Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90716601C>ACA360397376ADGRV1c.9319C>A (p.Pro3107Thr)
c.265+40392C>A (n.265+40392C>A)
n.4778C>A
c.3126C>A
n.2463C>A
c.4048C>A
c.2016C>A
n.9332C>A
c.9316C>A (p.Pro3106Thr)
c.9238C>A (p.Pro3080Thr)
c.6622C>A (p.Pro2208Thr)
n.272-792G>T
c.9340C>A (p.Pro3114Thr)
c.9337C>A (p.Pro3113Thr)
c.9259C>A (p.Pro3087Thr)
c.9244C>A (p.Pro3082Thr)
c.2458C>A (p.Pro820Thr)
c.2437C>A (p.Pro813Thr)
n.2523-792G>T
n.9335C>A
5g.90716601C>GCA360397377ADGRV1c.9319C>G (p.Pro3107Ala)
c.265+40392C>G (n.265+40392C>G)
n.4778C>G
c.3126C>G
n.2463C>G
c.4048C>G
c.2016C>G
n.9332C>G
c.9316C>G (p.Pro3106Ala)
c.9238C>G (p.Pro3080Ala)
c.6622C>G (p.Pro2208Ala)
n.272-792G>C
c.9340C>G (p.Pro3114Ala)
c.9337C>G (p.Pro3113Ala)
c.9259C>G (p.Pro3087Ala)
c.9244C>G (p.Pro3082Ala)
c.2458C>G (p.Pro820Ala)
c.2437C>G (p.Pro813Ala)
n.2523-792G>C
n.9335C>G
 gnomAD v4
5g.90716601C>TCA360397379ADGRV1c.9319C>T (p.Pro3107Ser)
c.265+40392C>T (n.265+40392C>T)
n.4778C>T
c.3126C>T
n.2463C>T
c.4048C>T
c.2016C>T
n.9332C>T
c.9316C>T (p.Pro3106Ser)
c.9238C>T (p.Pro3080Ser)
c.6622C>T (p.Pro2208Ser)
n.272-792G>A
c.9340C>T (p.Pro3114Ser)
c.9337C>T (p.Pro3113Ser)
c.9259C>T (p.Pro3087Ser)
c.9244C>T (p.Pro3082Ser)
c.2458C>T (p.Pro820Ser)
c.2437C>T (p.Pro813Ser)
n.2523-792G>A
n.9335C>T
5g.90716602C>ACA360397381ADGRV1c.9320C>A (p.Pro3107His)
c.265+40393C>A (n.265+40393C>A)
n.4779C>A
c.3127C>A
n.2464C>A
c.4049C>A
c.2017C>A
n.9333C>A
c.9317C>A (p.Pro3106His)
c.9239C>A (p.Pro3080His)
c.6623C>A (p.Pro2208His)
n.272-793G>T
c.9341C>A (p.Pro3114His)
c.9338C>A (p.Pro3113His)
c.9260C>A (p.Pro3087His)
c.9245C>A (p.Pro3082His)
c.2459C>A (p.Pro820His)
c.2438C>A (p.Pro813His)
n.2523-793G>T
n.9336C>A
5g.90716602C>GCA360397382ADGRV1c.9320C>G (p.Pro3107Arg)
c.265+40393C>G (n.265+40393C>G)
n.4779C>G
c.3127C>G
n.2464C>G
c.4049C>G
c.2017C>G
n.9333C>G
c.9317C>G (p.Pro3106Arg)
c.9239C>G (p.Pro3080Arg)
c.6623C>G (p.Pro2208Arg)
n.272-793G>C
c.9341C>G (p.Pro3114Arg)
c.9338C>G (p.Pro3113Arg)
c.9260C>G (p.Pro3087Arg)
c.9245C>G (p.Pro3082Arg)
c.2459C>G (p.Pro820Arg)
c.2438C>G (p.Pro813Arg)
n.2523-793G>C
n.9336C>G
 gnomAD v4
5g.90716602C>TCA360397384ADGRV1c.9320C>T (p.Pro3107Leu)
c.265+40393C>T (n.265+40393C>T)
n.4779C>T
c.3127C>T
n.2464C>T
c.4049C>T
c.2017C>T
n.9333C>T
c.9317C>T (p.Pro3106Leu)
c.9239C>T (p.Pro3080Leu)
c.6623C>T (p.Pro2208Leu)
n.272-793G>A
c.9341C>T (p.Pro3114Leu)
c.9338C>T (p.Pro3113Leu)
c.9260C>T (p.Pro3087Leu)
c.9245C>T (p.Pro3082Leu)
c.2459C>T (p.Pro820Leu)
c.2438C>T (p.Pro813Leu)
n.2523-793G>A
n.9336C>T
5g.90716603T>ACA445413639ADGRV1c.9321T>A (p.Pro3107=)
c.265+40394T>A (n.265+40394T>A)
n.4780T>A
c.3128T>A
n.2465T>A
c.4050T>A
c.2018T>A
n.9334T>A
c.9318T>A (p.Pro3106=)
c.9240T>A (p.Pro3080=)
c.6624T>A (p.Pro2208=)
n.272-794A>T
c.9342T>A (p.Pro3114=)
c.9339T>A (p.Pro3113=)
c.9261T>A (p.Pro3087=)
c.9246T>A (p.Pro3082=)
c.2460T>A (p.Pro820=)
c.2439T>A (p.Pro813=)
n.2523-794A>T
n.9337T>A
5g.90716603T>CCA445413642ADGRV1c.9321T>C (p.Pro3107=)
c.265+40394T>C (n.265+40394T>C)
n.4780T>C
c.3128T>C
n.2465T>C
c.4050T>C
c.2018T>C
n.9334T>C
c.9318T>C (p.Pro3106=)
c.9240T>C (p.Pro3080=)
c.6624T>C (p.Pro2208=)
n.272-794A>G
c.9342T>C (p.Pro3114=)
c.9339T>C (p.Pro3113=)
c.9261T>C (p.Pro3087=)
c.9246T>C (p.Pro3082=)
c.2460T>C (p.Pro820=)
c.2439T>C (p.Pro813=)
n.2523-794A>G
n.9337T>C
 dbSNP
5g.90716603T>GCA445413643ADGRV1c.9321T>G (p.Pro3107=)
c.265+40394T>G (n.265+40394T>G)
n.4780T>G
c.3128T>G
n.2465T>G
c.4050T>G
c.2018T>G
n.9334T>G
c.9318T>G (p.Pro3106=)
c.9240T>G (p.Pro3080=)
c.6624T>G (p.Pro2208=)
n.272-794A>C
c.9342T>G (p.Pro3114=)
c.9339T>G (p.Pro3113=)
c.9261T>G (p.Pro3087=)
c.9246T>G (p.Pro3082=)
c.2460T>G (p.Pro820=)
c.2439T>G (p.Pro813=)
n.2523-794A>C
n.9337T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90716603T=CA1562870607ADGRV1c.9321T= (p.Pro3107=)
c.265+40394T= (n.265+40394T=)
n.4780T=
c.3128T=
n.2465T=
c.4050T=
c.2018T=
n.9334T=
c.9318T= (p.Pro3106=)
c.9240T= (p.Pro3080=)
c.6624T= (p.Pro2208=)
n.272-794A=
c.9342T= (p.Pro3114=)
c.9339T= (p.Pro3113=)
c.9261T= (p.Pro3087=)
c.9246T= (p.Pro3082=)
c.2460T= (p.Pro820=)
c.2439T= (p.Pro813=)
n.2523-794A=
n.9337T=
5g.90716604G>ACA360397386ADGRV1c.9322G>A (p.Ala3108Thr)
c.265+40395G>A (n.265+40395G>A)
n.4781G>A
c.3129G>A
n.2466G>A
c.4051G>A
c.2019G>A
n.9335G>A
c.9319G>A (p.Ala3107Thr)
c.9241G>A (p.Ala3081Thr)
c.6625G>A (p.Ala2209Thr)
n.272-795C>T
c.9343G>A (p.Ala3115Thr)
c.9340G>A (p.Ala3114Thr)
c.9262G>A (p.Ala3088Thr)
c.9247G>A (p.Ala3083Thr)
c.2461G>A (p.Ala821Thr)
c.2440G>A (p.Ala814Thr)
n.2523-795C>T
n.9338G>A
 gnomAD v4
5g.90716604G>CCA360397388ADGRV1c.9322G>C (p.Ala3108Pro)
c.265+40395G>C (n.265+40395G>C)
n.4781G>C
c.3129G>C
n.2466G>C
c.4051G>C
c.2019G>C
n.9335G>C
c.9319G>C (p.Ala3107Pro)
c.9241G>C (p.Ala3081Pro)
c.6625G>C (p.Ala2209Pro)
n.272-795C>G
c.9343G>C (p.Ala3115Pro)
c.9340G>C (p.Ala3114Pro)
c.9262G>C (p.Ala3088Pro)
c.9247G>C (p.Ala3083Pro)
c.2461G>C (p.Ala821Pro)
c.2440G>C (p.Ala814Pro)
n.2523-795C>G
n.9338G>C
5g.90716604G>TCA360397389ADGRV1c.9322G>T (p.Ala3108Ser)
c.265+40395G>T (n.265+40395G>T)
n.4781G>T
c.3129G>T
n.2466G>T
c.4051G>T
c.2019G>T
n.9335G>T
c.9319G>T (p.Ala3107Ser)
c.9241G>T (p.Ala3081Ser)
c.6625G>T (p.Ala2209Ser)
n.272-795C>A
c.9343G>T (p.Ala3115Ser)
c.9340G>T (p.Ala3114Ser)
c.9262G>T (p.Ala3088Ser)
c.9247G>T (p.Ala3083Ser)
c.2461G>T (p.Ala821Ser)
c.2440G>T (p.Ala814Ser)
n.2523-795C>A
n.9338G>T
5g.90716605C>ACA360397391ADGRV1c.9323C>A (p.Ala3108Glu)
c.265+40396C>A (n.265+40396C>A)
n.4782C>A
c.3130C>A
n.2467C>A
c.4052C>A
c.2020C>A
n.9336C>A
c.9320C>A (p.Ala3107Glu)
c.9242C>A (p.Ala3081Glu)
c.6626C>A (p.Ala2209Glu)
n.272-796G>T
c.9344C>A (p.Ala3115Glu)
c.9341C>A (p.Ala3114Glu)
c.9263C>A (p.Ala3088Glu)
c.9248C>A (p.Ala3083Glu)
c.2462C>A (p.Ala821Glu)
c.2441C>A (p.Ala814Glu)
n.2523-796G>T
n.9339C>A
5g.90716605C>GCA360397393ADGRV1c.9323C>G (p.Ala3108Gly)
c.265+40396C>G (n.265+40396C>G)
n.4782C>G
c.3130C>G
n.2467C>G
c.4052C>G
c.2020C>G
n.9336C>G
c.9320C>G (p.Ala3107Gly)
c.9242C>G (p.Ala3081Gly)
c.6626C>G (p.Ala2209Gly)
n.272-796G>C
c.9344C>G (p.Ala3115Gly)
c.9341C>G (p.Ala3114Gly)
c.9263C>G (p.Ala3088Gly)
c.9248C>G (p.Ala3083Gly)
c.2462C>G (p.Ala821Gly)
c.2441C>G (p.Ala814Gly)
n.2523-796G>C
n.9339C>G
5g.90716605C>TCA360397395ADGRV1c.9323C>T (p.Ala3108Val)
c.265+40396C>T (n.265+40396C>T)
n.4782C>T
c.3130C>T
n.2467C>T
c.4052C>T
c.2020C>T
n.9336C>T
c.9320C>T (p.Ala3107Val)
c.9242C>T (p.Ala3081Val)
c.6626C>T (p.Ala2209Val)
n.272-796G>A
c.9344C>T (p.Ala3115Val)
c.9341C>T (p.Ala3114Val)
c.9263C>T (p.Ala3088Val)
c.9248C>T (p.Ala3083Val)
c.2462C>T (p.Ala821Val)
c.2441C>T (p.Ala814Val)
n.2523-796G>A
n.9339C>T
5g.90716606A=CA1562870608ADGRV1c.9324A= (p.Ala3108=)
c.265+40397A= (n.265+40397A=)
n.4783A=
c.3131A=
n.2468A=
c.4053A=
c.2021A=
n.9337A=
c.9321A= (p.Ala3107=)
c.9243A= (p.Ala3081=)
c.6627A= (p.Ala2209=)
n.272-797T=
c.9345A= (p.Ala3115=)
c.9342A= (p.Ala3114=)
c.9264A= (p.Ala3088=)
c.9249A= (p.Ala3083=)
c.2463A= (p.Ala821=)
c.2442A= (p.Ala814=)
n.2523-797T=
n.9340A=
5g.90716606A>CCA445413650ADGRV1c.9324A>C (p.Ala3108=)
c.265+40397A>C (n.265+40397A>C)
n.4783A>C
c.3131A>C
n.2468A>C
c.4053A>C
c.2021A>C
n.9337A>C
c.9321A>C (p.Ala3107=)
c.9243A>C (p.Ala3081=)
c.6627A>C (p.Ala2209=)
n.272-797T>G
c.9345A>C (p.Ala3115=)
c.9342A>C (p.Ala3114=)
c.9264A>C (p.Ala3088=)
c.9249A>C (p.Ala3083=)
c.2463A>C (p.Ala821=)
c.2442A>C (p.Ala814=)
n.2523-797T>G
n.9340A>C
 ClinVar dbSNP gnomAD v4
5g.90716606A>GCA445413651ADGRV1c.9324A>G (p.Ala3108=)
c.265+40397A>G (n.265+40397A>G)
n.4783A>G
c.3131A>G
n.2468A>G
c.4053A>G
c.2021A>G
n.9337A>G
c.9321A>G (p.Ala3107=)
c.9243A>G (p.Ala3081=)
c.6627A>G (p.Ala2209=)
n.272-797T>C
c.9345A>G (p.Ala3115=)
c.9342A>G (p.Ala3114=)
c.9264A>G (p.Ala3088=)
c.9249A>G (p.Ala3083=)
c.2463A>G (p.Ala821=)
c.2442A>G (p.Ala814=)
n.2523-797T>C
n.9340A>G
 gnomAD v4
5g.90716606A>TCA445413653ADGRV1c.9324A>T (p.Ala3108=)
c.265+40397A>T (n.265+40397A>T)
n.4783A>T
c.3131A>T
n.2468A>T
c.4053A>T
c.2021A>T
n.9337A>T
c.9321A>T (p.Ala3107=)
c.9243A>T (p.Ala3081=)
c.6627A>T (p.Ala2209=)
n.272-797T>A
c.9345A>T (p.Ala3115=)
c.9342A>T (p.Ala3114=)
c.9264A>T (p.Ala3088=)
c.9249A>T (p.Ala3083=)
c.2463A>T (p.Ala821=)
c.2442A>T (p.Ala814=)
n.2523-797T>A
n.9340A>T
5g.90716607C>ACA360397398ADGRV1c.9325C>A (p.Gln3109Lys)
c.265+40398C>A (n.265+40398C>A)
n.4784C>A
c.3132C>A
n.2469C>A
c.4054C>A
c.2022C>A
n.9338C>A
c.9322C>A (p.Gln3108Lys)
c.9244C>A (p.Gln3082Lys)
c.6628C>A (p.Gln2210Lys)
n.272-798G>T
c.9346C>A (p.Gln3116Lys)
c.9343C>A (p.Gln3115Lys)
c.9265C>A (p.Gln3089Lys)
c.9250C>A (p.Gln3084Lys)
c.2464C>A (p.Gln822Lys)
c.2443C>A (p.Gln815Lys)
n.2523-798G>T
n.9341C>A
5g.90716607C>GCA360397400ADGRV1c.9325C>G (p.Gln3109Glu)
c.265+40398C>G (n.265+40398C>G)
n.4784C>G
c.3132C>G
n.2469C>G
c.4054C>G
c.2022C>G
n.9338C>G
c.9322C>G (p.Gln3108Glu)
c.9244C>G (p.Gln3082Glu)
c.6628C>G (p.Gln2210Glu)
n.272-798G>C
c.9346C>G (p.Gln3116Glu)
c.9343C>G (p.Gln3115Glu)
c.9265C>G (p.Gln3089Glu)
c.9250C>G (p.Gln3084Glu)
c.2464C>G (p.Gln822Glu)
c.2443C>G (p.Gln815Glu)
n.2523-798G>C
n.9341C>G
 gnomAD v4
5g.90716607C>TCA360397396ADGRV1c.9325C>T (p.Gln3109Ter)
c.265+40398C>T (n.265+40398C>T)
n.4784C>T
c.3132C>T
n.2469C>T
c.4054C>T
c.2022C>T
n.9338C>T
c.9322C>T (p.Gln3108Ter)
c.9244C>T (p.Gln3082Ter)
c.6628C>T (p.Gln2210Ter)
n.272-798G>A
c.9346C>T (p.Gln3116Ter)
c.9343C>T (p.Gln3115Ter)
c.9265C>T (p.Gln3089Ter)
c.9250C>T (p.Gln3084Ter)
c.2464C>T (p.Gln822Ter)
c.2443C>T (p.Gln815Ter)
n.2523-798G>A
n.9341C>T
 ClinVar dbSNP
5g.90716608A>CCA360397401ADGRV1c.9326A>C (p.Gln3109Pro)
c.265+40399A>C (n.265+40399A>C)
n.4785A>C
c.3133A>C
n.2470A>C
c.4055A>C
c.2023A>C
n.9339A>C
c.9323A>C (p.Gln3108Pro)
c.9245A>C (p.Gln3082Pro)
c.6629A>C (p.Gln2210Pro)
n.272-799T>G
c.9347A>C (p.Gln3116Pro)
c.9344A>C (p.Gln3115Pro)
c.9266A>C (p.Gln3089Pro)
c.9251A>C (p.Gln3084Pro)
c.2465A>C (p.Gln822Pro)
c.2444A>C (p.Gln815Pro)
n.2523-799T>G
n.9342A>C
5g.90716608A>GCA360397402ADGRV1c.9326A>G (p.Gln3109Arg)
c.265+40399A>G (n.265+40399A>G)
n.4785A>G
c.3133A>G
n.2470A>G
c.4055A>G
c.2023A>G
n.9339A>G
c.9323A>G (p.Gln3108Arg)
c.9245A>G (p.Gln3082Arg)
c.6629A>G (p.Gln2210Arg)
n.272-799T>C
c.9347A>G (p.Gln3116Arg)
c.9344A>G (p.Gln3115Arg)
c.9266A>G (p.Gln3089Arg)
c.9251A>G (p.Gln3084Arg)
c.2465A>G (p.Gln822Arg)
c.2444A>G (p.Gln815Arg)
n.2523-799T>C
n.9342A>G
5g.90716608A>TCA360397404ADGRV1c.9326A>T (p.Gln3109Leu)
c.265+40399A>T (n.265+40399A>T)
n.4785A>T
c.3133A>T
n.2470A>T
c.4055A>T
c.2023A>T
n.9339A>T
c.9323A>T (p.Gln3108Leu)
c.9245A>T (p.Gln3082Leu)
c.6629A>T (p.Gln2210Leu)
n.272-799T>A
c.9347A>T (p.Gln3116Leu)
c.9344A>T (p.Gln3115Leu)
c.9266A>T (p.Gln3089Leu)
c.9251A>T (p.Gln3084Leu)
c.2465A>T (p.Gln822Leu)
c.2444A>T (p.Gln815Leu)
n.2523-799T>A
n.9342A>T
5g.90716609A>CCA360397406ADGRV1c.9327A>C (p.Gln3109His)
c.265+40400A>C (n.265+40400A>C)
n.4786A>C
c.3134A>C
n.2471A>C
c.4056A>C
c.2024A>C
n.9340A>C
c.9324A>C (p.Gln3108His)
c.9246A>C (p.Gln3082His)
c.6630A>C (p.Gln2210His)
n.272-800T>G
c.9348A>C (p.Gln3116His)
c.9345A>C (p.Gln3115His)
c.9267A>C (p.Gln3089His)
c.9252A>C (p.Gln3084His)
c.2466A>C (p.Gln822His)
c.2445A>C (p.Gln815His)
n.2523-800T>G
n.9343A>C
5g.90716609A>GCA445413663ADGRV1c.9327A>G (p.Gln3109=)
c.265+40400A>G (n.265+40400A>G)
n.4786A>G
c.3134A>G
n.2471A>G
c.4056A>G
c.2024A>G
n.9340A>G
c.9324A>G (p.Gln3108=)
c.9246A>G (p.Gln3082=)
c.6630A>G (p.Gln2210=)
n.272-800T>C
c.9348A>G (p.Gln3116=)
c.9345A>G (p.Gln3115=)
c.9267A>G (p.Gln3089=)
c.9252A>G (p.Gln3084=)
c.2466A>G (p.Gln822=)
c.2445A>G (p.Gln815=)
n.2523-800T>C
n.9343A>G
 gnomAD v4
5g.90716609A>TCA360397408ADGRV1c.9327A>T (p.Gln3109His)
c.265+40400A>T (n.265+40400A>T)
n.4786A>T
c.3134A>T
n.2471A>T
c.4056A>T
c.2024A>T
n.9340A>T
c.9324A>T (p.Gln3108His)
c.9246A>T (p.Gln3082His)
c.6630A>T (p.Gln2210His)
n.272-800T>A
c.9348A>T (p.Gln3116His)
c.9345A>T (p.Gln3115His)
c.9267A>T (p.Gln3089His)
c.9252A>T (p.Gln3084His)
c.2466A>T (p.Gln822His)
c.2445A>T (p.Gln815His)
n.2523-800T>A
n.9343A>T
5g.90716610G>ACA360397409ADGRV1c.9328G>A (p.Gly3110Arg)
c.265+40401G>A (n.265+40401G>A)
n.4787G>A
c.3135G>A
n.2472G>A
c.4057G>A
c.2025G>A
n.9341G>A
c.9325G>A (p.Gly3109Arg)
c.9247G>A (p.Gly3083Arg)
c.6631G>A (p.Gly2211Arg)
n.272-801C>T
c.9349G>A (p.Gly3117Arg)
c.9346G>A (p.Gly3116Arg)
c.9268G>A (p.Gly3090Arg)
c.9253G>A (p.Gly3085Arg)
c.2467G>A (p.Gly823Arg)
c.2446G>A (p.Gly816Arg)
n.2523-801C>T
n.9344G>A
 dbSNP
5g.90716610G>CCA360397410ADGRV1c.9328G>C (p.Gly3110Arg)
c.265+40401G>C (n.265+40401G>C)
n.4787G>C
c.3135G>C
n.2472G>C
c.4057G>C
c.2025G>C
n.9341G>C
c.9325G>C (p.Gly3109Arg)
c.9247G>C (p.Gly3083Arg)
c.6631G>C (p.Gly2211Arg)
n.272-801C>G
c.9349G>C (p.Gly3117Arg)
c.9346G>C (p.Gly3116Arg)
c.9268G>C (p.Gly3090Arg)
c.9253G>C (p.Gly3085Arg)
c.2467G>C (p.Gly823Arg)
c.2446G>C (p.Gly816Arg)
n.2523-801C>G
n.9344G>C
5g.90716610G=CA1562870609ADGRV1c.9328G= (p.Gly3110=)
c.265+40401G= (n.265+40401G=)
n.4787G=
c.3135G=
n.2472G=
c.4057G=
c.2025G=
n.9341G=
c.9325G= (p.Gly3109=)
c.9247G= (p.Gly3083=)
c.6631G= (p.Gly2211=)
n.272-801C=
c.9349G= (p.Gly3117=)
c.9346G= (p.Gly3116=)
c.9268G= (p.Gly3090=)
c.9253G= (p.Gly3085=)
c.2467G= (p.Gly823=)
c.2446G= (p.Gly816=)
n.2523-801C=
n.9344G=
5g.90716610G>TCA360397411ADGRV1c.9328G>T (p.Gly3110Ter)
c.265+40401G>T (n.265+40401G>T)
n.4787G>T
c.3135G>T
n.2472G>T
c.4057G>T
c.2025G>T
n.9341G>T
c.9325G>T (p.Gly3109Ter)
c.9247G>T (p.Gly3083Ter)
c.6631G>T (p.Gly2211Ter)
n.272-801C>A
c.9349G>T (p.Gly3117Ter)
c.9346G>T (p.Gly3116Ter)
c.9268G>T (p.Gly3090Ter)
c.9253G>T (p.Gly3085Ter)
c.2467G>T (p.Gly823Ter)
c.2446G>T (p.Gly816Ter)
n.2523-801C>A
n.9344G>T
5g.90716611G>ACA10606765ADGRV1c.9329G>A (p.Gly3110Glu)
c.265+40402G>A (n.265+40402G>A)
n.4788G>A
c.3136G>A
n.2473G>A
c.4058G>A
c.2026G>A
n.9342G>A
c.9326G>A (p.Gly3109Glu)
c.9248G>A (p.Gly3083Glu)
c.6632G>A (p.Gly2211Glu)
n.272-802C>T
c.9350G>A (p.Gly3117Glu)
c.9347G>A (p.Gly3116Glu)
c.9269G>A (p.Gly3090Glu)
c.9254G>A (p.Gly3085Glu)
c.2468G>A (p.Gly823Glu)
c.2447G>A (p.Gly816Glu)
n.2523-802C>T
n.9345G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90716611G>CCA360397413ADGRV1c.9329G>C (p.Gly3110Ala)
c.265+40402G>C (n.265+40402G>C)
n.4788G>C
c.3136G>C
n.2473G>C
c.4058G>C
c.2026G>C
n.9342G>C
c.9326G>C (p.Gly3109Ala)
c.9248G>C (p.Gly3083Ala)
c.6632G>C (p.Gly2211Ala)
n.272-802C>G
c.9350G>C (p.Gly3117Ala)
c.9347G>C (p.Gly3116Ala)
c.9269G>C (p.Gly3090Ala)
c.9254G>C (p.Gly3085Ala)
c.2468G>C (p.Gly823Ala)
c.2447G>C (p.Gly816Ala)
n.2523-802C>G
n.9345G>C
 gnomAD v4
5g.90716611G=CA1562870610ADGRV1c.9329G= (p.Gly3110=)
c.265+40402G= (n.265+40402G=)
n.4788G=
c.3136G=
n.2473G=
c.4058G=
c.2026G=
n.9342G=
c.9326G= (p.Gly3109=)
c.9248G= (p.Gly3083=)
c.6632G= (p.Gly2211=)
n.272-802C=
c.9350G= (p.Gly3117=)
c.9347G= (p.Gly3116=)
c.9269G= (p.Gly3090=)
c.9254G= (p.Gly3085=)
c.2468G= (p.Gly823=)
c.2447G= (p.Gly816=)
n.2523-802C=
n.9345G=
5g.90716611G>TCA360397414ADGRV1c.9329G>T (p.Gly3110Val)
c.265+40402G>T (n.265+40402G>T)
n.4788G>T
c.3136G>T
n.2473G>T
c.4058G>T
c.2026G>T
n.9342G>T
