Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68431319_68431340delCA2580063208RPE65c.1282_1303del (p.Gly428MetfsTer5)
c.1006_1027del (p.Gly336MetfsTer5)
 ClinVar
1g.68431318C>ACA902210RPE65c.1302G>T (p.Ala434=)
c.1026G>T (p.Ala342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431318C=CA1140762640RPE65c.1302G= (p.Ala434=)
c.1026G= (p.Ala342=)
1g.68431318C>GCA226502RPE65c.1302G>C (p.Ala434=)
c.1026G>C (p.Ala342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431318C>TCA902209RPE65c.1302G>A (p.Ala434=)
c.1026G>A (p.Ala342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431319G>ACA226501RPE65c.1301C>T (p.Ala434Val)
c.1025C>T (p.Ala342Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431319G>CCA340742485RPE65c.1301C>G (p.Ala434Gly)
c.1025C>G (p.Ala342Gly)
1g.68431319G=CA1140529781RPE65c.1301C= (p.Ala434=)
c.1025C= (p.Ala342=)
1g.68431319G>TCA340742486RPE65c.1301C>A (p.Ala434Glu)
c.1025C>A (p.Ala342Glu)
 ClinVar dbSNP gnomAD v4
1g.68431320C>ACA340742489RPE65c.1300G>T (p.Ala434Ser)
c.1024G>T (p.Ala342Ser)
1g.68431320C>GCA340742491RPE65c.1300G>C (p.Ala434Pro)
c.1024G>C (p.Ala342Pro)
 dbSNP
1g.68431320C>TCA340742492RPE65c.1300G>A (p.Ala434Thr)
c.1024G>A (p.Ala342Thr)
1g.68431321delCA2646150140RPE65c.1299del (p.Tyr433Ter)
c.1023del (p.Tyr341Ter)
 gnomAD v4
1g.68431321A=CA1173557996RPE65c.1299T= (p.Tyr433=)
c.1023T= (p.Tyr341=)
1g.68431321A>CCA340742498RPE65c.1299T>G (p.Tyr433Ter)
c.1023T>G (p.Tyr341Ter)
1g.68431321A>GCA902211RPE65c.1299T>C (p.Tyr433=)
c.1023T>C (p.Tyr341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431321A>TCA340742495RPE65c.1299T>A (p.Tyr433Ter)
c.1023T>A (p.Tyr341Ter)
 ClinVar
1g.68431322T>ACA340742500RPE65c.1298A>T (p.Tyr433Phe)
c.1022A>T (p.Tyr341Phe)
1g.68431322T>CCA902212RPE65c.1298A>G (p.Tyr433Cys)
c.1022A>G (p.Tyr341Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431322T>GCA340742502RPE65c.1298A>C (p.Tyr433Ser)
c.1022A>C (p.Tyr341Ser)
1g.68431322T=CA1142163535RPE65c.1298A= (p.Tyr433=)
c.1022A= (p.Tyr341=)
1g.68431323A=CA1173557997RPE65c.1297T= (p.Tyr433=)
c.1021T= (p.Tyr341=)
1g.68431323A>CCA340742505RPE65c.1297T>G (p.Tyr433Asp)
c.1021T>G (p.Tyr341Asp)
1g.68431323A>GCA902214RPE65c.1297T>C (p.Tyr433His)
c.1021T>C (p.Tyr341His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431323A>TCA902213RPE65c.1297T>A (p.Tyr433Asn)
c.1021T>A (p.Tyr341Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431324T>ACA418277753RPE65c.1296A>T (p.Thr432=)
c.1020A>T (p.Thr340=)
1g.68431324T>CCA418277754RPE65c.1296A>G (p.Thr432=)
c.1020A>G (p.Thr340=)
1g.68431324T>GCA418277757RPE65c.1296A>C (p.Thr432=)
c.1020A>C (p.Thr340=)
1g.68431325G>ACA340742509RPE65c.1295C>T (p.Thr432Ile)
c.1019C>T (p.Thr340Ile)
 dbSNP gnomAD v4
1g.68431325G>CCA340742512RPE65c.1295C>G (p.Thr432Arg)
c.1019C>G (p.Thr340Arg)
1g.68431325G=CA1173557998RPE65c.1295C= (p.Thr432=)
c.1019C= (p.Thr340=)
1g.68431325G>TCA340742511RPE65c.1295C>A (p.Thr432Lys)
c.1019C>A (p.Thr340Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.68431326T>ACA340742515RPE65c.1294A>T (p.Thr432Ser)
