Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.123325288G>ACA82899228ADCY5c.765+34C>T (n.765+34C>T)
c.1053+34C>T (n.1053+34C>T)
c.2088+34C>T (n.2088+34C>T)
n.347+34C>T
c.1038+34C>T (n.1038+34C>T)
c.987+34C>T (n.987+34C>T)
c.1089+34C>T (n.1089+34C>T)
c.999+34C>T (n.999+34C>T)
c.990+34C>T (n.990+34C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.123325288G>CCA1398346205ADCY5c.765+34C>G (n.765+34C>G)
c.1053+34C>G (n.1053+34C>G)
c.2088+34C>G (n.2088+34C>G)
n.347+34C>G
c.1038+34C>G (n.1038+34C>G)
c.987+34C>G (n.987+34C>G)
c.1089+34C>G (n.1089+34C>G)
c.999+34C>G (n.999+34C>G)
c.990+34C>G (n.990+34C>G)
 dbSNP
3g.123325288G=CA1398346204ADCY5c.765+34C= (n.765+34C=)
c.1053+34C= (n.1053+34C=)
c.2088+34C= (n.2088+34C=)
n.347+34C=
c.1038+34C= (n.1038+34C=)
c.987+34C= (n.987+34C=)
c.1089+34C= (n.1089+34C=)
c.999+34C= (n.999+34C=)
c.990+34C= (n.990+34C=)
3g.123325289T>ACA545686447ADCY5c.765+33A>T (n.765+33A>T)
c.1053+33A>T (n.1053+33A>T)
c.2088+33A>T (n.2088+33A>T)
n.347+33A>T
c.1038+33A>T (n.1038+33A>T)
c.987+33A>T (n.987+33A>T)
c.1089+33A>T (n.1089+33A>T)
c.999+33A>T (n.999+33A>T)
c.990+33A>T (n.990+33A>T)
 dbSNP gnomAD v2 gnomAD v4
3g.123325289T=CA1398346206ADCY5c.765+33A= (n.765+33A=)
c.1053+33A= (n.1053+33A=)
c.2088+33A= (n.2088+33A=)
n.347+33A=
c.1038+33A= (n.1038+33A=)
c.987+33A= (n.987+33A=)
c.1089+33A= (n.1089+33A=)
c.999+33A= (n.999+33A=)
c.990+33A= (n.990+33A=)
3g.123325291T>ACA1398346208ADCY5c.765+31A>T (n.765+31A>T)
c.1053+31A>T (n.1053+31A>T)
c.2088+31A>T (n.2088+31A>T)
n.347+31A>T
c.1038+31A>T (n.1038+31A>T)
c.987+31A>T (n.987+31A>T)
c.1089+31A>T (n.1089+31A>T)
c.999+31A>T (n.999+31A>T)
c.990+31A>T (n.990+31A>T)
 dbSNP gnomAD v4
3g.123325291T>CCA2577268ADCY5c.765+31A>G (n.765+31A>G)
c.1053+31A>G (n.1053+31A>G)
c.2088+31A>G (n.2088+31A>G)
n.347+31A>G
c.1038+31A>G (n.1038+31A>G)
c.987+31A>G (n.987+31A>G)
c.1089+31A>G (n.1089+31A>G)
c.999+31A>G (n.999+31A>G)
c.990+31A>G (n.990+31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325291T=CA1398346207ADCY5c.765+31A= (n.765+31A=)
c.1053+31A= (n.1053+31A=)
c.2088+31A= (n.2088+31A=)
n.347+31A=
c.1038+31A= (n.1038+31A=)
c.987+31A= (n.987+31A=)
c.1089+31A= (n.1089+31A=)
c.999+31A= (n.999+31A=)
c.990+31A= (n.990+31A=)
3g.123325293G>ACA1398346210ADCY5c.765+29C>T (n.765+29C>T)
c.1053+29C>T (n.1053+29C>T)
c.2088+29C>T (n.2088+29C>T)
n.347+29C>T
c.1038+29C>T (n.1038+29C>T)
c.987+29C>T (n.987+29C>T)
c.1089+29C>T (n.1089+29C>T)
c.999+29C>T (n.999+29C>T)
c.990+29C>T (n.990+29C>T)
 dbSNP
3g.123325293G=CA1398346209ADCY5c.765+29C= (n.765+29C=)
c.1053+29C= (n.1053+29C=)
c.2088+29C= (n.2088+29C=)
n.347+29C=
c.1038+29C= (n.1038+29C=)
c.987+29C= (n.987+29C=)
c.1089+29C= (n.1089+29C=)
c.999+29C= (n.999+29C=)
c.990+29C= (n.990+29C=)
3g.123325294C>TCA2667293673ADCY5c.765+28G>A (n.765+28G>A)
c.1053+28G>A (n.1053+28G>A)
c.2088+28G>A (n.2088+28G>A)
n.347+28G>A
c.1038+28G>A (n.1038+28G>A)
c.987+28G>A (n.987+28G>A)
c.1089+28G>A (n.1089+28G>A)
c.999+28G>A (n.999+28G>A)
c.990+28G>A (n.990+28G>A)
 gnomAD v4
3g.123325295C=CA1398346211ADCY5c.765+27G= (n.765+27G=)
c.1053+27G= (n.1053+27G=)
c.2088+27G= (n.2088+27G=)
n.347+27G=
c.1038+27G= (n.1038+27G=)
c.987+27G= (n.987+27G=)
c.1089+27G= (n.1089+27G=)
c.999+27G= (n.999+27G=)
c.990+27G= (n.990+27G=)
3g.123325295C>TCA2577269ADCY5c.765+27G>A (n.765+27G>A)
c.1053+27G>A (n.1053+27G>A)
c.2088+27G>A (n.2088+27G>A)
n.347+27G>A
c.1038+27G>A (n.1038+27G>A)
c.987+27G>A (n.987+27G>A)
c.1089+27G>A (n.1089+27G>A)
c.999+27G>A (n.999+27G>A)
c.990+27G>A (n.990+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325297A>GCA2667293674ADCY5c.765+25T>C (n.765+25T>C)
c.1053+25T>C (n.1053+25T>C)
c.2088+25T>C (n.2088+25T>C)
n.347+25T>C
c.1038+25T>C (n.1038+25T>C)
c.987+25T>C (n.987+25T>C)
c.1089+25T>C (n.1089+25T>C)
c.999+25T>C (n.999+25T>C)
c.990+25T>C (n.990+25T>C)
 gnomAD v4
3g.123325298C>ACA2667293675ADCY5c.765+24G>T (n.765+24G>T)
c.1053+24G>T (n.1053+24G>T)
c.2088+24G>T (n.2088+24G>T)
n.347+24G>T
c.1038+24G>T (n.1038+24G>T)
c.987+24G>T (n.987+24G>T)
c.1089+24G>T (n.1089+24G>T)
c.999+24G>T (n.999+24G>T)
c.990+24G>T (n.990+24G>T)
 gnomAD v4
3g.123325298C=CA1398346212ADCY5c.765+24G= (n.765+24G=)
c.1053+24G= (n.1053+24G=)
c.2088+24G= (n.2088+24G=)
n.347+24G=
c.1038+24G= (n.1038+24G=)
c.987+24G= (n.987+24G=)
c.1089+24G= (n.1089+24G=)
c.999+24G= (n.999+24G=)
c.990+24G= (n.990+24G=)
3g.123325298C>TCA2577270ADCY5c.765+24G>A (n.765+24G>A)
c.1053+24G>A (n.1053+24G>A)
c.2088+24G>A (n.2088+24G>A)
n.347+24G>A
c.1038+24G>A (n.1038+24G>A)
c.987+24G>A (n.987+24G>A)
c.1089+24G>A (n.1089+24G>A)
c.999+24G>A (n.999+24G>A)
c.990+24G>A (n.990+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325299A=CA1398346213ADCY5c.765+23T= (n.765+23T=)
c.1053+23T= (n.1053+23T=)
c.2088+23T= (n.2088+23T=)
n.347+23T=
c.1038+23T= (n.1038+23T=)
c.987+23T= (n.987+23T=)
c.1089+23T= (n.1089+23T=)
c.999+23T= (n.999+23T=)
c.990+23T= (n.990+23T=)
3g.123325299A>GCA545686449ADCY5c.765+23T>C (n.765+23T>C)
c.1053+23T>C (n.1053+23T>C)
c.2088+23T>C (n.2088+23T>C)
n.347+23T>C
c.1038+23T>C (n.1038+23T>C)
c.987+23T>C (n.987+23T>C)
c.1089+23T>C (n.1089+23T>C)
c.999+23T>C (n.999+23T>C)
c.990+23T>C (n.990+23T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.123325300G>CCA2667293676ADCY5c.765+22C>G (n.765+22C>G)
c.1053+22C>G (n.1053+22C>G)
c.2088+22C>G (n.2088+22C>G)
n.347+22C>G
c.1038+22C>G (n.1038+22C>G)
c.987+22C>G (n.987+22C>G)
c.1089+22C>G (n.1089+22C>G)
c.999+22C>G (n.999+22C>G)
c.990+22C>G (n.990+22C>G)
 gnomAD v4
3g.123325301G>TCA2577875166ADCY5c.765+21C>A (n.765+21C>A)
c.1053+21C>A (n.1053+21C>A)
c.2088+21C>A (n.2088+21C>A)
n.347+21C>A
c.1038+21C>A (n.1038+21C>A)
c.987+21C>A (n.987+21C>A)
c.1089+21C>A (n.1089+21C>A)
c.999+21C>A (n.999+21C>A)
c.990+21C>A (n.990+21C>A)
 gnomAD v4
3g.123325302C>TCA2758206419ADCY5c.765+20G>A (n.765+20G>A)
c.1053+20G>A (n.1053+20G>A)
c.2088+20G>A (n.2088+20G>A)
n.347+20G>A
c.1038+20G>A (n.1038+20G>A)
c.987+20G>A (n.987+20G>A)
c.1089+20G>A (n.1089+20G>A)
c.999+20G>A (n.999+20G>A)
c.990+20G>A (n.990+20G>A)
3g.123325304G>ACA2667293677ADCY5c.765+18C>T (n.765+18C>T)
c.1053+18C>T (n.1053+18C>T)
c.2088+18C>T (n.2088+18C>T)
n.347+18C>T
c.1038+18C>T (n.1038+18C>T)
c.987+18C>T (n.987+18C>T)
c.1089+18C>T (n.1089+18C>T)
c.999+18C>T (n.999+18C>T)
c.990+18C>T (n.990+18C>T)
 gnomAD v4
3g.123325304G=CA1398346214ADCY5c.765+18C= (n.765+18C=)
c.1053+18C= (n.1053+18C=)
c.2088+18C= (n.2088+18C=)
n.347+18C=
c.1038+18C= (n.1038+18C=)
c.987+18C= (n.987+18C=)
c.1089+18C= (n.1089+18C=)
c.999+18C= (n.999+18C=)
c.990+18C= (n.990+18C=)
3g.123325304G>TCA2577271ADCY5c.765+18C>A (n.765+18C>A)
c.1053+18C>A (n.1053+18C>A)
c.2088+18C>A (n.2088+18C>A)
n.347+18C>A
c.1038+18C>A (n.1038+18C>A)
c.987+18C>A (n.987+18C>A)
c.1089+18C>A (n.1089+18C>A)
c.999+18C>A (n.999+18C>A)
c.990+18C>A (n.990+18C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325305C=CA1398346215ADCY5c.765+17G= (n.765+17G=)
c.1053+17G= (n.1053+17G=)
c.2088+17G= (n.2088+17G=)
n.347+17G=
c.1038+17G= (n.1038+17G=)
c.987+17G= (n.987+17G=)
c.1089+17G= (n.1089+17G=)
c.999+17G= (n.999+17G=)
c.990+17G= (n.990+17G=)
3g.123325305C>GCA2577272ADCY5c.765+17G>C (n.765+17G>C)
c.1053+17G>C (n.1053+17G>C)
c.2088+17G>C (n.2088+17G>C)
n.347+17G>C
c.1038+17G>C (n.1038+17G>C)
c.987+17G>C (n.987+17G>C)
c.1089+17G>C (n.1089+17G>C)
c.999+17G>C (n.999+17G>C)
c.990+17G>C (n.990+17G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325305C>TCA2577273ADCY5c.765+17G>A (n.765+17G>A)
c.1053+17G>A (n.1053+17G>A)
c.2088+17G>A (n.2088+17G>A)
n.347+17G>A
c.1038+17G>A (n.1038+17G>A)
c.987+17G>A (n.987+17G>A)
c.1089+17G>A (n.1089+17G>A)
c.999+17G>A (n.999+17G>A)
c.990+17G>A (n.990+17G>A)
 dbSNP ExAC gnomAD v4
3g.123325306C=CA1398346216ADCY5c.765+16G= (n.765+16G=)
c.1053+16G= (n.1053+16G=)
c.2088+16G= (n.2088+16G=)
n.347+16G=
c.1038+16G= (n.1038+16G=)
c.987+16G= (n.987+16G=)
c.1089+16G= (n.1089+16G=)
c.999+16G= (n.999+16G=)
c.990+16G= (n.990+16G=)
3g.123325306C>GCA1398346217ADCY5c.765+16G>C (n.765+16G>C)
c.1053+16G>C (n.1053+16G>C)
c.2088+16G>C (n.2088+16G>C)
n.347+16G>C
c.1038+16G>C (n.1038+16G>C)
c.987+16G>C (n.987+16G>C)
c.1089+16G>C (n.1089+16G>C)
c.999+16G>C (n.999+16G>C)
c.990+16G>C (n.990+16G>C)
 dbSNP
3g.123325308C>TCA2667293678ADCY5c.765+14G>A (n.765+14G>A)
c.1053+14G>A (n.1053+14G>A)
c.2088+14G>A (n.2088+14G>A)
n.347+14G>A
c.1038+14G>A (n.1038+14G>A)
c.987+14G>A (n.987+14G>A)
c.1089+14G>A (n.1089+14G>A)
c.999+14G>A (n.999+14G>A)
c.990+14G>A (n.990+14G>A)
 gnomAD v4
3g.123325309A=CA1398346218ADCY5c.765+13T= (n.765+13T=)
