Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.24823157_24823191delinsTGTGGAATGGGCCGGCTTCATGGCCAGAGTGCAGG | CA1239072239 | ADCY3 | c.2886+18_2886+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2886+18_2886+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2883+18_2883+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2883+18_2883+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) n.155+18_155+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA c.1824+18_1824+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.1824+18_1824+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2952+18_2952+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2952+18_2952+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.3009+18_3009+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.3009+18_3009+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.3006+18_3006+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.3006+18_3006+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2943+18_2943+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2943+18_2943+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2871+18_2871+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2871+18_2871+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2811+18_2811+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2811+18_2811+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2343+18_2343+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2343+18_2343+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2286+18_2286+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2286+18_2286+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2949+18_2949+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2949+18_2949+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2940+18_2940+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2940+18_2940+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2868+18_2868+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2868+18_2868+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2745+18_2745+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2745+18_2745+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2373+18_2373+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2373+18_2373+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2163+18_2163+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2163+18_2163+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2160+18_2160+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2160+18_2160+52delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) c.2332-561_2332-527delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA (n.2332-561_2332-527delinsCCTGCACTCTGGCCATGAAGCCGGCCCATTCCACA) | |
2 | g.24823162_24823195del | CA43680093 | ADCY3 | c.2886+18_2886+51del (n.2886+18_2886+51del) c.2883+18_2883+51del (n.2883+18_2883+51del) n.155+18_155+51del c.1824+18_1824+51del (n.1824+18_1824+51del) c.2952+18_2952+51del (n.2952+18_2952+51del) c.3009+18_3009+51del (n.3009+18_3009+51del) c.3006+18_3006+51del (n.3006+18_3006+51del) c.2943+18_2943+51del (n.2943+18_2943+51del) c.2871+18_2871+51del (n.2871+18_2871+51del) c.2811+18_2811+51del (n.2811+18_2811+51del) c.2343+18_2343+51del (n.2343+18_2343+51del) c.2286+18_2286+51del (n.2286+18_2286+51del) c.2949+18_2949+51del (n.2949+18_2949+51del) c.2940+18_2940+51del (n.2940+18_2940+51del) c.2868+18_2868+51del (n.2868+18_2868+51del) c.2745+18_2745+51del (n.2745+18_2745+51del) c.2373+18_2373+51del (n.2373+18_2373+51del) c.2163+18_2163+51del (n.2163+18_2163+51del) c.2160+18_2160+51del (n.2160+18_2160+51del) c.2332-561_2332-528del (n.2332-561_2332-528del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823172C>A | CA2658139521 | ADCY3 | c.2886+37G>T (n.2886+37G>T) c.2883+37G>T (n.2883+37G>T) n.155+37G>T c.1824+37G>T (n.1824+37G>T) c.2952+37G>T (n.2952+37G>T) c.3009+37G>T (n.3009+37G>T) c.3006+37G>T (n.3006+37G>T) c.2943+37G>T (n.2943+37G>T) c.2871+37G>T (n.2871+37G>T) c.2811+37G>T (n.2811+37G>T) c.2343+37G>T (n.2343+37G>T) c.2286+37G>T (n.2286+37G>T) c.2949+37G>T (n.2949+37G>T) c.2940+37G>T (n.2940+37G>T) c.2868+37G>T (n.2868+37G>T) c.2745+37G>T (n.2745+37G>T) c.2373+37G>T (n.2373+37G>T) c.2163+37G>T (n.2163+37G>T) c.2160+37G>T (n.2160+37G>T) c.2332-542G>T (n.2332-542G>T) | gnomAD v4 |
2 | g.24823172C>G | CA2576692125 | ADCY3 | c.2886+37G>C (n.2886+37G>C) c.2883+37G>C (n.2883+37G>C) n.155+37G>C c.1824+37G>C (n.1824+37G>C) c.2952+37G>C (n.2952+37G>C) c.3009+37G>C (n.3009+37G>C) c.3006+37G>C (n.3006+37G>C) c.2943+37G>C (n.2943+37G>C) c.2871+37G>C (n.2871+37G>C) c.2811+37G>C (n.2811+37G>C) c.2343+37G>C (n.2343+37G>C) c.2286+37G>C (n.2286+37G>C) c.2949+37G>C (n.2949+37G>C) c.2940+37G>C (n.2940+37G>C) c.2868+37G>C (n.2868+37G>C) c.2745+37G>C (n.2745+37G>C) c.2373+37G>C (n.2373+37G>C) c.2163+37G>C (n.2163+37G>C) c.2160+37G>C (n.2160+37G>C) c.2332-542G>C (n.2332-542G>C) | |
2 | g.24823173T>C | CA2658139523 | ADCY3 | c.2886+36A>G (n.2886+36A>G) c.2883+36A>G (n.2883+36A>G) n.155+36A>G c.1824+36A>G (n.1824+36A>G) c.2952+36A>G (n.2952+36A>G) c.3009+36A>G (n.3009+36A>G) c.3006+36A>G (n.3006+36A>G) c.2943+36A>G (n.2943+36A>G) c.2871+36A>G (n.2871+36A>G) c.2811+36A>G (n.2811+36A>G) c.2343+36A>G (n.2343+36A>G) c.2286+36A>G (n.2286+36A>G) c.2949+36A>G (n.2949+36A>G) c.2940+36A>G (n.2940+36A>G) c.2868+36A>G (n.2868+36A>G) c.2745+36A>G (n.2745+36A>G) c.2373+36A>G (n.2373+36A>G) c.2163+36A>G (n.2163+36A>G) c.2160+36A>G (n.2160+36A>G) c.2332-543A>G (n.2332-543A>G) | gnomAD v4 |
2 | g.24823175C= | CA1239072246 | ADCY3 | c.2886+34G= (n.2886+34G=) c.2883+34G= (n.2883+34G=) n.155+34G= c.1824+34G= (n.1824+34G=) c.2952+34G= (n.2952+34G=) c.3009+34G= (n.3009+34G=) c.3006+34G= (n.3006+34G=) c.2943+34G= (n.2943+34G=) c.2871+34G= (n.2871+34G=) c.2811+34G= (n.2811+34G=) c.2343+34G= (n.2343+34G=) c.2286+34G= (n.2286+34G=) c.2949+34G= (n.2949+34G=) c.2940+34G= (n.2940+34G=) c.2868+34G= (n.2868+34G=) c.2745+34G= (n.2745+34G=) c.2373+34G= (n.2373+34G=) c.2163+34G= (n.2163+34G=) c.2160+34G= (n.2160+34G=) c.2332-545G= (n.2332-545G=) | |
2 | g.24823175C>T | CA1028473407 | ADCY3 | c.2886+34G>A (n.2886+34G>A) c.2883+34G>A (n.2883+34G>A) n.155+34G>A c.1824+34G>A (n.1824+34G>A) c.2952+34G>A (n.2952+34G>A) c.3009+34G>A (n.3009+34G>A) c.3006+34G>A (n.3006+34G>A) c.2943+34G>A (n.2943+34G>A) c.2871+34G>A (n.2871+34G>A) c.2811+34G>A (n.2811+34G>A) c.2343+34G>A (n.2343+34G>A) c.2286+34G>A (n.2286+34G>A) c.2949+34G>A (n.2949+34G>A) c.2940+34G>A (n.2940+34G>A) c.2868+34G>A (n.2868+34G>A) c.2745+34G>A (n.2745+34G>A) c.2373+34G>A (n.2373+34G>A) c.2163+34G>A (n.2163+34G>A) c.2160+34G>A (n.2160+34G>A) c.2332-545G>A (n.2332-545G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823176A>G | CA2658139525 | ADCY3 | c.2886+33T>C (n.2886+33T>C) c.2883+33T>C (n.2883+33T>C) n.155+33T>C c.1824+33T>C (n.1824+33T>C) c.2952+33T>C (n.2952+33T>C) c.3009+33T>C (n.3009+33T>C) c.3006+33T>C (n.3006+33T>C) c.2943+33T>C (n.2943+33T>C) c.2871+33T>C (n.2871+33T>C) c.2811+33T>C (n.2811+33T>C) c.2343+33T>C (n.2343+33T>C) c.2286+33T>C (n.2286+33T>C) c.2949+33T>C (n.2949+33T>C) c.2940+33T>C (n.2940+33T>C) c.2868+33T>C (n.2868+33T>C) c.2745+33T>C (n.2745+33T>C) c.2373+33T>C (n.2373+33T>C) c.2163+33T>C (n.2163+33T>C) c.2160+33T>C (n.2160+33T>C) c.2332-546T>C (n.2332-546T>C) | gnomAD v4 |
2 | g.24823176A>T | CA2658139526 | ADCY3 | c.2886+33T>A (n.2886+33T>A) c.2883+33T>A (n.2883+33T>A) n.155+33T>A c.1824+33T>A (n.1824+33T>A) c.2952+33T>A (n.2952+33T>A) c.3009+33T>A (n.3009+33T>A) c.3006+33T>A (n.3006+33T>A) c.2943+33T>A (n.2943+33T>A) c.2871+33T>A (n.2871+33T>A) c.2811+33T>A (n.2811+33T>A) c.2343+33T>A (n.2343+33T>A) c.2286+33T>A (n.2286+33T>A) c.2949+33T>A (n.2949+33T>A) c.2940+33T>A (n.2940+33T>A) c.2868+33T>A (n.2868+33T>A) c.2745+33T>A (n.2745+33T>A) c.2373+33T>A (n.2373+33T>A) c.2163+33T>A (n.2163+33T>A) c.2160+33T>A (n.2160+33T>A) c.2332-546T>A (n.2332-546T>A) | gnomAD v4 |
2 | g.24823177T>C | CA2576692126 | ADCY3 | c.2886+32A>G (n.2886+32A>G) c.2883+32A>G (n.2883+32A>G) n.155+32A>G c.1824+32A>G (n.1824+32A>G) c.2952+32A>G (n.2952+32A>G) c.3009+32A>G (n.3009+32A>G) c.3006+32A>G (n.3006+32A>G) c.2943+32A>G (n.2943+32A>G) c.2871+32A>G (n.2871+32A>G) c.2811+32A>G (n.2811+32A>G) c.2343+32A>G (n.2343+32A>G) c.2286+32A>G (n.2286+32A>G) c.2949+32A>G (n.2949+32A>G) c.2940+32A>G (n.2940+32A>G) c.2868+32A>G (n.2868+32A>G) c.2745+32A>G (n.2745+32A>G) c.2373+32A>G (n.2373+32A>G) c.2163+32A>G (n.2163+32A>G) c.2160+32A>G (n.2160+32A>G) c.2332-547A>G (n.2332-547A>G) | |
2 | g.24823180C>T | CA2658139527 | ADCY3 | c.2886+29G>A (n.2886+29G>A) c.2883+29G>A (n.2883+29G>A) n.155+29G>A c.1824+29G>A (n.1824+29G>A) c.2952+29G>A (n.2952+29G>A) c.3009+29G>A (n.3009+29G>A) c.3006+29G>A (n.3006+29G>A) c.2943+29G>A (n.2943+29G>A) c.2871+29G>A (n.2871+29G>A) c.2811+29G>A (n.2811+29G>A) c.2343+29G>A (n.2343+29G>A) c.2286+29G>A (n.2286+29G>A) c.2949+29G>A (n.2949+29G>A) c.2940+29G>A (n.2940+29G>A) c.2868+29G>A (n.2868+29G>A) c.2745+29G>A (n.2745+29G>A) c.2373+29G>A (n.2373+29G>A) c.2163+29G>A (n.2163+29G>A) c.2160+29G>A (n.2160+29G>A) c.2332-550G>A (n.2332-550G>A) | gnomAD v4 |
2 | g.24823183G>A | CA531356158 | ADCY3 | c.2886+26C>T (n.2886+26C>T) c.2883+26C>T (n.2883+26C>T) n.155+26C>T c.1824+26C>T (n.1824+26C>T) c.2952+26C>T (n.2952+26C>T) c.3009+26C>T (n.3009+26C>T) c.3006+26C>T (n.3006+26C>T) c.2943+26C>T (n.2943+26C>T) c.2871+26C>T (n.2871+26C>T) c.2811+26C>T (n.2811+26C>T) c.2343+26C>T (n.2343+26C>T) c.2286+26C>T (n.2286+26C>T) c.2949+26C>T (n.2949+26C>T) c.2940+26C>T (n.2940+26C>T) c.2868+26C>T (n.2868+26C>T) c.2745+26C>T (n.2745+26C>T) c.2373+26C>T (n.2373+26C>T) c.2163+26C>T (n.2163+26C>T) c.2160+26C>T (n.2160+26C>T) c.2332-553C>T (n.2332-553C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823183G= | CA1239072247 | ADCY3 | c.2886+26C= (n.2886+26C=) c.2883+26C= (n.2883+26C=) n.155+26C= c.1824+26C= (n.1824+26C=) c.2952+26C= (n.2952+26C=) c.3009+26C= (n.3009+26C=) c.3006+26C= (n.3006+26C=) c.2943+26C= (n.2943+26C=) c.2871+26C= (n.2871+26C=) c.2811+26C= (n.2811+26C=) c.2343+26C= (n.2343+26C=) c.2286+26C= (n.2286+26C=) c.2949+26C= (n.2949+26C=) c.2940+26C= (n.2940+26C=) c.2868+26C= (n.2868+26C=) c.2745+26C= (n.2745+26C=) c.2373+26C= (n.2373+26C=) c.2163+26C= (n.2163+26C=) c.2160+26C= (n.2160+26C=) c.2332-553C= (n.2332-553C=) | |
2 | g.24823185G>A | CA1239072249 | ADCY3 | c.2886+24C>T (n.2886+24C>T) c.2883+24C>T (n.2883+24C>T) n.155+24C>T c.1824+24C>T (n.1824+24C>T) c.2952+24C>T (n.2952+24C>T) c.3009+24C>T (n.3009+24C>T) c.3006+24C>T (n.3006+24C>T) c.2943+24C>T (n.2943+24C>T) c.2871+24C>T (n.2871+24C>T) c.2811+24C>T (n.2811+24C>T) c.2343+24C>T (n.2343+24C>T) c.2286+24C>T (n.2286+24C>T) c.2949+24C>T (n.2949+24C>T) c.2940+24C>T (n.2940+24C>T) c.2868+24C>T (n.2868+24C>T) c.2745+24C>T (n.2745+24C>T) c.2373+24C>T (n.2373+24C>T) c.2163+24C>T (n.2163+24C>T) c.2160+24C>T (n.2160+24C>T) c.2332-555C>T (n.2332-555C>T) | dbSNP gnomAD v4 |
2 | g.24823185G= | CA1239072248 | ADCY3 | c.2886+24C= (n.2886+24C=) c.2883+24C= (n.2883+24C=) n.155+24C= c.1824+24C= (n.1824+24C=) c.2952+24C= (n.2952+24C=) c.3009+24C= (n.3009+24C=) c.3006+24C= (n.3006+24C=) c.2943+24C= (n.2943+24C=) c.2871+24C= (n.2871+24C=) c.2811+24C= (n.2811+24C=) c.2343+24C= (n.2343+24C=) c.2286+24C= (n.2286+24C=) c.2949+24C= (n.2949+24C=) c.2940+24C= (n.2940+24C=) c.2868+24C= (n.2868+24C=) c.2745+24C= (n.2745+24C=) c.2373+24C= (n.2373+24C=) c.2163+24C= (n.2163+24C=) c.2160+24C= (n.2160+24C=) c.2332-555C= (n.2332-555C=) | |
2 | g.24823186T>C | CA531356159 | ADCY3 | c.2886+23A>G (n.2886+23A>G) c.2883+23A>G (n.2883+23A>G) n.155+23A>G c.1824+23A>G (n.1824+23A>G) c.2952+23A>G (n.2952+23A>G) c.3009+23A>G (n.3009+23A>G) c.3006+23A>G (n.3006+23A>G) c.2943+23A>G (n.2943+23A>G) c.2871+23A>G (n.2871+23A>G) c.2811+23A>G (n.2811+23A>G) c.2343+23A>G (n.2343+23A>G) c.2286+23A>G (n.2286+23A>G) c.2949+23A>G (n.2949+23A>G) c.2940+23A>G (n.2940+23A>G) c.2868+23A>G (n.2868+23A>G) c.2745+23A>G (n.2745+23A>G) c.2373+23A>G (n.2373+23A>G) c.2163+23A>G (n.2163+23A>G) c.2160+23A>G (n.2160+23A>G) c.2332-556A>G (n.2332-556A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823186T>G | CA2658139529 | ADCY3 | c.2886+23A>C (n.2886+23A>C) c.2883+23A>C (n.2883+23A>C) n.155+23A>C c.1824+23A>C (n.1824+23A>C) c.2952+23A>C (n.2952+23A>C) c.3009+23A>C (n.3009+23A>C) c.3006+23A>C (n.3006+23A>C) c.2943+23A>C (n.2943+23A>C) c.2871+23A>C (n.2871+23A>C) c.2811+23A>C (n.2811+23A>C) c.2343+23A>C (n.2343+23A>C) c.2286+23A>C (n.2286+23A>C) c.2949+23A>C (n.2949+23A>C) c.2940+23A>C (n.2940+23A>C) c.2868+23A>C (n.2868+23A>C) c.2745+23A>C (n.2745+23A>C) c.2373+23A>C (n.2373+23A>C) c.2163+23A>C (n.2163+23A>C) c.2160+23A>C (n.2160+23A>C) c.2332-556A>C (n.2332-556A>C) | gnomAD v4 |
2 | g.24823186T= | CA1239072250 | ADCY3 | c.2886+23A= (n.2886+23A=) c.2883+23A= (n.2883+23A=) n.155+23A= c.1824+23A= (n.1824+23A=) c.2952+23A= (n.2952+23A=) c.3009+23A= (n.3009+23A=) c.3006+23A= (n.3006+23A=) c.2943+23A= (n.2943+23A=) c.2871+23A= (n.2871+23A=) c.2811+23A= (n.2811+23A=) c.2343+23A= (n.2343+23A=) c.2286+23A= (n.2286+23A=) c.2949+23A= (n.2949+23A=) c.2940+23A= (n.2940+23A=) c.2868+23A= (n.2868+23A=) c.2745+23A= (n.2745+23A=) c.2373+23A= (n.2373+23A=) c.2163+23A= (n.2163+23A=) c.2160+23A= (n.2160+23A=) c.2332-556A= (n.2332-556A=) | |
2 | g.24823188C>A | CA2658139531 | ADCY3 | c.2886+21G>T (n.2886+21G>T) c.2883+21G>T (n.2883+21G>T) n.155+21G>T c.1824+21G>T (n.1824+21G>T) c.2952+21G>T (n.2952+21G>T) c.3009+21G>T (n.3009+21G>T) c.3006+21G>T (n.3006+21G>T) c.2943+21G>T (n.2943+21G>T) c.2871+21G>T (n.2871+21G>T) c.2811+21G>T (n.2811+21G>T) c.2343+21G>T (n.2343+21G>T) c.2286+21G>T (n.2286+21G>T) c.2949+21G>T (n.2949+21G>T) c.2940+21G>T (n.2940+21G>T) c.2868+21G>T (n.2868+21G>T) c.2745+21G>T (n.2745+21G>T) c.2373+21G>T (n.2373+21G>T) c.2163+21G>T (n.2163+21G>T) c.2160+21G>T (n.2160+21G>T) c.2332-558G>T (n.2332-558G>T) | gnomAD v4 |
2 | g.24823188C>T | CA2658139532 | ADCY3 | c.2886+21G>A (n.2886+21G>A) c.2883+21G>A (n.2883+21G>A) n.155+21G>A c.1824+21G>A (n.1824+21G>A) c.2952+21G>A (n.2952+21G>A) c.3009+21G>A (n.3009+21G>A) c.3006+21G>A (n.3006+21G>A) c.2943+21G>A (n.2943+21G>A) c.2871+21G>A (n.2871+21G>A) c.2811+21G>A (n.2811+21G>A) c.2343+21G>A (n.2343+21G>A) c.2286+21G>A (n.2286+21G>A) c.2949+21G>A (n.2949+21G>A) c.2940+21G>A (n.2940+21G>A) c.2868+21G>A (n.2868+21G>A) c.2745+21G>A (n.2745+21G>A) c.2373+21G>A (n.2373+21G>A) c.2163+21G>A (n.2163+21G>A) c.2160+21G>A (n.2160+21G>A) c.2332-558G>A (n.2332-558G>A) | gnomAD v4 |
2 | g.24823189A>G | CA2576692127 | ADCY3 | c.2886+20T>C (n.2886+20T>C) c.2883+20T>C (n.2883+20T>C) n.155+20T>C c.1824+20T>C (n.1824+20T>C) c.2952+20T>C (n.2952+20T>C) c.3009+20T>C (n.3009+20T>C) c.3006+20T>C (n.3006+20T>C) c.2943+20T>C (n.2943+20T>C) c.2871+20T>C (n.2871+20T>C) c.2811+20T>C (n.2811+20T>C) c.2343+20T>C (n.2343+20T>C) c.2286+20T>C (n.2286+20T>C) c.2949+20T>C (n.2949+20T>C) c.2940+20T>C (n.2940+20T>C) c.2868+20T>C (n.2868+20T>C) c.2745+20T>C (n.2745+20T>C) c.2373+20T>C (n.2373+20T>C) c.2163+20T>C (n.2163+20T>C) c.2160+20T>C (n.2160+20T>C) c.2332-559T>C (n.2332-559T>C) | |
2 | g.24823190G>A | CA531356160 | ADCY3 | c.2886+19C>T (n.2886+19C>T) c.2883+19C>T (n.2883+19C>T) n.155+19C>T c.1824+19C>T (n.1824+19C>T) c.2952+19C>T (n.2952+19C>T) c.3009+19C>T (n.3009+19C>T) c.3006+19C>T (n.3006+19C>T) c.2943+19C>T (n.2943+19C>T) c.2871+19C>T (n.2871+19C>T) c.2811+19C>T (n.2811+19C>T) c.2343+19C>T (n.2343+19C>T) c.2286+19C>T (n.2286+19C>T) c.2949+19C>T (n.2949+19C>T) c.2940+19C>T (n.2940+19C>T) c.2868+19C>T (n.2868+19C>T) c.2745+19C>T (n.2745+19C>T) c.2373+19C>T (n.2373+19C>T) c.2163+19C>T (n.2163+19C>T) c.2160+19C>T (n.2160+19C>T) c.2332-560C>T (n.2332-560C>T) | dbSNP gnomAD v2 |
2 | g.24823190G>C | CA2658139533 | ADCY3 | c.2886+19C>G (n.2886+19C>G) c.2883+19C>G (n.2883+19C>G) n.155+19C>G c.1824+19C>G (n.1824+19C>G) c.2952+19C>G (n.2952+19C>G) c.3009+19C>G (n.3009+19C>G) c.3006+19C>G (n.3006+19C>G) c.2943+19C>G (n.2943+19C>G) c.2871+19C>G (n.2871+19C>G) c.2811+19C>G (n.2811+19C>G) c.2343+19C>G (n.2343+19C>G) c.2286+19C>G (n.2286+19C>G) c.2949+19C>G (n.2949+19C>G) c.2940+19C>G (n.2940+19C>G) c.2868+19C>G (n.2868+19C>G) c.2745+19C>G (n.2745+19C>G) c.2373+19C>G (n.2373+19C>G) c.2163+19C>G (n.2163+19C>G) c.2160+19C>G (n.2160+19C>G) c.2332-560C>G (n.2332-560C>G) | gnomAD v4 |
2 | g.24823190G= | CA1239072251 | ADCY3 | c.2886+19C= (n.2886+19C=) c.2883+19C= (n.2883+19C=) n.155+19C= c.1824+19C= (n.1824+19C=) c.2952+19C= (n.2952+19C=) c.3009+19C= (n.3009+19C=) c.3006+19C= (n.3006+19C=) c.2943+19C= (n.2943+19C=) c.2871+19C= (n.2871+19C=) c.2811+19C= (n.2811+19C=) c.2343+19C= (n.2343+19C=) c.2286+19C= (n.2286+19C=) c.2949+19C= (n.2949+19C=) c.2940+19C= (n.2940+19C=) c.2868+19C= (n.2868+19C=) c.2745+19C= (n.2745+19C=) c.2373+19C= (n.2373+19C=) c.2163+19C= (n.2163+19C=) c.2160+19C= (n.2160+19C=) c.2332-560C= (n.2332-560C=) | |
2 | g.24823190G>T | CA2658139534 | ADCY3 | c.2886+19C>A (n.2886+19C>A) c.2883+19C>A (n.2883+19C>A) n.155+19C>A c.1824+19C>A (n.1824+19C>A) c.2952+19C>A (n.2952+19C>A) c.3009+19C>A (n.3009+19C>A) c.3006+19C>A (n.3006+19C>A) c.2943+19C>A (n.2943+19C>A) c.2871+19C>A (n.2871+19C>A) c.2811+19C>A (n.2811+19C>A) c.2343+19C>A (n.2343+19C>A) c.2286+19C>A (n.2286+19C>A) c.2949+19C>A (n.2949+19C>A) c.2940+19C>A (n.2940+19C>A) c.2868+19C>A (n.2868+19C>A) c.2745+19C>A (n.2745+19C>A) c.2373+19C>A (n.2373+19C>A) c.2163+19C>A (n.2163+19C>A) c.2160+19C>A (n.2160+19C>A) c.2332-560C>A (n.2332-560C>A) | gnomAD v4 |
2 | g.24823191G>A | CA531356161 | ADCY3 | c.2886+18C>T (n.2886+18C>T) c.2883+18C>T (n.2883+18C>T) n.155+18C>T c.1824+18C>T (n.1824+18C>T) c.2952+18C>T (n.2952+18C>T) c.3009+18C>T (n.3009+18C>T) c.3006+18C>T (n.3006+18C>T) c.2943+18C>T (n.2943+18C>T) c.2871+18C>T (n.2871+18C>T) c.2811+18C>T (n.2811+18C>T) c.2343+18C>T (n.2343+18C>T) c.2286+18C>T (n.2286+18C>T) c.2949+18C>T (n.2949+18C>T) c.2940+18C>T (n.2940+18C>T) c.2868+18C>T (n.2868+18C>T) c.2745+18C>T (n.2745+18C>T) c.2373+18C>T (n.2373+18C>T) c.2163+18C>T (n.2163+18C>T) c.2160+18C>T (n.2160+18C>T) c.2332-561C>T (n.2332-561C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823191G= | CA1239072252 | ADCY3 | c.2886+18C= (n.2886+18C=) c.2883+18C= (n.2883+18C=) n.155+18C= c.1824+18C= (n.1824+18C=) c.2952+18C= (n.2952+18C=) c.3009+18C= (n.3009+18C=) c.3006+18C= (n.3006+18C=) c.2943+18C= (n.2943+18C=) c.2871+18C= (n.2871+18C=) c.2811+18C= (n.2811+18C=) c.2343+18C= (n.2343+18C=) c.2286+18C= (n.2286+18C=) c.2949+18C= (n.2949+18C=) c.2940+18C= (n.2940+18C=) c.2868+18C= (n.2868+18C=) c.2745+18C= (n.2745+18C=) c.2373+18C= (n.2373+18C=) c.2163+18C= (n.2163+18C=) c.2160+18C= (n.2160+18C=) c.2332-561C= (n.2332-561C=) | |
