Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90716602C>A | CA360397381 | ADGRV1 | c.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 | |
5 | g.90716602C>G | CA360397382 | ADGRV1 | c.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 |
5 | g.90716602C>T | CA360397384 | ADGRV1 | c.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 | |
5 | g.90716603T>A | CA445413639 | ADGRV1 | c.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 | |
5 | g.90716603T>C | CA445413642 | ADGRV1 | c.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 |
5 | g.90716603T>G | CA445413643 | ADGRV1 | c.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 |
5 | g.90716603T= | CA1562870607 | ADGRV1 | c.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= | |
5 | g.90716604G>A | CA360397386 | ADGRV1 | c.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 |
5 | g.90716604G>C | CA360397388 | ADGRV1 | c.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 | |
5 | g.90716604G>T | CA360397389 | ADGRV1 | c.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 | |
5 | g.90716605C>A | CA360397391 | ADGRV1 | c.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 | |
5 | g.90716605C>G | CA360397393 | ADGRV1 | c.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 | |
5 | g.90716605C>T | CA360397395 | ADGRV1 | c.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 | |
5 | g.90716606A= | CA1562870608 | ADGRV1 | c.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= | |
5 | g.90716606A>C | CA445413650 | ADGRV1 | c.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 |
5 | g.90716606A>G | CA445413651 | ADGRV1 | c.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 |
5 | g.90716606A>T | CA445413653 | ADGRV1 | c.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 | |
5 | g.90716607C>A | CA360397398 | ADGRV1 | c.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 | |
5 | g.90716607C>G | CA360397400 | ADGRV1 | c.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 |
5 | g.90716607C>T | CA360397396 | ADGRV1 | c.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 |
5 | g.90716608A>C | CA360397401 | ADGRV1 | c.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 | |
5 | g.90716608A>G | CA360397402 | ADGRV1 | c.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 | |
5 | g.90716608A>T | CA360397404 | ADGRV1 | c.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 | |
5 | g.90716609A>C | CA360397406 | ADGRV1 | c.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 | |
5 | g.90716609A>G | CA445413663 | ADGRV1 | c.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 |
5 | g.90716609A>T | CA360397408 | ADGRV1 | c.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 | |
5 | g.90716610G>A | CA360397409 | ADGRV1 | c.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 |
5 | g.90716610G>C | CA360397410 | ADGRV1 | c.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 | |
5 | g.90716610G= | CA1562870609 | ADGRV1 | c.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= | |
5 | g.90716610G>T | CA360397411 | ADGRV1 | c.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 | |
5 | g.90716611G>A | CA10606765 | ADGRV1 | c.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 |
5 | g.90716611G>C | CA360397413 | ADGRV1 | c.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 |
5 | g.90716611G= | CA1562870610 | ADGRV1 | c.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= | |
5 | g.90716611G>T | CA360397414 | ADGRV1 | c.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 | |
5 | g.90716612A>C | CA445413670 | ADGRV1 | c.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 | |
5 | g.90716612A>G | CA445413673 | ADGRV1 | c.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 |
5 | g.90716612A>T | CA445413675 | ADGRV1 | c.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 | |
5 | g.90716613T>A | CA360397416 | ADGRV1 | c.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 | |
5 | g.90716613T>C | CA445413678 | ADGRV1 | c.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 | |
5 | g.90716613T>G | CA360397417 | ADGRV1 | c.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 | |
5 | g.90716614T>A | CA360397422 | ADGRV1 | c.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 | |
5 | g.90716614T>C | CA360397421 | ADGRV1 | c.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 |
5 | g.90716614T>G | CA360397420 | ADGRV1 | c.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 | |
5 | g.90716614T= | CA1562870611 | ADGRV1 | c.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= | |
5 | g.90716615G>A | CA445413687 | ADGRV1 | c.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 |
5 | g.90716615G>C | CA3340482 | ADGRV1 | c.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 |
5 | g.90716615G= | CA1562870612 | ADGRV1 | c.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= | |
5 | g.90716615G>T | CA360397424 | ADGRV1 | c.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 | |
5 | g.90716616T>A | CA360397426 | ADGRV1 | c.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 | |