c.1053+13T= (n.1053+13T=)
c.2088+13T= (n.2088+13T=)
n.347+13T=
c.1038+13T= (n.1038+13T=)
c.987+13T= (n.987+13T=)
c.1089+13T= (n.1089+13T=)
c.999+13T= (n.999+13T=)
c.990+13T= (n.990+13T=)
3g.123325309A>CCA2577274ADCY5c.765+13T>G (n.765+13T>G)
c.1053+13T>G (n.1053+13T>G)
c.2088+13T>G (n.2088+13T>G)
n.347+13T>G
c.1038+13T>G (n.1038+13T>G)
c.987+13T>G (n.987+13T>G)
c.1089+13T>G (n.1089+13T>G)
c.999+13T>G (n.999+13T>G)
c.990+13T>G (n.990+13T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325309A>TCA2560949639ADCY5c.765+13T>A (n.765+13T>A)
c.1053+13T>A (n.1053+13T>A)
c.2088+13T>A (n.2088+13T>A)
n.347+13T>A
c.1038+13T>A (n.1038+13T>A)
c.987+13T>A (n.987+13T>A)
c.1089+13T>A (n.1089+13T>A)
c.999+13T>A (n.999+13T>A)
c.990+13T>A (n.990+13T>A)
3g.123325311C=CA1398346219ADCY5c.765+11G= (n.765+11G=)
c.1053+11G= (n.1053+11G=)
c.2088+11G= (n.2088+11G=)
n.347+11G=
c.1038+11G= (n.1038+11G=)
c.987+11G= (n.987+11G=)
c.1089+11G= (n.1089+11G=)
c.999+11G= (n.999+11G=)
c.990+11G= (n.990+11G=)
3g.123325311C>TCA898166497ADCY5c.765+11G>A (n.765+11G>A)
c.1053+11G>A (n.1053+11G>A)
c.2088+11G>A (n.2088+11G>A)
n.347+11G>A
c.1038+11G>A (n.1038+11G>A)
c.987+11G>A (n.987+11G>A)
c.1089+11G>A (n.1089+11G>A)
c.999+11G>A (n.999+11G>A)
c.990+11G>A (n.990+11G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.123325312A>GCA2667293679ADCY5c.765+10T>C (n.765+10T>C)
c.1053+10T>C (n.1053+10T>C)
c.2088+10T>C (n.2088+10T>C)
n.347+10T>C
c.1038+10T>C (n.1038+10T>C)
c.987+10T>C (n.987+10T>C)
c.1089+10T>C (n.1089+10T>C)
c.999+10T>C (n.999+10T>C)
c.990+10T>C (n.990+10T>C)
 gnomAD v4
3g.123325313G>ACA2667293680ADCY5c.765+9C>T (n.765+9C>T)
c.1053+9C>T (n.1053+9C>T)
c.2088+9C>T (n.2088+9C>T)
n.347+9C>T
c.1038+9C>T (n.1038+9C>T)
c.987+9C>T (n.987+9C>T)
c.1089+9C>T (n.1089+9C>T)
c.999+9C>T (n.999+9C>T)
c.990+9C>T (n.990+9C>T)
 gnomAD v4
3g.123325315C=CA1398346221ADCY5c.765+7G= (n.765+7G=)
c.1053+7G= (n.1053+7G=)
c.2088+7G= (n.2088+7G=)
n.347+7G=
c.1038+7G= (n.1038+7G=)
c.987+7G= (n.987+7G=)
c.1089+7G= (n.1089+7G=)
c.999+7G= (n.999+7G=)
c.990+7G= (n.990+7G=)
3g.123325315C>TCA1398346220ADCY5c.765+7G>A (n.765+7G>A)
c.1053+7G>A (n.1053+7G>A)
c.2088+7G>A (n.2088+7G>A)
n.347+7G>A
c.1038+7G>A (n.1038+7G>A)
c.987+7G>A (n.987+7G>A)
c.1089+7G>A (n.1089+7G>A)
c.999+7G>A (n.999+7G>A)
c.990+7G>A (n.990+7G>A)
 dbSNP
3g.123325316A>TCA2667293681ADCY5c.765+6T>A (n.765+6T>A)
c.1053+6T>A (n.1053+6T>A)
c.2088+6T>A (n.2088+6T>A)
n.347+6T>A
c.1038+6T>A (n.1038+6T>A)
c.987+6T>A (n.987+6T>A)
c.1089+6T>A (n.1089+6T>A)
c.999+6T>A (n.999+6T>A)
c.990+6T>A (n.990+6T>A)
 gnomAD v4
3g.123325319C>ACA2667293682ADCY5c.765+3G>T (n.765+3G>T)
c.1053+3G>T (n.1053+3G>T)
c.2088+3G>T (n.2088+3G>T)
n.347+3G>T
c.1038+3G>T (n.1038+3G>T)
c.987+3G>T (n.987+3G>T)
c.1089+3G>T (n.1089+3G>T)
c.999+3G>T (n.999+3G>T)
c.990+3G>T (n.990+3G>T)
 gnomAD v4
3g.123325319C=CA1398346222ADCY5c.765+3G= (n.765+3G=)
c.1053+3G= (n.1053+3G=)
c.2088+3G= (n.2088+3G=)
n.347+3G=
c.1038+3G= (n.1038+3G=)
c.987+3G= (n.987+3G=)
c.1089+3G= (n.1089+3G=)
c.999+3G= (n.999+3G=)
c.990+3G= (n.990+3G=)
3g.123325319C>TCA545686492ADCY5c.765+3G>A (n.765+3G>A)
c.1053+3G>A (n.1053+3G>A)
c.2088+3G>A (n.2088+3G>A)
n.347+3G>A
c.1038+3G>A (n.1038+3G>A)
c.987+3G>A (n.987+3G>A)
c.1089+3G>A (n.1089+3G>A)
c.999+3G>A (n.999+3G>A)
c.990+3G>A (n.990+3G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.123325320A>CCA354218217ADCY5c.765+2T>G (n.765+2T>G)
c.1053+2T>G (n.1053+2T>G)
c.2088+2T>G (n.2088+2T>G)
n.347+2T>G
c.1038+2T>G (n.1038+2T>G)
c.987+2T>G (n.987+2T>G)
c.1089+2T>G (n.1089+2T>G)
c.999+2T>G (n.999+2T>G)
c.990+2T>G (n.990+2T>G)
3g.123325320A>GCA354218219ADCY5c.765+2T>C (n.765+2T>C)
c.1053+2T>C (n.1053+2T>C)
c.2088+2T>C (n.2088+2T>C)
n.347+2T>C
c.1038+2T>C (n.1038+2T>C)
c.987+2T>C (n.987+2T>C)
c.1089+2T>C (n.1089+2T>C)
c.999+2T>C (n.999+2T>C)
c.990+2T>C (n.990+2T>C)
3g.123325320A>TCA354218221ADCY5c.765+2T>A (n.765+2T>A)
c.1053+2T>A (n.1053+2T>A)
c.2088+2T>A (n.2088+2T>A)
n.347+2T>A
c.1038+2T>A (n.1038+2T>A)
c.987+2T>A (n.987+2T>A)
c.1089+2T>A (n.1089+2T>A)
c.999+2T>A (n.999+2T>A)
c.990+2T>A (n.990+2T>A)
3g.123325321C>ACA275966ADCY5c.765+1G>T (n.765+1G>T)
c.1053+1G>T (n.1053+1G>T)
c.2088+1G>T (n.2088+1G>T)
n.347+1G>T
c.1038+1G>T (n.1038+1G>T)
c.987+1G>T (n.987+1G>T)
c.1089+1G>T (n.1089+1G>T)
c.999+1G>T (n.999+1G>T)
c.990+1G>T (n.990+1G>T)
 ClinVar dbSNP
3g.123325321C=CA1398346223ADCY5c.765+1G= (n.765+1G=)
c.1053+1G= (n.1053+1G=)
c.2088+1G= (n.2088+1G=)
n.347+1G=
c.1038+1G= (n.1038+1G=)
c.987+1G= (n.987+1G=)
c.1089+1G= (n.1089+1G=)
c.999+1G= (n.999+1G=)
c.990+1G= (n.990+1G=)
3g.123325321C>GCA354218224ADCY5c.765+1G>C (n.765+1G>C)
c.1053+1G>C (n.1053+1G>C)
c.2088+1G>C (n.2088+1G>C)
n.347+1G>C
c.1038+1G>C (n.1038+1G>C)
c.987+1G>C (n.987+1G>C)
c.1089+1G>C (n.1089+1G>C)
c.999+1G>C (n.999+1G>C)
c.990+1G>C (n.990+1G>C)
3g.123325321C>TCA347808ADCY5c.765+1G>A (n.765+1G>A)
c.1053+1G>A (n.1053+1G>A)
c.2088+1G>A (n.2088+1G>A)
n.347+1G>A
c.1038+1G>A (n.1038+1G>A)
c.987+1G>A (n.987+1G>A)
c.1089+1G>A (n.1089+1G>A)
c.999+1G>A (n.999+1G>A)
c.990+1G>A (n.990+1G>A)
 ClinVar dbSNP
3g.123325322C>ACA354218228ADCY5c.765G>T (p.Met255Ile)
c.1053G>T (p.Met351Ile)
c.2088G>T (p.Met696Ile)
n.347G>T
c.1038G>T (p.Met346Ile)
c.987G>T (p.Met329Ile)
c.1089G>T (p.Met363Ile)
c.999G>T (p.Met333Ile)
c.990G>T (p.Met330Ile)
3g.123325322C>GCA354218232ADCY5c.765G>C (p.Met255Ile)
c.1053G>C (p.Met351Ile)
c.2088G>C (p.Met696Ile)
n.347G>C
c.1038G>C (p.Met346Ile)
c.987G>C (p.Met329Ile)
c.1089G>C (p.Met363Ile)
c.999G>C (p.Met333Ile)
c.990G>C (p.Met330Ile)
3g.123325322C>TCA354218229ADCY5c.765G>A (p.Met255Ile)
c.1053G>A (p.Met351Ile)
c.2088G>A (p.Met696Ile)
n.347G>A
c.1038G>A (p.Met346Ile)
c.987G>A (p.Met329Ile)
c.1089G>A (p.Met363Ile)
c.999G>A (p.Met333Ile)
c.990G>A (p.Met330Ile)
3g.123325326_123325334delCA2499216418ADCY5c.757_765del (p.Lys253_Met255del)
c.1045_1053del (p.Lys349_Met351del)
c.2080_2088del (p.Lys694_Met696del)
n.339_347del
c.1030_1038del (p.Lys344_Met346del)
c.979_987del (p.Lys327_Met329del)
c.1081_1089del (p.Lys361_Met363del)
c.991_999del (p.Lys331_Met333del)
c.982_990del (p.Lys328_Met330del)
 ClinVar dbSNP
3g.123325323A>CCA354218234ADCY5c.764T>G (p.Met255Arg)
c.1052T>G (p.Met351Arg)
c.2087T>G (p.Met696Arg)
n.346T>G
c.1037T>G (p.Met346Arg)
c.986T>G (p.Met329Arg)
c.1088T>G (p.Met363Arg)
c.998T>G (p.Met333Arg)
c.989T>G (p.Met330Arg)
3g.123325323A>GCA354218236ADCY5c.764T>C (p.Met255Thr)
c.1052T>C (p.Met351Thr)
c.2087T>C (p.Met696Thr)
n.346T>C
c.1037T>C (p.Met346Thr)
c.986T>C (p.Met329Thr)
c.1088T>C (p.Met363Thr)
c.998T>C (p.Met333Thr)
c.989T>C (p.Met330Thr)
 ClinVar dbSNP
3g.123325323A>TCA354218238ADCY5c.764T>A (p.Met255Lys)
c.1052T>A (p.Met351Lys)
c.2087T>A (p.Met696Lys)
n.346T>A
c.1037T>A (p.Met346Lys)
c.986T>A (p.Met329Lys)
c.1088T>A (p.Met363Lys)
c.998T>A (p.Met333Lys)
c.989T>A (p.Met330Lys)
3g.123325324T>ACA354218240ADCY5c.763A>T (p.Met255Leu)
c.1051A>T (p.Met351Leu)
c.2086A>T (p.Met696Leu)
n.345A>T
c.1036A>T (p.Met346Leu)
c.985A>T (p.Met329Leu)
c.1087A>T (p.Met363Leu)
c.997A>T (p.Met333Leu)
c.988A>T (p.Met330Leu)
3g.123325324T>CCA354218242ADCY5c.763A>G (p.Met255Val)
c.1051A>G (p.Met351Val)
c.2086A>G (p.Met696Val)
n.345A>G
c.1036A>G (p.Met346Val)
c.985A>G (p.Met329Val)
c.1087A>G (p.Met363Val)
c.997A>G (p.Met333Val)
c.988A>G (p.Met330Val)
3g.123325324T>GCA354218247ADCY5c.763A>C (p.Met255Leu)
c.1051A>C (p.Met351Leu)
c.2086A>C (p.Met696Leu)
n.345A>C
c.1036A>C (p.Met346Leu)
c.985A>C (p.Met329Leu)
c.1087A>C (p.Met363Leu)
c.997A>C (p.Met333Leu)
c.988A>C (p.Met330Leu)
3g.123325325C>ACA435293322ADCY5c.762G>T (p.Arg254=)
c.1050G>T (p.Arg350=)
c.2085G>T (p.Arg695=)
n.344G>T
c.1035G>T (p.Arg345=)
c.984G>T (p.Arg328=)
c.1086G>T (p.Arg362=)
c.996G>T (p.Arg332=)
c.987G>T (p.Arg329=)
 gnomAD v4
3g.123325325C>GCA435293323ADCY5c.762G>C (p.Arg254=)
c.1050G>C (p.Arg350=)
c.2085G>C (p.Arg695=)
n.344G>C
c.1035G>C (p.Arg345=)
c.984G>C (p.Arg328=)
c.1086G>C (p.Arg362=)
c.996G>C (p.Arg332=)
c.987G>C (p.Arg329=)
3g.123325325C>TCA435293324ADCY5c.762G>A (p.Arg254=)
c.1050G>A (p.Arg350=)
c.2085G>A (p.Arg695=)
n.344G>A
c.1035G>A (p.Arg345=)
c.984G>A (p.Arg328=)
c.1086G>A (p.Arg362=)
c.996G>A (p.Arg332=)
c.987G>A (p.Arg329=)
3g.123325327_123325357delCA2667293683ADCY5c.732_762del (p.Gly245TrpfsTer?)
c.1020_1050del (p.Gly341TrpfsTer?)
c.2055_2085del (p.Gly686TrpfsTer?)
n.314_344del
c.1005_1035del (p.Gly336TrpfsTer?)
c.954_984del (p.Gly319TrpfsTer?)
c.1056_1086del (p.Gly353TrpfsTer?)
c.966_996del (p.Gly323TrpfsTer?)
c.957_987del (p.Gly320TrpfsTer?)
