Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90724855G>A | CA245786 | ADGRV1 | c.9772G>A (p.Val3258Ile) c.265+48646G>A (n.265+48646G>A) n.2916G>A n.191G>A c.4501G>A c.2469G>A n.9785G>A c.9769G>A (p.Val3257Ile) c.9691G>A (p.Val3231Ile) c.7075G>A (p.Val2359Ile) n.272-9046C>T c.9793G>A (p.Val3265Ile) c.9790G>A (p.Val3264Ile) c.9712G>A (p.Val3238Ile) c.9697G>A (p.Val3233Ile) c.2911G>A (p.Val971Ile) c.2890G>A (p.Val964Ile) n.2523-9046C>T n.9788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90724855G>C | CA360402493 | ADGRV1 | c.9772G>C (p.Val3258Leu) c.265+48646G>C (n.265+48646G>C) n.2916G>C n.191G>C c.4501G>C c.2469G>C n.9785G>C c.9769G>C (p.Val3257Leu) c.9691G>C (p.Val3231Leu) c.7075G>C (p.Val2359Leu) n.272-9046C>G c.9793G>C (p.Val3265Leu) c.9790G>C (p.Val3264Leu) c.9712G>C (p.Val3238Leu) c.9697G>C (p.Val3233Leu) c.2911G>C (p.Val971Leu) c.2890G>C (p.Val964Leu) n.2523-9046C>G n.9788G>C | |
5 | g.90724855G= | CA1562873262 | ADGRV1 | c.9772G= (p.Val3258=) c.265+48646G= (n.265+48646G=) n.2916G= n.191G= c.4501G= c.2469G= n.9785G= c.9769G= (p.Val3257=) c.9691G= (p.Val3231=) c.7075G= (p.Val2359=) n.272-9046C= c.9793G= (p.Val3265=) c.9790G= (p.Val3264=) c.9712G= (p.Val3238=) c.9697G= (p.Val3233=) c.2911G= (p.Val971=) c.2890G= (p.Val964=) n.2523-9046C= n.9788G= | |
5 | g.90724855G>T | CA360402494 | ADGRV1 | c.9772G>T (p.Val3258Leu) c.265+48646G>T (n.265+48646G>T) n.2916G>T n.191G>T c.4501G>T c.2469G>T n.9785G>T c.9769G>T (p.Val3257Leu) c.9691G>T (p.Val3231Leu) c.7075G>T (p.Val2359Leu) n.272-9046C>A c.9793G>T (p.Val3265Leu) c.9790G>T (p.Val3264Leu) c.9712G>T (p.Val3238Leu) c.9697G>T (p.Val3233Leu) c.2911G>T (p.Val971Leu) c.2890G>T (p.Val964Leu) n.2523-9046C>A n.9788G>T | |
5 | g.90724856T>A | CA360402495 | ADGRV1 | c.9773T>A (p.Val3258Glu) c.265+48647T>A (n.265+48647T>A) n.2917T>A n.192T>A c.4502T>A c.2470T>A n.9786T>A c.9770T>A (p.Val3257Glu) c.9692T>A (p.Val3231Glu) c.7076T>A (p.Val2359Glu) n.272-9047A>T c.9794T>A (p.Val3265Glu) c.9791T>A (p.Val3264Glu) c.9713T>A (p.Val3238Glu) c.9698T>A (p.Val3233Glu) c.2912T>A (p.Val971Glu) c.2891T>A (p.Val964Glu) n.2523-9047A>T n.9789T>A | |
5 | g.90724856T>C | CA360402497 | ADGRV1 | c.9773T>C (p.Val3258Ala) c.265+48647T>C (n.265+48647T>C) n.2917T>C n.192T>C c.4502T>C c.2470T>C n.9786T>C c.9770T>C (p.Val3257Ala) c.9692T>C (p.Val3231Ala) c.7076T>C (p.Val2359Ala) n.272-9047A>G c.9794T>C (p.Val3265Ala) c.9791T>C (p.Val3264Ala) c.9713T>C (p.Val3238Ala) c.9698T>C (p.Val3233Ala) c.2912T>C (p.Val971Ala) c.2891T>C (p.Val964Ala) n.2523-9047A>G n.9789T>C | gnomAD v4 |
