Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.24841226T>C | CA43638433 | ADCY3 | c.1196+33A>G (n.1196+33A>G) c.464+33A>G (n.464+33A>G) c.1046+33A>G (n.1046+33A>G) n.579+33A>G c.209+33A>G (n.209+33A>G) c.530+33A>G (n.530+33A>G) c.473+33A>G (n.473+33A>G) c.560+33A>G (n.560+33A>G) | dbSNP gnomAD v4 |
2 | g.24841226T= | CA1239081883 | ADCY3 | c.1196+33A= (n.1196+33A=) c.464+33A= (n.464+33A=) c.1046+33A= (n.1046+33A=) n.579+33A= c.209+33A= (n.209+33A=) c.530+33A= (n.530+33A=) c.473+33A= (n.473+33A=) c.560+33A= (n.560+33A=) | |
2 | g.24841227G>A | CA2658143284 | ADCY3 | c.1196+32C>T (n.1196+32C>T) c.464+32C>T (n.464+32C>T) c.1046+32C>T (n.1046+32C>T) n.579+32C>T c.209+32C>T (n.209+32C>T) c.530+32C>T (n.530+32C>T) c.473+32C>T (n.473+32C>T) c.560+32C>T (n.560+32C>T) | gnomAD v4 |
2 | g.24841227G= | CA1239081884 | ADCY3 | c.1196+32C= (n.1196+32C=) c.464+32C= (n.464+32C=) c.1046+32C= (n.1046+32C=) n.579+32C= c.209+32C= (n.209+32C=) c.530+32C= (n.530+32C=) c.473+32C= (n.473+32C=) c.560+32C= (n.560+32C=) | |
2 | g.24841227G>T | CA1028494997 | ADCY3 | c.1196+32C>A (n.1196+32C>A) c.464+32C>A (n.464+32C>A) c.1046+32C>A (n.1046+32C>A) n.579+32C>A c.209+32C>A (n.209+32C>A) c.530+32C>A (n.530+32C>A) c.473+32C>A (n.473+32C>A) c.560+32C>A (n.560+32C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841229del | CA2576692498 | ADCY3 | c.1196+32del (n.1196+32del) c.464+32del (n.464+32del) c.1046+32del (n.1046+32del) n.579+32del c.209+32del (n.209+32del) c.530+32del (n.530+32del) c.473+32del (n.473+32del) c.560+32del (n.560+32del) | gnomAD v4 |
2 | g.24841228G>A | CA531760754 | ADCY3 | c.1196+31C>T (n.1196+31C>T) c.464+31C>T (n.464+31C>T) c.1046+31C>T (n.1046+31C>T) n.579+31C>T c.209+31C>T (n.209+31C>T) c.530+31C>T (n.530+31C>T) c.473+31C>T (n.473+31C>T) c.560+31C>T (n.560+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841228G= | CA1239081885 | ADCY3 | c.1196+31C= (n.1196+31C=) c.464+31C= (n.464+31C=) c.1046+31C= (n.1046+31C=) n.579+31C= c.209+31C= (n.209+31C=) c.530+31C= (n.530+31C=) c.473+31C= (n.473+31C=) c.560+31C= (n.560+31C=) | |
2 | g.24841229G>A | CA2658143285 | ADCY3 | c.1196+30C>T (n.1196+30C>T) c.464+30C>T (n.464+30C>T) c.1046+30C>T (n.1046+30C>T) n.579+30C>T c.209+30C>T (n.209+30C>T) c.530+30C>T (n.530+30C>T) c.473+30C>T (n.473+30C>T) c.560+30C>T (n.560+30C>T) | gnomAD v4 |
2 | g.24841229G>C | CA2658143286 | ADCY3 | c.1196+30C>G (n.1196+30C>G) c.464+30C>G (n.464+30C>G) c.1046+30C>G (n.1046+30C>G) n.579+30C>G c.209+30C>G (n.209+30C>G) c.530+30C>G (n.530+30C>G) c.473+30C>G (n.473+30C>G) c.560+30C>G (n.560+30C>G) | gnomAD v4 |
2 | g.24841229G>T | CA2658143287 | ADCY3 | c.1196+30C>A (n.1196+30C>A) c.464+30C>A (n.464+30C>A) c.1046+30C>A (n.1046+30C>A) n.579+30C>A c.209+30C>A (n.209+30C>A) c.530+30C>A (n.530+30C>A) c.473+30C>A (n.473+30C>A) c.560+30C>A (n.560+30C>A) | gnomAD v4 |
2 | g.24841230A>C | CA2839093398 | ADCY3 | c.1196+29T>G (n.1196+29T>G) c.464+29T>G (n.464+29T>G) c.1046+29T>G (n.1046+29T>G) n.579+29T>G c.209+29T>G (n.209+29T>G) c.530+29T>G (n.530+29T>G) c.473+29T>G (n.473+29T>G) c.560+29T>G (n.560+29T>G) | |
2 | g.24841230A>G | CA2658143288 | ADCY3 | c.1196+29T>C (n.1196+29T>C) c.464+29T>C (n.464+29T>C) c.1046+29T>C (n.1046+29T>C) n.579+29T>C c.209+29T>C (n.209+29T>C) c.530+29T>C (n.530+29T>C) c.473+29T>C (n.473+29T>C) c.560+29T>C (n.560+29T>C) | gnomAD v4 |
2 | g.24841230A>T | CA2658143289 | ADCY3 | c.1196+29T>A (n.1196+29T>A) c.464+29T>A (n.464+29T>A) c.1046+29T>A (n.1046+29T>A) n.579+29T>A c.209+29T>A (n.209+29T>A) c.530+29T>A (n.530+29T>A) c.473+29T>A (n.473+29T>A) c.560+29T>A (n.560+29T>A) | gnomAD v4 |
2 | g.24841231G>A | CA767123556 | ADCY3 | c.1196+28C>T (n.1196+28C>T) c.464+28C>T (n.464+28C>T) c.1046+28C>T (n.1046+28C>T) n.579+28C>T c.209+28C>T (n.209+28C>T) c.530+28C>T (n.530+28C>T) c.473+28C>T (n.473+28C>T) c.560+28C>T (n.560+28C>T) | dbSNP gnomAD v4 |
2 | g.24841231G>C | CA1028494999 | ADCY3 | c.1196+28C>G (n.1196+28C>G) c.464+28C>G (n.464+28C>G) c.1046+28C>G (n.1046+28C>G) n.579+28C>G c.209+28C>G (n.209+28C>G) c.530+28C>G (n.530+28C>G) c.473+28C>G (n.473+28C>G) c.560+28C>G (n.560+28C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841231G= | CA1239081886 | ADCY3 | c.1196+28C= (n.1196+28C=) c.464+28C= (n.464+28C=) c.1046+28C= (n.1046+28C=) n.579+28C= c.209+28C= (n.209+28C=) c.530+28C= (n.530+28C=) c.473+28C= (n.473+28C=) c.560+28C= (n.560+28C=) | |
2 | g.24841231G>T | CA1554272 | ADCY3 | c.1196+28C>A (n.1196+28C>A) c.464+28C>A (n.464+28C>A) c.1046+28C>A (n.1046+28C>A) n.579+28C>A c.209+28C>A (n.209+28C>A) c.530+28C>A (n.530+28C>A) c.473+28C>A (n.473+28C>A) c.560+28C>A (n.560+28C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841232C>A | CA2658143290 | ADCY3 | c.1196+27G>T (n.1196+27G>T) c.464+27G>T (n.464+27G>T) c.1046+27G>T (n.1046+27G>T) n.579+27G>T c.209+27G>T (n.209+27G>T) c.530+27G>T (n.530+27G>T) c.473+27G>T (n.473+27G>T) c.560+27G>T (n.560+27G>T) | gnomAD v4 |
2 | g.24841232C= | CA1239081887 | ADCY3 | c.1196+27G= (n.1196+27G=) c.464+27G= (n.464+27G=) c.1046+27G= (n.1046+27G=) n.579+27G= c.209+27G= (n.209+27G=) c.530+27G= (n.530+27G=) c.473+27G= (n.473+27G=) c.560+27G= (n.560+27G=) | |
2 | g.24841232C>G | CA2842127548 | ADCY3 | c.1196+27G>C (n.1196+27G>C) c.464+27G>C (n.464+27G>C) c.1046+27G>C (n.1046+27G>C) n.579+27G>C c.209+27G>C (n.209+27G>C) c.530+27G>C (n.530+27G>C) c.473+27G>C (n.473+27G>C) c.560+27G>C (n.560+27G>C) | |
2 | g.24841232C>T | CA531760755 | ADCY3 | c.1196+27G>A (n.1196+27G>A) c.464+27G>A (n.464+27G>A) c.1046+27G>A (n.1046+27G>A) n.579+27G>A c.209+27G>A (n.209+27G>A) c.530+27G>A (n.530+27G>A) c.473+27G>A (n.473+27G>A) c.560+27G>A (n.560+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841233C>A | CA531760756 | ADCY3 | c.1196+26G>T (n.1196+26G>T) c.464+26G>T (n.464+26G>T) c.1046+26G>T (n.1046+26G>T) n.579+26G>T c.209+26G>T (n.209+26G>T) c.530+26G>T (n.530+26G>T) c.473+26G>T (n.473+26G>T) c.560+26G>T (n.560+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841233C= | CA1239081888 | ADCY3 | c.1196+26G= (n.1196+26G=) c.464+26G= (n.464+26G=) c.1046+26G= (n.1046+26G=) n.579+26G= c.209+26G= (n.209+26G=) c.530+26G= (n.530+26G=) c.473+26G= (n.473+26G=) c.560+26G= (n.560+26G=) | |
2 | g.24841233C>T | CA2658143291 | ADCY3 | c.1196+26G>A (n.1196+26G>A) c.464+26G>A (n.464+26G>A) c.1046+26G>A (n.1046+26G>A) n.579+26G>A c.209+26G>A (n.209+26G>A) c.530+26G>A (n.530+26G>A) c.473+26G>A (n.473+26G>A) c.560+26G>A (n.560+26G>A) | gnomAD v4 |
2 | g.24841234T>A | CA2658143292 | ADCY3 | c.1196+25A>T (n.1196+25A>T) c.464+25A>T (n.464+25A>T) c.1046+25A>T (n.1046+25A>T) n.579+25A>T c.209+25A>T (n.209+25A>T) c.530+25A>T (n.530+25A>T) c.473+25A>T (n.473+25A>T) c.560+25A>T (n.560+25A>T) | gnomAD v4 |
2 | g.24841234T>C | CA531760757 | ADCY3 | c.1196+25A>G (n.1196+25A>G) c.464+25A>G (n.464+25A>G) c.1046+25A>G (n.1046+25A>G) n.579+25A>G c.209+25A>G (n.209+25A>G) c.530+25A>G (n.530+25A>G) c.473+25A>G (n.473+25A>G) c.560+25A>G (n.560+25A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841234T= | CA1239081889 | ADCY3 | c.1196+25A= (n.1196+25A=) c.464+25A= (n.464+25A=) c.1046+25A= (n.1046+25A=) n.579+25A= c.209+25A= (n.209+25A=) c.530+25A= (n.530+25A=) c.473+25A= (n.473+25A=) c.560+25A= (n.560+25A=) | |
2 | g.24841235C>A | CA2658143294 | ADCY3 | c.1196+24G>T (n.1196+24G>T) c.464+24G>T (n.464+24G>T) c.1046+24G>T (n.1046+24G>T) n.579+24G>T c.209+24G>T (n.209+24G>T) c.530+24G>T (n.530+24G>T) c.473+24G>T (n.473+24G>T) c.560+24G>T (n.560+24G>T) | gnomAD v4 |
2 | g.24841235C>T | CA2658143295 | ADCY3 | c.1196+24G>A (n.1196+24G>A) c.464+24G>A (n.464+24G>A) c.1046+24G>A (n.1046+24G>A) n.579+24G>A c.209+24G>A (n.209+24G>A) c.530+24G>A (n.530+24G>A) c.473+24G>A (n.473+24G>A) c.560+24G>A (n.560+24G>A) | gnomAD v4 |
2 | g.24841237del | CA2658143293 | ADCY3 | c.1196+24del (n.1196+24del) c.464+24del (n.464+24del) c.1046+24del (n.1046+24del) n.579+24del c.209+24del (n.209+24del) c.530+24del (n.530+24del) c.473+24del (n.473+24del) c.560+24del (n.560+24del) | gnomAD v4 |
2 | g.24841235_24841252dup | CA1239081890 | ADCY3 | c.1196+7_1196+24dup (n.1196+7_1196+24dup) c.464+7_464+24dup (n.464+7_464+24dup) c.1046+7_1046+24dup (n.1046+7_1046+24dup) n.579+7_579+24dup c.209+7_209+24dup (n.209+7_209+24dup) c.530+7_530+24dup (n.530+7_530+24dup) c.473+7_473+24dup (n.473+7_473+24dup) c.560+7_560+24dup (n.560+7_560+24dup) | dbSNP |
2 | g.24841236C>A | CA2530225943 | ADCY3 | c.1196+23G>T (n.1196+23G>T) c.464+23G>T (n.464+23G>T) c.1046+23G>T (n.1046+23G>T) n.579+23G>T c.209+23G>T (n.209+23G>T) c.530+23G>T (n.530+23G>T) c.473+23G>T (n.473+23G>T) c.560+23G>T (n.560+23G>T) | gnomAD v4 |
2 | g.24841237C>A | CA2658143296 | ADCY3 | c.1196+22G>T (n.1196+22G>T) c.464+22G>T (n.464+22G>T) c.1046+22G>T (n.1046+22G>T) n.579+22G>T c.209+22G>T (n.209+22G>T) c.530+22G>T (n.530+22G>T) c.473+22G>T (n.473+22G>T) c.560+22G>T (n.560+22G>T) | gnomAD v4 |
2 | g.24841237C>T | CA2658143297 | ADCY3 | c.1196+22G>A (n.1196+22G>A) c.464+22G>A (n.464+22G>A) c.1046+22G>A (n.1046+22G>A) n.579+22G>A c.209+22G>A (n.209+22G>A) c.530+22G>A (n.530+22G>A) c.473+22G>A (n.473+22G>A) c.560+22G>A (n.560+22G>A) | gnomAD v4 |
2 | g.24841238del | CA2749194754 | ADCY3 | c.1196+21del (n.1196+21del) c.464+21del (n.464+21del) c.1046+21del (n.1046+21del) n.579+21del c.209+21del (n.209+21del) c.530+21del (n.530+21del) c.473+21del (n.473+21del) c.560+21del (n.560+21del) | |
2 | g.24841238T>A | CA2658143298 | ADCY3 | c.1196+21A>T (n.1196+21A>T) c.464+21A>T (n.464+21A>T) c.1046+21A>T (n.1046+21A>T) n.579+21A>T c.209+21A>T (n.209+21A>T) c.530+21A>T (n.530+21A>T) c.473+21A>T (n.473+21A>T) c.560+21A>T (n.560+21A>T) | gnomAD v4 |
