| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90745059T>A | CA445415691 | ADGRV1 | c.10563T>A (p.Leu3521=) c.265+68850T>A (n.265+68850T>A) n.3707T>A n.982T>A c.3260T>A n.10576T>A c.10560T>A (p.Leu3520=) c.10482T>A (p.Leu3494=) c.7866T>A (p.Leu2622=) c.10584T>A (p.Leu3528=) c.10581T>A (p.Leu3527=) c.10503T>A (p.Leu3501=) c.10488T>A (p.Leu3496=) c.3702T>A (p.Leu1234=) c.3681T>A (p.Leu1227=) n.10579T>A | |
| 5 | g.90745059T>C | CA246318 | ADGRV1 | c.10563T>C (p.Leu3521=) c.265+68850T>C (n.265+68850T>C) n.3707T>C n.982T>C c.3260T>C n.10576T>C c.10560T>C (p.Leu3520=) c.10482T>C (p.Leu3494=) c.7866T>C (p.Leu2622=) c.10584T>C (p.Leu3528=) c.10581T>C (p.Leu3527=) c.10503T>C (p.Leu3501=) c.10488T>C (p.Leu3496=) c.3702T>C (p.Leu1234=) c.3681T>C (p.Leu1227=) n.10579T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90745059T>G | CA445415690 | ADGRV1 | c.10563T>G (p.Leu3521=) c.265+68850T>G (n.265+68850T>G) n.3707T>G n.982T>G c.3260T>G n.10576T>G c.10560T>G (p.Leu3520=) c.10482T>G (p.Leu3494=) c.7866T>G (p.Leu2622=) c.10584T>G (p.Leu3528=) c.10581T>G (p.Leu3527=) c.10503T>G (p.Leu3501=) c.10488T>G (p.Leu3496=) c.3702T>G (p.Leu1234=) c.3681T>G (p.Leu1227=) n.10579T>G | |
| 5 | g.90745059T= | CA1562881830 | ADGRV1 | c.10563T= (p.Leu3521=) c.265+68850T= (n.265+68850T=) n.3707T= n.982T= c.3260T= n.10576T= c.10560T= (p.Leu3520=) c.10482T= (p.Leu3494=) c.7866T= (p.Leu2622=) c.10584T= (p.Leu3528=) c.10581T= (p.Leu3527=) c.10503T= (p.Leu3501=) c.10488T= (p.Leu3496=) c.3702T= (p.Leu1234=) c.3681T= (p.Leu1227=) n.10579T= | |
| 5 | g.90745060_90745061dup | CA2573139994 | ADGRV1 | c.10564_10565dup (p.Gly3523LeufsTer?) c.265+68851_265+68852dup (n.265+68851_265+68852dup) n.3708_3709dup n.983_984dup c.3261_3262dup n.10577_10578dup c.10561_10562dup (p.Gly3522LeufsTer?) c.10483_10484dup (p.Gly3496LeufsTer?) c.7867_7868dup (p.Gly2624LeufsTer?) c.10585_10586dup (p.Gly3530LeufsTer?) c.10582_10583dup (p.Gly3529LeufsTer?) c.10504_10505dup (p.Gly3503LeufsTer?) c.10489_10490dup (p.Gly3498LeufsTer?) c.3703_3704dup (p.Gly1236LeufsTer?) c.3682_3683dup (p.Gly1229LeufsTer?) n.10580_10581dup | ClinVar dbSNP |
| 5 | g.90745060A= | CA1562881831 | ADGRV1 | c.10564A= (p.Ile3522=) c.265+68851A= (n.265+68851A=) n.3708A= n.983A= c.3261A= n.10577A= c.10561A= (p.Ile3521=) c.10483A= (p.Ile3495=) c.7867A= (p.Ile2623=) c.10585A= (p.Ile3529=) c.10582A= (p.Ile3528=) c.10504A= (p.Ile3502=) c.10489A= (p.Ile3497=) c.3703A= (p.Ile1235=) c.3682A= (p.Ile1228=) n.10580A= | |