 gnomAD v4
3g.123325326C>ACA354218251ADCY5c.761G>T (p.Arg254Leu)
c.1049G>T (p.Arg350Leu)
c.2084G>T (p.Arg695Leu)
n.343G>T
c.1034G>T (p.Arg345Leu)
c.983G>T (p.Arg328Leu)
c.1085G>T (p.Arg362Leu)
c.995G>T (p.Arg332Leu)
c.986G>T (p.Arg329Leu)
3g.123325326C=CA1398346224ADCY5c.761G= (p.Arg254=)
c.1049G= (p.Arg350=)
c.2084G= (p.Arg695=)
n.343G=
c.1034G= (p.Arg345=)
c.983G= (p.Arg328=)
c.1085G= (p.Arg362=)
c.995G= (p.Arg332=)
c.986G= (p.Arg329=)
3g.123325326C>GCA354218253ADCY5c.761G>C (p.Arg254Pro)
c.1049G>C (p.Arg350Pro)
c.2084G>C (p.Arg695Pro)
n.343G>C
c.1034G>C (p.Arg345Pro)
c.983G>C (p.Arg328Pro)
c.1085G>C (p.Arg362Pro)
c.995G>C (p.Arg332Pro)
c.986G>C (p.Arg329Pro)
 ClinVar dbSNP
3g.123325326C>TCA2577275ADCY5c.761G>A (p.Arg254Gln)
c.1049G>A (p.Arg350Gln)
c.2084G>A (p.Arg695Gln)
n.343G>A
c.1034G>A (p.Arg345Gln)
c.983G>A (p.Arg328Gln)
c.1085G>A (p.Arg362Gln)
c.995G>A (p.Arg332Gln)
c.986G>A (p.Arg329Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325327G>ACA16604794ADCY5c.760C>T (p.Arg254Trp)
c.1048C>T (p.Arg350Trp)
c.2083C>T (p.Arg695Trp)
n.342C>T
c.1033C>T (p.Arg345Trp)
c.982C>T (p.Arg328Trp)
c.1084C>T (p.Arg362Trp)
c.994C>T (p.Arg332Trp)
c.985C>T (p.Arg329Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.123325327G>CCA354218256ADCY5c.760C>G (p.Arg254Gly)
c.1048C>G (p.Arg350Gly)
c.2083C>G (p.Arg695Gly)
n.342C>G
c.1033C>G (p.Arg345Gly)
c.982C>G (p.Arg328Gly)
c.1084C>G (p.Arg362Gly)
c.994C>G (p.Arg332Gly)
c.985C>G (p.Arg329Gly)
3g.123325327G=CA1398346225ADCY5c.760C= (p.Arg254=)
c.1048C= (p.Arg350=)
c.2083C= (p.Arg695=)
n.342C=
c.1033C= (p.Arg345=)
c.982C= (p.Arg328=)
c.1084C= (p.Arg362=)
c.994C= (p.Arg332=)
c.985C= (p.Arg329=)
3g.123325327G>TCA435293325ADCY5c.760C>A (p.Arg254=)
c.1048C>A (p.Arg350=)
c.2083C>A (p.Arg695=)
n.342C>A
c.1033C>A (p.Arg345=)
c.982C>A (p.Arg328=)
c.1084C>A (p.Arg362=)
c.994C>A (p.Arg332=)
c.985C>A (p.Arg329=)
3g.123325328C>ACA354218260ADCY5c.759G>T (p.Lys253Asn)
c.1047G>T (p.Lys349Asn)
c.2082G>T (p.Lys694Asn)
n.341G>T
c.1032G>T (p.Lys344Asn)
c.981G>T (p.Lys327Asn)
c.1083G>T (p.Lys361Asn)
c.993G>T (p.Lys331Asn)
c.984G>T (p.Lys328Asn)
3g.123325328C>GCA354218261ADCY5c.759G>C (p.Lys253Asn)
c.1047G>C (p.Lys349Asn)
c.2082G>C (p.Lys694Asn)
n.341G>C
c.1032G>C (p.Lys344Asn)
c.981G>C (p.Lys327Asn)
c.1083G>C (p.Lys361Asn)
c.993G>C (p.Lys331Asn)
c.984G>C (p.Lys328Asn)
3g.123325328C>TCA435293326ADCY5c.759G>A (p.Lys253=)
c.1047G>A (p.Lys349=)
c.2082G>A (p.Lys694=)
n.341G>A
c.1032G>A (p.Lys344=)
c.981G>A (p.Lys327=)
c.1083G>A (p.Lys361=)
c.993G>A (p.Lys331=)
c.984G>A (p.Lys328=)
 gnomAD v4
3g.123325329T>ACA354218265ADCY5c.758A>T (p.Lys253Met)
c.1046A>T (p.Lys349Met)
c.2081A>T (p.Lys694Met)
n.340A>T
c.1031A>T (p.Lys344Met)
c.980A>T (p.Lys327Met)
c.1082A>T (p.Lys361Met)
c.992A>T (p.Lys331Met)
c.983A>T (p.Lys328Met)
3g.123325329T>CCA354218268ADCY5c.758A>G (p.Lys253Arg)
c.1046A>G (p.Lys349Arg)
c.2081A>G (p.Lys694Arg)
n.340A>G
c.1031A>G (p.Lys344Arg)
c.980A>G (p.Lys327Arg)
c.1082A>G (p.Lys361Arg)
c.992A>G (p.Lys331Arg)
c.983A>G (p.Lys328Arg)
3g.123325329T>GCA354218267ADCY5c.758A>C (p.Lys253Thr)
c.1046A>C (p.Lys349Thr)
c.2081A>C (p.Lys694Thr)
n.340A>C
c.1031A>C (p.Lys344Thr)
c.980A>C (p.Lys327Thr)
c.1082A>C (p.Lys361Thr)
c.992A>C (p.Lys331Thr)
c.983A>C (p.Lys328Thr)
3g.123325330T>ACA354218270ADCY5c.757A>T (p.Lys253Ter)
c.1045A>T (p.Lys349Ter)
c.2080A>T (p.Lys694Ter)
n.339A>T
c.1030A>T (p.Lys344Ter)
c.979A>T (p.Lys327Ter)
c.1081A>T (p.Lys361Ter)
c.991A>T (p.Lys331Ter)
c.982A>T (p.Lys328Ter)
 dbSNP
3g.123325330T>CCA354218273ADCY5c.757A>G (p.Lys253Glu)
c.1045A>G (p.Lys349Glu)
c.2080A>G (p.Lys694Glu)
n.339A>G
c.1030A>G (p.Lys344Glu)
c.979A>G (p.Lys327Glu)
c.1081A>G (p.Lys361Glu)
c.991A>G (p.Lys331Glu)
c.982A>G (p.Lys328Glu)
3g.123325330T>GCA354218271ADCY5c.757A>C (p.Lys253Gln)
c.1045A>C (p.Lys349Gln)
c.2080A>C (p.Lys694Gln)
n.339A>C
c.1030A>C (p.Lys344Gln)
c.979A>C (p.Lys327Gln)
c.1081A>C (p.Lys361Gln)
c.991A>C (p.Lys331Gln)
c.982A>C (p.Lys328Gln)
3g.123325330T=CA1398346226ADCY5c.757A= (p.Lys253=)
c.1045A= (p.Lys349=)
c.2080A= (p.Lys694=)
n.339A=
c.1030A= (p.Lys344=)
c.979A= (p.Lys327=)
c.1081A= (p.Lys361=)
c.991A= (p.Lys331=)
c.982A= (p.Lys328=)
3g.123325331C>ACA354218276ADCY5c.756G>T (p.Met252Ile)
c.1044G>T (p.Met348Ile)
c.2079G>T (p.Met693Ile)
n.338G>T
c.1029G>T (p.Met343Ile)
c.978G>T (p.Met326Ile)
c.1080G>T (p.Met360Ile)
c.990G>T (p.Met330Ile)
c.981G>T (p.Met327Ile)
3g.123325331C>GCA354218279ADCY5c.756G>C (p.Met252Ile)
c.1044G>C (p.Met348Ile)
c.2079G>C (p.Met693Ile)
n.338G>C
c.1029G>C (p.Met343Ile)
c.978G>C (p.Met326Ile)
c.1080G>C (p.Met360Ile)
c.990G>C (p.Met330Ile)
c.981G>C (p.Met327Ile)
3g.123325331C>TCA354218277ADCY5c.756G>A (p.Met252Ile)
c.1044G>A (p.Met348Ile)
c.2079G>A (p.Met693Ile)
n.338G>A
c.1029G>A (p.Met343Ile)
c.978G>A (p.Met326Ile)
c.1080G>A (p.Met360Ile)
c.990G>A (p.Met330Ile)
c.981G>A (p.Met327Ile)
3g.123325332A>CCA354218282ADCY5c.755T>G (p.Met252Arg)
c.1043T>G (p.Met348Arg)
c.2078T>G (p.Met693Arg)
n.337T>G
c.1028T>G (p.Met343Arg)
c.977T>G (p.Met326Arg)
c.1079T>G (p.Met360Arg)
c.989T>G (p.Met330Arg)
c.980T>G (p.Met327Arg)
3g.123325332A>GCA354218283ADCY5c.755T>C (p.Met252Thr)
c.1043T>C (p.Met348Thr)
c.2078T>C (p.Met693Thr)
n.337T>C
c.1028T>C (p.Met343Thr)
c.977T>C (p.Met326Thr)
c.1079T>C (p.Met360Thr)
c.989T>C (p.Met330Thr)
c.980T>C (p.Met327Thr)
3g.123325332A>TCA354218285ADCY5c.755T>A (p.Met252Lys)
c.1043T>A (p.Met348Lys)
c.2078T>A (p.Met693Lys)
n.337T>A
c.1028T>A (p.Met343Lys)
c.977T>A (p.Met326Lys)
c.1079T>A (p.Met360Lys)
c.989T>A (p.Met330Lys)
c.980T>A (p.Met327Lys)
3g.123325333T>ACA354218287ADCY5c.754A>T (p.Met252Leu)
c.1042A>T (p.Met348Leu)
c.2077A>T (p.Met693Leu)
n.336A>T
c.1027A>T (p.Met343Leu)
c.976A>T (p.Met326Leu)
c.1078A>T (p.Met360Leu)
c.988A>T (p.Met330Leu)
c.979A>T (p.Met327Leu)
3g.123325333T>CCA354218289ADCY5c.754A>G (p.Met252Val)
c.1042A>G (p.Met348Val)
c.2077A>G (p.Met693Val)
n.336A>G
c.1027A>G (p.Met343Val)
c.976A>G (p.Met326Val)
c.1078A>G (p.Met360Val)
c.988A>G (p.Met330Val)
c.979A>G (p.Met327Val)
3g.123325333T>GCA354218291ADCY5c.754A>C (p.Met252Leu)
c.1042A>C (p.Met348Leu)
c.2077A>C (p.Met693Leu)
n.336A>C
c.1027A>C (p.Met343Leu)
c.976A>C (p.Met326Leu)
c.1078A>C (p.Met360Leu)
c.988A>C (p.Met330Leu)
c.979A>C (p.Met327Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123325333T=CA1398346227ADCY5c.754A= (p.Met252=)
c.1042A= (p.Met348=)
c.2077A= (p.Met693=)
n.336A=
c.1027A= (p.Met343=)
c.976A= (p.Met326=)
c.1078A= (p.Met360=)
c.988A= (p.Met330=)
c.979A= (p.Met327=)
3g.123325334C>ACA354218293ADCY5c.753G>T (p.Glu251Asp)
c.1041G>T (p.Glu347Asp)
c.2076G>T (p.Glu692Asp)
n.335G>T
c.1026G>T (p.Glu342Asp)
c.975G>T (p.Glu325Asp)
c.1077G>T (p.Glu359Asp)
c.987G>T (p.Glu329Asp)
c.978G>T (p.Glu326Asp)
 gnomAD v4
3g.123325334C=CA1398346228ADCY5c.753G= (p.Glu251=)
c.1041G= (p.Glu347=)
c.2076G= (p.Glu692=)
n.335G=
c.1026G= (p.Glu342=)
c.975G= (p.Glu325=)
c.1077G= (p.Glu359=)
c.987G= (p.Glu329=)
c.978G= (p.Glu326=)
3g.123325334C>GCA354218295ADCY5c.753G>C (p.Glu251Asp)
c.1041G>C (p.Glu347Asp)
c.2076G>C (p.Glu692Asp)
n.335G>C
c.1026G>C (p.Glu342Asp)
c.975G>C (p.Glu325Asp)
c.1077G>C (p.Glu359Asp)
c.987G>C (p.Glu329Asp)
c.978G>C (p.Glu326Asp)
3g.123325334C>TCA435293327ADCY5c.753G>A (p.Glu251=)
c.1041G>A (p.Glu347=)
c.2076G>A (p.Glu692=)
n.335G>A
c.1026G>A (p.Glu342=)
c.975G>A (p.Glu325=)
c.1077G>A (p.Glu359=)
c.987G>A (p.Glu329=)
c.978G>A (p.Glu326=)
 dbSNP
3g.123325335T>ACA354218297ADCY5c.752A>T (p.Glu251Val)
c.1040A>T (p.Glu347Val)
c.2075A>T (p.Glu692Val)
n.334A>T
c.1025A>T (p.Glu342Val)
c.974A>T (p.Glu325Val)
c.1076A>T (p.Glu359Val)
c.986A>T (p.Glu329Val)
c.977A>T (p.Glu326Val)
3g.123325335T>CCA354218299ADCY5c.752A>G (p.Glu251Gly)
c.1040A>G (p.Glu347Gly)
c.2075A>G (p.Glu692Gly)
n.334A>G
c.1025A>G (p.Glu342Gly)
c.974A>G (p.Glu325Gly)
c.1076A>G (p.Glu359Gly)
c.986A>G (p.Glu329Gly)
c.977A>G (p.Glu326Gly)
 dbSNP gnomAD v2
3g.123325335T>GCA354218301ADCY5c.752A>C (p.Glu251Ala)
c.1040A>C (p.Glu347Ala)
c.2075A>C (p.Glu692Ala)
n.334A>C
c.1025A>C (p.Glu342Ala)
c.974A>C (p.Glu325Ala)
c.1076A>C (p.Glu359Ala)
c.986A>C (p.Glu329Ala)
c.977A>C (p.Glu326Ala)
3g.123325335T=CA1398346229ADCY5c.752A= (p.Glu251=)
c.1040A= (p.Glu347=)
c.2075A= (p.Glu692=)
n.334A=
c.1025A= (p.Glu342=)
c.974A= (p.Glu325=)
c.1076A= (p.Glu359=)
c.986A= (p.Glu329=)
c.977A= (p.Glu326=)
3g.123325336C>ACA354218307ADCY5c.751G>T (p.Glu251Ter)
c.1039G>T (p.Glu347Ter)
c.2074G>T (p.Glu692Ter)
n.333G>T
c.1024G>T (p.Glu342Ter)
c.973G>T (p.Glu325Ter)
c.1075G>T (p.Glu359Ter)
c.985G>T (p.Glu329Ter)
c.976G>T (p.Glu326Ter)
 dbSNP
3g.123325336C=CA1398346230ADCY5c.751G= (p.Glu251=)
c.1039G= (p.Glu347=)
c.2074G= (p.Glu692=)
n.333G=
c.1024G= (p.Glu342=)
c.973G= (p.Glu325=)
c.1075G= (p.Glu359=)
c.985G= (p.Glu329=)
