283171 | ABCA4 | c.4882G>T (p.Val1628Phe) n.376G>T c.1258G>T (p.Val420Phe) | |
| 1 | g.94021376C>G | CA341283172 | ABCA4 | c.4882G>C (p.Val1628Leu) n.376G>C c.1258G>C (p.Val420Leu) | |
| 1 | g.94021376C>T | CA341283173 | ABCA4 | c.4882G>A (p.Val1628Ile) n.376G>A c.1258G>A (p.Val420Ile) | gnomAD v4 |
| 1 | g.94021377dup | CA2646647345 | ABCA4 | c.4882dup (p.Val1628GlyfsTer18) n.376dup c.1258dup (p.Val420GlyfsTer18) | gnomAD v4 |
| 1 | g.94021377C>A | CA418821748 | ABCA4 | c.4881G>T (p.Leu1627=) n.375G>T c.1257G>T (p.Leu419=) | |
| 1 | g.94021377C= | CA1181408230 | ABCA4 | c.4881G= (p.Leu1627=) n.375G= c.1257G= (p.Leu419=) | |
| 1 | g.94021377C>G | CA418821749 | ABCA4 | c.4881G>C (p.Leu1627=) n.375G>C c.1257G>C (p.Leu419=) | dbSNP gnomAD v4 |
| 1 | g.94021377C>T | CA418821750 | ABCA4 | c.4881G>A (p.Leu1627=) n.375G>A c.1257G>A (p.Leu419=) | gnomAD v4 |
| 1 | g.94021377_94021378delinsCA | CA1181408229 | ABCA4 | c.4880_4881delinsTG (p.Leu1627=) n.374_375delinsTG c.1256_1257delinsTG (p.Leu419=) | |
| 1 | g.94021378del | CA957434 | ABCA4 | c.4880del (p.Leu1627ArgfsTer?) n.374del c.1256del (p.Leu419ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021378A>C | CA341283175 | ABCA4 | c.4880T>G (p.Leu1627Arg) n.374T>G c.1256T>G (p.Leu419Arg) | |
| 1 | g.94021378A>G | CA341283176 | ABCA4 | c.4880T>C (p.Leu1627Pro) n.374T>C c.1256T>C (p.Leu419Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021378A>T | CA341283174 | ABCA4 | c.4880T>A (p.Leu1627Gln) n.374T>A c.1256T>A (p.Leu419Gln) | |
| 1 | g.94021379G>A | CA418821751 | ABCA4 | c.4879C>T (p.Leu1627=) n.373C>T c.1255C>T (p.Leu419=) | gnomAD v4 |
| 1 | g.94021379G>C | CA341283177 | ABCA4 | c.4879C>G (p.Leu1627Val) n.373C>G c.1255C>G (p.Leu419Val) | |
| 1 | g.94021379G>T | CA341283178 | ABCA4 | c.4879C>A (p.Leu1627Met) n.373C>A c.1255C>A (p.Leu419Met) | |
| 1 | g.94021380G>A | CA418821753 | ABCA4 | c.4878C>T (p.Ala1626=) n.372C>T c.1254C>T (p.Ala418=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021380G>C | CA418821754 | ABCA4 | c.4878C>G (p.Ala1626=) n.372C>G c.1254C>G (p.Ala418=) | |
| 1 | g.94021380G= | CA1181408241 | ABCA4 | c.4878C= (p.Ala1626=) n.372C= c.1254C= (p.Ala418=) | |
| 1 | g.94021380G>T | CA418821752 | ABCA4 | c.4878C>A (p.Ala1626=) n.372C>A c.1254C>A (p.Ala418=) | |
| 1 | g.94021381G>A | CA341283179 | ABCA4 | c.4877C>T (p.Ala1626Val) n.371C>T c.1253C>T (p.Ala418Val) | dbSNP COSMIC |
| 1 | g.94021381G>C | CA26844872 | ABCA4 | c.4877C>G (p.Ala1626Gly) n.371C>G c.1253C>G (p.Ala418Gly) | dbSNP |
| 1 | g.94021381G= | CA1181408245 | ABCA4 | c.4877C= (p.Ala1626=) n.371C= c.1253C= (p.Ala418=) | |
| 1 | g.94021381G>T | CA341283180 | ABCA4 | c.4877C>A (p.Ala1626Asp) n.371C>A c.1253C>A (p.Ala418Asp) | ClinVar |