| 5 | g.90745060A>C | CA360407465 | ADGRV1 | c.10564A>C (p.Ile3522Leu) c.265+68851A>C (n.265+68851A>C) n.3708A>C n.983A>C c.3261A>C n.10577A>C c.10561A>C (p.Ile3521Leu) c.10483A>C (p.Ile3495Leu) c.7867A>C (p.Ile2623Leu) c.10585A>C (p.Ile3529Leu) c.10582A>C (p.Ile3528Leu) c.10504A>C (p.Ile3502Leu) c.10489A>C (p.Ile3497Leu) c.3703A>C (p.Ile1235Leu) c.3682A>C (p.Ile1228Leu) n.10580A>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90745060A>G | CA360407469 | ADGRV1 | c.10564A>G (p.Ile3522Val) c.265+68851A>G (n.265+68851A>G) n.3708A>G n.983A>G c.3261A>G n.10577A>G c.10561A>G (p.Ile3521Val) c.10483A>G (p.Ile3495Val) c.7867A>G (p.Ile2623Val) c.10585A>G (p.Ile3529Val) c.10582A>G (p.Ile3528Val) c.10504A>G (p.Ile3502Val) c.10489A>G (p.Ile3497Val) c.3703A>G (p.Ile1235Val) c.3682A>G (p.Ile1228Val) n.10580A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.90745060A>T | CA360407467 | ADGRV1 | c.10564A>T (p.Ile3522Phe) c.265+68851A>T (n.265+68851A>T) n.3708A>T n.983A>T c.3261A>T n.10577A>T c.10561A>T (p.Ile3521Phe) c.10483A>T (p.Ile3495Phe) c.7867A>T (p.Ile2623Phe) c.10585A>T (p.Ile3529Phe) c.10582A>T (p.Ile3528Phe) c.10504A>T (p.Ile3502Phe) c.10489A>T (p.Ile3497Phe) c.3703A>T (p.Ile1235Phe) c.3682A>T (p.Ile1228Phe) n.10580A>T | |
| 5 | g.90745061T>A | CA360407470 | ADGRV1 | c.10565T>A (p.Ile3522Asn) c.265+68852T>A (n.265+68852T>A) n.3709T>A n.984T>A c.3262T>A n.10578T>A c.10562T>A (p.Ile3521Asn) c.10484T>A (p.Ile3495Asn) c.7868T>A (p.Ile2623Asn) c.10586T>A (p.Ile3529Asn) c.10583T>A (p.Ile3528Asn) c.10505T>A (p.Ile3502Asn) c.10490T>A (p.Ile3497Asn) c.3704T>A (p.Ile1235Asn) c.3683T>A (p.Ile1228Asn) n.10581T>A | |
| 5 | g.90745061T>C | CA360407472 | ADGRV1 | c.10565T>C (p.Ile3522Thr) c.265+68852T>C (n.265+68852T>C) n.3709T>C n.984T>C c.3262T>C n.10578T>C c.10562T>C (p.Ile3521Thr) c.10484T>C (p.Ile3495Thr) c.7868T>C (p.Ile2623Thr) c.10586T>C (p.Ile3529Thr) c.10583T>C (p.Ile3528Thr) c.10505T>C (p.Ile3502Thr) c.10490T>C (p.Ile3497Thr) c.3704T>C (p.Ile1235Thr) c.3683T>C (p.Ile1228Thr) n.10581T>C | |
| 5 | g.90745061T>G | CA360407474 | ADGRV1 | c.10565T>G (p.Ile3522Ser) c.265+68852T>G (n.265+68852T>G) n.3709T>G n.984T>G c.3262T>G n.10578T>G c.10562T>G (p.Ile3521Ser) c.10484T>G (p.Ile3495Ser) c.7868T>G (p.Ile2623Ser) c.10586T>G (p.Ile3529Ser) c.10583T>G (p.Ile3528Ser) c.10505T>G (p.Ile3502Ser) c.10490T>G (p.Ile3497Ser) c.3704T>G (p.Ile1235Ser) c.3683T>G (p.Ile1228Ser) n.10581T>G | |
