Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90763353A>CCA360377512ADGRV1c.12169A>C (p.Thr4057Pro)
c.1123A>C (p.Thr375Pro)
c.265+87144A>C (n.265+87144A>C)
n.2588A>C
n.746A>C
n.12182A>C
c.12166A>C (p.Thr4056Pro)
c.12088A>C (p.Thr4030Pro)
c.9472A>C (p.Thr3158Pro)
c.12190A>C (p.Thr4064Pro)
c.12187A>C (p.Thr4063Pro)
c.12109A>C (p.Thr4037Pro)
c.12094A>C (p.Thr4032Pro)
c.5308A>C (p.Thr1770Pro)
c.5287A>C (p.Thr1763Pro)
n.12185A>C
5g.90763353A>GCA360377509ADGRV1c.12169A>G (p.Thr4057Ala)
c.1123A>G (p.Thr375Ala)
c.265+87144A>G (n.265+87144A>G)
n.2588A>G
n.746A>G
n.12182A>G
c.12166A>G (p.Thr4056Ala)
c.12088A>G (p.Thr4030Ala)
c.9472A>G (p.Thr3158Ala)
c.12190A>G (p.Thr4064Ala)
c.12187A>G (p.Thr4063Ala)
c.12109A>G (p.Thr4037Ala)
c.12094A>G (p.Thr4032Ala)
c.5308A>G (p.Thr1770Ala)
c.5287A>G (p.Thr1763Ala)
n.12185A>G
 gnomAD v4
5g.90763353A>TCA360377510ADGRV1c.12169A>T (p.Thr4057Ser)
c.1123A>T (p.Thr375Ser)
c.265+87144A>T (n.265+87144A>T)
n.2588A>T
n.746A>T
n.12182A>T
c.12166A>T (p.Thr4056Ser)
c.12088A>T (p.Thr4030Ser)
c.9472A>T (p.Thr3158Ser)
c.12190A>T (p.Thr4064Ser)
c.12187A>T (p.Thr4063Ser)
c.12109A>T (p.Thr4037Ser)
c.12094A>T (p.Thr4032Ser)
c.5308A>T (p.Thr1770Ser)
c.5287A>T (p.Thr1763Ser)
n.12185A>T
5g.90763354C>ACA360377523ADGRV1c.12170C>A (p.Thr4057Lys)
c.1124C>A (p.Thr375Lys)
c.265+87145C>A (n.265+87145C>A)
n.2589C>A
n.747C>A
n.12183C>A
c.12167C>A (p.Thr4056Lys)
c.12089C>A (p.Thr4030Lys)
c.9473C>A (p.Thr3158Lys)
c.12191C>A (p.Thr4064Lys)
c.12188C>A (p.Thr4063Lys)
c.12110C>A (p.Thr4037Lys)
c.12095C>A (p.Thr4032Lys)
c.5309C>A (p.Thr1770Lys)
c.5288C>A (p.Thr1763Lys)
n.12186C>A
5g.90763354C=CA1562889880ADGRV1c.12170C= (p.Thr4057=)
c.1124C= (p.Thr375=)
c.265+87145C= (n.265+87145C=)
n.2589C=
n.747C=
n.12183C=
c.12167C= (p.Thr4056=)
c.12089C= (p.Thr4030=)
c.9473C= (p.Thr3158=)
c.12191C= (p.Thr4064=)
c.12188C= (p.Thr4063=)
c.12110C= (p.Thr4037=)
c.12095C= (p.Thr4032=)
c.5309C= (p.Thr1770=)
c.5288C= (p.Thr1763=)
n.12186C=
5g.90763354C>GCA360377525ADGRV1c.12170C>G (p.Thr4057Arg)
c.1124C>G (p.Thr375Arg)
c.265+87145C>G (n.265+87145C>G)
n.2589C>G
n.747C>G
n.12183C>G
c.12167C>G (p.Thr4056Arg)
c.12089C>G (p.Thr4030Arg)
c.9473C>G (p.Thr3158Arg)
c.12191C>G (p.Thr4064Arg)
c.12188C>G (p.Thr4063Arg)
c.12110C>G (p.Thr4037Arg)
c.12095C>G (p.Thr4032Arg)
c.5309C>G (p.Thr1770Arg)
c.5288C>G (p.Thr1763Arg)
n.12186C>G
5g.90763354C>TCA360377530ADGRV1c.12170C>T (p.Thr4057Ile)
c.1124C>T (p.Thr375Ile)
c.265+87145C>T (n.265+87145C>T)
n.2589C>T
n.747C>T
n.12183C>T
c.12167C>T (p.Thr4056Ile)
c.12089C>T (p.Thr4030Ile)
c.9473C>T (p.Thr3158Ile)
c.12191C>T (p.Thr4064Ile)
c.12188C>T (p.Thr4063Ile)
c.12110C>T (p.Thr4037Ile)
c.12095C>T (p.Thr4032Ile)
c.5309C>T (p.Thr1770Ile)
c.5288C>T (p.Thr1763Ile)
n.12186C>T
 ClinVar dbSNP gnomAD v4
5g.90763355A=CA1562889881ADGRV1c.12171A= (p.Thr4057=)
c.1125A= (p.Thr375=)
c.265+87146A= (n.265+87146A=)
n.2590A=
n.748A=
n.12184A=
c.12168A= (p.Thr4056=)
c.12090A= (p.Thr4030=)
c.9474A= (p.Thr3158=)
c.12192A= (p.Thr4064=)
c.12189A= (p.Thr4063=)
c.12111A= (p.Thr4037=)
c.12096A= (p.Thr4032=)
c.5310A= (p.Thr1770=)
c.5289A= (p.Thr1763=)
n.12187A=
5g.90763355A>CCA445406448ADGRV1c.12171A>C (p.Thr4057=)
c.1125A>C (p.Thr375=)
c.265+87146A>C (n.265+87146A>C)
n.2590A>C
n.748A>C
n.12184A>C
c.12168A>C (p.Thr4056=)
c.12090A>C (p.Thr4030=)
c.9474A>C (p.Thr3158=)
c.12192A>C (p.Thr4064=)
c.12189A>C (p.Thr4063=)
c.12111A>C (p.Thr4037=)
c.12096A>C (p.Thr4032=)
c.5310A>C (p.Thr1770=)
c.5289A>C (p.Thr1763=)
n.12187A>C
 gnomAD v4
5g.90763355A>GCA445406449ADGRV1c.12171A>G (p.Thr4057=)
c.1125A>G (p.Thr375=)
c.265+87146A>G (n.265+87146A>G)
n.2590A>G
n.748A>G
n.12184A>G
c.12168A>G (p.Thr4056=)
c.12090A>G (p.Thr4030=)
c.9474A>G (p.Thr3158=)
c.12192A>G (p.Thr4064=)
c.12189A>G (p.Thr4063=)