c.1018A>T (p.Thr340Ser)
 ClinVar dbSNP gnomAD v4
1g.68431326T>CCA340742517RPE65c.1294A>G (p.Thr432Ala)
c.1018A>G (p.Thr340Ala)
1g.68431326T>GCA340742518RPE65c.1294A>C (p.Thr432Pro)
c.1018A>C (p.Thr340Pro)
 ClinVar dbSNP
1g.68431326T=CA1173557999RPE65c.1294A= (p.Thr432=)
c.1018A= (p.Thr340=)
1g.68431327G>ACA418277761RPE65c.1293C>T (p.Tyr431=)
c.1017C>T (p.Tyr339=)
1g.68431327G>CCA340742520RPE65c.1293C>G (p.Tyr431Ter)
c.1017C>G (p.Tyr339Ter)
1g.68431327G=CA1173558000RPE65c.1293C= (p.Tyr431=)
c.1017C= (p.Tyr339=)
1g.68431327G>TCA340742522RPE65c.1293C>A (p.Tyr431Ter)
c.1017C>A (p.Tyr339Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68431328T>ACA340742524RPE65c.1292A>T (p.Tyr431Phe)
c.1016A>T (p.Tyr339Phe)
1g.68431328T>CCA226500RPE65c.1292A>G (p.Tyr431Cys)
c.1016A>G (p.Tyr339Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431328T>GCA340742527RPE65c.1292A>C (p.Tyr431Ser)
c.1016A>C (p.Tyr339Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.68431328T=CA1140762641RPE65c.1292A= (p.Tyr431=)
c.1016A= (p.Tyr339=)
1g.68431329A=CA1173558001RPE65c.1291T= (p.Tyr431=)
c.1015T= (p.Tyr339=)
1g.68431329A>CCA340742529RPE65c.1291T>G (p.Tyr431Asp)
c.1015T>G (p.Tyr339Asp)
1g.68431329A>GCA23564019RPE65c.1291T>C (p.Tyr431His)
c.1015T>C (p.Tyr339His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431329A>TCA340742532RPE65c.1291T>A (p.Tyr431Asn)
c.1015T>A (p.Tyr339Asn)
1g.68431330A=CA1173558002RPE65c.1290T= (p.Pro430=)
c.1014T= (p.Pro338=)
1g.68431330A>CCA418277769RPE65c.1290T>G (p.Pro430=)
c.1014T>G (p.Pro338=)
1g.68431330A>GCA23564021RPE65c.1290T>C (p.Pro430=)
c.1014T>C (p.Pro338=)
 dbSNP
1g.68431330A>TCA418277771RPE65c.1290T>A (p.Pro430=)
c.1014T>A (p.Pro338=)
1g.68431331G>ACA340742535RPE65c.1289C>T (p.Pro430Leu)
c.1013C>T (p.Pro338Leu)
1g.68431331G>CCA340742537RPE65c.1289C>G (p.Pro430Arg)
c.1013C>G (p.Pro338Arg)
 COSMIC
1g.68431331G=CA1173558003RPE65c.1289C= (p.Pro430=)
c.1013C= (p.Pro338=)
1g.68431331G>TCA902215RPE65c.1289C>A (p.Pro430His)
c.1013C>A (p.Pro338His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68431332G>ACA902216RPE65c.1288C>T (p.Pro430Ser)
c.1012C>T (p.Pro338Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431332G>CCA340742540RPE65c.1288C>G (p.Pro430Ala)
c.1012C>G (p.Pro338Ala)
1g.68431332G=CA1173558004RPE65c.1288C= (p.Pro430=)
c.1012C= (p.Pro338=)
1g.68431332G>TCA340742541RPE65c.1288C>A (p.Pro430Thr)
c.1012C>A (p.Pro338Thr)
 gnomAD v4
1g.68431333T>ACA340742543RPE65c.1287A>T (p.Lys429Asn)
c.1011A>T (p.Lys337Asn)
1g.68431333T>CCA418277778RPE65c.1287A>G (p.Lys429=)
c.1011A>G (p.Lys337=)
1g.68431333T>GCA340742545RPE65c.1287A>C (p.Lys429Asn)
c.1011A>C (p.Lys337Asn)
1g.68431334T>ACA340742547RPE65c.1286A>T (p.Lys429Ile)
c.1010A>T (p.Lys337Ile)
1g.68431334T>CCA340742548RPE65c.1286A>G (p.Lys429Arg)
c.1010A>G (p.Lys337Arg)
1g.68431334T>GCA340742550RPE65c.1286A>C (p.Lys429Thr)
c.1010A>C (p.Lys337Thr)
1g.68431335T>ACA340742552RPE65c.1285A>T (p.Lys429Ter)
c.1009A>T (p.Lys337Ter)