c.9326G>T (p.Gly3109Val)
c.9248G>T (p.Gly3083Val)
c.6632G>T (p.Gly2211Val)
n.272-802C>A
c.9350G>T (p.Gly3117Val)
c.9347G>T (p.Gly3116Val)
c.9269G>T (p.Gly3090Val)
c.9254G>T (p.Gly3085Val)
c.2468G>T (p.Gly823Val)
c.2447G>T (p.Gly816Val)
n.2523-802C>A
n.9345G>T
5g.90716612A>CCA445413670ADGRV1c.9330A>C (p.Gly3110=)
c.265+40403A>C (n.265+40403A>C)
n.4789A>C
c.3137A>C
n.2474A>C
c.4059A>C
c.2027A>C
n.9343A>C
c.9327A>C (p.Gly3109=)
c.9249A>C (p.Gly3083=)
c.6633A>C (p.Gly2211=)
n.272-803T>G
c.9351A>C (p.Gly3117=)
c.9348A>C (p.Gly3116=)
c.9270A>C (p.Gly3090=)
c.9255A>C (p.Gly3085=)
c.2469A>C (p.Gly823=)
c.2448A>C (p.Gly816=)
n.2523-803T>G
n.9346A>C
5g.90716612A>GCA445413673ADGRV1c.9330A>G (p.Gly3110=)
c.265+40403A>G (n.265+40403A>G)
n.4789A>G
c.3137A>G
n.2474A>G
c.4059A>G
c.2027A>G
n.9343A>G
c.9327A>G (p.Gly3109=)
c.9249A>G (p.Gly3083=)
c.6633A>G (p.Gly2211=)
n.272-803T>C
c.9351A>G (p.Gly3117=)
c.9348A>G (p.Gly3116=)
c.9270A>G (p.Gly3090=)
c.9255A>G (p.Gly3085=)
c.2469A>G (p.Gly823=)
c.2448A>G (p.Gly816=)
n.2523-803T>C
n.9346A>G
 ClinVar dbSNP
5g.90716612A>TCA445413675ADGRV1c.9330A>T (p.Gly3110=)
c.265+40403A>T (n.265+40403A>T)
n.4789A>T
c.3137A>T
n.2474A>T
c.4059A>T
c.2027A>T
n.9343A>T
c.9327A>T (p.Gly3109=)
c.9249A>T (p.Gly3083=)
c.6633A>T (p.Gly2211=)
n.272-803T>A
c.9351A>T (p.Gly3117=)
c.9348A>T (p.Gly3116=)
c.9270A>T (p.Gly3090=)
c.9255A>T (p.Gly3085=)
c.2469A>T (p.Gly823=)
c.2448A>T (p.Gly816=)
n.2523-803T>A
n.9346A>T
5g.90716613T>ACA360397416ADGRV1c.9331T>A (p.Leu3111Met)
c.265+40404T>A (n.265+40404T>A)
n.4790T>A
c.3138T>A
n.2475T>A
c.4060T>A
c.2028T>A
n.9344T>A
c.9328T>A (p.Leu3110Met)
c.9250T>A (p.Leu3084Met)
c.6634T>A (p.Leu2212Met)
n.272-804A>T
c.9352T>A (p.Leu3118Met)
c.9349T>A (p.Leu3117Met)
c.9271T>A (p.Leu3091Met)
c.9256T>A (p.Leu3086Met)
c.2470T>A (p.Leu824Met)
c.2449T>A (p.Leu817Met)
n.2523-804A>T
n.9347T>A
5g.90716613T>CCA445413678ADGRV1c.9331T>C (p.Leu3111=)
c.265+40404T>C (n.265+40404T>C)
n.4790T>C
c.3138T>C
n.2475T>C
c.4060T>C
c.2028T>C
n.9344T>C
c.9328T>C (p.Leu3110=)
c.9250T>C (p.Leu3084=)
c.6634T>C (p.Leu2212=)
n.272-804A>G
c.9352T>C (p.Leu3118=)
c.9349T>C (p.Leu3117=)
c.9271T>C (p.Leu3091=)
c.9256T>C (p.Leu3086=)
c.2470T>C (p.Leu824=)
c.2449T>C (p.Leu817=)
n.2523-804A>G
n.9347T>C
5g.90716613T>GCA360397417ADGRV1c.9331T>G (p.Leu3111Val)
c.265+40404T>G (n.265+40404T>G)
n.4790T>G
c.3138T>G
n.2475T>G
c.4060T>G
c.2028T>G
n.9344T>G
c.9328T>G (p.Leu3110Val)
c.9250T>G (p.Leu3084Val)
c.6634T>G (p.Leu2212Val)
n.272-804A>C
c.9352T>G (p.Leu3118Val)
c.9349T>G (p.Leu3117Val)
c.9271T>G (p.Leu3091Val)
c.9256T>G (p.Leu3086Val)
c.2470T>G (p.Leu824Val)
c.2449T>G (p.Leu817Val)
n.2523-804A>C
n.9347T>G
5g.90716614T>ACA360397422ADGRV1c.9332T>A (p.Leu3111Ter)
c.265+40405T>A (n.265+40405T>A)
n.4791T>A
c.3139T>A
n.2476T>A
c.4061T>A
c.2029T>A
n.9345T>A
c.9329T>A (p.Leu3110Ter)
c.9251T>A (p.Leu3084Ter)
c.6635T>A (p.Leu2212Ter)
n.272-805A>T
c.9353T>A (p.Leu3118Ter)
c.9350T>A (p.Leu3117Ter)
c.9272T>A (p.Leu3091Ter)
c.9257T>A (p.Leu3086Ter)
c.2471T>A (p.Leu824Ter)
c.2450T>A (p.Leu817Ter)
n.2523-805A>T
n.9348T>A
5g.90716614T>CCA360397421ADGRV1c.9332T>C (p.Leu3111Ser)
c.265+40405T>C (n.265+40405T>C)
n.4791T>C
c.3139T>C
n.2476T>C
c.4061T>C
c.2029T>C
n.9345T>C
c.9329T>C (p.Leu3110Ser)
c.9251T>C (p.Leu3084Ser)
c.6635T>C (p.Leu2212Ser)
n.272-805A>G
c.9353T>C (p.Leu3118Ser)
c.9350T>C (p.Leu3117Ser)
c.9272T>C (p.Leu3091Ser)
c.9257T>C (p.Leu3086Ser)
c.2471T>C (p.Leu824Ser)
c.2450T>C (p.Leu817Ser)
n.2523-805A>G
n.9348T>C
 dbSNP
5g.90716614T>GCA360397420ADGRV1c.9332T>G (p.Leu3111Trp)
c.265+40405T>G (n.265+40405T>G)
n.4791T>G
c.3139T>G
n.2476T>G
c.4061T>G
c.2029T>G
n.9345T>G
c.9329T>G (p.Leu3110Trp)
c.9251T>G (p.Leu3084Trp)
c.6635T>G (p.Leu2212Trp)
n.272-805A>C
c.9353T>G (p.Leu3118Trp)
c.9350T>G (p.Leu3117Trp)
c.9272T>G (p.Leu3091Trp)
c.9257T>G (p.Leu3086Trp)
c.2471T>G (p.Leu824Trp)
c.2450T>G (p.Leu817Trp)
n.2523-805A>C
n.9348T>G
5g.90716614T=CA1562870611ADGRV1c.9332T= (p.Leu3111=)
c.265+40405T= (n.265+40405T=)
n.4791T=
c.3139T=
n.2476T=
c.4061T=
c.2029T=
n.9345T=
c.9329T= (p.Leu3110=)
c.9251T= (p.Leu3084=)
c.6635T= (p.Leu2212=)
n.272-805A=
c.9353T= (p.Leu3118=)
c.9350T= (p.Leu3117=)
c.9272T= (p.Leu3091=)
c.9257T= (p.Leu3086=)
c.2471T= (p.Leu824=)
c.2450T= (p.Leu817=)
n.2523-805A=
n.9348T=
5g.90716615G>ACA445413687ADGRV1c.9333G>A (p.Leu3111=)
c.265+40406G>A (n.265+40406G>A)
n.4792G>A
c.3140G>A
n.2477G>A
c.4062G>A
c.2030G>A
n.9346G>A
c.9330G>A (p.Leu3110=)
c.9252G>A (p.Leu3084=)
c.6636G>A (p.Leu2212=)
n.272-806C>T
c.9354G>A (p.Leu3118=)
c.9351G>A (p.Leu3117=)
c.9273G>A (p.Leu3091=)
c.9258G>A (p.Leu3086=)
c.2472G>A (p.Leu824=)
c.2451G>A (p.Leu817=)
n.2523-806C>T
n.9349G>A
 gnomAD v4
5g.90716615G>CCA3340482ADGRV1c.9333G>C (p.Leu3111Phe)
c.265+40406G>C (n.265+40406G>C)
n.4792G>C
c.3140G>C
n.2477G>C
c.4062G>C
c.2030G>C
n.9346G>C
c.9330G>C (p.Leu3110Phe)
c.9252G>C (p.Leu3084Phe)
c.6636G>C (p.Leu2212Phe)
n.272-806C>G
c.9354G>C (p.Leu3118Phe)
c.9351G>C (p.Leu3117Phe)
c.9273G>C (p.Leu3091Phe)
c.9258G>C (p.Leu3086Phe)
c.2472G>C (p.Leu824Phe)
c.2451G>C (p.Leu817Phe)
n.2523-806C>G
n.9349G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716615G=CA1562870612ADGRV1c.9333G= (p.Leu3111=)
c.265+40406G= (n.265+40406G=)
n.4792G=
c.3140G=
n.2477G=
c.4062G=
c.2030G=
n.9346G=
c.9330G= (p.Leu3110=)
c.9252G= (p.Leu3084=)
c.6636G= (p.Leu2212=)
n.272-806C=
c.9354G= (p.Leu3118=)
c.9351G= (p.Leu3117=)
c.9273G= (p.Leu3091=)
c.9258G= (p.Leu3086=)
c.2472G= (p.Leu824=)
c.2451G= (p.Leu817=)
n.2523-806C=
n.9349G=
5g.90716615G>TCA360397424ADGRV1c.9333G>T (p.Leu3111Phe)
c.265+40406G>T (n.265+40406G>T)
n.4792G>T
c.3140G>T
n.2477G>T
c.4062G>T
c.2030G>T
n.9346G>T
c.9330G>T (p.Leu3110Phe)
c.9252G>T (p.Leu3084Phe)
c.6636G>T (p.Leu2212Phe)
n.272-806C>A
c.9354G>T (p.Leu3118Phe)
c.9351G>T (p.Leu3117Phe)
c.9273G>T (p.Leu3091Phe)
c.9258G>T (p.Leu3086Phe)
c.2472G>T (p.Leu824Phe)
c.2451G>T (p.Leu817Phe)
n.2523-806C>A
n.9349G>T
5g.90716616T>ACA360397426ADGRV1c.9334T>A (p.Phe3112Ile)
c.265+40407T>A (n.265+40407T>A)
n.4793T>A
c.3141T>A
n.2478T>A
c.4063T>A
c.2031T>A
n.9347T>A
c.9331T>A (p.Phe3111Ile)
c.9253T>A (p.Phe3085Ile)
c.6637T>A (p.Phe2213Ile)
n.272-807A>T
c.9355T>A (p.Phe3119Ile)
c.9352T>A (p.Phe3118Ile)
c.9274T>A (p.Phe3092Ile)
c.9259T>A (p.Phe3087Ile)
c.2473T>A (p.Phe825Ile)
c.2452T>A (p.Phe818Ile)
n.2523-807A>T
n.9350T>A
5g.90716616T>CCA360397428ADGRV1c.9334T>C (p.Phe3112Leu)
c.265+40407T>C (n.265+40407T>C)
n.4793T>C
c.3141T>C
n.2478T>C
c.4063T>C
c.2031T>C
n.9347T>C
c.9331T>C (p.Phe3111Leu)
c.9253T>C (p.Phe3085Leu)
c.6637T>C (p.Phe2213Leu)
n.272-807A>G
c.9355T>C (p.Phe3119Leu)
c.9352T>C (p.Phe3118Leu)
c.9274T>C (p.Phe3092Leu)
c.9259T>C (p.Phe3087Leu)
c.2473T>C (p.Phe825Leu)
c.2452T>C (p.Phe818Leu)
n.2523-807A>G
n.9350T>C
 gnomAD v4
5g.90716616T>GCA360397430ADGRV1c.9334T>G (p.Phe3112Val)
c.265+40407T>G (n.265+40407T>G)
n.4793T>G
c.3141T>G
n.2478T>G
c.4063T>G
c.2031T>G
n.9347T>G
c.9331T>G (p.Phe3111Val)
c.9253T>G (p.Phe3085Val)
c.6637T>G (p.Phe2213Val)
n.272-807A>C
c.9355T>G (p.Phe3119Val)
c.9352T>G (p.Phe3118Val)
c.9274T>G (p.Phe3092Val)
c.9259T>G (p.Phe3087Val)
c.2473T>G (p.Phe825Val)
c.2452T>G (p.Phe818Val)
n.2523-807A>C
n.9350T>G
5g.90716617T>ACA360397431ADGRV1c.9335T>A (p.Phe3112Tyr)
c.265+40408T>A (n.265+40408T>A)
n.4794T>A
c.3142T>A
n.2479T>A
c.4064T>A
c.2032T>A
n.9348T>A
c.9332T>A (p.Phe3111Tyr)
c.9254T>A (p.Phe3085Tyr)
c.6638T>A (p.Phe2213Tyr)
n.272-808A>T
c.9356T>A (p.Phe3119Tyr)
c.9353T>A (p.Phe3118Tyr)
c.9275T>A (p.Phe3092Tyr)
c.9260T>A (p.Phe3087Tyr)
c.2474T>A (p.Phe825Tyr)
c.2453T>A (p.Phe818Tyr)
n.2523-808A>T
n.9351T>A
5g.90716617T>CCA360397433ADGRV1c.9335T>C (p.Phe3112Ser)
c.265+40408T>C (n.265+40408T>C)
n.4794T>C
c.3142T>C
n.2479T>C
c.4064T>C
c.2032T>C
n.9348T>C
c.9332T>C (p.Phe3111Ser)
c.9254T>C (p.Phe3085Ser)
c.6638T>C (p.Phe2213Ser)
n.272-808A>G
c.9356T>C (p.Phe3119Ser)
c.9353T>C (p.Phe3118Ser)
c.9275T>C (p.Phe3092Ser)
c.9260T>C (p.Phe3087Ser)
c.2474T>C (p.Phe825Ser)
c.2453T>C (p.Phe818Ser)
n.2523-808A>G
n.9351T>C
 ClinVar
5g.90716617T>GCA360397434ADGRV1c.9335T>G (p.Phe3112Cys)
c.265+40408T>G (n.265+40408T>G)
n.4794T>G
c.3142T>G
n.2479T>G
c.4064T>G
c.2032T>G
n.9348T>G
c.9332T>G (p.Phe3111Cys)
c.9254T>G (p.Phe3085Cys)
c.6638T>G (p.Phe2213Cys)
n.272-808A>C
c.9356T>G (p.Phe3119Cys)
c.9353T>G (p.Phe3118Cys)
c.9275T>G (p.Phe3092Cys)
c.9260T>G (p.Phe3087Cys)
c.2474T>G (p.Phe825Cys)
c.2453T>G (p.Phe818Cys)
n.2523-808A>C
n.9351T>G
5g.90716618T>ACA360397436ADGRV1c.9336T>A (p.Phe3112Leu)
c.265+40409T>A (n.265+40409T>A)
n.4795T>A
c.3143T>A
n.2480T>A
c.4065T>A
c.2033T>A
n.9349T>A
c.9333T>A (p.Phe3111Leu)
c.9255T>A (p.Phe3085Leu)
c.6639T>A (p.Phe2213Leu)
n.272-809A>T
c.9357T>A (p.Phe3119Leu)
c.9354T>A (p.Phe3118Leu)
c.9276T>A (p.Phe3092Leu)
c.9261T>A (p.Phe3087Leu)
c.2475T>A (p.Phe825Leu)
c.2454T>A (p.Phe818Leu)
n.2523-809A>T
n.9352T>A
5g.90716618T>CCA445413696ADGRV1c.9336T>C (p.Phe3112=)
c.265+40409T>C (n.265+40409T>C)
n.4795T>C
c.3143T>C
n.2480T>C
c.4065T>C
c.2033T>C
n.9349T>C
c.9333T>C (p.Phe3111=)
c.9255T>C (p.Phe3085=)
c.6639T>C (p.Phe2213=)
n.272-809A>G
c.9357T>C (p.Phe3119=)
c.9354T>C (p.Phe3118=)
c.9276T>C (p.Phe3092=)
c.9261T>C (p.Phe3087=)
c.2475T>C (p.Phe825=)
c.2454T>C (p.Phe818=)
n.2523-809A>G
n.9352T>C
5g.90716618T>GCA360397438ADGRV1c.9336T>G (p.Phe3112Leu)
c.265+40409T>G (n.265+40409T>G)
n.4795T>G
c.3143T>G
n.2480T>G
c.4065T>G
c.2033T>G
n.9349T>G
c.9333T>G (p.Phe3111Leu)
c.9255T>G (p.Phe3085Leu)
c.6639T>G (p.Phe2213Leu)
n.272-809A>C
c.9357T>G (p.Phe3119Leu)
c.9354T>G (p.Phe3118Leu)
c.9276T>G (p.Phe3092Leu)
c.9261T>G (p.Phe3087Leu)
c.2475T>G (p.Phe825Leu)
c.2454T>G (p.Phe818Leu)
n.2523-809A>C
n.9352T>G
5g.90716619G>ACA360397439ADGRV1c.9337G>A (p.Gly3113Arg)
c.265+40410G>A (n.265+40410G>A)
n.4796G>A
c.3144G>A
n.2481G>A
c.4066G>A
c.2034G>A
n.9350G>A
c.9334G>A (p.Gly3112Arg)
c.9256G>A (p.Gly3086Arg)
c.6640G>A (p.Gly2214Arg)
n.272-810C>T
c.9358G>A (p.Gly3120Arg)
c.9355G>A (p.Gly3119Arg)
c.9277G>A (p.Gly3093Arg)
c.9262G>A (p.Gly3088Arg)
c.2476G>A (p.Gly826Arg)
c.2455G>A (p.Gly819Arg)
n.2523-810C>T
n.9353G>A
5g.90716619G>CCA360397440ADGRV1c.9337G>C (p.Gly3113Arg)
c.265+40410G>C (n.265+40410G>C)
n.4796G>C
c.3144G>C
n.2481G>C
c.4066G>C
c.2034G>C
n.9350G>C
c.9334G>C (p.Gly3112Arg)
c.9256G>C (p.Gly3086Arg)
c.6640G>C (p.Gly2214Arg)
n.272-810C>G
c.9358G>C (p.Gly3120Arg)
c.9355G>C (p.Gly3119Arg)
c.9277G>C (p.Gly3093Arg)
c.9262G>C (p.Gly3088Arg)
c.2476G>C (p.Gly826Arg)
c.2455G>C (p.Gly819Arg)
n.2523-810C>G
n.9353G>C
5g.90716619G>TCA360397442ADGRV1c.9337G>T (p.Gly3113Ter)
c.265+40410G>T (n.265+40410G>T)
n.4796G>T
c.3144G>T
n.2481G>T
c.4066G>T
c.2034G>T
n.9350G>T
c.9334G>T (p.Gly3112Ter)
c.9256G>T (p.Gly3086Ter)
c.6640G>T (p.Gly2214Ter)
n.272-810C>A
c.9358G>T (p.Gly3120Ter)
c.9355G>T (p.Gly3119Ter)
c.9277G>T (p.Gly3093Ter)
c.9262G>T (p.Gly3088Ter)
c.2476G>T (p.Gly826Ter)
c.2455G>T (p.Gly819Ter)
n.2523-810C>A
n.9353G>T
5g.90716620G>ACA360397446ADGRV1c.9338G>A (p.Gly3113Glu)
c.265+40411G>A (n.265+40411G>A)
n.4797G>A
c.3145G>A
n.2482G>A
c.4067G>A
c.2035G>A
n.9351G>A
c.9335G>A (p.Gly3112Glu)
c.9257G>A (p.Gly3086Glu)
c.6641G>A (p.Gly2214Glu)
n.272-811C>T
c.9359G>A (p.Gly3120Glu)
c.9356G>A (p.Gly3119Glu)
c.9278G>A (p.Gly3093Glu)
c.9263G>A (p.Gly3088Glu)
c.2477G>A (p.Gly826Glu)
c.2456G>A (p.Gly819Glu)
n.2523-811C>T
n.9354G>A
 gnomAD v4
5g.90716620G>CCA360397447ADGRV1c.9338G>C (p.Gly3113Ala)
c.265+40411G>C (n.265+40411G>C)
n.4797G>C
c.3145G>C
n.2482G>C
c.4067G>C
c.2035G>C
n.9351G>C
c.9335G>C (p.Gly3112Ala)
c.9257G>C (p.Gly3086Ala)
c.6641G>C (p.Gly2214Ala)
n.272-811C>G
c.9359G>C (p.Gly3120Ala)
c.9356G>C (p.Gly3119Ala)
c.9278G>C (p.Gly3093Ala)
c.9263G>C (p.Gly3088Ala)
c.2477G>C (p.Gly826Ala)
c.2456G>C (p.Gly819Ala)
n.2523-811C>G
n.9354G>C
5g.90716620G>TCA360397444ADGRV1c.9338G>T (p.Gly3113Val)
c.265+40411G>T (n.265+40411G>T)
n.4797G>T
c.3145G>T
n.2482G>T
c.4067G>T
c.2035G>T
n.9351G>T
c.9335G>T (p.Gly3112Val)
c.9257G>T (p.Gly3086Val)
c.6641G>T (p.Gly2214Val)
n.272-811C>A
c.9359G>T (p.Gly3120Val)
c.9356G>T (p.Gly3119Val)
c.9278G>T (p.Gly3093Val)
c.9263G>T (p.Gly3088Val)
c.2477G>T (p.Gly826Val)
c.2456G>T (p.Gly819Val)
n.2523-811C>A
n.9354G>T
 gnomAD v4
5g.90716621A>CCA445413705ADGRV1c.9339A>C (p.Gly3113=)
c.265+40412A>C (n.265+40412A>C)
n.4798A>C
c.3146A>C
n.2483A>C
c.4068A>C
c.2036A>C
n.9352A>C
c.9336A>C (p.Gly3112=)
c.9258A>C (p.Gly3086=)
c.6642A>C (p.Gly2214=)
n.272-812T>G
c.9360A>C (p.Gly3120=)
c.9357A>C (p.Gly3119=)
c.9279A>C (p.Gly3093=)
c.9264A>C (p.Gly3088=)
c.2478A>C (p.Gly826=)
c.2457A>C (p.Gly819=)
n.2523-812T>G
n.9355A>C
5g.90716621A>GCA445413703ADGRV1c.9339A>G (p.Gly3113=)
c.265+40412A>G (n.265+40412A>G)
n.4798A>G
c.3146A>G
n.2483A>G
c.4068A>G
c.2036A>G
n.9352A>G
c.9336A>G (p.Gly3112=)
c.9258A>G (p.Gly3086=)
c.6642A>G (p.Gly2214=)
n.272-812T>C
c.9360A>G (p.Gly3120=)
c.9357A>G (p.Gly3119=)
c.9279A>G (p.Gly3093=)
c.9264A>G (p.Gly3088=)
c.2478A>G (p.Gly826=)
c.2457A>G (p.Gly819=)
n.2523-812T>C
n.9355A>G
5g.90716621A>TCA445413702ADGRV1c.9339A>T (p.Gly3113=)
c.265+40412A>T (n.265+40412A>T)
n.4798A>T
c.3146A>T
n.2483A>T
c.4068A>T
c.2036A>T
n.9352A>T
c.9336A>T (p.Gly3112=)
c.9258A>T (p.Gly3086=)
c.6642A>T (p.Gly2214=)
n.272-812T>A
c.9360A>T (p.Gly3120=)
c.9357A>T (p.Gly3119=)
c.9279A>T (p.Gly3093=)
c.9264A>T (p.Gly3088=)
c.2478A>T (p.Gly826=)
c.2457A>T (p.Gly819=)
n.2523-812T>A
n.9355A>T
5g.90716622A>CCA360397449ADGRV1c.9340A>C (p.Thr3114Pro)
c.265+40413A>C (n.265+40413A>C)
n.4799A>C
c.3147A>C
n.2484A>C
c.4069A>C
c.2037A>C
n.9353A>C
c.9337A>C (p.Thr3113Pro)
c.9259A>C (p.Thr3087Pro)
c.6643A>C (p.Thr2215Pro)
n.272-813T>G
c.9361A>C (p.Thr3121Pro)
c.9358A>C (p.Thr3120Pro)
c.9280A>C (p.Thr3094Pro)
c.9265A>C (p.Thr3089Pro)
c.2479A>C (p.Thr827Pro)
c.2458A>C (p.Thr820Pro)
n.2523-813T>G
n.9356A>C
 gnomAD v4
5g.90716622A>GCA360397452ADGRV1c.9340A>G (p.Thr3114Ala)
c.265+40413A>G (n.265+40413A>G)
n.4799A>G
c.3147A>G
n.2484A>G
c.4069A>G
c.2037A>G
n.9353A>G
c.9337A>G (p.Thr3113Ala)
c.9259A>G (p.Thr3087Ala)
c.6643A>G (p.Thr2215Ala)
n.272-813T>C
c.9361A>G (p.Thr3121Ala)
c.9358A>G (p.Thr3120Ala)
c.9280A>G (p.Thr3094Ala)
c.9265A>G (p.Thr3089Ala)
c.2479A>G (p.Thr827Ala)
c.2458A>G (p.Thr820Ala)
n.2523-813T>C
n.9356A>G
 gnomAD v4
5g.90716622A>TCA360397450ADGRV1c.9340A>T (p.Thr3114Ser)
c.265+40413A>T (n.265+40413A>T)
n.4799A>T
c.3147A>T
n.2484A>T
c.4069A>T
c.2037A>T
n.9353A>T
c.9337A>T (p.Thr3113Ser)
c.9259A>T (p.Thr3087Ser)
c.6643A>T (p.Thr2215Ser)
n.272-813T>A
c.9361A>T (p.Thr3121Ser)
c.9358A>T (p.Thr3120Ser)
c.9280A>T (p.Thr3094Ser)
c.9265A>T (p.Thr3089Ser)
c.2479A>T (p.Thr827Ser)
c.2458A>T (p.Thr820Ser)
n.2523-813T>A
n.9356A>T
5g.90716623C>ACA360397453ADGRV1c.9341C>A (p.Thr3114Lys)
c.265+40414C>A (n.265+40414C>A)
n.4800C>A
c.3148C>A
n.2485C>A
c.4070C>A
c.2038C>A
n.9354C>A
c.9338C>A (p.Thr3113Lys)
c.9260C>A (p.Thr3087Lys)
c.6644C>A (p.Thr2215Lys)
n.272-814G>T
c.9362C>A (p.Thr3121Lys)
c.9359C>A (p.Thr3120Lys)
c.9281C>A (p.Thr3094Lys)
c.9266C>A (p.Thr3089Lys)
c.2480C>A (p.Thr827Lys)
c.2459C>A (p.Thr820Lys)
