Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90716636_90716640delCA2674547020ADGRV1c.9354_9358del (p.Gln3118HisfsTer10)
c.265+40427_265+40431del (n.265+40427_265+40431del)
n.4813_4817del
c.3161_3165del
n.2498_2502del
c.4083_4087del
c.2051_2055del
n.9367_9371del
c.9351_9355del (p.Gln3117HisfsTer10)
c.9273_9277del (p.Gln3091HisfsTer10)
c.6657_6661del (p.Gln2219HisfsTer10)
n.272-824_272-820del
c.9375_9379del (p.Gln3125HisfsTer10)
c.9372_9376del (p.Gln3124HisfsTer10)
c.9294_9298del (p.Gln3098HisfsTer10)
c.9279_9283del (p.Gln3093HisfsTer10)
c.2493_2497del (p.Gln831HisfsTer10)
c.2472_2476del (p.Gln824HisfsTer10)
n.2523-824_2523-820del
n.9370_9374del
gnomAD v4
5g.90716635A>CCA360397493ADGRV1c.9353A>C (p.Gln3118Pro)
c.265+40426A>C (n.265+40426A>C)
n.4812A>C
c.3160A>C
n.2497A>C
c.4082A>C
c.2050A>C
n.9366A>C
c.9350A>C (p.Gln3117Pro)
c.9272A>C (p.Gln3091Pro)
c.6656A>C (p.Gln2219Pro)
n.272-826T>G
c.9374A>C (p.Gln3125Pro)
c.9371A>C (p.Gln3124Pro)
c.9293A>C (p.Gln3098Pro)
c.9278A>C (p.Gln3093Pro)
c.2492A>C (p.Gln831Pro)
c.2471A>C (p.Gln824Pro)
n.2523-826T>G
n.9369A>C
5g.90716635A>GCA360397494ADGRV1c.9353A>G (p.Gln3118Arg)
c.265+40426A>G (n.265+40426A>G)
n.4812A>G
c.3160A>G
n.2497A>G
c.4082A>G
c.2050A>G
n.9366A>G
c.9350A>G (p.Gln3117Arg)
c.9272A>G (p.Gln3091Arg)
c.6656A>G (p.Gln2219Arg)
n.272-826T>C
c.9374A>G (p.Gln3125Arg)
c.9371A>G (p.Gln3124Arg)
c.9293A>G (p.Gln3098Arg)
c.9278A>G (p.Gln3093Arg)
c.2492A>G (p.Gln831Arg)
c.2471A>G (p.Gln824Arg)
n.2523-826T>C
n.9369A>G
5g.90716635A>TCA360397496ADGRV1c.9353A>T (p.Gln3118Leu)
c.265+40426A>T (n.265+40426A>T)
n.4812A>T
c.3160A>T
n.2497A>T
c.4082A>T
c.2050A>T
n.9366A>T
c.9350A>T (p.Gln3117Leu)
c.9272A>T (p.Gln3091Leu)
c.6656A>T (p.Gln2219Leu)
n.272-826T>A
c.9374A>T (p.Gln3125Leu)
c.9371A>T (p.Gln3124Leu)
c.9293A>T (p.Gln3098Leu)
c.9278A>T (p.Gln3093Leu)
c.2492A>T (p.Gln831Leu)
c.2471A>T (p.Gln824Leu)
n.2523-826T>A
n.9369A>T
5g.90716636G>ACA445413751ADGRV1c.9354G>A (p.Gln3118=)
c.265+40427G>A (n.265+40427G>A)
n.4813G>A
c.3161G>A
n.2498G>A
c.4083G>A
c.2051G>A
n.9367G>A
c.9351G>A (p.Gln3117=)
c.9273G>A (p.Gln3091=)
c.6657G>A (p.Gln2219=)
n.272-827C>T
c.9375G>A (p.Gln3125=)
c.9372G>A (p.Gln3124=)
c.9294G>A (p.Gln3098=)
c.9279G>A (p.Gln3093=)
c.2493G>A (p.Gln831=)
c.2472G>A (p.Gln824=)
n.2523-827C>T
n.9370G>A
5g.90716636G>CCA360397497ADGRV1c.9354G>C (p.Gln3118His)
c.265+40427G>C (n.265+40427G>C)
n.4813G>C
c.3161G>C
n.2498G>C
c.4083G>C
c.2051G>C
n.9367G>C
c.9351G>C (p.Gln3117His)
c.9273G>C (p.Gln3091His)
c.6657G>C (p.Gln2219His)
n.272-827C>G
c.9375G>C (p.Gln3125His)
c.9372G>C (p.Gln3124His)