2 | g.24823192G>T | CA2658139535 | ADCY3 | c.2886+17C>A (n.2886+17C>A) c.2883+17C>A (n.2883+17C>A) n.155+17C>A c.1824+17C>A (n.1824+17C>A) c.2952+17C>A (n.2952+17C>A) c.3009+17C>A (n.3009+17C>A) c.3006+17C>A (n.3006+17C>A) c.2943+17C>A (n.2943+17C>A) c.2871+17C>A (n.2871+17C>A) c.2811+17C>A (n.2811+17C>A) c.2343+17C>A (n.2343+17C>A) c.2286+17C>A (n.2286+17C>A) c.2949+17C>A (n.2949+17C>A) c.2940+17C>A (n.2940+17C>A) c.2868+17C>A (n.2868+17C>A) c.2745+17C>A (n.2745+17C>A) c.2373+17C>A (n.2373+17C>A) c.2163+17C>A (n.2163+17C>A) c.2160+17C>A (n.2160+17C>A) c.2332-562C>A (n.2332-562C>A) | gnomAD v4 |
2 | g.24823193T>G | CA1239072253 | ADCY3 | c.2886+16A>C (n.2886+16A>C) c.2883+16A>C (n.2883+16A>C) n.155+16A>C c.1824+16A>C (n.1824+16A>C) c.2952+16A>C (n.2952+16A>C) c.3009+16A>C (n.3009+16A>C) c.3006+16A>C (n.3006+16A>C) c.2943+16A>C (n.2943+16A>C) c.2871+16A>C (n.2871+16A>C) c.2811+16A>C (n.2811+16A>C) c.2343+16A>C (n.2343+16A>C) c.2286+16A>C (n.2286+16A>C) c.2949+16A>C (n.2949+16A>C) c.2940+16A>C (n.2940+16A>C) c.2868+16A>C (n.2868+16A>C) c.2745+16A>C (n.2745+16A>C) c.2373+16A>C (n.2373+16A>C) c.2163+16A>C (n.2163+16A>C) c.2160+16A>C (n.2160+16A>C) c.2332-563A>C (n.2332-563A>C) | dbSNP gnomAD v4 |
2 | g.24823193T= | CA1239072254 | ADCY3 | c.2886+16A= (n.2886+16A=) c.2883+16A= (n.2883+16A=) n.155+16A= c.1824+16A= (n.1824+16A=) c.2952+16A= (n.2952+16A=) c.3009+16A= (n.3009+16A=) c.3006+16A= (n.3006+16A=) c.2943+16A= (n.2943+16A=) c.2871+16A= (n.2871+16A=) c.2811+16A= (n.2811+16A=) c.2343+16A= (n.2343+16A=) c.2286+16A= (n.2286+16A=) c.2949+16A= (n.2949+16A=) c.2940+16A= (n.2940+16A=) c.2868+16A= (n.2868+16A=) c.2745+16A= (n.2745+16A=) c.2373+16A= (n.2373+16A=) c.2163+16A= (n.2163+16A=) c.2160+16A= (n.2160+16A=) c.2332-563A= (n.2332-563A=) | |
2 | g.24823193_24823194delinsTG | CA1239072255 | ADCY3 | c.2886+15_2886+16delinsCA (n.2886+15_2886+16delinsCA) c.2883+15_2883+16delinsCA (n.2883+15_2883+16delinsCA) n.155+15_155+16delinsCA c.1824+15_1824+16delinsCA (n.1824+15_1824+16delinsCA) c.2952+15_2952+16delinsCA (n.2952+15_2952+16delinsCA) c.3009+15_3009+16delinsCA (n.3009+15_3009+16delinsCA) c.3006+15_3006+16delinsCA (n.3006+15_3006+16delinsCA) c.2943+15_2943+16delinsCA (n.2943+15_2943+16delinsCA) c.2871+15_2871+16delinsCA (n.2871+15_2871+16delinsCA) c.2811+15_2811+16delinsCA (n.2811+15_2811+16delinsCA) c.2343+15_2343+16delinsCA (n.2343+15_2343+16delinsCA) c.2286+15_2286+16delinsCA (n.2286+15_2286+16delinsCA) c.2949+15_2949+16delinsCA (n.2949+15_2949+16delinsCA) c.2940+15_2940+16delinsCA (n.2940+15_2940+16delinsCA) c.2868+15_2868+16delinsCA (n.2868+15_2868+16delinsCA) c.2745+15_2745+16delinsCA (n.2745+15_2745+16delinsCA) c.2373+15_2373+16delinsCA (n.2373+15_2373+16delinsCA) c.2163+15_2163+16delinsCA (n.2163+15_2163+16delinsCA) c.2160+15_2160+16delinsCA (n.2160+15_2160+16delinsCA) c.2332-564_2332-563delinsCA (n.2332-564_2332-563delinsCA) | |
2 | g.24823194G>A | CA43682396 | ADCY3 | c.2886+15C>T (n.2886+15C>T) c.2883+15C>T (n.2883+15C>T) n.155+15C>T c.1824+15C>T (n.1824+15C>T) c.2952+15C>T (n.2952+15C>T) c.3009+15C>T (n.3009+15C>T) c.3006+15C>T (n.3006+15C>T) c.2943+15C>T (n.2943+15C>T) c.2871+15C>T (n.2871+15C>T) c.2811+15C>T (n.2811+15C>T) c.2343+15C>T (n.2343+15C>T) c.2286+15C>T (n.2286+15C>T) c.2949+15C>T (n.2949+15C>T) c.2940+15C>T (n.2940+15C>T) c.2868+15C>T (n.2868+15C>T) c.2745+15C>T (n.2745+15C>T) c.2373+15C>T (n.2373+15C>T) c.2163+15C>T (n.2163+15C>T) c.2160+15C>T (n.2160+15C>T) c.2332-564C>T (n.2332-564C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823194G= | CA1239072256 | ADCY3 | c.2886+15C= (n.2886+15C=) c.2883+15C= (n.2883+15C=) n.155+15C= c.1824+15C= (n.1824+15C=) c.2952+15C= (n.2952+15C=) c.3009+15C= (n.3009+15C=) c.3006+15C= (n.3006+15C=) c.2943+15C= (n.2943+15C=) c.2871+15C= (n.2871+15C=) c.2811+15C= (n.2811+15C=) c.2343+15C= (n.2343+15C=) c.2286+15C= (n.2286+15C=) c.2949+15C= (n.2949+15C=) c.2940+15C= (n.2940+15C=) c.2868+15C= (n.2868+15C=) c.2745+15C= (n.2745+15C=) c.2373+15C= (n.2373+15C=) c.2163+15C= (n.2163+15C=) c.2160+15C= (n.2160+15C=) c.2332-564C= (n.2332-564C=) | |
2 | g.24823196del | CA531356162 | ADCY3 | c.2886+15del (n.2886+15del) c.2883+15del (n.2883+15del) n.155+15del c.1824+15del (n.1824+15del) c.2952+15del (n.2952+15del) c.3009+15del (n.3009+15del) c.3006+15del (n.3006+15del) c.2943+15del (n.2943+15del) c.2871+15del (n.2871+15del) c.2811+15del (n.2811+15del) c.2343+15del (n.2343+15del) c.2286+15del (n.2286+15del) c.2949+15del (n.2949+15del) c.2940+15del (n.2940+15del) c.2868+15del (n.2868+15del) c.2745+15del (n.2745+15del) c.2373+15del (n.2373+15del) c.2163+15del (n.2163+15del) c.2160+15del (n.2160+15del) c.2332-564del (n.2332-564del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823195G>C | CA2658139540 | ADCY3 | c.2886+14C>G (n.2886+14C>G) c.2883+14C>G (n.2883+14C>G) n.155+14C>G c.1824+14C>G (n.1824+14C>G) c.2952+14C>G (n.2952+14C>G) c.3009+14C>G (n.3009+14C>G) c.3006+14C>G (n.3006+14C>G) c.2943+14C>G (n.2943+14C>G) c.2871+14C>G (n.2871+14C>G) c.2811+14C>G (n.2811+14C>G) c.2343+14C>G (n.2343+14C>G) c.2286+14C>G (n.2286+14C>G) c.2949+14C>G (n.2949+14C>G) c.2940+14C>G (n.2940+14C>G) c.2868+14C>G (n.2868+14C>G) c.2745+14C>G (n.2745+14C>G) c.2373+14C>G (n.2373+14C>G) c.2163+14C>G (n.2163+14C>G) c.2160+14C>G (n.2160+14C>G) c.2332-565C>G (n.2332-565C>G) | gnomAD v4 |
2 | g.24823196G>C | CA2658139541 | ADCY3 | c.2886+13C>G (n.2886+13C>G) c.2883+13C>G (n.2883+13C>G) n.155+13C>G c.1824+13C>G (n.1824+13C>G) c.2952+13C>G (n.2952+13C>G) c.3009+13C>G (n.3009+13C>G) c.3006+13C>G (n.3006+13C>G) c.2943+13C>G (n.2943+13C>G) c.2871+13C>G (n.2871+13C>G) c.2811+13C>G (n.2811+13C>G) c.2343+13C>G (n.2343+13C>G) c.2286+13C>G (n.2286+13C>G) c.2949+13C>G (n.2949+13C>G) c.2940+13C>G (n.2940+13C>G) c.2868+13C>G (n.2868+13C>G) c.2745+13C>G (n.2745+13C>G) c.2373+13C>G (n.2373+13C>G) c.2163+13C>G (n.2163+13C>G) c.2160+13C>G (n.2160+13C>G) c.2332-566C>G (n.2332-566C>G) | gnomAD v4 |
2 | g.24823196G= | CA1239072257 | ADCY3 | c.2886+13C= (n.2886+13C=) c.2883+13C= (n.2883+13C=) n.155+13C= c.1824+13C= (n.1824+13C=) c.2952+13C= (n.2952+13C=) c.3009+13C= (n.3009+13C=) c.3006+13C= (n.3006+13C=) c.2943+13C= (n.2943+13C=) c.2871+13C= (n.2871+13C=) c.2811+13C= (n.2811+13C=) c.2343+13C= (n.2343+13C=) c.2286+13C= (n.2286+13C=) c.2949+13C= (n.2949+13C=) c.2940+13C= (n.2940+13C=) c.2868+13C= (n.2868+13C=) c.2745+13C= (n.2745+13C=) c.2373+13C= (n.2373+13C=) c.2163+13C= (n.2163+13C=) c.2160+13C= (n.2160+13C=) c.2332-566C= (n.2332-566C=) | |
2 | g.24823196G>T | CA2576692128 | ADCY3 | c.2886+13C>A (n.2886+13C>A) c.2883+13C>A (n.2883+13C>A) n.155+13C>A c.1824+13C>A (n.1824+13C>A) c.2952+13C>A (n.2952+13C>A) c.3009+13C>A (n.3009+13C>A) c.3006+13C>A (n.3006+13C>A) c.2943+13C>A (n.2943+13C>A) c.2871+13C>A (n.2871+13C>A) c.2811+13C>A (n.2811+13C>A) c.2343+13C>A (n.2343+13C>A) c.2286+13C>A (n.2286+13C>A) c.2949+13C>A (n.2949+13C>A) c.2940+13C>A (n.2940+13C>A) c.2868+13C>A (n.2868+13C>A) c.2745+13C>A (n.2745+13C>A) c.2373+13C>A (n.2373+13C>A) c.2163+13C>A (n.2163+13C>A) c.2160+13C>A (n.2160+13C>A) c.2332-566C>A (n.2332-566C>A) | |
2 | g.24823197A= | CA1239072258 | ADCY3 | c.2886+12T= (n.2886+12T=) c.2883+12T= (n.2883+12T=) n.155+12T= c.1824+12T= (n.1824+12T=) c.2952+12T= (n.2952+12T=) c.3009+12T= (n.3009+12T=) c.3006+12T= (n.3006+12T=) c.2943+12T= (n.2943+12T=) c.2871+12T= (n.2871+12T=) c.2811+12T= (n.2811+12T=) c.2343+12T= (n.2343+12T=) c.2286+12T= (n.2286+12T=) c.2949+12T= (n.2949+12T=) c.2940+12T= (n.2940+12T=) c.2868+12T= (n.2868+12T=) c.2745+12T= (n.2745+12T=) c.2373+12T= (n.2373+12T=) c.2163+12T= (n.2163+12T=) c.2160+12T= (n.2160+12T=) c.2332-567T= (n.2332-567T=) | |
2 | g.24823197A>G | CA1553596 | ADCY3 | c.2886+12T>C (n.2886+12T>C) c.2883+12T>C (n.2883+12T>C) n.155+12T>C c.1824+12T>C (n.1824+12T>C) c.2952+12T>C (n.2952+12T>C) c.3009+12T>C (n.3009+12T>C) c.3006+12T>C (n.3006+12T>C) c.2943+12T>C (n.2943+12T>C) c.2871+12T>C (n.2871+12T>C) c.2811+12T>C (n.2811+12T>C) c.2343+12T>C (n.2343+12T>C) c.2286+12T>C (n.2286+12T>C) c.2949+12T>C (n.2949+12T>C) c.2940+12T>C (n.2940+12T>C) c.2868+12T>C (n.2868+12T>C) c.2745+12T>C (n.2745+12T>C) c.2373+12T>C (n.2373+12T>C) c.2163+12T>C (n.2163+12T>C) c.2160+12T>C (n.2160+12T>C) c.2332-567T>C (n.2332-567T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823197dup | CA531356163 | ADCY3 | c.2886+12dup (n.2886+12dup) c.2883+12dup (n.2883+12dup) n.155+12dup c.1824+12dup (n.1824+12dup) c.2952+12dup (n.2952+12dup) c.3009+12dup (n.3009+12dup) c.3006+12dup (n.3006+12dup) c.2943+12dup (n.2943+12dup) c.2871+12dup (n.2871+12dup) c.2811+12dup (n.2811+12dup) c.2343+12dup (n.2343+12dup) c.2286+12dup (n.2286+12dup) c.2949+12dup (n.2949+12dup) c.2940+12dup (n.2940+12dup) c.2868+12dup (n.2868+12dup) c.2745+12dup (n.2745+12dup) c.2373+12dup (n.2373+12dup) c.2163+12dup (n.2163+12dup) c.2160+12dup (n.2160+12dup) c.2332-567dup (n.2332-567dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823198T>C | CA1553597 | ADCY3 | c.2886+11A>G (n.2886+11A>G) c.2883+11A>G (n.2883+11A>G) n.155+11A>G c.1824+11A>G (n.1824+11A>G) c.2952+11A>G (n.2952+11A>G) c.3009+11A>G (n.3009+11A>G) c.3006+11A>G (n.3006+11A>G) c.2943+11A>G (n.2943+11A>G) c.2871+11A>G (n.2871+11A>G) c.2811+11A>G (n.2811+11A>G) c.2343+11A>G (n.2343+11A>G) c.2286+11A>G (n.2286+11A>G) c.2949+11A>G (n.2949+11A>G) c.2940+11A>G (n.2940+11A>G) c.2868+11A>G (n.2868+11A>G) c.2745+11A>G (n.2745+11A>G) c.2373+11A>G (n.2373+11A>G) c.2163+11A>G (n.2163+11A>G) c.2160+11A>G (n.2160+11A>G) c.2332-568A>G (n.2332-568A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823198T= | CA1239072259 | ADCY3 | c.2886+11A= (n.2886+11A=) c.2883+11A= (n.2883+11A=) n.155+11A= c.1824+11A= (n.1824+11A=) c.2952+11A= (n.2952+11A=) c.3009+11A= (n.3009+11A=) c.3006+11A= (n.3006+11A=) c.2943+11A= (n.2943+11A=) c.2871+11A= (n.2871+11A=) c.2811+11A= (n.2811+11A=) c.2343+11A= (n.2343+11A=) c.2286+11A= (n.2286+11A=) c.2949+11A= (n.2949+11A=) c.2940+11A= (n.2940+11A=) c.2868+11A= (n.2868+11A=) c.2745+11A= (n.2745+11A=) c.2373+11A= (n.2373+11A=) c.2163+11A= (n.2163+11A=) c.2160+11A= (n.2160+11A=) c.2332-568A= (n.2332-568A=) | |
2 | g.24823201G>A | CA2658139547 | ADCY3 | c.2886+8C>T (n.2886+8C>T) c.2883+8C>T (n.2883+8C>T) n.155+8C>T c.1824+8C>T (n.1824+8C>T) c.2952+8C>T (n.2952+8C>T) c.3009+8C>T (n.3009+8C>T) c.3006+8C>T (n.3006+8C>T) c.2943+8C>T (n.2943+8C>T) c.2871+8C>T (n.2871+8C>T) c.2811+8C>T (n.2811+8C>T) c.2343+8C>T (n.2343+8C>T) c.2286+8C>T (n.2286+8C>T) c.2949+8C>T (n.2949+8C>T) c.2940+8C>T (n.2940+8C>T) c.2868+8C>T (n.2868+8C>T) c.2745+8C>T (n.2745+8C>T) c.2373+8C>T (n.2373+8C>T) c.2163+8C>T (n.2163+8C>T) c.2160+8C>T (n.2160+8C>T) c.2332-571C>T (n.2332-571C>T) | gnomAD v4 |
2 | g.24823202C>A | CA2658139548 | ADCY3 | c.2886+7G>T (n.2886+7G>T) c.2883+7G>T (n.2883+7G>T) n.155+7G>T c.1824+7G>T (n.1824+7G>T) c.2952+7G>T (n.2952+7G>T) c.3009+7G>T (n.3009+7G>T) c.3006+7G>T (n.3006+7G>T) c.2943+7G>T (n.2943+7G>T) c.2871+7G>T (n.2871+7G>T) c.2811+7G>T (n.2811+7G>T) c.2343+7G>T (n.2343+7G>T) c.2286+7G>T (n.2286+7G>T) c.2949+7G>T (n.2949+7G>T) c.2940+7G>T (n.2940+7G>T) c.2868+7G>T (n.2868+7G>T) c.2745+7G>T (n.2745+7G>T) c.2373+7G>T (n.2373+7G>T) c.2163+7G>T (n.2163+7G>T) c.2160+7G>T (n.2160+7G>T) c.2332-572G>T (n.2332-572G>T) | gnomAD v4 |
2 | g.24823202C= | CA1239072261 | ADCY3 | c.2886+7G= (n.2886+7G=) c.2883+7G= (n.2883+7G=) n.155+7G= c.1824+7G= (n.1824+7G=) c.2952+7G= (n.2952+7G=) c.3009+7G= (n.3009+7G=) c.3006+7G= (n.3006+7G=) c.2943+7G= (n.2943+7G=) c.2871+7G= (n.2871+7G=) c.2811+7G= (n.2811+7G=) c.2343+7G= (n.2343+7G=) c.2286+7G= (n.2286+7G=) c.2949+7G= (n.2949+7G=) c.2940+7G= (n.2940+7G=) c.2868+7G= (n.2868+7G=) c.2745+7G= (n.2745+7G=) c.2373+7G= (n.2373+7G=) c.2163+7G= (n.2163+7G=) c.2160+7G= (n.2160+7G=) c.2332-572G= (n.2332-572G=) | |
2 | g.24823202C>G | CA1239072260 | ADCY3 | c.2886+7G>C (n.2886+7G>C) c.2883+7G>C (n.2883+7G>C) n.155+7G>C c.1824+7G>C (n.1824+7G>C) c.2952+7G>C (n.2952+7G>C) c.3009+7G>C (n.3009+7G>C) c.3006+7G>C (n.3006+7G>C) c.2943+7G>C (n.2943+7G>C) c.2871+7G>C (n.2871+7G>C) c.2811+7G>C (n.2811+7G>C) c.2343+7G>C (n.2343+7G>C) c.2286+7G>C (n.2286+7G>C) c.2949+7G>C (n.2949+7G>C) c.2940+7G>C (n.2940+7G>C) c.2868+7G>C (n.2868+7G>C) c.2745+7G>C (n.2745+7G>C) c.2373+7G>C (n.2373+7G>C) c.2163+7G>C (n.2163+7G>C) c.2160+7G>C (n.2160+7G>C) c.2332-572G>C (n.2332-572G>C) | dbSNP gnomAD v4 |
2 | g.24823202C>T | CA2658139549 | ADCY3 | c.2886+7G>A (n.2886+7G>A) c.2883+7G>A (n.2883+7G>A) n.155+7G>A c.1824+7G>A (n.1824+7G>A) c.2952+7G>A (n.2952+7G>A) c.3009+7G>A (n.3009+7G>A) c.3006+7G>A (n.3006+7G>A) c.2943+7G>A (n.2943+7G>A) c.2871+7G>A (n.2871+7G>A) c.2811+7G>A (n.2811+7G>A) c.2343+7G>A (n.2343+7G>A) c.2286+7G>A (n.2286+7G>A) c.2949+7G>A (n.2949+7G>A) c.2940+7G>A (n.2940+7G>A) c.2868+7G>A (n.2868+7G>A) c.2745+7G>A (n.2745+7G>A) c.2373+7G>A (n.2373+7G>A) c.2163+7G>A (n.2163+7G>A) c.2160+7G>A (n.2160+7G>A) c.2332-572G>A (n.2332-572G>A) | gnomAD v4 |
2 | g.24823203A= | CA1239072262 | ADCY3 | c.2886+6T= (n.2886+6T=) c.2883+6T= (n.2883+6T=) n.155+6T= c.1824+6T= (n.1824+6T=) c.2952+6T= (n.2952+6T=) c.3009+6T= (n.3009+6T=) c.3006+6T= (n.3006+6T=) c.2943+6T= (n.2943+6T=) c.2871+6T= (n.2871+6T=) c.2811+6T= (n.2811+6T=) c.2343+6T= (n.2343+6T=) c.2286+6T= (n.2286+6T=) c.2949+6T= (n.2949+6T=) c.2940+6T= (n.2940+6T=) c.2868+6T= (n.2868+6T=) c.2745+6T= (n.2745+6T=) c.2373+6T= (n.2373+6T=) c.2163+6T= (n.2163+6T=) c.2160+6T= (n.2160+6T=) c.2332-573T= (n.2332-573T=) | |
2 | g.24823203A>G | CA767116465 | ADCY3 | c.2886+6T>C (n.2886+6T>C) c.2883+6T>C (n.2883+6T>C) n.155+6T>C c.1824+6T>C (n.1824+6T>C) c.2952+6T>C (n.2952+6T>C) c.3009+6T>C (n.3009+6T>C) c.3006+6T>C (n.3006+6T>C) c.2943+6T>C (n.2943+6T>C) c.2871+6T>C (n.2871+6T>C) c.2811+6T>C (n.2811+6T>C) c.2343+6T>C (n.2343+6T>C) c.2286+6T>C (n.2286+6T>C) c.2949+6T>C (n.2949+6T>C) c.2940+6T>C (n.2940+6T>C) c.2868+6T>C (n.2868+6T>C) c.2745+6T>C (n.2745+6T>C) c.2373+6T>C (n.2373+6T>C) c.2163+6T>C (n.2163+6T>C) c.2160+6T>C (n.2160+6T>C) c.2332-573T>C (n.2332-573T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823205_24823207delinsTCA | CA1239072263 | ADCY3 | c.2886+2_2886+4delinsTGA (n.2886+2_2886+4delinsTGA) c.2883+2_2883+4delinsTGA (n.2883+2_2883+4delinsTGA) n.155+2_155+4delinsTGA c.1824+2_1824+4delinsTGA (n.1824+2_1824+4delinsTGA) c.2952+2_2952+4delinsTGA (n.2952+2_2952+4delinsTGA) c.3009+2_3009+4delinsTGA (n.3009+2_3009+4delinsTGA) c.3006+2_3006+4delinsTGA (n.3006+2_3006+4delinsTGA) c.2943+2_2943+4delinsTGA (n.2943+2_2943+4delinsTGA) c.2871+2_2871+4delinsTGA (n.2871+2_2871+4delinsTGA) c.2811+2_2811+4delinsTGA (n.2811+2_2811+4delinsTGA) c.2343+2_2343+4delinsTGA (n.2343+2_2343+4delinsTGA) c.2286+2_2286+4delinsTGA (n.2286+2_2286+4delinsTGA) c.2949+2_2949+4delinsTGA (n.2949+2_2949+4delinsTGA) c.2940+2_2940+4delinsTGA (n.2940+2_2940+4delinsTGA) c.2868+2_2868+4delinsTGA (n.2868+2_2868+4delinsTGA) c.2745+2_2745+4delinsTGA (n.2745+2_2745+4delinsTGA) c.2373+2_2373+4delinsTGA (n.2373+2_2373+4delinsTGA) c.2163+2_2163+4delinsTGA (n.2163+2_2163+4delinsTGA) c.2160+2_2160+4delinsTGA (n.2160+2_2160+4delinsTGA) c.2332-577_2332-575delinsTGA (n.2332-577_2332-575delinsTGA) | |
2 | g.24823206C>A | CA2658139551 | ADCY3 | c.2886+3G>T (n.2886+3G>T) c.2883+3G>T (n.2883+3G>T) n.155+3G>T c.1824+3G>T (n.1824+3G>T) c.2952+3G>T (n.2952+3G>T) c.3009+3G>T (n.3009+3G>T) c.3006+3G>T (n.3006+3G>T) c.2943+3G>T (n.2943+3G>T) c.2871+3G>T (n.2871+3G>T) c.2811+3G>T (n.2811+3G>T) c.2343+3G>T (n.2343+3G>T) c.2286+3G>T (n.2286+3G>T) c.2949+3G>T (n.2949+3G>T) c.2940+3G>T (n.2940+3G>T) c.2868+3G>T (n.2868+3G>T) c.2745+3G>T (n.2745+3G>T) c.2373+3G>T (n.2373+3G>T) c.2163+3G>T (n.2163+3G>T) c.2160+3G>T (n.2160+3G>T) c.2332-576G>T (n.2332-576G>T) | gnomAD v4 |
2 | g.24823208_24823209del | CA1239072264 | ADCY3 | c.2886+2_2886+3del c.2883+2_2883+3del n.155+2_155+3del c.1824+2_1824+3del c.2952+2_2952+3del c.3009+2_3009+3del c.3006+2_3006+3del c.2943+2_2943+3del c.2871+2_2871+3del c.2811+2_2811+3del c.2343+2_2343+3del c.2286+2_2286+3del c.2949+2_2949+3del c.2940+2_2940+3del c.2868+2_2868+3del c.2745+2_2745+3del c.2373+2_2373+3del c.2163+2_2163+3del c.2160+2_2160+3del c.2332-577_2332-576del (n.2332-577_2332-576del) | dbSNP gnomAD v4 |
2 | g.24823207A>C | CA346062441 | ADCY3 | c.2886+2T>G (n.2886+2T>G) c.2883+2T>G (n.2883+2T>G) n.155+2T>G c.1824+2T>G (n.1824+2T>G) c.2952+2T>G (n.2952+2T>G) c.3009+2T>G (n.3009+2T>G) c.3006+2T>G (n.3006+2T>G) c.2943+2T>G (n.2943+2T>G) c.2871+2T>G (n.2871+2T>G) c.2811+2T>G (n.2811+2T>G) c.2343+2T>G (n.2343+2T>G) c.2286+2T>G (n.2286+2T>G) c.2949+2T>G (n.2949+2T>G) c.2940+2T>G (n.2940+2T>G) c.2868+2T>G (n.2868+2T>G) c.2745+2T>G (n.2745+2T>G) c.2373+2T>G (n.2373+2T>G) c.2163+2T>G (n.2163+2T>G) c.2160+2T>G (n.2160+2T>G) c.2332-577T>G (n.2332-577T>G) | |
2 | g.24823207A>G | CA346062442 | ADCY3 | c.2886+2T>C (n.2886+2T>C) c.2883+2T>C (n.2883+2T>C) n.155+2T>C c.1824+2T>C (n.1824+2T>C) c.2952+2T>C (n.2952+2T>C) c.3009+2T>C (n.3009+2T>C) c.3006+2T>C (n.3006+2T>C) c.2943+2T>C (n.2943+2T>C) c.2871+2T>C (n.2871+2T>C) c.2811+2T>C (n.2811+2T>C) c.2343+2T>C (n.2343+2T>C) c.2286+2T>C (n.2286+2T>C) c.2949+2T>C (n.2949+2T>C) c.2940+2T>C (n.2940+2T>C) c.2868+2T>C (n.2868+2T>C) c.2745+2T>C (n.2745+2T>C) c.2373+2T>C (n.2373+2T>C) c.2163+2T>C (n.2163+2T>C) c.2160+2T>C (n.2160+2T>C) c.2332-577T>C (n.2332-577T>C) | |
2 | g.24823207A>T | CA346062443 | ADCY3 | c.2886+2T>A (n.2886+2T>A) c.2883+2T>A (n.2883+2T>A) n.155+2T>A c.1824+2T>A (n.1824+2T>A) c.2952+2T>A (n.2952+2T>A) c.3009+2T>A (n.3009+2T>A) c.3006+2T>A (n.3006+2T>A) c.2943+2T>A (n.2943+2T>A) c.2871+2T>A (n.2871+2T>A) c.2811+2T>A (n.2811+2T>A) c.2343+2T>A (n.2343+2T>A) c.2286+2T>A (n.2286+2T>A) c.2949+2T>A (n.2949+2T>A) c.2940+2T>A (n.2940+2T>A) c.2868+2T>A (n.2868+2T>A) c.2745+2T>A (n.2745+2T>A) c.2373+2T>A (n.2373+2T>A) c.2163+2T>A (n.2163+2T>A) c.2160+2T>A (n.2160+2T>A) c.2332-577T>A (n.2332-577T>A) | |
2 | g.24823207dup | CA2501790013 | ADCY3 | c.2886+2dup (n.2886+2dup) c.2883+2dup (n.2883+2dup) n.155+2dup c.1824+2dup (n.1824+2dup) c.2952+2dup (n.2952+2dup) c.3009+2dup (n.3009+2dup) c.3006+2dup (n.3006+2dup) c.2943+2dup (n.2943+2dup) c.2871+2dup (n.2871+2dup) c.2811+2dup (n.2811+2dup) c.2343+2dup (n.2343+2dup) c.2286+2dup (n.2286+2dup) c.2949+2dup (n.2949+2dup) c.2940+2dup (n.2940+2dup) c.2868+2dup (n.2868+2dup) c.2745+2dup (n.2745+2dup) c.2373+2dup (n.2373+2dup) c.2163+2dup (n.2163+2dup) c.2160+2dup (n.2160+2dup) c.2332-577dup (n.2332-577dup) | |
2 | g.24823208C>A | CA346062445 | ADCY3 | c.2886+1G>T (n.2886+1G>T) c.2883+1G>T (n.2883+1G>T) n.155+1G>T c.1824+1G>T (n.1824+1G>T) c.2952+1G>T (n.2952+1G>T) c.3009+1G>T (n.3009+1G>T) c.3006+1G>T (n.3006+1G>T) c.2943+1G>T (n.2943+1G>T) c.2871+1G>T (n.2871+1G>T) c.2811+1G>T (n.2811+1G>T) c.2343+1G>T (n.2343+1G>T) c.2286+1G>T (n.2286+1G>T) c.2949+1G>T (n.2949+1G>T) c.2940+1G>T (n.2940+1G>T) c.2868+1G>T (n.2868+1G>T) c.2745+1G>T (n.2745+1G>T) c.2373+1G>T (n.2373+1G>T) c.2163+1G>T (n.2163+1G>T) c.2160+1G>T (n.2160+1G>T) c.2332-578G>T (n.2332-578G>T) | gnomAD v4 |