2 | g.24841238T>C | CA1239081891 | ADCY3 | c.1196+21A>G (n.1196+21A>G) c.464+21A>G (n.464+21A>G) c.1046+21A>G (n.1046+21A>G) n.579+21A>G c.209+21A>G (n.209+21A>G) c.530+21A>G (n.530+21A>G) c.473+21A>G (n.473+21A>G) c.560+21A>G (n.560+21A>G) | dbSNP gnomAD v4 |
2 | g.24841238T= | CA1239081892 | ADCY3 | c.1196+21A= (n.1196+21A=) c.464+21A= (n.464+21A=) c.1046+21A= (n.1046+21A=) n.579+21A= c.209+21A= (n.209+21A=) c.530+21A= (n.530+21A=) c.473+21A= (n.473+21A=) c.560+21A= (n.560+21A=) | |
2 | g.24841239C>A | CA2658143299 | ADCY3 | c.1196+20G>T (n.1196+20G>T) c.464+20G>T (n.464+20G>T) c.1046+20G>T (n.1046+20G>T) n.579+20G>T c.209+20G>T (n.209+20G>T) c.530+20G>T (n.530+20G>T) c.473+20G>T (n.473+20G>T) c.560+20G>T (n.560+20G>T) | gnomAD v4 |
2 | g.24841239C>T | CA2658143300 | ADCY3 | c.1196+20G>A (n.1196+20G>A) c.464+20G>A (n.464+20G>A) c.1046+20G>A (n.1046+20G>A) n.579+20G>A c.209+20G>A (n.209+20G>A) c.530+20G>A (n.530+20G>A) c.473+20G>A (n.473+20G>A) c.560+20G>A (n.560+20G>A) | gnomAD v4 |
2 | g.24841241del | CA2576692499 | ADCY3 | c.1196+20del (n.1196+20del) c.464+20del (n.464+20del) c.1046+20del (n.1046+20del) n.579+20del c.209+20del (n.209+20del) c.530+20del (n.530+20del) c.473+20del (n.473+20del) c.560+20del (n.560+20del) | |
2 | g.24841240C>A | CA2658143301 | ADCY3 | c.1196+19G>T (n.1196+19G>T) c.464+19G>T (n.464+19G>T) c.1046+19G>T (n.1046+19G>T) n.579+19G>T c.209+19G>T (n.209+19G>T) c.530+19G>T (n.530+19G>T) c.473+19G>T (n.473+19G>T) c.560+19G>T (n.560+19G>T) | gnomAD v4 |
2 | g.24841240C= | CA1239081893 | ADCY3 | c.1196+19G= (n.1196+19G=) c.464+19G= (n.464+19G=) c.1046+19G= (n.1046+19G=) n.579+19G= c.209+19G= (n.209+19G=) c.530+19G= (n.530+19G=) c.473+19G= (n.473+19G=) c.560+19G= (n.560+19G=) | |
2 | g.24841240C>T | CA531760758 | ADCY3 | c.1196+19G>A (n.1196+19G>A) c.464+19G>A (n.464+19G>A) c.1046+19G>A (n.1046+19G>A) n.579+19G>A c.209+19G>A (n.209+19G>A) c.530+19G>A (n.530+19G>A) c.473+19G>A (n.473+19G>A) c.560+19G>A (n.560+19G>A) | dbSNP gnomAD v2 |
2 | g.24841241C>A | CA531760759 | ADCY3 | c.1196+18G>T (n.1196+18G>T) c.464+18G>T (n.464+18G>T) c.1046+18G>T (n.1046+18G>T) n.579+18G>T c.209+18G>T (n.209+18G>T) c.530+18G>T (n.530+18G>T) c.473+18G>T (n.473+18G>T) c.560+18G>T (n.560+18G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841241C= | CA1239081894 | ADCY3 | c.1196+18G= (n.1196+18G=) c.464+18G= (n.464+18G=) c.1046+18G= (n.1046+18G=) n.579+18G= c.209+18G= (n.209+18G=) c.530+18G= (n.530+18G=) c.473+18G= (n.473+18G=) c.560+18G= (n.560+18G=) | |
2 | g.24841241C>G | CA2658143303 | ADCY3 | c.1196+18G>C (n.1196+18G>C) c.464+18G>C (n.464+18G>C) c.1046+18G>C (n.1046+18G>C) n.579+18G>C c.209+18G>C (n.209+18G>C) c.530+18G>C (n.530+18G>C) c.473+18G>C (n.473+18G>C) c.560+18G>C (n.560+18G>C) | gnomAD v4 |
2 | g.24841241C>T | CA2658143302 | ADCY3 | c.1196+18G>A (n.1196+18G>A) c.464+18G>A (n.464+18G>A) c.1046+18G>A (n.1046+18G>A) n.579+18G>A c.209+18G>A (n.209+18G>A) c.530+18G>A (n.530+18G>A) c.473+18G>A (n.473+18G>A) c.560+18G>A (n.560+18G>A) | gnomAD v4 |
2 | g.24841242A= | CA1239081895 | ADCY3 | c.1196+17T= (n.1196+17T=) c.464+17T= (n.464+17T=) c.1046+17T= (n.1046+17T=) n.579+17T= c.209+17T= (n.209+17T=) c.530+17T= (n.530+17T=) c.473+17T= (n.473+17T=) c.560+17T= (n.560+17T=) | |
2 | g.24841242A>G | CA2658143304 | ADCY3 | c.1196+17T>C (n.1196+17T>C) c.464+17T>C (n.464+17T>C) c.1046+17T>C (n.1046+17T>C) n.579+17T>C c.209+17T>C (n.209+17T>C) c.530+17T>C (n.530+17T>C) c.473+17T>C (n.473+17T>C) c.560+17T>C (n.560+17T>C) | gnomAD v4 |
2 | g.24841242A>T | CA531760760 | ADCY3 | c.1196+17T>A (n.1196+17T>A) c.464+17T>A (n.464+17T>A) c.1046+17T>A (n.1046+17T>A) n.579+17T>A c.209+17T>A (n.209+17T>A) c.530+17T>A (n.530+17T>A) c.473+17T>A (n.473+17T>A) c.560+17T>A (n.560+17T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841243G>A | CA1554273 | ADCY3 | c.1196+16C>T (n.1196+16C>T) c.464+16C>T (n.464+16C>T) c.1046+16C>T (n.1046+16C>T) n.579+16C>T c.209+16C>T (n.209+16C>T) c.530+16C>T (n.530+16C>T) c.473+16C>T (n.473+16C>T) c.560+16C>T (n.560+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841243G= | CA1239081896 | ADCY3 | c.1196+16C= (n.1196+16C=) c.464+16C= (n.464+16C=) c.1046+16C= (n.1046+16C=) n.579+16C= c.209+16C= (n.209+16C=) c.530+16C= (n.530+16C=) c.473+16C= (n.473+16C=) c.560+16C= (n.560+16C=) | |
2 | g.24841243G>T | CA2658143305 | ADCY3 | c.1196+16C>A (n.1196+16C>A) c.464+16C>A (n.464+16C>A) c.1046+16C>A (n.1046+16C>A) n.579+16C>A c.209+16C>A (n.209+16C>A) c.530+16C>A (n.530+16C>A) c.473+16C>A (n.473+16C>A) c.560+16C>A (n.560+16C>A) | gnomAD v4 |
2 | g.24841244del | CA2658143306 | ADCY3 | c.1196+15del (n.1196+15del) c.464+15del (n.464+15del) c.1046+15del (n.1046+15del) n.579+15del c.209+15del (n.209+15del) c.530+15del (n.530+15del) c.473+15del (n.473+15del) c.560+15del (n.560+15del) | gnomAD v4 |
2 | g.24841244A= | CA1239081897 | ADCY3 | c.1196+15T= (n.1196+15T=) c.464+15T= (n.464+15T=) c.1046+15T= (n.1046+15T=) n.579+15T= c.209+15T= (n.209+15T=) c.530+15T= (n.530+15T=) c.473+15T= (n.473+15T=) c.560+15T= (n.560+15T=) | |
2 | g.24841244A>G | CA2658143307 | ADCY3 | c.1196+15T>C (n.1196+15T>C) c.464+15T>C (n.464+15T>C) c.1046+15T>C (n.1046+15T>C) n.579+15T>C c.209+15T>C (n.209+15T>C) c.530+15T>C (n.530+15T>C) c.473+15T>C (n.473+15T>C) c.560+15T>C (n.560+15T>C) | gnomAD v4 |
2 | g.24841244A>T | CA531760761 | ADCY3 | c.1196+15T>A (n.1196+15T>A) c.464+15T>A (n.464+15T>A) c.1046+15T>A (n.1046+15T>A) n.579+15T>A c.209+15T>A (n.209+15T>A) c.530+15T>A (n.530+15T>A) c.473+15T>A (n.473+15T>A) c.560+15T>A (n.560+15T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841245G>T | CA2842127549 | ADCY3 | c.1196+14C>A (n.1196+14C>A) c.464+14C>A (n.464+14C>A) c.1046+14C>A (n.1046+14C>A) n.579+14C>A c.209+14C>A (n.209+14C>A) c.530+14C>A (n.530+14C>A) c.473+14C>A (n.473+14C>A) c.560+14C>A (n.560+14C>A) | |
2 | g.24841246G>A | CA2658143310 | ADCY3 | c.1196+13C>T (n.1196+13C>T) c.464+13C>T (n.464+13C>T) c.1046+13C>T (n.1046+13C>T) n.579+13C>T c.209+13C>T (n.209+13C>T) c.530+13C>T (n.530+13C>T) c.473+13C>T (n.473+13C>T) c.560+13C>T (n.560+13C>T) | gnomAD v4 |
2 | g.24841246G>T | CA2658143311 | ADCY3 | c.1196+13C>A (n.1196+13C>A) c.464+13C>A (n.464+13C>A) c.1046+13C>A (n.1046+13C>A) n.579+13C>A c.209+13C>A (n.209+13C>A) c.530+13C>A (n.530+13C>A) c.473+13C>A (n.473+13C>A) c.560+13C>A (n.560+13C>A) | gnomAD v4 |
2 | g.24841246_24841248dup | CA2658143308 | ADCY3 | c.1196+11_1196+13dup (n.1196+11_1196+13dup) c.464+11_464+13dup (n.464+11_464+13dup) c.1046+11_1046+13dup (n.1046+11_1046+13dup) n.579+11_579+13dup c.209+11_209+13dup (n.209+11_209+13dup) c.530+11_530+13dup (n.530+11_530+13dup) c.473+11_473+13dup (n.473+11_473+13dup) c.560+11_560+13dup (n.560+11_560+13dup) | gnomAD v4 |
2 | g.24841246_24841250del | CA2658143309 | ADCY3 | c.1196+9_1196+13del (n.1196+9_1196+13del) c.464+9_464+13del (n.464+9_464+13del) c.1046+9_1046+13del (n.1046+9_1046+13del) n.579+9_579+13del c.209+9_209+13del (n.209+9_209+13del) c.530+9_530+13del (n.530+9_530+13del) c.473+9_473+13del (n.473+9_473+13del) c.560+9_560+13del (n.560+9_560+13del) | gnomAD v4 |
2 | g.24841247C>T | CA2658143312 | ADCY3 | c.1196+12G>A (n.1196+12G>A) c.464+12G>A (n.464+12G>A) c.1046+12G>A (n.1046+12G>A) n.579+12G>A c.209+12G>A (n.209+12G>A) c.530+12G>A (n.530+12G>A) c.473+12G>A (n.473+12G>A) c.560+12G>A (n.560+12G>A) | gnomAD v4 |
2 | g.24841248A>G | CA2658143313 | ADCY3 | c.1196+11T>C (n.1196+11T>C) c.464+11T>C (n.464+11T>C) c.1046+11T>C (n.1046+11T>C) n.579+11T>C c.209+11T>C (n.209+11T>C) c.530+11T>C (n.530+11T>C) c.473+11T>C (n.473+11T>C) c.560+11T>C (n.560+11T>C) | gnomAD v4 |
2 | g.24841249T>C | CA767123576 | ADCY3 | c.1196+10A>G (n.1196+10A>G) c.464+10A>G (n.464+10A>G) c.1046+10A>G (n.1046+10A>G) n.579+10A>G c.209+10A>G (n.209+10A>G) c.530+10A>G (n.530+10A>G) c.473+10A>G (n.473+10A>G) c.560+10A>G (n.560+10A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841249T= | CA1239081898 | ADCY3 | c.1196+10A= (n.1196+10A=) c.464+10A= (n.464+10A=) c.1046+10A= (n.1046+10A=) n.579+10A= c.209+10A= (n.209+10A=) c.530+10A= (n.530+10A=) c.473+10A= (n.473+10A=) c.560+10A= (n.560+10A=) | |
2 | g.24841250C>A | CA2658143314 | ADCY3 | c.1196+9G>T (n.1196+9G>T) c.464+9G>T (n.464+9G>T) c.1046+9G>T (n.1046+9G>T) n.579+9G>T c.209+9G>T (n.209+9G>T) c.530+9G>T (n.530+9G>T) c.473+9G>T (n.473+9G>T) c.560+9G>T (n.560+9G>T) | gnomAD v4 |
2 | g.24841250C= | CA1239081899 | ADCY3 | c.1196+9G= (n.1196+9G=) c.464+9G= (n.464+9G=) c.1046+9G= (n.1046+9G=) n.579+9G= c.209+9G= (n.209+9G=) c.530+9G= (n.530+9G=) c.473+9G= (n.473+9G=) c.560+9G= (n.560+9G=) | |
2 | g.24841250C>T | CA531760762 | ADCY3 | c.1196+9G>A (n.1196+9G>A) c.464+9G>A (n.464+9G>A) c.1046+9G>A (n.1046+9G>A) n.579+9G>A c.209+9G>A (n.209+9G>A) c.530+9G>A (n.530+9G>A) c.473+9G>A (n.473+9G>A) c.560+9G>A (n.560+9G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841252del | CA2658143315 | ADCY3 | c.1196+9del (n.1196+9del) c.464+9del (n.464+9del) c.1046+9del (n.1046+9del) n.579+9del c.209+9del (n.209+9del) c.530+9del (n.530+9del) c.473+9del (n.473+9del) c.560+9del (n.560+9del) | gnomAD v4 |
2 | g.24841251C>A | CA2658143316 | ADCY3 | c.1196+8G>T (n.1196+8G>T) c.464+8G>T (n.464+8G>T) c.1046+8G>T (n.1046+8G>T) n.579+8G>T c.209+8G>T (n.209+8G>T) c.530+8G>T (n.530+8G>T) c.473+8G>T (n.473+8G>T) c.560+8G>T (n.560+8G>T) | gnomAD v4 |
2 | g.24841251C>T | CA2658143317 | ADCY3 | c.1196+8G>A (n.1196+8G>A) c.464+8G>A (n.464+8G>A) c.1046+8G>A (n.1046+8G>A) n.579+8G>A c.209+8G>A (n.209+8G>A) c.530+8G>A (n.530+8G>A) c.473+8G>A (n.473+8G>A) c.560+8G>A (n.560+8G>A) | gnomAD v4 |
