Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.123284656T>ACA354221923ADCY5c.2415A>T (p.Lys805Asn)
c.2703A>T (p.Lys901Asn)
n.2141A>T
c.3813A>T (p.Lys1271Asn)
c.3738A>T (p.Lys1246Asn)
c.2688A>T (p.Lys896Asn)
n.508A>T
c.2712A>T (p.Lys904Asn)
c.2763A>T (p.Lys921Asn)
c.2490A>T (p.Lys830Asn)
c.2814A>T (p.Lys938Asn)
c.2724A>T (p.Lys908Asn)
c.2715A>T (p.Lys905Asn)
3g.123284656T>CCA435297672ADCY5c.2415A>G (p.Lys805=)
c.2703A>G (p.Lys901=)
n.2141A>G
c.3813A>G (p.Lys1271=)
c.3738A>G (p.Lys1246=)
c.2688A>G (p.Lys896=)
n.508A>G
c.2712A>G (p.Lys904=)
c.2763A>G (p.Lys921=)
c.2490A>G (p.Lys830=)
c.2814A>G (p.Lys938=)
c.2724A>G (p.Lys908=)
c.2715A>G (p.Lys905=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284656T>GCA354221925ADCY5c.2415A>C (p.Lys805Asn)
c.2703A>C (p.Lys901Asn)
n.2141A>C
c.3813A>C (p.Lys1271Asn)
c.3738A>C (p.Lys1246Asn)
c.2688A>C (p.Lys896Asn)
n.508A>C
c.2712A>C (p.Lys904Asn)
c.2763A>C (p.Lys921Asn)
c.2490A>C (p.Lys830Asn)
c.2814A>C (p.Lys938Asn)
c.2724A>C (p.Lys908Asn)
c.2715A>C (p.Lys905Asn)
3g.123284656T=CA1398327461ADCY5c.2415A= (p.Lys805=)
c.2703A= (p.Lys901=)
n.2141A=
c.3813A= (p.Lys1271=)
c.3738A= (p.Lys1246=)
c.2688A= (p.Lys896=)
n.508A=
c.2712A= (p.Lys904=)
c.2763A= (p.Lys921=)
c.2490A= (p.Lys830=)
c.2814A= (p.Lys938=)
c.2724A= (p.Lys908=)
c.2715A= (p.Lys905=)
3g.123284657T>ACA354221927ADCY5c.2414A>T (p.Lys805Ile)
c.2702A>T (p.Lys901Ile)
n.2140A>T
c.3812A>T (p.Lys1271Ile)
c.3737A>T (p.Lys1246Ile)
c.2687A>T (p.Lys896Ile)
n.507A>T
c.2711A>T (p.Lys904Ile)
c.2762A>T (p.Lys921Ile)
c.2489A>T (p.Lys830Ile)
c.2813A>T (p.Lys938Ile)
c.2723A>T (p.Lys908Ile)
c.2714A>T (p.Lys905Ile)
3g.123284657T>CCA354221929ADCY5c.2414A>G (p.Lys805Arg)
c.2702A>G (p.Lys901Arg)
n.2140A>G
c.3812A>G (p.Lys1271Arg)
c.3737A>G (p.Lys1246Arg)
c.2687A>G (p.Lys896Arg)
n.507A>G
c.2711A>G (p.Lys904Arg)
c.2762A>G (p.Lys921Arg)
c.2489A>G (p.Lys830Arg)
c.2813A>G (p.Lys938Arg)
c.2723A>G (p.Lys908Arg)
c.2714A>G (p.Lys905Arg)
3g.123284657T>GCA354221931ADCY5c.2414A>C (p.Lys805Thr)
c.2702A>C (p.Lys901Thr)
n.2140A>C
c.3812A>C (p.Lys1271Thr)
c.3737A>C (p.Lys1246Thr)
c.2687A>C (p.Lys896Thr)
n.507A>C
c.2711A>C (p.Lys904Thr)
c.2762A>C (p.Lys921Thr)
c.2489A>C (p.Lys830Thr)
c.2813A>C (p.Lys938Thr)
c.2723A>C (p.Lys908Thr)
c.2714A>C (p.Lys905Thr)
3g.123284658T>ACA354221933ADCY5c.2413A>T (p.Lys805Ter)
c.2701A>T (p.Lys901Ter)
n.2139A>T
c.3811A>T (p.Lys1271Ter)
c.3736A>T (p.Lys1246Ter)
c.2686A>T (p.Lys896Ter)
n.506A>T
c.2710A>T (p.Lys904Ter)
c.2761A>T (p.Lys921Ter)
c.2488A>T (p.Lys830Ter)
c.2812A>T (p.Lys938Ter)
c.2722A>T (p.Lys908Ter)
c.2713A>T (p.Lys905Ter)
dbSNP
3g.123284658T>CCA354221935ADCY5c.2413A>G (p.Lys805Glu)
c.2701A>G (p.Lys901Glu)
n.2139A>G
c.3811A>G (p.Lys1271Glu)
c.3736A>G (p.Lys1246Glu)
c.2686A>G (p.Lys896Glu)
n.506A>G
c.2710A>G (p.Lys904Glu)
c.2761A>G (p.Lys921Glu)
c.2488A>G (p.Lys830Glu)
c.2812A>G (p.Lys938Glu)
c.2722A>G (p.Lys908Glu)
c.2713A>G (p.Lys905Glu)
ClinVar dbSNP
3g.123284658T>GCA354221937ADCY5c.2413A>C (p.Lys805Gln)
c.2701A>C (p.Lys901Gln)
n.2139A>C
c.3811A>C (p.Lys1271Gln)
c.3736A>C (p.Lys1246Gln)
c.2686A>C (p.Lys896Gln)
n.506A>C
c.2710A>C (p.Lys904Gln)
c.2761A>C (p.Lys921Gln)
c.2488A>C (p.Lys830Gln)
c.2812A>C (p.Lys938Gln)
c.2722A>C (p.Lys908Gln)
c.2713A>C (p.Lys905Gln)
3g.123284658T=CA1398327462ADCY5c.2413A= (p.Lys805=)
c.2701A= (p.Lys901=)
n.2139A=
c.3811A= (p.Lys1271=)
c.3736A= (p.Lys1246=)
c.2686A= (p.Lys896=)
n.506A=
c.2710A= (p.Lys904=)
c.2761A= (p.Lys921=)
c.2488A= (p.Lys830=)
c.2812A= (p.Lys938=)
c.2722A= (p.Lys908=)
c.2713A= (p.Lys905=)
3g.123284659G>ACA82899766ADCY5c.2412C>T (p.Gly804=)
c.2700C>T (p.Gly900=)
n.2138C>T
c.3810C>T (p.Gly1270=)
c.3735C>T (p.Gly1245=)
c.2685C>T (p.Gly895=)
n.505C>T
c.2709C>T (p.Gly903=)
c.2760C>T (p.Gly920=)
c.2487C>T (p.Gly829=)
c.2811C>T (p.Gly937=)
c.2721C>T (p.Gly907=)
c.2712C>T (p.Gly904=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284659G>CCA435297673ADCY5c.2412C>G (p.Gly804=)
c.2700C>G (p.Gly900=)
n.2138C>G
c.3810C>G (p.Gly1270=)
c.3735C>G (p.Gly1245=)
c.2685C>G (p.Gly895=)
n.505C>G
c.2709C>G (p.Gly903=)
c.2760C>G (p.Gly920=)
c.2487C>G (p.Gly829=)
c.2811C>G (p.Gly937=)
c.2721C>G (p.Gly907=)
c.2712C>G (p.Gly904=)
3g.123284659G=CA1398327463ADCY5c.2412C= (p.Gly804=)
c.2700C= (p.Gly900=)
n.2138C=
c.3810C= (p.Gly1270=)
c.3735C= (p.Gly1245=)
c.2685C= (p.Gly895=)
n.505C=
c.2709C= (p.Gly903=)
c.2760C= (p.Gly920=)
c.2487C= (p.Gly829=)
c.2811C= (p.Gly937=)
c.2721C= (p.Gly907=)
c.2712C= (p.Gly904=)
3g.123284659G>TCA435297674ADCY5c.2412C>A (p.Gly804=)
c.2700C>A (p.Gly900=)
n.2138C>A
c.3810C>A (p.Gly1270=)
c.3735C>A (p.Gly1245=)
c.2685C>A (p.Gly895=)
n.505C>A
c.2709C>A (p.Gly903=)
c.2760C>A (p.Gly920=)
c.2487C>A (p.Gly829=)
c.2811C>A (p.Gly937=)
c.2721C>A (p.Gly907=)
c.2712C>A (p.Gly904=)
gnomAD v4
3g.123284660C>ACA354221946ADCY5c.2411G>T (p.Gly804Val)
c.2699G>T (p.Gly900Val)
n.2137G>T
c.3809G>T (p.Gly1270Val)
c.3734G>T (p.Gly1245Val)
c.2684G>T (p.Gly895Val)
n.504G>T
c.2708G>T (p.Gly903Val)
c.2759G>T (p.Gly920Val)
c.2486G>T (p.Gly829Val)
c.2810G>T (p.Gly937Val)
c.2720G>T (p.Gly907Val)
c.2711G>T (p.Gly904Val)
3g.123284660C>GCA354221944ADCY5c.2411G>C (p.Gly804Ala)
c.2699G>C (p.Gly900Ala)
n.2137G>C
c.3809G>C (p.Gly1270Ala)
c.3734G>C (p.Gly1245Ala)
c.2684G>C (p.Gly895Ala)
n.504G>C
c.2708G>C (p.Gly903Ala)
c.2759G>C (p.Gly920Ala)
c.2486G>C (p.Gly829Ala)
c.2810G>C (p.Gly937Ala)
c.2720G>C (p.Gly907Ala)
c.2711G>C (p.Gly904Ala)
3g.123284660C>TCA354221941ADCY5c.2411G>A (p.Gly804Asp)
c.2699G>A (p.Gly900Asp)
n.2137G>A
c.3809G>A (p.Gly1270Asp)
c.3734G>A (p.Gly1245Asp)
c.2684G>A (p.Gly895Asp)
n.504G>A
c.2708G>A (p.Gly903Asp)
c.2759G>A (p.Gly920Asp)
c.2486G>A (p.Gly829Asp)
c.2810G>A (p.Gly937Asp)
c.2720G>A (p.Gly907Asp)
c.2711G>A (p.Gly904Asp)
3g.123284660_123284666delinsCCCTTGACA1398327464ADCY5c.2405_2411delinsTCAAGGG (p.Val802=)
c.2693_2699delinsTCAAGGG (p.Val898=)
n.2131_2137delinsTCAAGGG
c.3803_3809delinsTCAAGGG (p.Val1268=)
c.3728_3734delinsTCAAGGG (p.Val1243=)
c.2678_2684delinsTCAAGGG (p.Val893=)
n.498_504delinsTCAAGGG
c.2702_2708delinsTCAAGGG (p.Val901=)
c.2753_2759delinsTCAAGGG (p.Val918=)
c.2480_2486delinsTCAAGGG (p.Val827=)
c.2804_2810delinsTCAAGGG (p.Val935=)
c.2714_2720delinsTCAAGGG (p.Val905=)
c.2705_2711delinsTCAAGGG (p.Val902=)
3g.123284661C>ACA354221948ADCY5c.2410G>T (p.Gly804Cys)
c.2698G>T (p.Gly900Cys)
n.2136G>T
c.3808G>T (p.Gly1270Cys)
c.3733G>T (p.Gly1245Cys)
c.2683G>T (p.Gly895Cys)
n.503G>T
c.2707G>T (p.Gly903Cys)
c.2758G>T (p.Gly920Cys)
c.2485G>T (p.Gly829Cys)
c.2809G>T (p.Gly937Cys)
c.2719G>T (p.Gly907Cys)
c.2710G>T (p.Gly904Cys)
3g.123284661C>GCA354221950ADCY5c.2410G>C (p.Gly804Arg)
c.2698G>C (p.Gly900Arg)
n.2136G>C
c.3808G>C (p.Gly1270Arg)
c.3733G>C (p.Gly1245Arg)
c.2683G>C (p.Gly895Arg)
n.503G>C
c.2707G>C (p.Gly903Arg)
c.2758G>C (p.Gly920Arg)
c.2485G>C (p.Gly829Arg)
c.2809G>C (p.Gly937Arg)
c.2719G>C (p.Gly907Arg)
c.2710G>C (p.Gly904Arg)
3g.123284661C>TCA354221952ADCY5c.2410G>A (p.Gly804Ser)
c.2698G>A (p.Gly900Ser)
n.2136G>A
c.3808G>A (p.Gly1270Ser)
c.3733G>A (p.Gly1245Ser)
c.2683G>A (p.Gly895Ser)
n.503G>A
c.2707G>A (p.Gly903Ser)
c.2758G>A (p.Gly920Ser)
c.2485G>A (p.Gly829Ser)
c.2809G>A (p.Gly937Ser)
c.2719G>A (p.Gly907Ser)
c.2710G>A (p.Gly904Ser)
3g.123284669_123284674delCA545690191ADCY5c.2405_2410del (p.Val802_Lys803del)
c.2693_2698del (p.Val898_Lys899del)
n.2131_2136del
c.3803_3808del (p.Val1268_Lys1269del)
c.3728_3733del (p.Val1243_Lys1244del)
c.2678_2683del (p.Val893_Lys894del)
n.498_503del
c.2702_2707del (p.Val901_Lys902del)
c.2753_2758del (p.Val918_Lys919del)
c.2480_2485del (p.Val827_Lys828del)
c.2804_2809del (p.Val935_Lys936del)
c.2714_2719del (p.Val905_Lys906del)
c.2705_2710del (p.Val902_Lys903del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284662C>ACA354221954ADCY5c.2409G>T (p.Lys803Asn)
c.2697G>T (p.Lys899Asn)
n.2135G>T
c.3807G>T (p.Lys1269Asn)
c.3732G>T (p.Lys1244Asn)
c.2682G>T (p.Lys894Asn)
n.502G>T
c.2706G>T (p.Lys902Asn)
c.2757G>T (p.Lys919Asn)
c.2484G>T (p.Lys828Asn)
c.2808G>T (p.Lys936Asn)
c.2718G>T (p.Lys906Asn)
c.2709G>T (p.Lys903Asn)
3g.123284662C=CA1398327465ADCY5c.2409G= (p.Lys803=)
c.2697G= (p.Lys899=)
n.2135G=
c.3807G= (p.Lys1269=)
c.3732G= (p.Lys1244=)
c.2682G= (p.Lys894=)
n.502G=
c.2706G= (p.Lys902=)
c.2757G= (p.Lys919=)
c.2484G= (p.Lys828=)
c.2808G= (p.Lys936=)
c.2718G= (p.Lys906=)
c.2709G= (p.Lys903=)
3g.123284662C>GCA354221956ADCY5c.2409G>C (p.Lys803Asn)
c.2697G>C (p.Lys899Asn)
n.2135G>C
c.3807G>C (p.Lys1269Asn)
c.3732G>C (p.Lys1244Asn)
c.2682G>C (p.Lys894Asn)
n.502G>C
c.2706G>C (p.Lys902Asn)
c.2757G>C (p.Lys919Asn)
c.2484G>C (p.Lys828Asn)
c.2808G>C (p.Lys936Asn)
c.2718G>C (p.Lys906Asn)
c.2709G>C (p.Lys903Asn)
3g.123284662C>TCA435297675ADCY5c.2409G>A (p.Lys803=)
c.2697G>A (p.Lys899=)
n.2135G>A
c.3807G>A (p.Lys1269=)
c.3732G>A (p.Lys1244=)
c.2682G>A (p.Lys894=)
n.502G>A
c.2706G>A (p.Lys902=)
c.2757G>A (p.Lys919=)
c.2484G>A (p.Lys828=)
c.2808G>A (p.Lys936=)
c.2718G>A (p.Lys906=)
c.2709G>A (p.Lys903=)
dbSNP gnomAD v2 gnomAD v4
3g.123284663T>ACA354221958ADCY5c.2408A>T (p.Lys803Met)
c.2696A>T (p.Lys899Met)
n.2134A>T
c.3806A>T (p.Lys1269Met)
c.3731A>T (p.Lys1244Met)
c.2681A>T (p.Lys894Met)
n.501A>T
c.2705A>T (p.Lys902Met)
c.2756A>T (p.Lys919Met)
c.2483A>T (p.Lys828Met)
c.2807A>T (p.Lys936Met)
c.2717A>T (p.Lys906Met)
c.2708A>T (p.Lys903Met)
3g.123284663T>CCA354221960ADCY5c.2408A>G (p.Lys803Arg)
c.2696A>G (p.Lys899Arg)
n.2134A>G
c.3806A>G (p.Lys1269Arg)
c.3731A>G (p.Lys1244Arg)
c.2681A>G (p.Lys894Arg)
n.501A>G
c.2705A>G (p.Lys902Arg)
c.2756A>G (p.Lys919Arg)
c.2483A>G (p.Lys828Arg)
c.2807A>G (p.Lys936Arg)
c.2717A>G (p.Lys906Arg)
c.2708A>G (p.Lys903Arg)
3g.123284663T>GCA354221962ADCY5c.2408A>C (p.Lys803Thr)
c.2696A>C (p.Lys899Thr)
n.2134A>C
c.3806A>C (p.Lys1269Thr)
c.3731A>C (p.Lys1244Thr)
c.2681A>C (p.Lys894Thr)
n.501A>C
c.2705A>C (p.Lys902Thr)
c.2756A>C (p.Lys919Thr)
c.2483A>C (p.Lys828Thr)
c.2807A>C (p.Lys936Thr)
c.2717A>C (p.Lys906Thr)
c.2708A>C (p.Lys903Thr)
3g.123284664T>ACA354221964ADCY5c.2407A>T (p.Lys803Ter)
c.2695A>T (p.Lys899Ter)
n.2133A>T
c.3805A>T (p.Lys1269Ter)
c.3730A>T (p.Lys1244Ter)
c.2680A>T (p.Lys894Ter)
n.500A>T
c.2704A>T (p.Lys902Ter)
c.2755A>T (p.Lys919Ter)
c.2482A>T (p.Lys828Ter)
c.2806A>T (p.Lys936Ter)
c.2716A>T (p.Lys906Ter)
c.2707A>T (p.Lys903Ter)
dbSNP
3g.123284664T>CCA354221966ADCY5c.2407A>G (p.Lys803Glu)
c.2695A>G (p.Lys899Glu)
n.2133A>G
c.3805A>G (p.Lys1269Glu)
c.3730A>G (p.Lys1244Glu)
c.2680A>G (p.Lys894Glu)
n.500A>G
c.2704A>G (p.Lys902Glu)
c.2755A>G (p.Lys919Glu)
c.2482A>G (p.Lys828Glu)
c.2806A>G (p.Lys936Glu)
c.2716A>G (p.Lys906Glu)
c.2707A>G (p.Lys903Glu)
3g.123284664T>GCA354221968ADCY5c.2407A>C (p.Lys803Gln)
c.2695A>C (p.Lys899Gln)
n.2133A>C
c.3805A>C (p.Lys1269Gln)
c.3730A>C (p.Lys1244Gln)
c.2680A>C (p.Lys894Gln)
n.500A>C
c.2704A>C (p.Lys902Gln)
c.2755A>C (p.Lys919Gln)
c.2482A>C (p.Lys828Gln)
c.2806A>C (p.Lys936Gln)
c.2716A>C (p.Lys906Gln)
c.2707A>C (p.Lys903Gln)
3g.123284664T=CA1398327466ADCY5c.2407A= (p.Lys803=)
c.2695A= (p.Lys899=)
n.2133A=
c.3805A= (p.Lys1269=)
c.3730A= (p.Lys1244=)
c.2680A= (p.Lys894=)
n.500A=
c.2704A= (p.Lys902=)
c.2755A= (p.Lys919=)
c.2482A= (p.Lys828=)
c.2806A= (p.Lys936=)
c.2716A= (p.Lys906=)
c.2707A= (p.Lys903=)
3g.123284665G>ACA435297676ADCY5c.2406C>T (p.Val802=)
c.2694C>T (p.Val898=)
n.2132C>T
c.3804C>T (p.Val1268=)
c.3729C>T (p.Val1243=)
c.2679C>T (p.Val893=)
n.499C>T
c.2703C>T (p.Val901=)
c.2754C>T (p.Val918=)
c.2481C>T (p.Val827=)
c.2805C>T (p.Val935=)
c.2715C>T (p.Val905=)
c.2706C>T (p.Val902=)
dbSNP
3g.123284665G>CCA435297677ADCY5c.2406C>G (p.Val802=)
c.2694C>G (p.Val898=)
n.2132C>G
c.3804C>G (p.Val1268=)
c.3729C>G (p.Val1243=)
c.2679C>G (p.Val893=)
n.499C>G
c.2703C>G (p.Val901=)
c.2754C>G (p.Val918=)
c.2481C>G (p.Val827=)
c.2805C>G (p.Val935=)
c.2715C>G (p.Val905=)
c.2706C>G (p.Val902=)
3g.123284665G=CA1398327467ADCY5c.2406C= (p.Val802=)
c.2694C= (p.Val898=)
n.2132C=
c.3804C= (p.Val1268=)
c.3729C= (p.Val1243=)
c.2679C= (p.Val893=)
n.499C=
c.2703C= (p.Val901=)
c.2754C= (p.Val918=)
c.2481C= (p.Val827=)
c.2805C= (p.Val935=)
c.2715C= (p.Val905=)
c.2706C= (p.Val902=)
3g.123284665G>TCA435297678ADCY5c.2406C>A (p.Val802=)