c.9294G>C (p.Gln3098His)
c.9279G>C (p.Gln3093His)
c.2493G>C (p.Gln831His)
c.2472G>C (p.Gln824His)
n.2523-827C>G
n.9370G>C
5g.90716636G>TCA360397499ADGRV1c.9354G>T (p.Gln3118His)
c.265+40427G>T (n.265+40427G>T)
n.4813G>T
c.3161G>T
n.2498G>T
c.4083G>T
c.2051G>T
n.9367G>T
c.9351G>T (p.Gln3117His)
c.9273G>T (p.Gln3091His)
c.6657G>T (p.Gln2219His)
n.272-827C>A
c.9375G>T (p.Gln3125His)
c.9372G>T (p.Gln3124His)
c.9294G>T (p.Gln3098His)
c.9279G>T (p.Gln3093His)
c.2493G>T (p.Gln831His)
c.2472G>T (p.Gln824His)
n.2523-827C>A
n.9370G>T
5g.90716637T>ACA360397501ADGRV1c.9355T>A (p.Phe3119Ile)
c.265+40428T>A (n.265+40428T>A)
n.4814T>A
c.3162T>A
n.2499T>A
c.4084T>A
c.2052T>A
n.9368T>A
c.9352T>A (p.Phe3118Ile)
c.9274T>A (p.Phe3092Ile)
c.6658T>A (p.Phe2220Ile)
n.272-828A>T
c.9376T>A (p.Phe3126Ile)
c.9373T>A (p.Phe3125Ile)
c.9295T>A (p.Phe3099Ile)
c.9280T>A (p.Phe3094Ile)
c.2494T>A (p.Phe832Ile)
c.2473T>A (p.Phe825Ile)
n.2523-828A>T
n.9371T>A
5g.90716637T>CCA360397504ADGRV1c.9355T>C (p.Phe3119Leu)
c.265+40428T>C (n.265+40428T>C)
n.4814T>C
c.3162T>C
n.2499T>C
c.4084T>C
c.2052T>C
n.9368T>C
c.9352T>C (p.Phe3118Leu)
c.9274T>C (p.Phe3092Leu)
c.6658T>C (p.Phe2220Leu)
n.272-828A>G
c.9376T>C (p.Phe3126Leu)
c.9373T>C (p.Phe3125Leu)
c.9295T>C (p.Phe3099Leu)
c.9280T>C (p.Phe3094Leu)
c.2494T>C (p.Phe832Leu)
c.2473T>C (p.Phe825Leu)
n.2523-828A>G
n.9371T>C
5g.90716637T>GCA360397502ADGRV1c.9355T>G (p.Phe3119Val)
c.265+40428T>G (n.265+40428T>G)
n.4814T>G
c.3162T>G
n.2499T>G
c.4084T>G
c.2052T>G
n.9368T>G
c.9352T>G (p.Phe3118Val)
c.9274T>G (p.Phe3092Val)
c.6658T>G (p.Phe2220Val)
n.272-828A>C
c.9376T>G (p.Phe3126Val)
c.9373T>G (p.Phe3125Val)
c.9295T>G (p.Phe3099Val)
c.9280T>G (p.Phe3094Val)
c.2494T>G (p.Phe832Val)
c.2473T>G (p.Phe825Val)
n.2523-828A>C
n.9371T>G
5g.90716638T>ACA360397506ADGRV1c.9356T>A (p.Phe3119Tyr)
c.265+40429T>A (n.265+40429T>A)
n.4815T>A
c.3163T>A
n.2500T>A
c.4085T>A
c.2053T>A
n.9369T>A
c.9353T>A (p.Phe3118Tyr)
c.9275T>A (p.Phe3092Tyr)
c.6659T>A (p.Phe2220Tyr)
n.272-829A>T
c.9377T>A (p.Phe3126Tyr)
c.9374T>A (p.Phe3125Tyr)
c.9296T>A (p.Phe3099Tyr)
c.9281T>A (p.Phe3094Tyr)
c.2495T>A (p.Phe832Tyr)
c.2474T>A (p.Phe825Tyr)
n.2523-829A>T
n.9372T>A
5g.90716638T>CCA360397507ADGRV1c.9356T>C (p.Phe3119Ser)
c.265+40429T>C (n.265+40429T>C)
n.4815T>C
c.3163T>C
n.2500T>C
c.4085T>C
c.2053T>C
n.9369T>C
c.9353T>C (p.Phe3118Ser)
c.9275T>C (p.Phe3092Ser)
c.6659T>C (p.Phe2220Ser)
n.272-829A>G
c.9377T>C (p.Phe3126Ser)
c.9374T>C (p.Phe3125Ser)
c.9296T>C (p.Phe3099Ser)
c.9281T>C (p.Phe3094Ser)
c.2495T>C (p.Phe832Ser)
c.2474T>C (p.Phe825Ser)