c.976G= (p.Glu326=)
3g.123325336C>GCA354218303ADCY5c.751G>C (p.Glu251Gln)
c.1039G>C (p.Glu347Gln)
c.2074G>C (p.Glu692Gln)
n.333G>C
c.1024G>C (p.Glu342Gln)
c.973G>C (p.Glu325Gln)
c.1075G>C (p.Glu359Gln)
c.985G>C (p.Glu329Gln)
c.976G>C (p.Glu326Gln)
3g.123325336C>TCA354218305ADCY5c.751G>A (p.Glu251Lys)
c.1039G>A (p.Glu347Lys)
c.2074G>A (p.Glu692Lys)
n.333G>A
c.1024G>A (p.Glu342Lys)
c.973G>A (p.Glu325Lys)
c.1075G>A (p.Glu359Lys)
c.985G>A (p.Glu329Lys)
c.976G>A (p.Glu326Lys)
 ClinVar dbSNP
3g.123325337C>ACA354218310ADCY5c.750G>T (p.Lys250Asn)
c.1038G>T (p.Lys346Asn)
c.2073G>T (p.Lys691Asn)
n.332G>T
c.1023G>T (p.Lys341Asn)
c.972G>T (p.Lys324Asn)
c.1074G>T (p.Lys358Asn)
c.984G>T (p.Lys328Asn)
c.975G>T (p.Lys325Asn)
 ClinVar dbSNP
3g.123325337C=CA1398346231ADCY5c.750G= (p.Lys250=)
c.1038G= (p.Lys346=)
c.2073G= (p.Lys691=)
n.332G=
c.1023G= (p.Lys341=)
c.972G= (p.Lys324=)
c.1074G= (p.Lys358=)
c.984G= (p.Lys328=)
c.975G= (p.Lys325=)
3g.123325337C>GCA354218312ADCY5c.750G>C (p.Lys250Asn)
c.1038G>C (p.Lys346Asn)
c.2073G>C (p.Lys691Asn)
n.332G>C
c.1023G>C (p.Lys341Asn)
c.972G>C (p.Lys324Asn)
c.1074G>C (p.Lys358Asn)
c.984G>C (p.Lys328Asn)
c.975G>C (p.Lys325Asn)
3g.123325337C>TCA435293328ADCY5c.750G>A (p.Lys250=)
c.1038G>A (p.Lys346=)
c.2073G>A (p.Lys691=)
n.332G>A
c.1023G>A (p.Lys341=)
c.972G>A (p.Lys324=)
c.1074G>A (p.Lys358=)
c.984G>A (p.Lys328=)
c.975G>A (p.Lys325=)
 gnomAD v4 COSMIC
3g.123325338T>ACA354218313ADCY5c.749A>T (p.Lys250Met)
c.1037A>T (p.Lys346Met)
c.2072A>T (p.Lys691Met)
n.331A>T
c.1022A>T (p.Lys341Met)
c.971A>T (p.Lys324Met)
c.1073A>T (p.Lys358Met)
c.983A>T (p.Lys328Met)
c.974A>T (p.Lys325Met)
 ClinVar dbSNP
3g.123325338T>CCA354218315ADCY5c.749A>G (p.Lys250Arg)
c.1037A>G (p.Lys346Arg)
c.2072A>G (p.Lys691Arg)
n.331A>G
c.1022A>G (p.Lys341Arg)
c.971A>G (p.Lys324Arg)
c.1073A>G (p.Lys358Arg)
c.983A>G (p.Lys328Arg)
c.974A>G (p.Lys325Arg)
 dbSNP
3g.123325338T>GCA354218317ADCY5c.749A>C (p.Lys250Thr)
c.1037A>C (p.Lys346Thr)
c.2072A>C (p.Lys691Thr)
n.331A>C
c.1022A>C (p.Lys341Thr)
c.971A>C (p.Lys324Thr)
c.1073A>C (p.Lys358Thr)
c.983A>C (p.Lys328Thr)
c.974A>C (p.Lys325Thr)
3g.123325338T=CA1398346232ADCY5c.749A= (p.Lys250=)
c.1037A= (p.Lys346=)
c.2072A= (p.Lys691=)
n.331A=
c.1022A= (p.Lys341=)
c.971A= (p.Lys324=)
c.1073A= (p.Lys358=)
c.983A= (p.Lys328=)
c.974A= (p.Lys325=)
3g.123325339T>ACA354218319ADCY5c.748A>T (p.Lys250Ter)
c.1036A>T (p.Lys346Ter)
c.2071A>T (p.Lys691Ter)
n.330A>T
c.1021A>T (p.Lys341Ter)
c.970A>T (p.Lys324Ter)
c.1072A>T (p.Lys358Ter)
c.982A>T (p.Lys328Ter)
c.973A>T (p.Lys325Ter)
 dbSNP
3g.123325339T>CCA354218320ADCY5c.748A>G (p.Lys250Glu)
c.1036A>G (p.Lys346Glu)
c.2071A>G (p.Lys691Glu)
n.330A>G
c.1021A>G (p.Lys341Glu)
c.970A>G (p.Lys324Glu)
c.1072A>G (p.Lys358Glu)
c.982A>G (p.Lys328Glu)
c.973A>G (p.Lys325Glu)
 ClinVar dbSNP
3g.123325339T>GCA354218322ADCY5c.748A>C (p.Lys250Gln)
c.1036A>C (p.Lys346Gln)
c.2071A>C (p.Lys691Gln)
n.330A>C
c.1021A>C (p.Lys341Gln)
c.970A>C (p.Lys324Gln)
c.1072A>C (p.Lys358Gln)
c.982A>C (p.Lys328Gln)
c.973A>C (p.Lys325Gln)
3g.123325339T=CA1398346233ADCY5c.748A= (p.Lys250=)
c.1036A= (p.Lys346=)
c.2071A= (p.Lys691=)
n.330A=
c.1021A= (p.Lys341=)
c.970A= (p.Lys324=)
c.1072A= (p.Lys358=)
c.982A= (p.Lys328=)
c.973A= (p.Lys325=)
3g.123325340G>ACA435293329ADCY5c.747C>T (p.Ser249=)
c.1035C>T (p.Ser345=)
c.2070C>T (p.Ser690=)
n.329C>T
c.1020C>T (p.Ser340=)
c.969C>T (p.Ser323=)
c.1071C>T (p.Ser357=)
c.981C>T (p.Ser327=)
c.972C>T (p.Ser324=)
 ClinVar
3g.123325340G>CCA435293330ADCY5c.747C>G (p.Ser249=)
c.1035C>G (p.Ser345=)
c.2070C>G (p.Ser690=)
n.329C>G
c.1020C>G (p.Ser340=)
c.969C>G (p.Ser323=)
c.1071C>G (p.Ser357=)
c.981C>G (p.Ser327=)
c.972C>G (p.Ser324=)
3g.123325340G>TCA435293331ADCY5c.747C>A (p.Ser249=)
c.1035C>A (p.Ser345=)
c.2070C>A (p.Ser690=)
n.329C>A
c.1020C>A (p.Ser340=)
c.969C>A (p.Ser323=)
c.1071C>A (p.Ser357=)
c.981C>A (p.Ser327=)
c.972C>A (p.Ser324=)
3g.123325341G>ACA354218324ADCY5c.746C>T (p.Ser249Phe)
c.1034C>T (p.Ser345Phe)
c.2069C>T (p.Ser690Phe)
n.328C>T
c.1019C>T (p.Ser340Phe)
c.968C>T (p.Ser323Phe)
c.1070C>T (p.Ser357Phe)
c.980C>T (p.Ser327Phe)
c.971C>T (p.Ser324Phe)
3g.123325341G>CCA354218326ADCY5c.746C>G (p.Ser249Cys)
c.1034C>G (p.Ser345Cys)
c.2069C>G (p.Ser690Cys)
n.328C>G
c.1019C>G (p.Ser340Cys)
c.968C>G (p.Ser323Cys)
c.1070C>G (p.Ser357Cys)
c.980C>G (p.Ser327Cys)
c.971C>G (p.Ser324Cys)
3g.123325341G>TCA354218328ADCY5c.746C>A (p.Ser249Tyr)
c.1034C>A (p.Ser345Tyr)
c.2069C>A (p.Ser690Tyr)
n.328C>A
c.1019C>A (p.Ser340Tyr)
c.968C>A (p.Ser323Tyr)
c.1070C>A (p.Ser357Tyr)
c.980C>A (p.Ser327Tyr)
c.971C>A (p.Ser324Tyr)
3g.123325342A>CCA354218333ADCY5c.745T>G (p.Ser249Ala)
c.1033T>G (p.Ser345Ala)
c.2068T>G (p.Ser690Ala)
n.327T>G
c.1018T>G (p.Ser340Ala)
c.967T>G (p.Ser323Ala)
c.1069T>G (p.Ser357Ala)
c.979T>G (p.Ser327Ala)
c.970T>G (p.Ser324Ala)
3g.123325342A>GCA354218331ADCY5c.745T>C (p.Ser249Pro)
c.1033T>C (p.Ser345Pro)
c.2068T>C (p.Ser690Pro)
n.327T>C
c.1018T>C (p.Ser340Pro)
c.967T>C (p.Ser323Pro)
c.1069T>C (p.Ser357Pro)
c.979T>C (p.Ser327Pro)
c.970T>C (p.Ser324Pro)
 gnomAD v4
3g.123325342A>TCA354218329ADCY5c.745T>A (p.Ser249Thr)
c.1033T>A (p.Ser345Thr)
c.2068T>A (p.Ser690Thr)
n.327T>A
c.1018T>A (p.Ser340Thr)
c.967T>A (p.Ser323Thr)
c.1069T>A (p.Ser357Thr)
c.979T>A (p.Ser327Thr)
c.970T>A (p.Ser324Thr)
3g.123325343C>ACA435293332ADCY5c.744G>T (p.Val248=)
c.1032G>T (p.Val344=)
c.2067G>T (p.Val689=)
n.326G>T
c.1017G>T (p.Val339=)
c.966G>T (p.Val322=)
c.1068G>T (p.Val356=)
c.978G>T (p.Val326=)
c.969G>T (p.Val323=)
3g.123325343C>GCA435293333ADCY5c.744G>C (p.Val248=)
c.1032G>C (p.Val344=)
c.2067G>C (p.Val689=)
n.326G>C
c.1017G>C (p.Val339=)
c.966G>C (p.Val322=)
c.1068G>C (p.Val356=)
c.978G>C (p.Val326=)
c.969G>C (p.Val323=)
3g.123325343C>TCA435293334ADCY5c.744G>A (p.Val248=)
c.1032G>A (p.Val344=)
c.2067G>A (p.Val689=)
n.326G>A
c.1017G>A (p.Val339=)
c.966G>A (p.Val322=)
c.1068G>A (p.Val356=)
c.978G>A (p.Val326=)
c.969G>A (p.Val323=)
 gnomAD v4
3g.123325344A>CCA354218340ADCY5c.743T>G (p.Val248Gly)
c.1031T>G (p.Val344Gly)
c.2066T>G (p.Val689Gly)
n.325T>G
c.1016T>G (p.Val339Gly)
c.965T>G (p.Val322Gly)
c.1067T>G (p.Val356Gly)
c.977T>G (p.Val326Gly)
c.968T>G (p.Val323Gly)
3g.123325344A>GCA354218335ADCY5c.743T>C (p.Val248Ala)
c.1031T>C (p.Val344Ala)
c.2066T>C (p.Val689Ala)
n.325T>C
c.1016T>C (p.Val339Ala)
c.965T>C (p.Val322Ala)
c.1067T>C (p.Val356Ala)
c.977T>C (p.Val326Ala)
c.968T>C (p.Val323Ala)
3g.123325344A>TCA354218338ADCY5c.743T>A (p.Val248Glu)
c.1031T>A (p.Val344Glu)
c.2066T>A (p.Val689Glu)
n.325T>A
c.1016T>A (p.Val339Glu)
c.965T>A (p.Val322Glu)
c.1067T>A (p.Val356Glu)
c.977T>A (p.Val326Glu)
c.968T>A (p.Val323Glu)
3g.123325345C>ACA354218341ADCY5c.742G>T (p.Val248Leu)
c.1030G>T (p.Val344Leu)
c.2065G>T (p.Val689Leu)
n.324G>T
c.1015G>T (p.Val339Leu)
c.964G>T (p.Val322Leu)
c.1066G>T (p.Val356Leu)
c.976G>T (p.Val326Leu)
c.967G>T (p.Val323Leu)
3g.123325345C=CA1398346234ADCY5c.742G= (p.Val248=)
c.1030G= (p.Val344=)
c.2065G= (p.Val689=)
n.324G=
c.1015G= (p.Val339=)
c.964G= (p.Val322=)
c.1066G= (p.Val356=)
c.976G= (p.Val326=)
c.967G= (p.Val323=)
3g.123325345C>GCA354218342ADCY5c.742G>C (p.Val248Leu)
c.1030G>C (p.Val344Leu)
c.2065G>C (p.Val689Leu)
n.324G>C
c.1015G>C (p.Val339Leu)
c.964G>C (p.Val322Leu)
c.1066G>C (p.Val356Leu)
c.976G>C (p.Val326Leu)
c.967G>C (p.Val323Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.123325345C>TCA354218344ADCY5c.742G>A (p.Val248Met)
c.1030G>A (p.Val344Met)
c.2065G>A (p.Val689Met)
n.324G>A
c.1015G>A (p.Val339Met)
c.964G>A (p.Val322Met)
c.1066G>A (p.Val356Met)
c.976G>A (p.Val326Met)
c.967G>A (p.Val323Met)
3g.123325346C>ACA354218347ADCY5c.741G>T (p.Gln247His)
c.1029G>T (p.Gln343His)
c.2064G>T (p.Gln688His)
n.323G>T
c.1014G>T (p.Gln338His)
c.963G>T (p.Gln321His)
c.1065G>T (p.Gln355His)
c.975G>T (p.Gln325His)
c.966G>T (p.Gln322His)
3g.123325346C>GCA354218348ADCY5c.741G>C (p.Gln247His)
c.1029G>C (p.Gln343His)
c.2064G>C (p.Gln688His)
n.323G>C
c.1014G>C (p.Gln338His)
c.963G>C (p.Gln321His)
c.1065G>C (p.Gln355His)
c.975G>C (p.Gln325His)
c.966G>C (p.Gln322His)
3g.123325346C>TCA435293335ADCY5c.741G>A (p.Gln247=)
c.1029G>A (p.Gln343=)
c.2064G>A (p.Gln688=)
n.323G>A
c.1014G>A (p.Gln338=)
c.963G>A (p.Gln321=)
c.1065G>A (p.Gln355=)
c.975G>A (p.Gln325=)
c.966G>A (p.Gln322=)
3g.123325347T>ACA354218351ADCY5c.740A>T (p.Gln247Leu)
c.1028A>T (p.Gln343Leu)
c.2063A>T (p.Gln688Leu)
n.322A>T
c.1013A>T (p.Gln338Leu)
c.962A>T (p.Gln321Leu)
c.1064A>T (p.Gln355Leu)
c.974A>T (p.Gln325Leu)
c.965A>T (p.Gln322Leu)
3g.123325347T>CCA354218353ADCY5c.740A>G (p.Gln247Arg)
c.1028A>G (p.Gln343Arg)
c.2063A>G (p.Gln688Arg)
n.322A>G
c.1013A>G (p.Gln338Arg)
c.962A>G (p.Gln321Arg)
c.1064A>G (p.Gln355Arg)
c.974A>G (p.Gln325Arg)
c.965A>G (p.Gln322Arg)