5 | g.90724856T>G | CA360402496 | ADGRV1 | c.9773T>G (p.Val3258Gly) c.265+48647T>G (n.265+48647T>G) n.2917T>G n.192T>G c.4502T>G c.2470T>G n.9786T>G c.9770T>G (p.Val3257Gly) c.9692T>G (p.Val3231Gly) c.7076T>G (p.Val2359Gly) n.272-9047A>C c.9794T>G (p.Val3265Gly) c.9791T>G (p.Val3264Gly) c.9713T>G (p.Val3238Gly) c.9698T>G (p.Val3233Gly) c.2912T>G (p.Val971Gly) c.2891T>G (p.Val964Gly) n.2523-9047A>C n.9789T>G | |
5 | g.90724857A>C | CA445468171 | ADGRV1 | c.9774A>C (p.Val3258=) c.265+48648A>C (n.265+48648A>C) n.2918A>C n.193A>C c.4503A>C c.2471A>C n.9787A>C c.9771A>C (p.Val3257=) c.9693A>C (p.Val3231=) c.7077A>C (p.Val2359=) n.272-9048T>G c.9795A>C (p.Val3265=) c.9792A>C (p.Val3264=) c.9714A>C (p.Val3238=) c.9699A>C (p.Val3233=) c.2913A>C (p.Val971=) c.2892A>C (p.Val964=) n.2523-9048T>G n.9790A>C | |
5 | g.90724857A>G | CA445468173 | ADGRV1 | c.9774A>G (p.Val3258=) c.265+48648A>G (n.265+48648A>G) n.2918A>G n.193A>G c.4503A>G c.2471A>G n.9787A>G c.9771A>G (p.Val3257=) c.9693A>G (p.Val3231=) c.7077A>G (p.Val2359=) n.272-9048T>C c.9795A>G (p.Val3265=) c.9792A>G (p.Val3264=) c.9714A>G (p.Val3238=) c.9699A>G (p.Val3233=) c.2913A>G (p.Val971=) c.2892A>G (p.Val964=) n.2523-9048T>C n.9790A>G | |
5 | g.90724857A>T | CA445468172 | ADGRV1 | c.9774A>T (p.Val3258=) c.265+48648A>T (n.265+48648A>T) n.2918A>T n.193A>T c.4503A>T c.2471A>T n.9787A>T c.9771A>T (p.Val3257=) c.9693A>T (p.Val3231=) c.7077A>T (p.Val2359=) n.272-9048T>A c.9795A>T (p.Val3265=) c.9792A>T (p.Val3264=) c.9714A>T (p.Val3238=) c.9699A>T (p.Val3233=) c.2913A>T (p.Val971=) c.2892A>T (p.Val964=) n.2523-9048T>A n.9790A>T | |
5 | g.90724858T>A | CA360402498 | ADGRV1 | c.9775T>A (p.Phe3259Ile) c.265+48649T>A (n.265+48649T>A) n.2919T>A n.194T>A c.4504T>A c.2472T>A n.9788T>A c.9772T>A (p.Phe3258Ile) c.9694T>A (p.Phe3232Ile) c.7078T>A (p.Phe2360Ile) n.272-9049A>T c.9796T>A (p.Phe3266Ile) c.9793T>A (p.Phe3265Ile) c.9715T>A (p.Phe3239Ile) c.9700T>A (p.Phe3234Ile) c.2914T>A (p.Phe972Ile) c.2893T>A (p.Phe965Ile) n.2523-9049A>T n.9791T>A | |
5 | g.90724858T>C | CA360402499 | ADGRV1 | c.9775T>C (p.Phe3259Leu) c.265+48649T>C (n.265+48649T>C) n.2919T>C n.194T>C c.4504T>C c.2472T>C n.9788T>C c.9772T>C (p.Phe3258Leu) c.9694T>C (p.Phe3232Leu) c.7078T>C (p.Phe2360Leu) n.272-9049A>G c.9796T>C (p.Phe3266Leu) c.9793T>C (p.Phe3265Leu) c.9715T>C (p.Phe3239Leu) c.9700T>C (p.Phe3234Leu) c.2914T>C (p.Phe972Leu) c.2893T>C (p.Phe965Leu) n.2523-9049A>G n.9791T>C | |
5 | g.90724858T>G | CA360402500 | ADGRV1 | c.9775T>G (p.Phe3259Val) c.265+48649T>G (n.265+48649T>G) n.2919T>G n.194T>G c.4504T>G c.2472T>G n.9788T>G c.9772T>G (p.Phe3258Val) c.9694T>G (p.Phe3232Val) c.7078T>G (p.Phe2360Val) n.272-9049A>C c.9796T>G (p.Phe3266Val) c.9793T>G (p.Phe3265Val) c.9715T>G (p.Phe3239Val) c.9700T>G (p.Phe3234Val) c.2914T>G (p.Phe972Val) c.2893T>G (p.Phe965Val) n.2523-9049A>C n.9791T>G | |