2 | g.24823208C= | CA1239072265 | ADCY3 | c.2886+1G= (n.2886+1G=) c.2883+1G= (n.2883+1G=) n.155+1G= c.1824+1G= (n.1824+1G=) c.2952+1G= (n.2952+1G=) c.3009+1G= (n.3009+1G=) c.3006+1G= (n.3006+1G=) c.2943+1G= (n.2943+1G=) c.2871+1G= (n.2871+1G=) c.2811+1G= (n.2811+1G=) c.2343+1G= (n.2343+1G=) c.2286+1G= (n.2286+1G=) c.2949+1G= (n.2949+1G=) c.2940+1G= (n.2940+1G=) c.2868+1G= (n.2868+1G=) c.2745+1G= (n.2745+1G=) c.2373+1G= (n.2373+1G=) c.2163+1G= (n.2163+1G=) c.2160+1G= (n.2160+1G=) c.2332-578G= (n.2332-578G=) | |
2 | g.24823208C>G | CA346062446 | ADCY3 | c.2886+1G>C (n.2886+1G>C) c.2883+1G>C (n.2883+1G>C) n.155+1G>C c.1824+1G>C (n.1824+1G>C) c.2952+1G>C (n.2952+1G>C) c.3009+1G>C (n.3009+1G>C) c.3006+1G>C (n.3006+1G>C) c.2943+1G>C (n.2943+1G>C) c.2871+1G>C (n.2871+1G>C) c.2811+1G>C (n.2811+1G>C) c.2343+1G>C (n.2343+1G>C) c.2286+1G>C (n.2286+1G>C) c.2949+1G>C (n.2949+1G>C) c.2940+1G>C (n.2940+1G>C) c.2868+1G>C (n.2868+1G>C) c.2745+1G>C (n.2745+1G>C) c.2373+1G>C (n.2373+1G>C) c.2163+1G>C (n.2163+1G>C) c.2160+1G>C (n.2160+1G>C) c.2332-578G>C (n.2332-578G>C) | ClinVar gnomAD v4 |
2 | g.24823208C>T | CA346062448 | ADCY3 | c.2886+1G>A (n.2886+1G>A) c.2883+1G>A (n.2883+1G>A) n.155+1G>A c.1824+1G>A (n.1824+1G>A) c.2952+1G>A (n.2952+1G>A) c.3009+1G>A (n.3009+1G>A) c.3006+1G>A (n.3006+1G>A) c.2943+1G>A (n.2943+1G>A) c.2871+1G>A (n.2871+1G>A) c.2811+1G>A (n.2811+1G>A) c.2343+1G>A (n.2343+1G>A) c.2286+1G>A (n.2286+1G>A) c.2949+1G>A (n.2949+1G>A) c.2940+1G>A (n.2940+1G>A) c.2868+1G>A (n.2868+1G>A) c.2745+1G>A (n.2745+1G>A) c.2373+1G>A (n.2373+1G>A) c.2163+1G>A (n.2163+1G>A) c.2160+1G>A (n.2160+1G>A) c.2332-578G>A (n.2332-578G>A) | dbSNP gnomAD v4 |
2 | g.24823209A>C | CA425171922 | ADCY3 | c.2886T>G (p.Ser962=) c.2883T>G (p.Ser961=) n.155T>G c.1824T>G (p.Ser608=) c.2952T>G (p.Ser984=) c.3009T>G (p.Ser1003=) c.3006T>G (p.Ser1002=) c.2943T>G (p.Ser981=) c.2871T>G (p.Ser957=) c.2811T>G (p.Ser937=) c.2343T>G (p.Ser781=) c.2286T>G (p.Ser762=) c.2949T>G (p.Ser983=) c.2940T>G (p.Ser980=) c.2868T>G (p.Ser956=) c.2745T>G (p.Ser915=) c.2373T>G (p.Ser791=) c.2163T>G (p.Ser721=) c.2160T>G (p.Ser720=) c.2332-579T>G (n.2332-579T>G) | |
2 | g.24823209A>G | CA425171920 | ADCY3 | c.2886T>C (p.Ser962=) c.2883T>C (p.Ser961=) n.155T>C c.1824T>C (p.Ser608=) c.2952T>C (p.Ser984=) c.3009T>C (p.Ser1003=) c.3006T>C (p.Ser1002=) c.2943T>C (p.Ser981=) c.2871T>C (p.Ser957=) c.2811T>C (p.Ser937=) c.2343T>C (p.Ser781=) c.2286T>C (p.Ser762=) c.2949T>C (p.Ser983=) c.2940T>C (p.Ser980=) c.2868T>C (p.Ser956=) c.2745T>C (p.Ser915=) c.2373T>C (p.Ser791=) c.2163T>C (p.Ser721=) c.2160T>C (p.Ser720=) c.2332-579T>C (n.2332-579T>C) | |
2 | g.24823209A>T | CA425171921 | ADCY3 | c.2886T>A (p.Ser962=) c.2883T>A (p.Ser961=) n.155T>A c.1824T>A (p.Ser608=) c.2952T>A (p.Ser984=) c.3009T>A (p.Ser1003=) c.3006T>A (p.Ser1002=) c.2943T>A (p.Ser981=) c.2871T>A (p.Ser957=) c.2811T>A (p.Ser937=) c.2343T>A (p.Ser781=) c.2286T>A (p.Ser762=) c.2949T>A (p.Ser983=) c.2940T>A (p.Ser980=) c.2868T>A (p.Ser956=) c.2745T>A (p.Ser915=) c.2373T>A (p.Ser791=) c.2163T>A (p.Ser721=) c.2160T>A (p.Ser720=) c.2332-579T>A (n.2332-579T>A) | |
2 | g.24823211_24823212del | CA2576692129 | ADCY3 | c.2885_2886del (p.Leu963ProfsTer?) c.2882_2883del (p.Leu962ProfsTer?) n.154_155del c.1823_1824del (p.Leu609ProfsTer?) c.2951_2952del (p.Leu985ProfsTer?) c.3008_3009del (p.Leu1004ProfsTer?) c.3005_3006del (p.Leu1003ProfsTer?) c.2942_2943del (p.Leu982ProfsTer?) c.2870_2871del (p.Leu958ProfsTer?) c.2810_2811del (p.Leu938ProfsTer?) c.2342_2343del (p.Leu782ProfsTer?) c.2285_2286del (p.Leu763ProfsTer?) c.2948_2949del (p.Leu984ProfsTer?) c.2939_2940del (p.Leu981ProfsTer?) c.2867_2868del (p.Leu957ProfsTer?) c.2744_2745del (p.Leu916ProfsTer?) c.2372_2373del (p.Leu792ProfsTer?) c.2162_2163del (p.Leu722ProfsTer?) c.2159_2160del (p.Leu721ProfsTer?) c.2332-580_2332-579del (n.2332-580_2332-579del) | |
2 | g.24823210G>A | CA346062453 | ADCY3 | c.2885C>T (p.Ser962Phe) c.2882C>T (p.Ser961Phe) n.154C>T c.1823C>T (p.Ser608Phe) c.2951C>T (p.Ser984Phe) c.3008C>T (p.Ser1003Phe) c.3005C>T (p.Ser1002Phe) c.2942C>T (p.Ser981Phe) c.2870C>T (p.Ser957Phe) c.2810C>T (p.Ser937Phe) c.2342C>T (p.Ser781Phe) c.2285C>T (p.Ser762Phe) c.2948C>T (p.Ser983Phe) c.2939C>T (p.Ser980Phe) c.2867C>T (p.Ser956Phe) c.2744C>T (p.Ser915Phe) c.2372C>T (p.Ser791Phe) c.2162C>T (p.Ser721Phe) c.2159C>T (p.Ser720Phe) c.2332-580C>T (n.2332-580C>T) | |
2 | g.24823210G>C | CA346062451 | ADCY3 | c.2885C>G (p.Ser962Cys) c.2882C>G (p.Ser961Cys) n.154C>G c.1823C>G (p.Ser608Cys) c.2951C>G (p.Ser984Cys) c.3008C>G (p.Ser1003Cys) c.3005C>G (p.Ser1002Cys) c.2942C>G (p.Ser981Cys) c.2870C>G (p.Ser957Cys) c.2810C>G (p.Ser937Cys) c.2342C>G (p.Ser781Cys) c.2285C>G (p.Ser762Cys) c.2948C>G (p.Ser983Cys) c.2939C>G (p.Ser980Cys) c.2867C>G (p.Ser956Cys) c.2744C>G (p.Ser915Cys) c.2372C>G (p.Ser791Cys) c.2162C>G (p.Ser721Cys) c.2159C>G (p.Ser720Cys) c.2332-580C>G (n.2332-580C>G) | |
2 | g.24823210G>T | CA346062450 | ADCY3 | c.2885C>A (p.Ser962Tyr) c.2882C>A (p.Ser961Tyr) n.154C>A c.1823C>A (p.Ser608Tyr) c.2951C>A (p.Ser984Tyr) c.3008C>A (p.Ser1003Tyr) c.3005C>A (p.Ser1002Tyr) c.2942C>A (p.Ser981Tyr) c.2870C>A (p.Ser957Tyr) c.2810C>A (p.Ser937Tyr) c.2342C>A (p.Ser781Tyr) c.2285C>A (p.Ser762Tyr) c.2948C>A (p.Ser983Tyr) c.2939C>A (p.Ser980Tyr) c.2867C>A (p.Ser956Tyr) c.2744C>A (p.Ser915Tyr) c.2372C>A (p.Ser791Tyr) c.2162C>A (p.Ser721Tyr) c.2159C>A (p.Ser720Tyr) c.2332-580C>A (n.2332-580C>A) | |
2 | g.24823211A>C | CA346062454 | ADCY3 | c.2884T>G (p.Ser962Ala) c.2881T>G (p.Ser961Ala) n.153T>G c.1822T>G (p.Ser608Ala) c.2950T>G (p.Ser984Ala) c.3007T>G (p.Ser1003Ala) c.3004T>G (p.Ser1002Ala) c.2941T>G (p.Ser981Ala) c.2869T>G (p.Ser957Ala) c.2809T>G (p.Ser937Ala) c.2341T>G (p.Ser781Ala) c.2284T>G (p.Ser762Ala) c.2947T>G (p.Ser983Ala) c.2938T>G (p.Ser980Ala) c.2866T>G (p.Ser956Ala) c.2743T>G (p.Ser915Ala) c.2371T>G (p.Ser791Ala) c.2161T>G (p.Ser721Ala) c.2158T>G (p.Ser720Ala) c.2332-581T>G (n.2332-581T>G) | |
2 | g.24823211A>G | CA346062455 | ADCY3 | c.2884T>C (p.Ser962Pro) c.2881T>C (p.Ser961Pro) n.153T>C c.1822T>C (p.Ser608Pro) c.2950T>C (p.Ser984Pro) c.3007T>C (p.Ser1003Pro) c.3004T>C (p.Ser1002Pro) c.2941T>C (p.Ser981Pro) c.2869T>C (p.Ser957Pro) c.2809T>C (p.Ser937Pro) c.2341T>C (p.Ser781Pro) c.2284T>C (p.Ser762Pro) c.2947T>C (p.Ser983Pro) c.2938T>C (p.Ser980Pro) c.2866T>C (p.Ser956Pro) c.2743T>C (p.Ser915Pro) c.2371T>C (p.Ser791Pro) c.2161T>C (p.Ser721Pro) c.2158T>C (p.Ser720Pro) c.2332-581T>C (n.2332-581T>C) | |
2 | g.24823211A>T | CA346062457 | ADCY3 | c.2884T>A (p.Ser962Thr) c.2881T>A (p.Ser961Thr) n.153T>A c.1822T>A (p.Ser608Thr) c.2950T>A (p.Ser984Thr) c.3007T>A (p.Ser1003Thr) c.3004T>A (p.Ser1002Thr) c.2941T>A (p.Ser981Thr) c.2869T>A (p.Ser957Thr) c.2809T>A (p.Ser937Thr) c.2341T>A (p.Ser781Thr) c.2284T>A (p.Ser762Thr) c.2947T>A (p.Ser983Thr) c.2938T>A (p.Ser980Thr) c.2866T>A (p.Ser956Thr) c.2743T>A (p.Ser915Thr) c.2371T>A (p.Ser791Thr) c.2161T>A (p.Ser721Thr) c.2158T>A (p.Ser720Thr) c.2332-581T>A (n.2332-581T>A) | gnomAD v4 |
2 | g.24823212G>A | CA425171924 | ADCY3 | c.2883C>T (p.Asp961=) c.2880C>T (p.Asp960=) n.152C>T c.1821C>T (p.Asp607=) c.2949C>T (p.Asp983=) c.3006C>T (p.Asp1002=) c.3003C>T (p.Asp1001=) c.2940C>T (p.Asp980=) c.2868C>T (p.Asp956=) c.2808C>T (p.Asp936=) c.2340C>T (p.Asp780=) c.2283C>T (p.Asp761=) c.2946C>T (p.Asp982=) c.2937C>T (p.Asp979=) c.2865C>T (p.Asp955=) c.2742C>T (p.Asp914=) c.2370C>T (p.Asp790=) c.2160C>T (p.Asp720=) c.2157C>T (p.Asp719=) c.2332-582C>T (n.2332-582C>T) | |
2 | g.24823212G>C | CA346062458 | ADCY3 | c.2883C>G (p.Asp961Glu) c.2880C>G (p.Asp960Glu) n.152C>G c.1821C>G (p.Asp607Glu) c.2949C>G (p.Asp983Glu) c.3006C>G (p.Asp1002Glu) c.3003C>G (p.Asp1001Glu) c.2940C>G (p.Asp980Glu) c.2868C>G (p.Asp956Glu) c.2808C>G (p.Asp936Glu) c.2340C>G (p.Asp780Glu) c.2283C>G (p.Asp761Glu) c.2946C>G (p.Asp982Glu) c.2937C>G (p.Asp979Glu) c.2865C>G (p.Asp955Glu) c.2742C>G (p.Asp914Glu) c.2370C>G (p.Asp790Glu) c.2160C>G (p.Asp720Glu) c.2157C>G (p.Asp719Glu) c.2332-582C>G (n.2332-582C>G) | |
2 | g.24823212G>T | CA346062460 | ADCY3 | c.2883C>A (p.Asp961Glu) c.2880C>A (p.Asp960Glu) n.152C>A c.1821C>A (p.Asp607Glu) c.2949C>A (p.Asp983Glu) c.3006C>A (p.Asp1002Glu) c.3003C>A (p.Asp1001Glu) c.2940C>A (p.Asp980Glu) c.2868C>A (p.Asp956Glu) c.2808C>A (p.Asp936Glu) c.2340C>A (p.Asp780Glu) c.2283C>A (p.Asp761Glu) c.2946C>A (p.Asp982Glu) c.2937C>A (p.Asp979Glu) c.2865C>A (p.Asp955Glu) c.2742C>A (p.Asp914Glu) c.2370C>A (p.Asp790Glu) c.2160C>A (p.Asp720Glu) c.2157C>A (p.Asp719Glu) c.2332-582C>A (n.2332-582C>A) | |
2 | g.24823213T>A | CA346062461 | ADCY3 | c.2882A>T (p.Asp961Val) c.2879A>T (p.Asp960Val) n.151A>T c.1820A>T (p.Asp607Val) c.2948A>T (p.Asp983Val) c.3005A>T (p.Asp1002Val) c.3002A>T (p.Asp1001Val) c.2939A>T (p.Asp980Val) c.2867A>T (p.Asp956Val) c.2807A>T (p.Asp936Val) c.2339A>T (p.Asp780Val) c.2282A>T (p.Asp761Val) c.2945A>T (p.Asp982Val) c.2936A>T (p.Asp979Val) c.2864A>T (p.Asp955Val) c.2741A>T (p.Asp914Val) c.2369A>T (p.Asp790Val) c.2159A>T (p.Asp720Val) c.2156A>T (p.Asp719Val) c.2332-583A>T (n.2332-583A>T) | |
2 | g.24823213T>C | CA346062463 | ADCY3 | c.2882A>G (p.Asp961Gly) c.2879A>G (p.Asp960Gly) n.151A>G c.1820A>G (p.Asp607Gly) c.2948A>G (p.Asp983Gly) c.3005A>G (p.Asp1002Gly) c.3002A>G (p.Asp1001Gly) c.2939A>G (p.Asp980Gly) c.2867A>G (p.Asp956Gly) c.2807A>G (p.Asp936Gly) c.2339A>G (p.Asp780Gly) c.2282A>G (p.Asp761Gly) c.2945A>G (p.Asp982Gly) c.2936A>G (p.Asp979Gly) c.2864A>G (p.Asp955Gly) c.2741A>G (p.Asp914Gly) c.2369A>G (p.Asp790Gly) c.2159A>G (p.Asp720Gly) c.2156A>G (p.Asp719Gly) c.2332-583A>G (n.2332-583A>G) | |
2 | g.24823213T>G | CA346062464 | ADCY3 | c.2882A>C (p.Asp961Ala) c.2879A>C (p.Asp960Ala) n.151A>C c.1820A>C (p.Asp607Ala) c.2948A>C (p.Asp983Ala) c.3005A>C (p.Asp1002Ala) c.3002A>C (p.Asp1001Ala) c.2939A>C (p.Asp980Ala) c.2867A>C (p.Asp956Ala) c.2807A>C (p.Asp936Ala) c.2339A>C (p.Asp780Ala) c.2282A>C (p.Asp761Ala) c.2945A>C (p.Asp982Ala) c.2936A>C (p.Asp979Ala) c.2864A>C (p.Asp955Ala) c.2741A>C (p.Asp914Ala) c.2369A>C (p.Asp790Ala) c.2159A>C (p.Asp720Ala) c.2156A>C (p.Asp719Ala) c.2332-583A>C (n.2332-583A>C) | |
2 | g.24823214C>A | CA346062466 | ADCY3 | c.2881G>T (p.Asp961Tyr) c.2878G>T (p.Asp960Tyr) n.150G>T c.1819G>T (p.Asp607Tyr) c.2947G>T (p.Asp983Tyr) c.3004G>T (p.Asp1002Tyr) c.3001G>T (p.Asp1001Tyr) c.2938G>T (p.Asp980Tyr) c.2866G>T (p.Asp956Tyr) c.2806G>T (p.Asp936Tyr) c.2338G>T (p.Asp780Tyr) c.2281G>T (p.Asp761Tyr) c.2944G>T (p.Asp982Tyr) c.2935G>T (p.Asp979Tyr) c.2863G>T (p.Asp955Tyr) c.2740G>T (p.Asp914Tyr) c.2368G>T (p.Asp790Tyr) c.2158G>T (p.Asp720Tyr) c.2155G>T (p.Asp719Tyr) c.2332-584G>T (n.2332-584G>T) | gnomAD v4 |
2 | g.24823214C>G | CA346062467 | ADCY3 | c.2881G>C (p.Asp961His) c.2878G>C (p.Asp960His) n.150G>C c.1819G>C (p.Asp607His) c.2947G>C (p.Asp983His) c.3004G>C (p.Asp1002His) c.3001G>C (p.Asp1001His) c.2938G>C (p.Asp980His) c.2866G>C (p.Asp956His) c.2806G>C (p.Asp936His) c.2338G>C (p.Asp780His) c.2281G>C (p.Asp761His) c.2944G>C (p.Asp982His) c.2935G>C (p.Asp979His) c.2863G>C (p.Asp955His) c.2740G>C (p.Asp914His) c.2368G>C (p.Asp790His) c.2158G>C (p.Asp720His) c.2155G>C (p.Asp719His) c.2332-584G>C (n.2332-584G>C) | |
2 | g.24823214C>T | CA346062469 | ADCY3 | c.2881G>A (p.Asp961Asn) c.2878G>A (p.Asp960Asn) n.150G>A c.1819G>A (p.Asp607Asn) c.2947G>A (p.Asp983Asn) c.3004G>A (p.Asp1002Asn) c.3001G>A (p.Asp1001Asn) c.2938G>A (p.Asp980Asn) c.2866G>A (p.Asp956Asn) c.2806G>A (p.Asp936Asn) c.2338G>A (p.Asp780Asn) c.2281G>A (p.Asp761Asn) c.2944G>A (p.Asp982Asn) c.2935G>A (p.Asp979Asn) c.2863G>A (p.Asp955Asn) c.2740G>A (p.Asp914Asn) c.2368G>A (p.Asp790Asn) c.2158G>A (p.Asp720Asn) c.2155G>A (p.Asp719Asn) c.2332-584G>A (n.2332-584G>A) | |
2 | g.24823215A>C | CA346062470 | ADCY3 | c.2880T>G (p.Phe960Leu) c.2877T>G (p.Phe959Leu) n.149T>G c.1818T>G (p.Phe606Leu) c.2946T>G (p.Phe982Leu) c.3003T>G (p.Phe1001Leu) c.3000T>G (p.Phe1000Leu) c.2937T>G (p.Phe979Leu) c.2865T>G (p.Phe955Leu) c.2805T>G (p.Phe935Leu) c.2337T>G (p.Phe779Leu) c.2280T>G (p.Phe760Leu) c.2943T>G (p.Phe981Leu) c.2934T>G (p.Phe978Leu) c.2862T>G (p.Phe954Leu) c.2739T>G (p.Phe913Leu) c.2367T>G (p.Phe789Leu) c.2157T>G (p.Phe719Leu) c.2154T>G (p.Phe718Leu) c.2332-585T>G (n.2332-585T>G) | |
2 | g.24823215A>G | CA425171926 | ADCY3 | c.2880T>C (p.Phe960=) c.2877T>C (p.Phe959=) n.149T>C c.1818T>C (p.Phe606=) c.2946T>C (p.Phe982=) c.3003T>C (p.Phe1001=) c.3000T>C (p.Phe1000=) c.2937T>C (p.Phe979=) c.2865T>C (p.Phe955=) c.2805T>C (p.Phe935=) c.2337T>C (p.Phe779=) c.2280T>C (p.Phe760=) c.2943T>C (p.Phe981=) c.2934T>C (p.Phe978=) c.2862T>C (p.Phe954=) c.2739T>C (p.Phe913=) c.2367T>C (p.Phe789=) c.2157T>C (p.Phe719=) c.2154T>C (p.Phe718=) c.2332-585T>C (n.2332-585T>C) | |
2 | g.24823215A>T | CA346062472 | ADCY3 | c.2880T>A (p.Phe960Leu) c.2877T>A (p.Phe959Leu) n.149T>A c.1818T>A (p.Phe606Leu) c.2946T>A (p.Phe982Leu) c.3003T>A (p.Phe1001Leu) c.3000T>A (p.Phe1000Leu) c.2937T>A (p.Phe979Leu) c.2865T>A (p.Phe955Leu) c.2805T>A (p.Phe935Leu) c.2337T>A (p.Phe779Leu) c.2280T>A (p.Phe760Leu) c.2943T>A (p.Phe981Leu) c.2934T>A (p.Phe978Leu) c.2862T>A (p.Phe954Leu) c.2739T>A (p.Phe913Leu) c.2367T>A (p.Phe789Leu) c.2157T>A (p.Phe719Leu) c.2154T>A (p.Phe718Leu) c.2332-585T>A (n.2332-585T>A) | |
2 | g.24823216A>C | CA346062474 | ADCY3 | c.2879T>G (p.Phe960Cys) c.2876T>G (p.Phe959Cys) n.148T>G c.1817T>G (p.Phe606Cys) c.2945T>G (p.Phe982Cys) c.3002T>G (p.Phe1001Cys) c.2999T>G (p.Phe1000Cys) c.2936T>G (p.Phe979Cys) c.2864T>G (p.Phe955Cys) c.2804T>G (p.Phe935Cys) c.2336T>G (p.Phe779Cys) c.2279T>G (p.Phe760Cys) c.2942T>G (p.Phe981Cys) c.2933T>G (p.Phe978Cys) c.2861T>G (p.Phe954Cys) c.2738T>G (p.Phe913Cys) c.2366T>G (p.Phe789Cys) c.2156T>G (p.Phe719Cys) c.2153T>G (p.Phe718Cys) c.2332-586T>G (n.2332-586T>G) | |
2 | g.24823216A>G | CA346062475 | ADCY3 | c.2879T>C (p.Phe960Ser) c.2876T>C (p.Phe959Ser) n.148T>C c.1817T>C (p.Phe606Ser) c.2945T>C (p.Phe982Ser) c.3002T>C (p.Phe1001Ser) c.2999T>C (p.Phe1000Ser) c.2936T>C (p.Phe979Ser) c.2864T>C (p.Phe955Ser) c.2804T>C (p.Phe935Ser) c.2336T>C (p.Phe779Ser) c.2279T>C (p.Phe760Ser) c.2942T>C (p.Phe981Ser) c.2933T>C (p.Phe978Ser) c.2861T>C (p.Phe954Ser) c.2738T>C (p.Phe913Ser) c.2366T>C (p.Phe789Ser) c.2156T>C (p.Phe719Ser) c.2153T>C (p.Phe718Ser) c.2332-586T>C (n.2332-586T>C) | |
2 | g.24823216A>T | CA346062473 | ADCY3 | c.2879T>A (p.Phe960Tyr) c.2876T>A (p.Phe959Tyr) n.148T>A c.1817T>A (p.Phe606Tyr) c.2945T>A (p.Phe982Tyr) c.3002T>A (p.Phe1001Tyr) c.2999T>A (p.Phe1000Tyr) c.2936T>A (p.Phe979Tyr) c.2864T>A (p.Phe955Tyr) c.2804T>A (p.Phe935Tyr) c.2336T>A (p.Phe779Tyr) c.2279T>A (p.Phe760Tyr) c.2942T>A (p.Phe981Tyr) c.2933T>A (p.Phe978Tyr) c.2861T>A (p.Phe954Tyr) c.2738T>A (p.Phe913Tyr) c.2366T>A (p.Phe789Tyr) c.2156T>A (p.Phe719Tyr) c.2153T>A (p.Phe718Tyr) c.2332-586T>A (n.2332-586T>A) | |
2 | g.24823217A>C | CA346062477 | ADCY3 | c.2878T>G (p.Phe960Val) c.2875T>G (p.Phe959Val) n.147T>G c.1816T>G (p.Phe606Val) c.2944T>G (p.Phe982Val) c.3001T>G (p.Phe1001Val) c.2998T>G (p.Phe1000Val) c.2935T>G (p.Phe979Val) c.2863T>G (p.Phe955Val) c.2803T>G (p.Phe935Val) c.2335T>G (p.Phe779Val) c.2278T>G (p.Phe760Val) c.2941T>G (p.Phe981Val) c.2932T>G (p.Phe978Val) c.2860T>G (p.Phe954Val) c.2737T>G (p.Phe913Val) c.2365T>G (p.Phe789Val) c.2155T>G (p.Phe719Val) c.2152T>G (p.Phe718Val) c.2332-587T>G (n.2332-587T>G) | |
2 | g.24823217A>G | CA346062478 | ADCY3 | c.2878T>C (p.Phe960Leu) c.2875T>C (p.Phe959Leu) n.147T>C c.1816T>C (p.Phe606Leu) c.2944T>C (p.Phe982Leu) c.3001T>C (p.Phe1001Leu) c.2998T>C (p.Phe1000Leu) c.2935T>C (p.Phe979Leu) c.2863T>C (p.Phe955Leu) c.2803T>C (p.Phe935Leu) c.2335T>C (p.Phe779Leu) c.2278T>C (p.Phe760Leu) c.2941T>C (p.Phe981Leu) c.2932T>C (p.Phe978Leu) c.2860T>C (p.Phe954Leu) c.2737T>C (p.Phe913Leu) c.2365T>C (p.Phe789Leu) c.2155T>C (p.Phe719Leu) c.2152T>C (p.Phe718Leu) c.2332-587T>C (n.2332-587T>C) | |
2 | g.24823217A>T | CA346062479 | ADCY3 | c.2878T>A (p.Phe960Ile) c.2875T>A (p.Phe959Ile) n.147T>A c.1816T>A (p.Phe606Ile) c.2944T>A (p.Phe982Ile) c.3001T>A (p.Phe1001Ile) c.2998T>A (p.Phe1000Ile) c.2935T>A (p.Phe979Ile) c.2863T>A (p.Phe955Ile) c.2803T>A (p.Phe935Ile) c.2335T>A (p.Phe779Ile) c.2278T>A (p.Phe760Ile) c.2941T>A (p.Phe981Ile) c.2932T>A (p.Phe978Ile) c.2860T>A (p.Phe954Ile) c.2737T>A (p.Phe913Ile) c.2365T>A (p.Phe789Ile) c.2155T>A (p.Phe719Ile) c.2152T>A (p.Phe718Ile) c.2332-587T>A (n.2332-587T>A) | |
2 | g.24823218A>C | CA346062481 | ADCY3 | c.2877T>G (p.Asp959Glu) c.2874T>G (p.Asp958Glu) n.146T>G c.1815T>G (p.Asp605Glu) c.2943T>G (p.Asp981Glu) c.3000T>G (p.Asp1000Glu) c.2997T>G (p.Asp999Glu) c.2934T>G (p.Asp978Glu) c.2862T>G (p.Asp954Glu) c.2802T>G (p.Asp934Glu) c.2334T>G (p.Asp778Glu) c.2277T>G (p.Asp759Glu) c.2940T>G (p.Asp980Glu) c.2931T>G (p.Asp977Glu) c.2859T>G (p.Asp953Glu) c.2736T>G (p.Asp912Glu) c.2364T>G (p.Asp788Glu) c.2154T>G (p.Asp718Glu) c.2151T>G (p.Asp717Glu) c.2332-588T>G (n.2332-588T>G) | |
2 | g.24823218A>G | CA425171930 | ADCY3 | c.2877T>C (p.Asp959=) c.2874T>C (p.Asp958=) n.146T>C c.1815T>C (p.Asp605=) c.2943T>C (p.Asp981=) c.3000T>C (p.Asp1000=) c.2997T>C (p.Asp999=) c.2934T>C (p.Asp978=) c.2862T>C (p.Asp954=) c.2802T>C (p.Asp934=) c.2334T>C (p.Asp778=) c.2277T>C (p.Asp759=) c.2940T>C (p.Asp980=) c.2931T>C (p.Asp977=) c.2859T>C (p.Asp953=) c.2736T>C (p.Asp912=) c.2364T>C (p.Asp788=) c.2154T>C (p.Asp718=) c.2151T>C (p.Asp717=) c.2332-588T>C (n.2332-588T>C) | |
2 | g.24823218A>T | CA346062482 | ADCY3 | c.2877T>A (p.Asp959Glu) c.2874T>A (p.Asp958Glu) n.146T>A c.1815T>A (p.Asp605Glu) c.2943T>A (p.Asp981Glu) c.3000T>A (p.Asp1000Glu) c.2997T>A (p.Asp999Glu) c.2934T>A (p.Asp978Glu) c.2862T>A (p.Asp954Glu) c.2802T>A (p.Asp934Glu) c.2334T>A (p.Asp778Glu) c.2277T>A (p.Asp759Glu) c.2940T>A (p.Asp980Glu) c.2931T>A (p.Asp977Glu) c.2859T>A (p.Asp953Glu) c.2736T>A (p.Asp912Glu) c.2364T>A (p.Asp788Glu) c.2154T>A (p.Asp718Glu) c.2151T>A (p.Asp717Glu) c.2332-588T>A (n.2332-588T>A) | |
2 | g.24823219T>A | CA346062484 | ADCY3 | c.2876A>T (p.Asp959Val) c.2873A>T (p.Asp958Val) n.145A>T c.1814A>T (p.Asp605Val) c.2942A>T (p.Asp981Val) c.2999A>T (p.Asp1000Val) c.2996A>T (p.Asp999Val) c.2933A>T (p.Asp978Val) c.2861A>T (p.Asp954Val) c.2801A>T (p.Asp934Val) c.2333A>T (p.Asp778Val) c.2276A>T (p.Asp759Val) c.2939A>T (p.Asp980Val) c.2930A>T (p.Asp977Val) c.2858A>T (p.Asp953Val) c.2735A>T (p.Asp912Val) c.2363A>T (p.Asp788Val) c.2153A>T (p.Asp718Val) c.2150A>T (p.Asp717Val) c.2332-589A>T (n.2332-589A>T) | |
