Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149898417C>ACA361696159PDE6Ac.1353G>T (p.Gln451His)
n.1383+958G>T
c.1110G>T (p.Gln370His)
c.807G>T (p.Gln269His)
c.468G>T (p.Gln156His)
c.306G>T (p.Gln102His)
c.276G>T (p.Gln92His)
5g.149898417C=CA1590705220PDE6Ac.1353G= (p.Gln451=)
n.1383+958G=
c.1110G= (p.Gln370=)
c.807G= (p.Gln269=)
c.468G= (p.Gln156=)
c.306G= (p.Gln102=)
c.276G= (p.Gln92=)
5g.149898417C>GCA361696160PDE6Ac.1353G>C (p.Gln451His)
n.1383+958G>C
c.1110G>C (p.Gln370His)
c.807G>C (p.Gln269His)
c.468G>C (p.Gln156His)
c.306G>C (p.Gln102His)
c.276G>C (p.Gln92His)
5g.149898417C>TCA447141525PDE6Ac.1353G>A (p.Gln451=)
n.1383+958G>A
c.1110G>A (p.Gln370=)
c.807G>A (p.Gln269=)
c.468G>A (p.Gln156=)
c.306G>A (p.Gln102=)
c.276G>A (p.Gln92=)
 dbSNP gnomAD v4
5g.149898418T>ACA361696163PDE6Ac.1352A>T (p.Gln451Leu)
n.1383+957A>T
c.1109A>T (p.Gln370Leu)
c.806A>T (p.Gln269Leu)
c.467A>T (p.Gln156Leu)
c.305A>T (p.Gln102Leu)
c.275A>T (p.Gln92Leu)
5g.149898418T>CCA361696161PDE6Ac.1352A>G (p.Gln451Arg)
n.1383+957A>G
c.1109A>G (p.Gln370Arg)
c.806A>G (p.Gln269Arg)
c.467A>G (p.Gln156Arg)
c.305A>G (p.Gln102Arg)
c.275A>G (p.Gln92Arg)
 COSMIC
5g.149898418T>GCA361696162PDE6Ac.1352A>C (p.Gln451Pro)
n.1383+957A>C
c.1109A>C (p.Gln370Pro)
c.806A>C (p.Gln269Pro)
c.467A>C (p.Gln156Pro)
c.305A>C (p.Gln102Pro)
c.275A>C (p.Gln92Pro)
5g.149898419G>ACA361696164PDE6Ac.1351C>T (p.Gln451Ter)
n.1383+956C>T
c.1108C>T (p.Gln370Ter)
c.805C>T (p.Gln269Ter)
c.466C>T (p.Gln156Ter)
c.304C>T (p.Gln102Ter)
c.274C>T (p.Gln92Ter)
5g.149898419G>CCA361696165PDE6Ac.1351C>G (p.Gln451Glu)
n.1383+956C>G
c.1108C>G (p.Gln370Glu)
c.805C>G (p.Gln269Glu)
c.466C>G (p.Gln156Glu)
c.304C>G (p.Gln102Glu)
c.274C>G (p.Gln92Glu)
5g.149898419G>TCA361696166PDE6Ac.1351C>A (p.Gln451Lys)
n.1383+956C>A
c.1108C>A (p.Gln370Lys)
c.805C>A (p.Gln269Lys)
c.466C>A (p.Gln156Lys)
c.304C>A (p.Gln102Lys)
c.274C>A (p.Gln92Lys)
5g.149898420G>ACA447141526PDE6Ac.1350C>T (p.Phe450=)
n.1383+955C>T
c.1107C>T (p.Phe369=)
c.804C>T (p.Phe268=)
c.465C>T (p.Phe155=)
c.303C>T (p.Phe101=)
c.273C>T (p.Phe91=)
5g.149898420G>CCA361696167PDE6Ac.1350C>G (p.Phe450Leu)
n.1383+955C>G
c.1107C>G (p.Phe369Leu)
c.804C>G (p.Phe268Leu)
c.465C>G (p.Phe155Leu)
c.303C>G (p.Phe101Leu)
c.273C>G (p.Phe91Leu)
5g.149898420G>TCA361696168PDE6Ac.1350C>A (p.Phe450Leu)
n.1383+955C>A
c.1107C>A (p.Phe369Leu)
c.804C>A (p.Phe268Leu)
c.465C>A (p.Phe155Leu)
c.303C>A (p.Phe101Leu)
c.273C>A (p.Phe91Leu)
 gnomAD v4
5g.149898421A=CA1590705223PDE6Ac.1349T= (p.Phe450=)
n.1383+954T=
c.1106T= (p.Phe369=)
c.803T= (p.Phe268=)
c.464T= (p.Phe155=)
c.302T= (p.Phe101=)
c.272T= (p.Phe91=)
5g.149898421A>CCA361696170PDE6Ac.1349T>G (p.Phe450Cys)
n.1383+954T>G
c.1106T>G (p.Phe369Cys)
c.803T>G (p.Phe268Cys)
c.464T>G (p.Phe155Cys)
c.302T>G (p.Phe101Cys)
c.272T>G (p.Phe91Cys)
5g.149898421A>GCA3504723PDE6Ac.1349T>C (p.Phe450Ser)
n.1383+954T>C
c.1106T>C (p.Phe369Ser)
c.803T>C (p.Phe268Ser)
c.464T>C (p.Phe155Ser)
c.302T>C (p.Phe101Ser)
c.272T>C (p.Phe91Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149898421A>TCA361696169PDE6Ac.1349T>A (p.Phe450Tyr)
n.1383+954T>A
c.1106T>A (p.Phe369Tyr)
c.803T>A (p.Phe268Tyr)
c.464T>A (p.Phe155Tyr)
c.302T>A (p.Phe101Tyr)
c.272T>A (p.Phe91Tyr)
5g.149898422A=CA1590705230PDE6Ac.1348T= (p.Phe450=)
n.1383+953T=
c.1105T= (p.Phe369=)
c.802T= (p.Phe268=)
c.463T= (p.Phe155=)
c.301T= (p.Phe101=)
c.271T= (p.Phe91=)
5g.149898422A>CCA361696171PDE6Ac.1348T>G (p.Phe450Val)
n.1383+953T>G
c.1105T>G (p.Phe369Val)
c.802T>G (p.Phe268Val)
c.463T>G (p.Phe155Val)
c.301T>G (p.Phe101Val)
c.271T>G (p.Phe91Val)
5g.149898422A>GCA129072191PDE6Ac.1348T>C (p.Phe450Leu)
n.1383+953T>C
c.1105T>C (p.Phe369Leu)
c.802T>C (p.Phe268Leu)
c.463T>C (p.Phe155Leu)
c.301T>C (p.Phe101Leu)
c.271T>C (p.Phe91Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.149898422A>TCA361696172PDE6Ac.1348T>A (p.Phe450Ile)
n.1383+953T>A
c.1105T>A (p.Phe369Ile)
c.802T>A (p.Phe268Ile)
c.463T>A (p.Phe155Ile)
c.301T>A (p.Phe101Ile)
c.271T>A (p.Phe91Ile)
5g.149898423A>CCA361696173PDE6Ac.1347T>G (p.Ile449Met)
n.1383+952T>G
c.1104T>G (p.Ile368Met)
c.801T>G (p.Ile267Met)
c.462T>G (p.Ile154Met)
c.300T>G (p.Ile100Met)
c.270T>G (p.Ile90Met)
5g.149898423A>GCA447141528PDE6Ac.1347T>C (p.Ile449=)
n.1383+952T>C
c.1104T>C (p.Ile368=)
c.801T>C (p.Ile267=)
c.462T>C (p.Ile154=)
c.300T>C (p.Ile100=)
c.270T>C (p.Ile90=)
5g.149898423A>TCA447141527PDE6Ac.1347T>A (p.Ile449=)
n.1383+952T>A
c.1104T>A (p.Ile368=)
c.801T>A (p.Ile267=)
c.462T>A (p.Ile154=)
c.300T>A (p.Ile100=)
c.270T>A (p.Ile90=)
 gnomAD v4
5g.149898424A>CCA361696174PDE6Ac.1346T>G (p.Ile449Ser)
n.1383+951T>G
c.1103T>G (p.Ile368Ser)
c.800T>G (p.Ile267Ser)
c.461T>G (p.Ile154Ser)
c.299T>G (p.Ile100Ser)
c.269T>G (p.Ile90Ser)
5g.149898424A>GCA361696175PDE6Ac.1346T>C (p.Ile449Thr)
n.1383+951T>C
c.1103T>C (p.Ile368Thr)
c.800T>C (p.Ile267Thr)
c.461T>C (p.Ile154Thr)
c.299T>C (p.Ile100Thr)
c.269T>C (p.Ile90Thr)
5g.149898424A>TCA361696176PDE6Ac.1346T>A (p.Ile449Asn)
n.1383+951T>A
c.1103T>A (p.Ile368Asn)
c.800T>A (p.Ile267Asn)
c.461T>A (p.Ile154Asn)
c.299T>A (p.Ile100Asn)
c.269T>A (p.Ile90Asn)
5g.149898425T>ACA361696177PDE6Ac.1345A>T (p.Ile449Phe)
n.1383+950A>T
c.1102A>T (p.Ile368Phe)
c.799A>T (p.Ile267Phe)
c.460A>T (p.Ile154Phe)
c.298A>T (p.Ile100Phe)
c.268A>T (p.Ile90Phe)
5g.149898425T>CCA361696178PDE6Ac.1345A>G (p.Ile449Val)
n.1383+950A>G
c.1102A>G (p.Ile368Val)
c.799A>G (p.Ile267Val)
c.460A>G (p.Ile154Val)
c.298A>G (p.Ile100Val)
c.268A>G (p.Ile90Val)
 ClinVar gnomAD v4
5g.149898425T>GCA361696179PDE6Ac.1345A>C (p.Ile449Leu)
n.1383+950A>C
c.1102A>C (p.Ile368Leu)
c.799A>C (p.Ile267Leu)
c.460A>C (p.Ile154Leu)
c.298A>C (p.Ile100Leu)
c.268A>C (p.Ile90Leu)
 COSMIC
5g.149898426A=CA1590705233PDE6Ac.1344T= (p.Asp448=)
n.1383+949T=
c.1101T= (p.Asp367=)
c.798T= (p.Asp266=)
c.459T= (p.Asp153=)
c.297T= (p.Asp99=)
c.267T= (p.Asp89=)
5g.149898426A>CCA361696180PDE6Ac.1344T>G (p.Asp448Glu)
n.1383+949T>G
c.1101T>G (p.Asp367Glu)
c.798T>G (p.Asp266Glu)
c.459T>G (p.Asp153Glu)
c.297T>G (p.Asp99Glu)
c.267T>G (p.Asp89Glu)
5g.149898426A>GCA447141529PDE6Ac.1344T>C (p.Asp448=)
n.1383+949T>C
c.1101T>C (p.Asp367=)
c.798T>C (p.Asp266=)
c.459T>C (p.Asp153=)
c.297T>C (p.Asp99=)
c.267T>C (p.Asp89=)
 dbSNP
5g.149898426A>TCA361696181PDE6Ac.1344T>A (p.Asp448Glu)
n.1383+949T>A
c.1101T>A (p.Asp367Glu)
c.798T>A (p.Asp266Glu)
c.459T>A (p.Asp153Glu)
c.297T>A (p.Asp99Glu)
c.267T>A (p.Asp89Glu)
 dbSNP gnomAD v4
5g.149898427T>ACA361696182PDE6Ac.1343A>T (p.Asp448Val)
n.1383+948A>T
c.1100A>T (p.Asp367Val)
c.797A>T (p.Asp266Val)
c.458A>T (p.Asp153Val)
c.296A>T (p.Asp99Val)
c.266A>T (p.Asp89Val)
 gnomAD v4
5g.149898427T>CCA361696183PDE6Ac.1343A>G (p.Asp448Gly)
n.1383+948A>G
c.1100A>G (p.Asp367Gly)
c.797A>G (p.Asp266Gly)
c.458A>G (p.Asp153Gly)
c.296A>G (p.Asp99Gly)
c.266A>G (p.Asp89Gly)
 gnomAD v4
5g.149898427T>GCA361696184PDE6Ac.1343A>C (p.Asp448Ala)
n.1383+948A>C
c.1100A>C (p.Asp367Ala)
c.797A>C (p.Asp266Ala)
c.458A>C (p.Asp153Ala)
c.296A>C (p.Asp99Ala)
c.266A>C (p.Asp89Ala)
5g.149898428C>ACA361696185PDE6Ac.1342G>T (p.Asp448Tyr)
n.1383+947G>T
c.1099G>T (p.Asp367Tyr)
c.796G>T (p.Asp266Tyr)
c.457G>T (p.Asp153Tyr)
c.295G>T (p.Asp99Tyr)
c.265G>T (p.Asp89Tyr)
5g.149898428C>GCA361696187PDE6Ac.1342G>C (p.Asp448His)
n.1383+947G>C
c.1099G>C (p.Asp367His)
c.796G>C (p.Asp266His)
c.457G>C (p.Asp153His)
c.295G>C (p.Asp99His)
c.265G>C (p.Asp89His)
5g.149898428C>TCA361696186PDE6Ac.1342G>A (p.Asp448Asn)
n.1383+947G>A
c.1099G>A (p.Asp367Asn)
c.796G>A (p.Asp266Asn)
c.457G>A (p.Asp153Asn)
c.295G>A (p.Asp99Asn)
c.265G>A (p.Asp89Asn)
5g.149898429C>ACA361696188PDE6Ac.1341G>T (p.Lys447Asn)
n.1383+946G>T
c.1098G>T (p.Lys366Asn)
c.795G>T (p.Lys265Asn)
c.456G>T (p.Lys152Asn)
c.294G>T (p.Lys98Asn)
c.264G>T (p.Lys88Asn)
5g.149898429C>GCA361696189PDE6Ac.1341G>C (p.Lys447Asn)
n.1383+946G>C
c.1098G>C (p.Lys366Asn)
c.795G>C (p.Lys265Asn)
c.456G>C (p.Lys152Asn)
c.294G>C (p.Lys98Asn)