3g.123325347T>GCA354218354ADCY5c.740A>C (p.Gln247Pro)
c.1028A>C (p.Gln343Pro)
c.2063A>C (p.Gln688Pro)
n.322A>C
c.1013A>C (p.Gln338Pro)
c.962A>C (p.Gln321Pro)
c.1064A>C (p.Gln355Pro)
c.974A>C (p.Gln325Pro)
c.965A>C (p.Gln322Pro)
3g.123325348G>ACA354218357ADCY5c.739C>T (p.Gln247Ter)
c.1027C>T (p.Gln343Ter)
c.2062C>T (p.Gln688Ter)
n.321C>T
c.1012C>T (p.Gln338Ter)
c.961C>T (p.Gln321Ter)
c.1063C>T (p.Gln355Ter)
c.973C>T (p.Gln325Ter)
c.964C>T (p.Gln322Ter)
 dbSNP
3g.123325348G>CCA354218359ADCY5c.739C>G (p.Gln247Glu)
c.1027C>G (p.Gln343Glu)
c.2062C>G (p.Gln688Glu)
n.321C>G
c.1012C>G (p.Gln338Glu)
c.961C>G (p.Gln321Glu)
c.1063C>G (p.Gln355Glu)
c.973C>G (p.Gln325Glu)
c.964C>G (p.Gln322Glu)
 gnomAD v4
3g.123325348G=CA1398346235ADCY5c.739C= (p.Gln247=)
c.1027C= (p.Gln343=)
c.2062C= (p.Gln688=)
n.321C=
c.1012C= (p.Gln338=)
c.961C= (p.Gln321=)
c.1063C= (p.Gln355=)
c.973C= (p.Gln325=)
c.964C= (p.Gln322=)
3g.123325348G>TCA354218360ADCY5c.739C>A (p.Gln247Lys)
c.1027C>A (p.Gln343Lys)
c.2062C>A (p.Gln688Lys)
n.321C>A
c.1012C>A (p.Gln338Lys)
c.961C>A (p.Gln321Lys)
c.1063C>A (p.Gln355Lys)
c.973C>A (p.Gln325Lys)
c.964C>A (p.Gln322Lys)
 COSMIC
3g.123325349G>ACA2577276ADCY5c.738C>T (p.Asn246=)
c.1026C>T (p.Asn342=)
c.2061C>T (p.Asn687=)
n.320C>T
c.1011C>T (p.Asn337=)
c.960C>T (p.Asn320=)
c.1062C>T (p.Asn354=)
c.972C>T (p.Asn324=)
c.963C>T (p.Asn321=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325349G>CCA354218363ADCY5c.738C>G (p.Asn246Lys)
c.1026C>G (p.Asn342Lys)
c.2061C>G (p.Asn687Lys)
n.320C>G
c.1011C>G (p.Asn337Lys)
c.960C>G (p.Asn320Lys)
c.1062C>G (p.Asn354Lys)
c.972C>G (p.Asn324Lys)
c.963C>G (p.Asn321Lys)
3g.123325349G=CA1398346236ADCY5c.738C= (p.Asn246=)
c.1026C= (p.Asn342=)
c.2061C= (p.Asn687=)
n.320C=
c.1011C= (p.Asn337=)
c.960C= (p.Asn320=)
c.1062C= (p.Asn354=)
c.972C= (p.Asn324=)
c.963C= (p.Asn321=)
3g.123325349G>TCA354218364ADCY5c.738C>A (p.Asn246Lys)
c.1026C>A (p.Asn342Lys)
c.2061C>A (p.Asn687Lys)
n.320C>A
c.1011C>A (p.Asn337Lys)
c.960C>A (p.Asn320Lys)
c.1062C>A (p.Asn354Lys)
c.972C>A (p.Asn324Lys)
c.963C>A (p.Asn321Lys)
3g.123325350T>ACA354218367ADCY5c.737A>T (p.Asn246Ile)
c.1025A>T (p.Asn342Ile)
c.2060A>T (p.Asn687Ile)
n.319A>T
c.1010A>T (p.Asn337Ile)
c.959A>T (p.Asn320Ile)
c.1061A>T (p.Asn354Ile)
c.971A>T (p.Asn324Ile)
c.962A>T (p.Asn321Ile)
3g.123325350T>CCA354218368ADCY5c.737A>G (p.Asn246Ser)
c.1025A>G (p.Asn342Ser)
c.2060A>G (p.Asn687Ser)
n.319A>G
c.1010A>G (p.Asn337Ser)
c.959A>G (p.Asn320Ser)
c.1061A>G (p.Asn354Ser)
c.971A>G (p.Asn324Ser)
c.962A>G (p.Asn321Ser)
 gnomAD v4
3g.123325350T>GCA354218370ADCY5c.737A>C (p.Asn246Thr)
c.1025A>C (p.Asn342Thr)
c.2060A>C (p.Asn687Thr)
n.319A>C
c.1010A>C (p.Asn337Thr)
c.959A>C (p.Asn320Thr)
c.1061A>C (p.Asn354Thr)
c.971A>C (p.Asn324Thr)
c.962A>C (p.Asn321Thr)
3g.123325351T>ACA354218373ADCY5c.736A>T (p.Asn246Tyr)
c.1024A>T (p.Asn342Tyr)
c.2059A>T (p.Asn687Tyr)
n.318A>T
c.1009A>T (p.Asn337Tyr)
c.958A>T (p.Asn320Tyr)
c.1060A>T (p.Asn354Tyr)
c.970A>T (p.Asn324Tyr)
c.961A>T (p.Asn321Tyr)
3g.123325351T>CCA354218374ADCY5c.736A>G (p.Asn246Asp)
c.1024A>G (p.Asn342Asp)
c.2059A>G (p.Asn687Asp)
n.318A>G
c.1009A>G (p.Asn337Asp)
c.958A>G (p.Asn320Asp)
c.1060A>G (p.Asn354Asp)
c.970A>G (p.Asn324Asp)
c.961A>G (p.Asn321Asp)
3g.123325351T>GCA354218376ADCY5c.736A>C (p.Asn246His)
c.1024A>C (p.Asn342His)
c.2059A>C (p.Asn687His)
n.318A>C
c.1009A>C (p.Asn337His)
c.958A>C (p.Asn320His)
c.1060A>C (p.Asn354His)
c.970A>C (p.Asn324His)
c.961A>C (p.Asn321His)
3g.123325352G>ACA435293336ADCY5c.735C>T (p.Gly245=)
c.1023C>T (p.Gly341=)
c.2058C>T (p.Gly686=)
n.317C>T
c.1008C>T (p.Gly336=)
c.957C>T (p.Gly319=)
c.1059C>T (p.Gly353=)
c.969C>T (p.Gly323=)
c.960C>T (p.Gly320=)
 gnomAD v4
3g.123325352G>CCA435293337ADCY5c.735C>G (p.Gly245=)
c.1023C>G (p.Gly341=)
c.2058C>G (p.Gly686=)
n.317C>G
c.1008C>G (p.Gly336=)
c.957C>G (p.Gly319=)
c.1059C>G (p.Gly353=)
c.969C>G (p.Gly323=)
c.960C>G (p.Gly320=)
3g.123325352G>TCA435293338ADCY5c.735C>A (p.Gly245=)
c.1023C>A (p.Gly341=)
c.2058C>A (p.Gly686=)
n.317C>A
c.1008C>A (p.Gly336=)
c.957C>A (p.Gly319=)
c.1059C>A (p.Gly353=)
c.969C>A (p.Gly323=)
c.960C>A (p.Gly320=)
 COSMIC
3g.123325353C>ACA354218379ADCY5c.734G>T (p.Gly245Val)
c.1022G>T (p.Gly341Val)
c.2057G>T (p.Gly686Val)
n.316G>T
c.1007G>T (p.Gly336Val)
c.956G>T (p.Gly319Val)
c.1058G>T (p.Gly353Val)
c.968G>T (p.Gly323Val)
c.959G>T (p.Gly320Val)
3g.123325353C=CA1398346237ADCY5c.734G= (p.Gly245=)
c.1022G= (p.Gly341=)
c.2057G= (p.Gly686=)
n.316G=
c.1007G= (p.Gly336=)
c.956G= (p.Gly319=)
c.1058G= (p.Gly353=)
c.968G= (p.Gly323=)
c.959G= (p.Gly320=)
3g.123325353C>GCA354218381ADCY5c.734G>C (p.Gly245Ala)
c.1022G>C (p.Gly341Ala)
c.2057G>C (p.Gly686Ala)
n.316G>C
c.1007G>C (p.Gly336Ala)
c.956G>C (p.Gly319Ala)
c.1058G>C (p.Gly353Ala)
c.968G>C (p.Gly323Ala)
c.959G>C (p.Gly320Ala)
3g.123325353C>TCA2577277ADCY5c.734G>A (p.Gly245Asp)
c.1022G>A (p.Gly341Asp)
c.2057G>A (p.Gly686Asp)
n.316G>A
c.1007G>A (p.Gly336Asp)
c.956G>A (p.Gly319Asp)
c.1058G>A (p.Gly353Asp)
c.968G>A (p.Gly323Asp)
c.959G>A (p.Gly320Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325354C>ACA354218383ADCY5c.733G>T (p.Gly245Cys)
c.1021G>T (p.Gly341Cys)
c.2056G>T (p.Gly686Cys)
n.315G>T
c.1006G>T (p.Gly336Cys)
c.955G>T (p.Gly319Cys)
c.1057G>T (p.Gly353Cys)
c.967G>T (p.Gly323Cys)
c.958G>T (p.Gly320Cys)
 gnomAD v4
3g.123325354C>GCA354218384ADCY5c.733G>C (p.Gly245Arg)
c.1021G>C (p.Gly341Arg)
c.2056G>C (p.Gly686Arg)
n.315G>C
c.1006G>C (p.Gly336Arg)
c.955G>C (p.Gly319Arg)
c.1057G>C (p.Gly353Arg)
c.967G>C (p.Gly323Arg)
c.958G>C (p.Gly320Arg)
3g.123325354C>TCA354218387ADCY5c.733G>A (p.Gly245Ser)
c.1021G>A (p.Gly341Ser)
c.2056G>A (p.Gly686Ser)
n.315G>A
c.1006G>A (p.Gly336Ser)
c.955G>A (p.Gly319Ser)
c.1057G>A (p.Gly353Ser)
c.967G>A (p.Gly323Ser)
c.958G>A (p.Gly320Ser)
3g.123325355A>CCA435293341ADCY5c.732T>G (p.Gly244=)
c.1020T>G (p.Gly340=)
c.2055T>G (p.Gly685=)
n.314T>G
c.1005T>G (p.Gly335=)
c.954T>G (p.Gly318=)
c.1056T>G (p.Gly352=)
c.966T>G (p.Gly322=)
c.957T>G (p.Gly319=)
3g.123325355A>GCA435293340ADCY5c.732T>C (p.Gly244=)
c.1020T>C (p.Gly340=)
c.2055T>C (p.Gly685=)
n.314T>C
c.1005T>C (p.Gly335=)
c.954T>C (p.Gly318=)
c.1056T>C (p.Gly352=)
c.966T>C (p.Gly322=)
c.957T>C (p.Gly319=)
3g.123325355A>TCA435293339ADCY5c.732T>A (p.Gly244=)
c.1020T>A (p.Gly340=)
c.2055T>A (p.Gly685=)
n.314T>A
c.1005T>A (p.Gly335=)
c.954T>A (p.Gly318=)
c.1056T>A (p.Gly352=)
c.966T>A (p.Gly322=)
c.957T>A (p.Gly319=)
3g.123325356C>ACA354218391ADCY5c.731G>T (p.Gly244Val)
c.1019G>T (p.Gly340Val)
c.2054G>T (p.Gly685Val)
n.313G>T
c.1004G>T (p.Gly335Val)
c.953G>T (p.Gly318Val)
c.1055G>T (p.Gly352Val)
c.965G>T (p.Gly322Val)
c.956G>T (p.Gly319Val)
 dbSNP gnomAD v3 gnomAD v4
3g.123325356C=CA1398346238ADCY5c.731G= (p.Gly244=)
c.1019G= (p.Gly340=)
c.2054G= (p.Gly685=)
n.313G=
c.1004G= (p.Gly335=)
c.953G= (p.Gly318=)
c.1055G= (p.Gly352=)
c.965G= (p.Gly322=)
c.956G= (p.Gly319=)
3g.123325356C>GCA354218393ADCY5c.731G>C (p.Gly244Ala)
c.1019G>C (p.Gly340Ala)
c.2054G>C (p.Gly685Ala)
n.313G>C
c.1004G>C (p.Gly335Ala)
c.953G>C (p.Gly318Ala)
c.1055G>C (p.Gly352Ala)
c.965G>C (p.Gly322Ala)
c.956G>C (p.Gly319Ala)
3g.123325356C>TCA354218389ADCY5c.731G>A (p.Gly244Asp)
c.1019G>A (p.Gly340Asp)
c.2054G>A (p.Gly685Asp)
n.313G>A
c.1004G>A (p.Gly335Asp)
c.953G>A (p.Gly318Asp)
c.1055G>A (p.Gly352Asp)
c.965G>A (p.Gly322Asp)
c.956G>A (p.Gly319Asp)
 dbSNP
3g.123325357C>ACA354218395ADCY5c.730G>T (p.Gly244Cys)
c.1018G>T (p.Gly340Cys)
c.2053G>T (p.Gly685Cys)
n.312G>T
c.1003G>T (p.Gly335Cys)
c.952G>T (p.Gly318Cys)
c.1054G>T (p.Gly352Cys)
c.964G>T (p.Gly322Cys)
c.955G>T (p.Gly319Cys)
3g.123325357C>GCA354218399ADCY5c.730G>C (p.Gly244Arg)
c.1018G>C (p.Gly340Arg)
c.2053G>C (p.Gly685Arg)
n.312G>C
c.1003G>C (p.Gly335Arg)
c.952G>C (p.Gly318Arg)
c.1054G>C (p.Gly352Arg)
c.964G>C (p.Gly322Arg)
c.955G>C (p.Gly319Arg)
3g.123325357C>TCA354218397ADCY5c.730G>A (p.Gly244Ser)
c.1018G>A (p.Gly340Ser)
c.2053G>A (p.Gly685Ser)
n.312G>A
c.1003G>A (p.Gly335Ser)
c.952G>A (p.Gly318Ser)
c.1054G>A (p.Gly352Ser)
c.964G>A (p.Gly322Ser)
c.955G>A (p.Gly319Ser)
 gnomAD v4
3g.123325358C>ACA435293342ADCY5c.729G>T (p.Leu243=)
c.1017G>T (p.Leu339=)
c.2052G>T (p.Leu684=)
n.311G>T
c.1002G>T (p.Leu334=)
c.951G>T (p.Leu317=)
c.1053G>T (p.Leu351=)
c.963G>T (p.Leu321=)
c.954G>T (p.Leu318=)
3g.123325358C=CA1398346239ADCY5c.729G= (p.Leu243=)
c.1017G= (p.Leu339=)
c.2052G= (p.Leu684=)
n.311G=
c.1002G= (p.Leu334=)
c.951G= (p.Leu317=)
c.1053G= (p.Leu351=)
c.963G= (p.Leu321=)
c.954G= (p.Leu318=)
3g.123325358C>GCA435293343ADCY5c.729G>C (p.Leu243=)
c.1017G>C (p.Leu339=)
c.2052G>C (p.Leu684=)
n.311G>C
c.1002G>C (p.Leu334=)
c.951G>C (p.Leu317=)
c.1053G>C (p.Leu351=)
c.963G>C (p.Leu321=)
c.954G>C (p.Leu318=)
3g.123325358C>TCA435293344ADCY5c.729G>A (p.Leu243=)