c.12111A>G (p.Thr4037=)
c.12096A>G (p.Thr4032=)
c.5310A>G (p.Thr1770=)
c.5289A>G (p.Thr1763=)
n.12187A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90763355A>TCA445406451ADGRV1c.12171A>T (p.Thr4057=)
c.1125A>T (p.Thr375=)
c.265+87146A>T (n.265+87146A>T)
n.2590A>T
n.748A>T
n.12184A>T
c.12168A>T (p.Thr4056=)
c.12090A>T (p.Thr4030=)
c.9474A>T (p.Thr3158=)
c.12192A>T (p.Thr4064=)
c.12189A>T (p.Thr4063=)
c.12111A>T (p.Thr4037=)
c.12096A>T (p.Thr4032=)
c.5310A>T (p.Thr1770=)
c.5289A>T (p.Thr1763=)
n.12187A>T
5g.90763356T>ACA360377540ADGRV1c.12172T>A (p.Leu4058Met)
c.1126T>A (p.Leu376Met)
c.265+87147T>A (n.265+87147T>A)
n.2591T>A
n.749T>A
n.12185T>A
c.12169T>A (p.Leu4057Met)
c.12091T>A (p.Leu4031Met)
c.9475T>A (p.Leu3159Met)
c.12193T>A (p.Leu4065Met)
c.12190T>A (p.Leu4064Met)
c.12112T>A (p.Leu4038Met)
c.12097T>A (p.Leu4033Met)
c.5311T>A (p.Leu1771Met)
c.5290T>A (p.Leu1764Met)
n.12188T>A
 dbSNP gnomAD v4
5g.90763356T>CCA445406457ADGRV1c.12172T>C (p.Leu4058=)
c.1126T>C (p.Leu376=)
c.265+87147T>C (n.265+87147T>C)
n.2591T>C
n.749T>C
n.12185T>C
c.12169T>C (p.Leu4057=)
c.12091T>C (p.Leu4031=)
c.9475T>C (p.Leu3159=)
c.12193T>C (p.Leu4065=)
c.12190T>C (p.Leu4064=)
c.12112T>C (p.Leu4038=)
c.12097T>C (p.Leu4033=)
c.5311T>C (p.Leu1771=)
c.5290T>C (p.Leu1764=)
n.12188T>C
5g.90763356T>GCA360377544ADGRV1c.12172T>G (p.Leu4058Val)
c.1126T>G (p.Leu376Val)
c.265+87147T>G (n.265+87147T>G)
n.2591T>G
n.749T>G
n.12185T>G
c.12169T>G (p.Leu4057Val)
c.12091T>G (p.Leu4031Val)
c.9475T>G (p.Leu3159Val)
c.12193T>G (p.Leu4065Val)
c.12190T>G (p.Leu4064Val)
c.12112T>G (p.Leu4038Val)
c.12097T>G (p.Leu4033Val)
c.5311T>G (p.Leu1771Val)
c.5290T>G (p.Leu1764Val)
n.12188T>G
5g.90763356T=CA1562889882ADGRV1c.12172T= (p.Leu4058=)
c.1126T= (p.Leu376=)
c.265+87147T= (n.265+87147T=)
n.2591T=
n.749T=
n.12185T=
c.12169T= (p.Leu4057=)
c.12091T= (p.Leu4031=)
c.9475T= (p.Leu3159=)
c.12193T= (p.Leu4065=)
c.12190T= (p.Leu4064=)
c.12112T= (p.Leu4038=)
c.12097T= (p.Leu4033=)
c.5311T= (p.Leu1771=)
c.5290T= (p.Leu1764=)
n.12188T=
5g.90763357T>ACA360377563ADGRV1c.12173T>A (p.Leu4058Ter)
c.1127T>A (p.Leu376Ter)
c.265+87148T>A (n.265+87148T>A)
n.2592T>A
n.750T>A
n.12186T>A
c.12170T>A (p.Leu4057Ter)
c.12092T>A (p.Leu4031Ter)
c.9476T>A (p.Leu3159Ter)
c.12194T>A (p.Leu4065Ter)
c.12191T>A (p.Leu4064Ter)
c.12113T>A (p.Leu4038Ter)
c.12098T>A (p.Leu4033Ter)
c.5312T>A (p.Leu1771Ter)
c.5291T>A (p.Leu1764Ter)
n.12189T>A
5g.90763357T>CCA360377550ADGRV1c.12173T>C (p.Leu4058Ser)
c.1127T>C (p.Leu376Ser)
c.265+87148T>C (n.265+87148T>C)
n.2592T>C
n.750T>C
n.12186T>C
c.12170T>C (p.Leu4057Ser)
c.12092T>C (p.Leu4031Ser)
c.9476T>C (p.Leu3159Ser)
c.12194T>C (p.Leu4065Ser)
c.12191T>C (p.Leu4064Ser)
c.12113T>C (p.Leu4038Ser)
c.12098T>C (p.Leu4033Ser)
c.5312T>C (p.Leu1771Ser)
c.5291T>C (p.Leu1764Ser)
n.12189T>C
5g.90763357T>GCA360377556ADGRV1c.12173T>G (p.Leu4058Trp)
c.1127T>G (p.Leu376Trp)
c.265+87148T>G (n.265+87148T>G)
n.2592T>G
n.750T>G
n.12186T>G
c.12170T>G (p.Leu4057Trp)
c.12092T>G (p.Leu4031Trp)
c.9476T>G (p.Leu3159Trp)
c.12194T>G (p.Leu4065Trp)
c.12191T>G (p.Leu4064Trp)
c.12113T>G (p.Leu4038Trp)
c.12098T>G (p.Leu4033Trp)
c.5312T>G (p.Leu1771Trp)
c.5291T>G (p.Leu1764Trp)
n.12189T>G
5g.90763358G>ACA3341164ADGRV1c.12174G>A (p.Leu4058=)
c.1128G>A (p.Leu376=)
c.265+87149G>A (n.265+87149G>A)
n.2593G>A
n.751G>A
n.12187G>A
c.12171G>A (p.Leu4057=)
c.12093G>A (p.Leu4031=)
c.9477G>A (p.Leu3159=)
c.12195G>A (p.Leu4065=)
c.12192G>A (p.Leu4064=)
c.12114G>A (p.Leu4038=)
c.12099G>A (p.Leu4033=)
c.5313G>A (p.Leu1771=)
c.5292G>A (p.Leu1764=)
n.12190G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763358G>CCA360377585ADGRV1c.12174G>C (p.Leu4058Phe)
c.1128G>C (p.Leu376Phe)
c.265+87149G>C (n.265+87149G>C)
n.2593G>C
n.751G>C
n.12187G>C