c.264G>C (p.Lys88Asn)
5g.149898429C>TCA447141530PDE6Ac.1341G>A (p.Lys447=)
n.1383+946G>A
c.1098G>A (p.Lys366=)
c.795G>A (p.Lys265=)
c.456G>A (p.Lys152=)
c.294G>A (p.Lys98=)
c.264G>A (p.Lys88=)
5g.149898430T>ACA361696190PDE6Ac.1340A>T (p.Lys447Met)
n.1383+945A>T
c.1097A>T (p.Lys366Met)
c.794A>T (p.Lys265Met)
c.455A>T (p.Lys152Met)
c.293A>T (p.Lys98Met)
c.263A>T (p.Lys88Met)
5g.149898430T>CCA361696191PDE6Ac.1340A>G (p.Lys447Arg)
n.1383+945A>G
c.1097A>G (p.Lys366Arg)
c.794A>G (p.Lys265Arg)
c.455A>G (p.Lys152Arg)
c.293A>G (p.Lys98Arg)
c.263A>G (p.Lys88Arg)
5g.149898430T>GCA361696192PDE6Ac.1340A>C (p.Lys447Thr)
n.1383+945A>C
c.1097A>C (p.Lys366Thr)
c.794A>C (p.Lys265Thr)
c.455A>C (p.Lys152Thr)
c.293A>C (p.Lys98Thr)
c.263A>C (p.Lys88Thr)
5g.149898431T>ACA361696193PDE6Ac.1339A>T (p.Lys447Ter)
n.1383+944A>T
c.1096A>T (p.Lys366Ter)
c.793A>T (p.Lys265Ter)
c.454A>T (p.Lys152Ter)
c.292A>T (p.Lys98Ter)
c.262A>T (p.Lys88Ter)
5g.149898431T>CCA361696194PDE6Ac.1339A>G (p.Lys447Glu)
n.1383+944A>G
c.1096A>G (p.Lys366Glu)
c.793A>G (p.Lys265Glu)
c.454A>G (p.Lys152Glu)
c.292A>G (p.Lys98Glu)
c.262A>G (p.Lys88Glu)
5g.149898431T>GCA361696195PDE6Ac.1339A>C (p.Lys447Gln)
n.1383+944A>C
c.1096A>C (p.Lys366Gln)
c.793A>C (p.Lys265Gln)
c.454A>C (p.Lys152Gln)
c.292A>C (p.Lys98Gln)
c.262A>C (p.Lys88Gln)
5g.149898432C>ACA361696196PDE6Ac.1338G>T (p.Arg446Ser)
n.1383+943G>T
c.1095G>T (p.Arg365Ser)
c.792G>T (p.Arg264Ser)
c.453G>T (p.Arg151Ser)
c.291G>T (p.Arg97Ser)
c.261G>T (p.Arg87Ser)
5g.149898432C>GCA361696197PDE6Ac.1338G>C (p.Arg446Ser)
n.1383+943G>C
c.1095G>C (p.Arg365Ser)
c.792G>C (p.Arg264Ser)
c.453G>C (p.Arg151Ser)
c.291G>C (p.Arg97Ser)
c.261G>C (p.Arg87Ser)
5g.149898432C>TCA447141531PDE6Ac.1338G>A (p.Arg446=)
n.1383+943G>A
c.1095G>A (p.Arg365=)
c.792G>A (p.Arg264=)
c.453G>A (p.Arg151=)
c.291G>A (p.Arg97=)
c.261G>A (p.Arg87=)
5g.149898433C>ACA361696199PDE6Ac.1337G>T (p.Arg446Met)
n.1383+942G>T
c.1094G>T (p.Arg365Met)
c.791G>T (p.Arg264Met)
c.452G>T (p.Arg151Met)
c.290G>T (p.Arg97Met)
c.260G>T (p.Arg87Met)
5g.149898433C>GCA361696200PDE6Ac.1337G>C (p.Arg446Thr)
n.1383+942G>C
c.1094G>C (p.Arg365Thr)
c.791G>C (p.Arg264Thr)
c.452G>C (p.Arg151Thr)
c.290G>C (p.Arg97Thr)
c.260G>C (p.Arg87Thr)
5g.149898433C>TCA361696198PDE6Ac.1337G>A (p.Arg446Lys)
n.1383+942G>A
c.1094G>A (p.Arg365Lys)
c.791G>A (p.Arg264Lys)
c.452G>A (p.Arg151Lys)
c.290G>A (p.Arg97Lys)
c.260G>A (p.Arg87Lys)
 gnomAD v4
5g.149898434delCA2695205578PDE6Ac.1336del (p.Arg446GlyfsTer8)
n.1383+941del
c.1093del (p.Arg365GlyfsTer8)
c.790del (p.Arg264GlyfsTer8)
c.451del (p.Arg151GlyfsTer8)
c.289del (p.Arg97GlyfsTer8)
c.259del (p.Arg87GlyfsTer8)
5g.149898434T>ACA361696201PDE6Ac.1336A>T (p.Arg446Trp)
n.1383+941A>T
c.1093A>T (p.Arg365Trp)
c.790A>T (p.Arg264Trp)
c.451A>T (p.Arg151Trp)
c.289A>T (p.Arg97Trp)
c.259A>T (p.Arg87Trp)
5g.149898434T>CCA361696202PDE6Ac.1336A>G (p.Arg446Gly)
n.1383+941A>G
c.1093A>G (p.Arg365Gly)
c.790A>G (p.Arg264Gly)
c.451A>G (p.Arg151Gly)
c.289A>G (p.Arg97Gly)
c.259A>G (p.Arg87Gly)
 dbSNP
5g.149898434T>GCA447141532PDE6Ac.1336A>C (p.Arg446=)
n.1383+941A>C
c.1093A>C (p.Arg365=)
c.790A>C (p.Arg264=)
c.451A>C (p.Arg151=)
c.289A>C (p.Arg97=)
c.259A>C (p.Arg87=)
5g.149898434T=CA1590705238PDE6Ac.1336A= (p.Arg446=)
n.1383+941A=
c.1093A= (p.Arg365=)
c.790A= (p.Arg264=)
c.451A= (p.Arg151=)
c.289A= (p.Arg97=)
c.259A= (p.Arg87=)
5g.149898435A=CA1590705243PDE6Ac.1335T= (p.Asn445=)
n.1383+940T=
c.1092T= (p.Asn364=)
c.789T= (p.Asn263=)
c.450T= (p.Asn150=)
c.288T= (p.Asn96=)
c.258T= (p.Asn86=)
5g.149898435A>CCA361696203PDE6Ac.1335T>G (p.Asn445Lys)
n.1383+940T>G
c.1092T>G (p.Asn364Lys)
c.789T>G (p.Asn263Lys)
c.450T>G (p.Asn150Lys)
c.288T>G (p.Asn96Lys)
c.258T>G (p.Asn86Lys)
5g.149898435A>GCA3504724PDE6Ac.1335T>C (p.Asn445=)
n.1383+940T>C
c.1092T>C (p.Asn364=)
c.789T>C (p.Asn263=)
c.450T>C (p.Asn150=)
c.288T>C (p.Asn96=)
c.258T>C (p.Asn86=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898435A>TCA361696204PDE6Ac.1335T>A (p.Asn445Lys)
n.1383+940T>A
c.1092T>A (p.Asn364Lys)
c.789T>A (p.Asn263Lys)
c.450T>A (p.Asn150Lys)
c.288T>A (p.Asn96Lys)
c.258T>A (p.Asn86Lys)
5g.149898436T>ACA361696205PDE6Ac.1334A>T (p.Asn445Ile)
n.1383+939A>T
c.1091A>T (p.Asn364Ile)
c.788A>T (p.Asn263Ile)
c.449A>T (p.Asn150Ile)
c.287A>T (p.Asn96Ile)
c.257A>T (p.Asn86Ile)
5g.149898436T>CCA361696206PDE6Ac.1334A>G (p.Asn445Ser)
n.1383+939A>G
c.1091A>G (p.Asn364Ser)
c.788A>G (p.Asn263Ser)
c.449A>G (p.Asn150Ser)
c.287A>G (p.Asn96Ser)
c.257A>G (p.Asn86Ser)
 dbSNP
5g.149898436T>GCA361696207PDE6Ac.1334A>C (p.Asn445Thr)
n.1383+939A>C
c.1091A>C (p.Asn364Thr)
c.788A>C (p.Asn263Thr)
c.449A>C (p.Asn150Thr)
c.287A>C (p.Asn96Thr)
c.257A>C (p.Asn86Thr)
5g.149898436T=CA1590705250PDE6Ac.1334A= (p.Asn445=)
n.1383+939A=
c.1091A= (p.Asn364=)
c.788A= (p.Asn263=)
c.449A= (p.Asn150=)
c.287A= (p.Asn96=)
c.257A= (p.Asn86=)
5g.149898437T>ACA361696208PDE6Ac.1333A>T (p.Asn445Tyr)
n.1383+938A>T
c.1090A>T (p.Asn364Tyr)
c.787A>T (p.Asn263Tyr)
c.448A>T (p.Asn150Tyr)
c.286A>T (p.Asn96Tyr)
c.256A>T (p.Asn86Tyr)
 dbSNP gnomAD v2 gnomAD v4
5g.149898437T>CCA361696209PDE6Ac.1333A>G (p.Asn445Asp)
n.1383+938A>G
c.1090A>G (p.Asn364Asp)
c.787A>G (p.Asn263Asp)
c.448A>G (p.Asn150Asp)
c.286A>G (p.Asn96Asp)
c.256A>G (p.Asn86Asp)
5g.149898437T>GCA361696210PDE6Ac.1333A>C (p.Asn445His)
n.1383+938A>C
c.1090A>C (p.Asn364His)
c.787A>C (p.Asn263His)
c.448A>C (p.Asn150His)
c.286A>C (p.Asn96His)
c.256A>C (p.Asn86His)
5g.149898437T=CA1590705253PDE6Ac.1333A= (p.Asn445=)
n.1383+938A=
c.1090A= (p.Asn364=)
c.787A= (p.Asn263=)
c.448A= (p.Asn150=)
c.286A= (p.Asn96=)
c.256A= (p.Asn86=)
5g.149898438T>ACA361696211PDE6Ac.1332A>T (p.Glu444Asp)
n.1383+937A>T
c.1089A>T (p.Glu363Asp)
c.786A>T (p.Glu262Asp)
c.447A>T (p.Glu149Asp)
c.285A>T (p.Glu95Asp)
c.255A>T (p.Glu85Asp)
 gnomAD v4
5g.149898438T>CCA447141533PDE6Ac.1332A>G (p.Glu444=)
n.1383+937A>G
c.1089A>G (p.Glu363=)
c.786A>G (p.Glu262=)
c.447A>G (p.Glu149=)
c.285A>G (p.Glu95=)
c.255A>G (p.Glu85=)
5g.149898438T>GCA361696212PDE6Ac.1332A>C (p.Glu444Asp)
n.1383+937A>C
c.1089A>C (p.Glu363Asp)
c.786A>C (p.Glu262Asp)
c.447A>C (p.Glu149Asp)
c.285A>C (p.Glu95Asp)
c.255A>C (p.Glu85Asp)
5g.149898439T>ACA361696215PDE6Ac.1331A>T (p.Glu444Val)
n.1383+936A>T
c.1088A>T (p.Glu363Val)
c.785A>T (p.Glu262Val)
c.446A>T (p.Glu149Val)
c.284A>T (p.Glu95Val)
c.254A>T (p.Glu85Val)
5g.149898439T>CCA361696214PDE6Ac.1331A>G (p.Glu444Gly)
n.1383+936A>G
c.1088A>G (p.Glu363Gly)
c.785A>G (p.Glu262Gly)
c.446A>G (p.Glu149Gly)
c.284A>G (p.Glu95Gly)
c.254A>G (p.Glu85Gly)
5g.149898439T>GCA361696213PDE6Ac.1331A>C (p.Glu444Ala)
n.1383+936A>C
c.1088A>C (p.Glu363Ala)
c.785A>C (p.Glu262Ala)
c.446A>C (p.Glu149Ala)
c.284A>C (p.Glu95Ala)
c.254A>C (p.Glu85Ala)
5g.149898440C>ACA361696216PDE6Ac.1330G>T (p.Glu444Ter)
n.1383+935G>T
c.1087G>T (p.Glu363Ter)
c.784G>T (p.Glu262Ter)
c.445G>T (p.Glu149Ter)
c.283G>T (p.Glu95Ter)
c.253G>T (p.Glu85Ter)
5g.149898440C>GCA361696217PDE6Ac.1330G>C (p.Glu444Gln)
n.1383+935G>C
c.1087G>C (p.Glu363Gln)
c.784G>C (p.Glu262Gln)
c.445G>C (p.Glu149Gln)
c.283G>C (p.Glu95Gln)
c.253G>C (p.Glu85Gln)
5g.149898440C>TCA361696218PDE6Ac.1330G>A (p.Glu444Lys)
n.1383+935G>A
c.1087G>A (p.Glu363Lys)
c.784G>A (p.Glu262Lys)
c.445G>A (p.Glu149Lys)
c.283G>A (p.Glu95Lys)
c.253G>A (p.Glu85Lys)
5g.149898441A=CA1590705256PDE6Ac.1329T= (p.Leu443=)
n.1383+934T=
c.1086T= (p.Leu362=)
c.783T= (p.Leu261=)
c.444T= (p.Leu148=)
c.282T= (p.Leu94=)
c.252T= (p.Leu84=)
5g.149898441A>CCA447141534PDE6Ac.1329T>G (p.Leu443=)
n.1383+934T>G
c.1086T>G (p.Leu362=)
c.783T>G (p.Leu261=)
c.444T>G (p.Leu148=)
c.282T>G (p.Leu94=)
c.252T>G (p.Leu84=)
5g.149898441A>GCA3504725PDE6Ac.1329T>C (p.Leu443=)
n.1383+934T>C
c.1086T>C (p.Leu362=)
c.783T>C (p.Leu261=)
c.444T>C (p.Leu148=)
c.282T>C (p.Leu94=)
c.252T>C (p.Leu84=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898441A>TCA447141535PDE6Ac.1329T>A (p.Leu443=)
n.1383+934T>A
c.1086T>A (p.Leu362=)