c.2694C>A (p.Val898=)
n.2132C>A
c.3804C>A (p.Val1268=)
c.3729C>A (p.Val1243=)
c.2679C>A (p.Val893=)
n.499C>A
c.2703C>A (p.Val901=)
c.2754C>A (p.Val918=)
c.2481C>A (p.Val827=)
c.2805C>A (p.Val935=)
c.2715C>A (p.Val905=)
c.2706C>A (p.Val902=)
gnomAD v4
3g.123284666A>CCA354221970ADCY5c.2405T>G (p.Val802Gly)
c.2693T>G (p.Val898Gly)
n.2131T>G
c.3803T>G (p.Val1268Gly)
c.3728T>G (p.Val1243Gly)
c.2678T>G (p.Val893Gly)
n.498T>G
c.2702T>G (p.Val901Gly)
c.2753T>G (p.Val918Gly)
c.2480T>G (p.Val827Gly)
c.2804T>G (p.Val935Gly)
c.2714T>G (p.Val905Gly)
c.2705T>G (p.Val902Gly)
3g.123284666A>GCA354221972ADCY5c.2405T>C (p.Val802Ala)
c.2693T>C (p.Val898Ala)
n.2131T>C
c.3803T>C (p.Val1268Ala)
c.3728T>C (p.Val1243Ala)
c.2678T>C (p.Val893Ala)
n.498T>C
c.2702T>C (p.Val901Ala)
c.2753T>C (p.Val918Ala)
c.2480T>C (p.Val827Ala)
c.2804T>C (p.Val935Ala)
c.2714T>C (p.Val905Ala)
c.2705T>C (p.Val902Ala)
3g.123284666A>TCA354221974ADCY5c.2405T>A (p.Val802Asp)
c.2693T>A (p.Val898Asp)
n.2131T>A
c.3803T>A (p.Val1268Asp)
c.3728T>A (p.Val1243Asp)
c.2678T>A (p.Val893Asp)
n.498T>A
c.2702T>A (p.Val901Asp)
c.2753T>A (p.Val918Asp)
c.2480T>A (p.Val827Asp)
c.2804T>A (p.Val935Asp)
c.2714T>A (p.Val905Asp)
c.2705T>A (p.Val902Asp)
3g.123284667C>ACA354221978ADCY5c.2404G>T (p.Val802Phe)
c.2692G>T (p.Val898Phe)
n.2130G>T
c.3802G>T (p.Val1268Phe)
c.3727G>T (p.Val1243Phe)
c.2677G>T (p.Val893Phe)
n.497G>T
c.2701G>T (p.Val901Phe)
c.2752G>T (p.Val918Phe)
c.2479G>T (p.Val827Phe)
c.2803G>T (p.Val935Phe)
c.2713G>T (p.Val905Phe)
c.2704G>T (p.Val902Phe)
3g.123284667C>GCA354221981ADCY5c.2404G>C (p.Val802Leu)
c.2692G>C (p.Val898Leu)
n.2130G>C
c.3802G>C (p.Val1268Leu)
c.3727G>C (p.Val1243Leu)
c.2677G>C (p.Val893Leu)
n.497G>C
c.2701G>C (p.Val901Leu)
c.2752G>C (p.Val918Leu)
c.2479G>C (p.Val827Leu)
c.2803G>C (p.Val935Leu)
c.2713G>C (p.Val905Leu)
c.2704G>C (p.Val902Leu)
3g.123284667C>TCA354221976ADCY5c.2404G>A (p.Val802Ile)
c.2692G>A (p.Val898Ile)
n.2130G>A
c.3802G>A (p.Val1268Ile)
c.3727G>A (p.Val1243Ile)
c.2677G>A (p.Val893Ile)
n.497G>A
c.2701G>A (p.Val901Ile)
c.2752G>A (p.Val918Ile)
c.2479G>A (p.Val827Ile)
c.2803G>A (p.Val935Ile)
c.2713G>A (p.Val905Ile)
c.2704G>A (p.Val902Ile)
3g.123284668C>ACA354221983ADCY5c.2403G>T (p.Lys801Asn)
c.2691G>T (p.Lys897Asn)
n.2129G>T
c.3801G>T (p.Lys1267Asn)
c.3726G>T (p.Lys1242Asn)
c.2676G>T (p.Lys892Asn)
n.496G>T
c.2700G>T (p.Lys900Asn)
c.2751G>T (p.Lys917Asn)
c.2478G>T (p.Lys826Asn)
c.2802G>T (p.Lys934Asn)
c.2712G>T (p.Lys904Asn)
c.2703G>T (p.Lys901Asn)
3g.123284668C>GCA354221985ADCY5c.2403G>C (p.Lys801Asn)
c.2691G>C (p.Lys897Asn)
n.2129G>C
c.3801G>C (p.Lys1267Asn)
c.3726G>C (p.Lys1242Asn)
c.2676G>C (p.Lys892Asn)
n.496G>C
c.2700G>C (p.Lys900Asn)
c.2751G>C (p.Lys917Asn)
c.2478G>C (p.Lys826Asn)
c.2802G>C (p.Lys934Asn)
c.2712G>C (p.Lys904Asn)
c.2703G>C (p.Lys901Asn)
3g.123284668C>TCA435297679ADCY5c.2403G>A (p.Lys801=)
c.2691G>A (p.Lys897=)
n.2129G>A
c.3801G>A (p.Lys1267=)
c.3726G>A (p.Lys1242=)
c.2676G>A (p.Lys892=)
n.496G>A
c.2700G>A (p.Lys900=)
c.2751G>A (p.Lys917=)
c.2478G>A (p.Lys826=)
c.2802G>A (p.Lys934=)
c.2712G>A (p.Lys904=)
c.2703G>A (p.Lys901=)
gnomAD v4
3g.123284669T>ACA2576692ADCY5c.2402A>T (p.Lys801Met)
c.2690A>T (p.Lys897Met)
n.2128A>T
c.3800A>T (p.Lys1267Met)
c.3725A>T (p.Lys1242Met)
c.2675A>T (p.Lys892Met)
n.495A>T
c.2699A>T (p.Lys900Met)
c.2750A>T (p.Lys917Met)
c.2477A>T (p.Lys826Met)
c.2801A>T (p.Lys934Met)
c.2711A>T (p.Lys904Met)
c.2702A>T (p.Lys901Met)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284669T>CCA354221988ADCY5c.2402A>G (p.Lys801Arg)
c.2690A>G (p.Lys897Arg)
n.2128A>G
c.3800A>G (p.Lys1267Arg)
c.3725A>G (p.Lys1242Arg)
c.2675A>G (p.Lys892Arg)
n.495A>G
c.2699A>G (p.Lys900Arg)
c.2750A>G (p.Lys917Arg)
c.2477A>G (p.Lys826Arg)
c.2801A>G (p.Lys934Arg)
c.2711A>G (p.Lys904Arg)
c.2702A>G (p.Lys901Arg)
dbSNP gnomAD v4
3g.123284669T>GCA354221990ADCY5c.2402A>C (p.Lys801Thr)
c.2690A>C (p.Lys897Thr)
n.2128A>C
c.3800A>C (p.Lys1267Thr)
c.3725A>C (p.Lys1242Thr)
c.2675A>C (p.Lys892Thr)
n.495A>C
c.2699A>C (p.Lys900Thr)
c.2750A>C (p.Lys917Thr)
c.2477A>C (p.Lys826Thr)
c.2801A>C (p.Lys934Thr)
c.2711A>C (p.Lys904Thr)
c.2702A>C (p.Lys901Thr)
3g.123284669T=CA1398327468ADCY5c.2402A= (p.Lys801=)
c.2690A= (p.Lys897=)
n.2128A=
c.3800A= (p.Lys1267=)
c.3725A= (p.Lys1242=)
c.2675A= (p.Lys892=)
n.495A=
c.2699A= (p.Lys900=)
c.2750A= (p.Lys917=)
c.2477A= (p.Lys826=)
c.2801A= (p.Lys934=)
c.2711A= (p.Lys904=)
c.2702A= (p.Lys901=)
3g.123284670T>ACA354221995ADCY5c.2401A>T (p.Lys801Ter)
c.2689A>T (p.Lys897Ter)
n.2127A>T
c.3799A>T (p.Lys1267Ter)
c.3724A>T (p.Lys1242Ter)
c.2674A>T (p.Lys892Ter)
n.494A>T
c.2698A>T (p.Lys900Ter)
c.2749A>T (p.Lys917Ter)
c.2476A>T (p.Lys826Ter)
c.2800A>T (p.Lys934Ter)
c.2710A>T (p.Lys904Ter)
c.2701A>T (p.Lys901Ter)
3g.123284670T>CCA2576693ADCY5c.2401A>G (p.Lys801Glu)
c.2689A>G (p.Lys897Glu)
n.2127A>G
c.3799A>G (p.Lys1267Glu)
c.3724A>G (p.Lys1242Glu)
c.2674A>G (p.Lys892Glu)
n.494A>G
c.2698A>G (p.Lys900Glu)
c.2749A>G (p.Lys917Glu)
c.2476A>G (p.Lys826Glu)
c.2800A>G (p.Lys934Glu)
c.2710A>G (p.Lys904Glu)
c.2701A>G (p.Lys901Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284670T>GCA354221992ADCY5c.2401A>C (p.Lys801Gln)
c.2689A>C (p.Lys897Gln)
n.2127A>C
c.3799A>C (p.Lys1267Gln)
c.3724A>C (p.Lys1242Gln)
c.2674A>C (p.Lys892Gln)
n.494A>C
c.2698A>C (p.Lys900Gln)
c.2749A>C (p.Lys917Gln)
c.2476A>C (p.Lys826Gln)
c.2800A>C (p.Lys934Gln)
c.2710A>C (p.Lys904Gln)
c.2701A>C (p.Lys901Gln)
3g.123284670T=CA1398327469ADCY5c.2401A= (p.Lys801=)
c.2689A= (p.Lys897=)
n.2127A=
c.3799A= (p.Lys1267=)
c.3724A= (p.Lys1242=)
c.2674A= (p.Lys892=)
n.494A=
c.2698A= (p.Lys900=)
c.2749A= (p.Lys917=)
c.2476A= (p.Lys826=)
c.2800A= (p.Lys934=)
c.2710A= (p.Lys904=)
c.2701A= (p.Lys901=)
3g.123284671G>ACA435297680ADCY5c.2400C>T (p.Val800=)
c.2688C>T (p.Val896=)
n.2126C>T
c.3798C>T (p.Val1266=)
c.3723C>T (p.Val1241=)
c.2673C>T (p.Val891=)
n.493C>T
c.2697C>T (p.Val899=)
c.2748C>T (p.Val916=)
c.2475C>T (p.Val825=)
c.2799C>T (p.Val933=)
c.2709C>T (p.Val903=)
c.2700C>T (p.Val900=)
3g.123284671G>CCA435297681ADCY5c.2400C>G (p.Val800=)
c.2688C>G (p.Val896=)
n.2126C>G
c.3798C>G (p.Val1266=)
c.3723C>G (p.Val1241=)
c.2673C>G (p.Val891=)
n.493C>G
c.2697C>G (p.Val899=)
c.2748C>G (p.Val916=)
c.2475C>G (p.Val825=)
c.2799C>G (p.Val933=)
c.2709C>G (p.Val903=)
c.2700C>G (p.Val900=)
3g.123284671G>TCA435297682ADCY5c.2400C>A (p.Val800=)
c.2688C>A (p.Val896=)
n.2126C>A
c.3798C>A (p.Val1266=)
c.3723C>A (p.Val1241=)
c.2673C>A (p.Val891=)
n.493C>A
c.2697C>A (p.Val899=)
c.2748C>A (p.Val916=)
c.2475C>A (p.Val825=)
c.2799C>A (p.Val933=)
c.2709C>A (p.Val903=)
c.2700C>A (p.Val900=)
3g.123284672A>CCA354221997ADCY5c.2399T>G (p.Val800Gly)
c.2687T>G (p.Val896Gly)
n.2125T>G
c.3797T>G (p.Val1266Gly)
c.3722T>G (p.Val1241Gly)
c.2672T>G (p.Val891Gly)
n.492T>G
c.2696T>G (p.Val899Gly)
c.2747T>G (p.Val916Gly)
c.2474T>G (p.Val825Gly)
c.2798T>G (p.Val933Gly)
c.2708T>G (p.Val903Gly)
c.2699T>G (p.Val900Gly)
3g.123284672A>GCA354222000ADCY5c.2399T>C (p.Val800Ala)
c.2687T>C (p.Val896Ala)
n.2125T>C
c.3797T>C (p.Val1266Ala)
c.3722T>C (p.Val1241Ala)
c.2672T>C (p.Val891Ala)
n.492T>C
c.2696T>C (p.Val899Ala)
c.2747T>C (p.Val916Ala)
c.2474T>C (p.Val825Ala)
c.2798T>C (p.Val933Ala)
c.2708T>C (p.Val903Ala)
c.2699T>C (p.Val900Ala)
3g.123284672A>TCA354222002ADCY5c.2399T>A (p.Val800Asp)
c.2687T>A (p.Val896Asp)
n.2125T>A
c.3797T>A (p.Val1266Asp)
c.3722T>A (p.Val1241Asp)
c.2672T>A (p.Val891Asp)
n.492T>A
c.2696T>A (p.Val899Asp)
c.2747T>A (p.Val916Asp)
c.2474T>A (p.Val825Asp)
c.2798T>A (p.Val933Asp)
c.2708T>A (p.Val903Asp)
c.2699T>A (p.Val900Asp)
3g.123284673C>ACA354222004ADCY5c.2398G>T (p.Val800Phe)
c.2686G>T (p.Val896Phe)
n.2124G>T
c.3796G>T (p.Val1266Phe)
c.3721G>T (p.Val1241Phe)
c.2671G>T (p.Val891Phe)
n.491G>T
c.2695G>T (p.Val899Phe)
c.2746G>T (p.Val916Phe)
c.2473G>T (p.Val825Phe)
c.2797G>T (p.Val933Phe)
c.2707G>T (p.Val903Phe)
c.2698G>T (p.Val900Phe)
3g.123284673C>GCA354222006ADCY5c.2398G>C (p.Val800Leu)
c.2686G>C (p.Val896Leu)
n.2124G>C
c.3796G>C (p.Val1266Leu)
c.3721G>C (p.Val1241Leu)
c.2671G>C (p.Val891Leu)
n.491G>C
c.2695G>C (p.Val899Leu)
c.2746G>C (p.Val916Leu)
c.2473G>C (p.Val825Leu)
c.2797G>C (p.Val933Leu)
c.2707G>C (p.Val903Leu)
c.2698G>C (p.Val900Leu)
3g.123284673C>TCA354222008ADCY5c.2398G>A (p.Val800Ile)
c.2686G>A (p.Val896Ile)
n.2124G>A
c.3796G>A (p.Val1266Ile)
c.3721G>A (p.Val1241Ile)
c.2671G>A (p.Val891Ile)
n.491G>A
c.2695G>A (p.Val899Ile)
c.2746G>A (p.Val916Ile)
c.2473G>A (p.Val825Ile)
c.2797G>A (p.Val933Ile)
c.2707G>A (p.Val903Ile)
c.2698G>A (p.Val900Ile)
gnomAD v4
3g.123284674C>ACA435297685ADCY5c.2397G>T (p.Val799=)
c.2685G>T (p.Val895=)
n.2123G>T
c.3795G>T (p.Val1265=)
c.3720G>T (p.Val1240=)
c.2670G>T (p.Val890=)
n.490G>T
c.2694G>T (p.Val898=)
c.2745G>T (p.Val915=)
c.2472G>T (p.Val824=)
c.2796G>T (p.Val932=)
c.2706G>T (p.Val902=)
c.2697G>T (p.Val899=)
3g.123284674C>GCA435297683ADCY5c.2397G>C (p.Val799=)
c.2685G>C (p.Val895=)
n.2123G>C
c.3795G>C (p.Val1265=)
c.3720G>C (p.Val1240=)
c.2670G>C (p.Val890=)
n.490G>C
c.2694G>C (p.Val898=)
c.2745G>C (p.Val915=)
c.2472G>C (p.Val824=)
c.2796G>C (p.Val932=)
c.2706G>C (p.Val902=)
c.2697G>C (p.Val899=)
3g.123284674C>TCA435297684ADCY5c.2397G>A (p.Val799=)
c.2685G>A (p.Val895=)
n.2123G>A
c.3795G>A (p.Val1265=)
c.3720G>A (p.Val1240=)
c.2670G>A (p.Val890=)
n.490G>A
c.2694G>A (p.Val898=)
c.2745G>A (p.Val915=)
c.2472G>A (p.Val824=)
c.2796G>A (p.Val932=)
c.2706G>A (p.Val902=)
c.2697G>A (p.Val899=)
3g.123284675A>CCA354222010ADCY5c.2396T>G (p.Val799Gly)
c.2684T>G (p.Val895Gly)
n.2122T>G
c.3794T>G (p.Val1265Gly)
c.3719T>G (p.Val1240Gly)
c.2669T>G (p.Val890Gly)
n.489T>G
c.2693T>G (p.Val898Gly)
c.2744T>G (p.Val915Gly)
c.2471T>G (p.Val824Gly)
c.2795T>G (p.Val932Gly)
c.2705T>G (p.Val902Gly)
c.2696T>G (p.Val899Gly)
3g.123284675A>GCA354222014ADCY5c.2396T>C (p.Val799Ala)
c.2684T>C (p.Val895Ala)
n.2122T>C
c.3794T>C (p.Val1265Ala)
c.3719T>C (p.Val1240Ala)
c.2669T>C (p.Val890Ala)
n.489T>C
c.2693T>C (p.Val898Ala)
c.2744T>C (p.Val915Ala)
c.2471T>C (p.Val824Ala)
c.2795T>C (p.Val932Ala)
c.2705T>C (p.Val902Ala)
c.2696T>C (p.Val899Ala)
3g.123284675A>TCA354222012ADCY5c.2396T>A (p.Val799Glu)
c.2684T>A (p.Val895Glu)
n.2122T>A
c.3794T>A (p.Val1265Glu)
c.3719T>A (p.Val1240Glu)
c.2669T>A (p.Val890Glu)
n.489T>A
c.2693T>A (p.Val898Glu)
c.2744T>A (p.Val915Glu)
c.2471T>A (p.Val824Glu)
c.2795T>A (p.Val932Glu)
c.2705T>A (p.Val902Glu)
c.2696T>A (p.Val899Glu)
3g.123284676C>ACA354222016ADCY5c.2395G>T (p.Val799Leu)
c.2683G>T (p.Val895Leu)
n.2121G>T
c.3793G>T (p.Val1265Leu)
c.3718G>T (p.Val1240Leu)
c.2668G>T (p.Val890Leu)
n.488G>T
c.2692G>T (p.Val898Leu)
c.2743G>T (p.Val915Leu)
c.2470G>T (p.Val824Leu)
c.2794G>T (p.Val932Leu)
c.2704G>T (p.Val902Leu)
c.2695G>T (p.Val899Leu)
gnomAD v4
3g.123284676C=CA1398327470ADCY5c.2395G= (p.Val799=)
c.2683G= (p.Val895=)
n.2121G=
c.3793G= (p.Val1265=)
c.3718G= (p.Val1240=)
c.2668G= (p.Val890=)
n.488G=
c.2692G= (p.Val898=)
c.2743G= (p.Val915=)
c.2470G= (p.Val824=)
c.2794G= (p.Val932=)
c.2704G= (p.Val902=)
c.2695G= (p.Val899=)
3g.123284676C>GCA354222018ADCY5c.2395G>C (p.Val799Leu)
c.2683G>C (p.Val895Leu)
n.2121G>C
c.3793G>C (p.Val1265Leu)
c.3718G>C (p.Val1240Leu)
c.2668G>C (p.Val890Leu)
n.488G>C
c.2692G>C (p.Val898Leu)
c.2743G>C (p.Val915Leu)
c.2470G>C (p.Val824Leu)
c.2794G>C (p.Val932Leu)
c.2704G>C (p.Val902Leu)
c.2695G>C (p.Val899Leu)
gnomAD v4
3g.123284676C>TCA2576694ADCY5c.2395G>A (p.Val799Met)
c.2683G>A (p.Val895Met)
n.2121G>A
c.3793G>A (p.Val1265Met)
c.3718G>A (p.Val1240Met)
c.2668G>A (p.Val890Met)
n.488G>A
c.2692G>A (p.Val898Met)
c.2743G>A (p.Val915Met)
c.2470G>A (p.Val824Met)
c.2794G>A (p.Val932Met)
c.2704G>A (p.Val902Met)
c.2695G>A (p.Val899Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284676dupCA2667292098ADCY5c.2395dup (p.Val799GlyfsTer?)
c.2683dup (p.Val895GlyfsTer?)
n.2121dup
c.3793dup (p.Val1265GlyfsTer?)
c.3718dup (p.Val1240GlyfsTer?)
c.2668dup (p.Val890GlyfsTer?)
n.488dup
c.2692dup (p.Val898GlyfsTer?)
c.2743dup (p.Val915GlyfsTer?)
c.2470dup (p.Val824GlyfsTer?)
c.2794dup (p.Val932GlyfsTer?)
c.2704dup (p.Val902GlyfsTer?)
c.2695dup (p.Val899GlyfsTer?)