c.1017G>A (p.Leu339=)
c.2052G>A (p.Leu684=)
n.311G>A
c.1002G>A (p.Leu334=)
c.951G>A (p.Leu317=)
c.1053G>A (p.Leu351=)
c.963G>A (p.Leu321=)
c.954G>A (p.Leu318=)
 dbSNP gnomAD v2 gnomAD v4
3g.123325359A>CCA354218401ADCY5c.728T>G (p.Leu243Arg)
c.1016T>G (p.Leu339Arg)
c.2051T>G (p.Leu684Arg)
n.310T>G
c.1001T>G (p.Leu334Arg)
c.950T>G (p.Leu317Arg)
c.1052T>G (p.Leu351Arg)
c.962T>G (p.Leu321Arg)
c.953T>G (p.Leu318Arg)
3g.123325359A>GCA354218403ADCY5c.728T>C (p.Leu243Pro)
c.1016T>C (p.Leu339Pro)
c.2051T>C (p.Leu684Pro)
n.310T>C
c.1001T>C (p.Leu334Pro)
c.950T>C (p.Leu317Pro)
c.1052T>C (p.Leu351Pro)
c.962T>C (p.Leu321Pro)
c.953T>C (p.Leu318Pro)
3g.123325359A>TCA354218405ADCY5c.728T>A (p.Leu243Gln)
c.1016T>A (p.Leu339Gln)
c.2051T>A (p.Leu684Gln)
n.310T>A
c.1001T>A (p.Leu334Gln)
c.950T>A (p.Leu317Gln)
c.1052T>A (p.Leu351Gln)
c.962T>A (p.Leu321Gln)
c.953T>A (p.Leu318Gln)
3g.123325360G>ACA435293345ADCY5c.727C>T (p.Leu243=)
c.1015C>T (p.Leu339=)
c.2050C>T (p.Leu684=)
n.309C>T
c.1000C>T (p.Leu334=)
c.949C>T (p.Leu317=)
c.1051C>T (p.Leu351=)
c.961C>T (p.Leu321=)
c.952C>T (p.Leu318=)
 dbSNP
3g.123325360G>CCA354218407ADCY5c.727C>G (p.Leu243Val)
c.1015C>G (p.Leu339Val)
c.2050C>G (p.Leu684Val)
n.309C>G
c.1000C>G (p.Leu334Val)
c.949C>G (p.Leu317Val)
c.1051C>G (p.Leu351Val)
c.961C>G (p.Leu321Val)
c.952C>G (p.Leu318Val)
3g.123325360G>TCA354218408ADCY5c.727C>A (p.Leu243Met)
c.1015C>A (p.Leu339Met)
c.2050C>A (p.Leu684Met)
n.309C>A
c.1000C>A (p.Leu334Met)
c.949C>A (p.Leu317Met)
c.1051C>A (p.Leu351Met)
c.961C>A (p.Leu321Met)
c.952C>A (p.Leu318Met)
3g.123325361G>ACA435293346ADCY5c.726C>T (p.His242=)
c.1014C>T (p.His338=)
c.2049C>T (p.His683=)
n.308C>T
c.999C>T (p.His333=)
c.948C>T (p.His316=)
c.1050C>T (p.His350=)
c.960C>T (p.His320=)
c.951C>T (p.His317=)
 dbSNP
3g.123325361G>CCA354218410ADCY5c.726C>G (p.His242Gln)
c.1014C>G (p.His338Gln)
c.2049C>G (p.His683Gln)
n.308C>G
c.999C>G (p.His333Gln)
c.948C>G (p.His316Gln)
c.1050C>G (p.His350Gln)
c.960C>G (p.His320Gln)
c.951C>G (p.His317Gln)
3g.123325361G=CA1398346240ADCY5c.726C= (p.His242=)
c.1014C= (p.His338=)
c.2049C= (p.His683=)
n.308C=
c.999C= (p.His333=)
c.948C= (p.His316=)
c.1050C= (p.His350=)
c.960C= (p.His320=)
c.951C= (p.His317=)
3g.123325361G>TCA354218412ADCY5c.726C>A (p.His242Gln)
c.1014C>A (p.His338Gln)
c.2049C>A (p.His683Gln)
n.308C>A
c.999C>A (p.His333Gln)
c.948C>A (p.His316Gln)
c.1050C>A (p.His350Gln)
c.960C>A (p.His320Gln)
c.951C>A (p.His317Gln)
3g.123325362T>ACA354218414ADCY5c.725A>T (p.His242Leu)
c.1013A>T (p.His338Leu)
c.2048A>T (p.His683Leu)
n.307A>T
c.998A>T (p.His333Leu)
c.947A>T (p.His316Leu)
c.1049A>T (p.His350Leu)
c.959A>T (p.His320Leu)
c.950A>T (p.His317Leu)
3g.123325362T>CCA354218416ADCY5c.725A>G (p.His242Arg)
c.1013A>G (p.His338Arg)
c.2048A>G (p.His683Arg)
n.307A>G
c.998A>G (p.His333Arg)
c.947A>G (p.His316Arg)
c.1049A>G (p.His350Arg)
c.959A>G (p.His320Arg)
c.950A>G (p.His317Arg)
 gnomAD v4
3g.123325362T>GCA354218418ADCY5c.725A>C (p.His242Pro)
c.1013A>C (p.His338Pro)
c.2048A>C (p.His683Pro)
n.307A>C
c.998A>C (p.His333Pro)
c.947A>C (p.His316Pro)
c.1049A>C (p.His350Pro)
c.959A>C (p.His320Pro)
c.950A>C (p.His317Pro)
3g.123325362_123325363delinsTGCA1398346241ADCY5c.724_725delinsCA (p.His242=)
c.1012_1013delinsCA (p.His338=)
c.2047_2048delinsCA (p.His683=)
n.306_307delinsCA
c.997_998delinsCA (p.His333=)
c.946_947delinsCA (p.His316=)
c.1048_1049delinsCA (p.His350=)
c.958_959delinsCA (p.His320=)
c.949_950delinsCA (p.His317=)
3g.123325363G>ACA354218424ADCY5c.724C>T (p.His242Tyr)
c.1012C>T (p.His338Tyr)
c.2047C>T (p.His683Tyr)
n.306C>T
c.997C>T (p.His333Tyr)
c.946C>T (p.His316Tyr)
c.1048C>T (p.His350Tyr)
c.958C>T (p.His320Tyr)
c.949C>T (p.His317Tyr)
 dbSNP gnomAD v2
3g.123325363G>CCA354218423ADCY5c.724C>G (p.His242Asp)
c.1012C>G (p.His338Asp)
c.2047C>G (p.His683Asp)
n.306C>G
c.997C>G (p.His333Asp)
c.946C>G (p.His316Asp)
c.1048C>G (p.His350Asp)
c.958C>G (p.His320Asp)
c.949C>G (p.His317Asp)
 gnomAD v4
3g.123325363G=CA1398346242ADCY5c.724C= (p.His242=)
c.1012C= (p.His338=)
c.2047C= (p.His683=)
n.306C=
c.997C= (p.His333=)
c.946C= (p.His316=)
c.1048C= (p.His350=)
c.958C= (p.His320=)
c.949C= (p.His317=)
3g.123325363G>TCA354218421ADCY5c.724C>A (p.His242Asn)
c.1012C>A (p.His338Asn)
c.2047C>A (p.His683Asn)
n.306C>A
c.997C>A (p.His333Asn)
c.946C>A (p.His316Asn)
c.1048C>A (p.His350Asn)
c.958C>A (p.His320Asn)
c.949C>A (p.His317Asn)
3g.123325364delCA2577278ADCY5c.724del (p.His242ThrfsTer11)
c.1012del (p.His338ThrfsTer11)
c.2047del (p.His683ThrfsTer11)
n.306del
c.997del (p.His333ThrfsTer11)
c.946del (p.His316ThrfsTer11)
c.1048del (p.His350ThrfsTer11)
c.958del (p.His320ThrfsTer11)
c.949del (p.His317ThrfsTer11)
 dbSNP ExAC gnomAD v2
3g.123325364G>ACA435293347ADCY5c.723C>T (p.Asn241=)
c.1011C>T (p.Asn337=)
c.2046C>T (p.Asn682=)
n.305C>T
c.996C>T (p.Asn332=)
c.945C>T (p.Asn315=)
c.1047C>T (p.Asn349=)
c.957C>T (p.Asn319=)
c.948C>T (p.Asn316=)
 gnomAD v4
3g.123325364G>CCA354218425ADCY5c.723C>G (p.Asn241Lys)
c.1011C>G (p.Asn337Lys)
c.2046C>G (p.Asn682Lys)
n.305C>G
c.996C>G (p.Asn332Lys)
c.945C>G (p.Asn315Lys)
c.1047C>G (p.Asn349Lys)
c.957C>G (p.Asn319Lys)
c.948C>G (p.Asn316Lys)
3g.123325364G>TCA354218426ADCY5c.723C>A (p.Asn241Lys)
c.1011C>A (p.Asn337Lys)
c.2046C>A (p.Asn682Lys)
n.305C>A
c.996C>A (p.Asn332Lys)
c.945C>A (p.Asn315Lys)
c.1047C>A (p.Asn349Lys)
c.957C>A (p.Asn319Lys)
c.948C>A (p.Asn316Lys)
3g.123325365T>ACA354218427ADCY5c.722A>T (p.Asn241Ile)
c.1010A>T (p.Asn337Ile)
c.2045A>T (p.Asn682Ile)
n.304A>T
c.995A>T (p.Asn332Ile)
c.944A>T (p.Asn315Ile)
c.1046A>T (p.Asn349Ile)
c.956A>T (p.Asn319Ile)
c.947A>T (p.Asn316Ile)
3g.123325365T>CCA82899283ADCY5c.722A>G (p.Asn241Ser)
c.1010A>G (p.Asn337Ser)
c.2045A>G (p.Asn682Ser)
n.304A>G
c.995A>G (p.Asn332Ser)
c.944A>G (p.Asn315Ser)
c.1046A>G (p.Asn349Ser)
c.956A>G (p.Asn319Ser)
c.947A>G (p.Asn316Ser)
 dbSNP
3g.123325365T>GCA354218428ADCY5c.722A>C (p.Asn241Thr)
c.1010A>C (p.Asn337Thr)
c.2045A>C (p.Asn682Thr)
n.304A>C
c.995A>C (p.Asn332Thr)
c.944A>C (p.Asn315Thr)
c.1046A>C (p.Asn349Thr)
c.956A>C (p.Asn319Thr)
c.947A>C (p.Asn316Thr)
3g.123325365T=CA1398346243ADCY5c.722A= (p.Asn241=)
c.1010A= (p.Asn337=)
c.2045A= (p.Asn682=)
n.304A=
c.995A= (p.Asn332=)
c.944A= (p.Asn315=)
c.1046A= (p.Asn349=)
c.956A= (p.Asn319=)
c.947A= (p.Asn316=)
3g.123325366T>ACA354218429ADCY5c.721A>T (p.Asn241Tyr)
c.1009A>T (p.Asn337Tyr)
c.2044A>T (p.Asn682Tyr)
n.303A>T
c.994A>T (p.Asn332Tyr)
c.943A>T (p.Asn315Tyr)
c.1045A>T (p.Asn349Tyr)
c.955A>T (p.Asn319Tyr)
c.946A>T (p.Asn316Tyr)
3g.123325366T>CCA354218430ADCY5c.721A>G (p.Asn241Asp)
c.1009A>G (p.Asn337Asp)
c.2044A>G (p.Asn682Asp)
n.303A>G
c.994A>G (p.Asn332Asp)
c.943A>G (p.Asn315Asp)
c.1045A>G (p.Asn349Asp)
c.955A>G (p.Asn319Asp)
c.946A>G (p.Asn316Asp)
3g.123325366T>GCA354218431ADCY5c.721A>C (p.Asn241His)
c.1009A>C (p.Asn337His)
c.2044A>C (p.Asn682His)
n.303A>C
c.994A>C (p.Asn332His)
c.943A>C (p.Asn315His)
c.1045A>C (p.Asn349His)
c.955A>C (p.Asn319His)
c.946A>C (p.Asn316His)
3g.123325367G>ACA435293348ADCY5c.720C>T (p.Tyr240=)
c.1008C>T (p.Tyr336=)
c.2043C>T (p.Tyr681=)
n.302C>T
c.993C>T (p.Tyr331=)
c.942C>T (p.Tyr314=)
c.1044C>T (p.Tyr348=)
c.954C>T (p.Tyr318=)
c.945C>T (p.Tyr315=)
 dbSNP gnomAD v3 gnomAD v4
3g.123325367G>CCA354218432ADCY5c.720C>G (p.Tyr240Ter)
c.1008C>G (p.Tyr336Ter)
c.2043C>G (p.Tyr681Ter)
n.302C>G
c.993C>G (p.Tyr331Ter)
c.942C>G (p.Tyr314Ter)
c.1044C>G (p.Tyr348Ter)
c.954C>G (p.Tyr318Ter)
c.945C>G (p.Tyr315Ter)
3g.123325367G=CA1398346244ADCY5c.720C= (p.Tyr240=)
c.1008C= (p.Tyr336=)
c.2043C= (p.Tyr681=)
n.302C=
c.993C= (p.Tyr331=)
c.942C= (p.Tyr314=)
c.1044C= (p.Tyr348=)
c.954C= (p.Tyr318=)
c.945C= (p.Tyr315=)
3g.123325367G>TCA354218433ADCY5c.720C>A (p.Tyr240Ter)
c.1008C>A (p.Tyr336Ter)
c.2043C>A (p.Tyr681Ter)
n.302C>A
c.993C>A (p.Tyr331Ter)
c.942C>A (p.Tyr314Ter)
c.1044C>A (p.Tyr348Ter)
c.954C>A (p.Tyr318Ter)
c.945C>A (p.Tyr315Ter)
3g.123325368T>ACA354218435ADCY5c.719A>T (p.Tyr240Phe)
c.1007A>T (p.Tyr336Phe)
c.2042A>T (p.Tyr681Phe)
n.301A>T
c.992A>T (p.Tyr331Phe)
c.941A>T (p.Tyr314Phe)
c.1043A>T (p.Tyr348Phe)
c.953A>T (p.Tyr318Phe)
c.944A>T (p.Tyr315Phe)
3g.123325368T>CCA2577279ADCY5c.719A>G (p.Tyr240Cys)
c.1007A>G (p.Tyr336Cys)
c.2042A>G (p.Tyr681Cys)
n.301A>G
c.992A>G (p.Tyr331Cys)
c.941A>G (p.Tyr314Cys)
c.1043A>G (p.Tyr348Cys)
c.953A>G (p.Tyr318Cys)
c.944A>G (p.Tyr315Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325368T>GCA354218434ADCY5c.719A>C (p.Tyr240Ser)
c.1007A>C (p.Tyr336Ser)
c.2042A>C (p.Tyr681Ser)
n.301A>C
c.992A>C (p.Tyr331Ser)
c.941A>C (p.Tyr314Ser)
c.1043A>C (p.Tyr348Ser)
c.953A>C (p.Tyr318Ser)
c.944A>C (p.Tyr315Ser)
3g.123325368T=CA1398346245ADCY5c.719A= (p.Tyr240=)
c.1007A= (p.Tyr336=)
c.2042A= (p.Tyr681=)
n.301A=
c.992A= (p.Tyr331=)
c.941A= (p.Tyr314=)