c.783T>A (p.Leu261=)
c.444T>A (p.Leu148=)
c.282T>A (p.Leu94=)
c.252T>A (p.Leu84=)
5g.149898442A>CCA361696219PDE6Ac.1328T>G (p.Leu443Arg)
n.1383+933T>G
c.1085T>G (p.Leu362Arg)
c.782T>G (p.Leu261Arg)
c.443T>G (p.Leu148Arg)
c.281T>G (p.Leu94Arg)
c.251T>G (p.Leu84Arg)
5g.149898442A>GCA361696220PDE6Ac.1328T>C (p.Leu443Pro)
n.1383+933T>C
c.1085T>C (p.Leu362Pro)
c.782T>C (p.Leu261Pro)
c.443T>C (p.Leu148Pro)
c.281T>C (p.Leu94Pro)
c.251T>C (p.Leu84Pro)
 gnomAD v4
5g.149898442A>TCA361696221PDE6Ac.1328T>A (p.Leu443His)
n.1383+933T>A
c.1085T>A (p.Leu362His)
c.782T>A (p.Leu261His)
c.443T>A (p.Leu148His)
c.281T>A (p.Leu94His)
c.251T>A (p.Leu84His)
5g.149898443G>ACA361696222PDE6Ac.1327C>T (p.Leu443Phe)
n.1383+932C>T
c.1084C>T (p.Leu362Phe)
c.781C>T (p.Leu261Phe)
c.442C>T (p.Leu148Phe)
c.280C>T (p.Leu94Phe)
c.250C>T (p.Leu84Phe)
5g.149898443G>CCA361696223PDE6Ac.1327C>G (p.Leu443Val)
n.1383+932C>G
c.1084C>G (p.Leu362Val)
c.781C>G (p.Leu261Val)
c.442C>G (p.Leu148Val)
c.280C>G (p.Leu94Val)
c.250C>G (p.Leu84Val)
5g.149898443G>TCA361696224PDE6Ac.1327C>A (p.Leu443Ile)
n.1383+932C>A
c.1084C>A (p.Leu362Ile)
c.781C>A (p.Leu261Ile)
c.442C>A (p.Leu148Ile)
c.280C>A (p.Leu94Ile)
c.250C>A (p.Leu84Ile)
5g.149898444T>ACA361696225PDE6Ac.1326A>T (p.Lys442Asn)
n.1383+931A>T
c.1083A>T (p.Lys361Asn)
c.780A>T (p.Lys260Asn)
c.441A>T (p.Lys147Asn)
c.279A>T (p.Lys93Asn)
c.249A>T (p.Lys83Asn)
5g.149898444T>CCA447141536PDE6Ac.1326A>G (p.Lys442=)
n.1383+931A>G
c.1083A>G (p.Lys361=)
c.780A>G (p.Lys260=)
c.441A>G (p.Lys147=)
c.279A>G (p.Lys93=)
c.249A>G (p.Lys83=)
 dbSNP gnomAD v4
5g.149898444T>GCA361696226PDE6Ac.1326A>C (p.Lys442Asn)
n.1383+931A>C
c.1083A>C (p.Lys361Asn)
c.780A>C (p.Lys260Asn)
c.441A>C (p.Lys147Asn)
c.279A>C (p.Lys93Asn)
c.249A>C (p.Lys83Asn)
5g.149898444T=CA1590705260PDE6Ac.1326A= (p.Lys442=)
n.1383+931A=
c.1083A= (p.Lys361=)
c.780A= (p.Lys260=)
c.441A= (p.Lys147=)
c.279A= (p.Lys93=)
c.249A= (p.Lys83=)
5g.149898445T>ACA361696227PDE6Ac.1325A>T (p.Lys442Ile)
n.1383+930A>T
c.1082A>T (p.Lys361Ile)
c.779A>T (p.Lys260Ile)
c.440A>T (p.Lys147Ile)
c.278A>T (p.Lys93Ile)
c.248A>T (p.Lys83Ile)
5g.149898445T>CCA361696229PDE6Ac.1325A>G (p.Lys442Arg)
n.1383+930A>G
c.1082A>G (p.Lys361Arg)
c.779A>G (p.Lys260Arg)
c.440A>G (p.Lys147Arg)
c.278A>G (p.Lys93Arg)
c.248A>G (p.Lys83Arg)
5g.149898445T>GCA361696228PDE6Ac.1325A>C (p.Lys442Thr)
n.1383+930A>C
c.1082A>C (p.Lys361Thr)
c.779A>C (p.Lys260Thr)
c.440A>C (p.Lys147Thr)
c.278A>C (p.Lys93Thr)
c.248A>C (p.Lys83Thr)
 dbSNP
5g.149898445T=CA1590705264PDE6Ac.1325A= (p.Lys442=)
n.1383+930A=
c.1082A= (p.Lys361=)
c.779A= (p.Lys260=)
c.440A= (p.Lys147=)
c.278A= (p.Lys93=)
c.248A= (p.Lys83=)
5g.149898446T>ACA361696230PDE6Ac.1324A>T (p.Lys442Ter)
n.1383+929A>T
c.1081A>T (p.Lys361Ter)
c.778A>T (p.Lys260Ter)
c.439A>T (p.Lys147Ter)
c.277A>T (p.Lys93Ter)
c.247A>T (p.Lys83Ter)
5g.149898446T>CCA361696232PDE6Ac.1324A>G (p.Lys442Glu)
n.1383+929A>G
c.1081A>G (p.Lys361Glu)
c.778A>G (p.Lys260Glu)
c.439A>G (p.Lys147Glu)
c.277A>G (p.Lys93Glu)
c.247A>G (p.Lys83Glu)
5g.149898446T>GCA361696231PDE6Ac.1324A>C (p.Lys442Gln)
n.1383+929A>C
c.1081A>C (p.Lys361Gln)
c.778A>C (p.Lys260Gln)
c.439A>C (p.Lys147Gln)
c.277A>C (p.Lys93Gln)
c.247A>C (p.Lys83Gln)
5g.149898447A=CA1590705268PDE6Ac.1323T= (p.Asn441=)
n.1383+928T=
c.1080T= (p.Asn360=)
c.777T= (p.Asn259=)
c.438T= (p.Asn146=)
c.276T= (p.Asn92=)
c.246T= (p.Asn82=)
5g.149898447A>CCA361696233PDE6Ac.1323T>G (p.Asn441Lys)
n.1383+928T>G
c.1080T>G (p.Asn360Lys)
c.777T>G (p.Asn259Lys)
c.438T>G (p.Asn146Lys)
c.276T>G (p.Asn92Lys)
c.246T>G (p.Asn82Lys)
5g.149898447A>GCA447141537PDE6Ac.1323T>C (p.Asn441=)
n.1383+928T>C
c.1080T>C (p.Asn360=)
c.777T>C (p.Asn259=)
c.438T>C (p.Asn146=)
c.276T>C (p.Asn92=)
c.246T>C (p.Asn82=)
5g.149898447A>TCA3504726PDE6Ac.1323T>A (p.Asn441Lys)
n.1383+928T>A
c.1080T>A (p.Asn360Lys)
c.777T>A (p.Asn259Lys)
c.438T>A (p.Asn146Lys)
c.276T>A (p.Asn92Lys)
c.246T>A (p.Asn82Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898448T>ACA361696234PDE6Ac.1322A>T (p.Asn441Ile)
n.1383+927A>T
c.1079A>T (p.Asn360Ile)
c.776A>T (p.Asn259Ile)
c.437A>T (p.Asn146Ile)
c.275A>T (p.Asn92Ile)
c.245A>T (p.Asn82Ile)
5g.149898448T>CCA129072206PDE6Ac.1322A>G (p.Asn441Ser)
n.1383+927A>G
c.1079A>G (p.Asn360Ser)
c.776A>G (p.Asn259Ser)
c.437A>G (p.Asn146Ser)
c.275A>G (p.Asn92Ser)
c.245A>G (p.Asn82Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.149898448T>GCA361696235PDE6Ac.1322A>C (p.Asn441Thr)
n.1383+927A>C
c.1079A>C (p.Asn360Thr)
c.776A>C (p.Asn259Thr)
c.437A>C (p.Asn146Thr)
c.275A>C (p.Asn92Thr)
c.245A>C (p.Asn82Thr)
5g.149898448T=CA1590705273PDE6Ac.1322A= (p.Asn441=)
n.1383+927A=
c.1079A= (p.Asn360=)
c.776A= (p.Asn259=)
c.437A= (p.Asn146=)
c.275A= (p.Asn92=)
c.245A= (p.Asn82=)
5g.149898449T>ACA361696236PDE6Ac.1321A>T (p.Asn441Tyr)
n.1383+926A>T
c.1078A>T (p.Asn360Tyr)
c.775A>T (p.Asn259Tyr)
c.436A>T (p.Asn146Tyr)
c.274A>T (p.Asn92Tyr)
c.244A>T (p.Asn82Tyr)
5g.149898449T>CCA361696237PDE6Ac.1321A>G (p.Asn441Asp)
n.1383+926A>G
c.1078A>G (p.Asn360Asp)
c.775A>G (p.Asn259Asp)
c.436A>G (p.Asn146Asp)
c.274A>G (p.Asn92Asp)
c.244A>G (p.Asn82Asp)
5g.149898449T>GCA361696238PDE6Ac.1321A>C (p.Asn441His)
n.1383+926A>C
c.1078A>C (p.Asn360His)
c.775A>C (p.Asn259His)
c.436A>C (p.Asn146His)
c.274A>C (p.Asn92His)
c.244A>C (p.Asn82His)
5g.149898450C>ACA361696239PDE6Ac.1320G>T (p.Met440Ile)
n.1383+925G>T
c.1077G>T (p.Met359Ile)
c.774G>T (p.Met258Ile)
c.435G>T (p.Met145Ile)
c.273G>T (p.Met91Ile)
c.243G>T (p.Met81Ile)
 dbSNP COSMIC
5g.149898450C=CA1590705276PDE6Ac.1320G= (p.Met440=)
n.1383+925G=
c.1077G= (p.Met359=)
c.774G= (p.Met258=)
c.435G= (p.Met145=)
c.273G= (p.Met91=)
c.243G= (p.Met81=)
5g.149898450C>GCA361696240PDE6Ac.1320G>C (p.Met440Ile)
n.1383+925G>C
c.1077G>C (p.Met359Ile)
c.774G>C (p.Met258Ile)
c.435G>C (p.Met145Ile)
c.273G>C (p.Met91Ile)
c.243G>C (p.Met81Ile)
5g.149898450C>TCA361696241PDE6Ac.1320G>A (p.Met440Ile)
n.1383+925G>A
c.1077G>A (p.Met359Ile)
c.774G>A (p.Met258Ile)
c.435G>A (p.Met145Ile)
c.273G>A (p.Met91Ile)
c.243G>A (p.Met81Ile)
5g.149898451A>CCA361696242PDE6Ac.1319T>G (p.Met440Arg)
n.1383+924T>G
c.1076T>G (p.Met359Arg)
c.773T>G (p.Met258Arg)
c.434T>G (p.Met145Arg)
c.272T>G (p.Met91Arg)
c.242T>G (p.Met81Arg)
5g.149898451A>GCA361696243PDE6Ac.1319T>C (p.Met440Thr)
n.1383+924T>C
c.1076T>C (p.Met359Thr)
c.773T>C (p.Met258Thr)
c.434T>C (p.Met145Thr)
c.272T>C (p.Met91Thr)
c.242T>C (p.Met81Thr)
5g.149898451A>TCA361696244PDE6Ac.1319T>A (p.Met440Lys)
n.1383+924T>A
c.1076T>A (p.Met359Lys)
c.773T>A (p.Met258Lys)
c.434T>A (p.Met145Lys)
c.272T>A (p.Met91Lys)
c.242T>A (p.Met81Lys)
5g.149898452T>ACA361696245PDE6Ac.1318A>T (p.Met440Leu)
n.1383+923A>T
c.1075A>T (p.Met359Leu)
c.772A>T (p.Met258Leu)
c.433A>T (p.Met145Leu)
c.271A>T (p.Met91Leu)
c.241A>T (p.Met81Leu)
5g.149898452T>CCA361696246PDE6Ac.1318A>G (p.Met440Val)
n.1383+923A>G
c.1075A>G (p.Met359Val)
c.772A>G (p.Met258Val)
c.433A>G (p.Met145Val)
c.271A>G (p.Met91Val)
c.241A>G (p.Met81Val)
5g.149898452T>GCA361696247PDE6Ac.1318A>C (p.Met440Leu)
n.1383+923A>C
c.1075A>C (p.Met359Leu)
c.772A>C (p.Met258Leu)
c.433A>C (p.Met145Leu)
c.271A>C (p.Met91Leu)
c.241A>C (p.Met81Leu)
5g.149898453T>ACA447141538PDE6Ac.1317A>T (p.Ser439=)
n.1383+922A>T
c.1074A>T (p.Ser358=)
c.771A>T (p.Ser257=)
c.432A>T (p.Ser144=)
c.270A>T (p.Ser90=)
c.240A>T (p.Ser80=)
5g.149898453T>CCA447141539PDE6Ac.1317A>G (p.Ser439=)
n.1383+922A>G
c.1074A>G (p.Ser358=)
c.771A>G (p.Ser257=)
c.432A>G (p.Ser144=)
c.270A>G (p.Ser90=)
c.240A>G (p.Ser80=)
5g.149898453T>GCA447141540PDE6Ac.1317A>C (p.Ser439=)
n.1383+922A>C
c.1074A>C (p.Ser358=)
c.771A>C (p.Ser257=)
c.432A>C (p.Ser144=)
c.270A>C (p.Ser90=)
c.240A>C (p.Ser80=)
 dbSNP
5g.149898453T=CA1590705280PDE6Ac.1317A= (p.Ser439=)
n.1383+922A=
c.1074A= (p.Ser358=)
c.771A= (p.Ser257=)
c.432A= (p.Ser144=)
c.270A= (p.Ser90=)
c.240A= (p.Ser80=)
5g.149898454G>ACA361696248PDE6Ac.1316C>T (p.Ser439Leu)
n.1383+921C>T