5 | g.90724859T>A | CA360402501 | ADGRV1 | c.9776T>A (p.Phe3259Tyr) c.265+48650T>A (n.265+48650T>A) n.2920T>A n.195T>A c.4505T>A c.2473T>A n.9789T>A c.9773T>A (p.Phe3258Tyr) c.9695T>A (p.Phe3232Tyr) c.7079T>A (p.Phe2360Tyr) n.272-9050A>T c.9797T>A (p.Phe3266Tyr) c.9794T>A (p.Phe3265Tyr) c.9716T>A (p.Phe3239Tyr) c.9701T>A (p.Phe3234Tyr) c.2915T>A (p.Phe972Tyr) c.2894T>A (p.Phe965Tyr) n.2523-9050A>T n.9792T>A | |
5 | g.90724859T>C | CA360402502 | ADGRV1 | c.9776T>C (p.Phe3259Ser) c.265+48650T>C (n.265+48650T>C) n.2920T>C n.195T>C c.4505T>C c.2473T>C n.9789T>C c.9773T>C (p.Phe3258Ser) c.9695T>C (p.Phe3232Ser) c.7079T>C (p.Phe2360Ser) n.272-9050A>G c.9797T>C (p.Phe3266Ser) c.9794T>C (p.Phe3265Ser) c.9716T>C (p.Phe3239Ser) c.9701T>C (p.Phe3234Ser) c.2915T>C (p.Phe972Ser) c.2894T>C (p.Phe965Ser) n.2523-9050A>G n.9792T>C | |
5 | g.90724859T>G | CA360402503 | ADGRV1 | c.9776T>G (p.Phe3259Cys) c.265+48650T>G (n.265+48650T>G) n.2920T>G n.195T>G c.4505T>G c.2473T>G n.9789T>G c.9773T>G (p.Phe3258Cys) c.9695T>G (p.Phe3232Cys) c.7079T>G (p.Phe2360Cys) n.272-9050A>C c.9797T>G (p.Phe3266Cys) c.9794T>G (p.Phe3265Cys) c.9716T>G (p.Phe3239Cys) c.9701T>G (p.Phe3234Cys) c.2915T>G (p.Phe972Cys) c.2894T>G (p.Phe965Cys) n.2523-9050A>C n.9792T>G | |
5 | g.90724860T>A | CA360402504 | ADGRV1 | c.9777T>A (p.Phe3259Leu) c.265+48651T>A (n.265+48651T>A) n.2921T>A n.196T>A c.4506T>A c.2474T>A n.9790T>A c.9774T>A (p.Phe3258Leu) c.9696T>A (p.Phe3232Leu) c.7080T>A (p.Phe2360Leu) n.272-9051A>T c.9798T>A (p.Phe3266Leu) c.9795T>A (p.Phe3265Leu) c.9717T>A (p.Phe3239Leu) c.9702T>A (p.Phe3234Leu) c.2916T>A (p.Phe972Leu) c.2895T>A (p.Phe965Leu) n.2523-9051A>T n.9793T>A | |
5 | g.90724860T>C | CA3340595 | ADGRV1 | c.9777T>C (p.Phe3259=) c.265+48651T>C (n.265+48651T>C) n.2921T>C n.196T>C c.4506T>C c.2474T>C n.9790T>C c.9774T>C (p.Phe3258=) c.9696T>C (p.Phe3232=) c.7080T>C (p.Phe2360=) n.272-9051A>G c.9798T>C (p.Phe3266=) c.9795T>C (p.Phe3265=) c.9717T>C (p.Phe3239=) c.9702T>C (p.Phe3234=) c.2916T>C (p.Phe972=) c.2895T>C (p.Phe965=) n.2523-9051A>G n.9793T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90724860T>G | CA360402505 | ADGRV1 | c.9777T>G (p.Phe3259Leu) c.265+48651T>G (n.265+48651T>G) n.2921T>G n.196T>G c.4506T>G c.2474T>G n.9790T>G c.9774T>G (p.Phe3258Leu) c.9696T>G (p.Phe3232Leu) c.7080T>G (p.Phe2360Leu) n.272-9051A>C c.9798T>G (p.Phe3266Leu) c.9795T>G (p.Phe3265Leu) c.9717T>G (p.Phe3239Leu) c.9702T>G (p.Phe3234Leu) c.2916T>G (p.Phe972Leu) c.2895T>G (p.Phe965Leu) n.2523-9051A>C n.9793T>G | |