| 5 | g.90745062T>A | CA445415694 | ADGRV1 | c.10566T>A (p.Ile3522=) c.265+68853T>A (n.265+68853T>A) n.3710T>A n.985T>A c.3263T>A n.10579T>A c.10563T>A (p.Ile3521=) c.10485T>A (p.Ile3495=) c.7869T>A (p.Ile2623=) c.10587T>A (p.Ile3529=) c.10584T>A (p.Ile3528=) c.10506T>A (p.Ile3502=) c.10491T>A (p.Ile3497=) c.3705T>A (p.Ile1235=) c.3684T>A (p.Ile1228=) n.10582T>A | |
| 5 | g.90745062T>C | CA445415695 | ADGRV1 | c.10566T>C (p.Ile3522=) c.265+68853T>C (n.265+68853T>C) n.3710T>C n.985T>C c.3263T>C n.10579T>C c.10563T>C (p.Ile3521=) c.10485T>C (p.Ile3495=) c.7869T>C (p.Ile2623=) c.10587T>C (p.Ile3529=) c.10584T>C (p.Ile3528=) c.10506T>C (p.Ile3502=) c.10491T>C (p.Ile3497=) c.3705T>C (p.Ile1235=) c.3684T>C (p.Ile1228=) n.10582T>C | |
| 5 | g.90745062T>G | CA360407477 | ADGRV1 | c.10566T>G (p.Ile3522Met) c.265+68853T>G (n.265+68853T>G) n.3710T>G n.985T>G c.3263T>G n.10579T>G c.10563T>G (p.Ile3521Met) c.10485T>G (p.Ile3495Met) c.7869T>G (p.Ile2623Met) c.10587T>G (p.Ile3529Met) c.10584T>G (p.Ile3528Met) c.10506T>G (p.Ile3502Met) c.10491T>G (p.Ile3497Met) c.3705T>G (p.Ile1235Met) c.3684T>G (p.Ile1228Met) n.10582T>G | |
| 5 | g.90745063G>A | CA360407480 | ADGRV1 | c.10567G>A (p.Gly3523Ser) c.265+68854G>A (n.265+68854G>A) n.3711G>A n.986G>A c.3264G>A n.10580G>A c.10564G>A (p.Gly3522Ser) c.10486G>A (p.Gly3496Ser) c.7870G>A (p.Gly2624Ser) c.10588G>A (p.Gly3530Ser) c.10585G>A (p.Gly3529Ser) c.10507G>A (p.Gly3503Ser) c.10492G>A (p.Gly3498Ser) c.3706G>A (p.Gly1236Ser) c.3685G>A (p.Gly1229Ser) n.10583G>A | |
| 5 | g.90745063G>C | CA360407481 | ADGRV1 | c.10567G>C (p.Gly3523Arg) c.265+68854G>C (n.265+68854G>C) n.3711G>C n.986G>C c.3264G>C n.10580G>C c.10564G>C (p.Gly3522Arg) c.10486G>C (p.Gly3496Arg) c.7870G>C (p.Gly2624Arg) c.10588G>C (p.Gly3530Arg) c.10585G>C (p.Gly3529Arg) c.10507G>C (p.Gly3503Arg) c.10492G>C (p.Gly3498Arg) c.3706G>C (p.Gly1236Arg) c.3685G>C (p.Gly1229Arg) n.10583G>C | |
| 5 | g.90745063G>T | CA360407485 | ADGRV1 | c.10567G>T (p.Gly3523Cys) c.265+68854G>T (n.265+68854G>T) n.3711G>T n.986G>T c.3264G>T n.10580G>T c.10564G>T (p.Gly3522Cys) c.10486G>T (p.Gly3496Cys) c.7870G>T (p.Gly2624Cys) c.10588G>T (p.Gly3530Cys) c.10585G>T (p.Gly3529Cys) c.10507G>T (p.Gly3503Cys) c.10492G>T (p.Gly3498Cys) c.3706G>T (p.Gly1236Cys) c.3685G>T (p.Gly1229Cys) n.10583G>T | |