c.12171G>C (p.Leu4057Phe)
c.12093G>C (p.Leu4031Phe)
c.9477G>C (p.Leu3159Phe)
c.12195G>C (p.Leu4065Phe)
c.12192G>C (p.Leu4064Phe)
c.12114G>C (p.Leu4038Phe)
c.12099G>C (p.Leu4033Phe)
c.5313G>C (p.Leu1771Phe)
c.5292G>C (p.Leu1764Phe)
n.12190G>C
5g.90763358G=CA1562889883ADGRV1c.12174G= (p.Leu4058=)
c.1128G= (p.Leu376=)
c.265+87149G= (n.265+87149G=)
n.2593G=
n.751G=
n.12187G=
c.12171G= (p.Leu4057=)
c.12093G= (p.Leu4031=)
c.9477G= (p.Leu3159=)
c.12195G= (p.Leu4065=)
c.12192G= (p.Leu4064=)
c.12114G= (p.Leu4038=)
c.12099G= (p.Leu4033=)
c.5313G= (p.Leu1771=)
c.5292G= (p.Leu1764=)
n.12190G=
5g.90763358G>TCA360377604ADGRV1c.12174G>T (p.Leu4058Phe)
c.1128G>T (p.Leu376Phe)
c.265+87149G>T (n.265+87149G>T)
n.2593G>T
n.751G>T
n.12187G>T
c.12171G>T (p.Leu4057Phe)
c.12093G>T (p.Leu4031Phe)
c.9477G>T (p.Leu3159Phe)
c.12195G>T (p.Leu4065Phe)
c.12192G>T (p.Leu4064Phe)
c.12114G>T (p.Leu4038Phe)
c.12099G>T (p.Leu4033Phe)
c.5313G>T (p.Leu1771Phe)
c.5292G>T (p.Leu1764Phe)
n.12190G>T
 COSMIC
5g.90763359A=CA1562889884ADGRV1c.12175A= (p.Thr4059=)
c.1129A= (p.Thr377=)
c.265+87150A= (n.265+87150A=)
n.2594A=
n.752A=
n.12188A=
c.12172A= (p.Thr4058=)
c.12094A= (p.Thr4032=)
c.9478A= (p.Thr3160=)
c.12196A= (p.Thr4066=)
c.12193A= (p.Thr4065=)
c.12115A= (p.Thr4039=)
c.12100A= (p.Thr4034=)
c.5314A= (p.Thr1772=)
c.5293A= (p.Thr1765=)
n.12191A=
5g.90763359A>CCA360377616ADGRV1c.12175A>C (p.Thr4059Pro)
c.1129A>C (p.Thr377Pro)
c.265+87150A>C (n.265+87150A>C)
n.2594A>C
n.752A>C
n.12188A>C
c.12172A>C (p.Thr4058Pro)
c.12094A>C (p.Thr4032Pro)
c.9478A>C (p.Thr3160Pro)
c.12196A>C (p.Thr4066Pro)
c.12193A>C (p.Thr4065Pro)
c.12115A>C (p.Thr4039Pro)
c.12100A>C (p.Thr4034Pro)
c.5314A>C (p.Thr1772Pro)
c.5293A>C (p.Thr1765Pro)
n.12191A>C
5g.90763359A>GCA122800381ADGRV1c.12175A>G (p.Thr4059Ala)
c.1129A>G (p.Thr377Ala)
c.265+87150A>G (n.265+87150A>G)
n.2594A>G
n.752A>G
n.12188A>G
c.12172A>G (p.Thr4058Ala)
c.12094A>G (p.Thr4032Ala)
c.9478A>G (p.Thr3160Ala)
c.12196A>G (p.Thr4066Ala)
c.12193A>G (p.Thr4065Ala)
c.12115A>G (p.Thr4039Ala)
c.12100A>G (p.Thr4034Ala)
c.5314A>G (p.Thr1772Ala)
c.5293A>G (p.Thr1765Ala)
n.12191A>G
 dbSNP
5g.90763359A>TCA360377617ADGRV1c.12175A>T (p.Thr4059Ser)
c.1129A>T (p.Thr377Ser)
c.265+87150A>T (n.265+87150A>T)
n.2594A>T
n.752A>T
n.12188A>T
c.12172A>T (p.Thr4058Ser)
c.12094A>T (p.Thr4032Ser)
c.9478A>T (p.Thr3160Ser)
c.12196A>T (p.Thr4066Ser)
c.12193A>T (p.Thr4065Ser)
c.12115A>T (p.Thr4039Ser)
c.12100A>T (p.Thr4034Ser)
c.5314A>T (p.Thr1772Ser)
c.5293A>T (p.Thr1765Ser)
n.12191A>T
5g.90763360C>ACA360377622ADGRV1c.12176C>A (p.Thr4059Lys)
c.1130C>A (p.Thr377Lys)
c.265+87151C>A (n.265+87151C>A)
n.2595C>A
n.753C>A
n.12189C>A
c.12173C>A (p.Thr4058Lys)
c.12095C>A (p.Thr4032Lys)
c.9479C>A (p.Thr3160Lys)
c.12197C>A (p.Thr4066Lys)
c.12194C>A (p.Thr4065Lys)
c.12116C>A (p.Thr4039Lys)
c.12101C>A (p.Thr4034Lys)
c.5315C>A (p.Thr1772Lys)
c.5294C>A (p.Thr1765Lys)
n.12192C>A
5g.90763360C=CA1562889885ADGRV1c.12176C= (p.Thr4059=)
c.1130C= (p.Thr377=)
c.265+87151C= (n.265+87151C=)
n.2595C=
n.753C=
n.12189C=
c.12173C= (p.Thr4058=)
c.12095C= (p.Thr4032=)
c.9479C= (p.Thr3160=)
c.12197C= (p.Thr4066=)
c.12194C= (p.Thr4065=)
c.12116C= (p.Thr4039=)
c.12101C= (p.Thr4034=)
c.5315C= (p.Thr1772=)
c.5294C= (p.Thr1765=)
n.12192C=
5g.90763360C>GCA360377618ADGRV1c.12176C>G (p.Thr4059Arg)
c.1130C>G (p.Thr377Arg)
c.265+87151C>G (n.265+87151C>G)
n.2595C>G
n.753C>G
n.12189C>G
c.12173C>G (p.Thr4058Arg)
c.12095C>G (p.Thr4032Arg)
c.9479C>G (p.Thr3160Arg)
c.12197C>G (p.Thr4066Arg)
c.12194C>G (p.Thr4065Arg)
c.12116C>G (p.Thr4039Arg)
c.12101C>G (p.Thr4034Arg)
c.5315C>G (p.Thr1772Arg)
c.5294C>G (p.Thr1765Arg)
n.12192C>G
5g.90763360C>TCA3341165ADGRV1c.12176C>T (p.Thr4059Met)
c.1130C>T (p.Thr377Met)
c.265+87151C>T (n.265+87151C>T)