gnomAD v4
3g.123284677G>ACA2576695ADCY5c.2394C>T (p.Gly798=)
c.2682C>T (p.Gly894=)
n.2120C>T
c.3792C>T (p.Gly1264=)
c.3717C>T (p.Gly1239=)
c.2667C>T (p.Gly889=)
n.487C>T
c.2691C>T (p.Gly897=)
c.2742C>T (p.Gly914=)
c.2469C>T (p.Gly823=)
c.2793C>T (p.Gly931=)
c.2703C>T (p.Gly901=)
c.2694C>T (p.Gly898=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284677G>CCA435297686ADCY5c.2394C>G (p.Gly798=)
c.2682C>G (p.Gly894=)
n.2120C>G
c.3792C>G (p.Gly1264=)
c.3717C>G (p.Gly1239=)
c.2667C>G (p.Gly889=)
n.487C>G
c.2691C>G (p.Gly897=)
c.2742C>G (p.Gly914=)
c.2469C>G (p.Gly823=)
c.2793C>G (p.Gly931=)
c.2703C>G (p.Gly901=)
c.2694C>G (p.Gly898=)
3g.123284677G=CA1398327471ADCY5c.2394C= (p.Gly798=)
c.2682C= (p.Gly894=)
n.2120C=
c.3792C= (p.Gly1264=)
c.3717C= (p.Gly1239=)
c.2667C= (p.Gly889=)
n.487C=
c.2691C= (p.Gly897=)
c.2742C= (p.Gly914=)
c.2469C= (p.Gly823=)
c.2793C= (p.Gly931=)
c.2703C= (p.Gly901=)
c.2694C= (p.Gly898=)
3g.123284677G>TCA435297687ADCY5c.2394C>A (p.Gly798=)
c.2682C>A (p.Gly894=)
n.2120C>A
c.3792C>A (p.Gly1264=)
c.3717C>A (p.Gly1239=)
c.2667C>A (p.Gly889=)
n.487C>A
c.2691C>A (p.Gly897=)
c.2742C>A (p.Gly914=)
c.2469C>A (p.Gly823=)
c.2793C>A (p.Gly931=)
c.2703C>A (p.Gly901=)
c.2694C>A (p.Gly898=)
gnomAD v4
3g.123284678C>ACA354222023ADCY5c.2393G>T (p.Gly798Val)
c.2681G>T (p.Gly894Val)
n.2119G>T
c.3791G>T (p.Gly1264Val)
c.3716G>T (p.Gly1239Val)
c.2666G>T (p.Gly889Val)
n.486G>T
c.2690G>T (p.Gly897Val)
c.2741G>T (p.Gly914Val)
c.2468G>T (p.Gly823Val)
c.2792G>T (p.Gly931Val)
c.2702G>T (p.Gly901Val)
c.2693G>T (p.Gly898Val)
3g.123284678C=CA1398327472ADCY5c.2393G= (p.Gly798=)
c.2681G= (p.Gly894=)
n.2119G=
c.3791G= (p.Gly1264=)
c.3716G= (p.Gly1239=)
c.2666G= (p.Gly889=)
n.486G=
c.2690G= (p.Gly897=)
c.2741G= (p.Gly914=)
c.2468G= (p.Gly823=)
c.2792G= (p.Gly931=)
c.2702G= (p.Gly901=)
c.2693G= (p.Gly898=)
3g.123284678C>GCA354222025ADCY5c.2393G>C (p.Gly798Ala)
c.2681G>C (p.Gly894Ala)
n.2119G>C
c.3791G>C (p.Gly1264Ala)
c.3716G>C (p.Gly1239Ala)
c.2666G>C (p.Gly889Ala)
n.486G>C
c.2690G>C (p.Gly897Ala)
c.2741G>C (p.Gly914Ala)
c.2468G>C (p.Gly823Ala)
c.2792G>C (p.Gly931Ala)
c.2702G>C (p.Gly901Ala)
c.2693G>C (p.Gly898Ala)
3g.123284678C>TCA354222027ADCY5c.2393G>A (p.Gly798Asp)
c.2681G>A (p.Gly894Asp)
n.2119G>A
c.3791G>A (p.Gly1264Asp)
c.3716G>A (p.Gly1239Asp)
c.2666G>A (p.Gly889Asp)
n.486G>A
c.2690G>A (p.Gly897Asp)
c.2741G>A (p.Gly914Asp)
c.2468G>A (p.Gly823Asp)
c.2792G>A (p.Gly931Asp)
c.2702G>A (p.Gly901Asp)
c.2693G>A (p.Gly898Asp)
dbSNP
3g.123284678_123284679insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACCCA2667292117ADCY5c.2393_2394insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val799TrpfsTer22)
c.2681_2682insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val895TrpfsTer22)
n.2119_2120insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG
c.3791_3792insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val1265TrpfsTer22)
c.3716_3717insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val1240TrpfsTer22)
c.2666_2667insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val890TrpfsTer22)
n.486_487insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG
c.2690_2691insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val898TrpfsTer22)
c.2741_2742insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val915TrpfsTer22)
c.2468_2469insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val824TrpfsTer22)
c.2792_2793insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val932TrpfsTer22)
c.2702_2703insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val902TrpfsTer22)
c.2693_2694insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG (p.Val899TrpfsTer22)
gnomAD v4
3g.123284679C>ACA354222029ADCY5c.2392G>T (p.Gly798Cys)
c.2680G>T (p.Gly894Cys)
n.2118G>T
c.3790G>T (p.Gly1264Cys)
c.3715G>T (p.Gly1239Cys)
c.2665G>T (p.Gly889Cys)
n.485G>T
c.2689G>T (p.Gly897Cys)
c.2740G>T (p.Gly914Cys)
c.2467G>T (p.Gly823Cys)
c.2791G>T (p.Gly931Cys)
c.2701G>T (p.Gly901Cys)
c.2692G>T (p.Gly898Cys)
3g.123284679C=CA1398327473ADCY5c.2392G= (p.Gly798=)
c.2680G= (p.Gly894=)
n.2118G=
c.3790G= (p.Gly1264=)
c.3715G= (p.Gly1239=)
c.2665G= (p.Gly889=)
n.485G=
c.2689G= (p.Gly897=)
c.2740G= (p.Gly914=)
c.2467G= (p.Gly823=)
c.2791G= (p.Gly931=)
c.2701G= (p.Gly901=)
c.2692G= (p.Gly898=)
3g.123284679C>GCA354222031ADCY5c.2392G>C (p.Gly798Arg)
c.2680G>C (p.Gly894Arg)
n.2118G>C
c.3790G>C (p.Gly1264Arg)
c.3715G>C (p.Gly1239Arg)
c.2665G>C (p.Gly889Arg)
n.485G>C
c.2689G>C (p.Gly897Arg)
c.2740G>C (p.Gly914Arg)
c.2467G>C (p.Gly823Arg)
c.2791G>C (p.Gly931Arg)
c.2701G>C (p.Gly901Arg)
c.2692G>C (p.Gly898Arg)
3g.123284679C>TCA354222033ADCY5c.2392G>A (p.Gly798Ser)
c.2680G>A (p.Gly894Ser)
n.2118G>A
c.3790G>A (p.Gly1264Ser)
c.3715G>A (p.Gly1239Ser)
c.2665G>A (p.Gly889Ser)
n.485G>A
c.2689G>A (p.Gly897Ser)
c.2740G>A (p.Gly914Ser)
c.2467G>A (p.Gly823Ser)
c.2791G>A (p.Gly931Ser)
c.2701G>A (p.Gly901Ser)
c.2692G>A (p.Gly898Ser)
dbSNP gnomAD v2
3g.123284680C>ACA435297688ADCY5c.2391G>T (p.Arg797=)
c.2679G>T (p.Arg893=)
n.2117G>T
c.3789G>T (p.Arg1263=)
c.3714G>T (p.Arg1238=)
c.2664G>T (p.Arg888=)
n.484G>T
c.2688G>T (p.Arg896=)
c.2739G>T (p.Arg913=)
c.2466G>T (p.Arg822=)
c.2790G>T (p.Arg930=)
c.2700G>T (p.Arg900=)
c.2691G>T (p.Arg897=)
3g.123284680C>GCA435297690ADCY5c.2391G>C (p.Arg797=)
c.2679G>C (p.Arg893=)
n.2117G>C
c.3789G>C (p.Arg1263=)
c.3714G>C (p.Arg1238=)
c.2664G>C (p.Arg888=)
n.484G>C
c.2688G>C (p.Arg896=)
c.2739G>C (p.Arg913=)
c.2466G>C (p.Arg822=)
c.2790G>C (p.Arg930=)
c.2700G>C (p.Arg900=)
c.2691G>C (p.Arg897=)
3g.123284680C>TCA435297689ADCY5c.2391G>A (p.Arg797=)
c.2679G>A (p.Arg893=)
n.2117G>A
c.3789G>A (p.Arg1263=)
c.3714G>A (p.Arg1238=)
c.2664G>A (p.Arg888=)
n.484G>A
c.2688G>A (p.Arg896=)
c.2739G>A (p.Arg913=)
c.2466G>A (p.Arg822=)
c.2790G>A (p.Arg930=)
c.2700G>A (p.Arg900=)
c.2691G>A (p.Arg897=)
3g.123284681C>ACA354222035ADCY5c.2390G>T (p.Arg797Leu)
c.2678G>T (p.Arg893Leu)
n.2116G>T
c.3788G>T (p.Arg1263Leu)
c.3713G>T (p.Arg1238Leu)
c.2663G>T (p.Arg888Leu)
n.483G>T
c.2687G>T (p.Arg896Leu)
c.2738G>T (p.Arg913Leu)
c.2465G>T (p.Arg822Leu)
c.2789G>T (p.Arg930Leu)
c.2699G>T (p.Arg900Leu)
c.2690G>T (p.Arg897Leu)
dbSNP gnomAD v4
3g.123284681C=CA1398327474ADCY5c.2390G= (p.Arg797=)
c.2678G= (p.Arg893=)
n.2116G=
c.3788G= (p.Arg1263=)
c.3713G= (p.Arg1238=)
c.2663G= (p.Arg888=)
n.483G=
c.2687G= (p.Arg896=)
c.2738G= (p.Arg913=)
c.2465G= (p.Arg822=)
c.2789G= (p.Arg930=)
c.2699G= (p.Arg900=)
c.2690G= (p.Arg897=)
3g.123284681C>GCA354222039ADCY5c.2390G>C (p.Arg797Pro)
c.2678G>C (p.Arg893Pro)
n.2116G>C
c.3788G>C (p.Arg1263Pro)
c.3713G>C (p.Arg1238Pro)
c.2663G>C (p.Arg888Pro)
n.483G>C
c.2687G>C (p.Arg896Pro)
c.2738G>C (p.Arg913Pro)
c.2465G>C (p.Arg822Pro)
c.2789G>C (p.Arg930Pro)
c.2699G>C (p.Arg900Pro)
c.2690G>C (p.Arg897Pro)
COSMIC
3g.123284681C>TCA354222037ADCY5c.2390G>A (p.Arg797Gln)
c.2678G>A (p.Arg893Gln)
n.2116G>A
c.3788G>A (p.Arg1263Gln)
c.3713G>A (p.Arg1238Gln)
c.2663G>A (p.Arg888Gln)
n.483G>A
c.2687G>A (p.Arg896Gln)
c.2738G>A (p.Arg913Gln)
c.2465G>A (p.Arg822Gln)
c.2789G>A (p.Arg930Gln)
c.2699G>A (p.Arg900Gln)
c.2690G>A (p.Arg897Gln)
dbSNP gnomAD v2 gnomAD v4
3g.123284682G>ACA354222041ADCY5c.2389C>T (p.Arg797Trp)
c.2677C>T (p.Arg893Trp)
n.2115C>T
c.3787C>T (p.Arg1263Trp)
c.3712C>T (p.Arg1238Trp)
c.2662C>T (p.Arg888Trp)
n.482C>T
c.2686C>T (p.Arg896Trp)
c.2737C>T (p.Arg913Trp)
c.2464C>T (p.Arg822Trp)
c.2788C>T (p.Arg930Trp)
c.2698C>T (p.Arg900Trp)
c.2689C>T (p.Arg897Trp)
ClinVar dbSNP gnomAD v4
3g.123284682G>CCA354222043ADCY5c.2389C>G (p.Arg797Gly)
c.2677C>G (p.Arg893Gly)
n.2115C>G
c.3787C>G (p.Arg1263Gly)
c.3712C>G (p.Arg1238Gly)
c.2662C>G (p.Arg888Gly)
n.482C>G
c.2686C>G (p.Arg896Gly)
c.2737C>G (p.Arg913Gly)
c.2464C>G (p.Arg822Gly)
c.2788C>G (p.Arg930Gly)
c.2698C>G (p.Arg900Gly)
c.2689C>G (p.Arg897Gly)
3g.123284682G>TCA435297691ADCY5c.2389C>A (p.Arg797=)
c.2677C>A (p.Arg893=)
n.2115C>A
c.3787C>A (p.Arg1263=)
c.3712C>A (p.Arg1238=)
c.2662C>A (p.Arg888=)
n.482C>A
c.2686C>A (p.Arg896=)
c.2737C>A (p.Arg913=)
c.2464C>A (p.Arg822=)
c.2788C>A (p.Arg930=)
c.2698C>A (p.Arg900=)
c.2689C>A (p.Arg897=)
3g.123284683G>ACA435297692ADCY5c.2388C>T (p.Cys796=)
c.2676C>T (p.Cys892=)
n.2114C>T
c.3786C>T (p.Cys1262=)
c.3711C>T (p.Cys1237=)
c.2661C>T (p.Cys887=)
n.481C>T
c.2685C>T (p.Cys895=)
c.2736C>T (p.Cys912=)
c.2463C>T (p.Cys821=)
c.2787C>T (p.Cys929=)
c.2697C>T (p.Cys899=)
c.2688C>T (p.Cys896=)
3g.123284683G>CCA354222046ADCY5c.2388C>G (p.Cys796Trp)
c.2676C>G (p.Cys892Trp)
n.2114C>G
c.3786C>G (p.Cys1262Trp)
c.3711C>G (p.Cys1237Trp)
c.2661C>G (p.Cys887Trp)
n.481C>G
c.2685C>G (p.Cys895Trp)
c.2736C>G (p.Cys912Trp)
c.2463C>G (p.Cys821Trp)
c.2787C>G (p.Cys929Trp)
c.2697C>G (p.Cys899Trp)
c.2688C>G (p.Cys896Trp)
3g.123284683G=CA1398327475ADCY5c.2388C= (p.Cys796=)
c.2676C= (p.Cys892=)
n.2114C=
c.3786C= (p.Cys1262=)
c.3711C= (p.Cys1237=)
c.2661C= (p.Cys887=)
n.481C=
c.2685C= (p.Cys895=)
c.2736C= (p.Cys912=)
c.2463C= (p.Cys821=)
c.2787C= (p.Cys929=)
c.2697C= (p.Cys899=)
c.2688C= (p.Cys896=)
3g.123284683G>TCA354222048ADCY5c.2388C>A (p.Cys796Ter)
c.2676C>A (p.Cys892Ter)
n.2114C>A
c.3786C>A (p.Cys1262Ter)
c.3711C>A (p.Cys1237Ter)
c.2661C>A (p.Cys887Ter)
n.481C>A
c.2685C>A (p.Cys895Ter)
c.2736C>A (p.Cys912Ter)
c.2463C>A (p.Cys821Ter)
c.2787C>A (p.Cys929Ter)
c.2697C>A (p.Cys899Ter)
c.2688C>A (p.Cys896Ter)
dbSNP
3g.123284684C>ACA354222050ADCY5c.2387G>T (p.Cys796Phe)
c.2675G>T (p.Cys892Phe)
n.2113G>T
c.3785G>T (p.Cys1262Phe)
c.3710G>T (p.Cys1237Phe)
c.2660G>T (p.Cys887Phe)
n.480G>T
c.2684G>T (p.Cys895Phe)
c.2735G>T (p.Cys912Phe)
c.2462G>T (p.Cys821Phe)
c.2786G>T (p.Cys929Phe)
c.2696G>T (p.Cys899Phe)
c.2687G>T (p.Cys896Phe)
3g.123284684C>GCA354222052ADCY5c.2387G>C (p.Cys796Ser)
c.2675G>C (p.Cys892Ser)
n.2113G>C
c.3785G>C (p.Cys1262Ser)
c.3710G>C (p.Cys1237Ser)
c.2660G>C (p.Cys887Ser)
n.480G>C
c.2684G>C (p.Cys895Ser)
c.2735G>C (p.Cys912Ser)
c.2462G>C (p.Cys821Ser)
c.2786G>C (p.Cys929Ser)
c.2696G>C (p.Cys899Ser)
c.2687G>C (p.Cys896Ser)
3g.123284684C>TCA354222053ADCY5c.2387G>A (p.Cys796Tyr)
c.2675G>A (p.Cys892Tyr)
n.2113G>A
c.3785G>A (p.Cys1262Tyr)
c.3710G>A (p.Cys1237Tyr)
c.2660G>A (p.Cys887Tyr)
n.480G>A
c.2684G>A (p.Cys895Tyr)
c.2735G>A (p.Cys912Tyr)
c.2462G>A (p.Cys821Tyr)
c.2786G>A (p.Cys929Tyr)
c.2696G>A (p.Cys899Tyr)
c.2687G>A (p.Cys896Tyr)
ClinVar dbSNP
3g.123284685A>CCA354222055ADCY5c.2386T>G (p.Cys796Gly)
c.2674T>G (p.Cys892Gly)
n.2112T>G
c.3784T>G (p.Cys1262Gly)
c.3709T>G (p.Cys1237Gly)
c.2659T>G (p.Cys887Gly)
n.479T>G
c.2683T>G (p.Cys895Gly)
c.2734T>G (p.Cys912Gly)
c.2461T>G (p.Cys821Gly)
c.2785T>G (p.Cys929Gly)
c.2695T>G (p.Cys899Gly)
c.2686T>G (p.Cys896Gly)
3g.123284685A>GCA354222057ADCY5c.2386T>C (p.Cys796Arg)
c.2674T>C (p.Cys892Arg)
n.2112T>C
c.3784T>C (p.Cys1262Arg)
c.3709T>C (p.Cys1237Arg)
c.2659T>C (p.Cys887Arg)
n.479T>C
c.2683T>C (p.Cys895Arg)
c.2734T>C (p.Cys912Arg)
c.2461T>C (p.Cys821Arg)
c.2785T>C (p.Cys929Arg)
c.2695T>C (p.Cys899Arg)
c.2686T>C (p.Cys896Arg)
3g.123284685A>TCA354222059ADCY5c.2386T>A (p.Cys796Ser)
c.2674T>A (p.Cys892Ser)
n.2112T>A
c.3784T>A (p.Cys1262Ser)
c.3709T>A (p.Cys1237Ser)
c.2659T>A (p.Cys887Ser)
n.479T>A
c.2683T>A (p.Cys895Ser)
c.2734T>A (p.Cys912Ser)
c.2461T>A (p.Cys821Ser)
c.2785T>A (p.Cys929Ser)
c.2695T>A (p.Cys899Ser)
c.2686T>A (p.Cys896Ser)
3g.123284686C>ACA354222061ADCY5c.2385G>T (p.Glu795Asp)
c.2673G>T (p.Glu891Asp)
n.2111G>T
c.3783G>T (p.Glu1261Asp)
c.3708G>T (p.Glu1236Asp)
c.2658G>T (p.Glu886Asp)
n.478G>T
c.2682G>T (p.Glu894Asp)
c.2733G>T (p.Glu911Asp)
c.2460G>T (p.Glu820Asp)
c.2784G>T (p.Glu928Asp)
c.2694G>T (p.Glu898Asp)
c.2685G>T (p.Glu895Asp)
3g.123284686C=CA1398327476ADCY5c.2385G= (p.Glu795=)
c.2673G= (p.Glu891=)
n.2111G=
c.3783G= (p.Glu1261=)
c.3708G= (p.Glu1236=)
c.2658G= (p.Glu886=)
n.478G=
c.2682G= (p.Glu894=)
c.2733G= (p.Glu911=)
c.2460G= (p.Glu820=)
c.2784G= (p.Glu928=)
c.2694G= (p.Glu898=)
c.2685G= (p.Glu895=)
3g.123284686C>GCA354222063ADCY5c.2385G>C (p.Glu795Asp)
c.2673G>C (p.Glu891Asp)
n.2111G>C
c.3783G>C (p.Glu1261Asp)
c.3708G>C (p.Glu1236Asp)
c.2658G>C (p.Glu886Asp)
n.478G>C
c.2682G>C (p.Glu894Asp)
c.2733G>C (p.Glu911Asp)
c.2460G>C (p.Glu820Asp)
c.2784G>C (p.Glu928Asp)
c.2694G>C (p.Glu898Asp)
c.2685G>C (p.Glu895Asp)
3g.123284686C>TCA435297693ADCY5c.2385G>A (p.Glu795=)
c.2673G>A (p.Glu891=)
n.2111G>A
c.3783G>A (p.Glu1261=)
c.3708G>A (p.Glu1236=)
c.2658G>A (p.Glu886=)
n.478G>A
c.2682G>A (p.Glu894=)
c.2733G>A (p.Glu911=)
c.2460G>A (p.Glu820=)
c.2784G>A (p.Glu928=)
c.2694G>A (p.Glu898=)
c.2685G>A (p.Glu895=)
dbSNP
3g.123284687T>ACA354222065ADCY5c.2384A>T (p.Glu795Val)
c.2672A>T (p.Glu891Val)
n.2110A>T
c.3782A>T (p.Glu1261Val)
c.3707A>T (p.Glu1236Val)
c.2657A>T (p.Glu886Val)
n.477A>T
c.2681A>T (p.Glu894Val)
c.2732A>T (p.Glu911Val)
c.2459A>T (p.Glu820Val)
c.2783A>T (p.Glu928Val)
c.2693A>T (p.Glu898Val)
c.2684A>T (p.Glu895Val)
3g.123284687T>CCA354222067ADCY5c.2384A>G (p.Glu795Gly)
c.2672A>G (p.Glu891Gly)
n.2110A>G
c.3782A>G (p.Glu1261Gly)
c.3707A>G (p.Glu1236Gly)
c.2657A>G (p.Glu886Gly)
n.477A>G
c.2681A>G (p.Glu894Gly)
c.2732A>G (p.Glu911Gly)
c.2459A>G (p.Glu820Gly)
c.2783A>G (p.Glu928Gly)
c.2693A>G (p.Glu898Gly)
c.2684A>G (p.Glu895Gly)
3g.123284687T>GCA354222069ADCY5c.2384A>C (p.Glu795Ala)
c.2672A>C (p.Glu891Ala)
n.2110A>C
c.3782A>C (p.Glu1261Ala)
c.3707A>C (p.Glu1236Ala)
c.2657A>C (p.Glu886Ala)
n.477A>C
c.2681A>C (p.Glu894Ala)
c.2732A>C (p.Glu911Ala)
c.2459A>C (p.Glu820Ala)
c.2783A>C (p.Glu928Ala)
c.2693A>C (p.Glu898Ala)
c.2684A>C (p.Glu895Ala)
3g.123284688C>ACA354222072ADCY5c.2383G>T (p.Glu795Ter)
c.2671G>T (p.Glu891Ter)
n.2109G>T
c.3781G>T (p.Glu1261Ter)
c.3706G>T (p.Glu1236Ter)
c.2656G>T (p.Glu886Ter)
n.476G>T
c.2680G>T (p.Glu894Ter)
c.2731G>T (p.Glu911Ter)
c.2458G>T (p.Glu820Ter)
c.2782G>T (p.Glu928Ter)
c.2692G>T (p.Glu898Ter)
c.2683G>T (p.Glu895Ter)
dbSNP