2 | g.24823219T>C | CA346062485 | ADCY3 | c.2876A>G (p.Asp959Gly) c.2873A>G (p.Asp958Gly) n.145A>G c.1814A>G (p.Asp605Gly) c.2942A>G (p.Asp981Gly) c.2999A>G (p.Asp1000Gly) c.2996A>G (p.Asp999Gly) c.2933A>G (p.Asp978Gly) c.2861A>G (p.Asp954Gly) c.2801A>G (p.Asp934Gly) c.2333A>G (p.Asp778Gly) c.2276A>G (p.Asp759Gly) c.2939A>G (p.Asp980Gly) c.2930A>G (p.Asp977Gly) c.2858A>G (p.Asp953Gly) c.2735A>G (p.Asp912Gly) c.2363A>G (p.Asp788Gly) c.2153A>G (p.Asp718Gly) c.2150A>G (p.Asp717Gly) c.2332-589A>G (n.2332-589A>G) | |
2 | g.24823219T>G | CA346062487 | ADCY3 | c.2876A>C (p.Asp959Ala) c.2873A>C (p.Asp958Ala) n.145A>C c.1814A>C (p.Asp605Ala) c.2942A>C (p.Asp981Ala) c.2999A>C (p.Asp1000Ala) c.2996A>C (p.Asp999Ala) c.2933A>C (p.Asp978Ala) c.2861A>C (p.Asp954Ala) c.2801A>C (p.Asp934Ala) c.2333A>C (p.Asp778Ala) c.2276A>C (p.Asp759Ala) c.2939A>C (p.Asp980Ala) c.2930A>C (p.Asp977Ala) c.2858A>C (p.Asp953Ala) c.2735A>C (p.Asp912Ala) c.2363A>C (p.Asp788Ala) c.2153A>C (p.Asp718Ala) c.2150A>C (p.Asp717Ala) c.2332-589A>C (n.2332-589A>C) | |
2 | g.24823220C>A | CA346062488 | ADCY3 | c.2875G>T (p.Asp959Tyr) c.2872G>T (p.Asp958Tyr) n.144G>T c.1813G>T (p.Asp605Tyr) c.2941G>T (p.Asp981Tyr) c.2998G>T (p.Asp1000Tyr) c.2995G>T (p.Asp999Tyr) c.2932G>T (p.Asp978Tyr) c.2860G>T (p.Asp954Tyr) c.2800G>T (p.Asp934Tyr) c.2332G>T (p.Asp778Tyr) c.2275G>T (p.Asp759Tyr) c.2938G>T (p.Asp980Tyr) c.2929G>T (p.Asp977Tyr) c.2857G>T (p.Asp953Tyr) c.2734G>T (p.Asp912Tyr) c.2362G>T (p.Asp788Tyr) c.2152G>T (p.Asp718Tyr) c.2149G>T (p.Asp717Tyr) c.2332-590G>T (n.2332-590G>T) | |
2 | g.24823220C>G | CA346062489 | ADCY3 | c.2875G>C (p.Asp959His) c.2872G>C (p.Asp958His) n.144G>C c.1813G>C (p.Asp605His) c.2941G>C (p.Asp981His) c.2998G>C (p.Asp1000His) c.2995G>C (p.Asp999His) c.2932G>C (p.Asp978His) c.2860G>C (p.Asp954His) c.2800G>C (p.Asp934His) c.2332G>C (p.Asp778His) c.2275G>C (p.Asp759His) c.2938G>C (p.Asp980His) c.2929G>C (p.Asp977His) c.2857G>C (p.Asp953His) c.2734G>C (p.Asp912His) c.2362G>C (p.Asp788His) c.2152G>C (p.Asp718His) c.2149G>C (p.Asp717His) c.2332-590G>C (n.2332-590G>C) | |
2 | g.24823220C>T | CA346062490 | ADCY3 | c.2875G>A (p.Asp959Asn) c.2872G>A (p.Asp958Asn) n.144G>A c.1813G>A (p.Asp605Asn) c.2941G>A (p.Asp981Asn) c.2998G>A (p.Asp1000Asn) c.2995G>A (p.Asp999Asn) c.2932G>A (p.Asp978Asn) c.2860G>A (p.Asp954Asn) c.2800G>A (p.Asp934Asn) c.2332G>A (p.Asp778Asn) c.2275G>A (p.Asp759Asn) c.2938G>A (p.Asp980Asn) c.2929G>A (p.Asp977Asn) c.2857G>A (p.Asp953Asn) c.2734G>A (p.Asp912Asn) c.2362G>A (p.Asp788Asn) c.2152G>A (p.Asp718Asn) c.2149G>A (p.Asp717Asn) c.2332-590G>A (n.2332-590G>A) | |
2 | g.24823221T>A | CA425171932 | ADCY3 | c.2874A>T (p.Ser958=) c.2871A>T (p.Ser957=) n.143A>T c.1812A>T (p.Ser604=) c.2940A>T (p.Ser980=) c.2997A>T (p.Ser999=) c.2994A>T (p.Ser998=) c.2931A>T (p.Ser977=) c.2859A>T (p.Ser953=) c.2799A>T (p.Ser933=) c.2331A>T (p.Ser777=) c.2274A>T (p.Ser758=) c.2937A>T (p.Ser979=) c.2928A>T (p.Ser976=) c.2856A>T (p.Ser952=) c.2733A>T (p.Ser911=) c.2361A>T (p.Ser787=) c.2151A>T (p.Ser717=) c.2148A>T (p.Ser716=) c.2332-591A>T (n.2332-591A>T) | dbSNP gnomAD v4 |
2 | g.24823221T>C | CA1553598 | ADCY3 | c.2874A>G (p.Ser958=) c.2871A>G (p.Ser957=) n.143A>G c.1812A>G (p.Ser604=) c.2940A>G (p.Ser980=) c.2997A>G (p.Ser999=) c.2994A>G (p.Ser998=) c.2931A>G (p.Ser977=) c.2859A>G (p.Ser953=) c.2799A>G (p.Ser933=) c.2331A>G (p.Ser777=) c.2274A>G (p.Ser758=) c.2937A>G (p.Ser979=) c.2928A>G (p.Ser976=) c.2856A>G (p.Ser952=) c.2733A>G (p.Ser911=) c.2361A>G (p.Ser787=) c.2151A>G (p.Ser717=) c.2148A>G (p.Ser716=) c.2332-591A>G (n.2332-591A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823221T>G | CA425171934 | ADCY3 | c.2874A>C (p.Ser958=) c.2871A>C (p.Ser957=) n.143A>C c.1812A>C (p.Ser604=) c.2940A>C (p.Ser980=) c.2997A>C (p.Ser999=) c.2994A>C (p.Ser998=) c.2931A>C (p.Ser977=) c.2859A>C (p.Ser953=) c.2799A>C (p.Ser933=) c.2331A>C (p.Ser777=) c.2274A>C (p.Ser758=) c.2937A>C (p.Ser979=) c.2928A>C (p.Ser976=) c.2856A>C (p.Ser952=) c.2733A>C (p.Ser911=) c.2361A>C (p.Ser787=) c.2151A>C (p.Ser717=) c.2148A>C (p.Ser716=) c.2332-591A>C (n.2332-591A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823221T= | CA1239072266 | ADCY3 | c.2874A= (p.Ser958=) c.2871A= (p.Ser957=) n.143A= c.1812A= (p.Ser604=) c.2940A= (p.Ser980=) c.2997A= (p.Ser999=) c.2994A= (p.Ser998=) c.2931A= (p.Ser977=) c.2859A= (p.Ser953=) c.2799A= (p.Ser933=) c.2331A= (p.Ser777=) c.2274A= (p.Ser758=) c.2937A= (p.Ser979=) c.2928A= (p.Ser976=) c.2856A= (p.Ser952=) c.2733A= (p.Ser911=) c.2361A= (p.Ser787=) c.2151A= (p.Ser717=) c.2148A= (p.Ser716=) c.2332-591A= (n.2332-591A=) | |
2 | g.24823222G>A | CA1553599 | ADCY3 | c.2873C>T (p.Ser958Leu) c.2870C>T (p.Ser957Leu) n.142C>T c.1811C>T (p.Ser604Leu) c.2939C>T (p.Ser980Leu) c.2996C>T (p.Ser999Leu) c.2993C>T (p.Ser998Leu) c.2930C>T (p.Ser977Leu) c.2858C>T (p.Ser953Leu) c.2798C>T (p.Ser933Leu) c.2330C>T (p.Ser777Leu) c.2273C>T (p.Ser758Leu) c.2936C>T (p.Ser979Leu) c.2927C>T (p.Ser976Leu) c.2855C>T (p.Ser952Leu) c.2732C>T (p.Ser911Leu) c.2360C>T (p.Ser787Leu) c.2150C>T (p.Ser717Leu) c.2147C>T (p.Ser716Leu) c.2332-592C>T (n.2332-592C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823222G>C | CA346062492 | ADCY3 | c.2873C>G (p.Ser958Ter) c.2870C>G (p.Ser957Ter) n.142C>G c.1811C>G (p.Ser604Ter) c.2939C>G (p.Ser980Ter) c.2996C>G (p.Ser999Ter) c.2993C>G (p.Ser998Ter) c.2930C>G (p.Ser977Ter) c.2858C>G (p.Ser953Ter) c.2798C>G (p.Ser933Ter) c.2330C>G (p.Ser777Ter) c.2273C>G (p.Ser758Ter) c.2936C>G (p.Ser979Ter) c.2927C>G (p.Ser976Ter) c.2855C>G (p.Ser952Ter) c.2732C>G (p.Ser911Ter) c.2360C>G (p.Ser787Ter) c.2150C>G (p.Ser717Ter) c.2147C>G (p.Ser716Ter) c.2332-592C>G (n.2332-592C>G) | |
2 | g.24823222G= | CA1239072267 | ADCY3 | c.2873C= (p.Ser958=) c.2870C= (p.Ser957=) n.142C= c.1811C= (p.Ser604=) c.2939C= (p.Ser980=) c.2996C= (p.Ser999=) c.2993C= (p.Ser998=) c.2930C= (p.Ser977=) c.2858C= (p.Ser953=) c.2798C= (p.Ser933=) c.2330C= (p.Ser777=) c.2273C= (p.Ser758=) c.2936C= (p.Ser979=) c.2927C= (p.Ser976=) c.2855C= (p.Ser952=) c.2732C= (p.Ser911=) c.2360C= (p.Ser787=) c.2150C= (p.Ser717=) c.2147C= (p.Ser716=) c.2332-592C= (n.2332-592C=) | |
2 | g.24823222G>T | CA346062494 | ADCY3 | c.2873C>A (p.Ser958Ter) c.2870C>A (p.Ser957Ter) n.142C>A c.1811C>A (p.Ser604Ter) c.2939C>A (p.Ser980Ter) c.2996C>A (p.Ser999Ter) c.2993C>A (p.Ser998Ter) c.2930C>A (p.Ser977Ter) c.2858C>A (p.Ser953Ter) c.2798C>A (p.Ser933Ter) c.2330C>A (p.Ser777Ter) c.2273C>A (p.Ser758Ter) c.2936C>A (p.Ser979Ter) c.2927C>A (p.Ser976Ter) c.2855C>A (p.Ser952Ter) c.2732C>A (p.Ser911Ter) c.2360C>A (p.Ser787Ter) c.2150C>A (p.Ser717Ter) c.2147C>A (p.Ser716Ter) c.2332-592C>A (n.2332-592C>A) | |
2 | g.24823223A>C | CA346062496 | ADCY3 | c.2872T>G (p.Ser958Ala) c.2869T>G (p.Ser957Ala) n.141T>G c.1810T>G (p.Ser604Ala) c.2938T>G (p.Ser980Ala) c.2995T>G (p.Ser999Ala) c.2992T>G (p.Ser998Ala) c.2929T>G (p.Ser977Ala) c.2857T>G (p.Ser953Ala) c.2797T>G (p.Ser933Ala) c.2329T>G (p.Ser777Ala) c.2272T>G (p.Ser758Ala) c.2935T>G (p.Ser979Ala) c.2926T>G (p.Ser976Ala) c.2854T>G (p.Ser952Ala) c.2731T>G (p.Ser911Ala) c.2359T>G (p.Ser787Ala) c.2149T>G (p.Ser717Ala) c.2146T>G (p.Ser716Ala) c.2332-593T>G (n.2332-593T>G) | |
2 | g.24823223A>G | CA346062497 | ADCY3 | c.2872T>C (p.Ser958Pro) c.2869T>C (p.Ser957Pro) n.141T>C c.1810T>C (p.Ser604Pro) c.2938T>C (p.Ser980Pro) c.2995T>C (p.Ser999Pro) c.2992T>C (p.Ser998Pro) c.2929T>C (p.Ser977Pro) c.2857T>C (p.Ser953Pro) c.2797T>C (p.Ser933Pro) c.2329T>C (p.Ser777Pro) c.2272T>C (p.Ser758Pro) c.2935T>C (p.Ser979Pro) c.2926T>C (p.Ser976Pro) c.2854T>C (p.Ser952Pro) c.2731T>C (p.Ser911Pro) c.2359T>C (p.Ser787Pro) c.2149T>C (p.Ser717Pro) c.2146T>C (p.Ser716Pro) c.2332-593T>C (n.2332-593T>C) | |
2 | g.24823223A>T | CA346062499 | ADCY3 | c.2872T>A (p.Ser958Thr) c.2869T>A (p.Ser957Thr) n.141T>A c.1810T>A (p.Ser604Thr) c.2938T>A (p.Ser980Thr) c.2995T>A (p.Ser999Thr) c.2992T>A (p.Ser998Thr) c.2929T>A (p.Ser977Thr) c.2857T>A (p.Ser953Thr) c.2797T>A (p.Ser933Thr) c.2329T>A (p.Ser777Thr) c.2272T>A (p.Ser758Thr) c.2935T>A (p.Ser979Thr) c.2926T>A (p.Ser976Thr) c.2854T>A (p.Ser952Thr) c.2731T>A (p.Ser911Thr) c.2359T>A (p.Ser787Thr) c.2149T>A (p.Ser717Thr) c.2146T>A (p.Ser716Thr) c.2332-593T>A (n.2332-593T>A) | |
2 | g.24823224G>A | CA1553600 | ADCY3 | c.2871C>T (p.Ile957=) c.2868C>T (p.Ile956=) n.140C>T c.1809C>T (p.Ile603=) c.2937C>T (p.Ile979=) c.2994C>T (p.Ile998=) c.2991C>T (p.Ile997=) c.2928C>T (p.Ile976=) c.2856C>T (p.Ile952=) c.2796C>T (p.Ile932=) c.2328C>T (p.Ile776=) c.2271C>T (p.Ile757=) c.2934C>T (p.Ile978=) c.2925C>T (p.Ile975=) c.2853C>T (p.Ile951=) c.2730C>T (p.Ile910=) c.2358C>T (p.Ile786=) c.2148C>T (p.Ile716=) c.2145C>T (p.Ile715=) c.2332-594C>T (n.2332-594C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823224G>C | CA346062501 | ADCY3 | c.2871C>G (p.Ile957Met) c.2868C>G (p.Ile956Met) n.140C>G c.1809C>G (p.Ile603Met) c.2937C>G (p.Ile979Met) c.2994C>G (p.Ile998Met) c.2991C>G (p.Ile997Met) c.2928C>G (p.Ile976Met) c.2856C>G (p.Ile952Met) c.2796C>G (p.Ile932Met) c.2328C>G (p.Ile776Met) c.2271C>G (p.Ile757Met) c.2934C>G (p.Ile978Met) c.2925C>G (p.Ile975Met) c.2853C>G (p.Ile951Met) c.2730C>G (p.Ile910Met) c.2358C>G (p.Ile786Met) c.2148C>G (p.Ile716Met) c.2145C>G (p.Ile715Met) c.2332-594C>G (n.2332-594C>G) | |
2 | g.24823224G= | CA1239072268 | ADCY3 | c.2871C= (p.Ile957=) c.2868C= (p.Ile956=) n.140C= c.1809C= (p.Ile603=) c.2937C= (p.Ile979=) c.2994C= (p.Ile998=) c.2991C= (p.Ile997=) c.2928C= (p.Ile976=) c.2856C= (p.Ile952=) c.2796C= (p.Ile932=) c.2328C= (p.Ile776=) c.2271C= (p.Ile757=) c.2934C= (p.Ile978=) c.2925C= (p.Ile975=) c.2853C= (p.Ile951=) c.2730C= (p.Ile910=) c.2358C= (p.Ile786=) c.2148C= (p.Ile716=) c.2145C= (p.Ile715=) c.2332-594C= (n.2332-594C=) | |
2 | g.24823224G>T | CA425171939 | ADCY3 | c.2871C>A (p.Ile957=) c.2868C>A (p.Ile956=) n.140C>A c.1809C>A (p.Ile603=) c.2937C>A (p.Ile979=) c.2994C>A (p.Ile998=) c.2991C>A (p.Ile997=) c.2928C>A (p.Ile976=) c.2856C>A (p.Ile952=) c.2796C>A (p.Ile932=) c.2328C>A (p.Ile776=) c.2271C>A (p.Ile757=) c.2934C>A (p.Ile978=) c.2925C>A (p.Ile975=) c.2853C>A (p.Ile951=) c.2730C>A (p.Ile910=) c.2358C>A (p.Ile786=) c.2148C>A (p.Ile716=) c.2145C>A (p.Ile715=) c.2332-594C>A (n.2332-594C>A) | |
2 | g.24823225A>C | CA346062502 | ADCY3 | c.2870T>G (p.Ile957Ser) c.2867T>G (p.Ile956Ser) n.139T>G c.1808T>G (p.Ile603Ser) c.2936T>G (p.Ile979Ser) c.2993T>G (p.Ile998Ser) c.2990T>G (p.Ile997Ser) c.2927T>G (p.Ile976Ser) c.2855T>G (p.Ile952Ser) c.2795T>G (p.Ile932Ser) c.2327T>G (p.Ile776Ser) c.2270T>G (p.Ile757Ser) c.2933T>G (p.Ile978Ser) c.2924T>G (p.Ile975Ser) c.2852T>G (p.Ile951Ser) c.2729T>G (p.Ile910Ser) c.2357T>G (p.Ile786Ser) c.2147T>G (p.Ile716Ser) c.2144T>G (p.Ile715Ser) c.2332-595T>G (n.2332-595T>G) | |
2 | g.24823225A>G | CA346062503 | ADCY3 | c.2870T>C (p.Ile957Thr) c.2867T>C (p.Ile956Thr) n.139T>C c.1808T>C (p.Ile603Thr) c.2936T>C (p.Ile979Thr) c.2993T>C (p.Ile998Thr) c.2990T>C (p.Ile997Thr) c.2927T>C (p.Ile976Thr) c.2855T>C (p.Ile952Thr) c.2795T>C (p.Ile932Thr) c.2327T>C (p.Ile776Thr) c.2270T>C (p.Ile757Thr) c.2933T>C (p.Ile978Thr) c.2924T>C (p.Ile975Thr) c.2852T>C (p.Ile951Thr) c.2729T>C (p.Ile910Thr) c.2357T>C (p.Ile786Thr) c.2147T>C (p.Ile716Thr) c.2144T>C (p.Ile715Thr) c.2332-595T>C (n.2332-595T>C) | |
2 | g.24823225A>T | CA346062504 | ADCY3 | c.2870T>A (p.Ile957Asn) c.2867T>A (p.Ile956Asn) n.139T>A c.1808T>A (p.Ile603Asn) c.2936T>A (p.Ile979Asn) c.2993T>A (p.Ile998Asn) c.2990T>A (p.Ile997Asn) c.2927T>A (p.Ile976Asn) c.2855T>A (p.Ile952Asn) c.2795T>A (p.Ile932Asn) c.2327T>A (p.Ile776Asn) c.2270T>A (p.Ile757Asn) c.2933T>A (p.Ile978Asn) c.2924T>A (p.Ile975Asn) c.2852T>A (p.Ile951Asn) c.2729T>A (p.Ile910Asn) c.2357T>A (p.Ile786Asn) c.2147T>A (p.Ile716Asn) c.2144T>A (p.Ile715Asn) c.2332-595T>A (n.2332-595T>A) | |
2 | g.24823226T>A | CA346062505 | ADCY3 | c.2869A>T (p.Ile957Phe) c.2866A>T (p.Ile956Phe) n.138A>T c.1807A>T (p.Ile603Phe) c.2935A>T (p.Ile979Phe) c.2992A>T (p.Ile998Phe) c.2989A>T (p.Ile997Phe) c.2926A>T (p.Ile976Phe) c.2854A>T (p.Ile952Phe) c.2794A>T (p.Ile932Phe) c.2326A>T (p.Ile776Phe) c.2269A>T (p.Ile757Phe) c.2932A>T (p.Ile978Phe) c.2923A>T (p.Ile975Phe) c.2851A>T (p.Ile951Phe) c.2728A>T (p.Ile910Phe) c.2356A>T (p.Ile786Phe) c.2146A>T (p.Ile716Phe) c.2143A>T (p.Ile715Phe) c.2332-596A>T (n.2332-596A>T) | |
2 | g.24823226T>C | CA346062506 | ADCY3 | c.2869A>G (p.Ile957Val) c.2866A>G (p.Ile956Val) n.138A>G c.1807A>G (p.Ile603Val) c.2935A>G (p.Ile979Val) c.2992A>G (p.Ile998Val) c.2989A>G (p.Ile997Val) c.2926A>G (p.Ile976Val) c.2854A>G (p.Ile952Val) c.2794A>G (p.Ile932Val) c.2326A>G (p.Ile776Val) c.2269A>G (p.Ile757Val) c.2932A>G (p.Ile978Val) c.2923A>G (p.Ile975Val) c.2851A>G (p.Ile951Val) c.2728A>G (p.Ile910Val) c.2356A>G (p.Ile786Val) c.2146A>G (p.Ile716Val) c.2143A>G (p.Ile715Val) c.2332-596A>G (n.2332-596A>G) | dbSNP gnomAD v2 |
2 | g.24823226T>G | CA346062507 | ADCY3 | c.2869A>C (p.Ile957Leu) c.2866A>C (p.Ile956Leu) n.138A>C c.1807A>C (p.Ile603Leu) c.2935A>C (p.Ile979Leu) c.2992A>C (p.Ile998Leu) c.2989A>C (p.Ile997Leu) c.2926A>C (p.Ile976Leu) c.2854A>C (p.Ile952Leu) c.2794A>C (p.Ile932Leu) c.2326A>C (p.Ile776Leu) c.2269A>C (p.Ile757Leu) c.2932A>C (p.Ile978Leu) c.2923A>C (p.Ile975Leu) c.2851A>C (p.Ile951Leu) c.2728A>C (p.Ile910Leu) c.2356A>C (p.Ile786Leu) c.2146A>C (p.Ile716Leu) c.2143A>C (p.Ile715Leu) c.2332-596A>C (n.2332-596A>C) | |
2 | g.24823226T= | CA1239072269 | ADCY3 | c.2869A= (p.Ile957=) c.2866A= (p.Ile956=) n.138A= c.1807A= (p.Ile603=) c.2935A= (p.Ile979=) c.2992A= (p.Ile998=) c.2989A= (p.Ile997=) c.2926A= (p.Ile976=) c.2854A= (p.Ile952=) c.2794A= (p.Ile932=) c.2326A= (p.Ile776=) c.2269A= (p.Ile757=) c.2932A= (p.Ile978=) c.2923A= (p.Ile975=) c.2851A= (p.Ile951=) c.2728A= (p.Ile910=) c.2356A= (p.Ile786=) c.2146A= (p.Ile716=) c.2143A= (p.Ile715=) c.2332-596A= (n.2332-596A=) | |
2 | g.24823227G>A | CA425171940 | ADCY3 | c.2868C>T (p.Ile956=) c.2865C>T (p.Ile955=) n.137C>T c.1806C>T (p.Ile602=) c.2934C>T (p.Ile978=) c.2991C>T (p.Ile997=) c.2988C>T (p.Ile996=) c.2925C>T (p.Ile975=) c.2853C>T (p.Ile951=) c.2793C>T (p.Ile931=) c.2325C>T (p.Ile775=) c.2268C>T (p.Ile756=) c.2931C>T (p.Ile977=) c.2922C>T (p.Ile974=) c.2850C>T (p.Ile950=) c.2727C>T (p.Ile909=) c.2355C>T (p.Ile785=) c.2145C>T (p.Ile715=) c.2142C>T (p.Ile714=) c.2332-597C>T (n.2332-597C>T) | gnomAD v4 |
2 | g.24823227G>C | CA346062508 | ADCY3 | c.2868C>G (p.Ile956Met) c.2865C>G (p.Ile955Met) n.137C>G c.1806C>G (p.Ile602Met) c.2934C>G (p.Ile978Met) c.2991C>G (p.Ile997Met) c.2988C>G (p.Ile996Met) c.2925C>G (p.Ile975Met) c.2853C>G (p.Ile951Met) c.2793C>G (p.Ile931Met) c.2325C>G (p.Ile775Met) c.2268C>G (p.Ile756Met) c.2931C>G (p.Ile977Met) c.2922C>G (p.Ile974Met) c.2850C>G (p.Ile950Met) c.2727C>G (p.Ile909Met) c.2355C>G (p.Ile785Met) c.2145C>G (p.Ile715Met) c.2142C>G (p.Ile714Met) c.2332-597C>G (n.2332-597C>G) | |
2 | g.24823227G= | CA1239072270 | ADCY3 | c.2868C= (p.Ile956=) c.2865C= (p.Ile955=) n.137C= c.1806C= (p.Ile602=) c.2934C= (p.Ile978=) c.2991C= (p.Ile997=) c.2988C= (p.Ile996=) c.2925C= (p.Ile975=) c.2853C= (p.Ile951=) c.2793C= (p.Ile931=) c.2325C= (p.Ile775=) c.2268C= (p.Ile756=) c.2931C= (p.Ile977=) c.2922C= (p.Ile974=) c.2850C= (p.Ile950=) c.2727C= (p.Ile909=) c.2355C= (p.Ile785=) c.2145C= (p.Ile715=) c.2142C= (p.Ile714=) c.2332-597C= (n.2332-597C=) | |
2 | g.24823227G>T | CA43682412 | ADCY3 | c.2868C>A (p.Ile956=) c.2865C>A (p.Ile955=) n.137C>A c.1806C>A (p.Ile602=) c.2934C>A (p.Ile978=) c.2991C>A (p.Ile997=) c.2988C>A (p.Ile996=) c.2925C>A (p.Ile975=) c.2853C>A (p.Ile951=) c.2793C>A (p.Ile931=) c.2325C>A (p.Ile775=) c.2268C>A (p.Ile756=) c.2931C>A (p.Ile977=) c.2922C>A (p.Ile974=) c.2850C>A (p.Ile950=) c.2727C>A (p.Ile909=) c.2355C>A (p.Ile785=) c.2145C>A (p.Ile715=) c.2142C>A (p.Ile714=) c.2332-597C>A (n.2332-597C>A) | dbSNP COSMIC |
2 | g.24823228A>C | CA346062511 | ADCY3 | c.2867T>G (p.Ile956Ser) c.2864T>G (p.Ile955Ser) n.136T>G c.1805T>G (p.Ile602Ser) c.2933T>G (p.Ile978Ser) c.2990T>G (p.Ile997Ser) c.2987T>G (p.Ile996Ser) c.2924T>G (p.Ile975Ser) c.2852T>G (p.Ile951Ser) c.2792T>G (p.Ile931Ser) c.2324T>G (p.Ile775Ser) c.2267T>G (p.Ile756Ser) c.2930T>G (p.Ile977Ser) c.2921T>G (p.Ile974Ser) c.2849T>G (p.Ile950Ser) c.2726T>G (p.Ile909Ser) c.2354T>G (p.Ile785Ser) c.2144T>G (p.Ile715Ser) c.2141T>G (p.Ile714Ser) c.2332-598T>G (n.2332-598T>G) | |
2 | g.24823228A>G | CA346062510 | ADCY3 | c.2867T>C (p.Ile956Thr) c.2864T>C (p.Ile955Thr) n.136T>C c.1805T>C (p.Ile602Thr) c.2933T>C (p.Ile978Thr) c.2990T>C (p.Ile997Thr) c.2987T>C (p.Ile996Thr) c.2924T>C (p.Ile975Thr) c.2852T>C (p.Ile951Thr) c.2792T>C (p.Ile931Thr) c.2324T>C (p.Ile775Thr) c.2267T>C (p.Ile756Thr) c.2930T>C (p.Ile977Thr) c.2921T>C (p.Ile974Thr) c.2849T>C (p.Ile950Thr) c.2726T>C (p.Ile909Thr) c.2354T>C (p.Ile785Thr) c.2144T>C (p.Ile715Thr) c.2141T>C (p.Ile714Thr) c.2332-598T>C (n.2332-598T>C) | |
2 | g.24823228A>T | CA346062509 | ADCY3 | c.2867T>A (p.Ile956Asn) c.2864T>A (p.Ile955Asn) n.136T>A c.1805T>A (p.Ile602Asn) c.2933T>A (p.Ile978Asn) c.2990T>A (p.Ile997Asn) c.2987T>A (p.Ile996Asn) c.2924T>A (p.Ile975Asn) c.2852T>A (p.Ile951Asn) c.2792T>A (p.Ile931Asn) c.2324T>A (p.Ile775Asn) c.2267T>A (p.Ile756Asn) c.2930T>A (p.Ile977Asn) c.2921T>A (p.Ile974Asn) c.2849T>A (p.Ile950Asn) c.2726T>A (p.Ile909Asn) c.2354T>A (p.Ile785Asn) c.2144T>A (p.Ile715Asn) c.2141T>A (p.Ile714Asn) c.2332-598T>A (n.2332-598T>A) | |
2 | g.24823229T>A | CA346062515 | ADCY3 | c.2866A>T (p.Ile956Phe) c.2863A>T (p.Ile955Phe) n.135A>T c.1804A>T (p.Ile602Phe) c.2932A>T (p.Ile978Phe) c.2989A>T (p.Ile997Phe) c.2986A>T (p.Ile996Phe) c.2923A>T (p.Ile975Phe) c.2851A>T (p.Ile951Phe) c.2791A>T (p.Ile931Phe) c.2323A>T (p.Ile775Phe) c.2266A>T (p.Ile756Phe) c.2929A>T (p.Ile977Phe) c.2920A>T (p.Ile974Phe) c.2848A>T (p.Ile950Phe) c.2725A>T (p.Ile909Phe) c.2353A>T (p.Ile785Phe) c.2143A>T (p.Ile715Phe) c.2140A>T (p.Ile714Phe) c.2332-599A>T (n.2332-599A>T) | |
2 | g.24823229T>C | CA346062513 | ADCY3 | c.2866A>G (p.Ile956Val) c.2863A>G (p.Ile955Val) n.135A>G c.1804A>G (p.Ile602Val) c.2932A>G (p.Ile978Val) c.2989A>G (p.Ile997Val) c.2986A>G (p.Ile996Val) c.2923A>G (p.Ile975Val) c.2851A>G (p.Ile951Val) c.2791A>G (p.Ile931Val) c.2323A>G (p.Ile775Val) c.2266A>G (p.Ile756Val) c.2929A>G (p.Ile977Val) c.2920A>G (p.Ile974Val) c.2848A>G (p.Ile950Val) c.2725A>G (p.Ile909Val) c.2353A>G (p.Ile785Val) c.2143A>G (p.Ile715Val) c.2140A>G (p.Ile714Val) c.2332-599A>G (n.2332-599A>G) | |
2 | g.24823229T>G | CA346062514 | ADCY3 | c.2866A>C (p.Ile956Leu) c.2863A>C (p.Ile955Leu) n.135A>C c.1804A>C (p.Ile602Leu) c.2932A>C (p.Ile978Leu) c.2989A>C (p.Ile997Leu) c.2986A>C (p.Ile996Leu) c.2923A>C (p.Ile975Leu) c.2851A>C (p.Ile951Leu) c.2791A>C (p.Ile931Leu) c.2323A>C (p.Ile775Leu) c.2266A>C (p.Ile756Leu) c.2929A>C (p.Ile977Leu) c.2920A>C (p.Ile974Leu) c.2848A>C (p.Ile950Leu) c.2725A>C (p.Ile909Leu) c.2353A>C (p.Ile785Leu) c.2143A>C (p.Ile715Leu) c.2140A>C (p.Ile714Leu) c.2332-599A>C (n.2332-599A>C) | |