5 | g.90724860T= | CA1562873263 | ADGRV1 | c.9777T= (p.Phe3259=) c.265+48651T= (n.265+48651T=) n.2921T= n.196T= c.4506T= c.2474T= n.9790T= c.9774T= (p.Phe3258=) c.9696T= (p.Phe3232=) c.7080T= (p.Phe2360=) n.272-9051A= c.9798T= (p.Phe3266=) c.9795T= (p.Phe3265=) c.9717T= (p.Phe3239=) c.9702T= (p.Phe3234=) c.2916T= (p.Phe972=) c.2895T= (p.Phe965=) n.2523-9051A= n.9793T= | |
5 | g.90724861C>A | CA360402507 | ADGRV1 | c.9778C>A (p.Gln3260Lys) c.265+48652C>A (n.265+48652C>A) n.2922C>A n.197C>A c.4507C>A c.2475C>A n.9791C>A c.9775C>A (p.Gln3259Lys) c.9697C>A (p.Gln3233Lys) c.7081C>A (p.Gln2361Lys) n.272-9052G>T c.9799C>A (p.Gln3267Lys) c.9796C>A (p.Gln3266Lys) c.9718C>A (p.Gln3240Lys) c.9703C>A (p.Gln3235Lys) c.2917C>A (p.Gln973Lys) c.2896C>A (p.Gln966Lys) n.2523-9052G>T n.9794C>A | gnomAD v4 |
5 | g.90724861C>G | CA360402508 | ADGRV1 | c.9778C>G (p.Gln3260Glu) c.265+48652C>G (n.265+48652C>G) n.2922C>G n.197C>G c.4507C>G c.2475C>G n.9791C>G c.9775C>G (p.Gln3259Glu) c.9697C>G (p.Gln3233Glu) c.7081C>G (p.Gln2361Glu) n.272-9052G>C c.9799C>G (p.Gln3267Glu) c.9796C>G (p.Gln3266Glu) c.9718C>G (p.Gln3240Glu) c.9703C>G (p.Gln3235Glu) c.2917C>G (p.Gln973Glu) c.2896C>G (p.Gln966Glu) n.2523-9052G>C n.9794C>G | gnomAD v4 |
5 | g.90724861C>T | CA360402506 | ADGRV1 | c.9778C>T (p.Gln3260Ter) c.265+48652C>T (n.265+48652C>T) n.2922C>T n.197C>T c.4507C>T c.2475C>T n.9791C>T c.9775C>T (p.Gln3259Ter) c.9697C>T (p.Gln3233Ter) c.7081C>T (p.Gln2361Ter) n.272-9052G>A c.9799C>T (p.Gln3267Ter) c.9796C>T (p.Gln3266Ter) c.9718C>T (p.Gln3240Ter) c.9703C>T (p.Gln3235Ter) c.2917C>T (p.Gln973Ter) c.2896C>T (p.Gln966Ter) n.2523-9052G>A n.9794C>T | gnomAD v4 |
5 | g.90724862A= | CA1562873264 | ADGRV1 | c.9779A= (p.Gln3260=) c.265+48653A= (n.265+48653A=) n.2923A= n.198A= c.4508A= c.2476A= n.9792A= c.9776A= (p.Gln3259=) c.9698A= (p.Gln3233=) c.7082A= (p.Gln2361=) n.272-9053T= c.9800A= (p.Gln3267=) c.9797A= (p.Gln3266=) c.9719A= (p.Gln3240=) c.9704A= (p.Gln3235=) c.2918A= (p.Gln973=) c.2897A= (p.Gln966=) n.2523-9053T= n.9795A= | |
5 | g.90724862A>C | CA360402509 | ADGRV1 | c.9779A>C (p.Gln3260Pro) c.265+48653A>C (n.265+48653A>C) n.2923A>C n.198A>C c.4508A>C c.2476A>C n.9792A>C c.9776A>C (p.Gln3259Pro) c.9698A>C (p.Gln3233Pro) c.7082A>C (p.Gln2361Pro) n.272-9053T>G c.9800A>C (p.Gln3267Pro) c.9797A>C (p.Gln3266Pro) c.9719A>C (p.Gln3240Pro) c.9704A>C (p.Gln3235Pro) c.2918A>C (p.Gln973Pro) c.2897A>C (p.Gln966Pro) n.2523-9053T>G n.9795A>C | |