3g.123284688C=CA1398327477ADCY5c.2383G= (p.Glu795=)
c.2671G= (p.Glu891=)
n.2109G=
c.3781G= (p.Glu1261=)
c.3706G= (p.Glu1236=)
c.2656G= (p.Glu886=)
n.476G=
c.2680G= (p.Glu894=)
c.2731G= (p.Glu911=)
c.2458G= (p.Glu820=)
c.2782G= (p.Glu928=)
c.2692G= (p.Glu898=)
c.2683G= (p.Glu895=)
3g.123284688C>GCA354222076ADCY5c.2383G>C (p.Glu795Gln)
c.2671G>C (p.Glu891Gln)
n.2109G>C
c.3781G>C (p.Glu1261Gln)
c.3706G>C (p.Glu1236Gln)
c.2656G>C (p.Glu886Gln)
n.476G>C
c.2680G>C (p.Glu894Gln)
c.2731G>C (p.Glu911Gln)
c.2458G>C (p.Glu820Gln)
c.2782G>C (p.Glu928Gln)
c.2692G>C (p.Glu898Gln)
c.2683G>C (p.Glu895Gln)
3g.123284688C>TCA354222073ADCY5c.2383G>A (p.Glu795Lys)
c.2671G>A (p.Glu891Lys)
n.2109G>A
c.3781G>A (p.Glu1261Lys)
c.3706G>A (p.Glu1236Lys)
c.2656G>A (p.Glu886Lys)
n.476G>A
c.2680G>A (p.Glu894Lys)
c.2731G>A (p.Glu911Lys)
c.2458G>A (p.Glu820Lys)
c.2782G>A (p.Glu928Lys)
c.2692G>A (p.Glu898Lys)
c.2683G>A (p.Glu895Lys)
3g.123284689C>ACA435297694ADCY5c.2382G>T (p.Leu794=)
c.2670G>T (p.Leu890=)
n.2108G>T
c.3780G>T (p.Leu1260=)
c.3705G>T (p.Leu1235=)
c.2655G>T (p.Leu885=)
n.475G>T
c.2679G>T (p.Leu893=)
c.2730G>T (p.Leu910=)
c.2457G>T (p.Leu819=)
c.2781G>T (p.Leu927=)
c.2691G>T (p.Leu897=)
c.2682G>T (p.Leu894=)
3g.123284689C=CA1398327478ADCY5c.2382G= (p.Leu794=)
c.2670G= (p.Leu890=)
n.2108G=
c.3780G= (p.Leu1260=)
c.3705G= (p.Leu1235=)
c.2655G= (p.Leu885=)
n.475G=
c.2679G= (p.Leu893=)
c.2730G= (p.Leu910=)
c.2457G= (p.Leu819=)
c.2781G= (p.Leu927=)
c.2691G= (p.Leu897=)
c.2682G= (p.Leu894=)
3g.123284689C>GCA435297695ADCY5c.2382G>C (p.Leu794=)
c.2670G>C (p.Leu890=)
n.2108G>C
c.3780G>C (p.Leu1260=)
c.3705G>C (p.Leu1235=)
c.2655G>C (p.Leu885=)
n.475G>C
c.2679G>C (p.Leu893=)
c.2730G>C (p.Leu910=)
c.2457G>C (p.Leu819=)
c.2781G>C (p.Leu927=)
c.2691G>C (p.Leu897=)
c.2682G>C (p.Leu894=)
3g.123284689C>TCA2576696ADCY5c.2382G>A (p.Leu794=)
c.2670G>A (p.Leu890=)
n.2108G>A
c.3780G>A (p.Leu1260=)
c.3705G>A (p.Leu1235=)
c.2655G>A (p.Leu885=)
n.475G>A
c.2679G>A (p.Leu893=)
c.2730G>A (p.Leu910=)
c.2457G>A (p.Leu819=)
c.2781G>A (p.Leu927=)
c.2691G>A (p.Leu897=)
c.2682G>A (p.Leu894=)
dbSNP ExAC gnomAD v4
3g.123284690A>CCA354222079ADCY5c.2381T>G (p.Leu794Arg)
c.2669T>G (p.Leu890Arg)
n.2107T>G
c.3779T>G (p.Leu1260Arg)
c.3704T>G (p.Leu1235Arg)
c.2654T>G (p.Leu885Arg)
n.474T>G
c.2678T>G (p.Leu893Arg)
c.2729T>G (p.Leu910Arg)
c.2456T>G (p.Leu819Arg)
c.2780T>G (p.Leu927Arg)
c.2690T>G (p.Leu897Arg)
c.2681T>G (p.Leu894Arg)
3g.123284690A>GCA354222081ADCY5c.2381T>C (p.Leu794Pro)
c.2669T>C (p.Leu890Pro)
n.2107T>C
c.3779T>C (p.Leu1260Pro)
c.3704T>C (p.Leu1235Pro)
c.2654T>C (p.Leu885Pro)
n.474T>C
c.2678T>C (p.Leu893Pro)
c.2729T>C (p.Leu910Pro)
c.2456T>C (p.Leu819Pro)
c.2780T>C (p.Leu927Pro)
c.2690T>C (p.Leu897Pro)
c.2681T>C (p.Leu894Pro)
3g.123284690A>TCA354222083ADCY5c.2381T>A (p.Leu794Gln)
c.2669T>A (p.Leu890Gln)
n.2107T>A
c.3779T>A (p.Leu1260Gln)
c.3704T>A (p.Leu1235Gln)
c.2654T>A (p.Leu885Gln)
n.474T>A
c.2678T>A (p.Leu893Gln)
c.2729T>A (p.Leu910Gln)
c.2456T>A (p.Leu819Gln)
c.2780T>A (p.Leu927Gln)
c.2690T>A (p.Leu897Gln)
c.2681T>A (p.Leu894Gln)
3g.123284691G>ACA435297696ADCY5c.2380C>T (p.Leu794=)
c.2668C>T (p.Leu890=)
n.2106C>T
c.3778C>T (p.Leu1260=)
c.3703C>T (p.Leu1235=)
c.2653C>T (p.Leu885=)
n.473C>T
c.2677C>T (p.Leu893=)
c.2728C>T (p.Leu910=)
c.2455C>T (p.Leu819=)
c.2779C>T (p.Leu927=)
c.2689C>T (p.Leu897=)
c.2680C>T (p.Leu894=)
3g.123284691G>CCA354222084ADCY5c.2380C>G (p.Leu794Val)
c.2668C>G (p.Leu890Val)
n.2106C>G
c.3778C>G (p.Leu1260Val)
c.3703C>G (p.Leu1235Val)
c.2653C>G (p.Leu885Val)
n.473C>G
c.2677C>G (p.Leu893Val)
c.2728C>G (p.Leu910Val)
c.2455C>G (p.Leu819Val)
c.2779C>G (p.Leu927Val)
c.2689C>G (p.Leu897Val)
c.2680C>G (p.Leu894Val)
3g.123284691G>TCA354222085ADCY5c.2380C>A (p.Leu794Met)
c.2668C>A (p.Leu890Met)
n.2106C>A
c.3778C>A (p.Leu1260Met)
c.3703C>A (p.Leu1235Met)
c.2653C>A (p.Leu885Met)
n.473C>A
c.2677C>A (p.Leu893Met)
c.2728C>A (p.Leu910Met)
c.2455C>A (p.Leu819Met)
c.2779C>A (p.Leu927Met)
c.2689C>A (p.Leu897Met)
c.2680C>A (p.Leu894Met)
3g.123284692C>ACA354222086ADCY5c.2379G>T (p.Gln793His)
c.2667G>T (p.Gln889His)
n.2105G>T
c.3777G>T (p.Gln1259His)
c.3702G>T (p.Gln1234His)
c.2652G>T (p.Gln884His)
n.472G>T
c.2676G>T (p.Gln892His)
c.2727G>T (p.Gln909His)
c.2454G>T (p.Gln818His)
c.2778G>T (p.Gln926His)
c.2688G>T (p.Gln896His)
c.2679G>T (p.Gln893His)
3g.123284692C>GCA354222087ADCY5c.2379G>C (p.Gln793His)
c.2667G>C (p.Gln889His)
n.2105G>C
c.3777G>C (p.Gln1259His)
c.3702G>C (p.Gln1234His)
c.2652G>C (p.Gln884His)
n.472G>C
c.2676G>C (p.Gln892His)
c.2727G>C (p.Gln909His)
c.2454G>C (p.Gln818His)
c.2778G>C (p.Gln926His)
c.2688G>C (p.Gln896His)
c.2679G>C (p.Gln893His)
3g.123284692C>TCA435297697ADCY5c.2379G>A (p.Gln793=)
c.2667G>A (p.Gln889=)
n.2105G>A
c.3777G>A (p.Gln1259=)
c.3702G>A (p.Gln1234=)
c.2652G>A (p.Gln884=)
n.472G>A
c.2676G>A (p.Gln892=)
c.2727G>A (p.Gln909=)
c.2454G>A (p.Gln818=)
c.2778G>A (p.Gln926=)
c.2688G>A (p.Gln896=)
c.2679G>A (p.Gln893=)
3g.123284693T>ACA82899776ADCY5c.2378A>T (p.Gln793Leu)
c.2666A>T (p.Gln889Leu)
n.2104A>T
c.3776A>T (p.Gln1259Leu)
c.3701A>T (p.Gln1234Leu)
c.2651A>T (p.Gln884Leu)
n.471A>T
c.2675A>T (p.Gln892Leu)
c.2726A>T (p.Gln909Leu)
c.2453A>T (p.Gln818Leu)
c.2777A>T (p.Gln926Leu)
c.2687A>T (p.Gln896Leu)
c.2678A>T (p.Gln893Leu)
dbSNP gnomAD v4
3g.123284693T>CCA354222088ADCY5c.2378A>G (p.Gln793Arg)
c.2666A>G (p.Gln889Arg)
n.2104A>G
c.3776A>G (p.Gln1259Arg)
c.3701A>G (p.Gln1234Arg)
c.2651A>G (p.Gln884Arg)
n.471A>G
c.2675A>G (p.Gln892Arg)
c.2726A>G (p.Gln909Arg)
c.2453A>G (p.Gln818Arg)
c.2777A>G (p.Gln926Arg)
c.2687A>G (p.Gln896Arg)
c.2678A>G (p.Gln893Arg)
3g.123284693T>GCA354222089ADCY5c.2378A>C (p.Gln793Pro)
c.2666A>C (p.Gln889Pro)
n.2104A>C
c.3776A>C (p.Gln1259Pro)
c.3701A>C (p.Gln1234Pro)
c.2651A>C (p.Gln884Pro)
n.471A>C
c.2675A>C (p.Gln892Pro)
c.2726A>C (p.Gln909Pro)
c.2453A>C (p.Gln818Pro)
c.2777A>C (p.Gln926Pro)
c.2687A>C (p.Gln896Pro)
c.2678A>C (p.Gln893Pro)
3g.123284693T=CA1398327479ADCY5c.2378A= (p.Gln793=)
c.2666A= (p.Gln889=)
n.2104A=
c.3776A= (p.Gln1259=)
c.3701A= (p.Gln1234=)
c.2651A= (p.Gln884=)
n.471A=
c.2675A= (p.Gln892=)
c.2726A= (p.Gln909=)
c.2453A= (p.Gln818=)
c.2777A= (p.Gln926=)
c.2687A= (p.Gln896=)
c.2678A= (p.Gln893=)
3g.123284694G>ACA354222092ADCY5c.2377C>T (p.Gln793Ter)
c.2665C>T (p.Gln889Ter)
n.2103C>T
c.3775C>T (p.Gln1259Ter)
c.3700C>T (p.Gln1234Ter)
c.2650C>T (p.Gln884Ter)
n.470C>T
c.2674C>T (p.Gln892Ter)
c.2725C>T (p.Gln909Ter)
c.2452C>T (p.Gln818Ter)
c.2776C>T (p.Gln926Ter)
c.2686C>T (p.Gln896Ter)
c.2677C>T (p.Gln893Ter)
dbSNP
3g.123284694G>CCA354222091ADCY5c.2377C>G (p.Gln793Glu)
c.2665C>G (p.Gln889Glu)
n.2103C>G
c.3775C>G (p.Gln1259Glu)
c.3700C>G (p.Gln1234Glu)
c.2650C>G (p.Gln884Glu)
n.470C>G
c.2674C>G (p.Gln892Glu)
c.2725C>G (p.Gln909Glu)
c.2452C>G (p.Gln818Glu)
c.2776C>G (p.Gln926Glu)
c.2686C>G (p.Gln896Glu)
c.2677C>G (p.Gln893Glu)
3g.123284694G=CA1398327480ADCY5c.2377C= (p.Gln793=)
c.2665C= (p.Gln889=)
n.2103C=
c.3775C= (p.Gln1259=)
c.3700C= (p.Gln1234=)
c.2650C= (p.Gln884=)
n.470C=
c.2674C= (p.Gln892=)
c.2725C= (p.Gln909=)
c.2452C= (p.Gln818=)
c.2776C= (p.Gln926=)
c.2686C= (p.Gln896=)
c.2677C= (p.Gln893=)
3g.123284694G>TCA354222090ADCY5c.2377C>A (p.Gln793Lys)
c.2665C>A (p.Gln889Lys)
n.2103C>A
c.3775C>A (p.Gln1259Lys)
c.3700C>A (p.Gln1234Lys)
c.2650C>A (p.Gln884Lys)
n.470C>A
c.2674C>A (p.Gln892Lys)
c.2725C>A (p.Gln909Lys)
c.2452C>A (p.Gln818Lys)
c.2776C>A (p.Gln926Lys)
c.2686C>A (p.Gln896Lys)
c.2677C>A (p.Gln893Lys)
gnomAD v4
3g.123284695G>ACA435297698ADCY5c.2376C>T (p.Tyr792=)
c.2664C>T (p.Tyr888=)
n.2102C>T
c.3774C>T (p.Tyr1258=)
c.3699C>T (p.Tyr1233=)
c.2649C>T (p.Tyr883=)
n.469C>T
c.2673C>T (p.Tyr891=)
c.2724C>T (p.Tyr908=)
c.2451C>T (p.Tyr817=)
c.2775C>T (p.Tyr925=)
c.2685C>T (p.Tyr895=)
c.2676C>T (p.Tyr892=)
3g.123284695G>CCA354222094ADCY5c.2376C>G (p.Tyr792Ter)
c.2664C>G (p.Tyr888Ter)
n.2102C>G
c.3774C>G (p.Tyr1258Ter)
c.3699C>G (p.Tyr1233Ter)
c.2649C>G (p.Tyr883Ter)
n.469C>G
c.2673C>G (p.Tyr891Ter)
c.2724C>G (p.Tyr908Ter)
c.2451C>G (p.Tyr817Ter)
c.2775C>G (p.Tyr925Ter)
c.2685C>G (p.Tyr895Ter)
c.2676C>G (p.Tyr892Ter)
3g.123284695G>TCA354222093ADCY5c.2376C>A (p.Tyr792Ter)
c.2664C>A (p.Tyr888Ter)
n.2102C>A
c.3774C>A (p.Tyr1258Ter)
c.3699C>A (p.Tyr1233Ter)
c.2649C>A (p.Tyr883Ter)
n.469C>A
c.2673C>A (p.Tyr891Ter)
c.2724C>A (p.Tyr908Ter)
c.2451C>A (p.Tyr817Ter)
c.2775C>A (p.Tyr925Ter)
c.2685C>A (p.Tyr895Ter)
c.2676C>A (p.Tyr892Ter)
3g.123284696T>ACA354222095ADCY5c.2375A>T (p.Tyr792Phe)
c.2663A>T (p.Tyr888Phe)
n.2101A>T
c.3773A>T (p.Tyr1258Phe)
c.3698A>T (p.Tyr1233Phe)
c.2648A>T (p.Tyr883Phe)
n.468A>T
c.2672A>T (p.Tyr891Phe)
c.2723A>T (p.Tyr908Phe)
c.2450A>T (p.Tyr817Phe)
c.2774A>T (p.Tyr925Phe)
c.2684A>T (p.Tyr895Phe)
c.2675A>T (p.Tyr892Phe)
3g.123284696T>CCA354222096ADCY5c.2375A>G (p.Tyr792Cys)
c.2663A>G (p.Tyr888Cys)
n.2101A>G
c.3773A>G (p.Tyr1258Cys)
c.3698A>G (p.Tyr1233Cys)
c.2648A>G (p.Tyr883Cys)
n.468A>G
c.2672A>G (p.Tyr891Cys)
c.2723A>G (p.Tyr908Cys)
c.2450A>G (p.Tyr817Cys)
c.2774A>G (p.Tyr925Cys)
c.2684A>G (p.Tyr895Cys)
c.2675A>G (p.Tyr892Cys)
3g.123284696T>GCA354222097ADCY5c.2375A>C (p.Tyr792Ser)
c.2663A>C (p.Tyr888Ser)
n.2101A>C
c.3773A>C (p.Tyr1258Ser)
c.3698A>C (p.Tyr1233Ser)
c.2648A>C (p.Tyr883Ser)
n.468A>C
c.2672A>C (p.Tyr891Ser)
c.2723A>C (p.Tyr908Ser)
c.2450A>C (p.Tyr817Ser)
c.2774A>C (p.Tyr925Ser)
c.2684A>C (p.Tyr895Ser)
c.2675A>C (p.Tyr892Ser)
3g.123284697A>CCA354222098ADCY5c.2374T>G (p.Tyr792Asp)
c.2662T>G (p.Tyr888Asp)
n.2100T>G
c.3772T>G (p.Tyr1258Asp)
c.3697T>G (p.Tyr1233Asp)
c.2647T>G (p.Tyr883Asp)
n.467T>G
c.2671T>G (p.Tyr891Asp)
c.2722T>G (p.Tyr908Asp)
c.2449T>G (p.Tyr817Asp)
c.2773T>G (p.Tyr925Asp)
c.2683T>G (p.Tyr895Asp)
c.2674T>G (p.Tyr892Asp)
3g.123284697A>GCA354222099ADCY5c.2374T>C (p.Tyr792His)
c.2662T>C (p.Tyr888His)
n.2100T>C
c.3772T>C (p.Tyr1258His)
c.3697T>C (p.Tyr1233His)
c.2647T>C (p.Tyr883His)
n.467T>C
c.2671T>C (p.Tyr891His)
c.2722T>C (p.Tyr908His)
c.2449T>C (p.Tyr817His)
c.2773T>C (p.Tyr925His)
c.2683T>C (p.Tyr895His)
c.2674T>C (p.Tyr892His)
3g.123284697A>TCA354222100ADCY5c.2374T>A (p.Tyr792Asn)
c.2662T>A (p.Tyr888Asn)
n.2100T>A
c.3772T>A (p.Tyr1258Asn)
c.3697T>A (p.Tyr1233Asn)
c.2647T>A (p.Tyr883Asn)
n.467T>A
c.2671T>A (p.Tyr891Asn)
c.2722T>A (p.Tyr908Asn)
c.2449T>A (p.Tyr817Asn)
c.2773T>A (p.Tyr925Asn)
c.2683T>A (p.Tyr895Asn)
c.2674T>A (p.Tyr892Asn)
3g.123284698C>ACA2576698ADCY5c.2373G>T (p.Thr791=)
c.2661G>T (p.Thr887=)
n.2099G>T
c.3771G>T (p.Thr1257=)
c.3696G>T (p.Thr1232=)
c.2646G>T (p.Thr882=)
n.466G>T
c.2670G>T (p.Thr890=)
c.2721G>T (p.Thr907=)
c.2448G>T (p.Thr816=)
c.2772G>T (p.Thr924=)
c.2682G>T (p.Thr894=)
c.2673G>T (p.Thr891=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284698C=CA1398327481ADCY5c.2373G= (p.Thr791=)
c.2661G= (p.Thr887=)
n.2099G=
c.3771G= (p.Thr1257=)
c.3696G= (p.Thr1232=)
c.2646G= (p.Thr882=)
n.466G=
c.2670G= (p.Thr890=)
c.2721G= (p.Thr907=)
c.2448G= (p.Thr816=)
c.2772G= (p.Thr924=)
c.2682G= (p.Thr894=)
c.2673G= (p.Thr891=)
3g.123284698C>GCA435297699ADCY5c.2373G>C (p.Thr791=)
c.2661G>C (p.Thr887=)
n.2099G>C
c.3771G>C (p.Thr1257=)
c.3696G>C (p.Thr1232=)
c.2646G>C (p.Thr882=)
n.466G>C
c.2670G>C (p.Thr890=)
c.2721G>C (p.Thr907=)
c.2448G>C (p.Thr816=)
c.2772G>C (p.Thr924=)
c.2682G>C (p.Thr894=)
c.2673G>C (p.Thr891=)
3g.123284698C>TCA2576697ADCY5c.2373G>A (p.Thr791=)
c.2661G>A (p.Thr887=)
n.2099G>A
c.3771G>A (p.Thr1257=)
c.3696G>A (p.Thr1232=)
c.2646G>A (p.Thr882=)
n.466G>A
c.2670G>A (p.Thr890=)
c.2721G>A (p.Thr907=)
c.2448G>A (p.Thr816=)
c.2772G>A (p.Thr924=)
c.2682G>A (p.Thr894=)
c.2673G>A (p.Thr891=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284699G>ACA2576699ADCY5c.2372C>T (p.Thr791Met)
c.2660C>T (p.Thr887Met)
n.2098C>T
c.3770C>T (p.Thr1257Met)
c.3695C>T (p.Thr1232Met)
c.2645C>T (p.Thr882Met)
n.465C>T
c.2669C>T (p.Thr890Met)
c.2720C>T (p.Thr907Met)
c.2447C>T (p.Thr816Met)
c.2771C>T (p.Thr924Met)
c.2681C>T (p.Thr894Met)
c.2672C>T (p.Thr891Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284699G>CCA354222101ADCY5c.2372C>G (p.Thr791Arg)
c.2660C>G (p.Thr887Arg)
n.2098C>G
c.3770C>G (p.Thr1257Arg)
c.3695C>G (p.Thr1232Arg)
c.2645C>G (p.Thr882Arg)
n.465C>G
c.2669C>G (p.Thr890Arg)
c.2720C>G (p.Thr907Arg)
c.2447C>G (p.Thr816Arg)
c.2771C>G (p.Thr924Arg)
c.2681C>G (p.Thr894Arg)
c.2672C>G (p.Thr891Arg)
3g.123284699G=CA1398327482ADCY5c.2372C= (p.Thr791=)
c.2660C= (p.Thr887=)
n.2098C=
c.3770C= (p.Thr1257=)
c.3695C= (p.Thr1232=)
c.2645C= (p.Thr882=)
n.465C=
c.2669C= (p.Thr890=)
c.2720C= (p.Thr907=)
c.2447C= (p.Thr816=)
c.2771C= (p.Thr924=)
c.2681C= (p.Thr894=)
c.2672C= (p.Thr891=)
3g.123284699G>TCA354222102ADCY5c.2372C>A (p.Thr791Lys)
c.2660C>A (p.Thr887Lys)
n.2098C>A
c.3770C>A (p.Thr1257Lys)
c.3695C>A (p.Thr1232Lys)
c.2645C>A (p.Thr882Lys)
n.465C>A
c.2669C>A (p.Thr890Lys)
c.2720C>A (p.Thr907Lys)
c.2447C>A (p.Thr816Lys)
c.2771C>A (p.Thr924Lys)
c.2681C>A (p.Thr894Lys)
c.2672C>A (p.Thr891Lys)
dbSNP gnomAD v4
3g.123284700T>ACA354222104ADCY5c.2371A>T (p.Thr791Ser)
c.2659A>T (p.Thr887Ser)
n.2097A>T
c.3769A>T (p.Thr1257Ser)
c.3694A>T (p.Thr1232Ser)
c.2644A>T (p.Thr882Ser)
n.464A>T
c.2668A>T (p.Thr890Ser)
c.2719A>T (p.Thr907Ser)
c.2446A>T (p.Thr816Ser)
c.2770A>T (p.Thr924Ser)
c.2680A>T (p.Thr894Ser)
c.2671A>T (p.Thr891Ser)
3g.123284700T>CCA354222105ADCY5c.2371A>G (p.Thr791Ala)
c.2659A>G (p.Thr887Ala)
n.2097A>G
c.3769A>G (p.Thr1257Ala)
c.3694A>G (p.Thr1232Ala)
c.2644A>G (p.Thr882Ala)
n.464A>G
c.2668A>G (p.Thr890Ala)
c.2719A>G (p.Thr907Ala)
c.2446A>G (p.Thr816Ala)
c.2770A>G (p.Thr924Ala)
c.2680A>G (p.Thr894Ala)
c.2671A>G (p.Thr891Ala)
3g.123284700T>GCA354222103ADCY5c.2371A>C (p.Thr791Pro)
c.2659A>C (p.Thr887Pro)
n.2097A>C
c.3769A>C (p.Thr1257Pro)
c.3694A>C (p.Thr1232Pro)
c.2644A>C (p.Thr882Pro)
n.464A>C
c.2668A>C (p.Thr890Pro)
c.2719A>C (p.Thr907Pro)
c.2446A>C (p.Thr816Pro)