c.1073C>T (p.Ser358Leu)
c.770C>T (p.Ser257Leu)
c.431C>T (p.Ser144Leu)
c.269C>T (p.Ser90Leu)
c.239C>T (p.Ser80Leu)
 ClinVar dbSNP
5g.149898454G>CCA361696250PDE6Ac.1316C>G (p.Ser439Ter)
n.1383+921C>G
c.1073C>G (p.Ser358Ter)
c.770C>G (p.Ser257Ter)
c.431C>G (p.Ser144Ter)
c.269C>G (p.Ser90Ter)
c.239C>G (p.Ser80Ter)
5g.149898454G>TCA361696249PDE6Ac.1316C>A (p.Ser439Ter)
n.1383+921C>A
c.1073C>A (p.Ser358Ter)
c.770C>A (p.Ser257Ter)
c.431C>A (p.Ser144Ter)
c.269C>A (p.Ser90Ter)
c.239C>A (p.Ser80Ter)
 gnomAD v4
5g.149898455A>CCA361696251PDE6Ac.1315T>G (p.Ser439Ala)
n.1383+920T>G
c.1072T>G (p.Ser358Ala)
c.769T>G (p.Ser257Ala)
c.430T>G (p.Ser144Ala)
c.268T>G (p.Ser90Ala)
c.238T>G (p.Ser80Ala)
5g.149898455A>GCA361696252PDE6Ac.1315T>C (p.Ser439Pro)
n.1383+920T>C
c.1072T>C (p.Ser358Pro)
c.769T>C (p.Ser257Pro)
c.430T>C (p.Ser144Pro)
c.268T>C (p.Ser90Pro)
c.238T>C (p.Ser80Pro)
5g.149898455A>TCA361696253PDE6Ac.1315T>A (p.Ser439Thr)
n.1383+920T>A
c.1072T>A (p.Ser358Thr)
c.769T>A (p.Ser257Thr)
c.430T>A (p.Ser144Thr)
c.268T>A (p.Ser90Thr)
c.238T>A (p.Ser80Thr)
5g.149898456C>ACA361696254PDE6Ac.1314G>T (p.Glu438Asp)
n.1383+919G>T
c.1071G>T (p.Glu357Asp)
c.768G>T (p.Glu256Asp)
c.429G>T (p.Glu143Asp)
c.267G>T (p.Glu89Asp)
c.237G>T (p.Glu79Asp)
5g.149898456C=CA1590705282PDE6Ac.1314G= (p.Glu438=)
n.1383+919G=
c.1071G= (p.Glu357=)
c.768G= (p.Glu256=)
c.429G= (p.Glu143=)
c.267G= (p.Glu89=)
c.237G= (p.Glu79=)
5g.149898456C>GCA361696255PDE6Ac.1314G>C (p.Glu438Asp)
n.1383+919G>C
c.1071G>C (p.Glu357Asp)
c.768G>C (p.Glu256Asp)
c.429G>C (p.Glu143Asp)
c.267G>C (p.Glu89Asp)
c.237G>C (p.Glu79Asp)
5g.149898456C>TCA129072217PDE6Ac.1314G>A (p.Glu438=)
n.1383+919G>A
c.1071G>A (p.Glu357=)
c.768G>A (p.Glu256=)
c.429G>A (p.Glu143=)
c.267G>A (p.Glu89=)
c.237G>A (p.Glu79=)
 dbSNP gnomAD v4
5g.149898457T>ACA361696256PDE6Ac.1313A>T (p.Glu438Val)
n.1383+918A>T
c.1070A>T (p.Glu357Val)
c.767A>T (p.Glu256Val)
c.428A>T (p.Glu143Val)
c.266A>T (p.Glu89Val)
c.236A>T (p.Glu79Val)
5g.149898457T>CCA361696257PDE6Ac.1313A>G (p.Glu438Gly)
n.1383+918A>G
c.1070A>G (p.Glu357Gly)
c.767A>G (p.Glu256Gly)
c.428A>G (p.Glu143Gly)
c.266A>G (p.Glu89Gly)
c.236A>G (p.Glu79Gly)
5g.149898457T>GCA361696258PDE6Ac.1313A>C (p.Glu438Ala)
n.1383+918A>C
c.1070A>C (p.Glu357Ala)
c.767A>C (p.Glu256Ala)
c.428A>C (p.Glu143Ala)
c.266A>C (p.Glu89Ala)
c.236A>C (p.Glu79Ala)
5g.149898458C>ACA361696259PDE6Ac.1312G>T (p.Glu438Ter)
n.1383+917G>T
c.1069G>T (p.Glu357Ter)
c.766G>T (p.Glu256Ter)
c.427G>T (p.Glu143Ter)
c.265G>T (p.Glu89Ter)
c.235G>T (p.Glu79Ter)
5g.149898458C=CA1590705290PDE6Ac.1312G= (p.Glu438=)
n.1383+917G=
c.1069G= (p.Glu357=)
c.766G= (p.Glu256=)
c.427G= (p.Glu143=)
c.265G= (p.Glu89=)
c.235G= (p.Glu79=)
5g.149898458C>GCA361696260PDE6Ac.1312G>C (p.Glu438Gln)
n.1383+917G>C
c.1069G>C (p.Glu357Gln)
c.766G>C (p.Glu256Gln)
c.427G>C (p.Glu143Gln)
c.265G>C (p.Glu89Gln)
c.235G>C (p.Glu79Gln)
5g.149898458C>TCA3504727PDE6Ac.1312G>A (p.Glu438Lys)
n.1383+917G>A
c.1069G>A (p.Glu357Lys)
c.766G>A (p.Glu256Lys)
c.427G>A (p.Glu143Lys)
c.265G>A (p.Glu89Lys)
c.235G>A (p.Glu79Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149898459A>CCA361696261PDE6Ac.1311T>G (p.Tyr437Ter)
n.1383+916T>G
c.1068T>G (p.Tyr356Ter)
c.765T>G (p.Tyr255Ter)
c.426T>G (p.Tyr142Ter)
c.264T>G (p.Tyr88Ter)
c.234T>G (p.Tyr78Ter)
5g.149898459A>GCA447141541PDE6Ac.1311T>C (p.Tyr437=)
n.1383+916T>C
c.1068T>C (p.Tyr356=)
c.765T>C (p.Tyr255=)
c.426T>C (p.Tyr142=)
c.264T>C (p.Tyr88=)
c.234T>C (p.Tyr78=)
5g.149898459A>TCA361696262PDE6Ac.1311T>A (p.Tyr437Ter)
n.1383+916T>A
c.1068T>A (p.Tyr356Ter)
c.765T>A (p.Tyr255Ter)
c.426T>A (p.Tyr142Ter)
c.264T>A (p.Tyr88Ter)
c.234T>A (p.Tyr78Ter)
 ClinVar
5g.149898460T>ACA361696263PDE6Ac.1310A>T (p.Tyr437Phe)
n.1383+915A>T
c.1067A>T (p.Tyr356Phe)
c.764A>T (p.Tyr255Phe)
c.425A>T (p.Tyr142Phe)
c.263A>T (p.Tyr88Phe)
c.233A>T (p.Tyr78Phe)
5g.149898460T>CCA3504728PDE6Ac.1310A>G (p.Tyr437Cys)
n.1383+915A>G
c.1067A>G (p.Tyr356Cys)
c.764A>G (p.Tyr255Cys)
c.425A>G (p.Tyr142Cys)
c.263A>G (p.Tyr88Cys)
c.233A>G (p.Tyr78Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898460T>GCA361696264PDE6Ac.1310A>C (p.Tyr437Ser)
n.1383+915A>C
c.1067A>C (p.Tyr356Ser)
c.764A>C (p.Tyr255Ser)
c.425A>C (p.Tyr142Ser)
c.263A>C (p.Tyr88Ser)
c.233A>C (p.Tyr78Ser)
5g.149898460T=CA1590705298PDE6Ac.1310A= (p.Tyr437=)
n.1383+915A=
c.1067A= (p.Tyr356=)
c.764A= (p.Tyr255=)
c.425A= (p.Tyr142=)
c.263A= (p.Tyr88=)
c.233A= (p.Tyr78=)
5g.149898461A=CA1590705301PDE6Ac.1309T= (p.Tyr437=)
n.1383+914T=
c.1066T= (p.Tyr356=)
c.763T= (p.Tyr255=)
c.424T= (p.Tyr142=)
c.262T= (p.Tyr88=)
c.232T= (p.Tyr78=)
5g.149898461A>CCA361696267PDE6Ac.1309T>G (p.Tyr437Asp)
n.1383+914T>G
c.1066T>G (p.Tyr356Asp)
c.763T>G (p.Tyr255Asp)
c.424T>G (p.Tyr142Asp)
c.262T>G (p.Tyr88Asp)
c.232T>G (p.Tyr78Asp)
 dbSNP gnomAD v4
5g.149898461A>GCA361696266PDE6Ac.1309T>C (p.Tyr437His)
n.1383+914T>C
c.1066T>C (p.Tyr356His)
c.763T>C (p.Tyr255His)
c.424T>C (p.Tyr142His)
c.262T>C (p.Tyr88His)
c.232T>C (p.Tyr78His)
5g.149898461A>TCA361696265PDE6Ac.1309T>A (p.Tyr437Asn)
n.1383+914T>A
c.1066T>A (p.Tyr356Asn)
c.763T>A (p.Tyr255Asn)
c.424T>A (p.Tyr142Asn)
c.262T>A (p.Tyr88Asn)
c.232T>A (p.Tyr78Asn)
5g.149898462G>ACA447141542PDE6Ac.1308C>T (p.Thr436=)
n.1383+913C>T
c.1065C>T (p.Thr355=)
c.762C>T (p.Thr254=)
c.423C>T (p.Thr141=)
c.261C>T (p.Thr87=)
c.231C>T (p.Thr77=)
 dbSNP
5g.149898462G>CCA447141544PDE6Ac.1308C>G (p.Thr436=)
n.1383+913C>G
c.1065C>G (p.Thr355=)
c.762C>G (p.Thr254=)
c.423C>G (p.Thr141=)
c.261C>G (p.Thr87=)
c.231C>G (p.Thr77=)
5g.149898462G>TCA447141543PDE6Ac.1308C>A (p.Thr436=)
n.1383+913C>A
c.1065C>A (p.Thr355=)
c.762C>A (p.Thr254=)
c.423C>A (p.Thr141=)
c.261C>A (p.Thr87=)
c.231C>A (p.Thr77=)
5g.149898463G>ACA361696268PDE6Ac.1307C>T (p.Thr436Ile)
n.1383+912C>T
c.1064C>T (p.Thr355Ile)
c.761C>T (p.Thr254Ile)
c.422C>T (p.Thr141Ile)
c.260C>T (p.Thr87Ile)
c.230C>T (p.Thr77Ile)
 dbSNP
5g.149898463G>CCA361696269PDE6Ac.1307C>G (p.Thr436Ser)
n.1383+912C>G
c.1064C>G (p.Thr355Ser)
c.761C>G (p.Thr254Ser)
c.422C>G (p.Thr141Ser)
c.260C>G (p.Thr87Ser)
c.230C>G (p.Thr77Ser)
5g.149898463G>TCA361696270PDE6Ac.1307C>A (p.Thr436Asn)
n.1383+912C>A
c.1064C>A (p.Thr355Asn)
c.761C>A (p.Thr254Asn)
c.422C>A (p.Thr141Asn)
c.260C>A (p.Thr87Asn)
c.230C>A (p.Thr77Asn)
 ClinVar dbSNP
5g.149898464T>ACA361696271PDE6Ac.1306A>T (p.Thr436Ser)
n.1383+911A>T
c.1063A>T (p.Thr355Ser)
c.760A>T (p.Thr254Ser)
c.421A>T (p.Thr141Ser)
c.259A>T (p.Thr87Ser)
c.229A>T (p.Thr77Ser)
5g.149898464T>CCA361696272PDE6Ac.1306A>G (p.Thr436Ala)
n.1383+911A>G
c.1063A>G (p.Thr355Ala)
c.760A>G (p.Thr254Ala)
c.421A>G (p.Thr141Ala)
c.259A>G (p.Thr87Ala)
c.229A>G (p.Thr77Ala)
5g.149898464T>GCA361696273PDE6Ac.1306A>C (p.Thr436Pro)
n.1383+911A>C
c.1063A>C (p.Thr355Pro)
c.760A>C (p.Thr254Pro)
c.421A>C (p.Thr141Pro)
c.259A>C (p.Thr87Pro)
c.229A>C (p.Thr77Pro)
5g.149898465G>ACA129072228PDE6Ac.1305C>T (p.Asp435=)
n.1383+910C>T
c.1062C>T (p.Asp354=)
c.759C>T (p.Asp253=)
c.420C>T (p.Asp140=)
c.258C>T (p.Asp86=)
c.228C>T (p.Asp76=)
 dbSNP gnomAD v4 COSMIC
5g.149898465G>CCA3504729PDE6Ac.1305C>G (p.Asp435Glu)
n.1383+910C>G
c.1062C>G (p.Asp354Glu)
c.759C>G (p.Asp253Glu)
c.420C>G (p.Asp140Glu)
c.258C>G (p.Asp86Glu)
c.228C>G (p.Asp76Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898465G=CA1590705305PDE6Ac.1305C= (p.Asp435=)
n.1383+910C=
c.1062C= (p.Asp354=)
c.759C= (p.Asp253=)
c.420C= (p.Asp140=)
c.258C= (p.Asp86=)
c.228C= (p.Asp76=)
5g.149898465G>TCA361696274PDE6Ac.1305C>A (p.Asp435Glu)
n.1383+910C>A
c.1062C>A (p.Asp354Glu)
c.759C>A (p.Asp253Glu)
c.420C>A (p.Asp140Glu)
c.258C>A (p.Asp86Glu)
c.228C>A (p.Asp76Glu)
5g.149898466T>ACA361696275PDE6Ac.1304A>T (p.Asp435Val)
n.1383+909A>T
c.1061A>T (p.Asp354Val)
c.758A>T (p.Asp253Val)
c.419A>T (p.Asp140Val)
c.257A>T (p.Asp86Val)
c.227A>T (p.Asp76Val)
5g.149898466T>CCA361696276PDE6Ac.1304A>G (p.Asp435Gly)
n.1383+909A>G
c.1061A>G (p.Asp354Gly)
c.758A>G (p.Asp253Gly)
