Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.177727667C>ACA430194945PDE11A,PDE11A-AS1c.2034G>T (p.Ala678=)
c.1284G>T (p.Ala428=)
c.702G>T (p.Ala234=)
c.960G>T (p.Ala320=)
c.857G>T
n.1076G>T
c.*35-395C>A (n.*35-395C>A)
 gnomAD v4
2g.177727667C=CA1310160751PDE11A,PDE11A-AS1c.2034G= (p.Ala678=)
c.1284G= (p.Ala428=)
c.702G= (p.Ala234=)
c.960G= (p.Ala320=)
c.857G=
n.1076G=
c.*35-395C= (n.*35-395C=)
2g.177727667C>GCA430194944PDE11A,PDE11A-AS1c.2034G>C (p.Ala678=)
c.1284G>C (p.Ala428=)
c.702G>C (p.Ala234=)
c.960G>C (p.Ala320=)
c.857G>C
n.1076G>C
c.*35-395C>G (n.*35-395C>G)
2g.177727667C>TCA1981724PDE11A,PDE11A-AS1c.2034G>A (p.Ala678=)
c.1284G>A (p.Ala428=)
c.702G>A (p.Ala234=)
c.960G>A (p.Ala320=)
c.857G>A
n.1076G>A
c.*35-395C>T (n.*35-395C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727668G>ACA61419403PDE11A,PDE11A-AS1c.2033C>T (p.Ala678Val)
c.1283C>T (p.Ala428Val)
c.701C>T (p.Ala234Val)
c.959C>T (p.Ala320Val)
c.856C>T
n.1075C>T
c.*35-394G>A (n.*35-394G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.177727668G>CCA349699633PDE11A,PDE11A-AS1c.2033C>G (p.Ala678Gly)
c.1283C>G (p.Ala428Gly)
c.701C>G (p.Ala234Gly)
c.959C>G (p.Ala320Gly)
c.856C>G
n.1075C>G
c.*35-394G>C (n.*35-394G>C)
2g.177727668G=CA1310160752PDE11A,PDE11A-AS1c.2033C= (p.Ala678=)
c.1283C= (p.Ala428=)
c.701C= (p.Ala234=)
c.959C= (p.Ala320=)
c.856C=
n.1075C=
c.*35-394G= (n.*35-394G=)
2g.177727668G>TCA349699634PDE11A,PDE11A-AS1c.2033C>A (p.Ala678Glu)
c.1283C>A (p.Ala428Glu)
c.701C>A (p.Ala234Glu)
c.959C>A (p.Ala320Glu)
c.856C>A
n.1075C>A
c.*35-394G>T (n.*35-394G>T)
 gnomAD v4
2g.177727669C>ACA349699635PDE11A,PDE11A-AS1c.2032G>T (p.Ala678Ser)
c.1282G>T (p.Ala428Ser)
c.700G>T (p.Ala234Ser)
c.958G>T (p.Ala320Ser)
c.855G>T
n.1074G>T
c.*35-393C>A (n.*35-393C>A)
2g.177727669C=CA1310160753PDE11A,PDE11A-AS1c.2032G= (p.Ala678=)
c.1282G= (p.Ala428=)
c.700G= (p.Ala234=)
c.958G= (p.Ala320=)
c.855G=
n.1074G=
c.*35-393C= (n.*35-393C=)
2g.177727669C>GCA349699636PDE11A,PDE11A-AS1c.2032G>C (p.Ala678Pro)
c.1282G>C (p.Ala428Pro)
c.700G>C (p.Ala234Pro)
c.958G>C (p.Ala320Pro)
c.855G>C
n.1074G>C
c.*35-393C>G (n.*35-393C>G)
2g.177727669C>TCA1981725PDE11A,PDE11A-AS1c.2032G>A (p.Ala678Thr)
c.1282G>A (p.Ala428Thr)
c.700G>A (p.Ala234Thr)
c.958G>A (p.Ala320Thr)
c.855G>A
n.1074G>A
c.*35-393C>T (n.*35-393C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727670G>ACA1981726PDE11A,PDE11A-AS1c.2031C>T (p.Phe677=)
c.1281C>T (p.Phe427=)
c.699C>T (p.Phe233=)
c.957C>T (p.Phe319=)
c.854C>T
n.1073C>T
c.*35-392G>A (n.*35-392G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.177727670G>CCA349699638PDE11A,PDE11A-AS1c.2031C>G (p.Phe677Leu)
c.1281C>G (p.Phe427Leu)
c.699C>G (p.Phe233Leu)
c.957C>G (p.Phe319Leu)
c.854C>G
n.1073C>G
c.*35-392G>C (n.*35-392G>C)
2g.177727670G=CA1310160754PDE11A,PDE11A-AS1c.2031C= (p.Phe677=)
c.1281C= (p.Phe427=)
c.699C= (p.Phe233=)
c.957C= (p.Phe319=)
c.854C=
n.1073C=
c.*35-392G= (n.*35-392G=)
2g.177727670G>TCA349699637PDE11A,PDE11A-AS1c.2031C>A (p.Phe677Leu)
c.1281C>A (p.Phe427Leu)
c.699C>A (p.Phe233Leu)
c.957C>A (p.Phe319Leu)
c.854C>A
n.1073C>A
c.*35-392G>T (n.*35-392G>T)
 dbSNP gnomAD v4
2g.177727671A>CCA349699639PDE11A,PDE11A-AS1c.2030T>G (p.Phe677Cys)
c.1280T>G (p.Phe427Cys)
c.698T>G (p.Phe233Cys)
c.956T>G (p.Phe319Cys)
c.853T>G
n.1072T>G
c.*35-391A>C (n.*35-391A>C)
2g.177727671A>GCA349699641PDE11A,PDE11A-AS1c.2030T>C (p.Phe677Ser)
c.1280T>C (p.Phe427Ser)
c.698T>C (p.Phe233Ser)
c.956T>C (p.Phe319Ser)
c.853T>C
n.1072T>C
c.*35-391A>G (n.*35-391A>G)
2g.177727671A>TCA349699640PDE11A,PDE11A-AS1c.2030T>A (p.Phe677Tyr)
c.1280T>A (p.Phe427Tyr)
c.698T>A (p.Phe233Tyr)
c.956T>A (p.Phe319Tyr)
c.853T>A
n.1072T>A
c.*35-391A>T (n.*35-391A>T)
2g.177727672A>CCA349699642PDE11A,PDE11A-AS1c.2029T>G (p.Phe677Val)
c.1279T>G (p.Phe427Val)
c.697T>G (p.Phe233Val)
c.955T>G (p.Phe319Val)
c.852T>G
n.1071T>G
c.*35-390A>C (n.*35-390A>C)
2g.177727672A>GCA349699643PDE11A,PDE11A-AS1c.2029T>C (p.Phe677Leu)
c.1279T>C (p.Phe427Leu)
c.697T>C (p.Phe233Leu)
c.955T>C (p.Phe319Leu)
c.852T>C
n.1071T>C
c.*35-390A>G (n.*35-390A>G)
2g.177727672A>TCA349699644PDE11A,PDE11A-AS1c.2029T>A (p.Phe677Ile)
c.1279T>A (p.Phe427Ile)
c.697T>A (p.Phe233Ile)
c.955T>A (p.Phe319Ile)
c.852T>A
n.1071T>A
c.*35-390A>T (n.*35-390A>T)
2g.177727673delCA2662092382PDE11A,PDE11A-AS1c.2028del (p.Met676IlefsTer5)
c.1278del (p.Met426IlefsTer5)
c.696del (p.Met232IlefsTer5)
c.954del (p.Met318IlefsTer5)
c.851del
n.1070del
c.*35-389del (n.*35-389del)
 gnomAD v4
2g.177727673C>ACA349699645PDE11A,PDE11A-AS1c.2028G>T (p.Met676Ile)
c.1278G>T (p.Met426Ile)
c.696G>T (p.Met232Ile)
c.954G>T (p.Met318Ile)
c.851G>T
n.1070G>T
c.*35-389C>A (n.*35-389C>A)
2g.177727673C=CA1310160755PDE11A,PDE11A-AS1c.2028G= (p.Met676=)
c.1278G= (p.Met426=)
c.696G= (p.Met232=)
c.954G= (p.Met318=)
c.851G=
n.1070G=
c.*35-389C= (n.*35-389C=)
2g.177727673C>GCA349699646PDE11A,PDE11A-AS1c.2028G>C (p.Met676Ile)
c.1278G>C (p.Met426Ile)
c.696G>C (p.Met232Ile)
c.954G>C (p.Met318Ile)
c.851G>C
n.1070G>C
c.*35-389C>G (n.*35-389C>G)
2g.177727673C>TCA349699647PDE11A,PDE11A-AS1c.2028G>A (p.Met676Ile)
c.1278G>A (p.Met426Ile)
c.696G>A (p.Met232Ile)
c.954G>A (p.Met318Ile)
c.851G>A
n.1070G>A
c.*35-389C>T (n.*35-389C>T)
 dbSNP gnomAD v4
2g.177727674A=CA1310160756PDE11A,PDE11A-AS1c.2027T= (p.Met676=)
c.1277T= (p.Met426=)
c.695T= (p.Met232=)
c.953T= (p.Met318=)
c.850T=
n.1069T=
c.*35-388A= (n.*35-388A=)
2g.177727674A>CCA1981727PDE11A,PDE11A-AS1c.2027T>G (p.Met676Arg)
c.1277T>G (p.Met426Arg)
c.695T>G (p.Met232Arg)
c.953T>G (p.Met318Arg)
c.850T>G
n.1069T>G
c.*35-388A>C (n.*35-388A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727674A>GCA349699648PDE11A,PDE11A-AS1c.2027T>C (p.Met676Thr)
c.1277T>C (p.Met426Thr)
c.695T>C (p.Met232Thr)
c.953T>C (p.Met318Thr)
c.850T>C
n.1069T>C
c.*35-388A>G (n.*35-388A>G)
2g.177727674A>TCA349699649PDE11A,PDE11A-AS1c.2027T>A (p.Met676Lys)
c.1277T>A (p.Met426Lys)
c.695T>A (p.Met232Lys)
c.953T>A (p.Met318Lys)
c.850T>A
n.1069T>A
c.*35-388A>T (n.*35-388A>T)
2g.177727675T>ACA349699650PDE11A,PDE11A-AS1c.2026A>T (p.Met676Leu)
c.1276A>T (p.Met426Leu)
c.694A>T (p.Met232Leu)
c.952A>T (p.Met318Leu)
c.849A>T
n.1068A>T
c.*35-387T>A (n.*35-387T>A)
2g.177727675T>CCA349699651PDE11A,PDE11A-AS1c.2026A>G (p.Met676Val)
c.1276A>G (p.Met426Val)
c.694A>G (p.Met232Val)
c.952A>G (p.Met318Val)
c.849A>G
n.1068A>G
c.*35-387T>C (n.*35-387T>C)
2g.177727675T>GCA349699652PDE11A,PDE11A-AS1c.2026A>C (p.Met676Leu)
c.1276A>C (p.Met426Leu)
c.694A>C (p.Met232Leu)
c.952A>C (p.Met318Leu)
c.849A>C
n.1068A>C
c.*35-387T>G (n.*35-387T>G)
2g.177727676C>ACA430194946PDE11A,PDE11A-AS1c.2025G>T (p.Leu675=)
c.1275G>T (p.Leu425=)
c.693G>T (p.Leu231=)
c.951G>T (p.Leu317=)
c.848G>T
n.1067G>T
c.*35-386C>A (n.*35-386C>A)
 gnomAD v4
2g.177727676C=CA1310160757PDE11A,PDE11A-AS1c.2025G= (p.Leu675=)
c.1275G= (p.Leu425=)
c.693G= (p.Leu231=)
c.951G= (p.Leu317=)
c.848G=
n.1067G=
c.*35-386C= (n.*35-386C=)
2g.177727676C>GCA430194947PDE11A,PDE11A-AS1c.2025G>C (p.Leu675=)
c.1275G>C (p.Leu425=)
c.693G>C (p.Leu231=)
c.951G>C (p.Leu317=)
c.848G>C
n.1067G>C
c.*35-386C>G (n.*35-386C>G)
2g.177727676C>TCA430194948PDE11A,PDE11A-AS1c.2025G>A (p.Leu675=)
c.1275G>A (p.Leu425=)
c.693G>A (p.Leu231=)
c.951G>A (p.Leu317=)
c.848G>A
n.1067G>A
c.*35-386C>T (n.*35-386C>T)
 dbSNP COSMIC COSMIC
2g.177727677A>CCA349699653PDE11A,PDE11A-AS1c.2024T>G (p.Leu675Arg)
c.1274T>G (p.Leu425Arg)
c.692T>G (p.Leu231Arg)
c.950T>G (p.Leu317Arg)
c.847T>G
n.1066T>G
c.*35-385A>C (n.*35-385A>C)
2g.177727677A>GCA349699655PDE11A,PDE11A-AS1c.2024T>C (p.Leu675Pro)
c.1274T>C (p.Leu425Pro)
c.692T>C (p.Leu231Pro)
c.950T>C (p.Leu317Pro)
c.847T>C
n.1066T>C
c.*35-385A>G (n.*35-385A>G)
2g.177727677A>TCA349699654PDE11A,PDE11A-AS1c.2024T>A (p.Leu675Gln)
c.1274T>A (p.Leu425Gln)
c.692T>A (p.Leu231Gln)
c.950T>A (p.Leu317Gln)
c.847T>A
n.1066T>A
c.*35-385A>T (n.*35-385A>T)
2g.177727678G>ACA430194949PDE11A,PDE11A-AS1c.2023C>T (p.Leu675=)
c.1273C>T (p.Leu425=)
c.691C>T (p.Leu231=)
c.949C>T (p.Leu317=)
c.846C>T
n.1065C>T
c.*35-384G>A (n.*35-384G>A)
2g.177727678G>CCA349699656PDE11A,PDE11A-AS1c.2023C>G (p.Leu675Val)
c.1273C>G (p.Leu425Val)
c.691C>G (p.Leu231Val)
c.949C>G (p.Leu317Val)
c.846C>G
n.1065C>G
c.*35-384G>C (n.*35-384G>C)
2g.177727678G>TCA349699657PDE11A,PDE11A-AS1c.2023C>A (p.Leu675Met)
c.1273C>A (p.Leu425Met)
c.691C>A (p.Leu231Met)
c.949C>A (p.Leu317Met)
c.846C>A
n.1065C>A
c.*35-384G>T (n.*35-384G>T)
 gnomAD v4
2g.177727679C>ACA349699658PDE11A,PDE11A-AS1c.2022G>T (p.Gln674His)
c.1272G>T (p.Gln424His)
c.690G>T (p.Gln230His)
c.948G>T (p.Gln316His)
c.845G>T
n.1064G>T
c.*35-383C>A (n.*35-383C>A)
2g.177727679C=CA1310160758PDE11A,PDE11A-AS1c.2022G= (p.Gln674=)
c.1272G= (p.Gln424=)
c.690G= (p.Gln230=)
c.948G= (p.Gln316=)