2 | g.24841252C>A | CA531760763 | ADCY3 | c.1196+7G>T (n.1196+7G>T) c.464+7G>T (n.464+7G>T) c.1046+7G>T (n.1046+7G>T) n.579+7G>T c.209+7G>T (n.209+7G>T) c.530+7G>T (n.530+7G>T) c.473+7G>T (n.473+7G>T) c.560+7G>T (n.560+7G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841252C= | CA1239081900 | ADCY3 | c.1196+7G= (n.1196+7G=) c.464+7G= (n.464+7G=) c.1046+7G= (n.1046+7G=) n.579+7G= c.209+7G= (n.209+7G=) c.530+7G= (n.530+7G=) c.473+7G= (n.473+7G=) c.560+7G= (n.560+7G=) | |
2 | g.24841252C>T | CA1028495011 | ADCY3 | c.1196+7G>A (n.1196+7G>A) c.464+7G>A (n.464+7G>A) c.1046+7G>A (n.1046+7G>A) n.579+7G>A c.209+7G>A (n.209+7G>A) c.530+7G>A (n.530+7G>A) c.473+7G>A (n.473+7G>A) c.560+7G>A (n.560+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841253A>T | CA2569269527 | ADCY3 | c.1196+6T>A (n.1196+6T>A) c.464+6T>A (n.464+6T>A) c.1046+6T>A (n.1046+6T>A) n.579+6T>A c.209+6T>A (n.209+6T>A) c.530+6T>A (n.530+6T>A) c.473+6T>A (n.473+6T>A) c.560+6T>A (n.560+6T>A) | gnomAD v4 |
2 | g.24841254C>A | CA2658143318 | ADCY3 | c.1196+5G>T (n.1196+5G>T) c.464+5G>T (n.464+5G>T) c.1046+5G>T (n.1046+5G>T) n.579+5G>T c.209+5G>T (n.209+5G>T) c.530+5G>T (n.530+5G>T) c.473+5G>T (n.473+5G>T) c.560+5G>T (n.560+5G>T) | gnomAD v4 |
2 | g.24841254C>T | CA2658143319 | ADCY3 | c.1196+5G>A (n.1196+5G>A) c.464+5G>A (n.464+5G>A) c.1046+5G>A (n.1046+5G>A) n.579+5G>A c.209+5G>A (n.209+5G>A) c.530+5G>A (n.530+5G>A) c.473+5G>A (n.473+5G>A) c.560+5G>A (n.560+5G>A) | gnomAD v4 |
2 | g.24841255T>C | CA531760764 | ADCY3 | c.1196+4A>G (n.1196+4A>G) c.464+4A>G (n.464+4A>G) c.1046+4A>G (n.1046+4A>G) n.579+4A>G c.209+4A>G (n.209+4A>G) c.530+4A>G (n.530+4A>G) c.473+4A>G (n.473+4A>G) c.560+4A>G (n.560+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841255T= | CA1239081901 | ADCY3 | c.1196+4A= (n.1196+4A=) c.464+4A= (n.464+4A=) c.1046+4A= (n.1046+4A=) n.579+4A= c.209+4A= (n.209+4A=) c.530+4A= (n.530+4A=) c.473+4A= (n.473+4A=) c.560+4A= (n.560+4A=) | |
2 | g.24841256T>C | CA2658143320 | ADCY3 | c.1196+3A>G (n.1196+3A>G) c.464+3A>G (n.464+3A>G) c.1046+3A>G (n.1046+3A>G) n.579+3A>G c.209+3A>G (n.209+3A>G) c.530+3A>G (n.530+3A>G) c.473+3A>G (n.473+3A>G) c.560+3A>G (n.560+3A>G) | gnomAD v4 |
2 | g.24841257A>C | CA346063785 | ADCY3 | c.1196+2T>G (n.1196+2T>G) c.464+2T>G (n.464+2T>G) c.1046+2T>G (n.1046+2T>G) n.579+2T>G c.209+2T>G (n.209+2T>G) c.530+2T>G (n.530+2T>G) c.473+2T>G (n.473+2T>G) c.560+2T>G (n.560+2T>G) | |
2 | g.24841257A>G | CA346063783 | ADCY3 | c.1196+2T>C (n.1196+2T>C) c.464+2T>C (n.464+2T>C) c.1046+2T>C (n.1046+2T>C) n.579+2T>C c.209+2T>C (n.209+2T>C) c.530+2T>C (n.530+2T>C) c.473+2T>C (n.473+2T>C) c.560+2T>C (n.560+2T>C) | |
2 | g.24841257A>T | CA346063780 | ADCY3 | c.1196+2T>A (n.1196+2T>A) c.464+2T>A (n.464+2T>A) c.1046+2T>A (n.1046+2T>A) n.579+2T>A c.209+2T>A (n.209+2T>A) c.530+2T>A (n.530+2T>A) c.473+2T>A (n.473+2T>A) c.560+2T>A (n.560+2T>A) | |
2 | g.24841258C>A | CA1554274 | ADCY3 | c.1196+1G>T (n.1196+1G>T) c.464+1G>T (n.464+1G>T) c.1046+1G>T (n.1046+1G>T) n.579+1G>T c.209+1G>T (n.209+1G>T) c.530+1G>T (n.530+1G>T) c.473+1G>T (n.473+1G>T) c.560+1G>T (n.560+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24841258C= | CA1239081902 | ADCY3 | c.1196+1G= (n.1196+1G=) c.464+1G= (n.464+1G=) c.1046+1G= (n.1046+1G=) n.579+1G= c.209+1G= (n.209+1G=) c.530+1G= (n.530+1G=) c.473+1G= (n.473+1G=) c.560+1G= (n.560+1G=) | |
2 | g.24841258C>G | CA346063801 | ADCY3 | c.1196+1G>C (n.1196+1G>C) c.464+1G>C (n.464+1G>C) c.1046+1G>C (n.1046+1G>C) n.579+1G>C c.209+1G>C (n.209+1G>C) c.530+1G>C (n.530+1G>C) c.473+1G>C (n.473+1G>C) c.560+1G>C (n.560+1G>C) | gnomAD v4 |
2 | g.24841258C>T | CA346063804 | ADCY3 | c.1196+1G>A (n.1196+1G>A) c.464+1G>A (n.464+1G>A) c.1046+1G>A (n.1046+1G>A) n.579+1G>A c.209+1G>A (n.209+1G>A) c.530+1G>A (n.530+1G>A) c.473+1G>A (n.473+1G>A) c.560+1G>A (n.560+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841259G>A | CA346063808 | ADCY3 | c.1196C>T (p.Ser399Leu) c.464C>T (p.Ser155Leu) c.1046C>T (p.Ser349Leu) n.579C>T c.209C>T (p.Ser70Leu) c.530C>T (p.Ser177Leu) c.473C>T (p.Ser158Leu) c.560C>T (p.Ser187Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841259G>C | CA346063812 | ADCY3 | c.1196C>G (p.Ser399Trp) c.464C>G (p.Ser155Trp) c.1046C>G (p.Ser349Trp) n.579C>G c.209C>G (p.Ser70Trp) c.530C>G (p.Ser177Trp) c.473C>G (p.Ser158Trp) c.560C>G (p.Ser187Trp) | |
2 | g.24841259G= | CA1239081903 | ADCY3 | c.1196C= (p.Ser399=) c.464C= (p.Ser155=) c.1046C= (p.Ser349=) n.579C= c.209C= (p.Ser70=) c.530C= (p.Ser177=) c.473C= (p.Ser158=) c.560C= (p.Ser187=) | |
2 | g.24841259G>T | CA346063814 | ADCY3 | c.1196C>A (p.Ser399Ter) c.464C>A (p.Ser155Ter) c.1046C>A (p.Ser349Ter) n.579C>A c.209C>A (p.Ser70Ter) c.530C>A (p.Ser177Ter) c.473C>A (p.Ser158Ter) c.560C>A (p.Ser187Ter) | gnomAD v4 |
2 | g.24841260A>C | CA346063817 | ADCY3 | c.1195T>G (p.Ser399Ala) c.463T>G (p.Ser155Ala) c.1045T>G (p.Ser349Ala) n.578T>G c.208T>G (p.Ser70Ala) c.529T>G (p.Ser177Ala) c.472T>G (p.Ser158Ala) c.559T>G (p.Ser187Ala) | |
2 | g.24841260A>G | CA346063825 | ADCY3 | c.1195T>C (p.Ser399Pro) c.463T>C (p.Ser155Pro) c.1045T>C (p.Ser349Pro) n.578T>C c.208T>C (p.Ser70Pro) c.529T>C (p.Ser177Pro) c.472T>C (p.Ser158Pro) c.559T>C (p.Ser187Pro) | |
2 | g.24841260A>T | CA346063821 | ADCY3 | c.1195T>A (p.Ser399Thr) c.463T>A (p.Ser155Thr) c.1045T>A (p.Ser349Thr) n.578T>A c.208T>A (p.Ser70Thr) c.529T>A (p.Ser177Thr) c.472T>A (p.Ser158Thr) c.559T>A (p.Ser187Thr) | |
2 | g.24841261G>A | CA425176658 | ADCY3 | c.1194C>T (p.Ile398=) c.462C>T (p.Ile154=) c.1044C>T (p.Ile348=) n.577C>T c.207C>T (p.Ile69=) c.528C>T (p.Ile176=) c.471C>T (p.Ile157=) c.558C>T (p.Ile186=) | |
2 | g.24841261G>C | CA346063828 | ADCY3 | c.1194C>G (p.Ile398Met) c.462C>G (p.Ile154Met) c.1044C>G (p.Ile348Met) n.577C>G c.207C>G (p.Ile69Met) c.528C>G (p.Ile176Met) c.471C>G (p.Ile157Met) c.558C>G (p.Ile186Met) | |
2 | g.24841261G>T | CA425176663 | ADCY3 | c.1194C>A (p.Ile398=) c.462C>A (p.Ile154=) c.1044C>A (p.Ile348=) n.577C>A c.207C>A (p.Ile69=) c.528C>A (p.Ile176=) c.471C>A (p.Ile157=) c.558C>A (p.Ile186=) | gnomAD v4 |
2 | g.24841262A= | CA1239081904 | ADCY3 | c.1193T= (p.Ile398=) c.461T= (p.Ile154=) c.1043T= (p.Ile348=) n.576T= c.206T= (p.Ile69=) c.527T= (p.Ile176=) c.470T= (p.Ile157=) c.557T= (p.Ile186=) | |
2 | g.24841262A>C | CA346063831 | ADCY3 | c.1193T>G (p.Ile398Ser) c.461T>G (p.Ile154Ser) c.1043T>G (p.Ile348Ser) n.576T>G c.206T>G (p.Ile69Ser) c.527T>G (p.Ile176Ser) c.470T>G (p.Ile157Ser) c.557T>G (p.Ile186Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841262A>G | CA346063834 | ADCY3 | c.1193T>C (p.Ile398Thr) c.461T>C (p.Ile154Thr) c.1043T>C (p.Ile348Thr) n.576T>C c.206T>C (p.Ile69Thr) c.527T>C (p.Ile176Thr) c.470T>C (p.Ile157Thr) c.557T>C (p.Ile186Thr) | gnomAD v4 |
2 | g.24841262A>T | CA346063837 | ADCY3 | c.1193T>A (p.Ile398Asn) c.461T>A (p.Ile154Asn) c.1043T>A (p.Ile348Asn) n.576T>A c.206T>A (p.Ile69Asn) c.527T>A (p.Ile176Asn) c.470T>A (p.Ile157Asn) c.557T>A (p.Ile186Asn) | |
2 | g.24841263T>A | CA346063841 | ADCY3 | c.1192A>T (p.Ile398Phe) c.460A>T (p.Ile154Phe) c.1042A>T (p.Ile348Phe) n.575A>T c.205A>T (p.Ile69Phe) c.526A>T (p.Ile176Phe) c.469A>T (p.Ile157Phe) c.556A>T (p.Ile186Phe) | gnomAD v4 |
2 | g.24841263T>C | CA346063842 | ADCY3 | c.1192A>G (p.Ile398Val) c.460A>G (p.Ile154Val) c.1042A>G (p.Ile348Val) n.575A>G c.205A>G (p.Ile69Val) c.526A>G (p.Ile176Val) c.469A>G (p.Ile157Val) c.556A>G (p.Ile186Val) | gnomAD v4 |
2 | g.24841263T>G | CA346063843 | ADCY3 | c.1192A>C (p.Ile398Leu) c.460A>C (p.Ile154Leu) c.1042A>C (p.Ile348Leu) n.575A>C c.205A>C (p.Ile69Leu) c.526A>C (p.Ile176Leu) c.469A>C (p.Ile157Leu) c.556A>C (p.Ile186Leu) | |
2 | g.24841264G>A | CA425176683 | ADCY3 | c.1191C>T (p.Ala397=) c.459C>T (p.Ala153=) c.1041C>T (p.Ala347=) n.574C>T c.204C>T (p.Ala68=) c.525C>T (p.Ala175=) c.468C>T (p.Ala156=) c.555C>T (p.Ala185=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841264G>C | CA425176686 | ADCY3 | c.1191C>G (p.Ala397=) c.459C>G (p.Ala153=) c.1041C>G (p.Ala347=) n.574C>G c.204C>G (p.Ala68=) c.525C>G (p.Ala175=) c.468C>G (p.Ala156=) c.555C>G (p.Ala185=) | |
2 | g.24841264G= | CA1239081905 | ADCY3 | c.1191C= (p.Ala397=) c.459C= (p.Ala153=) c.1041C= (p.Ala347=) n.574C= c.204C= (p.Ala68=) c.525C= (p.Ala175=) c.468C= (p.Ala156=) c.555C= (p.Ala185=) | |
2 | g.24841264G>T | CA425176687 | ADCY3 | c.1191C>A (p.Ala397=) c.459C>A (p.Ala153=) c.1041C>A (p.Ala347=) n.574C>A c.204C>A (p.Ala68=) c.525C>A (p.Ala175=) c.468C>A (p.Ala156=) c.555C>A (p.Ala185=) | gnomAD v4 |
2 | g.24841265G>A | CA346063845 | ADCY3 | c.1190C>T (p.Ala397Val) c.458C>T (p.Ala153Val) c.1040C>T (p.Ala347Val) n.573C>T c.203C>T (p.Ala68Val) c.524C>T (p.Ala175Val) c.467C>T (p.Ala156Val) c.554C>T (p.Ala185Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841265G>C | CA346063847 | ADCY3 | c.1190C>G (p.Ala397Gly) c.458C>G (p.Ala153Gly) c.1040C>G (p.Ala347Gly) n.573C>G c.203C>G (p.Ala68Gly) c.524C>G (p.Ala175Gly) c.467C>G (p.Ala156Gly) c.554C>G (p.Ala185Gly) | gnomAD v4 |
2 | g.24841265G= | CA1239081906 | ADCY3 | c.1190C= (p.Ala397=) c.458C= (p.Ala153=) c.1040C= (p.Ala347=) n.573C= c.203C= (p.Ala68=) c.524C= (p.Ala175=) c.467C= (p.Ala156=) c.554C= (p.Ala185=) | |
2 | g.24841265G>T | CA346063849 | ADCY3 | c.1190C>A (p.Ala397Asp) c.458C>A (p.Ala153Asp) c.1040C>A (p.Ala347Asp) n.573C>A c.203C>A (p.Ala68Asp) c.524C>A (p.Ala175Asp) c.467C>A (p.Ala156Asp) c.554C>A (p.Ala185Asp) | gnomAD v4 |
2 | g.24841266C>A | CA346063856 | ADCY3 | c.1189G>T (p.Ala397Ser) c.457G>T (p.Ala153Ser) c.1039G>T (p.Ala347Ser) n.572G>T c.202G>T (p.Ala68Ser) c.523G>T (p.Ala175Ser) c.466G>T (p.Ala156Ser) c.553G>T (p.Ala185Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841266C= | CA1239081907 | ADCY3 | c.1189G= (p.Ala397=) c.457G= (p.Ala153=) c.1039G= (p.Ala347=) n.572G= c.202G= (p.Ala68=) c.523G= (p.Ala175=) c.466G= (p.Ala156=) c.553G= (p.Ala185=) | |