n.2523-829A>G
n.9372T>C
5g.90716638T>GCA360397508ADGRV1c.9356T>G (p.Phe3119Cys)
c.265+40429T>G (n.265+40429T>G)
n.4815T>G
c.3163T>G
n.2500T>G
c.4085T>G
c.2053T>G
n.9369T>G
c.9353T>G (p.Phe3118Cys)
c.9275T>G (p.Phe3092Cys)
c.6659T>G (p.Phe2220Cys)
n.272-829A>C
c.9377T>G (p.Phe3126Cys)
c.9374T>G (p.Phe3125Cys)
c.9296T>G (p.Phe3099Cys)
c.9281T>G (p.Phe3094Cys)
c.2495T>G (p.Phe832Cys)
c.2474T>G (p.Phe825Cys)
n.2523-829A>C
n.9372T>G
5g.90716639C>ACA360397510ADGRV1c.9357C>A (p.Phe3119Leu)
c.265+40430C>A (n.265+40430C>A)
n.4816C>A
c.3164C>A
n.2501C>A
c.4086C>A
c.2054C>A
n.9370C>A
c.9354C>A (p.Phe3118Leu)
c.9276C>A (p.Phe3092Leu)
c.6660C>A (p.Phe2220Leu)
n.272-830G>T
c.9378C>A (p.Phe3126Leu)
c.9375C>A (p.Phe3125Leu)
c.9297C>A (p.Phe3099Leu)
c.9282C>A (p.Phe3094Leu)
c.2496C>A (p.Phe832Leu)
c.2475C>A (p.Phe825Leu)
n.2523-830G>T
n.9373C>A
5g.90716639C>GCA360397512ADGRV1c.9357C>G (p.Phe3119Leu)
c.265+40430C>G (n.265+40430C>G)
n.4816C>G
c.3164C>G
n.2501C>G
c.4086C>G
c.2054C>G
n.9370C>G
c.9354C>G (p.Phe3118Leu)
c.9276C>G (p.Phe3092Leu)
c.6660C>G (p.Phe2220Leu)
n.272-830G>C
c.9378C>G (p.Phe3126Leu)
c.9375C>G (p.Phe3125Leu)
c.9297C>G (p.Phe3099Leu)
c.9282C>G (p.Phe3094Leu)
c.2496C>G (p.Phe832Leu)
c.2475C>G (p.Phe825Leu)
n.2523-830G>C
n.9373C>G
5g.90716639C>TCA445413760ADGRV1c.9357C>T (p.Phe3119=)
c.265+40430C>T (n.265+40430C>T)
n.4816C>T
c.3164C>T
n.2501C>T
c.4086C>T
c.2054C>T
n.9370C>T
c.9354C>T (p.Phe3118=)
c.9276C>T (p.Phe3092=)
c.6660C>T (p.Phe2220=)
n.272-830G>A
c.9378C>T (p.Phe3126=)
c.9375C>T (p.Phe3125=)
c.9297C>T (p.Phe3099=)
c.9282C>T (p.Phe3094=)
c.2496C>T (p.Phe832=)
c.2475C>T (p.Phe825=)
n.2523-830G>A
n.9373C>T
5g.90716640A>CCA360397514ADGRV1c.9358A>C (p.Ile3120Leu)
c.265+40431A>C (n.265+40431A>C)
n.4817A>C
c.3165A>C
n.2502A>C
c.4087A>C
c.2055A>C
n.9371A>C
c.9355A>C (p.Ile3119Leu)
c.9277A>C (p.Ile3093Leu)
c.6661A>C (p.Ile2221Leu)
n.272-831T>G
c.9379A>C (p.Ile3127Leu)
c.9376A>C (p.Ile3126Leu)
c.9298A>C (p.Ile3100Leu)
c.9283A>C (p.Ile3095Leu)
c.2497A>C (p.Ile833Leu)
c.2476A>C (p.Ile826Leu)
n.2523-831T>G
n.9374A>C
5g.90716640A>GCA360397515ADGRV1c.9358A>G (p.Ile3120Val)
c.265+40431A>G (n.265+40431A>G)
n.4817A>G
c.3165A>G
n.2502A>G
c.4087A>G
c.2055A>G
n.9371A>G
c.9355A>G (p.Ile3119Val)
c.9277A>G (p.Ile3093Val)
c.6661A>G (p.Ile2221Val)
n.272-831T>C
c.9379A>G (p.Ile3127Val)
c.9376A>G (p.Ile3126Val)
c.9298A>G (p.Ile3100Val)
c.9283A>G (p.Ile3095Val)
c.2497A>G (p.Ile833Val)
c.2476A>G (p.Ile826Val)
n.2523-831T>C
n.9374A>G
5g.90716640A>TCA360397517ADGRV1c.9358A>T (p.Ile3120Phe)
c.265+40431A>T (n.265+40431A>T)
n.4817A>T
c.3165A>T
n.2502A>T