c.845G=
n.1064G=
c.*35-383C= (n.*35-383C=)
2g.177727679C>GCA349699659PDE11A,PDE11A-AS1c.2022G>C (p.Gln674His)
c.1272G>C (p.Gln424His)
c.690G>C (p.Gln230His)
c.948G>C (p.Gln316His)
c.845G>C
n.1064G>C
c.*35-383C>G (n.*35-383C>G)
 dbSNP
2g.177727679C>TCA430194950PDE11A,PDE11A-AS1c.2022G>A (p.Gln674=)
c.1272G>A (p.Gln424=)
c.690G>A (p.Gln230=)
c.948G>A (p.Gln316=)
c.845G>A
n.1064G>A
c.*35-383C>T (n.*35-383C>T)
2g.177727680T>ACA349699660PDE11A,PDE11A-AS1c.2021A>T (p.Gln674Leu)
c.1271A>T (p.Gln424Leu)
c.689A>T (p.Gln230Leu)
c.947A>T (p.Gln316Leu)
c.844A>T
n.1063A>T
c.*35-382T>A (n.*35-382T>A)
2g.177727680T>CCA349699661PDE11A,PDE11A-AS1c.2021A>G (p.Gln674Arg)
c.1271A>G (p.Gln424Arg)
c.689A>G (p.Gln230Arg)
c.947A>G (p.Gln316Arg)
c.844A>G
n.1063A>G
c.*35-382T>C (n.*35-382T>C)
2g.177727680T>GCA61419404PDE11A,PDE11A-AS1c.2021A>C (p.Gln674Pro)
c.1271A>C (p.Gln424Pro)
c.689A>C (p.Gln230Pro)
c.947A>C (p.Gln316Pro)
c.844A>C
n.1063A>C
c.*35-382T>G (n.*35-382T>G)
 dbSNP
2g.177727680T=CA1310160759PDE11A,PDE11A-AS1c.2021A= (p.Gln674=)
c.1271A= (p.Gln424=)
c.689A= (p.Gln230=)
c.947A= (p.Gln316=)
c.844A=
n.1063A=
c.*35-382T= (n.*35-382T=)
2g.177727681G>ACA349699662PDE11A,PDE11A-AS1c.2020C>T (p.Gln674Ter)
c.1270C>T (p.Gln424Ter)
c.688C>T (p.Gln230Ter)
c.946C>T (p.Gln316Ter)
c.843C>T
n.1062C>T
c.*35-381G>A (n.*35-381G>A)
2g.177727681G>CCA349699663PDE11A,PDE11A-AS1c.2020C>G (p.Gln674Glu)
c.1270C>G (p.Gln424Glu)
c.688C>G (p.Gln230Glu)
c.946C>G (p.Gln316Glu)
c.843C>G
n.1062C>G
c.*35-381G>C (n.*35-381G>C)
2g.177727681G>TCA349699664PDE11A,PDE11A-AS1c.2020C>A (p.Gln674Lys)
c.1270C>A (p.Gln424Lys)
c.688C>A (p.Gln230Lys)
c.946C>A (p.Gln316Lys)
c.843C>A
n.1062C>A
c.*35-381G>T (n.*35-381G>T)
 gnomAD v4 COSMIC COSMIC
2g.177727681_177727682delCA2577167906PDE11A,PDE11A-AS1c.2019_2020del (p.Cys673Ter)
c.1269_1270del (p.Cys423Ter)
c.687_688del (p.Cys229Ter)
c.945_946del (p.Cys315Ter)
c.842_843del
n.1061_1062del
c.*35-381_*35-380del (n.*35-381_*35-380del)
2g.177727682A=CA1310160760PDE11A,PDE11A-AS1c.2019T= (p.Cys673=)
c.1269T= (p.Cys423=)
c.687T= (p.Cys229=)
c.945T= (p.Cys315=)
c.842T=
n.1061T=
c.*35-380A= (n.*35-380A=)
2g.177727682A>CCA349699666PDE11A,PDE11A-AS1c.2019T>G (p.Cys673Trp)
c.1269T>G (p.Cys423Trp)
c.687T>G (p.Cys229Trp)
c.945T>G (p.Cys315Trp)
c.842T>G
n.1061T>G
c.*35-380A>C (n.*35-380A>C)
2g.177727682A>GCA61419405PDE11A,PDE11A-AS1c.2019T>C (p.Cys673=)
c.1269T>C (p.Cys423=)
c.687T>C (p.Cys229=)
c.945T>C (p.Cys315=)
c.842T>C
n.1061T>C
c.*35-380A>G (n.*35-380A>G)
 dbSNP
2g.177727682A>TCA349699665PDE11A,PDE11A-AS1c.2019T>A (p.Cys673Ter)
c.1269T>A (p.Cys423Ter)
c.687T>A (p.Cys229Ter)
c.945T>A (p.Cys315Ter)
c.842T>A
n.1061T>A
c.*35-380A>T (n.*35-380A>T)
2g.177727686_177727687delCA2662092383PDE11A,PDE11A-AS1c.2018_2019del (p.Cys673SerfsTer?)
c.1268_1269del (p.Cys423SerfsTer?)
c.686_687del (p.Cys229SerfsTer?)
c.944_945del (p.Cys315SerfsTer?)
c.841_842del
n.1060_1061del
c.*35-376_*35-375del (n.*35-376_*35-375del)
 gnomAD v4
2g.177727683C>ACA349699667PDE11A,PDE11A-AS1c.2018G>T (p.Cys673Phe)
c.1268G>T (p.Cys423Phe)
c.686G>T (p.Cys229Phe)
c.944G>T (p.Cys315Phe)
c.841G>T
n.1060G>T
c.*35-379C>A (n.*35-379C>A)
2g.177727683C>GCA349699668PDE11A,PDE11A-AS1c.2018G>C (p.Cys673Ser)
c.1268G>C (p.Cys423Ser)
c.686G>C (p.Cys229Ser)
c.944G>C (p.Cys315Ser)
c.841G>C
n.1060G>C
c.*35-379C>G (n.*35-379C>G)
2g.177727683C>TCA349699669PDE11A,PDE11A-AS1c.2018G>A (p.Cys673Tyr)
c.1268G>A (p.Cys423Tyr)
c.686G>A (p.Cys229Tyr)
c.944G>A (p.Cys315Tyr)
c.841G>A
n.1060G>A
c.*35-379C>T (n.*35-379C>T)
2g.177727684A>CCA349699670PDE11A,PDE11A-AS1c.2017T>G (p.Cys673Gly)
c.1267T>G (p.Cys423Gly)
c.685T>G (p.Cys229Gly)
c.943T>G (p.Cys315Gly)
c.840T>G
n.1059T>G
c.*35-378A>C (n.*35-378A>C)
2g.177727684A>GCA349699671PDE11A,PDE11A-AS1c.2017T>C (p.Cys673Arg)
c.1267T>C (p.Cys423Arg)
c.685T>C (p.Cys229Arg)
c.943T>C (p.Cys315Arg)
c.840T>C
n.1059T>C
c.*35-378A>G (n.*35-378A>G)
 gnomAD v4
2g.177727684A>TCA349699672PDE11A,PDE11A-AS1c.2017T>A (p.Cys673Ser)
c.1267T>A (p.Cys423Ser)
c.685T>A (p.Cys229Ser)
c.943T>A (p.Cys315Ser)
c.840T>A
n.1059T>A
c.*35-378A>T (n.*35-378A>T)
2g.177727685C>ACA430194953PDE11A,PDE11A-AS1c.2016G>T (p.Val672=)
c.1266G>T (p.Val422=)
c.684G>T (p.Val228=)
c.942G>T (p.Val314=)
c.839G>T
n.1058G>T
c.*35-377C>A (n.*35-377C>A)
 gnomAD v4
2g.177727685C>GCA430194955PDE11A,PDE11A-AS1c.2016G>C (p.Val672=)
c.1266G>C (p.Val422=)
c.684G>C (p.Val228=)
c.942G>C (p.Val314=)
c.839G>C
n.1058G>C
c.*35-377C>G (n.*35-377C>G)
2g.177727685C>TCA430194954PDE11A,PDE11A-AS1c.2016G>A (p.Val672=)
c.1266G>A (p.Val422=)
c.684G>A (p.Val228=)
c.942G>A (p.Val314=)
c.839G>A
n.1058G>A
c.*35-377C>T (n.*35-377C>T)
2g.177727686A>CCA349699673PDE11A,PDE11A-AS1c.2015T>G (p.Val672Gly)
c.1265T>G (p.Val422Gly)
c.683T>G (p.Val228Gly)
c.941T>G (p.Val314Gly)
c.838T>G
n.1057T>G
c.*35-376A>C (n.*35-376A>C)
2g.177727686A>GCA349699674PDE11A,PDE11A-AS1c.2015T>C (p.Val672Ala)
c.1265T>C (p.Val422Ala)
c.683T>C (p.Val228Ala)
c.941T>C (p.Val314Ala)
c.838T>C
n.1057T>C
c.*35-376A>G (n.*35-376A>G)
2g.177727686A>TCA349699675PDE11A,PDE11A-AS1c.2015T>A (p.Val672Glu)
c.1265T>A (p.Val422Glu)
c.683T>A (p.Val228Glu)
c.941T>A (p.Val314Glu)
c.838T>A
n.1057T>A
c.*35-376A>T (n.*35-376A>T)
2g.177727687C>ACA349699676PDE11A,PDE11A-AS1c.2014G>T (p.Val672Leu)
c.1264G>T (p.Val422Leu)
c.682G>T (p.Val228Leu)
c.940G>T (p.Val314Leu)
c.837G>T
n.1056G>T
c.*35-375C>A (n.*35-375C>A)
2g.177727687C=CA1310160761PDE11A,PDE11A-AS1c.2014G= (p.Val672=)
c.1264G= (p.Val422=)
c.682G= (p.Val228=)
c.940G= (p.Val314=)
c.837G=
n.1056G=
c.*35-375C= (n.*35-375C=)
2g.177727687C>GCA349699677PDE11A,PDE11A-AS1c.2014G>C (p.Val672Leu)
c.1264G>C (p.Val422Leu)
c.682G>C (p.Val228Leu)
c.940G>C (p.Val314Leu)
c.837G>C
n.1056G>C
c.*35-375C>G (n.*35-375C>G)
 gnomAD v4
2g.177727687C>TCA1981728PDE11A,PDE11A-AS1c.2014G>A (p.Val672Met)
c.1264G>A (p.Val422Met)
c.682G>A (p.Val228Met)
c.940G>A (p.Val314Met)
c.837G>A
n.1056G>A
c.*35-375C>T (n.*35-375C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727688G>ACA1981729PDE11A,PDE11A-AS1c.2013C>T (p.Asn671=)
c.1263C>T (p.Asn421=)
c.681C>T (p.Asn227=)
c.939C>T (p.Asn313=)
c.836C>T
n.1055C>T
c.*35-374G>A (n.*35-374G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727688G>CCA349699679PDE11A,PDE11A-AS1c.2013C>G (p.Asn671Lys)
c.1263C>G (p.Asn421Lys)
c.681C>G (p.Asn227Lys)
c.939C>G (p.Asn313Lys)
c.836C>G
n.1055C>G
c.*35-374G>C (n.*35-374G>C)
2g.177727688G=CA1310160762PDE11A,PDE11A-AS1c.2013C= (p.Asn671=)
c.1263C= (p.Asn421=)
c.681C= (p.Asn227=)
c.939C= (p.Asn313=)
c.836C=
n.1055C=
c.*35-374G= (n.*35-374G=)
2g.177727688G>TCA349699678PDE11A,PDE11A-AS1c.2013C>A (p.Asn671Lys)
c.1263C>A (p.Asn421Lys)
c.681C>A (p.Asn227Lys)
c.939C>A (p.Asn313Lys)
c.836C>A
n.1055C>A
c.*35-374G>T (n.*35-374G>T)
 gnomAD v4
2g.177727689T>ACA349699680PDE11A,PDE11A-AS1c.2012A>T (p.Asn671Ile)
c.1262A>T (p.Asn421Ile)
c.680A>T (p.Asn227Ile)
c.938A>T (p.Asn313Ile)
c.835A>T
n.1054A>T
c.*35-373T>A (n.*35-373T>A)
2g.177727689T>CCA349699681PDE11A,PDE11A-AS1c.2012A>G (p.Asn671Ser)
c.1262A>G (p.Asn421Ser)
c.680A>G (p.Asn227Ser)
c.938A>G (p.Asn313Ser)
c.835A>G
n.1054A>G
c.*35-373T>C (n.*35-373T>C)
 dbSNP
2g.177727689T>GCA349699682PDE11A,PDE11A-AS1c.2012A>C (p.Asn671Thr)
c.1262A>C (p.Asn421Thr)
c.680A>C (p.Asn227Thr)
c.938A>C (p.Asn313Thr)
c.835A>C
n.1054A>C
c.*35-373T>G (n.*35-373T>G)
2g.177727689T=CA1310160763PDE11A,PDE11A-AS1c.2012A= (p.Asn671=)
c.1262A= (p.Asn421=)
c.680A= (p.Asn227=)
c.938A= (p.Asn313=)
c.835A=
n.1054A=
c.*35-373T= (n.*35-373T=)
2g.177727690T>ACA349699683PDE11A,PDE11A-AS1c.2011A>T (p.Asn671Tyr)
c.1261A>T (p.Asn421Tyr)
c.679A>T (p.Asn227Tyr)
c.937A>T (p.Asn313Tyr)
c.834A>T
n.1053A>T
c.*35-372T>A (n.*35-372T>A)
2g.177727690T>CCA349699684PDE11A,PDE11A-AS1c.2011A>G (p.Asn671Asp)
c.1261A>G (p.Asn421Asp)
c.679A>G (p.Asn227Asp)
c.937A>G (p.Asn313Asp)
c.834A>G
n.1053A>G
c.*35-372T>C (n.*35-372T>C)
2g.177727690T>GCA349699685PDE11A,PDE11A-AS1c.2011A>C (p.Asn671His)
c.1261A>C (p.Asn421His)
c.679A>C (p.Asn227His)
c.937A>C (p.Asn313His)
c.834A>C
n.1053A>C
c.*35-372T>G (n.*35-372T>G)
2g.177727691G>ACA430194956PDE11A,PDE11A-AS1c.2010C>T (p.Phe670=)
c.1260C>T (p.Phe420=)
c.678C>T (p.Phe226=)
c.936C>T (p.Phe312=)
c.833C>T
n.1052C>T
c.*35-371G>A (n.*35-371G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.177727691G>CCA349699686PDE11A,PDE11A-AS1c.2010C>G (p.Phe670Leu)
c.1260C>G (p.Phe420Leu)
c.678C>G (p.Phe226Leu)
c.936C>G (p.Phe312Leu)
c.833C>G
n.1052C>G
c.*35-371G>C (n.*35-371G>C)
2g.177727691G=CA1310160764PDE11A,PDE11A-AS1c.2010C= (p.Phe670=)
c.1260C= (p.Phe420=)
c.678C= (p.Phe226=)
c.936C= (p.Phe312=)
c.833C=
n.1052C=
c.*35-371G= (n.*35-371G=)
2g.177727691G>TCA349699687PDE11A,PDE11A-AS1c.2010C>A (p.Phe670Leu)
c.1260C>A (p.Phe420Leu)