| 5 | g.90745064G>A | CA360407488 | ADGRV1 | c.10568G>A (p.Gly3523Asp) c.265+68855G>A (n.265+68855G>A) n.3712G>A n.987G>A c.3265G>A n.10581G>A c.10565G>A (p.Gly3522Asp) c.10487G>A (p.Gly3496Asp) c.7871G>A (p.Gly2624Asp) c.10589G>A (p.Gly3530Asp) c.10586G>A (p.Gly3529Asp) c.10508G>A (p.Gly3503Asp) c.10493G>A (p.Gly3498Asp) c.3707G>A (p.Gly1236Asp) c.3686G>A (p.Gly1229Asp) n.10584G>A | gnomAD v4 |
| 5 | g.90745064G>C | CA360407491 | ADGRV1 | c.10568G>C (p.Gly3523Ala) c.265+68855G>C (n.265+68855G>C) n.3712G>C n.987G>C c.3265G>C n.10581G>C c.10565G>C (p.Gly3522Ala) c.10487G>C (p.Gly3496Ala) c.7871G>C (p.Gly2624Ala) c.10589G>C (p.Gly3530Ala) c.10586G>C (p.Gly3529Ala) c.10508G>C (p.Gly3503Ala) c.10493G>C (p.Gly3498Ala) c.3707G>C (p.Gly1236Ala) c.3686G>C (p.Gly1229Ala) n.10584G>C | |
| 5 | g.90745064G>T | CA360407494 | ADGRV1 | c.10568G>T (p.Gly3523Val) c.265+68855G>T (n.265+68855G>T) n.3712G>T n.987G>T c.3265G>T n.10581G>T c.10565G>T (p.Gly3522Val) c.10487G>T (p.Gly3496Val) c.7871G>T (p.Gly2624Val) c.10589G>T (p.Gly3530Val) c.10586G>T (p.Gly3529Val) c.10508G>T (p.Gly3503Val) c.10493G>T (p.Gly3498Val) c.3707G>T (p.Gly1236Val) c.3686G>T (p.Gly1229Val) n.10584G>T | |
| 5 | g.90745065C>A | CA445415700 | ADGRV1 | c.10569C>A (p.Gly3523=) c.265+68856C>A (n.265+68856C>A) n.3713C>A n.988C>A c.3266C>A n.10582C>A c.10566C>A (p.Gly3522=) c.10488C>A (p.Gly3496=) c.7872C>A (p.Gly2624=) c.10590C>A (p.Gly3530=) c.10587C>A (p.Gly3529=) c.10509C>A (p.Gly3503=) c.10494C>A (p.Gly3498=) c.3708C>A (p.Gly1236=) c.3687C>A (p.Gly1229=) n.10585C>A | |
| 5 | g.90745065C>G | CA445415702 | ADGRV1 | c.10569C>G (p.Gly3523=) c.265+68856C>G (n.265+68856C>G) n.3713C>G n.988C>G c.3266C>G n.10582C>G c.10566C>G (p.Gly3522=) c.10488C>G (p.Gly3496=) c.7872C>G (p.Gly2624=) c.10590C>G (p.Gly3530=) c.10587C>G (p.Gly3529=) c.10509C>G (p.Gly3503=) c.10494C>G (p.Gly3498=) c.3708C>G (p.Gly1236=) c.3687C>G (p.Gly1229=) n.10585C>G | |
| 5 | g.90745065C>T | CA445415701 | ADGRV1 | c.10569C>T (p.Gly3523=) c.265+68856C>T (n.265+68856C>T) n.3713C>T n.988C>T c.3266C>T n.10582C>T c.10566C>T (p.Gly3522=) c.10488C>T (p.Gly3496=) c.7872C>T (p.Gly2624=) c.10590C>T (p.Gly3530=) c.10587C>T (p.Gly3529=) c.10509C>T (p.Gly3503=) c.10494C>T (p.Gly3498=) c.3708C>T (p.Gly1236=) c.3687C>T (p.Gly1229=) n.10585C>T | |