2 | g.24823230T>A | CA346062517 | ADCY3 | c.2865A>T (p.Glu955Asp) c.2862A>T (p.Glu954Asp) n.134A>T c.1803A>T (p.Glu601Asp) c.2931A>T (p.Glu977Asp) c.2988A>T (p.Glu996Asp) c.2985A>T (p.Glu995Asp) c.2922A>T (p.Glu974Asp) c.2850A>T (p.Glu950Asp) c.2790A>T (p.Glu930Asp) c.2322A>T (p.Glu774Asp) c.2265A>T (p.Glu755Asp) c.2928A>T (p.Glu976Asp) c.2919A>T (p.Glu973Asp) c.2847A>T (p.Glu949Asp) c.2724A>T (p.Glu908Asp) c.2352A>T (p.Glu784Asp) c.2142A>T (p.Glu714Asp) c.2139A>T (p.Glu713Asp) c.2332-600A>T (n.2332-600A>T) | COSMIC |
2 | g.24823230T>C | CA1553601 | ADCY3 | c.2865A>G (p.Glu955=) c.2862A>G (p.Glu954=) n.134A>G c.1803A>G (p.Glu601=) c.2931A>G (p.Glu977=) c.2988A>G (p.Glu996=) c.2985A>G (p.Glu995=) c.2922A>G (p.Glu974=) c.2850A>G (p.Glu950=) c.2790A>G (p.Glu930=) c.2322A>G (p.Glu774=) c.2265A>G (p.Glu755=) c.2928A>G (p.Glu976=) c.2919A>G (p.Glu973=) c.2847A>G (p.Glu949=) c.2724A>G (p.Glu908=) c.2352A>G (p.Glu784=) c.2142A>G (p.Glu714=) c.2139A>G (p.Glu713=) c.2332-600A>G (n.2332-600A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823230T>G | CA346062519 | ADCY3 | c.2865A>C (p.Glu955Asp) c.2862A>C (p.Glu954Asp) n.134A>C c.1803A>C (p.Glu601Asp) c.2931A>C (p.Glu977Asp) c.2988A>C (p.Glu996Asp) c.2985A>C (p.Glu995Asp) c.2922A>C (p.Glu974Asp) c.2850A>C (p.Glu950Asp) c.2790A>C (p.Glu930Asp) c.2322A>C (p.Glu774Asp) c.2265A>C (p.Glu755Asp) c.2928A>C (p.Glu976Asp) c.2919A>C (p.Glu973Asp) c.2847A>C (p.Glu949Asp) c.2724A>C (p.Glu908Asp) c.2352A>C (p.Glu784Asp) c.2142A>C (p.Glu714Asp) c.2139A>C (p.Glu713Asp) c.2332-600A>C (n.2332-600A>C) | |
2 | g.24823230T= | CA1239072271 | ADCY3 | c.2865A= (p.Glu955=) c.2862A= (p.Glu954=) n.134A= c.1803A= (p.Glu601=) c.2931A= (p.Glu977=) c.2988A= (p.Glu996=) c.2985A= (p.Glu995=) c.2922A= (p.Glu974=) c.2850A= (p.Glu950=) c.2790A= (p.Glu930=) c.2322A= (p.Glu774=) c.2265A= (p.Glu755=) c.2928A= (p.Glu976=) c.2919A= (p.Glu973=) c.2847A= (p.Glu949=) c.2724A= (p.Glu908=) c.2352A= (p.Glu784=) c.2142A= (p.Glu714=) c.2139A= (p.Glu713=) c.2332-600A= (n.2332-600A=) | |
2 | g.24823231T>A | CA346062521 | ADCY3 | c.2864A>T (p.Glu955Val) c.2861A>T (p.Glu954Val) n.133A>T c.1802A>T (p.Glu601Val) c.2930A>T (p.Glu977Val) c.2987A>T (p.Glu996Val) c.2984A>T (p.Glu995Val) c.2921A>T (p.Glu974Val) c.2849A>T (p.Glu950Val) c.2789A>T (p.Glu930Val) c.2321A>T (p.Glu774Val) c.2264A>T (p.Glu755Val) c.2927A>T (p.Glu976Val) c.2918A>T (p.Glu973Val) c.2846A>T (p.Glu949Val) c.2723A>T (p.Glu908Val) c.2351A>T (p.Glu784Val) c.2141A>T (p.Glu714Val) c.2138A>T (p.Glu713Val) c.2332-601A>T (n.2332-601A>T) | |
2 | g.24823231T>C | CA346062522 | ADCY3 | c.2864A>G (p.Glu955Gly) c.2861A>G (p.Glu954Gly) n.133A>G c.1802A>G (p.Glu601Gly) c.2930A>G (p.Glu977Gly) c.2987A>G (p.Glu996Gly) c.2984A>G (p.Glu995Gly) c.2921A>G (p.Glu974Gly) c.2849A>G (p.Glu950Gly) c.2789A>G (p.Glu930Gly) c.2321A>G (p.Glu774Gly) c.2264A>G (p.Glu755Gly) c.2927A>G (p.Glu976Gly) c.2918A>G (p.Glu973Gly) c.2846A>G (p.Glu949Gly) c.2723A>G (p.Glu908Gly) c.2351A>G (p.Glu784Gly) c.2141A>G (p.Glu714Gly) c.2138A>G (p.Glu713Gly) c.2332-601A>G (n.2332-601A>G) | |
2 | g.24823231T>G | CA346062524 | ADCY3 | c.2864A>C (p.Glu955Ala) c.2861A>C (p.Glu954Ala) n.133A>C c.1802A>C (p.Glu601Ala) c.2930A>C (p.Glu977Ala) c.2987A>C (p.Glu996Ala) c.2984A>C (p.Glu995Ala) c.2921A>C (p.Glu974Ala) c.2849A>C (p.Glu950Ala) c.2789A>C (p.Glu930Ala) c.2321A>C (p.Glu774Ala) c.2264A>C (p.Glu755Ala) c.2927A>C (p.Glu976Ala) c.2918A>C (p.Glu973Ala) c.2846A>C (p.Glu949Ala) c.2723A>C (p.Glu908Ala) c.2351A>C (p.Glu784Ala) c.2141A>C (p.Glu714Ala) c.2138A>C (p.Glu713Ala) c.2332-601A>C (n.2332-601A>C) | |
2 | g.24823232C>A | CA346062525 | ADCY3 | c.2863G>T (p.Glu955Ter) c.2860G>T (p.Glu954Ter) n.132G>T c.1801G>T (p.Glu601Ter) c.2929G>T (p.Glu977Ter) c.2986G>T (p.Glu996Ter) c.2983G>T (p.Glu995Ter) c.2920G>T (p.Glu974Ter) c.2848G>T (p.Glu950Ter) c.2788G>T (p.Glu930Ter) c.2320G>T (p.Glu774Ter) c.2263G>T (p.Glu755Ter) c.2926G>T (p.Glu976Ter) c.2917G>T (p.Glu973Ter) c.2845G>T (p.Glu949Ter) c.2722G>T (p.Glu908Ter) c.2350G>T (p.Glu784Ter) c.2140G>T (p.Glu714Ter) c.2137G>T (p.Glu713Ter) c.2332-602G>T (n.2332-602G>T) | COSMIC |
2 | g.24823232C>G | CA346062526 | ADCY3 | c.2863G>C (p.Glu955Gln) c.2860G>C (p.Glu954Gln) n.132G>C c.1801G>C (p.Glu601Gln) c.2929G>C (p.Glu977Gln) c.2986G>C (p.Glu996Gln) c.2983G>C (p.Glu995Gln) c.2920G>C (p.Glu974Gln) c.2848G>C (p.Glu950Gln) c.2788G>C (p.Glu930Gln) c.2320G>C (p.Glu774Gln) c.2263G>C (p.Glu755Gln) c.2926G>C (p.Glu976Gln) c.2917G>C (p.Glu973Gln) c.2845G>C (p.Glu949Gln) c.2722G>C (p.Glu908Gln) c.2350G>C (p.Glu784Gln) c.2140G>C (p.Glu714Gln) c.2137G>C (p.Glu713Gln) c.2332-602G>C (n.2332-602G>C) | |
2 | g.24823232C>T | CA346062527 | ADCY3 | c.2863G>A (p.Glu955Lys) c.2860G>A (p.Glu954Lys) n.132G>A c.1801G>A (p.Glu601Lys) c.2929G>A (p.Glu977Lys) c.2986G>A (p.Glu996Lys) c.2983G>A (p.Glu995Lys) c.2920G>A (p.Glu974Lys) c.2848G>A (p.Glu950Lys) c.2788G>A (p.Glu930Lys) c.2320G>A (p.Glu774Lys) c.2263G>A (p.Glu755Lys) c.2926G>A (p.Glu976Lys) c.2917G>A (p.Glu973Lys) c.2845G>A (p.Glu949Lys) c.2722G>A (p.Glu908Lys) c.2350G>A (p.Glu784Lys) c.2140G>A (p.Glu714Lys) c.2137G>A (p.Glu713Lys) c.2332-602G>A (n.2332-602G>A) | |
2 | g.24823233A= | CA1239072272 | ADCY3 | c.2862T= (p.Asn954=) c.2859T= (p.Asn953=) n.131T= c.1800T= (p.Asn600=) c.2928T= (p.Asn976=) c.2985T= (p.Asn995=) c.2982T= (p.Asn994=) c.2919T= (p.Asn973=) c.2847T= (p.Asn949=) c.2787T= (p.Asn929=) c.2319T= (p.Asn773=) c.2262T= (p.Asn754=) c.2925T= (p.Asn975=) c.2916T= (p.Asn972=) c.2844T= (p.Asn948=) c.2721T= (p.Asn907=) c.2349T= (p.Asn783=) c.2139T= (p.Asn713=) c.2136T= (p.Asn712=) c.2332-603T= (n.2332-603T=) | |
2 | g.24823233A>C | CA346062528 | ADCY3 | c.2862T>G (p.Asn954Lys) c.2859T>G (p.Asn953Lys) n.131T>G c.1800T>G (p.Asn600Lys) c.2928T>G (p.Asn976Lys) c.2985T>G (p.Asn995Lys) c.2982T>G (p.Asn994Lys) c.2919T>G (p.Asn973Lys) c.2847T>G (p.Asn949Lys) c.2787T>G (p.Asn929Lys) c.2319T>G (p.Asn773Lys) c.2262T>G (p.Asn754Lys) c.2925T>G (p.Asn975Lys) c.2916T>G (p.Asn972Lys) c.2844T>G (p.Asn948Lys) c.2721T>G (p.Asn907Lys) c.2349T>G (p.Asn783Lys) c.2139T>G (p.Asn713Lys) c.2136T>G (p.Asn712Lys) c.2332-603T>G (n.2332-603T>G) | |
2 | g.24823233A>G | CA425171945 | ADCY3 | c.2862T>C (p.Asn954=) c.2859T>C (p.Asn953=) n.131T>C c.1800T>C (p.Asn600=) c.2928T>C (p.Asn976=) c.2985T>C (p.Asn995=) c.2982T>C (p.Asn994=) c.2919T>C (p.Asn973=) c.2847T>C (p.Asn949=) c.2787T>C (p.Asn929=) c.2319T>C (p.Asn773=) c.2262T>C (p.Asn754=) c.2925T>C (p.Asn975=) c.2916T>C (p.Asn972=) c.2844T>C (p.Asn948=) c.2721T>C (p.Asn907=) c.2349T>C (p.Asn783=) c.2139T>C (p.Asn713=) c.2136T>C (p.Asn712=) c.2332-603T>C (n.2332-603T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823233A>T | CA346062529 | ADCY3 | c.2862T>A (p.Asn954Lys) c.2859T>A (p.Asn953Lys) n.131T>A c.1800T>A (p.Asn600Lys) c.2928T>A (p.Asn976Lys) c.2985T>A (p.Asn995Lys) c.2982T>A (p.Asn994Lys) c.2919T>A (p.Asn973Lys) c.2847T>A (p.Asn949Lys) c.2787T>A (p.Asn929Lys) c.2319T>A (p.Asn773Lys) c.2262T>A (p.Asn754Lys) c.2925T>A (p.Asn975Lys) c.2916T>A (p.Asn972Lys) c.2844T>A (p.Asn948Lys) c.2721T>A (p.Asn907Lys) c.2349T>A (p.Asn783Lys) c.2139T>A (p.Asn713Lys) c.2136T>A (p.Asn712Lys) c.2332-603T>A (n.2332-603T>A) | |
2 | g.24823234T>A | CA346062534 | ADCY3 | c.2861A>T (p.Asn954Ile) c.2858A>T (p.Asn953Ile) n.130A>T c.1799A>T (p.Asn600Ile) c.2927A>T (p.Asn976Ile) c.2984A>T (p.Asn995Ile) c.2981A>T (p.Asn994Ile) c.2918A>T (p.Asn973Ile) c.2846A>T (p.Asn949Ile) c.2786A>T (p.Asn929Ile) c.2318A>T (p.Asn773Ile) c.2261A>T (p.Asn754Ile) c.2924A>T (p.Asn975Ile) c.2915A>T (p.Asn972Ile) c.2843A>T (p.Asn948Ile) c.2720A>T (p.Asn907Ile) c.2348A>T (p.Asn783Ile) c.2138A>T (p.Asn713Ile) c.2135A>T (p.Asn712Ile) c.2332-604A>T (n.2332-604A>T) | |
2 | g.24823234T>C | CA346062533 | ADCY3 | c.2861A>G (p.Asn954Ser) c.2858A>G (p.Asn953Ser) n.130A>G c.1799A>G (p.Asn600Ser) c.2927A>G (p.Asn976Ser) c.2984A>G (p.Asn995Ser) c.2981A>G (p.Asn994Ser) c.2918A>G (p.Asn973Ser) c.2846A>G (p.Asn949Ser) c.2786A>G (p.Asn929Ser) c.2318A>G (p.Asn773Ser) c.2261A>G (p.Asn754Ser) c.2924A>G (p.Asn975Ser) c.2915A>G (p.Asn972Ser) c.2843A>G (p.Asn948Ser) c.2720A>G (p.Asn907Ser) c.2348A>G (p.Asn783Ser) c.2138A>G (p.Asn713Ser) c.2135A>G (p.Asn712Ser) c.2332-604A>G (n.2332-604A>G) | |
2 | g.24823234T>G | CA346062531 | ADCY3 | c.2861A>C (p.Asn954Thr) c.2858A>C (p.Asn953Thr) n.130A>C c.1799A>C (p.Asn600Thr) c.2927A>C (p.Asn976Thr) c.2984A>C (p.Asn995Thr) c.2981A>C (p.Asn994Thr) c.2918A>C (p.Asn973Thr) c.2846A>C (p.Asn949Thr) c.2786A>C (p.Asn929Thr) c.2318A>C (p.Asn773Thr) c.2261A>C (p.Asn754Thr) c.2924A>C (p.Asn975Thr) c.2915A>C (p.Asn972Thr) c.2843A>C (p.Asn948Thr) c.2720A>C (p.Asn907Thr) c.2348A>C (p.Asn783Thr) c.2138A>C (p.Asn713Thr) c.2135A>C (p.Asn712Thr) c.2332-604A>C (n.2332-604A>C) | |
2 | g.24823235del | CA2658139569 | ADCY3 | c.2861del (p.Asn954MetfsTer18) c.2858del (p.Asn953MetfsTer18) n.130del c.1799del (p.Asn600MetfsTer18) c.2927del (p.Asn976MetfsTer18) c.2984del (p.Asn995MetfsTer18) c.2981del (p.Asn994MetfsTer18) c.2918del (p.Asn973MetfsTer18) c.2846del (p.Asn949MetfsTer18) c.2786del (p.Asn929MetfsTer18) c.2318del (p.Asn773MetfsTer18) c.2261del (p.Asn754MetfsTer18) c.2924del (p.Asn975MetfsTer18) c.2915del (p.Asn972MetfsTer18) c.2843del (p.Asn948MetfsTer18) c.2720del (p.Asn907MetfsTer18) c.2348del (p.Asn783MetfsTer18) c.2138del (p.Asn713MetfsTer18) c.2135del (p.Asn712MetfsTer18) c.2332-604del (n.2332-604del) | gnomAD v4 |
2 | g.24823235T>A | CA346062536 | ADCY3 | c.2860A>T (p.Asn954Tyr) c.2857A>T (p.Asn953Tyr) n.129A>T c.1798A>T (p.Asn600Tyr) c.2926A>T (p.Asn976Tyr) c.2983A>T (p.Asn995Tyr) c.2980A>T (p.Asn994Tyr) c.2917A>T (p.Asn973Tyr) c.2845A>T (p.Asn949Tyr) c.2785A>T (p.Asn929Tyr) c.2317A>T (p.Asn773Tyr) c.2260A>T (p.Asn754Tyr) c.2923A>T (p.Asn975Tyr) c.2914A>T (p.Asn972Tyr) c.2842A>T (p.Asn948Tyr) c.2719A>T (p.Asn907Tyr) c.2347A>T (p.Asn783Tyr) c.2137A>T (p.Asn713Tyr) c.2134A>T (p.Asn712Tyr) c.2332-605A>T (n.2332-605A>T) | |
2 | g.24823235T>C | CA346062537 | ADCY3 | c.2860A>G (p.Asn954Asp) c.2857A>G (p.Asn953Asp) n.129A>G c.1798A>G (p.Asn600Asp) c.2926A>G (p.Asn976Asp) c.2983A>G (p.Asn995Asp) c.2980A>G (p.Asn994Asp) c.2917A>G (p.Asn973Asp) c.2845A>G (p.Asn949Asp) c.2785A>G (p.Asn929Asp) c.2317A>G (p.Asn773Asp) c.2260A>G (p.Asn754Asp) c.2923A>G (p.Asn975Asp) c.2914A>G (p.Asn972Asp) c.2842A>G (p.Asn948Asp) c.2719A>G (p.Asn907Asp) c.2347A>G (p.Asn783Asp) c.2137A>G (p.Asn713Asp) c.2134A>G (p.Asn712Asp) c.2332-605A>G (n.2332-605A>G) | |
2 | g.24823235T>G | CA346062538 | ADCY3 | c.2860A>C (p.Asn954His) c.2857A>C (p.Asn953His) n.129A>C c.1798A>C (p.Asn600His) c.2926A>C (p.Asn976His) c.2983A>C (p.Asn995His) c.2980A>C (p.Asn994His) c.2917A>C (p.Asn973His) c.2845A>C (p.Asn949His) c.2785A>C (p.Asn929His) c.2317A>C (p.Asn773His) c.2260A>C (p.Asn754His) c.2923A>C (p.Asn975His) c.2914A>C (p.Asn972His) c.2842A>C (p.Asn948His) c.2719A>C (p.Asn907His) c.2347A>C (p.Asn783His) c.2137A>C (p.Asn713His) c.2134A>C (p.Asn712His) c.2332-605A>C (n.2332-605A>C) | |
2 | g.24823236G>A | CA425171949 | ADCY3 | c.2859C>T (p.Leu953=) c.2856C>T (p.Leu952=) n.128C>T c.1797C>T (p.Leu599=) c.2925C>T (p.Leu975=) c.2982C>T (p.Leu994=) c.2979C>T (p.Leu993=) c.2916C>T (p.Leu972=) c.2844C>T (p.Leu948=) c.2784C>T (p.Leu928=) c.2316C>T (p.Leu772=) c.2259C>T (p.Leu753=) c.2922C>T (p.Leu974=) c.2913C>T (p.Leu971=) c.2841C>T (p.Leu947=) c.2718C>T (p.Leu906=) c.2346C>T (p.Leu782=) c.2136C>T (p.Leu712=) c.2133C>T (p.Leu711=) c.2332-606C>T (n.2332-606C>T) | |
2 | g.24823236G>C | CA425171950 | ADCY3 | c.2859C>G (p.Leu953=) c.2856C>G (p.Leu952=) n.128C>G c.1797C>G (p.Leu599=) c.2925C>G (p.Leu975=) c.2982C>G (p.Leu994=) c.2979C>G (p.Leu993=) c.2916C>G (p.Leu972=) c.2844C>G (p.Leu948=) c.2784C>G (p.Leu928=) c.2316C>G (p.Leu772=) c.2259C>G (p.Leu753=) c.2922C>G (p.Leu974=) c.2913C>G (p.Leu971=) c.2841C>G (p.Leu947=) c.2718C>G (p.Leu906=) c.2346C>G (p.Leu782=) c.2136C>G (p.Leu712=) c.2133C>G (p.Leu711=) c.2332-606C>G (n.2332-606C>G) | |
2 | g.24823236G>T | CA425171948 | ADCY3 | c.2859C>A (p.Leu953=) c.2856C>A (p.Leu952=) n.128C>A c.1797C>A (p.Leu599=) c.2925C>A (p.Leu975=) c.2982C>A (p.Leu994=) c.2979C>A (p.Leu993=) c.2916C>A (p.Leu972=) c.2844C>A (p.Leu948=) c.2784C>A (p.Leu928=) c.2316C>A (p.Leu772=) c.2259C>A (p.Leu753=) c.2922C>A (p.Leu974=) c.2913C>A (p.Leu971=) c.2841C>A (p.Leu947=) c.2718C>A (p.Leu906=) c.2346C>A (p.Leu782=) c.2136C>A (p.Leu712=) c.2133C>A (p.Leu711=) c.2332-606C>A (n.2332-606C>A) | |
2 | g.24823237A>C | CA346062540 | ADCY3 | c.2858T>G (p.Leu953Arg) c.2855T>G (p.Leu952Arg) n.127T>G c.1796T>G (p.Leu599Arg) c.2924T>G (p.Leu975Arg) c.2981T>G (p.Leu994Arg) c.2978T>G (p.Leu993Arg) c.2915T>G (p.Leu972Arg) c.2843T>G (p.Leu948Arg) c.2783T>G (p.Leu928Arg) c.2315T>G (p.Leu772Arg) c.2258T>G (p.Leu753Arg) c.2921T>G (p.Leu974Arg) c.2912T>G (p.Leu971Arg) c.2840T>G (p.Leu947Arg) c.2717T>G (p.Leu906Arg) c.2345T>G (p.Leu782Arg) c.2135T>G (p.Leu712Arg) c.2132T>G (p.Leu711Arg) c.2332-607T>G (n.2332-607T>G) | |
2 | g.24823237A>G | CA346062542 | ADCY3 | c.2858T>C (p.Leu953Pro) c.2855T>C (p.Leu952Pro) n.127T>C c.1796T>C (p.Leu599Pro) c.2924T>C (p.Leu975Pro) c.2981T>C (p.Leu994Pro) c.2978T>C (p.Leu993Pro) c.2915T>C (p.Leu972Pro) c.2843T>C (p.Leu948Pro) c.2783T>C (p.Leu928Pro) c.2315T>C (p.Leu772Pro) c.2258T>C (p.Leu753Pro) c.2921T>C (p.Leu974Pro) c.2912T>C (p.Leu971Pro) c.2840T>C (p.Leu947Pro) c.2717T>C (p.Leu906Pro) c.2345T>C (p.Leu782Pro) c.2135T>C (p.Leu712Pro) c.2132T>C (p.Leu711Pro) c.2332-607T>C (n.2332-607T>C) | |
2 | g.24823237A>T | CA346062543 | ADCY3 | c.2858T>A (p.Leu953His) c.2855T>A (p.Leu952His) n.127T>A c.1796T>A (p.Leu599His) c.2924T>A (p.Leu975His) c.2981T>A (p.Leu994His) c.2978T>A (p.Leu993His) c.2915T>A (p.Leu972His) c.2843T>A (p.Leu948His) c.2783T>A (p.Leu928His) c.2315T>A (p.Leu772His) c.2258T>A (p.Leu753His) c.2921T>A (p.Leu974His) c.2912T>A (p.Leu971His) c.2840T>A (p.Leu947His) c.2717T>A (p.Leu906His) c.2345T>A (p.Leu782His) c.2135T>A (p.Leu712His) c.2132T>A (p.Leu711His) c.2332-607T>A (n.2332-607T>A) | |
2 | g.24823238G>A | CA346062545 | ADCY3 | c.2857C>T (p.Leu953Phe) c.2854C>T (p.Leu952Phe) n.126C>T c.1795C>T (p.Leu599Phe) c.2923C>T (p.Leu975Phe) c.2980C>T (p.Leu994Phe) c.2977C>T (p.Leu993Phe) c.2914C>T (p.Leu972Phe) c.2842C>T (p.Leu948Phe) c.2782C>T (p.Leu928Phe) c.2314C>T (p.Leu772Phe) c.2257C>T (p.Leu753Phe) c.2920C>T (p.Leu974Phe) c.2911C>T (p.Leu971Phe) c.2839C>T (p.Leu947Phe) c.2716C>T (p.Leu906Phe) c.2344C>T (p.Leu782Phe) c.2134C>T (p.Leu712Phe) c.2131C>T (p.Leu711Phe) c.2332-608C>T (n.2332-608C>T) | |
2 | g.24823238G>C | CA346062546 | ADCY3 | c.2857C>G (p.Leu953Val) c.2854C>G (p.Leu952Val) n.126C>G c.1795C>G (p.Leu599Val) c.2923C>G (p.Leu975Val) c.2980C>G (p.Leu994Val) c.2977C>G (p.Leu993Val) c.2914C>G (p.Leu972Val) c.2842C>G (p.Leu948Val) c.2782C>G (p.Leu928Val) c.2314C>G (p.Leu772Val) c.2257C>G (p.Leu753Val) c.2920C>G (p.Leu974Val) c.2911C>G (p.Leu971Val) c.2839C>G (p.Leu947Val) c.2716C>G (p.Leu906Val) c.2344C>G (p.Leu782Val) c.2134C>G (p.Leu712Val) c.2131C>G (p.Leu711Val) c.2332-608C>G (n.2332-608C>G) | |
2 | g.24823238G>T | CA346062547 | ADCY3 | c.2857C>A (p.Leu953Ile) c.2854C>A (p.Leu952Ile) n.126C>A c.1795C>A (p.Leu599Ile) c.2923C>A (p.Leu975Ile) c.2980C>A (p.Leu994Ile) c.2977C>A (p.Leu993Ile) c.2914C>A (p.Leu972Ile) c.2842C>A (p.Leu948Ile) c.2782C>A (p.Leu928Ile) c.2314C>A (p.Leu772Ile) c.2257C>A (p.Leu753Ile) c.2920C>A (p.Leu974Ile) c.2911C>A (p.Leu971Ile) c.2839C>A (p.Leu947Ile) c.2716C>A (p.Leu906Ile) c.2344C>A (p.Leu782Ile) c.2134C>A (p.Leu712Ile) c.2131C>A (p.Leu711Ile) c.2332-608C>A (n.2332-608C>A) | |
2 | g.24823239G>A | CA425171955 | ADCY3 | c.2856C>T (p.Phe952=) c.2853C>T (p.Phe951=) n.125C>T c.1794C>T (p.Phe598=) c.2922C>T (p.Phe974=) c.2979C>T (p.Phe993=) c.2976C>T (p.Phe992=) c.2913C>T (p.Phe971=) c.2841C>T (p.Phe947=) c.2781C>T (p.Phe927=) c.2313C>T (p.Phe771=) c.2256C>T (p.Phe752=) c.2919C>T (p.Phe973=) c.2910C>T (p.Phe970=) c.2838C>T (p.Phe946=) c.2715C>T (p.Phe905=) c.2343C>T (p.Phe781=) c.2133C>T (p.Phe711=) c.2130C>T (p.Phe710=) c.2332-609C>T (n.2332-609C>T) | gnomAD v4 |
2 | g.24823239G>C | CA346062549 | ADCY3 | c.2856C>G (p.Phe952Leu) c.2853C>G (p.Phe951Leu) n.125C>G c.1794C>G (p.Phe598Leu) c.2922C>G (p.Phe974Leu) c.2979C>G (p.Phe993Leu) c.2976C>G (p.Phe992Leu) c.2913C>G (p.Phe971Leu) c.2841C>G (p.Phe947Leu) c.2781C>G (p.Phe927Leu) c.2313C>G (p.Phe771Leu) c.2256C>G (p.Phe752Leu) c.2919C>G (p.Phe973Leu) c.2910C>G (p.Phe970Leu) c.2838C>G (p.Phe946Leu) c.2715C>G (p.Phe905Leu) c.2343C>G (p.Phe781Leu) c.2133C>G (p.Phe711Leu) c.2130C>G (p.Phe710Leu) c.2332-609C>G (n.2332-609C>G) | |
2 | g.24823239G>T | CA346062550 | ADCY3 | c.2856C>A (p.Phe952Leu) c.2853C>A (p.Phe951Leu) n.125C>A c.1794C>A (p.Phe598Leu) c.2922C>A (p.Phe974Leu) c.2979C>A (p.Phe993Leu) c.2976C>A (p.Phe992Leu) c.2913C>A (p.Phe971Leu) c.2841C>A (p.Phe947Leu) c.2781C>A (p.Phe927Leu) c.2313C>A (p.Phe771Leu) c.2256C>A (p.Phe752Leu) c.2919C>A (p.Phe973Leu) c.2910C>A (p.Phe970Leu) c.2838C>A (p.Phe946Leu) c.2715C>A (p.Phe905Leu) c.2343C>A (p.Phe781Leu) c.2133C>A (p.Phe711Leu) c.2130C>A (p.Phe710Leu) c.2332-609C>A (n.2332-609C>A) | |
2 | g.24823240A= | CA1239072273 | ADCY3 | c.2855T= (p.Phe952=) c.2852T= (p.Phe951=) n.124T= c.1793T= (p.Phe598=) c.2921T= (p.Phe974=) c.2978T= (p.Phe993=) c.2975T= (p.Phe992=) c.2912T= (p.Phe971=) c.2840T= (p.Phe947=) c.2780T= (p.Phe927=) c.2312T= (p.Phe771=) c.2255T= (p.Phe752=) c.2918T= (p.Phe973=) c.2909T= (p.Phe970=) c.2837T= (p.Phe946=) c.2714T= (p.Phe905=) c.2342T= (p.Phe781=) c.2132T= (p.Phe711=) c.2129T= (p.Phe710=) c.2332-610T= (n.2332-610T=) | |
2 | g.24823240A>C | CA1553602 | ADCY3 | c.2855T>G (p.Phe952Cys) c.2852T>G (p.Phe951Cys) n.124T>G c.1793T>G (p.Phe598Cys) c.2921T>G (p.Phe974Cys) c.2978T>G (p.Phe993Cys) c.2975T>G (p.Phe992Cys) c.2912T>G (p.Phe971Cys) c.2840T>G (p.Phe947Cys) c.2780T>G (p.Phe927Cys) c.2312T>G (p.Phe771Cys) c.2255T>G (p.Phe752Cys) c.2918T>G (p.Phe973Cys) c.2909T>G (p.Phe970Cys) c.2837T>G (p.Phe946Cys) c.2714T>G (p.Phe905Cys) c.2342T>G (p.Phe781Cys) c.2132T>G (p.Phe711Cys) c.2129T>G (p.Phe710Cys) c.2332-610T>G (n.2332-610T>G) | dbSNP ExAC |
2 | g.24823240A>G | CA346062553 | ADCY3 | c.2855T>C (p.Phe952Ser) c.2852T>C (p.Phe951Ser) n.124T>C c.1793T>C (p.Phe598Ser) c.2921T>C (p.Phe974Ser) c.2978T>C (p.Phe993Ser) c.2975T>C (p.Phe992Ser) c.2912T>C (p.Phe971Ser) c.2840T>C (p.Phe947Ser) c.2780T>C (p.Phe927Ser) c.2312T>C (p.Phe771Ser) c.2255T>C (p.Phe752Ser) c.2918T>C (p.Phe973Ser) c.2909T>C (p.Phe970Ser) c.2837T>C (p.Phe946Ser) c.2714T>C (p.Phe905Ser) c.2342T>C (p.Phe781Ser) c.2132T>C (p.Phe711Ser) c.2129T>C (p.Phe710Ser) c.2332-610T>C (n.2332-610T>C) | |