c.678C>A (p.Phe226Leu)
c.936C>A (p.Phe312Leu)
c.833C>A
n.1052C>A
c.*35-371G>T (n.*35-371G>T)
2g.177727692A>CCA349699688PDE11A,PDE11A-AS1c.2009T>G (p.Phe670Cys)
c.1259T>G (p.Phe420Cys)
c.677T>G (p.Phe226Cys)
c.935T>G (p.Phe312Cys)
c.832T>G
n.1051T>G
c.*35-370A>C (n.*35-370A>C)
2g.177727692A>GCA349699689PDE11A,PDE11A-AS1c.2009T>C (p.Phe670Ser)
c.1259T>C (p.Phe420Ser)
c.677T>C (p.Phe226Ser)
c.935T>C (p.Phe312Ser)
c.832T>C
n.1051T>C
c.*35-370A>G (n.*35-370A>G)
2g.177727692A>TCA349699690PDE11A,PDE11A-AS1c.2009T>A (p.Phe670Tyr)
c.1259T>A (p.Phe420Tyr)
c.677T>A (p.Phe226Tyr)
c.935T>A (p.Phe312Tyr)
c.832T>A
n.1051T>A
c.*35-370A>T (n.*35-370A>T)
2g.177727693A>CCA349699691PDE11A,PDE11A-AS1c.2008T>G (p.Phe670Val)
c.1258T>G (p.Phe420Val)
c.676T>G (p.Phe226Val)
c.934T>G (p.Phe312Val)
c.831T>G
n.1050T>G
c.*35-369A>C (n.*35-369A>C)
2g.177727693A>GCA349699692PDE11A,PDE11A-AS1c.2008T>C (p.Phe670Leu)
c.1258T>C (p.Phe420Leu)
c.676T>C (p.Phe226Leu)
c.934T>C (p.Phe312Leu)
c.831T>C
n.1050T>C
c.*35-369A>G (n.*35-369A>G)
2g.177727693A>TCA349699693PDE11A,PDE11A-AS1c.2008T>A (p.Phe670Ile)
c.1258T>A (p.Phe420Ile)
c.676T>A (p.Phe226Ile)
c.934T>A (p.Phe312Ile)
c.831T>A
n.1050T>A
c.*35-369A>T (n.*35-369A>T)
2g.177727694G>ACA430194957PDE11A,PDE11A-AS1c.2007C>T (p.Ala669=)
c.1257C>T (p.Ala419=)
c.675C>T (p.Ala225=)
c.933C>T (p.Ala311=)
c.830C>T
n.1049C>T
c.*35-368G>A (n.*35-368G>A)
 gnomAD v4
2g.177727694G>CCA430194958PDE11A,PDE11A-AS1c.2007C>G (p.Ala669=)
c.1257C>G (p.Ala419=)
c.675C>G (p.Ala225=)
c.933C>G (p.Ala311=)
c.830C>G
n.1049C>G
c.*35-368G>C (n.*35-368G>C)
2g.177727694G>TCA430194959PDE11A,PDE11A-AS1c.2007C>A (p.Ala669=)
c.1257C>A (p.Ala419=)
c.675C>A (p.Ala225=)
c.933C>A (p.Ala311=)
c.830C>A
n.1049C>A
c.*35-368G>T (n.*35-368G>T)
2g.177727695G>ACA349699695PDE11A,PDE11A-AS1c.2006C>T (p.Ala669Val)
c.1256C>T (p.Ala419Val)
c.674C>T (p.Ala225Val)
c.932C>T (p.Ala311Val)
c.829C>T
n.1048C>T
c.*35-367G>A (n.*35-367G>A)
 gnomAD v4
2g.177727695G>CCA349699696PDE11A,PDE11A-AS1c.2006C>G (p.Ala669Gly)
c.1256C>G (p.Ala419Gly)
c.674C>G (p.Ala225Gly)
c.932C>G (p.Ala311Gly)
c.829C>G
n.1048C>G
c.*35-367G>C (n.*35-367G>C)
2g.177727695G>TCA349699694PDE11A,PDE11A-AS1c.2006C>A (p.Ala669Asp)
c.1256C>A (p.Ala419Asp)
c.674C>A (p.Ala225Asp)
c.932C>A (p.Ala311Asp)
c.829C>A
n.1048C>A
c.*35-367G>T (n.*35-367G>T)
 gnomAD v4
2g.177727696C>ACA349699698PDE11A,PDE11A-AS1c.2005G>T (p.Ala669Ser)
c.1255G>T (p.Ala419Ser)
c.673G>T (p.Ala225Ser)
c.931G>T (p.Ala311Ser)
c.828G>T
n.1047G>T
c.*35-366C>A (n.*35-366C>A)
2g.177727696C>GCA349699697PDE11A,PDE11A-AS1c.2005G>C (p.Ala669Pro)
c.1255G>C (p.Ala419Pro)
c.673G>C (p.Ala225Pro)
c.931G>C (p.Ala311Pro)
c.828G>C
n.1047G>C
c.*35-366C>G (n.*35-366C>G)
2g.177727696C>TCA349699699PDE11A,PDE11A-AS1c.2005G>A (p.Ala669Thr)
c.1255G>A (p.Ala419Thr)
c.673G>A (p.Ala225Thr)
c.931G>A (p.Ala311Thr)
c.828G>A
n.1047G>A
c.*35-366C>T (n.*35-366C>T)
 ClinVar
2g.177727697A>CCA349699700PDE11A,PDE11A-AS1c.2004T>G (p.His668Gln)
c.1254T>G (p.His418Gln)
c.672T>G (p.His224Gln)
c.930T>G (p.His310Gln)
c.827T>G
n.1046T>G
c.*35-365A>C (n.*35-365A>C)
2g.177727697A>GCA430194961PDE11A,PDE11A-AS1c.2004T>C (p.His668=)
c.1254T>C (p.His418=)
c.672T>C (p.His224=)
c.930T>C (p.His310=)
c.827T>C
n.1046T>C
c.*35-365A>G (n.*35-365A>G)
 gnomAD v4
2g.177727697A>TCA349699701PDE11A,PDE11A-AS1c.2004T>A (p.His668Gln)
c.1254T>A (p.His418Gln)
c.672T>A (p.His224Gln)
c.930T>A (p.His310Gln)
c.827T>A
n.1046T>A
c.*35-365A>T (n.*35-365A>T)
 gnomAD v4
2g.177727698T>ACA1981730PDE11A,PDE11A-AS1c.2003A>T (p.His668Leu)
c.1253A>T (p.His418Leu)
c.671A>T (p.His224Leu)
c.929A>T (p.His310Leu)
c.826A>T
n.1045A>T
c.*35-364T>A (n.*35-364T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727698T>CCA1981731PDE11A,PDE11A-AS1c.2003A>G (p.His668Arg)
c.1253A>G (p.His418Arg)
c.671A>G (p.His224Arg)
c.929A>G (p.His310Arg)
c.826A>G
n.1045A>G
c.*35-364T>C (n.*35-364T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727698T>GCA349699702PDE11A,PDE11A-AS1c.2003A>C (p.His668Pro)
c.1253A>C (p.His418Pro)
c.671A>C (p.His224Pro)
c.929A>C (p.His310Pro)
c.826A>C
n.1045A>C
c.*35-364T>G (n.*35-364T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.177727698T=CA1310160765PDE11A,PDE11A-AS1c.2003A= (p.His668=)
c.1253A= (p.His418=)
c.671A= (p.His224=)
c.929A= (p.His310=)
c.826A=
n.1045A=
c.*35-364T= (n.*35-364T=)
2g.177727699G>ACA349699703PDE11A,PDE11A-AS1c.2002C>T (p.His668Tyr)
c.1252C>T (p.His418Tyr)
c.670C>T (p.His224Tyr)
c.928C>T (p.His310Tyr)
c.825C>T
n.1044C>T
c.*35-363G>A (n.*35-363G>A)
2g.177727699G>CCA349699704PDE11A,PDE11A-AS1c.2002C>G (p.His668Asp)
c.1252C>G (p.His418Asp)
c.670C>G (p.His224Asp)
c.928C>G (p.His310Asp)
c.825C>G
n.1044C>G
c.*35-363G>C (n.*35-363G>C)
2g.177727699G>TCA349699705PDE11A,PDE11A-AS1c.2002C>A (p.His668Asn)
c.1252C>A (p.His418Asn)
c.670C>A (p.His224Asn)
c.928C>A (p.His310Asn)
c.825C>A
n.1044C>A
c.*35-363G>T (n.*35-363G>T)
2g.177727700T>ACA349699706PDE11A,PDE11A-AS1c.2001A>T (p.Arg667Ser)
c.1251A>T (p.Arg417Ser)
c.669A>T (p.Arg223Ser)
c.927A>T (p.Arg309Ser)
c.824A>T
n.1043A>T
c.*35-362T>A (n.*35-362T>A)
2g.177727700T>CCA430194963PDE11A,PDE11A-AS1c.2001A>G (p.Arg667=)
c.1251A>G (p.Arg417=)
c.669A>G (p.Arg223=)
c.927A>G (p.Arg309=)
c.824A>G
n.1043A>G
c.*35-362T>C (n.*35-362T>C)
2g.177727700T>GCA349699707PDE11A,PDE11A-AS1c.2001A>C (p.Arg667Ser)
c.1251A>C (p.Arg417Ser)
c.669A>C (p.Arg223Ser)
c.927A>C (p.Arg309Ser)
c.824A>C
n.1043A>C
c.*35-362T>G (n.*35-362T>G)
2g.177727701C>ACA349699708PDE11A,PDE11A-AS1c.2000G>T (p.Arg667Ile)
c.1250G>T (p.Arg417Ile)
c.668G>T (p.Arg223Ile)
c.926G>T (p.Arg309Ile)
c.823G>T
n.1042G>T
c.*35-361C>A (n.*35-361C>A)
2g.177727701C>GCA349699709PDE11A,PDE11A-AS1c.2000G>C (p.Arg667Thr)
c.1250G>C (p.Arg417Thr)
c.668G>C (p.Arg223Thr)
c.926G>C (p.Arg309Thr)
c.823G>C
n.1042G>C
c.*35-361C>G (n.*35-361C>G)
2g.177727701C>TCA349699710PDE11A,PDE11A-AS1c.2000G>A (p.Arg667Lys)
c.1250G>A (p.Arg417Lys)
c.668G>A (p.Arg223Lys)
c.926G>A (p.Arg309Lys)
c.823G>A
n.1042G>A
c.*35-361C>T (n.*35-361C>T)
2g.177727702T>ACA349699712PDE11A,PDE11A-AS1c.1999A>T (p.Arg667Ter)
c.1249A>T (p.Arg417Ter)
c.667A>T (p.Arg223Ter)
c.925A>T (p.Arg309Ter)
c.822A>T
n.1041A>T
c.*35-360T>A (n.*35-360T>A)
2g.177727702T>CCA349699711PDE11A,PDE11A-AS1c.1999A>G (p.Arg667Gly)
c.1249A>G (p.Arg417Gly)
c.667A>G (p.Arg223Gly)
c.925A>G (p.Arg309Gly)
c.822A>G
n.1041A>G
c.*35-360T>C (n.*35-360T>C)
2g.177727702T>GCA430194964PDE11A,PDE11A-AS1c.1999A>C (p.Arg667=)
c.1249A>C (p.Arg417=)
c.667A>C (p.Arg223=)
c.925A>C (p.Arg309=)
c.822A>C
n.1041A>C
c.*35-360T>G (n.*35-360T>G)
2g.177727703C>ACA349699713PDE11A,PDE11A-AS1c.1998G>T (p.Trp666Cys)
c.1248G>T (p.Trp416Cys)
c.666G>T (p.Trp222Cys)
c.924G>T (p.Trp308Cys)
c.821G>T
n.1040G>T
c.*35-359C>A (n.*35-359C>A)
 gnomAD v4
2g.177727703C>GCA349699714PDE11A,PDE11A-AS1c.1998G>C (p.Trp666Cys)
c.1248G>C (p.Trp416Cys)
c.666G>C (p.Trp222Cys)
c.924G>C (p.Trp308Cys)
c.821G>C
n.1040G>C
c.*35-359C>G (n.*35-359C>G)
 gnomAD v4
2g.177727703C>TCA349699715PDE11A,PDE11A-AS1c.1998G>A (p.Trp666Ter)
c.1248G>A (p.Trp416Ter)
c.666G>A (p.Trp222Ter)
c.924G>A (p.Trp308Ter)
c.821G>A
n.1040G>A
c.*35-359C>T (n.*35-359C>T)
2g.177727704C>ACA349699716PDE11A,PDE11A-AS1c.1997G>T (p.Trp666Leu)
c.1247G>T (p.Trp416Leu)
c.665G>T (p.Trp222Leu)
c.923G>T (p.Trp308Leu)
c.820G>T
n.1039G>T
c.*35-358C>A (n.*35-358C>A)
2g.177727704C=CA1310160766PDE11A,PDE11A-AS1c.1997G= (p.Trp666=)
c.1247G= (p.Trp416=)
c.665G= (p.Trp222=)
c.923G= (p.Trp308=)
c.820G=
n.1039G=
c.*35-358C= (n.*35-358C=)
2g.177727704C>GCA349699717PDE11A,PDE11A-AS1c.1997G>C (p.Trp666Ser)
c.1247G>C (p.Trp416Ser)
c.665G>C (p.Trp222Ser)
c.923G>C (p.Trp308Ser)
c.820G>C
n.1039G>C
c.*35-358C>G (n.*35-358C>G)
2g.177727704C>TCA349699718PDE11A,PDE11A-AS1c.1997G>A (p.Trp666Ter)
c.1247G>A (p.Trp416Ter)
c.665G>A (p.Trp222Ter)
c.923G>A (p.Trp308Ter)
c.820G>A
n.1039G>A
c.*35-358C>T (n.*35-358C>T)
 dbSNP gnomAD v4
2g.177727705A=CA1310160767PDE11A,PDE11A-AS1c.1996T= (p.Trp666=)
c.1246T= (p.Trp416=)
c.664T= (p.Trp222=)
c.922T= (p.Trp308=)
c.819T=
n.1038T=
c.*35-357A= (n.*35-357A=)
2g.177727705A>CCA349699719PDE11A,PDE11A-AS1c.1996T>G (p.Trp666Gly)
c.1246T>G (p.Trp416Gly)
c.664T>G (p.Trp222Gly)
c.922T>G (p.Trp308Gly)
c.819T>G
n.1038T>G
c.*35-357A>C (n.*35-357A>C)
2g.177727705A>GCA1981732PDE11A,PDE11A-AS1c.1996T>C (p.Trp666Arg)
c.1246T>C (p.Trp416Arg)
c.664T>C (p.Trp222Arg)
c.922T>C (p.Trp308Arg)
c.819T>C
n.1038T>C
c.*35-357A>G (n.*35-357A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727705A>TCA349699720PDE11A,PDE11A-AS1c.1996T>A (p.Trp666Arg)
c.1246T>A (p.Trp416Arg)
c.664T>A (p.Trp222Arg)
c.922T>A (p.Trp308Arg)
c.819T>A
n.1038T>A
c.*35-357A>T (n.*35-357A>T)
2g.177727705dupCA2662092384PDE11A,PDE11A-AS1c.1996dup (p.Trp666LeufsTer?)
c.1246dup (p.Trp416LeufsTer?)
c.664dup (p.Trp222LeufsTer?)
c.922dup (p.Trp308LeufsTer?)
c.819dup
n.1038dup
c.*35-357dup (n.*35-357dup)
 gnomAD v4
2g.177727706G>ACA430194966PDE11A,PDE11A-AS1c.1995C>T (p.Asn665=)
c.1245C>T (p.Asn415=)
c.663C>T (p.Asn221=)
c.921C>T (p.Asn307=)
c.818C>T
n.1037C>T
c.*35-356G>A (n.*35-356G>A)
 dbSNP
2g.177727706G>CCA349699721PDE11A,PDE11A-AS1c.1995C>G (p.Asn665Lys)
c.1245C>G (p.Asn415Lys)
c.663C>G (p.Asn221Lys)
c.921C>G (p.Asn307Lys)
c.818C>G
n.1037C>G
c.*35-356G>C (n.*35-356G>C)
2g.177727706G=CA1310160768PDE11A,PDE11A-AS1c.1995C= (p.Asn665=)
c.1245C= (p.Asn415=)
c.663C= (p.Asn221=)
c.921C= (p.Asn307=)
c.818C=
n.1037C=
c.*35-356G= (n.*35-356G=)
2g.177727706G>TCA349699722PDE11A,PDE11A-AS1c.1995C>A (p.Asn665Lys)
c.1245C>A (p.Asn415Lys)
c.663C>A (p.Asn221Lys)
c.921C>A (p.Asn307Lys)
c.818C>A
n.1037C>A
c.*35-356G>T (n.*35-356G>T)
2g.177727707T>ACA349699724PDE11A,PDE11A-AS1c.1994A>T (p.Asn665Ile)
c.1244A>T (p.Asn415Ile)
c.662A>T (p.Asn221Ile)
c.920A>T (p.Asn307Ile)
c.817A>T
n.1036A>T
c.*35-355T>A (n.*35-355T>A)
2g.177727707T>CCA349699725PDE11A,PDE11A-AS1c.1994A>G (p.Asn665Ser)
c.1244A>G (p.Asn415Ser)
c.662A>G (p.Asn221Ser)
c.920A>G (p.Asn307Ser)
c.817A>G
n.1036A>G
c.*35-355T>C (n.*35-355T>C)
2g.177727707T>GCA349699723PDE11A,PDE11A-AS1c.1994A>C (p.Asn665Thr)
c.1244A>C (p.Asn415Thr)
c.662A>C (p.Asn221Thr)
c.920A>C (p.Asn307Thr)
c.817A>C
n.1036A>C
c.*35-355T>G (n.*35-355T>G)
2g.177727708T>ACA349699726PDE11A,PDE11A-AS1c.1993A>T (p.Asn665Tyr)
c.1243A>T (p.Asn415Tyr)
c.661A>T (p.Asn221Tyr)
c.919A>T (p.Asn307Tyr)
c.816A>T
n.1035A>T
c.*35-354T>A (n.*35-354T>A)
2g.177727708T>CCA349699727PDE11A,PDE11A-AS1c.1993A>G (p.Asn665Asp)
c.1243A>G (p.Asn415Asp)
c.661A>G (p.Asn221Asp)
c.919A>G (p.Asn307Asp)
c.816A>G
n.1035A>G
c.*35-354T>C (n.*35-354T>C)
 gnomAD v4
2g.177727708T>GCA349699728PDE11A,PDE11A-AS1c.1993A>C (p.Asn665His)
c.1243A>C (p.Asn415His)
c.661A>C (p.Asn221His)
c.919A>C (p.Asn307His)
c.816A>C
n.1035A>C
c.*35-354T>G (n.*35-354T>G)
2g.177727709G>ACA1981734PDE11A,PDE11A-AS1c.1992C>T (p.His664=)
c.1242C>T (p.His414=)
c.660C>T (p.His220=)
c.918C>T (p.His306=)
c.815C>T
n.1034C>T
c.*35-353G>A (n.*35-353G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727709G>CCA1981733PDE11A,PDE11A-AS1c.1992C>G (p.His664Gln)
c.1242C>G (p.His414Gln)
c.660C>G (p.His220Gln)
c.918C>G (p.His306Gln)
c.815C>G
n.1034C>G
c.*35-353G>C (n.*35-353G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727709G=CA1310160769PDE11A,PDE11A-AS1c.1992C= (p.His664=)
c.1242C= (p.His414=)
c.660C= (p.His220=)
c.918C= (p.His306=)
c.815C=
n.1034C=
c.*35-353G= (n.*35-353G=)
2g.177727709G>TCA349699729PDE11A,PDE11A-AS1c.1992C>A (p.His664Gln)
c.1242C>A (p.His414Gln)
c.660C>A (p.His220Gln)
c.918C>A (p.His306Gln)
c.815C>A
n.1034C>A
c.*35-353G>T (n.*35-353G>T)
2g.177727710T>ACA349699730PDE11A,PDE11A-AS1c.1991A>T (p.His664Leu)
c.1241A>T (p.His414Leu)
c.659A>T (p.His220Leu)
c.917A>T (p.His306Leu)
c.814A>T
n.1033A>T
c.*35-352T>A (n.*35-352T>A)
2g.177727710T>CCA1981735PDE11A,PDE11A-AS1c.1991A>G (p.His664Arg)
c.1241A>G (p.His414Arg)
c.659A>G (p.His220Arg)
c.917A>G (p.His306Arg)
c.814A>G
n.1033A>G
c.*35-352T>C (n.*35-352T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727710T>GCA349699731PDE11A,PDE11A-AS1c.1991A>C (p.His664Pro)
c.1241A>C (p.His414Pro)
c.659A>C (p.His220Pro)
c.917A>C (p.His306Pro)
c.814A>C
n.1033A>C
c.*35-352T>G (n.*35-352T>G)
2g.177727710T=CA1310160770PDE11A,PDE11A-AS1c.1991A= (p.His664=)
c.1241A= (p.His414=)
c.659A= (p.His220=)
c.917A= (p.His306=)
c.814A=
n.1033A=
c.*35-352T= (n.*35-352T=)
2g.177727711G>ACA349699732PDE11A,PDE11A-AS1c.1990C>T (p.His664Tyr)
c.1240C>T (p.His414Tyr)
c.658C>T (p.His220Tyr)
c.916C>T (p.His306Tyr)
c.813C>T
n.1032C>T
c.*35-351G>A (n.*35-351G>A)
 dbSNP gnomAD v2
2g.177727711G>CCA349699733PDE11A,PDE11A-AS1c.1990C>G (p.His664Asp)
c.1240C>G (p.His414Asp)
c.658C>G (p.His220Asp)
c.916C>G (p.His306Asp)
c.813C>G
n.1032C>G
c.*35-351G>C (n.*35-351G>C)
2g.177727711G=CA1310160771PDE11A,PDE11A-AS1c.1990C= (p.His664=)
c.1240C= (p.His414=)
c.658C= (p.His220=)
c.916C= (p.His306=)
c.813C=
n.1032C=
c.*35-351G= (n.*35-351G=)
2g.177727711G>TCA349699734PDE11A,PDE11A-AS1c.1990C>A (p.His664Asn)
c.1240C>A (p.His414Asn)
c.658C>A (p.His220Asn)
c.916C>A (p.His306Asn)
c.813C>A
n.1032C>A
c.*35-351G>T (n.*35-351G>T)
 gnomAD v4
2g.177727712delCA2577167907PDE11A,PDE11A-AS1c.1990del (p.His664ThrfsTer12)
c.1240del (p.His414ThrfsTer12)
c.658del (p.His220ThrfsTer12)
c.916del (p.His306ThrfsTer12)
c.813del
n.1032del
c.*35-350del (n.*35-350del)
2g.177727712G>ACA1981736PDE11A,PDE11A-AS1c.1989C>T (p.Tyr663=)
c.1239C>T (p.Tyr413=)
c.657C>T (p.Tyr219=)
c.915C>T (p.Tyr305=)
c.812C>T
n.1031C>T
c.*35-350G>A (n.*35-350G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727712G>CCA349699735PDE11A,PDE11A-AS1c.1989C>G (p.Tyr663Ter)
c.1239C>G (p.Tyr413Ter)
c.657C>G (p.Tyr219Ter)
c.915C>G (p.Tyr305Ter)
c.812C>G
n.1031C>G
c.*35-350G>C (n.*35-350G>C)
2g.177727712G=CA1310160772PDE11A,PDE11A-AS1c.1989C= (p.Tyr663=)
c.1239C= (p.Tyr413=)
c.657C= (p.Tyr219=)
c.915C= (p.Tyr305=)
c.812C=
n.1031C=
c.*35-350G= (n.*35-350G=)
2g.177727712G>TCA349699736PDE11A,PDE11A-AS1c.1989C>A (p.Tyr663Ter)
c.1239C>A (p.Tyr413Ter)
c.657C>A (p.Tyr219Ter)
c.915C>A (p.Tyr305Ter)
c.812C>A
n.1031C>A
c.*35-350G>T (n.*35-350G>T)
2g.177727713T>ACA349699737PDE11A,PDE11A-AS1c.1988A>T (p.Tyr663Phe)
c.1238A>T (p.Tyr413Phe)
c.656A>T (p.Tyr219Phe)
c.914A>T (p.Tyr305Phe)
c.811A>T
n.1030A>T
c.*35-349T>A (n.*35-349T>A)
2g.177727713T>CCA349699738PDE11A,PDE11A-AS1c.1988A>G (p.Tyr663Cys)
c.1238A>G (p.Tyr413Cys)
c.656A>G (p.Tyr219Cys)
c.914A>G (p.Tyr305Cys)
c.811A>G
n.1030A>G
c.*35-349T>C (n.*35-349T>C)
2g.177727713T>GCA349699739PDE11A,PDE11A-AS1c.1988A>C (p.Tyr663Ser)
c.1238A>C (p.Tyr413Ser)
c.656A>C (p.Tyr219Ser)
c.914A>C (p.Tyr305Ser)
c.811A>C
n.1030A>C
c.*35-349T>G (n.*35-349T>G)
2g.177727714A>CCA349699740PDE11A,PDE11A-AS1c.1987T>G (p.Tyr663Asp)
c.1237T>G (p.Tyr413Asp)
c.655T>G (p.Tyr219Asp)
c.913T>G (p.Tyr305Asp)
c.810T>G
n.1029T>G
c.*35-348A>C (n.*35-348A>C)
2g.177727714A>GCA349699741PDE11A,PDE11A-AS1c.1987T>C (p.Tyr663His)
c.1237T>C (p.Tyr413His)
c.655T>C (p.Tyr219His)
c.913T>C (p.Tyr305His)
c.810T>C
n.1029T>C
c.*35-348A>G (n.*35-348A>G)
 gnomAD v4
2g.177727714A>TCA349699742PDE11A,PDE11A-AS1c.1987T>A (p.Tyr663Asn)
c.1237T>A (p.Tyr413Asn)
c.655T>A (p.Tyr219Asn)
c.913T>A (p.Tyr305Asn)
c.810T>A
n.1029T>A
c.*35-348A>T (n.*35-348A>T)
2g.177727715T>ACA430194969PDE11A,PDE11A-AS1c.1986A>T (p.Leu662=)
c.1236A>T (p.Leu412=)
c.654A>T (p.Leu218=)
c.912A>T (p.Leu304=)
c.809A>T
n.1028A>T
c.*35-347T>A (n.*35-347T>A)
2g.177727715T>CCA1981737PDE11A,PDE11A-AS1c.1986A>G (p.Leu662=)
c.1236A>G (p.Leu412=)
c.654A>G (p.Leu218=)
c.912A>G (p.Leu304=)
c.809A>G
n.1028A>G
c.*35-347T>C (n.*35-347T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727715T>GCA1981738PDE11A,PDE11A-AS1c.1986A>C (p.Leu662=)
c.1236A>C (p.Leu412=)
c.654A>C (p.Leu218=)
c.912A>C (p.Leu304=)
c.809A>C
n.1028A>C
c.*35-347T>G (n.*35-347T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727715T=CA1310160773PDE11A,PDE11A-AS1c.1986A= (p.Leu662=)
c.1236A= (p.Leu412=)
c.654A= (p.Leu218=)
c.912A= (p.Leu304=)
c.809A=
n.1028A=
c.*35-347T= (n.*35-347T=)
2g.177727716A>CCA349699743PDE11A,PDE11A-AS1c.1985T>G (p.Leu662Arg)
c.1235T>G (p.Leu412Arg)
c.653T>G (p.Leu218Arg)
c.911T>G (p.Leu304Arg)
c.808T>G
n.1027T>G
c.*35-346A>C (n.*35-346A>C)
2g.177727716A>GCA349699744PDE11A,PDE11A-AS1c.1985T>C (p.Leu662Pro)
c.1235T>C (p.Leu412Pro)
c.653T>C (p.Leu218Pro)
c.911T>C (p.Leu304Pro)
c.808T>C
n.1027T>C
c.*35-346A>G (n.*35-346A>G)
 gnomAD v4 COSMIC COSMIC
2g.177727716A>TCA349699745PDE11A,PDE11A-AS1c.1985T>A (p.Leu662Gln)
c.1235T>A (p.Leu412Gln)
c.653T>A (p.Leu218Gln)
c.911T>A (p.Leu304Gln)
c.808T>A
n.1027T>A
c.*35-346A>T (n.*35-346A>T)
2g.177727717G>ACA430194970PDE11A,PDE11A-AS1c.1984C>T (p.Leu662=)
c.1234C>T (p.Leu412=)
c.652C>T (p.Leu218=)
c.910C>T (p.Leu304=)
c.807C>T
n.1026C>T
c.*35-345G>A (n.*35-345G>A)
2g.177727717G>CCA1981739PDE11A,PDE11A-AS1c.1984C>G (p.Leu662Val)
c.1234C>G (p.Leu412Val)
c.652C>G (p.Leu218Val)
c.910C>G (p.Leu304Val)
c.807C>G
n.1026C>G
c.*35-345G>C (n.*35-345G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727717G=CA1310160774PDE11A,PDE11A-AS1c.1984C= (p.Leu662=)
c.1234C= (p.Leu412=)
c.652C= (p.Leu218=)
c.910C= (p.Leu304=)
c.807C=
n.1026C=
c.*35-345G= (n.*35-345G=)
2g.177727717G>TCA349699746PDE11A,PDE11A-AS1c.1984C>A (p.Leu662Ile)
c.1234C>A (p.Leu412Ile)
c.652C>A (p.Leu218Ile)
c.910C>A (p.Leu304Ile)
c.807C>A
n.1026C>A
c.*35-345G>T (n.*35-345G>T)
 gnomAD v4
2g.177727718A>CCA430194972PDE11A,PDE11A-AS1c.1983T>G (p.Val661=)
c.1233T>G (p.Val411=)
c.651T>G (p.Val217=)
c.909T>G (p.Val303=)
c.806T>G
n.1025T>G
c.*35-344A>C (n.*35-344A>C)
2g.177727718A>GCA430194973PDE11A,PDE11A-AS1c.1983T>C (p.Val661=)
c.1233T>C (p.Val411=)
c.651T>C (p.Val217=)
c.909T>C (p.Val303=)
c.806T>C
n.1025T>C
c.*35-344A>G (n.*35-344A>G)
2g.177727718A>TCA430194974PDE11A,PDE11A-AS1c.1983T>A (p.Val661=)
c.1233T>A (p.Val411=)
c.651T>A (p.Val217=)
c.909T>A (p.Val303=)
c.806T>A
n.1025T>A
c.*35-344A>T (n.*35-344A>T)
2g.177727719A=CA1310160775PDE11A,PDE11A-AS1c.1982T= (p.Val661=)
c.1232T= (p.Val411=)
c.650T= (p.Val217=)
c.908T= (p.Val303=)
c.805T=
n.1024T=
c.*35-343A= (n.*35-343A=)
2g.177727719A>CCA349699748PDE11A,PDE11A-AS1c.1982T>G (p.Val661Gly)
c.1232T>G (p.Val411Gly)
c.650T>G (p.Val217Gly)
c.908T>G (p.Val303Gly)
c.805T>G
n.1024T>G
c.*35-343A>C (n.*35-343A>C)
 dbSNP
2g.177727719A>GCA349699749PDE11A,PDE11A-AS1c.1982T>C (p.Val661Ala)
c.1232T>C (p.Val411Ala)
c.650T>C (p.Val217Ala)
c.908T>C (p.Val303Ala)
c.805T>C
n.1024T>C
c.*35-343A>G (n.*35-343A>G)
2g.177727719A>TCA349699747PDE11A,PDE11A-AS1c.1982T>A (p.Val661Asp)
c.1232T>A (p.Val411Asp)
c.650T>A (p.Val217Asp)
c.908T>A (p.Val303Asp)
c.805T>A
n.1024T>A
c.*35-343A>T (n.*35-343A>T)
 dbSNP
2g.177727720C>ACA1981740PDE11A,PDE11A-AS1c.1981G>T (p.Val661Phe)
c.1231G>T (p.Val411Phe)
c.649G>T (p.Val217Phe)
c.907G>T (p.Val303Phe)
c.804G>T
n.1023G>T
c.*35-342C>A (n.*35-342C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727720C=CA1310160776PDE11A,PDE11A-AS1c.1981G= (p.Val661=)
c.1231G= (p.Val411=)
c.649G= (p.Val217=)
c.907G= (p.Val303=)
c.804G=
n.1023G=
c.*35-342C= (n.*35-342C=)
2g.177727720C>GCA349699750PDE11A,PDE11A-AS1c.1981G>C (p.Val661Leu)
c.1231G>C (p.Val411Leu)
c.649G>C (p.Val217Leu)
c.907G>C (p.Val303Leu)
c.804G>C
n.1023G>C
c.*35-342C>G (n.*35-342C>G)
 gnomAD v4
2g.177727720C>TCA349699751PDE11A,PDE11A-AS1c.1981G>A (p.Val661Ile)
c.1231G>A (p.Val411Ile)
c.649G>A (p.Val217Ile)
c.907G>A (p.Val303Ile)
c.804G>A
n.1023G>A
c.*35-342C>T (n.*35-342C>T)
2g.177727721C>ACA349699752PDE11A,PDE11A-AS1c.1980G>T (p.Met660Ile)
c.1230G>T (p.Met410Ile)
c.648G>T (p.Met216Ile)
c.906G>T (p.Met302Ile)
c.803G>T
n.1022G>T
c.*35-341C>A (n.*35-341C>A)
2g.177727721C>GCA349699753PDE11A,PDE11A-AS1c.1980G>C (p.Met660Ile)
c.1230G>C (p.Met410Ile)
c.648G>C (p.Met216Ile)
c.906G>C (p.Met302Ile)
c.803G>C
n.1022G>C
c.*35-341C>G (n.*35-341C>G)
2g.177727721C>TCA349699754PDE11A,PDE11A-AS1c.1980G>A (p.Met660Ile)
c.1230G>A (p.Met410Ile)
c.648G>A (p.Met216Ile)
c.906G>A (p.Met302Ile)
c.803G>A
n.1022G>A
c.*35-341C>T (n.*35-341C>T)
2g.177727722A>CCA349699755PDE11A,PDE11A-AS1c.1979T>G (p.Met660Arg)
c.1229T>G (p.Met410Arg)
c.647T>G (p.Met216Arg)
c.905T>G (p.Met302Arg)
c.802T>G
n.1021T>G
c.*35-340A>C (n.*35-340A>C)
2g.177727722A>GCA349699756PDE11A,PDE11A-AS1c.1979T>C (p.Met660Thr)
c.1229T>C (p.Met410Thr)
c.647T>C (p.Met216Thr)
c.905T>C (p.Met302Thr)
c.802T>C
n.1021T>C
c.*35-340A>G (n.*35-340A>G)
 gnomAD v4
2g.177727722A>TCA349699757PDE11A,PDE11A-AS1c.1979T>A (p.Met660Lys)
c.1229T>A (p.Met410Lys)
c.647T>A (p.Met216Lys)
c.905T>A (p.Met302Lys)
c.802T>A
n.1021T>A
c.*35-340A>T (n.*35-340A>T)
2g.177727723T>ACA349699758PDE11A,PDE11A-AS1c.1978A>T (p.Met660Leu)
c.1228A>T (p.Met410Leu)
c.646A>T (p.Met216Leu)
c.904A>T (p.Met302Leu)
c.801A>T
n.1020A>T
c.*35-339T>A (n.*35-339T>A)
2g.177727723T>CCA349699759PDE11A,PDE11A-AS1c.1978A>G (p.Met660Val)
c.1228A>G (p.Met410Val)
c.646A>G (p.Met216Val)
c.904A>G (p.Met302Val)
c.801A>G
n.1020A>G
c.*35-339T>C (n.*35-339T>C)
2g.177727723T>GCA349699760PDE11A,PDE11A-AS1c.1978A>C (p.Met660Leu)
c.1228A>C (p.Met410Leu)
c.646A>C (p.Met216Leu)
c.904A>C (p.Met302Leu)
c.801A>C
n.1020A>C
c.*35-339T>G (n.*35-339T>G)
2g.177727724C>ACA1981741PDE11A,PDE11A-AS1c.1977G>T (p.Arg659=)
c.1227G>T (p.Arg409=)
c.645G>T (p.Arg215=)
c.903G>T (p.Arg301=)
c.800G>T
n.1019G>T
c.*35-338C>A (n.*35-338C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727724C=CA1310160777PDE11A,PDE11A-AS1c.1977G= (p.Arg659=)
c.1227G= (p.Arg409=)
c.645G= (p.Arg215=)
c.903G= (p.Arg301=)
c.800G=
n.1019G=
c.*35-338C= (n.*35-338C=)
2g.177727724C>GCA430194976PDE11A,PDE11A-AS1c.1977G>C (p.Arg659=)
c.1227G>C (p.Arg409=)
c.645G>C (p.Arg215=)
c.903G>C (p.Arg301=)
c.800G>C
n.1019G>C
c.*35-338C>G (n.*35-338C>G)
2g.177727724C>TCA430194977PDE11A,PDE11A-AS1c.1977G>A (p.Arg659=)
c.1227G>A (p.Arg409=)
c.645G>A (p.Arg215=)
c.903G>A (p.Arg301=)
c.800G>A
n.1019G>A
c.*35-338C>T (n.*35-338C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.177727725delCA2662092385PDE11A,PDE11A-AS1c.1977del (p.Met660TrpfsTer16)
c.1227del (p.Met410TrpfsTer16)
c.645del (p.Met216TrpfsTer16)
c.903del (p.Met302TrpfsTer16)
c.800del
n.1019del
c.*35-337del (n.*35-337del)
 gnomAD v4
2g.177727725C>ACA349699762PDE11A,PDE11A-AS1c.1976G>T (p.Arg659Leu)
c.1226G>T (p.Arg409Leu)
c.644G>T (p.Arg215Leu)
c.902G>T (p.Arg301Leu)
c.799G>T
n.1018G>T
c.*35-337C>A (n.*35-337C>A)
 dbSNP
2g.177727725C=CA1310160778PDE11A,PDE11A-AS1c.1976G= (p.Arg659=)
c.1226G= (p.Arg409=)
c.644G= (p.Arg215=)
c.902G= (p.Arg301=)
c.799G=
n.1018G=
c.*35-337C= (n.*35-337C=)
2g.177727725C>GCA349699761PDE11A,PDE11A-AS1c.1976G>C (p.Arg659Pro)
c.1226G>C (p.Arg409Pro)
c.644G>C (p.Arg215Pro)
c.902G>C (p.Arg301Pro)
c.799G>C
n.1018G>C
c.*35-337C>G (n.*35-337C>G)
2g.177727725C>TCA1981742PDE11A,PDE11A-AS1c.1976G>A (p.Arg659Gln)
c.1226G>A (p.Arg409Gln)
c.644G>A (p.Arg215Gln)
c.902G>A (p.Arg301Gln)
c.799G>A
n.1018G>A
c.*35-337C>T (n.*35-337C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727726G>ACA1981743PDE11A,PDE11A-AS1c.1975C>T (p.Arg659Trp)
c.1225C>T (p.Arg409Trp)
c.643C>T (p.Arg215Trp)
c.901C>T (p.Arg301Trp)
c.798C>T
n.1017C>T
c.*35-336G>A (n.*35-336G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727726G>CCA349699763PDE11A,PDE11A-AS1c.1975C>G (p.Arg659Gly)
c.1225C>G (p.Arg409Gly)
c.643C>G (p.Arg215Gly)
c.901C>G (p.Arg301Gly)
c.798C>G
n.1017C>G
c.*35-336G>C (n.*35-336G>C)
 dbSNP gnomAD v4
2g.177727726G=CA1310160779PDE11A,PDE11A-AS1c.1975C= (p.Arg659=)
c.1225C= (p.Arg409=)
c.643C= (p.Arg215=)
c.901C= (p.Arg301=)
c.798C=
n.1017C=
c.*35-336G= (n.*35-336G=)
2g.177727726G>TCA430194978PDE11A,PDE11A-AS1c.1975C>A (p.Arg659=)
c.1225C>A (p.Arg409=)
c.643C>A (p.Arg215=)
c.901C>A (p.Arg301=)
c.798C>A
n.1017C>A
c.*35-336G>T (n.*35-336G>T)
2g.177727727A>CCA349699764PDE11A,PDE11A-AS1c.1974T>G (p.Tyr658Ter)
c.1224T>G (p.Tyr408Ter)
c.642T>G (p.Tyr214Ter)
c.900T>G (p.Tyr300Ter)
c.797T>G
n.1016T>G
c.*35-335A>C (n.*35-335A>C)
2g.177727727A>GCA430194980PDE11A,PDE11A-AS1c.1974T>C (p.Tyr658=)
c.1224T>C (p.Tyr408=)
c.642T>C (p.Tyr214=)
c.900T>C (p.Tyr300=)
c.797T>C
n.1016T>C
c.*35-335A>G (n.*35-335A>G)
2g.177727727A>TCA349699765PDE11A,PDE11A-AS1c.1974T>A (p.Tyr658Ter)
c.1224T>A (p.Tyr408Ter)
c.642T>A (p.Tyr214Ter)
c.900T>A (p.Tyr300Ter)
c.797T>A
n.1016T>A
c.*35-335A>T (n.*35-335A>T)
2g.177727728T>ACA349699766PDE11A,PDE11A-AS1c.1973A>T (p.Tyr658Phe)
c.1223A>T (p.Tyr408Phe)
c.641A>T (p.Tyr214Phe)
c.899A>T (p.Tyr300Phe)
c.796A>T
n.1015A>T
c.*35-334T>A (n.*35-334T>A)
2g.177727728T>CCA1981744PDE11A,PDE11A-AS1c.1973A>G (p.Tyr658Cys)
c.1223A>G (p.Tyr408Cys)
c.641A>G (p.Tyr214Cys)
c.899A>G (p.Tyr300Cys)
c.796A>G
n.1015A>G
c.*35-334T>C (n.*35-334T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727728T>GCA349699767PDE11A,PDE11A-AS1c.1973A>C (p.Tyr658Ser)
c.1223A>C (p.Tyr408Ser)
c.641A>C (p.Tyr214Ser)
c.899A>C (p.Tyr300Ser)
c.796A>C
n.1015A>C
c.*35-334T>G (n.*35-334T>G)
2g.177727728T=CA1310160780PDE11A,PDE11A-AS1c.1973A= (p.Tyr658=)
c.1223A= (p.Tyr408=)
c.641A= (p.Tyr214=)
c.899A= (p.Tyr300=)
c.796A=
n.1015A=
c.*35-334T= (n.*35-334T=)
2g.177727729A>CCA349699768PDE11A,PDE11A-AS1c.1972T>G (p.Tyr658Asp)
c.1222T>G (p.Tyr408Asp)
c.640T>G (p.Tyr214Asp)
c.898T>G (p.Tyr300Asp)
c.795T>G
n.1014T>G
c.*35-333A>C (n.*35-333A>C)
2g.177727729A>GCA349699769PDE11A,PDE11A-AS1c.1972T>C (p.Tyr658His)
c.1222T>C (p.Tyr408His)
c.640T>C (p.Tyr214His)
c.898T>C (p.Tyr300His)
c.795T>C
n.1014T>C
c.*35-333A>G (n.*35-333A>G)
2g.177727729A>TCA349699770PDE11A,PDE11A-AS1c.1972T>A (p.Tyr658Asn)
c.1222T>A (p.Tyr408Asn)
c.640T>A (p.Tyr214Asn)
c.898T>A (p.Tyr300Asn)
c.795T>A
n.1014T>A
c.*35-333A>T (n.*35-333A>T)
2g.177727730G>ACA430194982PDE11A,PDE11A-AS1c.1971C>T (p.Asn657=)
c.1221C>T (p.Asn407=)
c.639C>T (p.Asn213=)
c.897C>T (p.Asn299=)
c.794C>T
n.1013C>T
c.*35-332G>A (n.*35-332G>A)
2g.177727730G>CCA349699771PDE11A,PDE11A-AS1c.1971C>G (p.Asn657Lys)
c.1221C>G (p.Asn407Lys)
c.639C>G (p.Asn213Lys)
c.897C>G (p.Asn299Lys)
c.794C>G
n.1013C>G
c.*35-332G>C (n.*35-332G>C)
2g.177727730G>TCA349699772PDE11A,PDE11A-AS1c.1971C>A (p.Asn657Lys)
c.1221C>A (p.Asn407Lys)
c.639C>A (p.Asn213Lys)
c.897C>A (p.Asn299Lys)
c.794C>A
n.1013C>A
c.*35-332G>T (n.*35-332G>T)
2g.177727731T>ACA349699774PDE11A,PDE11A-AS1c.1970A>T (p.Asn657Ile)
c.1220A>T (p.Asn407Ile)
c.638A>T (p.Asn213Ile)
c.896A>T (p.Asn299Ile)
c.793A>T
n.1012A>T
c.*35-331T>A (n.*35-331T>A)
2g.177727731T>CCA349699775PDE11A,PDE11A-AS1c.1970A>G (p.Asn657Ser)
c.1220A>G (p.Asn407Ser)
c.638A>G (p.Asn213Ser)
c.896A>G (p.Asn299Ser)
c.793A>G
n.1012A>G
c.*35-331T>C (n.*35-331T>C)
2g.177727731T>GCA349699773PDE11A,PDE11A-AS1c.1970A>C (p.Asn657Thr)
c.1220A>C (p.Asn407Thr)
c.638A>C (p.Asn213Thr)
c.896A>C (p.Asn299Thr)
c.793A>C
n.1012A>C
c.*35-331T>G (n.*35-331T>G)
2g.177727735dupCA2662092386PDE11A,PDE11A-AS1c.1970dup (p.Asn657LysfsTer?)
