Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.123284658T>A | CA354221933 | ADCY5 | c.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 |
3 | g.123284658T>C | CA354221935 | ADCY5 | c.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 |
3 | g.123284658T>G | CA354221937 | ADCY5 | c.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) | |
3 | g.123284658T= | CA1398327462 | ADCY5 | c.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=) | |
3 | g.123284659G>A | CA82899766 | ADCY5 | c.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 |
3 | g.123284659G>C | CA435297673 | ADCY5 | c.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=) | |
3 | g.123284659G= | CA1398327463 | ADCY5 | c.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=) | |
3 | g.123284659G>T | CA435297674 | ADCY5 | c.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 |
3 | g.123284660C>A | CA354221946 | ADCY5 | c.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) | |
3 | g.123284660C>G | CA354221944 | ADCY5 | c.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) | |
3 | g.123284660C>T | CA354221941 | ADCY5 | c.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) | |
3 | g.123284660_123284666delinsCCCTTGA | CA1398327464 | ADCY5 | c.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=) | |
3 | g.123284661C>A | CA354221948 | ADCY5 | c.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) | |
3 | g.123284661C>G | CA354221950 | ADCY5 | c.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) | |
3 | g.123284661C>T | CA354221952 | ADCY5 | c.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) | |
3 | g.123284669_123284674del | CA545690191 | ADCY5 | c.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 |
3 | g.123284662C>A | CA354221954 | ADCY5 | c.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) | |
3 | g.123284662C= | CA1398327465 | ADCY5 | c.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=) | |
3 | g.123284662C>G | CA354221956 | ADCY5 | c.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) | |
3 | g.123284662C>T | CA435297675 | ADCY5 | c.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 |
3 | g.123284663T>A | CA354221958 | ADCY5 | c.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) | |
3 | g.123284663T>C | CA354221960 | ADCY5 | c.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) | |
3 | g.123284663T>G | CA354221962 | ADCY5 | c.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) | |
3 | g.123284664T>A | CA354221964 | ADCY5 | c.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 |
3 | g.123284664T>C | CA354221966 | ADCY5 | c.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) | |
3 | g.123284664T>G | CA354221968 | ADCY5 | c.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) | |
3 | g.123284664T= | CA1398327466 | ADCY5 | c.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=) | |
3 | g.123284665G>A | CA435297676 | ADCY5 | c.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 |
3 | g.123284665G>C | CA435297677 | ADCY5 | c.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=) | |
3 | g.123284665G= | CA1398327467 | ADCY5 | c.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=) | |
3 | g.123284665G>T | CA435297678 | ADCY5 | c.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 |
3 | g.123284666A>C | CA354221970 | ADCY5 | c.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) | |
3 | g.123284666A>G | CA354221972 | ADCY5 | c.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) | |
3 | g.123284666A>T | CA354221974 | ADCY5 | c.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) | |
3 | g.123284667C>A | CA354221978 | ADCY5 | c.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) | |
3 | g.123284667C>G | CA354221981 | ADCY5 | c.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) | |
3 | g.123284667C>T | CA354221976 | ADCY5 | c.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) | |
3 | g.123284668C>A | CA354221983 | ADCY5 | c.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) | |
3 | g.123284668C>G | CA354221985 | ADCY5 | c.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) | |
3 | g.123284668C>T | CA435297679 | ADCY5 | c.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 |
3 | g.123284669T>A | CA2576692 | ADCY5 | c.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 |
3 | g.123284669T>C | CA354221988 | ADCY5 | c.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 |
3 | g.123284669T>G | CA354221990 | ADCY5 | c.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) | |
3 | g.123284669T= | CA1398327468 | ADCY5 | c.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=) | |
3 | g.123284670T>A | CA354221995 | ADCY5 | c.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) | |
3 | g.123284670T>C | CA2576693 | ADCY5 | c.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 |
3 | g.123284670T>G | CA354221992 | ADCY5 | c.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) | |
3 | g.123284670T= | CA1398327469 | ADCY5 | c.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=) | |
3 | g.123284671G>A | CA435297680 | ADCY5 | c.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=) | |
3 | g.123284671G>C | CA435297681 | ADCY5 | c.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=) | |
3 | g.123284671G>T | CA435297682 | ADCY5 | c.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=) | |
3 | g.123284672A>C | CA354221997 | ADCY5 | c.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) | |
3 | g.123284672A>G | CA354222000 | ADCY5 | c.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) | |