| 1 | g.94021382C>A | CA341283181 | ABCA4 | c.4876G>T (p.Ala1626Ser) n.370G>T c.1252G>T (p.Ala418Ser) | |
| 1 | g.94021382C>G | CA341283182 | ABCA4 | c.4876G>C (p.Ala1626Pro) n.370G>C c.1252G>C (p.Ala418Pro) | |
| 1 | g.94021382C>T | CA341283183 | ABCA4 | c.4876G>A (p.Ala1626Thr) n.370G>A c.1252G>A (p.Ala418Thr) | |
| 1 | g.94021383A= | CA1140725959 | ABCA4 | c.4875T= (p.His1625=) n.369T= c.1251T= (p.His417=) | |
| 1 | g.94021383A>C | CA341283184 | ABCA4 | c.4875T>G (p.His1625Gln) n.369T>G c.1251T>G (p.His417Gln) | |
| 1 | g.94021383A>G | CA26844876 | ABCA4 | c.4875T>C (p.His1625=) n.369T>C c.1251T>C (p.His417=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021383A>T | CA227248 | ABCA4 | c.4875T>A (p.His1625Gln) n.369T>A c.1251T>A (p.His417Gln) | ClinVar dbSNP |
| 1 | g.94021384T>A | CA341283185 | ABCA4 | c.4874A>T (p.His1625Leu) n.368A>T c.1250A>T (p.His417Leu) | |
| 1 | g.94021384T>C | CA26844877 | ABCA4 | c.4874A>G (p.His1625Arg) n.368A>G c.1250A>G (p.His417Arg) | ClinVar dbSNP |
| 1 | g.94021384T>G | CA341283186 | ABCA4 | c.4874A>C (p.His1625Pro) n.368A>C c.1250A>C (p.His417Pro) | |
| 1 | g.94021384T= | CA1181408251 | ABCA4 | c.4874A= (p.His1625=) n.368A= c.1250A= (p.His417=) | |
| 1 | g.94021385G>A | CA341283189 | ABCA4 | c.4873C>T (p.His1625Tyr) n.367C>T c.1249C>T (p.His417Tyr) | ClinVar dbSNP |
| 1 | g.94021385G>C | CA341283188 | ABCA4 | c.4873C>G (p.His1625Asp) n.367C>G c.1249C>G (p.His417Asp) | |
| 1 | g.94021385G= | CA1181408254 | ABCA4 | c.4873C= (p.His1625=) n.367C= c.1249C= (p.His417=) | |
| 1 | g.94021385G>T | CA341283187 | ABCA4 | c.4873C>A (p.His1625Asn) n.367C>A c.1249C>A (p.His417Asn) | |
| 1 | g.94021386C>A | CA341283190 | ABCA4 | c.4872G>T (p.Trp1624Cys) n.366G>T c.1248G>T (p.Trp416Cys) | |
| 1 | g.94021386C>G | CA341283191 | ABCA4 | c.4872G>C (p.Trp1624Cys) n.366G>C c.1248G>C (p.Trp416Cys) | |
| 1 | g.94021386C>T | CA341283192 | ABCA4 | c.4872G>A (p.Trp1624Ter) n.366G>A c.1248G>A (p.Trp416Ter) | ClinVar dbSNP COSMIC |
| 1 | g.94021387C>A | CA341283193 | ABCA4 | c.4871G>T (p.Trp1624Leu) n.365G>T c.1247G>T (p.Trp416Leu) | |
| 1 | g.94021387C>G | CA341283194 | ABCA4 | c.4871G>C (p.Trp1624Ser) n.365G>C c.1247G>C (p.Trp416Ser) | |
| 1 | g.94021387C>T | CA341283195 | ABCA4 | c.4871G>A (p.Trp1624Ter) n.365G>A c.1247G>A (p.Trp416Ter) | |
| 1 | g.94021388A>C | CA341283196 | ABCA4 | c.4870T>G (p.Trp1624Gly) n.364T>G c.1246T>G (p.Trp416Gly) | |
| 1 | g.94021388A>G | CA341283197 | ABCA4 | c.4870T>C (p.Trp1624Arg) n.364T>C c.1246T>C (p.Trp416Arg) | |
| 1 | g.94021388A>T | CA341283198 | ABCA4 | c.4870T>A (p.Trp1624Arg) n.364T>A c.1246T>A (p.Trp416Arg) | |