c.419A>G (p.Asp140Gly)
c.257A>G (p.Asp86Gly)
c.227A>G (p.Asp76Gly)
5g.149898466T>GCA361696277PDE6Ac.1304A>C (p.Asp435Ala)
n.1383+909A>C
c.1061A>C (p.Asp354Ala)
c.758A>C (p.Asp253Ala)
c.419A>C (p.Asp140Ala)
c.257A>C (p.Asp86Ala)
c.227A>C (p.Asp76Ala)
5g.149898467C>ACA361696278PDE6Ac.1303G>T (p.Asp435Tyr)
n.1383+908G>T
c.1060G>T (p.Asp354Tyr)
c.757G>T (p.Asp253Tyr)
c.418G>T (p.Asp140Tyr)
c.256G>T (p.Asp86Tyr)
c.226G>T (p.Asp76Tyr)
5g.149898467C=CA1590705309PDE6Ac.1303G= (p.Asp435=)
n.1383+908G=
c.1060G= (p.Asp354=)
c.757G= (p.Asp253=)
c.418G= (p.Asp140=)
c.256G= (p.Asp86=)
c.226G= (p.Asp76=)
5g.149898467C>GCA361696279PDE6Ac.1303G>C (p.Asp435His)
n.1383+908G>C
c.1060G>C (p.Asp354His)
c.757G>C (p.Asp253His)
c.418G>C (p.Asp140His)
c.256G>C (p.Asp86His)
c.226G>C (p.Asp76His)
 dbSNP
5g.149898467C>TCA361696280PDE6Ac.1303G>A (p.Asp435Asn)
n.1383+908G>A
c.1060G>A (p.Asp354Asn)
c.757G>A (p.Asp253Asn)
c.418G>A (p.Asp140Asn)
c.256G>A (p.Asp86Asn)
c.226G>A (p.Asp76Asn)
5g.149898468A=CA1590705313PDE6Ac.1302T= (p.Pro434=)
n.1383+907T=
c.1059T= (p.Pro353=)
c.756T= (p.Pro252=)
c.417T= (p.Pro139=)
c.255T= (p.Pro85=)
c.225T= (p.Pro75=)
5g.149898468A>CCA129072230PDE6Ac.1302T>G (p.Pro434=)
n.1383+907T>G
c.1059T>G (p.Pro353=)
c.756T>G (p.Pro252=)
c.417T>G (p.Pro139=)
c.255T>G (p.Pro85=)
c.225T>G (p.Pro75=)
 dbSNP
5g.149898468A>GCA447141545PDE6Ac.1302T>C (p.Pro434=)
n.1383+907T>C
c.1059T>C (p.Pro353=)
c.756T>C (p.Pro252=)
c.417T>C (p.Pro139=)
c.255T>C (p.Pro85=)
c.225T>C (p.Pro75=)
5g.149898468A>TCA447141546PDE6Ac.1302T>A (p.Pro434=)
n.1383+907T>A
c.1059T>A (p.Pro353=)
c.756T>A (p.Pro252=)
c.417T>A (p.Pro139=)
c.255T>A (p.Pro85=)
c.225T>A (p.Pro75=)
5g.149898469G>ACA361696281PDE6Ac.1301C>T (p.Pro434Leu)
n.1383+906C>T
c.1058C>T (p.Pro353Leu)
c.755C>T (p.Pro252Leu)
c.416C>T (p.Pro139Leu)
c.254C>T (p.Pro85Leu)
c.224C>T (p.Pro75Leu)
5g.149898469G>CCA361696282PDE6Ac.1301C>G (p.Pro434Arg)
n.1383+906C>G
c.1058C>G (p.Pro353Arg)
c.755C>G (p.Pro252Arg)
c.416C>G (p.Pro139Arg)
c.254C>G (p.Pro85Arg)
c.224C>G (p.Pro75Arg)
 gnomAD v4
5g.149898469G>TCA361696283PDE6Ac.1301C>A (p.Pro434His)
n.1383+906C>A
c.1058C>A (p.Pro353His)
c.755C>A (p.Pro252His)
c.416C>A (p.Pro139His)
c.254C>A (p.Pro85His)
c.224C>A (p.Pro75His)
5g.149898470G>ACA3504730PDE6Ac.1300C>T (p.Pro434Ser)
n.1383+905C>T
c.1057C>T (p.Pro353Ser)
c.754C>T (p.Pro252Ser)
c.415C>T (p.Pro139Ser)
c.253C>T (p.Pro85Ser)
c.223C>T (p.Pro75Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898470G>CCA361696284PDE6Ac.1300C>G (p.Pro434Ala)
n.1383+905C>G
c.1057C>G (p.Pro353Ala)
c.754C>G (p.Pro252Ala)
c.415C>G (p.Pro139Ala)
c.253C>G (p.Pro85Ala)
c.223C>G (p.Pro75Ala)
5g.149898470G=CA1590705320PDE6Ac.1300C= (p.Pro434=)
n.1383+905C=
c.1057C= (p.Pro353=)
c.754C= (p.Pro252=)
c.415C= (p.Pro139=)
c.253C= (p.Pro85=)
c.223C= (p.Pro75=)
5g.149898470G>TCA361696285PDE6Ac.1300C>A (p.Pro434Thr)
n.1383+905C>A
c.1057C>A (p.Pro353Thr)
c.754C>A (p.Pro252Thr)
c.415C>A (p.Pro139Thr)
c.253C>A (p.Pro85Thr)
c.223C>A (p.Pro75Thr)
5g.149898471A>CCA361696286PDE6Ac.1299T>G (p.Asn433Lys)
n.1383+904T>G
c.1056T>G (p.Asn352Lys)
c.753T>G (p.Asn251Lys)
c.414T>G (p.Asn138Lys)
c.252T>G (p.Asn84Lys)
c.222T>G (p.Asn74Lys)
5g.149898471A>GCA447141547PDE6Ac.1299T>C (p.Asn433=)
n.1383+904T>C
c.1056T>C (p.Asn352=)
c.753T>C (p.Asn251=)
c.414T>C (p.Asn138=)
c.252T>C (p.Asn84=)
c.222T>C (p.Asn74=)
5g.149898471A>TCA361696287PDE6Ac.1299T>A (p.Asn433Lys)
n.1383+904T>A
c.1056T>A (p.Asn352Lys)
c.753T>A (p.Asn251Lys)
c.414T>A (p.Asn138Lys)
c.252T>A (p.Asn84Lys)
c.222T>A (p.Asn74Lys)
5g.149898472T>ACA361696288PDE6Ac.1298A>T (p.Asn433Ile)
n.1383+903A>T
c.1055A>T (p.Asn352Ile)
c.752A>T (p.Asn251Ile)
c.413A>T (p.Asn138Ile)
c.251A>T (p.Asn84Ile)
c.221A>T (p.Asn74Ile)
5g.149898472T>CCA361696289PDE6Ac.1298A>G (p.Asn433Ser)
n.1383+903A>G
c.1055A>G (p.Asn352Ser)
c.752A>G (p.Asn251Ser)
c.413A>G (p.Asn138Ser)
c.251A>G (p.Asn84Ser)
c.221A>G (p.Asn74Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149898472T>GCA361696290PDE6Ac.1298A>C (p.Asn433Thr)
n.1383+903A>C
c.1055A>C (p.Asn352Thr)
c.752A>C (p.Asn251Thr)
c.413A>C (p.Asn138Thr)
c.251A>C (p.Asn84Thr)
c.221A>C (p.Asn74Thr)
5g.149898472T=CA1590705327PDE6Ac.1298A= (p.Asn433=)
n.1383+903A=
c.1055A= (p.Asn352=)
c.752A= (p.Asn251=)
c.413A= (p.Asn138=)
c.251A= (p.Asn84=)
c.221A= (p.Asn74=)
5g.149898473T>ACA361696291PDE6Ac.1297A>T (p.Asn433Tyr)
n.1383+902A>T
c.1054A>T (p.Asn352Tyr)
c.751A>T (p.Asn251Tyr)
c.412A>T (p.Asn138Tyr)
c.250A>T (p.Asn84Tyr)
c.220A>T (p.Asn74Tyr)
5g.149898473T>CCA361696292PDE6Ac.1297A>G (p.Asn433Asp)
n.1383+902A>G
c.1054A>G (p.Asn352Asp)
c.751A>G (p.Asn251Asp)
c.412A>G (p.Asn138Asp)
c.250A>G (p.Asn84Asp)
c.220A>G (p.Asn74Asp)
5g.149898473T>GCA361696293PDE6Ac.1297A>C (p.Asn433His)
n.1383+902A>C
c.1054A>C (p.Asn352His)
c.751A>C (p.Asn251His)
c.412A>C (p.Asn138His)
c.250A>C (p.Asn84His)
c.220A>C (p.Asn74His)
5g.149898474T>ACA361696295PDE6Ac.1296A>T (p.Leu432Phe)
n.1383+901A>T
c.1053A>T (p.Leu351Phe)
c.750A>T (p.Leu250Phe)
c.411A>T (p.Leu137Phe)
c.249A>T (p.Leu83Phe)
c.219A>T (p.Leu73Phe)
5g.149898474T>CCA3504731PDE6Ac.1296A>G (p.Leu432=)
n.1383+901A>G
c.1053A>G (p.Leu351=)
c.750A>G (p.Leu250=)
c.411A>G (p.Leu137=)
c.249A>G (p.Leu83=)
c.219A>G (p.Leu73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149898474T>GCA361696294PDE6Ac.1296A>C (p.Leu432Phe)
n.1383+901A>C
c.1053A>C (p.Leu351Phe)
c.750A>C (p.Leu250Phe)
c.411A>C (p.Leu137Phe)
c.249A>C (p.Leu83Phe)
c.219A>C (p.Leu73Phe)
5g.149898474T=CA1590705331PDE6Ac.1296A= (p.Leu432=)
n.1383+901A=
c.1053A= (p.Leu351=)
c.750A= (p.Leu250=)
c.411A= (p.Leu137=)
c.249A= (p.Leu83=)
c.219A= (p.Leu73=)
5g.149898475A=CA1590705336PDE6Ac.1295T= (p.Leu432=)
n.1383+900T=
c.1052T= (p.Leu351=)
c.749T= (p.Leu250=)
c.410T= (p.Leu137=)
c.248T= (p.Leu83=)
c.218T= (p.Leu73=)
5g.149898475A>CCA3504732PDE6Ac.1295T>G (p.Leu432Ter)
n.1383+900T>G
c.1052T>G (p.Leu351Ter)
c.749T>G (p.Leu250Ter)
c.410T>G (p.Leu137Ter)
c.248T>G (p.Leu83Ter)
c.218T>G (p.Leu73Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149898475A>GCA361696296PDE6Ac.1295T>C (p.Leu432Ser)
n.1383+900T>C
c.1052T>C (p.Leu351Ser)
c.749T>C (p.Leu250Ser)
c.410T>C (p.Leu137Ser)
c.248T>C (p.Leu83Ser)
c.218T>C (p.Leu73Ser)
5g.149898475A>TCA361696297PDE6Ac.1295T>A (p.Leu432Ter)
n.1383+900T>A
c.1052T>A (p.Leu351Ter)
c.749T>A (p.Leu250Ter)
c.410T>A (p.Leu137Ter)
c.248T>A (p.Leu83Ter)
c.218T>A (p.Leu73Ter)
5g.149898476A>CCA361696298PDE6Ac.1294T>G (p.Leu432Val)
n.1383+899T>G
c.1051T>G (p.Leu351Val)
c.748T>G (p.Leu250Val)
c.409T>G (p.Leu137Val)
c.247T>G (p.Leu83Val)
c.217T>G (p.Leu73Val)
5g.149898476A>GCA447141548PDE6Ac.1294T>C (p.Leu432=)
n.1383+899T>C
c.1051T>C (p.Leu351=)
c.748T>C (p.Leu250=)
c.409T>C (p.Leu137=)
c.247T>C (p.Leu83=)
c.217T>C (p.Leu73=)
5g.149898476A>TCA361696299PDE6Ac.1294T>A (p.Leu432Ile)
n.1383+899T>A
c.1051T>A (p.Leu351Ile)
c.748T>A (p.Leu250Ile)
c.409T>A (p.Leu137Ile)
c.247T>A (p.Leu83Ile)
c.217T>A (p.Leu73Ile)
5g.149898477G>ACA447141549PDE6Ac.1293C>T (p.Val431=)
n.1383+898C>T
c.1050C>T (p.Val350=)
c.747C>T (p.Val249=)
c.408C>T (p.Val136=)
c.246C>T (p.Val82=)
c.216C>T (p.Val72=)
5g.149898477G>CCA447141551PDE6Ac.1293C>G (p.Val431=)
n.1383+898C>G
c.1050C>G (p.Val350=)
c.747C>G (p.Val249=)
c.408C>G (p.Val136=)
c.246C>G (p.Val82=)
c.216C>G (p.Val72=)
5g.149898477G>TCA447141550PDE6Ac.1293C>A (p.Val431=)
n.1383+898C>A
c.1050C>A (p.Val350=)
c.747C>A (p.Val249=)
c.408C>A (p.Val136=)
c.246C>A (p.Val82=)
c.216C>A (p.Val72=)
5g.149898478A>CCA361696302PDE6Ac.1292T>G (p.Val431Gly)
n.1383+897T>G
c.1049T>G (p.Val350Gly)
c.746T>G (p.Val249Gly)
c.407T>G (p.Val136Gly)
c.245T>G (p.Val82Gly)
c.215T>G (p.Val72Gly)
5g.149898478A>GCA361696300PDE6Ac.1292T>C (p.Val431Ala)
n.1383+897T>C
c.1049T>C (p.Val350Ala)
c.746T>C (p.Val249Ala)
c.407T>C (p.Val136Ala)
c.245T>C (p.Val82Ala)
c.215T>C (p.Val72Ala)
5g.149898478A>TCA361696301PDE6Ac.1292T>A (p.Val431Asp)
n.1383+897T>A