3 | g.123284672A>T | CA354222002 | ADCY5 | c.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) | |
3 | g.123284673C>A | CA354222004 | ADCY5 | c.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) | |
3 | g.123284673C>G | CA354222006 | ADCY5 | c.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) | |
3 | g.123284673C>T | CA354222008 | ADCY5 | c.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 |
3 | g.123284674C>A | CA435297685 | ADCY5 | c.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=) | |
3 | g.123284674C>G | CA435297683 | ADCY5 | c.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=) | |
3 | g.123284674C>T | CA435297684 | ADCY5 | c.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=) | |
3 | g.123284675A>C | CA354222010 | ADCY5 | c.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) | |
3 | g.123284675A>G | CA354222014 | ADCY5 | c.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) | |
3 | g.123284675A>T | CA354222012 | ADCY5 | c.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) | |
3 | g.123284676C>A | CA354222016 | ADCY5 | c.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 |
3 | g.123284676C= | CA1398327470 | ADCY5 | c.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=) | |
3 | g.123284676C>G | CA354222018 | ADCY5 | c.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 |
3 | g.123284676C>T | CA2576694 | ADCY5 | c.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 |
3 | g.123284676dup | CA2667292098 | ADCY5 | c.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 |
3 | g.123284677G>A | CA2576695 | ADCY5 | c.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 |
3 | g.123284677G>C | CA435297686 | ADCY5 | c.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=) | |
3 | g.123284677G= | CA1398327471 | ADCY5 | c.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=) | |
3 | g.123284677G>T | CA435297687 | ADCY5 | c.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 |
3 | g.123284678C>A | CA354222023 | ADCY5 | c.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) | |
3 | g.123284678C= | CA1398327472 | ADCY5 | c.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=) | |
3 | g.123284678C>G | CA354222025 | ADCY5 | c.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) | |
3 | g.123284678C>T | CA354222027 | ADCY5 | c.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 |
3 | g.123284678_123284679insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACC | CA2667292117 | ADCY5 | c.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 |
3 | g.123284679C>A | CA354222029 | ADCY5 | c.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) | |
3 | g.123284679C= | CA1398327473 | ADCY5 | c.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=) | |
3 | g.123284679C>G | CA354222031 | ADCY5 | c.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) | |
3 | g.123284679C>T | CA354222033 | ADCY5 | c.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 |
3 | g.123284680C>A | CA435297688 | ADCY5 | c.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=) | |
3 | g.123284680C>G | CA435297690 | ADCY5 | c.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=) | |
3 | g.123284680C>T | CA435297689 | ADCY5 | c.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=) | |
3 | g.123284681C>A | CA354222035 | ADCY5 | c.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 |
3 | g.123284681C= | CA1398327474 | ADCY5 | c.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=) | |
3 | g.123284681C>G | CA354222039 | ADCY5 | c.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 |
3 | g.123284681C>T | CA354222037 | ADCY5 | c.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 |
3 | g.123284682G>A | CA354222041 | ADCY5 | c.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 |
3 | g.123284682G>C | CA354222043 | ADCY5 | c.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) | |
3 | g.123284682G>T | CA435297691 | ADCY5 | c.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=) | |
3 | g.123284683G>A | CA435297692 | ADCY5 | c.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=) | |
3 | g.123284683G>C | CA354222046 | ADCY5 | c.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) | |
3 | g.123284683G= | CA1398327475 | ADCY5 | c.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=) | |
3 | g.123284683G>T | CA354222048 | ADCY5 | c.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 |
3 | g.123284684C>A | CA354222050 | ADCY5 | c.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) | |
3 | g.123284684C>G | CA354222052 | ADCY5 | c.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) | |
3 | g.123284684C>T | CA354222053 | ADCY5 | c.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 |
3 | g.123284685A>C | CA354222055 | ADCY5 | c.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) | |
3 | g.123284685A>G | CA354222057 | ADCY5 | c.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) | |
3 | g.123284685A>T | CA354222059 | ADCY5 | c.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) | |
3 | g.123284686C>A | CA354222061 | ADCY5 | c.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) | |
3 | g.123284686C= | CA1398327476 | ADCY5 | c.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=) | |
3 | g.123284686C>G | CA354222063 | ADCY5 | c.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) | |
3 | g.123284686C>T | CA435297693 | ADCY5 | c.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 |