5 | g.90724862A>G | CA360402510 | ADGRV1 | c.9779A>G (p.Gln3260Arg) c.265+48653A>G (n.265+48653A>G) n.2923A>G n.198A>G c.4508A>G c.2476A>G n.9792A>G c.9776A>G (p.Gln3259Arg) c.9698A>G (p.Gln3233Arg) c.7082A>G (p.Gln2361Arg) n.272-9053T>C c.9800A>G (p.Gln3267Arg) c.9797A>G (p.Gln3266Arg) c.9719A>G (p.Gln3240Arg) c.9704A>G (p.Gln3235Arg) c.2918A>G (p.Gln973Arg) c.2897A>G (p.Gln966Arg) n.2523-9053T>C n.9795A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90724862A>T | CA360402511 | ADGRV1 | c.9779A>T (p.Gln3260Leu) c.265+48653A>T (n.265+48653A>T) n.2923A>T n.198A>T c.4508A>T c.2476A>T n.9792A>T c.9776A>T (p.Gln3259Leu) c.9698A>T (p.Gln3233Leu) c.7082A>T (p.Gln2361Leu) n.272-9053T>A c.9800A>T (p.Gln3267Leu) c.9797A>T (p.Gln3266Leu) c.9719A>T (p.Gln3240Leu) c.9704A>T (p.Gln3235Leu) c.2918A>T (p.Gln973Leu) c.2897A>T (p.Gln966Leu) n.2523-9053T>A n.9795A>T | |
5 | g.90724863A= | CA1562873265 | ADGRV1 | c.9780A= (p.Gln3260=) c.265+48654A= (n.265+48654A=) n.2924A= n.199A= c.4509A= c.2477A= n.9793A= c.9777A= (p.Gln3259=) c.9699A= (p.Gln3233=) c.7083A= (p.Gln2361=) n.272-9054T= c.9801A= (p.Gln3267=) c.9798A= (p.Gln3266=) c.9720A= (p.Gln3240=) c.9705A= (p.Gln3235=) c.2919A= (p.Gln973=) c.2898A= (p.Gln966=) n.2523-9054T= n.9796A= | |
5 | g.90724863A>C | CA360402512 | ADGRV1 | c.9780A>C (p.Gln3260His) c.265+48654A>C (n.265+48654A>C) n.2924A>C n.199A>C c.4509A>C c.2477A>C n.9793A>C c.9777A>C (p.Gln3259His) c.9699A>C (p.Gln3233His) c.7083A>C (p.Gln2361His) n.272-9054T>G c.9801A>C (p.Gln3267His) c.9798A>C (p.Gln3266His) c.9720A>C (p.Gln3240His) c.9705A>C (p.Gln3235His) c.2919A>C (p.Gln973His) c.2898A>C (p.Gln966His) n.2523-9054T>G n.9796A>C | dbSNP gnomAD v4 |
5 | g.90724863A>G | CA3340596 | ADGRV1 | c.9780A>G (p.Gln3260=) c.265+48654A>G (n.265+48654A>G) n.2924A>G n.199A>G c.4509A>G c.2477A>G n.9793A>G c.9777A>G (p.Gln3259=) c.9699A>G (p.Gln3233=) c.7083A>G (p.Gln2361=) n.272-9054T>C c.9801A>G (p.Gln3267=) c.9798A>G (p.Gln3266=) c.9720A>G (p.Gln3240=) c.9705A>G (p.Gln3235=) c.2919A>G (p.Gln973=) c.2898A>G (p.Gln966=) n.2523-9054T>C n.9796A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90724863A>T | CA360402513 | ADGRV1 | c.9780A>T (p.Gln3260His) c.265+48654A>T (n.265+48654A>T) n.2924A>T n.199A>T c.4509A>T c.2477A>T n.9793A>T c.9777A>T (p.Gln3259His) c.9699A>T (p.Gln3233His) c.7083A>T (p.Gln2361His) n.272-9054T>A c.9801A>T (p.Gln3267His) c.9798A>T (p.Gln3266His) c.9720A>T (p.Gln3240His) c.9705A>T (p.Gln3235His) c.2919A>T (p.Gln973His) c.2898A>T (p.Gln966His) n.2523-9054T>A n.9796A>T | |
