Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.123325271G>A | CA2577264 | ADCY5 | c.765+51C>T (n.765+51C>T) c.1053+51C>T (n.1053+51C>T) c.2088+51C>T (n.2088+51C>T) n.347+51C>T c.1038+51C>T (n.1038+51C>T) c.987+51C>T (n.987+51C>T) c.1089+51C>T (n.1089+51C>T) c.999+51C>T (n.999+51C>T) c.990+51C>T (n.990+51C>T) | dbSNP ExAC gnomAD v2 |
3 | g.123325271G= | CA1398346194 | ADCY5 | c.765+51C= (n.765+51C=) c.1053+51C= (n.1053+51C=) c.2088+51C= (n.2088+51C=) n.347+51C= c.1038+51C= (n.1038+51C=) c.987+51C= (n.987+51C=) c.1089+51C= (n.1089+51C=) c.999+51C= (n.999+51C=) c.990+51C= (n.990+51C=) | |
3 | g.123325271G>T | CA2577875164 | ADCY5 | c.765+51C>A (n.765+51C>A) c.1053+51C>A (n.1053+51C>A) c.2088+51C>A (n.2088+51C>A) n.347+51C>A c.1038+51C>A (n.1038+51C>A) c.987+51C>A (n.987+51C>A) c.1089+51C>A (n.1089+51C>A) c.999+51C>A (n.999+51C>A) c.990+51C>A (n.990+51C>A) | |
3 | g.123325272G>A | CA2667293666 | ADCY5 | c.765+50C>T (n.765+50C>T) c.1053+50C>T (n.1053+50C>T) c.2088+50C>T (n.2088+50C>T) n.347+50C>T c.1038+50C>T (n.1038+50C>T) c.987+50C>T (n.987+50C>T) c.1089+50C>T (n.1089+50C>T) c.999+50C>T (n.999+50C>T) c.990+50C>T (n.990+50C>T) | gnomAD v4 |
3 | g.123325272G>T | CA2667293667 | ADCY5 | c.765+50C>A (n.765+50C>A) c.1053+50C>A (n.1053+50C>A) c.2088+50C>A (n.2088+50C>A) n.347+50C>A c.1038+50C>A (n.1038+50C>A) c.987+50C>A (n.987+50C>A) c.1089+50C>A (n.1089+50C>A) c.999+50C>A (n.999+50C>A) c.990+50C>A (n.990+50C>A) | gnomAD v4 |
3 | g.123325273C= | CA1398346195 | ADCY5 | c.765+49G= (n.765+49G=) c.1053+49G= (n.1053+49G=) c.2088+49G= (n.2088+49G=) n.347+49G= c.1038+49G= (n.1038+49G=) c.987+49G= (n.987+49G=) c.1089+49G= (n.1089+49G=) c.999+49G= (n.999+49G=) c.990+49G= (n.990+49G=) | |
3 | g.123325273C>T | CA1398346196 | ADCY5 | c.765+49G>A (n.765+49G>A) c.1053+49G>A (n.1053+49G>A) c.2088+49G>A (n.2088+49G>A) n.347+49G>A c.1038+49G>A (n.1038+49G>A) c.987+49G>A (n.987+49G>A) c.1089+49G>A (n.1089+49G>A) c.999+49G>A (n.999+49G>A) c.990+49G>A (n.990+49G>A) | dbSNP |
3 | g.123325274C= | CA1398346197 | ADCY5 | c.765+48G= (n.765+48G=) c.1053+48G= (n.1053+48G=) c.2088+48G= (n.2088+48G=) n.347+48G= c.1038+48G= (n.1038+48G=) c.987+48G= (n.987+48G=) c.1089+48G= (n.1089+48G=) c.999+48G= (n.999+48G=) c.990+48G= (n.990+48G=) | |
3 | g.123325274C>T | CA1053005986 | ADCY5 | c.765+48G>A (n.765+48G>A) c.1053+48G>A (n.1053+48G>A) c.2088+48G>A (n.2088+48G>A) n.347+48G>A c.1038+48G>A (n.1038+48G>A) c.987+48G>A (n.987+48G>A) c.1089+48G>A (n.1089+48G>A) c.999+48G>A (n.999+48G>A) c.990+48G>A (n.990+48G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123325275C>G | CA2667293668 | ADCY5 | c.765+47G>C (n.765+47G>C) c.1053+47G>C (n.1053+47G>C) c.2088+47G>C (n.2088+47G>C) n.347+47G>C c.1038+47G>C (n.1038+47G>C) c.987+47G>C (n.987+47G>C) c.1089+47G>C (n.1089+47G>C) c.999+47G>C (n.999+47G>C) c.990+47G>C (n.990+47G>C) | gnomAD v4 |
3 | g.123325275C>T | CA2667293669 | ADCY5 | c.765+47G>A (n.765+47G>A) c.1053+47G>A (n.1053+47G>A) c.2088+47G>A (n.2088+47G>A) n.347+47G>A c.1038+47G>A (n.1038+47G>A) c.987+47G>A (n.987+47G>A) c.1089+47G>A (n.1089+47G>A) c.999+47G>A (n.999+47G>A) c.990+47G>A (n.990+47G>A) | gnomAD v4 |
3 | g.123325279C= | CA1398346198 | ADCY5 | c.765+43G= (n.765+43G=) c.1053+43G= (n.1053+43G=) c.2088+43G= (n.2088+43G=) n.347+43G= c.1038+43G= (n.1038+43G=) c.987+43G= (n.987+43G=) c.1089+43G= (n.1089+43G=) c.999+43G= (n.999+43G=) c.990+43G= (n.990+43G=) | |
3 | g.123325279C>T | CA2577265 | ADCY5 | c.765+43G>A (n.765+43G>A) c.1053+43G>A (n.1053+43G>A) c.2088+43G>A (n.2088+43G>A) n.347+43G>A c.1038+43G>A (n.1038+43G>A) c.987+43G>A (n.987+43G>A) c.1089+43G>A (n.1089+43G>A) c.999+43G>A (n.999+43G>A) c.990+43G>A (n.990+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123325280C= | CA1398346199 | ADCY5 | c.765+42G= (n.765+42G=) c.1053+42G= (n.1053+42G=) c.2088+42G= (n.2088+42G=) n.347+42G= c.1038+42G= (n.1038+42G=) c.987+42G= (n.987+42G=) c.1089+42G= (n.1089+42G=) c.999+42G= (n.999+42G=) c.990+42G= (n.990+42G=) | |