5 | g.90716616T>C | CA360397428 | ADGRV1 | c.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 |
5 | g.90716616T>G | CA360397430 | ADGRV1 | c.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 | |
5 | g.90716617T>A | CA360397431 | ADGRV1 | c.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 | |
5 | g.90716617T>C | CA360397433 | ADGRV1 | c.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 |
5 | g.90716617T>G | CA360397434 | ADGRV1 | c.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 | |
5 | g.90716618T>A | CA360397436 | ADGRV1 | c.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 | |
5 | g.90716618T>C | CA445413696 | ADGRV1 | c.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 | |
5 | g.90716618T>G | CA360397438 | ADGRV1 | c.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 | |
5 | g.90716619G>A | CA360397439 | ADGRV1 | c.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 | |
5 | g.90716619G>C | CA360397440 | ADGRV1 | c.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 | |
5 | g.90716619G>T | CA360397442 | ADGRV1 | c.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 | |
5 | g.90716620G>A | CA360397446 | ADGRV1 | c.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 |
5 | g.90716620G>C | CA360397447 | ADGRV1 | c.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 | |
5 | g.90716620G>T | CA360397444 | ADGRV1 | c.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 |
5 | g.90716621A>C | CA445413705 | ADGRV1 | c.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 | |
5 | g.90716621A>G | CA445413703 | ADGRV1 | c.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 | |
5 | g.90716621A>T | CA445413702 | ADGRV1 | c.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 | |
5 | g.90716622A>C | CA360397449 | ADGRV1 | c.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 |
5 | g.90716622A>G | CA360397452 | ADGRV1 | c.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 |
5 | g.90716622A>T | CA360397450 | ADGRV1 | c.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 | |
5 | g.90716623C>A | CA360397453 | ADGRV1 | c.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 | |
5 | g.90716623C>G | CA360397457 | ADGRV1 | c.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 | |
5 | g.90716623C>T | CA360397455 | ADGRV1 | c.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 | |
5 | g.90716624A>C | CA445413714 | ADGRV1 | c.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 | |
5 | g.90716624A>G | CA445413716 | ADGRV1 | c.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 | |
5 | g.90716624A>T | CA445413718 | ADGRV1 | c.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 | |
5 | g.90716625G>A | CA360397458 | ADGRV1 | c.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 |
5 | g.90716625G>C | CA360397460 | ADGRV1 | c.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 | |
5 | g.90716625G>T | CA360397461 | ADGRV1 | c.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 | |
5 | g.90716626T>A | CA360397463 | ADGRV1 | c.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 | |
5 | g.90716626T>C | CA360397465 | ADGRV1 | c.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 | |
5 | g.90716626T>G | CA360397466 | ADGRV1 | c.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 | |
5 | g.90716627G>A | CA445413727 | ADGRV1 | c.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 |
5 | g.90716627G>C | CA445413731 | ADGRV1 | c.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 | |
5 | g.90716627G>T | CA445413729 | ADGRV1 | c.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 | |
5 | g.90716628A= | CA1562870613 | ADGRV1 | c.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= | |
5 | g.90716628A>C | CA360397468 | ADGRV1 | c.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 | |
5 | g.90716628A>G | CA360397469 | ADGRV1 | c.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 |
5 | g.90716628A>T | CA360397471 | ADGRV1 | c.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 |
5 | g.90716629C>A | CA360397473 | ADGRV1 | c.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 | |
5 | g.90716629C>G | CA360397474 | ADGRV1 | c.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 | |
5 | g.90716629C>T | CA360397476 | ADGRV1 | c.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 | |
5 | g.90716636_90716640del | CA2674547020 | ADGRV1 | c.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 |
5 | g.90716630A= | CA1562870614 | ADGRV1 | c.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= | |
5 | g.90716630A>C | CA445413734 | ADGRV1 | c.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 | |
5 | g.90716630A>G | CA3340483 | ADGRV1 | c.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 |
5 | g.90716630A>T | CA445413736 | ADGRV1 | c.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 | |
5 | g.90716631G>A | CA360397482 | ADGRV1 | c.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 |
5 | g.90716631G>C | CA360397479 | ADGRV1 | c.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 |
5 | g.90716631G= | CA1562870615 | ADGRV1 | c.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= | |