| 5 | g.90745066C>A | CA3340789 | ADGRV1 | c.10570C>A (p.Gln3524Lys) c.265+68857C>A (n.265+68857C>A) n.3714C>A n.989C>A c.3267C>A n.10583C>A c.10567C>A (p.Gln3523Lys) c.10489C>A (p.Gln3497Lys) c.7873C>A (p.Gln2625Lys) c.10591C>A (p.Gln3531Lys) c.10588C>A (p.Gln3530Lys) c.10510C>A (p.Gln3504Lys) c.10495C>A (p.Gln3499Lys) c.3709C>A (p.Gln1237Lys) c.3688C>A (p.Gln1230Lys) n.10586C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90745066C= | CA1562881832 | ADGRV1 | c.10570C= (p.Gln3524=) c.265+68857C= (n.265+68857C=) n.3714C= n.989C= c.3267C= n.10583C= c.10567C= (p.Gln3523=) c.10489C= (p.Gln3497=) c.7873C= (p.Gln2625=) c.10591C= (p.Gln3531=) c.10588C= (p.Gln3530=) c.10510C= (p.Gln3504=) c.10495C= (p.Gln3499=) c.3709C= (p.Gln1237=) c.3688C= (p.Gln1230=) n.10586C= | |
| 5 | g.90745066C>G | CA360407500 | ADGRV1 | c.10570C>G (p.Gln3524Glu) c.265+68857C>G (n.265+68857C>G) n.3714C>G n.989C>G c.3267C>G n.10583C>G c.10567C>G (p.Gln3523Glu) c.10489C>G (p.Gln3497Glu) c.7873C>G (p.Gln2625Glu) c.10591C>G (p.Gln3531Glu) c.10588C>G (p.Gln3530Glu) c.10510C>G (p.Gln3504Glu) c.10495C>G (p.Gln3499Glu) c.3709C>G (p.Gln1237Glu) c.3688C>G (p.Gln1230Glu) n.10586C>G | |
| 5 | g.90745066C>T | CA360407497 | ADGRV1 | c.10570C>T (p.Gln3524Ter) c.265+68857C>T (n.265+68857C>T) n.3714C>T n.989C>T c.3267C>T n.10583C>T c.10567C>T (p.Gln3523Ter) c.10489C>T (p.Gln3497Ter) c.7873C>T (p.Gln2625Ter) c.10591C>T (p.Gln3531Ter) c.10588C>T (p.Gln3530Ter) c.10510C>T (p.Gln3504Ter) c.10495C>T (p.Gln3499Ter) c.3709C>T (p.Gln1237Ter) c.3688C>T (p.Gln1230Ter) n.10586C>T | |
| 5 | g.90745067A= | CA1562881833 | ADGRV1 | c.10571A= (p.Gln3524=) c.265+68858A= (n.265+68858A=) n.3715A= n.990A= c.3268A= n.10584A= c.10568A= (p.Gln3523=) c.10490A= (p.Gln3497=) c.7874A= (p.Gln2625=) c.10592A= (p.Gln3531=) c.10589A= (p.Gln3530=) c.10511A= (p.Gln3504=) c.10496A= (p.Gln3499=) c.3710A= (p.Gln1237=) c.3689A= (p.Gln1230=) n.10587A= | |
| 5 | g.90745067A>C | CA360407507 | ADGRV1 | c.10571A>C (p.Gln3524Pro) c.265+68858A>C (n.265+68858A>C) n.3715A>C n.990A>C c.3268A>C n.10584A>C c.10568A>C (p.Gln3523Pro) c.10490A>C (p.Gln3497Pro) c.7874A>C (p.Gln2625Pro) c.10592A>C (p.Gln3531Pro) c.10589A>C (p.Gln3530Pro) c.10511A>C (p.Gln3504Pro) c.10496A>C (p.Gln3499Pro) c.3710A>C (p.Gln1237Pro) c.3689A>C (p.Gln1230Pro) n.10587A>C | |
| 5 | g.90745067A>G | CA360407509 | ADGRV1 | c.10571A>G (p.Gln3524Arg) c.265+68858A>G (n.265+68858A>G) n.3715A>G n.990A>G c.3268A>G n.10584A>G c.10568A>G (p.Gln3523Arg) c.10490A>G (p.Gln3497Arg) c.7874A>G (p.Gln2625Arg) c.10592A>G (p.Gln3531Arg) c.10589A>G (p.Gln3530Arg) c.10511A>G (p.Gln3504Arg) c.10496A>G (p.Gln3499Arg) c.3710A>G (p.Gln1237Arg) c.3689A>G (p.Gln1230Arg) n.10587A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90745067A>T | CA360407510 | ADGRV1 | c.10571A>T (p.Gln3524Leu) c.265+68858A>T (n.265+68858A>T) n.3715A>T n.990A>T c.3268A>T n.10584A>T c.10568A>T (p.Gln3523Leu) c.10490A>T (p.Gln3497Leu) c.7874A>T (p.Gln2625Leu) c.10592A>T (p.Gln3531Leu) c.10589A>T (p.Gln3530Leu) c.10511A>T (p.Gln3504Leu) c.10496A>T (p.Gln3499Leu) c.3710A>T (p.Gln1237Leu) c.3689A>T (p.Gln1230Leu) n.10587A>T | |