n.2595C>T
n.753C>T
n.12189C>T
c.12173C>T (p.Thr4058Met)
c.12095C>T (p.Thr4032Met)
c.9479C>T (p.Thr3160Met)
c.12197C>T (p.Thr4066Met)
c.12194C>T (p.Thr4065Met)
c.12116C>T (p.Thr4039Met)
c.12101C>T (p.Thr4034Met)
c.5315C>T (p.Thr1772Met)
c.5294C>T (p.Thr1765Met)
n.12192C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763361G>ACA445406473ADGRV1c.12177G>A (p.Thr4059=)
c.1131G>A (p.Thr377=)
c.265+87152G>A (n.265+87152G>A)
n.2596G>A
n.754G>A
n.12190G>A
c.12174G>A (p.Thr4058=)
c.12096G>A (p.Thr4032=)
c.9480G>A (p.Thr3160=)
c.12198G>A (p.Thr4066=)
c.12195G>A (p.Thr4065=)
c.12117G>A (p.Thr4039=)
c.12102G>A (p.Thr4034=)
c.5316G>A (p.Thr1772=)
c.5295G>A (p.Thr1765=)
n.12193G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90763361G>CCA445406474ADGRV1c.12177G>C (p.Thr4059=)
c.1131G>C (p.Thr377=)
c.265+87152G>C (n.265+87152G>C)
n.2596G>C
n.754G>C
n.12190G>C
c.12174G>C (p.Thr4058=)
c.12096G>C (p.Thr4032=)
c.9480G>C (p.Thr3160=)
c.12198G>C (p.Thr4066=)
c.12195G>C (p.Thr4065=)
c.12117G>C (p.Thr4039=)
c.12102G>C (p.Thr4034=)
c.5316G>C (p.Thr1772=)
c.5295G>C (p.Thr1765=)
n.12193G>C
5g.90763361G=CA1562889886ADGRV1c.12177G= (p.Thr4059=)
c.1131G= (p.Thr377=)
c.265+87152G= (n.265+87152G=)
n.2596G=
n.754G=
n.12190G=
c.12174G= (p.Thr4058=)
c.12096G= (p.Thr4032=)
c.9480G= (p.Thr3160=)
c.12198G= (p.Thr4066=)
c.12195G= (p.Thr4065=)
c.12117G= (p.Thr4039=)
c.12102G= (p.Thr4034=)
c.5316G= (p.Thr1772=)
c.5295G= (p.Thr1765=)
n.12193G=
5g.90763361G>TCA445406475ADGRV1c.12177G>T (p.Thr4059=)
c.1131G>T (p.Thr377=)
c.265+87152G>T (n.265+87152G>T)
n.2596G>T
n.754G>T
n.12190G>T
c.12174G>T (p.Thr4058=)
c.12096G>T (p.Thr4032=)
c.9480G>T (p.Thr3160=)
c.12198G>T (p.Thr4066=)
c.12195G>T (p.Thr4065=)
c.12117G>T (p.Thr4039=)
c.12102G>T (p.Thr4034=)
c.5316G>T (p.Thr1772=)
c.5295G>T (p.Thr1765=)
n.12193G>T
 COSMIC
5g.90763361_90763365delCA2695204643ADGRV1c.12177_12181del (p.Val4060ProfsTer12)
c.1131_1135del (p.Val378ProfsTer12)
c.265+87152_265+87156del (n.265+87152_265+87156del)
n.2596_2600del
n.754_758del
n.12190_12194del
c.12174_12178del (p.Val4059ProfsTer12)
c.12096_12100del (p.Val4033ProfsTer12)
c.9480_9484del (p.Val3161ProfsTer12)
c.12198_12202del (p.Val4067ProfsTer12)
c.12195_12199del (p.Val4066ProfsTer12)
c.12117_12121del (p.Val4040ProfsTer12)
c.12102_12106del (p.Val4035ProfsTer12)
c.5316_5320del (p.Val1773ProfsTer12)
c.5295_5299del (p.Val1766ProfsTer12)
n.12193_12197del
5g.90763362G>ACA360377630ADGRV1c.12178G>A (p.Val4060Ile)
c.1132G>A (p.Val378Ile)
c.265+87153G>A (n.265+87153G>A)
n.2597G>A
n.755G>A
n.12191G>A
c.12175G>A (p.Val4059Ile)
c.12097G>A (p.Val4033Ile)
c.9481G>A (p.Val3161Ile)
c.12199G>A (p.Val4067Ile)
c.12196G>A (p.Val4066Ile)
c.12118G>A (p.Val4040Ile)
c.12103G>A (p.Val4035Ile)
c.5317G>A (p.Val1773Ile)
c.5296G>A (p.Val1766Ile)
n.12194G>A
5g.90763362G>CCA360377644ADGRV1c.12178G>C (p.Val4060Leu)
c.1132G>C (p.Val378Leu)
c.265+87153G>C (n.265+87153G>C)
n.2597G>C
n.755G>C
n.12191G>C
c.12175G>C (p.Val4059Leu)
c.12097G>C (p.Val4033Leu)
c.9481G>C (p.Val3161Leu)
c.12199G>C (p.Val4067Leu)
c.12196G>C (p.Val4066Leu)
c.12118G>C (p.Val4040Leu)
c.12103G>C (p.Val4035Leu)
c.5317G>C (p.Val1773Leu)
c.5296G>C (p.Val1766Leu)
n.12194G>C
5g.90763362G>TCA360377647ADGRV1c.12178G>T (p.Val4060Phe)
c.1132G>T (p.Val378Phe)
c.265+87153G>T (n.265+87153G>T)
n.2597G>T
n.755G>T
n.12191G>T
c.12175G>T (p.Val4059Phe)
c.12097G>T (p.Val4033Phe)
c.9481G>T (p.Val3161Phe)
c.12199G>T (p.Val4067Phe)
c.12196G>T (p.Val4066Phe)
c.12118G>T (p.Val4040Phe)
c.12103G>T (p.Val4035Phe)
c.5317G>T (p.Val1773Phe)
c.5296G>T (p.Val1766Phe)
n.12194G>T
5g.90763363T>ACA360377657ADGRV1c.12179T>A (p.Val4060Asp)
c.1133T>A (p.Val378Asp)
c.265+87154T>A (n.265+87154T>A)
n.2598T>A
n.756T>A
n.12192T>A
c.12176T>A (p.Val4059Asp)
c.12098T>A (p.Val4033Asp)
c.9482T>A (p.Val3161Asp)
c.12200T>A (p.Val4067Asp)
c.12197T>A (p.Val4066Asp)
c.12119T>A (p.Val4040Asp)
c.12104T>A (p.Val4035Asp)
c.5318T>A (p.Val1773Asp)
c.5297T>A (p.Val1766Asp)
n.12195T>A
5g.90763363T>CCA360377664ADGRV1c.12179T>C (p.Val4060Ala)
c.1133T>C (p.Val378Ala)
c.265+87154T>C (n.265+87154T>C)
n.2598T>C
n.756T>C
n.12192T>C
c.12176T>C (p.Val4059Ala)
c.12098T>C (p.Val4033Ala)
c.9482T>C (p.Val3161Ala)
c.12200T>C (p.Val4067Ala)
c.12197T>C (p.Val4066Ala)
c.12119T>C (p.Val4040Ala)
c.12104T>C (p.Val4035Ala)
c.5318T>C (p.Val1773Ala)
c.5297T>C (p.Val1766Ala)
n.12195T>C
5g.90763363T>GCA360377673ADGRV1c.12179T>G (p.Val4060Gly)
c.1133T>G (p.Val378Gly)
c.265+87154T>G (n.265+87154T>G)
n.2598T>G
n.756T>G
n.12192T>G
c.12176T>G (p.Val4059Gly)
c.12098T>G (p.Val4033Gly)
c.9482T>G (p.Val3161Gly)
c.12200T>G (p.Val4067Gly)
c.12197T>G (p.Val4066Gly)
c.12119T>G (p.Val4040Gly)
c.12104T>G (p.Val4035Gly)
c.5318T>G (p.Val1773Gly)
c.5297T>G (p.Val1766Gly)
n.12195T>G
5g.90763364T>ACA445406501ADGRV1c.12180T>A (p.Val4060=)
c.1134T>A (p.Val378=)
c.265+87155T>A (n.265+87155T>A)
n.2599T>A
n.757T>A
n.12193T>A
c.12177T>A (p.Val4059=)
c.12099T>A (p.Val4033=)
c.9483T>A (p.Val3161=)
c.12201T>A (p.Val4067=)
c.12198T>A (p.Val4066=)
c.12120T>A (p.Val4040=)
c.12105T>A (p.Val4035=)
c.5319T>A (p.Val1773=)
c.5298T>A (p.Val1766=)
n.12196T>A
5g.90763364T>CCA445406505ADGRV1c.12180T>C (p.Val4060=)
c.1134T>C (p.Val378=)
c.265+87155T>C (n.265+87155T>C)
n.2599T>C
n.757T>C
n.12193T>C
c.12177T>C (p.Val4059=)
c.12099T>C (p.Val4033=)
c.9483T>C (p.Val3161=)
c.12201T>C (p.Val4067=)
c.12198T>C (p.Val4066=)
c.12120T>C (p.Val4040=)
c.12105T>C (p.Val4035=)
c.5319T>C (p.Val1773=)
c.5298T>C (p.Val1766=)
n.12196T>C
5g.90763364T>GCA445406498ADGRV1c.12180T>G (p.Val4060=)
c.1134T>G (p.Val378=)
c.265+87155T>G (n.265+87155T>G)
n.2599T>G
n.757T>G
n.12193T>G
c.12177T>G (p.Val4059=)
c.12099T>G (p.Val4033=)
c.9483T>G (p.Val3161=)
c.12201T>G (p.Val4067=)
c.12198T>G (p.Val4066=)
c.12120T>G (p.Val4040=)
c.12105T>G (p.Val4035=)
c.5319T>G (p.Val1773=)
c.5298T>G (p.Val1766=)
n.12196T>G
 gnomAD v4
5g.90763365G>ACA360377683ADGRV1c.12181G>A (p.Val4061Ile)
c.1135G>A (p.Val379Ile)
c.265+87156G>A (n.265+87156G>A)
n.2600G>A
n.758G>A
n.12194G>A
c.12178G>A (p.Val4060Ile)
c.12100G>A (p.Val4034Ile)
c.9484G>A (p.Val3162Ile)
c.12202G>A (p.Val4068Ile)
c.12199G>A (p.Val4067Ile)
c.12121G>A (p.Val4041Ile)
c.12106G>A (p.Val4036Ile)
c.5320G>A (p.Val1774Ile)
c.5299G>A (p.Val1767Ile)
n.12197G>A
 gnomAD v4
5g.90763365G>CCA3341166ADGRV1c.12181G>C (p.Val4061Leu)
c.1135G>C (p.Val379Leu)
c.265+87156G>C (n.265+87156G>C)
n.2600G>C
n.758G>C
n.12194G>C
c.12178G>C (p.Val4060Leu)
c.12100G>C (p.Val4034Leu)
c.9484G>C (p.Val3162Leu)
c.12202G>C (p.Val4068Leu)
c.12199G>C (p.Val4067Leu)
c.12121G>C (p.Val4041Leu)
c.12106G>C (p.Val4036Leu)
c.5320G>C (p.Val1774Leu)
c.5299G>C (p.Val1767Leu)
n.12197G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763365G=CA1562889887ADGRV1c.12181G= (p.Val4061=)
c.1135G= (p.Val379=)
c.265+87156G= (n.265+87156G=)
n.2600G=
n.758G=
n.12194G=
c.12178G= (p.Val4060=)
c.12100G= (p.Val4034=)
c.9484G= (p.Val3162=)
c.12202G= (p.Val4068=)
c.12199G= (p.Val4067=)
c.12121G= (p.Val4041=)
c.12106G= (p.Val4036=)
c.5320G= (p.Val1774=)
c.5299G= (p.Val1767=)
n.12197G=
5g.90763365G>TCA176223ADGRV1c.12181G>T (p.Val4061Phe)
c.1135G>T (p.Val379Phe)
c.265+87156G>T (n.265+87156G>T)
n.2600G>T
n.758G>T
n.12194G>T
c.12178G>T (p.Val4060Phe)
c.12100G>T (p.Val4034Phe)
c.9484G>T (p.Val3162Phe)
c.12202G>T (p.Val4068Phe)
c.12199G>T (p.Val4067Phe)
c.12121G>T (p.Val4041Phe)
c.12106G>T (p.Val4036Phe)
c.5320G>T (p.Val1774Phe)
c.5299G>T (p.Val1767Phe)
n.12197G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763366T>ACA360377691ADGRV1c.12182T>A (p.Val4061Asp)
c.1136T>A (p.Val379Asp)
c.265+87157T>A (n.265+87157T>A)
n.2601T>A
n.759T>A
n.12195T>A
c.12179T>A (p.Val4060Asp)
c.12101T>A (p.Val4034Asp)
c.9485T>A (p.Val3162Asp)
c.12203T>A (p.Val4068Asp)
c.12200T>A (p.Val4067Asp)
c.12122T>A (p.Val4041Asp)
c.12107T>A (p.Val4036Asp)
c.5321T>A (p.Val1774Asp)
c.5300T>A (p.Val1767Asp)
n.12198T>A
5g.90763366T>CCA360377696ADGRV1c.12182T>C (p.Val4061Ala)
c.1136T>C (p.Val379Ala)
c.265+87157T>C (n.265+87157T>C)
n.2601T>C
n.759T>C
n.12195T>C
c.12179T>C (p.Val4060Ala)
c.12101T>C (p.Val4034Ala)
c.9485T>C (p.Val3162Ala)
c.12203T>C (p.Val4068Ala)
c.12200T>C (p.Val4067Ala)
c.12122T>C (p.Val4041Ala)
c.12107T>C (p.Val4036Ala)
c.5321T>C (p.Val1774Ala)
c.5300T>C (p.Val1767Ala)
n.12198T>C
5g.90763366T>GCA360377704ADGRV1c.12182T>G (p.Val4061Gly)
c.1136T>G (p.Val379Gly)
c.265+87157T>G (n.265+87157T>G)
n.2601T>G
n.759T>G
n.12195T>G
c.12179T>G (p.Val4060Gly)
c.12101T>G (p.Val4034Gly)
c.9485T>G (p.Val3162Gly)
c.12203T>G (p.Val4068Gly)
c.12200T>G (p.Val4067Gly)
c.12122T>G (p.Val4041Gly)
c.12107T>G (p.Val4036Gly)
c.5321T>G (p.Val1774Gly)
c.5300T>G (p.Val1767Gly)
n.12198T>G
5g.90763367C>ACA445406530ADGRV1c.12183C>A (p.Val4061=)
c.1137C>A (p.Val379=)
c.265+87158C>A (n.265+87158C>A)
n.2602C>A
n.760C>A
n.12196C>A
c.12180C>A (p.Val4060=)
c.12102C>A (p.Val4034=)
c.9486C>A (p.Val3162=)
c.12204C>A (p.Val4068=)
c.12201C>A (p.Val4067=)
c.12123C>A (p.Val4041=)
c.12108C>A (p.Val4036=)
c.5322C>A (p.Val1774=)
c.5301C>A (p.Val1767=)
n.12199C>A
5g.90763367C>GCA445406534ADGRV1c.12183C>G (p.Val4061=)
c.1137C>G (p.Val379=)
c.265+87158C>G (n.265+87158C>G)
n.2602C>G
n.760C>G
n.12196C>G
c.12180C>G (p.Val4060=)
c.12102C>G (p.Val4034=)
c.9486C>G (p.Val3162=)
c.12204C>G (p.Val4068=)
c.12201C>G (p.Val4067=)
c.12123C>G (p.Val4041=)
c.12108C>G (p.Val4036=)
c.5322C>G (p.Val1774=)
c.5301C>G (p.Val1767=)
n.12199C>G
5g.90763367C>TCA445406531ADGRV1c.12183C>T (p.Val4061=)
c.1137C>T (p.Val379=)
c.265+87158C>T (n.265+87158C>T)
n.2602C>T
n.760C>T
n.12196C>T
c.12180C>T (p.Val4060=)
c.12102C>T (p.Val4034=)
c.9486C>T (p.Val3162=)
c.12204C>T (p.Val4068=)
c.12201C>T (p.Val4067=)
c.12123C>T (p.Val4041=)
c.12108C>T (p.Val4036=)
c.5322C>T (p.Val1774=)
c.5301C>T (p.Val1767=)
n.12199C>T
 ClinVar
5g.90763368C>ACA445406537ADGRV1c.12184C>A (p.Arg4062=)
c.1138C>A (p.Arg380=)
c.265+87159C>A (n.265+87159C>A)
n.2603C>A
n.761C>A
n.12197C>A
c.12181C>A (p.Arg4061=)
c.12103C>A (p.Arg4035=)
c.9487C>A (p.Arg3163=)
c.12205C>A (p.Arg4069=)
c.12202C>A (p.Arg4068=)
c.12124C>A (p.Arg4042=)
c.12109C>A (p.Arg4037=)
c.5323C>A (p.Arg1775=)
c.5302C>A (p.Arg1768=)
n.12200C>A
5g.90763368C=CA1562889888ADGRV1c.12184C= (p.Arg4062=)
c.1138C= (p.Arg380=)
c.265+87159C= (n.265+87159C=)
n.2603C=
n.761C=
n.12197C=
c.12181C= (p.Arg4061=)
c.12103C= (p.Arg4035=)
c.9487C= (p.Arg3163=)
c.12205C= (p.Arg4069=)
c.12202C= (p.Arg4068=)
c.12124C= (p.Arg4042=)
c.12109C= (p.Arg4037=)
c.5323C= (p.Arg1775=)
c.5302C= (p.Arg1768=)
n.12200C=
5g.90763368C>GCA360377711ADGRV1c.12184C>G (p.Arg4062Gly)
c.1138C>G (p.Arg380Gly)
c.265+87159C>G (n.265+87159C>G)
n.2603C>G
n.761C>G
n.12197C>G
c.12181C>G (p.Arg4061Gly)
c.12103C>G (p.Arg4035Gly)
c.9487C>G (p.Arg3163Gly)
c.12205C>G (p.Arg4069Gly)
c.12202C>G (p.Arg4068Gly)
c.12124C>G (p.Arg4042Gly)
c.12109C>G (p.Arg4037Gly)
c.5323C>G (p.Arg1775Gly)
c.5302C>G (p.Arg1768Gly)
n.12200C>G
5g.90763368C>TCA3341167ADGRV1c.12184C>T (p.Arg4062Trp)
c.1138C>T (p.Arg380Trp)
c.265+87159C>T (n.265+87159C>T)
n.2603C>T
n.761C>T
n.12197C>T
c.12181C>T (p.Arg4061Trp)
c.12103C>T (p.Arg4035Trp)
c.9487C>T (p.Arg3163Trp)
c.12205C>T (p.Arg4069Trp)
c.12202C>T (p.Arg4068Trp)
c.12124C>T (p.Arg4042Trp)
c.12109C>T (p.Arg4037Trp)
c.5323C>T (p.Arg1775Trp)
c.5302C>T (p.Arg1768Trp)
n.12200C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763369G>ACA3341168ADGRV1c.12185G>A (p.Arg4062Gln)
c.1139G>A (p.Arg380Gln)
c.265+87160G>A (n.265+87160G>A)
n.2604G>A
n.762G>A
n.12198G>A
c.12182G>A (p.Arg4061Gln)
c.12104G>A (p.Arg4035Gln)
c.9488G>A (p.Arg3163Gln)
c.12206G>A (p.Arg4069Gln)
c.12203G>A (p.Arg4068Gln)
c.12125G>A (p.Arg4042Gln)
c.12110G>A (p.Arg4037Gln)
c.5324G>A (p.Arg1775Gln)
c.5303G>A (p.Arg1768Gln)
n.12201G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763369G>CCA3341169ADGRV1c.12185G>C (p.Arg4062Pro)
c.1139G>C (p.Arg380Pro)
c.265+87160G>C (n.265+87160G>C)
n.2604G>C
n.762G>C
n.12198G>C
c.12182G>C (p.Arg4061Pro)
c.12104G>C (p.Arg4035Pro)
c.9488G>C (p.Arg3163Pro)
c.12206G>C (p.Arg4069Pro)
c.12203G>C (p.Arg4068Pro)
c.12125G>C (p.Arg4042Pro)
c.12110G>C (p.Arg4037Pro)
c.5324G>C (p.Arg1775Pro)
c.5303G>C (p.Arg1768Pro)
n.12201G>C
 dbSNP ExAC gnomAD v2
5g.90763369G=CA1562889889ADGRV1c.12185G= (p.Arg4062=)
c.1139G= (p.Arg380=)
c.265+87160G= (n.265+87160G=)
n.2604G=
n.762G=
n.12198G=
c.12182G= (p.Arg4061=)
c.12104G= (p.Arg4035=)
c.9488G= (p.Arg3163=)
c.12206G= (p.Arg4069=)
c.12203G= (p.Arg4068=)
c.12125G= (p.Arg4042=)
c.12110G= (p.Arg4037=)
c.5324G= (p.Arg1775=)
c.5303G= (p.Arg1768=)
n.12201G=
5g.90763369G>TCA122800386ADGRV1c.12185G>T (p.Arg4062Leu)
c.1139G>T (p.Arg380Leu)
c.265+87160G>T (n.265+87160G>T)
n.2604G>T
n.762G>T
n.12198G>T
c.12182G>T (p.Arg4061Leu)
c.12104G>T (p.Arg4035Leu)
c.9488G>T (p.Arg3163Leu)
c.12206G>T (p.Arg4069Leu)
c.12203G>T (p.Arg4068Leu)
c.12125G>T (p.Arg4042Leu)
c.12110G>T (p.Arg4037Leu)
c.5324G>T (p.Arg1775Leu)
c.5303G>T (p.Arg1768Leu)
n.12201G>T
 dbSNP
5g.90763370G>ACA445406546ADGRV1c.12186G>A (p.Arg4062=)
c.1140G>A (p.Arg380=)
c.265+87161G>A (n.265+87161G>A)
n.2605G>A
n.763G>A
n.12199G>A
c.12183G>A (p.Arg4061=)
c.12105G>A (p.Arg4035=)
c.9489G>A (p.Arg3163=)
c.12207G>A (p.Arg4069=)
c.12204G>A (p.Arg4068=)
c.12126G>A (p.Arg4042=)
c.12111G>A (p.Arg4037=)
c.5325G>A (p.Arg1775=)
c.5304G>A (p.Arg1768=)
n.12202G>A
5g.90763370G>CCA445406547ADGRV1c.12186G>C (p.Arg4062=)
c.1140G>C (p.Arg380=)
c.265+87161G>C (n.265+87161G>C)
n.2605G>C
n.763G>C
n.12199G>C
c.12183G>C (p.Arg4061=)
c.12105G>C (p.Arg4035=)
c.9489G>C (p.Arg3163=)
c.12207G>C (p.Arg4069=)
c.12204G>C (p.Arg4068=)
c.12126G>C (p.Arg4042=)
c.12111G>C (p.Arg4037=)
c.5325G>C (p.Arg1775=)
c.5304G>C (p.Arg1768=)
n.12202G>C
5g.90763370G>TCA445406548ADGRV1c.12186G>T (p.Arg4062=)
c.1140G>T (p.Arg380=)
c.265+87161G>T (n.265+87161G>T)
n.2605G>T
n.763G>T
n.12199G>T
c.12183G>T (p.Arg4061=)
c.12105G>T (p.Arg4035=)
c.9489G>T (p.Arg3163=)
c.12207G>T (p.Arg4069=)
c.12204G>T (p.Arg4068=)
c.12126G>T (p.Arg4042=)
c.12111G>T (p.Arg4037=)
c.5325G>T (p.Arg1775=)
c.5304G>T (p.Arg1768=)
n.12202G>T
5g.90763371T>ACA360377742ADGRV1c.12187T>A (p.Ser4063Thr)
c.1141T>A (p.Ser381Thr)
c.265+87162T>A (n.265+87162T>A)
n.2606T>A
n.764T>A
n.12200T>A
c.12184T>A (p.Ser4062Thr)
c.12106T>A (p.Ser4036Thr)
c.9490T>A (p.Ser3164Thr)
c.12208T>A (p.Ser4070Thr)
c.12205T>A (p.Ser4069Thr)
c.12127T>A (p.Ser4043Thr)
c.12112T>A (p.Ser4038Thr)
c.5326T>A (p.Ser1776Thr)
c.5305T>A (p.Ser1769Thr)
n.12203T>A
5g.90763371T>CCA360377762ADGRV1c.12187T>C (p.Ser4063Pro)
c.1141T>C (p.Ser381Pro)
c.265+87162T>C (n.265+87162T>C)
n.2606T>C
n.764T>C
n.12200T>C
c.12184T>C (p.Ser4062Pro)
c.12106T>C (p.Ser4036Pro)
c.9490T>C (p.Ser3164Pro)
c.12208T>C (p.Ser4070Pro)
c.12205T>C (p.Ser4069Pro)
c.12127T>C (p.Ser4043Pro)
c.12112T>C (p.Ser4038Pro)
c.5326T>C (p.Ser1776Pro)
c.5305T>C (p.Ser1769Pro)
n.12203T>C
5g.90763371T>GCA360377767ADGRV1c.12187T>G (p.Ser4063Ala)
c.1141T>G (p.Ser381Ala)
c.265+87162T>G (n.265+87162T>G)
n.2606T>G
n.764T>G
n.12200T>G
c.12184T>G (p.Ser4062Ala)
c.12106T>G (p.Ser4036Ala)
c.9490T>G (p.Ser3164Ala)
c.12208T>G (p.Ser4070Ala)
c.12205T>G (p.Ser4069Ala)