5 | g.90716631G>T | CA360397480 | ADGRV1 | c.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 | |
5 | g.90716632T>A | CA360397484 | ADGRV1 | c.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 | |
5 | g.90716632T>C | CA360397485 | ADGRV1 | c.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 |
5 | g.90716632T>G | CA360397486 | ADGRV1 | c.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 |
5 | g.90716632T= | CA1562870616 | ADGRV1 | c.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= | |
5 | g.90716633T>A | CA445413743 | ADGRV1 | c.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 | |
5 | g.90716633T>C | CA445413746 | ADGRV1 | c.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 | |
5 | g.90716633T>G | CA445413744 | ADGRV1 | c.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 | |
5 | g.90716634C>A | CA360397488 | ADGRV1 | c.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 | |
5 | g.90716634C>G | CA360397490 | ADGRV1 | c.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 |
5 | g.90716634C>T | CA360397491 | ADGRV1 | c.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 |
5 | g.90716635A>C | CA360397493 | ADGRV1 | c.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 | |
5 | g.90716635A>G | CA360397494 | ADGRV1 | c.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 | |
5 | g.90716635A>T | CA360397496 | ADGRV1 | c.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 | |
5 | g.90716636G>A | CA445413751 | ADGRV1 | c.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 | |
5 | g.90716636G>C | CA360397497 | ADGRV1 | c.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 | |
5 | g.90716636G>T | CA360397499 | ADGRV1 | c.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 | |
5 | g.90716637T>A | CA360397501 | ADGRV1 | c.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 | |
5 | g.90716637T>C | CA360397504 | ADGRV1 | c.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 | |
5 | g.90716637T>G | CA360397502 | ADGRV1 | c.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 | |
5 | g.90716638T>A | CA360397506 | ADGRV1 | c.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 | |
5 | g.90716638T>C | CA360397507 | ADGRV1 | c.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 | |
5 | g.90716638T>G | CA360397508 | ADGRV1 | c.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 | |
5 | g.90716639C>A | CA360397510 | ADGRV1 | c.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 | |
5 | g.90716639C>G | CA360397512 | ADGRV1 | c.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 | |
5 | g.90716639C>T | CA445413760 | ADGRV1 | c.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 |
5 | g.90716640A>C | CA360397514 | ADGRV1 | c.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 | |
5 | g.90716640A>G | CA360397515 | ADGRV1 | c.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 | |
5 | g.90716640A>T | CA360397517 | ADGRV1 | c.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 | |
5 | g.90716641T>A | CA360397519 | ADGRV1 | c.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 | |
5 | g.90716641T>C | CA360397520 | ADGRV1 | c.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 |
5 | g.90716641T>G | CA360397521 | ADGRV1 | c.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 | |
5 | g.90716641T= | CA1562870617 | ADGRV1 | c.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= | |
5 | g.90716642T>A | CA445413773 | ADGRV1 | c.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 | |
5 | g.90716642T>C | CA445413769 | ADGRV1 | c.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 | |
5 | g.90716642T>G | CA360397522 | ADGRV1 | c.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 | |
5 | g.90716643G>A | CA360397523 | ADGRV1 | c.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 |
5 | g.90716643G>C | CA360397527 | ADGRV1 | c.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 | |
5 | g.90716643G= | CA1562870618 | ADGRV1 | c.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= | |
5 | g.90716643G>T | CA360397525 | ADGRV1 | c.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 |
5 | g.90716647_90716655del | CA2767420173 | ADGRV1 | c.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 | |
5 | g.90716644T>A | CA360397529 | ADGRV1 | c.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 | |
5 | g.90716644T>C | CA360397530 | ADGRV1 | c.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 |
5 | g.90716644T>G | CA360397531 | ADGRV1 | c.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 | |
5 | g.90716645G>A | CA445413775 | ADGRV1 | c.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 | |
5 | g.90716645G>C | CA445413777 | ADGRV1 | c.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 | |
5 | g.90716645G>T | CA445413778 | ADGRV1 | c.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 | |
5 | g.90716646A>C | CA360397533 | ADGRV1 | c.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 | |
5 | g.90716646A>G | CA360397535 | ADGRV1 | c.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 | |
5 | g.90716646A>T | CA360397536 | ADGRV1 | c.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 | |