c.2770A>C (p.Thr924Pro)
c.2680A>C (p.Thr894Pro)
c.2671A>C (p.Thr891Pro)
3g.123284701G>ACA435297700ADCY5c.2370C>T (p.Asn790=)
c.2658C>T (p.Asn886=)
n.2096C>T
c.3768C>T (p.Asn1256=)
c.3693C>T (p.Asn1231=)
c.2643C>T (p.Asn881=)
n.463C>T
c.2667C>T (p.Asn889=)
c.2718C>T (p.Asn906=)
c.2445C>T (p.Asn815=)
c.2769C>T (p.Asn923=)
c.2679C>T (p.Asn893=)
c.2670C>T (p.Asn890=)
3g.123284701G>CCA354222106ADCY5c.2370C>G (p.Asn790Lys)
c.2658C>G (p.Asn886Lys)
n.2096C>G
c.3768C>G (p.Asn1256Lys)
c.3693C>G (p.Asn1231Lys)
c.2643C>G (p.Asn881Lys)
n.463C>G
c.2667C>G (p.Asn889Lys)
c.2718C>G (p.Asn906Lys)
c.2445C>G (p.Asn815Lys)
c.2769C>G (p.Asn923Lys)
c.2679C>G (p.Asn893Lys)
c.2670C>G (p.Asn890Lys)
3g.123284701G>TCA354222107ADCY5c.2370C>A (p.Asn790Lys)
c.2658C>A (p.Asn886Lys)
n.2096C>A
c.3768C>A (p.Asn1256Lys)
c.3693C>A (p.Asn1231Lys)
c.2643C>A (p.Asn881Lys)
n.463C>A
c.2667C>A (p.Asn889Lys)
c.2718C>A (p.Asn906Lys)
c.2445C>A (p.Asn815Lys)
c.2769C>A (p.Asn923Lys)
c.2679C>A (p.Asn893Lys)
c.2670C>A (p.Asn890Lys)
3g.123284702T>ACA354222108ADCY5c.2369A>T (p.Asn790Ile)
c.2657A>T (p.Asn886Ile)
n.2095A>T
c.3767A>T (p.Asn1256Ile)
c.3692A>T (p.Asn1231Ile)
c.2642A>T (p.Asn881Ile)
n.462A>T
c.2666A>T (p.Asn889Ile)
c.2717A>T (p.Asn906Ile)
c.2444A>T (p.Asn815Ile)
c.2768A>T (p.Asn923Ile)
c.2678A>T (p.Asn893Ile)
c.2669A>T (p.Asn890Ile)
3g.123284702T>CCA354222109ADCY5c.2369A>G (p.Asn790Ser)
c.2657A>G (p.Asn886Ser)
n.2095A>G
c.3767A>G (p.Asn1256Ser)
c.3692A>G (p.Asn1231Ser)
c.2642A>G (p.Asn881Ser)
n.462A>G
c.2666A>G (p.Asn889Ser)
c.2717A>G (p.Asn906Ser)
c.2444A>G (p.Asn815Ser)
c.2768A>G (p.Asn923Ser)
c.2678A>G (p.Asn893Ser)
c.2669A>G (p.Asn890Ser)
3g.123284702T>GCA354222110ADCY5c.2369A>C (p.Asn790Thr)
c.2657A>C (p.Asn886Thr)
n.2095A>C
c.3767A>C (p.Asn1256Thr)
c.3692A>C (p.Asn1231Thr)
c.2642A>C (p.Asn881Thr)
n.462A>C
c.2666A>C (p.Asn889Thr)
c.2717A>C (p.Asn906Thr)
c.2444A>C (p.Asn815Thr)
c.2768A>C (p.Asn923Thr)
c.2678A>C (p.Asn893Thr)
c.2669A>C (p.Asn890Thr)
3g.123284703T>ACA354222113ADCY5c.2368A>T (p.Asn790Tyr)
c.2656A>T (p.Asn886Tyr)
n.2094A>T
c.3766A>T (p.Asn1256Tyr)
c.3691A>T (p.Asn1231Tyr)
c.2641A>T (p.Asn881Tyr)
n.461A>T
c.2665A>T (p.Asn889Tyr)
c.2716A>T (p.Asn906Tyr)
c.2443A>T (p.Asn815Tyr)
c.2767A>T (p.Asn923Tyr)
c.2677A>T (p.Asn893Tyr)
c.2668A>T (p.Asn890Tyr)
3g.123284703T>CCA354222111ADCY5c.2368A>G (p.Asn790Asp)
c.2656A>G (p.Asn886Asp)
n.2094A>G
c.3766A>G (p.Asn1256Asp)
c.3691A>G (p.Asn1231Asp)
c.2641A>G (p.Asn881Asp)
n.461A>G
c.2665A>G (p.Asn889Asp)
c.2716A>G (p.Asn906Asp)
c.2443A>G (p.Asn815Asp)
c.2767A>G (p.Asn923Asp)
c.2677A>G (p.Asn893Asp)
c.2668A>G (p.Asn890Asp)
gnomAD v4
3g.123284703T>GCA354222112ADCY5c.2368A>C (p.Asn790His)
c.2656A>C (p.Asn886His)
n.2094A>C
c.3766A>C (p.Asn1256His)
c.3691A>C (p.Asn1231His)
c.2641A>C (p.Asn881His)
n.461A>C
c.2665A>C (p.Asn889His)
c.2716A>C (p.Asn906His)
c.2443A>C (p.Asn815His)
c.2767A>C (p.Asn923His)
c.2677A>C (p.Asn893His)
c.2668A>C (p.Asn890His)
3g.123284704G>ACA435297701ADCY5c.2367C>T (p.Ala789=)
c.2655C>T (p.Ala885=)
n.2093C>T
c.3765C>T (p.Ala1255=)
c.3690C>T (p.Ala1230=)
c.2640C>T (p.Ala880=)
n.460C>T
c.2664C>T (p.Ala888=)
c.2715C>T (p.Ala905=)
c.2442C>T (p.Ala814=)
c.2766C>T (p.Ala922=)
c.2676C>T (p.Ala892=)
c.2667C>T (p.Ala889=)
dbSNP gnomAD v2 gnomAD v4
3g.123284704G>CCA435297702ADCY5c.2367C>G (p.Ala789=)
c.2655C>G (p.Ala885=)
n.2093C>G
c.3765C>G (p.Ala1255=)
c.3690C>G (p.Ala1230=)
c.2640C>G (p.Ala880=)
n.460C>G
c.2664C>G (p.Ala888=)
c.2715C>G (p.Ala905=)
c.2442C>G (p.Ala814=)
c.2766C>G (p.Ala922=)
c.2676C>G (p.Ala892=)
c.2667C>G (p.Ala889=)
3g.123284704G=CA1398327483ADCY5c.2367C= (p.Ala789=)
c.2655C= (p.Ala885=)
n.2093C=
c.3765C= (p.Ala1255=)
c.3690C= (p.Ala1230=)
c.2640C= (p.Ala880=)
n.460C=
c.2664C= (p.Ala888=)
c.2715C= (p.Ala905=)
c.2442C= (p.Ala814=)
c.2766C= (p.Ala922=)
c.2676C= (p.Ala892=)
c.2667C= (p.Ala889=)
3g.123284704G>TCA435297703ADCY5c.2367C>A (p.Ala789=)
c.2655C>A (p.Ala885=)
n.2093C>A
c.3765C>A (p.Ala1255=)
c.3690C>A (p.Ala1230=)
c.2640C>A (p.Ala880=)
n.460C>A
c.2664C>A (p.Ala888=)
c.2715C>A (p.Ala905=)
c.2442C>A (p.Ala814=)
c.2766C>A (p.Ala922=)
c.2676C>A (p.Ala892=)
c.2667C>A (p.Ala889=)
3g.123284705G>ACA354222114ADCY5c.2366C>T (p.Ala789Val)
c.2654C>T (p.Ala885Val)
n.2092C>T
c.3764C>T (p.Ala1255Val)
c.3689C>T (p.Ala1230Val)
c.2639C>T (p.Ala880Val)
n.459C>T
c.2663C>T (p.Ala888Val)
c.2714C>T (p.Ala905Val)
c.2441C>T (p.Ala814Val)
c.2765C>T (p.Ala922Val)
c.2675C>T (p.Ala892Val)
c.2666C>T (p.Ala889Val)
3g.123284705G>CCA354222115ADCY5c.2366C>G (p.Ala789Gly)
c.2654C>G (p.Ala885Gly)
n.2092C>G
c.3764C>G (p.Ala1255Gly)
c.3689C>G (p.Ala1230Gly)
c.2639C>G (p.Ala880Gly)
n.459C>G
c.2663C>G (p.Ala888Gly)
c.2714C>G (p.Ala905Gly)
c.2441C>G (p.Ala814Gly)
c.2765C>G (p.Ala922Gly)
c.2675C>G (p.Ala892Gly)
c.2666C>G (p.Ala889Gly)
3g.123284705G>TCA354222116ADCY5c.2366C>A (p.Ala789Asp)
c.2654C>A (p.Ala885Asp)
n.2092C>A
c.3764C>A (p.Ala1255Asp)
c.3689C>A (p.Ala1230Asp)
c.2639C>A (p.Ala880Asp)
n.459C>A
c.2663C>A (p.Ala888Asp)
c.2714C>A (p.Ala905Asp)
c.2441C>A (p.Ala814Asp)
c.2765C>A (p.Ala922Asp)
c.2675C>A (p.Ala892Asp)
c.2666C>A (p.Ala889Asp)
3g.123284706C>ACA354222117ADCY5c.2365G>T (p.Ala789Ser)
c.2653G>T (p.Ala885Ser)
n.2091G>T
c.3763G>T (p.Ala1255Ser)
c.3688G>T (p.Ala1230Ser)
c.2638G>T (p.Ala880Ser)
n.458G>T
c.2662G>T (p.Ala888Ser)
c.2713G>T (p.Ala905Ser)
c.2440G>T (p.Ala814Ser)
c.2764G>T (p.Ala922Ser)
c.2674G>T (p.Ala892Ser)
c.2665G>T (p.Ala889Ser)
3g.123284706C>GCA354222118ADCY5c.2365G>C (p.Ala789Pro)
c.2653G>C (p.Ala885Pro)
n.2091G>C
c.3763G>C (p.Ala1255Pro)
c.3688G>C (p.Ala1230Pro)
c.2638G>C (p.Ala880Pro)
n.458G>C
c.2662G>C (p.Ala888Pro)
c.2713G>C (p.Ala905Pro)
c.2440G>C (p.Ala814Pro)
c.2764G>C (p.Ala922Pro)
c.2674G>C (p.Ala892Pro)
c.2665G>C (p.Ala889Pro)
3g.123284706C>TCA354222119ADCY5c.2365G>A (p.Ala789Thr)
c.2653G>A (p.Ala885Thr)
n.2091G>A
c.3763G>A (p.Ala1255Thr)
c.3688G>A (p.Ala1230Thr)
c.2638G>A (p.Ala880Thr)
n.458G>A
c.2662G>A (p.Ala888Thr)
c.2713G>A (p.Ala905Thr)
c.2440G>A (p.Ala814Thr)
c.2764G>A (p.Ala922Thr)
c.2674G>A (p.Ala892Thr)
c.2665G>A (p.Ala889Thr)
COSMIC
3g.123284707A=CA1398327484ADCY5c.2364T= (p.Ala788=)
c.2652T= (p.Ala884=)
n.2090T=
c.3762T= (p.Ala1254=)
c.3687T= (p.Ala1229=)
c.2637T= (p.Ala879=)
n.457T=
c.2661T= (p.Ala887=)
c.2712T= (p.Ala904=)
c.2439T= (p.Ala813=)
c.2763T= (p.Ala921=)
c.2673T= (p.Ala891=)
c.2664T= (p.Ala888=)
3g.123284707A>CCA435297704ADCY5c.2364T>G (p.Ala788=)
c.2652T>G (p.Ala884=)
n.2090T>G
c.3762T>G (p.Ala1254=)
c.3687T>G (p.Ala1229=)
c.2637T>G (p.Ala879=)
n.457T>G
c.2661T>G (p.Ala887=)
c.2712T>G (p.Ala904=)
c.2439T>G (p.Ala813=)
c.2763T>G (p.Ala921=)
c.2673T>G (p.Ala891=)
c.2664T>G (p.Ala888=)
3g.123284707A>GCA82899795ADCY5c.2364T>C (p.Ala788=)
c.2652T>C (p.Ala884=)
n.2090T>C
c.3762T>C (p.Ala1254=)
c.3687T>C (p.Ala1229=)
c.2637T>C (p.Ala879=)
n.457T>C
c.2661T>C (p.Ala887=)
c.2712T>C (p.Ala904=)
c.2439T>C (p.Ala813=)
c.2763T>C (p.Ala921=)
c.2673T>C (p.Ala891=)
c.2664T>C (p.Ala888=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123284707A>TCA435297705ADCY5c.2364T>A (p.Ala788=)
c.2652T>A (p.Ala884=)
n.2090T>A
c.3762T>A (p.Ala1254=)
c.3687T>A (p.Ala1229=)
c.2637T>A (p.Ala879=)
n.457T>A
c.2661T>A (p.Ala887=)
c.2712T>A (p.Ala904=)
c.2439T>A (p.Ala813=)
c.2763T>A (p.Ala921=)
c.2673T>A (p.Ala891=)
c.2664T>A (p.Ala888=)
3g.123284708G>ACA354222121ADCY5c.2363C>T (p.Ala788Val)
c.2651C>T (p.Ala884Val)
n.2089C>T
c.3761C>T (p.Ala1254Val)
c.3686C>T (p.Ala1229Val)
c.2636C>T (p.Ala879Val)
n.456C>T
c.2660C>T (p.Ala887Val)
c.2711C>T (p.Ala904Val)
c.2438C>T (p.Ala813Val)
c.2762C>T (p.Ala921Val)
c.2672C>T (p.Ala891Val)
c.2663C>T (p.Ala888Val)
3g.123284708G>CCA354222122ADCY5c.2363C>G (p.Ala788Gly)
c.2651C>G (p.Ala884Gly)
n.2089C>G
c.3761C>G (p.Ala1254Gly)
c.3686C>G (p.Ala1229Gly)
c.2636C>G (p.Ala879Gly)
n.456C>G
c.2660C>G (p.Ala887Gly)
c.2711C>G (p.Ala904Gly)
c.2438C>G (p.Ala813Gly)
c.2762C>G (p.Ala921Gly)
c.2672C>G (p.Ala891Gly)
c.2663C>G (p.Ala888Gly)
3g.123284708G>TCA354222120ADCY5c.2363C>A (p.Ala788Asp)
c.2651C>A (p.Ala884Asp)
n.2089C>A
c.3761C>A (p.Ala1254Asp)
c.3686C>A (p.Ala1229Asp)
c.2636C>A (p.Ala879Asp)
n.456C>A
c.2660C>A (p.Ala887Asp)
c.2711C>A (p.Ala904Asp)
c.2438C>A (p.Ala813Asp)
c.2762C>A (p.Ala921Asp)
c.2672C>A (p.Ala891Asp)
c.2663C>A (p.Ala888Asp)
3g.123284709C>ACA354222123ADCY5c.2362G>T (p.Ala788Ser)
c.2650G>T (p.Ala884Ser)
n.2088G>T
c.3760G>T (p.Ala1254Ser)
c.3685G>T (p.Ala1229Ser)
c.2635G>T (p.Ala879Ser)
n.455G>T
c.2659G>T (p.Ala887Ser)
c.2710G>T (p.Ala904Ser)
c.2437G>T (p.Ala813Ser)
c.2761G>T (p.Ala921Ser)
c.2671G>T (p.Ala891Ser)
c.2662G>T (p.Ala888Ser)
3g.123284709C>GCA354222125ADCY5c.2362G>C (p.Ala788Pro)
c.2650G>C (p.Ala884Pro)
n.2088G>C
c.3760G>C (p.Ala1254Pro)
c.3685G>C (p.Ala1229Pro)
c.2635G>C (p.Ala879Pro)
n.455G>C
c.2659G>C (p.Ala887Pro)
c.2710G>C (p.Ala904Pro)
c.2437G>C (p.Ala813Pro)
c.2761G>C (p.Ala921Pro)
c.2671G>C (p.Ala891Pro)
c.2662G>C (p.Ala888Pro)
3g.123284709C>TCA354222124ADCY5c.2362G>A (p.Ala788Thr)
c.2650G>A (p.Ala884Thr)
n.2088G>A
c.3760G>A (p.Ala1254Thr)
c.3685G>A (p.Ala1229Thr)
c.2635G>A (p.Ala879Thr)
n.455G>A
c.2659G>A (p.Ala887Thr)
c.2710G>A (p.Ala904Thr)
c.2437G>A (p.Ala813Thr)
c.2761G>A (p.Ala921Thr)
c.2671G>A (p.Ala891Thr)
c.2662G>A (p.Ala888Thr)
3g.123284710C>ACA435297706ADCY5c.2361G>T (p.Leu787=)
c.2649G>T (p.Leu883=)
n.2087G>T
c.3759G>T (p.Leu1253=)
c.3684G>T (p.Leu1228=)
c.2634G>T (p.Leu878=)
n.454G>T
c.2658G>T (p.Leu886=)
c.2709G>T (p.Leu903=)
c.2436G>T (p.Leu812=)
c.2760G>T (p.Leu920=)
c.2670G>T (p.Leu890=)
c.2661G>T (p.Leu887=)
3g.123284710C=CA1398327485ADCY5c.2361G= (p.Leu787=)
c.2649G= (p.Leu883=)
n.2087G=
c.3759G= (p.Leu1253=)
c.3684G= (p.Leu1228=)
c.2634G= (p.Leu878=)
n.454G=
c.2658G= (p.Leu886=)
c.2709G= (p.Leu903=)
c.2436G= (p.Leu812=)
c.2760G= (p.Leu920=)
c.2670G= (p.Leu890=)
c.2661G= (p.Leu887=)
3g.123284710C>GCA435297707ADCY5c.2361G>C (p.Leu787=)
c.2649G>C (p.Leu883=)
n.2087G>C
c.3759G>C (p.Leu1253=)
c.3684G>C (p.Leu1228=)
c.2634G>C (p.Leu878=)
n.454G>C
c.2658G>C (p.Leu886=)
c.2709G>C (p.Leu903=)
c.2436G>C (p.Leu812=)
c.2760G>C (p.Leu920=)
c.2670G>C (p.Leu890=)
c.2661G>C (p.Leu887=)
3g.123284710C>TCA2576700ADCY5c.2361G>A (p.Leu787=)
c.2649G>A (p.Leu883=)
n.2087G>A
c.3759G>A (p.Leu1253=)
c.3684G>A (p.Leu1228=)
c.2634G>A (p.Leu878=)
n.454G>A
c.2658G>A (p.Leu886=)
c.2709G>A (p.Leu903=)
c.2436G>A (p.Leu812=)
c.2760G>A (p.Leu920=)
c.2670G>A (p.Leu890=)
c.2661G>A (p.Leu887=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284711A>CCA354222126ADCY5c.2360T>G (p.Leu787Arg)
c.2648T>G (p.Leu883Arg)
n.2086T>G
c.3758T>G (p.Leu1253Arg)
c.3683T>G (p.Leu1228Arg)
c.2633T>G (p.Leu878Arg)
n.453T>G
c.2657T>G (p.Leu886Arg)
c.2708T>G (p.Leu903Arg)
c.2435T>G (p.Leu812Arg)
c.2759T>G (p.Leu920Arg)
c.2669T>G (p.Leu890Arg)
c.2660T>G (p.Leu887Arg)
3g.123284711A>GCA354222127ADCY5c.2360T>C (p.Leu787Pro)
c.2648T>C (p.Leu883Pro)
n.2086T>C
c.3758T>C (p.Leu1253Pro)
c.3683T>C (p.Leu1228Pro)
c.2633T>C (p.Leu878Pro)
n.453T>C
c.2657T>C (p.Leu886Pro)
c.2708T>C (p.Leu903Pro)
c.2435T>C (p.Leu812Pro)
c.2759T>C (p.Leu920Pro)
c.2669T>C (p.Leu890Pro)
c.2660T>C (p.Leu887Pro)
3g.123284711A>TCA354222128ADCY5c.2360T>A (p.Leu787Gln)
c.2648T>A (p.Leu883Gln)
n.2086T>A
c.3758T>A (p.Leu1253Gln)
c.3683T>A (p.Leu1228Gln)
c.2633T>A (p.Leu878Gln)
n.453T>A
c.2657T>A (p.Leu886Gln)
c.2708T>A (p.Leu903Gln)
c.2435T>A (p.Leu812Gln)
c.2759T>A (p.Leu920Gln)
c.2669T>A (p.Leu890Gln)
c.2660T>A (p.Leu887Gln)
3g.123284712delCA2740455151ADCY5c.2359del (p.Leu787TrpfsTer22)
c.2647del (p.Leu883TrpfsTer22)
n.2085del
c.3757del (p.Leu1253TrpfsTer22)
c.3682del (p.Leu1228TrpfsTer22)
c.2632del (p.Leu878TrpfsTer22)
n.452del
c.2656del (p.Leu886TrpfsTer22)
c.2707del (p.Leu903TrpfsTer22)
c.2434del (p.Leu812TrpfsTer22)
c.2758del (p.Leu920TrpfsTer22)
c.2668del (p.Leu890TrpfsTer22)
c.2659del (p.Leu887TrpfsTer22)
3g.123284712G>ACA435297708ADCY5c.2359C>T (p.Leu787=)
c.2647C>T (p.Leu883=)
n.2085C>T
c.3757C>T (p.Leu1253=)
c.3682C>T (p.Leu1228=)
c.2632C>T (p.Leu878=)
n.452C>T
c.2656C>T (p.Leu886=)
c.2707C>T (p.Leu903=)
c.2434C>T (p.Leu812=)
c.2758C>T (p.Leu920=)
c.2668C>T (p.Leu890=)
c.2659C>T (p.Leu887=)
gnomAD v4
3g.123284712G>CCA354222129ADCY5c.2359C>G (p.Leu787Val)
c.2647C>G (p.Leu883Val)
n.2085C>G
c.3757C>G (p.Leu1253Val)
c.3682C>G (p.Leu1228Val)
c.2632C>G (p.Leu878Val)
n.452C>G
c.2656C>G (p.Leu886Val)
c.2707C>G (p.Leu903Val)
c.2434C>G (p.Leu812Val)
c.2758C>G (p.Leu920Val)
c.2668C>G (p.Leu890Val)
c.2659C>G (p.Leu887Val)
3g.123284712G>TCA354222130ADCY5c.2359C>A (p.Leu787Met)
c.2647C>A (p.Leu883Met)
n.2085C>A
c.3757C>A (p.Leu1253Met)
c.3682C>A (p.Leu1228Met)
c.2632C>A (p.Leu878Met)
n.452C>A
c.2656C>A (p.Leu886Met)
c.2707C>A (p.Leu903Met)
c.2434C>A (p.Leu812Met)
c.2758C>A (p.Leu920Met)
c.2668C>A (p.Leu890Met)
c.2659C>A (p.Leu887Met)
COSMIC
3g.123284713C>ACA435297709ADCY5c.2358G>T (p.Val786=)
c.2646G>T (p.Val882=)
n.2084G>T
c.3756G>T (p.Val1252=)
c.3681G>T (p.Val1227=)
c.2631G>T (p.Val877=)
n.451G>T
c.2655G>T (p.Val885=)
c.2706G>T (p.Val902=)
c.2433G>T (p.Val811=)
c.2757G>T (p.Val919=)
c.2667G>T (p.Val889=)
c.2658G>T (p.Val886=)
3g.123284713C>GCA435297710ADCY5c.2358G>C (p.Val786=)
c.2646G>C (p.Val882=)
n.2084G>C
c.3756G>C (p.Val1252=)
c.3681G>C (p.Val1227=)
c.2631G>C (p.Val877=)
n.451G>C
c.2655G>C (p.Val885=)
c.2706G>C (p.Val902=)
c.2433G>C (p.Val811=)
c.2757G>C (p.Val919=)
c.2667G>C (p.Val889=)
c.2658G>C (p.Val886=)
3g.123284713C>TCA435297711ADCY5c.2358G>A (p.Val786=)
c.2646G>A (p.Val882=)
n.2084G>A
c.3756G>A (p.Val1252=)
c.3681G>A (p.Val1227=)
c.2631G>A (p.Val877=)
n.451G>A
c.2655G>A (p.Val885=)
c.2706G>A (p.Val902=)
c.2433G>A (p.Val811=)
c.2757G>A (p.Val919=)
c.2667G>A (p.Val889=)
c.2658G>A (p.Val886=)
3g.123284714A>CCA354222131ADCY5c.2357T>G (p.Val786Gly)
c.2645T>G (p.Val882Gly)
n.2083T>G
c.3755T>G (p.Val1252Gly)