2 | g.24841266C>G | CA346063854 | ADCY3 | c.1189G>C (p.Ala397Pro) c.457G>C (p.Ala153Pro) c.1039G>C (p.Ala347Pro) n.572G>C c.202G>C (p.Ala68Pro) c.523G>C (p.Ala175Pro) c.466G>C (p.Ala156Pro) c.553G>C (p.Ala185Pro) | |
2 | g.24841266C>T | CA346063852 | ADCY3 | c.1189G>A (p.Ala397Thr) c.457G>A (p.Ala153Thr) c.1039G>A (p.Ala347Thr) n.572G>A c.202G>A (p.Ala68Thr) c.523G>A (p.Ala175Thr) c.466G>A (p.Ala156Thr) c.553G>A (p.Ala185Thr) | gnomAD v4 |
2 | g.24841267C>A | CA346063860 | ADCY3 | c.1188G>T (p.Glu396Asp) c.456G>T (p.Glu152Asp) c.1038G>T (p.Glu346Asp) n.571G>T c.201G>T (p.Glu67Asp) c.522G>T (p.Glu174Asp) c.465G>T (p.Glu155Asp) c.552G>T (p.Glu184Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841267C= | CA1239081908 | ADCY3 | c.1188G= (p.Glu396=) c.456G= (p.Glu152=) c.1038G= (p.Glu346=) n.571G= c.201G= (p.Glu67=) c.522G= (p.Glu174=) c.465G= (p.Glu155=) c.552G= (p.Glu184=) | |
2 | g.24841267C>G | CA346063866 | ADCY3 | c.1188G>C (p.Glu396Asp) c.456G>C (p.Glu152Asp) c.1038G>C (p.Glu346Asp) n.571G>C c.201G>C (p.Glu67Asp) c.522G>C (p.Glu174Asp) c.465G>C (p.Glu155Asp) c.552G>C (p.Glu184Asp) | gnomAD v4 |
2 | g.24841267C>T | CA425176714 | ADCY3 | c.1188G>A (p.Glu396=) c.456G>A (p.Glu152=) c.1038G>A (p.Glu346=) n.571G>A c.201G>A (p.Glu67=) c.522G>A (p.Glu174=) c.465G>A (p.Glu155=) c.552G>A (p.Glu184=) | gnomAD v4 |
2 | g.24841268T>A | CA346063869 | ADCY3 | c.1187A>T (p.Glu396Val) c.455A>T (p.Glu152Val) c.1037A>T (p.Glu346Val) n.570A>T c.200A>T (p.Glu67Val) c.521A>T (p.Glu174Val) c.464A>T (p.Glu155Val) c.551A>T (p.Glu184Val) | gnomAD v4 |
2 | g.24841268T>C | CA1554275 | ADCY3 | c.1187A>G (p.Glu396Gly) c.455A>G (p.Glu152Gly) c.1037A>G (p.Glu346Gly) n.570A>G c.200A>G (p.Glu67Gly) c.521A>G (p.Glu174Gly) c.464A>G (p.Glu155Gly) c.551A>G (p.Glu184Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841268T>G | CA346063876 | ADCY3 | c.1187A>C (p.Glu396Ala) c.455A>C (p.Glu152Ala) c.1037A>C (p.Glu346Ala) n.570A>C c.200A>C (p.Glu67Ala) c.521A>C (p.Glu174Ala) c.464A>C (p.Glu155Ala) c.551A>C (p.Glu184Ala) | |
2 | g.24841268T= | CA1239081909 | ADCY3 | c.1187A= (p.Glu396=) c.455A= (p.Glu152=) c.1037A= (p.Glu346=) n.570A= c.200A= (p.Glu67=) c.521A= (p.Glu174=) c.464A= (p.Glu155=) c.551A= (p.Glu184=) | |
2 | g.24841269C>A | CA346063884 | ADCY3 | c.1186G>T (p.Glu396Ter) c.454G>T (p.Glu152Ter) c.1036G>T (p.Glu346Ter) n.569G>T c.199G>T (p.Glu67Ter) c.520G>T (p.Glu174Ter) c.463G>T (p.Glu155Ter) c.550G>T (p.Glu184Ter) | |
2 | g.24841269C= | CA1239081910 | ADCY3 | c.1186G= (p.Glu396=) c.454G= (p.Glu152=) c.1036G= (p.Glu346=) n.569G= c.199G= (p.Glu67=) c.520G= (p.Glu174=) c.463G= (p.Glu155=) c.550G= (p.Glu184=) | |
2 | g.24841269C>G | CA346063881 | ADCY3 | c.1186G>C (p.Glu396Gln) c.454G>C (p.Glu152Gln) c.1036G>C (p.Glu346Gln) n.569G>C c.199G>C (p.Glu67Gln) c.520G>C (p.Glu174Gln) c.463G>C (p.Glu155Gln) c.550G>C (p.Glu184Gln) | dbSNP |
2 | g.24841269C>T | CA346063879 | ADCY3 | c.1186G>A (p.Glu396Lys) c.454G>A (p.Glu152Lys) c.1036G>A (p.Glu346Lys) n.569G>A c.199G>A (p.Glu67Lys) c.520G>A (p.Glu174Lys) c.463G>A (p.Glu155Lys) c.550G>A (p.Glu184Lys) | gnomAD v4 |
2 | g.24841270C>A | CA425176729 | ADCY3 | c.1185G>T (p.Val395=) c.453G>T (p.Val151=) c.1035G>T (p.Val345=) n.568G>T c.198G>T (p.Val66=) c.519G>T (p.Val173=) c.462G>T (p.Val154=) c.549G>T (p.Val183=) | |
2 | g.24841270C= | CA1239081911 | ADCY3 | c.1185G= (p.Val395=) c.453G= (p.Val151=) c.1035G= (p.Val345=) n.568G= c.198G= (p.Val66=) c.519G= (p.Val173=) c.462G= (p.Val154=) c.549G= (p.Val183=) | |
2 | g.24841270C>G | CA425176730 | ADCY3 | c.1185G>C (p.Val395=) c.453G>C (p.Val151=) c.1035G>C (p.Val345=) n.568G>C c.198G>C (p.Val66=) c.519G>C (p.Val173=) c.462G>C (p.Val154=) c.549G>C (p.Val183=) | |
2 | g.24841270C>T | CA425176734 | ADCY3 | c.1185G>A (p.Val395=) c.453G>A (p.Val151=) c.1035G>A (p.Val345=) n.568G>A c.198G>A (p.Val66=) c.519G>A (p.Val173=) c.462G>A (p.Val154=) c.549G>A (p.Val183=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841271A>C | CA346063891 | ADCY3 | c.1184T>G (p.Val395Gly) c.452T>G (p.Val151Gly) c.1034T>G (p.Val345Gly) n.567T>G c.197T>G (p.Val66Gly) c.518T>G (p.Val173Gly) c.461T>G (p.Val154Gly) c.548T>G (p.Val183Gly) | |
2 | g.24841271A>G | CA346063893 | ADCY3 | c.1184T>C (p.Val395Ala) c.452T>C (p.Val151Ala) c.1034T>C (p.Val345Ala) n.567T>C c.197T>C (p.Val66Ala) c.518T>C (p.Val173Ala) c.461T>C (p.Val154Ala) c.548T>C (p.Val183Ala) | gnomAD v4 |
2 | g.24841271A>T | CA346063896 | ADCY3 | c.1184T>A (p.Val395Glu) c.452T>A (p.Val151Glu) c.1034T>A (p.Val345Glu) n.567T>A c.197T>A (p.Val66Glu) c.518T>A (p.Val173Glu) c.461T>A (p.Val154Glu) c.548T>A (p.Val183Glu) | |
2 | g.24841272C>A | CA346063897 | ADCY3 | c.1183G>T (p.Val395Leu) c.451G>T (p.Val151Leu) c.1033G>T (p.Val345Leu) n.566G>T c.196G>T (p.Val66Leu) c.517G>T (p.Val173Leu) c.460G>T (p.Val154Leu) c.547G>T (p.Val183Leu) | dbSNP gnomAD v2 |
2 | g.24841272C= | CA1239081912 | ADCY3 | c.1183G= (p.Val395=) c.451G= (p.Val151=) c.1033G= (p.Val345=) n.566G= c.196G= (p.Val66=) c.517G= (p.Val173=) c.460G= (p.Val154=) c.547G= (p.Val183=) | |
2 | g.24841272C>G | CA346063898 | ADCY3 | c.1183G>C (p.Val395Leu) c.451G>C (p.Val151Leu) c.1033G>C (p.Val345Leu) n.566G>C c.196G>C (p.Val66Leu) c.517G>C (p.Val173Leu) c.460G>C (p.Val154Leu) c.547G>C (p.Val183Leu) | |
2 | g.24841272C>T | CA346063900 | ADCY3 | c.1183G>A (p.Val395Met) c.451G>A (p.Val151Met) c.1033G>A (p.Val345Met) n.566G>A c.196G>A (p.Val66Met) c.517G>A (p.Val173Met) c.460G>A (p.Val154Met) c.547G>A (p.Val183Met) | dbSNP |
2 | g.24841273C>A | CA346063903 | ADCY3 | c.1182G>T (p.Met394Ile) c.450G>T (p.Met150Ile) c.1032G>T (p.Met344Ile) n.565G>T c.195G>T (p.Met65Ile) c.516G>T (p.Met172Ile) c.459G>T (p.Met153Ile) c.546G>T (p.Met182Ile) | gnomAD v4 |
2 | g.24841273C= | CA1239081913 | ADCY3 | c.1182G= (p.Met394=) c.450G= (p.Met150=) c.1032G= (p.Met344=) n.565G= c.195G= (p.Met65=) c.516G= (p.Met172=) c.459G= (p.Met153=) c.546G= (p.Met182=) | |
2 | g.24841273C>G | CA346063907 | ADCY3 | c.1182G>C (p.Met394Ile) c.450G>C (p.Met150Ile) c.1032G>C (p.Met344Ile) n.565G>C c.195G>C (p.Met65Ile) c.516G>C (p.Met172Ile) c.459G>C (p.Met153Ile) c.546G>C (p.Met182Ile) | |
2 | g.24841273C>T | CA346063906 | ADCY3 | c.1182G>A (p.Met394Ile) c.450G>A (p.Met150Ile) c.1032G>A (p.Met344Ile) n.565G>A c.195G>A (p.Met65Ile) c.516G>A (p.Met172Ile) c.459G>A (p.Met153Ile) c.546G>A (p.Met182Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841274A>C | CA346063910 | ADCY3 | c.1181T>G (p.Met394Arg) c.449T>G (p.Met150Arg) c.1031T>G (p.Met344Arg) n.564T>G c.194T>G (p.Met65Arg) c.515T>G (p.Met172Arg) c.458T>G (p.Met153Arg) c.545T>G (p.Met182Arg) | |
2 | g.24841274A>G | CA346063915 | ADCY3 | c.1181T>C (p.Met394Thr) c.449T>C (p.Met150Thr) c.1031T>C (p.Met344Thr) n.564T>C c.194T>C (p.Met65Thr) c.515T>C (p.Met172Thr) c.458T>C (p.Met153Thr) c.545T>C (p.Met182Thr) | |
2 | g.24841274A>T | CA346063917 | ADCY3 | c.1181T>A (p.Met394Lys) c.449T>A (p.Met150Lys) c.1031T>A (p.Met344Lys) n.564T>A c.194T>A (p.Met65Lys) c.515T>A (p.Met172Lys) c.458T>A (p.Met153Lys) c.545T>A (p.Met182Lys) | |
2 | g.24841275T>A | CA346063921 | ADCY3 | c.1180A>T (p.Met394Leu) c.448A>T (p.Met150Leu) c.1030A>T (p.Met344Leu) n.563A>T c.193A>T (p.Met65Leu) c.514A>T (p.Met172Leu) c.457A>T (p.Met153Leu) c.544A>T (p.Met182Leu) | |
2 | g.24841275T>C | CA1554276 | ADCY3 | c.1180A>G (p.Met394Val) c.448A>G (p.Met150Val) c.1030A>G (p.Met344Val) n.563A>G c.193A>G (p.Met65Val) c.514A>G (p.Met172Val) c.457A>G (p.Met153Val) c.544A>G (p.Met182Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841275T>G | CA346063925 | ADCY3 | c.1180A>C (p.Met394Leu) c.448A>C (p.Met150Leu) c.1030A>C (p.Met344Leu) n.563A>C c.193A>C (p.Met65Leu) c.514A>C (p.Met172Leu) c.457A>C (p.Met153Leu) c.544A>C (p.Met182Leu) | |
2 | g.24841275T= | CA1239081914 | ADCY3 | c.1180A= (p.Met394=) c.448A= (p.Met150=) c.1030A= (p.Met344=) n.563A= c.193A= (p.Met65=) c.514A= (p.Met172=) c.457A= (p.Met153=) c.544A= (p.Met182=) | |
2 | g.24841276G>A | CA425176775 | ADCY3 | c.1179C>T (p.Ala393=) c.447C>T (p.Ala149=) c.1029C>T (p.Ala343=) n.562C>T c.192C>T (p.Ala64=) c.513C>T (p.Ala171=) c.456C>T (p.Ala152=) c.543C>T (p.Ala181=) | gnomAD v4 |
2 | g.24841276G>C | CA425176773 | ADCY3 | c.1179C>G (p.Ala393=) c.447C>G (p.Ala149=) c.1029C>G (p.Ala343=) n.562C>G c.192C>G (p.Ala64=) c.513C>G (p.Ala171=) c.456C>G (p.Ala152=) c.543C>G (p.Ala181=) | |
2 | g.24841276G>T | CA425176771 | ADCY3 | c.1179C>A (p.Ala393=) c.447C>A (p.Ala149=) c.1029C>A (p.Ala343=) n.562C>A c.192C>A (p.Ala64=) c.513C>A (p.Ala171=) c.456C>A (p.Ala152=) c.543C>A (p.Ala181=) | gnomAD v4 |
2 | g.24841277G>A | CA346063926 | ADCY3 | c.1178C>T (p.Ala393Val) c.446C>T (p.Ala149Val) c.1028C>T (p.Ala343Val) n.561C>T c.191C>T (p.Ala64Val) c.512C>T (p.Ala171Val) c.455C>T (p.Ala152Val) c.542C>T (p.Ala181Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841277G>C | CA346063927 | ADCY3 | c.1178C>G (p.Ala393Gly) c.446C>G (p.Ala149Gly) c.1028C>G (p.Ala343Gly) n.561C>G c.191C>G (p.Ala64Gly) c.512C>G (p.Ala171Gly) c.455C>G (p.Ala152Gly) c.542C>G (p.Ala181Gly) | |
2 | g.24841277G= | CA1239081915 | ADCY3 | c.1178C= (p.Ala393=) c.446C= (p.Ala149=) c.1028C= (p.Ala343=) n.561C= c.191C= (p.Ala64=) c.512C= (p.Ala171=) c.455C= (p.Ala152=) c.542C= (p.Ala181=) | |
2 | g.24841277G>T | CA346063929 | ADCY3 | c.1178C>A (p.Ala393Asp) c.446C>A (p.Ala149Asp) c.1028C>A (p.Ala343Asp) n.561C>A c.191C>A (p.Ala64Asp) c.512C>A (p.Ala171Asp) c.455C>A (p.Ala152Asp) c.542C>A (p.Ala181Asp) | |
2 | g.24841278C>A | CA346063933 | ADCY3 | c.1177G>T (p.Ala393Ser) c.445G>T (p.Ala149Ser) c.1027G>T (p.Ala343Ser) n.560G>T c.190G>T (p.Ala64Ser) c.511G>T (p.Ala171Ser) c.454G>T (p.Ala152Ser) c.541G>T (p.Ala181Ser) | gnomAD v4 |