5 | g.90716647C>A | CA360397538 | ADGRV1 | c.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 | |
5 | g.90716647C= | CA1562870619 | ADGRV1 | c.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= | |
5 | g.90716647C>G | CA360397539 | ADGRV1 | c.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 | |
5 | g.90716647C>T | CA360397540 | ADGRV1 | c.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 |
5 | g.90716648A= | CA1562870620 | ADGRV1 | c.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= | |
5 | g.90716648A>C | CA445413785 | ADGRV1 | c.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 | |
5 | g.90716648A>G | CA202910 | ADGRV1 | c.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 |
5 | g.90716648A>T | CA445413788 | ADGRV1 | c.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 | |
5 | g.90716649G>A | CA360397545 | ADGRV1 | c.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 |
5 | g.90716649G>C | CA360397546 | ADGRV1 | c.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 |
5 | g.90716649G>T | CA360397543 | ADGRV1 | c.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 | |
5 | g.90716650A>C | CA360397551 | ADGRV1 | c.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 | |
5 | g.90716650A>G | CA360397548 | ADGRV1 | c.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 | |
5 | g.90716650A>T | CA360397549 | ADGRV1 | c.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 | |
5 | g.90716651A>C | CA360397553 | ADGRV1 | c.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 | |
5 | g.90716651A>G | CA445413799 | ADGRV1 | c.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 | |
5 | g.90716651A>T | CA360397554 | ADGRV1 | c.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 | |
5 | g.90716652G>A | CA360397556 | ADGRV1 | c.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 | |
5 | g.90716652G>C | CA360397558 | ADGRV1 | c.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 | |
5 | g.90716652G>T | CA360397559 | ADGRV1 | c.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 | |
5 | g.90716653T>A | CA360397561 | ADGRV1 | c.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 | |
5 | g.90716653T>C | CA360397562 | ADGRV1 | c.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 | |
5 | g.90716653T>G | CA360397564 | ADGRV1 | c.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 | |
5 | g.90716654G>A | CA445413807 | ADGRV1 | c.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 |
5 | g.90716654G>C | CA445413809 | ADGRV1 | c.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 | |
5 | g.90716654G>T | CA445413810 | ADGRV1 | c.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 | |
5 | g.90716655A>C | CA360397565 | ADGRV1 | c.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 | |
5 | g.90716655A>G | CA360397567 | ADGRV1 | c.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 | |
5 | g.90716655A>T | CA360397568 | ADGRV1 | c.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 |
5 | g.90716656A>C | CA360397574 | ADGRV1 | c.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 | |
5 | g.90716656A>G | CA360397570 | ADGRV1 | c.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 | |
5 | g.90716656A>T | CA360397572 | ADGRV1 | c.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 |
5 | g.90716657T>A | CA360397576 | ADGRV1 | c.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 | |
5 | g.90716657T>C | CA445413813 | ADGRV1 | c.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 | |
5 | g.90716657T>G | CA360397577 | ADGRV1 | c.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 | |
5 | g.90716658T>A | CA360397579 | ADGRV1 | c.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 | |
5 | g.90716658T>C | CA3340484 | ADGRV1 | c.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 |
5 | g.90716658T>G | CA360397581 | ADGRV1 | c.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 | |
5 | g.90716658T= | CA1562870621 | ADGRV1 | c.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= | |
5 | g.90716659C>A | CA360397583 | ADGRV1 | c.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 | |
5 | g.90716659C>G | CA360397585 | ADGRV1 | c.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 | |
5 | g.90716659C>T | CA360397586 | ADGRV1 | c.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 |
5 | g.90716660C>A | CA445413826 | ADGRV1 | c.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 | |
5 | g.90716660C>G | CA445413828 | ADGRV1 | c.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 | |
5 | g.90716660C>T | CA445413830 | ADGRV1 | c.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 | |
5 | g.90716661T>A | CA360397587 | ADGRV1 | c.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 | |
5 | g.90716661T>C | CA360397589 | ADGRV1 | c.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 | |
5 | g.90716661T>G | CA360397591 | ADGRV1 | c.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 | |
5 | g.90716662C>A | CA360397596 | ADGRV1 | c.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 | |