1g.68431335T>CCA340742553RPE65c.1285A>G (p.Lys429Glu)
c.1009A>G (p.Lys337Glu)
1g.68431335T>GCA340742555RPE65c.1285A>C (p.Lys429Gln)
c.1009A>C (p.Lys337Gln)
1g.68431336C>ACA418277784RPE65c.1284G>T (p.Gly428=)
c.1008G>T (p.Gly336=)
 gnomAD v4
1g.68431336C>GCA418277786RPE65c.1284G>C (p.Gly428=)
c.1008G>C (p.Gly336=)
1g.68431336C>TCA418277787RPE65c.1284G>A (p.Gly428=)
c.1008G>A (p.Gly336=)
1g.68431337C>ACA340742560RPE65c.1283G>T (p.Gly428Val)
c.1007G>T (p.Gly336Val)
1g.68431337C>GCA340742558RPE65c.1283G>C (p.Gly428Ala)
c.1007G>C (p.Gly336Ala)
1g.68431337C>TCA340742557RPE65c.1283G>A (p.Gly428Glu)
c.1007G>A (p.Gly336Glu)
1g.68431338C>ACA340742562RPE65c.1282G>T (p.Gly428Trp)
c.1006G>T (p.Gly336Trp)
 ClinVar dbSNP
1g.68431338C>GCA340742563RPE65c.1282G>C (p.Gly428Arg)
c.1006G>C (p.Gly336Arg)
1g.68431338C>TCA340742565RPE65c.1282G>A (p.Gly428Arg)
c.1006G>A (p.Gly336Arg)
1g.68431339A=CA1144145618RPE65c.1281T= (p.Cys427=)
c.1005T= (p.Cys335=)
1g.68431339A>CCA340742566RPE65c.1281T>G (p.Cys427Trp)
c.1005T>G (p.Cys335Trp)
 gnomAD v4
1g.68431339A>GCA902217RPE65c.1281T>C (p.Cys427=)
c.1005T>C (p.Cys335=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431339A>TCA340742568RPE65c.1281T>A (p.Cys427Ter)
c.1005T>A (p.Cys335Ter)
1g.68431340C>ACA340742571RPE65c.1280G>T (p.Cys427Phe)
c.1004G>T (p.Cys335Phe)
1g.68431340C>GCA340742573RPE65c.1280G>C (p.Cys427Ser)
c.1004G>C (p.Cys335Ser)
1g.68431340C>TCA340742574RPE65c.1280G>A (p.Cys427Tyr)
c.1004G>A (p.Cys335Tyr)
1g.68431341A=CA1173558005RPE65c.1279T= (p.Cys427=)
c.1003T= (p.Cys335=)
1g.68431341A>CCA340742576RPE65c.1279T>G (p.Cys427Gly)
c.1003T>G (p.Cys335Gly)
 dbSNP
1g.68431341A>GCA340742578RPE65c.1279T>C (p.Cys427Arg)
c.1003T>C (p.Cys335Arg)
 dbSNP gnomAD v4
1g.68431341A>TCA340742579RPE65c.1279T>A (p.Cys427Ser)
c.1003T>A (p.Cys335Ser)
1g.68431342A>CCA340742581RPE65c.1278T>G (p.Tyr426Ter)
c.1002T>G (p.Tyr334Ter)
1g.68431342A>GCA418277795RPE65c.1278T>C (p.Tyr426=)
c.1002T>C (p.Tyr334=)
 ClinVar gnomAD v4
1g.68431342A>TCA340742582RPE65c.1278T>A (p.Tyr426Ter)
c.1002T>A (p.Tyr334Ter)
 gnomAD v4
1g.68431343T>ACA340742585RPE65c.1277A>T (p.Tyr426Phe)
c.1001A>T (p.Tyr334Phe)
1g.68431343T>CCA340742588RPE65c.1277A>G (p.Tyr426Cys)
c.1001A>G (p.Tyr334Cys)
1g.68431343T>GCA340742587RPE65c.1277A>C (p.Tyr426Ser)
c.1001A>C (p.Tyr334Ser)
1g.68431344A>CCA340742591RPE65c.1276T>G (p.Tyr426Asp)
c.1000T>G (p.Tyr334Asp)
1g.68431344A>GCA340742592RPE65c.1276T>C (p.Tyr426His)
c.1000T>C (p.Tyr334His)
1g.68431344A>TCA340742593RPE65c.1276T>A (p.Tyr426Asn)
c.1000T>A (p.Tyr334Asn)
1g.68431345C>ACA340742594RPE65c.1275G>T (p.Lys425Asn)
c.999G>T (p.Lys333Asn)
1g.68431345C>GCA340742596RPE65c.1275G>C (p.Lys425Asn)
c.999G>C (p.Lys333Asn)
1g.68431345C>TCA418277802RPE65c.1275G>A (p.Lys425=)
c.999G>A (p.Lys333=)
1g.68431346T>ACA340742598RPE65c.1274A>T (p.Lys425Met)
c.998A>T (p.Lys333Met)
 dbSNP gnomAD v2
1g.68431346T>CCA902218RPE65c.1274A>G (p.Lys425Arg)
c.998A>G (p.Lys333Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431346T>GCA340742599RPE65c.1274A>C (p.Lys425Thr)
