Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94493552_94493640delinsCCTACACTTGGACTTCACAAGACGCCACTGAGAGCAGCCTGCACTTTACACCTGGACTCCACAAGACACCACTGAGAGCAGCCTACACTCA2156010618SERPINA12c.905+2733_905+2821delinsAGTGTAGGCTGCTCTCAGTGGTGTCTTGTGGAGTCCAGGTGTAAAGTGCAGGCTGCTCTCAGTGGCGTCTTGTGAAGTCCAAGTGTAGG (n.905+2733_905+2821delinsAGTGTAGGCTGCTCTCAGTGGTGTCTTGTGGAGTCCAGGTGTAAAGTGCAGGCTGCTCTCAGTGGCGTCTTGTGAAGTCCAAGTGTAGG)
14g.94493570_94493657delCA966148186SERPINA12c.905+2733_905+2820del (n.905+2733_905+2820del)
dbSNP gnomAD v3 gnomAD v4
14g.94493559_94493602delCA2802666845SERPINA12c.905+2776_905+2819del (n.905+2776_905+2819del)
14g.94493590_94493677delCA2802666847SERPINA12c.905+2715_905+2802del (n.905+2715_905+2802del)
14g.94493575_94493619delinsGCCACTGAGAGCAGCCTGCACTTTACACCTGGACTCCACAAGACACA2156010634SERPINA12c.905+2754_905+2798delinsTGTCTTGTGGAGTCCAGGTGTAAAGTGCAGGCTGCTCTCAGTGGC (n.905+2754_905+2798delinsTGTCTTGTGGAGTCCAGGTGTAAAGTGCAGGCTGCTCTCAGTGGC)
14g.94493592_94493635delCA615833768SERPINA12c.905+2754_905+2797del (n.905+2754_905+2797del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493577C=CA2156010635SERPINA12c.905+2796G= (n.905+2796G=)
14g.94493577C>TCA710128797SERPINA12c.905+2796G>A (n.905+2796G>A)
dbSNP gnomAD v3 gnomAD v4
14g.94493578A=CA2156010636SERPINA12c.905+2795T= (n.905+2795T=)
14g.94493578A>GCA2156010637SERPINA12c.905+2795T>C (n.905+2795T>C)
dbSNP
14g.94493580T>CCA265878875SERPINA12c.905+2793A>G (n.905+2793A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493580T=CA2156010638SERPINA12c.905+2793A= (n.905+2793A=)
14g.94493583G>ACA913963186SERPINA12c.905+2790C>T (n.905+2790C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493583G>CCA2802666848SERPINA12c.905+2790C>G (n.905+2790C>G)
14g.94493583G=CA2156010639SERPINA12c.905+2790C= (n.905+2790C=)
14g.94493584dupCA2156010640SERPINA12c.905+2789dup (n.905+2789dup)
dbSNP
14g.94493586C>ACA265878876SERPINA12c.905+2787G>T (n.905+2787G>T)
dbSNP gnomAD v3 gnomAD v4
14g.94493586C=CA2156010641SERPINA12c.905+2787G= (n.905+2787G=)
14g.94493587A=CA2156010642SERPINA12c.905+2786T= (n.905+2786T=)
14g.94493587A>TCA2156010643SERPINA12c.905+2786T>A (n.905+2786T>A)
dbSNP
14g.94493589C=CA2156010644SERPINA12c.905+2784G= (n.905+2784G=)
14g.94493589C>TCA265878877SERPINA12c.905+2784G>A (n.905+2784G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493589_94493596delinsCCTGCACTCA2156010645SERPINA12c.905+2777_905+2784delinsAGTGCAGG (n.905+2777_905+2784delinsAGTGCAGG)
14g.94493590_94493596delCA2156010646SERPINA12c.905+2777_905+2783del (n.905+2777_905+2783del)
dbSNP
14g.94493591T>CCA265878880SERPINA12c.905+2782A>G (n.905+2782A>G)
dbSNP
14g.94493591T=CA2156010647SERPINA12c.905+2782A= (n.905+2782A=)
14g.94493592G>ACA710128804SERPINA12c.905+2781C>T (n.905+2781C>T)
dbSNP gnomAD v3 gnomAD v4
14g.94493592G=CA2156010648SERPINA12c.905+2781C= (n.905+2781C=)
14g.94493593C>ACA615833770SERPINA12c.905+2780G>T (n.905+2780G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493593C=CA2156010649SERPINA12c.905+2780G= (n.905+2780G=)