n.2523-814G>T
n.9357C>A
5g.90716623C>GCA360397457ADGRV1c.9341C>G (p.Thr3114Arg)
c.265+40414C>G (n.265+40414C>G)
n.4800C>G
c.3148C>G
n.2485C>G
c.4070C>G
c.2038C>G
n.9354C>G
c.9338C>G (p.Thr3113Arg)
c.9260C>G (p.Thr3087Arg)
c.6644C>G (p.Thr2215Arg)
n.272-814G>C
c.9362C>G (p.Thr3121Arg)
c.9359C>G (p.Thr3120Arg)
c.9281C>G (p.Thr3094Arg)
c.9266C>G (p.Thr3089Arg)
c.2480C>G (p.Thr827Arg)
c.2459C>G (p.Thr820Arg)
n.2523-814G>C
n.9357C>G
5g.90716623C>TCA360397455ADGRV1c.9341C>T (p.Thr3114Ile)
c.265+40414C>T (n.265+40414C>T)
n.4800C>T
c.3148C>T
n.2485C>T
c.4070C>T
c.2038C>T
n.9354C>T
c.9338C>T (p.Thr3113Ile)
c.9260C>T (p.Thr3087Ile)
c.6644C>T (p.Thr2215Ile)
n.272-814G>A
c.9362C>T (p.Thr3121Ile)
c.9359C>T (p.Thr3120Ile)
c.9281C>T (p.Thr3094Ile)
c.9266C>T (p.Thr3089Ile)
c.2480C>T (p.Thr827Ile)
c.2459C>T (p.Thr820Ile)
n.2523-814G>A
n.9357C>T
5g.90716624A>CCA445413714ADGRV1c.9342A>C (p.Thr3114=)
c.265+40415A>C (n.265+40415A>C)
n.4801A>C
c.3149A>C
n.2486A>C
c.4071A>C
c.2039A>C
n.9355A>C
c.9339A>C (p.Thr3113=)
c.9261A>C (p.Thr3087=)
c.6645A>C (p.Thr2215=)
n.272-815T>G
c.9363A>C (p.Thr3121=)
c.9360A>C (p.Thr3120=)
c.9282A>C (p.Thr3094=)
c.9267A>C (p.Thr3089=)
c.2481A>C (p.Thr827=)
c.2460A>C (p.Thr820=)
n.2523-815T>G
n.9358A>C
5g.90716624A>GCA445413716ADGRV1c.9342A>G (p.Thr3114=)
c.265+40415A>G (n.265+40415A>G)
n.4801A>G
c.3149A>G
n.2486A>G
c.4071A>G
c.2039A>G
n.9355A>G
c.9339A>G (p.Thr3113=)
c.9261A>G (p.Thr3087=)
c.6645A>G (p.Thr2215=)
n.272-815T>C
c.9363A>G (p.Thr3121=)
c.9360A>G (p.Thr3120=)
c.9282A>G (p.Thr3094=)
c.9267A>G (p.Thr3089=)
c.2481A>G (p.Thr827=)
c.2460A>G (p.Thr820=)
n.2523-815T>C
n.9358A>G
5g.90716624A>TCA445413718ADGRV1c.9342A>T (p.Thr3114=)
c.265+40415A>T (n.265+40415A>T)
n.4801A>T
c.3149A>T
n.2486A>T
c.4071A>T
c.2039A>T
n.9355A>T
c.9339A>T (p.Thr3113=)
c.9261A>T (p.Thr3087=)
c.6645A>T (p.Thr2215=)
n.272-815T>A
c.9363A>T (p.Thr3121=)
c.9360A>T (p.Thr3120=)
c.9282A>T (p.Thr3094=)
c.9267A>T (p.Thr3089=)
c.2481A>T (p.Thr827=)
c.2460A>T (p.Thr820=)
n.2523-815T>A
n.9358A>T
5g.90716625G>ACA360397458ADGRV1c.9343G>A (p.Val3115Met)
c.265+40416G>A (n.265+40416G>A)
n.4802G>A
c.3150G>A
n.2487G>A
c.4072G>A
c.2040G>A
n.9356G>A
c.9340G>A (p.Val3114Met)
c.9262G>A (p.Val3088Met)
c.6646G>A (p.Val2216Met)
n.272-816C>T
c.9364G>A (p.Val3122Met)
c.9361G>A (p.Val3121Met)
c.9283G>A (p.Val3095Met)
c.9268G>A (p.Val3090Met)
c.2482G>A (p.Val828Met)
c.2461G>A (p.Val821Met)
n.2523-816C>T
n.9359G>A
 gnomAD v4
5g.90716625G>CCA360397460ADGRV1c.9343G>C (p.Val3115Leu)
c.265+40416G>C (n.265+40416G>C)
n.4802G>C
c.3150G>C
n.2487G>C
c.4072G>C
c.2040G>C
n.9356G>C
c.9340G>C (p.Val3114Leu)
c.9262G>C (p.Val3088Leu)
c.6646G>C (p.Val2216Leu)
n.272-816C>G
c.9364G>C (p.Val3122Leu)
c.9361G>C (p.Val3121Leu)
c.9283G>C (p.Val3095Leu)
c.9268G>C (p.Val3090Leu)
c.2482G>C (p.Val828Leu)
c.2461G>C (p.Val821Leu)
n.2523-816C>G
n.9359G>C
5g.90716625G>TCA360397461ADGRV1c.9343G>T (p.Val3115Leu)
c.265+40416G>T (n.265+40416G>T)
n.4802G>T
c.3150G>T
n.2487G>T
c.4072G>T
c.2040G>T
n.9356G>T
c.9340G>T (p.Val3114Leu)
c.9262G>T (p.Val3088Leu)
c.6646G>T (p.Val2216Leu)
n.272-816C>A
c.9364G>T (p.Val3122Leu)
c.9361G>T (p.Val3121Leu)
c.9283G>T (p.Val3095Leu)
c.9268G>T (p.Val3090Leu)
c.2482G>T (p.Val828Leu)
c.2461G>T (p.Val821Leu)
n.2523-816C>A
n.9359G>T
5g.90716626T>ACA360397463ADGRV1c.9344T>A (p.Val3115Glu)
c.265+40417T>A (n.265+40417T>A)
n.4803T>A
c.3151T>A
n.2488T>A
c.4073T>A
c.2041T>A
n.9357T>A
c.9341T>A (p.Val3114Glu)
c.9263T>A (p.Val3088Glu)
c.6647T>A (p.Val2216Glu)
n.272-817A>T
c.9365T>A (p.Val3122Glu)
c.9362T>A (p.Val3121Glu)
c.9284T>A (p.Val3095Glu)
c.9269T>A (p.Val3090Glu)
c.2483T>A (p.Val828Glu)
c.2462T>A (p.Val821Glu)
n.2523-817A>T
n.9360T>A
5g.90716626T>CCA360397465ADGRV1c.9344T>C (p.Val3115Ala)
c.265+40417T>C (n.265+40417T>C)
n.4803T>C
c.3151T>C
n.2488T>C
c.4073T>C
c.2041T>C
n.9357T>C
c.9341T>C (p.Val3114Ala)
c.9263T>C (p.Val3088Ala)
c.6647T>C (p.Val2216Ala)
n.272-817A>G
c.9365T>C (p.Val3122Ala)
c.9362T>C (p.Val3121Ala)
c.9284T>C (p.Val3095Ala)
c.9269T>C (p.Val3090Ala)
c.2483T>C (p.Val828Ala)
c.2462T>C (p.Val821Ala)
n.2523-817A>G
n.9360T>C
5g.90716626T>GCA360397466ADGRV1c.9344T>G (p.Val3115Gly)
c.265+40417T>G (n.265+40417T>G)
n.4803T>G
c.3151T>G
n.2488T>G
c.4073T>G
c.2041T>G
n.9357T>G
c.9341T>G (p.Val3114Gly)
c.9263T>G (p.Val3088Gly)
c.6647T>G (p.Val2216Gly)
n.272-817A>C
c.9365T>G (p.Val3122Gly)
c.9362T>G (p.Val3121Gly)
c.9284T>G (p.Val3095Gly)
c.9269T>G (p.Val3090Gly)
c.2483T>G (p.Val828Gly)
c.2462T>G (p.Val821Gly)
n.2523-817A>C
n.9360T>G
5g.90716627G>ACA445413727ADGRV1c.9345G>A (p.Val3115=)
c.265+40418G>A (n.265+40418G>A)
n.4804G>A
c.3152G>A
n.2489G>A
c.4074G>A
c.2042G>A
n.9358G>A
c.9342G>A (p.Val3114=)
c.9264G>A (p.Val3088=)
c.6648G>A (p.Val2216=)
n.272-818C>T
c.9366G>A (p.Val3122=)
c.9363G>A (p.Val3121=)
c.9285G>A (p.Val3095=)
c.9270G>A (p.Val3090=)
c.2484G>A (p.Val828=)
c.2463G>A (p.Val821=)
n.2523-818C>T
n.9361G>A
 ClinVar dbSNP
5g.90716627G>CCA445413731ADGRV1c.9345G>C (p.Val3115=)
c.265+40418G>C (n.265+40418G>C)
n.4804G>C
c.3152G>C
n.2489G>C
c.4074G>C
c.2042G>C
n.9358G>C
c.9342G>C (p.Val3114=)
c.9264G>C (p.Val3088=)
c.6648G>C (p.Val2216=)
n.272-818C>G
c.9366G>C (p.Val3122=)
c.9363G>C (p.Val3121=)
c.9285G>C (p.Val3095=)
c.9270G>C (p.Val3090=)
c.2484G>C (p.Val828=)
c.2463G>C (p.Val821=)
n.2523-818C>G
n.9361G>C
5g.90716627G>TCA445413729ADGRV1c.9345G>T (p.Val3115=)
c.265+40418G>T (n.265+40418G>T)
n.4804G>T
c.3152G>T
n.2489G>T
c.4074G>T
c.2042G>T
n.9358G>T
c.9342G>T (p.Val3114=)
c.9264G>T (p.Val3088=)
c.6648G>T (p.Val2216=)
n.272-818C>A
c.9366G>T (p.Val3122=)
c.9363G>T (p.Val3121=)
c.9285G>T (p.Val3095=)
c.9270G>T (p.Val3090=)
c.2484G>T (p.Val828=)
c.2463G>T (p.Val821=)
n.2523-818C>A
n.9361G>T
5g.90716628A=CA1562870613ADGRV1c.9346A= (p.Thr3116=)
c.265+40419A= (n.265+40419A=)
n.4805A=
c.3153A=
n.2490A=
c.4075A=
c.2043A=
n.9359A=
c.9343A= (p.Thr3115=)
c.9265A= (p.Thr3089=)
c.6649A= (p.Thr2217=)
n.272-819T=
c.9367A= (p.Thr3123=)
c.9364A= (p.Thr3122=)
c.9286A= (p.Thr3096=)
c.9271A= (p.Thr3091=)
c.2485A= (p.Thr829=)
c.2464A= (p.Thr822=)
n.2523-819T=
n.9362A=
5g.90716628A>CCA360397468ADGRV1c.9346A>C (p.Thr3116Pro)
c.265+40419A>C (n.265+40419A>C)
n.4805A>C
c.3153A>C
n.2490A>C
c.4075A>C
c.2043A>C
n.9359A>C
c.9343A>C (p.Thr3115Pro)
c.9265A>C (p.Thr3089Pro)
c.6649A>C (p.Thr2217Pro)
n.272-819T>G
c.9367A>C (p.Thr3123Pro)
c.9364A>C (p.Thr3122Pro)
c.9286A>C (p.Thr3096Pro)
c.9271A>C (p.Thr3091Pro)
c.2485A>C (p.Thr829Pro)
c.2464A>C (p.Thr822Pro)
n.2523-819T>G
n.9362A>C
5g.90716628A>GCA360397469ADGRV1c.9346A>G (p.Thr3116Ala)
c.265+40419A>G (n.265+40419A>G)
n.4805A>G
c.3153A>G
n.2490A>G
c.4075A>G
c.2043A>G
n.9359A>G
c.9343A>G (p.Thr3115Ala)
c.9265A>G (p.Thr3089Ala)
c.6649A>G (p.Thr2217Ala)
n.272-819T>C
c.9367A>G (p.Thr3123Ala)
c.9364A>G (p.Thr3122Ala)
c.9286A>G (p.Thr3096Ala)
c.9271A>G (p.Thr3091Ala)
c.2485A>G (p.Thr829Ala)
c.2464A>G (p.Thr822Ala)
n.2523-819T>C
n.9362A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90716628A>TCA360397471ADGRV1c.9346A>T (p.Thr3116Ser)
c.265+40419A>T (n.265+40419A>T)
n.4805A>T
c.3153A>T
n.2490A>T
c.4075A>T
c.2043A>T
n.9359A>T
c.9343A>T (p.Thr3115Ser)
c.9265A>T (p.Thr3089Ser)
c.6649A>T (p.Thr2217Ser)
n.272-819T>A
c.9367A>T (p.Thr3123Ser)
c.9364A>T (p.Thr3122Ser)
c.9286A>T (p.Thr3096Ser)
c.9271A>T (p.Thr3091Ser)
c.2485A>T (p.Thr829Ser)
c.2464A>T (p.Thr822Ser)
n.2523-819T>A
n.9362A>T
 dbSNP gnomAD v2
5g.90716629C>ACA360397473ADGRV1c.9347C>A (p.Thr3116Lys)
c.265+40420C>A (n.265+40420C>A)
n.4806C>A
c.3154C>A
n.2491C>A
c.4076C>A
c.2044C>A
n.9360C>A
c.9344C>A (p.Thr3115Lys)
c.9266C>A (p.Thr3089Lys)
c.6650C>A (p.Thr2217Lys)
n.272-820G>T
c.9368C>A (p.Thr3123Lys)
c.9365C>A (p.Thr3122Lys)
c.9287C>A (p.Thr3096Lys)
c.9272C>A (p.Thr3091Lys)
c.2486C>A (p.Thr829Lys)
c.2465C>A (p.Thr822Lys)
n.2523-820G>T
n.9363C>A
5g.90716629C>GCA360397474ADGRV1c.9347C>G (p.Thr3116Arg)
c.265+40420C>G (n.265+40420C>G)
n.4806C>G
c.3154C>G
n.2491C>G
c.4076C>G
c.2044C>G
n.9360C>G
c.9344C>G (p.Thr3115Arg)
c.9266C>G (p.Thr3089Arg)
c.6650C>G (p.Thr2217Arg)
n.272-820G>C
c.9368C>G (p.Thr3123Arg)
c.9365C>G (p.Thr3122Arg)
c.9287C>G (p.Thr3096Arg)
c.9272C>G (p.Thr3091Arg)
c.2486C>G (p.Thr829Arg)
c.2465C>G (p.Thr822Arg)
n.2523-820G>C
n.9363C>G
5g.90716629C>TCA360397476ADGRV1c.9347C>T (p.Thr3116Ile)
c.265+40420C>T (n.265+40420C>T)
n.4806C>T
c.3154C>T
n.2491C>T
c.4076C>T
c.2044C>T
n.9360C>T
c.9344C>T (p.Thr3115Ile)
c.9266C>T (p.Thr3089Ile)
c.6650C>T (p.Thr2217Ile)
n.272-820G>A
c.9368C>T (p.Thr3123Ile)
c.9365C>T (p.Thr3122Ile)
c.9287C>T (p.Thr3096Ile)
c.9272C>T (p.Thr3091Ile)
c.2486C>T (p.Thr829Ile)
c.2465C>T (p.Thr822Ile)
n.2523-820G>A
n.9363C>T
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.90716630A=CA1562870614ADGRV1c.9348A= (p.Thr3116=)
c.265+40421A= (n.265+40421A=)
n.4807A=
c.3155A=
n.2492A=
c.4077A=
c.2045A=
n.9361A=
c.9345A= (p.Thr3115=)
c.9267A= (p.Thr3089=)
c.6651A= (p.Thr2217=)
n.272-821T=
c.9369A= (p.Thr3123=)
c.9366A= (p.Thr3122=)
c.9288A= (p.Thr3096=)
c.9273A= (p.Thr3091=)
c.2487A= (p.Thr829=)
c.2466A= (p.Thr822=)
n.2523-821T=
n.9364A=
5g.90716630A>CCA445413734ADGRV1c.9348A>C (p.Thr3116=)
c.265+40421A>C (n.265+40421A>C)
n.4807A>C
c.3155A>C
n.2492A>C
c.4077A>C
c.2045A>C
n.9361A>C
c.9345A>C (p.Thr3115=)
c.9267A>C (p.Thr3089=)
c.6651A>C (p.Thr2217=)
n.272-821T>G
c.9369A>C (p.Thr3123=)
c.9366A>C (p.Thr3122=)
c.9288A>C (p.Thr3096=)
c.9273A>C (p.Thr3091=)
c.2487A>C (p.Thr829=)
c.2466A>C (p.Thr822=)
n.2523-821T>G
n.9364A>C
5g.90716630A>GCA3340483ADGRV1c.9348A>G (p.Thr3116=)
c.265+40421A>G (n.265+40421A>G)
n.4807A>G
c.3155A>G
n.2492A>G
c.4077A>G
c.2045A>G
n.9361A>G
c.9345A>G (p.Thr3115=)
c.9267A>G (p.Thr3089=)
c.6651A>G (p.Thr2217=)
n.272-821T>C
c.9369A>G (p.Thr3123=)
c.9366A>G (p.Thr3122=)
c.9288A>G (p.Thr3096=)
c.9273A>G (p.Thr3091=)
c.2487A>G (p.Thr829=)
c.2466A>G (p.Thr822=)
n.2523-821T>C
n.9364A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90716630A>TCA445413736ADGRV1c.9348A>T (p.Thr3116=)
c.265+40421A>T (n.265+40421A>T)
n.4807A>T
c.3155A>T
n.2492A>T
c.4077A>T
c.2045A>T
n.9361A>T
c.9345A>T (p.Thr3115=)
c.9267A>T (p.Thr3089=)
c.6651A>T (p.Thr2217=)
n.272-821T>A
c.9369A>T (p.Thr3123=)
c.9366A>T (p.Thr3122=)
c.9288A>T (p.Thr3096=)
c.9273A>T (p.Thr3091=)
c.2487A>T (p.Thr829=)
c.2466A>T (p.Thr822=)
n.2523-821T>A
n.9364A>T
5g.90716631G>ACA360397482ADGRV1c.9349G>A (p.Val3117Ile)
c.265+40422G>A (n.265+40422G>A)
n.4808G>A
c.3156G>A
n.2493G>A
c.4078G>A
c.2046G>A
n.9362G>A
c.9346G>A (p.Val3116Ile)
c.9268G>A (p.Val3090Ile)
c.6652G>A (p.Val2218Ile)
n.272-822C>T
c.9370G>A (p.Val3124Ile)
c.9367G>A (p.Val3123Ile)
c.9289G>A (p.Val3097Ile)
c.9274G>A (p.Val3092Ile)
c.2488G>A (p.Val830Ile)
c.2467G>A (p.Val823Ile)
n.2523-822C>T
n.9365G>A
 gnomAD v4 COSMIC
5g.90716631G>CCA360397479ADGRV1c.9349G>C (p.Val3117Leu)
c.265+40422G>C (n.265+40422G>C)
n.4808G>C
c.3156G>C
n.2493G>C
c.4078G>C
c.2046G>C
n.9362G>C
c.9346G>C (p.Val3116Leu)
c.9268G>C (p.Val3090Leu)
c.6652G>C (p.Val2218Leu)
n.272-822C>G
c.9370G>C (p.Val3124Leu)
c.9367G>C (p.Val3123Leu)
c.9289G>C (p.Val3097Leu)
c.9274G>C (p.Val3092Leu)
c.2488G>C (p.Val830Leu)
c.2467G>C (p.Val823Leu)
n.2523-822C>G
n.9365G>C
 dbSNP
5g.90716631G=CA1562870615ADGRV1c.9349G= (p.Val3117=)
c.265+40422G= (n.265+40422G=)
n.4808G=
c.3156G=
n.2493G=
c.4078G=
c.2046G=
n.9362G=
c.9346G= (p.Val3116=)
c.9268G= (p.Val3090=)
c.6652G= (p.Val2218=)
n.272-822C=
c.9370G= (p.Val3124=)
c.9367G= (p.Val3123=)
c.9289G= (p.Val3097=)
c.9274G= (p.Val3092=)
c.2488G= (p.Val830=)
c.2467G= (p.Val823=)
n.2523-822C=
n.9365G=
5g.90716631G>TCA360397480ADGRV1c.9349G>T (p.Val3117Phe)
c.265+40422G>T (n.265+40422G>T)
n.4808G>T
c.3156G>T
n.2493G>T
c.4078G>T
c.2046G>T
n.9362G>T
c.9346G>T (p.Val3116Phe)
c.9268G>T (p.Val3090Phe)
c.6652G>T (p.Val2218Phe)
n.272-822C>A
c.9370G>T (p.Val3124Phe)
c.9367G>T (p.Val3123Phe)
c.9289G>T (p.Val3097Phe)
c.9274G>T (p.Val3092Phe)
c.2488G>T (p.Val830Phe)
c.2467G>T (p.Val823Phe)
n.2523-822C>A
n.9365G>T
5g.90716632T>ACA360397484ADGRV1c.9350T>A (p.Val3117Asp)
c.265+40423T>A (n.265+40423T>A)
n.4809T>A
c.3157T>A
n.2494T>A
c.4079T>A
c.2047T>A
n.9363T>A
c.9347T>A (p.Val3116Asp)
c.9269T>A (p.Val3090Asp)
c.6653T>A (p.Val2218Asp)
n.272-823A>T
c.9371T>A (p.Val3124Asp)
c.9368T>A (p.Val3123Asp)
c.9290T>A (p.Val3097Asp)
c.9275T>A (p.Val3092Asp)
c.2489T>A (p.Val830Asp)
c.2468T>A (p.Val823Asp)
n.2523-823A>T
n.9366T>A
5g.90716632T>CCA360397485ADGRV1c.9350T>C (p.Val3117Ala)
c.265+40423T>C (n.265+40423T>C)
n.4809T>C
c.3157T>C
n.2494T>C
c.4079T>C
c.2047T>C
n.9363T>C
c.9347T>C (p.Val3116Ala)
c.9269T>C (p.Val3090Ala)
c.6653T>C (p.Val2218Ala)
n.272-823A>G
c.9371T>C (p.Val3124Ala)
c.9368T>C (p.Val3123Ala)
c.9290T>C (p.Val3097Ala)
c.9275T>C (p.Val3092Ala)
c.2489T>C (p.Val830Ala)
c.2468T>C (p.Val823Ala)
n.2523-823A>G
n.9366T>C
 gnomAD v4
5g.90716632T>GCA360397486ADGRV1c.9350T>G (p.Val3117Gly)
c.265+40423T>G (n.265+40423T>G)
n.4809T>G
c.3157T>G
n.2494T>G
c.4079T>G
c.2047T>G
n.9363T>G
c.9347T>G (p.Val3116Gly)
c.9269T>G (p.Val3090Gly)
c.6653T>G (p.Val2218Gly)
n.272-823A>C
c.9371T>G (p.Val3124Gly)
c.9368T>G (p.Val3123Gly)
c.9290T>G (p.Val3097Gly)
c.9275T>G (p.Val3092Gly)
c.2489T>G (p.Val830Gly)
c.2468T>G (p.Val823Gly)
n.2523-823A>C
n.9366T>G
 dbSNP
5g.90716632T=CA1562870616ADGRV1c.9350T= (p.Val3117=)
c.265+40423T= (n.265+40423T=)
n.4809T=
c.3157T=
n.2494T=
c.4079T=
c.2047T=
n.9363T=
c.9347T= (p.Val3116=)
c.9269T= (p.Val3090=)
c.6653T= (p.Val2218=)
n.272-823A=
c.9371T= (p.Val3124=)
c.9368T= (p.Val3123=)
c.9290T= (p.Val3097=)
c.9275T= (p.Val3092=)
c.2489T= (p.Val830=)
c.2468T= (p.Val823=)
n.2523-823A=
n.9366T=
5g.90716633T>ACA445413743ADGRV1c.9351T>A (p.Val3117=)
c.265+40424T>A (n.265+40424T>A)
n.4810T>A
c.3158T>A
n.2495T>A
c.4080T>A
c.2048T>A
n.9364T>A
c.9348T>A (p.Val3116=)
c.9270T>A (p.Val3090=)
c.6654T>A (p.Val2218=)
n.272-824A>T
c.9372T>A (p.Val3124=)
c.9369T>A (p.Val3123=)
c.9291T>A (p.Val3097=)
c.9276T>A (p.Val3092=)
c.2490T>A (p.Val830=)
c.2469T>A (p.Val823=)
n.2523-824A>T
n.9367T>A
5g.90716633T>CCA445413746ADGRV1c.9351T>C (p.Val3117=)
c.265+40424T>C (n.265+40424T>C)
n.4810T>C
c.3158T>C
n.2495T>C
c.4080T>C
c.2048T>C
n.9364T>C
c.9348T>C (p.Val3116=)
c.9270T>C (p.Val3090=)
c.6654T>C (p.Val2218=)
n.272-824A>G
c.9372T>C (p.Val3124=)
c.9369T>C (p.Val3123=)
c.9291T>C (p.Val3097=)
c.9276T>C (p.Val3092=)
c.2490T>C (p.Val830=)
c.2469T>C (p.Val823=)
n.2523-824A>G
n.9367T>C
5g.90716633T>GCA445413744ADGRV1c.9351T>G (p.Val3117=)
c.265+40424T>G (n.265+40424T>G)
n.4810T>G
c.3158T>G
n.2495T>G
c.4080T>G
c.2048T>G
n.9364T>G
c.9348T>G (p.Val3116=)
c.9270T>G (p.Val3090=)
c.6654T>G (p.Val2218=)
n.272-824A>C
c.9372T>G (p.Val3124=)
c.9369T>G (p.Val3123=)
c.9291T>G (p.Val3097=)
c.9276T>G (p.Val3092=)
c.2490T>G (p.Val830=)
c.2469T>G (p.Val823=)
n.2523-824A>C
n.9367T>G
5g.90716634C>ACA360397488ADGRV1c.9352C>A (p.Gln3118Lys)
c.265+40425C>A (n.265+40425C>A)
n.4811C>A
c.3159C>A
n.2496C>A
c.4081C>A
c.2049C>A
n.9365C>A
c.9349C>A (p.Gln3117Lys)
c.9271C>A (p.Gln3091Lys)
c.6655C>A (p.Gln2219Lys)
n.272-825G>T
c.9373C>A (p.Gln3125Lys)