c.998A>C (p.Lys333Thr)
1g.68431346T=CA1173558006RPE65c.1274A= (p.Lys425=)
c.998A= (p.Lys333=)
1g.68431347T>ACA340742601RPE65c.1273A>T (p.Lys425Ter)
c.997A>T (p.Lys333Ter)
1g.68431347T>CCA340742603RPE65c.1273A>G (p.Lys425Glu)
c.997A>G (p.Lys333Glu)
1g.68431347T>GCA340742605RPE65c.1273A>C (p.Lys425Gln)
c.997A>C (p.Lys333Gln)
1g.68431348C>ACA340742609RPE65c.1272G>T (p.Gln424His)
c.996G>T (p.Gln332His)
1g.68431348C>GCA340742607RPE65c.1272G>C (p.Gln424His)
c.996G>C (p.Gln332His)
1g.68431348C>TCA418277810RPE65c.1272G>A (p.Gln424=)
c.996G>A (p.Gln332=)
1g.68431349T>ACA340742611RPE65c.1271A>T (p.Gln424Leu)
c.995A>T (p.Gln332Leu)
1g.68431349T>CCA340742612RPE65c.1271A>G (p.Gln424Arg)
c.995A>G (p.Gln332Arg)
 dbSNP gnomAD v4
1g.68431349T>GCA902219RPE65c.1271A>C (p.Gln424Pro)
c.995A>C (p.Gln332Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431349T=CA1173558007RPE65c.1271A= (p.Gln424=)
c.995A= (p.Gln332=)
1g.68431349_68431350delinsTGCA1173558008RPE65c.1270_1271delinsCA (p.Gln424=)
c.994_995delinsCA (p.Gln332=)
1g.68431350G>ACA340742614RPE65c.1270C>T (p.Gln424Ter)
c.994C>T (p.Gln332Ter)
 COSMIC
1g.68431350G>CCA340742615RPE65c.1270C>G (p.Gln424Glu)
c.994C>G (p.Gln332Glu)
 gnomAD v4
1g.68431350G>TCA340742617RPE65c.1270C>A (p.Gln424Lys)
c.994C>A (p.Gln332Lys)
1g.68431351delCA1173558009RPE65c.1270del (p.Gln424ArgfsTer16)
c.994del (p.Gln332ArgfsTer16)
1g.68431351G>ACA418277816RPE65c.1269C>T (p.Tyr423=)
c.993C>T (p.Tyr331=)
 ClinVar dbSNP
1g.68431351G>CCA340742619RPE65c.1269C>G (p.Tyr423Ter)
c.993C>G (p.Tyr331Ter)
1g.68431351G=CA1173558010RPE65c.1269C= (p.Tyr423=)
c.993C= (p.Tyr331=)
1g.68431351G>TCA340742621RPE65c.1269C>A (p.Tyr423Ter)
c.993C>A (p.Tyr331Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431352T>ACA340742623RPE65c.1268A>T (p.Tyr423Phe)
c.992A>T (p.Tyr331Phe)
1g.68431352T>CCA340742624RPE65c.1268A>G (p.Tyr423Cys)
c.992A>G (p.Tyr331Cys)
 gnomAD v4
1g.68431352T>GCA340742626RPE65c.1268A>C (p.Tyr423Ser)
c.992A>C (p.Tyr331Ser)
1g.68431353A>CCA340742630RPE65c.1267T>G (p.Tyr423Asp)
c.991T>G (p.Tyr331Asp)
1g.68431353A>GCA340742632RPE65c.1267T>C (p.Tyr423His)
c.991T>C (p.Tyr331His)
1g.68431353A>TCA340742628RPE65c.1267T>A (p.Tyr423Asn)
c.991T>A (p.Tyr331Asn)
1g.68431354A>CCA340742633RPE65c.1266T>G (p.Asn422Lys)
c.990T>G (p.Asn330Lys)
1g.68431354A>GCA418277824RPE65c.1266T>C (p.Asn422=)
c.990T>C (p.Asn330=)
1g.68431354A>TCA340742635RPE65c.1266T>A (p.Asn422Lys)
c.990T>A (p.Asn330Lys)
1g.68431355T>ACA340742637RPE65c.1265A>T (p.Asn422Ile)
c.989A>T (p.Asn330Ile)
1g.68431355T>CCA902220RPE65c.1265A>G (p.Asn422Ser)
c.989A>G (p.Asn330Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431355T>GCA340742639RPE65c.1265A>C (p.Asn422Thr)
c.989A>C (p.Asn330Thr)
1g.68431355T=CA1173558011RPE65c.1265A= (p.Asn422=)
c.989A= (p.Asn330=)
1g.68431356T>ACA340742640RPE65c.1264A>T (p.Asn422Tyr)
c.988A>T (p.Asn330Tyr)
1g.68431356T>CCA340742641RPE65c.1264A>G (p.Asn422Asp)
c.988A>G (p.Asn330Asp)
1g.68431356T>GCA340742643RPE65c.1264A>C (p.Asn422His)