2 | g.24841278C>G | CA346063935 | ADCY3 | c.1177G>C (p.Ala393Pro) c.445G>C (p.Ala149Pro) c.1027G>C (p.Ala343Pro) n.560G>C c.190G>C (p.Ala64Pro) c.511G>C (p.Ala171Pro) c.454G>C (p.Ala152Pro) c.541G>C (p.Ala181Pro) | |
2 | g.24841278C>T | CA346063940 | ADCY3 | c.1177G>A (p.Ala393Thr) c.445G>A (p.Ala149Thr) c.1027G>A (p.Ala343Thr) n.560G>A c.190G>A (p.Ala64Thr) c.511G>A (p.Ala171Thr) c.454G>A (p.Ala152Thr) c.541G>A (p.Ala181Thr) | gnomAD v4 |
2 | g.24841279del | CA2658143326 | ADCY3 | c.1177del (p.Ala393ProfsTer?) c.445del (p.Ala149ProfsTer?) c.1027del (p.Ala343ProfsTer?) n.560del c.190del (p.Ala64ProfsTer?) c.511del (p.Ala171ProfsTer?) c.454del (p.Ala152ProfsTer?) c.541del (p.Ala181ProfsTer?) | gnomAD v4 |
2 | g.24841279C>A | CA425176786 | ADCY3 | c.1176G>T (p.Leu392=) c.444G>T (p.Leu148=) c.1026G>T (p.Leu342=) n.559G>T c.189G>T (p.Leu63=) c.510G>T (p.Leu170=) c.453G>T (p.Leu151=) c.540G>T (p.Leu180=) | |
2 | g.24841279C= | CA1239081916 | ADCY3 | c.1176G= (p.Leu392=) c.444G= (p.Leu148=) c.1026G= (p.Leu342=) n.559G= c.189G= (p.Leu63=) c.510G= (p.Leu170=) c.453G= (p.Leu151=) c.540G= (p.Leu180=) | |
2 | g.24841279C>G | CA425176788 | ADCY3 | c.1176G>C (p.Leu392=) c.444G>C (p.Leu148=) c.1026G>C (p.Leu342=) n.559G>C c.189G>C (p.Leu63=) c.510G>C (p.Leu170=) c.453G>C (p.Leu151=) c.540G>C (p.Leu180=) | |
2 | g.24841279C>T | CA1554277 | ADCY3 | c.1176G>A (p.Leu392=) c.444G>A (p.Leu148=) c.1026G>A (p.Leu342=) n.559G>A c.189G>A (p.Leu63=) c.510G>A (p.Leu170=) c.453G>A (p.Leu151=) c.540G>A (p.Leu180=) | dbSNP ExAC gnomAD v2 |
2 | g.24841280A>C | CA346063950 | ADCY3 | c.1175T>G (p.Leu392Arg) c.443T>G (p.Leu148Arg) c.1025T>G (p.Leu342Arg) n.558T>G c.188T>G (p.Leu63Arg) c.509T>G (p.Leu170Arg) c.452T>G (p.Leu151Arg) c.539T>G (p.Leu180Arg) | |
2 | g.24841280A>G | CA346063947 | ADCY3 | c.1175T>C (p.Leu392Pro) c.443T>C (p.Leu148Pro) c.1025T>C (p.Leu342Pro) n.558T>C c.188T>C (p.Leu63Pro) c.509T>C (p.Leu170Pro) c.452T>C (p.Leu151Pro) c.539T>C (p.Leu180Pro) | gnomAD v4 |
2 | g.24841280A>T | CA346063951 | ADCY3 | c.1175T>A (p.Leu392Gln) c.443T>A (p.Leu148Gln) c.1025T>A (p.Leu342Gln) n.558T>A c.188T>A (p.Leu63Gln) c.509T>A (p.Leu170Gln) c.452T>A (p.Leu151Gln) c.539T>A (p.Leu180Gln) | |
2 | g.24841281G>A | CA425176796 | ADCY3 | c.1174C>T (p.Leu392=) c.442C>T (p.Leu148=) c.1024C>T (p.Leu342=) n.557C>T c.187C>T (p.Leu63=) c.508C>T (p.Leu170=) c.451C>T (p.Leu151=) c.538C>T (p.Leu180=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841281G>C | CA346063954 | ADCY3 | c.1174C>G (p.Leu392Val) c.442C>G (p.Leu148Val) c.1024C>G (p.Leu342Val) n.557C>G c.187C>G (p.Leu63Val) c.508C>G (p.Leu170Val) c.451C>G (p.Leu151Val) c.538C>G (p.Leu180Val) | |
2 | g.24841281G= | CA1239081917 | ADCY3 | c.1174C= (p.Leu392=) c.442C= (p.Leu148=) c.1024C= (p.Leu342=) n.557C= c.187C= (p.Leu63=) c.508C= (p.Leu170=) c.451C= (p.Leu151=) c.538C= (p.Leu180=) | |
2 | g.24841281G>T | CA346063956 | ADCY3 | c.1174C>A (p.Leu392Met) c.442C>A (p.Leu148Met) c.1024C>A (p.Leu342Met) n.557C>A c.187C>A (p.Leu63Met) c.508C>A (p.Leu170Met) c.451C>A (p.Leu151Met) c.538C>A (p.Leu180Met) | dbSNP gnomAD v4 |
2 | g.24841282C>A | CA425176803 | ADCY3 | c.1173G>T (p.Gly391=) c.441G>T (p.Gly147=) c.1023G>T (p.Gly341=) n.556G>T c.186G>T (p.Gly62=) c.507G>T (p.Gly169=) c.450G>T (p.Gly150=) c.537G>T (p.Gly179=) | gnomAD v4 |
2 | g.24841282C= | CA1239081918 | ADCY3 | c.1173G= (p.Gly391=) c.441G= (p.Gly147=) c.1023G= (p.Gly341=) n.556G= c.186G= (p.Gly62=) c.507G= (p.Gly169=) c.450G= (p.Gly150=) c.537G= (p.Gly179=) | |
2 | g.24841282C>G | CA425176804 | ADCY3 | c.1173G>C (p.Gly391=) c.441G>C (p.Gly147=) c.1023G>C (p.Gly341=) n.556G>C c.186G>C (p.Gly62=) c.507G>C (p.Gly169=) c.450G>C (p.Gly150=) c.537G>C (p.Gly179=) | |
2 | g.24841282C>T | CA425176805 | ADCY3 | c.1173G>A (p.Gly391=) c.441G>A (p.Gly147=) c.1023G>A (p.Gly341=) n.556G>A c.186G>A (p.Gly62=) c.507G>A (p.Gly169=) c.450G>A (p.Gly150=) c.537G>A (p.Gly179=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841283C>A | CA346063959 | ADCY3 | c.1172G>T (p.Gly391Val) c.440G>T (p.Gly147Val) c.1022G>T (p.Gly341Val) n.555G>T c.185G>T (p.Gly62Val) c.506G>T (p.Gly169Val) c.449G>T (p.Gly150Val) c.536G>T (p.Gly179Val) | dbSNP gnomAD v4 |
2 | g.24841283C>G | CA346063972 | ADCY3 | c.1172G>C (p.Gly391Ala) c.440G>C (p.Gly147Ala) c.1022G>C (p.Gly341Ala) n.555G>C c.185G>C (p.Gly62Ala) c.506G>C (p.Gly169Ala) c.449G>C (p.Gly150Ala) c.536G>C (p.Gly179Ala) | |
2 | g.24841283C>T | CA346063975 | ADCY3 | c.1172G>A (p.Gly391Glu) c.440G>A (p.Gly147Glu) c.1022G>A (p.Gly341Glu) n.555G>A c.185G>A (p.Gly62Glu) c.506G>A (p.Gly169Glu) c.449G>A (p.Gly150Glu) c.536G>A (p.Gly179Glu) | |
2 | g.24841284C>A | CA346063977 | ADCY3 | c.1171G>T (p.Gly391Trp) c.439G>T (p.Gly147Trp) c.1021G>T (p.Gly341Trp) n.554G>T c.184G>T (p.Gly62Trp) c.505G>T (p.Gly169Trp) c.448G>T (p.Gly150Trp) c.535G>T (p.Gly179Trp) | gnomAD v4 |
2 | g.24841284C>G | CA346063978 | ADCY3 | c.1171G>C (p.Gly391Arg) c.439G>C (p.Gly147Arg) c.1021G>C (p.Gly341Arg) n.554G>C c.184G>C (p.Gly62Arg) c.505G>C (p.Gly169Arg) c.448G>C (p.Gly150Arg) c.535G>C (p.Gly179Arg) | |
2 | g.24841284C>T | CA346063979 | ADCY3 | c.1171G>A (p.Gly391Arg) c.439G>A (p.Gly147Arg) c.1021G>A (p.Gly341Arg) n.554G>A c.184G>A (p.Gly62Arg) c.505G>A (p.Gly169Arg) c.448G>A (p.Gly150Arg) c.535G>A (p.Gly179Arg) | gnomAD v4 |
2 | g.24841285C>A | CA346063981 | ADCY3 | c.1170G>T (p.Met390Ile) c.438G>T (p.Met146Ile) c.1020G>T (p.Met340Ile) n.553G>T c.183G>T (p.Met61Ile) c.504G>T (p.Met168Ile) c.447G>T (p.Met149Ile) c.534G>T (p.Met178Ile) | |
2 | g.24841285C>G | CA346063983 | ADCY3 | c.1170G>C (p.Met390Ile) c.438G>C (p.Met146Ile) c.1020G>C (p.Met340Ile) n.553G>C c.183G>C (p.Met61Ile) c.504G>C (p.Met168Ile) c.447G>C (p.Met149Ile) c.534G>C (p.Met178Ile) | |
2 | g.24841285C>T | CA346063985 | ADCY3 | c.1170G>A (p.Met390Ile) c.438G>A (p.Met146Ile) c.1020G>A (p.Met340Ile) n.553G>A c.183G>A (p.Met61Ile) c.504G>A (p.Met168Ile) c.447G>A (p.Met149Ile) c.534G>A (p.Met178Ile) | |
2 | g.24841286A= | CA1239081919 | ADCY3 | c.1169T= (p.Met390=) c.437T= (p.Met146=) c.1019T= (p.Met340=) n.552T= c.182T= (p.Met61=) c.503T= (p.Met168=) c.446T= (p.Met149=) c.533T= (p.Met178=) | |
2 | g.24841286A>C | CA346063987 | ADCY3 | c.1169T>G (p.Met390Arg) c.437T>G (p.Met146Arg) c.1019T>G (p.Met340Arg) n.552T>G c.182T>G (p.Met61Arg) c.503T>G (p.Met168Arg) c.446T>G (p.Met149Arg) c.533T>G (p.Met178Arg) | |
2 | g.24841286A>G | CA346063988 | ADCY3 | c.1169T>C (p.Met390Thr) c.437T>C (p.Met146Thr) c.1019T>C (p.Met340Thr) n.552T>C c.182T>C (p.Met61Thr) c.503T>C (p.Met168Thr) c.446T>C (p.Met149Thr) c.533T>C (p.Met178Thr) | dbSNP gnomAD v4 |
2 | g.24841286A>T | CA346063990 | ADCY3 | c.1169T>A (p.Met390Lys) c.437T>A (p.Met146Lys) c.1019T>A (p.Met340Lys) n.552T>A c.182T>A (p.Met61Lys) c.503T>A (p.Met168Lys) c.446T>A (p.Met149Lys) c.533T>A (p.Met178Lys) | |
2 | g.24841287T>A | CA346063993 | ADCY3 | c.1168A>T (p.Met390Leu) c.436A>T (p.Met146Leu) c.1018A>T (p.Met340Leu) n.551A>T c.181A>T (p.Met61Leu) c.502A>T (p.Met168Leu) c.445A>T (p.Met149Leu) c.532A>T (p.Met178Leu) | |
2 | g.24841287T>C | CA346063991 | ADCY3 | c.1168A>G (p.Met390Val) c.436A>G (p.Met146Val) c.1018A>G (p.Met340Val) n.551A>G c.181A>G (p.Met61Val) c.502A>G (p.Met168Val) c.445A>G (p.Met149Val) c.532A>G (p.Met178Val) | |
2 | g.24841287T>G | CA346063992 | ADCY3 | c.1168A>C (p.Met390Leu) c.436A>C (p.Met146Leu) c.1018A>C (p.Met340Leu) n.551A>C c.181A>C (p.Met61Leu) c.502A>C (p.Met168Leu) c.445A>C (p.Met149Leu) c.532A>C (p.Met178Leu) | gnomAD v4 |
2 | g.24841287_24841298del | CA2576692500 | ADCY3 | c.1157_1168del (p.Cys386_Met390delinsLeu) c.425_436del (p.Cys142_Met146delinsLeu) c.1007_1018del (p.Cys336_Met340delinsLeu) n.540_551del c.170_181del (p.Cys57_Met61delinsLeu) c.491_502del (p.Cys164_Met168delinsLeu) c.434_445del (p.Cys145_Met149delinsLeu) c.521_532del (p.Cys174_Met178delinsLeu) | |
2 | g.24841288G>A | CA425176832 | ADCY3 | c.1167C>T (p.Leu389=) c.435C>T (p.Leu145=) c.1017C>T (p.Leu339=) n.550C>T c.180C>T (p.Leu60=) c.501C>T (p.Leu167=) c.444C>T (p.Leu148=) c.531C>T (p.Leu177=) | dbSNP gnomAD v4 |
2 | g.24841288G>C | CA1554278 | ADCY3 | c.1167C>G (p.Leu389=) c.435C>G (p.Leu145=) c.1017C>G (p.Leu339=) n.550C>G c.180C>G (p.Leu60=) c.501C>G (p.Leu167=) c.444C>G (p.Leu148=) c.531C>G (p.Leu177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841288G= | CA1239081920 | ADCY3 | c.1167C= (p.Leu389=) c.435C= (p.Leu145=) c.1017C= (p.Leu339=) n.550C= c.180C= (p.Leu60=) c.501C= (p.Leu167=) c.444C= (p.Leu148=) c.531C= (p.Leu177=) | |
2 | g.24841288G>T | CA425176836 | ADCY3 | c.1167C>A (p.Leu389=) c.435C>A (p.Leu145=) c.1017C>A (p.Leu339=) n.550C>A c.180C>A (p.Leu60=) c.501C>A (p.Leu167=) c.444C>A (p.Leu148=) c.531C>A (p.Leu177=) | |
2 | g.24841289A>C | CA346063994 | ADCY3 | c.1166T>G (p.Leu389Arg) c.434T>G (p.Leu145Arg) c.1016T>G (p.Leu339Arg) n.549T>G c.179T>G (p.Leu60Arg) c.500T>G (p.Leu167Arg) c.443T>G (p.Leu148Arg) c.530T>G (p.Leu177Arg) | |
2 | g.24841289A>G | CA346063995 | ADCY3 | c.1166T>C (p.Leu389Pro) c.434T>C (p.Leu145Pro) c.1016T>C (p.Leu339Pro) n.549T>C c.179T>C (p.Leu60Pro) c.500T>C (p.Leu167Pro) c.443T>C (p.Leu148Pro) c.530T>C (p.Leu177Pro) | |
2 | g.24841289A>T | CA346063996 | ADCY3 | c.1166T>A (p.Leu389His) c.434T>A (p.Leu145His) c.1016T>A (p.Leu339His) n.549T>A c.179T>A (p.Leu60His) c.500T>A (p.Leu167His) c.443T>A (p.Leu148His) c.530T>A (p.Leu177His) | |
2 | g.24841290G>A | CA43638464 | ADCY3 | c.1165C>T (p.Leu389Phe) c.433C>T (p.Leu145Phe) c.1015C>T (p.Leu339Phe) n.548C>T c.178C>T (p.Leu60Phe) c.499C>T (p.Leu167Phe) c.442C>T (p.Leu148Phe) c.529C>T (p.Leu177Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841290G>C | CA346063999 | ADCY3 | c.1165C>G (p.Leu389Val) c.433C>G (p.Leu145Val) c.1015C>G (p.Leu339Val) n.548C>G c.178C>G (p.Leu60Val) c.499C>G (p.Leu167Val) c.442C>G (p.Leu148Val) c.529C>G (p.Leu177Val) | |