c.1220dup (p.Asn407LysfsTer?)
c.638dup (p.Asn213LysfsTer?)
c.896dup (p.Asn299LysfsTer?)
c.793dup
n.1012dup
c.*35-327dup (n.*35-327dup)
 gnomAD v4
2g.177727732T>ACA349699776PDE11A,PDE11A-AS1c.1969A>T (p.Asn657Tyr)
c.1219A>T (p.Asn407Tyr)
c.637A>T (p.Asn213Tyr)
c.895A>T (p.Asn299Tyr)
c.792A>T
n.1011A>T
c.*35-330T>A (n.*35-330T>A)
2g.177727732T>CCA349699777PDE11A,PDE11A-AS1c.1969A>G (p.Asn657Asp)
c.1219A>G (p.Asn407Asp)
c.637A>G (p.Asn213Asp)
c.895A>G (p.Asn299Asp)
c.792A>G
n.1011A>G
c.*35-330T>C (n.*35-330T>C)
2g.177727732T>GCA349699778PDE11A,PDE11A-AS1c.1969A>C (p.Asn657His)
c.1219A>C (p.Asn407His)
c.637A>C (p.Asn213His)
c.895A>C (p.Asn299His)
c.792A>C
n.1011A>C
c.*35-330T>G (n.*35-330T>G)
2g.177727733T>ACA349699779PDE11A,PDE11A-AS1c.1968A>T (p.Lys656Asn)
c.1218A>T (p.Lys406Asn)
c.636A>T (p.Lys212Asn)
c.894A>T (p.Lys298Asn)
c.791A>T
n.1010A>T
c.*35-329T>A (n.*35-329T>A)
2g.177727733T>CCA430194983PDE11A,PDE11A-AS1c.1968A>G (p.Lys656=)
c.1218A>G (p.Lys406=)
c.636A>G (p.Lys212=)
c.894A>G (p.Lys298=)
c.791A>G
n.1010A>G
c.*35-329T>C (n.*35-329T>C)
 gnomAD v4
2g.177727733T>GCA349699780PDE11A,PDE11A-AS1c.1968A>C (p.Lys656Asn)
c.1218A>C (p.Lys406Asn)
c.636A>C (p.Lys212Asn)
c.894A>C (p.Lys298Asn)
c.791A>C
n.1010A>C
c.*35-329T>G (n.*35-329T>G)
2g.177727734T>ACA349699783PDE11A,PDE11A-AS1c.1967A>T (p.Lys656Ile)
c.1217A>T (p.Lys406Ile)
c.635A>T (p.Lys212Ile)
c.893A>T (p.Lys298Ile)
c.790A>T
n.1009A>T
c.*35-328T>A (n.*35-328T>A)
2g.177727734T>CCA349699782PDE11A,PDE11A-AS1c.1967A>G (p.Lys656Arg)
c.1217A>G (p.Lys406Arg)
c.635A>G (p.Lys212Arg)
c.893A>G (p.Lys298Arg)
c.790A>G
n.1009A>G
c.*35-328T>C (n.*35-328T>C)
2g.177727734T>GCA349699781PDE11A,PDE11A-AS1c.1967A>C (p.Lys656Thr)
c.1217A>C (p.Lys406Thr)
c.635A>C (p.Lys212Thr)
c.893A>C (p.Lys298Thr)
c.790A>C
n.1009A>C
c.*35-328T>G (n.*35-328T>G)
2g.177727735T>ACA349699784PDE11A,PDE11A-AS1c.1966A>T (p.Lys656Ter)
c.1216A>T (p.Lys406Ter)
c.634A>T (p.Lys212Ter)
c.892A>T (p.Lys298Ter)
c.789A>T
n.1008A>T
c.*35-327T>A (n.*35-327T>A)
2g.177727735T>CCA349699785PDE11A,PDE11A-AS1c.1966A>G (p.Lys656Glu)
c.1216A>G (p.Lys406Glu)
c.634A>G (p.Lys212Glu)
c.892A>G (p.Lys298Glu)
c.789A>G
n.1008A>G
c.*35-327T>C (n.*35-327T>C)
2g.177727735T>GCA349699786PDE11A,PDE11A-AS1c.1966A>C (p.Lys656Gln)
c.1216A>C (p.Lys406Gln)
c.634A>C (p.Lys212Gln)
c.892A>C (p.Lys298Gln)
c.789A>C
n.1008A>C
c.*35-327T>G (n.*35-327T>G)
2g.177727736C>ACA349699787PDE11A,PDE11A-AS1c.1965G>T (p.Arg655Ser)
c.1215G>T (p.Arg405Ser)
c.633G>T (p.Arg211Ser)
c.891G>T (p.Arg297Ser)
c.788G>T
n.1007G>T
c.*35-326C>A (n.*35-326C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.177727736C=CA1310160781PDE11A,PDE11A-AS1c.1965G= (p.Arg655=)
c.1215G= (p.Arg405=)
c.633G= (p.Arg211=)
c.891G= (p.Arg297=)
c.788G=
n.1007G=
c.*35-326C= (n.*35-326C=)
2g.177727736C>GCA349699788PDE11A,PDE11A-AS1c.1965G>C (p.Arg655Ser)
c.1215G>C (p.Arg405Ser)
c.633G>C (p.Arg211Ser)
c.891G>C (p.Arg297Ser)
c.788G>C
n.1007G>C
c.*35-326C>G (n.*35-326C>G)
2g.177727736C>TCA61419406PDE11A,PDE11A-AS1c.1965G>A (p.Arg655=)
c.1215G>A (p.Arg405=)
c.633G>A (p.Arg211=)
c.891G>A (p.Arg297=)
c.788G>A
n.1007G>A
c.*35-326C>T (n.*35-326C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.177727737C>ACA349699789PDE11A,PDE11A-AS1c.1964G>T (p.Arg655Met)
c.1214G>T (p.Arg405Met)
c.632G>T (p.Arg211Met)
c.890G>T (p.Arg297Met)
c.787G>T
n.1006G>T
c.*35-325C>A (n.*35-325C>A)
2g.177727737C>GCA349699791PDE11A,PDE11A-AS1c.1964G>C (p.Arg655Thr)
c.1214G>C (p.Arg405Thr)
c.632G>C (p.Arg211Thr)
c.890G>C (p.Arg297Thr)
c.787G>C
n.1006G>C
c.*35-325C>G (n.*35-325C>G)
2g.177727737C>TCA349699790PDE11A,PDE11A-AS1c.1964G>A (p.Arg655Lys)
c.1214G>A (p.Arg405Lys)
c.632G>A (p.Arg211Lys)
c.890G>A (p.Arg297Lys)
c.787G>A
n.1006G>A
c.*35-325C>T (n.*35-325C>T)
 gnomAD v4
2g.177727738T>ACA349699792PDE11A,PDE11A-AS1c.1963A>T (p.Arg655Trp)
c.1213A>T (p.Arg405Trp)
c.631A>T (p.Arg211Trp)
c.889A>T (p.Arg297Trp)
c.786A>T
n.1005A>T
c.*35-324T>A (n.*35-324T>A)
2g.177727738T>CCA349699793PDE11A,PDE11A-AS1c.1963A>G (p.Arg655Gly)
c.1213A>G (p.Arg405Gly)
c.631A>G (p.Arg211Gly)
c.889A>G (p.Arg297Gly)
c.786A>G
n.1005A>G
c.*35-324T>C (n.*35-324T>C)
 gnomAD v4
2g.177727738T>GCA1981745PDE11A,PDE11A-AS1c.1963A>C (p.Arg655=)
c.1213A>C (p.Arg405=)
c.631A>C (p.Arg211=)
c.889A>C (p.Arg297=)
c.786A>C
n.1005A>C
c.*35-324T>G (n.*35-324T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727738T=CA1310160782PDE11A,PDE11A-AS1c.1963A= (p.Arg655=)
c.1213A= (p.Arg405=)
c.631A= (p.Arg211=)
c.889A= (p.Arg297=)
c.786A=
n.1005A=
c.*35-324T= (n.*35-324T=)
2g.177727739C>ACA430194986PDE11A,PDE11A-AS1c.1962G>T (p.Val654=)
c.1212G>T (p.Val404=)
c.630G>T (p.Val210=)
c.888G>T (p.Val296=)
c.785G>T
n.1004G>T
c.*35-323C>A (n.*35-323C>A)
2g.177727739C=CA1310160783PDE11A,PDE11A-AS1c.1962G= (p.Val654=)
c.1212G= (p.Val404=)
c.630G= (p.Val210=)
c.888G= (p.Val296=)
c.785G=
n.1004G=
c.*35-323C= (n.*35-323C=)
2g.177727739C>GCA430194987PDE11A,PDE11A-AS1c.1962G>C (p.Val654=)
c.1212G>C (p.Val404=)
c.630G>C (p.Val210=)
c.888G>C (p.Val296=)
c.785G>C
n.1004G>C
c.*35-323C>G (n.*35-323C>G)
2g.177727739C>TCA1981746PDE11A,PDE11A-AS1c.1962G>A (p.Val654=)
c.1212G>A (p.Val404=)
c.630G>A (p.Val210=)
c.888G>A (p.Val296=)
c.785G>A
n.1004G>A
c.*35-323C>T (n.*35-323C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727740A>CCA349699794PDE11A,PDE11A-AS1c.1961T>G (p.Val654Gly)
c.1211T>G (p.Val404Gly)
c.629T>G (p.Val210Gly)
c.887T>G (p.Val296Gly)
c.784T>G
n.1003T>G
c.*35-322A>C (n.*35-322A>C)
 gnomAD v4
2g.177727740A>GCA349699795PDE11A,PDE11A-AS1c.1961T>C (p.Val654Ala)
c.1211T>C (p.Val404Ala)
c.629T>C (p.Val210Ala)
c.887T>C (p.Val296Ala)
c.784T>C
n.1003T>C
c.*35-322A>G (n.*35-322A>G)
2g.177727740A>TCA349699796PDE11A,PDE11A-AS1c.1961T>A (p.Val654Glu)
c.1211T>A (p.Val404Glu)
c.629T>A (p.Val210Glu)
c.887T>A (p.Val296Glu)
c.784T>A
n.1003T>A
c.*35-322A>T (n.*35-322A>T)
2g.177727740_177727742delinsACTCA1310160784PDE11A,PDE11A-AS1c.1959_1961delinsAGT (p.Thr653=)
c.1209_1211delinsAGT (p.Thr403=)
c.627_629delinsAGT (p.Thr209=)
c.885_887delinsAGT (p.Thr295=)
c.782_784delinsAGT
n.1001_1003delinsAGT
c.*35-322_*35-320delinsACT (n.*35-322_*35-320delinsACT)
2g.177727741C>ACA349699797PDE11A,PDE11A-AS1c.1960G>T (p.Val654Leu)
c.1210G>T (p.Val404Leu)
c.628G>T (p.Val210Leu)
c.886G>T (p.Val296Leu)
c.783G>T
n.1002G>T
c.*35-321C>A (n.*35-321C>A)
2g.177727741C>GCA349699798PDE11A,PDE11A-AS1c.1960G>C (p.Val654Leu)
c.1210G>C (p.Val404Leu)
c.628G>C (p.Val210Leu)
c.886G>C (p.Val296Leu)
c.783G>C
n.1002G>C
c.*35-321C>G (n.*35-321C>G)
2g.177727741C>TCA349699799PDE11A,PDE11A-AS1c.1960G>A (p.Val654Met)
c.1210G>A (p.Val404Met)
c.628G>A (p.Val210Met)
c.886G>A (p.Val296Met)
c.783G>A
n.1002G>A
c.*35-321C>T (n.*35-321C>T)
 gnomAD v4
2g.177727741_177727742delCA1310160785PDE11A,PDE11A-AS1c.1959_1960del (p.Val654GlufsTer?)
c.1209_1210del (p.Val404GlufsTer?)
c.627_628del (p.Val210GlufsTer?)
c.885_886del (p.Val296GlufsTer?)
c.782_783del
n.1001_1002del
c.*35-321_*35-320del (n.*35-321_*35-320del)
 dbSNP
2g.177727742T>ACA430194990PDE11A,PDE11A-AS1c.1959A>T (p.Thr653=)
c.1209A>T (p.Thr403=)
c.627A>T (p.Thr209=)
c.885A>T (p.Thr295=)
c.782A>T
n.1001A>T
c.*35-320T>A (n.*35-320T>A)
2g.177727742T>CCA430194989PDE11A,PDE11A-AS1c.1959A>G (p.Thr653=)
c.1209A>G (p.Thr403=)
c.627A>G (p.Thr209=)
c.885A>G (p.Thr295=)
c.782A>G
n.1001A>G
c.*35-320T>C (n.*35-320T>C)
2g.177727742T>GCA430194988PDE11A,PDE11A-AS1c.1959A>C (p.Thr653=)
c.1209A>C (p.Thr403=)
c.627A>C (p.Thr209=)
c.885A>C (p.Thr295=)
c.782A>C
n.1001A>C
c.*35-320T>G (n.*35-320T>G)
2g.177727743G>ACA349699800PDE11A,PDE11A-AS1c.1958C>T (p.Thr653Ile)
c.1208C>T (p.Thr403Ile)
c.626C>T (p.Thr209Ile)
c.884C>T (p.Thr295Ile)
c.781C>T
n.1000C>T
c.*35-319G>A (n.*35-319G>A)
 COSMIC COSMIC
2g.177727743G>CCA349699801PDE11A,PDE11A-AS1c.1958C>G (p.Thr653Arg)
c.1208C>G (p.Thr403Arg)
c.626C>G (p.Thr209Arg)
c.884C>G (p.Thr295Arg)
c.781C>G
n.1000C>G
c.*35-319G>C (n.*35-319G>C)
2g.177727743G>TCA349699802PDE11A,PDE11A-AS1c.1958C>A (p.Thr653Lys)
c.1208C>A (p.Thr403Lys)
c.626C>A (p.Thr209Lys)
c.884C>A (p.Thr295Lys)
c.781C>A
n.1000C>A
c.*35-319G>T (n.*35-319G>T)
 gnomAD v4
2g.177727744T>ACA349699804PDE11A,PDE11A-AS1c.1957A>T (p.Thr653Ser)
c.1207A>T (p.Thr403Ser)
c.625A>T (p.Thr209Ser)
c.883A>T (p.Thr295Ser)
c.780A>T
n.999A>T
c.*35-318T>A (n.*35-318T>A)
2g.177727744T>CCA349699805PDE11A,PDE11A-AS1c.1957A>G (p.Thr653Ala)
c.1207A>G (p.Thr403Ala)
c.625A>G (p.Thr209Ala)
c.883A>G (p.Thr295Ala)
c.780A>G
n.999A>G
c.*35-318T>C (n.*35-318T>C)
 dbSNP
2g.177727744T>GCA349699803PDE11A,PDE11A-AS1c.1957A>C (p.Thr653Pro)
c.1207A>C (p.Thr403Pro)
c.625A>C (p.Thr209Pro)
c.883A>C (p.Thr295Pro)
c.780A>C
n.999A>C
c.*35-318T>G (n.*35-318T>G)
2g.177727744T=CA1310160786PDE11A,PDE11A-AS1c.1957A= (p.Thr653=)
c.1207A= (p.Thr403=)
c.625A= (p.Thr209=)
c.883A= (p.Thr295=)
c.780A=
n.999A=
c.*35-318T= (n.*35-318T=)
2g.177727745C>ACA349699807PDE11A,PDE11A-AS1c.1956G>T (p.Leu652Phe)
c.1206G>T (p.Leu402Phe)
c.624G>T (p.Leu208Phe)
c.882G>T (p.Leu294Phe)
c.779G>T
n.998G>T
c.*35-317C>A (n.*35-317C>A)
2g.177727745C>GCA349699806PDE11A,PDE11A-AS1c.1956G>C (p.Leu652Phe)
c.1206G>C (p.Leu402Phe)
c.624G>C (p.Leu208Phe)
c.882G>C (p.Leu294Phe)
c.779G>C
n.998G>C
c.*35-317C>G (n.*35-317C>G)
2g.177727745C>TCA430194991PDE11A,PDE11A-AS1c.1956G>A (p.Leu652=)
c.1206G>A (p.Leu402=)
c.624G>A (p.Leu208=)
c.882G>A (p.Leu294=)
c.779G>A
n.998G>A
c.*35-317C>T (n.*35-317C>T)
 dbSNP
2g.177727746A>CCA349699808PDE11A,PDE11A-AS1c.1955T>G (p.Leu652Trp)
c.1205T>G (p.Leu402Trp)
c.623T>G (p.Leu208Trp)
c.881T>G (p.Leu294Trp)
c.778T>G
n.997T>G
c.*35-316A>C (n.*35-316A>C)
2g.177727746A>GCA349699809PDE11A,PDE11A-AS1c.1955T>C (p.Leu652Ser)
c.1205T>C (p.Leu402Ser)
c.623T>C (p.Leu208Ser)
c.881T>C (p.Leu294Ser)
c.778T>C
n.997T>C
c.*35-316A>G (n.*35-316A>G)
2g.177727746A>TCA349699810PDE11A,PDE11A-AS1c.1955T>A (p.Leu652Ter)
c.1205T>A (p.Leu402Ter)
c.623T>A (p.Leu208Ter)
c.881T>A (p.Leu294Ter)
c.778T>A
n.997T>A
c.*35-316A>T (n.*35-316A>T)
2g.177727749delCA2662092387PDE11A,PDE11A-AS1c.1955del (p.Leu652Ter)
c.1205del (p.Leu402Ter)
c.623del (p.Leu208Ter)
c.881del (p.Leu294Ter)
c.778del
n.997del
c.*35-313del (n.*35-313del)
 gnomAD v4
2g.177727747A>CCA349699811PDE11A,PDE11A-AS1c.1954T>G (p.Leu652Val)
c.1204T>G (p.Leu402Val)
c.622T>G (p.Leu208Val)
c.880T>G (p.Leu294Val)
c.777T>G
n.996T>G
c.*35-315A>C (n.*35-315A>C)
2g.177727747A>GCA430194992PDE11A,PDE11A-AS1c.1954T>C (p.Leu652=)
c.1204T>C (p.Leu402=)
c.622T>C (p.Leu208=)
c.880T>C (p.Leu294=)
c.777T>C
n.996T>C
c.*35-315A>G (n.*35-315A>G)
2g.177727747A>TCA349699812PDE11A,PDE11A-AS1c.1954T>A (p.Leu652Met)
c.1204T>A (p.Leu402Met)
c.622T>A (p.Leu208Met)
c.880T>A (p.Leu294Met)
c.777T>A
n.996T>A
c.*35-315A>T (n.*35-315A>T)
2g.177727748A>CCA430194993PDE11A,PDE11A-AS1c.1953T>G (p.Leu651=)
c.1203T>G (p.Leu401=)
c.621T>G (p.Leu207=)
c.879T>G (p.Leu293=)
c.776T>G
n.995T>G
c.*35-314A>C (n.*35-314A>C)
2g.177727748A>GCA430194995PDE11A,PDE11A-AS1c.1953T>C (p.Leu651=)
c.1203T>C (p.Leu401=)
c.621T>C (p.Leu207=)
c.879T>C (p.Leu293=)
c.776T>C
n.995T>C
c.*35-314A>G (n.*35-314A>G)
2g.177727748A>TCA430194994PDE11A,PDE11A-AS1c.1953T>A (p.Leu651=)
c.1203T>A (p.Leu401=)
c.621T>A (p.Leu207=)
c.879T>A (p.Leu293=)
c.776T>A
n.995T>A
c.*35-314A>T (n.*35-314A>T)
2g.177727749A>CCA349699815PDE11A,PDE11A-AS1c.1952T>G (p.Leu651Arg)
c.1202T>G (p.Leu401Arg)
c.620T>G (p.Leu207Arg)
c.878T>G (p.Leu293Arg)
c.775T>G
n.994T>G
c.*35-313A>C (n.*35-313A>C)
2g.177727749A>GCA349699814PDE11A,PDE11A-AS1c.1952T>C (p.Leu651Pro)
c.1202T>C (p.Leu401Pro)
c.620T>C (p.Leu207Pro)
c.878T>C (p.Leu293Pro)
c.775T>C
n.994T>C
c.*35-313A>G (n.*35-313A>G)
 gnomAD v4
2g.177727749A>TCA349699813PDE11A,PDE11A-AS1c.1952T>A (p.Leu651His)
c.1202T>A (p.Leu401His)
c.620T>A (p.Leu207His)
c.878T>A (p.Leu293His)
c.775T>A
n.994T>A
c.*35-313A>T (n.*35-313A>T)
2g.177727750G>ACA1981747PDE11A,PDE11A-AS1c.1951C>T (p.Leu651Phe)
c.1201C>T (p.Leu401Phe)
c.619C>T (p.Leu207Phe)
c.877C>T (p.Leu293Phe)
c.774C>T
n.993C>T
c.*35-312G>A (n.*35-312G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.177727750G>CCA349699816PDE11A,PDE11A-AS1c.1951C>G (p.Leu651Val)
c.1201C>G (p.Leu401Val)
c.619C>G (p.Leu207Val)
c.877C>G (p.Leu293Val)
c.774C>G
n.993C>G
c.*35-312G>C (n.*35-312G>C)
2g.177727750G=CA1310160787PDE11A,PDE11A-AS1c.1951C= (p.Leu651=)
c.1201C= (p.Leu401=)
c.619C= (p.Leu207=)
c.877C= (p.Leu293=)
c.774C=
n.993C=
c.*35-312G= (n.*35-312G=)
2g.177727750G>TCA349699817PDE11A,PDE11A-AS1c.1951C>A (p.Leu651Ile)
c.1201C>A (p.Leu401Ile)
c.619C>A (p.Leu207Ile)
c.877C>A (p.Leu293Ile)
c.774C>A
n.993C>A
c.*35-312G>T (n.*35-312G>T)
 dbSNP gnomAD v4
2g.177727751C>ACA349699818PDE11A,PDE11A-AS1c.1950G>T (p.Trp650Cys)
c.1200G>T (p.Trp400Cys)
c.618G>T (p.Trp206Cys)
c.876G>T (p.Trp292Cys)
c.773G>T
n.992G>T
c.*35-311C>A (n.*35-311C>A)
2g.177727751C>GCA349699819PDE11A,PDE11A-AS1c.1950G>C (p.Trp650Cys)
c.1200G>C (p.Trp400Cys)
c.618G>C (p.Trp206Cys)
c.876G>C (p.Trp292Cys)
c.773G>C
n.992G>C
c.*35-311C>G (n.*35-311C>G)
 gnomAD v4
2g.177727751C>TCA349699820PDE11A,PDE11A-AS1c.1950G>A (p.Trp650Ter)
c.1200G>A (p.Trp400Ter)
c.618G>A (p.Trp206Ter)
c.876G>A (p.Trp292Ter)
c.773G>A
n.992G>A
c.*35-311C>T (n.*35-311C>T)
2g.177727752C>ACA349699821PDE11A,PDE11A-AS1c.1949G>T (p.Trp650Leu)
c.1199G>T (p.Trp400Leu)
c.617G>T (p.Trp206Leu)
c.875G>T (p.Trp292Leu)
c.772G>T
n.991G>T
c.*35-310C>A (n.*35-310C>A)
2g.177727752C>GCA349699823PDE11A,PDE11A-AS1c.1949G>C (p.Trp650Ser)
c.1199G>C (p.Trp400Ser)
c.617G>C (p.Trp206Ser)
c.875G>C (p.Trp292Ser)
c.772G>C
n.991G>C
c.*35-310C>G (n.*35-310C>G)
2g.177727752C>TCA349699822PDE11A,PDE11A-AS1c.1949G>A (p.Trp650Ter)
c.1199G>A (p.Trp400Ter)
c.617G>A (p.Trp206Ter)
c.875G>A (p.Trp292Ter)
c.772G>A
n.991G>A
c.*35-310C>T (n.*35-310C>T)
2g.177727753A>CCA349699824PDE11A,PDE11A-AS1c.1948T>G (p.Trp650Gly)
c.1198T>G (p.Trp400Gly)
c.616T>G (p.Trp206Gly)
c.874T>G (p.Trp292Gly)
c.771T>G
n.990T>G
c.*35-309A>C (n.*35-309A>C)
2g.177727753A>GCA349699825PDE11A,PDE11A-AS1c.1948T>C (p.Trp650Arg)
c.1198T>C (p.Trp400Arg)
c.616T>C (p.Trp206Arg)
c.874T>C (p.Trp292Arg)
c.771T>C
n.990T>C
c.*35-309A>G (n.*35-309A>G)
2g.177727753A>TCA349699826PDE11A,PDE11A-AS1c.1948T>A (p.Trp650Arg)
c.1198T>A (p.Trp400Arg)
c.616T>A (p.Trp206Arg)
c.874T>A (p.Trp292Arg)
c.771T>A
n.990T>A
c.*35-309A>T (n.*35-309A>T)
2g.177727754C>ACA349699827PDE11A,PDE11A-AS1c.1947G>T (p.Arg649Ser)
c.1197G>T (p.Arg399Ser)
c.615G>T (p.Arg205Ser)
c.873G>T (p.Arg291Ser)
c.770G>T
n.989G>T
c.*35-308C>A (n.*35-308C>A)
2g.177727754C>GCA349699828PDE11A,PDE11A-AS1c.1947G>C (p.Arg649Ser)
c.1197G>C (p.Arg399Ser)
c.615G>C (p.Arg205Ser)
c.873G>C (p.Arg291Ser)
c.770G>C
n.989G>C
c.*35-308C>G (n.*35-308C>G)
2g.177727754C>TCA430194996PDE11A,PDE11A-AS1c.1947G>A (p.Arg649=)
c.1197G>A (p.Arg399=)
c.615G>A (p.Arg205=)
c.873G>A (p.Arg291=)
c.770G>A
n.989G>A
c.*35-308C>T (n.*35-308C>T)
 gnomAD v4
2g.177727755C>ACA349699829PDE11A,PDE11A-AS1c.1946G>T (p.Arg649Met)
c.1196G>T (p.Arg399Met)
c.614G>T (p.Arg205Met)
c.872G>T (p.Arg291Met)
c.769G>T
n.988G>T
c.*35-307C>A (n.*35-307C>A)
2g.177727755C=CA1310160788PDE11A,PDE11A-AS1c.1946G= (p.Arg649=)
c.1196G= (p.Arg399=)
c.614G= (p.Arg205=)
c.872G= (p.Arg291=)
c.769G=
n.988G=
c.*35-307C= (n.*35-307C=)
2g.177727755C>GCA349699830PDE11A,PDE11A-AS1c.1946G>C (p.Arg649Thr)
c.1196G>C (p.Arg399Thr)
c.614G>C (p.Arg205Thr)
c.872G>C (p.Arg291Thr)
c.769G>C
n.988G>C
c.*35-307C>G (n.*35-307C>G)
 dbSNP
2g.177727755C>TCA349699831PDE11A,PDE11A-AS1c.1946G>A (p.Arg649Lys)
c.1196G>A (p.Arg399Lys)
c.614G>A (p.Arg205Lys)
c.872G>A (p.Arg291Lys)
c.769G>A
n.988G>A
c.*35-307C>T (n.*35-307C>T)
2g.177727756delCA2753316411PDE11A,PDE11A-AS1c.1945del (p.Arg649GlyfsTer4)
c.1195del (p.Arg399GlyfsTer4)
c.613del (p.Arg205GlyfsTer4)
c.871del (p.Arg291GlyfsTer4)
c.768del
n.987del
c.*35-306del (n.*35-306del)
2g.177727756T>ACA349699832PDE11A,PDE11A-AS1c.1945A>T (p.Arg649Trp)
c.1195A>T (p.Arg399Trp)
c.613A>T (p.Arg205Trp)
c.871A>T (p.Arg291Trp)
c.768A>T
n.987A>T
c.*35-306T>A (n.*35-306T>A)
2g.177727756T>CCA349699833PDE11A,PDE11A-AS1c.1945A>G (p.Arg649Gly)
c.1195A>G (p.Arg399Gly)
c.613A>G (p.Arg205Gly)
c.871A>G (p.Arg291Gly)
c.768A>G
n.987A>G
c.*35-306T>C (n.*35-306T>C)
2g.177727756T>GCA430194997PDE11A,PDE11A-AS1c.1945A>C (p.Arg649=)
c.1195A>C (p.Arg399=)
c.613A>C (p.Arg205=)
c.871A>C (p.Arg291=)
c.768A>C
n.987A>C
c.*35-306T>G (n.*35-306T>G)
2g.177727757A>CCA349699834PDE11A,PDE11A-AS1c.1944T>G (p.Cys648Trp)
c.1194T>G (p.Cys398Trp)
c.612T>G (p.Cys204Trp)
c.870T>G (p.Cys290Trp)
c.767T>G
n.986T>G
c.*35-305A>C (n.*35-305A>C)
2g.177727757A>GCA430194998PDE11A,PDE11A-AS1c.1944T>C (p.Cys648=)
c.1194T>C (p.Cys398=)
c.612T>C (p.Cys204=)
c.870T>C (p.Cys290=)
c.767T>C
n.986T>C
c.*35-305A>G (n.*35-305A>G)
 gnomAD v4
2g.177727757A>TCA349699835PDE11A,PDE11A-AS1c.1944T>A (p.Cys648Ter)
c.1194T>A (p.Cys398Ter)
c.612T>A (p.Cys204Ter)
c.870T>A (p.Cys290Ter)
c.767T>A
n.986T>A
c.*35-305A>T (n.*35-305A>T)
2g.177727758C>ACA349699836PDE11A,PDE11A-AS1c.1943G>T (p.Cys648Phe)
c.1193G>T (p.Cys398Phe)
c.611G>T (p.Cys204Phe)
c.869G>T (p.Cys290Phe)
c.766G>T
n.985G>T
c.*35-304C>A (n.*35-304C>A)
2g.177727758C=CA1310160789PDE11A,PDE11A-AS1c.1943G= (p.Cys648=)
c.1193G= (p.Cys398=)
c.611G= (p.Cys204=)
c.869G= (p.Cys290=)
c.766G=
n.985G=
c.*35-304C= (n.*35-304C=)
2g.177727758C>GCA349699838PDE11A,PDE11A-AS1c.1943G>C (p.Cys648Ser)
c.1193G>C (p.Cys398Ser)
c.611G>C (p.Cys204Ser)
c.869G>C (p.Cys290Ser)
c.766G>C
n.985G>C
c.*35-304C>G (n.*35-304C>G)
2g.177727758C>TCA349699837PDE11A,PDE11A-AS1c.1943G>A (p.Cys648Tyr)
c.1193G>A (p.Cys398Tyr)
c.611G>A (p.Cys204Tyr)
c.869G>A (p.Cys290Tyr)
c.766G>A
n.985G>A
c.*35-304C>T (n.*35-304C>T)
 dbSNP gnomAD v4
2g.177727759A=CA1310160790PDE11A,PDE11A-AS1c.1942T= (p.Cys648=)
c.1192T= (p.Cys398=)
c.610T= (p.Cys204=)
c.868T= (p.Cys290=)
c.765T=
n.984T=
c.*35-303A= (n.*35-303A=)
2g.177727759A>CCA349699839PDE11A,PDE11A-AS1c.1942T>G (p.Cys648Gly)
c.1192T>G (p.Cys398Gly)
c.610T>G (p.Cys204Gly)
c.868T>G (p.Cys290Gly)
c.765T>G
n.984T>G
c.*35-303A>C (n.*35-303A>C)
2g.177727759A>GCA349699840PDE11A,PDE11A-AS1c.1942T>C (p.Cys648Arg)
c.1192T>C (p.Cys398Arg)
c.610T>C (p.Cys204Arg)
c.868T>C (p.Cys290Arg)
c.765T>C
n.984T>C
c.*35-303A>G (n.*35-303A>G)
 gnomAD v4
2g.177727759A>TCA1981748PDE11A,PDE11A-AS1c.1942T>A (p.Cys648Ser)
c.1192T>A (p.Cys398Ser)
c.610T>A (p.Cys204Ser)
c.868T>A (p.Cys290Ser)
c.765T>A
n.984T>A
c.*35-303A>T (n.*35-303A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.177727760C>ACA430194999PDE11A,PDE11A-AS1c.1941G>T (p.Leu647=)
c.1191G>T (p.Leu397=)
c.609G>T (p.Leu203=)
c.867G>T (p.Leu289=)
c.764G>T
n.983G>T
c.*35-302C>A (n.*35-302C>A)
2g.177727760C=CA1310160791PDE11A,PDE11A-AS1c.1941G= (p.Leu647=)
c.1191G= (p.Leu397=)
c.609G= (p.Leu203=)
c.867G= (p.Leu289=)
c.764G=
n.983G=
c.*35-302C= (n.*35-302C=)
2g.177727760C>GCA430195000PDE11A,PDE11A-AS1c.1941G>C (p.Leu647=)
c.1191G>C (p.Leu397=)
c.609G>C (p.Leu203=)
c.867G>C (p.Leu289=)
c.764G>C
n.983G>C
c.*35-302C>G (n.*35-302C>G)
 dbSNP gnomAD v2
2g.177727760C>TCA430195001PDE11A,PDE11A-AS1c.1941G>A (p.Leu647=)
c.1191G>A (p.Leu397=)
c.609G>A (p.Leu203=)
c.867G>A (p.Leu289=)
c.764G>A
n.983G>A
c.*35-302C>T (n.*35-302C>T)
2g.177727761A>CCA349699841PDE11A,PDE11A-AS1c.1940T>G (p.Leu647Arg)
c.1190T>G (p.Leu397Arg)
c.608T>G (p.Leu203Arg)
c.866T>G (p.Leu289Arg)
c.763T>G
n.982T>G
c.*35-301A>C (n.*35-301A>C)
2g.177727761A>GCA349699842PDE11A,PDE11A-AS1c.1940T>C (p.Leu647Pro)
c.1190T>C (p.Leu397Pro)
c.608T>C (p.Leu203Pro)
c.866T>C (p.Leu289Pro)
c.763T>C
n.982T>C
c.*35-301A>G (n.*35-301A>G)
2g.177727761A>TCA349699843PDE11A,PDE11A-AS1c.1940T>A (p.Leu647Gln)
c.1190T>A (p.Leu397Gln)
c.608T>A (p.Leu203Gln)
c.866T>A (p.Leu289Gln)
c.763T>A
n.982T>A
c.*35-301A>T (n.*35-301A>T)
2g.177727762G>ACA430195003PDE11A,PDE11A-AS1c.1939C>T (p.Leu647=)
c.1189C>T (p.Leu397=)
c.607C>T (p.Leu203=)
c.865C>T (p.Leu289=)
c.762C>T
n.981C>T
c.*35-300G>A (n.*35-300G>A)
 gnomAD v4
2g.177727762G>CCA349699845PDE11A,PDE11A-AS1c.1939C>G (p.Leu647Val)
c.1189C>G (p.Leu397Val)
c.607C>G (p.Leu203Val)
c.865C>G (p.Leu289Val)
c.762C>G
n.981C>G
c.*35-300G>C (n.*35-300G>C)
2g.177727762G>TCA349699844PDE11A,PDE11A-AS1c.1939C>A (p.Leu647Met)
c.1189C>A (p.Leu397Met)
c.607C>A (p.Leu203Met)
c.865C>A (p.Leu289Met)
c.762C>A
n.981C>A
c.*35-300G>T (n.*35-300G>T)
 gnomAD v4
2g.177727763T>ACA430195004PDE11A,PDE11A-AS1c.1938A>T (p.Thr646=)
c.1188A>T (p.Thr396=)
c.606A>T (p.Thr202=)
c.864A>T (p.Thr288=)
c.761A>T
n.980A>T
c.*35-299T>A (n.*35-299T>A)
 gnomAD v4
2g.177727763T>CCA430195005PDE11A,PDE11A-AS1c.1938A>G (p.Thr646=)
c.1188A>G (p.Thr396=)
c.606A>G (p.Thr202=)
c.864A>G (p.Thr288=)
c.761A>G
n.980A>G
c.*35-299T>C (n.*35-299T>C)
 gnomAD v4
2g.177727763T>GCA430195006PDE11A,PDE11A-AS1c.1938A>C (p.Thr646=)
c.1188A>C (p.Thr396=)
c.606A>C (p.Thr202=)
c.864A>C (p.Thr288=)
c.761A>C
n.980A>C
c.*35-299T>G (n.*35-299T>G)
2g.177727764delCA2573051717PDE11A,PDE11A-AS1c.1937del (p.Thr646AsnfsTer7)
c.1187del (p.Thr396AsnfsTer7)
c.605del (p.Thr202AsnfsTer7)
c.863del (p.Thr288AsnfsTer7)
c.760del
n.979del
c.*35-298del (n.*35-298del)
 ClinVar dbSNP
2g.177727764G>ACA349699846PDE11A,PDE11A-AS1c.1937C>T (p.Thr646Ile)
c.1187C>T (p.Thr396Ile)
c.605C>T (p.Thr202Ile)
c.863C>T (p.Thr288Ile)
c.760C>T
n.979C>T
c.*35-298G>A (n.*35-298G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.177727764G>CCA349699847PDE11A,PDE11A-AS1c.1937C>G (p.Thr646Arg)
c.1187C>G (p.Thr396Arg)
c.605C>G (p.Thr202Arg)
c.863C>G (p.Thr288Arg)
c.760C>G
n.979C>G
c.*35-298G>C (n.*35-298G>C)
2g.177727764G=CA1310160792PDE11A,PDE11A-AS1c.1937C= (p.Thr646=)
c.1187C= (p.Thr396=)
c.605C= (p.Thr202=)
c.863C= (p.Thr288=)
c.760C=
n.979C=
c.*35-298G= (n.*35-298G=)
2g.177727764G>TCA349699848PDE11A,PDE11A-AS1c.1937C>A (p.Thr646Lys)
c.1187C>A (p.Thr396Lys)
c.605C>A (p.Thr202Lys)
c.863C>A (p.Thr288Lys)
c.760C>A
n.979C>A
c.*35-298G>T (n.*35-298G>T)
 gnomAD v4
2g.177727765T>ACA349699849PDE11A,PDE11A-AS1c.1936A>T (p.Thr646Ser)
c.1186A>T (p.Thr396Ser)
c.604A>T (p.Thr202Ser)
c.862A>T (p.Thr288Ser)
c.759A>T
n.978A>T
c.*35-297T>A (n.*35-297T>A)
 gnomAD v4
2g.177727765T>CCA349699850PDE11A,PDE11A-AS1c.1936A>G (p.Thr646Ala)
c.1186A>G (p.Thr396Ala)
c.604A>G (p.Thr202Ala)
c.862A>G (p.Thr288Ala)
c.759A>G
n.978A>G
c.*35-297T>C (n.*35-297T>C)
 gnomAD v4
2g.177727765T>GCA349699851PDE11A,PDE11A-AS1c.1936A>C (p.Thr646Pro)
c.1186A>C (p.Thr396Pro)
c.604A>C (p.Thr202Pro)
c.862A>C (p.Thr288Pro)
c.759A>C
n.978A>C
c.*35-297T>G (n.*35-297T>G)
2g.177727766C>ACA349699852PDE11A,PDE11A-AS1c.1936-1G>T (n.1936-1G>T)
c.1186-1G>T (n.1186-1G>T)
c.604-1G>T (n.604-1G>T)
c.862-1G>T (n.862-1G>T)
c.759-1G>T
n.978-1G>T
c.*35-296C>A (n.*35-296C>A)
2g.177727766C>GCA349699854PDE11A,PDE11A-AS1c.1936-1G>C (n.1936-1G>C)
c.1186-1G>C (n.1186-1G>C)
c.604-1G>C (n.604-1G>C)
c.862-1G>C (n.862-1G>C)
c.759-1G>C
n.978-1G>C
c.*35-296C>G (n.*35-296C>G)
2g.177727766C>TCA349699853PDE11A,PDE11A-AS1c.1936-1G>A (n.1936-1G>A)
c.1186-1G>A (n.1186-1G>A)
c.604-1G>A (n.604-1G>A)
c.862-1G>A (n.862-1G>A)
c.759-1G>A
n.978-1G>A
c.*35-296C>T (n.*35-296C>T)
2g.177727767T>ACA16617329PDE11A,PDE11A-AS1c.1936-2A>T (n.1936-2A>T)
c.1186-2A>T (n.1186-2A>T)
c.604-2A>T (n.604-2A>T)
c.862-2A>T (n.862-2A>T)
c.759-2A>T
n.978-2A>T
c.*35-295T>A (n.*35-295T>A)
 ClinVar dbSNP
2g.177727767T>CCA349699855PDE11A,PDE11A-AS1c.1936-2A>G (n.1936-2A>G)
c.1186-2A>G (n.1186-2A>G)
c.604-2A>G (n.604-2A>G)
c.862-2A>G (n.862-2A>G)
c.759-2A>G
n.978-2A>G
c.*35-295T>C (n.*35-295T>C)
 gnomAD v4
2g.177727767T>GCA349699856PDE11A,PDE11A-AS1c.1936-2A>C (n.1936-2A>C)
c.1186-2A>C (n.1186-2A>C)
c.604-2A>C (n.604-2A>C)
c.862-2A>C (n.862-2A>C)
c.759-2A>C
n.978-2A>C
c.*35-295T>G (n.*35-295T>G)
2g.177727767T=CA1310160793PDE11A,PDE11A-AS1c.1936-2A= (n.1936-2A=)
c.1186-2A= (n.1186-2A=)
c.604-2A= (n.604-2A=)
c.862-2A= (n.862-2A=)
c.759-2A=
n.978-2A=
c.*35-295T= (n.*35-295T=)

Number of alleles fetched