| 1 | g.94021388_94021389delinsCC | CA2580063560 | ABCA4 | c.4869_4870delinsGG (p.Trp1624Gly) n.363_364delinsGG c.1245_1246delinsGG (p.Trp416Gly) | ClinVar |
| 1 | g.94021389G>A | CA957435 | ABCA4 | c.4869C>T (p.Gly1623=) n.363C>T c.1245C>T (p.Gly415=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94021389G>C | CA418821756 | ABCA4 | c.4869C>G (p.Gly1623=) n.363C>G c.1245C>G (p.Gly415=) | |
| 1 | g.94021389G= | CA1181408257 | ABCA4 | c.4869C= (p.Gly1623=) n.363C= c.1245C= (p.Gly415=) | |
| 1 | g.94021389G>T | CA418821757 | ABCA4 | c.4869C>A (p.Gly1623=) n.363C>A c.1245C>A (p.Gly415=) | |
| 1 | g.94021390C>A | CA341283199 | ABCA4 | c.4868G>T (p.Gly1623Val) n.362G>T c.1244G>T (p.Gly415Val) | ClinVar dbSNP |
| 1 | g.94021390C= | CA1181408259 | ABCA4 | c.4868G= (p.Gly1623=) n.362G= c.1244G= (p.Gly415=) | |
| 1 | g.94021390C>G | CA341283200 | ABCA4 | c.4868G>C (p.Gly1623Ala) n.362G>C c.1244G>C (p.Gly415Ala) | |
| 1 | g.94021390C>T | CA341283201 | ABCA4 | c.4868G>A (p.Gly1623Asp) n.362G>A c.1244G>A (p.Gly415Asp) | gnomAD v4 |
| 1 | g.94021391C>A | CA341283203 | ABCA4 | c.4867G>T (p.Gly1623Cys) n.361G>T c.1243G>T (p.Gly415Cys) | |
| 1 | g.94021391C= | CA1140725962 | ABCA4 | c.4867G= (p.Gly1623=) n.361G= c.1243G= (p.Gly415=) | |
| 1 | g.94021391C>G | CA341283202 | ABCA4 | c.4867G>C (p.Gly1623Arg) n.361G>C c.1243G>C (p.Gly415Arg) | |
| 1 | g.94021391C>T | CA227246 | ABCA4 | c.4867G>A (p.Gly1623Ser) n.361G>A c.1243G>A (p.Gly415Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021392T>A | CA341283204 | ABCA4 | c.4866A>T (p.Lys1622Asn) n.360A>T c.1242A>T (p.Lys414Asn) | |
| 1 | g.94021392T>C | CA418821758 | ABCA4 | c.4866A>G (p.Lys1622=) n.360A>G c.1242A>G (p.Lys414=) | |
| 1 | g.94021392T>G | CA341283205 | ABCA4 | c.4866A>C (p.Lys1622Asn) n.360A>C c.1242A>C (p.Lys414Asn) | |
| 1 | g.94021393T>A | CA341283206 | ABCA4 | c.4865A>T (p.Lys1622Ile) n.359A>T c.1241A>T (p.Lys414Ile) | |
| 1 | g.94021393T>C | CA341283208 | ABCA4 | c.4865A>G (p.Lys1622Arg) n.359A>G c.1241A>G (p.Lys414Arg) | |
| 1 | g.94021393T>G | CA341283207 | ABCA4 | c.4865A>C (p.Lys1622Thr) n.359A>C c.1241A>C (p.Lys414Thr) | |
| 1 | g.94021394T>A | CA341283209 | ABCA4 | c.4864A>T (p.Lys1622Ter) n.358A>T c.1240A>T (p.Lys414Ter) | gnomAD v4 |
| 1 | g.94021394T>C | CA341283210 | ABCA4 | c.4864A>G (p.Lys1622Glu) n.358A>G c.1240A>G (p.Lys414Glu) | ClinVar dbSNP |
| 1 | g.94021394T>G | CA341283211 | ABCA4 | c.4864A>C (p.Lys1622Gln) n.358A>C c.1240A>C (p.Lys414Gln) | |
| 1 | g.94021394_94021399delinsAGGA | CA645372233 | ABCA4 | c.4859_4864delinsTCCT (p.Asn1620IlefsTer25) n.353_358delinsTCCT c.1235_1240delinsTCCT (p.Asn412IlefsTer25) | |