| 5 | g.90745068A>C | CA360407512 | ADGRV1 | c.10572A>C (p.Gln3524His) c.265+68859A>C (n.265+68859A>C) n.3716A>C n.991A>C c.3269A>C n.10585A>C c.10569A>C (p.Gln3523His) c.10491A>C (p.Gln3497His) c.7875A>C (p.Gln2625His) c.10593A>C (p.Gln3531His) c.10590A>C (p.Gln3530His) c.10512A>C (p.Gln3504His) c.10497A>C (p.Gln3499His) c.3711A>C (p.Gln1237His) c.3690A>C (p.Gln1230His) n.10588A>C | |
| 5 | g.90745068A>G | CA445415705 | ADGRV1 | c.10572A>G (p.Gln3524=) c.265+68859A>G (n.265+68859A>G) n.3716A>G n.991A>G c.3269A>G n.10585A>G c.10569A>G (p.Gln3523=) c.10491A>G (p.Gln3497=) c.7875A>G (p.Gln2625=) c.10593A>G (p.Gln3531=) c.10590A>G (p.Gln3530=) c.10512A>G (p.Gln3504=) c.10497A>G (p.Gln3499=) c.3711A>G (p.Gln1237=) c.3690A>G (p.Gln1230=) n.10588A>G | gnomAD v4 |
| 5 | g.90745068A>T | CA360407515 | ADGRV1 | c.10572A>T (p.Gln3524His) c.265+68859A>T (n.265+68859A>T) n.3716A>T n.991A>T c.3269A>T n.10585A>T c.10569A>T (p.Gln3523His) c.10491A>T (p.Gln3497His) c.7875A>T (p.Gln2625His) c.10593A>T (p.Gln3531His) c.10590A>T (p.Gln3530His) c.10512A>T (p.Gln3504His) c.10497A>T (p.Gln3499His) c.3711A>T (p.Gln1237His) c.3690A>T (p.Gln1230His) n.10588A>T | |
| 5 | g.90745069G>A | CA360407520 | ADGRV1 | c.10573G>A (p.Asp3525Asn) c.265+68860G>A (n.265+68860G>A) n.3717G>A n.992G>A c.3270G>A n.10586G>A c.10570G>A (p.Asp3524Asn) c.10492G>A (p.Asp3498Asn) c.7876G>A (p.Asp2626Asn) c.10594G>A (p.Asp3532Asn) c.10591G>A (p.Asp3531Asn) c.10513G>A (p.Asp3505Asn) c.10498G>A (p.Asp3500Asn) c.3712G>A (p.Asp1238Asn) c.3691G>A (p.Asp1231Asn) n.10589G>A | |
| 5 | g.90745069G>C | CA360407522 | ADGRV1 | c.10573G>C (p.Asp3525His) c.265+68860G>C (n.265+68860G>C) n.3717G>C n.992G>C c.3270G>C n.10586G>C c.10570G>C (p.Asp3524His) c.10492G>C (p.Asp3498His) c.7876G>C (p.Asp2626His) c.10594G>C (p.Asp3532His) c.10591G>C (p.Asp3531His) c.10513G>C (p.Asp3505His) c.10498G>C (p.Asp3500His) c.3712G>C (p.Asp1238His) c.3691G>C (p.Asp1231His) n.10589G>C | |