5 | g.90724864A>C | CA360402516 | ADGRV1 | c.9781A>C (p.Ser3261Arg) c.265+48655A>C (n.265+48655A>C) n.2925A>C n.200A>C c.4510A>C c.2478A>C n.9794A>C c.9778A>C (p.Ser3260Arg) c.9700A>C (p.Ser3234Arg) c.7084A>C (p.Ser2362Arg) n.272-9055T>G c.9802A>C (p.Ser3268Arg) c.9799A>C (p.Ser3267Arg) c.9721A>C (p.Ser3241Arg) c.9706A>C (p.Ser3236Arg) c.2920A>C (p.Ser974Arg) c.2899A>C (p.Ser967Arg) n.2523-9055T>G n.9797A>C | |
5 | g.90724864A>G | CA360402514 | ADGRV1 | c.9781A>G (p.Ser3261Gly) c.265+48655A>G (n.265+48655A>G) n.2925A>G n.200A>G c.4510A>G c.2478A>G n.9794A>G c.9778A>G (p.Ser3260Gly) c.9700A>G (p.Ser3234Gly) c.7084A>G (p.Ser2362Gly) n.272-9055T>C c.9802A>G (p.Ser3268Gly) c.9799A>G (p.Ser3267Gly) c.9721A>G (p.Ser3241Gly) c.9706A>G (p.Ser3236Gly) c.2920A>G (p.Ser974Gly) c.2899A>G (p.Ser967Gly) n.2523-9055T>C n.9797A>G | |
5 | g.90724864A>T | CA360402515 | ADGRV1 | c.9781A>T (p.Ser3261Cys) c.265+48655A>T (n.265+48655A>T) n.2925A>T n.200A>T c.4510A>T c.2478A>T n.9794A>T c.9778A>T (p.Ser3260Cys) c.9700A>T (p.Ser3234Cys) c.7084A>T (p.Ser2362Cys) n.272-9055T>A c.9802A>T (p.Ser3268Cys) c.9799A>T (p.Ser3267Cys) c.9721A>T (p.Ser3241Cys) c.9706A>T (p.Ser3236Cys) c.2920A>T (p.Ser974Cys) c.2899A>T (p.Ser967Cys) n.2523-9055T>A n.9797A>T | |
5 | g.90724865G>A | CA360402517 | ADGRV1 | c.9782G>A (p.Ser3261Asn) c.265+48656G>A (n.265+48656G>A) n.2926G>A n.201G>A c.4511G>A c.2479G>A n.9795G>A c.9779G>A (p.Ser3260Asn) c.9701G>A (p.Ser3234Asn) c.7085G>A (p.Ser2362Asn) n.272-9056C>T c.9803G>A (p.Ser3268Asn) c.9800G>A (p.Ser3267Asn) c.9722G>A (p.Ser3241Asn) c.9707G>A (p.Ser3236Asn) c.2921G>A (p.Ser974Asn) c.2900G>A (p.Ser967Asn) n.2523-9056C>T n.9798G>A | ClinVar dbSNP |
5 | g.90724865G>C | CA360402518 | ADGRV1 | c.9782G>C (p.Ser3261Thr) c.265+48656G>C (n.265+48656G>C) n.2926G>C n.201G>C c.4511G>C c.2479G>C n.9795G>C c.9779G>C (p.Ser3260Thr) c.9701G>C (p.Ser3234Thr) c.7085G>C (p.Ser2362Thr) n.272-9056C>G c.9803G>C (p.Ser3268Thr) c.9800G>C (p.Ser3267Thr) c.9722G>C (p.Ser3241Thr) c.9707G>C (p.Ser3236Thr) c.2921G>C (p.Ser974Thr) c.2900G>C (p.Ser967Thr) n.2523-9056C>G n.9798G>C | |
5 | g.90724865G= | CA1562873266 | ADGRV1 | c.9782G= (p.Ser3261=) c.265+48656G= (n.265+48656G=) n.2926G= n.201G= c.4511G= c.2479G= n.9795G= c.9779G= (p.Ser3260=) c.9701G= (p.Ser3234=) c.7085G= (p.Ser2362=) n.272-9056C= c.9803G= (p.Ser3268=) c.9800G= (p.Ser3267=) c.9722G= (p.Ser3241=) c.9707G= (p.Ser3236=) c.2921G= (p.Ser974=) c.2900G= (p.Ser967=) n.2523-9056C= n.9798G= | |
5 | g.90724865G>T | CA360402519 | ADGRV1 | c.9782G>T (p.Ser3261Ile) c.265+48656G>T (n.265+48656G>T) n.2926G>T n.201G>T c.4511G>T c.2479G>T n.9795G>T c.9779G>T (p.Ser3260Ile) c.9701G>T (p.Ser3234Ile) c.7085G>T (p.Ser2362Ile) n.272-9056C>A c.9803G>T (p.Ser3268Ile) c.9800G>T (p.Ser3267Ile) c.9722G>T (p.Ser3241Ile) c.9707G>T (p.Ser3236Ile) c.2921G>T (p.Ser974Ile) c.2900G>T (p.Ser967Ile) n.2523-9056C>A n.9798G>T | |