c.4087A>T
c.2055A>T
n.9371A>T
c.9355A>T (p.Ile3119Phe)
c.9277A>T (p.Ile3093Phe)
c.6661A>T (p.Ile2221Phe)
n.272-831T>A
c.9379A>T (p.Ile3127Phe)
c.9376A>T (p.Ile3126Phe)
c.9298A>T (p.Ile3100Phe)
c.9283A>T (p.Ile3095Phe)
c.2497A>T (p.Ile833Phe)
c.2476A>T (p.Ile826Phe)
n.2523-831T>A
n.9374A>T
5g.90716641T>ACA360397519ADGRV1c.9359T>A (p.Ile3120Asn)
c.265+40432T>A (n.265+40432T>A)
n.4818T>A
c.3166T>A
n.2503T>A
c.4088T>A
c.2056T>A
n.9372T>A
c.9356T>A (p.Ile3119Asn)
c.9278T>A (p.Ile3093Asn)
c.6662T>A (p.Ile2221Asn)
n.272-832A>T
c.9380T>A (p.Ile3127Asn)
c.9377T>A (p.Ile3126Asn)
c.9299T>A (p.Ile3100Asn)
c.9284T>A (p.Ile3095Asn)
c.2498T>A (p.Ile833Asn)
c.2477T>A (p.Ile826Asn)
n.2523-832A>T
n.9375T>A
5g.90716641T>CCA360397520ADGRV1c.9359T>C (p.Ile3120Thr)
c.265+40432T>C (n.265+40432T>C)
n.4818T>C
c.3166T>C
n.2503T>C
c.4088T>C
c.2056T>C
n.9372T>C
c.9356T>C (p.Ile3119Thr)
c.9278T>C (p.Ile3093Thr)
c.6662T>C (p.Ile2221Thr)
n.272-832A>G
c.9380T>C (p.Ile3127Thr)
c.9377T>C (p.Ile3126Thr)
c.9299T>C (p.Ile3100Thr)
c.9284T>C (p.Ile3095Thr)
c.2498T>C (p.Ile833Thr)
c.2477T>C (p.Ile826Thr)
n.2523-832A>G
n.9375T>C
dbSNP gnomAD v2 gnomAD v4
5g.90716641T>GCA360397521ADGRV1c.9359T>G (p.Ile3120Ser)
c.265+40432T>G (n.265+40432T>G)
n.4818T>G
c.3166T>G
n.2503T>G
c.4088T>G
c.2056T>G
n.9372T>G
c.9356T>G (p.Ile3119Ser)
c.9278T>G (p.Ile3093Ser)
c.6662T>G (p.Ile2221Ser)
n.272-832A>C
c.9380T>G (p.Ile3127Ser)
c.9377T>G (p.Ile3126Ser)
c.9299T>G (p.Ile3100Ser)
c.9284T>G (p.Ile3095Ser)
c.2498T>G (p.Ile833Ser)
c.2477T>G (p.Ile826Ser)
n.2523-832A>C
n.9375T>G
5g.90716641T=CA1562870617ADGRV1c.9359T= (p.Ile3120=)
c.265+40432T= (n.265+40432T=)
n.4818T=
c.3166T=
n.2503T=
c.4088T=
c.2056T=
n.9372T=
c.9356T= (p.Ile3119=)
c.9278T= (p.Ile3093=)
c.6662T= (p.Ile2221=)
n.272-832A=
c.9380T= (p.Ile3127=)
c.9377T= (p.Ile3126=)
c.9299T= (p.Ile3100=)
c.9284T= (p.Ile3095=)
c.2498T= (p.Ile833=)
c.2477T= (p.Ile826=)
n.2523-832A=
n.9375T=
5g.90716642T>ACA445413773ADGRV1c.9360T>A (p.Ile3120=)
c.265+40433T>A (n.265+40433T>A)
n.4819T>A
c.3167T>A
n.2504T>A
c.4089T>A
c.2057T>A
n.9373T>A
c.9357T>A (p.Ile3119=)
c.9279T>A (p.Ile3093=)
c.6663T>A (p.Ile2221=)
n.272-833A>T
c.9381T>A (p.Ile3127=)
c.9378T>A (p.Ile3126=)
c.9300T>A (p.Ile3100=)
c.9285T>A (p.Ile3095=)
c.2499T>A (p.Ile833=)
c.2478T>A (p.Ile826=)
n.2523-833A>T
n.9376T>A
5g.90716642T>CCA445413769ADGRV1c.9360T>C (p.Ile3120=)
c.265+40433T>C (n.265+40433T>C)
n.4819T>C
c.3167T>C
n.2504T>C
c.4089T>C
c.2057T>C
n.9373T>C
c.9357T>C (p.Ile3119=)
c.9279T>C (p.Ile3093=)
c.6663T>C (p.Ile2221=)
n.272-833A>G
c.9381T>C (p.Ile3127=)