| 5 | g.90745069G>T | CA360407526 | ADGRV1 | c.10573G>T (p.Asp3525Tyr) c.265+68860G>T (n.265+68860G>T) n.3717G>T n.992G>T c.3270G>T n.10586G>T c.10570G>T (p.Asp3524Tyr) c.10492G>T (p.Asp3498Tyr) c.7876G>T (p.Asp2626Tyr) c.10594G>T (p.Asp3532Tyr) c.10591G>T (p.Asp3531Tyr) c.10513G>T (p.Asp3505Tyr) c.10498G>T (p.Asp3500Tyr) c.3712G>T (p.Asp1238Tyr) c.3691G>T (p.Asp1231Tyr) n.10589G>T | |
| 5 | g.90745070A= | CA1562881834 | ADGRV1 | c.10574A= (p.Asp3525=) c.265+68861A= (n.265+68861A=) n.3718A= n.993A= c.3271A= n.10587A= c.10571A= (p.Asp3524=) c.10493A= (p.Asp3498=) c.7877A= (p.Asp2626=) c.10595A= (p.Asp3532=) c.10592A= (p.Asp3531=) c.10514A= (p.Asp3505=) c.10499A= (p.Asp3500=) c.3713A= (p.Asp1238=) c.3692A= (p.Asp1231=) n.10590A= | |
| 5 | g.90745070A>C | CA360407529 | ADGRV1 | c.10574A>C (p.Asp3525Ala) c.265+68861A>C (n.265+68861A>C) n.3718A>C n.993A>C c.3271A>C n.10587A>C c.10571A>C (p.Asp3524Ala) c.10493A>C (p.Asp3498Ala) c.7877A>C (p.Asp2626Ala) c.10595A>C (p.Asp3532Ala) c.10592A>C (p.Asp3531Ala) c.10514A>C (p.Asp3505Ala) c.10499A>C (p.Asp3500Ala) c.3713A>C (p.Asp1238Ala) c.3692A>C (p.Asp1231Ala) n.10590A>C | |
| 5 | g.90745070A>G | CA360407530 | ADGRV1 | c.10574A>G (p.Asp3525Gly) c.265+68861A>G (n.265+68861A>G) n.3718A>G n.993A>G c.3271A>G n.10587A>G c.10571A>G (p.Asp3524Gly) c.10493A>G (p.Asp3498Gly) c.7877A>G (p.Asp2626Gly) c.10595A>G (p.Asp3532Gly) c.10592A>G (p.Asp3531Gly) c.10514A>G (p.Asp3505Gly) c.10499A>G (p.Asp3500Gly) c.3713A>G (p.Asp1238Gly) c.3692A>G (p.Asp1231Gly) n.10590A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90745070A>T | CA360407531 | ADGRV1 | c.10574A>T (p.Asp3525Val) c.265+68861A>T (n.265+68861A>T) n.3718A>T n.993A>T c.3271A>T n.10587A>T c.10571A>T (p.Asp3524Val) c.10493A>T (p.Asp3498Val) c.7877A>T (p.Asp2626Val) c.10595A>T (p.Asp3532Val) c.10592A>T (p.Asp3531Val) c.10514A>T (p.Asp3505Val) c.10499A>T (p.Asp3500Val) c.3713A>T (p.Asp1238Val) c.3692A>T (p.Asp1231Val) n.10590A>T | |
| 5 | g.90745071T>A | CA360407532 | ADGRV1 | c.10575T>A (p.Asp3525Glu) c.265+68862T>A (n.265+68862T>A) n.3719T>A n.994T>A c.3272T>A n.10588T>A c.10572T>A (p.Asp3524Glu) c.10494T>A (p.Asp3498Glu) c.7878T>A (p.Asp2626Glu) c.10596T>A (p.Asp3532Glu) c.10593T>A (p.Asp3531Glu) c.10515T>A (p.Asp3505Glu) c.10500T>A (p.Asp3500Glu) c.3714T>A (p.Asp1238Glu) c.3693T>A (p.Asp1231Glu) n.10591T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90745071T>C | CA445415714 | ADGRV1 | c.10575T>C (p.Asp3525=) c.265+68862T>C (n.265+68862T>C) n.3719T>C n.994T>C c.3272T>C n.10588T>C c.10572T>C (p.Asp3524=) c.10494T>C (p.Asp3498=) c.7878T>C (p.Asp2626=) c.10596T>C (p.Asp3532=) c.10593T>C (p.Asp3531=) c.10515T>C (p.Asp3505=) c.10500T>C (p.Asp3500=) c.3714T>C (p.Asp1238=) c.3693T>C (p.Asp1231=) n.10591T>C | |