3 | g.123325280C>T | CA2577266 | ADCY5 | c.765+42G>A (n.765+42G>A) c.1053+42G>A (n.1053+42G>A) c.2088+42G>A (n.2088+42G>A) n.347+42G>A c.1038+42G>A (n.1038+42G>A) c.987+42G>A (n.987+42G>A) c.1089+42G>A (n.1089+42G>A) c.999+42G>A (n.999+42G>A) c.990+42G>A (n.990+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123325282T>A | CA2667293670 | ADCY5 | c.765+40A>T (n.765+40A>T) c.1053+40A>T (n.1053+40A>T) c.2088+40A>T (n.2088+40A>T) n.347+40A>T c.1038+40A>T (n.1038+40A>T) c.987+40A>T (n.987+40A>T) c.1089+40A>T (n.1089+40A>T) c.999+40A>T (n.999+40A>T) c.990+40A>T (n.990+40A>T) | gnomAD v4 |
3 | g.123325283G>C | CA2667293671 | ADCY5 | c.765+39C>G (n.765+39C>G) c.1053+39C>G (n.1053+39C>G) c.2088+39C>G (n.2088+39C>G) n.347+39C>G c.1038+39C>G (n.1038+39C>G) c.987+39C>G (n.987+39C>G) c.1089+39C>G (n.1089+39C>G) c.999+39C>G (n.999+39C>G) c.990+39C>G (n.990+39C>G) | gnomAD v4 |
3 | g.123325283G>T | CA2577875165 | ADCY5 | c.765+39C>A (n.765+39C>A) c.1053+39C>A (n.1053+39C>A) c.2088+39C>A (n.2088+39C>A) n.347+39C>A c.1038+39C>A (n.1038+39C>A) c.987+39C>A (n.987+39C>A) c.1089+39C>A (n.1089+39C>A) c.999+39C>A (n.999+39C>A) c.990+39C>A (n.990+39C>A) | |
3 | g.123325284G>A | CA1398346201 | ADCY5 | c.765+38C>T (n.765+38C>T) c.1053+38C>T (n.1053+38C>T) c.2088+38C>T (n.2088+38C>T) n.347+38C>T c.1038+38C>T (n.1038+38C>T) c.987+38C>T (n.987+38C>T) c.1089+38C>T (n.1089+38C>T) c.999+38C>T (n.999+38C>T) c.990+38C>T (n.990+38C>T) | dbSNP |
3 | g.123325284G>C | CA1053005990 | ADCY5 | c.765+38C>G (n.765+38C>G) c.1053+38C>G (n.1053+38C>G) c.2088+38C>G (n.2088+38C>G) n.347+38C>G c.1038+38C>G (n.1038+38C>G) c.987+38C>G (n.987+38C>G) c.1089+38C>G (n.1089+38C>G) c.999+38C>G (n.999+38C>G) c.990+38C>G (n.990+38C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123325284G= | CA1398346200 | ADCY5 | c.765+38C= (n.765+38C=) c.1053+38C= (n.1053+38C=) c.2088+38C= (n.2088+38C=) n.347+38C= c.1038+38C= (n.1038+38C=) c.987+38C= (n.987+38C=) c.1089+38C= (n.1089+38C=) c.999+38C= (n.999+38C=) c.990+38C= (n.990+38C=) | |
3 | g.123325285A= | CA1398346202 | ADCY5 | c.765+37T= (n.765+37T=) c.1053+37T= (n.1053+37T=) c.2088+37T= (n.2088+37T=) n.347+37T= c.1038+37T= (n.1038+37T=) c.987+37T= (n.987+37T=) c.1089+37T= (n.1089+37T=) c.999+37T= (n.999+37T=) c.990+37T= (n.990+37T=) | |
3 | g.123325285A>C | CA545686443 | ADCY5 | c.765+37T>G (n.765+37T>G) c.1053+37T>G (n.1053+37T>G) c.2088+37T>G (n.2088+37T>G) n.347+37T>G c.1038+37T>G (n.1038+37T>G) c.987+37T>G (n.987+37T>G) c.1089+37T>G (n.1089+37T>G) c.999+37T>G (n.999+37T>G) c.990+37T>G (n.990+37T>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123325286G>A | CA2577267 | ADCY5 | c.765+36C>T (n.765+36C>T) c.1053+36C>T (n.1053+36C>T) c.2088+36C>T (n.2088+36C>T) n.347+36C>T c.1038+36C>T (n.1038+36C>T) c.987+36C>T (n.987+36C>T) c.1089+36C>T (n.1089+36C>T) c.999+36C>T (n.999+36C>T) c.990+36C>T (n.990+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123325286G>C | CA545686445 | ADCY5 | c.765+36C>G (n.765+36C>G) c.1053+36C>G (n.1053+36C>G) c.2088+36C>G (n.2088+36C>G) n.347+36C>G c.1038+36C>G (n.1038+36C>G) c.987+36C>G (n.987+36C>G) c.1089+36C>G (n.1089+36C>G) c.999+36C>G (n.999+36C>G) c.990+36C>G (n.990+36C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123325286G= | CA1398346203 | ADCY5 | c.765+36C= (n.765+36C=) c.1053+36C= (n.1053+36C=) c.2088+36C= (n.2088+36C=) n.347+36C= c.1038+36C= (n.1038+36C=) c.987+36C= (n.987+36C=) c.1089+36C= (n.1089+36C=) c.999+36C= (n.999+36C=) c.990+36C= (n.990+36C=) | |
3 | g.123325286G>T | CA545686444 | ADCY5 | c.765+36C>A (n.765+36C>A) c.1053+36C>A (n.1053+36C>A) c.2088+36C>A (n.2088+36C>A) n.347+36C>A c.1038+36C>A (n.1038+36C>A) c.987+36C>A (n.987+36C>A) c.1089+36C>A (n.1089+36C>A) c.999+36C>A (n.999+36C>A) c.990+36C>A (n.990+36C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123325287A>G | CA2667293672 | ADCY5 | c.765+35T>C (n.765+35T>C) c.1053+35T>C (n.1053+35T>C) c.2088+35T>C (n.2088+35T>C) n.347+35T>C c.1038+35T>C (n.1038+35T>C) c.987+35T>C (n.987+35T>C) c.1089+35T>C (n.1089+35T>C) c.999+35T>C (n.999+35T>C) c.990+35T>C (n.990+35T>C) | gnomAD v4 |