c.9378T>C (p.Ile3126=)
c.9300T>C (p.Ile3100=)
c.9285T>C (p.Ile3095=)
c.2499T>C (p.Ile833=)
c.2478T>C (p.Ile826=)
n.2523-833A>G
n.9376T>C
5g.90716642T>GCA360397522ADGRV1c.9360T>G (p.Ile3120Met)
c.265+40433T>G (n.265+40433T>G)
n.4819T>G
c.3167T>G
n.2504T>G
c.4089T>G
c.2057T>G
n.9373T>G
c.9357T>G (p.Ile3119Met)
c.9279T>G (p.Ile3093Met)
c.6663T>G (p.Ile2221Met)
n.272-833A>C
c.9381T>G (p.Ile3127Met)
c.9378T>G (p.Ile3126Met)
c.9300T>G (p.Ile3100Met)
c.9285T>G (p.Ile3095Met)
c.2499T>G (p.Ile833Met)
c.2478T>G (p.Ile826Met)
n.2523-833A>C
n.9376T>G
5g.90716643G>ACA360397523ADGRV1c.9361G>A (p.Val3121Met)
c.265+40434G>A (n.265+40434G>A)
n.4820G>A
c.3168G>A
n.2505G>A
c.4090G>A
c.2058G>A
n.9374G>A
c.9358G>A (p.Val3120Met)
c.9280G>A (p.Val3094Met)
c.6664G>A (p.Val2222Met)
n.272-834C>T
c.9382G>A (p.Val3128Met)
c.9379G>A (p.Val3127Met)
c.9301G>A (p.Val3101Met)
c.9286G>A (p.Val3096Met)
c.2500G>A (p.Val834Met)
c.2479G>A (p.Val827Met)
n.2523-834C>T
n.9377G>A
dbSNP gnomAD v3 gnomAD v4
5g.90716643G>CCA360397527ADGRV1c.9361G>C (p.Val3121Leu)
c.265+40434G>C (n.265+40434G>C)
n.4820G>C
c.3168G>C
n.2505G>C
c.4090G>C
c.2058G>C
n.9374G>C
c.9358G>C (p.Val3120Leu)
c.9280G>C (p.Val3094Leu)
c.6664G>C (p.Val2222Leu)
n.272-834C>G
c.9382G>C (p.Val3128Leu)
c.9379G>C (p.Val3127Leu)
c.9301G>C (p.Val3101Leu)
c.9286G>C (p.Val3096Leu)
c.2500G>C (p.Val834Leu)
c.2479G>C (p.Val827Leu)
n.2523-834C>G
n.9377G>C
5g.90716643G=CA1562870618ADGRV1c.9361G= (p.Val3121=)
c.265+40434G= (n.265+40434G=)
n.4820G=
c.3168G=
n.2505G=
c.4090G=
c.2058G=
n.9374G=
c.9358G= (p.Val3120=)
c.9280G= (p.Val3094=)
c.6664G= (p.Val2222=)
n.272-834C=
c.9382G= (p.Val3128=)
c.9379G= (p.Val3127=)
c.9301G= (p.Val3101=)
c.9286G= (p.Val3096=)
c.2500G= (p.Val834=)
c.2479G= (p.Val827=)
n.2523-834C=
n.9377G=
5g.90716643G>TCA360397525ADGRV1c.9361G>T (p.Val3121Leu)
c.265+40434G>T (n.265+40434G>T)
n.4820G>T
c.3168G>T
n.2505G>T
c.4090G>T
c.2058G>T
n.9374G>T
c.9358G>T (p.Val3120Leu)
c.9280G>T (p.Val3094Leu)
c.6664G>T (p.Val2222Leu)
n.272-834C>A
c.9382G>T (p.Val3128Leu)
c.9379G>T (p.Val3127Leu)
c.9301G>T (p.Val3101Leu)
c.9286G>T (p.Val3096Leu)
c.2500G>T (p.Val834Leu)
c.2479G>T (p.Val827Leu)
n.2523-834C>A
n.9377G>T
COSMIC
5g.90716644T>ACA360397529ADGRV1c.9362T>A (p.Val3121Glu)
c.265+40435T>A (n.265+40435T>A)
n.4821T>A
c.3169T>A
n.2506T>A
c.4091T>A
c.2059T>A
n.9375T>A
c.9359T>A (p.Val3120Glu)
c.9281T>A (p.Val3094Glu)
c.6665T>A (p.Val2222Glu)
n.272-835A>T
c.9383T>A (p.Val3128Glu)
c.9380T>A (p.Val3127Glu)
c.9302T>A (p.Val3101Glu)
c.9287T>A (p.Val3096Glu)
c.2501T>A (p.Val834Glu)
c.2480T>A (p.Val827Glu)
n.2523-835A>T