| 5 | g.90745071T>G | CA360407533 | ADGRV1 | c.10575T>G (p.Asp3525Glu) c.265+68862T>G (n.265+68862T>G) n.3719T>G n.994T>G c.3272T>G n.10588T>G c.10572T>G (p.Asp3524Glu) c.10494T>G (p.Asp3498Glu) c.7878T>G (p.Asp2626Glu) c.10596T>G (p.Asp3532Glu) c.10593T>G (p.Asp3531Glu) c.10515T>G (p.Asp3505Glu) c.10500T>G (p.Asp3500Glu) c.3714T>G (p.Asp1238Glu) c.3693T>G (p.Asp1231Glu) n.10591T>G | |
| 5 | g.90745071T= | CA1562881835 | ADGRV1 | c.10575T= (p.Asp3525=) c.265+68862T= (n.265+68862T=) n.3719T= n.994T= c.3272T= n.10588T= c.10572T= (p.Asp3524=) c.10494T= (p.Asp3498=) c.7878T= (p.Asp2626=) c.10596T= (p.Asp3532=) c.10593T= (p.Asp3531=) c.10515T= (p.Asp3505=) c.10500T= (p.Asp3500=) c.3714T= (p.Asp1238=) c.3693T= (p.Asp1231=) n.10591T= | |
| 5 | g.90745072A>C | CA360407541 | ADGRV1 | c.10576A>C (p.Met3526Leu) c.265+68863A>C (n.265+68863A>C) n.3720A>C n.995A>C c.3273A>C n.10589A>C c.10573A>C (p.Met3525Leu) c.10495A>C (p.Met3499Leu) c.7879A>C (p.Met2627Leu) c.10597A>C (p.Met3533Leu) c.10594A>C (p.Met3532Leu) c.10516A>C (p.Met3506Leu) c.10501A>C (p.Met3501Leu) c.3715A>C (p.Met1239Leu) c.3694A>C (p.Met1232Leu) n.10592A>C | |
| 5 | g.90745072A>G | CA360407535 | ADGRV1 | c.10576A>G (p.Met3526Val) c.265+68863A>G (n.265+68863A>G) n.3720A>G n.995A>G c.3273A>G n.10589A>G c.10573A>G (p.Met3525Val) c.10495A>G (p.Met3499Val) c.7879A>G (p.Met2627Val) c.10597A>G (p.Met3533Val) c.10594A>G (p.Met3532Val) c.10516A>G (p.Met3506Val) c.10501A>G (p.Met3501Val) c.3715A>G (p.Met1239Val) c.3694A>G (p.Met1232Val) n.10592A>G | gnomAD v4 |
| 5 | g.90745072A>T | CA360407538 | ADGRV1 | c.10576A>T (p.Met3526Leu) c.265+68863A>T (n.265+68863A>T) n.3720A>T n.995A>T c.3273A>T n.10589A>T c.10573A>T (p.Met3525Leu) c.10495A>T (p.Met3499Leu) c.7879A>T (p.Met2627Leu) c.10597A>T (p.Met3533Leu) c.10594A>T (p.Met3532Leu) c.10516A>T (p.Met3506Leu) c.10501A>T (p.Met3501Leu) c.3715A>T (p.Met1239Leu) c.3694A>T (p.Met1232Leu) n.10592A>T | |
| 5 | g.90745073T>A | CA360407544 | ADGRV1 | c.10577T>A (p.Met3526Lys) c.265+68864T>A (n.265+68864T>A) n.3721T>A n.996T>A c.3274T>A n.10590T>A c.10574T>A (p.Met3525Lys) c.10496T>A (p.Met3499Lys) c.7880T>A (p.Met2627Lys) c.10598T>A (p.Met3533Lys) c.10595T>A (p.Met3532Lys) c.10517T>A (p.Met3506Lys) c.10502T>A (p.Met3501Lys) c.3716T>A (p.Met1239Lys) c.3695T>A (p.Met1232Lys) n.10593T>A | gnomAD v4 |