2 | g.24823240A>T | CA346062554 | ADCY3 | c.2855T>A (p.Phe952Tyr) c.2852T>A (p.Phe951Tyr) n.124T>A c.1793T>A (p.Phe598Tyr) c.2921T>A (p.Phe974Tyr) c.2978T>A (p.Phe993Tyr) c.2975T>A (p.Phe992Tyr) c.2912T>A (p.Phe971Tyr) c.2840T>A (p.Phe947Tyr) c.2780T>A (p.Phe927Tyr) c.2312T>A (p.Phe771Tyr) c.2255T>A (p.Phe752Tyr) c.2918T>A (p.Phe973Tyr) c.2909T>A (p.Phe970Tyr) c.2837T>A (p.Phe946Tyr) c.2714T>A (p.Phe905Tyr) c.2342T>A (p.Phe781Tyr) c.2132T>A (p.Phe711Tyr) c.2129T>A (p.Phe710Tyr) c.2332-610T>A (n.2332-610T>A) | |
2 | g.24823241A= | CA1239072274 | ADCY3 | c.2854T= (p.Phe952=) c.2851T= (p.Phe951=) n.123T= c.1792T= (p.Phe598=) c.2920T= (p.Phe974=) c.2977T= (p.Phe993=) c.2974T= (p.Phe992=) c.2911T= (p.Phe971=) c.2839T= (p.Phe947=) c.2779T= (p.Phe927=) c.2311T= (p.Phe771=) c.2254T= (p.Phe752=) c.2917T= (p.Phe973=) c.2908T= (p.Phe970=) c.2836T= (p.Phe946=) c.2713T= (p.Phe905=) c.2341T= (p.Phe781=) c.2131T= (p.Phe711=) c.2128T= (p.Phe710=) c.2332-611T= (n.2332-611T=) | |
2 | g.24823241A>C | CA346062557 | ADCY3 | c.2854T>G (p.Phe952Val) c.2851T>G (p.Phe951Val) n.123T>G c.1792T>G (p.Phe598Val) c.2920T>G (p.Phe974Val) c.2977T>G (p.Phe993Val) c.2974T>G (p.Phe992Val) c.2911T>G (p.Phe971Val) c.2839T>G (p.Phe947Val) c.2779T>G (p.Phe927Val) c.2311T>G (p.Phe771Val) c.2254T>G (p.Phe752Val) c.2917T>G (p.Phe973Val) c.2908T>G (p.Phe970Val) c.2836T>G (p.Phe946Val) c.2713T>G (p.Phe905Val) c.2341T>G (p.Phe781Val) c.2131T>G (p.Phe711Val) c.2128T>G (p.Phe710Val) c.2332-611T>G (n.2332-611T>G) | |
2 | g.24823241A>G | CA1553603 | ADCY3 | c.2854T>C (p.Phe952Leu) c.2851T>C (p.Phe951Leu) n.123T>C c.1792T>C (p.Phe598Leu) c.2920T>C (p.Phe974Leu) c.2977T>C (p.Phe993Leu) c.2974T>C (p.Phe992Leu) c.2911T>C (p.Phe971Leu) c.2839T>C (p.Phe947Leu) c.2779T>C (p.Phe927Leu) c.2311T>C (p.Phe771Leu) c.2254T>C (p.Phe752Leu) c.2917T>C (p.Phe973Leu) c.2908T>C (p.Phe970Leu) c.2836T>C (p.Phe946Leu) c.2713T>C (p.Phe905Leu) c.2341T>C (p.Phe781Leu) c.2131T>C (p.Phe711Leu) c.2128T>C (p.Phe710Leu) c.2332-611T>C (n.2332-611T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823241A>T | CA346062555 | ADCY3 | c.2854T>A (p.Phe952Ile) c.2851T>A (p.Phe951Ile) n.123T>A c.1792T>A (p.Phe598Ile) c.2920T>A (p.Phe974Ile) c.2977T>A (p.Phe993Ile) c.2974T>A (p.Phe992Ile) c.2911T>A (p.Phe971Ile) c.2839T>A (p.Phe947Ile) c.2779T>A (p.Phe927Ile) c.2311T>A (p.Phe771Ile) c.2254T>A (p.Phe752Ile) c.2917T>A (p.Phe973Ile) c.2908T>A (p.Phe970Ile) c.2836T>A (p.Phe946Ile) c.2713T>A (p.Phe905Ile) c.2341T>A (p.Phe781Ile) c.2131T>A (p.Phe711Ile) c.2128T>A (p.Phe710Ile) c.2332-611T>A (n.2332-611T>A) | |
2 | g.24823242A>C | CA425171957 | ADCY3 | c.2853T>G (p.Arg951=) c.2850T>G (p.Arg950=) n.122T>G c.1791T>G (p.Arg597=) c.2919T>G (p.Arg973=) c.2976T>G (p.Arg992=) c.2973T>G (p.Arg991=) c.2910T>G (p.Arg970=) c.2838T>G (p.Arg946=) c.2778T>G (p.Arg926=) c.2310T>G (p.Arg770=) c.2253T>G (p.Arg751=) c.2916T>G (p.Arg972=) c.2907T>G (p.Arg969=) c.2835T>G (p.Arg945=) c.2712T>G (p.Arg904=) c.2340T>G (p.Arg780=) c.2130T>G (p.Arg710=) c.2127T>G (p.Arg709=) c.2332-612T>G (n.2332-612T>G) | |
2 | g.24823242A>G | CA425171960 | ADCY3 | c.2853T>C (p.Arg951=) c.2850T>C (p.Arg950=) n.122T>C c.1791T>C (p.Arg597=) c.2919T>C (p.Arg973=) c.2976T>C (p.Arg992=) c.2973T>C (p.Arg991=) c.2910T>C (p.Arg970=) c.2838T>C (p.Arg946=) c.2778T>C (p.Arg926=) c.2310T>C (p.Arg770=) c.2253T>C (p.Arg751=) c.2916T>C (p.Arg972=) c.2907T>C (p.Arg969=) c.2835T>C (p.Arg945=) c.2712T>C (p.Arg904=) c.2340T>C (p.Arg780=) c.2130T>C (p.Arg710=) c.2127T>C (p.Arg709=) c.2332-612T>C (n.2332-612T>C) | |
2 | g.24823242A>T | CA425171958 | ADCY3 | c.2853T>A (p.Arg951=) c.2850T>A (p.Arg950=) n.122T>A c.1791T>A (p.Arg597=) c.2919T>A (p.Arg973=) c.2976T>A (p.Arg992=) c.2973T>A (p.Arg991=) c.2910T>A (p.Arg970=) c.2838T>A (p.Arg946=) c.2778T>A (p.Arg926=) c.2310T>A (p.Arg770=) c.2253T>A (p.Arg751=) c.2916T>A (p.Arg972=) c.2907T>A (p.Arg969=) c.2835T>A (p.Arg945=) c.2712T>A (p.Arg904=) c.2340T>A (p.Arg780=) c.2130T>A (p.Arg710=) c.2127T>A (p.Arg709=) c.2332-612T>A (n.2332-612T>A) | |
2 | g.24823243C>A | CA346062559 | ADCY3 | c.2852G>T (p.Arg951Leu) c.2849G>T (p.Arg950Leu) n.121G>T c.1790G>T (p.Arg597Leu) c.2918G>T (p.Arg973Leu) c.2975G>T (p.Arg992Leu) c.2972G>T (p.Arg991Leu) c.2909G>T (p.Arg970Leu) c.2837G>T (p.Arg946Leu) c.2777G>T (p.Arg926Leu) c.2309G>T (p.Arg770Leu) c.2252G>T (p.Arg751Leu) c.2915G>T (p.Arg972Leu) c.2906G>T (p.Arg969Leu) c.2834G>T (p.Arg945Leu) c.2711G>T (p.Arg904Leu) c.2339G>T (p.Arg780Leu) c.2129G>T (p.Arg710Leu) c.2126G>T (p.Arg709Leu) c.2332-613G>T (n.2332-613G>T) | |
2 | g.24823243C= | CA1239072275 | ADCY3 | c.2852G= (p.Arg951=) c.2849G= (p.Arg950=) n.121G= c.1790G= (p.Arg597=) c.2918G= (p.Arg973=) c.2975G= (p.Arg992=) c.2972G= (p.Arg991=) c.2909G= (p.Arg970=) c.2837G= (p.Arg946=) c.2777G= (p.Arg926=) c.2309G= (p.Arg770=) c.2252G= (p.Arg751=) c.2915G= (p.Arg972=) c.2906G= (p.Arg969=) c.2834G= (p.Arg945=) c.2711G= (p.Arg904=) c.2339G= (p.Arg780=) c.2129G= (p.Arg710=) c.2126G= (p.Arg709=) c.2332-613G= (n.2332-613G=) | |
2 | g.24823243C>G | CA346062561 | ADCY3 | c.2852G>C (p.Arg951Pro) c.2849G>C (p.Arg950Pro) n.121G>C c.1790G>C (p.Arg597Pro) c.2918G>C (p.Arg973Pro) c.2975G>C (p.Arg992Pro) c.2972G>C (p.Arg991Pro) c.2909G>C (p.Arg970Pro) c.2837G>C (p.Arg946Pro) c.2777G>C (p.Arg926Pro) c.2309G>C (p.Arg770Pro) c.2252G>C (p.Arg751Pro) c.2915G>C (p.Arg972Pro) c.2906G>C (p.Arg969Pro) c.2834G>C (p.Arg945Pro) c.2711G>C (p.Arg904Pro) c.2339G>C (p.Arg780Pro) c.2129G>C (p.Arg710Pro) c.2126G>C (p.Arg709Pro) c.2332-613G>C (n.2332-613G>C) | |
2 | g.24823243C>T | CA1553604 | ADCY3 | c.2852G>A (p.Arg951His) c.2849G>A (p.Arg950His) n.121G>A c.1790G>A (p.Arg597His) c.2918G>A (p.Arg973His) c.2975G>A (p.Arg992His) c.2972G>A (p.Arg991His) c.2909G>A (p.Arg970His) c.2837G>A (p.Arg946His) c.2777G>A (p.Arg926His) c.2309G>A (p.Arg770His) c.2252G>A (p.Arg751His) c.2915G>A (p.Arg972His) c.2906G>A (p.Arg969His) c.2834G>A (p.Arg945His) c.2711G>A (p.Arg904His) c.2339G>A (p.Arg780His) c.2129G>A (p.Arg710His) c.2126G>A (p.Arg709His) c.2332-613G>A (n.2332-613G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823244G>A | CA346062564 | ADCY3 | c.2851C>T (p.Arg951Cys) c.2848C>T (p.Arg950Cys) n.120C>T c.1789C>T (p.Arg597Cys) c.2917C>T (p.Arg973Cys) c.2974C>T (p.Arg992Cys) c.2971C>T (p.Arg991Cys) c.2908C>T (p.Arg970Cys) c.2836C>T (p.Arg946Cys) c.2776C>T (p.Arg926Cys) c.2308C>T (p.Arg770Cys) c.2251C>T (p.Arg751Cys) c.2914C>T (p.Arg972Cys) c.2905C>T (p.Arg969Cys) c.2833C>T (p.Arg945Cys) c.2710C>T (p.Arg904Cys) c.2338C>T (p.Arg780Cys) c.2128C>T (p.Arg710Cys) c.2125C>T (p.Arg709Cys) c.2332-614C>T (n.2332-614C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24823244G>C | CA346062566 | ADCY3 | c.2851C>G (p.Arg951Gly) c.2848C>G (p.Arg950Gly) n.120C>G c.1789C>G (p.Arg597Gly) c.2917C>G (p.Arg973Gly) c.2974C>G (p.Arg992Gly) c.2971C>G (p.Arg991Gly) c.2908C>G (p.Arg970Gly) c.2836C>G (p.Arg946Gly) c.2776C>G (p.Arg926Gly) c.2308C>G (p.Arg770Gly) c.2251C>G (p.Arg751Gly) c.2914C>G (p.Arg972Gly) c.2905C>G (p.Arg969Gly) c.2833C>G (p.Arg945Gly) c.2710C>G (p.Arg904Gly) c.2338C>G (p.Arg780Gly) c.2128C>G (p.Arg710Gly) c.2125C>G (p.Arg709Gly) c.2332-614C>G (n.2332-614C>G) | |
2 | g.24823244G>T | CA346062569 | ADCY3 | c.2851C>A (p.Arg951Ser) c.2848C>A (p.Arg950Ser) n.120C>A c.1789C>A (p.Arg597Ser) c.2917C>A (p.Arg973Ser) c.2974C>A (p.Arg992Ser) c.2971C>A (p.Arg991Ser) c.2908C>A (p.Arg970Ser) c.2836C>A (p.Arg946Ser) c.2776C>A (p.Arg926Ser) c.2308C>A (p.Arg770Ser) c.2251C>A (p.Arg751Ser) c.2914C>A (p.Arg972Ser) c.2905C>A (p.Arg969Ser) c.2833C>A (p.Arg945Ser) c.2710C>A (p.Arg904Ser) c.2338C>A (p.Arg780Ser) c.2128C>A (p.Arg710Ser) c.2125C>A (p.Arg709Ser) c.2332-614C>A (n.2332-614C>A) | |
2 | g.24823245C>A | CA425171962 | ADCY3 | c.2850G>T (p.Leu950=) c.2847G>T (p.Leu949=) n.119G>T c.1788G>T (p.Leu596=) c.2916G>T (p.Leu972=) c.2973G>T (p.Leu991=) c.2970G>T (p.Leu990=) c.2907G>T (p.Leu969=) c.2835G>T (p.Leu945=) c.2775G>T (p.Leu925=) c.2307G>T (p.Leu769=) c.2250G>T (p.Leu750=) c.2913G>T (p.Leu971=) c.2904G>T (p.Leu968=) c.2832G>T (p.Leu944=) c.2709G>T (p.Leu903=) c.2337G>T (p.Leu779=) c.2127G>T (p.Leu709=) c.2124G>T (p.Leu708=) c.2332-615G>T (n.2332-615G>T) | |
2 | g.24823245C= | CA1239072276 | ADCY3 | c.2850G= (p.Leu950=) c.2847G= (p.Leu949=) n.119G= c.1788G= (p.Leu596=) c.2916G= (p.Leu972=) c.2973G= (p.Leu991=) c.2970G= (p.Leu990=) c.2907G= (p.Leu969=) c.2835G= (p.Leu945=) c.2775G= (p.Leu925=) c.2307G= (p.Leu769=) c.2250G= (p.Leu750=) c.2913G= (p.Leu971=) c.2904G= (p.Leu968=) c.2832G= (p.Leu944=) c.2709G= (p.Leu903=) c.2337G= (p.Leu779=) c.2127G= (p.Leu709=) c.2124G= (p.Leu708=) c.2332-615G= (n.2332-615G=) | |
2 | g.24823245C>G | CA425171963 | ADCY3 | c.2850G>C (p.Leu950=) c.2847G>C (p.Leu949=) n.119G>C c.1788G>C (p.Leu596=) c.2916G>C (p.Leu972=) c.2973G>C (p.Leu991=) c.2970G>C (p.Leu990=) c.2907G>C (p.Leu969=) c.2835G>C (p.Leu945=) c.2775G>C (p.Leu925=) c.2307G>C (p.Leu769=) c.2250G>C (p.Leu750=) c.2913G>C (p.Leu971=) c.2904G>C (p.Leu968=) c.2832G>C (p.Leu944=) c.2709G>C (p.Leu903=) c.2337G>C (p.Leu779=) c.2127G>C (p.Leu709=) c.2124G>C (p.Leu708=) c.2332-615G>C (n.2332-615G>C) | |
2 | g.24823245C>T | CA425171964 | ADCY3 | c.2850G>A (p.Leu950=) c.2847G>A (p.Leu949=) n.119G>A c.1788G>A (p.Leu596=) c.2916G>A (p.Leu972=) c.2973G>A (p.Leu991=) c.2970G>A (p.Leu990=) c.2907G>A (p.Leu969=) c.2835G>A (p.Leu945=) c.2775G>A (p.Leu925=) c.2307G>A (p.Leu769=) c.2250G>A (p.Leu750=) c.2913G>A (p.Leu971=) c.2904G>A (p.Leu968=) c.2832G>A (p.Leu944=) c.2709G>A (p.Leu903=) c.2337G>A (p.Leu779=) c.2127G>A (p.Leu709=) c.2124G>A (p.Leu708=) c.2332-615G>A (n.2332-615G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823246A>C | CA346062571 | ADCY3 | c.2849T>G (p.Leu950Arg) c.2846T>G (p.Leu949Arg) n.118T>G c.1787T>G (p.Leu596Arg) c.2915T>G (p.Leu972Arg) c.2972T>G (p.Leu991Arg) c.2969T>G (p.Leu990Arg) c.2906T>G (p.Leu969Arg) c.2834T>G (p.Leu945Arg) c.2774T>G (p.Leu925Arg) c.2306T>G (p.Leu769Arg) c.2249T>G (p.Leu750Arg) c.2912T>G (p.Leu971Arg) c.2903T>G (p.Leu968Arg) c.2831T>G (p.Leu944Arg) c.2708T>G (p.Leu903Arg) c.2336T>G (p.Leu779Arg) c.2126T>G (p.Leu709Arg) c.2123T>G (p.Leu708Arg) c.2332-616T>G (n.2332-616T>G) | |
2 | g.24823246A>G | CA346062572 | ADCY3 | c.2849T>C (p.Leu950Pro) c.2846T>C (p.Leu949Pro) n.118T>C c.1787T>C (p.Leu596Pro) c.2915T>C (p.Leu972Pro) c.2972T>C (p.Leu991Pro) c.2969T>C (p.Leu990Pro) c.2906T>C (p.Leu969Pro) c.2834T>C (p.Leu945Pro) c.2774T>C (p.Leu925Pro) c.2306T>C (p.Leu769Pro) c.2249T>C (p.Leu750Pro) c.2912T>C (p.Leu971Pro) c.2903T>C (p.Leu968Pro) c.2831T>C (p.Leu944Pro) c.2708T>C (p.Leu903Pro) c.2336T>C (p.Leu779Pro) c.2126T>C (p.Leu709Pro) c.2123T>C (p.Leu708Pro) c.2332-616T>C (n.2332-616T>C) | |
2 | g.24823246A>T | CA346062573 | ADCY3 | c.2849T>A (p.Leu950Gln) c.2846T>A (p.Leu949Gln) n.118T>A c.1787T>A (p.Leu596Gln) c.2915T>A (p.Leu972Gln) c.2972T>A (p.Leu991Gln) c.2969T>A (p.Leu990Gln) c.2906T>A (p.Leu969Gln) c.2834T>A (p.Leu945Gln) c.2774T>A (p.Leu925Gln) c.2306T>A (p.Leu769Gln) c.2249T>A (p.Leu750Gln) c.2912T>A (p.Leu971Gln) c.2903T>A (p.Leu968Gln) c.2831T>A (p.Leu944Gln) c.2708T>A (p.Leu903Gln) c.2336T>A (p.Leu779Gln) c.2126T>A (p.Leu709Gln) c.2123T>A (p.Leu708Gln) c.2332-616T>A (n.2332-616T>A) | |
2 | g.24823247G>A | CA425171965 | ADCY3 | c.2848C>T (p.Leu950=) c.2845C>T (p.Leu949=) n.117C>T c.1786C>T (p.Leu596=) c.2914C>T (p.Leu972=) c.2971C>T (p.Leu991=) c.2968C>T (p.Leu990=) c.2905C>T (p.Leu969=) c.2833C>T (p.Leu945=) c.2773C>T (p.Leu925=) c.2305C>T (p.Leu769=) c.2248C>T (p.Leu750=) c.2911C>T (p.Leu971=) c.2902C>T (p.Leu968=) c.2830C>T (p.Leu944=) c.2707C>T (p.Leu903=) c.2335C>T (p.Leu779=) c.2125C>T (p.Leu709=) c.2122C>T (p.Leu708=) c.2332-617C>T (n.2332-617C>T) | |
2 | g.24823247G>C | CA346062575 | ADCY3 | c.2848C>G (p.Leu950Val) c.2845C>G (p.Leu949Val) n.117C>G c.1786C>G (p.Leu596Val) c.2914C>G (p.Leu972Val) c.2971C>G (p.Leu991Val) c.2968C>G (p.Leu990Val) c.2905C>G (p.Leu969Val) c.2833C>G (p.Leu945Val) c.2773C>G (p.Leu925Val) c.2305C>G (p.Leu769Val) c.2248C>G (p.Leu750Val) c.2911C>G (p.Leu971Val) c.2902C>G (p.Leu968Val) c.2830C>G (p.Leu944Val) c.2707C>G (p.Leu903Val) c.2335C>G (p.Leu779Val) c.2125C>G (p.Leu709Val) c.2122C>G (p.Leu708Val) c.2332-617C>G (n.2332-617C>G) | |
2 | g.24823247G>T | CA346062578 | ADCY3 | c.2848C>A (p.Leu950Met) c.2845C>A (p.Leu949Met) n.117C>A c.1786C>A (p.Leu596Met) c.2914C>A (p.Leu972Met) c.2971C>A (p.Leu991Met) c.2968C>A (p.Leu990Met) c.2905C>A (p.Leu969Met) c.2833C>A (p.Leu945Met) c.2773C>A (p.Leu925Met) c.2305C>A (p.Leu769Met) c.2248C>A (p.Leu750Met) c.2911C>A (p.Leu971Met) c.2902C>A (p.Leu968Met) c.2830C>A (p.Leu944Met) c.2707C>A (p.Leu903Met) c.2335C>A (p.Leu779Met) c.2125C>A (p.Leu709Met) c.2122C>A (p.Leu708Met) c.2332-617C>A (n.2332-617C>A) | |
2 | g.24823248A>C | CA346062580 | ADCY3 | c.2847T>G (p.Cys949Trp) c.2844T>G (p.Cys948Trp) n.116T>G c.1785T>G (p.Cys595Trp) c.2913T>G (p.Cys971Trp) c.2970T>G (p.Cys990Trp) c.2967T>G (p.Cys989Trp) c.2904T>G (p.Cys968Trp) c.2832T>G (p.Cys944Trp) c.2772T>G (p.Cys924Trp) c.2304T>G (p.Cys768Trp) c.2247T>G (p.Cys749Trp) c.2910T>G (p.Cys970Trp) c.2901T>G (p.Cys967Trp) c.2829T>G (p.Cys943Trp) c.2706T>G (p.Cys902Trp) c.2334T>G (p.Cys778Trp) c.2124T>G (p.Cys708Trp) c.2121T>G (p.Cys707Trp) c.2332-618T>G (n.2332-618T>G) | |
2 | g.24823248A>G | CA425171967 | ADCY3 | c.2847T>C (p.Cys949=) c.2844T>C (p.Cys948=) n.116T>C c.1785T>C (p.Cys595=) c.2913T>C (p.Cys971=) c.2970T>C (p.Cys990=) c.2967T>C (p.Cys989=) c.2904T>C (p.Cys968=) c.2832T>C (p.Cys944=) c.2772T>C (p.Cys924=) c.2304T>C (p.Cys768=) c.2247T>C (p.Cys749=) c.2910T>C (p.Cys970=) c.2901T>C (p.Cys967=) c.2829T>C (p.Cys943=) c.2706T>C (p.Cys902=) c.2334T>C (p.Cys778=) c.2124T>C (p.Cys708=) c.2121T>C (p.Cys707=) c.2332-618T>C (n.2332-618T>C) | |
2 | g.24823248A>T | CA346062583 | ADCY3 | c.2847T>A (p.Cys949Ter) c.2844T>A (p.Cys948Ter) n.116T>A c.1785T>A (p.Cys595Ter) c.2913T>A (p.Cys971Ter) c.2970T>A (p.Cys990Ter) c.2967T>A (p.Cys989Ter) c.2904T>A (p.Cys968Ter) c.2832T>A (p.Cys944Ter) c.2772T>A (p.Cys924Ter) c.2304T>A (p.Cys768Ter) c.2247T>A (p.Cys749Ter) c.2910T>A (p.Cys970Ter) c.2901T>A (p.Cys967Ter) c.2829T>A (p.Cys943Ter) c.2706T>A (p.Cys902Ter) c.2334T>A (p.Cys778Ter) c.2124T>A (p.Cys708Ter) c.2121T>A (p.Cys707Ter) c.2332-618T>A (n.2332-618T>A) | |
2 | g.24823249C>A | CA346062586 | ADCY3 | c.2846G>T (p.Cys949Phe) c.2843G>T (p.Cys948Phe) n.115G>T c.1784G>T (p.Cys595Phe) c.2912G>T (p.Cys971Phe) c.2969G>T (p.Cys990Phe) c.2966G>T (p.Cys989Phe) c.2903G>T (p.Cys968Phe) c.2831G>T (p.Cys944Phe) c.2771G>T (p.Cys924Phe) c.2303G>T (p.Cys768Phe) c.2246G>T (p.Cys749Phe) c.2909G>T (p.Cys970Phe) c.2900G>T (p.Cys967Phe) c.2828G>T (p.Cys943Phe) c.2705G>T (p.Cys902Phe) c.2333G>T (p.Cys778Phe) c.2123G>T (p.Cys708Phe) c.2120G>T (p.Cys707Phe) c.2332-619G>T (n.2332-619G>T) | |
2 | g.24823249C>G | CA346062591 | ADCY3 | c.2846G>C (p.Cys949Ser) c.2843G>C (p.Cys948Ser) n.115G>C c.1784G>C (p.Cys595Ser) c.2912G>C (p.Cys971Ser) c.2969G>C (p.Cys990Ser) c.2966G>C (p.Cys989Ser) c.2903G>C (p.Cys968Ser) c.2831G>C (p.Cys944Ser) c.2771G>C (p.Cys924Ser) c.2303G>C (p.Cys768Ser) c.2246G>C (p.Cys749Ser) c.2909G>C (p.Cys970Ser) c.2900G>C (p.Cys967Ser) c.2828G>C (p.Cys943Ser) c.2705G>C (p.Cys902Ser) c.2333G>C (p.Cys778Ser) c.2123G>C (p.Cys708Ser) c.2120G>C (p.Cys707Ser) c.2332-619G>C (n.2332-619G>C) | |
2 | g.24823249C>T | CA346062589 | ADCY3 | c.2846G>A (p.Cys949Tyr) c.2843G>A (p.Cys948Tyr) n.115G>A c.1784G>A (p.Cys595Tyr) c.2912G>A (p.Cys971Tyr) c.2969G>A (p.Cys990Tyr) c.2966G>A (p.Cys989Tyr) c.2903G>A (p.Cys968Tyr) c.2831G>A (p.Cys944Tyr) c.2771G>A (p.Cys924Tyr) c.2303G>A (p.Cys768Tyr) c.2246G>A (p.Cys749Tyr) c.2909G>A (p.Cys970Tyr) c.2900G>A (p.Cys967Tyr) c.2828G>A (p.Cys943Tyr) c.2705G>A (p.Cys902Tyr) c.2333G>A (p.Cys778Tyr) c.2123G>A (p.Cys708Tyr) c.2120G>A (p.Cys707Tyr) c.2332-619G>A (n.2332-619G>A) | gnomAD v4 |
2 | g.24823251_24823254del | CA2576692130 | ADCY3 | c.2843_2846del (p.Glu948ValfsTer23) c.2840_2843del (p.Glu947ValfsTer23) n.112_115del c.1781_1784del (p.Glu594ValfsTer23) c.2909_2912del (p.Glu970ValfsTer23) c.2966_2969del (p.Glu989ValfsTer23) c.2963_2966del (p.Glu988ValfsTer23) c.2900_2903del (p.Glu967ValfsTer23) c.2828_2831del (p.Glu943ValfsTer23) c.2768_2771del (p.Glu923ValfsTer23) c.2300_2303del (p.Glu767ValfsTer23) c.2243_2246del (p.Glu748ValfsTer23) c.2906_2909del (p.Glu969ValfsTer23) c.2897_2900del (p.Glu966ValfsTer23) c.2825_2828del (p.Glu942ValfsTer23) c.2702_2705del (p.Glu901ValfsTer23) c.2330_2333del (p.Glu777ValfsTer23) c.2120_2123del (p.Glu707ValfsTer23) c.2117_2120del (p.Glu706ValfsTer23) c.2332-622_2332-619del (n.2332-622_2332-619del) | gnomAD v4 |
2 | g.24823250A>C | CA346062592 | ADCY3 | c.2845T>G (p.Cys949Gly) c.2842T>G (p.Cys948Gly) n.114T>G c.1783T>G (p.Cys595Gly) c.2911T>G (p.Cys971Gly) c.2968T>G (p.Cys990Gly) c.2965T>G (p.Cys989Gly) c.2902T>G (p.Cys968Gly) c.2830T>G (p.Cys944Gly) c.2770T>G (p.Cys924Gly) c.2302T>G (p.Cys768Gly) c.2245T>G (p.Cys749Gly) c.2908T>G (p.Cys970Gly) c.2899T>G (p.Cys967Gly) c.2827T>G (p.Cys943Gly) c.2704T>G (p.Cys902Gly) c.2332T>G (p.Cys778Gly) c.2122T>G (p.Cys708Gly) c.2119T>G (p.Cys707Gly) c.2332-620T>G (n.2332-620T>G) | |
2 | g.24823250A>G | CA346062595 | ADCY3 | c.2845T>C (p.Cys949Arg) c.2842T>C (p.Cys948Arg) n.114T>C c.1783T>C (p.Cys595Arg) c.2911T>C (p.Cys971Arg) c.2968T>C (p.Cys990Arg) c.2965T>C (p.Cys989Arg) c.2902T>C (p.Cys968Arg) c.2830T>C (p.Cys944Arg) c.2770T>C (p.Cys924Arg) c.2302T>C (p.Cys768Arg) c.2245T>C (p.Cys749Arg) c.2908T>C (p.Cys970Arg) c.2899T>C (p.Cys967Arg) c.2827T>C (p.Cys943Arg) c.2704T>C (p.Cys902Arg) c.2332T>C (p.Cys778Arg) c.2122T>C (p.Cys708Arg) c.2119T>C (p.Cys707Arg) c.2332-620T>C (n.2332-620T>C) | gnomAD v4 |
2 | g.24823250A>T | CA346062596 | ADCY3 | c.2845T>A (p.Cys949Ser) c.2842T>A (p.Cys948Ser) n.114T>A c.1783T>A (p.Cys595Ser) c.2911T>A (p.Cys971Ser) c.2968T>A (p.Cys990Ser) c.2965T>A (p.Cys989Ser) c.2902T>A (p.Cys968Ser) c.2830T>A (p.Cys944Ser) c.2770T>A (p.Cys924Ser) c.2302T>A (p.Cys768Ser) c.2245T>A (p.Cys749Ser) c.2908T>A (p.Cys970Ser) c.2899T>A (p.Cys967Ser) c.2827T>A (p.Cys943Ser) c.2704T>A (p.Cys902Ser) c.2332T>A (p.Cys778Ser) c.2122T>A (p.Cys708Ser) c.2119T>A (p.Cys707Ser) c.2332-620T>A (n.2332-620T>A) | |
2 | g.24823251C>A | CA346062597 | ADCY3 | c.2844G>T (p.Glu948Asp) c.2841G>T (p.Glu947Asp) n.113G>T c.1782G>T (p.Glu594Asp) c.2910G>T (p.Glu970Asp) c.2967G>T (p.Glu989Asp) c.2964G>T (p.Glu988Asp) c.2901G>T (p.Glu967Asp) c.2829G>T (p.Glu943Asp) c.2769G>T (p.Glu923Asp) c.2301G>T (p.Glu767Asp) c.2244G>T (p.Glu748Asp) c.2907G>T (p.Glu969Asp) c.2898G>T (p.Glu966Asp) c.2826G>T (p.Glu942Asp) c.2703G>T (p.Glu901Asp) c.2331G>T (p.Glu777Asp) c.2121G>T (p.Glu707Asp) c.2118G>T (p.Glu706Asp) c.2332-621G>T (n.2332-621G>T) | COSMIC |