2 | g.24841290G= | CA1239081921 | ADCY3 | c.1165C= (p.Leu389=) c.433C= (p.Leu145=) c.1015C= (p.Leu339=) n.548C= c.178C= (p.Leu60=) c.499C= (p.Leu167=) c.442C= (p.Leu148=) c.529C= (p.Leu177=) | |
2 | g.24841290G>T | CA346064000 | ADCY3 | c.1165C>A (p.Leu389Ile) c.433C>A (p.Leu145Ile) c.1015C>A (p.Leu339Ile) n.548C>A c.178C>A (p.Leu60Ile) c.499C>A (p.Leu167Ile) c.442C>A (p.Leu148Ile) c.529C>A (p.Leu177Ile) | gnomAD v4 |
2 | g.24841291G>A | CA425176846 | ADCY3 | c.1164C>T (p.Ile388=) c.432C>T (p.Ile144=) c.1014C>T (p.Ile338=) n.547C>T c.177C>T (p.Ile59=) c.498C>T (p.Ile166=) c.441C>T (p.Ile147=) c.528C>T (p.Ile176=) | |
2 | g.24841291G>C | CA346064002 | ADCY3 | c.1164C>G (p.Ile388Met) c.432C>G (p.Ile144Met) c.1014C>G (p.Ile338Met) n.547C>G c.177C>G (p.Ile59Met) c.498C>G (p.Ile166Met) c.441C>G (p.Ile147Met) c.528C>G (p.Ile176Met) | |
2 | g.24841291G>T | CA425176849 | ADCY3 | c.1164C>A (p.Ile388=) c.432C>A (p.Ile144=) c.1014C>A (p.Ile338=) n.547C>A c.177C>A (p.Ile59=) c.498C>A (p.Ile166=) c.441C>A (p.Ile147=) c.528C>A (p.Ile176=) | gnomAD v4 |
2 | g.24841292A= | CA1239081922 | ADCY3 | c.1163T= (p.Ile388=) c.431T= (p.Ile144=) c.1013T= (p.Ile338=) n.546T= c.176T= (p.Ile59=) c.497T= (p.Ile166=) c.440T= (p.Ile147=) c.527T= (p.Ile176=) | |
2 | g.24841292A>C | CA346064004 | ADCY3 | c.1163T>G (p.Ile388Ser) c.431T>G (p.Ile144Ser) c.1013T>G (p.Ile338Ser) n.546T>G c.176T>G (p.Ile59Ser) c.497T>G (p.Ile166Ser) c.440T>G (p.Ile147Ser) c.527T>G (p.Ile176Ser) | |
2 | g.24841292A>G | CA43638476 | ADCY3 | c.1163T>C (p.Ile388Thr) c.431T>C (p.Ile144Thr) c.1013T>C (p.Ile338Thr) n.546T>C c.176T>C (p.Ile59Thr) c.497T>C (p.Ile166Thr) c.440T>C (p.Ile147Thr) c.527T>C (p.Ile176Thr) | dbSNP gnomAD v4 |
2 | g.24841292A>T | CA346064005 | ADCY3 | c.1163T>A (p.Ile388Asn) c.431T>A (p.Ile144Asn) c.1013T>A (p.Ile338Asn) n.546T>A c.176T>A (p.Ile59Asn) c.497T>A (p.Ile166Asn) c.440T>A (p.Ile147Asn) c.527T>A (p.Ile176Asn) | |
2 | g.24841293T>A | CA346064008 | ADCY3 | c.1162A>T (p.Ile388Phe) c.430A>T (p.Ile144Phe) c.1012A>T (p.Ile338Phe) n.545A>T c.175A>T (p.Ile59Phe) c.496A>T (p.Ile166Phe) c.439A>T (p.Ile147Phe) c.526A>T (p.Ile176Phe) | gnomAD v4 |
2 | g.24841293T>C | CA346064007 | ADCY3 | c.1162A>G (p.Ile388Val) c.430A>G (p.Ile144Val) c.1012A>G (p.Ile338Val) n.545A>G c.175A>G (p.Ile59Val) c.496A>G (p.Ile166Val) c.439A>G (p.Ile147Val) c.526A>G (p.Ile176Val) | |
2 | g.24841293T>G | CA346064006 | ADCY3 | c.1162A>C (p.Ile388Leu) c.430A>C (p.Ile144Leu) c.1012A>C (p.Ile338Leu) n.545A>C c.175A>C (p.Ile59Leu) c.496A>C (p.Ile166Leu) c.439A>C (p.Ile147Leu) c.526A>C (p.Ile176Leu) | |
2 | g.24841294G>A | CA425176864 | ADCY3 | c.1161C>T (p.Ser387=) c.429C>T (p.Ser143=) c.1011C>T (p.Ser337=) n.544C>T c.174C>T (p.Ser58=) c.495C>T (p.Ser165=) c.438C>T (p.Ser146=) c.525C>T (p.Ser175=) | gnomAD v4 |
2 | g.24841294G>C | CA425176866 | ADCY3 | c.1161C>G (p.Ser387=) c.429C>G (p.Ser143=) c.1011C>G (p.Ser337=) n.544C>G c.174C>G (p.Ser58=) c.495C>G (p.Ser165=) c.438C>G (p.Ser146=) c.525C>G (p.Ser175=) | |
2 | g.24841294G>T | CA425176862 | ADCY3 | c.1161C>A (p.Ser387=) c.429C>A (p.Ser143=) c.1011C>A (p.Ser337=) n.544C>A c.174C>A (p.Ser58=) c.495C>A (p.Ser165=) c.438C>A (p.Ser146=) c.525C>A (p.Ser175=) | |
2 | g.24841295G>A | CA1554279 | ADCY3 | c.1160C>T (p.Ser387Phe) c.428C>T (p.Ser143Phe) c.1010C>T (p.Ser337Phe) n.543C>T c.173C>T (p.Ser58Phe) c.494C>T (p.Ser165Phe) c.437C>T (p.Ser146Phe) c.524C>T (p.Ser175Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24841295G>C | CA346064010 | ADCY3 | c.1160C>G (p.Ser387Cys) c.428C>G (p.Ser143Cys) c.1010C>G (p.Ser337Cys) n.543C>G c.173C>G (p.Ser58Cys) c.494C>G (p.Ser165Cys) c.437C>G (p.Ser146Cys) c.524C>G (p.Ser175Cys) | |
2 | g.24841295G= | CA1239081923 | ADCY3 | c.1160C= (p.Ser387=) c.428C= (p.Ser143=) c.1010C= (p.Ser337=) n.543C= c.173C= (p.Ser58=) c.494C= (p.Ser165=) c.437C= (p.Ser146=) c.524C= (p.Ser175=) | |
2 | g.24841295G>T | CA346064011 | ADCY3 | c.1160C>A (p.Ser387Tyr) c.428C>A (p.Ser143Tyr) c.1010C>A (p.Ser337Tyr) n.543C>A c.173C>A (p.Ser58Tyr) c.494C>A (p.Ser165Tyr) c.437C>A (p.Ser146Tyr) c.524C>A (p.Ser175Tyr) | gnomAD v4 |
2 | g.24841296A>C | CA346064013 | ADCY3 | c.1159T>G (p.Ser387Ala) c.427T>G (p.Ser143Ala) c.1009T>G (p.Ser337Ala) n.542T>G c.172T>G (p.Ser58Ala) c.493T>G (p.Ser165Ala) c.436T>G (p.Ser146Ala) c.523T>G (p.Ser175Ala) | |
2 | g.24841296A>G | CA346064014 | ADCY3 | c.1159T>C (p.Ser387Pro) c.427T>C (p.Ser143Pro) c.1009T>C (p.Ser337Pro) n.542T>C c.172T>C (p.Ser58Pro) c.493T>C (p.Ser165Pro) c.436T>C (p.Ser146Pro) c.523T>C (p.Ser175Pro) | gnomAD v4 |
2 | g.24841296A>T | CA346064015 | ADCY3 | c.1159T>A (p.Ser387Thr) c.427T>A (p.Ser143Thr) c.1009T>A (p.Ser337Thr) n.542T>A c.172T>A (p.Ser58Thr) c.493T>A (p.Ser165Thr) c.436T>A (p.Ser146Thr) c.523T>A (p.Ser175Thr) | gnomAD v4 |
2 | g.24841297G>A | CA425176879 | ADCY3 | c.1158C>T (p.Cys386=) c.426C>T (p.Cys142=) c.1008C>T (p.Cys336=) n.541C>T c.171C>T (p.Cys57=) c.492C>T (p.Cys164=) c.435C>T (p.Cys145=) c.522C>T (p.Cys174=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841297G>C | CA346064016 | ADCY3 | c.1158C>G (p.Cys386Trp) c.426C>G (p.Cys142Trp) c.1008C>G (p.Cys336Trp) n.541C>G c.171C>G (p.Cys57Trp) c.492C>G (p.Cys164Trp) c.435C>G (p.Cys145Trp) c.522C>G (p.Cys174Trp) | |
2 | g.24841297G= | CA1239081924 | ADCY3 | c.1158C= (p.Cys386=) c.426C= (p.Cys142=) c.1008C= (p.Cys336=) n.541C= c.171C= (p.Cys57=) c.492C= (p.Cys164=) c.435C= (p.Cys145=) c.522C= (p.Cys174=) | |
2 | g.24841297G>T | CA346064017 | ADCY3 | c.1158C>A (p.Cys386Ter) c.426C>A (p.Cys142Ter) c.1008C>A (p.Cys336Ter) n.541C>A c.171C>A (p.Cys57Ter) c.492C>A (p.Cys164Ter) c.435C>A (p.Cys145Ter) c.522C>A (p.Cys174Ter) | gnomAD v4 |
2 | g.24841298C>A | CA346064018 | ADCY3 | c.1157G>T (p.Cys386Phe) c.425G>T (p.Cys142Phe) c.1007G>T (p.Cys336Phe) n.540G>T c.170G>T (p.Cys57Phe) c.491G>T (p.Cys164Phe) c.434G>T (p.Cys145Phe) c.521G>T (p.Cys174Phe) | gnomAD v4 |
2 | g.24841298C>G | CA346064019 | ADCY3 | c.1157G>C (p.Cys386Ser) c.425G>C (p.Cys142Ser) c.1007G>C (p.Cys336Ser) n.540G>C c.170G>C (p.Cys57Ser) c.491G>C (p.Cys164Ser) c.434G>C (p.Cys145Ser) c.521G>C (p.Cys174Ser) | |
2 | g.24841298C>T | CA346064021 | ADCY3 | c.1157G>A (p.Cys386Tyr) c.425G>A (p.Cys142Tyr) c.1007G>A (p.Cys336Tyr) n.540G>A c.170G>A (p.Cys57Tyr) c.491G>A (p.Cys164Tyr) c.434G>A (p.Cys145Tyr) c.521G>A (p.Cys174Tyr) | gnomAD v4 |
2 | g.24841299A>C | CA346064025 | ADCY3 | c.1156T>G (p.Cys386Gly) c.424T>G (p.Cys142Gly) c.1006T>G (p.Cys336Gly) n.539T>G c.169T>G (p.Cys57Gly) c.490T>G (p.Cys164Gly) c.433T>G (p.Cys145Gly) c.520T>G (p.Cys174Gly) | |
2 | g.24841299A>G | CA346064024 | ADCY3 | c.1156T>C (p.Cys386Arg) c.424T>C (p.Cys142Arg) c.1006T>C (p.Cys336Arg) n.539T>C c.169T>C (p.Cys57Arg) c.490T>C (p.Cys164Arg) c.433T>C (p.Cys145Arg) c.520T>C (p.Cys174Arg) | |
2 | g.24841299A>T | CA346064023 | ADCY3 | c.1156T>A (p.Cys386Ser) c.424T>A (p.Cys142Ser) c.1006T>A (p.Cys336Ser) n.539T>A c.169T>A (p.Cys57Ser) c.490T>A (p.Cys164Ser) c.433T>A (p.Cys145Ser) c.520T>A (p.Cys174Ser) | |
2 | g.24841299_24841304del | CA2658143357 | ADCY3 | c.1151_1156del (p.Ala384_Cys386delinsGly) c.419_424del (p.Ala140_Cys142delinsGly) c.1001_1006del (p.Ala334_Cys336delinsGly) n.534_539del c.164_169del (p.Ala55_Cys57delinsGly) c.485_490del (p.Ala162_Cys164delinsGly) c.428_433del (p.Ala143_Cys145delinsGly) c.515_520del (p.Ala172_Cys174delinsGly) | gnomAD v4 |
2 | g.24841300G>A | CA425176892 | ADCY3 | c.1155C>T (p.Val385=) c.423C>T (p.Val141=) c.1005C>T (p.Val335=) n.538C>T c.168C>T (p.Val56=) c.489C>T (p.Val163=) c.432C>T (p.Val144=) c.519C>T (p.Val173=) | |
2 | g.24841300G>C | CA425176896 | ADCY3 | c.1155C>G (p.Val385=) c.423C>G (p.Val141=) c.1005C>G (p.Val335=) n.538C>G c.168C>G (p.Val56=) c.489C>G (p.Val163=) c.432C>G (p.Val144=) c.519C>G (p.Val173=) | |
2 | g.24841300G>T | CA425176894 | ADCY3 | c.1155C>A (p.Val385=) c.423C>A (p.Val141=) c.1005C>A (p.Val335=) n.538C>A c.168C>A (p.Val56=) c.489C>A (p.Val163=) c.432C>A (p.Val144=) c.519C>A (p.Val173=) | gnomAD v4 |
2 | g.24841301A>C | CA346064026 | ADCY3 | c.1154T>G (p.Val385Gly) c.422T>G (p.Val141Gly) c.1004T>G (p.Val335Gly) n.537T>G c.167T>G (p.Val56Gly) c.488T>G (p.Val163Gly) c.431T>G (p.Val144Gly) c.518T>G (p.Val173Gly) | |
2 | g.24841301A>G | CA346064027 | ADCY3 | c.1154T>C (p.Val385Ala) c.422T>C (p.Val141Ala) c.1004T>C (p.Val335Ala) n.537T>C c.167T>C (p.Val56Ala) c.488T>C (p.Val163Ala) c.431T>C (p.Val144Ala) c.518T>C (p.Val173Ala) | |
2 | g.24841301A>T | CA346064029 | ADCY3 | c.1154T>A (p.Val385Asp) c.422T>A (p.Val141Asp) c.1004T>A (p.Val335Asp) n.537T>A c.167T>A (p.Val56Asp) c.488T>A (p.Val163Asp) c.431T>A (p.Val144Asp) c.518T>A (p.Val173Asp) | |
2 | g.24841302C>A | CA346064031 | ADCY3 | c.1153G>T (p.Val385Phe) c.421G>T (p.Val141Phe) c.1003G>T (p.Val335Phe) n.536G>T c.166G>T (p.Val56Phe) c.487G>T (p.Val163Phe) c.430G>T (p.Val144Phe) c.517G>T (p.Val173Phe) | gnomAD v4 |
2 | g.24841302C= | CA1239081925 | ADCY3 | c.1153G= (p.Val385=) c.421G= (p.Val141=) c.1003G= (p.Val335=) n.536G= c.166G= (p.Val56=) c.487G= (p.Val163=) c.430G= (p.Val144=) c.517G= (p.Val173=) | |
2 | g.24841302C>G | CA346064033 | ADCY3 | c.1153G>C (p.Val385Leu) c.421G>C (p.Val141Leu) c.1003G>C (p.Val335Leu) n.536G>C c.166G>C (p.Val56Leu) c.487G>C (p.Val163Leu) c.430G>C (p.Val144Leu) c.517G>C (p.Val173Leu) | |