n.9378T>A
5g.90716644T>CCA360397530ADGRV1c.9362T>C (p.Val3121Ala)
c.265+40435T>C (n.265+40435T>C)
n.4821T>C
c.3169T>C
n.2506T>C
c.4091T>C
c.2059T>C
n.9375T>C
c.9359T>C (p.Val3120Ala)
c.9281T>C (p.Val3094Ala)
c.6665T>C (p.Val2222Ala)
n.272-835A>G
c.9383T>C (p.Val3128Ala)
c.9380T>C (p.Val3127Ala)
c.9302T>C (p.Val3101Ala)
c.9287T>C (p.Val3096Ala)
c.2501T>C (p.Val834Ala)
c.2480T>C (p.Val827Ala)
n.2523-835A>G
n.9378T>C
gnomAD v4
5g.90716644T>GCA360397531ADGRV1c.9362T>G (p.Val3121Gly)
c.265+40435T>G (n.265+40435T>G)
n.4821T>G
c.3169T>G
n.2506T>G
c.4091T>G
c.2059T>G
n.9375T>G
c.9359T>G (p.Val3120Gly)
c.9281T>G (p.Val3094Gly)
c.6665T>G (p.Val2222Gly)
n.272-835A>C
c.9383T>G (p.Val3128Gly)
c.9380T>G (p.Val3127Gly)
c.9302T>G (p.Val3101Gly)
c.9287T>G (p.Val3096Gly)
c.2501T>G (p.Val834Gly)
c.2480T>G (p.Val827Gly)
n.2523-835A>C
n.9378T>G
5g.90716645G>ACA445413775ADGRV1c.9363G>A (p.Val3121=)
c.265+40436G>A (n.265+40436G>A)
n.4822G>A
c.3170G>A
n.2507G>A
c.4092G>A
c.2060G>A
n.9376G>A
c.9360G>A (p.Val3120=)
c.9282G>A (p.Val3094=)
c.6666G>A (p.Val2222=)
n.272-836C>T
c.9384G>A (p.Val3128=)
c.9381G>A (p.Val3127=)
c.9303G>A (p.Val3101=)
c.9288G>A (p.Val3096=)
c.2502G>A (p.Val834=)
c.2481G>A (p.Val827=)
n.2523-836C>T
n.9379G>A
5g.90716645G>CCA445413777ADGRV1c.9363G>C (p.Val3121=)
c.265+40436G>C (n.265+40436G>C)
n.4822G>C
c.3170G>C
n.2507G>C
c.4092G>C
c.2060G>C
n.9376G>C
c.9360G>C (p.Val3120=)
c.9282G>C (p.Val3094=)
c.6666G>C (p.Val2222=)
n.272-836C>G
c.9384G>C (p.Val3128=)
c.9381G>C (p.Val3127=)
c.9303G>C (p.Val3101=)
c.9288G>C (p.Val3096=)
c.2502G>C (p.Val834=)
c.2481G>C (p.Val827=)
n.2523-836C>G
n.9379G>C
5g.90716645G>TCA445413778ADGRV1c.9363G>T (p.Val3121=)
c.265+40436G>T (n.265+40436G>T)
n.4822G>T
c.3170G>T
n.2507G>T
c.4092G>T
c.2060G>T
n.9376G>T
c.9360G>T (p.Val3120=)
c.9282G>T (p.Val3094=)
c.6666G>T (p.Val2222=)
n.272-836C>A
c.9384G>T (p.Val3128=)
c.9381G>T (p.Val3127=)
c.9303G>T (p.Val3101=)
c.9288G>T (p.Val3096=)
c.2502G>T (p.Val834=)
c.2481G>T (p.Val827=)
n.2523-836C>A
n.9379G>T
5g.90716646A>CCA360397533ADGRV1c.9364A>C (p.Thr3122Pro)
c.265+40437A>C (n.265+40437A>C)
n.4823A>C
c.3171A>C
n.2508A>C
c.4093A>C
c.2061A>C
n.9377A>C
c.9361A>C (p.Thr3121Pro)
c.9283A>C (p.Thr3095Pro)
c.6667A>C (p.Thr2223Pro)
n.272-837T>G
c.9385A>C (p.Thr3129Pro)
c.9382A>C (p.Thr3128Pro)
c.9304A>C (p.Thr3102Pro)
c.9289A>C (p.Thr3097Pro)
c.2503A>C (p.Thr835Pro)
c.2482A>C (p.Thr828Pro)
n.2523-837T>G
n.9380A>C
5g.90716646A>GCA360397535ADGRV1c.9364A>G (p.Thr3122Ala)
c.265+40437A>G (n.265+40437A>G)
n.4823A>G
c.3171A>G
n.2508A>G
c.4093A>G
c.2061A>G
n.9377A>G