5 | g.90724866T>A | CA360402520 | ADGRV1 | c.9783T>A (p.Ser3261Arg) c.265+48657T>A (n.265+48657T>A) n.2927T>A n.202T>A c.4512T>A c.2480T>A n.9796T>A c.9780T>A (p.Ser3260Arg) c.9702T>A (p.Ser3234Arg) c.7086T>A (p.Ser2362Arg) n.272-9057A>T c.9804T>A (p.Ser3268Arg) c.9801T>A (p.Ser3267Arg) c.9723T>A (p.Ser3241Arg) c.9708T>A (p.Ser3236Arg) c.2922T>A (p.Ser974Arg) c.2901T>A (p.Ser967Arg) n.2523-9057A>T n.9799T>A | |
5 | g.90724866T>C | CA445468195 | ADGRV1 | c.9783T>C (p.Ser3261=) c.265+48657T>C (n.265+48657T>C) n.2927T>C n.202T>C c.4512T>C c.2480T>C n.9796T>C c.9780T>C (p.Ser3260=) c.9702T>C (p.Ser3234=) c.7086T>C (p.Ser2362=) n.272-9057A>G c.9804T>C (p.Ser3268=) c.9801T>C (p.Ser3267=) c.9723T>C (p.Ser3241=) c.9708T>C (p.Ser3236=) c.2922T>C (p.Ser974=) c.2901T>C (p.Ser967=) n.2523-9057A>G n.9799T>C | |
5 | g.90724866T>G | CA360402521 | ADGRV1 | c.9783T>G (p.Ser3261Arg) c.265+48657T>G (n.265+48657T>G) n.2927T>G n.202T>G c.4512T>G c.2480T>G n.9796T>G c.9780T>G (p.Ser3260Arg) c.9702T>G (p.Ser3234Arg) c.7086T>G (p.Ser2362Arg) n.272-9057A>C c.9804T>G (p.Ser3268Arg) c.9801T>G (p.Ser3267Arg) c.9723T>G (p.Ser3241Arg) c.9708T>G (p.Ser3236Arg) c.2922T>G (p.Ser974Arg) c.2901T>G (p.Ser967Arg) n.2523-9057A>C n.9799T>G | |
5 | g.90724871del | CA2674548273 | ADGRV1 | c.9788del (p.Leu3263TrpfsTer16) c.265+48662del (n.265+48662del) n.2932del n.207del c.4517del c.2485del n.9801del c.9785del (p.Leu3262TrpfsTer16) c.9707del (p.Leu3236TrpfsTer16) c.7091del (p.Leu2364TrpfsTer16) n.272-9057del c.9809del (p.Leu3270TrpfsTer16) c.9806del (p.Leu3269TrpfsTer16) c.9728del (p.Leu3243TrpfsTer16) c.9713del (p.Leu3238TrpfsTer16) c.2927del (p.Leu976TrpfsTer16) c.2906del (p.Leu969TrpfsTer16) n.2523-9057del n.9804del | gnomAD v4 |
5 | g.90724867T>A | CA360402522 | ADGRV1 | c.9784T>A (p.Phe3262Ile) c.265+48658T>A (n.265+48658T>A) n.2928T>A n.203T>A c.4513T>A c.2481T>A n.9797T>A c.9781T>A (p.Phe3261Ile) c.9703T>A (p.Phe3235Ile) c.7087T>A (p.Phe2363Ile) n.272-9058A>T c.9805T>A (p.Phe3269Ile) c.9802T>A (p.Phe3268Ile) c.9724T>A (p.Phe3242Ile) c.9709T>A (p.Phe3237Ile) c.2923T>A (p.Phe975Ile) c.2902T>A (p.Phe968Ile) n.2523-9058A>T n.9800T>A | |
5 | g.90724867T>C | CA360402524 | ADGRV1 | c.9784T>C (p.Phe3262Leu) c.265+48658T>C (n.265+48658T>C) n.2928T>C n.203T>C c.4513T>C c.2481T>C n.9797T>C c.9781T>C (p.Phe3261Leu) c.9703T>C (p.Phe3235Leu) c.7087T>C (p.Phe2363Leu) n.272-9058A>G c.9805T>C (p.Phe3269Leu) c.9802T>C (p.Phe3268Leu) c.9724T>C (p.Phe3242Leu) c.9709T>C (p.Phe3237Leu) c.2923T>C (p.Phe975Leu) c.2902T>C (p.Phe968Leu) n.2523-9058A>G n.9800T>C | |