c.1049T>A (p.Val350Asp)
c.746T>A (p.Val249Asp)
c.407T>A (p.Val136Asp)
c.245T>A (p.Val82Asp)
c.215T>A (p.Val72Asp)
5g.149898479C>ACA361696303PDE6Ac.1291G>T (p.Val431Phe)
n.1383+896G>T
c.1048G>T (p.Val350Phe)
c.745G>T (p.Val249Phe)
c.406G>T (p.Val136Phe)
c.244G>T (p.Val82Phe)
c.214G>T (p.Val72Phe)
5g.149898479C=CA1590705341PDE6Ac.1291G= (p.Val431=)
n.1383+896G=
c.1048G= (p.Val350=)
c.745G= (p.Val249=)
c.406G= (p.Val136=)
c.244G= (p.Val82=)
c.214G= (p.Val72=)
5g.149898479C>GCA361696304PDE6Ac.1291G>C (p.Val431Leu)
n.1383+896G>C
c.1048G>C (p.Val350Leu)
c.745G>C (p.Val249Leu)
c.406G>C (p.Val136Leu)
c.244G>C (p.Val82Leu)
c.214G>C (p.Val72Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149898479C>TCA129072253PDE6Ac.1291G>A (p.Val431Ile)
n.1383+896G>A
c.1048G>A (p.Val350Ile)
c.745G>A (p.Val249Ile)
c.406G>A (p.Val136Ile)
c.244G>A (p.Val82Ile)
c.214G>A (p.Val72Ile)
 dbSNP gnomAD v4
5g.149898480A>CCA447141552PDE6Ac.1290T>G (p.Ser430=)
n.1383+895T>G
c.1047T>G (p.Ser349=)
c.744T>G (p.Ser248=)
c.405T>G (p.Ser135=)
c.243T>G (p.Ser81=)
c.213T>G (p.Ser71=)
5g.149898480A>GCA447141553PDE6Ac.1290T>C (p.Ser430=)
n.1383+895T>C
c.1047T>C (p.Ser349=)
c.744T>C (p.Ser248=)
c.405T>C (p.Ser135=)
c.243T>C (p.Ser81=)
c.213T>C (p.Ser71=)
5g.149898480A>TCA447141554PDE6Ac.1290T>A (p.Ser430=)
n.1383+895T>A
c.1047T>A (p.Ser349=)
c.744T>A (p.Ser248=)
c.405T>A (p.Ser135=)
c.243T>A (p.Ser81=)
c.213T>A (p.Ser71=)
5g.149898480_149898482dupCA2675941641PDE6Ac.1288_1290dup (p.Ser430_Val431insSer)
n.1383+893_1383+895dup
c.1045_1047dup (p.Ser349_Val350insSer)
c.742_744dup (p.Ser248_Val249insSer)
c.403_405dup (p.Ser135_Val136insSer)
c.241_243dup (p.Ser81_Val82insSer)
c.211_213dup (p.Ser71_Val72insSer)
 gnomAD v4
5g.149898481G>ACA361696305PDE6Ac.1289C>T (p.Ser430Phe)
n.1383+894C>T
c.1046C>T (p.Ser349Phe)
c.743C>T (p.Ser248Phe)
c.404C>T (p.Ser135Phe)
c.242C>T (p.Ser81Phe)
c.212C>T (p.Ser71Phe)
 dbSNP
5g.149898481G>CCA361696306PDE6Ac.1289C>G (p.Ser430Cys)
n.1383+894C>G
c.1046C>G (p.Ser349Cys)
c.743C>G (p.Ser248Cys)
c.404C>G (p.Ser135Cys)
c.242C>G (p.Ser81Cys)
c.212C>G (p.Ser71Cys)
5g.149898481G=CA1590705350PDE6Ac.1289C= (p.Ser430=)
n.1383+894C=
c.1046C= (p.Ser349=)
c.743C= (p.Ser248=)
c.404C= (p.Ser135=)
c.242C= (p.Ser81=)
c.212C= (p.Ser71=)
5g.149898481G>TCA361696307PDE6Ac.1289C>A (p.Ser430Tyr)
n.1383+894C>A
c.1046C>A (p.Ser349Tyr)
c.743C>A (p.Ser248Tyr)
c.404C>A (p.Ser135Tyr)
c.242C>A (p.Ser81Tyr)
c.212C>A (p.Ser71Tyr)
5g.149898482A>CCA361696308PDE6Ac.1288T>G (p.Ser430Ala)
n.1383+893T>G
c.1045T>G (p.Ser349Ala)
c.742T>G (p.Ser248Ala)
c.403T>G (p.Ser135Ala)
c.241T>G (p.Ser81Ala)
c.211T>G (p.Ser71Ala)
5g.149898482A>GCA361696309PDE6Ac.1288T>C (p.Ser430Pro)
n.1383+893T>C
c.1045T>C (p.Ser349Pro)
c.742T>C (p.Ser248Pro)
c.403T>C (p.Ser135Pro)
c.241T>C (p.Ser81Pro)
c.211T>C (p.Ser71Pro)
5g.149898482A>TCA361696310PDE6Ac.1288T>A (p.Ser430Thr)
n.1383+893T>A
c.1045T>A (p.Ser349Thr)
c.742T>A (p.Ser248Thr)
c.403T>A (p.Ser135Thr)
c.241T>A (p.Ser81Thr)
c.211T>A (p.Ser71Thr)
 gnomAD v4
5g.149898483C>ACA361696311PDE6Ac.1287G>T (p.Trp429Cys)
n.1383+892G>T
c.1044G>T (p.Trp348Cys)
c.741G>T (p.Trp247Cys)
c.402G>T (p.Trp134Cys)
c.240G>T (p.Trp80Cys)
c.210G>T (p.Trp70Cys)
5g.149898483C=CA1590705355PDE6Ac.1287G= (p.Trp429=)
n.1383+892G=
c.1044G= (p.Trp348=)
c.741G= (p.Trp247=)
c.402G= (p.Trp134=)
c.240G= (p.Trp80=)
c.210G= (p.Trp70=)
5g.149898483C>GCA361696312PDE6Ac.1287G>C (p.Trp429Cys)
n.1383+892G>C
c.1044G>C (p.Trp348Cys)
c.741G>C (p.Trp247Cys)
c.402G>C (p.Trp134Cys)
c.240G>C (p.Trp80Cys)
c.210G>C (p.Trp70Cys)
 gnomAD v4
5g.149898483C>TCA361696313PDE6Ac.1287G>A (p.Trp429Ter)
n.1383+892G>A
c.1044G>A (p.Trp348Ter)
c.741G>A (p.Trp247Ter)
c.402G>A (p.Trp134Ter)
c.240G>A (p.Trp80Ter)
c.210G>A (p.Trp70Ter)
 ClinVar dbSNP
5g.149898484C>ACA361696314PDE6Ac.1286G>T (p.Trp429Leu)
n.1383+891G>T
c.1043G>T (p.Trp348Leu)
c.740G>T (p.Trp247Leu)
c.401G>T (p.Trp134Leu)
c.239G>T (p.Trp80Leu)
c.209G>T (p.Trp70Leu)
 gnomAD v4
5g.149898484C=CA1590705360PDE6Ac.1286G= (p.Trp429=)
n.1383+891G=
c.1043G= (p.Trp348=)
c.740G= (p.Trp247=)
c.401G= (p.Trp134=)
c.239G= (p.Trp80=)
c.209G= (p.Trp70=)
5g.149898484C>GCA361696316PDE6Ac.1286G>C (p.Trp429Ser)
n.1383+891G>C
c.1043G>C (p.Trp348Ser)
c.740G>C (p.Trp247Ser)
c.401G>C (p.Trp134Ser)
c.239G>C (p.Trp80Ser)
c.209G>C (p.Trp70Ser)
5g.149898484C>TCA361696315PDE6Ac.1286G>A (p.Trp429Ter)
n.1383+891G>A
c.1043G>A (p.Trp348Ter)
c.740G>A (p.Trp247Ter)
c.401G>A (p.Trp134Ter)
c.239G>A (p.Trp80Ter)
c.209G>A (p.Trp70Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.149898485A>CCA361696317PDE6Ac.1285T>G (p.Trp429Gly)
n.1383+890T>G
c.1042T>G (p.Trp348Gly)
c.739T>G (p.Trp247Gly)
c.400T>G (p.Trp134Gly)
c.238T>G (p.Trp80Gly)
c.208T>G (p.Trp70Gly)
5g.149898485A>GCA361696318PDE6Ac.1285T>C (p.Trp429Arg)
n.1383+890T>C
c.1042T>C (p.Trp348Arg)
c.739T>C (p.Trp247Arg)
c.400T>C (p.Trp134Arg)
c.238T>C (p.Trp80Arg)
c.208T>C (p.Trp70Arg)
 gnomAD v4
5g.149898485A>TCA361696319PDE6Ac.1285T>A (p.Trp429Arg)
n.1383+890T>A
c.1042T>A (p.Trp348Arg)
c.739T>A (p.Trp247Arg)
c.400T>A (p.Trp134Arg)
c.238T>A (p.Trp80Arg)
c.208T>A (p.Trp70Arg)
5g.149898486G>ACA447141555PDE6Ac.1284C>T (p.Gly428=)
n.1383+889C>T
c.1041C>T (p.Gly347=)
c.738C>T (p.Gly246=)
c.399C>T (p.Gly133=)
c.237C>T (p.Gly79=)
c.207C>T (p.Gly69=)
5g.149898486G>CCA447141556PDE6Ac.1284C>G (p.Gly428=)
n.1383+889C>G
c.1041C>G (p.Gly347=)
c.738C>G (p.Gly246=)
c.399C>G (p.Gly133=)
c.237C>G (p.Gly79=)
c.207C>G (p.Gly69=)
5g.149898486G>TCA447141557PDE6Ac.1284C>A (p.Gly428=)
n.1383+889C>A
c.1041C>A (p.Gly347=)
c.738C>A (p.Gly246=)
c.399C>A (p.Gly133=)
c.237C>A (p.Gly79=)
c.207C>A (p.Gly69=)
5g.149898487C>ACA361696320PDE6Ac.1283G>T (p.Gly428Val)
n.1383+888G>T
c.1040G>T (p.Gly347Val)
c.737G>T (p.Gly246Val)
c.398G>T (p.Gly133Val)
c.236G>T (p.Gly79Val)
c.206G>T (p.Gly69Val)
5g.149898487C=CA1590705363PDE6Ac.1283G= (p.Gly428=)
n.1383+888G=
c.1040G= (p.Gly347=)
c.737G= (p.Gly246=)
c.398G= (p.Gly133=)
c.236G= (p.Gly79=)
c.206G= (p.Gly69=)
5g.149898487C>GCA361696321PDE6Ac.1283G>C (p.Gly428Ala)
n.1383+888G>C
c.1040G>C (p.Gly347Ala)
c.737G>C (p.Gly246Ala)
c.398G>C (p.Gly133Ala)
c.236G>C (p.Gly79Ala)
c.206G>C (p.Gly69Ala)
5g.149898487C>TCA3504733PDE6Ac.1283G>A (p.Gly428Asp)
n.1383+888G>A
c.1040G>A (p.Gly347Asp)
c.737G>A (p.Gly246Asp)
c.398G>A (p.Gly133Asp)
c.236G>A (p.Gly79Asp)
c.206G>A (p.Gly69Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898488C>ACA361696322PDE6Ac.1282G>T (p.Gly428Cys)
n.1383+887G>T
c.1039G>T (p.Gly347Cys)
c.736G>T (p.Gly246Cys)
c.397G>T (p.Gly133Cys)
c.235G>T (p.Gly79Cys)
c.205G>T (p.Gly69Cys)
 gnomAD v4 COSMIC
5g.149898488C>GCA361696323PDE6Ac.1282G>C (p.Gly428Arg)
n.1383+887G>C
c.1039G>C (p.Gly347Arg)
c.736G>C (p.Gly246Arg)
c.397G>C (p.Gly133Arg)
c.235G>C (p.Gly79Arg)
c.205G>C (p.Gly69Arg)
5g.149898488C>TCA361696324PDE6Ac.1282G>A (p.Gly428Ser)
n.1383+887G>A
c.1039G>A (p.Gly347Ser)
c.736G>A (p.Gly246Ser)
c.397G>A (p.Gly133Ser)
c.235G>A (p.Gly79Ser)
c.205G>A (p.Gly69Ser)
5g.149898489C>ACA447141558PDE6Ac.1281G>T (p.Leu427=)
n.1383+886G>T
c.1038G>T (p.Leu346=)
c.735G>T (p.Leu245=)
c.396G>T (p.Leu132=)
c.234G>T (p.Leu78=)
c.204G>T (p.Leu68=)
5g.149898489C>GCA447141559PDE6Ac.1281G>C (p.Leu427=)
n.1383+886G>C
c.1038G>C (p.Leu346=)
c.735G>C (p.Leu245=)
c.396G>C (p.Leu132=)
c.234G>C (p.Leu78=)
c.204G>C (p.Leu68=)
5g.149898489C>TCA447141560PDE6Ac.1281G>A (p.Leu427=)
n.1383+886G>A
c.1038G>A (p.Leu346=)
c.735G>A (p.Leu245=)
c.396G>A (p.Leu132=)
c.234G>A (p.Leu78=)
c.204G>A (p.Leu68=)
5g.149898490A>CCA361696325PDE6Ac.1280T>G (p.Leu427Arg)
n.1383+885T>G
c.1037T>G (p.Leu346Arg)
c.734T>G (p.Leu245Arg)
c.395T>G (p.Leu132Arg)
c.233T>G (p.Leu78Arg)
c.203T>G (p.Leu68Arg)
5g.149898490A>GCA361696326PDE6Ac.1280T>C (p.Leu427Pro)
n.1383+885T>C
c.1037T>C (p.Leu346Pro)
c.734T>C (p.Leu245Pro)
c.395T>C (p.Leu132Pro)
c.233T>C (p.Leu78Pro)
c.203T>C (p.Leu68Pro)
5g.149898490A>TCA361696327PDE6Ac.1280T>A (p.Leu427Gln)
n.1383+885T>A
c.1037T>A (p.Leu346Gln)
c.734T>A (p.Leu245Gln)
c.395T>A (p.Leu132Gln)
c.233T>A (p.Leu78Gln)
c.203T>A (p.Leu68Gln)
5g.149898491G>ACA447141561PDE6Ac.1279C>T (p.Leu427=)
n.1383+884C>T
c.1036C>T (p.Leu346=)
c.733C>T (p.Leu245=)
c.394C>T (p.Leu132=)
c.232C>T (p.Leu78=)
c.202C>T (p.Leu68=)
5g.149898491G>CCA361696329PDE6Ac.1279C>G (p.Leu427Val)
n.1383+884C>G
c.1036C>G (p.Leu346Val)
c.733C>G (p.Leu245Val)
c.394C>G (p.Leu132Val)
c.232C>G (p.Leu78Val)
c.202C>G (p.Leu68Val)
5g.149898491G>TCA361696328PDE6Ac.1279C>A (p.Leu427Met)
n.1383+884C>A
c.1036C>A (p.Leu346Met)
c.733C>A (p.Leu245Met)
c.394C>A (p.Leu132Met)
c.232C>A (p.Leu78Met)
c.202C>A (p.Leu68Met)
 COSMIC
5g.149898492A>CCA361696330PDE6Ac.1278T>G (p.Phe426Leu)
n.1383+883T>G
c.1035T>G (p.Phe345Leu)
c.732T>G (p.Phe244Leu)
c.393T>G (p.Phe131Leu)
c.231T>G (p.Phe77Leu)
c.201T>G (p.Phe67Leu)
5g.149898492A>GCA447141562PDE6Ac.1278T>C (p.Phe426=)
n.1383+883T>C
c.1035T>C (p.Phe345=)
c.732T>C (p.Phe244=)
c.393T>C (p.Phe131=)
c.231T>C (p.Phe77=)
c.201T>C (p.Phe67=)
5g.149898492A>TCA361696331PDE6Ac.1278T>A (p.Phe426Leu)
n.1383+883T>A
c.1035T>A (p.Phe345Leu)
c.732T>A (p.Phe244Leu)
c.393T>A (p.Phe131Leu)
c.231T>A (p.Phe77Leu)
c.201T>A (p.Phe67Leu)
 gnomAD v4
5g.149898493A=CA1590705364PDE6Ac.1277T= (p.Phe426=)
n.1383+882T=
c.1034T= (p.Phe345=)
c.731T= (p.Phe244=)
c.392T= (p.Phe131=)
c.230T= (p.Phe77=)
c.200T= (p.Phe67=)
5g.149898493A>CCA129072259PDE6Ac.1277T>G (p.Phe426Cys)
n.1383+882T>G
c.1034T>G (p.Phe345Cys)
c.731T>G (p.Phe244Cys)
c.392T>G (p.Phe131Cys)
c.230T>G (p.Phe77Cys)
c.200T>G (p.Phe67Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.149898493A>GCA361696332PDE6Ac.1277T>C (p.Phe426Ser)
n.1383+882T>C
c.1034T>C (p.Phe345Ser)
c.731T>C (p.Phe244Ser)
c.392T>C (p.Phe131Ser)
c.230T>C (p.Phe77Ser)
c.200T>C (p.Phe67Ser)
5g.149898493A>TCA361696333PDE6Ac.1277T>A (p.Phe426Tyr)
n.1383+882T>A
c.1034T>A (p.Phe345Tyr)
c.731T>A (p.Phe244Tyr)
c.392T>A (p.Phe131Tyr)
c.230T>A (p.Phe77Tyr)
c.200T>A (p.Phe67Tyr)
5g.149898494A>CCA361696334PDE6Ac.1276T>G (p.Phe426Val)
n.1383+881T>G
c.1033T>G (p.Phe345Val)
c.730T>G (p.Phe244Val)
c.391T>G (p.Phe131Val)
c.229T>G (p.Phe77Val)
c.199T>G (p.Phe67Val)
5g.149898494A>GCA361696335PDE6Ac.1276T>C (p.Phe426Leu)
n.1383+881T>C
c.1033T>C (p.Phe345Leu)
c.730T>C (p.Phe244Leu)
c.391T>C (p.Phe131Leu)
c.229T>C (p.Phe77Leu)
c.199T>C (p.Phe67Leu)
5g.149898494A>TCA361696336PDE6Ac.1276T>A (p.Phe426Ile)
n.1383+881T>A
c.1033T>A (p.Phe345Ile)
c.730T>A (p.Phe244Ile)
c.391T>A (p.Phe131Ile)
c.229T>A (p.Phe77Ile)
c.199T>A (p.Phe67Ile)
5g.149898495T>ACA3504734PDE6Ac.1275A>T (p.Gln425His)
n.1383+880A>T
c.1032A>T (p.Gln344His)
c.729A>T (p.Gln243His)
c.390A>T (p.Gln130His)
c.228A>T (p.Gln76His)
c.198A>T (p.Gln66His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149898495T>CCA447141563PDE6Ac.1275A>G (p.Gln425=)
n.1383+880A>G
c.1032A>G (p.Gln344=)
c.729A>G (p.Gln243=)
c.390A>G (p.Gln130=)
c.228A>G (p.Gln76=)
c.198A>G (p.Gln66=)
 dbSNP
5g.149898495T>GCA361696337PDE6Ac.1275A>C (p.Gln425His)
n.1383+880A>C
c.1032A>C (p.Gln344His)
c.729A>C (p.Gln243His)
c.390A>C (p.Gln130His)
c.228A>C (p.Gln76His)
c.198A>C (p.Gln66His)
5g.149898495T=CA1590705369PDE6Ac.1275A= (p.Gln425=)
n.1383+880A=
c.1032A= (p.Gln344=)
c.729A= (p.Gln243=)
c.390A= (p.Gln130=)
c.228A= (p.Gln76=)
c.198A= (p.Gln66=)
5g.149898496T>ACA361696338PDE6Ac.1274A>T (p.Gln425Leu)
n.1383+879A>T
c.1031A>T (p.Gln344Leu)
c.728A>T (p.Gln243Leu)
c.389A>T (p.Gln130Leu)
c.227A>T (p.Gln76Leu)
c.197A>T (p.Gln66Leu)
5g.149898496T>CCA361696339PDE6Ac.1274A>G (p.Gln425Arg)
n.1383+879A>G
c.1031A>G (p.Gln344Arg)
c.728A>G (p.Gln243Arg)
c.389A>G (p.Gln130Arg)
c.227A>G (p.Gln76Arg)
c.197A>G (p.Gln66Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.149898496T>GCA361696340PDE6Ac.1274A>C (p.Gln425Pro)
n.1383+879A>C
c.1031A>C (p.Gln344Pro)
c.728A>C (p.Gln243Pro)
c.389A>C (p.Gln130Pro)
c.227A>C (p.Gln76Pro)
c.197A>C (p.Gln66Pro)
5g.149898496T=CA1590705373PDE6Ac.1274A= (p.Gln425=)
n.1383+879A=
c.1031A= (p.Gln344=)
c.728A= (p.Gln243=)
c.389A= (p.Gln130=)
c.227A= (p.Gln76=)
c.197A= (p.Gln66=)
5g.149898497G>ACA361696343PDE6Ac.1273C>T (p.Gln425Ter)
n.1383+878C>T
c.1030C>T (p.Gln344Ter)
c.727C>T (p.Gln243Ter)
c.388C>T (p.Gln130Ter)
c.226C>T (p.Gln76Ter)
c.196C>T (p.Gln66Ter)
 COSMIC
5g.149898497G>CCA361696342PDE6Ac.1273C>G (p.Gln425Glu)
n.1383+878C>G
c.1030C>G (p.Gln344Glu)
c.727C>G (p.Gln243Glu)
c.388C>G (p.Gln130Glu)
c.226C>G (p.Gln76Glu)
c.196C>G (p.Gln66Glu)
5g.149898497G>TCA361696341PDE6Ac.1273C>A (p.Gln425Lys)
n.1383+878C>A
c.1030C>A (p.Gln344Lys)
c.727C>A (p.Gln243Lys)
c.388C>A (p.Gln130Lys)
c.226C>A (p.Gln76Lys)
c.196C>A (p.Gln66Lys)
5g.149898498A>CCA447141566PDE6Ac.1272T>G (p.Thr424=)
n.1383+877T>G
c.1029T>G (p.Thr343=)
c.726T>G (p.Thr242=)
c.387T>G (p.Thr129=)
c.225T>G (p.Thr75=)
c.195T>G (p.Thr65=)
5g.149898498A>GCA447141565PDE6Ac.1272T>C (p.Thr424=)
n.1383+877T>C
c.1029T>C (p.Thr343=)
c.726T>C (p.Thr242=)
c.387T>C (p.Thr129=)
c.225T>C (p.Thr75=)
c.195T>C (p.Thr65=)
5g.149898498A>TCA447141564PDE6Ac.1272T>A (p.Thr424=)
n.1383+877T>A
c.1029T>A (p.Thr343=)
c.726T>A (p.Thr242=)
c.387T>A (p.Thr129=)
c.225T>A (p.Thr75=)
c.195T>A (p.Thr65=)
5g.149898499G>ACA361696345PDE6Ac.1271C>T (p.Thr424Ile)
n.1383+876C>T
c.1028C>T (p.Thr343Ile)
c.725C>T (p.Thr242Ile)
c.386C>T (p.Thr129Ile)
c.224C>T (p.Thr75Ile)
c.194C>T (p.Thr65Ile)
5g.149898499G>CCA361696344PDE6Ac.1271C>G (p.Thr424Ser)
n.1383+876C>G
c.1028C>G (p.Thr343Ser)
c.725C>G (p.Thr242Ser)
c.386C>G (p.Thr129Ser)
c.224C>G (p.Thr75Ser)
c.194C>G (p.Thr65Ser)
5g.149898499G>TCA361696346PDE6Ac.1271C>A (p.Thr424Asn)
n.1383+876C>A
c.1028C>A (p.Thr343Asn)
c.725C>A (p.Thr242Asn)
c.386C>A (p.Thr129Asn)
c.224C>A (p.Thr75Asn)
c.194C>A (p.Thr65Asn)
5g.149898500T>ACA361696347PDE6Ac.1270A>T (p.Thr424Ser)
n.1383+875A>T
c.1027A>T (p.Thr343Ser)
c.724A>T (p.Thr242Ser)
c.385A>T (p.Thr129Ser)
c.223A>T (p.Thr75Ser)
c.193A>T (p.Thr65Ser)
 COSMIC
5g.149898500T>CCA129072261PDE6Ac.1270A>G (p.Thr424Ala)
n.1383+875A>G
c.1027A>G (p.Thr343Ala)
c.724A>G (p.Thr242Ala)
c.385A>G (p.Thr129Ala)
c.223A>G (p.Thr75Ala)
c.193A>G (p.Thr65Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.149898500T>GCA361696348PDE6Ac.1270A>C (p.Thr424Pro)
n.1383+875A>C
c.1027A>C (p.Thr343Pro)
c.724A>C (p.Thr242Pro)
c.385A>C (p.Thr129Pro)
c.223A>C (p.Thr75Pro)
c.193A>C (p.Thr65Pro)
5g.149898500T=CA1590705377PDE6Ac.1270A= (p.Thr424=)
n.1383+875A=
c.1027A= (p.Thr343=)
c.724A= (p.Thr242=)
c.385A= (p.Thr129=)
c.223A= (p.Thr75=)
c.193A= (p.Thr65=)
5g.149898501C>ACA361696349PDE6Ac.1269G>T (p.Leu423Phe)
n.1383+874G>T
c.1026G>T (p.Leu342Phe)
c.723G>T (p.Leu241Phe)
c.384G>T (p.Leu128Phe)
c.222G>T (p.Leu74Phe)
c.192G>T (p.Leu64Phe)
 gnomAD v4
5g.149898501C=CA1590705381PDE6Ac.1269G= (p.Leu423=)
n.1383+874G=
c.1026G= (p.Leu342=)
c.723G= (p.Leu241=)
c.384G= (p.Leu128=)
c.222G= (p.Leu74=)
c.192G= (p.Leu64=)
5g.149898501C>GCA361696350PDE6Ac.1269G>C (p.Leu423Phe)
n.1383+874G>C
c.1026G>C (p.Leu342Phe)
c.723G>C (p.Leu241Phe)
c.384G>C (p.Leu128Phe)
c.222G>C (p.Leu74Phe)
c.192G>C (p.Leu64Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.149898501C>TCA447141567PDE6Ac.1269G>A (p.Leu423=)
n.1383+874G>A
c.1026G>A (p.Leu342=)
c.723G>A (p.Leu241=)
c.384G>A (p.Leu128=)
c.222G>A (p.Leu74=)
c.192G>A (p.Leu64=)
5g.149898501_149898502delinsCACA1590705382PDE6Ac.1268_1269delinsTG (p.Leu423=)
n.1383+873_1383+874delinsTG
c.1025_1026delinsTG (p.Leu342=)
c.722_723delinsTG (p.Leu241=)
c.383_384delinsTG (p.Leu128=)
c.221_222delinsTG (p.Leu74=)
c.191_192delinsTG (p.Leu64=)
5g.149898502A>CCA361696351PDE6Ac.1268T>G (p.Leu423Trp)
n.1383+873T>G
c.1025T>G (p.Leu342Trp)
c.722T>G (p.Leu241Trp)
c.383T>G (p.Leu128Trp)
c.221T>G (p.Leu74Trp)
c.191T>G (p.Leu64Trp)
5g.149898502A>GCA361696352PDE6Ac.1268T>C (p.Leu423Ser)
n.1383+873T>C
c.1025T>C (p.Leu342Ser)
c.722T>C (p.Leu241Ser)
c.383T>C (p.Leu128Ser)
c.221T>C (p.Leu74Ser)
c.191T>C (p.Leu64Ser)