14g.94493593C>TCA265878881SERPINA12c.905+2780G>A (n.905+2780G>A)
dbSNP gnomAD v3 gnomAD v4
14g.94493597T>CCA710128807SERPINA12c.905+2776A>G (n.905+2776A>G)
dbSNP
14g.94493597T=CA2156010650SERPINA12c.905+2776A= (n.905+2776A=)
14g.94493598T>CCA615833771SERPINA12c.905+2775A>G (n.905+2775A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493598T=CA2156010651SERPINA12c.905+2775A= (n.905+2775A=)
14g.94493599A=CA2156010652SERPINA12c.905+2774T= (n.905+2774T=)
14g.94493599A>TCA966148210SERPINA12c.905+2774T>A (n.905+2774T>A)
dbSNP gnomAD v3 gnomAD v4
14g.94493602C>TCA2730110764SERPINA12c.905+2771G>A (n.905+2771G>A)
dbSNP
14g.94493603C=CA2156010653SERPINA12c.905+2770G= (n.905+2770G=)
14g.94493603C>TCA710128809SERPINA12c.905+2770G>A (n.905+2770G>A)
dbSNP
14g.94493604T>GCA2730110776SERPINA12c.905+2769A>C (n.905+2769A>C)
dbSNP
14g.94493607A>GCA2519493070SERPINA12c.905+2766T>C (n.905+2766T>C)
14g.94493609T>ACA265878886SERPINA12c.905+2764A>T (n.905+2764A>T)
dbSNP
14g.94493609T>CCA2802666849SERPINA12c.905+2764A>G (n.905+2764A>G)
14g.94493609T>GCA265878890SERPINA12c.905+2764A>C (n.905+2764A>C)
dbSNP gnomAD v3 gnomAD v4
14g.94493609T=CA2156010654SERPINA12c.905+2764A= (n.905+2764A=)
14g.94493610C=CA2156010655SERPINA12c.905+2763G= (n.905+2763G=)
14g.94493610C>TCA265878898SERPINA12c.905+2763G>A (n.905+2763G>A)
dbSNP
14g.94493611C=CA2156010657SERPINA12c.905+2762G= (n.905+2762G=)
14g.94493611C>TCA2156010656SERPINA12c.905+2762G>A (n.905+2762G>A)
dbSNP
14g.94493614A=CA2156010658SERPINA12c.905+2759T= (n.905+2759T=)
14g.94493614A>GCA710128815SERPINA12c.905+2759T>C (n.905+2759T>C)
dbSNP
14g.94493614_94493658delinsAAGACACCACTGAGAGCAGCCTACACTCTACACTTGGACTTCACGCA2156010659SERPINA12c.905+2715_905+2759delinsCGTGAAGTCCAAGTGTAGAGTGTAGGCTGCTCTCAGTGGTGTCTT (n.905+2715_905+2759delinsCGTGAAGTCCAAGTGTAGAGTGTAGGCTGCTCTCAGTGGTGTCTT)
14g.94493619_94493662delCA966148233SERPINA12c.905+2715_905+2758del (n.905+2715_905+2758del)
dbSNP gnomAD v3 gnomAD v4
14g.94493616G>ACA966148234SERPINA12c.905+2757C>T (n.905+2757C>T)
dbSNP gnomAD v3 gnomAD v4
14g.94493616G=CA2156010660SERPINA12c.905+2757C= (n.905+2757C=)
14g.94493619A=CA2156010661SERPINA12c.905+2754T= (n.905+2754T=)
14g.94493619A>GCA710128822SERPINA12c.905+2754T>C (n.905+2754T>C)
dbSNP
14g.94493619_94493663delinsACCACTGAGAGCAGCCTACACTCTACACTTGGACTTCACGAGACGCA2156010662SERPINA12c.905+2710_905+2754delinsCGTCTCGTGAAGTCCAAGTGTAGAGTGTAGGCTGCTCTCAGTGGT (n.905+2710_905+2754delinsCGTCTCGTGAAGTCCAAGTGTAGAGTGTAGGCTGCTCTCAGTGGT)
14g.94493620C>ACA2156010664SERPINA12c.905+2753G>T (n.905+2753G>T)
dbSNP
14g.94493620C=CA2156010666SERPINA12c.905+2753G= (n.905+2753G=)
14g.94493620C>GCA2156010663SERPINA12c.905+2753G>C (n.905+2753G>C)
dbSNP
14g.94493634_94493677delCA2156010665SERPINA12c.905+2710_905+2753del (n.905+2710_905+2753del)
dbSNP gnomAD v3 gnomAD v4
14g.94493621_94493624delinsCACTCA2156010667SERPINA12c.905+2749_905+2752delinsAGTG (n.905+2749_905+2752delinsAGTG)
14g.94493622A=CA2156010669SERPINA12c.905+2751T= (n.905+2751T=)