3 | g.123325288G>A | CA82899228 | ADCY5 | c.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 |
3 | g.123325288G>C | CA1398346205 | ADCY5 | c.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 |
3 | g.123325288G= | CA1398346204 | ADCY5 | c.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=) | |
3 | g.123325289T>A | CA545686447 | ADCY5 | c.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 |
3 | g.123325289T= | CA1398346206 | ADCY5 | c.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=) | |
3 | g.123325291T>A | CA1398346208 | ADCY5 | c.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 |
3 | g.123325291T>C | CA2577268 | ADCY5 | c.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 |
3 | g.123325291T= | CA1398346207 | ADCY5 | c.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=) | |
3 | g.123325293G>A | CA1398346210 | ADCY5 | c.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 |
3 | g.123325293G= | CA1398346209 | ADCY5 | c.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=) | |
3 | g.123325294C>T | CA2667293673 | ADCY5 | c.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 |
3 | g.123325295C= | CA1398346211 | ADCY5 | c.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=) | |
3 | g.123325295C>T | CA2577269 | ADCY5 | c.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 |
3 | g.123325297A>G | CA2667293674 | ADCY5 | c.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 |
3 | g.123325298C>A | CA2667293675 | ADCY5 | c.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 |
3 | g.123325298C= | CA1398346212 | ADCY5 | c.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=) | |
3 | g.123325298C>T | CA2577270 | ADCY5 | c.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 |
3 | g.123325299A= | CA1398346213 | ADCY5 | c.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=) | |
3 | g.123325299A>G | CA545686449 | ADCY5 | c.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 |
3 | g.123325300G>C | CA2667293676 | ADCY5 | c.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 |
3 | g.123325301G>T | CA2577875166 | ADCY5 | c.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 |
3 | g.123325302C>T | CA2758206419 | ADCY5 | c.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) | |
3 | g.123325304G>A | CA2667293677 | ADCY5 | c.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 |
3 | g.123325304G= | CA1398346214 | ADCY5 | c.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=) | |
3 | g.123325304G>T | CA2577271 | ADCY5 | c.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 |
3 | g.123325305C= | CA1398346215 | ADCY5 | c.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=) | |
3 | g.123325305C>G | CA2577272 | ADCY5 | c.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 |
3 | g.123325305C>T | CA2577273 | ADCY5 | c.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 |
3 | g.123325306C= | CA1398346216 | ADCY5 | c.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=) | |
3 | g.123325306C>G | CA1398346217 | ADCY5 | c.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 |
3 | g.123325308C>T | CA2667293678 | ADCY5 | c.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 |
3 | g.123325309A= | CA1398346218 | ADCY5 | c.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=) | |
3 | g.123325309A>C | CA2577274 | ADCY5 | c.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 |
3 | g.123325309A>T | CA2560949639 | ADCY5 | c.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) | |
3 | g.123325311C= | CA1398346219 | ADCY5 | c.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=) | |