| 1 | g.94021395G>A | CA418821759 | ABCA4 | c.4863C>T (p.Asn1621=) n.357C>T c.1239C>T (p.Asn413=) | |
| 1 | g.94021395G>C | CA341283212 | ABCA4 | c.4863C>G (p.Asn1621Lys) n.357C>G c.1239C>G (p.Asn413Lys) | |
| 1 | g.94021395G>T | CA341283213 | ABCA4 | c.4863C>A (p.Asn1621Lys) n.357C>A c.1239C>A (p.Asn413Lys) | |
| 1 | g.94021396T>A | CA341283214 | ABCA4 | c.4862A>T (p.Asn1621Ile) n.356A>T c.1238A>T (p.Asn413Ile) | |
| 1 | g.94021396T>C | CA341283215 | ABCA4 | c.4862A>G (p.Asn1621Ser) n.356A>G c.1238A>G (p.Asn413Ser) | |
| 1 | g.94021396T>G | CA341283216 | ABCA4 | c.4862A>C (p.Asn1621Thr) n.356A>C c.1238A>C (p.Asn413Thr) | |
| 1 | g.94021397del | CA2646647346 | ABCA4 | c.4862del (p.Asn1621ThrfsTer?) n.356del c.1238del (p.Asn413ThrfsTer?) | gnomAD v4 |
| 1 | g.94021397T>A | CA957436 | ABCA4 | c.4861A>T (p.Asn1621Tyr) n.355A>T c.1237A>T (p.Asn413Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021397T>C | CA341283217 | ABCA4 | c.4861A>G (p.Asn1621Asp) n.355A>G c.1237A>G (p.Asn413Asp) | |
| 1 | g.94021397T>G | CA341283218 | ABCA4 | c.4861A>C (p.Asn1621His) n.355A>C c.1237A>C (p.Asn413His) | gnomAD v4 |
| 1 | g.94021397T= | CA1181408267 | ABCA4 | c.4861A= (p.Asn1621=) n.355A= c.1237A= (p.Asn413=) | |
| 1 | g.94021398A= | CA1181408269 | ABCA4 | c.4860T= (p.Asn1620=) n.354T= c.1236T= (p.Asn412=) | |
| 1 | g.94021398A>C | CA957437 | ABCA4 | c.4860T>G (p.Asn1620Lys) n.354T>G c.1236T>G (p.Asn412Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021398A>G | CA418821760 | ABCA4 | c.4860T>C (p.Asn1620=) n.354T>C c.1236T>C (p.Asn412=) | |
| 1 | g.94021398A>T | CA341283219 | ABCA4 | c.4860T>A (p.Asn1620Lys) n.354T>A c.1236T>A (p.Asn412Lys) | |
| 1 | g.94021399T>A | CA341283222 | ABCA4 | c.4859A>T (p.Asn1620Ile) n.353A>T c.1235A>T (p.Asn412Ile) | ClinVar dbSNP |
| 1 | g.94021399T>C | CA341283220 | ABCA4 | c.4859A>G (p.Asn1620Ser) n.353A>G c.1235A>G (p.Asn412Ser) | |
| 1 | g.94021399T>G | CA341283221 | ABCA4 | c.4859A>C (p.Asn1620Thr) n.353A>C c.1235A>C (p.Asn412Thr) | |
| 1 | g.94021399T= | CA1181408273 | ABCA4 | c.4859A= (p.Asn1620=) n.353A= c.1235A= (p.Asn412=) | |
| 1 | g.94021400del | CA2646647347 | ABCA4 | c.4859del (p.Asn1620IlefsTer?) n.353del c.1235del (p.Asn412IlefsTer?) | gnomAD v4 |
| 1 | g.94021400T>A | CA341283223 | ABCA4 | c.4858A>T (p.Asn1620Tyr) n.352A>T c.1234A>T (p.Asn412Tyr) | |
| 1 | g.94021400T>C | CA341283224 | ABCA4 | c.4858A>G (p.Asn1620Asp) n.352A>G c.1234A>G (p.Asn412Asp) | |
| 1 | g.94021400T>G | CA341283225 | ABCA4 | c.4858A>C (p.Asn1620His) n.352A>C c.1234A>C (p.Asn412His) | ClinVar |
| 1 | g.94021401A>C | CA341283226 | ABCA4 | c.4857T>G (p.Phe1619Leu) n.351T>G c.1233T>G (p.Phe411Leu) | |
| 1 | g.94021401A>G | CA418821761 | ABCA4 | c.4857T>C (p.Phe1619=) n.351T>C c.1233T>C (p.Phe411=) | |