c.9370C>A (p.Gln3124Lys)
c.9292C>A (p.Gln3098Lys)
c.9277C>A (p.Gln3093Lys)
c.2491C>A (p.Gln831Lys)
c.2470C>A (p.Gln824Lys)
n.2523-825G>T
n.9368C>A
5g.90716634C>GCA360397490ADGRV1c.9352C>G (p.Gln3118Glu)
c.265+40425C>G (n.265+40425C>G)
n.4811C>G
c.3159C>G
n.2496C>G
c.4081C>G
c.2049C>G
n.9365C>G
c.9349C>G (p.Gln3117Glu)
c.9271C>G (p.Gln3091Glu)
c.6655C>G (p.Gln2219Glu)
n.272-825G>C
c.9373C>G (p.Gln3125Glu)
c.9370C>G (p.Gln3124Glu)
c.9292C>G (p.Gln3098Glu)
c.9277C>G (p.Gln3093Glu)
c.2491C>G (p.Gln831Glu)
c.2470C>G (p.Gln824Glu)
n.2523-825G>C
n.9368C>G
 gnomAD v4
5g.90716634C>TCA360397491ADGRV1c.9352C>T (p.Gln3118Ter)
c.265+40425C>T (n.265+40425C>T)
n.4811C>T
c.3159C>T
n.2496C>T
c.4081C>T
c.2049C>T
n.9365C>T
c.9349C>T (p.Gln3117Ter)
c.9271C>T (p.Gln3091Ter)
c.6655C>T (p.Gln2219Ter)
n.272-825G>A
c.9373C>T (p.Gln3125Ter)
c.9370C>T (p.Gln3124Ter)
c.9292C>T (p.Gln3098Ter)
c.9277C>T (p.Gln3093Ter)
c.2491C>T (p.Gln831Ter)
c.2470C>T (p.Gln824Ter)
n.2523-825G>A
n.9368C>T
 COSMIC
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
 ClinVar
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.90716647_90716655delCA2767420173ADGRV1c.9365_9373del (p.Thr3122_Val3124del)
c.265+40438_265+40446del (n.265+40438_265+40446del)
n.4824_4832del
c.3172_3180del
n.2509_2517del
c.4094_4102del
c.2062_2070del
n.9378_9386del
c.9362_9370del (p.Thr3121_Val3123del)
c.9284_9292del (p.Thr3095_Val3097del)
c.6668_6676del (p.Thr2223_Val2225del)
n.272-842_272-834del
c.9386_9394del (p.Thr3129_Val3131del)
c.9383_9391del (p.Thr3128_Val3130del)
c.9305_9313del (p.Thr3102_Val3104del)
c.9290_9298del (p.Thr3097_Val3099del)
c.2504_2512del (p.Thr835_Val837del)
c.2483_2491del (p.Thr828_Val830del)
n.2523-842_2523-834del
n.9381_9389del
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
5g.90716650A>CCA360397551ADGRV1c.9368A>C (p.Glu3123Ala)
c.265+40441A>C (n.265+40441A>C)
n.4827A>C
c.3175A>C
n.2512A>C
c.4097A>C
c.2065A>C
n.9381A>C
c.9365A>C (p.Glu3122Ala)
c.9287A>C (p.Glu3096Ala)
c.6671A>C (p.Glu2224Ala)
n.272-841T>G
c.9389A>C (p.Glu3130Ala)
c.9386A>C (p.Glu3129Ala)
c.9308A>C (p.Glu3103Ala)
c.9293A>C (p.Glu3098Ala)
c.2507A>C (p.Glu836Ala)
c.2486A>C (p.Glu829Ala)
n.2523-841T>G
n.9384A>C
5g.90716650A>GCA360397548ADGRV1c.9368A>G (p.Glu3123Gly)
c.265+40441A>G (n.265+40441A>G)
n.4827A>G
c.3175A>G
n.2512A>G
c.4097A>G
c.2065A>G
n.9381A>G
c.9365A>G (p.Glu3122Gly)
c.9287A>G (p.Glu3096Gly)
c.6671A>G (p.Glu2224Gly)
n.272-841T>C
c.9389A>G (p.Glu3130Gly)
c.9386A>G (p.Glu3129Gly)
c.9308A>G (p.Glu3103Gly)
c.9293A>G (p.Glu3098Gly)
c.2507A>G (p.Glu836Gly)
c.2486A>G (p.Glu829Gly)
n.2523-841T>C
n.9384A>G
5g.90716650A>TCA360397549ADGRV1c.9368A>T (p.Glu3123Val)
c.265+40441A>T (n.265+40441A>T)
n.4827A>T
c.3175A>T
n.2512A>T
c.4097A>T
c.2065A>T
n.9381A>T
c.9365A>T (p.Glu3122Val)
c.9287A>T (p.Glu3096Val)
c.6671A>T (p.Glu2224Val)
n.272-841T>A
c.9389A>T (p.Glu3130Val)
c.9386A>T (p.Glu3129Val)
c.9308A>T (p.Glu3103Val)
c.9293A>T (p.Glu3098Val)
c.2507A>T (p.Glu836Val)
c.2486A>T (p.Glu829Val)
n.2523-841T>A
n.9384A>T
5g.90716651A>CCA360397553ADGRV1c.9369A>C (p.Glu3123Asp)
c.265+40442A>C (n.265+40442A>C)
n.4828A>C
c.3176A>C
n.2513A>C
c.4098A>C
c.2066A>C
n.9382A>C
c.9366A>C (p.Glu3122Asp)
c.9288A>C (p.Glu3096Asp)
c.6672A>C (p.Glu2224Asp)
n.272-842T>G
c.9390A>C (p.Glu3130Asp)
c.9387A>C (p.Glu3129Asp)
c.9309A>C (p.Glu3103Asp)
c.9294A>C (p.Glu3098Asp)
c.2508A>C (p.Glu836Asp)
c.2487A>C (p.Glu829Asp)
n.2523-842T>G
n.9385A>C
5g.90716651A>GCA445413799ADGRV1c.9369A>G (p.Glu3123=)
c.265+40442A>G (n.265+40442A>G)
n.4828A>G
c.3176A>G
n.2513A>G
c.4098A>G
c.2066A>G
n.9382A>G
c.9366A>G (p.Glu3122=)
c.9288A>G (p.Glu3096=)
c.6672A>G (p.Glu2224=)
n.272-842T>C
c.9390A>G (p.Glu3130=)
c.9387A>G (p.Glu3129=)
c.9309A>G (p.Glu3103=)
c.9294A>G (p.Glu3098=)
c.2508A>G (p.Glu836=)
c.2487A>G (p.Glu829=)
n.2523-842T>C
n.9385A>G
5g.90716651A>TCA360397554ADGRV1c.9369A>T (p.Glu3123Asp)
c.265+40442A>T (n.265+40442A>T)
n.4828A>T
c.3176A>T
n.2513A>T
c.4098A>T
c.2066A>T
n.9382A>T
c.9366A>T (p.Glu3122Asp)
c.9288A>T (p.Glu3096Asp)
c.6672A>T (p.Glu2224Asp)
n.272-842T>A
c.9390A>T (p.Glu3130Asp)
c.9387A>T (p.Glu3129Asp)
c.9309A>T (p.Glu3103Asp)
c.9294A>T (p.Glu3098Asp)
c.2508A>T (p.Glu836Asp)
c.2487A>T (p.Glu829Asp)
n.2523-842T>A
n.9385A>T
5g.90716652G>ACA360397556ADGRV1c.9370G>A (p.Val3124Met)
c.265+40443G>A (n.265+40443G>A)
n.4829G>A
c.3177G>A
n.2514G>A
c.4099G>A
c.2067G>A
n.9383G>A
c.9367G>A (p.Val3123Met)
c.9289G>A (p.Val3097Met)
c.6673G>A (p.Val2225Met)
n.272-843C>T
c.9391G>A (p.Val3131Met)
c.9388G>A (p.Val3130Met)
c.9310G>A (p.Val3104Met)
c.9295G>A (p.Val3099Met)
c.2509G>A (p.Val837Met)
c.2488G>A (p.Val830Met)
n.2523-843C>T
n.9386G>A
5g.90716652G>CCA360397558ADGRV1c.9370G>C (p.Val3124Leu)
c.265+40443G>C (n.265+40443G>C)
n.4829G>C
c.3177G>C
n.2514G>C
c.4099G>C
c.2067G>C
n.9383G>C
c.9367G>C (p.Val3123Leu)
c.9289G>C (p.Val3097Leu)
c.6673G>C (p.Val2225Leu)
n.272-843C>G
c.9391G>C (p.Val3131Leu)
c.9388G>C (p.Val3130Leu)
c.9310G>C (p.Val3104Leu)
c.9295G>C (p.Val3099Leu)
c.2509G>C (p.Val837Leu)
c.2488G>C (p.Val830Leu)
n.2523-843C>G
n.9386G>C
5g.90716652G>TCA360397559ADGRV1c.9370G>T (p.Val3124Leu)
c.265+40443G>T (n.265+40443G>T)
n.4829G>T
c.3177G>T
n.2514G>T
c.4099G>T
c.2067G>T
n.9383G>T
c.9367G>T (p.Val3123Leu)
c.9289G>T (p.Val3097Leu)
c.6673G>T (p.Val2225Leu)
n.272-843C>A
c.9391G>T (p.Val3131Leu)
c.9388G>T (p.Val3130Leu)
c.9310G>T (p.Val3104Leu)
c.9295G>T (p.Val3099Leu)
c.2509G>T (p.Val837Leu)
c.2488G>T (p.Val830Leu)
n.2523-843C>A
n.9386G>T
5g.90716653T>ACA360397561ADGRV1c.9371T>A (p.Val3124Glu)
c.265+40444T>A (n.265+40444T>A)
n.4830T>A
c.3178T>A
n.2515T>A
c.4100T>A
c.2068T>A
n.9384T>A
c.9368T>A (p.Val3123Glu)
c.9290T>A (p.Val3097Glu)
c.6674T>A (p.Val2225Glu)
n.272-844A>T
c.9392T>A (p.Val3131Glu)
c.9389T>A (p.Val3130Glu)
c.9311T>A (p.Val3104Glu)
c.9296T>A (p.Val3099Glu)
c.2510T>A (p.Val837Glu)
c.2489T>A (p.Val830Glu)
n.2523-844A>T
n.9387T>A
5g.90716653T>CCA360397562ADGRV1c.9371T>C (p.Val3124Ala)
c.265+40444T>C (n.265+40444T>C)
n.4830T>C
c.3178T>C
n.2515T>C
c.4100T>C
c.2068T>C
n.9384T>C
c.9368T>C (p.Val3123Ala)
c.9290T>C (p.Val3097Ala)
c.6674T>C (p.Val2225Ala)
n.272-844A>G
c.9392T>C (p.Val3131Ala)
c.9389T>C (p.Val3130Ala)
c.9311T>C (p.Val3104Ala)
c.9296T>C (p.Val3099Ala)
c.2510T>C (p.Val837Ala)
c.2489T>C (p.Val830Ala)
n.2523-844A>G
n.9387T>C
5g.90716653T>GCA360397564ADGRV1c.9371T>G (p.Val3124Gly)
c.265+40444T>G (n.265+40444T>G)
n.4830T>G
c.3178T>G
n.2515T>G
c.4100T>G
c.2068T>G
n.9384T>G
c.9368T>G (p.Val3123Gly)
c.9290T>G (p.Val3097Gly)
c.6674T>G (p.Val2225Gly)
n.272-844A>C
c.9392T>G (p.Val3131Gly)
c.9389T>G (p.Val3130Gly)
c.9311T>G (p.Val3104Gly)
c.9296T>G (p.Val3099Gly)
c.2510T>G (p.Val837Gly)
c.2489T>G (p.Val830Gly)
n.2523-844A>C
n.9387T>G
5g.90716654G>ACA445413807ADGRV1c.9372G>A (p.Val3124=)
c.265+40445G>A (n.265+40445G>A)
n.4831G>A
c.3179G>A
n.2516G>A
c.4101G>A
c.2069G>A
n.9385G>A
c.9369G>A (p.Val3123=)
c.9291G>A (p.Val3097=)
c.6675G>A (p.Val2225=)
n.272-845C>T
c.9393G>A (p.Val3131=)
c.9390G>A (p.Val3130=)
c.9312G>A (p.Val3104=)
c.9297G>A (p.Val3099=)
c.2511G>A (p.Val837=)
c.2490G>A (p.Val830=)
n.2523-845C>T
n.9388G>A
 COSMIC
5g.90716654G>CCA445413809ADGRV1c.9372G>C (p.Val3124=)
c.265+40445G>C (n.265+40445G>C)
n.4831G>C
c.3179G>C
n.2516G>C
c.4101G>C
c.2069G>C
n.9385G>C
c.9369G>C (p.Val3123=)
c.9291G>C (p.Val3097=)
c.6675G>C (p.Val2225=)
n.272-845C>G
c.9393G>C (p.Val3131=)
c.9390G>C (p.Val3130=)
c.9312G>C (p.Val3104=)
c.9297G>C (p.Val3099=)
c.2511G>C (p.Val837=)
c.2490G>C (p.Val830=)
n.2523-845C>G
n.9388G>C
5g.90716654G>TCA445413810ADGRV1c.9372G>T (p.Val3124=)
c.265+40445G>T (n.265+40445G>T)
n.4831G>T
c.3179G>T
n.2516G>T
c.4101G>T
c.2069G>T
n.9385G>T
c.9369G>T (p.Val3123=)
c.9291G>T (p.Val3097=)
c.6675G>T (p.Val2225=)
n.272-845C>A
c.9393G>T (p.Val3131=)
c.9390G>T (p.Val3130=)
c.9312G>T (p.Val3104=)
c.9297G>T (p.Val3099=)
c.2511G>T (p.Val837=)
c.2490G>T (p.Val830=)
n.2523-845C>A
n.9388G>T
5g.90716655A>CCA360397565ADGRV1c.9373A>C (p.Asn3125His)
c.265+40446A>C (n.265+40446A>C)
n.4832A>C
c.3180A>C
n.2517A>C
c.4102A>C
c.2070A>C
n.9386A>C
c.9370A>C (p.Asn3124His)
c.9292A>C (p.Asn3098His)
c.6676A>C (p.Asn2226His)
n.272-846T>G
c.9394A>C (p.Asn3132His)
c.9391A>C (p.Asn3131His)
c.9313A>C (p.Asn3105His)
c.9298A>C (p.Asn3100His)
c.2512A>C (p.Asn838His)
c.2491A>C (p.Asn831His)
n.2523-846T>G
n.9389A>C
5g.90716655A>GCA360397567ADGRV1c.9373A>G (p.Asn3125Asp)
c.265+40446A>G (n.265+40446A>G)
n.4832A>G
c.3180A>G
n.2517A>G
c.4102A>G
c.2070A>G
n.9386A>G
c.9370A>G (p.Asn3124Asp)
c.9292A>G (p.Asn3098Asp)
c.6676A>G (p.Asn2226Asp)
n.272-846T>C
c.9394A>G (p.Asn3132Asp)
c.9391A>G (p.Asn3131Asp)
c.9313A>G (p.Asn3105Asp)
c.9298A>G (p.Asn3100Asp)
c.2512A>G (p.Asn838Asp)
c.2491A>G (p.Asn831Asp)
n.2523-846T>C
n.9389A>G
5g.90716655A>TCA360397568ADGRV1c.9373A>T (p.Asn3125Tyr)
c.265+40446A>T (n.265+40446A>T)
n.4832A>T
c.3180A>T
n.2517A>T
c.4102A>T
c.2070A>T
n.9386A>T
c.9370A>T (p.Asn3124Tyr)
c.9292A>T (p.Asn3098Tyr)
c.6676A>T (p.Asn2226Tyr)
n.272-846T>A
c.9394A>T (p.Asn3132Tyr)
c.9391A>T (p.Asn3131Tyr)
c.9313A>T (p.Asn3105Tyr)
c.9298A>T (p.Asn3100Tyr)
c.2512A>T (p.Asn838Tyr)
c.2491A>T (p.Asn831Tyr)
n.2523-846T>A
n.9389A>T
 gnomAD v4
5g.90716656A>CCA360397574ADGRV1c.9374A>C (p.Asn3125Thr)
c.265+40447A>C (n.265+40447A>C)
n.4833A>C
c.3181A>C
n.2518A>C
c.4103A>C
c.2071A>C
n.9387A>C
c.9371A>C (p.Asn3124Thr)
c.9293A>C (p.Asn3098Thr)
c.6677A>C (p.Asn2226Thr)
n.272-847T>G
c.9395A>C (p.Asn3132Thr)
c.9392A>C (p.Asn3131Thr)
c.9314A>C (p.Asn3105Thr)
c.9299A>C (p.Asn3100Thr)
c.2513A>C (p.Asn838Thr)
c.2492A>C (p.Asn831Thr)
n.2523-847T>G
n.9390A>C
5g.90716656A>GCA360397570ADGRV1c.9374A>G (p.Asn3125Ser)
c.265+40447A>G (n.265+40447A>G)
n.4833A>G
c.3181A>G
n.2518A>G
c.4103A>G
c.2071A>G
n.9387A>G
c.9371A>G (p.Asn3124Ser)
c.9293A>G (p.Asn3098Ser)
c.6677A>G (p.Asn2226Ser)
n.272-847T>C
c.9395A>G (p.Asn3132Ser)
c.9392A>G (p.Asn3131Ser)
c.9314A>G (p.Asn3105Ser)
c.9299A>G (p.Asn3100Ser)
c.2513A>G (p.Asn838Ser)
c.2492A>G (p.Asn831Ser)
n.2523-847T>C
n.9390A>G
5g.90716656A>TCA360397572ADGRV1c.9374A>T (p.Asn3125Ile)
c.265+40447A>T (n.265+40447A>T)
n.4833A>T
c.3181A>T
n.2518A>T
c.4103A>T
c.2071A>T
n.9387A>T
c.9371A>T (p.Asn3124Ile)
c.9293A>T (p.Asn3098Ile)
c.6677A>T (p.Asn2226Ile)
n.272-847T>A
c.9395A>T (p.Asn3132Ile)
c.9392A>T (p.Asn3131Ile)
c.9314A>T (p.Asn3105Ile)
c.9299A>T (p.Asn3100Ile)
c.2513A>T (p.Asn838Ile)
c.2492A>T (p.Asn831Ile)
n.2523-847T>A
n.9390A>T
 gnomAD v4
5g.90716657T>ACA360397576ADGRV1c.9375T>A (p.Asn3125Lys)
c.265+40448T>A (n.265+40448T>A)
n.4834T>A
c.3182T>A
n.2519T>A
c.4104T>A
c.2072T>A
n.9388T>A
c.9372T>A (p.Asn3124Lys)
c.9294T>A (p.Asn3098Lys)
c.6678T>A (p.Asn2226Lys)
n.272-848A>T
c.9396T>A (p.Asn3132Lys)
c.9393T>A (p.Asn3131Lys)
c.9315T>A (p.Asn3105Lys)
c.9300T>A (p.Asn3100Lys)
c.2514T>A (p.Asn838Lys)
c.2493T>A (p.Asn831Lys)
n.2523-848A>T
n.9391T>A
5g.90716657T>CCA445413813ADGRV1c.9375T>C (p.Asn3125=)
c.265+40448T>C (n.265+40448T>C)
n.4834T>C
c.3182T>C
n.2519T>C
c.4104T>C
c.2072T>C
n.9388T>C
c.9372T>C (p.Asn3124=)
c.9294T>C (p.Asn3098=)
c.6678T>C (p.Asn2226=)
n.272-848A>G
c.9396T>C (p.Asn3132=)
c.9393T>C (p.Asn3131=)
c.9315T>C (p.Asn3105=)
c.9300T>C (p.Asn3100=)
c.2514T>C (p.Asn838=)
c.2493T>C (p.Asn831=)
n.2523-848A>G
n.9391T>C
5g.90716657T>GCA360397577ADGRV1c.9375T>G (p.Asn3125Lys)
c.265+40448T>G (n.265+40448T>G)
n.4834T>G
c.3182T>G
n.2519T>G
c.4104T>G
c.2072T>G
n.9388T>G
c.9372T>G (p.Asn3124Lys)
c.9294T>G (p.Asn3098Lys)
c.6678T>G (p.Asn2226Lys)
n.272-848A>C
c.9396T>G (p.Asn3132Lys)
c.9393T>G (p.Asn3131Lys)
c.9315T>G (p.Asn3105Lys)
c.9300T>G (p.Asn3100Lys)
c.2514T>G (p.Asn838Lys)
c.2493T>G (p.Asn831Lys)
n.2523-848A>C
n.9391T>G
5g.90716658T>ACA360397579ADGRV1c.9376T>A (p.Ser3126Thr)
c.265+40449T>A (n.265+40449T>A)
n.4835T>A
c.3183T>A
n.2520T>A
c.4105T>A
c.2073T>A
n.9389T>A
c.9373T>A (p.Ser3125Thr)
c.9295T>A (p.Ser3099Thr)
c.6679T>A (p.Ser2227Thr)
n.272-849A>T
c.9397T>A (p.Ser3133Thr)
c.9394T>A (p.Ser3132Thr)
c.9316T>A (p.Ser3106Thr)
c.9301T>A (p.Ser3101Thr)
c.2515T>A (p.Ser839Thr)
c.2494T>A (p.Ser832Thr)
n.2523-849A>T
n.9392T>A
5g.90716658T>CCA3340484ADGRV1c.9376T>C (p.Ser3126Pro)
c.265+40449T>C (n.265+40449T>C)
n.4835T>C
c.3183T>C
n.2520T>C
c.4105T>C
c.2073T>C
n.9389T>C
c.9373T>C (p.Ser3125Pro)
c.9295T>C (p.Ser3099Pro)
c.6679T>C (p.Ser2227Pro)
n.272-849A>G
c.9397T>C (p.Ser3133Pro)
c.9394T>C (p.Ser3132Pro)
c.9316T>C (p.Ser3106Pro)
c.9301T>C (p.Ser3101Pro)
c.2515T>C (p.Ser839Pro)
c.2494T>C (p.Ser832Pro)
n.2523-849A>G
n.9392T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716658T>GCA360397581ADGRV1c.9376T>G (p.Ser3126Ala)
c.265+40449T>G (n.265+40449T>G)
n.4835T>G
c.3183T>G
n.2520T>G
c.4105T>G
c.2073T>G
n.9389T>G
c.9373T>G (p.Ser3125Ala)
c.9295T>G (p.Ser3099Ala)
c.6679T>G (p.Ser2227Ala)
n.272-849A>C
c.9397T>G (p.Ser3133Ala)
c.9394T>G (p.Ser3132Ala)
c.9316T>G (p.Ser3106Ala)
c.9301T>G (p.Ser3101Ala)
c.2515T>G (p.Ser839Ala)
c.2494T>G (p.Ser832Ala)
n.2523-849A>C
n.9392T>G
5g.90716658T=CA1562870621ADGRV1c.9376T= (p.Ser3126=)
c.265+40449T= (n.265+40449T=)
n.4835T=
c.3183T=
n.2520T=
c.4105T=
c.2073T=
n.9389T=
c.9373T= (p.Ser3125=)
c.9295T= (p.Ser3099=)
c.6679T= (p.Ser2227=)
n.272-849A=
c.9397T= (p.Ser3133=)
c.9394T= (p.Ser3132=)
c.9316T= (p.Ser3106=)
c.9301T= (p.Ser3101=)
c.2515T= (p.Ser839=)
c.2494T= (p.Ser832=)
n.2523-849A=
n.9392T=
5g.90716659C>ACA360397583ADGRV1c.9377C>A (p.Ser3126Tyr)
c.265+40450C>A (n.265+40450C>A)
n.4836C>A
c.3184C>A
n.2521C>A
c.4106C>A
c.2074C>A
n.9390C>A
c.9374C>A (p.Ser3125Tyr)
c.9296C>A (p.Ser3099Tyr)
c.6680C>A (p.Ser2227Tyr)
n.272-850G>T
c.9398C>A (p.Ser3133Tyr)
c.9395C>A (p.Ser3132Tyr)
c.9317C>A (p.Ser3106Tyr)
c.9302C>A (p.Ser3101Tyr)
c.2516C>A (p.Ser839Tyr)
c.2495C>A (p.Ser832Tyr)
n.2523-850G>T
n.9393C>A
5g.90716659C>GCA360397585ADGRV1c.9377C>G (p.Ser3126Cys)
c.265+40450C>G (n.265+40450C>G)
n.4836C>G
c.3184C>G
n.2521C>G
c.4106C>G
c.2074C>G
n.9390C>G
c.9374C>G (p.Ser3125Cys)
c.9296C>G (p.Ser3099Cys)
c.6680C>G (p.Ser2227Cys)
n.272-850G>C
c.9398C>G (p.Ser3133Cys)
c.9395C>G (p.Ser3132Cys)
c.9317C>G (p.Ser3106Cys)
c.9302C>G (p.Ser3101Cys)
c.2516C>G (p.Ser839Cys)
c.2495C>G (p.Ser832Cys)
n.2523-850G>C
n.9393C>G
5g.90716659C>TCA360397586ADGRV1c.9377C>T (p.Ser3126Phe)
c.265+40450C>T (n.265+40450C>T)
n.4836C>T
c.3184C>T
n.2521C>T
c.4106C>T
c.2074C>T
n.9390C>T
c.9374C>T (p.Ser3125Phe)
c.9296C>T (p.Ser3099Phe)
c.6680C>T (p.Ser2227Phe)
n.272-850G>A
c.9398C>T (p.Ser3133Phe)
c.9395C>T (p.Ser3132Phe)
c.9317C>T (p.Ser3106Phe)
c.9302C>T (p.Ser3101Phe)
c.2516C>T (p.Ser839Phe)
c.2495C>T (p.Ser832Phe)
n.2523-850G>A
n.9393C>T
 gnomAD v4
5g.90716660C>ACA445413826ADGRV1c.9378C>A (p.Ser3126=)
c.265+40451C>A (n.265+40451C>A)
n.4837C>A
c.3185C>A
n.2522C>A
c.4107C>A
c.2075C>A
n.9391C>A
c.9375C>A (p.Ser3125=)
c.9297C>A (p.Ser3099=)
c.6681C>A (p.Ser2227=)
n.272-851G>T
c.9399C>A (p.Ser3133=)
c.9396C>A (p.Ser3132=)
c.9318C>A (p.Ser3106=)
c.9303C>A (p.Ser3101=)
c.2517C>A (p.Ser839=)
c.2496C>A (p.Ser832=)
n.2523-851G>T
n.9394C>A
5g.90716660C>GCA445413828ADGRV1c.9378C>G (p.Ser3126=)