c.9361A>G (p.Thr3121Ala)
c.9283A>G (p.Thr3095Ala)
c.6667A>G (p.Thr2223Ala)
n.272-837T>C
c.9385A>G (p.Thr3129Ala)
c.9382A>G (p.Thr3128Ala)
c.9304A>G (p.Thr3102Ala)
c.9289A>G (p.Thr3097Ala)
c.2503A>G (p.Thr835Ala)
c.2482A>G (p.Thr828Ala)
n.2523-837T>C
n.9380A>G
5g.90716646A>TCA360397536ADGRV1c.9364A>T (p.Thr3122Ser)
c.265+40437A>T (n.265+40437A>T)
n.4823A>T
c.3171A>T
n.2508A>T
c.4093A>T
c.2061A>T
n.9377A>T
c.9361A>T (p.Thr3121Ser)
c.9283A>T (p.Thr3095Ser)
c.6667A>T (p.Thr2223Ser)
n.272-837T>A
c.9385A>T (p.Thr3129Ser)
c.9382A>T (p.Thr3128Ser)
c.9304A>T (p.Thr3102Ser)
c.9289A>T (p.Thr3097Ser)
c.2503A>T (p.Thr835Ser)
c.2482A>T (p.Thr828Ser)
n.2523-837T>A
n.9380A>T
5g.90716647C>ACA360397538ADGRV1c.9365C>A (p.Thr3122Lys)
c.265+40438C>A (n.265+40438C>A)
n.4824C>A
c.3172C>A
n.2509C>A
c.4094C>A
c.2062C>A
n.9378C>A
c.9362C>A (p.Thr3121Lys)
c.9284C>A (p.Thr3095Lys)
c.6668C>A (p.Thr2223Lys)
n.272-838G>T
c.9386C>A (p.Thr3129Lys)
c.9383C>A (p.Thr3128Lys)
c.9305C>A (p.Thr3102Lys)
c.9290C>A (p.Thr3097Lys)
c.2504C>A (p.Thr835Lys)
c.2483C>A (p.Thr828Lys)
n.2523-838G>T
n.9381C>A
5g.90716647C=CA1562870619ADGRV1c.9365C= (p.Thr3122=)
c.265+40438C= (n.265+40438C=)
n.4824C=
c.3172C=
n.2509C=
c.4094C=
c.2062C=
n.9378C=
c.9362C= (p.Thr3121=)
c.9284C= (p.Thr3095=)
c.6668C= (p.Thr2223=)
n.272-838G=
c.9386C= (p.Thr3129=)
c.9383C= (p.Thr3128=)
c.9305C= (p.Thr3102=)
c.9290C= (p.Thr3097=)
c.2504C= (p.Thr835=)
c.2483C= (p.Thr828=)
n.2523-838G=
n.9381C=
5g.90716647C>GCA360397539ADGRV1c.9365C>G (p.Thr3122Arg)
c.265+40438C>G (n.265+40438C>G)
n.4824C>G
c.3172C>G
n.2509C>G
c.4094C>G
c.2062C>G
n.9378C>G
c.9362C>G (p.Thr3121Arg)
c.9284C>G (p.Thr3095Arg)
c.6668C>G (p.Thr2223Arg)
n.272-838G>C
c.9386C>G (p.Thr3129Arg)
c.9383C>G (p.Thr3128Arg)
c.9305C>G (p.Thr3102Arg)
c.9290C>G (p.Thr3097Arg)
c.2504C>G (p.Thr835Arg)
c.2483C>G (p.Thr828Arg)
n.2523-838G>C
n.9381C>G
5g.90716647C>TCA360397540ADGRV1c.9365C>T (p.Thr3122Ile)
c.265+40438C>T (n.265+40438C>T)
n.4824C>T
c.3172C>T
n.2509C>T
c.4094C>T
c.2062C>T
n.9378C>T
c.9362C>T (p.Thr3121Ile)
c.9284C>T (p.Thr3095Ile)
c.6668C>T (p.Thr2223Ile)
n.272-838G>A
c.9386C>T (p.Thr3129Ile)
c.9383C>T (p.Thr3128Ile)
c.9305C>T (p.Thr3102Ile)
c.9290C>T (p.Thr3097Ile)
c.2504C>T (p.Thr835Ile)
c.2483C>T (p.Thr828Ile)
n.2523-838G>A
n.9381C>T
dbSNP gnomAD v3 gnomAD v4
5g.90716648A=CA1562870620ADGRV1c.9366A= (p.Thr3122=)
c.265+40439A= (n.265+40439A=)
n.4825A=
c.3173A=
n.2510A=
c.4095A=
c.2063A=
n.9379A=
c.9363A= (p.Thr3121=)
c.9285A= (p.Thr3095=)
c.6669A= (p.Thr2223=)
n.272-839T=
c.9387A= (p.Thr3129=)
c.9384A= (p.Thr3128=)
c.9306A= (p.Thr3102=)