3 | g.123284687T>A | CA354222065 | ADCY5 | c.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) | |
3 | g.123284687T>C | CA354222067 | ADCY5 | c.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) | |
3 | g.123284687T>G | CA354222069 | ADCY5 | c.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) | |
3 | g.123284688C>A | CA354222072 | ADCY5 | c.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 |
3 | g.123284688C= | CA1398327477 | ADCY5 | c.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=) | |
3 | g.123284688C>G | CA354222076 | ADCY5 | c.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) | |
3 | g.123284688C>T | CA354222073 | ADCY5 | c.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) | |
3 | g.123284689C>A | CA435297694 | ADCY5 | c.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=) | |
3 | g.123284689C= | CA1398327478 | ADCY5 | c.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=) | |
3 | g.123284689C>G | CA435297695 | ADCY5 | c.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=) | |
3 | g.123284689C>T | CA2576696 | ADCY5 | c.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 |
3 | g.123284690A>C | CA354222079 | ADCY5 | c.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) | |
3 | g.123284690A>G | CA354222081 | ADCY5 | c.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) | |
3 | g.123284690A>T | CA354222083 | ADCY5 | c.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) | |
3 | g.123284691G>A | CA435297696 | ADCY5 | c.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=) | |
3 | g.123284691G>C | CA354222084 | ADCY5 | c.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) | |
3 | g.123284691G>T | CA354222085 | ADCY5 | c.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) | |
3 | g.123284692C>A | CA354222086 | ADCY5 | c.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) | |
3 | g.123284692C>G | CA354222087 | ADCY5 | c.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) | |
3 | g.123284692C>T | CA435297697 | ADCY5 | c.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=) | |
3 | g.123284693T>A | CA82899776 | ADCY5 | c.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 |
3 | g.123284693T>C | CA354222088 | ADCY5 | c.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) | |
3 | g.123284693T>G | CA354222089 | ADCY5 | c.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) | |
3 | g.123284693T= | CA1398327479 | ADCY5 | c.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=) | |
3 | g.123284694G>A | CA354222092 | ADCY5 | c.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 |
3 | g.123284694G>C | CA354222091 | ADCY5 | c.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) | |
3 | g.123284694G= | CA1398327480 | ADCY5 | c.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=) | |
3 | g.123284694G>T | CA354222090 | ADCY5 | c.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 |
3 | g.123284695G>A | CA435297698 | ADCY5 | c.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=) | |
3 | g.123284695G>C | CA354222094 | ADCY5 | c.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) | |
3 | g.123284695G>T | CA354222093 | ADCY5 | c.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) | |
3 | g.123284696T>A | CA354222095 | ADCY5 | c.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) | |
3 | g.123284696T>C | CA354222096 | ADCY5 | c.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) | |
3 | g.123284696T>G | CA354222097 | ADCY5 | c.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) | |
3 | g.123284697A>C | CA354222098 | ADCY5 | c.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) | |
3 | g.123284697A>G | CA354222099 | ADCY5 | c.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) | |
3 | g.123284697A>T | CA354222100 | ADCY5 | c.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) | |
3 | g.123284698C>A | CA2576698 | ADCY5 | c.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 |
3 | g.123284698C= | CA1398327481 | ADCY5 | c.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=) | |
3 | g.123284698C>G | CA435297699 | ADCY5 | c.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=) | |
3 | g.123284698C>T | CA2576697 | ADCY5 | c.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 |
3 | g.123284699G>A | CA2576699 | ADCY5 | c.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 |
3 | g.123284699G>C | CA354222101 | ADCY5 | c.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) | |
3 | g.123284699G= | CA1398327482 | ADCY5 | c.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=) | |
3 | g.123284699G>T | CA354222102 | ADCY5 | c.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 |
3 | g.123284700T>A | CA354222104 | ADCY5 | c.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) | |
3 | g.123284700T>C | CA354222105 | ADCY5 | c.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) | |
3 | g.123284700T>G | CA354222103 | ADCY5 | c.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) | |
3 | g.123284701G>A | CA435297700 | ADCY5 | c.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=) | |
3 | g.123284701G>C | CA354222106 | ADCY5 | c.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) | |
3 | g.123284701G>T | CA354222107 | ADCY5 | c.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) | |
3 | g.123284702T>A | CA354222108 | ADCY5 | c.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) | |
3 | g.123284702T>C | CA354222109 | ADCY5 | c.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) | |
3 | g.123284702T>G | CA354222110 | ADCY5 | c.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) | |