c.988A>C (p.Asn330His)
 gnomAD v4
1g.68431357G>ACA418277830RPE65c.1263C>T (p.Ile421=)
c.987C>T (p.Ile329=)
1g.68431357G>CCA340742645RPE65c.1263C>G (p.Ile421Met)
c.987C>G (p.Ile329Met)
1g.68431357G>TCA418277833RPE65c.1263C>A (p.Ile421=)
c.987C>A (p.Ile329=)
1g.68431358A>CCA340742647RPE65c.1262T>G (p.Ile421Ser)
c.986T>G (p.Ile329Ser)
1g.68431358A>GCA340742648RPE65c.1262T>C (p.Ile421Thr)
c.986T>C (p.Ile329Thr)
1g.68431358A>TCA340742650RPE65c.1262T>A (p.Ile421Asn)
c.986T>A (p.Ile329Asn)
1g.68431359T>ACA340742654RPE65c.1261A>T (p.Ile421Phe)
c.985A>T (p.Ile329Phe)
1g.68431359T>CCA340742655RPE65c.1261A>G (p.Ile421Val)
c.985A>G (p.Ile329Val)
1g.68431359T>GCA340742652RPE65c.1261A>C (p.Ile421Leu)
c.985A>C (p.Ile329Leu)
1g.68431360T>ACA340742657RPE65c.1260A>T (p.Gln420His)
c.984A>T (p.Gln328His)
1g.68431360T>CCA418277839RPE65c.1260A>G (p.Gln420=)
c.984A>G (p.Gln328=)
1g.68431360T>GCA340742658RPE65c.1260A>C (p.Gln420His)
c.984A>C (p.Gln328His)
 dbSNP
1g.68431360T=CA1173558012RPE65c.1260A= (p.Gln420=)
c.984A= (p.Gln328=)
1g.68431361T>ACA902221RPE65c.1259A>T (p.Gln420Leu)
c.983A>T (p.Gln328Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431361T>CCA340742659RPE65c.1259A>G (p.Gln420Arg)
c.983A>G (p.Gln328Arg)
1g.68431361T>GCA340742660RPE65c.1259A>C (p.Gln420Pro)
c.983A>C (p.Gln328Pro)
1g.68431361T=CA1173558013RPE65c.1259A= (p.Gln420=)
c.983A= (p.Gln328=)
1g.68431362G>ACA340742666RPE65c.1258C>T (p.Gln420Ter)
c.982C>T (p.Gln328Ter)
1g.68431362G>CCA340742661RPE65c.1258C>G (p.Gln420Glu)
c.982C>G (p.Gln328Glu)
1g.68431362G>TCA340742664RPE65c.1258C>A (p.Gln420Lys)
c.982C>A (p.Gln328Lys)
1g.68431363A>CCA418278131RPE65c.1257T>G (p.Pro419=)
c.981T>G (p.Pro327=)
1g.68431363A>GCA418278132RPE65c.1257T>C (p.Pro419=)
c.981T>C (p.Pro327=)
1g.68431363A>TCA418278133RPE65c.1257T>A (p.Pro419=)
c.981T>A (p.Pro327=)
1g.68431364G>ACA340742668RPE65c.1256C>T (p.Pro419Leu)
c.980C>T (p.Pro327Leu)
1g.68431364G>CCA340742669RPE65c.1256C>G (p.Pro419Arg)
c.980C>G (p.Pro327Arg)
1g.68431364G>TCA340742670RPE65c.1256C>A (p.Pro419His)
c.980C>A (p.Pro327His)
1g.68431365G>ACA340742672RPE65c.1255C>T (p.Pro419Ser)
c.979C>T (p.Pro327Ser)
1g.68431365G>CCA340742674RPE65c.1255C>G (p.Pro419Ala)
c.979C>G (p.Pro327Ala)
1g.68431365G>TCA340742675RPE65c.1255C>A (p.Pro419Thr)
c.979C>A (p.Pro327Thr)
1g.68431366A=CA1173558014RPE65c.1254T= (p.Phe418=)
c.978T= (p.Phe326=)
1g.68431366A>CCA340742677RPE65c.1254T>G (p.Phe418Leu)
c.978T>G (p.Phe326Leu)
1g.68431366A>GCA418278140RPE65c.1254T>C (p.Phe418=)
c.978T>C (p.Phe326=)
 ClinVar dbSNP
1g.68431366A>TCA902222RPE65c.1254T>A (p.Phe418Leu)
c.978T>A (p.Phe326Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431367A>CCA340742680RPE65c.1253T>G (p.Phe418Cys)
c.977T>G (p.Phe326Cys)
 gnomAD v4
1g.68431367A>GCA340742684RPE65c.1253T>C (p.Phe418Ser)
c.977T>C (p.Phe326Ser)
1g.68431367A>TCA340742683RPE65c.1253T>A (p.Phe418Tyr)
c.977T>A (p.Phe326Tyr)
 ClinVar
1g.68431368A>CCA340742687RPE65c.1252T>G (p.Phe418Val)
c.976T>G (p.Phe326Val)