c.3680T>G (p.Val1227Gly)
c.2630T>G (p.Val877Gly)
n.450T>G
c.2654T>G (p.Val885Gly)
c.2705T>G (p.Val902Gly)
c.2432T>G (p.Val811Gly)
c.2756T>G (p.Val919Gly)
c.2666T>G (p.Val889Gly)
c.2657T>G (p.Val886Gly)
3g.123284714A>GCA354222132ADCY5c.2357T>C (p.Val786Ala)
c.2645T>C (p.Val882Ala)
n.2083T>C
c.3755T>C (p.Val1252Ala)
c.3680T>C (p.Val1227Ala)
c.2630T>C (p.Val877Ala)
n.450T>C
c.2654T>C (p.Val885Ala)
c.2705T>C (p.Val902Ala)
c.2432T>C (p.Val811Ala)
c.2756T>C (p.Val919Ala)
c.2666T>C (p.Val889Ala)
c.2657T>C (p.Val886Ala)
3g.123284714A>TCA354222133ADCY5c.2357T>A (p.Val786Glu)
c.2645T>A (p.Val882Glu)
n.2083T>A
c.3755T>A (p.Val1252Glu)
c.3680T>A (p.Val1227Glu)
c.2630T>A (p.Val877Glu)
n.450T>A
c.2654T>A (p.Val885Glu)
c.2705T>A (p.Val902Glu)
c.2432T>A (p.Val811Glu)
c.2756T>A (p.Val919Glu)
c.2666T>A (p.Val889Glu)
c.2657T>A (p.Val886Glu)
gnomAD v4
3g.123284715C>ACA354222134ADCY5c.2356G>T (p.Val786Leu)
c.2644G>T (p.Val882Leu)
n.2082G>T
c.3754G>T (p.Val1252Leu)
c.3679G>T (p.Val1227Leu)
c.2629G>T (p.Val877Leu)
n.449G>T
c.2653G>T (p.Val885Leu)
c.2704G>T (p.Val902Leu)
c.2431G>T (p.Val811Leu)
c.2755G>T (p.Val919Leu)
c.2665G>T (p.Val889Leu)
c.2656G>T (p.Val886Leu)
3g.123284715C>GCA354222135ADCY5c.2356G>C (p.Val786Leu)
c.2644G>C (p.Val882Leu)
n.2082G>C
c.3754G>C (p.Val1252Leu)
c.3679G>C (p.Val1227Leu)
c.2629G>C (p.Val877Leu)
n.449G>C
c.2653G>C (p.Val885Leu)
c.2704G>C (p.Val902Leu)
c.2431G>C (p.Val811Leu)
c.2755G>C (p.Val919Leu)
c.2665G>C (p.Val889Leu)
c.2656G>C (p.Val886Leu)
3g.123284715C>TCA354222136ADCY5c.2356G>A (p.Val786Met)
c.2644G>A (p.Val882Met)
n.2082G>A
c.3754G>A (p.Val1252Met)
c.3679G>A (p.Val1227Met)
c.2629G>A (p.Val877Met)
n.449G>A
c.2653G>A (p.Val885Met)
c.2704G>A (p.Val902Met)
c.2431G>A (p.Val811Met)
c.2755G>A (p.Val919Met)
c.2665G>A (p.Val889Met)
c.2656G>A (p.Val886Met)
ClinVar
3g.123284716C>ACA354222138ADCY5c.2355G>T (p.Gln785His)
c.2643G>T (p.Gln881His)
n.2081G>T
c.3753G>T (p.Gln1251His)
c.3678G>T (p.Gln1226His)
c.2628G>T (p.Gln876His)
n.448G>T
c.2652G>T (p.Gln884His)
c.2703G>T (p.Gln901His)
c.2430G>T (p.Gln810His)
c.2754G>T (p.Gln918His)
c.2664G>T (p.Gln888His)
c.2655G>T (p.Gln885His)
3g.123284716C>GCA354222137ADCY5c.2355G>C (p.Gln785His)
c.2643G>C (p.Gln881His)
n.2081G>C
c.3753G>C (p.Gln1251His)
c.3678G>C (p.Gln1226His)
c.2628G>C (p.Gln876His)
n.448G>C
c.2652G>C (p.Gln884His)
c.2703G>C (p.Gln901His)
c.2430G>C (p.Gln810His)
c.2754G>C (p.Gln918His)
c.2664G>C (p.Gln888His)
c.2655G>C (p.Gln885His)
3g.123284716C>TCA435297712ADCY5c.2355G>A (p.Gln785=)
c.2643G>A (p.Gln881=)
n.2081G>A
c.3753G>A (p.Gln1251=)
c.3678G>A (p.Gln1226=)
c.2628G>A (p.Gln876=)
n.448G>A
c.2652G>A (p.Gln884=)
c.2703G>A (p.Gln901=)
c.2430G>A (p.Gln810=)
c.2754G>A (p.Gln918=)
c.2664G>A (p.Gln888=)
c.2655G>A (p.Gln885=)
3g.123284717T>ACA354222139ADCY5c.2354A>T (p.Gln785Leu)
c.2642A>T (p.Gln881Leu)
n.2080A>T
c.3752A>T (p.Gln1251Leu)
c.3677A>T (p.Gln1226Leu)
c.2627A>T (p.Gln876Leu)
n.447A>T
c.2651A>T (p.Gln884Leu)
c.2702A>T (p.Gln901Leu)
c.2429A>T (p.Gln810Leu)
c.2753A>T (p.Gln918Leu)
c.2663A>T (p.Gln888Leu)
c.2654A>T (p.Gln885Leu)
3g.123284717T>CCA354222140ADCY5c.2354A>G (p.Gln785Arg)
c.2642A>G (p.Gln881Arg)
n.2080A>G
c.3752A>G (p.Gln1251Arg)
c.3677A>G (p.Gln1226Arg)
c.2627A>G (p.Gln876Arg)
n.447A>G
c.2651A>G (p.Gln884Arg)
c.2702A>G (p.Gln901Arg)
c.2429A>G (p.Gln810Arg)
c.2753A>G (p.Gln918Arg)
c.2663A>G (p.Gln888Arg)
c.2654A>G (p.Gln885Arg)
gnomAD v4
3g.123284717T>GCA354222141ADCY5c.2354A>C (p.Gln785Pro)
c.2642A>C (p.Gln881Pro)
n.2080A>C
c.3752A>C (p.Gln1251Pro)
c.3677A>C (p.Gln1226Pro)
c.2627A>C (p.Gln876Pro)
n.447A>C
c.2651A>C (p.Gln884Pro)
c.2702A>C (p.Gln901Pro)
c.2429A>C (p.Gln810Pro)
c.2753A>C (p.Gln918Pro)
c.2663A>C (p.Gln888Pro)
c.2654A>C (p.Gln885Pro)
3g.123284718G>ACA354222142ADCY5c.2353C>T (p.Gln785Ter)
c.2641C>T (p.Gln881Ter)
n.2079C>T
c.3751C>T (p.Gln1251Ter)
c.3676C>T (p.Gln1226Ter)
c.2626C>T (p.Gln876Ter)
n.446C>T
c.2650C>T (p.Gln884Ter)
c.2701C>T (p.Gln901Ter)
c.2428C>T (p.Gln810Ter)
c.2752C>T (p.Gln918Ter)
c.2662C>T (p.Gln888Ter)
c.2653C>T (p.Gln885Ter)
dbSNP
3g.123284718G>CCA354222143ADCY5c.2353C>G (p.Gln785Glu)
c.2641C>G (p.Gln881Glu)
n.2079C>G
c.3751C>G (p.Gln1251Glu)
c.3676C>G (p.Gln1226Glu)
c.2626C>G (p.Gln876Glu)
n.446C>G
c.2650C>G (p.Gln884Glu)
c.2701C>G (p.Gln901Glu)
c.2428C>G (p.Gln810Glu)
c.2752C>G (p.Gln918Glu)
c.2662C>G (p.Gln888Glu)
c.2653C>G (p.Gln885Glu)
3g.123284718G=CA1398327486ADCY5c.2353C= (p.Gln785=)
c.2641C= (p.Gln881=)
n.2079C=
c.3751C= (p.Gln1251=)
c.3676C= (p.Gln1226=)
c.2626C= (p.Gln876=)
n.446C=
c.2650C= (p.Gln884=)
c.2701C= (p.Gln901=)
c.2428C= (p.Gln810=)
c.2752C= (p.Gln918=)
c.2662C= (p.Gln888=)
c.2653C= (p.Gln885=)
3g.123284718G>TCA354222144ADCY5c.2353C>A (p.Gln785Lys)
c.2641C>A (p.Gln881Lys)
n.2079C>A
c.3751C>A (p.Gln1251Lys)
c.3676C>A (p.Gln1226Lys)
c.2626C>A (p.Gln876Lys)
n.446C>A
c.2650C>A (p.Gln884Lys)
c.2701C>A (p.Gln901Lys)
c.2428C>A (p.Gln810Lys)
c.2752C>A (p.Gln918Lys)
c.2662C>A (p.Gln888Lys)
c.2653C>A (p.Gln885Lys)
3g.123284719G>ACA435297713ADCY5c.2352C>T (p.Tyr784=)
c.2640C>T (p.Tyr880=)
n.2078C>T
c.3750C>T (p.Tyr1250=)
c.3675C>T (p.Tyr1225=)
c.2625C>T (p.Tyr875=)
n.445C>T
c.2649C>T (p.Tyr883=)
c.2700C>T (p.Tyr900=)
c.2427C>T (p.Tyr809=)
c.2751C>T (p.Tyr917=)
c.2661C>T (p.Tyr887=)
c.2652C>T (p.Tyr884=)
3g.123284719G>CCA354222145ADCY5c.2352C>G (p.Tyr784Ter)
c.2640C>G (p.Tyr880Ter)
n.2078C>G
c.3750C>G (p.Tyr1250Ter)
c.3675C>G (p.Tyr1225Ter)
c.2625C>G (p.Tyr875Ter)
n.445C>G
c.2649C>G (p.Tyr883Ter)
c.2700C>G (p.Tyr900Ter)
c.2427C>G (p.Tyr809Ter)
c.2751C>G (p.Tyr917Ter)
c.2661C>G (p.Tyr887Ter)
c.2652C>G (p.Tyr884Ter)
3g.123284719G>TCA354222146ADCY5c.2352C>A (p.Tyr784Ter)
c.2640C>A (p.Tyr880Ter)
n.2078C>A
c.3750C>A (p.Tyr1250Ter)
c.3675C>A (p.Tyr1225Ter)
c.2625C>A (p.Tyr875Ter)
n.445C>A
c.2649C>A (p.Tyr883Ter)
c.2700C>A (p.Tyr900Ter)
c.2427C>A (p.Tyr809Ter)
c.2751C>A (p.Tyr917Ter)
c.2661C>A (p.Tyr887Ter)
c.2652C>A (p.Tyr884Ter)
3g.123284720T>ACA354222147ADCY5c.2351A>T (p.Tyr784Phe)
c.2639A>T (p.Tyr880Phe)
n.2077A>T
c.3749A>T (p.Tyr1250Phe)
c.3674A>T (p.Tyr1225Phe)
c.2624A>T (p.Tyr875Phe)
n.444A>T
c.2648A>T (p.Tyr883Phe)
c.2699A>T (p.Tyr900Phe)
c.2426A>T (p.Tyr809Phe)
c.2750A>T (p.Tyr917Phe)
c.2660A>T (p.Tyr887Phe)
c.2651A>T (p.Tyr884Phe)
3g.123284720T>CCA354222148ADCY5c.2351A>G (p.Tyr784Cys)
c.2639A>G (p.Tyr880Cys)
n.2077A>G
c.3749A>G (p.Tyr1250Cys)
c.3674A>G (p.Tyr1225Cys)
c.2624A>G (p.Tyr875Cys)
n.444A>G
c.2648A>G (p.Tyr883Cys)
c.2699A>G (p.Tyr900Cys)
c.2426A>G (p.Tyr809Cys)
c.2750A>G (p.Tyr917Cys)
c.2660A>G (p.Tyr887Cys)
c.2651A>G (p.Tyr884Cys)
3g.123284720T>GCA354222149ADCY5c.2351A>C (p.Tyr784Ser)
c.2639A>C (p.Tyr880Ser)
n.2077A>C
c.3749A>C (p.Tyr1250Ser)
c.3674A>C (p.Tyr1225Ser)
c.2624A>C (p.Tyr875Ser)
n.444A>C
c.2648A>C (p.Tyr883Ser)
c.2699A>C (p.Tyr900Ser)
c.2426A>C (p.Tyr809Ser)
c.2750A>C (p.Tyr917Ser)
c.2660A>C (p.Tyr887Ser)
c.2651A>C (p.Tyr884Ser)
3g.123284721A>CCA354222152ADCY5c.2350T>G (p.Tyr784Asp)
c.2638T>G (p.Tyr880Asp)
n.2076T>G
c.3748T>G (p.Tyr1250Asp)
c.3673T>G (p.Tyr1225Asp)
c.2623T>G (p.Tyr875Asp)
n.443T>G
c.2647T>G (p.Tyr883Asp)
c.2698T>G (p.Tyr900Asp)
c.2425T>G (p.Tyr809Asp)
c.2749T>G (p.Tyr917Asp)
c.2659T>G (p.Tyr887Asp)
c.2650T>G (p.Tyr884Asp)
3g.123284721A>GCA354222151ADCY5c.2350T>C (p.Tyr784His)
c.2638T>C (p.Tyr880His)
n.2076T>C
c.3748T>C (p.Tyr1250His)
c.3673T>C (p.Tyr1225His)
c.2623T>C (p.Tyr875His)
n.443T>C
c.2647T>C (p.Tyr883His)
c.2698T>C (p.Tyr900His)
c.2425T>C (p.Tyr809His)
c.2749T>C (p.Tyr917His)
c.2659T>C (p.Tyr887His)
c.2650T>C (p.Tyr884His)
3g.123284721A>TCA354222150ADCY5c.2350T>A (p.Tyr784Asn)
c.2638T>A (p.Tyr880Asn)
n.2076T>A
c.3748T>A (p.Tyr1250Asn)
c.3673T>A (p.Tyr1225Asn)
c.2623T>A (p.Tyr875Asn)
n.443T>A
c.2647T>A (p.Tyr883Asn)
c.2698T>A (p.Tyr900Asn)
c.2425T>A (p.Tyr809Asn)
c.2749T>A (p.Tyr917Asn)
c.2659T>A (p.Tyr887Asn)
c.2650T>A (p.Tyr884Asn)
3g.123284722C>ACA354222153ADCY5c.2349G>T (p.Met783Ile)
c.2637G>T (p.Met879Ile)
n.2075G>T
c.3747G>T (p.Met1249Ile)
c.3672G>T (p.Met1224Ile)
c.2622G>T (p.Met874Ile)
n.442G>T
c.2646G>T (p.Met882Ile)
c.2697G>T (p.Met899Ile)
c.2424G>T (p.Met808Ile)
c.2748G>T (p.Met916Ile)
c.2658G>T (p.Met886Ile)
c.2649G>T (p.Met883Ile)
dbSNP
3g.123284722C=CA1398327487ADCY5c.2349G= (p.Met783=)
c.2637G= (p.Met879=)
n.2075G=
c.3747G= (p.Met1249=)
c.3672G= (p.Met1224=)
c.2622G= (p.Met874=)
n.442G=
c.2646G= (p.Met882=)
c.2697G= (p.Met899=)
c.2424G= (p.Met808=)
c.2748G= (p.Met916=)
c.2658G= (p.Met886=)
c.2649G= (p.Met883=)
3g.123284722C>GCA354222154ADCY5c.2349G>C (p.Met783Ile)
c.2637G>C (p.Met879Ile)
n.2075G>C
c.3747G>C (p.Met1249Ile)
c.3672G>C (p.Met1224Ile)
c.2622G>C (p.Met874Ile)
n.442G>C
c.2646G>C (p.Met882Ile)
c.2697G>C (p.Met899Ile)
c.2424G>C (p.Met808Ile)
c.2748G>C (p.Met916Ile)
c.2658G>C (p.Met886Ile)
c.2649G>C (p.Met883Ile)
gnomAD v4
3g.123284722C>TCA2576701ADCY5c.2349G>A (p.Met783Ile)
c.2637G>A (p.Met879Ile)
n.2075G>A
c.3747G>A (p.Met1249Ile)
c.3672G>A (p.Met1224Ile)
c.2622G>A (p.Met874Ile)
n.442G>A
c.2646G>A (p.Met882Ile)
c.2697G>A (p.Met899Ile)
c.2424G>A (p.Met808Ile)
c.2748G>A (p.Met916Ile)
c.2658G>A (p.Met886Ile)
c.2649G>A (p.Met883Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284723A=CA1398327488ADCY5c.2348T= (p.Met783=)
c.2636T= (p.Met879=)
n.2074T=
c.3746T= (p.Met1249=)
c.3671T= (p.Met1224=)
c.2621T= (p.Met874=)
n.441T=
c.2645T= (p.Met882=)
c.2696T= (p.Met899=)
c.2423T= (p.Met808=)
c.2747T= (p.Met916=)
c.2657T= (p.Met886=)
c.2648T= (p.Met883=)
3g.123284723A>CCA354222155ADCY5c.2348T>G (p.Met783Arg)
c.2636T>G (p.Met879Arg)
n.2074T>G
c.3746T>G (p.Met1249Arg)
c.3671T>G (p.Met1224Arg)
c.2621T>G (p.Met874Arg)
n.441T>G
c.2645T>G (p.Met882Arg)
c.2696T>G (p.Met899Arg)
c.2423T>G (p.Met808Arg)
c.2747T>G (p.Met916Arg)
c.2657T>G (p.Met886Arg)
c.2648T>G (p.Met883Arg)
3g.123284723A>GCA2576702ADCY5c.2348T>C (p.Met783Thr)
c.2636T>C (p.Met879Thr)
n.2074T>C
c.3746T>C (p.Met1249Thr)
c.3671T>C (p.Met1224Thr)
c.2621T>C (p.Met874Thr)
n.441T>C
c.2645T>C (p.Met882Thr)
c.2696T>C (p.Met899Thr)
c.2423T>C (p.Met808Thr)
c.2747T>C (p.Met916Thr)
c.2657T>C (p.Met886Thr)
c.2648T>C (p.Met883Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284723A>TCA354222156ADCY5c.2348T>A (p.Met783Lys)
c.2636T>A (p.Met879Lys)
n.2074T>A
c.3746T>A (p.Met1249Lys)
c.3671T>A (p.Met1224Lys)
c.2621T>A (p.Met874Lys)
n.441T>A
c.2645T>A (p.Met882Lys)
c.2696T>A (p.Met899Lys)
c.2423T>A (p.Met808Lys)
c.2747T>A (p.Met916Lys)
c.2657T>A (p.Met886Lys)
c.2648T>A (p.Met883Lys)
3g.123284724T>ACA354222157ADCY5c.2347A>T (p.Met783Leu)
c.2635A>T (p.Met879Leu)
n.2073A>T
c.3745A>T (p.Met1249Leu)
c.3670A>T (p.Met1224Leu)
c.2620A>T (p.Met874Leu)
n.440A>T
c.2644A>T (p.Met882Leu)
c.2695A>T (p.Met899Leu)
c.2422A>T (p.Met808Leu)
c.2746A>T (p.Met916Leu)
c.2656A>T (p.Met886Leu)
c.2647A>T (p.Met883Leu)
3g.123284724T>CCA354222158ADCY5c.2347A>G (p.Met783Val)
c.2635A>G (p.Met879Val)
n.2073A>G
c.3745A>G (p.Met1249Val)
c.3670A>G (p.Met1224Val)
c.2620A>G (p.Met874Val)
n.440A>G
c.2644A>G (p.Met882Val)
c.2695A>G (p.Met899Val)
c.2422A>G (p.Met808Val)
c.2746A>G (p.Met916Val)
c.2656A>G (p.Met886Val)
c.2647A>G (p.Met883Val)
gnomAD v4
3g.123284724T>GCA354222159ADCY5c.2347A>C (p.Met783Leu)
c.2635A>C (p.Met879Leu)
n.2073A>C
c.3745A>C (p.Met1249Leu)
c.3670A>C (p.Met1224Leu)
c.2620A>C (p.Met874Leu)
n.440A>C
c.2644A>C (p.Met882Leu)
c.2695A>C (p.Met899Leu)
c.2422A>C (p.Met808Leu)
c.2746A>C (p.Met916Leu)
c.2656A>C (p.Met886Leu)
c.2647A>C (p.Met883Leu)
3g.123284725G>ACA2576703ADCY5c.2346C>T (p.Asp782=)
c.2634C>T (p.Asp878=)
n.2072C>T
c.3744C>T (p.Asp1248=)
c.3669C>T (p.Asp1223=)
c.2619C>T (p.Asp873=)
n.439C>T
c.2643C>T (p.Asp881=)
c.2694C>T (p.Asp898=)
c.2421C>T (p.Asp807=)
c.2745C>T (p.Asp915=)
c.2655C>T (p.Asp885=)
c.2646C>T (p.Asp882=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284725G>CCA354222160ADCY5c.2346C>G (p.Asp782Glu)
c.2634C>G (p.Asp878Glu)
n.2072C>G
c.3744C>G (p.Asp1248Glu)
c.3669C>G (p.Asp1223Glu)
c.2619C>G (p.Asp873Glu)
n.439C>G
c.2643C>G (p.Asp881Glu)
c.2694C>G (p.Asp898Glu)
c.2421C>G (p.Asp807Glu)
c.2745C>G (p.Asp915Glu)
c.2655C>G (p.Asp885Glu)
c.2646C>G (p.Asp882Glu)
3g.123284725G=CA1398327489ADCY5c.2346C= (p.Asp782=)
c.2634C= (p.Asp878=)
n.2072C=
c.3744C= (p.Asp1248=)
c.3669C= (p.Asp1223=)
c.2619C= (p.Asp873=)
n.439C=
c.2643C= (p.Asp881=)
c.2694C= (p.Asp898=)
c.2421C= (p.Asp807=)
c.2745C= (p.Asp915=)
c.2655C= (p.Asp885=)
c.2646C= (p.Asp882=)
3g.123284725G>TCA354222161ADCY5c.2346C>A (p.Asp782Glu)
c.2634C>A (p.Asp878Glu)
n.2072C>A
c.3744C>A (p.Asp1248Glu)
c.3669C>A (p.Asp1223Glu)
c.2619C>A (p.Asp873Glu)
n.439C>A
c.2643C>A (p.Asp881Glu)
c.2694C>A (p.Asp898Glu)
c.2421C>A (p.Asp807Glu)
c.2745C>A (p.Asp915Glu)
c.2655C>A (p.Asp885Glu)
c.2646C>A (p.Asp882Glu)
3g.123284726T>ACA354222164ADCY5c.2345A>T (p.Asp782Val)
c.2633A>T (p.Asp878Val)
n.2071A>T
c.3743A>T (p.Asp1248Val)
c.3668A>T (p.Asp1223Val)
c.2618A>T (p.Asp873Val)
n.438A>T
c.2642A>T (p.Asp881Val)
c.2693A>T (p.Asp898Val)
c.2420A>T (p.Asp807Val)
c.2744A>T (p.Asp915Val)
c.2654A>T (p.Asp885Val)
c.2645A>T (p.Asp882Val)
3g.123284726T>CCA354222163ADCY5c.2345A>G (p.Asp782Gly)
c.2633A>G (p.Asp878Gly)
n.2071A>G
c.3743A>G (p.Asp1248Gly)
c.3668A>G (p.Asp1223Gly)
c.2618A>G (p.Asp873Gly)
n.438A>G
c.2642A>G (p.Asp881Gly)
c.2693A>G (p.Asp898Gly)
c.2420A>G (p.Asp807Gly)
c.2744A>G (p.Asp915Gly)
c.2654A>G (p.Asp885Gly)
c.2645A>G (p.Asp882Gly)
3g.123284726T>GCA354222162ADCY5c.2345A>C (p.Asp782Ala)
c.2633A>C (p.Asp878Ala)
n.2071A>C
c.3743A>C (p.Asp1248Ala)
c.3668A>C (p.Asp1223Ala)
c.2618A>C (p.Asp873Ala)
n.438A>C
c.2642A>C (p.Asp881Ala)
c.2693A>C (p.Asp898Ala)
c.2420A>C (p.Asp807Ala)
c.2744A>C (p.Asp915Ala)
c.2654A>C (p.Asp885Ala)
c.2645A>C (p.Asp882Ala)
3g.123284727C>ACA354222165ADCY5c.2344G>T (p.Asp782Tyr)
c.2632G>T (p.Asp878Tyr)
n.2070G>T
c.3742G>T (p.Asp1248Tyr)
c.3667G>T (p.Asp1223Tyr)
c.2617G>T (p.Asp873Tyr)