c.265+40451C>G (n.265+40451C>G)
n.4837C>G
c.3185C>G
n.2522C>G
c.4107C>G
c.2075C>G
n.9391C>G
c.9375C>G (p.Ser3125=)
c.9297C>G (p.Ser3099=)
c.6681C>G (p.Ser2227=)
n.272-851G>C
c.9399C>G (p.Ser3133=)
c.9396C>G (p.Ser3132=)
c.9318C>G (p.Ser3106=)
c.9303C>G (p.Ser3101=)
c.2517C>G (p.Ser839=)
c.2496C>G (p.Ser832=)
n.2523-851G>C
n.9394C>G
5g.90716660C>TCA445413830ADGRV1c.9378C>T (p.Ser3126=)
c.265+40451C>T (n.265+40451C>T)
n.4837C>T
c.3185C>T
n.2522C>T
c.4107C>T
c.2075C>T
n.9391C>T
c.9375C>T (p.Ser3125=)
c.9297C>T (p.Ser3099=)
c.6681C>T (p.Ser2227=)
n.272-851G>A
c.9399C>T (p.Ser3133=)
c.9396C>T (p.Ser3132=)
c.9318C>T (p.Ser3106=)
c.9303C>T (p.Ser3101=)
c.2517C>T (p.Ser839=)
c.2496C>T (p.Ser832=)
n.2523-851G>A
n.9394C>T
5g.90716661T>ACA360397587ADGRV1c.9379T>A (p.Ser3127Thr)
c.265+40452T>A (n.265+40452T>A)
n.4838T>A
c.3186T>A
n.2523T>A
c.4108T>A
c.2076T>A
n.9392T>A
c.9376T>A (p.Ser3126Thr)
c.9298T>A (p.Ser3100Thr)
c.6682T>A (p.Ser2228Thr)
n.272-852A>T
c.9400T>A (p.Ser3134Thr)
c.9397T>A (p.Ser3133Thr)
c.9319T>A (p.Ser3107Thr)
c.9304T>A (p.Ser3102Thr)
c.2518T>A (p.Ser840Thr)
c.2497T>A (p.Ser833Thr)
n.2523-852A>T
n.9395T>A
5g.90716661T>CCA360397589ADGRV1c.9379T>C (p.Ser3127Pro)
c.265+40452T>C (n.265+40452T>C)
n.4838T>C
c.3186T>C
n.2523T>C
c.4108T>C
c.2076T>C
n.9392T>C
c.9376T>C (p.Ser3126Pro)
c.9298T>C (p.Ser3100Pro)
c.6682T>C (p.Ser2228Pro)
n.272-852A>G
c.9400T>C (p.Ser3134Pro)
c.9397T>C (p.Ser3133Pro)
c.9319T>C (p.Ser3107Pro)
c.9304T>C (p.Ser3102Pro)
c.2518T>C (p.Ser840Pro)
c.2497T>C (p.Ser833Pro)
n.2523-852A>G
n.9395T>C
5g.90716661T>GCA360397591ADGRV1c.9379T>G (p.Ser3127Ala)
c.265+40452T>G (n.265+40452T>G)
n.4838T>G
c.3186T>G
n.2523T>G
c.4108T>G
c.2076T>G
n.9392T>G
c.9376T>G (p.Ser3126Ala)
c.9298T>G (p.Ser3100Ala)
c.6682T>G (p.Ser2228Ala)
n.272-852A>C
c.9400T>G (p.Ser3134Ala)
c.9397T>G (p.Ser3133Ala)
c.9319T>G (p.Ser3107Ala)
c.9304T>G (p.Ser3102Ala)
c.2518T>G (p.Ser840Ala)
c.2497T>G (p.Ser833Ala)
n.2523-852A>C
n.9395T>G
5g.90716662C>ACA360397596ADGRV1c.9380C>A (p.Ser3127Ter)
c.265+40453C>A (n.265+40453C>A)
n.4839C>A
c.3187C>A
n.2524C>A
c.4109C>A
c.2077C>A
n.9393C>A
c.9377C>A (p.Ser3126Ter)
c.9299C>A (p.Ser3100Ter)
c.6683C>A (p.Ser2228Ter)
n.272-853G>T
c.9401C>A (p.Ser3134Ter)
c.9398C>A (p.Ser3133Ter)
c.9320C>A (p.Ser3107Ter)
c.9305C>A (p.Ser3102Ter)
c.2519C>A (p.Ser840Ter)
c.2498C>A (p.Ser833Ter)
n.2523-853G>T
n.9396C>A
5g.90716662C=CA1562870622ADGRV1c.9380C= (p.Ser3127=)
c.265+40453C= (n.265+40453C=)
n.4839C=
c.3187C=
n.2524C=
c.4109C=
c.2077C=
n.9393C=
c.9377C= (p.Ser3126=)
c.9299C= (p.Ser3100=)
c.6683C= (p.Ser2228=)
n.272-853G=
c.9401C= (p.Ser3134=)
c.9398C= (p.Ser3133=)
c.9320C= (p.Ser3107=)
c.9305C= (p.Ser3102=)
c.2519C= (p.Ser840=)
c.2498C= (p.Ser833=)
n.2523-853G=
n.9396C=
5g.90716662C>GCA360397594ADGRV1c.9380C>G (p.Ser3127Ter)
c.265+40453C>G (n.265+40453C>G)
n.4839C>G
c.3187C>G
n.2524C>G
c.4109C>G
c.2077C>G
n.9393C>G
c.9377C>G (p.Ser3126Ter)
c.9299C>G (p.Ser3100Ter)
c.6683C>G (p.Ser2228Ter)
n.272-853G>C
c.9401C>G (p.Ser3134Ter)
c.9398C>G (p.Ser3133Ter)
c.9320C>G (p.Ser3107Ter)
c.9305C>G (p.Ser3102Ter)
c.2519C>G (p.Ser840Ter)
c.2498C>G (p.Ser833Ter)
n.2523-853G>C
n.9396C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90716662C>TCA360397593ADGRV1c.9380C>T (p.Ser3127Leu)
c.265+40453C>T (n.265+40453C>T)
n.4839C>T
c.3187C>T
n.2524C>T
c.4109C>T
c.2077C>T
n.9393C>T
c.9377C>T (p.Ser3126Leu)
c.9299C>T (p.Ser3100Leu)
c.6683C>T (p.Ser2228Leu)
n.272-853G>A
c.9401C>T (p.Ser3134Leu)
c.9398C>T (p.Ser3133Leu)
c.9320C>T (p.Ser3107Leu)
c.9305C>T (p.Ser3102Leu)
c.2519C>T (p.Ser840Leu)
c.2498C>T (p.Ser833Leu)
n.2523-853G>A
n.9396C>T
 gnomAD v4
5g.90716663A>CCA445413839ADGRV1c.9381A>C (p.Ser3127=)
c.265+40454A>C (n.265+40454A>C)
n.4840A>C
c.3188A>C
n.2525A>C
c.4110A>C
c.2078A>C
n.9394A>C
c.9378A>C (p.Ser3126=)
c.9300A>C (p.Ser3100=)
c.6684A>C (p.Ser2228=)
n.272-854T>G
c.9402A>C (p.Ser3134=)
c.9399A>C (p.Ser3133=)
c.9321A>C (p.Ser3107=)
c.9306A>C (p.Ser3102=)
c.2520A>C (p.Ser840=)
c.2499A>C (p.Ser833=)
n.2523-854T>G
n.9397A>C
5g.90716663A>GCA445413837ADGRV1c.9381A>G (p.Ser3127=)
c.265+40454A>G (n.265+40454A>G)
n.4840A>G
c.3188A>G
n.2525A>G
c.4110A>G
c.2078A>G
n.9394A>G
c.9378A>G (p.Ser3126=)
c.9300A>G (p.Ser3100=)
c.6684A>G (p.Ser2228=)
n.272-854T>C
c.9402A>G (p.Ser3134=)
c.9399A>G (p.Ser3133=)
c.9321A>G (p.Ser3107=)
c.9306A>G (p.Ser3102=)
c.2520A>G (p.Ser840=)
c.2499A>G (p.Ser833=)
n.2523-854T>C
n.9397A>G
5g.90716663A>TCA445413838ADGRV1c.9381A>T (p.Ser3127=)
c.265+40454A>T (n.265+40454A>T)
n.4840A>T
c.3188A>T
n.2525A>T
c.4110A>T
c.2078A>T
n.9394A>T
c.9378A>T (p.Ser3126=)
c.9300A>T (p.Ser3100=)
c.6684A>T (p.Ser2228=)
n.272-854T>A
c.9402A>T (p.Ser3134=)
c.9399A>T (p.Ser3133=)
c.9321A>T (p.Ser3107=)
c.9306A>T (p.Ser3102=)
c.2520A>T (p.Ser840=)
c.2499A>T (p.Ser833=)
n.2523-854T>A
n.9397A>T
5g.90716664A>CCA360397598ADGRV1c.9382A>C (p.Asn3128His)
c.265+40455A>C (n.265+40455A>C)
n.4841A>C
c.3189A>C
n.2526A>C
c.4111A>C
c.2079A>C
n.9395A>C
c.9379A>C (p.Asn3127His)
c.9301A>C (p.Asn3101His)
c.6685A>C (p.Asn2229His)
n.272-855T>G
c.9403A>C (p.Asn3135His)
c.9400A>C (p.Asn3134His)
c.9322A>C (p.Asn3108His)
c.9307A>C (p.Asn3103His)
c.2521A>C (p.Asn841His)
c.2500A>C (p.Asn834His)
n.2523-855T>G
n.9398A>C
5g.90716664A>GCA360397599ADGRV1c.9382A>G (p.Asn3128Asp)
c.265+40455A>G (n.265+40455A>G)
n.4841A>G
c.3189A>G
n.2526A>G
c.4111A>G
c.2079A>G
n.9395A>G
c.9379A>G (p.Asn3127Asp)
c.9301A>G (p.Asn3101Asp)
c.6685A>G (p.Asn2229Asp)
n.272-855T>C
c.9403A>G (p.Asn3135Asp)
c.9400A>G (p.Asn3134Asp)
c.9322A>G (p.Asn3108Asp)
c.9307A>G (p.Asn3103Asp)
c.2521A>G (p.Asn841Asp)
c.2500A>G (p.Asn834Asp)
n.2523-855T>C
n.9398A>G
5g.90716664A>TCA360397601ADGRV1c.9382A>T (p.Asn3128Tyr)
c.265+40455A>T (n.265+40455A>T)
n.4841A>T
c.3189A>T
n.2526A>T
c.4111A>T
c.2079A>T
n.9395A>T
c.9379A>T (p.Asn3127Tyr)
c.9301A>T (p.Asn3101Tyr)
c.6685A>T (p.Asn2229Tyr)
n.272-855T>A
c.9403A>T (p.Asn3135Tyr)
c.9400A>T (p.Asn3134Tyr)
c.9322A>T (p.Asn3108Tyr)
c.9307A>T (p.Asn3103Tyr)
c.2521A>T (p.Asn841Tyr)
c.2500A>T (p.Asn834Tyr)
n.2523-855T>A
n.9398A>T
5g.90716665A>CCA360397603ADGRV1c.9383A>C (p.Asn3128Thr)
c.265+40456A>C (n.265+40456A>C)
n.4842A>C
c.3190A>C
n.2527A>C
c.4112A>C
c.2080A>C
n.9396A>C
c.9380A>C (p.Asn3127Thr)
c.9302A>C (p.Asn3101Thr)
c.6686A>C (p.Asn2229Thr)
n.272-856T>G
c.9404A>C (p.Asn3135Thr)
c.9401A>C (p.Asn3134Thr)
c.9323A>C (p.Asn3108Thr)
c.9308A>C (p.Asn3103Thr)
c.2522A>C (p.Asn841Thr)
c.2501A>C (p.Asn834Thr)
n.2523-856T>G
n.9399A>C
5g.90716665A>GCA360397605ADGRV1c.9383A>G (p.Asn3128Ser)
c.265+40456A>G (n.265+40456A>G)
n.4842A>G
c.3190A>G
n.2527A>G
c.4112A>G
c.2080A>G
n.9396A>G
c.9380A>G (p.Asn3127Ser)
c.9302A>G (p.Asn3101Ser)
c.6686A>G (p.Asn2229Ser)
n.272-856T>C
c.9404A>G (p.Asn3135Ser)
c.9401A>G (p.Asn3134Ser)
c.9323A>G (p.Asn3108Ser)
c.9308A>G (p.Asn3103Ser)
c.2522A>G (p.Asn841Ser)
c.2501A>G (p.Asn834Ser)
n.2523-856T>C
n.9399A>G
5g.90716665A>TCA360397606ADGRV1c.9383A>T (p.Asn3128Ile)
c.265+40456A>T (n.265+40456A>T)
n.4842A>T
c.3190A>T
n.2527A>T
c.4112A>T
c.2080A>T
n.9396A>T
c.9380A>T (p.Asn3127Ile)
c.9302A>T (p.Asn3101Ile)
c.6686A>T (p.Asn2229Ile)
n.272-856T>A
c.9404A>T (p.Asn3135Ile)
c.9401A>T (p.Asn3134Ile)
c.9323A>T (p.Asn3108Ile)
c.9308A>T (p.Asn3103Ile)
c.2522A>T (p.Asn841Ile)
c.2501A>T (p.Asn834Ile)
n.2523-856T>A
n.9399A>T
5g.90716666T>ACA122805712ADGRV1c.9384T>A (p.Asn3128Lys)
c.265+40457T>A (n.265+40457T>A)
n.4843T>A
c.3191T>A
n.2528T>A
c.4113T>A
c.2081T>A
n.9397T>A
c.9381T>A (p.Asn3127Lys)
c.9303T>A (p.Asn3101Lys)
c.6687T>A (p.Asn2229Lys)
n.272-857A>T
c.9405T>A (p.Asn3135Lys)
c.9402T>A (p.Asn3134Lys)
c.9324T>A (p.Asn3108Lys)
c.9309T>A (p.Asn3103Lys)
c.2523T>A (p.Asn841Lys)
c.2502T>A (p.Asn834Lys)
n.2523-857A>T
n.9400T>A
 dbSNP
5g.90716666T>CCA445413854ADGRV1c.9384T>C (p.Asn3128=)
c.265+40457T>C (n.265+40457T>C)
n.4843T>C
c.3191T>C
n.2528T>C
c.4113T>C
c.2081T>C
n.9397T>C
c.9381T>C (p.Asn3127=)
c.9303T>C (p.Asn3101=)
c.6687T>C (p.Asn2229=)
n.272-857A>G
c.9405T>C (p.Asn3135=)
c.9402T>C (p.Asn3134=)
c.9324T>C (p.Asn3108=)
c.9309T>C (p.Asn3103=)
c.2523T>C (p.Asn841=)
c.2502T>C (p.Asn834=)
n.2523-857A>G
n.9400T>C
5g.90716666T>GCA360397608ADGRV1c.9384T>G (p.Asn3128Lys)
c.265+40457T>G (n.265+40457T>G)
n.4843T>G
c.3191T>G
n.2528T>G
c.4113T>G
c.2081T>G
n.9397T>G
c.9381T>G (p.Asn3127Lys)
c.9303T>G (p.Asn3101Lys)
c.6687T>G (p.Asn2229Lys)
n.272-857A>C
c.9405T>G (p.Asn3135Lys)
c.9402T>G (p.Asn3134Lys)
c.9324T>G (p.Asn3108Lys)
c.9309T>G (p.Asn3103Lys)
c.2523T>G (p.Asn841Lys)
c.2502T>G (p.Asn834Lys)
n.2523-857A>C
n.9400T>G
5g.90716666T=CA1562870623ADGRV1c.9384T= (p.Asn3128=)
c.265+40457T= (n.265+40457T=)
n.4843T=
c.3191T=
n.2528T=
c.4113T=
c.2081T=
n.9397T=
c.9381T= (p.Asn3127=)
c.9303T= (p.Asn3101=)
c.6687T= (p.Asn2229=)
n.272-857A=
c.9405T= (p.Asn3135=)
c.9402T= (p.Asn3134=)
c.9324T= (p.Asn3108=)
c.9309T= (p.Asn3103=)
c.2523T= (p.Asn841=)
c.2502T= (p.Asn834=)
n.2523-857A=
n.9400T=
5g.90716667G>ACA360397610ADGRV1c.9385G>A (p.Glu3129Lys)
c.265+40458G>A (n.265+40458G>A)
n.4844G>A
c.3192G>A
n.2529G>A
c.4114G>A
c.2082G>A
n.9398G>A
c.9382G>A (p.Glu3128Lys)
c.9304G>A (p.Glu3102Lys)
c.6688G>A (p.Glu2230Lys)
n.272-858C>T
c.9406G>A (p.Glu3136Lys)
c.9403G>A (p.Glu3135Lys)
c.9325G>A (p.Glu3109Lys)
c.9310G>A (p.Glu3104Lys)
c.2524G>A (p.Glu842Lys)
c.2503G>A (p.Glu835Lys)
n.2523-858C>T
n.9401G>A
 gnomAD v4
5g.90716667G>CCA360397611ADGRV1c.9385G>C (p.Glu3129Gln)
c.265+40458G>C (n.265+40458G>C)
n.4844G>C
c.3192G>C
n.2529G>C
c.4114G>C
c.2082G>C
n.9398G>C
c.9382G>C (p.Glu3128Gln)
c.9304G>C (p.Glu3102Gln)
c.6688G>C (p.Glu2230Gln)
n.272-858C>G
c.9406G>C (p.Glu3136Gln)
c.9403G>C (p.Glu3135Gln)
c.9325G>C (p.Glu3109Gln)
c.9310G>C (p.Glu3104Gln)
c.2524G>C (p.Glu842Gln)
c.2503G>C (p.Glu835Gln)
n.2523-858C>G
n.9401G>C
5g.90716667G>TCA360397612ADGRV1c.9385G>T (p.Glu3129Ter)
c.265+40458G>T (n.265+40458G>T)
n.4844G>T
c.3192G>T
n.2529G>T
c.4114G>T
c.2082G>T
n.9398G>T
c.9382G>T (p.Glu3128Ter)
c.9304G>T (p.Glu3102Ter)
c.6688G>T (p.Glu2230Ter)
n.272-858C>A
c.9406G>T (p.Glu3136Ter)
c.9403G>T (p.Glu3135Ter)
c.9325G>T (p.Glu3109Ter)
c.9310G>T (p.Glu3104Ter)
c.2524G>T (p.Glu842Ter)
c.2503G>T (p.Glu835Ter)
n.2523-858C>A
n.9401G>T
5g.90716668A>CCA360397614ADGRV1c.9386A>C (p.Glu3129Ala)
c.265+40459A>C (n.265+40459A>C)
n.4845A>C
c.3193A>C
n.2530A>C
c.4115A>C
c.2083A>C
n.9399A>C
c.9383A>C (p.Glu3128Ala)
c.9305A>C (p.Glu3102Ala)
c.6689A>C (p.Glu2230Ala)
n.272-859T>G
c.9407A>C (p.Glu3136Ala)
c.9404A>C (p.Glu3135Ala)
c.9326A>C (p.Glu3109Ala)
c.9311A>C (p.Glu3104Ala)
c.2525A>C (p.Glu842Ala)
c.2504A>C (p.Glu835Ala)
n.2523-859T>G
n.9402A>C
5g.90716668A>GCA360397616ADGRV1c.9386A>G (p.Glu3129Gly)
c.265+40459A>G (n.265+40459A>G)
n.4845A>G
c.3193A>G
n.2530A>G
c.4115A>G
c.2083A>G
n.9399A>G
c.9383A>G (p.Glu3128Gly)
c.9305A>G (p.Glu3102Gly)
c.6689A>G (p.Glu2230Gly)
n.272-859T>C
c.9407A>G (p.Glu3136Gly)
c.9404A>G (p.Glu3135Gly)
c.9326A>G (p.Glu3109Gly)
c.9311A>G (p.Glu3104Gly)
c.2525A>G (p.Glu842Gly)
c.2504A>G (p.Glu835Gly)
n.2523-859T>C
n.9402A>G
5g.90716668A>TCA360397617ADGRV1c.9386A>T (p.Glu3129Val)
c.265+40459A>T (n.265+40459A>T)
n.4845A>T
c.3193A>T
n.2530A>T
c.4115A>T
c.2083A>T
n.9399A>T
c.9383A>T (p.Glu3128Val)
c.9305A>T (p.Glu3102Val)
c.6689A>T (p.Glu2230Val)
n.272-859T>A
c.9407A>T (p.Glu3136Val)
c.9404A>T (p.Glu3135Val)
c.9326A>T (p.Glu3109Val)
c.9311A>T (p.Glu3104Val)
c.2525A>T (p.Glu842Val)
c.2504A>T (p.Glu835Val)
n.2523-859T>A
n.9402A>T
5g.90716669A=CA1562870624ADGRV1c.9387A= (p.Glu3129=)
c.265+40460A= (n.265+40460A=)
n.4846A=
c.3194A=
n.2531A=
c.4116A=
c.2084A=
n.9400A=
c.9384A= (p.Glu3128=)
c.9306A= (p.Glu3102=)
c.6690A= (p.Glu2230=)
n.272-860T=
c.9408A= (p.Glu3136=)
c.9405A= (p.Glu3135=)
c.9327A= (p.Glu3109=)
c.9312A= (p.Glu3104=)
c.2526A= (p.Glu842=)
c.2505A= (p.Glu835=)
n.2523-860T=
n.9403A=
5g.90716669A>CCA360397620ADGRV1c.9387A>C (p.Glu3129Asp)
c.265+40460A>C (n.265+40460A>C)
n.4846A>C
c.3194A>C
n.2531A>C
c.4116A>C
c.2084A>C
n.9400A>C
c.9384A>C (p.Glu3128Asp)
c.9306A>C (p.Glu3102Asp)
c.6690A>C (p.Glu2230Asp)
n.272-860T>G
c.9408A>C (p.Glu3136Asp)
c.9405A>C (p.Glu3135Asp)
c.9327A>C (p.Glu3109Asp)
c.9312A>C (p.Glu3104Asp)
c.2526A>C (p.Glu842Asp)
c.2505A>C (p.Glu835Asp)
n.2523-860T>G
n.9403A>C
5g.90716669A>GCA3340485ADGRV1c.9387A>G (p.Glu3129=)
c.265+40460A>G (n.265+40460A>G)
n.4846A>G
c.3194A>G
n.2531A>G
c.4116A>G
c.2084A>G
n.9400A>G
c.9384A>G (p.Glu3128=)
c.9306A>G (p.Glu3102=)
c.6690A>G (p.Glu2230=)
n.272-860T>C
c.9408A>G (p.Glu3136=)
c.9405A>G (p.Glu3135=)
c.9327A>G (p.Glu3109=)
c.9312A>G (p.Glu3104=)
c.2526A>G (p.Glu842=)
c.2505A>G (p.Glu835=)
n.2523-860T>C
n.9403A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716669A>TCA360397621ADGRV1c.9387A>T (p.Glu3129Asp)
c.265+40460A>T (n.265+40460A>T)
n.4846A>T
c.3194A>T
n.2531A>T
c.4116A>T
c.2084A>T
n.9400A>T
c.9384A>T (p.Glu3128Asp)
c.9306A>T (p.Glu3102Asp)
c.6690A>T (p.Glu2230Asp)
n.272-860T>A
c.9408A>T (p.Glu3136Asp)
c.9405A>T (p.Glu3135Asp)
c.9327A>T (p.Glu3109Asp)
c.9312A>T (p.Glu3104Asp)
c.2526A>T (p.Glu842Asp)
c.2505A>T (p.Glu835Asp)
n.2523-860T>A
n.9403A>T
5g.90716670T>ACA360397623ADGRV1c.9388T>A (p.Ser3130Thr)
c.265+40461T>A (n.265+40461T>A)
n.4847T>A
c.3195T>A
n.2532T>A
c.4117T>A
c.2085T>A
n.9401T>A
c.9385T>A (p.Ser3129Thr)
c.9307T>A (p.Ser3103Thr)
c.6691T>A (p.Ser2231Thr)
n.272-861A>T
c.9409T>A (p.Ser3137Thr)
c.9406T>A (p.Ser3136Thr)
c.9328T>A (p.Ser3110Thr)
c.9313T>A (p.Ser3105Thr)
c.2527T>A (p.Ser843Thr)
c.2506T>A (p.Ser836Thr)
n.2523-861A>T
n.9404T>A
5g.90716670T>CCA360397625ADGRV1c.9388T>C (p.Ser3130Pro)
c.265+40461T>C (n.265+40461T>C)
n.4847T>C
c.3195T>C
n.2532T>C
c.4117T>C
c.2085T>C
n.9401T>C
c.9385T>C (p.Ser3129Pro)
c.9307T>C (p.Ser3103Pro)
c.6691T>C (p.Ser2231Pro)
n.272-861A>G
c.9409T>C (p.Ser3137Pro)
c.9406T>C (p.Ser3136Pro)
c.9328T>C (p.Ser3110Pro)
c.9313T>C (p.Ser3105Pro)
c.2527T>C (p.Ser843Pro)
c.2506T>C (p.Ser836Pro)
n.2523-861A>G
n.9404T>C
5g.90716670T>GCA360397627ADGRV1c.9388T>G (p.Ser3130Ala)
c.265+40461T>G (n.265+40461T>G)
n.4847T>G
c.3195T>G
n.2532T>G
c.4117T>G
c.2085T>G
n.9401T>G
c.9385T>G (p.Ser3129Ala)
c.9307T>G (p.Ser3103Ala)
c.6691T>G (p.Ser2231Ala)
n.272-861A>C
c.9409T>G (p.Ser3137Ala)
c.9406T>G (p.Ser3136Ala)
c.9328T>G (p.Ser3110Ala)
c.9313T>G (p.Ser3105Ala)
c.2527T>G (p.Ser843Ala)
c.2506T>G (p.Ser836Ala)
n.2523-861A>C
n.9404T>G
5g.90716671C>ACA360397629ADGRV1c.9389C>A (p.Ser3130Tyr)
c.265+40462C>A (n.265+40462C>A)
n.4848C>A
c.3196C>A
n.2533C>A
c.4118C>A
c.2086C>A
n.9402C>A
c.9386C>A (p.Ser3129Tyr)
c.9308C>A (p.Ser3103Tyr)
c.6692C>A (p.Ser2231Tyr)
n.272-862G>T
c.9410C>A (p.Ser3137Tyr)
c.9407C>A (p.Ser3136Tyr)
c.9329C>A (p.Ser3110Tyr)
c.9314C>A (p.Ser3105Tyr)
c.2528C>A (p.Ser843Tyr)
c.2507C>A (p.Ser836Tyr)
n.2523-862G>T
n.9405C>A
5g.90716671C>GCA360397630ADGRV1c.9389C>G (p.Ser3130Cys)
c.265+40462C>G (n.265+40462C>G)
n.4848C>G
c.3196C>G
n.2533C>G
c.4118C>G
c.2086C>G
n.9402C>G
c.9386C>G (p.Ser3129Cys)
c.9308C>G (p.Ser3103Cys)
c.6692C>G (p.Ser2231Cys)
n.272-862G>C
c.9410C>G (p.Ser3137Cys)
c.9407C>G (p.Ser3136Cys)
c.9329C>G (p.Ser3110Cys)
c.9314C>G (p.Ser3105Cys)