1g.68431368A>GCA340742690RPE65c.1252T>C (p.Phe418Leu)
c.976T>C (p.Phe326Leu)
1g.68431368A>TCA340742689RPE65c.1252T>A (p.Phe418Ile)
c.976T>A (p.Phe326Ile)
1g.68431369C>ACA340742692RPE65c.1251G>T (p.Glu417Asp)
c.975G>T (p.Glu325Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.68431369C=CA1173558015RPE65c.1251G= (p.Glu417=)
c.975G= (p.Glu325=)
1g.68431369C>GCA340742695RPE65c.1251G>C (p.Glu417Asp)
c.975G>C (p.Glu325Asp)
 dbSNP gnomAD v4
1g.68431369C>TCA418278150RPE65c.1251G>A (p.Glu417=)
c.975G>A (p.Glu325=)
 ClinVar dbSNP gnomAD v4
1g.68431370T>ACA340742699RPE65c.1250A>T (p.Glu417Val)
c.974A>T (p.Glu325Val)
 gnomAD v4
1g.68431370T>CCA340742706RPE65c.1250A>G (p.Glu417Gly)
c.974A>G (p.Glu325Gly)
 ClinVar gnomAD v4
1g.68431370T>GCA340742707RPE65c.1250A>C (p.Glu417Ala)
c.974A>C (p.Glu325Ala)
1g.68431371C>ACA340742709RPE65c.1249G>T (p.Glu417Ter)
c.973G>T (p.Glu325Ter)
1g.68431371C=CA1140762643RPE65c.1249G= (p.Glu417=)
c.973G= (p.Glu325=)
1g.68431371C>GCA226499RPE65c.1249G>C (p.Glu417Gln)
c.973G>C (p.Glu325Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431371C>TCA340742711RPE65c.1249G>A (p.Glu417Lys)
c.973G>A (p.Glu325Lys)
1g.68431372A=CA1173558016RPE65c.1248T= (p.Phe416=)
c.972T= (p.Phe324=)
1g.68431372A>CCA340742714RPE65c.1248T>G (p.Phe416Leu)
c.972T>G (p.Phe324Leu)
1g.68431372A>GCA902223RPE65c.1248T>C (p.Phe416=)
c.972T>C (p.Phe324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431372A>TCA340742716RPE65c.1248T>A (p.Phe416Leu)
c.972T>A (p.Phe324Leu)
1g.68431373A=CA1144645106RPE65c.1247T= (p.Phe416=)
c.971T= (p.Phe324=)
1g.68431373A>CCA340742721RPE65c.1247T>G (p.Phe416Cys)
c.971T>G (p.Phe324Cys)
1g.68431373A>GCA23564084RPE65c.1247T>C (p.Phe416Ser)
c.971T>C (p.Phe324Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.68431373A>TCA340742718RPE65c.1247T>A (p.Phe416Tyr)
c.971T>A (p.Phe324Tyr)
1g.68431374A>CCA340742726RPE65c.1246T>G (p.Phe416Val)
c.970T>G (p.Phe324Val)
1g.68431374A>GCA340742728RPE65c.1246T>C (p.Phe416Leu)
c.970T>C (p.Phe324Leu)
 gnomAD v4
1g.68431374A>TCA340742729RPE65c.1246T>A (p.Phe416Ile)
c.970T>A (p.Phe324Ile)
1g.68431375T>ACA418278167RPE65c.1245A>T (p.Ala415=)
c.969A>T (p.Ala323=)
1g.68431375T>CCA418278169RPE65c.1245A>G (p.Ala415=)
c.969A>G (p.Ala323=)
 ClinVar gnomAD v4
1g.68431375T>GCA418278170RPE65c.1245A>C (p.Ala415=)
c.969A>C (p.Ala323=)
1g.68431376G>ACA16617183RPE65c.1244C>T (p.Ala415Val)
c.968C>T (p.Ala323Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431376G>CCA340742730RPE65c.1244C>G (p.Ala415Gly)
c.968C>G (p.Ala323Gly)
1g.68431376G=CA1173558017RPE65c.1244C= (p.Ala415=)
c.968C= (p.Ala323=)
1g.68431376G>TCA340742731RPE65c.1244C>A (p.Ala415Glu)
c.968C>A (p.Ala323Glu)
1g.68431377C>ACA340742732RPE65c.1244-1G>T (n.1244-1G>T)
c.968-1G>T (n.968-1G>T)
1g.68431377C>GCA340742733RPE65c.1244-1G>C (n.1244-1G>C)
c.968-1G>C (n.968-1G>C)
1g.68431377C>TCA340742734RPE65c.1244-1G>A (n.1244-1G>A)
c.968-1G>A (n.968-1G>A)
 gnomAD v4
1g.68431378T>ACA340742736RPE65c.1244-2A>T (n.1244-2A>T)
c.968-2A>T (n.968-2A>T)