c.1043A= (p.Tyr348=)
c.953A= (p.Tyr318=)
c.944A= (p.Tyr315=)
3g.123325369A>CCA354218436ADCY5c.718T>G (p.Tyr240Asp)
c.1006T>G (p.Tyr336Asp)
c.2041T>G (p.Tyr681Asp)
n.300T>G
c.991T>G (p.Tyr331Asp)
c.940T>G (p.Tyr314Asp)
c.1042T>G (p.Tyr348Asp)
c.952T>G (p.Tyr318Asp)
c.943T>G (p.Tyr315Asp)
3g.123325369A>GCA354218437ADCY5c.718T>C (p.Tyr240His)
c.1006T>C (p.Tyr336His)
c.2041T>C (p.Tyr681His)
n.300T>C
c.991T>C (p.Tyr331His)
c.940T>C (p.Tyr314His)
c.1042T>C (p.Tyr348His)
c.952T>C (p.Tyr318His)
c.943T>C (p.Tyr315His)
3g.123325369A>TCA354218438ADCY5c.718T>A (p.Tyr240Asn)
c.1006T>A (p.Tyr336Asn)
c.2041T>A (p.Tyr681Asn)
n.300T>A
c.991T>A (p.Tyr331Asn)
c.940T>A (p.Tyr314Asn)
c.1042T>A (p.Tyr348Asn)
c.952T>A (p.Tyr318Asn)
c.943T>A (p.Tyr315Asn)
3g.123325370G>ACA435293349ADCY5c.717C>T (p.Phe239=)
c.1005C>T (p.Phe335=)
c.2040C>T (p.Phe680=)
n.299C>T
c.990C>T (p.Phe330=)
c.939C>T (p.Phe313=)
c.1041C>T (p.Phe347=)
c.951C>T (p.Phe317=)
c.942C>T (p.Phe314=)
3g.123325370G>CCA354218439ADCY5c.717C>G (p.Phe239Leu)
c.1005C>G (p.Phe335Leu)
c.2040C>G (p.Phe680Leu)
n.299C>G
c.990C>G (p.Phe330Leu)
c.939C>G (p.Phe313Leu)
c.1041C>G (p.Phe347Leu)
c.951C>G (p.Phe317Leu)
c.942C>G (p.Phe314Leu)
3g.123325370G>TCA354218440ADCY5c.717C>A (p.Phe239Leu)
c.1005C>A (p.Phe335Leu)
c.2040C>A (p.Phe680Leu)
n.299C>A
c.990C>A (p.Phe330Leu)
c.939C>A (p.Phe313Leu)
c.1041C>A (p.Phe347Leu)
c.951C>A (p.Phe317Leu)
c.942C>A (p.Phe314Leu)
3g.123325371A>CCA354218441ADCY5c.716T>G (p.Phe239Cys)
c.1004T>G (p.Phe335Cys)
c.2039T>G (p.Phe680Cys)
n.298T>G
c.989T>G (p.Phe330Cys)
c.938T>G (p.Phe313Cys)
c.1040T>G (p.Phe347Cys)
c.950T>G (p.Phe317Cys)
c.941T>G (p.Phe314Cys)
3g.123325371A>GCA354218442ADCY5c.716T>C (p.Phe239Ser)
c.1004T>C (p.Phe335Ser)
c.2039T>C (p.Phe680Ser)
n.298T>C
c.989T>C (p.Phe330Ser)
c.938T>C (p.Phe313Ser)
c.1040T>C (p.Phe347Ser)
c.950T>C (p.Phe317Ser)
c.941T>C (p.Phe314Ser)
3g.123325371A>TCA354218443ADCY5c.716T>A (p.Phe239Tyr)
c.1004T>A (p.Phe335Tyr)
c.2039T>A (p.Phe680Tyr)
n.298T>A
c.989T>A (p.Phe330Tyr)
c.938T>A (p.Phe313Tyr)
c.1040T>A (p.Phe347Tyr)
c.950T>A (p.Phe317Tyr)
c.941T>A (p.Phe314Tyr)
3g.123325372A>CCA354218444ADCY5c.715T>G (p.Phe239Val)
c.1003T>G (p.Phe335Val)
c.2038T>G (p.Phe680Val)
n.297T>G
c.988T>G (p.Phe330Val)
c.937T>G (p.Phe313Val)
c.1039T>G (p.Phe347Val)
c.949T>G (p.Phe317Val)
c.940T>G (p.Phe314Val)
3g.123325372A>GCA354218445ADCY5c.715T>C (p.Phe239Leu)
c.1003T>C (p.Phe335Leu)
c.2038T>C (p.Phe680Leu)
n.297T>C
c.988T>C (p.Phe330Leu)
c.937T>C (p.Phe313Leu)
c.1039T>C (p.Phe347Leu)
c.949T>C (p.Phe317Leu)
c.940T>C (p.Phe314Leu)
3g.123325372A>TCA354218446ADCY5c.715T>A (p.Phe239Ile)
c.1003T>A (p.Phe335Ile)
c.2038T>A (p.Phe680Ile)
n.297T>A
c.988T>A (p.Phe330Ile)
c.937T>A (p.Phe313Ile)
c.1039T>A (p.Phe347Ile)
c.949T>A (p.Phe317Ile)
c.940T>A (p.Phe314Ile)
3g.123325373G>ACA2577280ADCY5c.714C>T (p.Pro238=)
c.1002C>T (p.Pro334=)
c.2037C>T (p.Pro679=)
n.296C>T
c.987C>T (p.Pro329=)
c.936C>T (p.Pro312=)
c.1038C>T (p.Pro346=)
c.948C>T (p.Pro316=)
c.939C>T (p.Pro313=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325373G>CCA435293350ADCY5c.714C>G (p.Pro238=)
c.1002C>G (p.Pro334=)
c.2037C>G (p.Pro679=)
n.296C>G
c.987C>G (p.Pro329=)
c.936C>G (p.Pro312=)
c.1038C>G (p.Pro346=)
c.948C>G (p.Pro316=)
c.939C>G (p.Pro313=)
 dbSNP
3g.123325373G=CA1398346246ADCY5c.714C= (p.Pro238=)
c.1002C= (p.Pro334=)
c.2037C= (p.Pro679=)
n.296C=
c.987C= (p.Pro329=)
c.936C= (p.Pro312=)
c.1038C= (p.Pro346=)
c.948C= (p.Pro316=)
c.939C= (p.Pro313=)
3g.123325373G>TCA435293351ADCY5c.714C>A (p.Pro238=)
c.1002C>A (p.Pro334=)
c.2037C>A (p.Pro679=)
n.296C>A
c.987C>A (p.Pro329=)
c.936C>A (p.Pro312=)
c.1038C>A (p.Pro346=)
c.948C>A (p.Pro316=)
c.939C>A (p.Pro313=)
 dbSNP
3g.123325374G>ACA354218449ADCY5c.713C>T (p.Pro238Leu)
c.1001C>T (p.Pro334Leu)
c.2036C>T (p.Pro679Leu)
n.295C>T
c.986C>T (p.Pro329Leu)
c.935C>T (p.Pro312Leu)
c.1037C>T (p.Pro346Leu)
c.947C>T (p.Pro316Leu)
c.938C>T (p.Pro313Leu)
 dbSNP COSMIC
3g.123325374G>CCA354218447ADCY5c.713C>G (p.Pro238Arg)
c.1001C>G (p.Pro334Arg)
c.2036C>G (p.Pro679Arg)
n.295C>G
c.986C>G (p.Pro329Arg)
c.935C>G (p.Pro312Arg)
c.1037C>G (p.Pro346Arg)
c.947C>G (p.Pro316Arg)
c.938C>G (p.Pro313Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.123325374G=CA1398346247ADCY5c.713C= (p.Pro238=)
c.1001C= (p.Pro334=)
c.2036C= (p.Pro679=)
n.295C=
c.986C= (p.Pro329=)
c.935C= (p.Pro312=)
c.1037C= (p.Pro346=)
c.947C= (p.Pro316=)
c.938C= (p.Pro313=)
3g.123325374G>TCA354218448ADCY5c.713C>A (p.Pro238His)
c.1001C>A (p.Pro334His)
c.2036C>A (p.Pro679His)
n.295C>A
c.986C>A (p.Pro329His)
c.935C>A (p.Pro312His)
c.1037C>A (p.Pro346His)
c.947C>A (p.Pro316His)
c.938C>A (p.Pro313His)
3g.123325375G>ACA354218450ADCY5c.712C>T (p.Pro238Ser)
c.1000C>T (p.Pro334Ser)
c.2035C>T (p.Pro679Ser)
n.294C>T
c.985C>T (p.Pro329Ser)
c.934C>T (p.Pro312Ser)
c.1036C>T (p.Pro346Ser)
c.946C>T (p.Pro316Ser)
c.937C>T (p.Pro313Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.123325375G>CCA354218451ADCY5c.712C>G (p.Pro238Ala)
c.1000C>G (p.Pro334Ala)
c.2035C>G (p.Pro679Ala)
n.294C>G
c.985C>G (p.Pro329Ala)
c.934C>G (p.Pro312Ala)
c.1036C>G (p.Pro346Ala)
c.946C>G (p.Pro316Ala)
c.937C>G (p.Pro313Ala)
3g.123325375G=CA1398346248ADCY5c.712C= (p.Pro238=)
c.1000C= (p.Pro334=)
c.2035C= (p.Pro679=)
n.294C=
c.985C= (p.Pro329=)
c.934C= (p.Pro312=)
c.1036C= (p.Pro346=)
c.946C= (p.Pro316=)
c.937C= (p.Pro313=)
3g.123325375G>TCA354218452ADCY5c.712C>A (p.Pro238Thr)
c.1000C>A (p.Pro334Thr)
c.2035C>A (p.Pro679Thr)
n.294C>A
c.985C>A (p.Pro329Thr)
c.934C>A (p.Pro312Thr)
c.1036C>A (p.Pro346Thr)
c.946C>A (p.Pro316Thr)
c.937C>A (p.Pro313Thr)
3g.123325376G>ACA2577281ADCY5c.711C>T (p.Arg237=)
c.999C>T (p.Arg333=)
c.2034C>T (p.Arg678=)
n.293C>T
c.984C>T (p.Arg328=)
c.933C>T (p.Arg311=)
c.1035C>T (p.Arg345=)
c.945C>T (p.Arg315=)
c.936C>T (p.Arg312=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325376G>CCA435293352ADCY5c.711C>G (p.Arg237=)
c.999C>G (p.Arg333=)
c.2034C>G (p.Arg678=)
n.293C>G
c.984C>G (p.Arg328=)
c.933C>G (p.Arg311=)
c.1035C>G (p.Arg345=)
c.945C>G (p.Arg315=)
c.936C>G (p.Arg312=)
3g.123325376G=CA1398346249ADCY5c.711C= (p.Arg237=)
c.999C= (p.Arg333=)
c.2034C= (p.Arg678=)
n.293C=
c.984C= (p.Arg328=)
c.933C= (p.Arg311=)
c.1035C= (p.Arg345=)
c.945C= (p.Arg315=)
c.936C= (p.Arg312=)
3g.123325376G>TCA435293353ADCY5c.711C>A (p.Arg237=)
c.999C>A (p.Arg333=)
c.2034C>A (p.Arg678=)
n.293C>A
c.984C>A (p.Arg328=)
c.933C>A (p.Arg311=)
c.1035C>A (p.Arg345=)
c.945C>A (p.Arg315=)
c.936C>A (p.Arg312=)
3g.123325377C>ACA354218453ADCY5c.710G>T (p.Arg237Leu)
c.998G>T (p.Arg333Leu)
c.2033G>T (p.Arg678Leu)
n.292G>T
c.983G>T (p.Arg328Leu)
c.932G>T (p.Arg311Leu)
c.1034G>T (p.Arg345Leu)
c.944G>T (p.Arg315Leu)
c.935G>T (p.Arg312Leu)
 gnomAD v4
3g.123325377C=CA1398346250ADCY5c.710G= (p.Arg237=)
c.998G= (p.Arg333=)
c.2033G= (p.Arg678=)
n.292G=
c.983G= (p.Arg328=)
c.932G= (p.Arg311=)
c.1034G= (p.Arg345=)
c.944G= (p.Arg315=)
c.935G= (p.Arg312=)
3g.123325377C>GCA354218454ADCY5c.710G>C (p.Arg237Pro)
c.998G>C (p.Arg333Pro)
c.2033G>C (p.Arg678Pro)
n.292G>C
c.983G>C (p.Arg328Pro)
c.932G>C (p.Arg311Pro)
c.1034G>C (p.Arg345Pro)
c.944G>C (p.Arg315Pro)
c.935G>C (p.Arg312Pro)
3g.123325377C>TCA2577282ADCY5c.710G>A (p.Arg237His)
c.998G>A (p.Arg333His)
c.2033G>A (p.Arg678His)
n.292G>A
c.983G>A (p.Arg328His)
c.932G>A (p.Arg311His)
c.1034G>A (p.Arg345His)
c.944G>A (p.Arg315His)
c.935G>A (p.Arg312His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325378G>ACA2577283ADCY5c.709C>T (p.Arg237Cys)
c.997C>T (p.Arg333Cys)
c.2032C>T (p.Arg678Cys)
n.291C>T
c.982C>T (p.Arg328Cys)
c.931C>T (p.Arg311Cys)
c.1033C>T (p.Arg345Cys)
c.943C>T (p.Arg315Cys)
c.934C>T (p.Arg312Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325378G>CCA354218455ADCY5c.709C>G (p.Arg237Gly)
c.997C>G (p.Arg333Gly)
c.2032C>G (p.Arg678Gly)
n.291C>G
c.982C>G (p.Arg328Gly)
c.931C>G (p.Arg311Gly)
c.1033C>G (p.Arg345Gly)
c.943C>G (p.Arg315Gly)
c.934C>G (p.Arg312Gly)
3g.123325378G=CA1398346251ADCY5c.709C= (p.Arg237=)
c.997C= (p.Arg333=)
c.2032C= (p.Arg678=)
n.291C=
c.982C= (p.Arg328=)
c.931C= (p.Arg311=)
c.1033C= (p.Arg345=)
c.943C= (p.Arg315=)
c.934C= (p.Arg312=)
3g.123325378G>TCA354218456ADCY5c.709C>A (p.Arg237Ser)
c.997C>A (p.Arg333Ser)
c.2032C>A (p.Arg678Ser)
n.291C>A
c.982C>A (p.Arg328Ser)
c.931C>A (p.Arg311Ser)
c.1033C>A (p.Arg345Ser)
c.943C>A (p.Arg315Ser)
c.934C>A (p.Arg312Ser)
3g.123325379C>ACA354218457ADCY5c.708G>T (p.Glu236Asp)
c.996G>T (p.Glu332Asp)
c.2031G>T (p.Glu677Asp)
n.290G>T
c.981G>T (p.Glu327Asp)
c.930G>T (p.Glu310Asp)
c.1032G>T (p.Glu344Asp)
c.942G>T (p.Glu314Asp)
c.933G>T (p.Glu311Asp)
3g.123325379C=CA1398346252ADCY5c.708G= (p.Glu236=)
c.996G= (p.Glu332=)
c.2031G= (p.Glu677=)
n.290G=
c.981G= (p.Glu327=)
c.930G= (p.Glu310=)