3 | g.123284703T>A | CA354222113 | ADCY5 | c.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) | |
3 | g.123284703T>C | CA354222111 | ADCY5 | c.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 |
3 | g.123284703T>G | CA354222112 | ADCY5 | c.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) | |
3 | g.123284704G>A | CA435297701 | ADCY5 | c.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 |
3 | g.123284704G>C | CA435297702 | ADCY5 | c.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=) | |
3 | g.123284704G= | CA1398327483 | ADCY5 | c.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=) | |
3 | g.123284704G>T | CA435297703 | ADCY5 | c.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=) | |
3 | g.123284705G>A | CA354222114 | ADCY5 | c.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) | |
3 | g.123284705G>C | CA354222115 | ADCY5 | c.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) | |
3 | g.123284705G>T | CA354222116 | ADCY5 | c.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) | |
3 | g.123284706C>A | CA354222117 | ADCY5 | c.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) | |
3 | g.123284706C>G | CA354222118 | ADCY5 | c.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) | |
3 | g.123284706C>T | CA354222119 | ADCY5 | c.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 |
3 | g.123284707A= | CA1398327484 | ADCY5 | c.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=) | |
3 | g.123284707A>C | CA435297704 | ADCY5 | c.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=) | |
3 | g.123284707A>G | CA82899795 | ADCY5 | c.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 |
3 | g.123284707A>T | CA435297705 | ADCY5 | c.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=) | |
3 | g.123284708G>A | CA354222121 | ADCY5 | c.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) | |
3 | g.123284708G>C | CA354222122 | ADCY5 | c.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) | |
3 | g.123284708G>T | CA354222120 | ADCY5 | c.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) | |
3 | g.123284709C>A | CA354222123 | ADCY5 | c.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) | |
3 | g.123284709C>G | CA354222125 | ADCY5 | c.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) | |
3 | g.123284709C>T | CA354222124 | ADCY5 | c.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) | |
3 | g.123284710C>A | CA435297706 | ADCY5 | c.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=) | |
3 | g.123284710C= | CA1398327485 | ADCY5 | c.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=) | |
3 | g.123284710C>G | CA435297707 | ADCY5 | c.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=) | |
3 | g.123284710C>T | CA2576700 | ADCY5 | c.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 |
3 | g.123284711A>C | CA354222126 | ADCY5 | c.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) | |
3 | g.123284711A>G | CA354222127 | ADCY5 | c.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) | |
3 | g.123284711A>T | CA354222128 | ADCY5 | c.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) | |
3 | g.123284712del | CA2740455151 | ADCY5 | c.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) | |
3 | g.123284712G>A | CA435297708 | ADCY5 | c.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 |
3 | g.123284712G>C | CA354222129 | ADCY5 | c.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) | |
3 | g.123284712G>T | CA354222130 | ADCY5 | c.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 |
3 | g.123284713C>A | CA435297709 | ADCY5 | c.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=) | |
3 | g.123284713C>G | CA435297710 | ADCY5 | c.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=) | |
3 | g.123284713C>T | CA435297711 | ADCY5 | c.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=) | |
3 | g.123284714A>C | CA354222131 | ADCY5 | c.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) | |
3 | g.123284714A>G | CA354222132 | ADCY5 | c.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) | |
3 | g.123284714A>T | CA354222133 | ADCY5 | c.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 |
3 | g.123284715C>A | CA354222134 | ADCY5 | c.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) | |
3 | g.123284715C>G | CA354222135 | ADCY5 | c.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) | |
3 | g.123284715C>T | CA354222136 | ADCY5 | c.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 |
3 | g.123284716C>A | CA354222138 | ADCY5 | c.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) | |
3 | g.123284716C>G | CA354222137 | ADCY5 | c.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) | |
3 | g.123284716C>T | CA435297712 | ADCY5 | c.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=) | |
3 | g.123284717T>A | CA354222139 | ADCY5 | c.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) | |
3 | g.123284717T>C | CA354222140 | ADCY5 | c.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 |
3 | g.123284717T>G | CA354222141 | ADCY5 | c.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) | |
3 | g.123284718G>A | CA354222142 | ADCY5 | c.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 |
3 | g.123284718G>C | CA354222143 | ADCY5 | c.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) | |
3 | g.123284718G= | CA1398327486 | ADCY5 | c.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=) | |
3 | g.123284718G>T | CA354222144 | ADCY5 | c.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) | |