5 | g.90716662C= | CA1562870622 | ADGRV1 | c.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= | |
5 | g.90716662C>G | CA360397594 | ADGRV1 | c.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 |
5 | g.90716662C>T | CA360397593 | ADGRV1 | c.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 |
5 | g.90716663A>C | CA445413839 | ADGRV1 | c.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 | |
5 | g.90716663A>G | CA445413837 | ADGRV1 | c.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 | |
5 | g.90716663A>T | CA445413838 | ADGRV1 | c.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 | |
5 | g.90716664A>C | CA360397598 | ADGRV1 | c.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 | |
5 | g.90716664A>G | CA360397599 | ADGRV1 | c.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 | |
5 | g.90716664A>T | CA360397601 | ADGRV1 | c.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 | |
5 | g.90716665A>C | CA360397603 | ADGRV1 | c.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 | |
5 | g.90716665A>G | CA360397605 | ADGRV1 | c.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 | |
5 | g.90716665A>T | CA360397606 | ADGRV1 | c.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 | |
5 | g.90716666T>A | CA122805712 | ADGRV1 | c.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 |
5 | g.90716666T>C | CA445413854 | ADGRV1 | c.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 | |
5 | g.90716666T>G | CA360397608 | ADGRV1 | c.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 | |
5 | g.90716666T= | CA1562870623 | ADGRV1 | c.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= | |
5 | g.90716667G>A | CA360397610 | ADGRV1 | c.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 |
5 | g.90716667G>C | CA360397611 | ADGRV1 | c.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 | |
5 | g.90716667G>T | CA360397612 | ADGRV1 | c.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 | |
5 | g.90716668A>C | CA360397614 | ADGRV1 | c.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 | |
5 | g.90716668A>G | CA360397616 | ADGRV1 | c.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 | |
5 | g.90716668A>T | CA360397617 | ADGRV1 | c.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 | |
5 | g.90716669A= | CA1562870624 | ADGRV1 | c.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= | |
5 | g.90716669A>C | CA360397620 | ADGRV1 | c.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 | |
5 | g.90716669A>G | CA3340485 | ADGRV1 | c.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 |
5 | g.90716669A>T | CA360397621 | ADGRV1 | c.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 | |
5 | g.90716670T>A | CA360397623 | ADGRV1 | c.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 | |
5 | g.90716670T>C | CA360397625 | ADGRV1 | c.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 | |
5 | g.90716670T>G | CA360397627 | ADGRV1 | c.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 | |
5 | g.90716671C>A | CA360397629 | ADGRV1 | c.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 | |
5 | g.90716671C>G | CA360397630 | ADGRV1 | c.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 | |
5 | g.90716671C>T | CA360397632 | ADGRV1 | c.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 | |
5 | g.90716672T>A | CA445413882 | ADGRV1 | c.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 | |
5 | g.90716672T>C | CA445413883 | ADGRV1 | c.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 | |
5 | g.90716672T>G | CA445413884 | ADGRV1 | c.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 |
5 | g.90716672T= | CA1562870625 | ADGRV1 | c.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= | |
5 | g.90716673A= | CA1562870626 | ADGRV1 | c.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= | |
5 | g.90716673A>C | CA360397634 | ADGRV1 | c.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 | |
5 | g.90716673A>G | CA122805713 | ADGRV1 | c.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 |
5 | g.90716673A>T | CA360397636 | ADGRV1 | c.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 | |
5 | g.90716675del | CA2674547021 | ADGRV1 | c.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 |
5 | g.90716674A>C | CA360397638 | ADGRV1 | c.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 |
5 | g.90716674A>G | CA360397640 | ADGRV1 | c.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 | |
5 | g.90716674A>T | CA360397641 | ADGRV1 | c.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 | |
5 | g.90716675A>C | CA360397645 | ADGRV1 | c.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 | |
5 | g.90716675A>G | CA445413895 | ADGRV1 | c.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 | |
5 | g.90716675A>T | CA360397643 | ADGRV1 | c.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 | |
5 | g.90716676G>A | CA360397647 | ADGRV1 | c.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 | |
5 | g.90716676G>C | CA360397649 | ADGRV1 | c.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 | |
5 | g.90716676G= | CA1562870627 | ADGRV1 | c.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= | |