c.1032G= (p.Glu344=)
c.942G= (p.Glu314=)
c.933G= (p.Glu311=)
3g.123325379C>GCA354218458ADCY5c.708G>C (p.Glu236Asp)
c.996G>C (p.Glu332Asp)
c.2031G>C (p.Glu677Asp)
n.290G>C
c.981G>C (p.Glu327Asp)
c.930G>C (p.Glu310Asp)
c.1032G>C (p.Glu344Asp)
c.942G>C (p.Glu314Asp)
c.933G>C (p.Glu311Asp)
3g.123325379C>TCA435293354ADCY5c.708G>A (p.Glu236=)
c.996G>A (p.Glu332=)
c.2031G>A (p.Glu677=)
n.290G>A
c.981G>A (p.Glu327=)
c.930G>A (p.Glu310=)
c.1032G>A (p.Glu344=)
c.942G>A (p.Glu314=)
c.933G>A (p.Glu311=)
 dbSNP gnomAD v2 gnomAD v4
3g.123325380T>ACA354218461ADCY5c.707A>T (p.Glu236Val)
c.995A>T (p.Glu332Val)
c.2030A>T (p.Glu677Val)
n.289A>T
c.980A>T (p.Glu327Val)
c.929A>T (p.Glu310Val)
c.1031A>T (p.Glu344Val)
c.941A>T (p.Glu314Val)
c.932A>T (p.Glu311Val)
3g.123325380T>CCA354218460ADCY5c.707A>G (p.Glu236Gly)
c.995A>G (p.Glu332Gly)
c.2030A>G (p.Glu677Gly)
n.289A>G
c.980A>G (p.Glu327Gly)
c.929A>G (p.Glu310Gly)
c.1031A>G (p.Glu344Gly)
c.941A>G (p.Glu314Gly)
c.932A>G (p.Glu311Gly)
3g.123325380T>GCA354218459ADCY5c.707A>C (p.Glu236Ala)
c.995A>C (p.Glu332Ala)
c.2030A>C (p.Glu677Ala)
n.289A>C
c.980A>C (p.Glu327Ala)
c.929A>C (p.Glu310Ala)
c.1031A>C (p.Glu344Ala)
c.941A>C (p.Glu314Ala)
c.932A>C (p.Glu311Ala)
3g.123325381C>ACA354218462ADCY5c.706G>T (p.Glu236Ter)
c.994G>T (p.Glu332Ter)
c.2029G>T (p.Glu677Ter)
n.288G>T
c.979G>T (p.Glu327Ter)
c.928G>T (p.Glu310Ter)
c.1030G>T (p.Glu344Ter)
c.940G>T (p.Glu314Ter)
c.931G>T (p.Glu311Ter)
 dbSNP
3g.123325381C=CA1398346253ADCY5c.706G= (p.Glu236=)
c.994G= (p.Glu332=)
c.2029G= (p.Glu677=)
n.288G=
c.979G= (p.Glu327=)
c.928G= (p.Glu310=)
c.1030G= (p.Glu344=)
c.940G= (p.Glu314=)
c.931G= (p.Glu311=)
3g.123325381C>GCA354218464ADCY5c.706G>C (p.Glu236Gln)
c.994G>C (p.Glu332Gln)
c.2029G>C (p.Glu677Gln)
n.288G>C
c.979G>C (p.Glu327Gln)
c.928G>C (p.Glu310Gln)
c.1030G>C (p.Glu344Gln)
c.940G>C (p.Glu314Gln)
c.931G>C (p.Glu311Gln)
3g.123325381C>TCA354218463ADCY5c.706G>A (p.Glu236Lys)
c.994G>A (p.Glu332Lys)
c.2029G>A (p.Glu677Lys)
n.288G>A
c.979G>A (p.Glu327Lys)
c.928G>A (p.Glu310Lys)
c.1030G>A (p.Glu344Lys)
c.940G>A (p.Glu314Lys)
c.931G>A (p.Glu311Lys)
 dbSNP
3g.123325382A>CCA435293355ADCY5c.705T>G (p.Ala235=)
c.993T>G (p.Ala331=)
c.2028T>G (p.Ala676=)
n.287T>G
c.978T>G (p.Ala326=)
c.927T>G (p.Ala309=)
c.1029T>G (p.Ala343=)
c.939T>G (p.Ala313=)
c.930T>G (p.Ala310=)
3g.123325382A>GCA435293357ADCY5c.705T>C (p.Ala235=)
c.993T>C (p.Ala331=)
c.2028T>C (p.Ala676=)
n.287T>C
c.978T>C (p.Ala326=)
c.927T>C (p.Ala309=)
c.1029T>C (p.Ala343=)
c.939T>C (p.Ala313=)
c.930T>C (p.Ala310=)
3g.123325382A>TCA435293356ADCY5c.705T>A (p.Ala235=)
c.993T>A (p.Ala331=)
c.2028T>A (p.Ala676=)
n.287T>A
c.978T>A (p.Ala326=)
c.927T>A (p.Ala309=)
c.1029T>A (p.Ala343=)
c.939T>A (p.Ala313=)
c.930T>A (p.Ala310=)
3g.123325383G>ACA354218465ADCY5c.704C>T (p.Ala235Val)
c.992C>T (p.Ala331Val)
c.2027C>T (p.Ala676Val)
n.286C>T
c.977C>T (p.Ala326Val)
c.926C>T (p.Ala309Val)
c.1028C>T (p.Ala343Val)
c.938C>T (p.Ala313Val)
c.929C>T (p.Ala310Val)
 COSMIC
3g.123325383G>CCA354218466ADCY5c.704C>G (p.Ala235Gly)
c.992C>G (p.Ala331Gly)
c.2027C>G (p.Ala676Gly)
n.286C>G
c.977C>G (p.Ala326Gly)
c.926C>G (p.Ala309Gly)
c.1028C>G (p.Ala343Gly)
c.938C>G (p.Ala313Gly)
c.929C>G (p.Ala310Gly)
3g.123325383G>TCA354218467ADCY5c.704C>A (p.Ala235Asp)
c.992C>A (p.Ala331Asp)
c.2027C>A (p.Ala676Asp)
n.286C>A
c.977C>A (p.Ala326Asp)
c.926C>A (p.Ala309Asp)
c.1028C>A (p.Ala343Asp)
c.938C>A (p.Ala313Asp)
c.929C>A (p.Ala310Asp)
3g.123325383_123325384delinsGCCA1398346254ADCY5c.703_704delinsGC (p.Ala235=)
c.991_992delinsGC (p.Ala331=)
c.2026_2027delinsGC (p.Ala676=)
n.285_286delinsGC
c.976_977delinsGC (p.Ala326=)
c.925_926delinsGC (p.Ala309=)
c.1027_1028delinsGC (p.Ala343=)
c.937_938delinsGC (p.Ala313=)
c.928_929delinsGC (p.Ala310=)
3g.123325384C>ACA354218468ADCY5c.703G>T (p.Ala235Ser)
c.991G>T (p.Ala331Ser)
c.2026G>T (p.Ala676Ser)
n.285G>T
c.976G>T (p.Ala326Ser)
c.925G>T (p.Ala309Ser)
c.1027G>T (p.Ala343Ser)
c.937G>T (p.Ala313Ser)
c.928G>T (p.Ala310Ser)
 gnomAD v4 COSMIC
3g.123325384C=CA1398346255ADCY5c.703G= (p.Ala235=)
c.991G= (p.Ala331=)
c.2026G= (p.Ala676=)
n.285G=
c.976G= (p.Ala326=)
c.925G= (p.Ala309=)
c.1027G= (p.Ala343=)
c.937G= (p.Ala313=)
c.928G= (p.Ala310=)
3g.123325384C>GCA354218469ADCY5c.703G>C (p.Ala235Pro)
c.991G>C (p.Ala331Pro)
c.2026G>C (p.Ala676Pro)
n.285G>C
c.976G>C (p.Ala326Pro)
c.925G>C (p.Ala309Pro)
c.1027G>C (p.Ala343Pro)
c.937G>C (p.Ala313Pro)
c.928G>C (p.Ala310Pro)
 gnomAD v4
3g.123325384C>TCA354218470ADCY5c.703G>A (p.Ala235Thr)
c.991G>A (p.Ala331Thr)
c.2026G>A (p.Ala676Thr)
n.285G>A
c.976G>A (p.Ala326Thr)
c.925G>A (p.Ala309Thr)
c.1027G>A (p.Ala343Thr)
c.937G>A (p.Ala313Thr)
c.928G>A (p.Ala310Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.123325389dupCA16617820ADCY5c.703dup (p.Ala235GlyfsTer2)
c.991dup (p.Ala331GlyfsTer2)
c.2026dup (p.Ala676GlyfsTer2)
n.285dup
c.976dup (p.Ala326GlyfsTer2)
c.925dup (p.Ala309GlyfsTer2)
c.1027dup (p.Ala343GlyfsTer2)
c.937dup (p.Ala313GlyfsTer2)
c.928dup (p.Ala310GlyfsTer2)
 ClinVar dbSNP
3g.123325389delCA545686503ADCY5c.703del (p.Ala235LeufsTer18)
c.991del (p.Ala331LeufsTer18)
c.2026del (p.Ala676LeufsTer18)
n.285del
c.976del (p.Ala326LeufsTer18)
c.925del (p.Ala309LeufsTer18)
c.1027del (p.Ala343LeufsTer18)
c.937del (p.Ala313LeufsTer18)
c.928del (p.Ala310LeufsTer18)
 dbSNP gnomAD v2 gnomAD v4
3g.123325385C>ACA435293358ADCY5c.702G>T (p.Gly234=)
c.990G>T (p.Gly330=)
c.2025G>T (p.Gly675=)
n.284G>T
c.975G>T (p.Gly325=)
c.924G>T (p.Gly308=)
c.1026G>T (p.Gly342=)
c.936G>T (p.Gly312=)
c.927G>T (p.Gly309=)
 gnomAD v4
3g.123325385C=CA1398346256ADCY5c.702G= (p.Gly234=)
c.990G= (p.Gly330=)
c.2025G= (p.Gly675=)
n.284G=
c.975G= (p.Gly325=)
c.924G= (p.Gly308=)
c.1026G= (p.Gly342=)
c.936G= (p.Gly312=)
c.927G= (p.Gly309=)
3g.123325385C>GCA435293359ADCY5c.702G>C (p.Gly234=)
c.990G>C (p.Gly330=)
c.2025G>C (p.Gly675=)
n.284G>C
c.975G>C (p.Gly325=)
c.924G>C (p.Gly308=)
c.1026G>C (p.Gly342=)
c.936G>C (p.Gly312=)
c.927G>C (p.Gly309=)
 dbSNP gnomAD v4
3g.123325385C>TCA435293360ADCY5c.702G>A (p.Gly234=)
c.990G>A (p.Gly330=)
c.2025G>A (p.Gly675=)
n.284G>A
c.975G>A (p.Gly325=)
c.924G>A (p.Gly308=)
c.1026G>A (p.Gly342=)
c.936G>A (p.Gly312=)
c.927G>A (p.Gly309=)
 gnomAD v4
3g.123325386C>ACA354218473ADCY5c.701G>T (p.Gly234Val)
c.989G>T (p.Gly330Val)
c.2024G>T (p.Gly675Val)
n.283G>T
c.974G>T (p.Gly325Val)
c.923G>T (p.Gly308Val)
c.1025G>T (p.Gly342Val)
c.935G>T (p.Gly312Val)
c.926G>T (p.Gly309Val)
 dbSNP gnomAD v3 gnomAD v4
3g.123325386C=CA1398346257ADCY5c.701G= (p.Gly234=)
c.989G= (p.Gly330=)
c.2024G= (p.Gly675=)
n.283G=
c.974G= (p.Gly325=)
c.923G= (p.Gly308=)
c.1025G= (p.Gly342=)
c.935G= (p.Gly312=)
c.926G= (p.Gly309=)
3g.123325386C>GCA354218472ADCY5c.701G>C (p.Gly234Ala)
c.989G>C (p.Gly330Ala)
c.2024G>C (p.Gly675Ala)
n.283G>C
c.974G>C (p.Gly325Ala)
c.923G>C (p.Gly308Ala)
c.1025G>C (p.Gly342Ala)
c.935G>C (p.Gly312Ala)
c.926G>C (p.Gly309Ala)
3g.123325386C>TCA354218471ADCY5c.701G>A (p.Gly234Glu)
c.989G>A (p.Gly330Glu)
c.2024G>A (p.Gly675Glu)
n.283G>A
c.974G>A (p.Gly325Glu)
c.923G>A (p.Gly308Glu)
c.1025G>A (p.Gly342Glu)
c.935G>A (p.Gly312Glu)
c.926G>A (p.Gly309Glu)
3g.123325387C>ACA354218474ADCY5c.700G>T (p.Gly234Trp)
c.988G>T (p.Gly330Trp)
c.2023G>T (p.Gly675Trp)
n.282G>T
c.973G>T (p.Gly325Trp)
c.922G>T (p.Gly308Trp)
c.1024G>T (p.Gly342Trp)
c.934G>T (p.Gly312Trp)
c.925G>T (p.Gly309Trp)
3g.123325387C>GCA354218475ADCY5c.700G>C (p.Gly234Arg)
c.988G>C (p.Gly330Arg)
c.2023G>C (p.Gly675Arg)
n.282G>C
c.973G>C (p.Gly325Arg)
c.922G>C (p.Gly308Arg)
c.1024G>C (p.Gly342Arg)
c.934G>C (p.Gly312Arg)
c.925G>C (p.Gly309Arg)
3g.123325387C>TCA354218476ADCY5c.700G>A (p.Gly234Arg)
c.988G>A (p.Gly330Arg)
c.2023G>A (p.Gly675Arg)
n.282G>A
c.973G>A (p.Gly325Arg)
c.922G>A (p.Gly308Arg)
c.1024G>A (p.Gly342Arg)
c.934G>A (p.Gly312Arg)
c.925G>A (p.Gly309Arg)
3g.123325388C>ACA354218477ADCY5c.699G>T (p.Trp233Cys)
c.987G>T (p.Trp329Cys)
c.2022G>T (p.Trp674Cys)
n.281G>T
c.972G>T (p.Trp324Cys)
c.921G>T (p.Trp307Cys)
c.1023G>T (p.Trp341Cys)
c.933G>T (p.Trp311Cys)
c.924G>T (p.Trp308Cys)
3g.123325388C=CA1398346258ADCY5c.699G= (p.Trp233=)
c.987G= (p.Trp329=)
c.2022G= (p.Trp674=)
n.281G=
c.972G= (p.Trp324=)
c.921G= (p.Trp307=)
c.1023G= (p.Trp341=)
c.933G= (p.Trp311=)
c.924G= (p.Trp308=)
3g.123325388C>GCA354218478ADCY5c.699G>C (p.Trp233Cys)
c.987G>C (p.Trp329Cys)
c.2022G>C (p.Trp674Cys)
n.281G>C
c.972G>C (p.Trp324Cys)
c.921G>C (p.Trp307Cys)
c.1023G>C (p.Trp341Cys)
c.933G>C (p.Trp311Cys)
c.924G>C (p.Trp308Cys)
3g.123325388C>TCA354218479ADCY5c.699G>A (p.Trp233Ter)
c.987G>A (p.Trp329Ter)
c.2022G>A (p.Trp674Ter)
n.281G>A
c.972G>A (p.Trp324Ter)
c.921G>A (p.Trp307Ter)
c.1023G>A (p.Trp341Ter)
c.933G>A (p.Trp311Ter)
c.924G>A (p.Trp308Ter)
 dbSNP

Number of alleles fetched