2 | g.24823251C>G | CA346062598 | ADCY3 | c.2844G>C (p.Glu948Asp) c.2841G>C (p.Glu947Asp) n.113G>C c.1782G>C (p.Glu594Asp) c.2910G>C (p.Glu970Asp) c.2967G>C (p.Glu989Asp) c.2964G>C (p.Glu988Asp) c.2901G>C (p.Glu967Asp) c.2829G>C (p.Glu943Asp) c.2769G>C (p.Glu923Asp) c.2301G>C (p.Glu767Asp) c.2244G>C (p.Glu748Asp) c.2907G>C (p.Glu969Asp) c.2898G>C (p.Glu966Asp) c.2826G>C (p.Glu942Asp) c.2703G>C (p.Glu901Asp) c.2331G>C (p.Glu777Asp) c.2121G>C (p.Glu707Asp) c.2118G>C (p.Glu706Asp) c.2332-621G>C (n.2332-621G>C) | |
2 | g.24823251C>T | CA425171970 | ADCY3 | c.2844G>A (p.Glu948=) c.2841G>A (p.Glu947=) n.113G>A c.1782G>A (p.Glu594=) c.2910G>A (p.Glu970=) c.2967G>A (p.Glu989=) c.2964G>A (p.Glu988=) c.2901G>A (p.Glu967=) c.2829G>A (p.Glu943=) c.2769G>A (p.Glu923=) c.2301G>A (p.Glu767=) c.2244G>A (p.Glu748=) c.2907G>A (p.Glu969=) c.2898G>A (p.Glu966=) c.2826G>A (p.Glu942=) c.2703G>A (p.Glu901=) c.2331G>A (p.Glu777=) c.2121G>A (p.Glu707=) c.2118G>A (p.Glu706=) c.2332-621G>A (n.2332-621G>A) | |
2 | g.24823252T>A | CA346062600 | ADCY3 | c.2843A>T (p.Glu948Val) c.2840A>T (p.Glu947Val) n.112A>T c.1781A>T (p.Glu594Val) c.2909A>T (p.Glu970Val) c.2966A>T (p.Glu989Val) c.2963A>T (p.Glu988Val) c.2900A>T (p.Glu967Val) c.2828A>T (p.Glu943Val) c.2768A>T (p.Glu923Val) c.2300A>T (p.Glu767Val) c.2243A>T (p.Glu748Val) c.2906A>T (p.Glu969Val) c.2897A>T (p.Glu966Val) c.2825A>T (p.Glu942Val) c.2702A>T (p.Glu901Val) c.2330A>T (p.Glu777Val) c.2120A>T (p.Glu707Val) c.2117A>T (p.Glu706Val) c.2332-622A>T (n.2332-622A>T) | COSMIC |
2 | g.24823252T>C | CA346062601 | ADCY3 | c.2843A>G (p.Glu948Gly) c.2840A>G (p.Glu947Gly) n.112A>G c.1781A>G (p.Glu594Gly) c.2909A>G (p.Glu970Gly) c.2966A>G (p.Glu989Gly) c.2963A>G (p.Glu988Gly) c.2900A>G (p.Glu967Gly) c.2828A>G (p.Glu943Gly) c.2768A>G (p.Glu923Gly) c.2300A>G (p.Glu767Gly) c.2243A>G (p.Glu748Gly) c.2906A>G (p.Glu969Gly) c.2897A>G (p.Glu966Gly) c.2825A>G (p.Glu942Gly) c.2702A>G (p.Glu901Gly) c.2330A>G (p.Glu777Gly) c.2120A>G (p.Glu707Gly) c.2117A>G (p.Glu706Gly) c.2332-622A>G (n.2332-622A>G) | |
2 | g.24823252T>G | CA346062602 | ADCY3 | c.2843A>C (p.Glu948Ala) c.2840A>C (p.Glu947Ala) n.112A>C c.1781A>C (p.Glu594Ala) c.2909A>C (p.Glu970Ala) c.2966A>C (p.Glu989Ala) c.2963A>C (p.Glu988Ala) c.2900A>C (p.Glu967Ala) c.2828A>C (p.Glu943Ala) c.2768A>C (p.Glu923Ala) c.2300A>C (p.Glu767Ala) c.2243A>C (p.Glu748Ala) c.2906A>C (p.Glu969Ala) c.2897A>C (p.Glu966Ala) c.2825A>C (p.Glu942Ala) c.2702A>C (p.Glu901Ala) c.2330A>C (p.Glu777Ala) c.2120A>C (p.Glu707Ala) c.2117A>C (p.Glu706Ala) c.2332-622A>C (n.2332-622A>C) | |
2 | g.24823253C>A | CA346062604 | ADCY3 | c.2842G>T (p.Glu948Ter) c.2839G>T (p.Glu947Ter) n.111G>T c.1780G>T (p.Glu594Ter) c.2908G>T (p.Glu970Ter) c.2965G>T (p.Glu989Ter) c.2962G>T (p.Glu988Ter) c.2899G>T (p.Glu967Ter) c.2827G>T (p.Glu943Ter) c.2767G>T (p.Glu923Ter) c.2299G>T (p.Glu767Ter) c.2242G>T (p.Glu748Ter) c.2905G>T (p.Glu969Ter) c.2896G>T (p.Glu966Ter) c.2824G>T (p.Glu942Ter) c.2701G>T (p.Glu901Ter) c.2329G>T (p.Glu777Ter) c.2119G>T (p.Glu707Ter) c.2116G>T (p.Glu706Ter) c.2332-623G>T (n.2332-623G>T) | COSMIC |
2 | g.24823253C>G | CA346062606 | ADCY3 | c.2842G>C (p.Glu948Gln) c.2839G>C (p.Glu947Gln) n.111G>C c.1780G>C (p.Glu594Gln) c.2908G>C (p.Glu970Gln) c.2965G>C (p.Glu989Gln) c.2962G>C (p.Glu988Gln) c.2899G>C (p.Glu967Gln) c.2827G>C (p.Glu943Gln) c.2767G>C (p.Glu923Gln) c.2299G>C (p.Glu767Gln) c.2242G>C (p.Glu748Gln) c.2905G>C (p.Glu969Gln) c.2896G>C (p.Glu966Gln) c.2824G>C (p.Glu942Gln) c.2701G>C (p.Glu901Gln) c.2329G>C (p.Glu777Gln) c.2119G>C (p.Glu707Gln) c.2116G>C (p.Glu706Gln) c.2332-623G>C (n.2332-623G>C) | gnomAD v4 |
2 | g.24823253C>T | CA346062609 | ADCY3 | c.2842G>A (p.Glu948Lys) c.2839G>A (p.Glu947Lys) n.111G>A c.1780G>A (p.Glu594Lys) c.2908G>A (p.Glu970Lys) c.2965G>A (p.Glu989Lys) c.2962G>A (p.Glu988Lys) c.2899G>A (p.Glu967Lys) c.2827G>A (p.Glu943Lys) c.2767G>A (p.Glu923Lys) c.2299G>A (p.Glu767Lys) c.2242G>A (p.Glu748Lys) c.2905G>A (p.Glu969Lys) c.2896G>A (p.Glu966Lys) c.2824G>A (p.Glu942Lys) c.2701G>A (p.Glu901Lys) c.2329G>A (p.Glu777Lys) c.2119G>A (p.Glu707Lys) c.2116G>A (p.Glu706Lys) c.2332-623G>A (n.2332-623G>A) | |
2 | g.24823254A= | CA1239072277 | ADCY3 | c.2841T= (p.Ile947=) c.2838T= (p.Ile946=) n.110T= c.1779T= (p.Ile593=) c.2907T= (p.Ile969=) c.2964T= (p.Ile988=) c.2961T= (p.Ile987=) c.2898T= (p.Ile966=) c.2826T= (p.Ile942=) c.2766T= (p.Ile922=) c.2298T= (p.Ile766=) c.2241T= (p.Ile747=) c.2904T= (p.Ile968=) c.2895T= (p.Ile965=) c.2823T= (p.Ile941=) c.2700T= (p.Ile900=) c.2328T= (p.Ile776=) c.2118T= (p.Ile706=) c.2115T= (p.Ile705=) c.2332-624T= (n.2332-624T=) | |
2 | g.24823254A>C | CA346062613 | ADCY3 | c.2841T>G (p.Ile947Met) c.2838T>G (p.Ile946Met) n.110T>G c.1779T>G (p.Ile593Met) c.2907T>G (p.Ile969Met) c.2964T>G (p.Ile988Met) c.2961T>G (p.Ile987Met) c.2898T>G (p.Ile966Met) c.2826T>G (p.Ile942Met) c.2766T>G (p.Ile922Met) c.2298T>G (p.Ile766Met) c.2241T>G (p.Ile747Met) c.2904T>G (p.Ile968Met) c.2895T>G (p.Ile965Met) c.2823T>G (p.Ile941Met) c.2700T>G (p.Ile900Met) c.2328T>G (p.Ile776Met) c.2118T>G (p.Ile706Met) c.2115T>G (p.Ile705Met) c.2332-624T>G (n.2332-624T>G) | |
2 | g.24823254A>G | CA1553605 | ADCY3 | c.2841T>C (p.Ile947=) c.2838T>C (p.Ile946=) n.110T>C c.1779T>C (p.Ile593=) c.2907T>C (p.Ile969=) c.2964T>C (p.Ile988=) c.2961T>C (p.Ile987=) c.2898T>C (p.Ile966=) c.2826T>C (p.Ile942=) c.2766T>C (p.Ile922=) c.2298T>C (p.Ile766=) c.2241T>C (p.Ile747=) c.2904T>C (p.Ile968=) c.2895T>C (p.Ile965=) c.2823T>C (p.Ile941=) c.2700T>C (p.Ile900=) c.2328T>C (p.Ile776=) c.2118T>C (p.Ile706=) c.2115T>C (p.Ile705=) c.2332-624T>C (n.2332-624T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24823254A>T | CA1553606 | ADCY3 | c.2841T>A (p.Ile947=) c.2838T>A (p.Ile946=) n.110T>A c.1779T>A (p.Ile593=) c.2907T>A (p.Ile969=) c.2964T>A (p.Ile988=) c.2961T>A (p.Ile987=) c.2898T>A (p.Ile966=) c.2826T>A (p.Ile942=) c.2766T>A (p.Ile922=) c.2298T>A (p.Ile766=) c.2241T>A (p.Ile747=) c.2904T>A (p.Ile968=) c.2895T>A (p.Ile965=) c.2823T>A (p.Ile941=) c.2700T>A (p.Ile900=) c.2328T>A (p.Ile776=) c.2118T>A (p.Ile706=) c.2115T>A (p.Ile705=) c.2332-624T>A (n.2332-624T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823255A= | CA1239072278 | ADCY3 | c.2840T= (p.Ile947=) c.2837T= (p.Ile946=) n.109T= c.1778T= (p.Ile593=) c.2906T= (p.Ile969=) c.2963T= (p.Ile988=) c.2960T= (p.Ile987=) c.2897T= (p.Ile966=) c.2825T= (p.Ile942=) c.2765T= (p.Ile922=) c.2297T= (p.Ile766=) c.2240T= (p.Ile747=) c.2903T= (p.Ile968=) c.2894T= (p.Ile965=) c.2822T= (p.Ile941=) c.2699T= (p.Ile900=) c.2327T= (p.Ile776=) c.2117T= (p.Ile706=) c.2114T= (p.Ile705=) c.2332-625T= (n.2332-625T=) | |
2 | g.24823255A>C | CA346062617 | ADCY3 | c.2840T>G (p.Ile947Ser) c.2837T>G (p.Ile946Ser) n.109T>G c.1778T>G (p.Ile593Ser) c.2906T>G (p.Ile969Ser) c.2963T>G (p.Ile988Ser) c.2960T>G (p.Ile987Ser) c.2897T>G (p.Ile966Ser) c.2825T>G (p.Ile942Ser) c.2765T>G (p.Ile922Ser) c.2297T>G (p.Ile766Ser) c.2240T>G (p.Ile747Ser) c.2903T>G (p.Ile968Ser) c.2894T>G (p.Ile965Ser) c.2822T>G (p.Ile941Ser) c.2699T>G (p.Ile900Ser) c.2327T>G (p.Ile776Ser) c.2117T>G (p.Ile706Ser) c.2114T>G (p.Ile705Ser) c.2332-625T>G (n.2332-625T>G) | |
2 | g.24823255A>G | CA346062620 | ADCY3 | c.2840T>C (p.Ile947Thr) c.2837T>C (p.Ile946Thr) n.109T>C c.1778T>C (p.Ile593Thr) c.2906T>C (p.Ile969Thr) c.2963T>C (p.Ile988Thr) c.2960T>C (p.Ile987Thr) c.2897T>C (p.Ile966Thr) c.2825T>C (p.Ile942Thr) c.2765T>C (p.Ile922Thr) c.2297T>C (p.Ile766Thr) c.2240T>C (p.Ile747Thr) c.2903T>C (p.Ile968Thr) c.2894T>C (p.Ile965Thr) c.2822T>C (p.Ile941Thr) c.2699T>C (p.Ile900Thr) c.2327T>C (p.Ile776Thr) c.2117T>C (p.Ile706Thr) c.2114T>C (p.Ile705Thr) c.2332-625T>C (n.2332-625T>C) | dbSNP gnomAD v2 |
2 | g.24823255A>T | CA346062619 | ADCY3 | c.2840T>A (p.Ile947Asn) c.2837T>A (p.Ile946Asn) n.109T>A c.1778T>A (p.Ile593Asn) c.2906T>A (p.Ile969Asn) c.2963T>A (p.Ile988Asn) c.2960T>A (p.Ile987Asn) c.2897T>A (p.Ile966Asn) c.2825T>A (p.Ile942Asn) c.2765T>A (p.Ile922Asn) c.2297T>A (p.Ile766Asn) c.2240T>A (p.Ile747Asn) c.2903T>A (p.Ile968Asn) c.2894T>A (p.Ile965Asn) c.2822T>A (p.Ile941Asn) c.2699T>A (p.Ile900Asn) c.2327T>A (p.Ile776Asn) c.2117T>A (p.Ile706Asn) c.2114T>A (p.Ile705Asn) c.2332-625T>A (n.2332-625T>A) | |
2 | g.24823256T>A | CA346062623 | ADCY3 | c.2839A>T (p.Ile947Phe) c.2836A>T (p.Ile946Phe) n.108A>T c.1777A>T (p.Ile593Phe) c.2905A>T (p.Ile969Phe) c.2962A>T (p.Ile988Phe) c.2959A>T (p.Ile987Phe) c.2896A>T (p.Ile966Phe) c.2824A>T (p.Ile942Phe) c.2764A>T (p.Ile922Phe) c.2296A>T (p.Ile766Phe) c.2239A>T (p.Ile747Phe) c.2902A>T (p.Ile968Phe) c.2893A>T (p.Ile965Phe) c.2821A>T (p.Ile941Phe) c.2698A>T (p.Ile900Phe) c.2326A>T (p.Ile776Phe) c.2116A>T (p.Ile706Phe) c.2113A>T (p.Ile705Phe) c.2332-626A>T (n.2332-626A>T) | |
2 | g.24823256T>C | CA346062627 | ADCY3 | c.2839A>G (p.Ile947Val) c.2836A>G (p.Ile946Val) n.108A>G c.1777A>G (p.Ile593Val) c.2905A>G (p.Ile969Val) c.2962A>G (p.Ile988Val) c.2959A>G (p.Ile987Val) c.2896A>G (p.Ile966Val) c.2824A>G (p.Ile942Val) c.2764A>G (p.Ile922Val) c.2296A>G (p.Ile766Val) c.2239A>G (p.Ile747Val) c.2902A>G (p.Ile968Val) c.2893A>G (p.Ile965Val) c.2821A>G (p.Ile941Val) c.2698A>G (p.Ile900Val) c.2326A>G (p.Ile776Val) c.2116A>G (p.Ile706Val) c.2113A>G (p.Ile705Val) c.2332-626A>G (n.2332-626A>G) | |
2 | g.24823256T>G | CA346062626 | ADCY3 | c.2839A>C (p.Ile947Leu) c.2836A>C (p.Ile946Leu) n.108A>C c.1777A>C (p.Ile593Leu) c.2905A>C (p.Ile969Leu) c.2962A>C (p.Ile988Leu) c.2959A>C (p.Ile987Leu) c.2896A>C (p.Ile966Leu) c.2824A>C (p.Ile942Leu) c.2764A>C (p.Ile922Leu) c.2296A>C (p.Ile766Leu) c.2239A>C (p.Ile747Leu) c.2902A>C (p.Ile968Leu) c.2893A>C (p.Ile965Leu) c.2821A>C (p.Ile941Leu) c.2698A>C (p.Ile900Leu) c.2326A>C (p.Ile776Leu) c.2116A>C (p.Ile706Leu) c.2113A>C (p.Ile705Leu) c.2332-626A>C (n.2332-626A>C) | |
2 | g.24823256dup | CA2576692131 | ADCY3 | c.2839dup (p.Ile947AsnfsTer2) c.2836dup (p.Ile946AsnfsTer2) n.108dup c.1777dup (p.Ile593AsnfsTer2) c.2905dup (p.Ile969AsnfsTer2) c.2962dup (p.Ile988AsnfsTer2) c.2959dup (p.Ile987AsnfsTer2) c.2896dup (p.Ile966AsnfsTer2) c.2824dup (p.Ile942AsnfsTer2) c.2764dup (p.Ile922AsnfsTer2) c.2296dup (p.Ile766AsnfsTer2) c.2239dup (p.Ile747AsnfsTer2) c.2902dup (p.Ile968AsnfsTer2) c.2893dup (p.Ile965AsnfsTer2) c.2821dup (p.Ile941AsnfsTer2) c.2698dup (p.Ile900AsnfsTer2) c.2326dup (p.Ile776AsnfsTer2) c.2116dup (p.Ile706AsnfsTer2) c.2113dup (p.Ile705AsnfsTer2) c.2332-626dup (n.2332-626dup) | |
2 | g.24823257A>C | CA425171977 | ADCY3 | c.2838T>G (p.Gly946=) c.2835T>G (p.Gly945=) n.107T>G c.1776T>G (p.Gly592=) c.2904T>G (p.Gly968=) c.2961T>G (p.Gly987=) c.2958T>G (p.Gly986=) c.2895T>G (p.Gly965=) c.2823T>G (p.Gly941=) c.2763T>G (p.Gly921=) c.2295T>G (p.Gly765=) c.2238T>G (p.Gly746=) c.2901T>G (p.Gly967=) c.2892T>G (p.Gly964=) c.2820T>G (p.Gly940=) c.2697T>G (p.Gly899=) c.2325T>G (p.Gly775=) c.2115T>G (p.Gly705=) c.2112T>G (p.Gly704=) c.2332-627T>G (n.2332-627T>G) | |
2 | g.24823257A>G | CA425171978 | ADCY3 | c.2838T>C (p.Gly946=) c.2835T>C (p.Gly945=) n.107T>C c.1776T>C (p.Gly592=) c.2904T>C (p.Gly968=) c.2961T>C (p.Gly987=) c.2958T>C (p.Gly986=) c.2895T>C (p.Gly965=) c.2823T>C (p.Gly941=) c.2763T>C (p.Gly921=) c.2295T>C (p.Gly765=) c.2238T>C (p.Gly746=) c.2901T>C (p.Gly967=) c.2892T>C (p.Gly964=) c.2820T>C (p.Gly940=) c.2697T>C (p.Gly899=) c.2325T>C (p.Gly775=) c.2115T>C (p.Gly705=) c.2112T>C (p.Gly704=) c.2332-627T>C (n.2332-627T>C) | |
2 | g.24823257A>T | CA425171976 | ADCY3 | c.2838T>A (p.Gly946=) c.2835T>A (p.Gly945=) n.107T>A c.1776T>A (p.Gly592=) c.2904T>A (p.Gly968=) c.2961T>A (p.Gly987=) c.2958T>A (p.Gly986=) c.2895T>A (p.Gly965=) c.2823T>A (p.Gly941=) c.2763T>A (p.Gly921=) c.2295T>A (p.Gly765=) c.2238T>A (p.Gly746=) c.2901T>A (p.Gly967=) c.2892T>A (p.Gly964=) c.2820T>A (p.Gly940=) c.2697T>A (p.Gly899=) c.2325T>A (p.Gly775=) c.2115T>A (p.Gly705=) c.2112T>A (p.Gly704=) c.2332-627T>A (n.2332-627T>A) | |
2 | g.24823258C>A | CA346062630 | ADCY3 | c.2837G>T (p.Gly946Val) c.2834G>T (p.Gly945Val) n.106G>T c.1775G>T (p.Gly592Val) c.2903G>T (p.Gly968Val) c.2960G>T (p.Gly987Val) c.2957G>T (p.Gly986Val) c.2894G>T (p.Gly965Val) c.2822G>T (p.Gly941Val) c.2762G>T (p.Gly921Val) c.2294G>T (p.Gly765Val) c.2237G>T (p.Gly746Val) c.2900G>T (p.Gly967Val) c.2891G>T (p.Gly964Val) c.2819G>T (p.Gly940Val) c.2696G>T (p.Gly899Val) c.2324G>T (p.Gly775Val) c.2114G>T (p.Gly705Val) c.2111G>T (p.Gly704Val) c.2332-628G>T (n.2332-628G>T) | |
2 | g.24823258C>G | CA346062633 | ADCY3 | c.2837G>C (p.Gly946Ala) c.2834G>C (p.Gly945Ala) n.106G>C c.1775G>C (p.Gly592Ala) c.2903G>C (p.Gly968Ala) c.2960G>C (p.Gly987Ala) c.2957G>C (p.Gly986Ala) c.2894G>C (p.Gly965Ala) c.2822G>C (p.Gly941Ala) c.2762G>C (p.Gly921Ala) c.2294G>C (p.Gly765Ala) c.2237G>C (p.Gly746Ala) c.2900G>C (p.Gly967Ala) c.2891G>C (p.Gly964Ala) c.2819G>C (p.Gly940Ala) c.2696G>C (p.Gly899Ala) c.2324G>C (p.Gly775Ala) c.2114G>C (p.Gly705Ala) c.2111G>C (p.Gly704Ala) c.2332-628G>C (n.2332-628G>C) | |
2 | g.24823258C>T | CA346062635 | ADCY3 | c.2837G>A (p.Gly946Asp) c.2834G>A (p.Gly945Asp) n.106G>A c.1775G>A (p.Gly592Asp) c.2903G>A (p.Gly968Asp) c.2960G>A (p.Gly987Asp) c.2957G>A (p.Gly986Asp) c.2894G>A (p.Gly965Asp) c.2822G>A (p.Gly941Asp) c.2762G>A (p.Gly921Asp) c.2294G>A (p.Gly765Asp) c.2237G>A (p.Gly746Asp) c.2900G>A (p.Gly967Asp) c.2891G>A (p.Gly964Asp) c.2819G>A (p.Gly940Asp) c.2696G>A (p.Gly899Asp) c.2324G>A (p.Gly775Asp) c.2114G>A (p.Gly705Asp) c.2111G>A (p.Gly704Asp) c.2332-628G>A (n.2332-628G>A) | |
2 | g.24823259C>A | CA346062638 | ADCY3 | c.2836G>T (p.Gly946Cys) c.2833G>T (p.Gly945Cys) n.105G>T c.1774G>T (p.Gly592Cys) c.2902G>T (p.Gly968Cys) c.2959G>T (p.Gly987Cys) c.2956G>T (p.Gly986Cys) c.2893G>T (p.Gly965Cys) c.2821G>T (p.Gly941Cys) c.2761G>T (p.Gly921Cys) c.2293G>T (p.Gly765Cys) c.2236G>T (p.Gly746Cys) c.2899G>T (p.Gly967Cys) c.2890G>T (p.Gly964Cys) c.2818G>T (p.Gly940Cys) c.2695G>T (p.Gly899Cys) c.2323G>T (p.Gly775Cys) c.2113G>T (p.Gly705Cys) c.2110G>T (p.Gly704Cys) c.2332-629G>T (n.2332-629G>T) | |
2 | g.24823259C>G | CA346062640 | ADCY3 | c.2836G>C (p.Gly946Arg) c.2833G>C (p.Gly945Arg) n.105G>C c.1774G>C (p.Gly592Arg) c.2902G>C (p.Gly968Arg) c.2959G>C (p.Gly987Arg) c.2956G>C (p.Gly986Arg) c.2893G>C (p.Gly965Arg) c.2821G>C (p.Gly941Arg) c.2761G>C (p.Gly921Arg) c.2293G>C (p.Gly765Arg) c.2236G>C (p.Gly746Arg) c.2899G>C (p.Gly967Arg) c.2890G>C (p.Gly964Arg) c.2818G>C (p.Gly940Arg) c.2695G>C (p.Gly899Arg) c.2323G>C (p.Gly775Arg) c.2113G>C (p.Gly705Arg) c.2110G>C (p.Gly704Arg) c.2332-629G>C (n.2332-629G>C) | |
2 | g.24823259C>T | CA346062643 | ADCY3 | c.2836G>A (p.Gly946Ser) c.2833G>A (p.Gly945Ser) n.105G>A c.1774G>A (p.Gly592Ser) c.2902G>A (p.Gly968Ser) c.2959G>A (p.Gly987Ser) c.2956G>A (p.Gly986Ser) c.2893G>A (p.Gly965Ser) c.2821G>A (p.Gly941Ser) c.2761G>A (p.Gly921Ser) c.2293G>A (p.Gly765Ser) c.2236G>A (p.Gly746Ser) c.2899G>A (p.Gly967Ser) c.2890G>A (p.Gly964Ser) c.2818G>A (p.Gly940Ser) c.2695G>A (p.Gly899Ser) c.2323G>A (p.Gly775Ser) c.2113G>A (p.Gly705Ser) c.2110G>A (p.Gly704Ser) c.2332-629G>A (n.2332-629G>A) | |
2 | g.24823260A= | CA1239072279 | ADCY3 | c.2835T= (p.Gly945=) c.2832T= (p.Gly944=) n.104T= c.1773T= (p.Gly591=) c.2901T= (p.Gly967=) c.2958T= (p.Gly986=) c.2955T= (p.Gly985=) c.2892T= (p.Gly964=) c.2820T= (p.Gly940=) c.2760T= (p.Gly920=) c.2292T= (p.Gly764=) c.2235T= (p.Gly745=) c.2898T= (p.Gly966=) c.2889T= (p.Gly963=) c.2817T= (p.Gly939=) c.2694T= (p.Gly898=) c.2322T= (p.Gly774=) c.2112T= (p.Gly704=) c.2109T= (p.Gly703=) c.2332-630T= (n.2332-630T=) | |
2 | g.24823260A>C | CA425171982 | ADCY3 | c.2835T>G (p.Gly945=) c.2832T>G (p.Gly944=) n.104T>G c.1773T>G (p.Gly591=) c.2901T>G (p.Gly967=) c.2958T>G (p.Gly986=) c.2955T>G (p.Gly985=) c.2892T>G (p.Gly964=) c.2820T>G (p.Gly940=) c.2760T>G (p.Gly920=) c.2292T>G (p.Gly764=) c.2235T>G (p.Gly745=) c.2898T>G (p.Gly966=) c.2889T>G (p.Gly963=) c.2817T>G (p.Gly939=) c.2694T>G (p.Gly898=) c.2322T>G (p.Gly774=) c.2112T>G (p.Gly704=) c.2109T>G (p.Gly703=) c.2332-630T>G (n.2332-630T>G) | gnomAD v4 |
2 | g.24823260A>G | CA43682436 | ADCY3 | c.2835T>C (p.Gly945=) c.2832T>C (p.Gly944=) n.104T>C c.1773T>C (p.Gly591=) c.2901T>C (p.Gly967=) c.2958T>C (p.Gly986=) c.2955T>C (p.Gly985=) c.2892T>C (p.Gly964=) c.2820T>C (p.Gly940=) c.2760T>C (p.Gly920=) c.2292T>C (p.Gly764=) c.2235T>C (p.Gly745=) c.2898T>C (p.Gly966=) c.2889T>C (p.Gly963=) c.2817T>C (p.Gly939=) c.2694T>C (p.Gly898=) c.2322T>C (p.Gly774=) c.2112T>C (p.Gly704=) c.2109T>C (p.Gly703=) c.2332-630T>C (n.2332-630T>C) | dbSNP gnomAD v4 |
2 | g.24823260A>T | CA425171983 | ADCY3 | c.2835T>A (p.Gly945=) c.2832T>A (p.Gly944=) n.104T>A c.1773T>A (p.Gly591=) c.2901T>A (p.Gly967=) c.2958T>A (p.Gly986=) c.2955T>A (p.Gly985=) c.2892T>A (p.Gly964=) c.2820T>A (p.Gly940=) c.2760T>A (p.Gly920=) c.2292T>A (p.Gly764=) c.2235T>A (p.Gly745=) c.2898T>A (p.Gly966=) c.2889T>A (p.Gly963=) c.2817T>A (p.Gly939=) c.2694T>A (p.Gly898=) c.2322T>A (p.Gly774=) c.2112T>A (p.Gly704=) c.2109T>A (p.Gly703=) c.2332-630T>A (n.2332-630T>A) | |
2 | g.24823261C>A | CA346062645 | ADCY3 | c.2834G>T (p.Gly945Val) c.2831G>T (p.Gly944Val) n.103G>T c.1772G>T (p.Gly591Val) c.2900G>T (p.Gly967Val) c.2957G>T (p.Gly986Val) c.2954G>T (p.Gly985Val) c.2891G>T (p.Gly964Val) c.2819G>T (p.Gly940Val) c.2759G>T (p.Gly920Val) c.2291G>T (p.Gly764Val) c.2234G>T (p.Gly745Val) c.2897G>T (p.Gly966Val) c.2888G>T (p.Gly963Val) c.2816G>T (p.Gly939Val) c.2693G>T (p.Gly898Val) c.2321G>T (p.Gly774Val) c.2111G>T (p.Gly704Val) c.2108G>T (p.Gly703Val) c.2332-631G>T (n.2332-631G>T) | |
2 | g.24823261C= | CA1239072280 | ADCY3 | c.2834G= (p.Gly945=) c.2831G= (p.Gly944=) n.103G= c.1772G= (p.Gly591=) c.2900G= (p.Gly967=) c.2957G= (p.Gly986=) c.2954G= (p.Gly985=) c.2891G= (p.Gly964=) c.2819G= (p.Gly940=) c.2759G= (p.Gly920=) c.2291G= (p.Gly764=) c.2234G= (p.Gly745=) c.2897G= (p.Gly966=) c.2888G= (p.Gly963=) c.2816G= (p.Gly939=) c.2693G= (p.Gly898=) c.2321G= (p.Gly774=) c.2111G= (p.Gly704=) c.2108G= (p.Gly703=) c.2332-631G= (n.2332-631G=) | |
2 | g.24823261C>G | CA346062648 | ADCY3 | c.2834G>C (p.Gly945Ala) c.2831G>C (p.Gly944Ala) n.103G>C c.1772G>C (p.Gly591Ala) c.2900G>C (p.Gly967Ala) c.2957G>C (p.Gly986Ala) c.2954G>C (p.Gly985Ala) c.2891G>C (p.Gly964Ala) c.2819G>C (p.Gly940Ala) c.2759G>C (p.Gly920Ala) c.2291G>C (p.Gly764Ala) c.2234G>C (p.Gly745Ala) c.2897G>C (p.Gly966Ala) c.2888G>C (p.Gly963Ala) c.2816G>C (p.Gly939Ala) c.2693G>C (p.Gly898Ala) c.2321G>C (p.Gly774Ala) c.2111G>C (p.Gly704Ala) c.2108G>C (p.Gly703Ala) c.2332-631G>C (n.2332-631G>C) | |
2 | g.24823261C>T | CA346062650 | ADCY3 | c.2834G>A (p.Gly945Asp) c.2831G>A (p.Gly944Asp) n.103G>A c.1772G>A (p.Gly591Asp) c.2900G>A (p.Gly967Asp) c.2957G>A (p.Gly986Asp) c.2954G>A (p.Gly985Asp) c.2891G>A (p.Gly964Asp) c.2819G>A (p.Gly940Asp) c.2759G>A (p.Gly920Asp) c.2291G>A (p.Gly764Asp) c.2234G>A (p.Gly745Asp) c.2897G>A (p.Gly966Asp) c.2888G>A (p.Gly963Asp) c.2816G>A (p.Gly939Asp) c.2693G>A (p.Gly898Asp) c.2321G>A (p.Gly774Asp) c.2111G>A (p.Gly704Asp) c.2108G>A (p.Gly703Asp) c.2332-631G>A (n.2332-631G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24823262C>A | CA346062654 | ADCY3 | c.2833G>T (p.Gly945Cys) c.2830G>T (p.Gly944Cys) n.102G>T c.1771G>T (p.Gly591Cys) c.2899G>T (p.Gly967Cys) c.2956G>T (p.Gly986Cys) c.2953G>T (p.Gly985Cys) c.2890G>T (p.Gly964Cys) c.2818G>T (p.Gly940Cys) c.2758G>T (p.Gly920Cys) c.2290G>T (p.Gly764Cys) c.2233G>T (p.Gly745Cys) c.2896G>T (p.Gly966Cys) c.2887G>T (p.Gly963Cys) c.2815G>T (p.Gly939Cys) c.2692G>T (p.Gly898Cys) c.2320G>T (p.Gly774Cys) c.2110G>T (p.Gly704Cys) c.2107G>T (p.Gly703Cys) c.2332-632G>T (n.2332-632G>T) | |
2 | g.24823262C>G | CA346062653 | ADCY3 | c.2833G>C (p.Gly945Arg) c.2830G>C (p.Gly944Arg) n.102G>C c.1771G>C (p.Gly591Arg) c.2899G>C (p.Gly967Arg) c.2956G>C (p.Gly986Arg) c.2953G>C (p.Gly985Arg) c.2890G>C (p.Gly964Arg) c.2818G>C (p.Gly940Arg) c.2758G>C (p.Gly920Arg) c.2290G>C (p.Gly764Arg) c.2233G>C (p.Gly745Arg) c.2896G>C (p.Gly966Arg) c.2887G>C (p.Gly963Arg) c.2815G>C (p.Gly939Arg) c.2692G>C (p.Gly898Arg) c.2320G>C (p.Gly774Arg) c.2110G>C (p.Gly704Arg) c.2107G>C (p.Gly703Arg) c.2332-632G>C (n.2332-632G>C) | |
2 | g.24823262C>T | CA346062651 | ADCY3 | c.2833G>A (p.Gly945Ser) c.2830G>A (p.Gly944Ser) n.102G>A c.1771G>A (p.Gly591Ser) c.2899G>A (p.Gly967Ser) c.2956G>A (p.Gly986Ser) c.2953G>A (p.Gly985Ser) c.2890G>A (p.Gly964Ser) c.2818G>A (p.Gly940Ser) c.2758G>A (p.Gly920Ser) c.2290G>A (p.Gly764Ser) c.2233G>A (p.Gly745Ser) c.2896G>A (p.Gly966Ser) c.2887G>A (p.Gly963Ser) c.2815G>A (p.Gly939Ser) c.2692G>A (p.Gly898Ser) c.2320G>A (p.Gly774Ser) c.2110G>A (p.Gly704Ser) c.2107G>A (p.Gly703Ser) c.2332-632G>A (n.2332-632G>A) | |
2 | g.24823263A= | CA1239072281 | ADCY3 | c.2832T= (p.Asn944=) c.2829T= (p.Asn943=) n.101T= c.1770T= (p.Asn590=) c.2898T= (p.Asn966=) c.2955T= (p.Asn985=) c.2952T= (p.Asn984=) c.2889T= (p.Asn963=) c.2817T= (p.Asn939=) c.2757T= (p.Asn919=) c.2289T= (p.Asn763=) c.2232T= (p.Asn744=) c.2895T= (p.Asn965=) c.2886T= (p.Asn962=) c.2814T= (p.Asn938=) c.2691T= (p.Asn897=) c.2319T= (p.Asn773=) c.2109T= (p.Asn703=) c.2106T= (p.Asn702=) c.2332-633T= (n.2332-633T=) | |
2 | g.24823263A>C | CA346062656 | ADCY3 | c.2832T>G (p.Asn944Lys) c.2829T>G (p.Asn943Lys) n.101T>G c.1770T>G (p.Asn590Lys) c.2898T>G (p.Asn966Lys) c.2955T>G (p.Asn985Lys) c.2952T>G (p.Asn984Lys) c.2889T>G (p.Asn963Lys) c.2817T>G (p.Asn939Lys) c.2757T>G (p.Asn919Lys) c.2289T>G (p.Asn763Lys) c.2232T>G (p.Asn744Lys) c.2895T>G (p.Asn965Lys) c.2886T>G (p.Asn962Lys) c.2814T>G (p.Asn938Lys) c.2691T>G (p.Asn897Lys) c.2319T>G (p.Asn773Lys) c.2109T>G (p.Asn703Lys) c.2106T>G (p.Asn702Lys) c.2332-633T>G (n.2332-633T>G) | |
2 | g.24823263A>G | CA1553607 | ADCY3 | c.2832T>C (p.Asn944=) c.2829T>C (p.Asn943=) n.101T>C c.1770T>C (p.Asn590=) c.2898T>C (p.Asn966=) c.2955T>C (p.Asn985=) c.2952T>C (p.Asn984=) c.2889T>C (p.Asn963=) c.2817T>C (p.Asn939=) c.2757T>C (p.Asn919=) c.2289T>C (p.Asn763=) c.2232T>C (p.Asn744=) c.2895T>C (p.Asn965=) c.2886T>C (p.Asn962=) c.2814T>C (p.Asn938=) c.2691T>C (p.Asn897=) c.2319T>C (p.Asn773=) c.2109T>C (p.Asn703=) c.2106T>C (p.Asn702=) c.2332-633T>C (n.2332-633T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24823263A>T | CA346062660 | ADCY3 | c.2832T>A (p.Asn944Lys) c.2829T>A (p.Asn943Lys) n.101T>A c.1770T>A (p.Asn590Lys) c.2898T>A (p.Asn966Lys) c.2955T>A (p.Asn985Lys) c.2952T>A (p.Asn984Lys) c.2889T>A (p.Asn963Lys) c.2817T>A (p.Asn939Lys) c.2757T>A (p.Asn919Lys) c.2289T>A (p.Asn763Lys) c.2232T>A (p.Asn744Lys) c.2895T>A (p.Asn965Lys) c.2886T>A (p.Asn962Lys) c.2814T>A (p.Asn938Lys) c.2691T>A (p.Asn897Lys) c.2319T>A (p.Asn773Lys) c.2109T>A (p.Asn703Lys) c.2106T>A (p.Asn702Lys) c.2332-633T>A (n.2332-633T>A) | |
2 | g.24823264T>A | CA346062662 | ADCY3 | c.2831A>T (p.Asn944Ile) c.2828A>T (p.Asn943Ile) n.100A>T c.1769A>T (p.Asn590Ile) c.2897A>T (p.Asn966Ile) c.2954A>T (p.Asn985Ile) c.2951A>T (p.Asn984Ile) c.2888A>T (p.Asn963Ile) c.2816A>T (p.Asn939Ile) c.2756A>T (p.Asn919Ile) c.2288A>T (p.Asn763Ile) c.2231A>T (p.Asn744Ile) c.2894A>T (p.Asn965Ile) c.2885A>T (p.Asn962Ile) c.2813A>T (p.Asn938Ile) c.2690A>T (p.Asn897Ile) c.2318A>T (p.Asn773Ile) c.2108A>T (p.Asn703Ile) c.2105A>T (p.Asn702Ile) c.2332-634A>T (n.2332-634A>T) | |
2 | g.24823264T>C | CA346062664 | ADCY3 | c.2831A>G (p.Asn944Ser) c.2828A>G (p.Asn943Ser) n.100A>G c.1769A>G (p.Asn590Ser) c.2897A>G (p.Asn966Ser) c.2954A>G (p.Asn985Ser) c.2951A>G (p.Asn984Ser) c.2888A>G (p.Asn963Ser) c.2816A>G (p.Asn939Ser) c.2756A>G (p.Asn919Ser) c.2288A>G (p.Asn763Ser) c.2231A>G (p.Asn744Ser) c.2894A>G (p.Asn965Ser) c.2885A>G (p.Asn962Ser) c.2813A>G (p.Asn938Ser) c.2690A>G (p.Asn897Ser) c.2318A>G (p.Asn773Ser) c.2108A>G (p.Asn703Ser) c.2105A>G (p.Asn702Ser) c.2332-634A>G (n.2332-634A>G) | gnomAD v4 |
2 | g.24823264T>G | CA346062665 | ADCY3 | c.2831A>C (p.Asn944Thr) c.2828A>C (p.Asn943Thr) n.100A>C c.1769A>C (p.Asn590Thr) c.2897A>C (p.Asn966Thr) c.2954A>C (p.Asn985Thr) c.2951A>C (p.Asn984Thr) c.2888A>C (p.Asn963Thr) c.2816A>C (p.Asn939Thr) c.2756A>C (p.Asn919Thr) c.2288A>C (p.Asn763Thr) c.2231A>C (p.Asn744Thr) c.2894A>C (p.Asn965Thr) c.2885A>C (p.Asn962Thr) c.2813A>C (p.Asn938Thr) c.2690A>C (p.Asn897Thr) c.2318A>C (p.Asn773Thr) c.2108A>C (p.Asn703Thr) c.2105A>C (p.Asn702Thr) c.2332-634A>C (n.2332-634A>C) | |
2 | g.24823265T>A | CA346062668 | ADCY3 | c.2830A>T (p.Asn944Tyr) c.2827A>T (p.Asn943Tyr) n.99A>T c.1768A>T (p.Asn590Tyr) c.2896A>T (p.Asn966Tyr) c.2953A>T (p.Asn985Tyr) c.2950A>T (p.Asn984Tyr) c.2887A>T (p.Asn963Tyr) c.2815A>T (p.Asn939Tyr) c.2755A>T (p.Asn919Tyr) c.2287A>T (p.Asn763Tyr) c.2230A>T (p.Asn744Tyr) c.2893A>T (p.Asn965Tyr) c.2884A>T (p.Asn962Tyr) c.2812A>T (p.Asn938Tyr) c.2689A>T (p.Asn897Tyr) c.2317A>T (p.Asn773Tyr) c.2107A>T (p.Asn703Tyr) c.2104A>T (p.Asn702Tyr) c.2332-635A>T (n.2332-635A>T) | |
2 | g.24823265T>C | CA346062669 | ADCY3 | c.2830A>G (p.Asn944Asp) c.2827A>G (p.Asn943Asp) n.99A>G c.1768A>G (p.Asn590Asp) c.2896A>G (p.Asn966Asp) c.2953A>G (p.Asn985Asp) c.2950A>G (p.Asn984Asp) c.2887A>G (p.Asn963Asp) c.2815A>G (p.Asn939Asp) c.2755A>G (p.Asn919Asp) c.2287A>G (p.Asn763Asp) c.2230A>G (p.Asn744Asp) c.2893A>G (p.Asn965Asp) c.2884A>G (p.Asn962Asp) c.2812A>G (p.Asn938Asp) c.2689A>G (p.Asn897Asp) c.2317A>G (p.Asn773Asp) c.2107A>G (p.Asn703Asp) c.2104A>G (p.Asn702Asp) c.2332-635A>G (n.2332-635A>G) | |
2 | g.24823265T>G | CA346062671 | ADCY3 | c.2830A>C (p.Asn944His) c.2827A>C (p.Asn943His) n.99A>C c.1768A>C (p.Asn590His) c.2896A>C (p.Asn966His) c.2953A>C (p.Asn985His) c.2950A>C (p.Asn984His) c.2887A>C (p.Asn963His) c.2815A>C (p.Asn939His) c.2755A>C (p.Asn919His) c.2287A>C (p.Asn763His) c.2230A>C (p.Asn744His) c.2893A>C (p.Asn965His) c.2884A>C (p.Asn962His) c.2812A>C (p.Asn938His) c.2689A>C (p.Asn897His) c.2317A>C (p.Asn773His) c.2107A>C (p.Asn703His) c.2104A>C (p.Asn702His) c.2332-635A>C (n.2332-635A>C) | |
2 | g.24823266G>A | CA425171985 | ADCY3 | c.2829C>T (p.Asn943=) c.2826C>T (p.Asn942=) n.98C>T c.1767C>T (p.Asn589=) c.2895C>T (p.Asn965=) c.2952C>T (p.Asn984=) c.2949C>T (p.Asn983=) c.2886C>T (p.Asn962=) c.2814C>T (p.Asn938=) c.2754C>T (p.Asn918=) c.2286C>T (p.Asn762=) c.2229C>T (p.Asn743=) c.2892C>T (p.Asn964=) c.2883C>T (p.Asn961=) c.2811C>T (p.Asn937=) c.2688C>T (p.Asn896=) c.2316C>T (p.Asn772=) c.2106C>T (p.Asn702=) c.2103C>T (p.Asn701=) c.2332-636C>T (n.2332-636C>T) | dbSNP gnomAD v4 |
2 | g.24823266G>C | CA346062672 | ADCY3 | c.2829C>G (p.Asn943Lys) c.2826C>G (p.Asn942Lys) n.98C>G c.1767C>G (p.Asn589Lys) c.2895C>G (p.Asn965Lys) c.2952C>G (p.Asn984Lys) c.2949C>G (p.Asn983Lys) c.2886C>G (p.Asn962Lys) c.2814C>G (p.Asn938Lys) c.2754C>G (p.Asn918Lys) c.2286C>G (p.Asn762Lys) c.2229C>G (p.Asn743Lys) c.2892C>G (p.Asn964Lys) c.2883C>G (p.Asn961Lys) c.2811C>G (p.Asn937Lys) c.2688C>G (p.Asn896Lys) c.2316C>G (p.Asn772Lys) c.2106C>G (p.Asn702Lys) c.2103C>G (p.Asn701Lys) c.2332-636C>G (n.2332-636C>G) | |
2 | g.24823266G>T | CA346062674 | ADCY3 | c.2829C>A (p.Asn943Lys) c.2826C>A (p.Asn942Lys) n.98C>A c.1767C>A (p.Asn589Lys) c.2895C>A (p.Asn965Lys) c.2952C>A (p.Asn984Lys) c.2949C>A (p.Asn983Lys) c.2886C>A (p.Asn962Lys) c.2814C>A (p.Asn938Lys) c.2754C>A (p.Asn918Lys) c.2286C>A (p.Asn762Lys) c.2229C>A (p.Asn743Lys) c.2892C>A (p.Asn964Lys) c.2883C>A (p.Asn961Lys) c.2811C>A (p.Asn937Lys) c.2688C>A (p.Asn896Lys) c.2316C>A (p.Asn772Lys) c.2106C>A (p.Asn702Lys) c.2103C>A (p.Asn701Lys) c.2332-636C>A (n.2332-636C>A) | |
2 | g.24823267T>A | CA346062681 | ADCY3 | c.2828A>T (p.Asn943Ile) c.2825A>T (p.Asn942Ile) n.97A>T c.1766A>T (p.Asn589Ile) c.2894A>T (p.Asn965Ile) c.2951A>T (p.Asn984Ile) c.2948A>T (p.Asn983Ile) c.2885A>T (p.Asn962Ile) c.2813A>T (p.Asn938Ile) c.2753A>T (p.Asn918Ile) c.2285A>T (p.Asn762Ile) c.2228A>T (p.Asn743Ile) c.2891A>T (p.Asn964Ile) c.2882A>T (p.Asn961Ile) c.2810A>T (p.Asn937Ile) c.2687A>T (p.Asn896Ile) c.2315A>T (p.Asn772Ile) c.2105A>T (p.Asn702Ile) c.2102A>T (p.Asn701Ile) c.2332-637A>T (n.2332-637A>T) | |
2 | g.24823267T>C | CA346062679 | ADCY3 | c.2828A>G (p.Asn943Ser) c.2825A>G (p.Asn942Ser) n.97A>G c.1766A>G (p.Asn589Ser) c.2894A>G (p.Asn965Ser) c.2951A>G (p.Asn984Ser) c.2948A>G (p.Asn983Ser) c.2885A>G (p.Asn962Ser) c.2813A>G (p.Asn938Ser) c.2753A>G (p.Asn918Ser) c.2285A>G (p.Asn762Ser) c.2228A>G (p.Asn743Ser) c.2891A>G (p.Asn964Ser) c.2882A>G (p.Asn961Ser) c.2810A>G (p.Asn937Ser) c.2687A>G (p.Asn896Ser) c.2315A>G (p.Asn772Ser) c.2105A>G (p.Asn702Ser) c.2102A>G (p.Asn701Ser) c.2332-637A>G (n.2332-637A>G) | |
2 | g.24823267T>G | CA346062677 | ADCY3 | c.2828A>C (p.Asn943Thr) c.2825A>C (p.Asn942Thr) n.97A>C c.1766A>C (p.Asn589Thr) c.2894A>C (p.Asn965Thr) c.2951A>C (p.Asn984Thr) c.2948A>C (p.Asn983Thr) c.2885A>C (p.Asn962Thr) c.2813A>C (p.Asn938Thr) c.2753A>C (p.Asn918Thr) c.2285A>C (p.Asn762Thr) c.2228A>C (p.Asn743Thr) c.2891A>C (p.Asn964Thr) c.2882A>C (p.Asn961Thr) c.2810A>C (p.Asn937Thr) c.2687A>C (p.Asn896Thr) c.2315A>C (p.Asn772Thr) c.2105A>C (p.Asn702Thr) c.2102A>C (p.Asn701Thr) c.2332-637A>C (n.2332-637A>C) | |
2 | g.24823268T>A | CA346062684 | ADCY3 | c.2827A>T (p.Asn943Tyr) c.2824A>T (p.Asn942Tyr) n.96A>T c.1765A>T (p.Asn589Tyr) c.2893A>T (p.Asn965Tyr) c.2950A>T (p.Asn984Tyr) c.2947A>T (p.Asn983Tyr) c.2884A>T (p.Asn962Tyr) c.2812A>T (p.Asn938Tyr) c.2752A>T (p.Asn918Tyr) c.2284A>T (p.Asn762Tyr) c.2227A>T (p.Asn743Tyr) c.2890A>T (p.Asn964Tyr) c.2881A>T (p.Asn961Tyr) c.2809A>T (p.Asn937Tyr) c.2686A>T (p.Asn896Tyr) c.2314A>T (p.Asn772Tyr) c.2104A>T (p.Asn702Tyr) c.2101A>T (p.Asn701Tyr) c.2332-638A>T (n.2332-638A>T) | |
2 | g.24823268T>C | CA346062686 | ADCY3 | c.2827A>G (p.Asn943Asp) c.2824A>G (p.Asn942Asp) n.96A>G c.1765A>G (p.Asn589Asp) c.2893A>G (p.Asn965Asp) c.2950A>G (p.Asn984Asp) c.2947A>G (p.Asn983Asp) c.2884A>G (p.Asn962Asp) c.2812A>G (p.Asn938Asp) c.2752A>G (p.Asn918Asp) c.2284A>G (p.Asn762Asp) c.2227A>G (p.Asn743Asp) c.2890A>G (p.Asn964Asp) c.2881A>G (p.Asn961Asp) c.2809A>G (p.Asn937Asp) c.2686A>G (p.Asn896Asp) c.2314A>G (p.Asn772Asp) c.2104A>G (p.Asn702Asp) c.2101A>G (p.Asn701Asp) c.2332-638A>G (n.2332-638A>G) | |
2 | g.24823268T>G | CA346062688 | ADCY3 | c.2827A>C (p.Asn943His) c.2824A>C (p.Asn942His) n.96A>C c.1765A>C (p.Asn589His) c.2893A>C (p.Asn965His) c.2950A>C (p.Asn984His) c.2947A>C (p.Asn983His) c.2884A>C (p.Asn962His) c.2812A>C (p.Asn938His) c.2752A>C (p.Asn918His) c.2284A>C (p.Asn762His) c.2227A>C (p.Asn743His) c.2890A>C (p.Asn964His) c.2881A>C (p.Asn961His) c.2809A>C (p.Asn937His) c.2686A>C (p.Asn896His) c.2314A>C (p.Asn772His) c.2104A>C (p.Asn702His) c.2101A>C (p.Asn701His) c.2332-638A>C (n.2332-638A>C) | |
2 | g.24823269G>A | CA425171987 | ADCY3 | c.2826C>T (p.Ile942=) c.2823C>T (p.Ile941=) n.95C>T c.1764C>T (p.Ile588=) c.2892C>T (p.Ile964=) c.2949C>T (p.Ile983=) c.2946C>T (p.Ile982=) c.2883C>T (p.Ile961=) c.2811C>T (p.Ile937=) c.2751C>T (p.Ile917=) c.2283C>T (p.Ile761=) c.2226C>T (p.Ile742=) c.2889C>T (p.Ile963=) c.2880C>T (p.Ile960=) c.2808C>T (p.Ile936=) c.2685C>T (p.Ile895=) c.2313C>T (p.Ile771=) c.2103C>T (p.Ile701=) c.2100C>T (p.Ile700=) c.2332-639C>T (n.2332-639C>T) | dbSNP |
2 | g.24823269G>C | CA346062690 | ADCY3 | c.2826C>G (p.Ile942Met) c.2823C>G (p.Ile941Met) n.95C>G c.1764C>G (p.Ile588Met) c.2892C>G (p.Ile964Met) c.2949C>G (p.Ile983Met) c.2946C>G (p.Ile982Met) c.2883C>G (p.Ile961Met) c.2811C>G (p.Ile937Met) c.2751C>G (p.Ile917Met) c.2283C>G (p.Ile761Met) c.2226C>G (p.Ile742Met) c.2889C>G (p.Ile963Met) c.2880C>G (p.Ile960Met) c.2808C>G (p.Ile936Met) c.2685C>G (p.Ile895Met) c.2313C>G (p.Ile771Met) c.2103C>G (p.Ile701Met) c.2100C>G (p.Ile700Met) c.2332-639C>G (n.2332-639C>G) | |
2 | g.24823269G= | CA1239072282 | ADCY3 | c.2826C= (p.Ile942=) c.2823C= (p.Ile941=) n.95C= c.1764C= (p.Ile588=) c.2892C= (p.Ile964=) c.2949C= (p.Ile983=) c.2946C= (p.Ile982=) c.2883C= (p.Ile961=) c.2811C= (p.Ile937=) c.2751C= (p.Ile917=) c.2283C= (p.Ile761=) c.2226C= (p.Ile742=) c.2889C= (p.Ile963=) c.2880C= (p.Ile960=) c.2808C= (p.Ile936=) c.2685C= (p.Ile895=) c.2313C= (p.Ile771=) c.2103C= (p.Ile701=) c.2100C= (p.Ile700=) c.2332-639C= (n.2332-639C=) | |
2 | g.24823269G>T | CA425171986 | ADCY3 | c.2826C>A (p.Ile942=) c.2823C>A (p.Ile941=) n.95C>A c.1764C>A (p.Ile588=) c.2892C>A (p.Ile964=) c.2949C>A (p.Ile983=) c.2946C>A (p.Ile982=) c.2883C>A (p.Ile961=) c.2811C>A (p.Ile937=) c.2751C>A (p.Ile917=) c.2283C>A (p.Ile761=) c.2226C>A (p.Ile742=) c.2889C>A (p.Ile963=) c.2880C>A (p.Ile960=) c.2808C>A (p.Ile936=) c.2685C>A (p.Ile895=) c.2313C>A (p.Ile771=) c.2103C>A (p.Ile701=) c.2100C>A (p.Ile700=) c.2332-639C>A (n.2332-639C>A) | gnomAD v4 |
2 | g.24823270A>C | CA346062693 | ADCY3 | c.2825T>G (p.Ile942Ser) c.2822T>G (p.Ile941Ser) n.94T>G c.1763T>G (p.Ile588Ser) c.2891T>G (p.Ile964Ser) c.2948T>G (p.Ile983Ser) c.2945T>G (p.Ile982Ser) c.2882T>G (p.Ile961Ser) c.2810T>G (p.Ile937Ser) c.2750T>G (p.Ile917Ser) c.2282T>G (p.Ile761Ser) c.2225T>G (p.Ile742Ser) c.2888T>G (p.Ile963Ser) c.2879T>G (p.Ile960Ser) c.2807T>G (p.Ile936Ser) c.2684T>G (p.Ile895Ser) c.2312T>G (p.Ile771Ser) c.2102T>G (p.Ile701Ser) c.2099T>G (p.Ile700Ser) c.2332-640T>G (n.2332-640T>G) | |
2 | g.24823270A>G | CA346062696 | ADCY3 | c.2825T>C (p.Ile942Thr) c.2822T>C (p.Ile941Thr) n.94T>C c.1763T>C (p.Ile588Thr) c.2891T>C (p.Ile964Thr) c.2948T>C (p.Ile983Thr) c.2945T>C (p.Ile982Thr) c.2882T>C (p.Ile961Thr) c.2810T>C (p.Ile937Thr) c.2750T>C (p.Ile917Thr) c.2282T>C (p.Ile761Thr) c.2225T>C (p.Ile742Thr) c.2888T>C (p.Ile963Thr) c.2879T>C (p.Ile960Thr) c.2807T>C (p.Ile936Thr) c.2684T>C (p.Ile895Thr) c.2312T>C (p.Ile771Thr) c.2102T>C (p.Ile701Thr) c.2099T>C (p.Ile700Thr) c.2332-640T>C (n.2332-640T>C) | gnomAD v4 |
2 | g.24823270A>T | CA346062698 | ADCY3 | c.2825T>A (p.Ile942Asn) c.2822T>A (p.Ile941Asn) n.94T>A c.1763T>A (p.Ile588Asn) c.2891T>A (p.Ile964Asn) c.2948T>A (p.Ile983Asn) c.2945T>A (p.Ile982Asn) c.2882T>A (p.Ile961Asn) c.2810T>A (p.Ile937Asn) c.2750T>A (p.Ile917Asn) c.2282T>A (p.Ile761Asn) c.2225T>A (p.Ile742Asn) c.2888T>A (p.Ile963Asn) c.2879T>A (p.Ile960Asn) c.2807T>A (p.Ile936Asn) c.2684T>A (p.Ile895Asn) c.2312T>A (p.Ile771Asn) c.2102T>A (p.Ile701Asn) c.2099T>A (p.Ile700Asn) c.2332-640T>A (n.2332-640T>A) | |
2 | g.24823271T>A | CA346062699 | ADCY3 | c.2824A>T (p.Ile942Phe) c.2821A>T (p.Ile941Phe) n.93A>T c.1762A>T (p.Ile588Phe) c.2890A>T (p.Ile964Phe) c.2947A>T (p.Ile983Phe) c.2944A>T (p.Ile982Phe) c.2881A>T (p.Ile961Phe) c.2809A>T (p.Ile937Phe) c.2749A>T (p.Ile917Phe) c.2281A>T (p.Ile761Phe) c.2224A>T (p.Ile742Phe) c.2887A>T (p.Ile963Phe) c.2878A>T (p.Ile960Phe) c.2806A>T (p.Ile936Phe) c.2683A>T (p.Ile895Phe) c.2311A>T (p.Ile771Phe) c.2101A>T (p.Ile701Phe) c.2098A>T (p.Ile700Phe) c.2332-641A>T (n.2332-641A>T) | |
2 | g.24823271T>C | CA346062702 | ADCY3 | c.2824A>G (p.Ile942Val) c.2821A>G (p.Ile941Val) n.93A>G c.1762A>G (p.Ile588Val) c.2890A>G (p.Ile964Val) c.2947A>G (p.Ile983Val) c.2944A>G (p.Ile982Val) c.2881A>G (p.Ile961Val) c.2809A>G (p.Ile937Val) c.2749A>G (p.Ile917Val) c.2281A>G (p.Ile761Val) c.2224A>G (p.Ile742Val) c.2887A>G (p.Ile963Val) c.2878A>G (p.Ile960Val) c.2806A>G (p.Ile936Val) c.2683A>G (p.Ile895Val) c.2311A>G (p.Ile771Val) c.2101A>G (p.Ile701Val) c.2098A>G (p.Ile700Val) c.2332-641A>G (n.2332-641A>G) | gnomAD v4 |
2 | g.24823271T>G | CA346062703 | ADCY3 | c.2824A>C (p.Ile942Leu) c.2821A>C (p.Ile941Leu) n.93A>C c.1762A>C (p.Ile588Leu) c.2890A>C (p.Ile964Leu) c.2947A>C (p.Ile983Leu) c.2944A>C (p.Ile982Leu) c.2881A>C (p.Ile961Leu) c.2809A>C (p.Ile937Leu) c.2749A>C (p.Ile917Leu) c.2281A>C (p.Ile761Leu) c.2224A>C (p.Ile742Leu) c.2887A>C (p.Ile963Leu) c.2878A>C (p.Ile960Leu) c.2806A>C (p.Ile936Leu) c.2683A>C (p.Ile895Leu) c.2311A>C (p.Ile771Leu) c.2101A>C (p.Ile701Leu) c.2098A>C (p.Ile700Leu) c.2332-641A>C (n.2332-641A>C) | |
2 | g.24823272G>A | CA1553608 | ADCY3 | c.2823C>T (p.Ser941=) c.2820C>T (p.Ser940=) n.92C>T c.1761C>T (p.Ser587=) c.2889C>T (p.Ser963=) c.2946C>T (p.Ser982=) c.2943C>T (p.Ser981=) c.2880C>T (p.Ser960=) c.2808C>T (p.Ser936=) c.2748C>T (p.Ser916=) c.2280C>T (p.Ser760=) c.2223C>T (p.Ser741=) c.2886C>T (p.Ser962=) c.2877C>T (p.Ser959=) c.2805C>T (p.Ser935=) c.2682C>T (p.Ser894=) c.2310C>T (p.Ser770=) c.2100C>T (p.Ser700=) c.2097C>T (p.Ser699=) c.2332-642C>T (n.2332-642C>T) | dbSNP ExAC gnomAD v4 |
2 | g.24823272G>C | CA346062708 | ADCY3 | c.2823C>G (p.Ser941Arg) c.2820C>G (p.Ser940Arg) n.92C>G c.1761C>G (p.Ser587Arg) c.2889C>G (p.Ser963Arg) c.2946C>G (p.Ser982Arg) c.2943C>G (p.Ser981Arg) c.2880C>G (p.Ser960Arg) c.2808C>G (p.Ser936Arg) c.2748C>G (p.Ser916Arg) c.2280C>G (p.Ser760Arg) c.2223C>G (p.Ser741Arg) c.2886C>G (p.Ser962Arg) c.2877C>G (p.Ser959Arg) c.2805C>G (p.Ser935Arg) c.2682C>G (p.Ser894Arg) c.2310C>G (p.Ser770Arg) c.2100C>G (p.Ser700Arg) c.2097C>G (p.Ser699Arg) c.2332-642C>G (n.2332-642C>G) | |
2 | g.24823272G= | CA1239072283 | ADCY3 | c.2823C= (p.Ser941=) c.2820C= (p.Ser940=) n.92C= c.1761C= (p.Ser587=) c.2889C= (p.Ser963=) c.2946C= (p.Ser982=) c.2943C= (p.Ser981=) c.2880C= (p.Ser960=) c.2808C= (p.Ser936=) c.2748C= (p.Ser916=) c.2280C= (p.Ser760=) c.2223C= (p.Ser741=) c.2886C= (p.Ser962=) c.2877C= (p.Ser959=) c.2805C= (p.Ser935=) c.2682C= (p.Ser894=) c.2310C= (p.Ser770=) c.2100C= (p.Ser700=) c.2097C= (p.Ser699=) c.2332-642C= (n.2332-642C=) | |
2 | g.24823272G>T | CA346062710 | ADCY3 | c.2823C>A (p.Ser941Arg) c.2820C>A (p.Ser940Arg) n.92C>A c.1761C>A (p.Ser587Arg) c.2889C>A (p.Ser963Arg) c.2946C>A (p.Ser982Arg) c.2943C>A (p.Ser981Arg) c.2880C>A (p.Ser960Arg) c.2808C>A (p.Ser936Arg) c.2748C>A (p.Ser916Arg) c.2280C>A (p.Ser760Arg) c.2223C>A (p.Ser741Arg) c.2886C>A (p.Ser962Arg) c.2877C>A (p.Ser959Arg) c.2805C>A (p.Ser935Arg) c.2682C>A (p.Ser894Arg) c.2310C>A (p.Ser770Arg) c.2100C>A (p.Ser700Arg) c.2097C>A (p.Ser699Arg) c.2332-642C>A (n.2332-642C>A) |