5 | g.90724867T>G | CA360402523 | ADGRV1 | c.9784T>G (p.Phe3262Val) c.265+48658T>G (n.265+48658T>G) n.2928T>G n.203T>G c.4513T>G c.2481T>G n.9797T>G c.9781T>G (p.Phe3261Val) c.9703T>G (p.Phe3235Val) c.7087T>G (p.Phe2363Val) n.272-9058A>C c.9805T>G (p.Phe3269Val) c.9802T>G (p.Phe3268Val) c.9724T>G (p.Phe3242Val) c.9709T>G (p.Phe3237Val) c.2923T>G (p.Phe975Val) c.2902T>G (p.Phe968Val) n.2523-9058A>C n.9800T>G | |
5 | g.90724868T>A | CA360402525 | ADGRV1 | c.9785T>A (p.Phe3262Tyr) c.265+48659T>A (n.265+48659T>A) n.2929T>A n.204T>A c.4514T>A c.2482T>A n.9798T>A c.9782T>A (p.Phe3261Tyr) c.9704T>A (p.Phe3235Tyr) c.7088T>A (p.Phe2363Tyr) n.272-9059A>T c.9806T>A (p.Phe3269Tyr) c.9803T>A (p.Phe3268Tyr) c.9725T>A (p.Phe3242Tyr) c.9710T>A (p.Phe3237Tyr) c.2924T>A (p.Phe975Tyr) c.2903T>A (p.Phe968Tyr) n.2523-9059A>T n.9801T>A | |
5 | g.90724868T>C | CA360402526 | ADGRV1 | c.9785T>C (p.Phe3262Ser) c.265+48659T>C (n.265+48659T>C) n.2929T>C n.204T>C c.4514T>C c.2482T>C n.9798T>C c.9782T>C (p.Phe3261Ser) c.9704T>C (p.Phe3235Ser) c.7088T>C (p.Phe2363Ser) n.272-9059A>G c.9806T>C (p.Phe3269Ser) c.9803T>C (p.Phe3268Ser) c.9725T>C (p.Phe3242Ser) c.9710T>C (p.Phe3237Ser) c.2924T>C (p.Phe975Ser) c.2903T>C (p.Phe968Ser) n.2523-9059A>G n.9801T>C | |
5 | g.90724868T>G | CA360402527 | ADGRV1 | c.9785T>G (p.Phe3262Cys) c.265+48659T>G (n.265+48659T>G) n.2929T>G n.204T>G c.4514T>G c.2482T>G n.9798T>G c.9782T>G (p.Phe3261Cys) c.9704T>G (p.Phe3235Cys) c.7088T>G (p.Phe2363Cys) n.272-9059A>C c.9806T>G (p.Phe3269Cys) c.9803T>G (p.Phe3268Cys) c.9725T>G (p.Phe3242Cys) c.9710T>G (p.Phe3237Cys) c.2924T>G (p.Phe975Cys) c.2903T>G (p.Phe968Cys) n.2523-9059A>C n.9801T>G | |
5 | g.90724869T>A | CA360402528 | ADGRV1 | c.9786T>A (p.Phe3262Leu) c.265+48660T>A (n.265+48660T>A) n.2930T>A n.205T>A c.4515T>A c.2483T>A n.9799T>A c.9783T>A (p.Phe3261Leu) c.9705T>A (p.Phe3235Leu) c.7089T>A (p.Phe2363Leu) n.272-9060A>T c.9807T>A (p.Phe3269Leu) c.9804T>A (p.Phe3268Leu) c.9726T>A (p.Phe3242Leu) c.9711T>A (p.Phe3237Leu) c.2925T>A (p.Phe975Leu) c.2904T>A (p.Phe968Leu) n.2523-9060A>T n.9802T>A | |
5 | g.90724869T>C | CA445468204 | ADGRV1 | c.9786T>C (p.Phe3262=) c.265+48660T>C (n.265+48660T>C) n.2930T>C n.205T>C c.4515T>C c.2483T>C n.9799T>C c.9783T>C (p.Phe3261=) c.9705T>C (p.Phe3235=) c.7089T>C (p.Phe2363=) n.272-9060A>G c.9807T>C (p.Phe3269=) c.9804T>C (p.Phe3268=) c.9726T>C (p.Phe3242=) c.9711T>C (p.Phe3237=) c.2925T>C (p.Phe975=) c.2904T>C (p.Phe968=) n.2523-9060A>G n.9802T>C |