n.437G>T
c.2641G>T (p.Asp881Tyr)
c.2692G>T (p.Asp898Tyr)
c.2419G>T (p.Asp807Tyr)
c.2743G>T (p.Asp915Tyr)
c.2653G>T (p.Asp885Tyr)
c.2644G>T (p.Asp882Tyr)
3g.123284727C>GCA354222166ADCY5c.2344G>C (p.Asp782His)
c.2632G>C (p.Asp878His)
n.2070G>C
c.3742G>C (p.Asp1248His)
c.3667G>C (p.Asp1223His)
c.2617G>C (p.Asp873His)
n.437G>C
c.2641G>C (p.Asp881His)
c.2692G>C (p.Asp898His)
c.2419G>C (p.Asp807His)
c.2743G>C (p.Asp915His)
c.2653G>C (p.Asp885His)
c.2644G>C (p.Asp882His)
3g.123284727C>TCA354222167ADCY5c.2344G>A (p.Asp782Asn)
c.2632G>A (p.Asp878Asn)
n.2070G>A
c.3742G>A (p.Asp1248Asn)
c.3667G>A (p.Asp1223Asn)
c.2617G>A (p.Asp873Asn)
n.437G>A
c.2641G>A (p.Asp881Asn)
c.2692G>A (p.Asp898Asn)
c.2419G>A (p.Asp807Asn)
c.2743G>A (p.Asp915Asn)
c.2653G>A (p.Asp885Asn)
c.2644G>A (p.Asp882Asn)
3g.123284728T>ACA435297714ADCY5c.2343A>T (p.Thr781=)
c.2631A>T (p.Thr877=)
n.2069A>T
c.3741A>T (p.Thr1247=)
c.3666A>T (p.Thr1222=)
c.2616A>T (p.Thr872=)
n.436A>T
c.2640A>T (p.Thr880=)
c.2691A>T (p.Thr897=)
c.2418A>T (p.Thr806=)
c.2742A>T (p.Thr914=)
c.2652A>T (p.Thr884=)
c.2643A>T (p.Thr881=)
3g.123284728T>CCA435297715ADCY5c.2343A>G (p.Thr781=)
c.2631A>G (p.Thr877=)
n.2069A>G
c.3741A>G (p.Thr1247=)
c.3666A>G (p.Thr1222=)
c.2616A>G (p.Thr872=)
n.436A>G
c.2640A>G (p.Thr880=)
c.2691A>G (p.Thr897=)
c.2418A>G (p.Thr806=)
c.2742A>G (p.Thr914=)
c.2652A>G (p.Thr884=)
c.2643A>G (p.Thr881=)
3g.123284728T>GCA435297716ADCY5c.2343A>C (p.Thr781=)
c.2631A>C (p.Thr877=)
n.2069A>C
c.3741A>C (p.Thr1247=)
c.3666A>C (p.Thr1222=)
c.2616A>C (p.Thr872=)
n.436A>C
c.2640A>C (p.Thr880=)
c.2691A>C (p.Thr897=)
c.2418A>C (p.Thr806=)
c.2742A>C (p.Thr914=)
c.2652A>C (p.Thr884=)
c.2643A>C (p.Thr881=)
3g.123284729G>ACA354222168ADCY5c.2342C>T (p.Thr781Ile)
c.2630C>T (p.Thr877Ile)
n.2068C>T
c.3740C>T (p.Thr1247Ile)
c.3665C>T (p.Thr1222Ile)
c.2615C>T (p.Thr872Ile)
n.435C>T
c.2639C>T (p.Thr880Ile)
c.2690C>T (p.Thr897Ile)
c.2417C>T (p.Thr806Ile)
c.2741C>T (p.Thr914Ile)
c.2651C>T (p.Thr884Ile)
c.2642C>T (p.Thr881Ile)
3g.123284729G>CCA354222169ADCY5c.2342C>G (p.Thr781Arg)
c.2630C>G (p.Thr877Arg)
n.2068C>G
c.3740C>G (p.Thr1247Arg)
c.3665C>G (p.Thr1222Arg)
c.2615C>G (p.Thr872Arg)
n.435C>G
c.2639C>G (p.Thr880Arg)
c.2690C>G (p.Thr897Arg)
c.2417C>G (p.Thr806Arg)
c.2741C>G (p.Thr914Arg)
c.2651C>G (p.Thr884Arg)
c.2642C>G (p.Thr881Arg)
3g.123284729G>TCA354222170ADCY5c.2342C>A (p.Thr781Lys)
c.2630C>A (p.Thr877Lys)
n.2068C>A
c.3740C>A (p.Thr1247Lys)
c.3665C>A (p.Thr1222Lys)
c.2615C>A (p.Thr872Lys)
n.435C>A
c.2639C>A (p.Thr880Lys)
c.2690C>A (p.Thr897Lys)
c.2417C>A (p.Thr806Lys)
c.2741C>A (p.Thr914Lys)
c.2651C>A (p.Thr884Lys)
c.2642C>A (p.Thr881Lys)
3g.123284730T>ACA354222171ADCY5c.2341A>T (p.Thr781Ser)
c.2629A>T (p.Thr877Ser)
n.2067A>T
c.3739A>T (p.Thr1247Ser)
c.3664A>T (p.Thr1222Ser)
c.2614A>T (p.Thr872Ser)
n.434A>T
c.2638A>T (p.Thr880Ser)
c.2689A>T (p.Thr897Ser)
c.2416A>T (p.Thr806Ser)
c.2740A>T (p.Thr914Ser)
c.2650A>T (p.Thr884Ser)
c.2641A>T (p.Thr881Ser)
3g.123284730T>CCA354222172ADCY5c.2341A>G (p.Thr781Ala)
c.2629A>G (p.Thr877Ala)
n.2067A>G
c.3739A>G (p.Thr1247Ala)
c.3664A>G (p.Thr1222Ala)
c.2614A>G (p.Thr872Ala)
n.434A>G
c.2638A>G (p.Thr880Ala)
c.2689A>G (p.Thr897Ala)
c.2416A>G (p.Thr806Ala)
c.2740A>G (p.Thr914Ala)
c.2650A>G (p.Thr884Ala)
c.2641A>G (p.Thr881Ala)
3g.123284730T>GCA354222173ADCY5c.2341A>C (p.Thr781Pro)
c.2629A>C (p.Thr877Pro)
n.2067A>C
c.3739A>C (p.Thr1247Pro)
c.3664A>C (p.Thr1222Pro)
c.2614A>C (p.Thr872Pro)
n.434A>C
c.2638A>C (p.Thr880Pro)
c.2689A>C (p.Thr897Pro)
c.2416A>C (p.Thr806Pro)
c.2740A>C (p.Thr914Pro)
c.2650A>C (p.Thr884Pro)
c.2641A>C (p.Thr881Pro)
dbSNP
3g.123284730T=CA1398327490ADCY5c.2341A= (p.Thr781=)
c.2629A= (p.Thr877=)
n.2067A=
c.3739A= (p.Thr1247=)
c.3664A= (p.Thr1222=)
c.2614A= (p.Thr872=)
n.434A=
c.2638A= (p.Thr880=)
c.2689A= (p.Thr897=)
c.2416A= (p.Thr806=)
c.2740A= (p.Thr914=)
c.2650A= (p.Thr884=)
c.2641A= (p.Thr881=)
3g.123284731G>ACA435297717ADCY5c.2340C>T (p.Thr780=)
c.2628C>T (p.Thr876=)
n.2066C>T
c.3738C>T (p.Thr1246=)
c.3663C>T (p.Thr1221=)
c.2613C>T (p.Thr871=)
n.433C>T
c.2637C>T (p.Thr879=)
c.2688C>T (p.Thr896=)
c.2415C>T (p.Thr805=)
c.2739C>T (p.Thr913=)
c.2649C>T (p.Thr883=)
c.2640C>T (p.Thr880=)
3g.123284731G>CCA435297718ADCY5c.2340C>G (p.Thr780=)
c.2628C>G (p.Thr876=)
n.2066C>G
c.3738C>G (p.Thr1246=)
c.3663C>G (p.Thr1221=)
c.2613C>G (p.Thr871=)
n.433C>G
c.2637C>G (p.Thr879=)
c.2688C>G (p.Thr896=)
c.2415C>G (p.Thr805=)
c.2739C>G (p.Thr913=)
c.2649C>G (p.Thr883=)
c.2640C>G (p.Thr880=)
3g.123284731G>TCA435297719ADCY5c.2340C>A (p.Thr780=)
c.2628C>A (p.Thr876=)
n.2066C>A
c.3738C>A (p.Thr1246=)
c.3663C>A (p.Thr1221=)
c.2613C>A (p.Thr871=)
n.433C>A
c.2637C>A (p.Thr879=)
c.2688C>A (p.Thr896=)
c.2415C>A (p.Thr805=)
c.2739C>A (p.Thr913=)
c.2649C>A (p.Thr883=)
c.2640C>A (p.Thr880=)
3g.123284732G>ACA354222174ADCY5c.2339C>T (p.Thr780Ile)
c.2627C>T (p.Thr876Ile)
n.2065C>T
c.3737C>T (p.Thr1246Ile)
c.3662C>T (p.Thr1221Ile)
c.2612C>T (p.Thr871Ile)
n.432C>T
c.2636C>T (p.Thr879Ile)
c.2687C>T (p.Thr896Ile)
c.2414C>T (p.Thr805Ile)
c.2738C>T (p.Thr913Ile)
c.2648C>T (p.Thr883Ile)
c.2639C>T (p.Thr880Ile)
gnomAD v4
3g.123284732G>CCA2576704ADCY5c.2339C>G (p.Thr780Ser)
c.2627C>G (p.Thr876Ser)
n.2065C>G
c.3737C>G (p.Thr1246Ser)
c.3662C>G (p.Thr1221Ser)
c.2612C>G (p.Thr871Ser)
n.432C>G
c.2636C>G (p.Thr879Ser)
c.2687C>G (p.Thr896Ser)
c.2414C>G (p.Thr805Ser)
c.2738C>G (p.Thr913Ser)
c.2648C>G (p.Thr883Ser)
c.2639C>G (p.Thr880Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284732G=CA1398327491ADCY5c.2339C= (p.Thr780=)
c.2627C= (p.Thr876=)
n.2065C=
c.3737C= (p.Thr1246=)
c.3662C= (p.Thr1221=)
c.2612C= (p.Thr871=)
n.432C=
c.2636C= (p.Thr879=)
c.2687C= (p.Thr896=)
c.2414C= (p.Thr805=)
c.2738C= (p.Thr913=)
c.2648C= (p.Thr883=)
c.2639C= (p.Thr880=)
3g.123284732G>TCA354222175ADCY5c.2339C>A (p.Thr780Asn)
c.2627C>A (p.Thr876Asn)
n.2065C>A
c.3737C>A (p.Thr1246Asn)
c.3662C>A (p.Thr1221Asn)
c.2612C>A (p.Thr871Asn)
n.432C>A
c.2636C>A (p.Thr879Asn)
c.2687C>A (p.Thr896Asn)
c.2414C>A (p.Thr805Asn)
c.2738C>A (p.Thr913Asn)
c.2648C>A (p.Thr883Asn)
c.2639C>A (p.Thr880Asn)
3g.123284733T>ACA354222176ADCY5c.2338A>T (p.Thr780Ser)
c.2626A>T (p.Thr876Ser)
n.2064A>T
c.3736A>T (p.Thr1246Ser)
c.3661A>T (p.Thr1221Ser)
c.2611A>T (p.Thr871Ser)
n.431A>T
c.2635A>T (p.Thr879Ser)
c.2686A>T (p.Thr896Ser)
c.2413A>T (p.Thr805Ser)
c.2737A>T (p.Thr913Ser)
c.2647A>T (p.Thr883Ser)
c.2638A>T (p.Thr880Ser)
3g.123284733T>CCA354222178ADCY5c.2338A>G (p.Thr780Ala)
c.2626A>G (p.Thr876Ala)
n.2064A>G
c.3736A>G (p.Thr1246Ala)
c.3661A>G (p.Thr1221Ala)
c.2611A>G (p.Thr871Ala)
n.431A>G
c.2635A>G (p.Thr879Ala)
c.2686A>G (p.Thr896Ala)
c.2413A>G (p.Thr805Ala)
c.2737A>G (p.Thr913Ala)
c.2647A>G (p.Thr883Ala)
c.2638A>G (p.Thr880Ala)
3g.123284733T>GCA354222177ADCY5c.2338A>C (p.Thr780Pro)
c.2626A>C (p.Thr876Pro)
n.2064A>C
c.3736A>C (p.Thr1246Pro)
c.3661A>C (p.Thr1221Pro)
c.2611A>C (p.Thr871Pro)
n.431A>C
c.2635A>C (p.Thr879Pro)
c.2686A>C (p.Thr896Pro)
c.2413A>C (p.Thr805Pro)
c.2737A>C (p.Thr913Pro)
c.2647A>C (p.Thr883Pro)
c.2638A>C (p.Thr880Pro)
3g.123284734G>ACA435297720ADCY5c.2337C>T (p.Val779=)
c.2625C>T (p.Val875=)
n.2063C>T
c.3735C>T (p.Val1245=)
c.3660C>T (p.Val1220=)
c.2610C>T (p.Val870=)
n.430C>T
c.2634C>T (p.Val878=)
c.2685C>T (p.Val895=)
c.2412C>T (p.Val804=)
c.2736C>T (p.Val912=)
c.2646C>T (p.Val882=)
c.2637C>T (p.Val879=)
3g.123284734G>CCA435297721ADCY5c.2337C>G (p.Val779=)
c.2625C>G (p.Val875=)
n.2063C>G
c.3735C>G (p.Val1245=)
c.3660C>G (p.Val1220=)
c.2610C>G (p.Val870=)
n.430C>G
c.2634C>G (p.Val878=)
c.2685C>G (p.Val895=)
c.2412C>G (p.Val804=)
c.2736C>G (p.Val912=)
c.2646C>G (p.Val882=)
c.2637C>G (p.Val879=)
3g.123284734G>TCA435297722ADCY5c.2337C>A (p.Val779=)
c.2625C>A (p.Val875=)
n.2063C>A
c.3735C>A (p.Val1245=)
c.3660C>A (p.Val1220=)
c.2610C>A (p.Val870=)
n.430C>A
c.2634C>A (p.Val878=)
c.2685C>A (p.Val895=)
c.2412C>A (p.Val804=)
c.2736C>A (p.Val912=)
c.2646C>A (p.Val882=)
c.2637C>A (p.Val879=)
COSMIC
3g.123284735A>CCA354222179ADCY5c.2336T>G (p.Val779Gly)
c.2624T>G (p.Val875Gly)
n.2062T>G
c.3734T>G (p.Val1245Gly)
c.3659T>G (p.Val1220Gly)
c.2609T>G (p.Val870Gly)
n.429T>G
c.2633T>G (p.Val878Gly)
c.2684T>G (p.Val895Gly)
c.2411T>G (p.Val804Gly)
c.2735T>G (p.Val912Gly)
c.2645T>G (p.Val882Gly)
c.2636T>G (p.Val879Gly)
3g.123284735A>GCA354222181ADCY5c.2336T>C (p.Val779Ala)
c.2624T>C (p.Val875Ala)
n.2062T>C
c.3734T>C (p.Val1245Ala)
c.3659T>C (p.Val1220Ala)
c.2609T>C (p.Val870Ala)
n.429T>C
c.2633T>C (p.Val878Ala)
c.2684T>C (p.Val895Ala)
c.2411T>C (p.Val804Ala)
c.2735T>C (p.Val912Ala)
c.2645T>C (p.Val882Ala)
c.2636T>C (p.Val879Ala)
3g.123284735A>TCA354222180ADCY5c.2336T>A (p.Val779Asp)
c.2624T>A (p.Val875Asp)
n.2062T>A
c.3734T>A (p.Val1245Asp)
c.3659T>A (p.Val1220Asp)
c.2609T>A (p.Val870Asp)
n.429T>A
c.2633T>A (p.Val878Asp)
c.2684T>A (p.Val895Asp)
c.2411T>A (p.Val804Asp)
c.2735T>A (p.Val912Asp)
c.2645T>A (p.Val882Asp)
c.2636T>A (p.Val879Asp)
3g.123284736C>ACA354222182ADCY5c.2335G>T (p.Val779Phe)
c.2623G>T (p.Val875Phe)
n.2061G>T
c.3733G>T (p.Val1245Phe)
c.3658G>T (p.Val1220Phe)
c.2608G>T (p.Val870Phe)
n.428G>T
c.2632G>T (p.Val878Phe)
c.2683G>T (p.Val895Phe)
c.2410G>T (p.Val804Phe)
c.2734G>T (p.Val912Phe)
c.2644G>T (p.Val882Phe)
c.2635G>T (p.Val879Phe)
3g.123284736C>GCA354222184ADCY5c.2335G>C (p.Val779Leu)
c.2623G>C (p.Val875Leu)
n.2061G>C
c.3733G>C (p.Val1245Leu)
c.3658G>C (p.Val1220Leu)
c.2608G>C (p.Val870Leu)
n.428G>C
c.2632G>C (p.Val878Leu)
c.2683G>C (p.Val895Leu)
c.2410G>C (p.Val804Leu)
c.2734G>C (p.Val912Leu)
c.2644G>C (p.Val882Leu)
c.2635G>C (p.Val879Leu)
3g.123284736C>TCA354222183ADCY5c.2335G>A (p.Val779Ile)
c.2623G>A (p.Val875Ile)
n.2061G>A
c.3733G>A (p.Val1245Ile)
c.3658G>A (p.Val1220Ile)
c.2608G>A (p.Val870Ile)
n.428G>A
c.2632G>A (p.Val878Ile)
c.2683G>A (p.Val895Ile)
c.2410G>A (p.Val804Ile)
c.2734G>A (p.Val912Ile)
c.2644G>A (p.Val882Ile)
c.2635G>A (p.Val879Ile)
3g.123284737C>ACA354222185ADCY5c.2335-1G>T (n.2335-1G>T)
c.2623-1G>T (n.2623-1G>T)
n.2061-1G>T
c.3733-1G>T (n.3733-1G>T)
c.3658-1G>T (n.3658-1G>T)
c.2608-1G>T (n.2608-1G>T)
n.428-1G>T
c.2632-1G>T (n.2632-1G>T)
c.2683-1G>T (n.2683-1G>T)
c.2410-1G>T (n.2410-1G>T)
c.2734-1G>T (n.2734-1G>T)
c.2644-1G>T (n.2644-1G>T)
c.2635-1G>T (n.2635-1G>T)
dbSNP gnomAD v2 gnomAD v4
3g.123284737C=CA1398327492ADCY5c.2335-1G= (n.2335-1G=)
c.2623-1G= (n.2623-1G=)
n.2061-1G=
c.3733-1G= (n.3733-1G=)
c.3658-1G= (n.3658-1G=)
c.2608-1G= (n.2608-1G=)
n.428-1G=
c.2632-1G= (n.2632-1G=)
c.2683-1G= (n.2683-1G=)
c.2410-1G= (n.2410-1G=)
c.2734-1G= (n.2734-1G=)
c.2644-1G= (n.2644-1G=)
c.2635-1G= (n.2635-1G=)
3g.123284737C>GCA354222186ADCY5c.2335-1G>C (n.2335-1G>C)
c.2623-1G>C (n.2623-1G>C)
n.2061-1G>C
c.3733-1G>C (n.3733-1G>C)
c.3658-1G>C (n.3658-1G>C)
c.2608-1G>C (n.2608-1G>C)
n.428-1G>C
c.2632-1G>C (n.2632-1G>C)
c.2683-1G>C (n.2683-1G>C)
c.2410-1G>C (n.2410-1G>C)
c.2734-1G>C (n.2734-1G>C)
c.2644-1G>C (n.2644-1G>C)
c.2635-1G>C (n.2635-1G>C)
3g.123284737C>TCA354222187ADCY5c.2335-1G>A (n.2335-1G>A)
c.2623-1G>A (n.2623-1G>A)
n.2061-1G>A
c.3733-1G>A (n.3733-1G>A)
c.3658-1G>A (n.3658-1G>A)
c.2608-1G>A (n.2608-1G>A)
n.428-1G>A
c.2632-1G>A (n.2632-1G>A)
c.2683-1G>A (n.2683-1G>A)
c.2410-1G>A (n.2410-1G>A)
c.2734-1G>A (n.2734-1G>A)
c.2644-1G>A (n.2644-1G>A)
c.2635-1G>A (n.2635-1G>A)
3g.123284738T>ACA354222188ADCY5c.2335-2A>T (n.2335-2A>T)
c.2623-2A>T (n.2623-2A>T)
n.2061-2A>T
c.3733-2A>T (n.3733-2A>T)
c.3658-2A>T (n.3658-2A>T)
c.2608-2A>T (n.2608-2A>T)
n.428-2A>T
c.2632-2A>T (n.2632-2A>T)
c.2683-2A>T (n.2683-2A>T)
c.2410-2A>T (n.2410-2A>T)
c.2734-2A>T (n.2734-2A>T)
c.2644-2A>T (n.2644-2A>T)
c.2635-2A>T (n.2635-2A>T)
3g.123284738T>CCA354222189ADCY5c.2335-2A>G (n.2335-2A>G)
c.2623-2A>G (n.2623-2A>G)
n.2061-2A>G
c.3733-2A>G (n.3733-2A>G)
c.3658-2A>G (n.3658-2A>G)
c.2608-2A>G (n.2608-2A>G)
n.428-2A>G
c.2632-2A>G (n.2632-2A>G)
c.2683-2A>G (n.2683-2A>G)
c.2410-2A>G (n.2410-2A>G)
c.2734-2A>G (n.2734-2A>G)
c.2644-2A>G (n.2644-2A>G)
c.2635-2A>G (n.2635-2A>G)
3g.123284738T>GCA354222190ADCY5c.2335-2A>C (n.2335-2A>C)
c.2623-2A>C (n.2623-2A>C)
n.2061-2A>C
c.3733-2A>C (n.3733-2A>C)
c.3658-2A>C (n.3658-2A>C)
c.2608-2A>C (n.2608-2A>C)
n.428-2A>C
c.2632-2A>C (n.2632-2A>C)
c.2683-2A>C (n.2683-2A>C)
c.2410-2A>C (n.2410-2A>C)
c.2734-2A>C (n.2734-2A>C)
c.2644-2A>C (n.2644-2A>C)
c.2635-2A>C (n.2635-2A>C)
3g.123284739G>ACA545690217ADCY5c.2335-3C>T (n.2335-3C>T)
c.2623-3C>T (n.2623-3C>T)
n.2061-3C>T
c.3733-3C>T (n.3733-3C>T)
c.3658-3C>T (n.3658-3C>T)
c.2608-3C>T (n.2608-3C>T)
n.428-3C>T
c.2632-3C>T (n.2632-3C>T)
c.2683-3C>T (n.2683-3C>T)
c.2410-3C>T (n.2410-3C>T)
c.2734-3C>T (n.2734-3C>T)
c.2644-3C>T (n.2644-3C>T)
c.2635-3C>T (n.2635-3C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.123284739G=CA1398327493ADCY5c.2335-3C= (n.2335-3C=)
c.2623-3C= (n.2623-3C=)
n.2061-3C=
c.3733-3C= (n.3733-3C=)
c.3658-3C= (n.3658-3C=)
c.2608-3C= (n.2608-3C=)
n.428-3C=
c.2632-3C= (n.2632-3C=)
c.2683-3C= (n.2683-3C=)
c.2410-3C= (n.2410-3C=)
c.2734-3C= (n.2734-3C=)
c.2644-3C= (n.2644-3C=)
c.2635-3C= (n.2635-3C=)
3g.123284740T>GCA2740455152ADCY5c.2335-4A>C (n.2335-4A>C)
c.2623-4A>C (n.2623-4A>C)
n.2061-4A>C
c.3733-4A>C (n.3733-4A>C)
c.3658-4A>C (n.3658-4A>C)
c.2608-4A>C (n.2608-4A>C)
n.428-4A>C
c.2632-4A>C (n.2632-4A>C)
c.2683-4A>C (n.2683-4A>C)
c.2410-4A>C (n.2410-4A>C)
c.2734-4A>C (n.2734-4A>C)
c.2644-4A>C (n.2644-4A>C)
c.2635-4A>C (n.2635-4A>C)
3g.123284741G>ACA2667292295ADCY5c.2335-5C>T (n.2335-5C>T)
c.2623-5C>T (n.2623-5C>T)
n.2061-5C>T
c.3733-5C>T (n.3733-5C>T)
c.3658-5C>T (n.3658-5C>T)
c.2608-5C>T (n.2608-5C>T)
n.428-5C>T
c.2632-5C>T (n.2632-5C>T)
c.2683-5C>T (n.2683-5C>T)
c.2410-5C>T (n.2410-5C>T)
c.2734-5C>T (n.2734-5C>T)
c.2644-5C>T (n.2644-5C>T)
c.2635-5C>T (n.2635-5C>T)
gnomAD v4
3g.123284745dupCA2667292294ADCY5c.2335-5dup (n.2335-5dup)
c.2623-5dup (n.2623-5dup)