3 | g.123284719G>A | CA435297713 | ADCY5 | c.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=) | |
3 | g.123284719G>C | CA354222145 | ADCY5 | c.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) | |
3 | g.123284719G>T | CA354222146 | ADCY5 | c.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) | |
3 | g.123284720T>A | CA354222147 | ADCY5 | c.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) | |
3 | g.123284720T>C | CA354222148 | ADCY5 | c.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) | |
3 | g.123284720T>G | CA354222149 | ADCY5 | c.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) | |
3 | g.123284721A>C | CA354222152 | ADCY5 | c.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) | |
3 | g.123284721A>G | CA354222151 | ADCY5 | c.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) | |
3 | g.123284721A>T | CA354222150 | ADCY5 | c.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) | |
3 | g.123284722C>A | CA354222153 | ADCY5 | c.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 |
3 | g.123284722C= | CA1398327487 | ADCY5 | c.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=) | |
3 | g.123284722C>G | CA354222154 | ADCY5 | c.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 |
3 | g.123284722C>T | CA2576701 | ADCY5 | c.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 |
3 | g.123284723A= | CA1398327488 | ADCY5 | c.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=) | |
3 | g.123284723A>C | CA354222155 | ADCY5 | c.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) | |
3 | g.123284723A>G | CA2576702 | ADCY5 | c.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 |
3 | g.123284723A>T | CA354222156 | ADCY5 | c.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) | |
3 | g.123284724T>A | CA354222157 | ADCY5 | c.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) | |
3 | g.123284724T>C | CA354222158 | ADCY5 | c.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 |
3 | g.123284724T>G | CA354222159 | ADCY5 | c.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) | |
3 | g.123284725G>A | CA2576703 | ADCY5 | c.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 |
3 | g.123284725G>C | CA354222160 | ADCY5 | c.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) | |
3 | g.123284725G= | CA1398327489 | ADCY5 | c.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=) | |
3 | g.123284725G>T | CA354222161 | ADCY5 | c.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) | |
3 | g.123284726T>A | CA354222164 | ADCY5 | c.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) | |
3 | g.123284726T>C | CA354222163 | ADCY5 | c.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) | |
3 | g.123284726T>G | CA354222162 | ADCY5 | c.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) | |
3 | g.123284727C>A | CA354222165 | ADCY5 | c.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) | |
3 | g.123284727C>G | CA354222166 | ADCY5 | c.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) | |
3 | g.123284727C>T | CA354222167 | ADCY5 | c.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) | |
3 | g.123284728T>A | CA435297714 | ADCY5 | c.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=) | |
3 | g.123284728T>C | CA435297715 | ADCY5 | c.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=) | |
3 | g.123284728T>G | CA435297716 | ADCY5 | c.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=) | |
3 | g.123284729G>A | CA354222168 | ADCY5 | c.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) | |
3 | g.123284729G>C | CA354222169 | ADCY5 | c.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) | |
3 | g.123284729G>T | CA354222170 | ADCY5 | c.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) | |
3 | g.123284730T>A | CA354222171 | ADCY5 | c.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) | |
3 | g.123284730T>C | CA354222172 | ADCY5 | c.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) | |
3 | g.123284730T>G | CA354222173 | ADCY5 | c.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 |
3 | g.123284730T= | CA1398327490 | ADCY5 | c.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=) | |
3 | g.123284731G>A | CA435297717 | ADCY5 | c.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=) | |
3 | g.123284731G>C | CA435297718 | ADCY5 | c.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=) | |
3 | g.123284731G>T | CA435297719 | ADCY5 | c.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=) | |
3 | g.123284732G>A | CA354222174 | ADCY5 | c.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 |
3 | g.123284732G>C | CA2576704 | ADCY5 | c.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 |
3 | g.123284732G= | CA1398327491 | ADCY5 | c.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=) | |
3 | g.123284732G>T | CA354222175 | ADCY5 | c.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) | |
3 | g.123284733T>A | CA354222176 | ADCY5 | c.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) | |
3 | g.123284733T>C | CA354222178 | ADCY5 | c.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) | |
3 | g.123284733T>G | CA354222177 | ADCY5 | c.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) | |
3 | g.123284734G>A | CA435297720 | ADCY5 | c.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=) | |
3 | g.123284734G>C | CA435297721 | ADCY5 | c.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=) | |
3 | g.123284734G>T | CA435297722 | ADCY5 | c.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 |