5 | g.90716676G>T | CA3340486 | ADGRV1 | c.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 |
5 | g.90716677A= | CA1562870628 | ADGRV1 | c.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= | |
5 | g.90716677A>C | CA360397651 | ADGRV1 | c.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 | |
5 | g.90716677A>G | CA360397653 | ADGRV1 | c.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 |
5 | g.90716677A>T | CA360397654 | ADGRV1 | c.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 | |
5 | g.90716678T>A | CA360397656 | ADGRV1 | c.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 | |
5 | g.90716678T>C | CA445413907 | ADGRV1 | c.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 | |
5 | g.90716678T>G | CA360397658 | ADGRV1 | c.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 | |
5 | g.90716679C>A | CA360397659 | ADGRV1 | c.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 | |
5 | g.90716679C>G | CA360397661 | ADGRV1 | c.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 | |
5 | g.90716679C>T | CA445413912 | ADGRV1 | c.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 | |
5 | g.90716680T>A | CA360397662 | ADGRV1 | c.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 | |
5 | g.90716680T>C | CA360397663 | ADGRV1 | c.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 | |
5 | g.90716680T>G | CA360397664 | ADGRV1 | c.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 | |
5 | g.90716681G>A | CA445413918 | ADGRV1 | c.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 | |
5 | g.90716681G>C | CA445413920 | ADGRV1 | c.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 | |
5 | g.90716681G>T | CA445413921 | ADGRV1 | c.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 | |
5 | g.90716682A>C | CA360397666 | ADGRV1 | c.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 | |
5 | g.90716682A>G | CA360397668 | ADGRV1 | c.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 | |
5 | g.90716682A>T | CA360397670 | ADGRV1 | c.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 | |
5 | g.90716683C>A | CA360397673 | ADGRV1 | c.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 | |
5 | g.90716683C>G | CA360397672 | ADGRV1 | c.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 | |
5 | g.90716683C>T | CA360397671 | ADGRV1 | c.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 | |
5 | g.90716684T>A | CA445413927 | ADGRV1 | c.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 |
5 | g.90716684T>C | CA445413928 | ADGRV1 | c.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 | |
5 | g.90716684T>G | CA445413929 | ADGRV1 | c.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 | |
5 | g.90716685C>A | CA360397675 | ADGRV1 | c.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 | |
5 | g.90716685C>G | CA360397677 | ADGRV1 | c.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 | |
5 | g.90716685C>T | CA360397678 | ADGRV1 | c.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 |
5 | g.90716686C>A | CA360397679 | ADGRV1 | c.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 | |
5 | g.90716686C>G | CA360397681 | ADGRV1 | c.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 | |
5 | g.90716686C>T | CA360397682 | ADGRV1 | c.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 | |
5 | g.90716688_90716689insTAGAGTCTTCTT | CA2569726758 | ADGRV1 | c.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 |
5 | g.90716687T>A | CA445413934 | ADGRV1 | c.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 | |
5 | g.90716687T>C | CA445413937 | ADGRV1 | c.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 | |
5 | g.90716687T>G | CA445413939 | ADGRV1 | c.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 | |
5 | g.90716688T>A | CA360397684 | ADGRV1 | c.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 | |
5 | g.90716688T>C | CA360397686 | ADGRV1 | c.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 | |
5 | g.90716688T>G | CA360397687 | ADGRV1 | c.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 | |
5 | g.90716689C>A | CA360397689 | ADGRV1 | c.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 | |
5 | g.90716689C= | CA1562870629 | ADGRV1 | c.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= | |
5 | g.90716689C>G | CA360397691 | ADGRV1 | c.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 |
5 | g.90716689C>T | CA360397693 | ADGRV1 | c.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 |
5 | g.90716690C>A | CA445413948 | ADGRV1 | c.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 | |
5 | g.90716690C= | CA1562870630 | ADGRV1 | c.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= | |
5 | g.90716690C>G | CA445413952 | ADGRV1 | c.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 | |
5 | g.90716690C>T | CA3340487 | ADGRV1 | c.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 |
5 | g.90716691A>C | CA360397696 | ADGRV1 | c.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 | |
5 | g.90716691A>G | CA360397698 | ADGRV1 | c.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 | |