n.2061-5dup
c.3733-5dup (n.3733-5dup)
c.3658-5dup (n.3658-5dup)
c.2608-5dup (n.2608-5dup)
n.428-5dup
c.2632-5dup (n.2632-5dup)
c.2683-5dup (n.2683-5dup)
c.2410-5dup (n.2410-5dup)
c.2734-5dup (n.2734-5dup)
c.2644-5dup (n.2644-5dup)
c.2635-5dup (n.2635-5dup)
gnomAD v4
3g.123284742G>TCA2758205414ADCY5c.2335-6C>A (n.2335-6C>A)
c.2623-6C>A (n.2623-6C>A)
n.2061-6C>A
c.3733-6C>A (n.3733-6C>A)
c.3658-6C>A (n.3658-6C>A)
c.2608-6C>A (n.2608-6C>A)
n.428-6C>A
c.2632-6C>A (n.2632-6C>A)
c.2683-6C>A (n.2683-6C>A)
c.2410-6C>A (n.2410-6C>A)
c.2734-6C>A (n.2734-6C>A)
c.2644-6C>A (n.2644-6C>A)
c.2635-6C>A (n.2635-6C>A)
3g.123284743G>ACA2667292305ADCY5c.2335-7C>T (n.2335-7C>T)
c.2623-7C>T (n.2623-7C>T)
n.2061-7C>T
c.3733-7C>T (n.3733-7C>T)
c.3658-7C>T (n.3658-7C>T)
c.2608-7C>T (n.2608-7C>T)
n.428-7C>T
c.2632-7C>T (n.2632-7C>T)
c.2683-7C>T (n.2683-7C>T)
c.2410-7C>T (n.2410-7C>T)
c.2734-7C>T (n.2734-7C>T)
c.2644-7C>T (n.2644-7C>T)
c.2635-7C>T (n.2635-7C>T)
gnomAD v4
3g.123284743G>CCA2667292307ADCY5c.2335-7C>G (n.2335-7C>G)
c.2623-7C>G (n.2623-7C>G)
n.2061-7C>G
c.3733-7C>G (n.3733-7C>G)
c.3658-7C>G (n.3658-7C>G)
c.2608-7C>G (n.2608-7C>G)
n.428-7C>G
c.2632-7C>G (n.2632-7C>G)
c.2683-7C>G (n.2683-7C>G)
c.2410-7C>G (n.2410-7C>G)
c.2734-7C>G (n.2734-7C>G)
c.2644-7C>G (n.2644-7C>G)
c.2635-7C>G (n.2635-7C>G)
gnomAD v4
3g.123284744G=CA1398327494ADCY5c.2335-8C= (n.2335-8C=)
c.2623-8C= (n.2623-8C=)
n.2061-8C=
c.3733-8C= (n.3733-8C=)
c.3658-8C= (n.3658-8C=)
c.2608-8C= (n.2608-8C=)
n.428-8C=
c.2632-8C= (n.2632-8C=)
c.2683-8C= (n.2683-8C=)
c.2410-8C= (n.2410-8C=)
c.2734-8C= (n.2734-8C=)
c.2644-8C= (n.2644-8C=)
c.2635-8C= (n.2635-8C=)
3g.123284744G>TCA2576705ADCY5c.2335-8C>A (n.2335-8C>A)
c.2623-8C>A (n.2623-8C>A)
n.2061-8C>A
c.3733-8C>A (n.3733-8C>A)
c.3658-8C>A (n.3658-8C>A)
c.2608-8C>A (n.2608-8C>A)
n.428-8C>A
c.2632-8C>A (n.2632-8C>A)
c.2683-8C>A (n.2683-8C>A)
c.2410-8C>A (n.2410-8C>A)
c.2734-8C>A (n.2734-8C>A)
c.2644-8C>A (n.2644-8C>A)
c.2635-8C>A (n.2635-8C>A)
dbSNP ExAC gnomAD v2
3g.123284745G>ACA2667292315ADCY5c.2335-9C>T (n.2335-9C>T)
c.2623-9C>T (n.2623-9C>T)
n.2061-9C>T
c.3733-9C>T (n.3733-9C>T)
c.3658-9C>T (n.3658-9C>T)
c.2608-9C>T (n.2608-9C>T)
n.428-9C>T
c.2632-9C>T (n.2632-9C>T)
c.2683-9C>T (n.2683-9C>T)
c.2410-9C>T (n.2410-9C>T)
c.2734-9C>T (n.2734-9C>T)
c.2644-9C>T (n.2644-9C>T)
c.2635-9C>T (n.2635-9C>T)
gnomAD v4
3g.123284745G=CA1398327495ADCY5c.2335-9C= (n.2335-9C=)
c.2623-9C= (n.2623-9C=)
n.2061-9C=
c.3733-9C= (n.3733-9C=)
c.3658-9C= (n.3658-9C=)
c.2608-9C= (n.2608-9C=)
n.428-9C=
c.2632-9C= (n.2632-9C=)
c.2683-9C= (n.2683-9C=)
c.2410-9C= (n.2410-9C=)
c.2734-9C= (n.2734-9C=)
c.2644-9C= (n.2644-9C=)
c.2635-9C= (n.2635-9C=)
3g.123284745G>TCA2576706ADCY5c.2335-9C>A (n.2335-9C>A)
c.2623-9C>A (n.2623-9C>A)
n.2061-9C>A
c.3733-9C>A (n.3733-9C>A)
c.3658-9C>A (n.3658-9C>A)
c.2608-9C>A (n.2608-9C>A)
n.428-9C>A
c.2632-9C>A (n.2632-9C>A)
c.2683-9C>A (n.2683-9C>A)
c.2410-9C>A (n.2410-9C>A)
c.2734-9C>A (n.2734-9C>A)
c.2644-9C>A (n.2644-9C>A)
c.2635-9C>A (n.2635-9C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284748C>ACA82899812ADCY5c.2335-12G>T (n.2335-12G>T)
c.2623-12G>T (n.2623-12G>T)
n.2061-12G>T
c.3733-12G>T (n.3733-12G>T)
c.3658-12G>T (n.3658-12G>T)
c.2608-12G>T (n.2608-12G>T)
n.428-12G>T
c.2632-12G>T (n.2632-12G>T)
c.2683-12G>T (n.2683-12G>T)
c.2410-12G>T (n.2410-12G>T)
c.2734-12G>T (n.2734-12G>T)
c.2644-12G>T (n.2644-12G>T)
c.2635-12G>T (n.2635-12G>T)
dbSNP gnomAD v2 gnomAD v4
3g.123284748C=CA1398327497ADCY5c.2335-12G= (n.2335-12G=)
c.2623-12G= (n.2623-12G=)
n.2061-12G=
c.3733-12G= (n.3733-12G=)
c.3658-12G= (n.3658-12G=)
c.2608-12G= (n.2608-12G=)
n.428-12G=
c.2632-12G= (n.2632-12G=)
c.2683-12G= (n.2683-12G=)
c.2410-12G= (n.2410-12G=)
c.2734-12G= (n.2734-12G=)
c.2644-12G= (n.2644-12G=)
c.2635-12G= (n.2635-12G=)
3g.123284748C>GCA2667292323ADCY5c.2335-12G>C (n.2335-12G>C)
c.2623-12G>C (n.2623-12G>C)
n.2061-12G>C
c.3733-12G>C (n.3733-12G>C)
c.3658-12G>C (n.3658-12G>C)
c.2608-12G>C (n.2608-12G>C)
n.428-12G>C
c.2632-12G>C (n.2632-12G>C)
c.2683-12G>C (n.2683-12G>C)
c.2410-12G>C (n.2410-12G>C)
c.2734-12G>C (n.2734-12G>C)
c.2644-12G>C (n.2644-12G>C)
c.2635-12G>C (n.2635-12G>C)
gnomAD v4
3g.123284748C>TCA1398327498ADCY5c.2335-12G>A (n.2335-12G>A)
c.2623-12G>A (n.2623-12G>A)
n.2061-12G>A
c.3733-12G>A (n.3733-12G>A)
c.3658-12G>A (n.3658-12G>A)
c.2608-12G>A (n.2608-12G>A)
n.428-12G>A
c.2632-12G>A (n.2632-12G>A)
c.2683-12G>A (n.2683-12G>A)
c.2410-12G>A (n.2410-12G>A)
c.2734-12G>A (n.2734-12G>A)
c.2644-12G>A (n.2644-12G>A)
c.2635-12G>A (n.2635-12G>A)
dbSNP gnomAD v4
3g.123284748_123284751delinsCAGGCA1398327496ADCY5c.2335-15_2335-12delinsCCTG (n.2335-15_2335-12delinsCCTG)
c.2623-15_2623-12delinsCCTG (n.2623-15_2623-12delinsCCTG)
n.2061-15_2061-12delinsCCTG
c.3733-15_3733-12delinsCCTG (n.3733-15_3733-12delinsCCTG)
c.3658-15_3658-12delinsCCTG (n.3658-15_3658-12delinsCCTG)
c.2608-15_2608-12delinsCCTG (n.2608-15_2608-12delinsCCTG)
n.428-15_428-12delinsCCTG
c.2632-15_2632-12delinsCCTG (n.2632-15_2632-12delinsCCTG)
c.2683-15_2683-12delinsCCTG (n.2683-15_2683-12delinsCCTG)
c.2410-15_2410-12delinsCCTG (n.2410-15_2410-12delinsCCTG)
c.2734-15_2734-12delinsCCTG (n.2734-15_2734-12delinsCCTG)
c.2644-15_2644-12delinsCCTG (n.2644-15_2644-12delinsCCTG)
c.2635-15_2635-12delinsCCTG (n.2635-15_2635-12delinsCCTG)
3g.123284749A>TCA2667292332ADCY5c.2335-13T>A (n.2335-13T>A)
c.2623-13T>A (n.2623-13T>A)
n.2061-13T>A
c.3733-13T>A (n.3733-13T>A)
c.3658-13T>A (n.3658-13T>A)
c.2608-13T>A (n.2608-13T>A)
n.428-13T>A
c.2632-13T>A (n.2632-13T>A)
c.2683-13T>A (n.2683-13T>A)
c.2410-13T>A (n.2410-13T>A)
c.2734-13T>A (n.2734-13T>A)
c.2644-13T>A (n.2644-13T>A)
c.2635-13T>A (n.2635-13T>A)
gnomAD v4
3g.123284754_123284756delCA2576707ADCY5c.2335-15_2335-13del (n.2335-15_2335-13del)
c.2623-15_2623-13del (n.2623-15_2623-13del)
n.2061-15_2061-13del
c.3733-15_3733-13del (n.3733-15_3733-13del)
c.3658-15_3658-13del (n.3658-15_3658-13del)
c.2608-15_2608-13del (n.2608-15_2608-13del)
n.428-15_428-13del
c.2632-15_2632-13del (n.2632-15_2632-13del)
c.2683-15_2683-13del (n.2683-15_2683-13del)
c.2410-15_2410-13del (n.2410-15_2410-13del)
c.2734-15_2734-13del (n.2734-15_2734-13del)
c.2644-15_2644-13del (n.2644-15_2644-13del)
c.2635-15_2635-13del (n.2635-15_2635-13del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284750G>ACA2576709ADCY5c.2335-14C>T (n.2335-14C>T)
c.2623-14C>T (n.2623-14C>T)
n.2061-14C>T
c.3733-14C>T (n.3733-14C>T)
c.3658-14C>T (n.3658-14C>T)
c.2608-14C>T (n.2608-14C>T)
n.428-14C>T
c.2632-14C>T (n.2632-14C>T)
c.2683-14C>T (n.2683-14C>T)
c.2410-14C>T (n.2410-14C>T)
c.2734-14C>T (n.2734-14C>T)
c.2644-14C>T (n.2644-14C>T)
c.2635-14C>T (n.2635-14C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284750G=CA1398327500ADCY5c.2335-14C= (n.2335-14C=)
c.2623-14C= (n.2623-14C=)
n.2061-14C=
c.3733-14C= (n.3733-14C=)
c.3658-14C= (n.3658-14C=)
c.2608-14C= (n.2608-14C=)
n.428-14C=
c.2632-14C= (n.2632-14C=)
c.2683-14C= (n.2683-14C=)
c.2410-14C= (n.2410-14C=)
c.2734-14C= (n.2734-14C=)
c.2644-14C= (n.2644-14C=)
c.2635-14C= (n.2635-14C=)
3g.123284750_123284755delinsGGAGGACA1398327499ADCY5c.2335-19_2335-14delinsTCCTCC (n.2335-19_2335-14delinsTCCTCC)
c.2623-19_2623-14delinsTCCTCC (n.2623-19_2623-14delinsTCCTCC)
n.2061-19_2061-14delinsTCCTCC
c.3733-19_3733-14delinsTCCTCC (n.3733-19_3733-14delinsTCCTCC)
c.3658-19_3658-14delinsTCCTCC (n.3658-19_3658-14delinsTCCTCC)
c.2608-19_2608-14delinsTCCTCC (n.2608-19_2608-14delinsTCCTCC)
n.428-19_428-14delinsTCCTCC
c.2632-19_2632-14delinsTCCTCC (n.2632-19_2632-14delinsTCCTCC)
c.2683-19_2683-14delinsTCCTCC (n.2683-19_2683-14delinsTCCTCC)
c.2410-19_2410-14delinsTCCTCC (n.2410-19_2410-14delinsTCCTCC)
c.2734-19_2734-14delinsTCCTCC (n.2734-19_2734-14delinsTCCTCC)
c.2644-19_2644-14delinsTCCTCC (n.2644-19_2644-14delinsTCCTCC)
c.2635-19_2635-14delinsTCCTCC (n.2635-19_2635-14delinsTCCTCC)
3g.123284751G>ACA2667292342ADCY5c.2335-15C>T (n.2335-15C>T)
c.2623-15C>T (n.2623-15C>T)
n.2061-15C>T
c.3733-15C>T (n.3733-15C>T)
c.3658-15C>T (n.3658-15C>T)
c.2608-15C>T (n.2608-15C>T)
n.428-15C>T
c.2632-15C>T (n.2632-15C>T)
c.2683-15C>T (n.2683-15C>T)
c.2410-15C>T (n.2410-15C>T)
c.2734-15C>T (n.2734-15C>T)
c.2644-15C>T (n.2644-15C>T)
c.2635-15C>T (n.2635-15C>T)
gnomAD v4
3g.123284754_123284758delCA2576708ADCY5c.2335-19_2335-15del (n.2335-19_2335-15del)
c.2623-19_2623-15del (n.2623-19_2623-15del)
n.2061-19_2061-15del
c.3733-19_3733-15del (n.3733-19_3733-15del)
c.3658-19_3658-15del (n.3658-19_3658-15del)
c.2608-19_2608-15del (n.2608-19_2608-15del)
n.428-19_428-15del
c.2632-19_2632-15del (n.2632-19_2632-15del)
c.2683-19_2683-15del (n.2683-19_2683-15del)
c.2410-19_2410-15del (n.2410-19_2410-15del)
c.2734-19_2734-15del (n.2734-19_2734-15del)
c.2644-19_2644-15del (n.2644-19_2644-15del)
c.2635-19_2635-15del (n.2635-19_2635-15del)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284752A=CA1398327501ADCY5c.2335-16T= (n.2335-16T=)
c.2623-16T= (n.2623-16T=)
n.2061-16T=
c.3733-16T= (n.3733-16T=)
c.3658-16T= (n.3658-16T=)
c.2608-16T= (n.2608-16T=)
n.428-16T=
c.2632-16T= (n.2632-16T=)
c.2683-16T= (n.2683-16T=)
c.2410-16T= (n.2410-16T=)
c.2734-16T= (n.2734-16T=)
c.2644-16T= (n.2644-16T=)
c.2635-16T= (n.2635-16T=)
3g.123284752A>TCA2576710ADCY5c.2335-16T>A (n.2335-16T>A)
c.2623-16T>A (n.2623-16T>A)
n.2061-16T>A
c.3733-16T>A (n.3733-16T>A)
c.3658-16T>A (n.3658-16T>A)
c.2608-16T>A (n.2608-16T>A)
n.428-16T>A
c.2632-16T>A (n.2632-16T>A)
c.2683-16T>A (n.2683-16T>A)
c.2410-16T>A (n.2410-16T>A)
c.2734-16T>A (n.2734-16T>A)
c.2644-16T>A (n.2644-16T>A)
c.2635-16T>A (n.2635-16T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123284753_123284755delinsGGACA1398327502ADCY5c.2335-19_2335-17delinsTCC (n.2335-19_2335-17delinsTCC)
c.2623-19_2623-17delinsTCC (n.2623-19_2623-17delinsTCC)
n.2061-19_2061-17delinsTCC
c.3733-19_3733-17delinsTCC (n.3733-19_3733-17delinsTCC)
c.3658-19_3658-17delinsTCC (n.3658-19_3658-17delinsTCC)
c.2608-19_2608-17delinsTCC (n.2608-19_2608-17delinsTCC)
n.428-19_428-17delinsTCC
c.2632-19_2632-17delinsTCC (n.2632-19_2632-17delinsTCC)
c.2683-19_2683-17delinsTCC (n.2683-19_2683-17delinsTCC)
c.2410-19_2410-17delinsTCC (n.2410-19_2410-17delinsTCC)
c.2734-19_2734-17delinsTCC (n.2734-19_2734-17delinsTCC)
c.2644-19_2644-17delinsTCC (n.2644-19_2644-17delinsTCC)
c.2635-19_2635-17delinsTCC (n.2635-19_2635-17delinsTCC)
3g.123284754G>ACA898155577ADCY5c.2335-18C>T (n.2335-18C>T)
c.2623-18C>T (n.2623-18C>T)
n.2061-18C>T
c.3733-18C>T (n.3733-18C>T)
c.3658-18C>T (n.3658-18C>T)
c.2608-18C>T (n.2608-18C>T)
n.428-18C>T
c.2632-18C>T (n.2632-18C>T)
c.2683-18C>T (n.2683-18C>T)
c.2410-18C>T (n.2410-18C>T)
c.2734-18C>T (n.2734-18C>T)
c.2644-18C>T (n.2644-18C>T)
c.2635-18C>T (n.2635-18C>T)
ClinVar dbSNP
3g.123284754G=CA1398327503ADCY5c.2335-18C= (n.2335-18C=)
c.2623-18C= (n.2623-18C=)
n.2061-18C=
c.3733-18C= (n.3733-18C=)
c.3658-18C= (n.3658-18C=)
c.2608-18C= (n.2608-18C=)
n.428-18C=
c.2632-18C= (n.2632-18C=)
c.2683-18C= (n.2683-18C=)
c.2410-18C= (n.2410-18C=)
c.2734-18C= (n.2734-18C=)
c.2644-18C= (n.2644-18C=)
c.2635-18C= (n.2635-18C=)
3g.123284759_123284760dupCA2667292360ADCY5c.2335-19_2335-18dup (n.2335-19_2335-18dup)
c.2623-19_2623-18dup (n.2623-19_2623-18dup)
n.2061-19_2061-18dup
c.3733-19_3733-18dup (n.3733-19_3733-18dup)
c.3658-19_3658-18dup (n.3658-19_3658-18dup)
c.2608-19_2608-18dup (n.2608-19_2608-18dup)
n.428-19_428-18dup
c.2632-19_2632-18dup (n.2632-19_2632-18dup)
c.2683-19_2683-18dup (n.2683-19_2683-18dup)
c.2410-19_2410-18dup (n.2410-19_2410-18dup)
c.2734-19_2734-18dup (n.2734-19_2734-18dup)
c.2644-19_2644-18dup (n.2644-19_2644-18dup)
c.2635-19_2635-18dup (n.2635-19_2635-18dup)
gnomAD v4
3g.123284759_123284760delCA545690226ADCY5c.2335-19_2335-18del (n.2335-19_2335-18del)
c.2623-19_2623-18del (n.2623-19_2623-18del)
n.2061-19_2061-18del
c.3733-19_3733-18del (n.3733-19_3733-18del)
c.3658-19_3658-18del (n.3658-19_3658-18del)
c.2608-19_2608-18del (n.2608-19_2608-18del)
n.428-19_428-18del
c.2632-19_2632-18del (n.2632-19_2632-18del)
c.2683-19_2683-18del (n.2683-19_2683-18del)
c.2410-19_2410-18del (n.2410-19_2410-18del)
c.2734-19_2734-18del (n.2734-19_2734-18del)
c.2644-19_2644-18del (n.2644-19_2644-18del)
c.2635-19_2635-18del (n.2635-19_2635-18del)
dbSNP gnomAD v2 gnomAD v4
3g.123284755A=CA1398327504ADCY5c.2335-19T= (n.2335-19T=)
c.2623-19T= (n.2623-19T=)
n.2061-19T=
c.3733-19T= (n.3733-19T=)
c.3658-19T= (n.3658-19T=)
c.2608-19T= (n.2608-19T=)
n.428-19T=
c.2632-19T= (n.2632-19T=)
c.2683-19T= (n.2683-19T=)
c.2410-19T= (n.2410-19T=)
c.2734-19T= (n.2734-19T=)
c.2644-19T= (n.2644-19T=)
c.2635-19T= (n.2635-19T=)
3g.123284755A>GCA2576711ADCY5c.2335-19T>C (n.2335-19T>C)
c.2623-19T>C (n.2623-19T>C)
n.2061-19T>C
c.3733-19T>C (n.3733-19T>C)
c.3658-19T>C (n.3658-19T>C)
c.2608-19T>C (n.2608-19T>C)
n.428-19T>C
c.2632-19T>C (n.2632-19T>C)
c.2683-19T>C (n.2683-19T>C)
c.2410-19T>C (n.2410-19T>C)
c.2734-19T>C (n.2734-19T>C)
c.2644-19T>C (n.2644-19T>C)
c.2635-19T>C (n.2635-19T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123284756G>ACA2576712ADCY5c.2335-20C>T (n.2335-20C>T)
c.2623-20C>T (n.2623-20C>T)
n.2061-20C>T
c.3733-20C>T (n.3733-20C>T)
c.3658-20C>T (n.3658-20C>T)
c.2608-20C>T (n.2608-20C>T)
n.428-20C>T
c.2632-20C>T (n.2632-20C>T)
c.2683-20C>T (n.2683-20C>T)
c.2410-20C>T (n.2410-20C>T)
c.2734-20C>T (n.2734-20C>T)
c.2644-20C>T (n.2644-20C>T)
c.2635-20C>T (n.2635-20C>T)
dbSNP ExAC gnomAD v4
3g.123284756G=CA1398327505ADCY5c.2335-20C= (n.2335-20C=)
c.2623-20C= (n.2623-20C=)
n.2061-20C=
c.3733-20C= (n.3733-20C=)
c.3658-20C= (n.3658-20C=)
c.2608-20C= (n.2608-20C=)
n.428-20C=
c.2632-20C= (n.2632-20C=)
c.2683-20C= (n.2683-20C=)
c.2410-20C= (n.2410-20C=)
c.2734-20C= (n.2734-20C=)
c.2644-20C= (n.2644-20C=)
c.2635-20C= (n.2635-20C=)

Number of alleles fetched