2 | g.24841302C>T | CA1554280 | ADCY3 | c.1153G>A (p.Val385Ile) c.421G>A (p.Val141Ile) c.1003G>A (p.Val335Ile) n.536G>A c.166G>A (p.Val56Ile) c.487G>A (p.Val163Ile) c.430G>A (p.Val144Ile) c.517G>A (p.Val173Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841303G>A | CA1554281 | ADCY3 | c.1152C>T (p.Ala384=) c.420C>T (p.Ala140=) c.1002C>T (p.Ala334=) n.535C>T c.165C>T (p.Ala55=) c.486C>T (p.Ala162=) c.429C>T (p.Ala143=) c.516C>T (p.Ala172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841303G>C | CA43638495 | ADCY3 | c.1152C>G (p.Ala384=) c.420C>G (p.Ala140=) c.1002C>G (p.Ala334=) n.535C>G c.165C>G (p.Ala55=) c.486C>G (p.Ala162=) c.429C>G (p.Ala143=) c.516C>G (p.Ala172=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841303G= | CA1239081926 | ADCY3 | c.1152C= (p.Ala384=) c.420C= (p.Ala140=) c.1002C= (p.Ala334=) n.535C= c.165C= (p.Ala55=) c.486C= (p.Ala162=) c.429C= (p.Ala143=) c.516C= (p.Ala172=) | |
2 | g.24841303G>T | CA425176907 | ADCY3 | c.1152C>A (p.Ala384=) c.420C>A (p.Ala140=) c.1002C>A (p.Ala334=) n.535C>A c.165C>A (p.Ala55=) c.486C>A (p.Ala162=) c.429C>A (p.Ala143=) c.516C>A (p.Ala172=) | |
2 | g.24841304G>A | CA346064035 | ADCY3 | c.1151C>T (p.Ala384Val) c.419C>T (p.Ala140Val) c.1001C>T (p.Ala334Val) n.534C>T c.164C>T (p.Ala55Val) c.485C>T (p.Ala162Val) c.428C>T (p.Ala143Val) c.515C>T (p.Ala172Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841304G>C | CA346064037 | ADCY3 | c.1151C>G (p.Ala384Gly) c.419C>G (p.Ala140Gly) c.1001C>G (p.Ala334Gly) n.534C>G c.164C>G (p.Ala55Gly) c.485C>G (p.Ala162Gly) c.428C>G (p.Ala143Gly) c.515C>G (p.Ala172Gly) | |
2 | g.24841304G= | CA1239081927 | ADCY3 | c.1151C= (p.Ala384=) c.419C= (p.Ala140=) c.1001C= (p.Ala334=) n.534C= c.164C= (p.Ala55=) c.485C= (p.Ala162=) c.428C= (p.Ala143=) c.515C= (p.Ala172=) | |
2 | g.24841304G>T | CA346064038 | ADCY3 | c.1151C>A (p.Ala384Asp) c.419C>A (p.Ala140Asp) c.1001C>A (p.Ala334Asp) n.534C>A c.164C>A (p.Ala55Asp) c.485C>A (p.Ala162Asp) c.428C>A (p.Ala143Asp) c.515C>A (p.Ala172Asp) | |
2 | g.24841305C>A | CA346064040 | ADCY3 | c.1150G>T (p.Ala384Ser) c.418G>T (p.Ala140Ser) c.1000G>T (p.Ala334Ser) n.533G>T c.163G>T (p.Ala55Ser) c.484G>T (p.Ala162Ser) c.427G>T (p.Ala143Ser) c.514G>T (p.Ala172Ser) | gnomAD v4 |
2 | g.24841305C>G | CA346064041 | ADCY3 | c.1150G>C (p.Ala384Pro) c.418G>C (p.Ala140Pro) c.1000G>C (p.Ala334Pro) n.533G>C c.163G>C (p.Ala55Pro) c.484G>C (p.Ala162Pro) c.427G>C (p.Ala143Pro) c.514G>C (p.Ala172Pro) | |
2 | g.24841305C>T | CA346064043 | ADCY3 | c.1150G>A (p.Ala384Thr) c.418G>A (p.Ala140Thr) c.1000G>A (p.Ala334Thr) n.533G>A c.163G>A (p.Ala55Thr) c.484G>A (p.Ala162Thr) c.427G>A (p.Ala143Thr) c.514G>A (p.Ala172Thr) | gnomAD v4 |
2 | g.24841306G>A | CA43638501 | ADCY3 | c.1149C>T (p.His383=) c.417C>T (p.His139=) c.999C>T (p.His333=) n.532C>T c.162C>T (p.His54=) c.483C>T (p.His161=) c.426C>T (p.His142=) c.513C>T (p.His171=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841306G>C | CA346064047 | ADCY3 | c.1149C>G (p.His383Gln) c.417C>G (p.His139Gln) c.999C>G (p.His333Gln) n.532C>G c.162C>G (p.His54Gln) c.483C>G (p.His161Gln) c.426C>G (p.His142Gln) c.513C>G (p.His171Gln) | gnomAD v4 |
2 | g.24841306G= | CA1239081928 | ADCY3 | c.1149C= (p.His383=) c.417C= (p.His139=) c.999C= (p.His333=) n.532C= c.162C= (p.His54=) c.483C= (p.His161=) c.426C= (p.His142=) c.513C= (p.His171=) | |
2 | g.24841306G>T | CA346064045 | ADCY3 | c.1149C>A (p.His383Gln) c.417C>A (p.His139Gln) c.999C>A (p.His333Gln) n.532C>A c.162C>A (p.His54Gln) c.483C>A (p.His161Gln) c.426C>A (p.His142Gln) c.513C>A (p.His171Gln) | |
2 | g.24841307T>A | CA346064051 | ADCY3 | c.1148A>T (p.His383Leu) c.416A>T (p.His139Leu) c.998A>T (p.His333Leu) n.531A>T c.161A>T (p.His54Leu) c.482A>T (p.His161Leu) c.425A>T (p.His142Leu) c.512A>T (p.His171Leu) | |
2 | g.24841307T>C | CA346064049 | ADCY3 | c.1148A>G (p.His383Arg) c.416A>G (p.His139Arg) c.998A>G (p.His333Arg) n.531A>G c.161A>G (p.His54Arg) c.482A>G (p.His161Arg) c.425A>G (p.His142Arg) c.512A>G (p.His171Arg) | |
2 | g.24841307T>G | CA346064050 | ADCY3 | c.1148A>C (p.His383Pro) c.416A>C (p.His139Pro) c.998A>C (p.His333Pro) n.531A>C c.161A>C (p.His54Pro) c.482A>C (p.His161Pro) c.425A>C (p.His142Pro) c.512A>C (p.His171Pro) | |
2 | g.24841308G>A | CA346064053 | ADCY3 | c.1147C>T (p.His383Tyr) c.415C>T (p.His139Tyr) c.997C>T (p.His333Tyr) n.530C>T c.160C>T (p.His54Tyr) c.481C>T (p.His161Tyr) c.424C>T (p.His142Tyr) c.511C>T (p.His171Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841308G>C | CA346064056 | ADCY3 | c.1147C>G (p.His383Asp) c.415C>G (p.His139Asp) c.997C>G (p.His333Asp) n.530C>G c.160C>G (p.His54Asp) c.481C>G (p.His161Asp) c.424C>G (p.His142Asp) c.511C>G (p.His171Asp) | |
2 | g.24841308G= | CA1239081929 | ADCY3 | c.1147C= (p.His383=) c.415C= (p.His139=) c.997C= (p.His333=) n.530C= c.160C= (p.His54=) c.481C= (p.His161=) c.424C= (p.His142=) c.511C= (p.His171=) | |
2 | g.24841308G>T | CA346064058 | ADCY3 | c.1147C>A (p.His383Asn) c.415C>A (p.His139Asn) c.997C>A (p.His333Asn) n.530C>A c.160C>A (p.His54Asn) c.481C>A (p.His161Asn) c.424C>A (p.His142Asn) c.511C>A (p.His171Asn) | |
2 | g.24841309G>A | CA425176931 | ADCY3 | c.1146C>T (p.Asp382=) c.414C>T (p.Asp138=) c.996C>T (p.Asp332=) n.529C>T c.159C>T (p.Asp53=) c.480C>T (p.Asp160=) c.423C>T (p.Asp141=) c.510C>T (p.Asp170=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.24841309G>C | CA346064060 | ADCY3 | c.1146C>G (p.Asp382Glu) c.414C>G (p.Asp138Glu) c.996C>G (p.Asp332Glu) n.529C>G c.159C>G (p.Asp53Glu) c.480C>G (p.Asp160Glu) c.423C>G (p.Asp141Glu) c.510C>G (p.Asp170Glu) | |
2 | g.24841309G= | CA1239081930 | ADCY3 | c.1146C= (p.Asp382=) c.414C= (p.Asp138=) c.996C= (p.Asp332=) n.529C= c.159C= (p.Asp53=) c.480C= (p.Asp160=) c.423C= (p.Asp141=) c.510C= (p.Asp170=) | |
2 | g.24841309G>T | CA346064061 | ADCY3 | c.1146C>A (p.Asp382Glu) c.414C>A (p.Asp138Glu) c.996C>A (p.Asp332Glu) n.529C>A c.159C>A (p.Asp53Glu) c.480C>A (p.Asp160Glu) c.423C>A (p.Asp141Glu) c.510C>A (p.Asp170Glu) | |
2 | g.24841310T>A | CA346064064 | ADCY3 | c.1145A>T (p.Asp382Val) c.413A>T (p.Asp138Val) c.995A>T (p.Asp332Val) n.528A>T c.158A>T (p.Asp53Val) c.479A>T (p.Asp160Val) c.422A>T (p.Asp141Val) c.509A>T (p.Asp170Val) | |
2 | g.24841310T>C | CA346064065 | ADCY3 | c.1145A>G (p.Asp382Gly) c.413A>G (p.Asp138Gly) c.995A>G (p.Asp332Gly) n.528A>G c.158A>G (p.Asp53Gly) c.479A>G (p.Asp160Gly) c.422A>G (p.Asp141Gly) c.509A>G (p.Asp170Gly) | |
2 | g.24841310T>G | CA346064067 | ADCY3 | c.1145A>C (p.Asp382Ala) c.413A>C (p.Asp138Ala) c.995A>C (p.Asp332Ala) n.528A>C c.158A>C (p.Asp53Ala) c.479A>C (p.Asp160Ala) c.422A>C (p.Asp141Ala) c.509A>C (p.Asp170Ala) | |
2 | g.24841311C>A | CA346064070 | ADCY3 | c.1144G>T (p.Asp382Tyr) c.412G>T (p.Asp138Tyr) c.994G>T (p.Asp332Tyr) n.527G>T c.157G>T (p.Asp53Tyr) c.478G>T (p.Asp160Tyr) c.421G>T (p.Asp141Tyr) c.508G>T (p.Asp170Tyr) | gnomAD v4 |
2 | g.24841311C>G | CA346064072 | ADCY3 | c.1144G>C (p.Asp382His) c.412G>C (p.Asp138His) c.994G>C (p.Asp332His) n.527G>C c.157G>C (p.Asp53His) c.478G>C (p.Asp160His) c.421G>C (p.Asp141His) c.508G>C (p.Asp170His) | |
2 | g.24841311C>T | CA346064073 | ADCY3 | c.1144G>A (p.Asp382Asn) c.412G>A (p.Asp138Asn) c.994G>A (p.Asp332Asn) n.527G>A c.157G>A (p.Asp53Asn) c.478G>A (p.Asp160Asn) c.421G>A (p.Asp141Asn) c.508G>A (p.Asp170Asn) | gnomAD v4 |
2 | g.24841312C>A | CA346064078 | ADCY3 | c.1143G>T (p.Glu381Asp) c.411G>T (p.Glu137Asp) c.993G>T (p.Glu331Asp) n.526G>T c.156G>T (p.Glu52Asp) c.477G>T (p.Glu159Asp) c.420G>T (p.Glu140Asp) c.507G>T (p.Glu169Asp) | gnomAD v4 |
2 | g.24841312C= | CA1239081931 | ADCY3 | c.1143G= (p.Glu381=) c.411G= (p.Glu137=) c.993G= (p.Glu331=) n.526G= c.156G= (p.Glu52=) c.477G= (p.Glu159=) c.420G= (p.Glu140=) c.507G= (p.Glu169=) | |
2 | g.24841312C>G | CA346064075 | ADCY3 | c.1143G>C (p.Glu381Asp) c.411G>C (p.Glu137Asp) c.993G>C (p.Glu331Asp) n.526G>C c.156G>C (p.Glu52Asp) c.477G>C (p.Glu159Asp) c.420G>C (p.Glu140Asp) c.507G>C (p.Glu169Asp) | |
2 | g.24841312C>T | CA1554282 | ADCY3 | c.1143G>A (p.Glu381=) c.411G>A (p.Glu137=) c.993G>A (p.Glu331=) n.526G>A c.156G>A (p.Glu52=) c.477G>A (p.Glu159=) c.420G>A (p.Glu140=) c.507G>A (p.Glu169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.24841313T>A | CA346064080 | ADCY3 | c.1142A>T (p.Glu381Val) c.410A>T (p.Glu137Val) c.992A>T (p.Glu331Val) n.525A>T c.155A>T (p.Glu52Val) c.476A>T (p.Glu159Val) c.419A>T (p.Glu140Val) c.506A>T (p.Glu169Val) | |
2 | g.24841313T>C | CA346064081 | ADCY3 | c.1142A>G (p.Glu381Gly) c.410A>G (p.Glu137Gly) c.992A>G (p.Glu331Gly) n.525A>G c.155A>G (p.Glu52Gly) c.476A>G (p.Glu159Gly) c.419A>G (p.Glu140Gly) c.506A>G (p.Glu169Gly) | |
2 | g.24841313T>G | CA346064082 | ADCY3 | c.1142A>C (p.Glu381Ala) c.410A>C (p.Glu137Ala) c.992A>C (p.Glu331Ala) n.525A>C c.155A>C (p.Glu52Ala) c.476A>C (p.Glu159Ala) c.419A>C (p.Glu140Ala) c.506A>C (p.Glu169Ala) | |
2 | g.24841314C>A | CA1554283 | ADCY3 | c.1141G>T (p.Glu381Ter) c.409G>T (p.Glu137Ter) c.991G>T (p.Glu331Ter) n.524G>T c.154G>T (p.Glu52Ter) c.475G>T (p.Glu159Ter) c.418G>T (p.Glu140Ter) c.505G>T (p.Glu169Ter) | dbSNP ExAC COSMIC |
2 | g.24841314C= | CA1239081932 | ADCY3 | c.1141G= (p.Glu381=) c.409G= (p.Glu137=) c.991G= (p.Glu331=) n.524G= c.154G= (p.Glu52=) c.475G= (p.Glu159=) c.418G= (p.Glu140=) c.505G= (p.Glu169=) | |
2 | g.24841314C>G | CA346064085 | ADCY3 | c.1141G>C (p.Glu381Gln) c.409G>C (p.Glu137Gln) c.991G>C (p.Glu331Gln) n.524G>C c.154G>C (p.Glu52Gln) c.475G>C (p.Glu159Gln) c.418G>C (p.Glu140Gln) c.505G>C (p.Glu169Gln) | |
2 | g.24841314C>T | CA346064087 | ADCY3 | c.1141G>A (p.Glu381Lys) c.409G>A (p.Glu137Lys) c.991G>A (p.Glu331Lys) n.524G>A c.154G>A (p.Glu52Lys) c.475G>A (p.Glu159Lys) c.418G>A (p.Glu140Lys) c.505G>A (p.Glu169Lys) | |
2 | g.24841315C>A | CA425176948 | ADCY3 | c.1140G>T (p.Arg380=) c.408G>T (p.Arg136=) c.990G>T (p.Arg330=) n.523G>T c.153G>T (p.Arg51=) c.474G>T (p.Arg158=) c.417G>T (p.Arg139=) c.504G>T (p.Arg168=) | gnomAD v4 |