| 1 | g.94021401A>T | CA341283227 | ABCA4 | c.4857T>A (p.Phe1619Leu) n.351T>A c.1233T>A (p.Phe411Leu) | |
| 1 | g.94021402A>C | CA341283228 | ABCA4 | c.4856T>G (p.Phe1619Cys) n.350T>G c.1232T>G (p.Phe411Cys) | |
| 1 | g.94021402A>G | CA341283229 | ABCA4 | c.4856T>C (p.Phe1619Ser) n.350T>C c.1232T>C (p.Phe411Ser) | |
| 1 | g.94021402A>T | CA341283230 | ABCA4 | c.4856T>A (p.Phe1619Tyr) n.350T>A c.1232T>A (p.Phe411Tyr) | |
| 1 | g.94021403A= | CA1181408276 | ABCA4 | c.4855T= (p.Phe1619=) n.349T= c.1231T= (p.Phe411=) | |
| 1 | g.94021403A>C | CA341283231 | ABCA4 | c.4855T>G (p.Phe1619Val) n.349T>G c.1231T>G (p.Phe411Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021403A>G | CA341283232 | ABCA4 | c.4855T>C (p.Phe1619Leu) n.349T>C c.1231T>C (p.Phe411Leu) | COSMIC |
| 1 | g.94021403A>T | CA341283233 | ABCA4 | c.4855T>A (p.Phe1619Ile) n.349T>A c.1231T>A (p.Phe411Ile) | |
| 1 | g.94021404C>A | CA341283234 | ABCA4 | c.4854G>T (p.Trp1618Cys) n.348G>T c.1230G>T (p.Trp410Cys) | ClinVar |
| 1 | g.94021404C= | CA1140725968 | ABCA4 | c.4854G= (p.Trp1618=) n.348G= c.1230G= (p.Trp410=) | |
| 1 | g.94021404C>G | CA957438 | ABCA4 | c.4854G>C (p.Trp1618Cys) n.348G>C c.1230G>C (p.Trp410Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021404C>T | CA227244 | ABCA4 | c.4854G>A (p.Trp1618Ter) n.348G>A c.1230G>A (p.Trp410Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.94021405C>A | CA341283235 | ABCA4 | c.4853G>T (p.Trp1618Leu) n.347G>T c.1229G>T (p.Trp410Leu) | |
| 1 | g.94021405C>G | CA341283236 | ABCA4 | c.4853G>C (p.Trp1618Ser) n.347G>C c.1229G>C (p.Trp410Ser) | |
| 1 | g.94021405C>T | CA341283237 | ABCA4 | c.4853G>A (p.Trp1618Ter) n.347G>A c.1229G>A (p.Trp410Ter) | |
| 1 | g.94021406A= | CA1181408286 | ABCA4 | c.4852T= (p.Trp1618=) n.346T= c.1228T= (p.Trp410=) | |
| 1 | g.94021406A>C | CA341283238 | ABCA4 | c.4852T>G (p.Trp1618Gly) n.346T>G c.1228T>G (p.Trp410Gly) | |
| 1 | g.94021406A>G | CA341283239 | ABCA4 | c.4852T>C (p.Trp1618Arg) n.346T>C c.1228T>C (p.Trp410Arg) | ClinVar dbSNP |
| 1 | g.94021406A>T | CA235748 | ABCA4 | c.4852T>A (p.Trp1618Arg) n.346T>A c.1228T>A (p.Trp410Arg) | ClinVar dbSNP |
| 1 | g.94021406dup | CA2646647348 | ABCA4 | c.4852dup (p.Trp1618LeufsTer3) n.346dup c.1228dup (p.Trp410LeufsTer3) | gnomAD v4 |
| 1 | g.94021407C>A | CA418821764 | ABCA4 | c.4851G>T (p.Val1617=) n.345G>T c.1227G>T (p.Val409=) | |
| 1 | g.94021407C= | CA1181408290 | ABCA4 | c.4851G= (p.Val1617=) n.345G= c.1227G= (p.Val409=) | |
| 1 | g.94021407C>G | CA418821763 | ABCA4 | c.4851G>C (p.Val1617=) n.345G>C c.1227G>C (p.Val409=) | |
| 1 | g.94021407C>T | CA418821762 | ABCA4 | c.4851G>A (p.Val1617=) n.345G>A c.1227G>A (p.Val409=) | dbSNP |