3 | g.123325311C>T | CA898166497 | ADCY5 | c.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 |
3 | g.123325312A>G | CA2667293679 | ADCY5 | c.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 |
3 | g.123325313G>A | CA2667293680 | ADCY5 | c.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 |
3 | g.123325315C= | CA1398346221 | ADCY5 | c.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=) | |
3 | g.123325315C>T | CA1398346220 | ADCY5 | c.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 |
3 | g.123325316A>T | CA2667293681 | ADCY5 | c.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 |
3 | g.123325319C>A | CA2667293682 | ADCY5 | c.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 |
3 | g.123325319C= | CA1398346222 | ADCY5 | c.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=) | |
3 | g.123325319C>T | CA545686492 | ADCY5 | c.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 |
3 | g.123325320A>C | CA354218217 | ADCY5 | c.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) | |
3 | g.123325320A>G | CA354218219 | ADCY5 | c.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) | |
3 | g.123325320A>T | CA354218221 | ADCY5 | c.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) | |
3 | g.123325321C>A | CA275966 | ADCY5 | c.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 |
3 | g.123325321C= | CA1398346223 | ADCY5 | c.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=) | |
3 | g.123325321C>G | CA354218224 | ADCY5 | c.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) | |
3 | g.123325321C>T | CA347808 | ADCY5 | c.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 |
3 | g.123325322C>A | CA354218228 | ADCY5 | c.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) | |
3 | g.123325322C>G | CA354218232 | ADCY5 | c.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) | |
3 | g.123325322C>T | CA354218229 | ADCY5 | c.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) | |
3 | g.123325326_123325334del | CA2499216418 | ADCY5 | c.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 |
3 | g.123325323A>C | CA354218234 | ADCY5 | c.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) | |
3 | g.123325323A>G | CA354218236 | ADCY5 | c.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 |
3 | g.123325323A>T | CA354218238 | ADCY5 | c.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) | |
3 | g.123325324T>A | CA354218240 | ADCY5 | c.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) | |
3 | g.123325324T>C | CA354218242 | ADCY5 | c.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) | |
3 | g.123325324T>G | CA354218247 | ADCY5 | c.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) | |
3 | g.123325325C>A | CA435293322 | ADCY5 | c.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 |
3 | g.123325325C>G | CA435293323 | ADCY5 | c.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=) | |
3 | g.123325325C>T | CA435293324 | ADCY5 | c.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=) | |
3 | g.123325327_123325357del | CA2667293683 | ADCY5 | c.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 |
3 | g.123325326C>A | CA354218251 | ADCY5 | c.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) | |
3 | g.123325326C= | CA1398346224 | ADCY5 | c.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=) | |
3 | g.123325326C>G | CA354218253 | ADCY5 | c.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 |
3 | g.123325326C>T | CA2577275 | ADCY5 | c.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 |
3 | g.123325327G>A | CA16604794 | ADCY5 | c.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 |
3 | g.123325327G>C | CA354218256 | ADCY5 | c.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) | |
3 | g.123325327G= | CA1398346225 | ADCY5 | c.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=) | |
3 | g.123325327G>T | CA435293325 | ADCY5 | c.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=) | |