c.2528C>G (p.Ser843Cys)
c.2507C>G (p.Ser836Cys)
n.2523-862G>C
n.9405C>G
5g.90716671C>TCA360397632ADGRV1c.9389C>T (p.Ser3130Phe)
c.265+40462C>T (n.265+40462C>T)
n.4848C>T
c.3196C>T
n.2533C>T
c.4118C>T
c.2086C>T
n.9402C>T
c.9386C>T (p.Ser3129Phe)
c.9308C>T (p.Ser3103Phe)
c.6692C>T (p.Ser2231Phe)
n.272-862G>A
c.9410C>T (p.Ser3137Phe)
c.9407C>T (p.Ser3136Phe)
c.9329C>T (p.Ser3110Phe)
c.9314C>T (p.Ser3105Phe)
c.2528C>T (p.Ser843Phe)
c.2507C>T (p.Ser836Phe)
n.2523-862G>A
n.9405C>T
5g.90716672T>ACA445413882ADGRV1c.9390T>A (p.Ser3130=)
c.265+40463T>A (n.265+40463T>A)
n.4849T>A
c.3197T>A
n.2534T>A
c.4119T>A
c.2087T>A
n.9403T>A
c.9387T>A (p.Ser3129=)
c.9309T>A (p.Ser3103=)
c.6693T>A (p.Ser2231=)
n.272-863A>T
c.9411T>A (p.Ser3137=)
c.9408T>A (p.Ser3136=)
c.9330T>A (p.Ser3110=)
c.9315T>A (p.Ser3105=)
c.2529T>A (p.Ser843=)
c.2508T>A (p.Ser836=)
n.2523-863A>T
n.9406T>A
5g.90716672T>CCA445413883ADGRV1c.9390T>C (p.Ser3130=)
c.265+40463T>C (n.265+40463T>C)
n.4849T>C
c.3197T>C
n.2534T>C
c.4119T>C
c.2087T>C
n.9403T>C
c.9387T>C (p.Ser3129=)
c.9309T>C (p.Ser3103=)
c.6693T>C (p.Ser2231=)
n.272-863A>G
c.9411T>C (p.Ser3137=)
c.9408T>C (p.Ser3136=)
c.9330T>C (p.Ser3110=)
c.9315T>C (p.Ser3105=)
c.2529T>C (p.Ser843=)
c.2508T>C (p.Ser836=)
n.2523-863A>G
n.9406T>C
5g.90716672T>GCA445413884ADGRV1c.9390T>G (p.Ser3130=)
c.265+40463T>G (n.265+40463T>G)
n.4849T>G
c.3197T>G
n.2534T>G
c.4119T>G
c.2087T>G
n.9403T>G
c.9387T>G (p.Ser3129=)
c.9309T>G (p.Ser3103=)
c.6693T>G (p.Ser2231=)
n.272-863A>C
c.9411T>G (p.Ser3137=)
c.9408T>G (p.Ser3136=)
c.9330T>G (p.Ser3110=)
c.9315T>G (p.Ser3105=)
c.2529T>G (p.Ser843=)
c.2508T>G (p.Ser836=)
n.2523-863A>C
n.9406T>G
 ClinVar dbSNP gnomAD v4
5g.90716672T=CA1562870625ADGRV1c.9390T= (p.Ser3130=)
c.265+40463T= (n.265+40463T=)
n.4849T=
c.3197T=
n.2534T=
c.4119T=
c.2087T=
n.9403T=
c.9387T= (p.Ser3129=)
c.9309T= (p.Ser3103=)
c.6693T= (p.Ser2231=)
n.272-863A=
c.9411T= (p.Ser3137=)
c.9408T= (p.Ser3136=)
c.9330T= (p.Ser3110=)
c.9315T= (p.Ser3105=)
c.2529T= (p.Ser843=)
c.2508T= (p.Ser836=)
n.2523-863A=
n.9406T=
5g.90716673A=CA1562870626ADGRV1c.9391A= (p.Lys3131=)
c.265+40464A= (n.265+40464A=)
n.4850A=
c.3198A=
n.2535A=
c.4120A=
c.2088A=
n.9404A=
c.9388A= (p.Lys3130=)
c.9310A= (p.Lys3104=)
c.6694A= (p.Lys2232=)
n.272-864T=
c.9412A= (p.Lys3138=)
c.9409A= (p.Lys3137=)
c.9331A= (p.Lys3111=)
c.9316A= (p.Lys3106=)
c.2530A= (p.Lys844=)
c.2509A= (p.Lys837=)
n.2523-864T=
n.9407A=
5g.90716673A>CCA360397634ADGRV1c.9391A>C (p.Lys3131Gln)
c.265+40464A>C (n.265+40464A>C)
n.4850A>C
c.3198A>C
n.2535A>C
c.4120A>C
c.2088A>C
n.9404A>C
c.9388A>C (p.Lys3130Gln)
c.9310A>C (p.Lys3104Gln)
c.6694A>C (p.Lys2232Gln)
n.272-864T>G
c.9412A>C (p.Lys3138Gln)
c.9409A>C (p.Lys3137Gln)
c.9331A>C (p.Lys3111Gln)
c.9316A>C (p.Lys3106Gln)
c.2530A>C (p.Lys844Gln)
c.2509A>C (p.Lys837Gln)
n.2523-864T>G
n.9407A>C
5g.90716673A>GCA122805713ADGRV1c.9391A>G (p.Lys3131Glu)
c.265+40464A>G (n.265+40464A>G)
n.4850A>G
c.3198A>G
n.2535A>G
c.4120A>G
c.2088A>G
n.9404A>G
c.9388A>G (p.Lys3130Glu)
c.9310A>G (p.Lys3104Glu)
c.6694A>G (p.Lys2232Glu)
n.272-864T>C
c.9412A>G (p.Lys3138Glu)
c.9409A>G (p.Lys3137Glu)
c.9331A>G (p.Lys3111Glu)
c.9316A>G (p.Lys3106Glu)
c.2530A>G (p.Lys844Glu)
c.2509A>G (p.Lys837Glu)
n.2523-864T>C
n.9407A>G
 dbSNP gnomAD v4
5g.90716673A>TCA360397636ADGRV1c.9391A>T (p.Lys3131Ter)
c.265+40464A>T (n.265+40464A>T)
n.4850A>T
c.3198A>T
n.2535A>T
c.4120A>T
c.2088A>T
n.9404A>T
c.9388A>T (p.Lys3130Ter)
c.9310A>T (p.Lys3104Ter)
c.6694A>T (p.Lys2232Ter)
n.272-864T>A
c.9412A>T (p.Lys3138Ter)
c.9409A>T (p.Lys3137Ter)
c.9331A>T (p.Lys3111Ter)
c.9316A>T (p.Lys3106Ter)
c.2530A>T (p.Lys844Ter)
c.2509A>T (p.Lys837Ter)
n.2523-864T>A
n.9407A>T
5g.90716675delCA2674547021ADGRV1c.9393del (p.Asp3132IlefsTer2)
c.265+40466del (n.265+40466del)
n.4852del
c.3200del
n.2537del
c.4122del
c.2090del
n.9406del
c.9390del (p.Asp3131IlefsTer2)
c.9312del (p.Asp3105IlefsTer2)
c.6696del (p.Asp2233IlefsTer2)
n.272-864del
c.9414del (p.Asp3139IlefsTer2)
c.9411del (p.Asp3138IlefsTer2)
c.9333del (p.Asp3112IlefsTer2)
c.9318del (p.Asp3107IlefsTer2)
c.2532del (p.Asp845IlefsTer2)
c.2511del (p.Asp838IlefsTer2)
n.2523-864del
n.9409del
 gnomAD v4
5g.90716674A>CCA360397638ADGRV1c.9392A>C (p.Lys3131Thr)
c.265+40465A>C (n.265+40465A>C)
n.4851A>C
c.3199A>C
n.2536A>C
c.4121A>C
c.2089A>C
n.9405A>C
c.9389A>C (p.Lys3130Thr)
c.9311A>C (p.Lys3104Thr)
c.6695A>C (p.Lys2232Thr)
n.272-865T>G
c.9413A>C (p.Lys3138Thr)
c.9410A>C (p.Lys3137Thr)
c.9332A>C (p.Lys3111Thr)
c.9317A>C (p.Lys3106Thr)
c.2531A>C (p.Lys844Thr)
c.2510A>C (p.Lys837Thr)
n.2523-865T>G
n.9408A>C
 gnomAD v4
5g.90716674A>GCA360397640ADGRV1c.9392A>G (p.Lys3131Arg)
c.265+40465A>G (n.265+40465A>G)
n.4851A>G
c.3199A>G
n.2536A>G
c.4121A>G
c.2089A>G
n.9405A>G
c.9389A>G (p.Lys3130Arg)
c.9311A>G (p.Lys3104Arg)
c.6695A>G (p.Lys2232Arg)
n.272-865T>C
c.9413A>G (p.Lys3138Arg)
c.9410A>G (p.Lys3137Arg)
c.9332A>G (p.Lys3111Arg)
c.9317A>G (p.Lys3106Arg)
c.2531A>G (p.Lys844Arg)
c.2510A>G (p.Lys837Arg)
n.2523-865T>C
n.9408A>G
5g.90716674A>TCA360397641ADGRV1c.9392A>T (p.Lys3131Ile)
c.265+40465A>T (n.265+40465A>T)
n.4851A>T
c.3199A>T
n.2536A>T
c.4121A>T
c.2089A>T
n.9405A>T
c.9389A>T (p.Lys3130Ile)
c.9311A>T (p.Lys3104Ile)
c.6695A>T (p.Lys2232Ile)
n.272-865T>A
c.9413A>T (p.Lys3138Ile)
c.9410A>T (p.Lys3137Ile)
c.9332A>T (p.Lys3111Ile)
c.9317A>T (p.Lys3106Ile)
c.2531A>T (p.Lys844Ile)
c.2510A>T (p.Lys837Ile)
n.2523-865T>A
n.9408A>T
5g.90716675A>CCA360397645ADGRV1c.9393A>C (p.Lys3131Asn)
c.265+40466A>C (n.265+40466A>C)
n.4852A>C
c.3200A>C
n.2537A>C
c.4122A>C
c.2090A>C
n.9406A>C
c.9390A>C (p.Lys3130Asn)
c.9312A>C (p.Lys3104Asn)
c.6696A>C (p.Lys2232Asn)
n.272-866T>G
c.9414A>C (p.Lys3138Asn)
c.9411A>C (p.Lys3137Asn)
c.9333A>C (p.Lys3111Asn)
c.9318A>C (p.Lys3106Asn)
c.2532A>C (p.Lys844Asn)
c.2511A>C (p.Lys837Asn)
n.2523-866T>G
n.9409A>C
5g.90716675A>GCA445413895ADGRV1c.9393A>G (p.Lys3131=)
c.265+40466A>G (n.265+40466A>G)
n.4852A>G
c.3200A>G
n.2537A>G
c.4122A>G
c.2090A>G
n.9406A>G
c.9390A>G (p.Lys3130=)
c.9312A>G (p.Lys3104=)
c.6696A>G (p.Lys2232=)
n.272-866T>C
c.9414A>G (p.Lys3138=)
c.9411A>G (p.Lys3137=)
c.9333A>G (p.Lys3111=)
c.9318A>G (p.Lys3106=)
c.2532A>G (p.Lys844=)
c.2511A>G (p.Lys837=)
n.2523-866T>C
n.9409A>G
5g.90716675A>TCA360397643ADGRV1c.9393A>T (p.Lys3131Asn)
c.265+40466A>T (n.265+40466A>T)
n.4852A>T
c.3200A>T
n.2537A>T
c.4122A>T
c.2090A>T
n.9406A>T
c.9390A>T (p.Lys3130Asn)
c.9312A>T (p.Lys3104Asn)
c.6696A>T (p.Lys2232Asn)
n.272-866T>A
c.9414A>T (p.Lys3138Asn)
c.9411A>T (p.Lys3137Asn)
c.9333A>T (p.Lys3111Asn)
c.9318A>T (p.Lys3106Asn)
c.2532A>T (p.Lys844Asn)
c.2511A>T (p.Lys837Asn)
n.2523-866T>A
n.9409A>T
5g.90716676G>ACA360397647ADGRV1c.9394G>A (p.Asp3132Asn)
c.265+40467G>A (n.265+40467G>A)
n.4853G>A
c.3201G>A
n.2538G>A
c.4123G>A
c.2091G>A
n.9407G>A
c.9391G>A (p.Asp3131Asn)
c.9313G>A (p.Asp3105Asn)
c.6697G>A (p.Asp2233Asn)
n.272-867C>T
c.9415G>A (p.Asp3139Asn)
c.9412G>A (p.Asp3138Asn)
c.9334G>A (p.Asp3112Asn)
c.9319G>A (p.Asp3107Asn)
c.2533G>A (p.Asp845Asn)
c.2512G>A (p.Asp838Asn)
n.2523-867C>T
n.9410G>A
5g.90716676G>CCA360397649ADGRV1c.9394G>C (p.Asp3132His)
c.265+40467G>C (n.265+40467G>C)
n.4853G>C
c.3201G>C
n.2538G>C
c.4123G>C
c.2091G>C
n.9407G>C
c.9391G>C (p.Asp3131His)
c.9313G>C (p.Asp3105His)
c.6697G>C (p.Asp2233His)
n.272-867C>G
c.9415G>C (p.Asp3139His)
c.9412G>C (p.Asp3138His)
c.9334G>C (p.Asp3112His)
c.9319G>C (p.Asp3107His)
c.2533G>C (p.Asp845His)
c.2512G>C (p.Asp838His)
n.2523-867C>G
n.9410G>C
5g.90716676G=CA1562870627ADGRV1c.9394G= (p.Asp3132=)
c.265+40467G= (n.265+40467G=)
n.4853G=
c.3201G=
n.2538G=
c.4123G=
c.2091G=
n.9407G=
c.9391G= (p.Asp3131=)
c.9313G= (p.Asp3105=)
c.6697G= (p.Asp2233=)
n.272-867C=
c.9415G= (p.Asp3139=)
c.9412G= (p.Asp3138=)
c.9334G= (p.Asp3112=)
c.9319G= (p.Asp3107=)
c.2533G= (p.Asp845=)
c.2512G= (p.Asp838=)
n.2523-867C=
n.9410G=
5g.90716676G>TCA3340486ADGRV1c.9394G>T (p.Asp3132Tyr)
c.265+40467G>T (n.265+40467G>T)
n.4853G>T
c.3201G>T
n.2538G>T
c.4123G>T
c.2091G>T
n.9407G>T
c.9391G>T (p.Asp3131Tyr)
c.9313G>T (p.Asp3105Tyr)
c.6697G>T (p.Asp2233Tyr)
n.272-867C>A
c.9415G>T (p.Asp3139Tyr)
c.9412G>T (p.Asp3138Tyr)
c.9334G>T (p.Asp3112Tyr)
c.9319G>T (p.Asp3107Tyr)
c.2533G>T (p.Asp845Tyr)
c.2512G>T (p.Asp838Tyr)
n.2523-867C>A
n.9410G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90716677A=CA1562870628ADGRV1c.9395A= (p.Asp3132=)
c.265+40468A= (n.265+40468A=)
n.4854A=
c.3202A=
n.2539A=
c.4124A=
c.2092A=
n.9408A=
c.9392A= (p.Asp3131=)
c.9314A= (p.Asp3105=)
c.6698A= (p.Asp2233=)
n.272-868T=
c.9416A= (p.Asp3139=)
c.9413A= (p.Asp3138=)
c.9335A= (p.Asp3112=)
c.9320A= (p.Asp3107=)
c.2534A= (p.Asp845=)
c.2513A= (p.Asp838=)
n.2523-868T=
n.9411A=
5g.90716677A>CCA360397651ADGRV1c.9395A>C (p.Asp3132Ala)
c.265+40468A>C (n.265+40468A>C)
n.4854A>C
c.3202A>C
n.2539A>C
c.4124A>C
c.2092A>C
n.9408A>C
c.9392A>C (p.Asp3131Ala)
c.9314A>C (p.Asp3105Ala)
c.6698A>C (p.Asp2233Ala)
n.272-868T>G
c.9416A>C (p.Asp3139Ala)
c.9413A>C (p.Asp3138Ala)
c.9335A>C (p.Asp3112Ala)
c.9320A>C (p.Asp3107Ala)
c.2534A>C (p.Asp845Ala)
c.2513A>C (p.Asp838Ala)
n.2523-868T>G
n.9411A>C
5g.90716677A>GCA360397653ADGRV1c.9395A>G (p.Asp3132Gly)
c.265+40468A>G (n.265+40468A>G)
n.4854A>G
c.3202A>G
n.2539A>G
c.4124A>G
c.2092A>G
n.9408A>G
c.9392A>G (p.Asp3131Gly)
c.9314A>G (p.Asp3105Gly)
c.6698A>G (p.Asp2233Gly)
n.272-868T>C
c.9416A>G (p.Asp3139Gly)
c.9413A>G (p.Asp3138Gly)
c.9335A>G (p.Asp3112Gly)
c.9320A>G (p.Asp3107Gly)
c.2534A>G (p.Asp845Gly)
c.2513A>G (p.Asp838Gly)
n.2523-868T>C
n.9411A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90716677A>TCA360397654ADGRV1c.9395A>T (p.Asp3132Val)
c.265+40468A>T (n.265+40468A>T)
n.4854A>T
c.3202A>T
n.2539A>T
c.4124A>T
c.2092A>T
n.9408A>T
c.9392A>T (p.Asp3131Val)
c.9314A>T (p.Asp3105Val)
c.6698A>T (p.Asp2233Val)
n.272-868T>A
c.9416A>T (p.Asp3139Val)
c.9413A>T (p.Asp3138Val)
c.9335A>T (p.Asp3112Val)
c.9320A>T (p.Asp3107Val)
c.2534A>T (p.Asp845Val)
c.2513A>T (p.Asp838Val)
n.2523-868T>A
n.9411A>T
5g.90716678T>ACA360397656ADGRV1c.9396T>A (p.Asp3132Glu)
c.265+40469T>A (n.265+40469T>A)
n.4855T>A
c.3203T>A
n.2540T>A
c.4125T>A
c.2093T>A
n.9409T>A
c.9393T>A (p.Asp3131Glu)
c.9315T>A (p.Asp3105Glu)
c.6699T>A (p.Asp2233Glu)
n.272-869A>T
c.9417T>A (p.Asp3139Glu)
c.9414T>A (p.Asp3138Glu)
c.9336T>A (p.Asp3112Glu)
c.9321T>A (p.Asp3107Glu)
c.2535T>A (p.Asp845Glu)
c.2514T>A (p.Asp838Glu)
n.2523-869A>T
n.9412T>A
5g.90716678T>CCA445413907ADGRV1c.9396T>C (p.Asp3132=)
c.265+40469T>C (n.265+40469T>C)
n.4855T>C
c.3203T>C
n.2540T>C
c.4125T>C
c.2093T>C
n.9409T>C
c.9393T>C (p.Asp3131=)
c.9315T>C (p.Asp3105=)
c.6699T>C (p.Asp2233=)
n.272-869A>G
c.9417T>C (p.Asp3139=)
c.9414T>C (p.Asp3138=)
c.9336T>C (p.Asp3112=)
c.9321T>C (p.Asp3107=)
c.2535T>C (p.Asp845=)
c.2514T>C (p.Asp838=)
n.2523-869A>G
n.9412T>C
5g.90716678T>GCA360397658ADGRV1c.9396T>G (p.Asp3132Glu)
c.265+40469T>G (n.265+40469T>G)
n.4855T>G
c.3203T>G
n.2540T>G
c.4125T>G
c.2093T>G
n.9409T>G
c.9393T>G (p.Asp3131Glu)
c.9315T>G (p.Asp3105Glu)
c.6699T>G (p.Asp2233Glu)
n.272-869A>C
c.9417T>G (p.Asp3139Glu)
c.9414T>G (p.Asp3138Glu)
c.9336T>G (p.Asp3112Glu)
c.9321T>G (p.Asp3107Glu)
c.2535T>G (p.Asp845Glu)
c.2514T>G (p.Asp838Glu)
n.2523-869A>C
n.9412T>G
5g.90716679C>ACA360397659ADGRV1c.9397C>A (p.Leu3133Met)
c.265+40470C>A (n.265+40470C>A)
n.4856C>A
c.3204C>A
n.2541C>A
c.4126C>A
c.2094C>A
n.9410C>A
c.9394C>A (p.Leu3132Met)
c.9316C>A (p.Leu3106Met)
c.6700C>A (p.Leu2234Met)
n.272-870G>T
c.9418C>A (p.Leu3140Met)
c.9415C>A (p.Leu3139Met)
c.9337C>A (p.Leu3113Met)
c.9322C>A (p.Leu3108Met)
c.2536C>A (p.Leu846Met)
c.2515C>A (p.Leu839Met)
n.2523-870G>T
n.9413C>A
5g.90716679C>GCA360397661ADGRV1c.9397C>G (p.Leu3133Val)
c.265+40470C>G (n.265+40470C>G)
n.4856C>G
c.3204C>G
n.2541C>G
c.4126C>G
c.2094C>G
n.9410C>G
c.9394C>G (p.Leu3132Val)
c.9316C>G (p.Leu3106Val)
c.6700C>G (p.Leu2234Val)
n.272-870G>C
c.9418C>G (p.Leu3140Val)
c.9415C>G (p.Leu3139Val)
c.9337C>G (p.Leu3113Val)
c.9322C>G (p.Leu3108Val)
c.2536C>G (p.Leu846Val)
c.2515C>G (p.Leu839Val)
n.2523-870G>C
n.9413C>G
5g.90716679C>TCA445413912ADGRV1c.9397C>T (p.Leu3133=)
c.265+40470C>T (n.265+40470C>T)
n.4856C>T
c.3204C>T
n.2541C>T
c.4126C>T
c.2094C>T
n.9410C>T
c.9394C>T (p.Leu3132=)
c.9316C>T (p.Leu3106=)
c.6700C>T (p.Leu2234=)
n.272-870G>A
c.9418C>T (p.Leu3140=)
c.9415C>T (p.Leu3139=)
c.9337C>T (p.Leu3113=)
c.9322C>T (p.Leu3108=)
c.2536C>T (p.Leu846=)
c.2515C>T (p.Leu839=)
n.2523-870G>A
n.9413C>T
5g.90716680T>ACA360397662ADGRV1c.9398T>A (p.Leu3133Gln)
c.265+40471T>A (n.265+40471T>A)
n.4857T>A
c.3205T>A
n.2542T>A
c.4127T>A
c.2095T>A
n.9411T>A
c.9395T>A (p.Leu3132Gln)
c.9317T>A (p.Leu3106Gln)
c.6701T>A (p.Leu2234Gln)
n.272-871A>T
c.9419T>A (p.Leu3140Gln)
c.9416T>A (p.Leu3139Gln)
c.9338T>A (p.Leu3113Gln)
c.9323T>A (p.Leu3108Gln)
c.2537T>A (p.Leu846Gln)
c.2516T>A (p.Leu839Gln)
n.2523-871A>T
n.9414T>A
5g.90716680T>CCA360397663ADGRV1c.9398T>C (p.Leu3133Pro)
c.265+40471T>C (n.265+40471T>C)
n.4857T>C
c.3205T>C
n.2542T>C
c.4127T>C
c.2095T>C
n.9411T>C
c.9395T>C (p.Leu3132Pro)
c.9317T>C (p.Leu3106Pro)
c.6701T>C (p.Leu2234Pro)
n.272-871A>G
c.9419T>C (p.Leu3140Pro)
c.9416T>C (p.Leu3139Pro)
c.9338T>C (p.Leu3113Pro)
c.9323T>C (p.Leu3108Pro)
c.2537T>C (p.Leu846Pro)
c.2516T>C (p.Leu839Pro)
n.2523-871A>G
n.9414T>C
5g.90716680T>GCA360397664ADGRV1c.9398T>G (p.Leu3133Arg)
c.265+40471T>G (n.265+40471T>G)
n.4857T>G
c.3205T>G
n.2542T>G
c.4127T>G
c.2095T>G
n.9411T>G
c.9395T>G (p.Leu3132Arg)
c.9317T>G (p.Leu3106Arg)
c.6701T>G (p.Leu2234Arg)
n.272-871A>C
c.9419T>G (p.Leu3140Arg)
c.9416T>G (p.Leu3139Arg)
c.9338T>G (p.Leu3113Arg)
c.9323T>G (p.Leu3108Arg)
c.2537T>G (p.Leu846Arg)
c.2516T>G (p.Leu839Arg)
n.2523-871A>C
n.9414T>G
5g.90716681G>ACA445413918ADGRV1c.9399G>A (p.Leu3133=)
c.265+40472G>A (n.265+40472G>A)
n.4858G>A
c.3206G>A
n.2543G>A
c.4128G>A
c.2096G>A
n.9412G>A
c.9396G>A (p.Leu3132=)
c.9318G>A (p.Leu3106=)
c.6702G>A (p.Leu2234=)
n.272-872C>T
c.9420G>A (p.Leu3140=)
c.9417G>A (p.Leu3139=)
c.9339G>A (p.Leu3113=)
c.9324G>A (p.Leu3108=)
c.2538G>A (p.Leu846=)
c.2517G>A (p.Leu839=)
n.2523-872C>T
n.9415G>A
5g.90716681G>CCA445413920ADGRV1c.9399G>C (p.Leu3133=)
c.265+40472G>C (n.265+40472G>C)
n.4858G>C
c.3206G>C
n.2543G>C
c.4128G>C
c.2096G>C
n.9412G>C
c.9396G>C (p.Leu3132=)
c.9318G>C (p.Leu3106=)
c.6702G>C (p.Leu2234=)
n.272-872C>G
c.9420G>C (p.Leu3140=)
c.9417G>C (p.Leu3139=)
c.9339G>C (p.Leu3113=)
c.9324G>C (p.Leu3108=)
c.2538G>C (p.Leu846=)
c.2517G>C (p.Leu839=)
n.2523-872C>G
n.9415G>C
5g.90716681G>TCA445413921ADGRV1c.9399G>T (p.Leu3133=)
c.265+40472G>T (n.265+40472G>T)
n.4858G>T
c.3206G>T
n.2543G>T
c.4128G>T
c.2096G>T
n.9412G>T
c.9396G>T (p.Leu3132=)
c.9318G>T (p.Leu3106=)
c.6702G>T (p.Leu2234=)
n.272-872C>A
c.9420G>T (p.Leu3140=)
c.9417G>T (p.Leu3139=)
c.9339G>T (p.Leu3113=)
c.9324G>T (p.Leu3108=)
c.2538G>T (p.Leu846=)
c.2517G>T (p.Leu839=)
n.2523-872C>A
n.9415G>T
5g.90716682A>CCA360397666ADGRV1c.9400A>C (p.Thr3134Pro)
c.265+40473A>C (n.265+40473A>C)
n.4859A>C
c.3207A>C
n.2544A>C
c.4129A>C
c.2097A>C
n.9413A>C