| 1 | g.94021408A= | CA1181408293 | ABCA4 | c.4850T= (p.Val1617=) n.344T= c.1226T= (p.Val409=) | |
| 1 | g.94021408A>C | CA341283240 | ABCA4 | c.4850T>G (p.Val1617Gly) n.344T>G c.1226T>G (p.Val409Gly) | |
| 1 | g.94021408A>G | CA341283241 | ABCA4 | c.4850T>C (p.Val1617Ala) n.344T>C c.1226T>C (p.Val409Ala) | dbSNP gnomAD v4 |
| 1 | g.94021408A>T | CA341283242 | ABCA4 | c.4850T>A (p.Val1617Glu) n.344T>A c.1226T>A (p.Val409Glu) | |
| 1 | g.94021409C>A | CA341283243 | ABCA4 | c.4849G>T (p.Val1617Leu) n.343G>T c.1225G>T (p.Val409Leu) | |
| 1 | g.94021409C= | CA1181408300 | ABCA4 | c.4849G= (p.Val1617=) n.343G= c.1225G= (p.Val409=) | |
| 1 | g.94021409C>G | CA341283244 | ABCA4 | c.4849G>C (p.Val1617Leu) n.343G>C c.1225G>C (p.Val409Leu) | gnomAD v4 |
| 1 | g.94021409C>T | CA341283245 | ABCA4 | c.4849G>A (p.Val1617Met) n.343G>A c.1225G>A (p.Val409Met) | ClinVar dbSNP |
| 1 | g.94021410del | CA2586964144 | ABCA4 | c.4849del n.343del c.1225del | |
| 1 | g.94021410C>A | CA341283246 | ABCA4 | c.4849-1G>T (n.4849-1G>T) n.343-1G>T c.1225-1G>T (n.1225-1G>T) | |
| 1 | g.94021410C= | CA1140725974 | ABCA4 | c.4849-1G= (n.4849-1G=) n.343-1G= c.1225-1G= (n.1225-1G=) | |
| 1 | g.94021410C>G | CA227243 | ABCA4 | c.4849-1G>C (n.4849-1G>C) n.343-1G>C c.1225-1G>C (n.1225-1G>C) | ClinVar dbSNP |
| 1 | g.94021410C>T | CA957439 | ABCA4 | c.4849-1G>A (n.4849-1G>A) n.343-1G>A c.1225-1G>A (n.1225-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021411T>A | CA341283247 | ABCA4 | c.4849-2A>T (n.4849-2A>T) n.343-2A>T c.1225-2A>T (n.1225-2A>T) | |
| 1 | g.94021411T>C | CA341283248 | ABCA4 | c.4849-2A>G (n.4849-2A>G) n.343-2A>G c.1225-2A>G (n.1225-2A>G) | ClinVar dbSNP |
| 1 | g.94021411T>G | CA341283249 | ABCA4 | c.4849-2A>C (n.4849-2A>C) n.343-2A>C c.1225-2A>C (n.1225-2A>C) | |
| 1 | g.94021411T= | CA1181408314 | ABCA4 | c.4849-2A= (n.4849-2A=) n.343-2A= c.1225-2A= (n.1225-2A=) | |
| 1 | g.94021413G>A | CA957440 | ABCA4 | c.4849-4C>T (n.4849-4C>T) n.343-4C>T c.1225-4C>T (n.1225-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021413G>C | CA2646647349 | ABCA4 | c.4849-4C>G (n.4849-4C>G) n.343-4C>G c.1225-4C>G (n.1225-4C>G) | gnomAD v4 |
| 1 | g.94021413G= | CA1181408318 | ABCA4 | c.4849-4C= (n.4849-4C=) n.343-4C= c.1225-4C= (n.1225-4C=) | |
| 1 | g.94021415G>A | CA957441 | ABCA4 | c.4849-6C>T (n.4849-6C>T) n.343-6C>T c.1225-6C>T (n.1225-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021415G= | CA1181408322 | ABCA4 | c.4849-6C= (n.4849-6C=) n.343-6C= c.1225-6C= (n.1225-6C=) | |
| 1 | g.94021415G>T | CA1181408323 | ABCA4 | c.4849-6C>A (n.4849-6C>A) n.343-6C>A c.1225-6C>A (n.1225-6C>A) | dbSNP |