c.9291A= (p.Thr3097=)
c.2505A= (p.Thr835=)
c.2484A= (p.Thr828=)
n.2523-839T=
n.9382A=
5g.90716648A>CCA445413785ADGRV1c.9366A>C (p.Thr3122=)
c.265+40439A>C (n.265+40439A>C)
n.4825A>C
c.3173A>C
n.2510A>C
c.4095A>C
c.2063A>C
n.9379A>C
c.9363A>C (p.Thr3121=)
c.9285A>C (p.Thr3095=)
c.6669A>C (p.Thr2223=)
n.272-839T>G
c.9387A>C (p.Thr3129=)
c.9384A>C (p.Thr3128=)
c.9306A>C (p.Thr3102=)
c.9291A>C (p.Thr3097=)
c.2505A>C (p.Thr835=)
c.2484A>C (p.Thr828=)
n.2523-839T>G
n.9382A>C
5g.90716648A>GCA202910ADGRV1c.9366A>G (p.Thr3122=)
c.265+40439A>G (n.265+40439A>G)
n.4825A>G
c.3173A>G
n.2510A>G
c.4095A>G
c.2063A>G
n.9379A>G
c.9363A>G (p.Thr3121=)
c.9285A>G (p.Thr3095=)
c.6669A>G (p.Thr2223=)
n.272-839T>C
c.9387A>G (p.Thr3129=)
c.9384A>G (p.Thr3128=)
c.9306A>G (p.Thr3102=)
c.9291A>G (p.Thr3097=)
c.2505A>G (p.Thr835=)
c.2484A>G (p.Thr828=)
n.2523-839T>C
n.9382A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716648A>TCA445413788ADGRV1c.9366A>T (p.Thr3122=)
c.265+40439A>T (n.265+40439A>T)
n.4825A>T
c.3173A>T
n.2510A>T
c.4095A>T
c.2063A>T
n.9379A>T
c.9363A>T (p.Thr3121=)
c.9285A>T (p.Thr3095=)
c.6669A>T (p.Thr2223=)
n.272-839T>A
c.9387A>T (p.Thr3129=)
c.9384A>T (p.Thr3128=)
c.9306A>T (p.Thr3102=)
c.9291A>T (p.Thr3097=)
c.2505A>T (p.Thr835=)
c.2484A>T (p.Thr828=)
n.2523-839T>A
n.9382A>T
5g.90716649G>ACA360397545ADGRV1c.9367G>A (p.Glu3123Lys)
c.265+40440G>A (n.265+40440G>A)
n.4826G>A
c.3174G>A
n.2511G>A
c.4096G>A
c.2064G>A
n.9380G>A
c.9364G>A (p.Glu3122Lys)
c.9286G>A (p.Glu3096Lys)
c.6670G>A (p.Glu2224Lys)
n.272-840C>T
c.9388G>A (p.Glu3130Lys)
c.9385G>A (p.Glu3129Lys)
c.9307G>A (p.Glu3103Lys)
c.9292G>A (p.Glu3098Lys)
c.2506G>A (p.Glu836Lys)
c.2485G>A (p.Glu829Lys)
n.2523-840C>T
n.9383G>A
gnomAD v4
5g.90716649G>CCA360397546ADGRV1c.9367G>C (p.Glu3123Gln)
c.265+40440G>C (n.265+40440G>C)
n.4826G>C
c.3174G>C
n.2511G>C
c.4096G>C
c.2064G>C
n.9380G>C
c.9364G>C (p.Glu3122Gln)
c.9286G>C (p.Glu3096Gln)
c.6670G>C (p.Glu2224Gln)
n.272-840C>G
c.9388G>C (p.Glu3130Gln)
c.9385G>C (p.Glu3129Gln)
c.9307G>C (p.Glu3103Gln)
c.9292G>C (p.Glu3098Gln)
c.2506G>C (p.Glu836Gln)
c.2485G>C (p.Glu829Gln)
n.2523-840C>G
n.9383G>C
gnomAD v4
5g.90716649G>TCA360397543ADGRV1c.9367G>T (p.Glu3123Ter)
c.265+40440G>T (n.265+40440G>T)
n.4826G>T
c.3174G>T
n.2511G>T
c.4096G>T
c.2064G>T
n.9380G>T
c.9364G>T (p.Glu3122Ter)
c.9286G>T (p.Glu3096Ter)
c.6670G>T (p.Glu2224Ter)
n.272-840C>A
c.9388G>T (p.Glu3130Ter)
c.9385G>T (p.Glu3129Ter)
c.9307G>T (p.Glu3103Ter)
c.9292G>T (p.Glu3098Ter)
c.2506G>T (p.Glu836Ter)
c.2485G>T (p.Glu829Ter)
n.2523-840C>A
n.9383G>T

Number of alleles fetched