14g.94493622A>GCA615833772SERPINA12c.905+2751T>C (n.905+2751T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493622_94493624delCA2156010668SERPINA12c.905+2749_905+2751del (n.905+2749_905+2751del)
dbSNP gnomAD v3 gnomAD v4
14g.94493624T>CCA966148241SERPINA12c.905+2749A>G (n.905+2749A>G)
gnomAD v3 gnomAD v4
14g.94493624T>GCA2156010671SERPINA12c.905+2749A>C (n.905+2749A>C)
dbSNP
14g.94493624T=CA2156010670SERPINA12c.905+2749A= (n.905+2749A=)
14g.94493628A=CA2156010672SERPINA12c.905+2745T= (n.905+2745T=)
14g.94493628A>TCA2156010673SERPINA12c.905+2745T>A (n.905+2745T>A)
dbSNP
14g.94493629G>ACA2156010675SERPINA12c.905+2744C>T (n.905+2744C>T)
dbSNP
14g.94493629G=CA2156010674SERPINA12c.905+2744C= (n.905+2744C=)
14g.94493630C=CA2156010676SERPINA12c.905+2743G= (n.905+2743G=)
14g.94493630C>TCA710128824SERPINA12c.905+2743G>A (n.905+2743G>A)
dbSNP gnomAD v3 gnomAD v4
14g.94493631A=CA2156010677SERPINA12c.905+2742T= (n.905+2742T=)
14g.94493631A>TCA2156010678SERPINA12c.905+2742T>A (n.905+2742T>A)
dbSNP
14g.94493632G>ACA2538534663SERPINA12c.905+2741C>T (n.905+2741C>T)
14g.94493633_94493640delinsCCTACACTCA2156010679SERPINA12c.905+2733_905+2740delinsAGTGTAGG (n.905+2733_905+2740delinsAGTGTAGG)
14g.94493634C=CA2156010680SERPINA12c.905+2739G= (n.905+2739G=)
14g.94493634C>GCA710128826SERPINA12c.905+2739G>C (n.905+2739G>C)
dbSNP
14g.94493634C>TCA2156010681SERPINA12c.905+2739G>A (n.905+2739G>A)
dbSNP
14g.94493641_94493647delCA710128827SERPINA12c.905+2733_905+2739del (n.905+2733_905+2739del)
dbSNP
14g.94493635_94493637delinsTACCA2156010682SERPINA12c.905+2736_905+2738delinsGTA (n.905+2736_905+2738delinsGTA)
14g.94493657_94493658insAAGACGCCACTGAGAGCAGCTTACACTCTACACTTGGACTTCACCA2802666850SERPINA12c.905+2738_905+2739insAGCTGCTCTCAGTGGCGTCTTGTGAAGTCCAAGTGTAGAGTGTA (n.905+2738_905+2739insAGCTGCTCTCAGTGGCGTCTTGTGAAGTCCAAGTGTAGAGTGTA)
14g.94493636A=CA2156010684SERPINA12c.905+2737T= (n.905+2737T=)
14g.94493636A>GCA710128829SERPINA12c.905+2737T>C (n.905+2737T>C)
dbSNP
14g.94493638_94493639delCA2156010683SERPINA12c.905+2736_905+2737del (n.905+2736_905+2737del)
dbSNP
14g.94493639C=CA2156010685SERPINA12c.905+2734G= (n.905+2734G=)
14g.94493639C>GCA2598334242SERPINA12c.905+2734G>C (n.905+2734G>C)
dbSNP gnomAD v3 gnomAD v4
14g.94493639C>TCA2156010686SERPINA12c.905+2734G>A (n.905+2734G>A)
dbSNP
14g.94493641C=CA2156010688SERPINA12c.905+2732G= (n.905+2732G=)
14g.94493641C>TCA710128834SERPINA12c.905+2732G>A (n.905+2732G>A)
dbSNP
14g.94493641_94493678delinsCTACACTTGGACTTCACGAGACGCCACTGAGAGCAGCTCA2156010687SERPINA12c.905+2695_905+2732delinsAGCTGCTCTCAGTGGCGTCTCGTGAAGTCCAAGTGTAG (n.905+2695_905+2732delinsAGCTGCTCTCAGTGGCGTCTCGTGAAGTCCAAGTGTAG)
14g.94493658_94493694delCA265878903SERPINA12c.905+2695_905+2731del (n.905+2695_905+2731del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493647T>CCA710128840SERPINA12c.905+2726A>G (n.905+2726A>G)
dbSNP
14g.94493647T=CA2156010689SERPINA12c.905+2726A= (n.905+2726A=)
14g.94493648T>CCA2156010691SERPINA12c.905+2725A>G (n.905+2725A>G)
dbSNP