c.9397A>C (p.Thr3133Pro)
c.9319A>C (p.Thr3107Pro)
c.6703A>C (p.Thr2235Pro)
n.272-873T>G
c.9421A>C (p.Thr3141Pro)
c.9418A>C (p.Thr3140Pro)
c.9340A>C (p.Thr3114Pro)
c.9325A>C (p.Thr3109Pro)
c.2539A>C (p.Thr847Pro)
c.2518A>C (p.Thr840Pro)
n.2523-873T>G
n.9416A>C
5g.90716682A>GCA360397668ADGRV1c.9400A>G (p.Thr3134Ala)
c.265+40473A>G (n.265+40473A>G)
n.4859A>G
c.3207A>G
n.2544A>G
c.4129A>G
c.2097A>G
n.9413A>G
c.9397A>G (p.Thr3133Ala)
c.9319A>G (p.Thr3107Ala)
c.6703A>G (p.Thr2235Ala)
n.272-873T>C
c.9421A>G (p.Thr3141Ala)
c.9418A>G (p.Thr3140Ala)
c.9340A>G (p.Thr3114Ala)
c.9325A>G (p.Thr3109Ala)
c.2539A>G (p.Thr847Ala)
c.2518A>G (p.Thr840Ala)
n.2523-873T>C
n.9416A>G
5g.90716682A>TCA360397670ADGRV1c.9400A>T (p.Thr3134Ser)
c.265+40473A>T (n.265+40473A>T)
n.4859A>T
c.3207A>T
n.2544A>T
c.4129A>T
c.2097A>T
n.9413A>T
c.9397A>T (p.Thr3133Ser)
c.9319A>T (p.Thr3107Ser)
c.6703A>T (p.Thr2235Ser)
n.272-873T>A
c.9421A>T (p.Thr3141Ser)
c.9418A>T (p.Thr3140Ser)
c.9340A>T (p.Thr3114Ser)
c.9325A>T (p.Thr3109Ser)
c.2539A>T (p.Thr847Ser)
c.2518A>T (p.Thr840Ser)
n.2523-873T>A
n.9416A>T
5g.90716683C>ACA360397673ADGRV1c.9401C>A (p.Thr3134Asn)
c.265+40474C>A (n.265+40474C>A)
n.4860C>A
c.3208C>A
n.2545C>A
c.4130C>A
c.2098C>A
n.9414C>A
c.9398C>A (p.Thr3133Asn)
c.9320C>A (p.Thr3107Asn)
c.6704C>A (p.Thr2235Asn)
n.272-874G>T
c.9422C>A (p.Thr3141Asn)
c.9419C>A (p.Thr3140Asn)
c.9341C>A (p.Thr3114Asn)
c.9326C>A (p.Thr3109Asn)
c.2540C>A (p.Thr847Asn)
c.2519C>A (p.Thr840Asn)
n.2523-874G>T
n.9417C>A
5g.90716683C>GCA360397672ADGRV1c.9401C>G (p.Thr3134Ser)
c.265+40474C>G (n.265+40474C>G)
n.4860C>G
c.3208C>G
n.2545C>G
c.4130C>G
c.2098C>G
n.9414C>G
c.9398C>G (p.Thr3133Ser)
c.9320C>G (p.Thr3107Ser)
c.6704C>G (p.Thr2235Ser)
n.272-874G>C
c.9422C>G (p.Thr3141Ser)
c.9419C>G (p.Thr3140Ser)
c.9341C>G (p.Thr3114Ser)
c.9326C>G (p.Thr3109Ser)
c.2540C>G (p.Thr847Ser)
c.2519C>G (p.Thr840Ser)
n.2523-874G>C
n.9417C>G
5g.90716683C>TCA360397671ADGRV1c.9401C>T (p.Thr3134Ile)
c.265+40474C>T (n.265+40474C>T)
n.4860C>T
c.3208C>T
n.2545C>T
c.4130C>T
c.2098C>T
n.9414C>T
c.9398C>T (p.Thr3133Ile)
c.9320C>T (p.Thr3107Ile)
c.6704C>T (p.Thr2235Ile)
n.272-874G>A
c.9422C>T (p.Thr3141Ile)
c.9419C>T (p.Thr3140Ile)
c.9341C>T (p.Thr3114Ile)
c.9326C>T (p.Thr3109Ile)
c.2540C>T (p.Thr847Ile)
c.2519C>T (p.Thr840Ile)
n.2523-874G>A
n.9417C>T
5g.90716684T>ACA445413927ADGRV1c.9402T>A (p.Thr3134=)
c.265+40475T>A (n.265+40475T>A)
n.4861T>A
c.3209T>A
n.2546T>A
c.4131T>A
c.2099T>A
n.9415T>A
c.9399T>A (p.Thr3133=)
c.9321T>A (p.Thr3107=)
c.6705T>A (p.Thr2235=)
n.272-875A>T
c.9423T>A (p.Thr3141=)
c.9420T>A (p.Thr3140=)
c.9342T>A (p.Thr3114=)
c.9327T>A (p.Thr3109=)
c.2541T>A (p.Thr847=)
c.2520T>A (p.Thr840=)
n.2523-875A>T
n.9418T>A
 gnomAD v4
5g.90716684T>CCA445413928ADGRV1c.9402T>C (p.Thr3134=)
c.265+40475T>C (n.265+40475T>C)
n.4861T>C
c.3209T>C
n.2546T>C
c.4131T>C
c.2099T>C
n.9415T>C
c.9399T>C (p.Thr3133=)
c.9321T>C (p.Thr3107=)
c.6705T>C (p.Thr2235=)
n.272-875A>G
c.9423T>C (p.Thr3141=)
c.9420T>C (p.Thr3140=)
c.9342T>C (p.Thr3114=)
c.9327T>C (p.Thr3109=)
c.2541T>C (p.Thr847=)
c.2520T>C (p.Thr840=)
n.2523-875A>G
n.9418T>C
5g.90716684T>GCA445413929ADGRV1c.9402T>G (p.Thr3134=)
c.265+40475T>G (n.265+40475T>G)
n.4861T>G
c.3209T>G
n.2546T>G
c.4131T>G
c.2099T>G
n.9415T>G
c.9399T>G (p.Thr3133=)
c.9321T>G (p.Thr3107=)
c.6705T>G (p.Thr2235=)
n.272-875A>C
c.9423T>G (p.Thr3141=)
c.9420T>G (p.Thr3140=)
c.9342T>G (p.Thr3114=)
c.9327T>G (p.Thr3109=)
c.2541T>G (p.Thr847=)
c.2520T>G (p.Thr840=)
n.2523-875A>C
n.9418T>G
5g.90716685C>ACA360397675ADGRV1c.9403C>A (p.Pro3135Thr)
c.265+40476C>A (n.265+40476C>A)
n.4862C>A
c.3210C>A
n.2547C>A
c.4132C>A
c.2100C>A
n.9416C>A
c.9400C>A (p.Pro3134Thr)
c.9322C>A (p.Pro3108Thr)
c.6706C>A (p.Pro2236Thr)
n.272-876G>T
c.9424C>A (p.Pro3142Thr)
c.9421C>A (p.Pro3141Thr)
c.9343C>A (p.Pro3115Thr)
c.9328C>A (p.Pro3110Thr)
c.2542C>A (p.Pro848Thr)
c.2521C>A (p.Pro841Thr)
n.2523-876G>T
n.9419C>A
5g.90716685C>GCA360397677ADGRV1c.9403C>G (p.Pro3135Ala)
c.265+40476C>G (n.265+40476C>G)
n.4862C>G
c.3210C>G
n.2547C>G
c.4132C>G
c.2100C>G
n.9416C>G
c.9400C>G (p.Pro3134Ala)
c.9322C>G (p.Pro3108Ala)
c.6706C>G (p.Pro2236Ala)
n.272-876G>C
c.9424C>G (p.Pro3142Ala)
c.9421C>G (p.Pro3141Ala)
c.9343C>G (p.Pro3115Ala)
c.9328C>G (p.Pro3110Ala)
c.2542C>G (p.Pro848Ala)
c.2521C>G (p.Pro841Ala)
n.2523-876G>C
n.9419C>G
5g.90716685C>TCA360397678ADGRV1c.9403C>T (p.Pro3135Ser)
c.265+40476C>T (n.265+40476C>T)
n.4862C>T
c.3210C>T
n.2547C>T
c.4132C>T
c.2100C>T
n.9416C>T
c.9400C>T (p.Pro3134Ser)
c.9322C>T (p.Pro3108Ser)
c.6706C>T (p.Pro2236Ser)
n.272-876G>A
c.9424C>T (p.Pro3142Ser)
c.9421C>T (p.Pro3141Ser)
c.9343C>T (p.Pro3115Ser)
c.9328C>T (p.Pro3110Ser)
c.2542C>T (p.Pro848Ser)
c.2521C>T (p.Pro841Ser)
n.2523-876G>A
n.9419C>T
 COSMIC
5g.90716686C>ACA360397679ADGRV1c.9404C>A (p.Pro3135His)
c.265+40477C>A (n.265+40477C>A)
n.4863C>A
c.3211C>A
n.2548C>A
c.4133C>A
c.2101C>A
n.9417C>A
c.9401C>A (p.Pro3134His)
c.9323C>A (p.Pro3108His)
c.6707C>A (p.Pro2236His)
n.272-877G>T
c.9425C>A (p.Pro3142His)
c.9422C>A (p.Pro3141His)
c.9344C>A (p.Pro3115His)
c.9329C>A (p.Pro3110His)
c.2543C>A (p.Pro848His)
c.2522C>A (p.Pro841His)
n.2523-877G>T
n.9420C>A
5g.90716686C>GCA360397681ADGRV1c.9404C>G (p.Pro3135Arg)
c.265+40477C>G (n.265+40477C>G)
n.4863C>G
c.3211C>G
n.2548C>G
c.4133C>G
c.2101C>G
n.9417C>G
c.9401C>G (p.Pro3134Arg)
c.9323C>G (p.Pro3108Arg)
c.6707C>G (p.Pro2236Arg)
n.272-877G>C
c.9425C>G (p.Pro3142Arg)
c.9422C>G (p.Pro3141Arg)
c.9344C>G (p.Pro3115Arg)
c.9329C>G (p.Pro3110Arg)
c.2543C>G (p.Pro848Arg)
c.2522C>G (p.Pro841Arg)
n.2523-877G>C
n.9420C>G
5g.90716686C>TCA360397682ADGRV1c.9404C>T (p.Pro3135Leu)
c.265+40477C>T (n.265+40477C>T)
n.4863C>T
c.3211C>T
n.2548C>T
c.4133C>T
c.2101C>T
n.9417C>T
c.9401C>T (p.Pro3134Leu)
c.9323C>T (p.Pro3108Leu)
c.6707C>T (p.Pro2236Leu)
n.272-877G>A
c.9425C>T (p.Pro3142Leu)
c.9422C>T (p.Pro3141Leu)
c.9344C>T (p.Pro3115Leu)
c.9329C>T (p.Pro3110Leu)
c.2543C>T (p.Pro848Leu)
c.2522C>T (p.Pro841Leu)
n.2523-877G>A
n.9420C>T
5g.90716688_90716689insTAGAGTCTTCTTCA2569726758ADGRV1c.9406_9407insTAGAGTCTTCTT (p.Pro3135_Ser3136insLeuGluSerSer)
c.265+40479_265+40480insTAGAGTCTTCTT (n.265+40479_265+40480insTAGAGTCTTCTT)
n.4865_4866insTAGAGTCTTCTT
c.3213_3214insTAGAGTCTTCTT
n.2550_2551insTAGAGTCTTCTT
c.4135_4136insTAGAGTCTTCTT
c.2103_2104insTAGAGTCTTCTT
n.9419_9420insTAGAGTCTTCTT
c.9403_9404insTAGAGTCTTCTT (p.Pro3134_Ser3135insLeuGluSerSer)
c.9325_9326insTAGAGTCTTCTT (p.Pro3108_Ser3109insLeuGluSerSer)
c.6709_6710insTAGAGTCTTCTT (p.Pro2236_Ser2237insLeuGluSerSer)
n.272-877_272-876insAAGACTCTAAAG
c.9427_9428insTAGAGTCTTCTT (p.Pro3142_Ser3143insLeuGluSerSer)
c.9424_9425insTAGAGTCTTCTT (p.Pro3141_Ser3142insLeuGluSerSer)
c.9346_9347insTAGAGTCTTCTT (p.Pro3115_Ser3116insLeuGluSerSer)
c.9331_9332insTAGAGTCTTCTT (p.Pro3110_Ser3111insLeuGluSerSer)
c.2545_2546insTAGAGTCTTCTT (p.Pro848_Ser849insLeuGluSerSer)
c.2524_2525insTAGAGTCTTCTT (p.Pro841_Ser842insLeuGluSerSer)
n.2523-877_2523-876insAAGACTCTAAAG
n.9422_9423insTAGAGTCTTCTT
 gnomAD v4
5g.90716687T>ACA445413934ADGRV1c.9405T>A (p.Pro3135=)
c.265+40478T>A (n.265+40478T>A)
n.4864T>A
c.3212T>A
n.2549T>A
c.4134T>A
c.2102T>A
n.9418T>A
c.9402T>A (p.Pro3134=)
c.9324T>A (p.Pro3108=)
c.6708T>A (p.Pro2236=)
n.272-878A>T
c.9426T>A (p.Pro3142=)
c.9423T>A (p.Pro3141=)
c.9345T>A (p.Pro3115=)
c.9330T>A (p.Pro3110=)
c.2544T>A (p.Pro848=)
c.2523T>A (p.Pro841=)
n.2523-878A>T
n.9421T>A
5g.90716687T>CCA445413937ADGRV1c.9405T>C (p.Pro3135=)
c.265+40478T>C (n.265+40478T>C)
n.4864T>C
c.3212T>C
n.2549T>C
c.4134T>C
c.2102T>C
n.9418T>C
c.9402T>C (p.Pro3134=)
c.9324T>C (p.Pro3108=)
c.6708T>C (p.Pro2236=)
n.272-878A>G
c.9426T>C (p.Pro3142=)
c.9423T>C (p.Pro3141=)
c.9345T>C (p.Pro3115=)
c.9330T>C (p.Pro3110=)
c.2544T>C (p.Pro848=)
c.2523T>C (p.Pro841=)
n.2523-878A>G
n.9421T>C
5g.90716687T>GCA445413939ADGRV1c.9405T>G (p.Pro3135=)
c.265+40478T>G (n.265+40478T>G)
n.4864T>G
c.3212T>G
n.2549T>G
c.4134T>G
c.2102T>G
n.9418T>G
c.9402T>G (p.Pro3134=)
c.9324T>G (p.Pro3108=)
c.6708T>G (p.Pro2236=)
n.272-878A>C
c.9426T>G (p.Pro3142=)
c.9423T>G (p.Pro3141=)
c.9345T>G (p.Pro3115=)
c.9330T>G (p.Pro3110=)
c.2544T>G (p.Pro848=)
c.2523T>G (p.Pro841=)
n.2523-878A>C
n.9421T>G
5g.90716688T>ACA360397684ADGRV1c.9406T>A (p.Ser3136Thr)
c.265+40479T>A (n.265+40479T>A)
n.4865T>A
c.3213T>A
n.2550T>A
c.4135T>A
c.2103T>A
n.9419T>A
c.9403T>A (p.Ser3135Thr)
c.9325T>A (p.Ser3109Thr)
c.6709T>A (p.Ser2237Thr)
n.272-879A>T
c.9427T>A (p.Ser3143Thr)
c.9424T>A (p.Ser3142Thr)
c.9346T>A (p.Ser3116Thr)
c.9331T>A (p.Ser3111Thr)
c.2545T>A (p.Ser849Thr)
c.2524T>A (p.Ser842Thr)
n.2523-879A>T
n.9422T>A
5g.90716688T>CCA360397686ADGRV1c.9406T>C (p.Ser3136Pro)
c.265+40479T>C (n.265+40479T>C)
n.4865T>C
c.3213T>C
n.2550T>C
c.4135T>C
c.2103T>C
n.9419T>C
c.9403T>C (p.Ser3135Pro)
c.9325T>C (p.Ser3109Pro)
c.6709T>C (p.Ser2237Pro)
n.272-879A>G
c.9427T>C (p.Ser3143Pro)
c.9424T>C (p.Ser3142Pro)
c.9346T>C (p.Ser3116Pro)
c.9331T>C (p.Ser3111Pro)
c.2545T>C (p.Ser849Pro)
c.2524T>C (p.Ser842Pro)
n.2523-879A>G
n.9422T>C
5g.90716688T>GCA360397687ADGRV1c.9406T>G (p.Ser3136Ala)
c.265+40479T>G (n.265+40479T>G)
n.4865T>G
c.3213T>G
n.2550T>G
c.4135T>G
c.2103T>G
n.9419T>G
c.9403T>G (p.Ser3135Ala)
c.9325T>G (p.Ser3109Ala)
c.6709T>G (p.Ser2237Ala)
n.272-879A>C
c.9427T>G (p.Ser3143Ala)
c.9424T>G (p.Ser3142Ala)
c.9346T>G (p.Ser3116Ala)
c.9331T>G (p.Ser3111Ala)
c.2545T>G (p.Ser849Ala)
c.2524T>G (p.Ser842Ala)
n.2523-879A>C
n.9422T>G
5g.90716689C>ACA360397689ADGRV1c.9407C>A (p.Ser3136Tyr)
c.265+40480C>A (n.265+40480C>A)
n.4866C>A
c.3214C>A
n.2551C>A
c.4136C>A
c.2104C>A
n.9420C>A
c.9404C>A (p.Ser3135Tyr)
c.9326C>A (p.Ser3109Tyr)
c.6710C>A (p.Ser2237Tyr)
n.272-880G>T
c.9428C>A (p.Ser3143Tyr)
c.9425C>A (p.Ser3142Tyr)
c.9347C>A (p.Ser3116Tyr)
c.9332C>A (p.Ser3111Tyr)
c.2546C>A (p.Ser849Tyr)
c.2525C>A (p.Ser842Tyr)
n.2523-880G>T
n.9423C>A
5g.90716689C=CA1562870629ADGRV1c.9407C= (p.Ser3136=)
c.265+40480C= (n.265+40480C=)
n.4866C=
c.3214C=
n.2551C=
c.4136C=
c.2104C=
n.9420C=
c.9404C= (p.Ser3135=)
c.9326C= (p.Ser3109=)
c.6710C= (p.Ser2237=)
n.272-880G=
c.9428C= (p.Ser3143=)
c.9425C= (p.Ser3142=)
c.9347C= (p.Ser3116=)
c.9332C= (p.Ser3111=)
c.2546C= (p.Ser849=)
c.2525C= (p.Ser842=)
n.2523-880G=
n.9423C=
5g.90716689C>GCA360397691ADGRV1c.9407C>G (p.Ser3136Cys)
c.265+40480C>G (n.265+40480C>G)
n.4866C>G
c.3214C>G
n.2551C>G
c.4136C>G
c.2104C>G
n.9420C>G
c.9404C>G (p.Ser3135Cys)
c.9326C>G (p.Ser3109Cys)
c.6710C>G (p.Ser2237Cys)
n.272-880G>C
c.9428C>G (p.Ser3143Cys)
c.9425C>G (p.Ser3142Cys)
c.9347C>G (p.Ser3116Cys)
c.9332C>G (p.Ser3111Cys)
c.2546C>G (p.Ser849Cys)
c.2525C>G (p.Ser842Cys)
n.2523-880G>C
n.9423C>G
 dbSNP
5g.90716689C>TCA360397693ADGRV1c.9407C>T (p.Ser3136Phe)
c.265+40480C>T (n.265+40480C>T)
n.4866C>T
c.3214C>T
n.2551C>T
c.4136C>T
c.2104C>T
n.9420C>T
c.9404C>T (p.Ser3135Phe)
c.9326C>T (p.Ser3109Phe)
c.6710C>T (p.Ser2237Phe)
n.272-880G>A
c.9428C>T (p.Ser3143Phe)
c.9425C>T (p.Ser3142Phe)
c.9347C>T (p.Ser3116Phe)
c.9332C>T (p.Ser3111Phe)
c.2546C>T (p.Ser849Phe)
c.2525C>T (p.Ser842Phe)
n.2523-880G>A
n.9423C>T
 ClinVar
5g.90716690C>ACA445413948ADGRV1c.9408C>A (p.Ser3136=)
c.265+40481C>A (n.265+40481C>A)
n.4867C>A
c.3215C>A
n.2552C>A
c.4137C>A
c.2105C>A
n.9421C>A
c.9405C>A (p.Ser3135=)
c.9327C>A (p.Ser3109=)
c.6711C>A (p.Ser2237=)
n.272-881G>T
c.9429C>A (p.Ser3143=)
c.9426C>A (p.Ser3142=)
c.9348C>A (p.Ser3116=)
c.9333C>A (p.Ser3111=)
c.2547C>A (p.Ser849=)
c.2526C>A (p.Ser842=)
n.2523-881G>T
n.9424C>A
5g.90716690C=CA1562870630ADGRV1c.9408C= (p.Ser3136=)
c.265+40481C= (n.265+40481C=)
n.4867C=
c.3215C=
n.2552C=
c.4137C=
c.2105C=
n.9421C=
c.9405C= (p.Ser3135=)
c.9327C= (p.Ser3109=)
c.6711C= (p.Ser2237=)
n.272-881G=
c.9429C= (p.Ser3143=)
c.9426C= (p.Ser3142=)
c.9348C= (p.Ser3116=)
c.9333C= (p.Ser3111=)
c.2547C= (p.Ser849=)
c.2526C= (p.Ser842=)
n.2523-881G=
n.9424C=
5g.90716690C>GCA445413952ADGRV1c.9408C>G (p.Ser3136=)
c.265+40481C>G (n.265+40481C>G)
n.4867C>G
c.3215C>G
n.2552C>G
c.4137C>G
c.2105C>G
n.9421C>G
c.9405C>G (p.Ser3135=)
c.9327C>G (p.Ser3109=)
c.6711C>G (p.Ser2237=)
n.272-881G>C
c.9429C>G (p.Ser3143=)
c.9426C>G (p.Ser3142=)
c.9348C>G (p.Ser3116=)
c.9333C>G (p.Ser3111=)
c.2547C>G (p.Ser849=)
c.2526C>G (p.Ser842=)
n.2523-881G>C
n.9424C>G
5g.90716690C>TCA3340487ADGRV1c.9408C>T (p.Ser3136=)
c.265+40481C>T (n.265+40481C>T)
n.4867C>T
c.3215C>T
n.2552C>T
c.4137C>T
c.2105C>T
n.9421C>T
c.9405C>T (p.Ser3135=)
c.9327C>T (p.Ser3109=)
c.6711C>T (p.Ser2237=)
n.272-881G>A
c.9429C>T (p.Ser3143=)
c.9426C>T (p.Ser3142=)
c.9348C>T (p.Ser3116=)
c.9333C>T (p.Ser3111=)
c.2547C>T (p.Ser849=)
c.2526C>T (p.Ser842=)
n.2523-881G>A
n.9424C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716691A>CCA360397696ADGRV1c.9409A>C (p.Lys3137Gln)
c.265+40482A>C (n.265+40482A>C)
n.4868A>C
c.3216A>C
n.2553A>C
c.4138A>C
c.2106A>C
n.9422A>C
c.9406A>C (p.Lys3136Gln)
c.9328A>C (p.Lys3110Gln)
c.6712A>C (p.Lys2238Gln)
n.272-882T>G
c.9430A>C (p.Lys3144Gln)
c.9427A>C (p.Lys3143Gln)
c.9349A>C (p.Lys3117Gln)
c.9334A>C (p.Lys3112Gln)
c.2548A>C (p.Lys850Gln)
c.2527A>C (p.Lys843Gln)
n.2523-882T>G
n.9425A>C
5g.90716691A>GCA360397698ADGRV1c.9409A>G (p.Lys3137Glu)
c.265+40482A>G (n.265+40482A>G)
n.4868A>G
c.3216A>G
n.2553A>G
c.4138A>G
c.2106A>G
n.9422A>G
c.9406A>G (p.Lys3136Glu)
c.9328A>G (p.Lys3110Glu)
c.6712A>G (p.Lys2238Glu)
n.272-882T>C
c.9430A>G (p.Lys3144Glu)
c.9427A>G (p.Lys3143Glu)
c.9349A>G (p.Lys3117Glu)
c.9334A>G (p.Lys3112Glu)
c.2548A>G (p.Lys850Glu)
c.2527A>G (p.Lys843Glu)
n.2523-882T>C
n.9425A>G
5g.90716691A>TCA360397695ADGRV1c.9409A>T (p.Lys3137Ter)
c.265+40482A>T (n.265+40482A>T)
n.4868A>T
c.3216A>T
n.2553A>T
c.4138A>T
c.2106A>T
n.9422A>T
c.9406A>T (p.Lys3136Ter)
c.9328A>T (p.Lys3110Ter)
c.6712A>T (p.Lys2238Ter)
n.272-882T>A
c.9430A>T (p.Lys3144Ter)
c.9427A>T (p.Lys3143Ter)
c.9349A>T (p.Lys3117Ter)
c.9334A>T (p.Lys3112Ter)
c.2548A>T (p.Lys850Ter)
c.2527A>T (p.Lys843Ter)
n.2523-882T>A
n.9425A>T
5g.90716692A=CA1562870631ADGRV1c.9410A= (p.Lys3137=)
c.265+40483A= (n.265+40483A=)
n.4869A=
c.3217A=
n.2554A=
c.4139A=
c.2107A=
n.9423A=
c.9407A= (p.Lys3136=)
c.9329A= (p.Lys3110=)
c.6713A= (p.Lys2238=)
n.272-883T=
c.9431A= (p.Lys3144=)
c.9428A= (p.Lys3143=)
c.9350A= (p.Lys3117=)
c.9335A= (p.Lys3112=)
c.2549A= (p.Lys850=)
c.2528A= (p.Lys843=)
n.2523-883T=
n.9426A=
5g.90716692A>CCA360397700ADGRV1c.9410A>C (p.Lys3137Thr)
c.265+40483A>C (n.265+40483A>C)
n.4869A>C
c.3217A>C
n.2554A>C
c.4139A>C
c.2107A>C
n.9423A>C
c.9407A>C (p.Lys3136Thr)
c.9329A>C (p.Lys3110Thr)
c.6713A>C (p.Lys2238Thr)
n.272-883T>G
c.9431A>C (p.Lys3144Thr)
c.9428A>C (p.Lys3143Thr)
c.9350A>C (p.Lys3117Thr)
c.9335A>C (p.Lys3112Thr)
c.2549A>C (p.Lys850Thr)
c.2528A>C (p.Lys843Thr)
n.2523-883T>G
n.9426A>C
 ClinVar dbSNP gnomAD v4
5g.90716692A>GCA360397701ADGRV1c.9410A>G (p.Lys3137Arg)
c.265+40483A>G (n.265+40483A>G)
n.4869A>G
c.3217A>G
n.2554A>G
c.4139A>G
c.2107A>G
n.9423A>G
c.9407A>G (p.Lys3136Arg)
c.9329A>G (p.Lys3110Arg)
c.6713A>G (p.Lys2238Arg)
n.272-883T>C
c.9431A>G (p.Lys3144Arg)
c.9428A>G (p.Lys3143Arg)