2 | g.24841315C= | CA1239081933 | ADCY3 | c.1140G= (p.Arg380=) c.408G= (p.Arg136=) c.990G= (p.Arg330=) n.523G= c.153G= (p.Arg51=) c.474G= (p.Arg158=) c.417G= (p.Arg139=) c.504G= (p.Arg168=) | |
2 | g.24841315C>G | CA425176949 | ADCY3 | c.1140G>C (p.Arg380=) c.408G>C (p.Arg136=) c.990G>C (p.Arg330=) n.523G>C c.153G>C (p.Arg51=) c.474G>C (p.Arg158=) c.417G>C (p.Arg139=) c.504G>C (p.Arg168=) | |
2 | g.24841315C>T | CA1554284 | ADCY3 | c.1140G>A (p.Arg380=) c.408G>A (p.Arg136=) c.990G>A (p.Arg330=) n.523G>A c.153G>A (p.Arg51=) c.474G>A (p.Arg158=) c.417G>A (p.Arg139=) c.504G>A (p.Arg168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841316C>A | CA346064088 | ADCY3 | c.1139G>T (p.Arg380Leu) c.407G>T (p.Arg136Leu) c.989G>T (p.Arg330Leu) n.522G>T c.152G>T (p.Arg51Leu) c.473G>T (p.Arg158Leu) c.416G>T (p.Arg139Leu) c.503G>T (p.Arg168Leu) | |
2 | g.24841316C= | CA1239081934 | ADCY3 | c.1139G= (p.Arg380=) c.407G= (p.Arg136=) c.989G= (p.Arg330=) n.522G= c.152G= (p.Arg51=) c.473G= (p.Arg158=) c.416G= (p.Arg139=) c.503G= (p.Arg168=) | |
2 | g.24841316C>G | CA346064090 | ADCY3 | c.1139G>C (p.Arg380Pro) c.407G>C (p.Arg136Pro) c.989G>C (p.Arg330Pro) n.522G>C c.152G>C (p.Arg51Pro) c.473G>C (p.Arg158Pro) c.416G>C (p.Arg139Pro) c.503G>C (p.Arg168Pro) | |
2 | g.24841316C>T | CA1554285 | ADCY3 | c.1139G>A (p.Arg380Gln) c.407G>A (p.Arg136Gln) c.989G>A (p.Arg330Gln) n.522G>A c.152G>A (p.Arg51Gln) c.473G>A (p.Arg158Gln) c.416G>A (p.Arg139Gln) c.503G>A (p.Arg168Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.24841317G>A | CA346064093 | ADCY3 | c.1138C>T (p.Arg380Trp) c.406C>T (p.Arg136Trp) c.988C>T (p.Arg330Trp) n.521C>T c.151C>T (p.Arg51Trp) c.472C>T (p.Arg158Trp) c.415C>T (p.Arg139Trp) c.502C>T (p.Arg168Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841317G>C | CA346064094 | ADCY3 | c.1138C>G (p.Arg380Gly) c.406C>G (p.Arg136Gly) c.988C>G (p.Arg330Gly) n.521C>G c.151C>G (p.Arg51Gly) c.472C>G (p.Arg158Gly) c.415C>G (p.Arg139Gly) c.502C>G (p.Arg168Gly) | |
2 | g.24841317G= | CA1239081935 | ADCY3 | c.1138C= (p.Arg380=) c.406C= (p.Arg136=) c.988C= (p.Arg330=) n.521C= c.151C= (p.Arg51=) c.472C= (p.Arg158=) c.415C= (p.Arg139=) c.502C= (p.Arg168=) | |
2 | g.24841317G>T | CA425176950 | ADCY3 | c.1138C>A (p.Arg380=) c.406C>A (p.Arg136=) c.988C>A (p.Arg330=) n.521C>A c.151C>A (p.Arg51=) c.472C>A (p.Arg158=) c.415C>A (p.Arg139=) c.502C>A (p.Arg168=) | gnomAD v4 |
2 | g.24841318G>A | CA425176951 | ADCY3 | c.1137C>T (p.Tyr379=) c.405C>T (p.Tyr135=) c.987C>T (p.Tyr329=) n.520C>T c.150C>T (p.Tyr50=) c.471C>T (p.Tyr157=) c.414C>T (p.Tyr138=) c.501C>T (p.Tyr167=) | gnomAD v4 |
2 | g.24841318G>C | CA346064097 | ADCY3 | c.1137C>G (p.Tyr379Ter) c.405C>G (p.Tyr135Ter) c.987C>G (p.Tyr329Ter) n.520C>G c.150C>G (p.Tyr50Ter) c.471C>G (p.Tyr157Ter) c.414C>G (p.Tyr138Ter) c.501C>G (p.Tyr167Ter) | COSMIC |
2 | g.24841318G>T | CA346064096 | ADCY3 | c.1137C>A (p.Tyr379Ter) c.405C>A (p.Tyr135Ter) c.987C>A (p.Tyr329Ter) n.520C>A c.150C>A (p.Tyr50Ter) c.471C>A (p.Tyr157Ter) c.414C>A (p.Tyr138Ter) c.501C>A (p.Tyr167Ter) | gnomAD v4 |
2 | g.24841319T>A | CA346064099 | ADCY3 | c.1136A>T (p.Tyr379Phe) c.404A>T (p.Tyr135Phe) c.986A>T (p.Tyr329Phe) n.519A>T c.149A>T (p.Tyr50Phe) c.470A>T (p.Tyr157Phe) c.413A>T (p.Tyr138Phe) c.500A>T (p.Tyr167Phe) | dbSNP |
2 | g.24841319T>C | CA346064102 | ADCY3 | c.1136A>G (p.Tyr379Cys) c.404A>G (p.Tyr135Cys) c.986A>G (p.Tyr329Cys) n.519A>G c.149A>G (p.Tyr50Cys) c.470A>G (p.Tyr157Cys) c.413A>G (p.Tyr138Cys) c.500A>G (p.Tyr167Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841319T>G | CA346064100 | ADCY3 | c.1136A>C (p.Tyr379Ser) c.404A>C (p.Tyr135Ser) c.986A>C (p.Tyr329Ser) n.519A>C c.149A>C (p.Tyr50Ser) c.470A>C (p.Tyr157Ser) c.413A>C (p.Tyr138Ser) c.500A>C (p.Tyr167Ser) | dbSNP |
2 | g.24841319T= | CA1239081936 | ADCY3 | c.1136A= (p.Tyr379=) c.404A= (p.Tyr135=) c.986A= (p.Tyr329=) n.519A= c.149A= (p.Tyr50=) c.470A= (p.Tyr157=) c.413A= (p.Tyr138=) c.500A= (p.Tyr167=) | |
2 | g.24841319_24841320dup | CA2658143384 | ADCY3 | c.1135_1136dup (p.Arg380ThrfsTer?) c.403_404dup (p.Arg136ThrfsTer?) c.985_986dup (p.Arg330ThrfsTer?) n.518_519dup c.148_149dup (p.Arg51ThrfsTer?) c.469_470dup (p.Arg158ThrfsTer?) c.412_413dup (p.Arg139ThrfsTer?) c.499_500dup (p.Arg168ThrfsTer?) | gnomAD v4 |
2 | g.24841320A>C | CA346064105 | ADCY3 | c.1135T>G (p.Tyr379Asp) c.403T>G (p.Tyr135Asp) c.985T>G (p.Tyr329Asp) n.518T>G c.148T>G (p.Tyr50Asp) c.469T>G (p.Tyr157Asp) c.412T>G (p.Tyr138Asp) c.499T>G (p.Tyr167Asp) | |
2 | g.24841320A>G | CA346064106 | ADCY3 | c.1135T>C (p.Tyr379His) c.403T>C (p.Tyr135His) c.985T>C (p.Tyr329His) n.518T>C c.148T>C (p.Tyr50His) c.469T>C (p.Tyr157His) c.412T>C (p.Tyr138His) c.499T>C (p.Tyr167His) | |
2 | g.24841320A>T | CA346064107 | ADCY3 | c.1135T>A (p.Tyr379Asn) c.403T>A (p.Tyr135Asn) c.985T>A (p.Tyr329Asn) n.518T>A c.148T>A (p.Tyr50Asn) c.469T>A (p.Tyr157Asn) c.412T>A (p.Tyr138Asn) c.499T>A (p.Tyr167Asn) | |
2 | g.24841321G>A | CA1554286 | ADCY3 | c.1134C>T (p.Asp378=) c.402C>T (p.Asp134=) c.984C>T (p.Asp328=) n.517C>T c.147C>T (p.Asp49=) c.468C>T (p.Asp156=) c.411C>T (p.Asp137=) c.498C>T (p.Asp166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841321G>C | CA346064110 | ADCY3 | c.1134C>G (p.Asp378Glu) c.402C>G (p.Asp134Glu) c.984C>G (p.Asp328Glu) n.517C>G c.147C>G (p.Asp49Glu) c.468C>G (p.Asp156Glu) c.411C>G (p.Asp137Glu) c.498C>G (p.Asp166Glu) | |
2 | g.24841321G= | CA1239081937 | ADCY3 | c.1134C= (p.Asp378=) c.402C= (p.Asp134=) c.984C= (p.Asp328=) n.517C= c.147C= (p.Asp49=) c.468C= (p.Asp156=) c.411C= (p.Asp137=) c.498C= (p.Asp166=) | |
2 | g.24841321G>T | CA346064112 | ADCY3 | c.1134C>A (p.Asp378Glu) c.402C>A (p.Asp134Glu) c.984C>A (p.Asp328Glu) n.517C>A c.147C>A (p.Asp49Glu) c.468C>A (p.Asp156Glu) c.411C>A (p.Asp137Glu) c.498C>A (p.Asp166Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.24841322T>A | CA346064114 | ADCY3 | c.1133A>T (p.Asp378Val) c.401A>T (p.Asp134Val) c.983A>T (p.Asp328Val) n.516A>T c.146A>T (p.Asp49Val) c.467A>T (p.Asp156Val) c.410A>T (p.Asp137Val) c.497A>T (p.Asp166Val) | |
2 | g.24841322T>C | CA346064115 | ADCY3 | c.1133A>G (p.Asp378Gly) c.401A>G (p.Asp134Gly) c.983A>G (p.Asp328Gly) n.516A>G c.146A>G (p.Asp49Gly) c.467A>G (p.Asp156Gly) c.410A>G (p.Asp137Gly) c.497A>G (p.Asp166Gly) | gnomAD v4 |
2 | g.24841322T>G | CA346064116 | ADCY3 | c.1133A>C (p.Asp378Ala) c.401A>C (p.Asp134Ala) c.983A>C (p.Asp328Ala) n.516A>C c.146A>C (p.Asp49Ala) c.467A>C (p.Asp156Ala) c.410A>C (p.Asp137Ala) c.497A>C (p.Asp166Ala) | |
2 | g.24841323C>A | CA346064118 | ADCY3 | c.1132G>T (p.Asp378Tyr) c.400G>T (p.Asp134Tyr) c.982G>T (p.Asp328Tyr) n.515G>T c.145G>T (p.Asp49Tyr) c.466G>T (p.Asp156Tyr) c.409G>T (p.Asp137Tyr) c.496G>T (p.Asp166Tyr) | gnomAD v4 |
2 | g.24841323C= | CA1239081938 | ADCY3 | c.1132G= (p.Asp378=) c.400G= (p.Asp134=) c.982G= (p.Asp328=) n.515G= c.145G= (p.Asp49=) c.466G= (p.Asp156=) c.409G= (p.Asp137=) c.496G= (p.Asp166=) | |
2 | g.24841323C>G | CA346064119 | ADCY3 | c.1132G>C (p.Asp378His) c.400G>C (p.Asp134His) c.982G>C (p.Asp328His) n.515G>C c.145G>C (p.Asp49His) c.466G>C (p.Asp156His) c.409G>C (p.Asp137His) c.496G>C (p.Asp166His) | |
2 | g.24841323C>T | CA346064120 | ADCY3 | c.1132G>A (p.Asp378Asn) c.400G>A (p.Asp134Asn) c.982G>A (p.Asp328Asn) n.515G>A c.145G>A (p.Asp49Asn) c.466G>A (p.Asp156Asn) c.409G>A (p.Asp137Asn) c.496G>A (p.Asp166Asn) | dbSNP gnomAD v4 |
2 | g.24841324G>A | CA1554287 | ADCY3 | c.1131C>T (p.Pro377=) c.399C>T (p.Pro133=) c.981C>T (p.Pro327=) n.514C>T c.144C>T (p.Pro48=) c.465C>T (p.Pro155=) c.408C>T (p.Pro136=) c.495C>T (p.Pro165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.24841324G>C | CA425176952 | ADCY3 | c.1131C>G (p.Pro377=) c.399C>G (p.Pro133=) c.981C>G (p.Pro327=) n.514C>G c.144C>G (p.Pro48=) c.465C>G (p.Pro155=) c.408C>G (p.Pro136=) c.495C>G (p.Pro165=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.24841324G= | CA1239081939 | ADCY3 | c.1131C= (p.Pro377=) c.399C= (p.Pro133=) c.981C= (p.Pro327=) n.514C= c.144C= (p.Pro48=) c.465C= (p.Pro155=) c.408C= (p.Pro136=) c.495C= (p.Pro165=) | |
2 | g.24841324G>T | CA425176953 | ADCY3 | c.1131C>A (p.Pro377=) c.399C>A (p.Pro133=) c.981C>A (p.Pro327=) n.514C>A c.144C>A (p.Pro48=) c.465C>A (p.Pro155=) c.408C>A (p.Pro136=) c.495C>A (p.Pro165=) | dbSNP gnomAD v4 |
2 | g.24841325G>A | CA346064123 | ADCY3 | c.1130C>T (p.Pro377Leu) c.398C>T (p.Pro133Leu) c.464C>T c.980C>T (p.Pro327Leu) n.513C>T c.143C>T (p.Pro48Leu) c.464C>T (p.Pro155Leu) c.407C>T (p.Pro136Leu) c.494C>T (p.Pro165Leu) | |
2 | g.24841325G>C | CA346064124 | ADCY3 | c.1130C>G (p.Pro377Arg) c.398C>G (p.Pro133Arg) c.464C>G c.980C>G (p.Pro327Arg) n.513C>G c.143C>G (p.Pro48Arg) c.464C>G (p.Pro155Arg) c.407C>G (p.Pro136Arg) c.494C>G (p.Pro165Arg) | |
2 | g.24841325G>T | CA346064125 | ADCY3 | c.1130C>A (p.Pro377His) c.398C>A (p.Pro133His) c.464C>A c.980C>A (p.Pro327His) n.513C>A c.143C>A (p.Pro48His) c.464C>A (p.Pro155His) c.407C>A (p.Pro136His) c.494C>A (p.Pro165His) | |
2 | g.24841326G>A | CA346064127 | ADCY3 | c.1129C>T (p.Pro377Ser) c.397C>T (p.Pro133Ser) c.463C>T c.979C>T (p.Pro327Ser) n.512C>T c.142C>T (p.Pro48Ser) c.463C>T (p.Pro155Ser) c.406C>T (p.Pro136Ser) c.493C>T (p.Pro165Ser) | gnomAD v4 |
2 | g.24841326G>C | CA346064129 | ADCY3 | c.1129C>G (p.Pro377Ala) c.397C>G (p.Pro133Ala) c.463C>G c.979C>G (p.Pro327Ala) n.512C>G c.142C>G (p.Pro48Ala) c.463C>G (p.Pro155Ala) c.406C>G (p.Pro136Ala) c.493C>G (p.Pro165Ala) | |
2 | g.24841326G>T | CA346064135 | ADCY3 | c.1129C>A (p.Pro377Thr) c.397C>A (p.Pro133Thr) c.463C>A c.979C>A (p.Pro327Thr) n.512C>A c.142C>A (p.Pro48Thr) c.463C>A (p.Pro155Thr) c.406C>A (p.Pro136Thr) c.493C>A (p.Pro165Thr) | gnomAD v4 |