14g.94493648T=CA2156010690SERPINA12c.905+2725A= (n.905+2725A=)
14g.94493650G>ACA2156010693SERPINA12c.905+2723C>T (n.905+2723C>T)
dbSNP
14g.94493650G=CA2156010692SERPINA12c.905+2723C= (n.905+2723C=)
14g.94493654T>CCA710128842SERPINA12c.905+2719A>G (n.905+2719A>G)
dbSNP
14g.94493654T=CA2156010694SERPINA12c.905+2719A= (n.905+2719A=)
14g.94493657C=CA2156010695SERPINA12c.905+2716G= (n.905+2716G=)
14g.94493657C>TCA265878904SERPINA12c.905+2716G>A (n.905+2716G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493658G>ACA13947725SERPINA12c.905+2715C>T (n.905+2715C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493658G>CCA2156010697SERPINA12c.905+2715C>G (n.905+2715C>G)
dbSNP
14g.94493658G=CA2156010696SERPINA12c.905+2715C= (n.905+2715C=)
14g.94493658_94493695delinsGAGACGCCACTGAGAGCAGCTTACACTTGGACTTCACACA2156010698SERPINA12c.905+2678_905+2715delinsTGTGAAGTCCAAGTGTAAGCTGCTCTCAGTGGCGTCTC (n.905+2678_905+2715delinsTGTGAAGTCCAAGTGTAAGCTGCTCTCAGTGGCGTCTC)
14g.94493677_94493678insCTACACTCTACACTTGGACTTCACAAGACGCCACTGAGAGCAGCCA2802666852SERPINA12c.905+2714_905+2715insTGTGAAGTCCAAGTGTAGAGTGTAGGCTGCTCTCAGTGGCGTCT (n.905+2714_905+2715insTGTGAAGTCCAAGTGTAGAGTGTAGGCTGCTCTCAGTGGCGTCT)
14g.94493702_94493703insACTGAGAGCAGCTTACACTTGGACTTCACAAGACGCCACTGAGAGCAGCTTACACTTGGACTTCACAAGACGCCCA2802666851SERPINA12c.905+2714_905+2715insTGTGAAGTCCAAGTGTAAGCTGCTCTCAGTGGCGTCTTGTGAAGTCCAAGTGTAAGCTGCTCTCAGTGGCGTCT (n.905+2714_905+2715insTGTGAAGTCCAAGTGTAAGCTGCTCTCAGTGGCGTCTTGTGAAGTCCAAGTGTAAGCTGCTCTCAGTGGCGTCT)
14g.94493666_94493702dupCA615833776SERPINA12c.905+2678_905+2714dup (n.905+2678_905+2714dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493666_94493702delCA2156010699SERPINA12c.905+2678_905+2714del (n.905+2678_905+2714del)
dbSNP
14g.94493662C=CA2156010700SERPINA12c.905+2711G= (n.905+2711G=)
14g.94493662C>TCA265878906SERPINA12c.905+2711G>A (n.905+2711G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493663G>ACA265878907SERPINA12c.905+2710C>T (n.905+2710C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493663G=CA2156010701SERPINA12c.905+2710C= (n.905+2710C=)
14g.94493664C>ACA2156010703SERPINA12c.905+2709G>T (n.905+2709G>T)
dbSNP
14g.94493664C=CA2156010702SERPINA12c.905+2709G= (n.905+2709G=)
14g.94493665C>TCA2802666853SERPINA12c.905+2708G>A (n.905+2708G>A)
14g.94493666A=CA2156010704SERPINA12c.905+2707T= (n.905+2707T=)
14g.94493666A>CCA265878913SERPINA12c.905+2707T>G (n.905+2707T>G)
dbSNP gnomAD v3 gnomAD v4
14g.94493666A>TCA2156010705SERPINA12c.905+2707T>A (n.905+2707T>A)
dbSNP
14g.94493667C=CA2156010706SERPINA12c.905+2706G= (n.905+2706G=)
14g.94493667C>TCA265878930SERPINA12c.905+2706G>A (n.905+2706G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94493668T>CCA265878934SERPINA12c.905+2705A>G (n.905+2705A>G)
dbSNP
14g.94493668T=CA2156010707SERPINA12c.905+2705A= (n.905+2705A=)
14g.94493677C=CA2156010708SERPINA12c.905+2696G= (n.905+2696G=)
14g.94493677C>TCA966148252SERPINA12c.905+2696G>A (n.905+2696G>A)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched