Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90789737G>ACA445415743ADGRV1c.13929G>A (p.Gln4643=)
c.2883G>A (p.Gln961=)
n.1196G>A
c.558G>A (p.Gln186=)
c.265+113528G>A (n.265+113528G>A)
c.339G>A (p.Gln113=)
c.912G>A (p.Gln304=)
n.13942G>A
c.13926G>A (p.Gln4642=)
c.13848G>A (p.Gln4616=)
c.11232G>A (p.Gln3744=)
c.13950G>A (p.Gln4650=)
c.13947G>A (p.Gln4649=)
c.13869G>A (p.Gln4623=)
c.13854G>A (p.Gln4618=)
c.7068G>A (p.Gln2356=)
c.7047G>A (p.Gln2349=)
n.13945G>A
 dbSNP gnomAD v3 gnomAD v4
5g.90789737G>CCA360398617ADGRV1c.13929G>C (p.Gln4643His)
c.2883G>C (p.Gln961His)
n.1196G>C
c.558G>C (p.Gln186His)
c.265+113528G>C (n.265+113528G>C)
c.339G>C (p.Gln113His)
c.912G>C (p.Gln304His)
n.13942G>C
c.13926G>C (p.Gln4642His)
c.13848G>C (p.Gln4616His)
c.11232G>C (p.Gln3744His)
c.13950G>C (p.Gln4650His)
c.13947G>C (p.Gln4649His)
c.13869G>C (p.Gln4623His)
c.13854G>C (p.Gln4618His)
c.7068G>C (p.Gln2356His)
c.7047G>C (p.Gln2349His)
n.13945G>C
5g.90789737G=CA1562901671ADGRV1c.13929G= (p.Gln4643=)
c.2883G= (p.Gln961=)
n.1196G=
c.558G= (p.Gln186=)
c.265+113528G= (n.265+113528G=)
c.339G= (p.Gln113=)
c.912G= (p.Gln304=)
n.13942G=
c.13926G= (p.Gln4642=)
c.13848G= (p.Gln4616=)
c.11232G= (p.Gln3744=)
c.13950G= (p.Gln4650=)
c.13947G= (p.Gln4649=)
c.13869G= (p.Gln4623=)
c.13854G= (p.Gln4618=)
c.7068G= (p.Gln2356=)
c.7047G= (p.Gln2349=)
n.13945G=
5g.90789737G>TCA360398619ADGRV1c.13929G>T (p.Gln4643His)
c.2883G>T (p.Gln961His)
n.1196G>T
c.558G>T (p.Gln186His)
c.265+113528G>T (n.265+113528G>T)
c.339G>T (p.Gln113His)
c.912G>T (p.Gln304His)
n.13942G>T
c.13926G>T (p.Gln4642His)
c.13848G>T (p.Gln4616His)
c.11232G>T (p.Gln3744His)
c.13950G>T (p.Gln4650His)
c.13947G>T (p.Gln4649His)
c.13869G>T (p.Gln4623His)
c.13854G>T (p.Gln4618His)
c.7068G>T (p.Gln2356His)
c.7047G>T (p.Gln2349His)
n.13945G>T
 gnomAD v4
5g.90789738T>ACA122810845ADGRV1c.13930T>A (p.Phe4644Ile)
c.2884T>A (p.Phe962Ile)
n.1197T>A
c.559T>A (p.Phe187Ile)
c.265+113529T>A (n.265+113529T>A)
c.340T>A (p.Phe114Ile)
c.913T>A (p.Phe305Ile)
n.13943T>A
c.13927T>A (p.Phe4643Ile)
c.13849T>A (p.Phe4617Ile)
c.11233T>A (p.Phe3745Ile)
c.13951T>A (p.Phe4651Ile)
c.13948T>A (p.Phe4650Ile)
c.13870T>A (p.Phe4624Ile)
c.13855T>A (p.Phe4619Ile)
c.7069T>A (p.Phe2357Ile)
c.7048T>A (p.Phe2350Ile)
n.13946T>A
 dbSNP gnomAD v4
5g.90789738T>CCA360398624ADGRV1c.13930T>C (p.Phe4644Leu)
c.2884T>C (p.Phe962Leu)
n.1197T>C
c.559T>C (p.Phe187Leu)
c.265+113529T>C (n.265+113529T>C)
c.340T>C (p.Phe114Leu)
c.913T>C (p.Phe305Leu)
n.13943T>C
c.13927T>C (p.Phe4643Leu)
c.13849T>C (p.Phe4617Leu)
c.11233T>C (p.Phe3745Leu)
c.13951T>C (p.Phe4651Leu)
c.13948T>C (p.Phe4650Leu)
c.13870T>C (p.Phe4624Leu)
c.13855T>C (p.Phe4619Leu)
c.7069T>C (p.Phe2357Leu)
c.7048T>C (p.Phe2350Leu)
n.13946T>C
5g.90789738T>GCA360398628ADGRV1c.13930T>G (p.Phe4644Val)
c.2884T>G (p.Phe962Val)
n.1197T>G
c.559T>G (p.Phe187Val)
c.265+113529T>G (n.265+113529T>G)
c.340T>G (p.Phe114Val)
c.913T>G (p.Phe305Val)
n.13943T>G
c.13927T>G (p.Phe4643Val)
c.13849T>G (p.Phe4617Val)
c.11233T>G (p.Phe3745Val)
c.13951T>G (p.Phe4651Val)
c.13948T>G (p.Phe4650Val)
c.13870T>G (p.Phe4624Val)
c.13855T>G (p.Phe4619Val)
c.7069T>G (p.Phe2357Val)
c.7048T>G (p.Phe2350Val)
n.13946T>G
5g.90789738T=CA1562901672ADGRV1c.13930T= (p.Phe4644=)
c.2884T= (p.Phe962=)
n.1197T=
c.559T= (p.Phe187=)
c.265+113529T= (n.265+113529T=)
c.340T= (p.Phe114=)
c.913T= (p.Phe305=)
n.13943T=
c.13927T= (p.Phe4643=)
c.13849T= (p.Phe4617=)
c.11233T= (p.Phe3745=)
c.13951T= (p.Phe4651=)
c.13948T= (p.Phe4650=)
c.13870T= (p.Phe4624=)
c.13855T= (p.Phe4619=)
c.7069T= (p.Phe2357=)
c.7048T= (p.Phe2350=)
n.13946T=
5g.90789739T>ACA360398631ADGRV1c.13931T>A (p.Phe4644Tyr)
c.2885T>A (p.Phe962Tyr)
n.1198T>A
c.560T>A (p.Phe187Tyr)
c.265+113530T>A (n.265+113530T>A)
c.341T>A (p.Phe114Tyr)
c.914T>A (p.Phe305Tyr)
n.13944T>A
c.13928T>A (p.Phe4643Tyr)
c.13850T>A (p.Phe4617Tyr)
c.11234T>A (p.Phe3745Tyr)
c.13952T>A (p.Phe4651Tyr)
c.13949T>A (p.Phe4650Tyr)
c.13871T>A (p.Phe4624Tyr)
c.13856T>A (p.Phe4619Tyr)
c.7070T>A (p.Phe2357Tyr)
c.7049T>A (p.Phe2350Tyr)
n.13947T>A
 gnomAD v4
5g.90789739T>CCA360398634ADGRV1c.13931T>C (p.Phe4644Ser)
c.2885T>C (p.Phe962Ser)
n.1198T>C
c.560T>C (p.Phe187Ser)
c.265+113530T>C (n.265+113530T>C)
c.341T>C (p.Phe114Ser)
c.914T>C (p.Phe305Ser)
n.13944T>C
c.13928T>C (p.Phe4643Ser)
c.13850T>C (p.Phe4617Ser)
c.11234T>C (p.Phe3745Ser)
c.13952T>C (p.Phe4651Ser)
c.13949T>C (p.Phe4650Ser)
c.13871T>C (p.Phe4624Ser)
c.13856T>C (p.Phe4619Ser)
c.7070T>C (p.Phe2357Ser)
c.7049T>C (p.Phe2350Ser)
n.13947T>C
5g.90789739T>GCA360398636ADGRV1c.13931T>G (p.Phe4644Cys)
c.2885T>G (p.Phe962Cys)
n.1198T>G
c.560T>G (p.Phe187Cys)
c.265+113530T>G (n.265+113530T>G)
c.341T>G (p.Phe114Cys)
c.914T>G (p.Phe305Cys)
n.13944T>G
c.13928T>G (p.Phe4643Cys)
c.13850T>G (p.Phe4617Cys)
c.11234T>G (p.Phe3745Cys)
c.13952T>G (p.Phe4651Cys)
c.13949T>G (p.Phe4650Cys)
c.13871T>G (p.Phe4624Cys)
c.13856T>G (p.Phe4619Cys)
c.7070T>G (p.Phe2357Cys)
c.7049T>G (p.Phe2350Cys)
n.13947T>G
5g.90789740T>ACA360398641ADGRV1c.13932T>A (p.Phe4644Leu)
c.2886T>A (p.Phe962Leu)
n.1199T>A
c.561T>A (p.Phe187Leu)
c.265+113531T>A (n.265+113531T>A)
c.342T>A (p.Phe114Leu)
c.915T>A (p.Phe305Leu)
n.13945T>A
c.13929T>A (p.Phe4643Leu)
c.13851T>A (p.Phe4617Leu)
c.11235T>A (p.Phe3745Leu)
c.13953T>A (p.Phe4651Leu)
c.13950T>A (p.Phe4650Leu)
c.13872T>A (p.Phe4624Leu)
c.13857T>A (p.Phe4619Leu)
c.7071T>A (p.Phe2357Leu)
c.7050T>A (p.Phe2350Leu)
n.13948T>A
5g.90789740T>CCA445415748ADGRV1c.13932T>C (p.Phe4644=)
c.2886T>C (p.Phe962=)
n.1199T>C
c.561T>C (p.Phe187=)
c.265+113531T>C (n.265+113531T>C)
c.342T>C (p.Phe114=)
c.915T>C (p.Phe305=)
n.13945T>C
c.13929T>C (p.Phe4643=)
c.13851T>C (p.Phe4617=)
c.11235T>C (p.Phe3745=)
c.13953T>C (p.Phe4651=)
c.13950T>C (p.Phe4650=)
c.13872T>C (p.Phe4624=)
c.13857T>C (p.Phe4619=)
c.7071T>C (p.Phe2357=)
c.7050T>C (p.Phe2350=)
n.13948T>C
 gnomAD v4
5g.90789740T>GCA360398643ADGRV1c.13932T>G (p.Phe4644Leu)
c.2886T>G (p.Phe962Leu)
n.1199T>G
c.561T>G (p.Phe187Leu)
c.265+113531T>G (n.265+113531T>G)
c.342T>G (p.Phe114Leu)
c.915T>G (p.Phe305Leu)
n.13945T>G
c.13929T>G (p.Phe4643Leu)
c.13851T>G (p.Phe4617Leu)
c.11235T>G (p.Phe3745Leu)
c.13953T>G (p.Phe4651Leu)
c.13950T>G (p.Phe4650Leu)
c.13872T>G (p.Phe4624Leu)
c.13857T>G (p.Phe4619Leu)
c.7071T>G (p.Phe2357Leu)
c.7050T>G (p.Phe2350Leu)
n.13948T>G
5g.90789741G>ACA3341644ADGRV1c.13933G>A (p.Ala4645Thr)
c.2887G>A (p.Ala963Thr)
n.1200G>A
c.562G>A (p.Ala188Thr)
c.265+113532G>A (n.265+113532G>A)
c.343G>A (p.Ala115Thr)
c.916G>A (p.Ala306Thr)
n.13946G>A
c.13930G>A (p.Ala4644Thr)
c.13852G>A (p.Ala4618Thr)
c.11236G>A (p.Ala3746Thr)
c.13954G>A (p.Ala4652Thr)
c.13951G>A (p.Ala4651Thr)
c.13873G>A (p.Ala4625Thr)
c.13858G>A (p.Ala4620Thr)
c.7072G>A (p.Ala2358Thr)
c.7051G>A (p.Ala2351Thr)
n.13949G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90789741G>CCA360398649ADGRV1c.13933G>C (p.Ala4645Pro)
c.2887G>C (p.Ala963Pro)
n.1200G>C
c.562G>C (p.Ala188Pro)
c.265+113532G>C (n.265+113532G>C)
c.343G>C (p.Ala115Pro)
c.916G>C (p.Ala306Pro)
n.13946G>C
c.13930G>C (p.Ala4644Pro)
c.13852G>C (p.Ala4618Pro)
c.11236G>C (p.Ala3746Pro)
c.13954G>C (p.Ala4652Pro)
c.13951G>C (p.Ala4651Pro)
c.13873G>C (p.Ala4625Pro)
c.13858G>C (p.Ala4620Pro)
c.7072G>C (p.Ala2358Pro)
c.7051G>C (p.Ala2351Pro)
n.13949G>C
5g.90789741G=CA1562901673ADGRV1c.13933G= (p.Ala4645=)
c.2887G= (p.Ala963=)
n.1200G=
c.562G= (p.Ala188=)
c.265+113532G= (n.265+113532G=)
c.343G= (p.Ala115=)
c.916G= (p.Ala306=)
n.13946G=
c.13930G= (p.Ala4644=)
c.13852G= (p.Ala4618=)
c.11236G= (p.Ala3746=)
c.13954G= (p.Ala4652=)
c.13951G= (p.Ala4651=)
c.13873G= (p.Ala4625=)
c.13858G= (p.Ala4620=)
c.7072G= (p.Ala2358=)
c.7051G= (p.Ala2351=)
n.13949G=
5g.90789741G>TCA360398651ADGRV1c.13933G>T (p.Ala4645Ser)
c.2887G>T (p.Ala963Ser)
n.1200G>T
c.562G>T (p.Ala188Ser)
c.265+113532G>T (n.265+113532G>T)
c.343G>T (p.Ala115Ser)
c.916G>T (p.Ala306Ser)
n.13946G>T
c.13930G>T (p.Ala4644Ser)
c.13852G>T (p.Ala4618Ser)
c.11236G>T (p.Ala3746Ser)
c.13954G>T (p.Ala4652Ser)
c.13951G>T (p.Ala4651Ser)
c.13873G>T (p.Ala4625Ser)
c.13858G>T (p.Ala4620Ser)
c.7072G>T (p.Ala2358Ser)
c.7051G>T (p.Ala2351Ser)
n.13949G>T
 gnomAD v4
5g.90789742C>ACA360398654ADGRV1c.13934C>A (p.Ala4645Asp)
c.2888C>A (p.Ala963Asp)
n.1201C>A
c.563C>A (p.Ala188Asp)
c.265+113533C>A (n.265+113533C>A)
c.344C>A (p.Ala115Asp)
c.917C>A (p.Ala306Asp)
n.13947C>A
c.13931C>A (p.Ala4644Asp)
c.13853C>A (p.Ala4618Asp)
c.11237C>A (p.Ala3746Asp)
c.13955C>A (p.Ala4652Asp)
c.13952C>A (p.Ala4651Asp)
c.13874C>A (p.Ala4625Asp)
c.13859C>A (p.Ala4620Asp)
c.7073C>A (p.Ala2358Asp)
c.7052C>A (p.Ala2351Asp)
n.13950C>A
 gnomAD v4
5g.90789742C>GCA360398656ADGRV1c.13934C>G (p.Ala4645Gly)
c.2888C>G (p.Ala963Gly)
n.1201C>G
c.563C>G (p.Ala188Gly)
c.265+113533C>G (n.265+113533C>G)
c.344C>G (p.Ala115Gly)
c.917C>G (p.Ala306Gly)
n.13947C>G
c.13931C>G (p.Ala4644Gly)
c.13853C>G (p.Ala4618Gly)
c.11237C>G (p.Ala3746Gly)
c.13955C>G (p.Ala4652Gly)
c.13952C>G (p.Ala4651Gly)
c.13874C>G (p.Ala4625Gly)
c.13859C>G (p.Ala4620Gly)
c.7073C>G (p.Ala2358Gly)
c.7052C>G (p.Ala2351Gly)
n.13950C>G
 gnomAD v4
5g.90789742C>TCA360398659ADGRV1c.13934C>T (p.Ala4645Val)
c.2888C>T (p.Ala963Val)
n.1201C>T
c.563C>T (p.Ala188Val)
c.265+113533C>T (n.265+113533C>T)
c.344C>T (p.Ala115Val)
c.917C>T (p.Ala306Val)
n.13947C>T
c.13931C>T (p.Ala4644Val)
c.13853C>T (p.Ala4618Val)
c.11237C>T (p.Ala3746Val)
c.13955C>T (p.Ala4652Val)
c.13952C>T (p.Ala4651Val)
c.13874C>T (p.Ala4625Val)
c.13859C>T (p.Ala4620Val)
c.7073C>T (p.Ala2358Val)
c.7052C>T (p.Ala2351Val)
n.13950C>T
 gnomAD v4
5g.90789743T>ACA445415752ADGRV1c.13935T>A (p.Ala4645=)
c.2889T>A (p.Ala963=)
n.1202T>A
c.564T>A (p.Ala188=)
c.265+113534T>A (n.265+113534T>A)
c.345T>A (p.Ala115=)
c.918T>A (p.Ala306=)
n.13948T>A
c.13932T>A (p.Ala4644=)
c.13854T>A (p.Ala4618=)
c.11238T>A (p.Ala3746=)
c.13956T>A (p.Ala4652=)
c.13953T>A (p.Ala4651=)
c.13875T>A (p.Ala4625=)
c.13860T>A (p.Ala4620=)
c.7074T>A (p.Ala2358=)
c.7053T>A (p.Ala2351=)
n.13951T>A
5g.90789743T>CCA445415753ADGRV1c.13935T>C (p.Ala4645=)
c.2889T>C (p.Ala963=)
n.1202T>C
c.564T>C (p.Ala188=)
c.265+113534T>C (n.265+113534T>C)
c.345T>C (p.Ala115=)
c.918T>C (p.Ala306=)
n.13948T>C
c.13932T>C (p.Ala4644=)
c.13854T>C (p.Ala4618=)
c.11238T>C (p.Ala3746=)
c.13956T>C (p.Ala4652=)
c.13953T>C (p.Ala4651=)
c.13875T>C (p.Ala4625=)
c.13860T>C (p.Ala4620=)
c.7074T>C (p.Ala2358=)
c.7053T>C (p.Ala2351=)
n.13951T>C
 dbSNP gnomAD v2 gnomAD v4
5g.90789743T>GCA445415754ADGRV1c.13935T>G (p.Ala4645=)
c.2889T>G (p.Ala963=)
n.1202T>G
c.564T>G (p.Ala188=)
c.265+113534T>G (n.265+113534T>G)
c.345T>G (p.Ala115=)
c.918T>G (p.Ala306=)
n.13948T>G
c.13932T>G (p.Ala4644=)
c.13854T>G (p.Ala4618=)
c.11238T>G (p.Ala3746=)
c.13956T>G (p.Ala4652=)
c.13953T>G (p.Ala4651=)
c.13875T>G (p.Ala4625=)
c.13860T>G (p.Ala4620=)
c.7074T>G (p.Ala2358=)
c.7053T>G (p.Ala2351=)
n.13951T>G
5g.90789743T=CA1562901674ADGRV1c.13935T= (p.Ala4645=)
c.2889T= (p.Ala963=)
n.1202T=
c.564T= (p.Ala188=)
c.265+113534T= (n.265+113534T=)
c.345T= (p.Ala115=)
c.918T= (p.Ala306=)
n.13948T=
c.13932T= (p.Ala4644=)
c.13854T= (p.Ala4618=)
c.11238T= (p.Ala3746=)
c.13956T= (p.Ala4652=)
c.13953T= (p.Ala4651=)
c.13875T= (p.Ala4625=)
c.13860T= (p.Ala4620=)
c.7074T= (p.Ala2358=)
c.7053T= (p.Ala2351=)
n.13951T=
5g.90789744C>ACA360398665ADGRV1c.13936C>A (p.Pro4646Thr)
c.2890C>A (p.Pro964Thr)
n.1203C>A
c.565C>A (p.Pro189Thr)
c.265+113535C>A (n.265+113535C>A)
c.346C>A (p.Pro116Thr)
c.919C>A (p.Pro307Thr)
n.13949C>A
c.13933C>A (p.Pro4645Thr)
c.13855C>A (p.Pro4619Thr)
c.11239C>A (p.Pro3747Thr)
c.13957C>A (p.Pro4653Thr)
c.13954C>A (p.Pro4652Thr)
c.13876C>A (p.Pro4626Thr)
c.13861C>A (p.Pro4621Thr)
c.7075C>A (p.Pro2359Thr)
c.7054C>A (p.Pro2352Thr)
n.13952C>A
 gnomAD v4
5g.90789744C>GCA360398666ADGRV1c.13936C>G (p.Pro4646Ala)
c.2890C>G (p.Pro964Ala)
n.1203C>G
c.565C>G (p.Pro189Ala)
c.265+113535C>G (n.265+113535C>G)
c.346C>G (p.Pro116Ala)
c.919C>G (p.Pro307Ala)
n.13949C>G
c.13933C>G (p.Pro4645Ala)
c.13855C>G (p.Pro4619Ala)
c.11239C>G (p.Pro3747Ala)
c.13957C>G (p.Pro4653Ala)
c.13954C>G (p.Pro4652Ala)
c.13876C>G (p.Pro4626Ala)
c.13861C>G (p.Pro4621Ala)
c.7075C>G (p.Pro2359Ala)
c.7054C>G (p.Pro2352Ala)
n.13952C>G
5g.90789744C>TCA360398668ADGRV1c.13936C>T (p.Pro4646Ser)
c.2890C>T (p.Pro964Ser)
n.1203C>T
c.565C>T (p.Pro189Ser)
c.265+113535C>T (n.265+113535C>T)
c.346C>T (p.Pro116Ser)
c.919C>T (p.Pro307Ser)
n.13949C>T
c.13933C>T (p.Pro4645Ser)
c.13855C>T (p.Pro4619Ser)
c.11239C>T (p.Pro3747Ser)
c.13957C>T (p.Pro4653Ser)
c.13954C>T (p.Pro4652Ser)
c.13876C>T (p.Pro4626Ser)
c.13861C>T (p.Pro4621Ser)
c.7075C>T (p.Pro2359Ser)
c.7054C>T (p.Pro2352Ser)
n.13952C>T
5g.90789745delCA645557171ADGRV1c.13937del (p.Pro4646LeufsTer?)
c.2891del (p.Pro964LeufsTer?)
n.1204del
c.566del (p.Pro189LeufsTer?)
c.265+113536del (n.265+113536del)
c.347del (p.Pro116LeufsTer?)
c.920del (p.Pro307LeufsTer?)
n.13950del
c.13934del (p.Pro4645LeufsTer?)
c.13856del (p.Pro4619LeufsTer?)
c.11240del (p.Pro3747LeufsTer?)
c.13958del (p.Pro4653LeufsTer?)
c.13955del (p.Pro4652LeufsTer?)
c.13877del (p.Pro4626LeufsTer?)
c.13862del (p.Pro4621LeufsTer?)
c.7076del (p.Pro2359LeufsTer?)
c.7055del (p.Pro2352LeufsTer?)
n.13953del
 COSMIC
5g.90789745C>ACA360398672ADGRV1c.13937C>A (p.Pro4646His)
c.2891C>A (p.Pro964His)
n.1204C>A
c.566C>A (p.Pro189His)
c.265+113536C>A (n.265+113536C>A)
c.347C>A (p.Pro116His)
c.920C>A (p.Pro307His)
n.13950C>A
c.13934C>A (p.Pro4645His)
c.13856C>A (p.Pro4619His)
c.11240C>A (p.Pro3747His)
c.13958C>A (p.Pro4653His)
c.13955C>A (p.Pro4652His)
c.13877C>A (p.Pro4626His)
c.13862C>A (p.Pro4621His)
c.7076C>A (p.Pro2359His)
c.7055C>A (p.Pro2352His)
n.13953C>A
 gnomAD v4
5g.90789745C>GCA360398675ADGRV1c.13937C>G (p.Pro4646Arg)
c.2891C>G (p.Pro964Arg)
n.1204C>G
c.566C>G (p.Pro189Arg)
c.265+113536C>G (n.265+113536C>G)
c.347C>G (p.Pro116Arg)
c.920C>G (p.Pro307Arg)
n.13950C>G
c.13934C>G (p.Pro4645Arg)
c.13856C>G (p.Pro4619Arg)
c.11240C>G (p.Pro3747Arg)
c.13958C>G (p.Pro4653Arg)
c.13955C>G (p.Pro4652Arg)
c.13877C>G (p.Pro4626Arg)
c.13862C>G (p.Pro4621Arg)
c.7076C>G (p.Pro2359Arg)
c.7055C>G (p.Pro2352Arg)
n.13953C>G
 gnomAD v4
5g.90789745C>TCA360398679ADGRV1c.13937C>T (p.Pro4646Leu)
c.2891C>T (p.Pro964Leu)
n.1204C>T
c.566C>T (p.Pro189Leu)
c.265+113536C>T (n.265+113536C>T)
c.347C>T (p.Pro116Leu)
c.920C>T (p.Pro307Leu)
n.13950C>T
c.13934C>T (p.Pro4645Leu)
c.13856C>T (p.Pro4619Leu)
c.11240C>T (p.Pro3747Leu)
c.13958C>T (p.Pro4653Leu)
c.13955C>T (p.Pro4652Leu)
c.13877C>T (p.Pro4626Leu)
c.13862C>T (p.Pro4621Leu)
c.7076C>T (p.Pro2359Leu)
c.7055C>T (p.Pro2352Leu)
n.13953C>T
 gnomAD v4 COSMIC
5g.90789746T>ACA445415758ADGRV1c.13938T>A (p.Pro4646=)
c.2892T>A (p.Pro964=)
n.1205T>A
c.567T>A (p.Pro189=)
c.265+113537T>A (n.265+113537T>A)
c.348T>A (p.Pro116=)
c.921T>A (p.Pro307=)
n.13951T>A
c.13935T>A (p.Pro4645=)
c.13857T>A (p.Pro4619=)
c.11241T>A (p.Pro3747=)
c.13959T>A (p.Pro4653=)
c.13956T>A (p.Pro4652=)
c.13878T>A (p.Pro4626=)
c.13863T>A (p.Pro4621=)
c.7077T>A (p.Pro2359=)
c.7056T>A (p.Pro2352=)
n.13954T>A
 gnomAD v4
5g.90789746T>CCA445415759ADGRV1c.13938T>C (p.Pro4646=)
c.2892T>C (p.Pro964=)
n.1205T>C
c.567T>C (p.Pro189=)
c.265+113537T>C (n.265+113537T>C)
c.348T>C (p.Pro116=)
c.921T>C (p.Pro307=)
n.13951T>C
c.13935T>C (p.Pro4645=)
c.13857T>C (p.Pro4619=)
c.11241T>C (p.Pro3747=)
c.13959T>C (p.Pro4653=)
c.13956T>C (p.Pro4652=)
c.13878T>C (p.Pro4626=)
c.13863T>C (p.Pro4621=)
c.7077T>C (p.Pro2359=)
c.7056T>C (p.Pro2352=)
n.13954T>C
 gnomAD v4
5g.90789746T>GCA445415760ADGRV1c.13938T>G (p.Pro4646=)
c.2892T>G (p.Pro964=)
n.1205T>G
c.567T>G (p.Pro189=)
c.265+113537T>G (n.265+113537T>G)
c.348T>G (p.Pro116=)
c.921T>G (p.Pro307=)
n.13951T>G
c.13935T>G (p.Pro4645=)
c.13857T>G (p.Pro4619=)
c.11241T>G (p.Pro3747=)
c.13959T>G (p.Pro4653=)
c.13956T>G (p.Pro4652=)
c.13878T>G (p.Pro4626=)
c.13863T>G (p.Pro4621=)
c.7077T>G (p.Pro2359=)
c.7056T>G (p.Pro2352=)
n.13954T>G
 gnomAD v4
5g.90789747delCA2674571731ADGRV1c.13939del (p.Glu4647LysfsTer?)
c.2893del (p.Glu965LysfsTer?)
n.1206del
c.568del (p.Glu190LysfsTer?)
c.265+113538del (n.265+113538del)
c.349del (p.Glu117LysfsTer?)
c.922del (p.Glu308LysfsTer?)
n.13952del
c.13936del (p.Glu4646LysfsTer?)
c.13858del (p.Glu4620LysfsTer?)
c.11242del (p.Glu3748LysfsTer?)
c.13960del (p.Glu4654LysfsTer?)
c.13957del (p.Glu4653LysfsTer?)
c.13879del (p.Glu4627LysfsTer?)
c.13864del (p.Glu4622LysfsTer?)
c.7078del (p.Glu2360LysfsTer?)
c.7057del (p.Glu2353LysfsTer?)
n.13955del
 gnomAD v4
5g.90789747G>ACA360398687ADGRV1c.13939G>A (p.Glu4647Lys)
c.2893G>A (p.Glu965Lys)
n.1206G>A
c.568G>A (p.Glu190Lys)
c.265+113538G>A (n.265+113538G>A)
c.349G>A (p.Glu117Lys)
c.922G>A (p.Glu308Lys)
n.13952G>A
c.13936G>A (p.Glu4646Lys)
c.13858G>A (p.Glu4620Lys)
c.11242G>A (p.Glu3748Lys)
c.13960G>A (p.Glu4654Lys)
c.13957G>A (p.Glu4653Lys)
c.13879G>A (p.Glu4627Lys)
c.13864G>A (p.Glu4622Lys)
c.7078G>A (p.Glu2360Lys)
c.7057G>A (p.Glu2353Lys)
n.13955G>A
 gnomAD v4
5g.90789747G>CCA360398684ADGRV1c.13939G>C (p.Glu4647Gln)
c.2893G>C (p.Glu965Gln)
n.1206G>C
c.568G>C (p.Glu190Gln)
c.265+113538G>C (n.265+113538G>C)
c.349G>C (p.Glu117Gln)
c.922G>C (p.Glu308Gln)
n.13952G>C
c.13936G>C (p.Glu4646Gln)
c.13858G>C (p.Glu4620Gln)
c.11242G>C (p.Glu3748Gln)
c.13960G>C (p.Glu4654Gln)
c.13957G>C (p.Glu4653Gln)
c.13879G>C (p.Glu4627Gln)
c.13864G>C (p.Glu4622Gln)
c.7078G>C (p.Glu2360Gln)
c.7057G>C (p.Glu2353Gln)
n.13955G>C
5g.90789747G=CA1562901675ADGRV1c.13939G= (p.Glu4647=)
c.2893G= (p.Glu965=)
n.1206G=
c.568G= (p.Glu190=)
c.265+113538G= (n.265+113538G=)
c.349G= (p.Glu117=)
c.922G= (p.Glu308=)
n.13952G=
c.13936G= (p.Glu4646=)
c.13858G= (p.Glu4620=)
c.11242G= (p.Glu3748=)
c.13960G= (p.Glu4654=)
c.13957G= (p.Glu4653=)
c.13879G= (p.Glu4627=)
c.13864G= (p.Glu4622=)
c.7078G= (p.Glu2360=)
c.7057G= (p.Glu2353=)
n.13955G=
5g.90789747G>TCA122810854ADGRV1c.13939G>T (p.Glu4647Ter)
c.2893G>T (p.Glu965Ter)
n.1206G>T
c.568G>T (p.Glu190Ter)
c.265+113538G>T (n.265+113538G>T)
c.349G>T (p.Glu117Ter)
c.922G>T (p.Glu308Ter)
n.13952G>T
c.13936G>T (p.Glu4646Ter)
c.13858G>T (p.Glu4620Ter)
c.11242G>T (p.Glu3748Ter)
c.13960G>T (p.Glu4654Ter)
c.13957G>T (p.Glu4653Ter)
c.13879G>T (p.Glu4627Ter)
c.13864G>T (p.Glu4622Ter)
c.7078G>T (p.Glu2360Ter)
c.7057G>T (p.Glu2353Ter)
n.13955G>T
 dbSNP gnomAD v4
5g.90789748A>CCA360398691ADGRV1c.13940A>C (p.Glu4647Ala)
c.2894A>C (p.Glu965Ala)
n.1207A>C
c.569A>C (p.Glu190Ala)
c.265+113539A>C (n.265+113539A>C)
c.350A>C (p.Glu117Ala)
c.923A>C (p.Glu308Ala)
n.13953A>C
c.13937A>C (p.Glu4646Ala)
c.13859A>C (p.Glu4620Ala)
c.11243A>C (p.Glu3748Ala)
c.13961A>C (p.Glu4654Ala)
c.13958A>C (p.Glu4653Ala)
c.13880A>C (p.Glu4627Ala)
c.13865A>C (p.Glu4622Ala)
c.7079A>C (p.Glu2360Ala)
c.7058A>C (p.Glu2353Ala)
n.13956A>C
5g.90789748A>GCA360398697ADGRV1c.13940A>G (p.Glu4647Gly)
c.2894A>G (p.Glu965Gly)
n.1207A>G
c.569A>G (p.Glu190Gly)
c.265+113539A>G (n.265+113539A>G)
c.350A>G (p.Glu117Gly)
c.923A>G (p.Glu308Gly)
n.13953A>G
c.13937A>G (p.Glu4646Gly)
c.13859A>G (p.Glu4620Gly)
c.11243A>G (p.Glu3748Gly)
c.13961A>G (p.Glu4654Gly)
c.13958A>G (p.Glu4653Gly)
c.13880A>G (p.Glu4627Gly)
c.13865A>G (p.Glu4622Gly)
c.7079A>G (p.Glu2360Gly)
c.7058A>G (p.Glu2353Gly)
n.13956A>G
5g.90789748A>TCA360398694ADGRV1c.13940A>T (p.Glu4647Val)
c.2894A>T (p.Glu965Val)
n.1207A>T
c.569A>T (p.Glu190Val)
c.265+113539A>T (n.265+113539A>T)
c.350A>T (p.Glu117Val)
c.923A>T (p.Glu308Val)
n.13953A>T
c.13937A>T (p.Glu4646Val)
c.13859A>T (p.Glu4620Val)
c.11243A>T (p.Glu3748Val)
c.13961A>T (p.Glu4654Val)
c.13958A>T (p.Glu4653Val)
c.13880A>T (p.Glu4627Val)
c.13865A>T (p.Glu4622Val)
c.7079A>T (p.Glu2360Val)
c.7058A>T (p.Glu2353Val)
n.13956A>T
 gnomAD v4
5g.90789749A>CCA360398700ADGRV1c.13941A>C (p.Glu4647Asp)
c.2895A>C (p.Glu965Asp)
n.1208A>C
c.570A>C (p.Glu190Asp)
c.265+113540A>C (n.265+113540A>C)
c.351A>C (p.Glu117Asp)
c.924A>C (p.Glu308Asp)
n.13954A>C
c.13938A>C (p.Glu4646Asp)
c.13860A>C (p.Glu4620Asp)
c.11244A>C (p.Glu3748Asp)
c.13962A>C (p.Glu4654Asp)
c.13959A>C (p.Glu4653Asp)
c.13881A>C (p.Glu4627Asp)
c.13866A>C (p.Glu4622Asp)
c.7080A>C (p.Glu2360Asp)
c.7059A>C (p.Glu2353Asp)
n.13957A>C
5g.90789749A>GCA445415764ADGRV1c.13941A>G (p.Glu4647=)
c.2895A>G (p.Glu965=)
n.1208A>G
c.570A>G (p.Glu190=)
c.265+113540A>G (n.265+113540A>G)
c.351A>G (p.Glu117=)
c.924A>G (p.Glu308=)
n.13954A>G
c.13938A>G (p.Glu4646=)
c.13860A>G (p.Glu4620=)
c.11244A>G (p.Glu3748=)
c.13962A>G (p.Glu4654=)
c.13959A>G (p.Glu4653=)
c.13881A>G (p.Glu4627=)
c.13866A>G (p.Glu4622=)
c.7080A>G (p.Glu2360=)
c.7059A>G (p.Glu2353=)
n.13957A>G
 ClinVar dbSNP gnomAD v4
5g.90789749A>TCA360398704ADGRV1c.13941A>T (p.Glu4647Asp)
c.2895A>T (p.Glu965Asp)
n.1208A>T
c.570A>T (p.Glu190Asp)
c.265+113540A>T (n.265+113540A>T)
c.351A>T (p.Glu117Asp)
c.924A>T (p.Glu308Asp)
n.13954A>T
c.13938A>T (p.Glu4646Asp)
c.13860A>T (p.Glu4620Asp)
c.11244A>T (p.Glu3748Asp)
c.13962A>T (p.Glu4654Asp)
c.13959A>T (p.Glu4653Asp)
c.13881A>T (p.Glu4627Asp)
c.13866A>T (p.Glu4622Asp)
c.7080A>T (p.Glu2360Asp)
c.7059A>T (p.Glu2353Asp)
n.13957A>T
5g.90789750A=CA1562901676ADGRV1c.13942A= (p.Thr4648=)
c.2896A= (p.Thr966=)
n.1209A=
c.571A= (p.Thr191=)
c.265+113541A= (n.265+113541A=)
c.352A= (p.Thr118=)
c.925A= (p.Thr309=)
n.13955A=
c.13939A= (p.Thr4647=)
c.13861A= (p.Thr4621=)
c.11245A= (p.Thr3749=)
c.13963A= (p.Thr4655=)
c.13960A= (p.Thr4654=)
c.13882A= (p.Thr4628=)
c.13867A= (p.Thr4623=)
c.7081A= (p.Thr2361=)
c.7060A= (p.Thr2354=)
n.13958A=
5g.90789750A>CCA360398708ADGRV1c.13942A>C (p.Thr4648Pro)
c.2896A>C (p.Thr966Pro)
n.1209A>C
c.571A>C (p.Thr191Pro)
c.265+113541A>C (n.265+113541A>C)
c.352A>C (p.Thr118Pro)
c.925A>C (p.Thr309Pro)
n.13955A>C
c.13939A>C (p.Thr4647Pro)
c.13861A>C (p.Thr4621Pro)
c.11245A>C (p.Thr3749Pro)
c.13963A>C (p.Thr4655Pro)
c.13960A>C (p.Thr4654Pro)
c.13882A>C (p.Thr4628Pro)
c.13867A>C (p.Thr4623Pro)
c.7081A>C (p.Thr2361Pro)
c.7060A>C (p.Thr2354Pro)
n.13958A>C
5g.90789750A>GCA360398712ADGRV1c.13942A>G (p.Thr4648Ala)
c.2896A>G (p.Thr966Ala)
n.1209A>G
c.571A>G (p.Thr191Ala)
c.265+113541A>G (n.265+113541A>G)
c.352A>G (p.Thr118Ala)
c.925A>G (p.Thr309Ala)
n.13955A>G
c.13939A>G (p.Thr4647Ala)
c.13861A>G (p.Thr4621Ala)
c.11245A>G (p.Thr3749Ala)
c.13963A>G (p.Thr4655Ala)
c.13960A>G (p.Thr4654Ala)
c.13882A>G (p.Thr4628Ala)
c.13867A>G (p.Thr4623Ala)
c.7081A>G (p.Thr2361Ala)
c.7060A>G (p.Thr2354Ala)
n.13958A>G
 dbSNP gnomAD v2
5g.90789750A>TCA360398715ADGRV1c.13942A>T (p.Thr4648Ser)
c.2896A>T (p.Thr966Ser)
n.1209A>T
c.571A>T (p.Thr191Ser)
c.265+113541A>T (n.265+113541A>T)
c.352A>T (p.Thr118Ser)
c.925A>T (p.Thr309Ser)
n.13955A>T
c.13939A>T (p.Thr4647Ser)
c.13861A>T (p.Thr4621Ser)
c.11245A>T (p.Thr3749Ser)
c.13963A>T (p.Thr4655Ser)
c.13960A>T (p.Thr4654Ser)
c.13882A>T (p.Thr4628Ser)
c.13867A>T (p.Thr4623Ser)
c.7081A>T (p.Thr2361Ser)
c.7060A>T (p.Thr2354Ser)
n.13958A>T
 gnomAD v4
5g.90789751C>ACA360398720ADGRV1c.13943C>A (p.Thr4648Asn)
c.2897C>A (p.Thr966Asn)
n.1210C>A
c.572C>A (p.Thr191Asn)
c.265+113542C>A (n.265+113542C>A)
c.353C>A (p.Thr118Asn)
c.926C>A (p.Thr309Asn)
n.13956C>A
c.13940C>A (p.Thr4647Asn)
c.13862C>A (p.Thr4621Asn)
c.11246C>A (p.Thr3749Asn)
c.13964C>A (p.Thr4655Asn)
c.13961C>A (p.Thr4654Asn)
c.13883C>A (p.Thr4628Asn)
c.13868C>A (p.Thr4623Asn)
c.7082C>A (p.Thr2361Asn)
c.7061C>A (p.Thr2354Asn)
n.13959C>A
 gnomAD v4
5g.90789751C>GCA360398722ADGRV1c.13943C>G (p.Thr4648Ser)
c.2897C>G (p.Thr966Ser)
n.1210C>G
c.572C>G (p.Thr191Ser)
c.265+113542C>G (n.265+113542C>G)
c.353C>G (p.Thr118Ser)
c.926C>G (p.Thr309Ser)
n.13956C>G
c.13940C>G (p.Thr4647Ser)
c.13862C>G (p.Thr4621Ser)
c.11246C>G (p.Thr3749Ser)
c.13964C>G (p.Thr4655Ser)
c.13961C>G (p.Thr4654Ser)
c.13883C>G (p.Thr4628Ser)
c.13868C>G (p.Thr4623Ser)
c.7082C>G (p.Thr2361Ser)
c.7061C>G (p.Thr2354Ser)
n.13959C>G
 gnomAD v4
5g.90789751C>TCA360398725ADGRV1c.13943C>T (p.Thr4648Ile)
c.2897C>T (p.Thr966Ile)
n.1210C>T
c.572C>T (p.Thr191Ile)
c.265+113542C>T (n.265+113542C>T)
c.353C>T (p.Thr118Ile)
c.926C>T (p.Thr309Ile)
n.13956C>T
c.13940C>T (p.Thr4647Ile)
c.13862C>T (p.Thr4621Ile)
c.11246C>T (p.Thr3749Ile)
c.13964C>T (p.Thr4655Ile)
c.13961C>T (p.Thr4654Ile)
c.13883C>T (p.Thr4628Ile)
c.13868C>T (p.Thr4623Ile)
c.7082C>T (p.Thr2361Ile)
c.7061C>T (p.Thr2354Ile)
n.13959C>T
5g.90789752T>ACA445415769ADGRV1c.13944T>A (p.Thr4648=)
c.2898T>A (p.Thr966=)
n.1211T>A
c.573T>A (p.Thr191=)
c.265+113543T>A (n.265+113543T>A)
c.354T>A (p.Thr118=)
c.927T>A (p.Thr309=)
n.13957T>A
c.13941T>A (p.Thr4647=)
c.13863T>A (p.Thr4621=)
c.11247T>A (p.Thr3749=)
c.13965T>A (p.Thr4655=)
c.13962T>A (p.Thr4654=)
c.13884T>A (p.Thr4628=)
c.13869T>A (p.Thr4623=)
c.7083T>A (p.Thr2361=)
c.7062T>A (p.Thr2354=)
n.13960T>A
5g.90789752T>CCA445415770ADGRV1c.13944T>C (p.Thr4648=)
c.2898T>C (p.Thr966=)
n.1211T>C
c.573T>C (p.Thr191=)
c.265+113543T>C (n.265+113543T>C)
c.354T>C (p.Thr118=)
c.927T>C (p.Thr309=)
n.13957T>C
c.13941T>C (p.Thr4647=)
c.13863T>C (p.Thr4621=)
c.11247T>C (p.Thr3749=)
c.13965T>C (p.Thr4655=)
c.13962T>C (p.Thr4654=)
c.13884T>C (p.Thr4628=)
c.13869T>C (p.Thr4623=)
c.7083T>C (p.Thr2361=)
c.7062T>C (p.Thr2354=)
n.13960T>C
 gnomAD v4
5g.90789752T>GCA445415771ADGRV1c.13944T>G (p.Thr4648=)
c.2898T>G (p.Thr966=)
n.1211T>G
c.573T>G (p.Thr191=)
c.265+113543T>G (n.265+113543T>G)
c.354T>G (p.Thr118=)
c.927T>G (p.Thr309=)
n.13957T>G
c.13941T>G (p.Thr4647=)
c.13863T>G (p.Thr4621=)
c.11247T>G (p.Thr3749=)
c.13965T>G (p.Thr4655=)
c.13962T>G (p.Thr4654=)
c.13884T>G (p.Thr4628=)
c.13869T>G (p.Thr4623=)
c.7083T>G (p.Thr2361=)
c.7062T>G (p.Thr2354=)
n.13960T>G
 gnomAD v4
5g.90789754delCA2674571732ADGRV1c.13946del (p.Leu4649CysfsTer?)
c.2900del (p.Leu967CysfsTer?)
n.1213del
c.575del (p.Leu192CysfsTer?)
c.265+113545del (n.265+113545del)
c.356del (p.Leu119CysfsTer?)
c.929del (p.Leu310CysfsTer?)
n.13959del
c.13943del (p.Leu4648CysfsTer?)
c.13865del (p.Leu4622CysfsTer?)
c.11249del (p.Leu3750CysfsTer?)
c.13967del (p.Leu4656CysfsTer?)
c.13964del (p.Leu4655CysfsTer?)
c.13886del (p.Leu4629CysfsTer?)
c.13871del (p.Leu4624CysfsTer?)
c.7085del (p.Leu2362CysfsTer?)
c.7064del (p.Leu2355CysfsTer?)
n.13962del
 gnomAD v4
5g.90789753_90789754delCA2674571733ADGRV1c.13945_13946del (p.Leu4649ValfsTer2)
c.2899_2900del (p.Leu967ValfsTer2)
n.1212_1213del
c.574_575del (p.Leu192ValfsTer2)
c.265+113544_265+113545del (n.265+113544_265+113545del)
c.355_356del (p.Leu119ValfsTer2)
c.928_929del (p.Leu310ValfsTer2)
n.13958_13959del
c.13942_13943del (p.Leu4648ValfsTer2)
c.13864_13865del (p.Leu4622ValfsTer2)
c.11248_11249del (p.Leu3750ValfsTer2)
c.13966_13967del (p.Leu4656ValfsTer2)
c.13963_13964del (p.Leu4655ValfsTer2)
c.13885_13886del (p.Leu4629ValfsTer2)
c.13870_13871del (p.Leu4624ValfsTer2)
c.7084_7085del (p.Leu2362ValfsTer2)
c.7063_7064del (p.Leu2355ValfsTer2)
n.13961_13962del
 gnomAD v4
5g.90789753T>ACA360398728ADGRV1c.13945T>A (p.Leu4649Met)
c.2899T>A (p.Leu967Met)
n.1212T>A
c.574T>A (p.Leu192Met)
c.265+113544T>A (n.265+113544T>A)
c.355T>A (p.Leu119Met)
c.928T>A (p.Leu310Met)
n.13958T>A
c.13942T>A (p.Leu4648Met)
c.13864T>A (p.Leu4622Met)
c.11248T>A (p.Leu3750Met)
c.13966T>A (p.Leu4656Met)
c.13963T>A (p.Leu4655Met)
c.13885T>A (p.Leu4629Met)
c.13870T>A (p.Leu4624Met)
c.7084T>A (p.Leu2362Met)
c.7063T>A (p.Leu2355Met)
n.13961T>A
 gnomAD v4
5g.90789753T>CCA445415772ADGRV1c.13945T>C (p.Leu4649=)
c.2899T>C (p.Leu967=)
n.1212T>C
c.574T>C (p.Leu192=)
c.265+113544T>C (n.265+113544T>C)
c.355T>C (p.Leu119=)
c.928T>C (p.Leu310=)
n.13958T>C
c.13942T>C (p.Leu4648=)
c.13864T>C (p.Leu4622=)
c.11248T>C (p.Leu3750=)
c.13966T>C (p.Leu4656=)
c.13963T>C (p.Leu4655=)
c.13885T>C (p.Leu4629=)
c.13870T>C (p.Leu4624=)
c.7084T>C (p.Leu2362=)
c.7063T>C (p.Leu2355=)
n.13961T>C
5g.90789753T>GCA360398731ADGRV1c.13945T>G (p.Leu4649Val)
c.2899T>G (p.Leu967Val)
n.1212T>G
c.574T>G (p.Leu192Val)
c.265+113544T>G (n.265+113544T>G)
c.355T>G (p.Leu119Val)
c.928T>G (p.Leu310Val)
n.13958T>G
c.13942T>G (p.Leu4648Val)
c.13864T>G (p.Leu4622Val)
c.11248T>G (p.Leu3750Val)
c.13966T>G (p.Leu4656Val)
c.13963T>G (p.Leu4655Val)
c.13885T>G (p.Leu4629Val)
c.13870T>G (p.Leu4624Val)
c.7084T>G (p.Leu2362Val)
c.7063T>G (p.Leu2355Val)
n.13961T>G
5g.90789754T>ACA360398737ADGRV1c.13946T>A (p.Leu4649Ter)
c.2900T>A (p.Leu967Ter)
n.1213T>A
c.575T>A (p.Leu192Ter)
c.265+113545T>A (n.265+113545T>A)
c.356T>A (p.Leu119Ter)
c.929T>A (p.Leu310Ter)
n.13959T>A
c.13943T>A (p.Leu4648Ter)
c.13865T>A (p.Leu4622Ter)
c.11249T>A (p.Leu3750Ter)
c.13967T>A (p.Leu4656Ter)
c.13964T>A (p.Leu4655Ter)
c.13886T>A (p.Leu4629Ter)
c.13871T>A (p.Leu4624Ter)
c.7085T>A (p.Leu2362Ter)
c.7064T>A (p.Leu2355Ter)
n.13962T>A
 gnomAD v4
5g.90789754T>CCA360398739ADGRV1c.13946T>C (p.Leu4649Ser)
c.2900T>C (p.Leu967Ser)
n.1213T>C
c.575T>C (p.Leu192Ser)
c.265+113545T>C (n.265+113545T>C)
c.356T>C (p.Leu119Ser)
c.929T>C (p.Leu310Ser)
n.13959T>C
c.13943T>C (p.Leu4648Ser)
c.13865T>C (p.Leu4622Ser)
c.11249T>C (p.Leu3750Ser)
c.13967T>C (p.Leu4656Ser)
c.13964T>C (p.Leu4655Ser)
c.13886T>C (p.Leu4629Ser)
c.13871T>C (p.Leu4624Ser)
c.7085T>C (p.Leu2362Ser)
c.7064T>C (p.Leu2355Ser)
n.13962T>C
 dbSNP gnomAD v2 gnomAD v4
5g.90789754T>GCA360398742ADGRV1c.13946T>G (p.Leu4649Trp)
c.2900T>G (p.Leu967Trp)
n.1213T>G
c.575T>G (p.Leu192Trp)
c.265+113545T>G (n.265+113545T>G)
c.356T>G (p.Leu119Trp)
c.929T>G (p.Leu310Trp)
n.13959T>G
c.13943T>G (p.Leu4648Trp)
c.13865T>G (p.Leu4622Trp)
c.11249T>G (p.Leu3750Trp)
c.13967T>G (p.Leu4656Trp)
c.13964T>G (p.Leu4655Trp)
c.13886T>G (p.Leu4629Trp)
c.13871T>G (p.Leu4624Trp)
c.7085T>G (p.Leu2362Trp)
c.7064T>G (p.Leu2355Trp)
n.13962T>G
 ClinVar
5g.90789754T=CA1562901677ADGRV1c.13946T= (p.Leu4649=)
c.2900T= (p.Leu967=)
n.1213T=
c.575T= (p.Leu192=)
c.265+113545T= (n.265+113545T=)
c.356T= (p.Leu119=)
c.929T= (p.Leu310=)
n.13959T=
c.13943T= (p.Leu4648=)
c.13865T= (p.Leu4622=)
c.11249T= (p.Leu3750=)
c.13967T= (p.Leu4656=)
c.13964T= (p.Leu4655=)
c.13886T= (p.Leu4629=)
c.13871T= (p.Leu4624=)
c.7085T= (p.Leu2362=)
c.7064T= (p.Leu2355=)
n.13962T=
5g.90789755G>ACA445415777ADGRV1c.13947G>A (p.Leu4649=)
c.2901G>A (p.Leu967=)
n.1214G>A
c.576G>A (p.Leu192=)
c.265+113546G>A (n.265+113546G>A)
c.357G>A (p.Leu119=)
c.930G>A (p.Leu310=)
n.13960G>A
c.13944G>A (p.Leu4648=)
c.13866G>A (p.Leu4622=)
c.11250G>A (p.Leu3750=)
c.13968G>A (p.Leu4656=)
c.13965G>A (p.Leu4655=)
c.13887G>A (p.Leu4629=)
c.13872G>A (p.Leu4624=)
c.7086G>A (p.Leu2362=)
c.7065G>A (p.Leu2355=)
n.13963G>A
 gnomAD v4
5g.90789755G>CCA360398749ADGRV1c.13947G>C (p.Leu4649Phe)
c.2901G>C (p.Leu967Phe)
n.1214G>C
c.576G>C (p.Leu192Phe)
c.265+113546G>C (n.265+113546G>C)
c.357G>C (p.Leu119Phe)
c.930G>C (p.Leu310Phe)
n.13960G>C
c.13944G>C (p.Leu4648Phe)
c.13866G>C (p.Leu4622Phe)
c.11250G>C (p.Leu3750Phe)
c.13968G>C (p.Leu4656Phe)
c.13965G>C (p.Leu4655Phe)
c.13887G>C (p.Leu4629Phe)
c.13872G>C (p.Leu4624Phe)
c.7086G>C (p.Leu2362Phe)
c.7065G>C (p.Leu2355Phe)
n.13963G>C
 gnomAD v4
5g.90789755G>TCA360398745ADGRV1c.13947G>T (p.Leu4649Phe)
c.2901G>T (p.Leu967Phe)
n.1214G>T
c.576G>T (p.Leu192Phe)
c.265+113546G>T (n.265+113546G>T)
c.357G>T (p.Leu119Phe)
c.930G>T (p.Leu310Phe)
n.13960G>T
c.13944G>T (p.Leu4648Phe)
c.13866G>T (p.Leu4622Phe)
c.11250G>T (p.Leu3750Phe)
c.13968G>T (p.Leu4656Phe)
c.13965G>T (p.Leu4655Phe)
c.13887G>T (p.Leu4629Phe)
c.13872G>T (p.Leu4624Phe)
c.7086G>T (p.Leu2362Phe)
c.7065G>T (p.Leu2355Phe)
n.13963G>T
 gnomAD v4
5g.90789756T>ACA360398755ADGRV1c.13948T>A (p.Ser4650Thr)
c.2902T>A (p.Ser968Thr)
n.1215T>A
c.577T>A (p.Ser193Thr)
c.265+113547T>A (n.265+113547T>A)
c.358T>A (p.Ser120Thr)
c.931T>A (p.Ser311Thr)
n.13961T>A
c.13945T>A (p.Ser4649Thr)
c.13867T>A (p.Ser4623Thr)
c.11251T>A (p.Ser3751Thr)
c.13969T>A (p.Ser4657Thr)
c.13966T>A (p.Ser4656Thr)
c.13888T>A (p.Ser4630Thr)
c.13873T>A (p.Ser4625Thr)
c.7087T>A (p.Ser2363Thr)
c.7066T>A (p.Ser2356Thr)
n.13964T>A
5g.90789756T>CCA360398757ADGRV1c.13948T>C (p.Ser4650Pro)
c.2902T>C (p.Ser968Pro)
n.1215T>C
c.577T>C (p.Ser193Pro)
c.265+113547T>C (n.265+113547T>C)
c.358T>C (p.Ser120Pro)
c.931T>C (p.Ser311Pro)
n.13961T>C
c.13945T>C (p.Ser4649Pro)
c.13867T>C (p.Ser4623Pro)
c.11251T>C (p.Ser3751Pro)
c.13969T>C (p.Ser4657Pro)
c.13966T>C (p.Ser4656Pro)
c.13888T>C (p.Ser4630Pro)
c.13873T>C (p.Ser4625Pro)
c.7087T>C (p.Ser2363Pro)
c.7066T>C (p.Ser2356Pro)
n.13964T>C
 gnomAD v4
5g.90789756T>GCA360398760ADGRV1c.13948T>G (p.Ser4650Ala)
c.2902T>G (p.Ser968Ala)
n.1215T>G
c.577T>G (p.Ser193Ala)
c.265+113547T>G (n.265+113547T>G)
c.358T>G (p.Ser120Ala)
c.931T>G (p.Ser311Ala)
n.13961T>G
c.13945T>G (p.Ser4649Ala)
c.13867T>G (p.Ser4623Ala)
c.11251T>G (p.Ser3751Ala)
c.13969T>G (p.Ser4657Ala)
c.13966T>G (p.Ser4656Ala)
c.13888T>G (p.Ser4630Ala)
c.13873T>G (p.Ser4625Ala)
c.7087T>G (p.Ser2363Ala)
c.7066T>G (p.Ser2356Ala)
n.13964T>G
5g.90789757C>ACA360398763ADGRV1c.13949C>A (p.Ser4650Tyr)
c.2903C>A (p.Ser968Tyr)
n.1216C>A
c.578C>A (p.Ser193Tyr)
c.265+113548C>A (n.265+113548C>A)
c.359C>A (p.Ser120Tyr)
c.932C>A (p.Ser311Tyr)
n.13962C>A
c.13946C>A (p.Ser4649Tyr)
c.13868C>A (p.Ser4623Tyr)
c.11252C>A (p.Ser3751Tyr)
c.13970C>A (p.Ser4657Tyr)
c.13967C>A (p.Ser4656Tyr)
c.13889C>A (p.Ser4630Tyr)
c.13874C>A (p.Ser4625Tyr)
c.7088C>A (p.Ser2363Tyr)
c.7067C>A (p.Ser2356Tyr)
n.13965C>A
 gnomAD v4
5g.90789757C=CA1562901678ADGRV1c.13949C= (p.Ser4650=)
c.2903C= (p.Ser968=)
n.1216C=
c.578C= (p.Ser193=)
c.265+113548C= (n.265+113548C=)
c.359C= (p.Ser120=)
c.932C= (p.Ser311=)
n.13962C=
c.13946C= (p.Ser4649=)
c.13868C= (p.Ser4623=)
c.11252C= (p.Ser3751=)
c.13970C= (p.Ser4657=)
c.13967C= (p.Ser4656=)
c.13889C= (p.Ser4630=)
c.13874C= (p.Ser4625=)
c.7088C= (p.Ser2363=)
c.7067C= (p.Ser2356=)
n.13965C=
5g.90789757C>GCA122810856ADGRV1c.13949C>G (p.Ser4650Cys)
c.2903C>G (p.Ser968Cys)
n.1216C>G
c.578C>G (p.Ser193Cys)
c.265+113548C>G (n.265+113548C>G)
c.359C>G (p.Ser120Cys)
c.932C>G (p.Ser311Cys)
n.13962C>G
c.13946C>G (p.Ser4649Cys)
c.13868C>G (p.Ser4623Cys)
c.11252C>G (p.Ser3751Cys)
c.13970C>G (p.Ser4657Cys)
c.13967C>G (p.Ser4656Cys)
c.13889C>G (p.Ser4630Cys)
c.13874C>G (p.Ser4625Cys)
c.7088C>G (p.Ser2363Cys)
c.7067C>G (p.Ser2356Cys)
n.13965C>G
 dbSNP gnomAD v4
5g.90789757C>TCA360398770ADGRV1c.13949C>T (p.Ser4650Phe)
c.2903C>T (p.Ser968Phe)
n.1216C>T
c.578C>T (p.Ser193Phe)
c.265+113548C>T (n.265+113548C>T)
c.359C>T (p.Ser120Phe)
c.932C>T (p.Ser311Phe)
n.13962C>T
c.13946C>T (p.Ser4649Phe)
c.13868C>T (p.Ser4623Phe)
c.11252C>T (p.Ser3751Phe)
c.13970C>T (p.Ser4657Phe)
c.13967C>T (p.Ser4656Phe)
c.13889C>T (p.Ser4630Phe)
c.13874C>T (p.Ser4625Phe)
c.7088C>T (p.Ser2363Phe)
c.7067C>T (p.Ser2356Phe)
n.13965C>T
 gnomAD v4
5g.90789758T>ACA445415782ADGRV1c.13950T>A (p.Ser4650=)
c.2904T>A (p.Ser968=)
n.1217T>A
c.579T>A (p.Ser193=)
c.265+113549T>A (n.265+113549T>A)
c.360T>A (p.Ser120=)
c.933T>A (p.Ser311=)
n.13963T>A
c.13947T>A (p.Ser4649=)
c.13869T>A (p.Ser4623=)
c.11253T>A (p.Ser3751=)
c.13971T>A (p.Ser4657=)
c.13968T>A (p.Ser4656=)
c.13890T>A (p.Ser4630=)
c.13875T>A (p.Ser4625=)
c.7089T>A (p.Ser2363=)
c.7068T>A (p.Ser2356=)
n.13966T>A
5g.90789758T>CCA445415783ADGRV1c.13950T>C (p.Ser4650=)
c.2904T>C (p.Ser968=)
n.1217T>C
c.579T>C (p.Ser193=)
c.265+113549T>C (n.265+113549T>C)
c.360T>C (p.Ser120=)
c.933T>C (p.Ser311=)
n.13963T>C
c.13947T>C (p.Ser4649=)
c.13869T>C (p.Ser4623=)
c.11253T>C (p.Ser3751=)
c.13971T>C (p.Ser4657=)
c.13968T>C (p.Ser4656=)
c.13890T>C (p.Ser4630=)
c.13875T>C (p.Ser4625=)
c.7089T>C (p.Ser2363=)
c.7068T>C (p.Ser2356=)
n.13966T>C
5g.90789758T>GCA445415784ADGRV1c.13950T>G (p.Ser4650=)
c.2904T>G (p.Ser968=)
n.1217T>G
c.579T>G (p.Ser193=)
c.265+113549T>G (n.265+113549T>G)
c.360T>G (p.Ser120=)
c.933T>G (p.Ser311=)
n.13963T>G
c.13947T>G (p.Ser4649=)
c.13869T>G (p.Ser4623=)
c.11253T>G (p.Ser3751=)
c.13971T>G (p.Ser4657=)
c.13968T>G (p.Ser4656=)
c.13890T>G (p.Ser4630=)
c.13875T>G (p.Ser4625=)
c.7089T>G (p.Ser2363=)
c.7068T>G (p.Ser2356=)
n.13966T>G
5g.90789759A=CA1562901679ADGRV1c.13951A= (p.Lys4651=)
c.2905A= (p.Lys969=)
n.1218A=
c.580A= (p.Lys194=)
c.265+113550A= (n.265+113550A=)
c.361A= (p.Lys121=)
c.934A= (p.Lys312=)
n.13964A=
c.13948A= (p.Lys4650=)
c.13870A= (p.Lys4624=)
c.11254A= (p.Lys3752=)
c.13972A= (p.Lys4658=)
c.13969A= (p.Lys4657=)
c.13891A= (p.Lys4631=)
c.13876A= (p.Lys4626=)
c.7090A= (p.Lys2364=)
c.7069A= (p.Lys2357=)
n.13967A=
5g.90789759A>CCA360398773ADGRV1c.13951A>C (p.Lys4651Gln)
c.2905A>C (p.Lys969Gln)
n.1218A>C
c.580A>C (p.Lys194Gln)
c.265+113550A>C (n.265+113550A>C)
c.361A>C (p.Lys121Gln)
c.934A>C (p.Lys312Gln)
n.13964A>C
c.13948A>C (p.Lys4650Gln)
c.13870A>C (p.Lys4624Gln)
c.11254A>C (p.Lys3752Gln)
c.13972A>C (p.Lys4658Gln)
c.13969A>C (p.Lys4657Gln)
c.13891A>C (p.Lys4631Gln)
c.13876A>C (p.Lys4626Gln)
c.7090A>C (p.Lys2364Gln)
c.7069A>C (p.Lys2357Gln)
n.13967A>C
5g.90789759A>GCA3341645ADGRV1c.13951A>G (p.Lys4651Glu)
c.2905A>G (p.Lys969Glu)
n.1218A>G
c.580A>G (p.Lys194Glu)
c.265+113550A>G (n.265+113550A>G)
c.361A>G (p.Lys121Glu)
c.934A>G (p.Lys312Glu)
n.13964A>G
c.13948A>G (p.Lys4650Glu)
c.13870A>G (p.Lys4624Glu)
c.11254A>G (p.Lys3752Glu)
c.13972A>G (p.Lys4658Glu)
c.13969A>G (p.Lys4657Glu)
c.13891A>G (p.Lys4631Glu)
c.13876A>G (p.Lys4626Glu)
c.7090A>G (p.Lys2364Glu)
c.7069A>G (p.Lys2357Glu)
n.13967A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90789759A>TCA360398777ADGRV1c.13951A>T (p.Lys4651Ter)
c.2905A>T (p.Lys969Ter)
n.1218A>T
c.580A>T (p.Lys194Ter)
c.265+113550A>T (n.265+113550A>T)
c.361A>T (p.Lys121Ter)
c.934A>T (p.Lys312Ter)
n.13964A>T
c.13948A>T (p.Lys4650Ter)
c.13870A>T (p.Lys4624Ter)
c.11254A>T (p.Lys3752Ter)
c.13972A>T (p.Lys4658Ter)
c.13969A>T (p.Lys4657Ter)
c.13891A>T (p.Lys4631Ter)
c.13876A>T (p.Lys4626Ter)
c.7090A>T (p.Lys2364Ter)
c.7069A>T (p.Lys2357Ter)
n.13967A>T
5g.90789760delCA2674571734ADGRV1c.13952del (p.Lys4651ArgfsTer?)
c.2906del (p.Lys969ArgfsTer?)
n.1219del
c.581del (p.Lys194ArgfsTer?)
c.265+113551del (n.265+113551del)
c.362del (p.Lys121ArgfsTer?)
c.935del (p.Lys312ArgfsTer?)
n.13965del
c.13949del (p.Lys4650ArgfsTer?)
c.13871del (p.Lys4624ArgfsTer?)
c.11255del (p.Lys3752ArgfsTer?)
c.13973del (p.Lys4658ArgfsTer?)
c.13970del (p.Lys4657ArgfsTer?)
c.13892del (p.Lys4631ArgfsTer?)
c.13877del (p.Lys4626ArgfsTer?)
c.7091del (p.Lys2364ArgfsTer?)
c.7070del (p.Lys2357ArgfsTer?)
n.13968del
 gnomAD v4
5g.90789760A=CA1562901680ADGRV1c.13952A= (p.Lys4651=)
c.2906A= (p.Lys969=)
n.1219A=
c.581A= (p.Lys194=)
c.265+113551A= (n.265+113551A=)
c.362A= (p.Lys121=)
c.935A= (p.Lys312=)
n.13965A=
c.13949A= (p.Lys4650=)
c.13871A= (p.Lys4624=)
c.11255A= (p.Lys3752=)
c.13973A= (p.Lys4658=)
c.13970A= (p.Lys4657=)
c.13892A= (p.Lys4631=)
c.13877A= (p.Lys4626=)
c.7091A= (p.Lys2364=)
c.7070A= (p.Lys2357=)
n.13968A=
5g.90789760A>CCA360398781ADGRV1c.13952A>C (p.Lys4651Thr)
c.2906A>C (p.Lys969Thr)
n.1219A>C
c.581A>C (p.Lys194Thr)
c.265+113551A>C (n.265+113551A>C)
c.362A>C (p.Lys121Thr)
c.935A>C (p.Lys312Thr)
n.13965A>C
c.13949A>C (p.Lys4650Thr)
c.13871A>C (p.Lys4624Thr)
c.11255A>C (p.Lys3752Thr)
c.13973A>C (p.Lys4658Thr)
c.13970A>C (p.Lys4657Thr)
c.13892A>C (p.Lys4631Thr)
c.13877A>C (p.Lys4626Thr)
c.7091A>C (p.Lys2364Thr)
c.7070A>C (p.Lys2357Thr)
n.13968A>C
5g.90789760A>GCA3341646ADGRV1c.13952A>G (p.Lys4651Arg)
c.2906A>G (p.Lys969Arg)
n.1219A>G
c.581A>G (p.Lys194Arg)
c.265+113551A>G (n.265+113551A>G)
c.362A>G (p.Lys121Arg)
c.935A>G (p.Lys312Arg)
n.13965A>G
c.13949A>G (p.Lys4650Arg)
c.13871A>G (p.Lys4624Arg)
c.11255A>G (p.Lys3752Arg)
c.13973A>G (p.Lys4658Arg)
c.13970A>G (p.Lys4657Arg)
c.13892A>G (p.Lys4631Arg)
c.13877A>G (p.Lys4626Arg)
c.7091A>G (p.Lys2364Arg)
c.7070A>G (p.Lys2357Arg)
n.13968A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90789760A>TCA360398786ADGRV1c.13952A>T (p.Lys4651Met)
c.2906A>T (p.Lys969Met)
n.1219A>T
c.581A>T (p.Lys194Met)
c.265+113551A>T (n.265+113551A>T)
c.362A>T (p.Lys121Met)
c.935A>T (p.Lys312Met)
n.13965A>T
c.13949A>T (p.Lys4650Met)
c.13871A>T (p.Lys4624Met)
c.11255A>T (p.Lys3752Met)
c.13973A>T (p.Lys4658Met)
c.13970A>T (p.Lys4657Met)
c.13892A>T (p.Lys4631Met)
c.13877A>T (p.Lys4626Met)
c.7091A>T (p.Lys2364Met)
c.7070A>T (p.Lys2357Met)
n.13968A>T
 gnomAD v4
5g.90789761G>ACA445415793ADGRV1c.13953G>A (p.Lys4651=)
c.2907G>A (p.Lys969=)
n.1220G>A
c.582G>A (p.Lys194=)
c.265+113552G>A (n.265+113552G>A)
c.363G>A (p.Lys121=)
c.936G>A (p.Lys312=)
n.13966G>A
c.13950G>A (p.Lys4650=)
c.13872G>A (p.Lys4624=)
c.11256G>A (p.Lys3752=)
c.13974G>A (p.Lys4658=)
c.13971G>A (p.Lys4657=)
c.13893G>A (p.Lys4631=)
c.13878G>A (p.Lys4626=)
c.7092G>A (p.Lys2364=)
c.7071G>A (p.Lys2357=)
n.13969G>A
5g.90789761G>CCA360398790ADGRV1c.13953G>C (p.Lys4651Asn)
c.2907G>C (p.Lys969Asn)
n.1220G>C
c.582G>C (p.Lys194Asn)
c.265+113552G>C (n.265+113552G>C)
c.363G>C (p.Lys121Asn)
c.936G>C (p.Lys312Asn)
n.13966G>C
c.13950G>C (p.Lys4650Asn)
c.13872G>C (p.Lys4624Asn)
c.11256G>C (p.Lys3752Asn)
c.13974G>C (p.Lys4658Asn)
c.13971G>C (p.Lys4657Asn)
c.13893G>C (p.Lys4631Asn)
c.13878G>C (p.Lys4626Asn)
c.7092G>C (p.Lys2364Asn)
c.7071G>C (p.Lys2357Asn)
n.13969G>C
5g.90789761G>TCA360398789ADGRV1c.13953G>T (p.Lys4651Asn)
c.2907G>T (p.Lys969Asn)
n.1220G>T
c.582G>T (p.Lys194Asn)
c.265+113552G>T (n.265+113552G>T)
c.363G>T (p.Lys121Asn)
c.936G>T (p.Lys312Asn)
n.13966G>T
c.13950G>T (p.Lys4650Asn)
c.13872G>T (p.Lys4624Asn)
c.11256G>T (p.Lys3752Asn)
c.13974G>T (p.Lys4658Asn)
c.13971G>T (p.Lys4657Asn)
c.13893G>T (p.Lys4631Asn)
c.13878G>T (p.Lys4626Asn)
c.7092G>T (p.Lys2364Asn)
c.7071G>T (p.Lys2357Asn)
n.13969G>T
 gnomAD v4
5g.90789761_90789762delinsGACA1562901681ADGRV1c.13953_13954delinsGA (p.Lys4651=)
c.2907_2908delinsGA (p.Lys969=)
n.1220_1221delinsGA
c.582_583delinsGA (p.Lys194=)
c.265+113552_265+113553delinsGA (n.265+113552_265+113553delinsGA)
c.363_364delinsGA (p.Lys121=)
c.936_937delinsGA (p.Lys312=)
n.13966_13967delinsGA
c.13950_13951delinsGA (p.Lys4650=)
c.13872_13873delinsGA (p.Lys4624=)
c.11256_11257delinsGA (p.Lys3752=)
c.13974_13975delinsGA (p.Lys4658=)
c.13971_13972delinsGA (p.Lys4657=)
c.13893_13894delinsGA (p.Lys4631=)
c.13878_13879delinsGA (p.Lys4626=)
c.7092_7093delinsGA (p.Lys2364=)
c.7071_7072delinsGA (p.Lys2357=)
n.13969_13970delinsGA
5g.90789762A>CCA360398792ADGRV1c.13954A>C (p.Lys4652Gln)
c.2908A>C (p.Lys970Gln)
n.1221A>C
c.583A>C (p.Lys195Gln)
c.265+113553A>C (n.265+113553A>C)
c.364A>C (p.Lys122Gln)
c.937A>C (p.Lys313Gln)
n.13967A>C
c.13951A>C (p.Lys4651Gln)
c.13873A>C (p.Lys4625Gln)
c.11257A>C (p.Lys3753Gln)
c.13975A>C (p.Lys4659Gln)
c.13972A>C (p.Lys4658Gln)
c.13894A>C (p.Lys4632Gln)
c.13879A>C (p.Lys4627Gln)
c.7093A>C (p.Lys2365Gln)
c.7072A>C (p.Lys2358Gln)
n.13970A>C
5g.90789762A>GCA360398795ADGRV1c.13954A>G (p.Lys4652Glu)
c.2908A>G (p.Lys970Glu)
n.1221A>G
c.583A>G (p.Lys195Glu)
c.265+113553A>G (n.265+113553A>G)
c.364A>G (p.Lys122Glu)
c.937A>G (p.Lys313Glu)
n.13967A>G
c.13951A>G (p.Lys4651Glu)
c.13873A>G (p.Lys4625Glu)
c.11257A>G (p.Lys3753Glu)
c.13975A>G (p.Lys4659Glu)
c.13972A>G (p.Lys4658Glu)
c.13894A>G (p.Lys4632Glu)
c.13879A>G (p.Lys4627Glu)
c.7093A>G (p.Lys2365Glu)
c.7072A>G (p.Lys2358Glu)
n.13970A>G
5g.90789762A>TCA360398797ADGRV1c.13954A>T (p.Lys4652Ter)
c.2908A>T (p.Lys970Ter)
n.1221A>T
c.583A>T (p.Lys195Ter)
c.265+113553A>T (n.265+113553A>T)
c.364A>T (p.Lys122Ter)
c.937A>T (p.Lys313Ter)
n.13967A>T
c.13951A>T (p.Lys4651Ter)
c.13873A>T (p.Lys4625Ter)
c.11257A>T (p.Lys3753Ter)
c.13975A>T (p.Lys4659Ter)
c.13972A>T (p.Lys4658Ter)
c.13894A>T (p.Lys4632Ter)
c.13879A>T (p.Lys4627Ter)
c.7093A>T (p.Lys2365Ter)
c.7072A>T (p.Lys2358Ter)
n.13970A>T
5g.90789763delCA560908602ADGRV1c.13955del (p.Lys4652ArgfsTer?)
c.2909del (p.Lys970ArgfsTer?)
n.1222del
c.584del (p.Lys195ArgfsTer?)
c.265+113554del (n.265+113554del)
c.365del (p.Lys122ArgfsTer?)
c.938del (p.Lys313ArgfsTer?)
n.13968del
c.13952del (p.Lys4651ArgfsTer?)
c.13874del (p.Lys4625ArgfsTer?)
c.11258del (p.Lys3753ArgfsTer?)
c.13976del (p.Lys4659ArgfsTer?)
c.13973del (p.Lys4658ArgfsTer?)
c.13895del (p.Lys4632ArgfsTer?)
c.13880del (p.Lys4627ArgfsTer?)
c.7094del (p.Lys2365ArgfsTer?)
c.7073del (p.Lys2358ArgfsTer?)
n.13971del
 dbSNP gnomAD v2 gnomAD v4
5g.90789763A=CA1562901682ADGRV1c.13955A= (p.Lys4652=)
c.2909A= (p.Lys970=)
n.1222A=
c.584A= (p.Lys195=)
c.265+113554A= (n.265+113554A=)
c.365A= (p.Lys122=)
c.938A= (p.Lys313=)
n.13968A=
c.13952A= (p.Lys4651=)
c.13874A= (p.Lys4625=)
c.11258A= (p.Lys3753=)
c.13976A= (p.Lys4659=)
c.13973A= (p.Lys4658=)
c.13895A= (p.Lys4632=)
c.13880A= (p.Lys4627=)
c.7094A= (p.Lys2365=)
c.7073A= (p.Lys2358=)
n.13971A=
5g.90789763A>CCA360398802ADGRV1c.13955A>C (p.Lys4652Thr)
c.2909A>C (p.Lys970Thr)
n.1222A>C
c.584A>C (p.Lys195Thr)
c.265+113554A>C (n.265+113554A>C)
c.365A>C (p.Lys122Thr)
c.938A>C (p.Lys313Thr)
n.13968A>C
c.13952A>C (p.Lys4651Thr)
c.13874A>C (p.Lys4625Thr)
c.11258A>C (p.Lys3753Thr)
c.13976A>C (p.Lys4659Thr)
c.13973A>C (p.Lys4658Thr)
c.13895A>C (p.Lys4632Thr)
c.13880A>C (p.Lys4627Thr)
c.7094A>C (p.Lys2365Thr)
c.7073A>C (p.Lys2358Thr)
n.13971A>C
5g.90789763A>GCA360398804ADGRV1c.13955A>G (p.Lys4652Arg)
c.2909A>G (p.Lys970Arg)
n.1222A>G
c.584A>G (p.Lys195Arg)
c.265+113554A>G (n.265+113554A>G)
c.365A>G (p.Lys122Arg)
c.938A>G (p.Lys313Arg)
n.13968A>G
c.13952A>G (p.Lys4651Arg)
c.13874A>G (p.Lys4625Arg)
c.11258A>G (p.Lys3753Arg)
c.13976A>G (p.Lys4659Arg)
c.13973A>G (p.Lys4658Arg)
c.13895A>G (p.Lys4632Arg)
c.13880A>G (p.Lys4627Arg)
c.7094A>G (p.Lys2365Arg)
c.7073A>G (p.Lys2358Arg)
n.13971A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90789763A>TCA360398806ADGRV1c.13955A>T (p.Lys4652Met)
c.2909A>T (p.Lys970Met)
n.1222A>T
c.584A>T (p.Lys195Met)
c.265+113554A>T (n.265+113554A>T)
c.365A>T (p.Lys122Met)
c.938A>T (p.Lys313Met)
n.13968A>T
c.13952A>T (p.Lys4651Met)
c.13874A>T (p.Lys4625Met)
c.11258A>T (p.Lys3753Met)
c.13976A>T (p.Lys4659Met)
c.13973A>T (p.Lys4658Met)
c.13895A>T (p.Lys4632Met)
c.13880A>T (p.Lys4627Met)
c.7094A>T (p.Lys2365Met)
c.7073A>T (p.Lys2358Met)
n.13971A>T
5g.90789764G>ACA445415796ADGRV1c.13956G>A (p.Lys4652=)
c.2910G>A (p.Lys970=)
n.1223G>A
c.585G>A (p.Lys195=)
c.265+113555G>A (n.265+113555G>A)
c.366G>A (p.Lys122=)
c.939G>A (p.Lys313=)
n.13969G>A
c.13953G>A (p.Lys4651=)
c.13875G>A (p.Lys4625=)
c.11259G>A (p.Lys3753=)
c.13977G>A (p.Lys4659=)
c.13974G>A (p.Lys4658=)
c.13896G>A (p.Lys4632=)
c.13881G>A (p.Lys4627=)
c.7095G>A (p.Lys2365=)
c.7074G>A (p.Lys2358=)
n.13972G>A
 ClinVar
5g.90789764G>CCA360398812ADGRV1c.13956G>C (p.Lys4652Asn)
c.2910G>C (p.Lys970Asn)
n.1223G>C
c.585G>C (p.Lys195Asn)
c.265+113555G>C (n.265+113555G>C)
c.366G>C (p.Lys122Asn)
c.939G>C (p.Lys313Asn)
n.13969G>C
c.13953G>C (p.Lys4651Asn)
c.13875G>C (p.Lys4625Asn)
c.11259G>C (p.Lys3753Asn)
c.13977G>C (p.Lys4659Asn)
c.13974G>C (p.Lys4658Asn)
c.13896G>C (p.Lys4632Asn)
c.13881G>C (p.Lys4627Asn)
c.7095G>C (p.Lys2365Asn)
c.7074G>C (p.Lys2358Asn)
n.13972G>C
5g.90789764G>TCA360398809ADGRV1c.13956G>T (p.Lys4652Asn)
c.2910G>T (p.Lys970Asn)
n.1223G>T
c.585G>T (p.Lys195Asn)
c.265+113555G>T (n.265+113555G>T)
c.366G>T (p.Lys122Asn)
c.939G>T (p.Lys313Asn)
n.13969G>T
c.13953G>T (p.Lys4651Asn)
c.13875G>T (p.Lys4625Asn)
c.11259G>T (p.Lys3753Asn)
c.13977G>T (p.Lys4659Asn)
c.13974G>T (p.Lys4658Asn)
c.13896G>T (p.Lys4632Asn)
c.13881G>T (p.Lys4627Asn)
c.7095G>T (p.Lys2365Asn)
c.7074G>T (p.Lys2358Asn)
n.13972G>T
 gnomAD v4
5g.90789765A>CCA360398817ADGRV1c.13957A>C (p.Thr4653Pro)
c.2911A>C (p.Thr971Pro)
n.1224A>C
c.586A>C (p.Thr196Pro)
c.265+113556A>C (n.265+113556A>C)
c.367A>C (p.Thr123Pro)
c.940A>C (p.Thr314Pro)
n.13970A>C
c.13954A>C (p.Thr4652Pro)
c.13876A>C (p.Thr4626Pro)
c.11260A>C (p.Thr3754Pro)
c.13978A>C (p.Thr4660Pro)
c.13975A>C (p.Thr4659Pro)
c.13897A>C (p.Thr4633Pro)
c.13882A>C (p.Thr4628Pro)
c.7096A>C (p.Thr2366Pro)
c.7075A>C (p.Thr2359Pro)
n.13973A>C
5g.90789765A>GCA360398818ADGRV1c.13957A>G (p.Thr4653Ala)
c.2911A>G (p.Thr971Ala)
n.1224A>G
c.586A>G (p.Thr196Ala)
c.265+113556A>G (n.265+113556A>G)
c.367A>G (p.Thr123Ala)
c.940A>G (p.Thr314Ala)
n.13970A>G
c.13954A>G (p.Thr4652Ala)
c.13876A>G (p.Thr4626Ala)
c.11260A>G (p.Thr3754Ala)
c.13978A>G (p.Thr4660Ala)
c.13975A>G (p.Thr4659Ala)
c.13897A>G (p.Thr4633Ala)
c.13882A>G (p.Thr4628Ala)
c.7096A>G (p.Thr2366Ala)
c.7075A>G (p.Thr2359Ala)
n.13973A>G
5g.90789765A>TCA360398819ADGRV1c.13957A>T (p.Thr4653Ser)
c.2911A>T (p.Thr971Ser)
n.1224A>T
c.586A>T (p.Thr196Ser)
c.265+113556A>T (n.265+113556A>T)
c.367A>T (p.Thr123Ser)
c.940A>T (p.Thr314Ser)
n.13970A>T
c.13954A>T (p.Thr4652Ser)
c.13876A>T (p.Thr4626Ser)
c.11260A>T (p.Thr3754Ser)
c.13978A>T (p.Thr4660Ser)
c.13975A>T (p.Thr4659Ser)
c.13897A>T (p.Thr4633Ser)
c.13882A>T (p.Thr4628Ser)
c.7096A>T (p.Thr2366Ser)
c.7075A>T (p.Thr2359Ser)
n.13973A>T
 gnomAD v4
5g.90789766C>ACA360398824ADGRV1c.13958C>A (p.Thr4653Asn)
c.2912C>A (p.Thr971Asn)
n.1225C>A
c.587C>A (p.Thr196Asn)
c.265+113557C>A (n.265+113557C>A)
c.368C>A (p.Thr123Asn)
c.941C>A (p.Thr314Asn)
n.13971C>A
c.13955C>A (p.Thr4652Asn)
c.13877C>A (p.Thr4626Asn)
c.11261C>A (p.Thr3754Asn)
c.13979C>A (p.Thr4660Asn)
c.13976C>A (p.Thr4659Asn)
c.13898C>A (p.Thr4633Asn)
c.13883C>A (p.Thr4628Asn)
c.7097C>A (p.Thr2366Asn)
c.7076C>A (p.Thr2359Asn)
n.13974C>A
 gnomAD v4
5g.90789766C>GCA360398827ADGRV1c.13958C>G (p.Thr4653Ser)
c.2912C>G (p.Thr971Ser)
n.1225C>G
c.587C>G (p.Thr196Ser)
c.265+113557C>G (n.265+113557C>G)
c.368C>G (p.Thr123Ser)
c.941C>G (p.Thr314Ser)
n.13971C>G
c.13955C>G (p.Thr4652Ser)
c.13877C>G (p.Thr4626Ser)
c.11261C>G (p.Thr3754Ser)
c.13979C>G (p.Thr4660Ser)
c.13976C>G (p.Thr4659Ser)
c.13898C>G (p.Thr4633Ser)
c.13883C>G (p.Thr4628Ser)
c.7097C>G (p.Thr2366Ser)
c.7076C>G (p.Thr2359Ser)
n.13974C>G
5g.90789766C>TCA360398829ADGRV1c.13958C>T (p.Thr4653Ile)
c.2912C>T (p.Thr971Ile)
n.1225C>T
c.587C>T (p.Thr196Ile)
c.265+113557C>T (n.265+113557C>T)
c.368C>T (p.Thr123Ile)
c.941C>T (p.Thr314Ile)
n.13971C>T
c.13955C>T (p.Thr4652Ile)
c.13877C>T (p.Thr4626Ile)
c.11261C>T (p.Thr3754Ile)
c.13979C>T (p.Thr4660Ile)
c.13976C>T (p.Thr4659Ile)
c.13898C>T (p.Thr4633Ile)
c.13883C>T (p.Thr4628Ile)
c.7097C>T (p.Thr2366Ile)
c.7076C>T (p.Thr2359Ile)
n.13974C>T
 ClinVar gnomAD v4
5g.90789767T>ACA445415800ADGRV1c.13959T>A (p.Thr4653=)
c.2913T>A (p.Thr971=)
n.1226T>A
c.588T>A (p.Thr196=)
c.265+113558T>A (n.265+113558T>A)
c.369T>A (p.Thr123=)
c.942T>A (p.Thr314=)
n.13972T>A
c.13956T>A (p.Thr4652=)
c.13878T>A (p.Thr4626=)
c.11262T>A (p.Thr3754=)
c.13980T>A (p.Thr4660=)
c.13977T>A (p.Thr4659=)
c.13899T>A (p.Thr4633=)
c.13884T>A (p.Thr4628=)
c.7098T>A (p.Thr2366=)
c.7077T>A (p.Thr2359=)
n.13975T>A
5g.90789767T>CCA445415803ADGRV1c.13959T>C (p.Thr4653=)
c.2913T>C (p.Thr971=)
n.1226T>C
c.588T>C (p.Thr196=)
c.265+113558T>C (n.265+113558T>C)
c.369T>C (p.Thr123=)
c.942T>C (p.Thr314=)
n.13972T>C
c.13956T>C (p.Thr4652=)
c.13878T>C (p.Thr4626=)
c.11262T>C (p.Thr3754=)
c.13980T>C (p.Thr4660=)
c.13977T>C (p.Thr4659=)
c.13899T>C (p.Thr4633=)
c.13884T>C (p.Thr4628=)
c.7098T>C (p.Thr2366=)
c.7077T>C (p.Thr2359=)
n.13975T>C
 gnomAD v4
5g.90789767T>GCA445415804ADGRV1c.13959T>G (p.Thr4653=)
c.2913T>G (p.Thr971=)
n.1226T>G
c.588T>G (p.Thr196=)
c.265+113558T>G (n.265+113558T>G)
c.369T>G (p.Thr123=)
c.942T>G (p.Thr314=)
n.13972T>G
c.13956T>G (p.Thr4652=)
c.13878T>G (p.Thr4626=)
c.11262T>G (p.Thr3754=)
c.13980T>G (p.Thr4660=)
c.13977T>G (p.Thr4659=)
c.13899T>G (p.Thr4633=)
c.13884T>G (p.Thr4628=)
c.7098T>G (p.Thr2366=)
c.7077T>G (p.Thr2359=)
n.13975T>G
5g.90789768T>ACA360398832ADGRV1c.13960T>A (p.Tyr4654Asn)
c.2914T>A (p.Tyr972Asn)
n.1227T>A
c.589T>A (p.Tyr197Asn)
c.265+113559T>A (n.265+113559T>A)
c.370T>A (p.Tyr124Asn)
c.943T>A (p.Tyr315Asn)
n.13973T>A
c.13957T>A (p.Tyr4653Asn)
c.13879T>A (p.Tyr4627Asn)
c.11263T>A (p.Tyr3755Asn)
c.13981T>A (p.Tyr4661Asn)
c.13978T>A (p.Tyr4660Asn)
c.13900T>A (p.Tyr4634Asn)
c.13885T>A (p.Tyr4629Asn)
c.7099T>A (p.Tyr2367Asn)
c.7078T>A (p.Tyr2360Asn)
n.13976T>A
5g.90789768T>CCA360398838ADGRV1c.13960T>C (p.Tyr4654His)
c.2914T>C (p.Tyr972His)
n.1227T>C
c.589T>C (p.Tyr197His)
c.265+113559T>C (n.265+113559T>C)
c.370T>C (p.Tyr124His)
c.943T>C (p.Tyr315His)
n.13973T>C
c.13957T>C (p.Tyr4653His)
c.13879T>C (p.Tyr4627His)
c.11263T>C (p.Tyr3755His)
c.13981T>C (p.Tyr4661His)
c.13978T>C (p.Tyr4660His)
c.13900T>C (p.Tyr4634His)
c.13885T>C (p.Tyr4629His)
c.7099T>C (p.Tyr2367His)
c.7078T>C (p.Tyr2360His)
n.13976T>C
5g.90789768T>GCA360398836ADGRV1c.13960T>G (p.Tyr4654Asp)
c.2914T>G (p.Tyr972Asp)
n.1227T>G
c.589T>G (p.Tyr197Asp)
c.265+113559T>G (n.265+113559T>G)
c.370T>G (p.Tyr124Asp)
c.943T>G (p.Tyr315Asp)
n.13973T>G
c.13957T>G (p.Tyr4653Asp)
c.13879T>G (p.Tyr4627Asp)
c.11263T>G (p.Tyr3755Asp)
c.13981T>G (p.Tyr4661Asp)
c.13978T>G (p.Tyr4660Asp)
c.13900T>G (p.Tyr4634Asp)
c.13885T>G (p.Tyr4629Asp)
c.7099T>G (p.Tyr2367Asp)
c.7078T>G (p.Tyr2360Asp)
n.13976T>G
5g.90789768_90789769insCTGCA2500059010ADGRV1c.13960_13961insCTG (p.Tyr4654delinsSerAsp)
c.2914_2915insCTG (p.Tyr972delinsSerAsp)
n.1227_1228insCTG
c.589_590insCTG (p.Tyr197delinsSerAsp)
c.265+113559_265+113560insCTG (n.265+113559_265+113560insCTG)
c.370_371insCTG (p.Tyr124delinsSerAsp)
c.943_944insCTG (p.Tyr315delinsSerAsp)
n.13973_13974insCTG
c.13957_13958insCTG (p.Tyr4653delinsSerAsp)
c.13879_13880insCTG (p.Tyr4627delinsSerAsp)
c.11263_11264insCTG (p.Tyr3755delinsSerAsp)
c.13981_13982insCTG (p.Tyr4661delinsSerAsp)
c.13978_13979insCTG (p.Tyr4660delinsSerAsp)
c.13900_13901insCTG (p.Tyr4634delinsSerAsp)
c.13885_13886insCTG (p.Tyr4629delinsSerAsp)
c.7099_7100insCTG (p.Tyr2367delinsSerAsp)
c.7078_7079insCTG (p.Tyr2360delinsSerAsp)
n.13976_13977insCTG
5g.90789769A>CCA360398843ADGRV1c.13961A>C (p.Tyr4654Ser)
c.2915A>C (p.Tyr972Ser)
n.1228A>C
c.590A>C (p.Tyr197Ser)
c.265+113560A>C (n.265+113560A>C)
c.371A>C (p.Tyr124Ser)
c.944A>C (p.Tyr315Ser)
n.13974A>C
c.13958A>C (p.Tyr4653Ser)
c.13880A>C (p.Tyr4627Ser)
c.11264A>C (p.Tyr3755Ser)
c.13982A>C (p.Tyr4661Ser)
c.13979A>C (p.Tyr4660Ser)
c.13901A>C (p.Tyr4634Ser)
c.13886A>C (p.Tyr4629Ser)
c.7100A>C (p.Tyr2367Ser)
c.7079A>C (p.Tyr2360Ser)
n.13977A>C
5g.90789769A>GCA360398844ADGRV1c.13961A>G (p.Tyr4654Cys)
c.2915A>G (p.Tyr972Cys)
n.1228A>G
c.590A>G (p.Tyr197Cys)
c.265+113560A>G (n.265+113560A>G)
c.371A>G (p.Tyr124Cys)
c.944A>G (p.Tyr315Cys)
n.13974A>G
c.13958A>G (p.Tyr4653Cys)
c.13880A>G (p.Tyr4627Cys)
c.11264A>G (p.Tyr3755Cys)
c.13982A>G (p.Tyr4661Cys)
c.13979A>G (p.Tyr4660Cys)
c.13901A>G (p.Tyr4634Cys)
c.13886A>G (p.Tyr4629Cys)
c.7100A>G (p.Tyr2367Cys)
c.7079A>G (p.Tyr2360Cys)
n.13977A>G
 gnomAD v4
5g.90789769A>TCA360398846ADGRV1c.13961A>T (p.Tyr4654Phe)
c.2915A>T (p.Tyr972Phe)
n.1228A>T
c.590A>T (p.Tyr197Phe)
c.265+113560A>T (n.265+113560A>T)
c.371A>T (p.Tyr124Phe)
c.944A>T (p.Tyr315Phe)
n.13974A>T
c.13958A>T (p.Tyr4653Phe)
c.13880A>T (p.Tyr4627Phe)
c.11264A>T (p.Tyr3755Phe)
c.13982A>T (p.Tyr4661Phe)
c.13979A>T (p.Tyr4660Phe)
c.13901A>T (p.Tyr4634Phe)
c.13886A>T (p.Tyr4629Phe)
c.7100A>T (p.Tyr2367Phe)
c.7079A>T (p.Tyr2360Phe)
n.13977A>T
5g.90789769_90789770insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAACCA2542038212ADGRV1c.13961_13962insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser4655ValfsTer?)
c.2915_2916insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser973ValfsTer?)
n.1228_1229insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC
c.590_591insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser198ValfsTer?)
c.265+113560_265+113561insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (n.265+113560_265+113561insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC)
c.371_372insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser125ValfsTer?)
c.944_945insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser316ValfsTer?)
n.13974_13975insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC
c.13958_13959insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser4654ValfsTer?)
c.13880_13881insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser4628ValfsTer?)
c.11264_11265insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser3756ValfsTer?)
c.13982_13983insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser4662ValfsTer?)
c.13979_13980insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser4661ValfsTer?)
c.13901_13902insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser4635ValfsTer?)
c.13886_13887insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser4630ValfsTer?)
c.7100_7101insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser2368ValfsTer?)
c.7079_7080insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC (p.Ser2361ValfsTer?)
n.13977_13978insCGTGCGTATCGAGGCGACGGGTACCAATAAGGCGAAC
5g.90789769_90789770insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGACCA2767422769ADGRV1c.13961_13962insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser4655ValfsTer?)
c.2915_2916insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser973ValfsTer?)
n.1228_1229insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC
c.590_591insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser198ValfsTer?)
c.265+113560_265+113561insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (n.265+113560_265+113561insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC)
c.371_372insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser125ValfsTer?)
c.944_945insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser316ValfsTer?)
n.13974_13975insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC
c.13958_13959insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser4654ValfsTer?)
c.13880_13881insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser4628ValfsTer?)
c.11264_11265insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser3756ValfsTer?)
c.13982_13983insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser4662ValfsTer?)
c.13979_13980insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser4661ValfsTer?)
c.13901_13902insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser4635ValfsTer?)
c.13886_13887insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser4630ValfsTer?)
c.7100_7101insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser2368ValfsTer?)
c.7079_7080insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC (p.Ser2361ValfsTer?)
n.13977_13978insCGTGCGCATTGAGGCGACGGGTACCAATAAGGCGAACTTCATCGTTGATAACAAATACACGTGGGCAGTAGAC
5g.90789770T>ACA360398849ADGRV1c.13962T>A (p.Tyr4654Ter)
c.2916T>A (p.Tyr972Ter)
n.1229T>A
c.591T>A (p.Tyr197Ter)
c.265+113561T>A (n.265+113561T>A)
c.372T>A (p.Tyr124Ter)
c.945T>A (p.Tyr315Ter)
n.13975T>A
c.13959T>A (p.Tyr4653Ter)
c.13881T>A (p.Tyr4627Ter)
c.11265T>A (p.Tyr3755Ter)
c.13983T>A (p.Tyr4661Ter)
c.13980T>A (p.Tyr4660Ter)
c.13902T>A (p.Tyr4634Ter)
c.13887T>A (p.Tyr4629Ter)
c.7101T>A (p.Tyr2367Ter)
c.7080T>A (p.Tyr2360Ter)
n.13978T>A
5g.90789770T>CCA445415810ADGRV1c.13962T>C (p.Tyr4654=)
c.2916T>C (p.Tyr972=)
n.1229T>C
c.591T>C (p.Tyr197=)
c.265+113561T>C (n.265+113561T>C)
c.372T>C (p.Tyr124=)
c.945T>C (p.Tyr315=)
n.13975T>C
c.13959T>C (p.Tyr4653=)
c.13881T>C (p.Tyr4627=)
c.11265T>C (p.Tyr3755=)
c.13983T>C (p.Tyr4661=)
c.13980T>C (p.Tyr4660=)
c.13902T>C (p.Tyr4634=)
c.13887T>C (p.Tyr4629=)
c.7101T>C (p.Tyr2367=)
c.7080T>C (p.Tyr2360=)
n.13978T>C
 ClinVar dbSNP gnomAD v4
5g.90789770T>GCA360398851ADGRV1c.13962T>G (p.Tyr4654Ter)
c.2916T>G (p.Tyr972Ter)
n.1229T>G
c.591T>G (p.Tyr197Ter)
c.265+113561T>G (n.265+113561T>G)
c.372T>G (p.Tyr124Ter)
c.945T>G (p.Tyr315Ter)
n.13975T>G
c.13959T>G (p.Tyr4653Ter)
c.13881T>G (p.Tyr4627Ter)
c.11265T>G (p.Tyr3755Ter)
c.13983T>G (p.Tyr4661Ter)
c.13980T>G (p.Tyr4660Ter)
c.13902T>G (p.Tyr4634Ter)
c.13887T>G (p.Tyr4629Ter)
c.7101T>G (p.Tyr2367Ter)
c.7080T>G (p.Tyr2360Ter)
n.13978T>G
5g.90789770T=CA1562901683ADGRV1c.13962T= (p.Tyr4654=)
c.2916T= (p.Tyr972=)
n.1229T=
c.591T= (p.Tyr197=)
c.265+113561T= (n.265+113561T=)
c.372T= (p.Tyr124=)
c.945T= (p.Tyr315=)
n.13975T=
c.13959T= (p.Tyr4653=)
c.13881T= (p.Tyr4627=)
c.11265T= (p.Tyr3755=)
c.13983T= (p.Tyr4661=)
c.13980T= (p.Tyr4660=)
c.13902T= (p.Tyr4634=)
c.13887T= (p.Tyr4629=)
c.7101T= (p.Tyr2367=)
c.7080T= (p.Tyr2360=)
n.13978T=
5g.90789771T>ACA360398856ADGRV1c.13963T>A (p.Ser4655Thr)
c.2917T>A (p.Ser973Thr)
n.1230T>A
c.592T>A (p.Ser198Thr)
c.265+113562T>A (n.265+113562T>A)
c.373T>A (p.Ser125Thr)
c.946T>A (p.Ser316Thr)
n.13976T>A
c.13960T>A (p.Ser4654Thr)
c.13882T>A (p.Ser4628Thr)
c.11266T>A (p.Ser3756Thr)
c.13984T>A (p.Ser4662Thr)
c.13981T>A (p.Ser4661Thr)
c.13903T>A (p.Ser4635Thr)
c.13888T>A (p.Ser4630Thr)
c.7102T>A (p.Ser2368Thr)
c.7081T>A (p.Ser2361Thr)
n.13979T>A
5g.90789771T>CCA360398858ADGRV1c.13963T>C (p.Ser4655Pro)
c.2917T>C (p.Ser973Pro)
n.1230T>C
c.592T>C (p.Ser198Pro)
c.265+113562T>C (n.265+113562T>C)
c.373T>C (p.Ser125Pro)
c.946T>C (p.Ser316Pro)
n.13976T>C
c.13960T>C (p.Ser4654Pro)
c.13882T>C (p.Ser4628Pro)
c.11266T>C (p.Ser3756Pro)
c.13984T>C (p.Ser4662Pro)
c.13981T>C (p.Ser4661Pro)
c.13903T>C (p.Ser4635Pro)
c.13888T>C (p.Ser4630Pro)
c.7102T>C (p.Ser2368Pro)
c.7081T>C (p.Ser2361Pro)
n.13979T>C
 gnomAD v4
5g.90789771T>GCA360398862ADGRV1c.13963T>G (p.Ser4655Ala)
c.2917T>G (p.Ser973Ala)
n.1230T>G
c.592T>G (p.Ser198Ala)
c.265+113562T>G (n.265+113562T>G)
c.373T>G (p.Ser125Ala)
c.946T>G (p.Ser316Ala)
n.13976T>G
c.13960T>G (p.Ser4654Ala)
c.13882T>G (p.Ser4628Ala)
c.11266T>G (p.Ser3756Ala)
c.13984T>G (p.Ser4662Ala)
c.13981T>G (p.Ser4661Ala)
c.13903T>G (p.Ser4635Ala)
c.13888T>G (p.Ser4630Ala)
c.7102T>G (p.Ser2368Ala)
c.7081T>G (p.Ser2361Ala)
n.13979T>G
5g.90789772C>ACA360398865ADGRV1c.13964C>A (p.Ser4655Ter)
c.2918C>A (p.Ser973Ter)
n.1231C>A
c.593C>A (p.Ser198Ter)
c.265+113563C>A (n.265+113563C>A)
c.374C>A (p.Ser125Ter)
c.947C>A (p.Ser316Ter)
n.13977C>A
c.13961C>A (p.Ser4654Ter)
c.13883C>A (p.Ser4628Ter)
c.11267C>A (p.Ser3756Ter)
c.13985C>A (p.Ser4662Ter)
c.13982C>A (p.Ser4661Ter)
c.13904C>A (p.Ser4635Ter)
c.13889C>A (p.Ser4630Ter)
c.7103C>A (p.Ser2368Ter)
c.7082C>A (p.Ser2361Ter)
n.13980C>A
 gnomAD v4
5g.90789772C=CA1562901684ADGRV1c.13964C= (p.Ser4655=)
c.2918C= (p.Ser973=)
n.1231C=
c.593C= (p.Ser198=)
c.265+113563C= (n.265+113563C=)
c.374C= (p.Ser125=)
c.947C= (p.Ser316=)
n.13977C=
c.13961C= (p.Ser4654=)
c.13883C= (p.Ser4628=)
c.11267C= (p.Ser3756=)
c.13985C= (p.Ser4662=)
c.13982C= (p.Ser4661=)
c.13904C= (p.Ser4635=)
c.13889C= (p.Ser4630=)
c.7103C= (p.Ser2368=)
c.7082C= (p.Ser2361=)
n.13980C=
5g.90789772C>GCA360398868ADGRV1c.13964C>G (p.Ser4655Ter)
c.2918C>G (p.Ser973Ter)
n.1231C>G
c.593C>G (p.Ser198Ter)
c.265+113563C>G (n.265+113563C>G)
c.374C>G (p.Ser125Ter)
c.947C>G (p.Ser316Ter)
n.13977C>G
c.13961C>G (p.Ser4654Ter)
c.13883C>G (p.Ser4628Ter)
c.11267C>G (p.Ser3756Ter)
c.13985C>G (p.Ser4662Ter)
c.13982C>G (p.Ser4661Ter)
c.13904C>G (p.Ser4635Ter)
c.13889C>G (p.Ser4630Ter)
c.7103C>G (p.Ser2368Ter)
c.7082C>G (p.Ser2361Ter)
n.13980C>G
 gnomAD v4
5g.90789772C>TCA122810860ADGRV1c.13964C>T (p.Ser4655Leu)
c.2918C>T (p.Ser973Leu)
n.1231C>T
c.593C>T (p.Ser198Leu)
c.265+113563C>T (n.265+113563C>T)
c.374C>T (p.Ser125Leu)
c.947C>T (p.Ser316Leu)
n.13977C>T
c.13961C>T (p.Ser4654Leu)
c.13883C>T (p.Ser4628Leu)
c.11267C>T (p.Ser3756Leu)
c.13985C>T (p.Ser4662Leu)
c.13982C>T (p.Ser4661Leu)
c.13904C>T (p.Ser4635Leu)
c.13889C>T (p.Ser4630Leu)
c.7103C>T (p.Ser2368Leu)
c.7082C>T (p.Ser2361Leu)
n.13980C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90789773A>CCA445415815ADGRV1c.13965A>C (p.Ser4655=)
c.2919A>C (p.Ser973=)
n.1232A>C
c.594A>C (p.Ser198=)
c.265+113564A>C (n.265+113564A>C)
c.375A>C (p.Ser125=)
c.948A>C (p.Ser316=)
n.13978A>C
c.13962A>C (p.Ser4654=)
c.13884A>C (p.Ser4628=)
c.11268A>C (p.Ser3756=)
c.13986A>C (p.Ser4662=)
c.13983A>C (p.Ser4661=)
c.13905A>C (p.Ser4635=)
c.13890A>C (p.Ser4630=)
c.7104A>C (p.Ser2368=)
c.7083A>C (p.Ser2361=)
n.13981A>C
5g.90789773A>GCA445415816ADGRV1c.13965A>G (p.Ser4655=)
c.2919A>G (p.Ser973=)
n.1232A>G
c.594A>G (p.Ser198=)
c.265+113564A>G (n.265+113564A>G)
c.375A>G (p.Ser125=)
c.948A>G (p.Ser316=)
n.13978A>G
c.13962A>G (p.Ser4654=)
c.13884A>G (p.Ser4628=)
c.11268A>G (p.Ser3756=)
c.13986A>G (p.Ser4662=)
c.13983A>G (p.Ser4661=)
c.13905A>G (p.Ser4635=)
c.13890A>G (p.Ser4630=)
c.7104A>G (p.Ser2368=)
c.7083A>G (p.Ser2361=)
n.13981A>G
 ClinVar gnomAD v4
5g.90789773A>TCA445415818ADGRV1c.13965A>T (p.Ser4655=)
c.2919A>T (p.Ser973=)
n.1232A>T
c.594A>T (p.Ser198=)
c.265+113564A>T (n.265+113564A>T)
c.375A>T (p.Ser125=)
c.948A>T (p.Ser316=)
n.13978A>T
c.13962A>T (p.Ser4654=)
c.13884A>T (p.Ser4628=)
c.11268A>T (p.Ser3756=)
c.13986A>T (p.Ser4662=)
c.13983A>T (p.Ser4661=)
c.13905A>T (p.Ser4635=)
c.13890A>T (p.Ser4630=)
c.7104A>T (p.Ser2368=)
c.7083A>T (p.Ser2361=)
n.13981A>T
5g.90789773_90789774insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAACA2570210869ADGRV1c.13965_13966insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu4656SerfsTer10)
c.2919_2920insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu974SerfsTer10)
n.1232_1233insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA
c.594_595insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu199SerfsTer10)
c.265+113564_265+113565insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (n.265+113564_265+113565insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA)
c.375_376insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu126SerfsTer10)
c.948_949insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu317SerfsTer10)
n.13978_13979insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA
c.13962_13963insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu4655SerfsTer10)
c.13884_13885insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu4629SerfsTer10)
c.11268_11269insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu3757SerfsTer10)
c.13986_13987insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu4663SerfsTer10)
c.13983_13984insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu4662SerfsTer10)
c.13905_13906insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu4636SerfsTer10)
c.13890_13891insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu4631SerfsTer10)
c.7104_7105insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu2369SerfsTer10)
c.7083_7084insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA (p.Glu2362SerfsTer10)
n.13981_13982insTCGTTGATAACAAATACACGTGGGCAGTAGACTTCATCCCTGGTAAGGGCTTCAAGATGTCCAATGGTAAGGTCGTTGCTAA
5g.90789774G>ACA360398872ADGRV1c.13966G>A (p.Glu4656Lys)
c.2920G>A (p.Glu974Lys)
n.1233G>A
c.595G>A (p.Glu199Lys)
c.265+113565G>A (n.265+113565G>A)
c.376G>A (p.Glu126Lys)
c.949G>A (p.Glu317Lys)
n.13979G>A
c.13963G>A (p.Glu4655Lys)
c.13885G>A (p.Glu4629Lys)
c.11269G>A (p.Glu3757Lys)
c.13987G>A (p.Glu4663Lys)
c.13984G>A (p.Glu4662Lys)
c.13906G>A (p.Glu4636Lys)
c.13891G>A (p.Glu4631Lys)
c.7105G>A (p.Glu2369Lys)
c.7084G>A (p.Glu2362Lys)
n.13982G>A
 gnomAD v4
5g.90789774G>CCA360398874ADGRV1c.13966G>C (p.Glu4656Gln)
c.2920G>C (p.Glu974Gln)
n.1233G>C
c.595G>C (p.Glu199Gln)
c.265+113565G>C (n.265+113565G>C)
c.376G>C (p.Glu126Gln)
c.949G>C (p.Glu317Gln)
n.13979G>C
c.13963G>C (p.Glu4655Gln)
c.13885G>C (p.Glu4629Gln)
c.11269G>C (p.Glu3757Gln)
c.13987G>C (p.Glu4663Gln)
c.13984G>C (p.Glu4662Gln)
c.13906G>C (p.Glu4636Gln)
c.13891G>C (p.Glu4631Gln)
c.7105G>C (p.Glu2369Gln)
c.7084G>C (p.Glu2362Gln)
n.13982G>C
 gnomAD v4
5g.90789774G>TCA360398870ADGRV1c.13966G>T (p.Glu4656Ter)
c.2920G>T (p.Glu974Ter)
n.1233G>T
c.595G>T (p.Glu199Ter)
c.265+113565G>T (n.265+113565G>T)
c.376G>T (p.Glu126Ter)
c.949G>T (p.Glu317Ter)
n.13979G>T
c.13963G>T (p.Glu4655Ter)
c.13885G>T (p.Glu4629Ter)
c.11269G>T (p.Glu3757Ter)
c.13987G>T (p.Glu4663Ter)
c.13984G>T (p.Glu4662Ter)
c.13906G>T (p.Glu4636Ter)
c.13891G>T (p.Glu4631Ter)
c.7105G>T (p.Glu2369Ter)
c.7084G>T (p.Glu2362Ter)
n.13982G>T
5g.90789775A>CCA360398880ADGRV1c.13967A>C (p.Glu4656Ala)
c.2921A>C (p.Glu974Ala)
n.1234A>C
c.596A>C (p.Glu199Ala)
c.265+113566A>C (n.265+113566A>C)
c.377A>C (p.Glu126Ala)
c.950A>C (p.Glu317Ala)
n.13980A>C
c.13964A>C (p.Glu4655Ala)
c.13886A>C (p.Glu4629Ala)
c.11270A>C (p.Glu3757Ala)
c.13988A>C (p.Glu4663Ala)
c.13985A>C (p.Glu4662Ala)
c.13907A>C (p.Glu4636Ala)
c.13892A>C (p.Glu4631Ala)
c.7106A>C (p.Glu2369Ala)
c.7085A>C (p.Glu2362Ala)
n.13983A>C
5g.90789775A>GCA360398877ADGRV1c.13967A>G (p.Glu4656Gly)
c.2921A>G (p.Glu974Gly)
n.1234A>G
c.596A>G (p.Glu199Gly)
c.265+113566A>G (n.265+113566A>G)
c.377A>G (p.Glu126Gly)
c.950A>G (p.Glu317Gly)
n.13980A>G
c.13964A>G (p.Glu4655Gly)
c.13886A>G (p.Glu4629Gly)
c.11270A>G (p.Glu3757Gly)
c.13988A>G (p.Glu4663Gly)
c.13985A>G (p.Glu4662Gly)
c.13907A>G (p.Glu4636Gly)
c.13892A>G (p.Glu4631Gly)
c.7106A>G (p.Glu2369Gly)
c.7085A>G (p.Glu2362Gly)
n.13983A>G
5g.90789775A>TCA360398878ADGRV1c.13967A>T (p.Glu4656Val)
c.2921A>T (p.Glu974Val)
n.1234A>T
c.596A>T (p.Glu199Val)
c.265+113566A>T (n.265+113566A>T)
c.377A>T (p.Glu126Val)
c.950A>T (p.Glu317Val)
n.13980A>T
c.13964A>T (p.Glu4655Val)
c.13886A>T (p.Glu4629Val)
c.11270A>T (p.Glu3757Val)
c.13988A>T (p.Glu4663Val)
c.13985A>T (p.Glu4662Val)
c.13907A>T (p.Glu4636Val)
c.13892A>T (p.Glu4631Val)
c.7106A>T (p.Glu2369Val)
c.7085A>T (p.Glu2362Val)
n.13983A>T
5g.90789776G>ACA445415823ADGRV1c.13968G>A (p.Glu4656=)
c.2922G>A (p.Glu974=)
n.1235G>A
c.597G>A (p.Glu199=)
c.265+113567G>A (n.265+113567G>A)
c.378G>A (p.Glu126=)
c.951G>A (p.Glu317=)
n.13981G>A
c.13965G>A (p.Glu4655=)
c.13887G>A (p.Glu4629=)
c.11271G>A (p.Glu3757=)
c.13989G>A (p.Glu4663=)
c.13986G>A (p.Glu4662=)
c.13908G>A (p.Glu4636=)
c.13893G>A (p.Glu4631=)
c.7107G>A (p.Glu2369=)
c.7086G>A (p.Glu2362=)
n.13984G>A
 gnomAD v4 COSMIC
5g.90789776G>CCA360398882ADGRV1c.13968G>C (p.Glu4656Asp)
c.2922G>C (p.Glu974Asp)
n.1235G>C
c.597G>C (p.Glu199Asp)
c.265+113567G>C (n.265+113567G>C)
c.378G>C (p.Glu126Asp)
c.951G>C (p.Glu317Asp)
n.13981G>C
c.13965G>C (p.Glu4655Asp)
c.13887G>C (p.Glu4629Asp)
c.11271G>C (p.Glu3757Asp)
c.13989G>C (p.Glu4663Asp)
c.13986G>C (p.Glu4662Asp)
c.13908G>C (p.Glu4636Asp)
c.13893G>C (p.Glu4631Asp)
c.7107G>C (p.Glu2369Asp)
c.7086G>C (p.Glu2362Asp)
n.13984G>C
5g.90789776G>TCA360398883ADGRV1c.13968G>T (p.Glu4656Asp)
c.2922G>T (p.Glu974Asp)
n.1235G>T
c.597G>T (p.Glu199Asp)
c.265+113567G>T (n.265+113567G>T)
c.378G>T (p.Glu126Asp)
c.951G>T (p.Glu317Asp)
n.13981G>T
c.13965G>T (p.Glu4655Asp)
c.13887G>T (p.Glu4629Asp)
c.11271G>T (p.Glu3757Asp)
c.13989G>T (p.Glu4663Asp)
c.13986G>T (p.Glu4662Asp)
c.13908G>T (p.Glu4636Asp)
c.13893G>T (p.Glu4631Asp)
c.7107G>T (p.Glu2369Asp)
c.7086G>T (p.Glu2362Asp)
n.13984G>T
 gnomAD v4
5g.90789777C>ACA360398885ADGRV1c.13969C>A (p.Pro4657Thr)
c.2923C>A (p.Pro975Thr)
n.1236C>A
c.598C>A (p.Pro200Thr)
c.265+113568C>A (n.265+113568C>A)
c.379C>A (p.Pro127Thr)
c.952C>A (p.Pro318Thr)
n.13982C>A
c.13966C>A (p.Pro4656Thr)
c.13888C>A (p.Pro4630Thr)
c.11272C>A (p.Pro3758Thr)
c.13990C>A (p.Pro4664Thr)
c.13987C>A (p.Pro4663Thr)
c.13909C>A (p.Pro4637Thr)
c.13894C>A (p.Pro4632Thr)
c.7108C>A (p.Pro2370Thr)
c.7087C>A (p.Pro2363Thr)
n.13985C>A
 gnomAD v4
5g.90789777C>GCA360398887ADGRV1c.13969C>G (p.Pro4657Ala)
c.2923C>G (p.Pro975Ala)
n.1236C>G
c.598C>G (p.Pro200Ala)
c.265+113568C>G (n.265+113568C>G)
c.379C>G (p.Pro127Ala)
c.952C>G (p.Pro318Ala)
n.13982C>G
c.13966C>G (p.Pro4656Ala)
c.13888C>G (p.Pro4630Ala)
c.11272C>G (p.Pro3758Ala)
c.13990C>G (p.Pro4664Ala)
c.13987C>G (p.Pro4663Ala)
c.13909C>G (p.Pro4637Ala)
c.13894C>G (p.Pro4632Ala)
c.7108C>G (p.Pro2370Ala)
c.7087C>G (p.Pro2363Ala)
n.13985C>G
5g.90789777C>TCA360398889ADGRV1c.13969C>T (p.Pro4657Ser)
c.2923C>T (p.Pro975Ser)
n.1236C>T
c.598C>T (p.Pro200Ser)
c.265+113568C>T (n.265+113568C>T)
c.379C>T (p.Pro127Ser)
c.952C>T (p.Pro318Ser)
n.13982C>T
c.13966C>T (p.Pro4656Ser)
c.13888C>T (p.Pro4630Ser)
c.11272C>T (p.Pro3758Ser)
c.13990C>T (p.Pro4664Ser)
c.13987C>T (p.Pro4663Ser)
c.13909C>T (p.Pro4637Ser)
c.13894C>T (p.Pro4632Ser)
c.7108C>T (p.Pro2370Ser)
c.7087C>T (p.Pro2363Ser)
n.13985C>T
 gnomAD v4
5g.90789778C>ACA122810862ADGRV1c.13970C>A (p.Pro4657His)
c.2924C>A (p.Pro975His)
n.1237C>A
c.599C>A (p.Pro200His)
c.265+113569C>A (n.265+113569C>A)
c.380C>A (p.Pro127His)
c.953C>A (p.Pro318His)
n.13983C>A
c.13967C>A (p.Pro4656His)
c.13889C>A (p.Pro4630His)
c.11273C>A (p.Pro3758His)
c.13991C>A (p.Pro4664His)
c.13988C>A (p.Pro4663His)
c.13910C>A (p.Pro4637His)
c.13895C>A (p.Pro4632His)
c.7109C>A (p.Pro2370His)
c.7088C>A (p.Pro2363His)
n.13986C>A
 dbSNP gnomAD v4
5g.90789778C=CA1562901685ADGRV1c.13970C= (p.Pro4657=)
c.2924C= (p.Pro975=)
n.1237C=
c.599C= (p.Pro200=)
c.265+113569C= (n.265+113569C=)
c.380C= (p.Pro127=)
c.953C= (p.Pro318=)
n.13983C=
c.13967C= (p.Pro4656=)
c.13889C= (p.Pro4630=)
c.11273C= (p.Pro3758=)
c.13991C= (p.Pro4664=)
c.13988C= (p.Pro4663=)
c.13910C= (p.Pro4637=)
c.13895C= (p.Pro4632=)
c.7109C= (p.Pro2370=)
c.7088C= (p.Pro2363=)
n.13986C=
5g.90789778C>GCA360398891ADGRV1c.13970C>G (p.Pro4657Arg)
c.2924C>G (p.Pro975Arg)
n.1237C>G
c.599C>G (p.Pro200Arg)
c.265+113569C>G (n.265+113569C>G)
c.380C>G (p.Pro127Arg)
c.953C>G (p.Pro318Arg)
n.13983C>G
c.13967C>G (p.Pro4656Arg)
c.13889C>G (p.Pro4630Arg)
c.11273C>G (p.Pro3758Arg)
c.13991C>G (p.Pro4664Arg)
c.13988C>G (p.Pro4663Arg)
c.13910C>G (p.Pro4637Arg)
c.13895C>G (p.Pro4632Arg)
c.7109C>G (p.Pro2370Arg)
c.7088C>G (p.Pro2363Arg)
n.13986C>G
5g.90789778C>TCA360398893ADGRV1c.13970C>T (p.Pro4657Leu)
c.2924C>T (p.Pro975Leu)
n.1237C>T
c.599C>T (p.Pro200Leu)
c.265+113569C>T (n.265+113569C>T)
c.380C>T (p.Pro127Leu)
c.953C>T (p.Pro318Leu)
n.13983C>T
c.13967C>T (p.Pro4656Leu)
c.13889C>T (p.Pro4630Leu)
c.11273C>T (p.Pro3758Leu)
c.13991C>T (p.Pro4664Leu)
c.13988C>T (p.Pro4663Leu)
c.13910C>T (p.Pro4637Leu)
c.13895C>T (p.Pro4632Leu)
c.7109C>T (p.Pro2370Leu)
c.7088C>T (p.Pro2363Leu)
n.13986C>T
 gnomAD v4
5g.90789779T>ACA445415830ADGRV1c.13971T>A (p.Pro4657=)
c.2925T>A (p.Pro975=)
n.1238T>A
c.600T>A (p.Pro200=)
c.265+113570T>A (n.265+113570T>A)
c.381T>A (p.Pro127=)
c.954T>A (p.Pro318=)
n.13984T>A
c.13968T>A (p.Pro4656=)
c.13890T>A (p.Pro4630=)
c.11274T>A (p.Pro3758=)
c.13992T>A (p.Pro4664=)
c.13989T>A (p.Pro4663=)
c.13911T>A (p.Pro4637=)
c.13896T>A (p.Pro4632=)
c.7110T>A (p.Pro2370=)
c.7089T>A (p.Pro2363=)
n.13987T>A
 gnomAD v4
5g.90789779T>CCA122810864ADGRV1c.13971T>C (p.Pro4657=)
c.2925T>C (p.Pro975=)
n.1238T>C
c.600T>C (p.Pro200=)
c.265+113570T>C (n.265+113570T>C)
c.381T>C (p.Pro127=)
c.954T>C (p.Pro318=)
n.13984T>C
c.13968T>C (p.Pro4656=)
c.13890T>C (p.Pro4630=)
c.11274T>C (p.Pro3758=)
c.13992T>C (p.Pro4664=)
c.13989T>C (p.Pro4663=)
c.13911T>C (p.Pro4637=)
c.13896T>C (p.Pro4632=)
c.7110T>C (p.Pro2370=)
c.7089T>C (p.Pro2363=)
n.13987T>C
 dbSNP gnomAD v3 gnomAD v4
5g.90789779T>GCA445415831ADGRV1c.13971T>G (p.Pro4657=)
c.2925T>G (p.Pro975=)
n.1238T>G
c.600T>G (p.Pro200=)
c.265+113570T>G (n.265+113570T>G)
c.381T>G (p.Pro127=)
c.954T>G (p.Pro318=)
n.13984T>G
c.13968T>G (p.Pro4656=)
c.13890T>G (p.Pro4630=)
c.11274T>G (p.Pro3758=)
c.13992T>G (p.Pro4664=)
c.13989T>G (p.Pro4663=)
c.13911T>G (p.Pro4637=)
c.13896T>G (p.Pro4632=)
c.7110T>G (p.Pro2370=)
c.7089T>G (p.Pro2363=)
n.13987T>G
 dbSNP
5g.90789779T=CA1562901686ADGRV1c.13971T= (p.Pro4657=)
c.2925T= (p.Pro975=)
n.1238T=
c.600T= (p.Pro200=)
c.265+113570T= (n.265+113570T=)
c.381T= (p.Pro127=)
c.954T= (p.Pro318=)
n.13984T=
c.13968T= (p.Pro4656=)
c.13890T= (p.Pro4630=)
c.11274T= (p.Pro3758=)
c.13992T= (p.Pro4664=)
c.13989T= (p.Pro4663=)
c.13911T= (p.Pro4637=)
c.13896T= (p.Pro4632=)
c.7110T= (p.Pro2370=)
c.7089T= (p.Pro2363=)
n.13987T=
5g.90789780C>ACA360398896ADGRV1c.13972C>A (p.Leu4658Met)
c.2926C>A (p.Leu976Met)
n.1239C>A
c.601C>A (p.Leu201Met)
c.265+113571C>A (n.265+113571C>A)
c.382C>A (p.Leu128Met)
c.955C>A (p.Leu319Met)
n.13985C>A
c.13969C>A (p.Leu4657Met)
c.13891C>A (p.Leu4631Met)
c.11275C>A (p.Leu3759Met)
c.13993C>A (p.Leu4665Met)
c.13990C>A (p.Leu4664Met)
c.13912C>A (p.Leu4638Met)
c.13897C>A (p.Leu4633Met)
c.7111C>A (p.Leu2371Met)
c.7090C>A (p.Leu2364Met)
n.13988C>A
 gnomAD v4
5g.90789780C>GCA360398897ADGRV1c.13972C>G (p.Leu4658Val)
c.2926C>G (p.Leu976Val)
n.1239C>G
c.601C>G (p.Leu201Val)
c.265+113571C>G (n.265+113571C>G)
c.382C>G (p.Leu128Val)
c.955C>G (p.Leu319Val)
n.13985C>G
c.13969C>G (p.Leu4657Val)
c.13891C>G (p.Leu4631Val)
c.11275C>G (p.Leu3759Val)
c.13993C>G (p.Leu4665Val)
c.13990C>G (p.Leu4664Val)
c.13912C>G (p.Leu4638Val)
c.13897C>G (p.Leu4633Val)
c.7111C>G (p.Leu2371Val)
c.7090C>G (p.Leu2364Val)
n.13988C>G
5g.90789780C>TCA445415833ADGRV1c.13972C>T (p.Leu4658=)
c.2926C>T (p.Leu976=)
n.1239C>T
c.601C>T (p.Leu201=)
c.265+113571C>T (n.265+113571C>T)
c.382C>T (p.Leu128=)
c.955C>T (p.Leu319=)
n.13985C>T
c.13969C>T (p.Leu4657=)
c.13891C>T (p.Leu4631=)
c.11275C>T (p.Leu3759=)
c.13993C>T (p.Leu4665=)
c.13990C>T (p.Leu4664=)
c.13912C>T (p.Leu4638=)
c.13897C>T (p.Leu4633=)
c.7111C>T (p.Leu2371=)
c.7090C>T (p.Leu2364=)
n.13988C>T
5g.90789781T>ACA360398900ADGRV1c.13973T>A (p.Leu4658Gln)
c.2927T>A (p.Leu976Gln)
n.1240T>A
c.602T>A (p.Leu201Gln)
c.265+113572T>A (n.265+113572T>A)
c.383T>A (p.Leu128Gln)
c.956T>A (p.Leu319Gln)
n.13986T>A
c.13970T>A (p.Leu4657Gln)
c.13892T>A (p.Leu4631Gln)
c.11276T>A (p.Leu3759Gln)
c.13994T>A (p.Leu4665Gln)
c.13991T>A (p.Leu4664Gln)
c.13913T>A (p.Leu4638Gln)
c.13898T>A (p.Leu4633Gln)
c.7112T>A (p.Leu2371Gln)
c.7091T>A (p.Leu2364Gln)
n.13989T>A
5g.90789781T>CCA122810865ADGRV1c.13973T>C (p.Leu4658Pro)
c.2927T>C (p.Leu976Pro)
n.1240T>C
c.602T>C (p.Leu201Pro)
c.265+113572T>C (n.265+113572T>C)
c.383T>C (p.Leu128Pro)
c.956T>C (p.Leu319Pro)
n.13986T>C
c.13970T>C (p.Leu4657Pro)
c.13892T>C (p.Leu4631Pro)
c.11276T>C (p.Leu3759Pro)
c.13994T>C (p.Leu4665Pro)
c.13991T>C (p.Leu4664Pro)
c.13913T>C (p.Leu4638Pro)
c.13898T>C (p.Leu4633Pro)
c.7112T>C (p.Leu2371Pro)
c.7091T>C (p.Leu2364Pro)
n.13989T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90789781T>GCA360398902ADGRV1c.13973T>G (p.Leu4658Arg)
c.2927T>G (p.Leu976Arg)
n.1240T>G
c.602T>G (p.Leu201Arg)
c.265+113572T>G (n.265+113572T>G)
c.383T>G (p.Leu128Arg)
c.956T>G (p.Leu319Arg)
n.13986T>G
c.13970T>G (p.Leu4657Arg)
c.13892T>G (p.Leu4631Arg)
c.11276T>G (p.Leu3759Arg)
c.13994T>G (p.Leu4665Arg)
c.13991T>G (p.Leu4664Arg)
c.13913T>G (p.Leu4638Arg)
c.13898T>G (p.Leu4633Arg)
c.7112T>G (p.Leu2371Arg)
c.7091T>G (p.Leu2364Arg)
n.13989T>G
5g.90789781T=CA1562901687ADGRV1c.13973T= (p.Leu4658=)
c.2927T= (p.Leu976=)
n.1240T=
c.602T= (p.Leu201=)
c.265+113572T= (n.265+113572T=)
c.383T= (p.Leu128=)
c.956T= (p.Leu319=)
n.13986T=
c.13970T= (p.Leu4657=)
c.13892T= (p.Leu4631=)
c.11276T= (p.Leu3759=)
c.13994T= (p.Leu4665=)
c.13991T= (p.Leu4664=)
c.13913T= (p.Leu4638=)
c.13898T= (p.Leu4633=)
c.7112T= (p.Leu2371=)
c.7091T= (p.Leu2364=)
n.13989T=
5g.90789782G>ACA445415842ADGRV1c.13974G>A (p.Leu4658=)
c.2928G>A (p.Leu976=)
n.1241G>A
c.603G>A (p.Leu201=)
c.265+113573G>A (n.265+113573G>A)
c.384G>A (p.Leu128=)
c.957G>A (p.Leu319=)
n.13987G>A
c.13971G>A (p.Leu4657=)
c.13893G>A (p.Leu4631=)
c.11277G>A (p.Leu3759=)
c.13995G>A (p.Leu4665=)
c.13992G>A (p.Leu4664=)
c.13914G>A (p.Leu4638=)
c.13899G>A (p.Leu4633=)
c.7113G>A (p.Leu2371=)
c.7092G>A (p.Leu2364=)
n.13990G>A
5g.90789782G>CCA445415841ADGRV1c.13974G>C (p.Leu4658=)
c.2928G>C (p.Leu976=)
n.1241G>C
c.603G>C (p.Leu201=)
c.265+113573G>C (n.265+113573G>C)
c.384G>C (p.Leu128=)
c.957G>C (p.Leu319=)
n.13987G>C
c.13971G>C (p.Leu4657=)
c.13893G>C (p.Leu4631=)
c.11277G>C (p.Leu3759=)
c.13995G>C (p.Leu4665=)
c.13992G>C (p.Leu4664=)
c.13914G>C (p.Leu4638=)
c.13899G>C (p.Leu4633=)
c.7113G>C (p.Leu2371=)
c.7092G>C (p.Leu2364=)
n.13990G>C
5g.90789782G>TCA445415839ADGRV1c.13974G>T (p.Leu4658=)
c.2928G>T (p.Leu976=)
n.1241G>T
c.603G>T (p.Leu201=)
c.265+113573G>T (n.265+113573G>T)
c.384G>T (p.Leu128=)
c.957G>T (p.Leu319=)
n.13987G>T
c.13971G>T (p.Leu4657=)
c.13893G>T (p.Leu4631=)
c.11277G>T (p.Leu3759=)
c.13995G>T (p.Leu4665=)
c.13992G>T (p.Leu4664=)
c.13914G>T (p.Leu4638=)
c.13899G>T (p.Leu4633=)
c.7113G>T (p.Leu2371=)
c.7092G>T (p.Leu2364=)
n.13990G>T
 gnomAD v4
5g.90789783G>ACA360398904ADGRV1c.13975G>A (p.Ala4659Thr)
c.2929G>A (p.Ala977Thr)
n.1242G>A
c.604G>A (p.Ala202Thr)
c.265+113574G>A (n.265+113574G>A)
c.385G>A (p.Ala129Thr)
c.958G>A (p.Ala320Thr)
n.13988G>A
c.13972G>A (p.Ala4658Thr)
c.13894G>A (p.Ala4632Thr)
c.11278G>A (p.Ala3760Thr)
c.13996G>A (p.Ala4666Thr)
c.13993G>A (p.Ala4665Thr)
c.13915G>A (p.Ala4639Thr)
c.13900G>A (p.Ala4634Thr)
c.7114G>A (p.Ala2372Thr)
c.7093G>A (p.Ala2365Thr)
n.13991G>A
5g.90789783G>CCA360398906ADGRV1c.13975G>C (p.Ala4659Pro)
c.2929G>C (p.Ala977Pro)
n.1242G>C
c.604G>C (p.Ala202Pro)
c.265+113574G>C (n.265+113574G>C)
c.385G>C (p.Ala129Pro)
c.958G>C (p.Ala320Pro)
n.13988G>C
c.13972G>C (p.Ala4658Pro)
c.13894G>C (p.Ala4632Pro)
c.11278G>C (p.Ala3760Pro)
c.13996G>C (p.Ala4666Pro)
c.13993G>C (p.Ala4665Pro)
c.13915G>C (p.Ala4639Pro)
c.13900G>C (p.Ala4634Pro)
c.7114G>C (p.Ala2372Pro)
c.7093G>C (p.Ala2365Pro)
n.13991G>C
5g.90789783G>TCA360398908ADGRV1c.13975G>T (p.Ala4659Ser)
c.2929G>T (p.Ala977Ser)
n.1242G>T
c.604G>T (p.Ala202Ser)
c.265+113574G>T (n.265+113574G>T)
c.385G>T (p.Ala129Ser)
c.958G>T (p.Ala320Ser)
n.13988G>T
c.13972G>T (p.Ala4658Ser)
c.13894G>T (p.Ala4632Ser)
c.11278G>T (p.Ala3760Ser)
c.13996G>T (p.Ala4666Ser)
c.13993G>T (p.Ala4665Ser)
c.13915G>T (p.Ala4639Ser)
c.13900G>T (p.Ala4634Ser)
c.7114G>T (p.Ala2372Ser)
c.7093G>T (p.Ala2365Ser)
n.13991G>T
 gnomAD v4
5g.90789784C>ACA360398910ADGRV1c.13976C>A (p.Ala4659Asp)
c.2930C>A (p.Ala977Asp)
n.1243C>A
c.605C>A (p.Ala202Asp)
c.265+113575C>A (n.265+113575C>A)
c.386C>A (p.Ala129Asp)
c.959C>A (p.Ala320Asp)
n.13989C>A
c.13973C>A (p.Ala4658Asp)
c.13895C>A (p.Ala4632Asp)
c.11279C>A (p.Ala3760Asp)
c.13997C>A (p.Ala4666Asp)
c.13994C>A (p.Ala4665Asp)
c.13916C>A (p.Ala4639Asp)
c.13901C>A (p.Ala4634Asp)
c.7115C>A (p.Ala2372Asp)
c.7094C>A (p.Ala2365Asp)
n.13992C>A
 gnomAD v4
5g.90789784C>GCA360398912ADGRV1c.13976C>G (p.Ala4659Gly)
c.2930C>G (p.Ala977Gly)
n.1243C>G
c.605C>G (p.Ala202Gly)
c.265+113575C>G (n.265+113575C>G)
c.386C>G (p.Ala129Gly)
c.959C>G (p.Ala320Gly)
n.13989C>G
c.13973C>G (p.Ala4658Gly)
c.13895C>G (p.Ala4632Gly)
c.11279C>G (p.Ala3760Gly)
c.13997C>G (p.Ala4666Gly)
c.13994C>G (p.Ala4665Gly)
c.13916C>G (p.Ala4639Gly)
c.13901C>G (p.Ala4634Gly)
c.7115C>G (p.Ala2372Gly)
c.7094C>G (p.Ala2365Gly)
n.13992C>G
5g.90789784C>TCA360398913ADGRV1c.13976C>T (p.Ala4659Val)
c.2930C>T (p.Ala977Val)
n.1243C>T
c.605C>T (p.Ala202Val)
c.265+113575C>T (n.265+113575C>T)
c.386C>T (p.Ala129Val)
c.959C>T (p.Ala320Val)
n.13989C>T
c.13973C>T (p.Ala4658Val)
c.13895C>T (p.Ala4632Val)
c.11279C>T (p.Ala3760Val)
c.13997C>T (p.Ala4666Val)
c.13994C>T (p.Ala4665Val)
c.13916C>T (p.Ala4639Val)
c.13901C>T (p.Ala4634Val)
c.7115C>T (p.Ala2372Val)
c.7094C>T (p.Ala2365Val)
n.13992C>T
 gnomAD v4
5g.90789785T>ACA445415849ADGRV1c.13977T>A (p.Ala4659=)
c.2931T>A (p.Ala977=)
n.1244T>A
c.606T>A (p.Ala202=)
c.265+113576T>A (n.265+113576T>A)
c.387T>A (p.Ala129=)
c.960T>A (p.Ala320=)
n.13990T>A
c.13974T>A (p.Ala4658=)
c.13896T>A (p.Ala4632=)
c.11280T>A (p.Ala3760=)
c.13998T>A (p.Ala4666=)
c.13995T>A (p.Ala4665=)
c.13917T>A (p.Ala4639=)
c.13902T>A (p.Ala4634=)
c.7116T>A (p.Ala2372=)
c.7095T>A (p.Ala2365=)
n.13993T>A
5g.90789785T>CCA445415848ADGRV1c.13977T>C (p.Ala4659=)
c.2931T>C (p.Ala977=)
n.1244T>C
c.606T>C (p.Ala202=)
c.265+113576T>C (n.265+113576T>C)
c.387T>C (p.Ala129=)
c.960T>C (p.Ala320=)
n.13990T>C
c.13974T>C (p.Ala4658=)
c.13896T>C (p.Ala4632=)
c.11280T>C (p.Ala3760=)
c.13998T>C (p.Ala4666=)
c.13995T>C (p.Ala4665=)
c.13917T>C (p.Ala4639=)
c.13902T>C (p.Ala4634=)
c.7116T>C (p.Ala2372=)
c.7095T>C (p.Ala2365=)
n.13993T>C
5g.90789785T>GCA445415846ADGRV1c.13977T>G (p.Ala4659=)
c.2931T>G (p.Ala977=)
n.1244T>G
c.606T>G (p.Ala202=)
c.265+113576T>G (n.265+113576T>G)
c.387T>G (p.Ala129=)
c.960T>G (p.Ala320=)
n.13990T>G
c.13974T>G (p.Ala4658=)
c.13896T>G (p.Ala4632=)
c.11280T>G (p.Ala3760=)
c.13998T>G (p.Ala4666=)
c.13995T>G (p.Ala4665=)
c.13917T>G (p.Ala4639=)
c.13902T>G (p.Ala4634=)
c.7116T>G (p.Ala2372=)
c.7095T>G (p.Ala2365=)
n.13993T>G
5g.90789786C>ACA360398915ADGRV1c.13978C>A (p.Leu4660Met)
c.2932C>A (p.Leu978Met)
n.1245C>A
c.607C>A (p.Leu203Met)
c.265+113577C>A (n.265+113577C>A)
c.388C>A (p.Leu130Met)
c.961C>A (p.Leu321Met)
n.13991C>A
c.13975C>A (p.Leu4659Met)
c.13897C>A (p.Leu4633Met)
c.11281C>A (p.Leu3761Met)
c.13999C>A (p.Leu4667Met)
c.13996C>A (p.Leu4666Met)
c.13918C>A (p.Leu4640Met)
c.13903C>A (p.Leu4635Met)
c.7117C>A (p.Leu2373Met)
c.7096C>A (p.Leu2366Met)
n.13994C>A
 gnomAD v4
5g.90789786C>GCA360398918ADGRV1c.13978C>G (p.Leu4660Val)
c.2932C>G (p.Leu978Val)
n.1245C>G
c.607C>G (p.Leu203Val)
c.265+113577C>G (n.265+113577C>G)
c.388C>G (p.Leu130Val)
c.961C>G (p.Leu321Val)
n.13991C>G
c.13975C>G (p.Leu4659Val)
c.13897C>G (p.Leu4633Val)
c.11281C>G (p.Leu3761Val)
c.13999C>G (p.Leu4667Val)
c.13996C>G (p.Leu4666Val)
c.13918C>G (p.Leu4640Val)
c.13903C>G (p.Leu4635Val)
c.7117C>G (p.Leu2373Val)
c.7096C>G (p.Leu2366Val)
n.13994C>G
5g.90789786C>TCA445415850ADGRV1c.13978C>T (p.Leu4660=)
c.2932C>T (p.Leu978=)
n.1245C>T
c.607C>T (p.Leu203=)
c.265+113577C>T (n.265+113577C>T)
c.388C>T (p.Leu130=)
c.961C>T (p.Leu321=)
n.13991C>T
c.13975C>T (p.Leu4659=)
c.13897C>T (p.Leu4633=)
c.11281C>T (p.Leu3761=)
c.13999C>T (p.Leu4667=)
c.13996C>T (p.Leu4666=)
c.13918C>T (p.Leu4640=)
c.13903C>T (p.Leu4635=)
c.7117C>T (p.Leu2373=)
c.7096C>T (p.Leu2366=)
n.13994C>T
5g.90789787T>ACA360398920ADGRV1c.13979T>A (p.Leu4660Gln)
c.2933T>A (p.Leu978Gln)
n.1246T>A
c.608T>A (p.Leu203Gln)
c.265+113578T>A (n.265+113578T>A)
c.389T>A (p.Leu130Gln)
c.962T>A (p.Leu321Gln)
n.13992T>A
c.13976T>A (p.Leu4659Gln)
c.13898T>A (p.Leu4633Gln)
c.11282T>A (p.Leu3761Gln)
c.14000T>A (p.Leu4667Gln)
c.13997T>A (p.Leu4666Gln)
c.13919T>A (p.Leu4640Gln)
c.13904T>A (p.Leu4635Gln)
c.7118T>A (p.Leu2373Gln)
c.7097T>A (p.Leu2366Gln)
n.13995T>A
5g.90789787T>CCA360398923ADGRV1c.13979T>C (p.Leu4660Pro)
c.2933T>C (p.Leu978Pro)
n.1246T>C
c.608T>C (p.Leu203Pro)
c.265+113578T>C (n.265+113578T>C)
c.389T>C (p.Leu130Pro)
c.962T>C (p.Leu321Pro)
n.13992T>C
c.13976T>C (p.Leu4659Pro)
c.13898T>C (p.Leu4633Pro)
c.11282T>C (p.Leu3761Pro)
c.14000T>C (p.Leu4667Pro)
c.13997T>C (p.Leu4666Pro)
c.13919T>C (p.Leu4640Pro)
c.13904T>C (p.Leu4635Pro)
c.7118T>C (p.Leu2373Pro)
c.7097T>C (p.Leu2366Pro)
n.13995T>C
 gnomAD v4
5g.90789787T>GCA360398924ADGRV1c.13979T>G (p.Leu4660Arg)
c.2933T>G (p.Leu978Arg)
n.1246T>G
c.608T>G (p.Leu203Arg)
c.265+113578T>G (n.265+113578T>G)
c.389T>G (p.Leu130Arg)
c.962T>G (p.Leu321Arg)
n.13992T>G
c.13976T>G (p.Leu4659Arg)
c.13898T>G (p.Leu4633Arg)
c.11282T>G (p.Leu3761Arg)
c.14000T>G (p.Leu4667Arg)
c.13997T>G (p.Leu4666Arg)
c.13919T>G (p.Leu4640Arg)
c.13904T>G (p.Leu4635Arg)
c.7118T>G (p.Leu2373Arg)
c.7097T>G (p.Leu2366Arg)
n.13995T>G
 dbSNP
5g.90789787T=CA1562901688ADGRV1c.13979T= (p.Leu4660=)
c.2933T= (p.Leu978=)
n.1246T=
c.608T= (p.Leu203=)
c.265+113578T= (n.265+113578T=)
c.389T= (p.Leu130=)
c.962T= (p.Leu321=)
n.13992T=
c.13976T= (p.Leu4659=)
c.13898T= (p.Leu4633=)
c.11282T= (p.Leu3761=)
c.14000T= (p.Leu4667=)
c.13997T= (p.Leu4666=)
c.13919T= (p.Leu4640=)
c.13904T= (p.Leu4635=)
c.7118T= (p.Leu2373=)
c.7097T= (p.Leu2366=)
n.13995T=
5g.90789788G>ACA445415857ADGRV1c.13980G>A (p.Leu4660=)
c.2934G>A (p.Leu978=)
n.1247G>A
c.609G>A (p.Leu203=)
c.265+113579G>A (n.265+113579G>A)
c.390G>A (p.Leu130=)
c.963G>A (p.Leu321=)
n.13993G>A
c.13977G>A (p.Leu4659=)
c.13899G>A (p.Leu4633=)
c.11283G>A (p.Leu3761=)
c.14001G>A (p.Leu4667=)
c.13998G>A (p.Leu4666=)
c.13920G>A (p.Leu4640=)
c.13905G>A (p.Leu4635=)
c.7119G>A (p.Leu2373=)
c.7098G>A (p.Leu2366=)
n.13996G>A
 gnomAD v4
5g.90789788G>CCA445415854ADGRV1c.13980G>C (p.Leu4660=)
c.2934G>C (p.Leu978=)
n.1247G>C
c.609G>C (p.Leu203=)
c.265+113579G>C (n.265+113579G>C)
c.390G>C (p.Leu130=)
c.963G>C (p.Leu321=)
n.13993G>C
c.13977G>C (p.Leu4659=)
c.13899G>C (p.Leu4633=)
c.11283G>C (p.Leu3761=)
c.14001G>C (p.Leu4667=)
c.13998G>C (p.Leu4666=)
c.13920G>C (p.Leu4640=)
c.13905G>C (p.Leu4635=)
c.7119G>C (p.Leu2373=)
c.7098G>C (p.Leu2366=)
n.13996G>C
5g.90789788G>TCA445415856ADGRV1c.13980G>T (p.Leu4660=)
c.2934G>T (p.Leu978=)
n.1247G>T
c.609G>T (p.Leu203=)
c.265+113579G>T (n.265+113579G>T)
c.390G>T (p.Leu130=)
c.963G>T (p.Leu321=)
n.13993G>T
c.13977G>T (p.Leu4659=)
c.13899G>T (p.Leu4633=)
c.11283G>T (p.Leu3761=)
c.14001G>T (p.Leu4667=)
c.13998G>T (p.Leu4666=)
c.13920G>T (p.Leu4640=)
c.13905G>T (p.Leu4635=)
c.7119G>T (p.Leu2373=)
c.7098G>T (p.Leu2366=)
n.13996G>T
 gnomAD v4
5g.90789789delCA2674571735ADGRV1c.13981del (p.Glu4661LysfsTer26)
c.2935del (p.Glu979LysfsTer26)
n.1248del
c.610del (p.Glu204LysfsTer26)
c.265+113580del (n.265+113580del)
c.391del (p.Glu131LysfsTer26)
c.964del (p.Glu322LysfsTer26)
n.13994del
c.13978del (p.Glu4660LysfsTer26)
c.13900del (p.Glu4634LysfsTer26)
c.11284del (p.Glu3762LysfsTer26)
c.14002del (p.Glu4668LysfsTer26)
c.13999del (p.Glu4667LysfsTer26)
c.13921del (p.Glu4641LysfsTer26)
c.13906del (p.Glu4636LysfsTer26)
c.7120del (p.Glu2374LysfsTer26)
c.7099del (p.Glu2367LysfsTer26)
n.13997del
 gnomAD v4
5g.90789789G>ACA122810868ADGRV1c.13981G>A (p.Glu4661Lys)
c.2935G>A (p.Glu979Lys)
n.1248G>A
c.610G>A (p.Glu204Lys)
c.265+113580G>A (n.265+113580G>A)
c.391G>A (p.Glu131Lys)
c.964G>A (p.Glu322Lys)
n.13994G>A
c.13978G>A (p.Glu4660Lys)
c.13900G>A (p.Glu4634Lys)
c.11284G>A (p.Glu3762Lys)
c.14002G>A (p.Glu4668Lys)
c.13999G>A (p.Glu4667Lys)
c.13921G>A (p.Glu4641Lys)
c.13906G>A (p.Glu4636Lys)
c.7120G>A (p.Glu2374Lys)
c.7099G>A (p.Glu2367Lys)
n.13997G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90789789G>CCA360398931ADGRV1c.13981G>C (p.Glu4661Gln)
c.2935G>C (p.Glu979Gln)
n.1248G>C
c.610G>C (p.Glu204Gln)
c.265+113580G>C (n.265+113580G>C)
c.391G>C (p.Glu131Gln)
c.964G>C (p.Glu322Gln)
n.13994G>C
c.13978G>C (p.Glu4660Gln)
c.13900G>C (p.Glu4634Gln)
c.11284G>C (p.Glu3762Gln)
c.14002G>C (p.Glu4668Gln)
c.13999G>C (p.Glu4667Gln)
c.13921G>C (p.Glu4641Gln)
c.13906G>C (p.Glu4636Gln)
c.7120G>C (p.Glu2374Gln)
c.7099G>C (p.Glu2367Gln)
n.13997G>C
 gnomAD v4
5g.90789789G=CA1562901690ADGRV1c.13981G= (p.Glu4661=)
c.2935G= (p.Glu979=)
n.1248G=
c.610G= (p.Glu204=)
c.265+113580G= (n.265+113580G=)
c.391G= (p.Glu131=)
c.964G= (p.Glu322=)
n.13994G=
c.13978G= (p.Glu4660=)
c.13900G= (p.Glu4634=)
c.11284G= (p.Glu3762=)
c.14002G= (p.Glu4668=)
c.13999G= (p.Glu4667=)
c.13921G= (p.Glu4641=)
c.13906G= (p.Glu4636=)
c.7120G= (p.Glu2374=)
c.7099G= (p.Glu2367=)
n.13997G=
5g.90789789G>TCA360398928ADGRV1c.13981G>T (p.Glu4661Ter)
c.2935G>T (p.Glu979Ter)
n.1248G>T
c.610G>T (p.Glu204Ter)
c.265+113580G>T (n.265+113580G>T)
c.391G>T (p.Glu131Ter)
c.964G>T (p.Glu322Ter)
n.13994G>T
c.13978G>T (p.Glu4660Ter)
c.13900G>T (p.Glu4634Ter)
c.11284G>T (p.Glu3762Ter)
c.14002G>T (p.Glu4668Ter)
c.13999G>T (p.Glu4667Ter)
c.13921G>T (p.Glu4641Ter)
c.13906G>T (p.Glu4636Ter)
c.7120G>T (p.Glu2374Ter)
c.7099G>T (p.Glu2367Ter)
n.13997G>T
5g.90789789_90789790delinsGACA1562901689ADGRV1c.13981_13982delinsGA (p.Glu4661=)
c.2935_2936delinsGA (p.Glu979=)
n.1248_1249delinsGA
c.610_611delinsGA (p.Glu204=)
c.265+113580_265+113581delinsGA (n.265+113580_265+113581delinsGA)
c.391_392delinsGA (p.Glu131=)
c.964_965delinsGA (p.Glu322=)
n.13994_13995delinsGA
c.13978_13979delinsGA (p.Glu4660=)
c.13900_13901delinsGA (p.Glu4634=)
c.11284_11285delinsGA (p.Glu3762=)
c.14002_14003delinsGA (p.Glu4668=)
c.13999_14000delinsGA (p.Glu4667=)
c.13921_13922delinsGA (p.Glu4641=)
c.13906_13907delinsGA (p.Glu4636=)
c.7120_7121delinsGA (p.Glu2374=)
c.7099_7100delinsGA (p.Glu2367=)
n.13997_13998delinsGA
5g.90789790A>CCA360398933ADGRV1c.13982A>C (p.Glu4661Ala)
c.2936A>C (p.Glu979Ala)
n.1249A>C
c.611A>C (p.Glu204Ala)
c.265+113581A>C (n.265+113581A>C)
c.392A>C (p.Glu131Ala)
c.965A>C (p.Glu322Ala)
n.13995A>C
c.13979A>C (p.Glu4660Ala)
c.13901A>C (p.Glu4634Ala)
c.11285A>C (p.Glu3762Ala)
c.14003A>C (p.Glu4668Ala)
c.14000A>C (p.Glu4667Ala)
c.13922A>C (p.Glu4641Ala)
c.13907A>C (p.Glu4636Ala)
c.7121A>C (p.Glu2374Ala)
c.7100A>C (p.Glu2367Ala)
n.13998A>C
 gnomAD v4
5g.90789790A>GCA360398935ADGRV1c.13982A>G (p.Glu4661Gly)
c.2936A>G (p.Glu979Gly)
n.1249A>G
c.611A>G (p.Glu204Gly)
c.265+113581A>G (n.265+113581A>G)
c.392A>G (p.Glu131Gly)
c.965A>G (p.Glu322Gly)
n.13995A>G
c.13979A>G (p.Glu4660Gly)
c.13901A>G (p.Glu4634Gly)
c.11285A>G (p.Glu3762Gly)
c.14003A>G (p.Glu4668Gly)
c.14000A>G (p.Glu4667Gly)
c.13922A>G (p.Glu4641Gly)
c.13907A>G (p.Glu4636Gly)
c.7121A>G (p.Glu2374Gly)
c.7100A>G (p.Glu2367Gly)
n.13998A>G
 gnomAD v4
5g.90789790A>TCA360398937ADGRV1c.13982A>T (p.Glu4661Val)
c.2936A>T (p.Glu979Val)
n.1249A>T
c.611A>T (p.Glu204Val)
c.265+113581A>T (n.265+113581A>T)
c.392A>T (p.Glu131Val)
c.965A>T (p.Glu322Val)
n.13995A>T
c.13979A>T (p.Glu4660Val)
c.13901A>T (p.Glu4634Val)
c.11285A>T (p.Glu3762Val)
c.14003A>T (p.Glu4668Val)
c.14000A>T (p.Glu4667Val)
c.13922A>T (p.Glu4641Val)
c.13907A>T (p.Glu4636Val)
c.7121A>T (p.Glu2374Val)
c.7100A>T (p.Glu2367Val)
n.13998A>T
5g.90789791delCA3341647ADGRV1c.13983del (p.Leu4664CysfsTer23)
c.2937del (p.Leu982CysfsTer23)
n.1250del
c.612del (p.Leu207CysfsTer23)
c.265+113582del (n.265+113582del)
c.393del (p.Leu134CysfsTer23)
c.966del (p.Leu325CysfsTer23)
n.13996del
c.13980del (p.Leu4663CysfsTer23)
c.13902del (p.Leu4637CysfsTer23)
c.11286del (p.Leu3765CysfsTer23)
c.14004del (p.Leu4671CysfsTer23)
c.14001del (p.Leu4670CysfsTer23)
c.13923del (p.Leu4644CysfsTer23)
c.13908del (p.Leu4639CysfsTer23)
c.7122del (p.Leu2377CysfsTer23)
c.7101del (p.Leu2370CysfsTer23)
n.13999del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90789791A>CCA360398940ADGRV1c.13983A>C (p.Glu4661Asp)
c.2937A>C (p.Glu979Asp)
n.1250A>C
c.612A>C (p.Glu204Asp)
c.265+113582A>C (n.265+113582A>C)
c.393A>C (p.Glu131Asp)
c.966A>C (p.Glu322Asp)
n.13996A>C
c.13980A>C (p.Glu4660Asp)
c.13902A>C (p.Glu4634Asp)
c.11286A>C (p.Glu3762Asp)
c.14004A>C (p.Glu4668Asp)
c.14001A>C (p.Glu4667Asp)
c.13923A>C (p.Glu4641Asp)
c.13908A>C (p.Glu4636Asp)
c.7122A>C (p.Glu2374Asp)
c.7101A>C (p.Glu2367Asp)
n.13999A>C
5g.90789791A>GCA445415862ADGRV1c.13983A>G (p.Glu4661=)
c.2937A>G (p.Glu979=)
n.1250A>G
c.612A>G (p.Glu204=)
c.265+113582A>G (n.265+113582A>G)
c.393A>G (p.Glu131=)
c.966A>G (p.Glu322=)
n.13996A>G
c.13980A>G (p.Glu4660=)
c.13902A>G (p.Glu4634=)
c.11286A>G (p.Glu3762=)
c.14004A>G (p.Glu4668=)
c.14001A>G (p.Glu4667=)
c.13923A>G (p.Glu4641=)
c.13908A>G (p.Glu4636=)
c.7122A>G (p.Glu2374=)
c.7101A>G (p.Glu2367=)
n.13999A>G
 gnomAD v4
5g.90789791A>TCA360398942ADGRV1c.13983A>T (p.Glu4661Asp)
c.2937A>T (p.Glu979Asp)
n.1250A>T
c.612A>T (p.Glu204Asp)
c.265+113582A>T (n.265+113582A>T)
c.393A>T (p.Glu131Asp)
c.966A>T (p.Glu322Asp)
n.13996A>T
c.13980A>T (p.Glu4660Asp)
c.13902A>T (p.Glu4634Asp)
c.11286A>T (p.Glu3762Asp)
c.14004A>T (p.Glu4668Asp)
c.14001A>T (p.Glu4667Asp)
c.13923A>T (p.Glu4641Asp)
c.13908A>T (p.Glu4636Asp)
c.7122A>T (p.Glu2374Asp)
c.7101A>T (p.Glu2367Asp)
n.13999A>T
5g.90789792G>ACA360398944ADGRV1c.13984G>A (p.Gly4662Arg)
c.2938G>A (p.Gly980Arg)
n.1251G>A
c.613G>A (p.Gly205Arg)
c.265+113583G>A (n.265+113583G>A)
c.394G>A (p.Gly132Arg)
c.967G>A (p.Gly323Arg)
n.13997G>A
c.13981G>A (p.Gly4661Arg)
c.13903G>A (p.Gly4635Arg)
c.11287G>A (p.Gly3763Arg)
c.14005G>A (p.Gly4669Arg)
c.14002G>A (p.Gly4668Arg)
c.13924G>A (p.Gly4642Arg)
c.13909G>A (p.Gly4637Arg)
c.7123G>A (p.Gly2375Arg)
c.7102G>A (p.Gly2368Arg)
n.14000G>A
 gnomAD v4
5g.90789792G>CCA360398945ADGRV1c.13984G>C (p.Gly4662Arg)
c.2938G>C (p.Gly980Arg)
n.1251G>C
c.613G>C (p.Gly205Arg)
c.265+113583G>C (n.265+113583G>C)
c.394G>C (p.Gly132Arg)
c.967G>C (p.Gly323Arg)
n.13997G>C
c.13981G>C (p.Gly4661Arg)
c.13903G>C (p.Gly4635Arg)
c.11287G>C (p.Gly3763Arg)
c.14005G>C (p.Gly4669Arg)
c.14002G>C (p.Gly4668Arg)
c.13924G>C (p.Gly4642Arg)
c.13909G>C (p.Gly4637Arg)
c.7123G>C (p.Gly2375Arg)
c.7102G>C (p.Gly2368Arg)
n.14000G>C
5g.90789792G>TCA360398946ADGRV1c.13984G>T (p.Gly4662Trp)
c.2938G>T (p.Gly980Trp)
n.1251G>T
c.613G>T (p.Gly205Trp)
c.265+113583G>T (n.265+113583G>T)
c.394G>T (p.Gly132Trp)
c.967G>T (p.Gly323Trp)
n.13997G>T
c.13981G>T (p.Gly4661Trp)
c.13903G>T (p.Gly4635Trp)
c.11287G>T (p.Gly3763Trp)
c.14005G>T (p.Gly4669Trp)
c.14002G>T (p.Gly4668Trp)
c.13924G>T (p.Gly4642Trp)
c.13909G>T (p.Gly4637Trp)
c.7123G>T (p.Gly2375Trp)
c.7102G>T (p.Gly2368Trp)
n.14000G>T
 gnomAD v4
5g.90789793G>ACA3341648ADGRV1c.13985G>A (p.Gly4662Glu)
c.2939G>A (p.Gly980Glu)
n.1252G>A
c.614G>A (p.Gly205Glu)
c.265+113584G>A (n.265+113584G>A)
c.395G>A (p.Gly132Glu)
c.968G>A (p.Gly323Glu)
n.13998G>A
c.13982G>A (p.Gly4661Glu)
c.13904G>A (p.Gly4635Glu)
c.11288G>A (p.Gly3763Glu)
c.14006G>A (p.Gly4669Glu)
c.14003G>A (p.Gly4668Glu)
c.13925G>A (p.Gly4642Glu)
c.13910G>A (p.Gly4637Glu)
c.7124G>A (p.Gly2375Glu)
c.7103G>A (p.Gly2368Glu)
n.14001G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90789793G>CCA360398949ADGRV1c.13985G>C (p.Gly4662Ala)
c.2939G>C (p.Gly980Ala)
n.1252G>C
c.614G>C (p.Gly205Ala)
c.265+113584G>C (n.265+113584G>C)
c.395G>C (p.Gly132Ala)
c.968G>C (p.Gly323Ala)
n.13998G>C
c.13982G>C (p.Gly4661Ala)
c.13904G>C (p.Gly4635Ala)
c.11288G>C (p.Gly3763Ala)
c.14006G>C (p.Gly4669Ala)
c.14003G>C (p.Gly4668Ala)
c.13925G>C (p.Gly4642Ala)
c.13910G>C (p.Gly4637Ala)
c.7124G>C (p.Gly2375Ala)
c.7103G>C (p.Gly2368Ala)
n.14001G>C
5g.90789793G=CA1562901691ADGRV1c.13985G= (p.Gly4662=)
c.2939G= (p.Gly980=)
n.1252G=
c.614G= (p.Gly205=)
c.265+113584G= (n.265+113584G=)
c.395G= (p.Gly132=)
c.968G= (p.Gly323=)
n.13998G=
c.13982G= (p.Gly4661=)
c.13904G= (p.Gly4635=)
c.11288G= (p.Gly3763=)
c.14006G= (p.Gly4669=)
c.14003G= (p.Gly4668=)
c.13925G= (p.Gly4642=)
c.13910G= (p.Gly4637=)
c.7124G= (p.Gly2375=)
c.7103G= (p.Gly2368=)
n.14001G=
5g.90789793G>TCA360398951ADGRV1c.13985G>T (p.Gly4662Val)
c.2939G>T (p.Gly980Val)
n.1252G>T
c.614G>T (p.Gly205Val)
c.265+113584G>T (n.265+113584G>T)
c.395G>T (p.Gly132Val)
c.968G>T (p.Gly323Val)
n.13998G>T
c.13982G>T (p.Gly4661Val)
c.13904G>T (p.Gly4635Val)
c.11288G>T (p.Gly3763Val)
c.14006G>T (p.Gly4669Val)
c.14003G>T (p.Gly4668Val)
c.13925G>T (p.Gly4642Val)
c.13910G>T (p.Gly4637Val)
c.7124G>T (p.Gly2375Val)
c.7103G>T (p.Gly2368Val)
n.14001G>T
 dbSNP gnomAD v3 gnomAD v4
5g.90789794G>ACA445415867ADGRV1c.13986G>A (p.Gly4662=)
c.2940G>A (p.Gly980=)
n.1253G>A
c.615G>A (p.Gly205=)
c.265+113585G>A (n.265+113585G>A)
c.396G>A (p.Gly132=)
c.969G>A (p.Gly323=)
n.13999G>A
c.13983G>A (p.Gly4661=)
c.13905G>A (p.Gly4635=)
c.11289G>A (p.Gly3763=)
c.14007G>A (p.Gly4669=)
c.14004G>A (p.Gly4668=)
c.13926G>A (p.Gly4642=)
c.13911G>A (p.Gly4637=)
c.7125G>A (p.Gly2375=)
c.7104G>A (p.Gly2368=)
n.14002G>A
 gnomAD v4
5g.90789794G>CCA3341649ADGRV1c.13986G>C (p.Gly4662=)
c.2940G>C (p.Gly980=)
n.1253G>C
c.615G>C (p.Gly205=)
c.265+113585G>C (n.265+113585G>C)
c.396G>C (p.Gly132=)
c.969G>C (p.Gly323=)
n.13999G>C
c.13983G>C (p.Gly4661=)
c.13905G>C (p.Gly4635=)
c.11289G>C (p.Gly3763=)
c.14007G>C (p.Gly4669=)
c.14004G>C (p.Gly4668=)
c.13926G>C (p.Gly4642=)
c.13911G>C (p.Gly4637=)
c.7125G>C (p.Gly2375=)
c.7104G>C (p.Gly2368=)
n.14002G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90789794G=CA1562901692ADGRV1c.13986G= (p.Gly4662=)
c.2940G= (p.Gly980=)
n.1253G=
c.615G= (p.Gly205=)
c.265+113585G= (n.265+113585G=)
c.396G= (p.Gly132=)
c.969G= (p.Gly323=)
n.13999G=
c.13983G= (p.Gly4661=)
c.13905G= (p.Gly4635=)
c.11289G= (p.Gly3763=)
c.14007G= (p.Gly4669=)
c.14004G= (p.Gly4668=)
c.13926G= (p.Gly4642=)
c.13911G= (p.Gly4637=)
c.7125G= (p.Gly2375=)
c.7104G= (p.Gly2368=)
n.14002G=
5g.90789794G>TCA445415868ADGRV1c.13986G>T (p.Gly4662=)
c.2940G>T (p.Gly980=)
n.1253G>T
c.615G>T (p.Gly205=)
c.265+113585G>T (n.265+113585G>T)
c.396G>T (p.Gly132=)
c.969G>T (p.Gly323=)
n.13999G>T
c.13983G>T (p.Gly4661=)
c.13905G>T (p.Gly4635=)
c.11289G>T (p.Gly3763=)
c.14007G>T (p.Gly4669=)
c.14004G>T (p.Gly4668=)
c.13926G>T (p.Gly4642=)
c.13911G>T (p.Gly4637=)
c.7125G>T (p.Gly2375=)
c.7104G>T (p.Gly2368=)
n.14002G>T
 gnomAD v4
5g.90789795C>ACA360398957ADGRV1c.13987C>A (p.Pro4663Thr)
c.2941C>A (p.Pro981Thr)
n.1254C>A
c.616C>A (p.Pro206Thr)
c.265+113586C>A (n.265+113586C>A)
c.397C>A (p.Pro133Thr)
c.970C>A (p.Pro324Thr)
n.14000C>A
c.13984C>A (p.Pro4662Thr)
c.13906C>A (p.Pro4636Thr)
c.11290C>A (p.Pro3764Thr)
c.14008C>A (p.Pro4670Thr)
c.14005C>A (p.Pro4669Thr)
c.13927C>A (p.Pro4643Thr)
c.13912C>A (p.Pro4638Thr)
c.7126C>A (p.Pro2376Thr)
c.7105C>A (p.Pro2369Thr)
n.14003C>A
 gnomAD v4
5g.90789795C>GCA360398956ADGRV1c.13987C>G (p.Pro4663Ala)
c.2941C>G (p.Pro981Ala)
n.1254C>G
c.616C>G (p.Pro206Ala)
c.265+113586C>G (n.265+113586C>G)
c.397C>G (p.Pro133Ala)
c.970C>G (p.Pro324Ala)
n.14000C>G
c.13984C>G (p.Pro4662Ala)
c.13906C>G (p.Pro4636Ala)
c.11290C>G (p.Pro3764Ala)
c.14008C>G (p.Pro4670Ala)
c.14005C>G (p.Pro4669Ala)
c.13927C>G (p.Pro4643Ala)
c.13912C>G (p.Pro4638Ala)
c.7126C>G (p.Pro2376Ala)
c.7105C>G (p.Pro2369Ala)
n.14003C>G
5g.90789795C>TCA360398954ADGRV1c.13987C>T (p.Pro4663Ser)
c.2941C>T (p.Pro981Ser)
n.1254C>T
c.616C>T (p.Pro206Ser)
c.265+113586C>T (n.265+113586C>T)
c.397C>T (p.Pro133Ser)
c.970C>T (p.Pro324Ser)
n.14000C>T
c.13984C>T (p.Pro4662Ser)
c.13906C>T (p.Pro4636Ser)
c.11290C>T (p.Pro3764Ser)
c.14008C>T (p.Pro4670Ser)
c.14005C>T (p.Pro4669Ser)
c.13927C>T (p.Pro4643Ser)
c.13912C>T (p.Pro4638Ser)
c.7126C>T (p.Pro2376Ser)
c.7105C>T (p.Pro2369Ser)
n.14003C>T
 gnomAD v4
5g.90789796C>ACA360398960ADGRV1c.13988C>A (p.Pro4663His)
c.2942C>A (p.Pro981His)
n.1255C>A
c.617C>A (p.Pro206His)
c.265+113587C>A (n.265+113587C>A)
c.398C>A (p.Pro133His)
c.971C>A (p.Pro324His)
n.14001C>A
c.13985C>A (p.Pro4662His)
c.13907C>A (p.Pro4636His)
c.11291C>A (p.Pro3764His)
c.14009C>A (p.Pro4670His)
c.14006C>A (p.Pro4669His)
c.13928C>A (p.Pro4643His)
c.13913C>A (p.Pro4638His)
c.7127C>A (p.Pro2376His)
c.7106C>A (p.Pro2369His)
n.14004C>A
 gnomAD v4
5g.90789796C>GCA360398961ADGRV1c.13988C>G (p.Pro4663Arg)
c.2942C>G (p.Pro981Arg)
n.1255C>G
c.617C>G (p.Pro206Arg)
c.265+113587C>G (n.265+113587C>G)
c.398C>G (p.Pro133Arg)
c.971C>G (p.Pro324Arg)
n.14001C>G
c.13985C>G (p.Pro4662Arg)
c.13907C>G (p.Pro4636Arg)
c.11291C>G (p.Pro3764Arg)
c.14009C>G (p.Pro4670Arg)
c.14006C>G (p.Pro4669Arg)
c.13928C>G (p.Pro4643Arg)
c.13913C>G (p.Pro4638Arg)
c.7127C>G (p.Pro2376Arg)
c.7106C>G (p.Pro2369Arg)
n.14004C>G
5g.90789796C>TCA360398963ADGRV1c.13988C>T (p.Pro4663Leu)
c.2942C>T (p.Pro981Leu)
n.1255C>T
c.617C>T (p.Pro206Leu)
c.265+113587C>T (n.265+113587C>T)
c.398C>T (p.Pro133Leu)
c.971C>T (p.Pro324Leu)
n.14001C>T
c.13985C>T (p.Pro4662Leu)
c.13907C>T (p.Pro4636Leu)
c.11291C>T (p.Pro3764Leu)
c.14009C>T (p.Pro4670Leu)
c.14006C>T (p.Pro4669Leu)
c.13928C>T (p.Pro4643Leu)
c.13913C>T (p.Pro4638Leu)
c.7127C>T (p.Pro2376Leu)
c.7106C>T (p.Pro2369Leu)
n.14004C>T
5g.90789797C>ACA445415870ADGRV1c.13989C>A (p.Pro4663=)
c.2943C>A (p.Pro981=)
n.1256C>A
c.618C>A (p.Pro206=)
c.265+113588C>A (n.265+113588C>A)
c.399C>A (p.Pro133=)
c.972C>A (p.Pro324=)
n.14002C>A
c.13986C>A (p.Pro4662=)
c.13908C>A (p.Pro4636=)
c.11292C>A (p.Pro3764=)
c.14010C>A (p.Pro4670=)
c.14007C>A (p.Pro4669=)
c.13929C>A (p.Pro4643=)
c.13914C>A (p.Pro4638=)
c.7128C>A (p.Pro2376=)
c.7107C>A (p.Pro2369=)
n.14005C>A
 gnomAD v4
5g.90789797C=CA1562901693ADGRV1c.13989C= (p.Pro4663=)
c.2943C= (p.Pro981=)
n.1256C=
c.618C= (p.Pro206=)
c.265+113588C= (n.265+113588C=)
c.399C= (p.Pro133=)
c.972C= (p.Pro324=)
n.14002C=
c.13986C= (p.Pro4662=)
c.13908C= (p.Pro4636=)
c.11292C= (p.Pro3764=)
c.14010C= (p.Pro4670=)
c.14007C= (p.Pro4669=)
c.13929C= (p.Pro4643=)
c.13914C= (p.Pro4638=)
c.7128C= (p.Pro2376=)
c.7107C= (p.Pro2369=)
n.14005C=
5g.90789797C>GCA445415871ADGRV1c.13989C>G (p.Pro4663=)
c.2943C>G (p.Pro981=)
n.1256C>G
c.618C>G (p.Pro206=)
c.265+113588C>G (n.265+113588C>G)
c.399C>G (p.Pro133=)
c.972C>G (p.Pro324=)
n.14002C>G
c.13986C>G (p.Pro4662=)
c.13908C>G (p.Pro4636=)
c.11292C>G (p.Pro3764=)
c.14010C>G (p.Pro4670=)
c.14007C>G (p.Pro4669=)
c.13929C>G (p.Pro4643=)
c.13914C>G (p.Pro4638=)
c.7128C>G (p.Pro2376=)
c.7107C>G (p.Pro2369=)
n.14005C>G
 dbSNP gnomAD v3 gnomAD v4
5g.90789797C>TCA445415872ADGRV1c.13989C>T (p.Pro4663=)
c.2943C>T (p.Pro981=)
n.1256C>T
c.618C>T (p.Pro206=)
c.265+113588C>T (n.265+113588C>T)
c.399C>T (p.Pro133=)
c.972C>T (p.Pro324=)
n.14002C>T
c.13986C>T (p.Pro4662=)
c.13908C>T (p.Pro4636=)
c.11292C>T (p.Pro3764=)
c.14010C>T (p.Pro4670=)
c.14007C>T (p.Pro4669=)
c.13929C>T (p.Pro4643=)
c.13914C>T (p.Pro4638=)
c.7128C>T (p.Pro2376=)
c.7107C>T (p.Pro2369=)
n.14005C>T
 gnomAD v4
5g.90789798C>ACA360398966ADGRV1c.13990C>A (p.Leu4664Met)
c.2944C>A (p.Leu982Met)
n.1257C>A
c.619C>A (p.Leu207Met)
c.265+113589C>A (n.265+113589C>A)
c.400C>A (p.Leu134Met)
c.973C>A (p.Leu325Met)
n.14003C>A
c.13987C>A (p.Leu4663Met)
c.13909C>A (p.Leu4637Met)
c.11293C>A (p.Leu3765Met)
c.14011C>A (p.Leu4671Met)
c.14008C>A (p.Leu4670Met)
c.13930C>A (p.Leu4644Met)
c.13915C>A (p.Leu4639Met)
c.7129C>A (p.Leu2377Met)
c.7108C>A (p.Leu2370Met)
n.14006C>A
 gnomAD v4
5g.90789798C>GCA360398967ADGRV1c.13990C>G (p.Leu4664Val)
c.2944C>G (p.Leu982Val)
n.1257C>G
c.619C>G (p.Leu207Val)
c.265+113589C>G (n.265+113589C>G)
c.400C>G (p.Leu134Val)
c.973C>G (p.Leu325Val)
n.14003C>G
c.13987C>G (p.Leu4663Val)
c.13909C>G (p.Leu4637Val)
c.11293C>G (p.Leu3765Val)
c.14011C>G (p.Leu4671Val)
c.14008C>G (p.Leu4670Val)
c.13930C>G (p.Leu4644Val)
c.13915C>G (p.Leu4639Val)
c.7129C>G (p.Leu2377Val)
c.7108C>G (p.Leu2370Val)
n.14006C>G
 gnomAD v4
5g.90789798C>TCA445415873ADGRV1c.13990C>T (p.Leu4664=)
c.2944C>T (p.Leu982=)
n.1257C>T
c.619C>T (p.Leu207=)
c.265+113589C>T (n.265+113589C>T)
c.400C>T (p.Leu134=)
c.973C>T (p.Leu325=)
n.14003C>T
c.13987C>T (p.Leu4663=)
c.13909C>T (p.Leu4637=)
c.11293C>T (p.Leu3765=)
c.14011C>T (p.Leu4671=)
c.14008C>T (p.Leu4670=)
c.13930C>T (p.Leu4644=)
c.13915C>T (p.Leu4639=)
c.7129C>T (p.Leu2377=)
c.7108C>T (p.Leu2370=)
n.14006C>T
5g.90789799T>ACA360398969ADGRV1c.13991T>A (p.Leu4664Gln)
c.2945T>A (p.Leu982Gln)
n.1258T>A
c.620T>A (p.Leu207Gln)
c.265+113590T>A (n.265+113590T>A)
c.401T>A (p.Leu134Gln)
c.974T>A (p.Leu325Gln)
n.14004T>A
c.13988T>A (p.Leu4663Gln)
c.13910T>A (p.Leu4637Gln)
c.11294T>A (p.Leu3765Gln)
c.14012T>A (p.Leu4671Gln)
c.14009T>A (p.Leu4670Gln)
c.13931T>A (p.Leu4644Gln)
c.13916T>A (p.Leu4639Gln)
c.7130T>A (p.Leu2377Gln)
c.7109T>A (p.Leu2370Gln)
n.14007T>A
 gnomAD v4
5g.90789799T>CCA360398971ADGRV1c.13991T>C (p.Leu4664Pro)
c.2945T>C (p.Leu982Pro)
n.1258T>C
c.620T>C (p.Leu207Pro)
c.265+113590T>C (n.265+113590T>C)
c.401T>C (p.Leu134Pro)
c.974T>C (p.Leu325Pro)
n.14004T>C
c.13988T>C (p.Leu4663Pro)
c.13910T>C (p.Leu4637Pro)
c.11294T>C (p.Leu3765Pro)
c.14012T>C (p.Leu4671Pro)
c.14009T>C (p.Leu4670Pro)
c.13931T>C (p.Leu4644Pro)
c.13916T>C (p.Leu4639Pro)
c.7130T>C (p.Leu2377Pro)
c.7109T>C (p.Leu2370Pro)
n.14007T>C
5g.90789799T>GCA360398973ADGRV1c.13991T>G (p.Leu4664Arg)
c.2945T>G (p.Leu982Arg)
n.1258T>G
c.620T>G (p.Leu207Arg)
c.265+113590T>G (n.265+113590T>G)
c.401T>G (p.Leu134Arg)
c.974T>G (p.Leu325Arg)
n.14004T>G
c.13988T>G (p.Leu4663Arg)
c.13910T>G (p.Leu4637Arg)
c.11294T>G (p.Leu3765Arg)
c.14012T>G (p.Leu4671Arg)
c.14009T>G (p.Leu4670Arg)
c.13931T>G (p.Leu4644Arg)
c.13916T>G (p.Leu4639Arg)
c.7130T>G (p.Leu2377Arg)
c.7109T>G (p.Leu2370Arg)
n.14007T>G
5g.90789800delCA2674571736ADGRV1c.13992del (p.Leu4665SerfsTer22)
c.2946del (p.Leu983SerfsTer22)
n.1259del
c.621del (p.Leu208SerfsTer22)
c.265+113591del (n.265+113591del)
c.402del (p.Leu135SerfsTer22)
c.975del (p.Leu326SerfsTer22)
n.14005del
c.13989del (p.Leu4664SerfsTer22)
c.13911del (p.Leu4638SerfsTer22)
c.11295del (p.Leu3766SerfsTer22)
c.14013del (p.Leu4672SerfsTer22)
c.14010del (p.Leu4671SerfsTer22)
c.13932del (p.Leu4645SerfsTer22)
c.13917del (p.Leu4640SerfsTer22)
c.7131del (p.Leu2378SerfsTer22)
c.7110del (p.Leu2371SerfsTer22)
n.14008del
 gnomAD v4
5g.90789800G>ACA445415875ADGRV1c.13992G>A (p.Leu4664=)
c.2946G>A (p.Leu982=)
n.1259G>A
c.621G>A (p.Leu207=)
c.265+113591G>A (n.265+113591G>A)
c.402G>A (p.Leu134=)
c.975G>A (p.Leu325=)
n.14005G>A
c.13989G>A (p.Leu4663=)
c.13911G>A (p.Leu4637=)
c.11295G>A (p.Leu3765=)
c.14013G>A (p.Leu4671=)
c.14010G>A (p.Leu4670=)
c.13932G>A (p.Leu4644=)
c.13917G>A (p.Leu4639=)
c.7131G>A (p.Leu2377=)
c.7110G>A (p.Leu2370=)
n.14008G>A
 gnomAD v4
5g.90789800G>CCA445415876ADGRV1c.13992G>C (p.Leu4664=)
c.2946G>C (p.Leu982=)
n.1259G>C
c.621G>C (p.Leu207=)
c.265+113591G>C (n.265+113591G>C)
c.402G>C (p.Leu134=)
c.975G>C (p.Leu325=)
n.14005G>C
c.13989G>C (p.Leu4663=)
c.13911G>C (p.Leu4637=)
c.11295G>C (p.Leu3765=)
c.14013G>C (p.Leu4671=)
c.14010G>C (p.Leu4670=)
c.13932G>C (p.Leu4644=)
c.13917G>C (p.Leu4639=)
c.7131G>C (p.Leu2377=)
c.7110G>C (p.Leu2370=)
n.14008G>C
5g.90789800G>TCA445415877ADGRV1c.13992G>T (p.Leu4664=)
c.2946G>T (p.Leu982=)
n.1259G>T
c.621G>T (p.Leu207=)
c.265+113591G>T (n.265+113591G>T)
c.402G>T (p.Leu134=)
c.975G>T (p.Leu325=)
n.14005G>T
c.13989G>T (p.Leu4663=)
c.13911G>T (p.Leu4637=)
c.11295G>T (p.Leu3765=)
c.14013G>T (p.Leu4671=)
c.14010G>T (p.Leu4670=)
c.13932G>T (p.Leu4644=)
c.13917G>T (p.Leu4639=)
c.7131G>T (p.Leu2377=)
c.7110G>T (p.Leu2370=)
n.14008G>T
 gnomAD v4
5g.90789800dupCA2499218006ADGRV1c.13992dup (p.Leu4665AlafsTer24)
c.2946dup (p.Leu983AlafsTer24)
n.1259dup
c.621dup (p.Leu208AlafsTer24)
c.265+113591dup (n.265+113591dup)
c.402dup (p.Leu135AlafsTer24)
c.975dup (p.Leu326AlafsTer24)
n.14005dup
c.13989dup (p.Leu4664AlafsTer24)
c.13911dup (p.Leu4638AlafsTer24)
c.11295dup (p.Leu3766AlafsTer24)
c.14013dup (p.Leu4672AlafsTer24)
c.14010dup (p.Leu4671AlafsTer24)
c.13932dup (p.Leu4645AlafsTer24)
c.13917dup (p.Leu4640AlafsTer24)
c.7131dup (p.Leu2378AlafsTer24)
c.7110dup (p.Leu2371AlafsTer24)
n.14008dup
 ClinVar dbSNP
5g.90789801C>ACA3341650ADGRV1c.13993C>A (p.Leu4665Ile)
c.2947C>A (p.Leu983Ile)
n.1260C>A
c.622C>A (p.Leu208Ile)
c.265+113592C>A (n.265+113592C>A)
c.403C>A (p.Leu135Ile)
c.976C>A (p.Leu326Ile)
n.14006C>A
c.13990C>A (p.Leu4664Ile)
c.13912C>A (p.Leu4638Ile)
c.11296C>A (p.Leu3766Ile)
c.14014C>A (p.Leu4672Ile)
c.14011C>A (p.Leu4671Ile)
c.13933C>A (p.Leu4645Ile)
c.13918C>A (p.Leu4640Ile)
c.7132C>A (p.Leu2378Ile)
c.7111C>A (p.Leu2371Ile)
n.14009C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90789801C=CA1562901694ADGRV1c.13993C= (p.Leu4665=)
c.2947C= (p.Leu983=)
n.1260C=
c.622C= (p.Leu208=)
c.265+113592C= (n.265+113592C=)
c.403C= (p.Leu135=)
c.976C= (p.Leu326=)
n.14006C=
c.13990C= (p.Leu4664=)
c.13912C= (p.Leu4638=)
c.11296C= (p.Leu3766=)
c.14014C= (p.Leu4672=)
c.14011C= (p.Leu4671=)
c.13933C= (p.Leu4645=)
c.13918C= (p.Leu4640=)
c.7132C= (p.Leu2378=)
c.7111C= (p.Leu2371=)
n.14009C=
5g.90789801C>GCA360398975ADGRV1c.13993C>G (p.Leu4665Val)
c.2947C>G (p.Leu983Val)
n.1260C>G
c.622C>G (p.Leu208Val)
c.265+113592C>G (n.265+113592C>G)
c.403C>G (p.Leu135Val)
c.976C>G (p.Leu326Val)
n.14006C>G
c.13990C>G (p.Leu4664Val)
c.13912C>G (p.Leu4638Val)
c.11296C>G (p.Leu3766Val)
c.14014C>G (p.Leu4672Val)
c.14011C>G (p.Leu4671Val)
c.13933C>G (p.Leu4645Val)
c.13918C>G (p.Leu4640Val)
c.7132C>G (p.Leu2378Val)
c.7111C>G (p.Leu2371Val)
n.14009C>G
5g.90789801C>TCA360398977ADGRV1c.13993C>T (p.Leu4665Phe)
c.2947C>T (p.Leu983Phe)
n.1260C>T
c.622C>T (p.Leu208Phe)
c.265+113592C>T (n.265+113592C>T)
c.403C>T (p.Leu135Phe)
c.976C>T (p.Leu326Phe)
n.14006C>T
c.13990C>T (p.Leu4664Phe)
c.13912C>T (p.Leu4638Phe)
c.11296C>T (p.Leu3766Phe)
c.14014C>T (p.Leu4672Phe)
c.14011C>T (p.Leu4671Phe)
c.13933C>T (p.Leu4645Phe)
c.13918C>T (p.Leu4640Phe)
c.7132C>T (p.Leu2378Phe)
c.7111C>T (p.Leu2371Phe)
n.14009C>T
 gnomAD v4
5g.90789802T>ACA360398980ADGRV1c.13994T>A (p.Leu4665His)
c.2948T>A (p.Leu983His)
n.1261T>A
c.623T>A (p.Leu208His)
c.265+113593T>A (n.265+113593T>A)
c.404T>A (p.Leu135His)
c.977T>A (p.Leu326His)
n.14007T>A
c.13991T>A (p.Leu4664His)
c.13913T>A (p.Leu4638His)
c.11297T>A (p.Leu3766His)
c.14015T>A (p.Leu4672His)
c.14012T>A (p.Leu4671His)
c.13934T>A (p.Leu4645His)
c.13919T>A (p.Leu4640His)
c.7133T>A (p.Leu2378His)
c.7112T>A (p.Leu2371His)
n.14010T>A
5g.90789802T>CCA360398981ADGRV1c.13994T>C (p.Leu4665Pro)
c.2948T>C (p.Leu983Pro)
n.1261T>C
c.623T>C (p.Leu208Pro)
c.265+113593T>C (n.265+113593T>C)
c.404T>C (p.Leu135Pro)
c.977T>C (p.Leu326Pro)
n.14007T>C
c.13991T>C (p.Leu4664Pro)
c.13913T>C (p.Leu4638Pro)
c.11297T>C (p.Leu3766Pro)
c.14015T>C (p.Leu4672Pro)
c.14012T>C (p.Leu4671Pro)
c.13934T>C (p.Leu4645Pro)
c.13919T>C (p.Leu4640Pro)
c.7133T>C (p.Leu2378Pro)
c.7112T>C (p.Leu2371Pro)
n.14010T>C
 gnomAD v4
5g.90789802T>GCA360398983ADGRV1c.13994T>G (p.Leu4665Arg)
c.2948T>G (p.Leu983Arg)
n.1261T>G
c.623T>G (p.Leu208Arg)
c.265+113593T>G (n.265+113593T>G)
c.404T>G (p.Leu135Arg)
c.977T>G (p.Leu326Arg)
n.14007T>G
c.13991T>G (p.Leu4664Arg)
c.13913T>G (p.Leu4638Arg)
c.11297T>G (p.Leu3766Arg)
c.14015T>G (p.Leu4672Arg)
c.14012T>G (p.Leu4671Arg)
c.13934T>G (p.Leu4645Arg)
c.13919T>G (p.Leu4640Arg)
c.7133T>G (p.Leu2378Arg)
c.7112T>G (p.Leu2371Arg)
n.14010T>G
 COSMIC
5g.90789803C>ACA445415882ADGRV1c.13995C>A (p.Leu4665=)
c.2949C>A (p.Leu983=)
n.1262C>A
c.624C>A (p.Leu208=)
c.265+113594C>A (n.265+113594C>A)
c.405C>A (p.Leu135=)
c.978C>A (p.Leu326=)
n.14008C>A
c.13992C>A (p.Leu4664=)
c.13914C>A (p.Leu4638=)
c.11298C>A (p.Leu3766=)
c.14016C>A (p.Leu4672=)
c.14013C>A (p.Leu4671=)
c.13935C>A (p.Leu4645=)
c.13920C>A (p.Leu4640=)
c.7134C>A (p.Leu2378=)
c.7113C>A (p.Leu2371=)
n.14011C>A
 gnomAD v4
5g.90789803C=CA1562901695ADGRV1c.13995C= (p.Leu4665=)
c.2949C= (p.Leu983=)
n.1262C=
c.624C= (p.Leu208=)
c.265+113594C= (n.265+113594C=)
c.405C= (p.Leu135=)
c.978C= (p.Leu326=)
n.14008C=
c.13992C= (p.Leu4664=)
c.13914C= (p.Leu4638=)
c.11298C= (p.Leu3766=)
c.14016C= (p.Leu4672=)
c.14013C= (p.Leu4671=)
c.13935C= (p.Leu4645=)
c.13920C= (p.Leu4640=)
c.7134C= (p.Leu2378=)
c.7113C= (p.Leu2371=)
n.14011C=
5g.90789803C>GCA445415884ADGRV1c.13995C>G (p.Leu4665=)
c.2949C>G (p.Leu983=)
n.1262C>G
c.624C>G (p.Leu208=)
c.265+113594C>G (n.265+113594C>G)
c.405C>G (p.Leu135=)
c.978C>G (p.Leu326=)
n.14008C>G
c.13992C>G (p.Leu4664=)
c.13914C>G (p.Leu4638=)
c.11298C>G (p.Leu3766=)
c.14016C>G (p.Leu4672=)
c.14013C>G (p.Leu4671=)
c.13935C>G (p.Leu4645=)
c.13920C>G (p.Leu4640=)
c.7134C>G (p.Leu2378=)
c.7113C>G (p.Leu2371=)
n.14011C>G
5g.90789803C>TCA445415883ADGRV1c.13995C>T (p.Leu4665=)
c.2949C>T (p.Leu983=)
n.1262C>T
c.624C>T (p.Leu208=)
c.265+113594C>T (n.265+113594C>T)
c.405C>T (p.Leu135=)
c.978C>T (p.Leu326=)
n.14008C>T
c.13992C>T (p.Leu4664=)
c.13914C>T (p.Leu4638=)
c.11298C>T (p.Leu3766=)
c.14016C>T (p.Leu4672=)
c.14013C>T (p.Leu4671=)
c.13935C>T (p.Leu4645=)
c.13920C>T (p.Leu4640=)
c.7134C>T (p.Leu2378=)
c.7113C>T (p.Leu2371=)
n.14011C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90789804A=CA1562901696ADGRV1c.13996A= (p.Ile4666=)
c.2950A= (p.Ile984=)
n.1263A=
c.625A= (p.Ile209=)
c.265+113595A= (n.265+113595A=)
c.406A= (p.Ile136=)
c.979A= (p.Ile327=)
n.14009A=
c.13993A= (p.Ile4665=)
c.13915A= (p.Ile4639=)
c.11299A= (p.Ile3767=)
c.14017A= (p.Ile4673=)
c.14014A= (p.Ile4672=)
c.13936A= (p.Ile4646=)
c.13921A= (p.Ile4641=)
c.7135A= (p.Ile2379=)
c.7114A= (p.Ile2372=)
n.14012A=
5g.90789804A>CCA360398987ADGRV1c.13996A>C (p.Ile4666Leu)
c.2950A>C (p.Ile984Leu)
n.1263A>C
c.625A>C (p.Ile209Leu)
c.265+113595A>C (n.265+113595A>C)
c.406A>C (p.Ile136Leu)
c.979A>C (p.Ile327Leu)
n.14009A>C
c.13993A>C (p.Ile4665Leu)
c.13915A>C (p.Ile4639Leu)
c.11299A>C (p.Ile3767Leu)
c.14017A>C (p.Ile4673Leu)
c.14014A>C (p.Ile4672Leu)
c.13936A>C (p.Ile4646Leu)
c.13921A>C (p.Ile4641Leu)
c.7135A>C (p.Ile2379Leu)
c.7114A>C (p.Ile2372Leu)
n.14012A>C
5g.90789804A>GCA3341651ADGRV1c.13996A>G (p.Ile4666Val)
c.2950A>G (p.Ile984Val)
n.1263A>G
c.625A>G (p.Ile209Val)
c.265+113595A>G (n.265+113595A>G)
c.406A>G (p.Ile136Val)
c.979A>G (p.Ile327Val)
n.14009A>G
c.13993A>G (p.Ile4665Val)
c.13915A>G (p.Ile4639Val)
c.11299A>G (p.Ile3767Val)
c.14017A>G (p.Ile4673Val)
c.14014A>G (p.Ile4672Val)
c.13936A>G (p.Ile4646Val)
c.13921A>G (p.Ile4641Val)
c.7135A>G (p.Ile2379Val)
c.7114A>G (p.Ile2372Val)
n.14012A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90789804A>TCA360398986ADGRV1c.13996A>T (p.Ile4666Phe)
c.2950A>T (p.Ile984Phe)
n.1263A>T
c.625A>T (p.Ile209Phe)
c.265+113595A>T (n.265+113595A>T)
c.406A>T (p.Ile136Phe)
c.979A>T (p.Ile327Phe)
n.14009A>T
c.13993A>T (p.Ile4665Phe)
c.13915A>T (p.Ile4639Phe)
c.11299A>T (p.Ile3767Phe)
c.14017A>T (p.Ile4673Phe)
c.14014A>T (p.Ile4672Phe)
c.13936A>T (p.Ile4646Phe)
c.13921A>T (p.Ile4641Phe)
c.7135A>T (p.Ile2379Phe)
c.7114A>T (p.Ile2372Phe)
n.14012A>T
5g.90789805T>ACA360398992ADGRV1c.13997T>A (p.Ile4666Asn)
c.2951T>A (p.Ile984Asn)
n.1264T>A
c.626T>A (p.Ile209Asn)
c.265+113596T>A (n.265+113596T>A)
c.407T>A (p.Ile136Asn)
c.980T>A (p.Ile327Asn)
n.14010T>A
c.13994T>A (p.Ile4665Asn)
c.13916T>A (p.Ile4639Asn)
c.11300T>A (p.Ile3767Asn)
c.14018T>A (p.Ile4673Asn)
c.14015T>A (p.Ile4672Asn)
c.13937T>A (p.Ile4646Asn)
c.13922T>A (p.Ile4641Asn)
c.7136T>A (p.Ile2379Asn)
c.7115T>A (p.Ile2372Asn)
n.14013T>A
 gnomAD v4
5g.90789805T>CCA360398991ADGRV1c.13997T>C (p.Ile4666Thr)
c.2951T>C (p.Ile984Thr)
n.1264T>C
c.626T>C (p.Ile209Thr)
c.265+113596T>C (n.265+113596T>C)
c.407T>C (p.Ile136Thr)
c.980T>C (p.Ile327Thr)
n.14010T>C
c.13994T>C (p.Ile4665Thr)
c.13916T>C (p.Ile4639Thr)
c.11300T>C (p.Ile3767Thr)
c.14018T>C (p.Ile4673Thr)
c.14015T>C (p.Ile4672Thr)
c.13937T>C (p.Ile4646Thr)
c.13922T>C (p.Ile4641Thr)
c.7136T>C (p.Ile2379Thr)
c.7115T>C (p.Ile2372Thr)
n.14013T>C
 gnomAD v4
5g.90789805T>GCA360398994ADGRV1c.13997T>G (p.Ile4666Ser)
c.2951T>G (p.Ile984Ser)
n.1264T>G
c.626T>G (p.Ile209Ser)
c.265+113596T>G (n.265+113596T>G)
c.407T>G (p.Ile136Ser)
c.980T>G (p.Ile327Ser)
n.14010T>G
c.13994T>G (p.Ile4665Ser)
c.13916T>G (p.Ile4639Ser)
c.11300T>G (p.Ile3767Ser)
c.14018T>G (p.Ile4673Ser)
c.14015T>G (p.Ile4672Ser)
c.13937T>G (p.Ile4646Ser)
c.13922T>G (p.Ile4641Ser)
c.7136T>G (p.Ile2379Ser)
c.7115T>G (p.Ile2372Ser)
n.14013T>G
5g.90789806delCA2674571737ADGRV1c.13998del (p.Thr4667ProfsTer20)
c.2952del (p.Thr985ProfsTer20)
n.1265del
c.627del (p.Thr210ProfsTer20)
c.265+113597del (n.265+113597del)
c.408del (p.Thr137ProfsTer20)
c.981del (p.Thr328ProfsTer20)
n.14011del
c.13995del (p.Thr4666ProfsTer20)
c.13917del (p.Thr4640ProfsTer20)
c.11301del (p.Thr3768ProfsTer20)
c.14019del (p.Thr4674ProfsTer20)
c.14016del (p.Thr4673ProfsTer20)
c.13938del (p.Thr4647ProfsTer20)
c.13923del (p.Thr4642ProfsTer20)
c.7137del (p.Thr2380ProfsTer20)
c.7116del (p.Thr2373ProfsTer20)
n.14014del
 gnomAD v4
5g.90789806T>ACA445415889ADGRV1c.13998T>A (p.Ile4666=)
c.2952T>A (p.Ile984=)
n.1265T>A
c.627T>A (p.Ile209=)
c.265+113597T>A (n.265+113597T>A)
c.408T>A (p.Ile136=)
c.981T>A (p.Ile327=)
n.14011T>A
c.13995T>A (p.Ile4665=)
c.13917T>A (p.Ile4639=)
c.11301T>A (p.Ile3767=)
c.14019T>A (p.Ile4673=)
c.14016T>A (p.Ile4672=)
c.13938T>A (p.Ile4646=)
c.13923T>A (p.Ile4641=)
c.7137T>A (p.Ile2379=)
c.7116T>A (p.Ile2372=)
n.14014T>A
5g.90789806T>CCA445415891ADGRV1c.13998T>C (p.Ile4666=)
c.2952T>C (p.Ile984=)
n.1265T>C
c.627T>C (p.Ile209=)
c.265+113597T>C (n.265+113597T>C)
c.408T>C (p.Ile136=)
c.981T>C (p.Ile327=)
n.14011T>C
c.13995T>C (p.Ile4665=)
c.13917T>C (p.Ile4639=)
c.11301T>C (p.Ile3767=)
c.14019T>C (p.Ile4673=)
c.14016T>C (p.Ile4672=)
c.13938T>C (p.Ile4646=)
c.13923T>C (p.Ile4641=)
c.7137T>C (p.Ile2379=)
c.7116T>C (p.Ile2372=)
n.14014T>C
 gnomAD v4
5g.90789806T>GCA360398996ADGRV1c.13998T>G (p.Ile4666Met)
c.2952T>G (p.Ile984Met)
n.1265T>G
c.627T>G (p.Ile209Met)
c.265+113597T>G (n.265+113597T>G)
c.408T>G (p.Ile136Met)
c.981T>G (p.Ile327Met)
n.14011T>G
c.13995T>G (p.Ile4665Met)
c.13917T>G (p.Ile4639Met)
c.11301T>G (p.Ile3767Met)
c.14019T>G (p.Ile4673Met)
c.14016T>G (p.Ile4672Met)
c.13938T>G (p.Ile4646Met)
c.13923T>G (p.Ile4641Met)
c.7137T>G (p.Ile2379Met)
c.7116T>G (p.Ile2372Met)
n.14014T>G
5g.90789807A=CA1562901697ADGRV1c.13999A= (p.Thr4667=)
c.2953A= (p.Thr985=)
n.1266A=
c.628A= (p.Thr210=)
c.265+113598A= (n.265+113598A=)
c.409A= (p.Thr137=)
c.982A= (p.Thr328=)
n.14012A=
c.13996A= (p.Thr4666=)
c.13918A= (p.Thr4640=)
c.11302A= (p.Thr3768=)
c.14020A= (p.Thr4674=)
c.14017A= (p.Thr4673=)
c.13939A= (p.Thr4647=)
c.13924A= (p.Thr4642=)
c.7138A= (p.Thr2380=)
c.7117A= (p.Thr2373=)
n.14015A=
5g.90789807A>CCA360399001ADGRV1c.13999A>C (p.Thr4667Pro)
c.2953A>C (p.Thr985Pro)
n.1266A>C
c.628A>C (p.Thr210Pro)
c.265+113598A>C (n.265+113598A>C)
c.409A>C (p.Thr137Pro)
c.982A>C (p.Thr328Pro)
n.14012A>C
c.13996A>C (p.Thr4666Pro)
c.13918A>C (p.Thr4640Pro)
c.11302A>C (p.Thr3768Pro)
c.14020A>C (p.Thr4674Pro)
c.14017A>C (p.Thr4673Pro)
c.13939A>C (p.Thr4647Pro)
c.13924A>C (p.Thr4642Pro)
c.7138A>C (p.Thr2380Pro)
c.7117A>C (p.Thr2373Pro)
n.14015A>C
5g.90789807A>GCA360398997ADGRV1c.13999A>G (p.Thr4667Ala)
c.2953A>G (p.Thr985Ala)
n.1266A>G
c.628A>G (p.Thr210Ala)
c.265+113598A>G (n.265+113598A>G)
c.409A>G (p.Thr137Ala)
c.982A>G (p.Thr328Ala)
n.14012A>G
c.13996A>G (p.Thr4666Ala)
c.13918A>G (p.Thr4640Ala)
c.11302A>G (p.Thr3768Ala)
c.14020A>G (p.Thr4674Ala)
c.14017A>G (p.Thr4673Ala)
c.13939A>G (p.Thr4647Ala)
c.13924A>G (p.Thr4642Ala)
c.7138A>G (p.Thr2380Ala)
c.7117A>G (p.Thr2373Ala)
n.14015A>G
 dbSNP
5g.90789807A>TCA360399000ADGRV1c.13999A>T (p.Thr4667Ser)
c.2953A>T (p.Thr985Ser)
n.1266A>T
c.628A>T (p.Thr210Ser)
c.265+113598A>T (n.265+113598A>T)
c.409A>T (p.Thr137Ser)
c.982A>T (p.Thr328Ser)
n.14012A>T
c.13996A>T (p.Thr4666Ser)
c.13918A>T (p.Thr4640Ser)
c.11302A>T (p.Thr3768Ser)
c.14020A>T (p.Thr4674Ser)
c.14017A>T (p.Thr4673Ser)
c.13939A>T (p.Thr4647Ser)
c.13924A>T (p.Thr4642Ser)
c.7138A>T (p.Thr2380Ser)
c.7117A>T (p.Thr2373Ser)
n.14015A>T
5g.90789808C>ACA360399003ADGRV1c.14000C>A (p.Thr4667Asn)
c.2954C>A (p.Thr985Asn)
n.1267C>A
c.629C>A (p.Thr210Asn)
c.265+113599C>A (n.265+113599C>A)
c.410C>A (p.Thr137Asn)
c.983C>A (p.Thr328Asn)
n.14013C>A
c.13997C>A (p.Thr4666Asn)
c.13919C>A (p.Thr4640Asn)
c.11303C>A (p.Thr3768Asn)
c.14021C>A (p.Thr4674Asn)
c.14018C>A (p.Thr4673Asn)
c.13940C>A (p.Thr4647Asn)
c.13925C>A (p.Thr4642Asn)
c.7139C>A (p.Thr2380Asn)
c.7118C>A (p.Thr2373Asn)
n.14016C>A
 gnomAD v4
5g.90789808C>GCA360399005ADGRV1c.14000C>G (p.Thr4667Ser)
c.2954C>G (p.Thr985Ser)
n.1267C>G
c.629C>G (p.Thr210Ser)
c.265+113599C>G (n.265+113599C>G)
c.410C>G (p.Thr137Ser)
c.983C>G (p.Thr328Ser)
n.14013C>G
c.13997C>G (p.Thr4666Ser)
c.13919C>G (p.Thr4640Ser)
c.11303C>G (p.Thr3768Ser)
c.14021C>G (p.Thr4674Ser)
c.14018C>G (p.Thr4673Ser)
c.13940C>G (p.Thr4647Ser)
c.13925C>G (p.Thr4642Ser)
c.7139C>G (p.Thr2380Ser)
c.7118C>G (p.Thr2373Ser)
n.14016C>G
5g.90789808C>TCA360399007ADGRV1c.14000C>T (p.Thr4667Ile)
c.2954C>T (p.Thr985Ile)
n.1267C>T
c.629C>T (p.Thr210Ile)
c.265+113599C>T (n.265+113599C>T)
c.410C>T (p.Thr137Ile)
c.983C>T (p.Thr328Ile)
n.14013C>T
c.13997C>T (p.Thr4666Ile)
c.13919C>T (p.Thr4640Ile)
c.11303C>T (p.Thr3768Ile)
c.14021C>T (p.Thr4674Ile)
c.14018C>T (p.Thr4673Ile)
c.13940C>T (p.Thr4647Ile)
c.13925C>T (p.Thr4642Ile)
c.7139C>T (p.Thr2380Ile)
c.7118C>T (p.Thr2373Ile)
n.14016C>T
 gnomAD v4
5g.90789809C>ACA3341652ADGRV1c.14001C>A (p.Thr4667=)
c.2955C>A (p.Thr985=)
n.1268C>A
c.630C>A (p.Thr210=)
c.265+113600C>A (n.265+113600C>A)
c.411C>A (p.Thr137=)
c.984C>A (p.Thr328=)
n.14014C>A
c.13998C>A (p.Thr4666=)
c.13920C>A (p.Thr4640=)
c.11304C>A (p.Thr3768=)
c.14022C>A (p.Thr4674=)
c.14019C>A (p.Thr4673=)
c.13941C>A (p.Thr4647=)
c.13926C>A (p.Thr4642=)
c.7140C>A (p.Thr2380=)
c.7119C>A (p.Thr2373=)
n.14017C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90789809C=CA1562901698ADGRV1c.14001C= (p.Thr4667=)
c.2955C= (p.Thr985=)
n.1268C=
c.630C= (p.Thr210=)
c.265+113600C= (n.265+113600C=)
c.411C= (p.Thr137=)
c.984C= (p.Thr328=)
n.14014C=
c.13998C= (p.Thr4666=)
c.13920C= (p.Thr4640=)
c.11304C= (p.Thr3768=)
c.14022C= (p.Thr4674=)
c.14019C= (p.Thr4673=)
c.13941C= (p.Thr4647=)
c.13926C= (p.Thr4642=)
c.7140C= (p.Thr2380=)
c.7119C= (p.Thr2373=)
n.14017C=
5g.90789809C>GCA445415897ADGRV1c.14001C>G (p.Thr4667=)
c.2955C>G (p.Thr985=)
n.1268C>G
c.630C>G (p.Thr210=)
c.265+113600C>G (n.265+113600C>G)
c.411C>G (p.Thr137=)
c.984C>G (p.Thr328=)
n.14014C>G
c.13998C>G (p.Thr4666=)
c.13920C>G (p.Thr4640=)
c.11304C>G (p.Thr3768=)
c.14022C>G (p.Thr4674=)
c.14019C>G (p.Thr4673=)
c.13941C>G (p.Thr4647=)
c.13926C>G (p.Thr4642=)
c.7140C>G (p.Thr2380=)
c.7119C>G (p.Thr2373=)
n.14017C>G
5g.90789809C>TCA445415898ADGRV1c.14001C>T (p.Thr4667=)
c.2955C>T (p.Thr985=)
n.1268C>T
c.630C>T (p.Thr210=)
c.265+113600C>T (n.265+113600C>T)
c.411C>T (p.Thr137=)
c.984C>T (p.Thr328=)
n.14014C>T
c.13998C>T (p.Thr4666=)
c.13920C>T (p.Thr4640=)
c.11304C>T (p.Thr3768=)
c.14022C>T (p.Thr4674=)
c.14019C>T (p.Thr4673=)
c.13941C>T (p.Thr4647=)
c.13926C>T (p.Thr4642=)
c.7140C>T (p.Thr2380=)
c.7119C>T (p.Thr2373=)
n.14017C>T
 gnomAD v4
5g.90789810T>ACA360399013ADGRV1c.14002T>A (p.Phe4668Ile)
c.2956T>A (p.Phe986Ile)
n.1269T>A
c.631T>A (p.Phe211Ile)
c.265+113601T>A (n.265+113601T>A)
c.412T>A (p.Phe138Ile)
c.985T>A (p.Phe329Ile)
n.14015T>A
c.13999T>A (p.Phe4667Ile)
c.13921T>A (p.Phe4641Ile)
c.11305T>A (p.Phe3769Ile)
c.14023T>A (p.Phe4675Ile)
c.14020T>A (p.Phe4674Ile)
c.13942T>A (p.Phe4648Ile)
c.13927T>A (p.Phe4643Ile)
c.7141T>A (p.Phe2381Ile)
c.7120T>A (p.Phe2374Ile)
n.14018T>A
5g.90789810T>CCA360399010ADGRV1c.14002T>C (p.Phe4668Leu)
c.2956T>C (p.Phe986Leu)
n.1269T>C
c.631T>C (p.Phe211Leu)
c.265+113601T>C (n.265+113601T>C)
c.412T>C (p.Phe138Leu)
c.985T>C (p.Phe329Leu)
n.14015T>C
c.13999T>C (p.Phe4667Leu)
c.13921T>C (p.Phe4641Leu)
c.11305T>C (p.Phe3769Leu)
c.14023T>C (p.Phe4675Leu)
c.14020T>C (p.Phe4674Leu)
c.13942T>C (p.Phe4648Leu)
c.13927T>C (p.Phe4643Leu)
c.7141T>C (p.Phe2381Leu)
c.7120T>C (p.Phe2374Leu)
n.14018T>C
 gnomAD v4
5g.90789810T>GCA360399012ADGRV1c.14002T>G (p.Phe4668Val)
c.2956T>G (p.Phe986Val)
n.1269T>G
c.631T>G (p.Phe211Val)
c.265+113601T>G (n.265+113601T>G)
c.412T>G (p.Phe138Val)
c.985T>G (p.Phe329Val)
n.14015T>G
c.13999T>G (p.Phe4667Val)
c.13921T>G (p.Phe4641Val)
c.11305T>G (p.Phe3769Val)
c.14023T>G (p.Phe4675Val)
c.14020T>G (p.Phe4674Val)
c.13942T>G (p.Phe4648Val)
c.13927T>G (p.Phe4643Val)
c.7141T>G (p.Phe2381Val)
c.7120T>G (p.Phe2374Val)
n.14018T>G
5g.90789811T>ACA360399015ADGRV1c.14003T>A (p.Phe4668Tyr)
c.2957T>A (p.Phe986Tyr)
n.1270T>A
c.632T>A (p.Phe211Tyr)
c.265+113602T>A (n.265+113602T>A)
c.413T>A (p.Phe138Tyr)
c.986T>A (p.Phe329Tyr)
n.14016T>A
c.14000T>A (p.Phe4667Tyr)
c.13922T>A (p.Phe4641Tyr)
c.11306T>A (p.Phe3769Tyr)
c.14024T>A (p.Phe4675Tyr)
c.14021T>A (p.Phe4674Tyr)
c.13943T>A (p.Phe4648Tyr)
c.13928T>A (p.Phe4643Tyr)
c.7142T>A (p.Phe2381Tyr)
c.7121T>A (p.Phe2374Tyr)
n.14019T>A
5g.90789811T>CCA360399016ADGRV1c.14003T>C (p.Phe4668Ser)
c.2957T>C (p.Phe986Ser)
n.1270T>C
c.632T>C (p.Phe211Ser)
c.265+113602T>C (n.265+113602T>C)
c.413T>C (p.Phe138Ser)
c.986T>C (p.Phe329Ser)
n.14016T>C
c.14000T>C (p.Phe4667Ser)
c.13922T>C (p.Phe4641Ser)
c.11306T>C (p.Phe3769Ser)
c.14024T>C (p.Phe4675Ser)
c.14021T>C (p.Phe4674Ser)
c.13943T>C (p.Phe4648Ser)
c.13928T>C (p.Phe4643Ser)
c.7142T>C (p.Phe2381Ser)
c.7121T>C (p.Phe2374Ser)
n.14019T>C
 gnomAD v4
5g.90789811T>GCA360399018ADGRV1c.14003T>G (p.Phe4668Cys)
c.2957T>G (p.Phe986Cys)
n.1270T>G
c.632T>G (p.Phe211Cys)
c.265+113602T>G (n.265+113602T>G)
c.413T>G (p.Phe138Cys)
c.986T>G (p.Phe329Cys)
n.14016T>G
c.14000T>G (p.Phe4667Cys)
c.13922T>G (p.Phe4641Cys)
c.11306T>G (p.Phe3769Cys)
c.14024T>G (p.Phe4675Cys)
c.14021T>G (p.Phe4674Cys)
c.13943T>G (p.Phe4648Cys)
c.13928T>G (p.Phe4643Cys)
c.7142T>G (p.Phe2381Cys)
c.7121T>G (p.Phe2374Cys)
n.14019T>G
5g.90789812C>ACA360399020ADGRV1c.14004C>A (p.Phe4668Leu)
c.2958C>A (p.Phe986Leu)
n.1271C>A
c.633C>A (p.Phe211Leu)
c.265+113603C>A (n.265+113603C>A)
c.414C>A (p.Phe138Leu)
c.987C>A (p.Phe329Leu)
n.14017C>A
c.14001C>A (p.Phe4667Leu)
c.13923C>A (p.Phe4641Leu)
c.11307C>A (p.Phe3769Leu)
c.14025C>A (p.Phe4675Leu)
c.14022C>A (p.Phe4674Leu)
c.13944C>A (p.Phe4648Leu)
c.13929C>A (p.Phe4643Leu)
c.7143C>A (p.Phe2381Leu)
c.7122C>A (p.Phe2374Leu)
n.14020C>A
 gnomAD v4 COSMIC
5g.90789812C>GCA360399022ADGRV1c.14004C>G (p.Phe4668Leu)
c.2958C>G (p.Phe986Leu)
n.1271C>G
c.633C>G (p.Phe211Leu)
c.265+113603C>G (n.265+113603C>G)
c.414C>G (p.Phe138Leu)
c.987C>G (p.Phe329Leu)
n.14017C>G
c.14001C>G (p.Phe4667Leu)
c.13923C>G (p.Phe4641Leu)
c.11307C>G (p.Phe3769Leu)
c.14025C>G (p.Phe4675Leu)
c.14022C>G (p.Phe4674Leu)
c.13944C>G (p.Phe4648Leu)
c.13929C>G (p.Phe4643Leu)
c.7143C>G (p.Phe2381Leu)
c.7122C>G (p.Phe2374Leu)
n.14020C>G
 gnomAD v4
5g.90789812C>TCA445415903ADGRV1c.14004C>T (p.Phe4668=)
c.2958C>T (p.Phe986=)
n.1271C>T
c.633C>T (p.Phe211=)
c.265+113603C>T (n.265+113603C>T)
c.414C>T (p.Phe138=)
c.987C>T (p.Phe329=)
n.14017C>T
c.14001C>T (p.Phe4667=)
c.13923C>T (p.Phe4641=)
c.11307C>T (p.Phe3769=)
c.14025C>T (p.Phe4675=)
c.14022C>T (p.Phe4674=)
c.13944C>T (p.Phe4648=)
c.13929C>T (p.Phe4643=)
c.7143C>T (p.Phe2381=)
c.7122C>T (p.Phe2374=)
n.14020C>T
 gnomAD v4
5g.90789813T>ACA360399027ADGRV1c.14005T>A (p.Phe4669Ile)
c.2959T>A (p.Phe987Ile)
n.1272T>A
c.634T>A (p.Phe212Ile)
c.265+113604T>A (n.265+113604T>A)
c.415T>A (p.Phe139Ile)
c.988T>A (p.Phe330Ile)
n.14018T>A
c.14002T>A (p.Phe4668Ile)
c.13924T>A (p.Phe4642Ile)
c.11308T>A (p.Phe3770Ile)
c.14026T>A (p.Phe4676Ile)
c.14023T>A (p.Phe4675Ile)
c.13945T>A (p.Phe4649Ile)
c.13930T>A (p.Phe4644Ile)
c.7144T>A (p.Phe2382Ile)
c.7123T>A (p.Phe2375Ile)
n.14021T>A
5g.90789813T>CCA246998ADGRV1c.14005T>C (p.Phe4669Leu)
c.2959T>C (p.Phe987Leu)
n.1272T>C
c.634T>C (p.Phe212Leu)
c.265+113604T>C (n.265+113604T>C)
c.415T>C (p.Phe139Leu)
c.988T>C (p.Phe330Leu)
n.14018T>C
c.14002T>C (p.Phe4668Leu)
c.13924T>C (p.Phe4642Leu)
c.11308T>C (p.Phe3770Leu)
c.14026T>C (p.Phe4676Leu)
c.14023T>C (p.Phe4675Leu)
c.13945T>C (p.Phe4649Leu)
c.13930T>C (p.Phe4644Leu)
c.7144T>C (p.Phe2382Leu)
c.7123T>C (p.Phe2375Leu)
n.14021T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90789813T>GCA360399025ADGRV1c.14005T>G (p.Phe4669Val)
c.2959T>G (p.Phe987Val)
n.1272T>G
c.634T>G (p.Phe212Val)
c.265+113604T>G (n.265+113604T>G)
c.415T>G (p.Phe139Val)
c.988T>G (p.Phe330Val)
n.14018T>G
c.14002T>G (p.Phe4668Val)
c.13924T>G (p.Phe4642Val)
c.11308T>G (p.Phe3770Val)
c.14026T>G (p.Phe4676Val)
c.14023T>G (p.Phe4675Val)
c.13945T>G (p.Phe4649Val)
c.13930T>G (p.Phe4644Val)
c.7144T>G (p.Phe2382Val)
c.7123T>G (p.Phe2375Val)
n.14021T>G
5g.90789813T=CA1562901699ADGRV1c.14005T= (p.Phe4669=)
c.2959T= (p.Phe987=)
n.1272T=
c.634T= (p.Phe212=)
c.265+113604T= (n.265+113604T=)
c.415T= (p.Phe139=)
c.988T= (p.Phe330=)
n.14018T=
c.14002T= (p.Phe4668=)
c.13924T= (p.Phe4642=)
c.11308T= (p.Phe3770=)
c.14026T= (p.Phe4676=)
c.14023T= (p.Phe4675=)
c.13945T= (p.Phe4649=)
c.13930T= (p.Phe4644=)
c.7144T= (p.Phe2382=)
c.7123T= (p.Phe2375=)
n.14021T=
5g.90789814T>ACA360399029ADGRV1c.14006T>A (p.Phe4669Tyr)
c.2960T>A (p.Phe987Tyr)
n.1273T>A
c.635T>A (p.Phe212Tyr)
c.265+113605T>A (n.265+113605T>A)
c.416T>A (p.Phe139Tyr)
c.989T>A (p.Phe330Tyr)
n.14019T>A
c.14003T>A (p.Phe4668Tyr)
c.13925T>A (p.Phe4642Tyr)
c.11309T>A (p.Phe3770Tyr)
c.14027T>A (p.Phe4676Tyr)
c.14024T>A (p.Phe4675Tyr)
c.13946T>A (p.Phe4649Tyr)
c.13931T>A (p.Phe4644Tyr)
c.7145T>A (p.Phe2382Tyr)
c.7124T>A (p.Phe2375Tyr)
n.14022T>A
5g.90789814T>CCA360399030ADGRV1c.14006T>C (p.Phe4669Ser)
c.2960T>C (p.Phe987Ser)
n.1273T>C
c.635T>C (p.Phe212Ser)
c.265+113605T>C (n.265+113605T>C)
c.416T>C (p.Phe139Ser)
c.989T>C (p.Phe330Ser)
n.14019T>C
c.14003T>C (p.Phe4668Ser)
c.13925T>C (p.Phe4642Ser)
c.11309T>C (p.Phe3770Ser)
c.14027T>C (p.Phe4676Ser)
c.14024T>C (p.Phe4675Ser)
c.13946T>C (p.Phe4649Ser)
c.13931T>C (p.Phe4644Ser)
c.7145T>C (p.Phe2382Ser)
c.7124T>C (p.Phe2375Ser)
n.14022T>C
 gnomAD v4
5g.90789814T>GCA360399032ADGRV1c.14006T>G (p.Phe4669Cys)
c.2960T>G (p.Phe987Cys)
n.1273T>G
c.635T>G (p.Phe212Cys)
c.265+113605T>G (n.265+113605T>G)
c.416T>G (p.Phe139Cys)
c.989T>G (p.Phe330Cys)
n.14019T>G
c.14003T>G (p.Phe4668Cys)
c.13925T>G (p.Phe4642Cys)
c.11309T>G (p.Phe3770Cys)
c.14027T>G (p.Phe4676Cys)
c.14024T>G (p.Phe4675Cys)
c.13946T>G (p.Phe4649Cys)
c.13931T>G (p.Phe4644Cys)
c.7145T>G (p.Phe2382Cys)
c.7124T>G (p.Phe2375Cys)
n.14022T>G
5g.90789815T>ACA360399035ADGRV1c.14007T>A (p.Phe4669Leu)
c.2961T>A (p.Phe987Leu)
n.1274T>A
c.636T>A (p.Phe212Leu)
c.265+113606T>A (n.265+113606T>A)
c.417T>A (p.Phe139Leu)
c.990T>A (p.Phe330Leu)
n.14020T>A
c.14004T>A (p.Phe4668Leu)
c.13926T>A (p.Phe4642Leu)
c.11310T>A (p.Phe3770Leu)
c.14028T>A (p.Phe4676Leu)
c.14025T>A (p.Phe4675Leu)
c.13947T>A (p.Phe4649Leu)
c.13932T>A (p.Phe4644Leu)
c.7146T>A (p.Phe2382Leu)
c.7125T>A (p.Phe2375Leu)
n.14023T>A
 gnomAD v4
5g.90789815T>CCA445415909ADGRV1c.14007T>C (p.Phe4669=)
c.2961T>C (p.Phe987=)
n.1274T>C
c.636T>C (p.Phe212=)
c.265+113606T>C (n.265+113606T>C)
c.417T>C (p.Phe139=)
c.990T>C (p.Phe330=)
n.14020T>C
c.14004T>C (p.Phe4668=)
c.13926T>C (p.Phe4642=)
c.11310T>C (p.Phe3770=)
c.14028T>C (p.Phe4676=)
c.14025T>C (p.Phe4675=)
c.13947T>C (p.Phe4649=)
c.13932T>C (p.Phe4644=)
c.7146T>C (p.Phe2382=)
c.7125T>C (p.Phe2375=)
n.14023T>C
 gnomAD v4
5g.90789815T>GCA360399036ADGRV1c.14007T>G (p.Phe4669Leu)
c.2961T>G (p.Phe987Leu)
n.1274T>G
c.636T>G (p.Phe212Leu)
c.265+113606T>G (n.265+113606T>G)
c.417T>G (p.Phe139Leu)
c.990T>G (p.Phe330Leu)
n.14020T>G
c.14004T>G (p.Phe4668Leu)
c.13926T>G (p.Phe4642Leu)
c.11310T>G (p.Phe3770Leu)
c.14028T>G (p.Phe4676Leu)
c.14025T>G (p.Phe4675Leu)
c.13947T>G (p.Phe4649Leu)
c.13932T>G (p.Phe4644Leu)
c.7146T>G (p.Phe2382Leu)
c.7125T>G (p.Phe2375Leu)
n.14023T>G
5g.90789816G>ACA360399038ADGRV1c.14008G>A (p.Val4670Ile)
c.2962G>A (p.Val988Ile)
n.1275G>A
c.637G>A (p.Val213Ile)
c.265+113607G>A (n.265+113607G>A)
c.418G>A (p.Val140Ile)
c.991G>A (p.Val331Ile)
n.14021G>A
c.14005G>A (p.Val4669Ile)
c.13927G>A (p.Val4643Ile)
c.11311G>A (p.Val3771Ile)
c.14029G>A (p.Val4677Ile)
c.14026G>A (p.Val4676Ile)
c.13948G>A (p.Val4650Ile)
c.13933G>A (p.Val4645Ile)
c.7147G>A (p.Val2383Ile)
c.7126G>A (p.Val2376Ile)
n.14024G>A
 ClinVar dbSNP gnomAD v4
5g.90789816G>CCA360399041ADGRV1c.14008G>C (p.Val4670Leu)
c.2962G>C (p.Val988Leu)
n.1275G>C
c.637G>C (p.Val213Leu)
c.265+113607G>C (n.265+113607G>C)
c.418G>C (p.Val140Leu)
c.991G>C (p.Val331Leu)
n.14021G>C
c.14005G>C (p.Val4669Leu)
c.13927G>C (p.Val4643Leu)
c.11311G>C (p.Val3771Leu)
c.14029G>C (p.Val4677Leu)
c.14026G>C (p.Val4676Leu)
c.13948G>C (p.Val4650Leu)
c.13933G>C (p.Val4645Leu)
c.7147G>C (p.Val2383Leu)
c.7126G>C (p.Val2376Leu)
n.14024G>C
5g.90789816G=CA1562901700ADGRV1c.14008G= (p.Val4670=)
c.2962G= (p.Val988=)
n.1275G=
c.637G= (p.Val213=)
c.265+113607G= (n.265+113607G=)
c.418G= (p.Val140=)
c.991G= (p.Val331=)
n.14021G=
c.14005G= (p.Val4669=)
c.13927G= (p.Val4643=)
c.11311G= (p.Val3771=)
c.14029G= (p.Val4677=)
c.14026G= (p.Val4676=)
c.13948G= (p.Val4650=)
c.13933G= (p.Val4645=)
c.7147G= (p.Val2383=)
c.7126G= (p.Val2376=)
n.14024G=
5g.90789816G>TCA360399042ADGRV1c.14008G>T (p.Val4670Phe)
c.2962G>T (p.Val988Phe)
n.1275G>T
c.637G>T (p.Val213Phe)
c.265+113607G>T (n.265+113607G>T)
c.418G>T (p.Val140Phe)
c.991G>T (p.Val331Phe)
n.14021G>T
c.14005G>T (p.Val4669Phe)
c.13927G>T (p.Val4643Phe)
c.11311G>T (p.Val3771Phe)
c.14029G>T (p.Val4677Phe)
c.14026G>T (p.Val4676Phe)
c.13948G>T (p.Val4650Phe)
c.13933G>T (p.Val4645Phe)
c.7147G>T (p.Val2383Phe)
c.7126G>T (p.Val2376Phe)
n.14024G>T
 gnomAD v4
5g.90789817T>ACA360399044ADGRV1c.14009T>A (p.Val4670Asp)
c.2963T>A (p.Val988Asp)
n.1276T>A
c.638T>A (p.Val213Asp)
c.265+113608T>A (n.265+113608T>A)
c.419T>A (p.Val140Asp)
c.992T>A (p.Val331Asp)
n.14022T>A
c.14006T>A (p.Val4669Asp)
c.13928T>A (p.Val4643Asp)
c.11312T>A (p.Val3771Asp)
c.14030T>A (p.Val4677Asp)
c.14027T>A (p.Val4676Asp)
c.13949T>A (p.Val4650Asp)
c.13934T>A (p.Val4645Asp)
c.7148T>A (p.Val2383Asp)
c.7127T>A (p.Val2376Asp)
n.14025T>A
 gnomAD v4
5g.90789817T>CCA360399045ADGRV1c.14009T>C (p.Val4670Ala)
c.2963T>C (p.Val988Ala)
n.1276T>C
c.638T>C (p.Val213Ala)
c.265+113608T>C (n.265+113608T>C)
c.419T>C (p.Val140Ala)
c.992T>C (p.Val331Ala)
n.14022T>C
c.14006T>C (p.Val4669Ala)
c.13928T>C (p.Val4643Ala)
c.11312T>C (p.Val3771Ala)
c.14030T>C (p.Val4677Ala)
c.14027T>C (p.Val4676Ala)
c.13949T>C (p.Val4650Ala)
c.13934T>C (p.Val4645Ala)
c.7148T>C (p.Val2383Ala)
c.7127T>C (p.Val2376Ala)
n.14025T>C
 gnomAD v4 COSMIC
5g.90789817T>GCA360399047ADGRV1c.14009T>G (p.Val4670Gly)
c.2963T>G (p.Val988Gly)
n.1276T>G
c.638T>G (p.Val213Gly)
c.265+113608T>G (n.265+113608T>G)
c.419T>G (p.Val140Gly)
c.992T>G (p.Val331Gly)
n.14022T>G
c.14006T>G (p.Val4669Gly)
c.13928T>G (p.Val4643Gly)
c.11312T>G (p.Val3771Gly)
c.14030T>G (p.Val4677Gly)
c.14027T>G (p.Val4676Gly)
c.13949T>G (p.Val4650Gly)
c.13934T>G (p.Val4645Gly)
c.7148T>G (p.Val2383Gly)
c.7127T>G (p.Val2376Gly)
n.14025T>G
5g.90789818C>ACA445415916ADGRV1c.14010C>A (p.Val4670=)
c.2964C>A (p.Val988=)
n.1277C>A
c.639C>A (p.Val213=)
c.265+113609C>A (n.265+113609C>A)
c.420C>A (p.Val140=)
c.993C>A (p.Val331=)
n.14023C>A
c.14007C>A (p.Val4669=)
c.13929C>A (p.Val4643=)
c.11313C>A (p.Val3771=)
c.14031C>A (p.Val4677=)
c.14028C>A (p.Val4676=)
c.13950C>A (p.Val4650=)
c.13935C>A (p.Val4645=)
c.7149C>A (p.Val2383=)
c.7128C>A (p.Val2376=)
n.14026C>A
 gnomAD v4
5g.90789818C>GCA445415917ADGRV1c.14010C>G (p.Val4670=)
c.2964C>G (p.Val988=)
n.1277C>G
c.639C>G (p.Val213=)
c.265+113609C>G (n.265+113609C>G)
c.420C>G (p.Val140=)
c.993C>G (p.Val331=)
n.14023C>G
c.14007C>G (p.Val4669=)
c.13929C>G (p.Val4643=)
c.11313C>G (p.Val3771=)
c.14031C>G (p.Val4677=)
c.14028C>G (p.Val4676=)
c.13950C>G (p.Val4650=)
c.13935C>G (p.Val4645=)
c.7149C>G (p.Val2383=)
c.7128C>G (p.Val2376=)
n.14026C>G
5g.90789818C>TCA445415918ADGRV1c.14010C>T (p.Val4670=)
c.2964C>T (p.Val988=)
n.1277C>T
c.639C>T (p.Val213=)
c.265+113609C>T (n.265+113609C>T)
c.420C>T (p.Val140=)
c.993C>T (p.Val331=)
n.14023C>T
c.14007C>T (p.Val4669=)
c.13929C>T (p.Val4643=)
c.11313C>T (p.Val3771=)
c.14031C>T (p.Val4677=)
c.14028C>T (p.Val4676=)
c.13950C>T (p.Val4650=)
c.13935C>T (p.Val4645=)
c.7149C>T (p.Val2383=)
c.7128C>T (p.Val2376=)
n.14026C>T
 ClinVar gnomAD v4
5g.90789819A>CCA445415920ADGRV1c.14011A>C (p.Arg4671=)
c.2965A>C (p.Arg989=)
n.1278A>C
c.640A>C (p.Arg214=)
c.265+113610A>C (n.265+113610A>C)
c.421A>C (p.Arg141=)
c.994A>C (p.Arg332=)
n.14024A>C
c.14008A>C (p.Arg4670=)
c.13930A>C (p.Arg4644=)
c.11314A>C (p.Arg3772=)
c.14032A>C (p.Arg4678=)
c.14029A>C (p.Arg4677=)
c.13951A>C (p.Arg4651=)
c.13936A>C (p.Arg4646=)
c.7150A>C (p.Arg2384=)
c.7129A>C (p.Arg2377=)
n.14027A>C
5g.90789819A>GCA360399049ADGRV1c.14011A>G (p.Arg4671Gly)
c.2965A>G (p.Arg989Gly)
n.1278A>G
c.640A>G (p.Arg214Gly)
c.265+113610A>G (n.265+113610A>G)
c.421A>G (p.Arg141Gly)
c.994A>G (p.Arg332Gly)
n.14024A>G
c.14008A>G (p.Arg4670Gly)
c.13930A>G (p.Arg4644Gly)
c.11314A>G (p.Arg3772Gly)
c.14032A>G (p.Arg4678Gly)
c.14029A>G (p.Arg4677Gly)
c.13951A>G (p.Arg4651Gly)
c.13936A>G (p.Arg4646Gly)
c.7150A>G (p.Arg2384Gly)
c.7129A>G (p.Arg2377Gly)
n.14027A>G
 gnomAD v4
5g.90789819A>TCA360399051ADGRV1c.14011A>T (p.Arg4671Ter)
c.2965A>T (p.Arg989Ter)
n.1278A>T
c.640A>T (p.Arg214Ter)
c.265+113610A>T (n.265+113610A>T)
c.421A>T (p.Arg141Ter)
c.994A>T (p.Arg332Ter)
n.14024A>T
c.14008A>T (p.Arg4670Ter)
c.13930A>T (p.Arg4644Ter)
c.11314A>T (p.Arg3772Ter)
c.14032A>T (p.Arg4678Ter)
c.14029A>T (p.Arg4677Ter)
c.13951A>T (p.Arg4651Ter)
c.13936A>T (p.Arg4646Ter)
c.7150A>T (p.Arg2384Ter)
c.7129A>T (p.Arg2377Ter)
n.14027A>T
5g.90789820G>ACA360399052ADGRV1c.14012G>A (p.Arg4671Lys)
c.2966G>A (p.Arg989Lys)
n.1279G>A
c.641G>A (p.Arg214Lys)
c.265+113611G>A (n.265+113611G>A)
c.422G>A (p.Arg141Lys)
c.995G>A (p.Arg332Lys)
n.14025G>A
c.14009G>A (p.Arg4670Lys)
c.13931G>A (p.Arg4644Lys)
c.11315G>A (p.Arg3772Lys)
c.14033G>A (p.Arg4678Lys)
c.14030G>A (p.Arg4677Lys)
c.13952G>A (p.Arg4651Lys)
c.13937G>A (p.Arg4646Lys)
c.7151G>A (p.Arg2384Lys)
c.7130G>A (p.Arg2377Lys)
n.14028G>A
 gnomAD v4
5g.90789820G>CCA360399057ADGRV1c.14012G>C (p.Arg4671Thr)
c.2966G>C (p.Arg989Thr)
n.1279G>C
c.641G>C (p.Arg214Thr)
c.265+113611G>C (n.265+113611G>C)
c.422G>C (p.Arg141Thr)
c.995G>C (p.Arg332Thr)
n.14025G>C
c.14009G>C (p.Arg4670Thr)
c.13931G>C (p.Arg4644Thr)
c.11315G>C (p.Arg3772Thr)
c.14033G>C (p.Arg4678Thr)
c.14030G>C (p.Arg4677Thr)
c.13952G>C (p.Arg4651Thr)
c.13937G>C (p.Arg4646Thr)
c.7151G>C (p.Arg2384Thr)
c.7130G>C (p.Arg2377Thr)
n.14028G>C
 gnomAD v4
5g.90789820G>TCA360399055ADGRV1c.14012G>T (p.Arg4671Ile)
c.2966G>T (p.Arg989Ile)
n.1279G>T
c.641G>T (p.Arg214Ile)
c.265+113611G>T (n.265+113611G>T)
c.422G>T (p.Arg141Ile)
c.995G>T (p.Arg332Ile)
n.14025G>T
c.14009G>T (p.Arg4670Ile)
c.13931G>T (p.Arg4644Ile)
c.11315G>T (p.Arg3772Ile)
c.14033G>T (p.Arg4678Ile)
c.14030G>T (p.Arg4677Ile)
c.13952G>T (p.Arg4651Ile)
c.13937G>T (p.Arg4646Ile)
c.7151G>T (p.Arg2384Ile)
c.7130G>T (p.Arg2377Ile)
n.14028G>T
 gnomAD v4
5g.90789821A>CCA360399058ADGRV1c.14013A>C (p.Arg4671Ser)
c.2967A>C (p.Arg989Ser)
n.1280A>C
c.642A>C (p.Arg214Ser)
c.265+113612A>C (n.265+113612A>C)
c.423A>C (p.Arg141Ser)
c.996A>C (p.Arg332Ser)
n.14026A>C
c.14010A>C (p.Arg4670Ser)
c.13932A>C (p.Arg4644Ser)
c.11316A>C (p.Arg3772Ser)
c.14034A>C (p.Arg4678Ser)
c.14031A>C (p.Arg4677Ser)
c.13953A>C (p.Arg4651Ser)
c.13938A>C (p.Arg4646Ser)
c.7152A>C (p.Arg2384Ser)
c.7131A>C (p.Arg2377Ser)
n.14029A>C
5g.90789821A>GCA445415923ADGRV1c.14013A>G (p.Arg4671=)
c.2967A>G (p.Arg989=)
n.1280A>G
c.642A>G (p.Arg214=)
c.265+113612A>G (n.265+113612A>G)
c.423A>G (p.Arg141=)
c.996A>G (p.Arg332=)
n.14026A>G
c.14010A>G (p.Arg4670=)
c.13932A>G (p.Arg4644=)
c.11316A>G (p.Arg3772=)
c.14034A>G (p.Arg4678=)
c.14031A>G (p.Arg4677=)
c.13953A>G (p.Arg4651=)
c.13938A>G (p.Arg4646=)
c.7152A>G (p.Arg2384=)
c.7131A>G (p.Arg2377=)
n.14029A>G
 gnomAD v4
5g.90789821A>TCA360399061ADGRV1c.14013A>T (p.Arg4671Ser)
c.2967A>T (p.Arg989Ser)
n.1280A>T
c.642A>T (p.Arg214Ser)
c.265+113612A>T (n.265+113612A>T)
c.423A>T (p.Arg141Ser)
c.996A>T (p.Arg332Ser)
n.14026A>T
c.14010A>T (p.Arg4670Ser)
c.13932A>T (p.Arg4644Ser)
c.11316A>T (p.Arg3772Ser)
c.14034A>T (p.Arg4678Ser)
c.14031A>T (p.Arg4677Ser)
c.13953A>T (p.Arg4651Ser)
c.13938A>T (p.Arg4646Ser)
c.7152A>T (p.Arg2384Ser)
c.7131A>T (p.Arg2377Ser)
n.14029A>T
5g.90789822delCA2674571738ADGRV1c.14014del (p.Arg4672GlufsTer15)
c.2968del (p.Arg990GlufsTer15)
n.1281del
c.643del (p.Arg215GlufsTer15)
c.265+113613del (n.265+113613del)
c.424del (p.Arg142GlufsTer15)
c.997del (p.Arg333GlufsTer15)
n.14027del
c.14011del (p.Arg4671GlufsTer15)
c.13933del (p.Arg4645GlufsTer15)
c.11317del (p.Arg3773GlufsTer15)
c.14035del (p.Arg4679GlufsTer15)
c.14032del (p.Arg4678GlufsTer15)
c.13954del (p.Arg4652GlufsTer15)
c.13939del (p.Arg4647GlufsTer15)
c.7153del (p.Arg2385GlufsTer15)
c.7132del (p.Arg2378GlufsTer15)
n.14030del
 gnomAD v4
5g.90789822A=CA1562901701ADGRV1c.14014A= (p.Arg4672=)
c.2968A= (p.Arg990=)
n.1281A=
c.643A= (p.Arg215=)
c.265+113613A= (n.265+113613A=)
c.424A= (p.Arg142=)
c.997A= (p.Arg333=)
n.14027A=
c.14011A= (p.Arg4671=)
c.13933A= (p.Arg4645=)
c.11317A= (p.Arg3773=)
c.14035A= (p.Arg4679=)
c.14032A= (p.Arg4678=)
c.13954A= (p.Arg4652=)
c.13939A= (p.Arg4647=)
c.7153A= (p.Arg2385=)
c.7132A= (p.Arg2378=)
n.14030A=
5g.90789822A>CCA445415925ADGRV1c.14014A>C (p.Arg4672=)
c.2968A>C (p.Arg990=)
n.1281A>C
c.643A>C (p.Arg215=)
c.265+113613A>C (n.265+113613A>C)
c.424A>C (p.Arg142=)
c.997A>C (p.Arg333=)
n.14027A>C
c.14011A>C (p.Arg4671=)
c.13933A>C (p.Arg4645=)
c.11317A>C (p.Arg3773=)
c.14035A>C (p.Arg4679=)
c.14032A>C (p.Arg4678=)
c.13954A>C (p.Arg4652=)
c.13939A>C (p.Arg4647=)
c.7153A>C (p.Arg2385=)
c.7132A>C (p.Arg2378=)
n.14030A>C
5g.90789822A>GCA360399063ADGRV1c.14014A>G (p.Arg4672Gly)
c.2968A>G (p.Arg990Gly)
n.1281A>G
c.643A>G (p.Arg215Gly)
c.265+113613A>G (n.265+113613A>G)
c.424A>G (p.Arg142Gly)
c.997A>G (p.Arg333Gly)
n.14027A>G
c.14011A>G (p.Arg4671Gly)
c.13933A>G (p.Arg4645Gly)
c.11317A>G (p.Arg3773Gly)
c.14035A>G (p.Arg4679Gly)
c.14032A>G (p.Arg4678Gly)
c.13954A>G (p.Arg4652Gly)
c.13939A>G (p.Arg4647Gly)
c.7153A>G (p.Arg2385Gly)
c.7132A>G (p.Arg2378Gly)
n.14030A>G
 ClinVar dbSNP gnomAD v4
5g.90789822A>TCA360399065ADGRV1c.14014A>T (p.Arg4672Ter)
c.2968A>T (p.Arg990Ter)
n.1281A>T
c.643A>T (p.Arg215Ter)
c.265+113613A>T (n.265+113613A>T)
c.424A>T (p.Arg142Ter)
c.997A>T (p.Arg333Ter)
n.14027A>T
c.14011A>T (p.Arg4671Ter)
c.13933A>T (p.Arg4645Ter)
c.11317A>T (p.Arg3773Ter)
c.14035A>T (p.Arg4679Ter)
c.14032A>T (p.Arg4678Ter)
c.13954A>T (p.Arg4652Ter)
c.13939A>T (p.Arg4647Ter)
c.7153A>T (p.Arg2385Ter)
c.7132A>T (p.Arg2378Ter)
n.14030A>T
5g.90789823G>ACA360399067ADGRV1c.14015G>A (p.Arg4672Lys)
c.2969G>A (p.Arg990Lys)
n.1282G>A
c.644G>A (p.Arg215Lys)
c.265+113614G>A (n.265+113614G>A)
c.425G>A (p.Arg142Lys)
c.998G>A (p.Arg333Lys)
n.14028G>A
c.14012G>A (p.Arg4671Lys)
c.13934G>A (p.Arg4645Lys)
c.11318G>A (p.Arg3773Lys)
c.14036G>A (p.Arg4679Lys)
c.14033G>A (p.Arg4678Lys)
c.13955G>A (p.Arg4652Lys)
c.13940G>A (p.Arg4647Lys)
c.7154G>A (p.Arg2385Lys)
c.7133G>A (p.Arg2378Lys)
n.14031G>A
5g.90789823G>CCA360399069ADGRV1c.14015G>C (p.Arg4672Thr)
c.2969G>C (p.Arg990Thr)
n.1282G>C
c.644G>C (p.Arg215Thr)
c.265+113614G>C (n.265+113614G>C)
c.425G>C (p.Arg142Thr)
c.998G>C (p.Arg333Thr)
n.14028G>C
c.14012G>C (p.Arg4671Thr)
c.13934G>C (p.Arg4645Thr)
c.11318G>C (p.Arg3773Thr)
c.14036G>C (p.Arg4679Thr)
c.14033G>C (p.Arg4678Thr)
c.13955G>C (p.Arg4652Thr)
c.13940G>C (p.Arg4647Thr)
c.7154G>C (p.Arg2385Thr)
c.7133G>C (p.Arg2378Thr)
n.14031G>C
5g.90789823G=CA1562901702ADGRV1c.14015G= (p.Arg4672=)
c.2969G= (p.Arg990=)
n.1282G=
c.644G= (p.Arg215=)
c.265+113614G= (n.265+113614G=)
c.425G= (p.Arg142=)
c.998G= (p.Arg333=)
n.14028G=
c.14012G= (p.Arg4671=)
c.13934G= (p.Arg4645=)
c.11318G= (p.Arg3773=)
c.14036G= (p.Arg4679=)
c.14033G= (p.Arg4678=)
c.13955G= (p.Arg4652=)
c.13940G= (p.Arg4647=)
c.7154G= (p.Arg2385=)
c.7133G= (p.Arg2378=)
n.14031G=
5g.90789823G>TCA360399070ADGRV1c.14015G>T (p.Arg4672Ile)
c.2969G>T (p.Arg990Ile)
n.1282G>T
c.644G>T (p.Arg215Ile)
c.265+113614G>T (n.265+113614G>T)
c.425G>T (p.Arg142Ile)
c.998G>T (p.Arg333Ile)
n.14028G>T
c.14012G>T (p.Arg4671Ile)
c.13934G>T (p.Arg4645Ile)
c.11318G>T (p.Arg3773Ile)
c.14036G>T (p.Arg4679Ile)
c.14033G>T (p.Arg4678Ile)
c.13955G>T (p.Arg4652Ile)
c.13940G>T (p.Arg4647Ile)
c.7154G>T (p.Arg2385Ile)
c.7133G>T (p.Arg2378Ile)
n.14031G>T
 dbSNP gnomAD v2 gnomAD v4
5g.90789824A>CCA360399073ADGRV1c.14016A>C (p.Arg4672Ser)
c.2970A>C (p.Arg990Ser)
n.1283A>C
c.645A>C (p.Arg215Ser)
c.265+113615A>C (n.265+113615A>C)
c.426A>C (p.Arg142Ser)
c.999A>C (p.Arg333Ser)
n.14029A>C
c.14013A>C (p.Arg4671Ser)
c.13935A>C (p.Arg4645Ser)
c.11319A>C (p.Arg3773Ser)
c.14037A>C (p.Arg4679Ser)
c.14034A>C (p.Arg4678Ser)
c.13956A>C (p.Arg4652Ser)
c.13941A>C (p.Arg4647Ser)
c.7155A>C (p.Arg2385Ser)
c.7134A>C (p.Arg2378Ser)
n.14032A>C
5g.90789824A>GCA445415929ADGRV1c.14016A>G (p.Arg4672=)
c.2970A>G (p.Arg990=)
n.1283A>G
c.645A>G (p.Arg215=)
c.265+113615A>G (n.265+113615A>G)
c.426A>G (p.Arg142=)
c.999A>G (p.Arg333=)
n.14029A>G
c.14013A>G (p.Arg4671=)
c.13935A>G (p.Arg4645=)
c.11319A>G (p.Arg3773=)
c.14037A>G (p.Arg4679=)
c.14034A>G (p.Arg4678=)
c.13956A>G (p.Arg4652=)
c.13941A>G (p.Arg4647=)
c.7155A>G (p.Arg2385=)
c.7134A>G (p.Arg2378=)
n.14032A>G
 gnomAD v4
5g.90789824A>TCA360399074ADGRV1c.14016A>T (p.Arg4672Ser)
c.2970A>T (p.Arg990Ser)
n.1283A>T
c.645A>T (p.Arg215Ser)
c.265+113615A>T (n.265+113615A>T)
c.426A>T (p.Arg142Ser)
c.999A>T (p.Arg333Ser)
n.14029A>T
c.14013A>T (p.Arg4671Ser)
c.13935A>T (p.Arg4645Ser)
c.11319A>T (p.Arg3773Ser)
c.14037A>T (p.Arg4679Ser)
c.14034A>T (p.Arg4678Ser)
c.13956A>T (p.Arg4652Ser)
c.13941A>T (p.Arg4647Ser)
c.7155A>T (p.Arg2385Ser)
c.7134A>T (p.Arg2378Ser)
n.14032A>T
5g.90789825G>ACA360399076ADGRV1c.14017G>A (p.Val4673Ile)
c.2971G>A (p.Val991Ile)
n.1284G>A
c.646G>A (p.Val216Ile)
c.265+113616G>A (n.265+113616G>A)
c.427G>A (p.Val143Ile)
c.1000G>A (p.Val334Ile)
n.14030G>A
c.14014G>A (p.Val4672Ile)
c.13936G>A (p.Val4646Ile)
c.11320G>A (p.Val3774Ile)
c.14038G>A (p.Val4680Ile)
c.14035G>A (p.Val4679Ile)
c.13957G>A (p.Val4653Ile)
c.13942G>A (p.Val4648Ile)
c.7156G>A (p.Val2386Ile)
c.7135G>A (p.Val2379Ile)
n.14033G>A
 gnomAD v4
5g.90789825G>CCA360399078ADGRV1c.14017G>C (p.Val4673Leu)
c.2971G>C (p.Val991Leu)
n.1284G>C
c.646G>C (p.Val216Leu)
c.265+113616G>C (n.265+113616G>C)
c.427G>C (p.Val143Leu)
c.1000G>C (p.Val334Leu)
n.14030G>C
c.14014G>C (p.Val4672Leu)
c.13936G>C (p.Val4646Leu)
c.11320G>C (p.Val3774Leu)
c.14038G>C (p.Val4680Leu)
c.14035G>C (p.Val4679Leu)
c.13957G>C (p.Val4653Leu)
c.13942G>C (p.Val4648Leu)
c.7156G>C (p.Val2386Leu)
c.7135G>C (p.Val2379Leu)
n.14033G>C
5g.90789825G>TCA360399079ADGRV1c.14017G>T (p.Val4673Phe)
c.2971G>T (p.Val991Phe)
n.1284G>T
c.646G>T (p.Val216Phe)
c.265+113616G>T (n.265+113616G>T)
c.427G>T (p.Val143Phe)
c.1000G>T (p.Val334Phe)
n.14030G>T
c.14014G>T (p.Val4672Phe)
c.13936G>T (p.Val4646Phe)
c.11320G>T (p.Val3774Phe)
c.14038G>T (p.Val4680Phe)
c.14035G>T (p.Val4679Phe)
c.13957G>T (p.Val4653Phe)
c.13942G>T (p.Val4648Phe)
c.7156G>T (p.Val2386Phe)
c.7135G>T (p.Val2379Phe)
n.14033G>T
 gnomAD v4
5g.90789826T>ACA360399085ADGRV1c.14018T>A (p.Val4673Asp)
c.2972T>A (p.Val991Asp)
n.1285T>A
c.647T>A (p.Val216Asp)
c.265+113617T>A (n.265+113617T>A)
c.428T>A (p.Val143Asp)
c.1001T>A (p.Val334Asp)
n.14031T>A
c.14015T>A (p.Val4672Asp)
c.13937T>A (p.Val4646Asp)
c.11321T>A (p.Val3774Asp)
c.14039T>A (p.Val4680Asp)
c.14036T>A (p.Val4679Asp)
c.13958T>A (p.Val4653Asp)
c.13943T>A (p.Val4648Asp)
c.7157T>A (p.Val2386Asp)
c.7136T>A (p.Val2379Asp)
n.14034T>A
5g.90789826T>CCA360399082ADGRV1c.14018T>C (p.Val4673Ala)
c.2972T>C (p.Val991Ala)
n.1285T>C
c.647T>C (p.Val216Ala)
c.265+113617T>C (n.265+113617T>C)
c.428T>C (p.Val143Ala)
c.1001T>C (p.Val334Ala)
n.14031T>C
c.14015T>C (p.Val4672Ala)
c.13937T>C (p.Val4646Ala)
c.11321T>C (p.Val3774Ala)
c.14039T>C (p.Val4680Ala)
c.14036T>C (p.Val4679Ala)
c.13958T>C (p.Val4653Ala)
c.13943T>C (p.Val4648Ala)
c.7157T>C (p.Val2386Ala)
c.7136T>C (p.Val2379Ala)
n.14034T>C
 gnomAD v4
5g.90789826T>GCA360399083ADGRV1c.14018T>G (p.Val4673Gly)
c.2972T>G (p.Val991Gly)
n.1285T>G
c.647T>G (p.Val216Gly)
c.265+113617T>G (n.265+113617T>G)
c.428T>G (p.Val143Gly)
c.1001T>G (p.Val334Gly)
n.14031T>G
c.14015T>G (p.Val4672Gly)
c.13937T>G (p.Val4646Gly)
c.11321T>G (p.Val3774Gly)
c.14039T>G (p.Val4680Gly)
c.14036T>G (p.Val4679Gly)
c.13958T>G (p.Val4653Gly)
c.13943T>G (p.Val4648Gly)
c.7157T>G (p.Val2386Gly)
c.7136T>G (p.Val2379Gly)
n.14034T>G
5g.90789827C>ACA445415937ADGRV1c.14019C>A (p.Val4673=)
c.2973C>A (p.Val991=)
n.1286C>A
c.648C>A (p.Val216=)
c.265+113618C>A (n.265+113618C>A)
c.429C>A (p.Val143=)
c.1002C>A (p.Val334=)
n.14032C>A
c.14016C>A (p.Val4672=)
c.13938C>A (p.Val4646=)
c.11322C>A (p.Val3774=)
c.14040C>A (p.Val4680=)
c.14037C>A (p.Val4679=)
c.13959C>A (p.Val4653=)
c.13944C>A (p.Val4648=)
c.7158C>A (p.Val2386=)
c.7137C>A (p.Val2379=)
n.14035C>A
 gnomAD v4
5g.90789827C>GCA445415933ADGRV1c.14019C>G (p.Val4673=)
c.2973C>G (p.Val991=)
n.1286C>G
c.648C>G (p.Val216=)
c.265+113618C>G (n.265+113618C>G)
c.429C>G (p.Val143=)
c.1002C>G (p.Val334=)
n.14032C>G
c.14016C>G (p.Val4672=)
c.13938C>G (p.Val4646=)
c.11322C>G (p.Val3774=)
c.14040C>G (p.Val4680=)
c.14037C>G (p.Val4679=)
c.13959C>G (p.Val4653=)
c.13944C>G (p.Val4648=)
c.7158C>G (p.Val2386=)
c.7137C>G (p.Val2379=)
n.14035C>G
 ClinVar gnomAD v4
5g.90789827C>TCA445415935ADGRV1c.14019C>T (p.Val4673=)
c.2973C>T (p.Val991=)
n.1286C>T
c.648C>T (p.Val216=)
c.265+113618C>T (n.265+113618C>T)
c.429C>T (p.Val143=)
c.1002C>T (p.Val334=)
n.14032C>T
c.14016C>T (p.Val4672=)
c.13938C>T (p.Val4646=)
c.11322C>T (p.Val3774=)
c.14040C>T (p.Val4680=)
c.14037C>T (p.Val4679=)
c.13959C>T (p.Val4653=)
c.13944C>T (p.Val4648=)
c.7158C>T (p.Val2386=)
c.7137C>T (p.Val2379=)
n.14035C>T
5g.90789828A>CCA360399087ADGRV1c.14020A>C (p.Lys4674Gln)
c.2974A>C (p.Lys992Gln)
n.1287A>C
c.649A>C (p.Lys217Gln)
c.265+113619A>C (n.265+113619A>C)
c.430A>C (p.Lys144Gln)
c.1003A>C (p.Lys335Gln)
n.14033A>C
c.14017A>C (p.Lys4673Gln)
c.13939A>C (p.Lys4647Gln)
c.11323A>C (p.Lys3775Gln)
c.14041A>C (p.Lys4681Gln)
c.14038A>C (p.Lys4680Gln)
c.13960A>C (p.Lys4654Gln)
c.13945A>C (p.Lys4649Gln)
c.7159A>C (p.Lys2387Gln)
c.7138A>C (p.Lys2380Gln)
n.14036A>C
5g.90789828A>GCA360399089ADGRV1c.14020A>G (p.Lys4674Glu)
c.2974A>G (p.Lys992Glu)
n.1287A>G
c.649A>G (p.Lys217Glu)
c.265+113619A>G (n.265+113619A>G)
c.430A>G (p.Lys144Glu)
c.1003A>G (p.Lys335Glu)
n.14033A>G
c.14017A>G (p.Lys4673Glu)
c.13939A>G (p.Lys4647Glu)
c.11323A>G (p.Lys3775Glu)
c.14041A>G (p.Lys4681Glu)
c.14038A>G (p.Lys4680Glu)
c.13960A>G (p.Lys4654Glu)
c.13945A>G (p.Lys4649Glu)
c.7159A>G (p.Lys2387Glu)
c.7138A>G (p.Lys2380Glu)
n.14036A>G
 gnomAD v4
5g.90789828A>TCA360399091ADGRV1c.14020A>T (p.Lys4674Ter)
c.2974A>T (p.Lys992Ter)
n.1287A>T
c.649A>T (p.Lys217Ter)
c.265+113619A>T (n.265+113619A>T)
c.430A>T (p.Lys144Ter)
c.1003A>T (p.Lys335Ter)
n.14033A>T
c.14017A>T (p.Lys4673Ter)
c.13939A>T (p.Lys4647Ter)
c.11323A>T (p.Lys3775Ter)
c.14041A>T (p.Lys4681Ter)
c.14038A>T (p.Lys4680Ter)
c.13960A>T (p.Lys4654Ter)
c.13945A>T (p.Lys4649Ter)
c.7159A>T (p.Lys2387Ter)
c.7138A>T (p.Lys2380Ter)
n.14036A>T
 gnomAD v4
5g.90789829A=CA1562901703ADGRV1c.14021A= (p.Lys4674=)
c.2975A= (p.Lys992=)
n.1288A=
c.650A= (p.Lys217=)
c.265+113620A= (n.265+113620A=)
c.431A= (p.Lys144=)
c.1004A= (p.Lys335=)
n.14034A=
c.14018A= (p.Lys4673=)
c.13940A= (p.Lys4647=)
c.11324A= (p.Lys3775=)
c.14042A= (p.Lys4681=)
c.14039A= (p.Lys4680=)
c.13961A= (p.Lys4654=)
c.13946A= (p.Lys4649=)
c.7160A= (p.Lys2387=)
c.7139A= (p.Lys2380=)
n.14037A=
5g.90789829A>CCA360399093ADGRV1c.14021A>C (p.Lys4674Thr)
c.2975A>C (p.Lys992Thr)
n.1288A>C
c.650A>C (p.Lys217Thr)
c.265+113620A>C (n.265+113620A>C)
c.431A>C (p.Lys144Thr)
c.1004A>C (p.Lys335Thr)
n.14034A>C
c.14018A>C (p.Lys4673Thr)
c.13940A>C (p.Lys4647Thr)
c.11324A>C (p.Lys3775Thr)
c.14042A>C (p.Lys4681Thr)
c.14039A>C (p.Lys4680Thr)
c.13961A>C (p.Lys4654Thr)
c.13946A>C (p.Lys4649Thr)
c.7160A>C (p.Lys2387Thr)
c.7139A>C (p.Lys2380Thr)
n.14037A>C
5g.90789829A>GCA360399095ADGRV1c.14021A>G (p.Lys4674Arg)
c.2975A>G (p.Lys992Arg)
n.1288A>G
c.650A>G (p.Lys217Arg)
c.265+113620A>G (n.265+113620A>G)
c.431A>G (p.Lys144Arg)
c.1004A>G (p.Lys335Arg)
n.14034A>G
c.14018A>G (p.Lys4673Arg)
c.13940A>G (p.Lys4647Arg)
c.11324A>G (p.Lys3775Arg)
c.14042A>G (p.Lys4681Arg)
c.14039A>G (p.Lys4680Arg)
c.13961A>G (p.Lys4654Arg)
c.13946A>G (p.Lys4649Arg)
c.7160A>G (p.Lys2387Arg)
c.7139A>G (p.Lys2380Arg)
n.14037A>G
 dbSNP gnomAD v4
5g.90789829A>TCA360399097ADGRV1c.14021A>T (p.Lys4674Met)
c.2975A>T (p.Lys992Met)
n.1288A>T
c.650A>T (p.Lys217Met)
c.265+113620A>T (n.265+113620A>T)
c.431A>T (p.Lys144Met)
c.1004A>T (p.Lys335Met)
n.14034A>T
c.14018A>T (p.Lys4673Met)
c.13940A>T (p.Lys4647Met)
c.11324A>T (p.Lys3775Met)
c.14042A>T (p.Lys4681Met)
c.14039A>T (p.Lys4680Met)
c.13961A>T (p.Lys4654Met)
c.13946A>T (p.Lys4649Met)
c.7160A>T (p.Lys2387Met)
c.7139A>T (p.Lys2380Met)
n.14037A>T
5g.90789830G>ACA445415939ADGRV1c.14022G>A (p.Lys4674=)
c.2976G>A (p.Lys992=)
n.1289G>A
c.651G>A (p.Lys217=)
c.265+113621G>A (n.265+113621G>A)
c.432G>A (p.Lys144=)
c.1005G>A (p.Lys335=)
n.14035G>A
c.14019G>A (p.Lys4673=)
c.13941G>A (p.Lys4647=)
c.11325G>A (p.Lys3775=)
c.14043G>A (p.Lys4681=)
c.14040G>A (p.Lys4680=)
c.13962G>A (p.Lys4654=)
c.13947G>A (p.Lys4649=)
c.7161G>A (p.Lys2387=)
c.7140G>A (p.Lys2380=)
n.14038G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90789830G>CCA360399099ADGRV1c.14022G>C (p.Lys4674Asn)
c.2976G>C (p.Lys992Asn)
n.1289G>C
c.651G>C (p.Lys217Asn)
c.265+113621G>C (n.265+113621G>C)
c.432G>C (p.Lys144Asn)
c.1005G>C (p.Lys335Asn)
n.14035G>C
c.14019G>C (p.Lys4673Asn)
c.13941G>C (p.Lys4647Asn)
c.11325G>C (p.Lys3775Asn)
c.14043G>C (p.Lys4681Asn)
c.14040G>C (p.Lys4680Asn)
c.13962G>C (p.Lys4654Asn)
c.13947G>C (p.Lys4649Asn)
c.7161G>C (p.Lys2387Asn)
c.7140G>C (p.Lys2380Asn)
n.14038G>C
5g.90789830G=CA1562901704ADGRV1c.14022G= (p.Lys4674=)
c.2976G= (p.Lys992=)
n.1289G=
c.651G= (p.Lys217=)
c.265+113621G= (n.265+113621G=)
c.432G= (p.Lys144=)
c.1005G= (p.Lys335=)
n.14035G=
c.14019G= (p.Lys4673=)
c.13941G= (p.Lys4647=)
c.11325G= (p.Lys3775=)
c.14043G= (p.Lys4681=)
c.14040G= (p.Lys4680=)
c.13962G= (p.Lys4654=)
c.13947G= (p.Lys4649=)
c.7161G= (p.Lys2387=)
c.7140G= (p.Lys2380=)
n.14038G=
5g.90789830G>TCA360399101ADGRV1c.14022G>T (p.Lys4674Asn)
c.2976G>T (p.Lys992Asn)
n.1289G>T
c.651G>T (p.Lys217Asn)
c.265+113621G>T (n.265+113621G>T)
c.432G>T (p.Lys144Asn)
c.1005G>T (p.Lys335Asn)
n.14035G>T
c.14019G>T (p.Lys4673Asn)
c.13941G>T (p.Lys4647Asn)
c.11325G>T (p.Lys3775Asn)
c.14043G>T (p.Lys4681Asn)
c.14040G>T (p.Lys4680Asn)
c.13962G>T (p.Lys4654Asn)
c.13947G>T (p.Lys4649Asn)
c.7161G>T (p.Lys2387Asn)
c.7140G>T (p.Lys2380Asn)
n.14038G>T
 gnomAD v4
5g.90789831G>ACA360399103ADGRV1c.14023G>A (p.Gly4675Ser)
c.2977G>A (p.Gly993Ser)
n.1290G>A
c.652G>A (p.Gly218Ser)
c.265+113622G>A (n.265+113622G>A)
c.433G>A (p.Gly145Ser)
c.1006G>A (p.Gly336Ser)
n.14036G>A
c.14020G>A (p.Gly4674Ser)
c.13942G>A (p.Gly4648Ser)
c.11326G>A (p.Gly3776Ser)
c.14044G>A (p.Gly4682Ser)
c.14041G>A (p.Gly4681Ser)
c.13963G>A (p.Gly4655Ser)
c.13948G>A (p.Gly4650Ser)
c.7162G>A (p.Gly2388Ser)
c.7141G>A (p.Gly2381Ser)
n.14039G>A
 gnomAD v4
5g.90789831G>CCA360399105ADGRV1c.14023G>C (p.Gly4675Arg)
c.2977G>C (p.Gly993Arg)
n.1290G>C
c.652G>C (p.Gly218Arg)
c.265+113622G>C (n.265+113622G>C)
c.433G>C (p.Gly145Arg)
c.1006G>C (p.Gly336Arg)
n.14036G>C
c.14020G>C (p.Gly4674Arg)
c.13942G>C (p.Gly4648Arg)
c.11326G>C (p.Gly3776Arg)
c.14044G>C (p.Gly4682Arg)
c.14041G>C (p.Gly4681Arg)
c.13963G>C (p.Gly4655Arg)
c.13948G>C (p.Gly4650Arg)
c.7162G>C (p.Gly2388Arg)
c.7141G>C (p.Gly2381Arg)
n.14039G>C
 gnomAD v4
5g.90789831G>TCA360399107ADGRV1c.14023G>T (p.Gly4675Cys)
c.2977G>T (p.Gly993Cys)
n.1290G>T
c.652G>T (p.Gly218Cys)
c.265+113622G>T (n.265+113622G>T)
c.433G>T (p.Gly145Cys)
c.1006G>T (p.Gly336Cys)
n.14036G>T
c.14020G>T (p.Gly4674Cys)
c.13942G>T (p.Gly4648Cys)
c.11326G>T (p.Gly3776Cys)
c.14044G>T (p.Gly4682Cys)
c.14041G>T (p.Gly4681Cys)
c.13963G>T (p.Gly4655Cys)
c.13948G>T (p.Gly4650Cys)
c.7162G>T (p.Gly2388Cys)
c.7141G>T (p.Gly2381Cys)
n.14039G>T
 gnomAD v4
5g.90789832G>ACA360399113ADGRV1c.14024G>A (p.Gly4675Asp)
c.2978G>A (p.Gly993Asp)
n.1291G>A
c.653G>A (p.Gly218Asp)
c.265+113623G>A (n.265+113623G>A)
c.434G>A (p.Gly145Asp)
c.1007G>A (p.Gly336Asp)
n.14037G>A
c.14021G>A (p.Gly4674Asp)
c.13943G>A (p.Gly4648Asp)
c.11327G>A (p.Gly3776Asp)
c.14045G>A (p.Gly4682Asp)
c.14042G>A (p.Gly4681Asp)
c.13964G>A (p.Gly4655Asp)
c.13949G>A (p.Gly4650Asp)
c.7163G>A (p.Gly2388Asp)
c.7142G>A (p.Gly2381Asp)
n.14040G>A
 gnomAD v4
5g.90789832G>CCA360399111ADGRV1c.14024G>C (p.Gly4675Ala)
c.2978G>C (p.Gly993Ala)
n.1291G>C
c.653G>C (p.Gly218Ala)
c.265+113623G>C (n.265+113623G>C)
c.434G>C (p.Gly145Ala)
c.1007G>C (p.Gly336Ala)
n.14037G>C
c.14021G>C (p.Gly4674Ala)
c.13943G>C (p.Gly4648Ala)
c.11327G>C (p.Gly3776Ala)
c.14045G>C (p.Gly4682Ala)
c.14042G>C (p.Gly4681Ala)
c.13964G>C (p.Gly4655Ala)
c.13949G>C (p.Gly4650Ala)
c.7163G>C (p.Gly2388Ala)
c.7142G>C (p.Gly2381Ala)
n.14040G>C
5g.90789832G>TCA360399109ADGRV1c.14024G>T (p.Gly4675Val)
c.2978G>T (p.Gly993Val)
n.1291G>T
c.653G>T (p.Gly218Val)
c.265+113623G>T (n.265+113623G>T)
c.434G>T (p.Gly145Val)
c.1007G>T (p.Gly336Val)
n.14037G>T
c.14021G>T (p.Gly4674Val)
c.13943G>T (p.Gly4648Val)
c.11327G>T (p.Gly3776Val)
c.14045G>T (p.Gly4682Val)
c.14042G>T (p.Gly4681Val)
c.13964G>T (p.Gly4655Val)
c.13949G>T (p.Gly4650Val)
c.7163G>T (p.Gly2388Val)
c.7142G>T (p.Gly2381Val)
n.14040G>T
 gnomAD v4
5g.90789833C>ACA445415944ADGRV1c.14025C>A (p.Gly4675=)
c.2979C>A (p.Gly993=)
n.1292C>A
c.654C>A (p.Gly218=)
c.265+113624C>A (n.265+113624C>A)
c.435C>A (p.Gly145=)
c.1008C>A (p.Gly336=)
n.14038C>A
c.14022C>A (p.Gly4674=)
c.13944C>A (p.Gly4648=)
c.11328C>A (p.Gly3776=)
c.14046C>A (p.Gly4682=)
c.14043C>A (p.Gly4681=)
c.13965C>A (p.Gly4655=)
c.13950C>A (p.Gly4650=)
c.7164C>A (p.Gly2388=)
c.7143C>A (p.Gly2381=)
n.14041C>A
 gnomAD v4
5g.90789833C=CA1562901705ADGRV1c.14025C= (p.Gly4675=)
c.2979C= (p.Gly993=)
n.1292C=
c.654C= (p.Gly218=)
c.265+113624C= (n.265+113624C=)
c.435C= (p.Gly145=)
c.1008C= (p.Gly336=)
n.14038C=
c.14022C= (p.Gly4674=)
c.13944C= (p.Gly4648=)
c.11328C= (p.Gly3776=)
c.14046C= (p.Gly4682=)
c.14043C= (p.Gly4681=)
c.13965C= (p.Gly4655=)
c.13950C= (p.Gly4650=)
c.7164C= (p.Gly2388=)
c.7143C= (p.Gly2381=)
n.14041C=
5g.90789833C>GCA445415946ADGRV1c.14025C>G (p.Gly4675=)
c.2979C>G (p.Gly993=)
n.1292C>G
c.654C>G (p.Gly218=)
c.265+113624C>G (n.265+113624C>G)
c.435C>G (p.Gly145=)
c.1008C>G (p.Gly336=)
n.14038C>G
c.14022C>G (p.Gly4674=)
c.13944C>G (p.Gly4648=)
c.11328C>G (p.Gly3776=)
c.14046C>G (p.Gly4682=)
c.14043C>G (p.Gly4681=)
c.13965C>G (p.Gly4655=)
c.13950C>G (p.Gly4650=)
c.7164C>G (p.Gly2388=)
c.7143C>G (p.Gly2381=)
n.14041C>G
 gnomAD v4
5g.90789833C>TCA3341653ADGRV1c.14025C>T (p.Gly4675=)
c.2979C>T (p.Gly993=)
n.1292C>T
c.654C>T (p.Gly218=)
c.265+113624C>T (n.265+113624C>T)
c.435C>T (p.Gly145=)
c.1008C>T (p.Gly336=)
n.14038C>T
c.14022C>T (p.Gly4674=)
c.13944C>T (p.Gly4648=)
c.11328C>T (p.Gly3776=)
c.14046C>T (p.Gly4682=)
c.14043C>T (p.Gly4681=)
c.13965C>T (p.Gly4655=)
c.13950C>T (p.Gly4650=)
c.7164C>T (p.Gly2388=)
c.7143C>T (p.Gly2381=)
n.14041C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90789834A>CCA360399120ADGRV1c.14026A>C (p.Thr4676Pro)
c.2980A>C (p.Thr994Pro)
n.1293A>C
c.655A>C (p.Thr219Pro)
c.265+113625A>C (n.265+113625A>C)
c.436A>C (p.Thr146Pro)
c.1009A>C (p.Thr337Pro)
n.14039A>C
c.14023A>C (p.Thr4675Pro)
c.13945A>C (p.Thr4649Pro)
c.11329A>C (p.Thr3777Pro)
c.14047A>C (p.Thr4683Pro)
c.14044A>C (p.Thr4682Pro)
c.13966A>C (p.Thr4656Pro)
c.13951A>C (p.Thr4651Pro)
c.7165A>C (p.Thr2389Pro)
c.7144A>C (p.Thr2382Pro)
n.14042A>C
5g.90789834A>GCA360399116ADGRV1c.14026A>G (p.Thr4676Ala)
c.2980A>G (p.Thr994Ala)
n.1293A>G
c.655A>G (p.Thr219Ala)
c.265+113625A>G (n.265+113625A>G)
c.436A>G (p.Thr146Ala)
c.1009A>G (p.Thr337Ala)
n.14039A>G
c.14023A>G (p.Thr4675Ala)
c.13945A>G (p.Thr4649Ala)
c.11329A>G (p.Thr3777Ala)
c.14047A>G (p.Thr4683Ala)
c.14044A>G (p.Thr4682Ala)
c.13966A>G (p.Thr4656Ala)
c.13951A>G (p.Thr4651Ala)
c.7165A>G (p.Thr2389Ala)
c.7144A>G (p.Thr2382Ala)
n.14042A>G
 gnomAD v4
5g.90789834A>TCA360399118ADGRV1c.14026A>T (p.Thr4676Ser)
c.2980A>T (p.Thr994Ser)
n.1293A>T
c.655A>T (p.Thr219Ser)
c.265+113625A>T (n.265+113625A>T)
c.436A>T (p.Thr146Ser)
c.1009A>T (p.Thr337Ser)
n.14039A>T
c.14023A>T (p.Thr4675Ser)
c.13945A>T (p.Thr4649Ser)
c.11329A>T (p.Thr3777Ser)
c.14047A>T (p.Thr4683Ser)
c.14044A>T (p.Thr4682Ser)
c.13966A>T (p.Thr4656Ser)
c.13951A>T (p.Thr4651Ser)
c.7165A>T (p.Thr2389Ser)
c.7144A>T (p.Thr2382Ser)
n.14042A>T
5g.90789835C>ACA360399123ADGRV1c.14027C>A (p.Thr4676Asn)
c.2981C>A (p.Thr994Asn)
n.1294C>A
c.656C>A (p.Thr219Asn)
c.265+113626C>A (n.265+113626C>A)
c.437C>A (p.Thr146Asn)
c.1010C>A (p.Thr337Asn)
n.14040C>A
c.14024C>A (p.Thr4675Asn)
c.13946C>A (p.Thr4649Asn)
c.11330C>A (p.Thr3777Asn)
c.14048C>A (p.Thr4683Asn)
c.14045C>A (p.Thr4682Asn)
c.13967C>A (p.Thr4656Asn)
c.13952C>A (p.Thr4651Asn)
c.7166C>A (p.Thr2389Asn)
c.7145C>A (p.Thr2382Asn)
n.14043C>A
 gnomAD v4
5g.90789835C>GCA360399124ADGRV1c.14027C>G (p.Thr4676Ser)
c.2981C>G (p.Thr994Ser)
n.1294C>G
c.656C>G (p.Thr219Ser)
c.265+113626C>G (n.265+113626C>G)
c.437C>G (p.Thr146Ser)
c.1010C>G (p.Thr337Ser)
n.14040C>G
c.14024C>G (p.Thr4675Ser)
c.13946C>G (p.Thr4649Ser)
c.11330C>G (p.Thr3777Ser)
c.14048C>G (p.Thr4683Ser)
c.14045C>G (p.Thr4682Ser)
c.13967C>G (p.Thr4656Ser)
c.13952C>G (p.Thr4651Ser)
c.7166C>G (p.Thr2389Ser)
c.7145C>G (p.Thr2382Ser)
n.14043C>G
 gnomAD v4
5g.90789835C>TCA360399126ADGRV1c.14027C>T (p.Thr4676Ile)
c.2981C>T (p.Thr994Ile)
n.1294C>T
c.656C>T (p.Thr219Ile)
c.265+113626C>T (n.265+113626C>T)
c.437C>T (p.Thr146Ile)
c.1010C>T (p.Thr337Ile)
n.14040C>T
c.14024C>T (p.Thr4675Ile)
c.13946C>T (p.Thr4649Ile)
c.11330C>T (p.Thr3777Ile)
c.14048C>T (p.Thr4683Ile)
c.14045C>T (p.Thr4682Ile)
c.13967C>T (p.Thr4656Ile)
c.13952C>T (p.Thr4651Ile)
c.7166C>T (p.Thr2389Ile)
c.7145C>T (p.Thr2382Ile)
n.14043C>T
 ClinVar gnomAD v4
5g.90789836C>ACA445415949ADGRV1c.14028C>A (p.Thr4676=)
c.2982C>A (p.Thr994=)
n.1295C>A
c.657C>A (p.Thr219=)
c.265+113627C>A (n.265+113627C>A)
c.438C>A (p.Thr146=)
c.1011C>A (p.Thr337=)
n.14041C>A
c.14025C>A (p.Thr4675=)
c.13947C>A (p.Thr4649=)
c.11331C>A (p.Thr3777=)
c.14049C>A (p.Thr4683=)
c.14046C>A (p.Thr4682=)
c.13968C>A (p.Thr4656=)
c.13953C>A (p.Thr4651=)
c.7167C>A (p.Thr2389=)
c.7146C>A (p.Thr2382=)
n.14044C>A
 gnomAD v4
5g.90789836C=CA1562901706ADGRV1c.14028C= (p.Thr4676=)
c.2982C= (p.Thr994=)
n.1295C=
c.657C= (p.Thr219=)
c.265+113627C= (n.265+113627C=)
c.438C= (p.Thr146=)
c.1011C= (p.Thr337=)
n.14041C=
c.14025C= (p.Thr4675=)
c.13947C= (p.Thr4649=)
c.11331C= (p.Thr3777=)
c.14049C= (p.Thr4683=)
c.14046C= (p.Thr4682=)
c.13968C= (p.Thr4656=)
c.13953C= (p.Thr4651=)
c.7167C= (p.Thr2389=)
c.7146C= (p.Thr2382=)
n.14044C=
5g.90789836C>GCA122810885ADGRV1c.14028C>G (p.Thr4676=)
c.2982C>G (p.Thr994=)
n.1295C>G
c.657C>G (p.Thr219=)
c.265+113627C>G (n.265+113627C>G)
c.438C>G (p.Thr146=)
c.1011C>G (p.Thr337=)
n.14041C>G
c.14025C>G (p.Thr4675=)
c.13947C>G (p.Thr4649=)
c.11331C>G (p.Thr3777=)
c.14049C>G (p.Thr4683=)
c.14046C>G (p.Thr4682=)
c.13968C>G (p.Thr4656=)
c.13953C>G (p.Thr4651=)
c.7167C>G (p.Thr2389=)
c.7146C>G (p.Thr2382=)
n.14044C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90789836C>TCA445415951ADGRV1c.14028C>T (p.Thr4676=)
c.2982C>T (p.Thr994=)
n.1295C>T
c.657C>T (p.Thr219=)
c.265+113627C>T (n.265+113627C>T)
c.438C>T (p.Thr146=)
c.1011C>T (p.Thr337=)
n.14041C>T
c.14025C>T (p.Thr4675=)
c.13947C>T (p.Thr4649=)
c.11331C>T (p.Thr3777=)
c.14049C>T (p.Thr4683=)
c.14046C>T (p.Thr4682=)
c.13968C>T (p.Thr4656=)
c.13953C>T (p.Thr4651=)
c.7167C>T (p.Thr2389=)
c.7146C>T (p.Thr2382=)
n.14044C>T
5g.90789837T>ACA360399128ADGRV1c.14029T>A (p.Phe4677Ile)
c.2983T>A (p.Phe995Ile)
n.1296T>A
c.658T>A (p.Phe220Ile)
c.265+113628T>A (n.265+113628T>A)
c.439T>A (p.Phe147Ile)
c.1012T>A (p.Phe338Ile)
n.14042T>A
c.14026T>A (p.Phe4676Ile)
c.13948T>A (p.Phe4650Ile)
c.11332T>A (p.Phe3778Ile)
c.14050T>A (p.Phe4684Ile)
c.14047T>A (p.Phe4683Ile)
c.13969T>A (p.Phe4657Ile)
c.13954T>A (p.Phe4652Ile)
c.7168T>A (p.Phe2390Ile)
c.7147T>A (p.Phe2383Ile)
n.14045T>A
 gnomAD v4
5g.90789837T>CCA138028ADGRV1c.14029T>C (p.Phe4677Leu)
c.2983T>C (p.Phe995Leu)
n.1296T>C
c.658T>C (p.Phe220Leu)
c.265+113628T>C (n.265+113628T>C)
c.439T>C (p.Phe147Leu)
c.1012T>C (p.Phe338Leu)
n.14042T>C
c.14026T>C (p.Phe4676Leu)
c.13948T>C (p.Phe4650Leu)
c.11332T>C (p.Phe3778Leu)
c.14050T>C (p.Phe4684Leu)
c.14047T>C (p.Phe4683Leu)
c.13969T>C (p.Phe4657Leu)
c.13954T>C (p.Phe4652Leu)
c.7168T>C (p.Phe2390Leu)
c.7147T>C (p.Phe2383Leu)
n.14045T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90789837T>GCA360399131ADGRV1c.14029T>G (p.Phe4677Val)
c.2983T>G (p.Phe995Val)
n.1296T>G
c.658T>G (p.Phe220Val)
c.265+113628T>G (n.265+113628T>G)
c.439T>G (p.Phe147Val)
c.1012T>G (p.Phe338Val)
n.14042T>G
c.14026T>G (p.Phe4676Val)
c.13948T>G (p.Phe4650Val)
c.11332T>G (p.Phe3778Val)
c.14050T>G (p.Phe4684Val)
c.14047T>G (p.Phe4683Val)
c.13969T>G (p.Phe4657Val)
c.13954T>G (p.Phe4652Val)
c.7168T>G (p.Phe2390Val)
c.7147T>G (p.Phe2383Val)
n.14045T>G
5g.90789837T=CA1562901707ADGRV1c.14029T= (p.Phe4677=)
c.2983T= (p.Phe995=)
n.1296T=
c.658T= (p.Phe220=)
c.265+113628T= (n.265+113628T=)
c.439T= (p.Phe147=)
c.1012T= (p.Phe338=)
n.14042T=
c.14026T= (p.Phe4676=)
c.13948T= (p.Phe4650=)
c.11332T= (p.Phe3778=)
c.14050T= (p.Phe4684=)
c.14047T= (p.Phe4683=)
c.13969T= (p.Phe4657=)
c.13954T= (p.Phe4652=)
c.7168T= (p.Phe2390=)
c.7147T= (p.Phe2383=)
n.14045T=
5g.90789839delCA2674571739ADGRV1c.14031del (p.Phe4677LeufsTer10)
c.2985del (p.Phe995LeufsTer10)
n.1298del
c.660del (p.Phe220LeufsTer10)
c.265+113630del (n.265+113630del)
c.441del (p.Phe147LeufsTer10)
c.1014del (p.Phe338LeufsTer10)
n.14044del
c.14028del (p.Phe4676LeufsTer10)
c.13950del (p.Phe4650LeufsTer10)
c.11334del (p.Phe3778LeufsTer10)
c.14052del (p.Phe4684LeufsTer10)
c.14049del (p.Phe4683LeufsTer10)
c.13971del (p.Phe4657LeufsTer10)
c.13956del (p.Phe4652LeufsTer10)
c.7170del (p.Phe2390LeufsTer10)
c.7149del (p.Phe2383LeufsTer10)
n.14047del
 gnomAD v4

Number of alleles fetched