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)

Number of alleles fetched