c.9350A>G (p.Lys3117Arg)
c.9335A>G (p.Lys3112Arg)
c.2549A>G (p.Lys850Arg)
c.2528A>G (p.Lys843Arg)
n.2523-883T>C
n.9426A>G
5g.90716692A>TCA360397703ADGRV1c.9410A>T (p.Lys3137Ile)
c.265+40483A>T (n.265+40483A>T)
n.4869A>T
c.3217A>T
n.2554A>T
c.4139A>T
c.2107A>T
n.9423A>T
c.9407A>T (p.Lys3136Ile)
c.9329A>T (p.Lys3110Ile)
c.6713A>T (p.Lys2238Ile)
n.272-883T>A
c.9431A>T (p.Lys3144Ile)
c.9428A>T (p.Lys3143Ile)
c.9350A>T (p.Lys3117Ile)
c.9335A>T (p.Lys3112Ile)
c.2549A>T (p.Lys850Ile)
c.2528A>T (p.Lys843Ile)
n.2523-883T>A
n.9426A>T
5g.90716693A>CCA360397705ADGRV1c.9411A>C (p.Lys3137Asn)
c.265+40484A>C (n.265+40484A>C)
n.4870A>C
c.3218A>C
n.2555A>C
c.4140A>C
c.2108A>C
n.9424A>C
c.9408A>C (p.Lys3136Asn)
c.9330A>C (p.Lys3110Asn)
c.6714A>C (p.Lys2238Asn)
n.272-884T>G
c.9432A>C (p.Lys3144Asn)
c.9429A>C (p.Lys3143Asn)
c.9351A>C (p.Lys3117Asn)
c.9336A>C (p.Lys3112Asn)
c.2550A>C (p.Lys850Asn)
c.2529A>C (p.Lys843Asn)
n.2523-884T>G
n.9427A>C
 gnomAD v4
5g.90716693A>GCA445413959ADGRV1c.9411A>G (p.Lys3137=)
c.265+40484A>G (n.265+40484A>G)
n.4870A>G
c.3218A>G
n.2555A>G
c.4140A>G
c.2108A>G
n.9424A>G
c.9408A>G (p.Lys3136=)
c.9330A>G (p.Lys3110=)
c.6714A>G (p.Lys2238=)
n.272-884T>C
c.9432A>G (p.Lys3144=)
c.9429A>G (p.Lys3143=)
c.9351A>G (p.Lys3117=)
c.9336A>G (p.Lys3112=)
c.2550A>G (p.Lys850=)
c.2529A>G (p.Lys843=)
n.2523-884T>C
n.9427A>G
5g.90716693A>TCA360397707ADGRV1c.9411A>T (p.Lys3137Asn)
c.265+40484A>T (n.265+40484A>T)
n.4870A>T
c.3218A>T
n.2555A>T
c.4140A>T
c.2108A>T
n.9424A>T
c.9408A>T (p.Lys3136Asn)
c.9330A>T (p.Lys3110Asn)
c.6714A>T (p.Lys2238Asn)
n.272-884T>A
c.9432A>T (p.Lys3144Asn)
c.9429A>T (p.Lys3143Asn)
c.9351A>T (p.Lys3117Asn)
c.9336A>T (p.Lys3112Asn)
c.2550A>T (p.Lys850Asn)
c.2529A>T (p.Lys843Asn)
n.2523-884T>A
n.9427A>T
5g.90716693_90716694insCCA2541516988ADGRV1c.9411_9412insC (p.Gly3138ArgfsTer28)
c.265+40484_265+40485insC (n.265+40484_265+40485insC)
n.4870_4871insC
c.3218_3219insC
n.2555_2556insC
c.4140_4141insC
c.2108_2109insC
n.9424_9425insC
c.9408_9409insC (p.Gly3137ArgfsTer28)
c.9330_9331insC (p.Gly3111ArgfsTer28)
c.6714_6715insC (p.Gly2239ArgfsTer28)
n.272-885_272-884insG
c.9432_9433insC (p.Gly3145ArgfsTer28)
c.9429_9430insC (p.Gly3144ArgfsTer28)
c.9351_9352insC (p.Gly3118ArgfsTer28)
c.9336_9337insC (p.Gly3113ArgfsTer28)
c.2550_2551insC (p.Gly851ArgfsTer28)
c.2529_2530insC (p.Gly844ArgfsTer28)
n.2523-885_2523-884insG
n.9427_9428insC
 gnomAD v4
5g.90716694G>ACA360397709ADGRV1c.9412G>A (p.Gly3138Ser)
c.265+40485G>A (n.265+40485G>A)
n.4871G>A
c.3219G>A
n.2556G>A
c.4141G>A
c.2109G>A
n.9425G>A
c.9409G>A (p.Gly3137Ser)
c.9331G>A (p.Gly3111Ser)
c.6715G>A (p.Gly2239Ser)
n.272-885C>T
c.9433G>A (p.Gly3145Ser)
c.9430G>A (p.Gly3144Ser)
c.9352G>A (p.Gly3118Ser)
c.9337G>A (p.Gly3113Ser)
c.2551G>A (p.Gly851Ser)
c.2530G>A (p.Gly844Ser)
n.2523-885C>T
n.9428G>A
 gnomAD v4
5g.90716694G>CCA360397710ADGRV1c.9412G>C (p.Gly3138Arg)
c.265+40485G>C (n.265+40485G>C)
n.4871G>C
c.3219G>C
n.2556G>C
c.4141G>C
c.2109G>C
n.9425G>C
c.9409G>C (p.Gly3137Arg)
c.9331G>C (p.Gly3111Arg)
c.6715G>C (p.Gly2239Arg)
n.272-885C>G
c.9433G>C (p.Gly3145Arg)
c.9430G>C (p.Gly3144Arg)
c.9352G>C (p.Gly3118Arg)
c.9337G>C (p.Gly3113Arg)
c.2551G>C (p.Gly851Arg)
c.2530G>C (p.Gly844Arg)
n.2523-885C>G
n.9428G>C
5g.90716694G>TCA360397712ADGRV1c.9412G>T (p.Gly3138Cys)
c.265+40485G>T (n.265+40485G>T)
n.4871G>T
c.3219G>T
n.2556G>T
c.4141G>T
c.2109G>T
n.9425G>T
c.9409G>T (p.Gly3137Cys)
c.9331G>T (p.Gly3111Cys)
c.6715G>T (p.Gly2239Cys)
n.272-885C>A
c.9433G>T (p.Gly3145Cys)
c.9430G>T (p.Gly3144Cys)
c.9352G>T (p.Gly3118Cys)
c.9337G>T (p.Gly3113Cys)
c.2551G>T (p.Gly851Cys)
c.2530G>T (p.Gly844Cys)
n.2523-885C>A
n.9428G>T
 COSMIC
5g.90716695G>ACA360397714ADGRV1c.9413G>A (p.Gly3138Asp)
c.265+40486G>A (n.265+40486G>A)
n.4872G>A
c.3220G>A
n.2557G>A
c.4142G>A
c.2110G>A
n.9426G>A
c.9410G>A (p.Gly3137Asp)
c.9332G>A (p.Gly3111Asp)
c.6716G>A (p.Gly2239Asp)
n.272-886C>T
c.9434G>A (p.Gly3145Asp)
c.9431G>A (p.Gly3144Asp)
c.9353G>A (p.Gly3118Asp)
c.9338G>A (p.Gly3113Asp)
c.2552G>A (p.Gly851Asp)
c.2531G>A (p.Gly844Asp)
n.2523-886C>T
n.9429G>A
 ClinVar gnomAD v4
5g.90716695G>CCA360397715ADGRV1c.9413G>C (p.Gly3138Ala)
c.265+40486G>C (n.265+40486G>C)
n.4872G>C
c.3220G>C
n.2557G>C
c.4142G>C
c.2110G>C
n.9426G>C
c.9410G>C (p.Gly3137Ala)
c.9332G>C (p.Gly3111Ala)
c.6716G>C (p.Gly2239Ala)
n.272-886C>G
c.9434G>C (p.Gly3145Ala)
c.9431G>C (p.Gly3144Ala)
c.9353G>C (p.Gly3118Ala)
c.9338G>C (p.Gly3113Ala)
c.2552G>C (p.Gly851Ala)
c.2531G>C (p.Gly844Ala)
n.2523-886C>G
n.9429G>C
5g.90716695G=CA1562870632ADGRV1c.9413G= (p.Gly3138=)
c.265+40486G= (n.265+40486G=)
n.4872G=
c.3220G=
n.2557G=
c.4142G=
c.2110G=
n.9426G=
c.9410G= (p.Gly3137=)
c.9332G= (p.Gly3111=)
c.6716G= (p.Gly2239=)
n.272-886C=
c.9434G= (p.Gly3145=)
c.9431G= (p.Gly3144=)
c.9353G= (p.Gly3118=)
c.9338G= (p.Gly3113=)
c.2552G= (p.Gly851=)
c.2531G= (p.Gly844=)
n.2523-886C=
n.9429G=
5g.90716695G>TCA3340488ADGRV1c.9413G>T (p.Gly3138Val)
c.265+40486G>T (n.265+40486G>T)
n.4872G>T
c.3220G>T
n.2557G>T
c.4142G>T
c.2110G>T
n.9426G>T
c.9410G>T (p.Gly3137Val)
c.9332G>T (p.Gly3111Val)
c.6716G>T (p.Gly2239Val)
n.272-886C>A
c.9434G>T (p.Gly3145Val)
c.9431G>T (p.Gly3144Val)
c.9353G>T (p.Gly3118Val)
c.9338G>T (p.Gly3113Val)
c.2552G>T (p.Gly851Val)
c.2531G>T (p.Gly844Val)
n.2523-886C>A
n.9429G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716695_90716706dupCA2674547022ADGRV1c.9413_9424dup (p.Val3141_Leu3142insCysTyrIleVal)
c.265+40486_265+40497dup (n.265+40486_265+40497dup)
n.4872_4883dup
c.3220_3231dup
n.2557_2568dup
c.4142_4153dup
c.2110_2121dup
n.9426_9437dup
c.9410_9421dup (p.Val3140_Leu3141insCysTyrIleVal)
c.9332_9343dup (p.Val3114_Leu3115insCysTyrIleVal)
c.6716_6727dup (p.Val2242_Leu2243insCysTyrIleVal)
n.272-897_272-886dup
c.9434_9445dup (p.Val3148_Leu3149insCysTyrIleVal)
c.9431_9442dup (p.Val3147_Leu3148insCysTyrIleVal)
c.9353_9364dup (p.Val3121_Leu3122insCysTyrIleVal)
c.9338_9349dup (p.Val3116_Leu3117insCysTyrIleVal)
c.2552_2563dup (p.Val854_Leu855insCysTyrIleVal)
c.2531_2542dup (p.Val847_Leu848insCysTyrIleVal)
n.2523-897_2523-886dup
n.9429_9440dup
 gnomAD v4
5g.90716696C>ACA3340489ADGRV1c.9414C>A (p.Gly3138=)
c.265+40487C>A (n.265+40487C>A)
n.4873C>A
c.3221C>A
n.2558C>A
c.4143C>A
c.2111C>A
n.9427C>A
c.9411C>A (p.Gly3137=)
c.9333C>A (p.Gly3111=)
c.6717C>A (p.Gly2239=)
n.272-887G>T
c.9435C>A (p.Gly3145=)
c.9432C>A (p.Gly3144=)
c.9354C>A (p.Gly3118=)
c.9339C>A (p.Gly3113=)
c.2553C>A (p.Gly851=)
c.2532C>A (p.Gly844=)
n.2523-887G>T
n.9430C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716696C=CA1562870633ADGRV1c.9414C= (p.Gly3138=)
c.265+40487C= (n.265+40487C=)
n.4873C=
c.3221C=
n.2558C=
c.4143C=
c.2111C=
n.9427C=
c.9411C= (p.Gly3137=)
c.9333C= (p.Gly3111=)
c.6717C= (p.Gly2239=)
n.272-887G=
c.9435C= (p.Gly3145=)
c.9432C= (p.Gly3144=)
c.9354C= (p.Gly3118=)
c.9339C= (p.Gly3113=)
c.2553C= (p.Gly851=)
c.2532C= (p.Gly844=)
n.2523-887G=
n.9430C=
5g.90716696C>GCA3340490ADGRV1c.9414C>G (p.Gly3138=)
c.265+40487C>G (n.265+40487C>G)
n.4873C>G
c.3221C>G
n.2558C>G
c.4143C>G
c.2111C>G
n.9427C>G
c.9411C>G (p.Gly3137=)
c.9333C>G (p.Gly3111=)
c.6717C>G (p.Gly2239=)
n.272-887G>C
c.9435C>G (p.Gly3145=)
c.9432C>G (p.Gly3144=)
c.9354C>G (p.Gly3118=)
c.9339C>G (p.Gly3113=)
c.2553C>G (p.Gly851=)
c.2532C>G (p.Gly844=)
n.2523-887G>C
n.9430C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90716696C>TCA445413964ADGRV1c.9414C>T (p.Gly3138=)
c.265+40487C>T (n.265+40487C>T)
n.4873C>T
c.3221C>T
n.2558C>T
c.4143C>T
c.2111C>T
n.9427C>T
c.9411C>T (p.Gly3137=)
c.9333C>T (p.Gly3111=)
c.6717C>T (p.Gly2239=)
n.272-887G>A
c.9435C>T (p.Gly3145=)
c.9432C>T (p.Gly3144=)
c.9354C>T (p.Gly3118=)
c.9339C>T (p.Gly3113=)
c.2553C>T (p.Gly851=)
c.2532C>T (p.Gly844=)
n.2523-887G>A
n.9430C>T
5g.90716697T>ACA360397719ADGRV1c.9415T>A (p.Tyr3139Asn)
c.265+40488T>A (n.265+40488T>A)
n.4874T>A
c.3222T>A
n.2559T>A
c.4144T>A
c.2112T>A
n.9428T>A
c.9412T>A (p.Tyr3138Asn)
c.9334T>A (p.Tyr3112Asn)
c.6718T>A (p.Tyr2240Asn)
n.272-888A>T
c.9436T>A (p.Tyr3146Asn)
c.9433T>A (p.Tyr3145Asn)
c.9355T>A (p.Tyr3119Asn)
c.9340T>A (p.Tyr3114Asn)
c.2554T>A (p.Tyr852Asn)
c.2533T>A (p.Tyr845Asn)
n.2523-888A>T
n.9431T>A
5g.90716697T>CCA360397722ADGRV1c.9415T>C (p.Tyr3139His)
c.265+40488T>C (n.265+40488T>C)
n.4874T>C
c.3222T>C
n.2559T>C
c.4144T>C
c.2112T>C
n.9428T>C
c.9412T>C (p.Tyr3138His)
c.9334T>C (p.Tyr3112His)
c.6718T>C (p.Tyr2240His)
n.272-888A>G
c.9436T>C (p.Tyr3146His)
c.9433T>C (p.Tyr3145His)
c.9355T>C (p.Tyr3119His)
c.9340T>C (p.Tyr3114His)
c.2554T>C (p.Tyr852His)
c.2533T>C (p.Tyr845His)
n.2523-888A>G
n.9431T>C
 gnomAD v4
5g.90716697T>GCA360397720ADGRV1c.9415T>G (p.Tyr3139Asp)
c.265+40488T>G (n.265+40488T>G)
n.4874T>G
c.3222T>G
n.2559T>G
c.4144T>G
c.2112T>G
n.9428T>G
c.9412T>G (p.Tyr3138Asp)
c.9334T>G (p.Tyr3112Asp)
c.6718T>G (p.Tyr2240Asp)
n.272-888A>C
c.9436T>G (p.Tyr3146Asp)
c.9433T>G (p.Tyr3145Asp)
c.9355T>G (p.Tyr3119Asp)
c.9340T>G (p.Tyr3114Asp)
c.2554T>G (p.Tyr852Asp)
c.2533T>G (p.Tyr845Asp)
n.2523-888A>C
n.9431T>G
5g.90716698A=CA1562870634ADGRV1c.9416A= (p.Tyr3139=)
c.265+40489A= (n.265+40489A=)
n.4875A=
c.3223A=
n.2560A=
c.4145A=
c.2113A=
n.9429A=
c.9413A= (p.Tyr3138=)
c.9335A= (p.Tyr3112=)
c.6719A= (p.Tyr2240=)
n.272-889T=
c.9437A= (p.Tyr3146=)
c.9434A= (p.Tyr3145=)
c.9356A= (p.Tyr3119=)
c.9341A= (p.Tyr3114=)
c.2555A= (p.Tyr852=)
c.2534A= (p.Tyr845=)
n.2523-889T=
n.9432A=
5g.90716698A>CCA360397724ADGRV1c.9416A>C (p.Tyr3139Ser)
c.265+40489A>C (n.265+40489A>C)
n.4875A>C
c.3223A>C
n.2560A>C
c.4145A>C
c.2113A>C
n.9429A>C
c.9413A>C (p.Tyr3138Ser)
c.9335A>C (p.Tyr3112Ser)
c.6719A>C (p.Tyr2240Ser)
n.272-889T>G
c.9437A>C (p.Tyr3146Ser)
c.9434A>C (p.Tyr3145Ser)
c.9356A>C (p.Tyr3119Ser)
c.9341A>C (p.Tyr3114Ser)
c.2555A>C (p.Tyr852Ser)
c.2534A>C (p.Tyr845Ser)
n.2523-889T>G
n.9432A>C
5g.90716698A>GCA360397725ADGRV1c.9416A>G (p.Tyr3139Cys)
c.265+40489A>G (n.265+40489A>G)
n.4875A>G
c.3223A>G
n.2560A>G
c.4145A>G
c.2113A>G
n.9429A>G
c.9413A>G (p.Tyr3138Cys)
c.9335A>G (p.Tyr3112Cys)
c.6719A>G (p.Tyr2240Cys)
n.272-889T>C
c.9437A>G (p.Tyr3146Cys)
c.9434A>G (p.Tyr3145Cys)
c.9356A>G (p.Tyr3119Cys)
c.9341A>G (p.Tyr3114Cys)
c.2555A>G (p.Tyr852Cys)
c.2534A>G (p.Tyr845Cys)
n.2523-889T>C
n.9432A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90716698A>TCA360397727ADGRV1c.9416A>T (p.Tyr3139Phe)
c.265+40489A>T (n.265+40489A>T)
n.4875A>T
c.3223A>T
n.2560A>T
c.4145A>T
c.2113A>T
n.9429A>T
c.9413A>T (p.Tyr3138Phe)
c.9335A>T (p.Tyr3112Phe)
c.6719A>T (p.Tyr2240Phe)
n.272-889T>A
c.9437A>T (p.Tyr3146Phe)
c.9434A>T (p.Tyr3145Phe)
c.9356A>T (p.Tyr3119Phe)
c.9341A>T (p.Tyr3114Phe)
c.2555A>T (p.Tyr852Phe)
c.2534A>T (p.Tyr845Phe)
n.2523-889T>A
n.9432A>T
5g.90716698_90716699insAGCA2767405872ADGRV1c.9416_9417insAG (p.Tyr3139Ter)
c.265+40489_265+40490insAG (n.265+40489_265+40490insAG)
n.4875_4876insAG
c.3223_3224insAG
n.2560_2561insAG
c.4145_4146insAG
c.2113_2114insAG
n.9429_9430insAG
c.9413_9414insAG (p.Tyr3138Ter)
c.9335_9336insAG (p.Tyr3112Ter)
c.6719_6720insAG (p.Tyr2240Ter)
n.272-890_272-889insCT
c.9437_9438insAG (p.Tyr3146Ter)
c.9434_9435insAG (p.Tyr3145Ter)
c.9356_9357insAG (p.Tyr3119Ter)
c.9341_9342insAG (p.Tyr3114Ter)
c.2555_2556insAG (p.Tyr852Ter)
c.2534_2535insAG (p.Tyr845Ter)
n.2523-890_2523-889insCT
n.9432_9433insAG
5g.90716699T>ACA360397729ADGRV1c.9417T>A (p.Tyr3139Ter)
c.265+40490T>A (n.265+40490T>A)
n.4876T>A
c.3224T>A
n.2561T>A
c.4146T>A
c.2114T>A
n.9430T>A
c.9414T>A (p.Tyr3138Ter)
c.9336T>A (p.Tyr3112Ter)
c.6720T>A (p.Tyr2240Ter)
n.272-890A>T
c.9438T>A (p.Tyr3146Ter)
c.9435T>A (p.Tyr3145Ter)
c.9357T>A (p.Tyr3119Ter)
c.9342T>A (p.Tyr3114Ter)
c.2556T>A (p.Tyr852Ter)
c.2535T>A (p.Tyr845Ter)
n.2523-890A>T
n.9433T>A
5g.90716699T>CCA445413973ADGRV1c.9417T>C (p.Tyr3139=)
c.265+40490T>C (n.265+40490T>C)
n.4876T>C
c.3224T>C
n.2561T>C
c.4146T>C
c.2114T>C
n.9430T>C
c.9414T>C (p.Tyr3138=)
c.9336T>C (p.Tyr3112=)
c.6720T>C (p.Tyr2240=)
n.272-890A>G
c.9438T>C (p.Tyr3146=)
c.9435T>C (p.Tyr3145=)
c.9357T>C (p.Tyr3119=)
c.9342T>C (p.Tyr3114=)
c.2556T>C (p.Tyr852=)
c.2535T>C (p.Tyr845=)
n.2523-890A>G
n.9433T>C
5g.90716699T>GCA360397731ADGRV1c.9417T>G (p.Tyr3139Ter)
c.265+40490T>G (n.265+40490T>G)
n.4876T>G
c.3224T>G
n.2561T>G
c.4146T>G
c.2114T>G
n.9430T>G
c.9414T>G (p.Tyr3138Ter)
c.9336T>G (p.Tyr3112Ter)
c.6720T>G (p.Tyr2240Ter)
n.272-890A>C
c.9438T>G (p.Tyr3146Ter)
c.9435T>G (p.Tyr3145Ter)
c.9357T>G (p.Tyr3119Ter)
c.9342T>G (p.Tyr3114Ter)
c.2556T>G (p.Tyr852Ter)
c.2535T>G (p.Tyr845Ter)
n.2523-890A>C
n.9433T>G
5g.90716700A>CCA360397732ADGRV1c.9418A>C (p.Ile3140Leu)
c.265+40491A>C (n.265+40491A>C)
n.4877A>C
c.3225A>C
n.2562A>C
c.4147A>C
c.2115A>C
n.9431A>C
c.9415A>C (p.Ile3139Leu)
c.9337A>C (p.Ile3113Leu)
c.6721A>C (p.Ile2241Leu)
n.272-891T>G
c.9439A>C (p.Ile3147Leu)
c.9436A>C (p.Ile3146Leu)
c.9358A>C (p.Ile3120Leu)
c.9343A>C (p.Ile3115Leu)
c.2557A>C (p.Ile853Leu)
c.2536A>C (p.Ile846Leu)
n.2523-891T>G
n.9434A>C
5g.90716700A>GCA360397734ADGRV1c.9418A>G (p.Ile3140Val)
c.265+40491A>G (n.265+40491A>G)
n.4877A>G
c.3225A>G
n.2562A>G
c.4147A>G
c.2115A>G
n.9431A>G
c.9415A>G (p.Ile3139Val)
c.9337A>G (p.Ile3113Val)
c.6721A>G (p.Ile2241Val)
n.272-891T>C
c.9439A>G (p.Ile3147Val)
c.9436A>G (p.Ile3146Val)
c.9358A>G (p.Ile3120Val)
c.9343A>G (p.Ile3115Val)
c.2557A>G (p.Ile853Val)
c.2536A>G (p.Ile846Val)
n.2523-891T>C
n.9434A>G
 gnomAD v4
5g.90716700A>TCA360397735ADGRV1c.9418A>T (p.Ile3140Phe)
c.265+40491A>T (n.265+40491A>T)
n.4877A>T
c.3225A>T
n.2562A>T
c.4147A>T
c.2115A>T
n.9431A>T
c.9415A>T (p.Ile3139Phe)
c.9337A>T (p.Ile3113Phe)
c.6721A>T (p.Ile2241Phe)
n.272-891T>A
c.9439A>T (p.Ile3147Phe)
c.9436A>T (p.Ile3146Phe)
c.9358A>T (p.Ile3120Phe)
c.9343A>T (p.Ile3115Phe)
c.2557A>T (p.Ile853Phe)
c.2536A>T (p.Ile846Phe)
n.2523-891T>A
n.9434A>T
5g.90716701T>ACA360397737ADGRV1c.9419T>A (p.Ile3140Asn)
c.265+40492T>A (n.265+40492T>A)
n.4878T>A
c.3226T>A
n.2563T>A
c.4148T>A
c.2116T>A
n.9432T>A
c.9416T>A (p.Ile3139Asn)
c.9338T>A (p.Ile3113Asn)
c.6722T>A (p.Ile2241Asn)
n.272-892A>T
c.9440T>A (p.Ile3147Asn)
c.9437T>A (p.Ile3146Asn)
c.9359T>A (p.Ile3120Asn)
c.9344T>A (p.Ile3115Asn)
c.2558T>A (p.Ile853Asn)
c.2537T>A (p.Ile846Asn)
n.2523-892A>T
n.9435T>A
5g.90716701T>CCA360397739ADGRV1c.9419T>C (p.Ile3140Thr)
c.265+40492T>C (n.265+40492T>C)
n.4878T>C
c.3226T>C
n.2563T>C
c.4148T>C
c.2116T>C
n.9432T>C
c.9416T>C (p.Ile3139Thr)
c.9338T>C (p.Ile3113Thr)
c.6722T>C (p.Ile2241Thr)
n.272-892A>G
c.9440T>C (p.Ile3147Thr)
c.9437T>C (p.Ile3146Thr)
c.9359T>C (p.Ile3120Thr)
c.9344T>C (p.Ile3115Thr)
c.2558T>C (p.Ile853Thr)
c.2537T>C (p.Ile846Thr)
n.2523-892A>G
n.9435T>C
5g.90716701T>GCA360397740ADGRV1c.9419T>G (p.Ile3140Ser)
c.265+40492T>G (n.265+40492T>G)
n.4878T>G
c.3226T>G
n.2563T>G
c.4148T>G
c.2116T>G
n.9432T>G
c.9416T>G (p.Ile3139Ser)
c.9338T>G (p.Ile3113Ser)
c.6722T>G (p.Ile2241Ser)
n.272-892A>C
c.9440T>G (p.Ile3147Ser)
c.9437T>G (p.Ile3146Ser)
c.9359T>G (p.Ile3120Ser)
c.9344T>G (p.Ile3115Ser)
c.2558T>G (p.Ile853Ser)
c.2537T>G (p.Ile846Ser)
n.2523-892A>C
n.9435T>G

Number of alleles fetched