5 | g.90716691A>T | CA360397695 | ADGRV1 | c.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 | |
5 | g.90716692A= | CA1562870631 | ADGRV1 | c.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= | |
5 | g.90716692A>C | CA360397700 | ADGRV1 | c.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 |
5 | g.90716692A>G | CA360397701 | ADGRV1 | c.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 | |
5 | g.90716692A>T | CA360397703 | ADGRV1 | c.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 | |
5 | g.90716693A>C | CA360397705 | ADGRV1 | c.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 |
5 | g.90716693A>G | CA445413959 | ADGRV1 | c.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 | |
5 | g.90716693A>T | CA360397707 | ADGRV1 | c.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 | |
5 | g.90716693_90716694insC | CA2541516988 | ADGRV1 | c.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 |
5 | g.90716694G>A | CA360397709 | ADGRV1 | c.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 |
5 | g.90716694G>C | CA360397710 | ADGRV1 | c.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 | |
5 | g.90716694G>T | CA360397712 | ADGRV1 | c.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 |
5 | g.90716695G>A | CA360397714 | ADGRV1 | c.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 |
5 | g.90716695G>C | CA360397715 | ADGRV1 | c.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 | |
5 | g.90716695G= | CA1562870632 | ADGRV1 | c.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= | |
5 | g.90716695G>T | CA3340488 | ADGRV1 | c.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 |
5 | g.90716695_90716706dup | CA2674547022 | ADGRV1 | c.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 |
5 | g.90716696C>A | CA3340489 | ADGRV1 | c.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 |
5 | g.90716696C= | CA1562870633 | ADGRV1 | c.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= | |
5 | g.90716696C>G | CA3340490 | ADGRV1 | c.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 |
5 | g.90716696C>T | CA445413964 | ADGRV1 | c.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 | |
5 | g.90716697T>A | CA360397719 | ADGRV1 | c.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 | |
5 | g.90716697T>C | CA360397722 | ADGRV1 | c.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 |
5 | g.90716697T>G | CA360397720 | ADGRV1 | c.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 | |
5 | g.90716698A= | CA1562870634 | ADGRV1 | c.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= | |
5 | g.90716698A>C | CA360397724 | ADGRV1 | c.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 | |
5 | g.90716698A>G | CA360397725 | ADGRV1 | c.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 |
5 | g.90716698A>T | CA360397727 | ADGRV1 | c.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 | |
5 | g.90716698_90716699insAG | CA2767405872 | ADGRV1 | c.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 | |
5 | g.90716699T>A | CA360397729 | ADGRV1 | c.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 | |
5 | g.90716699T>C | CA445413973 | ADGRV1 | c.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 | |
5 | g.90716699T>G | CA360397731 | ADGRV1 | c.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 | |
5 | g.90716700A>C | CA360397732 | ADGRV1 | c.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 | |
5 | g.90716700A>G | CA360397734 | ADGRV1 | c.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 |
5 | g.90716700A>T | CA360397735 | ADGRV1 | c.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 | |
5 | g.90716701T>A | CA360397737 | ADGRV1 | c.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 | |
5 | g.90716701T>C | CA360397739 | ADGRV1 | c.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 | |
5 | g.90716701T>G | CA360397740 | ADGRV1 | c.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 | |
5 | g.90716702T>A | CA445413980 | ADGRV1 | c.9420T>A (p.Ile3140=) c.265+40493T>A (n.265+40493T>A) n.4879T>A c.3227T>A n.2564T>A c.4149T>A c.2117T>A n.9433T>A c.9417T>A (p.Ile3139=) c.9339T>A (p.Ile3113=) c.6723T>A (p.Ile2241=) n.272-893A>T c.9441T>A (p.Ile3147=) c.9438T>A (p.Ile3146=) c.9360T>A (p.Ile3120=) c.9345T>A (p.Ile3115=) c.2559T>A (p.Ile853=) c.2538T>A (p.Ile846=) n.2523-893A>T n.9436T>A | |
5 | g.90716702T>C | CA445413982 | ADGRV1 | c.9420T>C (p.Ile3140=) c.265+40493T>C (n.265+40493T>C) n.4879T>C c.3227T>C n.2564T>C c.4149T>C c.2117T>C n.9433T>C c.9417T>C (p.Ile3139=) c.9339T>C (p.Ile3113=) c.6723T>C (p.Ile2241=) n.272-893A>G c.9441T>C (p.Ile3147=) c.9438T>C (p.Ile3146=) c.9360T>C (p.Ile3120=) c.9345T>C (p.Ile3115=) c.2559T>C (p.Ile853=) c.2538T>C (p.Ile846=) n.2523-893A>G n.9436T>C | |
5 | g.90716702T>G | CA360397741 | ADGRV1 | c.9420T>G (p.Ile3140Met) c.265+40493T>G (n.265+40493T>G) n.4879T>G c.3227T>G n.2564T>G c.4149T>G c.2117T>G n.9433T>G c.9417T>G (p.Ile3139Met) c.9339T>G (p.Ile3113Met) c.6723T>G (p.Ile2241Met) n.272-893A>C c.9441T>G (p.Ile3147Met) c.9438T>G (p.Ile3146Met) c.9360T>G (p.Ile3120Met) c.9345T>G (p.Ile3115Met) c.2559T>G (p.Ile853Met) c.2538T>G (p.Ile846Met) n.2523-893A>C n.9436T>G |