1g.68431378T>CCA340742737RPE65c.1244-2A>G (n.1244-2A>G)
c.968-2A>G (n.968-2A>G)
1g.68431378T>GCA340742739RPE65c.1244-2A>C (n.1244-2A>C)
c.968-2A>C (n.968-2A>C)
1g.68431380C>ACA2646150224RPE65c.1244-4G>T (n.1244-4G>T)
c.968-4G>T (n.968-4G>T)
 ClinVar gnomAD v4
1g.68431380C=CA1148242346RPE65c.1244-4G= (n.1244-4G=)
c.968-4G= (n.968-4G=)
1g.68431380C>TCA902224RPE65c.1244-4G>A (n.1244-4G>A)
c.968-4G>A (n.968-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431381G>ACA902225RPE65c.1244-5C>T (n.1244-5C>T)
c.968-5C>T (n.968-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431381G=CA1143531215RPE65c.1244-5C= (n.1244-5C=)
c.968-5C= (n.968-5C=)
1g.68431381_68431382delCA2541006887RPE65c.1244-6_1244-5del (n.1244-6_1244-5del)
c.968-6_968-5del (n.968-6_968-5del)
1g.68431382A=CA1173558018RPE65c.1244-6T= (n.1244-6T=)
c.968-6T= (n.968-6T=)
1g.68431382A>CCA2646150244RPE65c.1244-6T>G (n.1244-6T>G)
c.968-6T>G (n.968-6T>G)
 gnomAD v4
1g.68431382A>GCA523299192RPE65c.1244-6T>C (n.1244-6T>C)
c.968-6T>C (n.968-6T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431383A=CA1173558019RPE65c.1244-7T= (n.1244-7T=)
c.968-7T= (n.968-7T=)
1g.68431383A>CCA1002830296RPE65c.1244-7T>G (n.1244-7T>G)
c.968-7T>G (n.968-7T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.68431383A>GCA2646150249RPE65c.1244-7T>C (n.1244-7T>C)
c.968-7T>C (n.968-7T>C)
 gnomAD v4
1g.68431384_68431385insGGCA2514038526RPE65c.1244-9_1244-8insCC (n.1244-9_1244-8insCC)
c.968-9_968-8insCC (n.968-9_968-8insCC)
1g.68431385T>ACA23564103RPE65c.1244-9A>T (n.1244-9A>T)
c.968-9A>T (n.968-9A>T)
 dbSNP
1g.68431385T>CCA2573132573RPE65c.1244-9A>G (n.1244-9A>G)
c.968-9A>G (n.968-9A>G)
 ClinVar dbSNP
1g.68431385T=CA1173558020RPE65c.1244-9A= (n.1244-9A=)
c.968-9A= (n.968-9A=)
1g.68431386A>GCA2646150252RPE65c.1244-10T>C (n.1244-10T>C)
c.968-10T>C (n.968-10T>C)
 gnomAD v4
1g.68431387G>ACA2574402878RPE65c.1244-11C>T (n.1244-11C>T)
c.968-11C>T (n.968-11C>T)
1g.68431387G>CCA902226RPE65c.1244-11C>G (n.1244-11C>G)
c.968-11C>G (n.968-11C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431387G=CA1173558021RPE65c.1244-11C= (n.1244-11C=)
c.968-11C= (n.968-11C=)
1g.68431389G>ACA902227RPE65c.1244-13C>T (n.1244-13C>T)
c.968-13C>T (n.968-13C>T)
 dbSNP ExAC
1g.68431389G=CA1149132546RPE65c.1244-13C= (n.1244-13C=)
c.968-13C= (n.968-13C=)
1g.68431390C>TCA2574402879RPE65c.1244-14G>A (n.1244-14G>A)
c.968-14G>A (n.968-14G>A)
1g.68431391A>GCA2646150259RPE65c.1244-15T>C (n.1244-15T>C)
c.968-15T>C (n.968-15T>C)
 gnomAD v4
1g.68431393A=CA1144311767RPE65c.1244-17T= (n.1244-17T=)
c.968-17T= (n.968-17T=)
1g.68431393A>GCA523299193RPE65c.1244-17T>C (n.1244-17T>C)
c.968-17T>C (n.968-17T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.68431393A>TCA902228RPE65c.1244-17T>A (n.1244-17T>A)
c.968-17T>A (n.968-17T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431394T>CCA902229RPE65c.1244-18A>G (n.1244-18A>G)
c.968-18A>G (n.968-18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431394T>GCA2502631286RPE65c.1244-18A>C (n.1244-18A>C)