3 | g.123325328C>A | CA354218260 | ADCY5 | c.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) | |
3 | g.123325328C>G | CA354218261 | ADCY5 | c.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) | |
3 | g.123325328C>T | CA435293326 | ADCY5 | c.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 |
3 | g.123325329T>A | CA354218265 | ADCY5 | c.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) | |
3 | g.123325329T>C | CA354218268 | ADCY5 | c.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) | |
3 | g.123325329T>G | CA354218267 | ADCY5 | c.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) | |
3 | g.123325330T>A | CA354218270 | ADCY5 | c.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 |
3 | g.123325330T>C | CA354218273 | ADCY5 | c.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) | |
3 | g.123325330T>G | CA354218271 | ADCY5 | c.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) | |
3 | g.123325330T= | CA1398346226 | ADCY5 | c.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=) | |
3 | g.123325331C>A | CA354218276 | ADCY5 | c.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) | |
3 | g.123325331C>G | CA354218279 | ADCY5 | c.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) | |
3 | g.123325331C>T | CA354218277 | ADCY5 | c.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) | |
3 | g.123325332A>C | CA354218282 | ADCY5 | c.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) | |
3 | g.123325332A>G | CA354218283 | ADCY5 | c.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) | |
3 | g.123325332A>T | CA354218285 | ADCY5 | c.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) | |
3 | g.123325333T>A | CA354218287 | ADCY5 | c.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) | |
3 | g.123325333T>C | CA354218289 | ADCY5 | c.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) | |
3 | g.123325333T>G | CA354218291 | ADCY5 | c.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 |
3 | g.123325333T= | CA1398346227 | ADCY5 | c.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=) | |
3 | g.123325334C>A | CA354218293 | ADCY5 | c.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 |
3 | g.123325334C= | CA1398346228 | ADCY5 | c.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=) | |
3 | g.123325334C>G | CA354218295 | ADCY5 | c.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) | |
3 | g.123325334C>T | CA435293327 | ADCY5 | c.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 |
3 | g.123325335T>A | CA354218297 | ADCY5 | c.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) | |
3 | g.123325335T>C | CA354218299 | ADCY5 | c.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 |
3 | g.123325335T>G | CA354218301 | ADCY5 | c.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) | |
3 | g.123325335T= | CA1398346229 | ADCY5 | c.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=) | |
3 | g.123325336C>A | CA354218307 | ADCY5 | c.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 |
3 | g.123325336C= | CA1398346230 | ADCY5 | c.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=) | |
3 | g.123325336C>G | CA354218303 | ADCY5 | c.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) | |
3 | g.123325336C>T | CA354218305 | ADCY5 | c.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 |
3 | g.123325337C>A | CA354218310 | ADCY5 | c.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 |
3 | g.123325337C= | CA1398346231 | ADCY5 | c.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=) | |
3 | g.123325337C>G | CA354218312 | ADCY5 | c.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) | |
3 | g.123325337C>T | CA435293328 | ADCY5 | c.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 |
3 | g.123325338T>A | CA354218313 | ADCY5 | c.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 |
3 | g.123325338T>C | CA354218315 | ADCY5 | c.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 |
3 | g.123325338T>G | CA354218317 | ADCY5 | c.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) | |
3 | g.123325338T= | CA1398346232 | ADCY5 | c.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=) | |
3 | g.123325339T>A | CA354218319 | ADCY5 | c.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 |
3 | g.123325339T>C | CA354218320 | ADCY5 | c.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 |
3 | g.123325339T>G | CA354218322 | ADCY5 | c.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) | |
3 | g.123325339T= | CA1398346233 | ADCY5 | c.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=) | |
3 | g.123325340G>A | CA435293329 | ADCY5 | c.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 |
3 | g.123325340G>C | CA435293330 | ADCY5 | c.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=) | |
3 | g.123325340G>T | CA435293331 | ADCY5 | c.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=) | |
3 | g.123325341G>A | CA354218324 | ADCY5 | c.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) | |
3 | g.123325341G>C | CA354218326 | ADCY5 | c.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) | |
3 | g.123325341G>T | CA354218328 | ADCY5 | c.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) | |
3 | g.123325342A>C | CA354218333 | ADCY5 | c.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) | |
3 | g.123325342A>G | CA354218331 | ADCY5 | c.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 |
3 | g.123325342A>T | CA354218329 | ADCY5 | c.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) | |
3 | g.123325343C>A | CA435293332 | ADCY5 | c.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=) | |
3 | g.123325343C>G | CA435293333 | ADCY5 | c.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=) | |
3 | g.123325343C>T | CA435293334 | ADCY5 | c.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 |
3 | g.123325344A>C | CA354218340 | ADCY5 | c.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) | |
3 | g.123325344A>G | CA354218335 | ADCY5 | c.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) | |
3 | g.123325344A>T | CA354218338 | ADCY5 | c.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) | |
3 | g.123325345C>A | CA354218341 | ADCY5 | c.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) | |
3 | g.123325345C= | CA1398346234 | ADCY5 | c.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=) | |
3 | g.123325345C>G | CA354218342 | ADCY5 | c.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 |
3 | g.123325345C>T | CA354218344 | ADCY5 | c.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) | |
3 | g.123325346C>A | CA354218347 | ADCY5 | c.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) | |
3 | g.123325346C>G | CA354218348 | ADCY5 | c.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) | |
3 | g.123325346C>T | CA435293335 | ADCY5 | c.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=) | |
3 | g.123325347T>A | CA354218351 | ADCY5 | c.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) | |
3 | g.123325347T>C | CA354218353 | ADCY5 | c.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) | |
3 | g.123325347T>G | CA354218354 | ADCY5 | c.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) | |
3 | g.123325348G>A | CA354218357 | ADCY5 | c.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 |
3 | g.123325348G>C | CA354218359 | ADCY5 | c.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 |
3 | g.123325348G= | CA1398346235 | ADCY5 | c.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=) | |
3 | g.123325348G>T | CA354218360 | ADCY5 | c.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 |
3 | g.123325349G>A | CA2577276 | ADCY5 | c.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 |
3 | g.123325349G>C | CA354218363 | ADCY5 | c.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) | |
3 | g.123325349G= | CA1398346236 | ADCY5 | c.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=) | |
3 | g.123325349G>T | CA354218364 | ADCY5 | c.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) | |
3 | g.123325350T>A | CA354218367 | ADCY5 | c.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) | |
3 | g.123325350T>C | CA354218368 | ADCY5 | c.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 |
3 | g.123325350T>G | CA354218370 | ADCY5 | c.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) | |
3 | g.123325351T>A | CA354218373 | ADCY5 | c.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) | |
3 | g.123325351T>C | CA354218374 | ADCY5 | c.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) | |
3 | g.123325351T>G | CA354218376 | ADCY5 | c.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) | |
3 | g.123325352G>A | CA435293336 | ADCY5 | c.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 |
3 | g.123325352G>C | CA435293337 | ADCY5 | c.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=) | |
3 | g.123325352G>T | CA435293338 | ADCY5 | c.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 |
3 | g.123325353C>A | CA354218379 | ADCY5 | c.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) | |
3 | g.123325353C= | CA1398346237 | ADCY5 | c.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=) | |
3 | g.123325353C>G | CA354218381 | ADCY5 | c.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) | |
3 | g.123325353C>T | CA2577277 | ADCY5 | c.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 |
3 | g.123325354C>A | CA354218383 | ADCY5 | c.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 |
3 | g.123325354C>G | CA354218384 | ADCY5 | c.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) | |
3 | g.123325354C>T | CA354218387 | ADCY5 | c.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) | |
3 | g.123325355A>C | CA435293341 | ADCY5 | c.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=) | |
3 | g.123325355A>G | CA435293340 | ADCY5 | c.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=) | |
3 | g.123325355A>T | CA435293339 | ADCY5 | c.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=) | |
3 | g.123325356C>A | CA354218391 | ADCY5 | c.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 |
3 | g.123325356C= | CA1398346238 | ADCY5 | c.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=) | |
3 | g.123325356C>G | CA354218393 | ADCY5 | c.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) | |
3 | g.123325356C>T | CA354218389 | ADCY5 | c.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 |
3 | g.123325357C>A | CA354218395 | ADCY5 | c.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) | |
3 | g.123325357C>G | CA354218399 | ADCY5 | c.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) | |
3 | g.123325357C>T | CA354218397 | ADCY5 | c.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 |
3 | g.123325358C>A | CA435293342 | ADCY5 | c.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=) | |
3 | g.123325358C= | CA1398346239 | ADCY5 | c.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=) | |
3 | g.123325358C>G | CA435293343 | ADCY5 | c.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=) | |
3 | g.123325358C>T | CA435293344 | ADCY5 | c.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 |
3 | g.123325359A>C | CA354218401 | ADCY5 | c.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) | |
3 | g.123325359A>G | CA354218403 | ADCY5 | c.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) | |
3 | g.123325359A>T | CA354218405 | ADCY5 | c.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) | |
3 | g.123325360G>A | CA435293345 | ADCY5 | c.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 |
3 | g.123325360G>C | CA354218407 | ADCY5 | c.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) | |
3 | g.123325360G>T | CA354218408 | ADCY5 | c.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) | |
3 | g.123325361G>A | CA435293346 | ADCY5 | c.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 |
3 | g.123325361G>C | CA354218410 | ADCY5 | c.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) | |
3 | g.123325361G= | CA1398346240 | ADCY5 | c.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=) | |
3 | g.123325361G>T | CA354218412 | ADCY5 | c.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) | |
3 | g.123325362T>A | CA354218414 | ADCY5 | c.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) | |
3 | g.123325362T>C | CA354218416 | ADCY5 | c.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 |
3 | g.123325362T>G | CA354218418 | ADCY5 | c.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) | |
3 | g.123325362_123325363delinsTG | CA1398346241 | ADCY5 | c.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=) | |
3 | g.123325363G>A | CA354218424 | ADCY5 | c.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 |
3 | g.123325363G>C | CA354218423 | ADCY5 | c.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 |
3 | g.123325363G= | CA1398346242 | ADCY5 | c.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=) | |
3 | g.123325363G>T | CA354218421 | ADCY5 | c.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) | |
3 | g.123325364del | CA2577278 | ADCY5 | c.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 |
3 | g.123325364G>A | CA435293347 | ADCY5 | c.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 |
3 | g.123325364G>C | CA354218425 | ADCY5 | c.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) | |
3 | g.123325364G>T | CA354218426 | ADCY5 | c.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) | |
3 | g.123325365T>A | CA354218427 | ADCY5 | c.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) | |
3 | g.123325365T>C | CA82899283 | ADCY5 | c.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 |
3 | g.123325365T>G | CA354218428 | ADCY5 | c.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) | |
3 | g.123325365T= | CA1398346243 | ADCY5 | c.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=) | |
3 | g.123325366T>A | CA354218429 | ADCY5 | c.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) | |
3 | g.123325366T>C | CA354218430 | ADCY5 | c.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) | |
3 | g.123325366T>G | CA354218431 | ADCY5 | c.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) | |
3 | g.123325367G>A | CA435293348 | ADCY5 | c.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 |
3 | g.123325367G>C | CA354218432 | ADCY5 | c.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) | |
3 | g.123325367G= | CA1398346244 | ADCY5 | c.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=) | |
3 | g.123325367G>T | CA354218433 | ADCY5 | c.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) | |
3 | g.123325368T>A | CA354218435 | ADCY5 | c.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) | |
3 | g.123325368T>C | CA2577279 | ADCY5 | c.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 |
3 | g.123325368T>G | CA354218434 | ADCY5 | c.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) | |
3 | g.123325368T= | CA1398346245 | ADCY5 | c.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=) | |
3 | g.123325369A>C | CA354218436 | ADCY5 | c.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) | |
3 | g.123325369A>G | CA354218437 | ADCY5 | c.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) | |
3 | g.123325369A>T | CA354218438 | ADCY5 | c.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) | |
3 | g.123325370G>A | CA435293349 | ADCY5 | c.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=) | |
3 | g.123325370G>C | CA354218439 | ADCY5 | c.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) | |
3 | g.123325370G>T | CA354218440 | ADCY5 | c.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) |