3 | g.123284735A>C | CA354222179 | ADCY5 | c.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) | |
3 | g.123284735A>G | CA354222181 | ADCY5 | c.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) | |
3 | g.123284735A>T | CA354222180 | ADCY5 | c.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) | |
3 | g.123284736C>A | CA354222182 | ADCY5 | c.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) | |
3 | g.123284736C>G | CA354222184 | ADCY5 | c.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) | |
3 | g.123284736C>T | CA354222183 | ADCY5 | c.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) | |
3 | g.123284737C>A | CA354222185 | ADCY5 | c.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 |
3 | g.123284737C= | CA1398327492 | ADCY5 | c.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=) | |
3 | g.123284737C>G | CA354222186 | ADCY5 | c.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) | |
3 | g.123284737C>T | CA354222187 | ADCY5 | c.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) | |
3 | g.123284738T>A | CA354222188 | ADCY5 | c.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) | |
3 | g.123284738T>C | CA354222189 | ADCY5 | c.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) | |
3 | g.123284738T>G | CA354222190 | ADCY5 | c.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) | |
3 | g.123284739G>A | CA545690217 | ADCY5 | c.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 |
3 | g.123284739G= | CA1398327493 | ADCY5 | c.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=) | |
3 | g.123284740T>G | CA2740455152 | ADCY5 | c.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) | |
3 | g.123284741G>A | CA2667292295 | ADCY5 | c.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 |
3 | g.123284745dup | CA2667292294 | ADCY5 | c.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 |
3 | g.123284742G>T | CA2758205414 | ADCY5 | c.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) | |
3 | g.123284743G>A | CA2667292305 | ADCY5 | c.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 |
3 | g.123284743G>C | CA2667292307 | ADCY5 | c.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 |
3 | g.123284744G= | CA1398327494 | ADCY5 | c.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=) | |
3 | g.123284744G>T | CA2576705 | ADCY5 | c.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 |
3 | g.123284745G>A | CA2667292315 | ADCY5 | c.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 |
3 | g.123284745G= | CA1398327495 | ADCY5 | c.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=) | |
3 | g.123284745G>T | CA2576706 | ADCY5 | c.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 |
3 | g.123284748C>A | CA82899812 | ADCY5 | c.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 |
3 | g.123284748C= | CA1398327497 | ADCY5 | c.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=) | |
3 | g.123284748C>G | CA2667292323 | ADCY5 | c.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 |
3 | g.123284748C>T | CA1398327498 | ADCY5 | c.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 |
3 | g.123284748_123284751delinsCAGG | CA1398327496 | ADCY5 | c.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) | |
3 | g.123284749A>T | CA2667292332 | ADCY5 | c.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 |
3 | g.123284754_123284756del | CA2576707 | ADCY5 | c.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 |
3 | g.123284750G>A | CA2576709 | ADCY5 | c.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 |
3 | g.123284750G= | CA1398327500 | ADCY5 | c.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=) | |
3 | g.123284750_123284755delinsGGAGGA | CA1398327499 | ADCY5 | c.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) | |
3 | g.123284751G>A | CA2667292342 | ADCY5 | c.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 |
3 | g.123284754_123284758del | CA2576708 | ADCY5 | c.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 |
3 | g.123284752A= | CA1398327501 | ADCY5 | c.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=) | |
3 | g.123284752A>T | CA2576710 | ADCY5 | c.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 |
3 | g.123284753_123284755delinsGGA | CA1398327502 | ADCY5 | c.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) | |
3 | g.123284754G>A | CA898155577 | ADCY5 | c.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 |
3 | g.123284754G= | CA1398327503 | ADCY5 | c.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=) | |
3 | g.123284759_123284760dup | CA2667292360 | ADCY5 | c.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 |
3 | g.123284759_123284760del | CA545690226 | ADCY5 | c.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 |
3 | g.123284755A= | CA1398327504 | ADCY5 | c.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=) | |
3 | g.123284755A>G | CA2576711 | ADCY5 | c.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 |
3 | g.123284756G>A | CA2576712 | ADCY5 | c.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 |
3 | g.123284756G= | CA1398327505 | ADCY5 | c.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=) | |
3 | g.123284758G>A | CA2667292373 | ADCY5 | c.2335-22C>T (n.2335-22C>T) c.2623-22C>T (n.2623-22C>T) n.2061-22C>T c.3733-22C>T (n.3733-22C>T) c.3658-22C>T (n.3658-22C>T) c.2608-22C>T (n.2608-22C>T) n.428-22C>T c.2632-22C>T (n.2632-22C>T) c.2683-22C>T (n.2683-22C>T) c.2410-22C>T (n.2410-22C>T) c.2734-22C>T (n.2734-22C>T) c.2644-22C>T (n.2644-22C>T) c.2635-22C>T (n.2635-22C>T) | gnomAD v4 |