c.968-18A>C (n.968-18A>C)
1g.68431394T=CA1173558022RPE65c.1244-18A= (n.1244-18A=)
c.968-18A= (n.968-18A=)
1g.68431395G>ACA23564157RPE65c.1244-19C>T (n.1244-19C>T)
c.968-19C>T (n.968-19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68431395G=CA1145849719RPE65c.1244-19C= (n.1244-19C=)
c.968-19C= (n.968-19C=)
1g.68431395G>TCA902230RPE65c.1244-19C>A (n.1244-19C>A)
c.968-19C>A (n.968-19C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431396C=CA1173558023RPE65c.1244-20G= (n.1244-20G=)
c.968-20G= (n.968-20G=)
1g.68431396C>TCA902231RPE65c.1244-20G>A (n.1244-20G>A)
c.968-20G>A (n.968-20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431397_68431398insAGCA2744009100RPE65c.1244-22_1244-21insCT (n.1244-22_1244-21insCT)
c.968-22_968-21insCT (n.968-22_968-21insCT)
1g.68431398T>CCA523299194RPE65c.1244-22A>G (n.1244-22A>G)
c.968-22A>G (n.968-22A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.68431398T=CA1173558024RPE65c.1244-22A= (n.1244-22A=)
c.968-22A= (n.968-22A=)
1g.68431401G>ACA1002830297RPE65c.1244-25C>T (n.1244-25C>T)
c.968-25C>T (n.968-25C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.68431401G=CA1173558025RPE65c.1244-25C= (n.1244-25C=)
c.968-25C= (n.968-25C=)
1g.68431406C=CA1173558026RPE65c.1244-30G= (n.1244-30G=)
c.968-30G= (n.968-30G=)
1g.68431406C>TCA902232RPE65c.1244-30G>A (n.1244-30G>A)
c.968-30G>A (n.968-30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431407T>CCA902233RPE65c.1244-31A>G (n.1244-31A>G)
c.968-31A>G (n.968-31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431407T>GCA2574402880RPE65c.1244-31A>C (n.1244-31A>C)
c.968-31A>C (n.968-31A>C)
 gnomAD v4
1g.68431407T=CA1141019808RPE65c.1244-31A= (n.1244-31A=)
c.968-31A= (n.968-31A=)
1g.68431408C>ACA523299196RPE65c.1244-32G>T (n.1244-32G>T)
c.968-32G>T (n.968-32G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.68431408C=CA1173558027RPE65c.1244-32G= (n.1244-32G=)
c.968-32G= (n.968-32G=)
1g.68431408_68431409insAGCA2502029125RPE65c.1244-33_1244-32insCT (n.1244-33_1244-32insCT)
c.968-33_968-32insCT (n.968-33_968-32insCT)
1g.68431413T>ACA2646150275RPE65c.1244-37A>T (n.1244-37A>T)
c.968-37A>T (n.968-37A>T)
 gnomAD v4
1g.68431413T>CCA2646150277RPE65c.1244-37A>G (n.1244-37A>G)
c.968-37A>G (n.968-37A>G)
 gnomAD v4
1g.68431414C>ACA2695825739RPE65c.1244-38G>T (n.1244-38G>T)
c.968-38G>T (n.968-38G>T)
 dbSNP
1g.68431414C=CA1173558028RPE65c.1244-38G= (n.1244-38G=)
c.968-38G= (n.968-38G=)
1g.68431414C>GCA523299198RPE65c.1244-38G>C (n.1244-38G>C)
c.968-38G>C (n.968-38G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431414C>TCA902234RPE65c.1244-38G>A (n.1244-38G>A)
c.968-38G>A (n.968-38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431417T>CCA23564188RPE65c.1244-41A>G (n.1244-41A>G)
c.968-41A>G (n.968-41A>G)
 dbSNP
1g.68431417T=CA1143488660RPE65c.1244-41A= (n.1244-41A=)
c.968-41A= (n.968-41A=)
1g.68431417_68431418insAGCA2744009101RPE65c.1244-42_1244-41insCT (n.1244-42_1244-41insCT)
c.968-42_968-41insCT (n.968-42_968-41insCT)

Number of alleles fetched