 gnomAD v4
5g.149898502A>TCA361696353PDE6Ac.1268T>A (p.Leu423Ter)
n.1383+873T>A
c.1025T>A (p.Leu342Ter)
c.722T>A (p.Leu241Ter)
c.383T>A (p.Leu128Ter)
c.221T>A (p.Leu74Ter)
c.191T>A (p.Leu64Ter)
5g.149898504delCA658796658PDE6Ac.1268del (p.Leu423Ter)
n.1383+873del
c.1025del (p.Leu342Ter)
c.722del (p.Leu241Ter)
c.383del (p.Leu128Ter)
c.221del (p.Leu74Ter)
c.191del (p.Leu64Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.149898503A>CCA361696354PDE6Ac.1267T>G (p.Leu423Val)
n.1383+872T>G
c.1024T>G (p.Leu342Val)
c.721T>G (p.Leu241Val)
c.382T>G (p.Leu128Val)
c.220T>G (p.Leu74Val)
c.190T>G (p.Leu64Val)
5g.149898503A>GCA447141568PDE6Ac.1267T>C (p.Leu423=)
n.1383+872T>C
c.1024T>C (p.Leu342=)
c.721T>C (p.Leu241=)
c.382T>C (p.Leu128=)
c.220T>C (p.Leu74=)
c.190T>C (p.Leu64=)
5g.149898503A>TCA361696355PDE6Ac.1267T>A (p.Leu423Met)
n.1383+872T>A
c.1024T>A (p.Leu342Met)
c.721T>A (p.Leu241Met)
c.382T>A (p.Leu128Met)
c.220T>A (p.Leu74Met)
c.190T>A (p.Leu64Met)
5g.149898504A>CCA447141569PDE6Ac.1266T>G (p.Ser422=)
n.1383+871T>G
c.1023T>G (p.Ser341=)
c.720T>G (p.Ser240=)
c.381T>G (p.Ser127=)
c.219T>G (p.Ser73=)
c.189T>G (p.Ser63=)
5g.149898504A>GCA447141571PDE6Ac.1266T>C (p.Ser422=)
n.1383+871T>C
c.1023T>C (p.Ser341=)
c.720T>C (p.Ser240=)
c.381T>C (p.Ser127=)
c.219T>C (p.Ser73=)
c.189T>C (p.Ser63=)
5g.149898504A>TCA447141570PDE6Ac.1266T>A (p.Ser422=)
n.1383+871T>A
c.1023T>A (p.Ser341=)
c.720T>A (p.Ser240=)
c.381T>A (p.Ser127=)
c.219T>A (p.Ser73=)
c.189T>A (p.Ser63=)
5g.149898505G>ACA361696356PDE6Ac.1265C>T (p.Ser422Phe)
n.1383+870C>T
c.1022C>T (p.Ser341Phe)
c.719C>T (p.Ser240Phe)
c.380C>T (p.Ser127Phe)
c.218C>T (p.Ser73Phe)
c.188C>T (p.Ser63Phe)
5g.149898505G>CCA361696357PDE6Ac.1265C>G (p.Ser422Cys)
n.1383+870C>G
c.1022C>G (p.Ser341Cys)
c.719C>G (p.Ser240Cys)
c.380C>G (p.Ser127Cys)
c.218C>G (p.Ser73Cys)
c.188C>G (p.Ser63Cys)
5g.149898505G>TCA361696358PDE6Ac.1265C>A (p.Ser422Tyr)
n.1383+870C>A
c.1022C>A (p.Ser341Tyr)
c.719C>A (p.Ser240Tyr)
c.380C>A (p.Ser127Tyr)
c.218C>A (p.Ser73Tyr)
c.188C>A (p.Ser63Tyr)
5g.149898506A=CA1590705392PDE6Ac.1264T= (p.Ser422=)
n.1383+869T=
c.1021T= (p.Ser341=)
c.718T= (p.Ser240=)
c.379T= (p.Ser127=)
c.217T= (p.Ser73=)
c.187T= (p.Ser63=)
5g.149898506A>CCA361696359PDE6Ac.1264T>G (p.Ser422Ala)
n.1383+869T>G
c.1021T>G (p.Ser341Ala)
c.718T>G (p.Ser240Ala)
c.379T>G (p.Ser127Ala)
c.217T>G (p.Ser73Ala)
c.187T>G (p.Ser63Ala)
5g.149898506A>GCA361696360PDE6Ac.1264T>C (p.Ser422Pro)
n.1383+869T>C
c.1021T>C (p.Ser341Pro)
c.718T>C (p.Ser240Pro)
c.379T>C (p.Ser127Pro)
c.217T>C (p.Ser73Pro)
c.187T>C (p.Ser63Pro)
 gnomAD v4
5g.149898506A>TCA3504735PDE6Ac.1264T>A (p.Ser422Thr)
n.1383+869T>A
c.1021T>A (p.Ser341Thr)
c.718T>A (p.Ser240Thr)
c.379T>A (p.Ser127Thr)
c.217T>A (p.Ser73Thr)
c.187T>A (p.Ser63Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.149898507C>ACA361696361PDE6Ac.1264-1G>T (n.1264-1G>T)
n.1383+868G>T
c.1021-1G>T (n.1021-1G>T)
c.718-1G>T (n.718-1G>T)
c.379-1G>T (n.379-1G>T)
c.217-1G>T (n.217-1G>T)
c.187-1G>T (n.187-1G>T)
5g.149898507C>GCA361696363PDE6Ac.1264-1G>C (n.1264-1G>C)
n.1383+868G>C
c.1021-1G>C (n.1021-1G>C)
c.718-1G>C (n.718-1G>C)
c.379-1G>C (n.379-1G>C)
c.217-1G>C (n.217-1G>C)
c.187-1G>C (n.187-1G>C)
5g.149898507C>TCA361696362PDE6Ac.1264-1G>A (n.1264-1G>A)
n.1383+868G>A
c.1021-1G>A (n.1021-1G>A)
c.718-1G>A (n.718-1G>A)
c.379-1G>A (n.379-1G>A)
c.217-1G>A (n.217-1G>A)
c.187-1G>A (n.187-1G>A)
5g.149898508T>ACA361696364PDE6Ac.1264-2A>T (n.1264-2A>T)
n.1383+867A>T
c.1021-2A>T (n.1021-2A>T)
c.718-2A>T (n.718-2A>T)
c.379-2A>T (n.379-2A>T)
c.217-2A>T (n.217-2A>T)
c.187-2A>T (n.187-2A>T)
5g.149898508T>CCA361696365PDE6Ac.1264-2A>G (n.1264-2A>G)
n.1383+867A>G
c.1021-2A>G (n.1021-2A>G)
c.718-2A>G (n.718-2A>G)
c.379-2A>G (n.379-2A>G)
c.217-2A>G (n.217-2A>G)
c.187-2A>G (n.187-2A>G)
5g.149898508T>GCA361696366PDE6Ac.1264-2A>C (n.1264-2A>C)
n.1383+867A>C
c.1021-2A>C (n.1021-2A>C)
c.718-2A>C (n.718-2A>C)
c.379-2A>C (n.379-2A>C)
c.217-2A>C (n.217-2A>C)
c.187-2A>C (n.187-2A>C)
5g.149898509G>ACA2675940130PDE6Ac.1264-3C>T (n.1264-3C>T)
n.1383+866C>T
c.1021-3C>T (n.1021-3C>T)
c.718-3C>T (n.718-3C>T)
c.379-3C>T (n.379-3C>T)
c.217-3C>T (n.217-3C>T)
c.187-3C>T (n.187-3C>T)
 gnomAD v4
5g.149898509G>CCA916082788PDE6Ac.1264-3C>G (n.1264-3C>G)
n.1383+866C>G
c.1021-3C>G (n.1021-3C>G)
c.718-3C>G (n.718-3C>G)
c.379-3C>G (n.379-3C>G)
c.217-3C>G (n.217-3C>G)
c.187-3C>G (n.187-3C>G)
 ClinVar dbSNP
5g.149898509G=CA1590705394PDE6Ac.1264-3C= (n.1264-3C=)
n.1383+866C=
c.1021-3C= (n.1021-3C=)
c.718-3C= (n.718-3C=)
c.379-3C= (n.379-3C=)
c.217-3C= (n.217-3C=)
c.187-3C= (n.187-3C=)
5g.149898509G>TCA2675940131PDE6Ac.1264-3C>A (n.1264-3C>A)
n.1383+866C>A
c.1021-3C>A (n.1021-3C>A)
c.718-3C>A (n.718-3C>A)
c.379-3C>A (n.379-3C>A)
c.217-3C>A (n.217-3C>A)
c.187-3C>A (n.187-3C>A)
 gnomAD v4
5g.149898514delCA2552774045PDE6Ac.1264-4del (n.1264-4del)
n.1383+865del
c.1021-4del (n.1021-4del)
c.718-4del (n.718-4del)
c.379-4del (n.379-4del)
c.217-4del (n.217-4del)
c.187-4del (n.187-4del)
 gnomAD v4
5g.149898513_149898514delCA2580073840PDE6Ac.1264-5_1264-4del (n.1264-5_1264-4del)
n.1383+864_1383+865del
c.1021-5_1021-4del (n.1021-5_1021-4del)
c.718-5_718-4del (n.718-5_718-4del)
c.379-5_379-4del (n.379-5_379-4del)
c.217-5_217-4del (n.217-5_217-4del)
c.187-5_187-4del (n.187-5_187-4del)
 ClinVar
5g.149898511A>GCA2675940135PDE6Ac.1264-5T>C (n.1264-5T>C)
n.1383+864T>C
c.1021-5T>C (n.1021-5T>C)
c.718-5T>C (n.718-5T>C)
c.379-5T>C (n.379-5T>C)
c.217-5T>C (n.217-5T>C)
c.187-5T>C (n.187-5T>C)
 gnomAD v4
5g.149898511_149898515delinsAAAAGCA1590705395PDE6Ac.1264-9_1264-5delinsCTTTT (n.1264-9_1264-5delinsCTTTT)
n.1383+860_1383+864delinsCTTTT
c.1021-9_1021-5delinsCTTTT (n.1021-9_1021-5delinsCTTTT)
c.718-9_718-5delinsCTTTT (n.718-9_718-5delinsCTTTT)
c.379-9_379-5delinsCTTTT (n.379-9_379-5delinsCTTTT)
c.217-9_217-5delinsCTTTT (n.217-9_217-5delinsCTTTT)
c.187-9_187-5delinsCTTTT (n.187-9_187-5delinsCTTTT)
5g.149898512A=CA1590705397PDE6Ac.1264-6T= (n.1264-6T=)
n.1383+863T=
c.1021-6T= (n.1021-6T=)
c.718-6T= (n.718-6T=)
c.379-6T= (n.379-6T=)
c.217-6T= (n.217-6T=)
c.187-6T= (n.187-6T=)
5g.149898512A>GCA2605373506PDE6Ac.1264-6T>C (n.1264-6T>C)
n.1383+863T>C
c.1021-6T>C (n.1021-6T>C)
c.718-6T>C (n.718-6T>C)
c.379-6T>C (n.379-6T>C)
c.217-6T>C (n.217-6T>C)
c.187-6T>C (n.187-6T>C)
 gnomAD v3 gnomAD v4
5g.149898512A>TCA563560559PDE6Ac.1264-6T>A (n.1264-6T>A)
n.1383+863T>A
c.1021-6T>A (n.1021-6T>A)
c.718-6T>A (n.718-6T>A)
c.379-6T>A (n.379-6T>A)
c.217-6T>A (n.217-6T>A)
c.187-6T>A (n.187-6T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149898520_149898523dupCA3504736PDE6Ac.1264-9_1264-6dup (n.1264-9_1264-6dup)
n.1383+860_1383+863dup
c.1021-9_1021-6dup (n.1021-9_1021-6dup)
c.718-9_718-6dup (n.718-9_718-6dup)
c.379-9_379-6dup (n.379-9_379-6dup)
c.217-9_217-6dup (n.217-9_217-6dup)
c.187-9_187-6dup (n.187-9_187-6dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149898520_149898523delCA3504737PDE6Ac.1264-9_1264-6del (n.1264-9_1264-6del)
n.1383+860_1383+863del
c.1021-9_1021-6del (n.1021-9_1021-6del)
c.718-9_718-6del (n.718-9_718-6del)
c.379-9_379-6del (n.379-9_379-6del)
c.217-9_217-6del (n.217-9_217-6del)
c.187-9_187-6del (n.187-9_187-6del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149898514A>GCA2502762451PDE6Ac.1264-8T>C (n.1264-8T>C)
n.1383+861T>C
c.1021-8T>C (n.1021-8T>C)
c.718-8T>C (n.718-8T>C)
c.379-8T>C (n.379-8T>C)
c.217-8T>C (n.217-8T>C)
c.187-8T>C (n.187-8T>C)
5g.149898515G>ACA2675940146PDE6Ac.1264-9C>T (n.1264-9C>T)
n.1383+860C>T
c.1021-9C>T (n.1021-9C>T)
c.718-9C>T (n.718-9C>T)
c.379-9C>T (n.379-9C>T)
c.217-9C>T (n.217-9C>T)
c.187-9C>T (n.187-9C>T)
 gnomAD v4
5g.149898517A>GCA2675940147PDE6Ac.1264-11T>C (n.1264-11T>C)
n.1383+858T>C
c.1021-11T>C (n.1021-11T>C)
c.718-11T>C (n.718-11T>C)
c.379-11T>C (n.379-11T>C)
c.217-11T>C (n.217-11T>C)
c.187-11T>C (n.187-11T>C)
 gnomAD v4

Number of alleles fetched