c.12127T>G (p.Ser4043Ala)
c.12112T>G (p.Ser4038Ala)
c.5326T>G (p.Ser1776Ala)
c.5305T>G (p.Ser1769Ala)
n.12203T>G
5g.90763372C>ACA360377791ADGRV1c.12188C>A (p.Ser4063Tyr)
c.1142C>A (p.Ser381Tyr)
c.265+87163C>A (n.265+87163C>A)
n.2607C>A
n.765C>A
n.12201C>A
c.12185C>A (p.Ser4062Tyr)
c.12107C>A (p.Ser4036Tyr)
c.9491C>A (p.Ser3164Tyr)
c.12209C>A (p.Ser4070Tyr)
c.12206C>A (p.Ser4069Tyr)
c.12128C>A (p.Ser4043Tyr)
c.12113C>A (p.Ser4038Tyr)
c.5327C>A (p.Ser1776Tyr)
c.5306C>A (p.Ser1769Tyr)
n.12204C>A
5g.90763372C>GCA360377770ADGRV1c.12188C>G (p.Ser4063Cys)
c.1142C>G (p.Ser381Cys)
c.265+87163C>G (n.265+87163C>G)
n.2607C>G
n.765C>G
n.12201C>G
c.12185C>G (p.Ser4062Cys)
c.12107C>G (p.Ser4036Cys)
c.9491C>G (p.Ser3164Cys)
c.12209C>G (p.Ser4070Cys)
c.12206C>G (p.Ser4069Cys)
c.12128C>G (p.Ser4043Cys)
c.12113C>G (p.Ser4038Cys)
c.5327C>G (p.Ser1776Cys)
c.5306C>G (p.Ser1769Cys)
n.12204C>G
5g.90763372C>TCA360377772ADGRV1c.12188C>T (p.Ser4063Phe)
c.1142C>T (p.Ser381Phe)
c.265+87163C>T (n.265+87163C>T)
n.2607C>T
n.765C>T
n.12201C>T
c.12185C>T (p.Ser4062Phe)
c.12107C>T (p.Ser4036Phe)
c.9491C>T (p.Ser3164Phe)
c.12209C>T (p.Ser4070Phe)
c.12206C>T (p.Ser4069Phe)
c.12128C>T (p.Ser4043Phe)
c.12113C>T (p.Ser4038Phe)
c.5327C>T (p.Ser1776Phe)
c.5306C>T (p.Ser1769Phe)
n.12204C>T
5g.90763375delCA2578359790ADGRV1c.12191del (p.Pro4064GlnfsTer13)
c.1145del (p.Pro382GlnfsTer13)
c.265+87166del (n.265+87166del)
n.2610del
n.768del
n.12204del
c.12188del (p.Pro4063GlnfsTer13)
c.12110del (p.Pro4037GlnfsTer13)
c.9494del (p.Pro3165GlnfsTer13)
c.12212del (p.Pro4071GlnfsTer13)
c.12209del (p.Pro4070GlnfsTer13)
c.12131del (p.Pro4044GlnfsTer13)
c.12116del (p.Pro4039GlnfsTer13)
c.5330del (p.Pro1777GlnfsTer13)
c.5309del (p.Pro1770GlnfsTer13)
n.12207del
5g.90763373C>ACA445406562ADGRV1c.12189C>A (p.Ser4063=)
c.1143C>A (p.Ser381=)
c.265+87164C>A (n.265+87164C>A)
n.2608C>A
n.766C>A
n.12202C>A
c.12186C>A (p.Ser4062=)
c.12108C>A (p.Ser4036=)
c.9492C>A (p.Ser3164=)
c.12210C>A (p.Ser4070=)
c.12207C>A (p.Ser4069=)
c.12129C>A (p.Ser4043=)
c.12114C>A (p.Ser4038=)
c.5328C>A (p.Ser1776=)
c.5307C>A (p.Ser1769=)
n.12205C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90763373C=CA1562889890ADGRV1c.12189C= (p.Ser4063=)
c.1143C= (p.Ser381=)
c.265+87164C= (n.265+87164C=)
n.2608C=
n.766C=
n.12202C=
c.12186C= (p.Ser4062=)
c.12108C= (p.Ser4036=)
c.9492C= (p.Ser3164=)
c.12210C= (p.Ser4070=)
c.12207C= (p.Ser4069=)
c.12129C= (p.Ser4043=)
c.12114C= (p.Ser4038=)
c.5328C= (p.Ser1776=)
c.5307C= (p.Ser1769=)
n.12205C=
5g.90763373C>GCA445406564ADGRV1c.12189C>G (p.Ser4063=)
c.1143C>G (p.Ser381=)
c.265+87164C>G (n.265+87164C>G)
n.2608C>G
n.766C>G
n.12202C>G
c.12186C>G (p.Ser4062=)
c.12108C>G (p.Ser4036=)
c.9492C>G (p.Ser3164=)
c.12210C>G (p.Ser4070=)
c.12207C>G (p.Ser4069=)
c.12129C>G (p.Ser4043=)
c.12114C>G (p.Ser4038=)
c.5328C>G (p.Ser1776=)
c.5307C>G (p.Ser1769=)
n.12205C>G
5g.90763373C>TCA445406566ADGRV1c.12189C>T (p.Ser4063=)
c.1143C>T (p.Ser381=)
c.265+87164C>T (n.265+87164C>T)
n.2608C>T
n.766C>T
n.12202C>T
c.12186C>T (p.Ser4062=)
c.12108C>T (p.Ser4036=)
c.9492C>T (p.Ser3164=)
c.12210C>T (p.Ser4070=)
c.12207C>T (p.Ser4069=)
c.12129C>T (p.Ser4043=)
c.12114C>T (p.Ser4038=)
c.5328C>T (p.Ser1776=)
c.5307C>T (p.Ser1769=)
n.12205C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90763374C>ACA360377795ADGRV1c.12190C>A (p.Pro4064Thr)
c.1144C>A (p.Pro382Thr)
c.265+87165C>A (n.265+87165C>A)
n.2609C>A
n.767C>A
n.12203C>A
c.12187C>A (p.Pro4063Thr)
c.12109C>A (p.Pro4037Thr)
c.9493C>A (p.Pro3165Thr)
c.12211C>A (p.Pro4071Thr)
c.12208C>A (p.Pro4070Thr)
c.12130C>A (p.Pro4044Thr)
c.12115C>A (p.Pro4039Thr)
c.5329C>A (p.Pro1777Thr)
c.5308C>A (p.Pro1770Thr)
n.12206C>A
5g.90763374C=CA1562889891ADGRV1c.12190C= (p.Pro4064=)
c.1144C= (p.Pro382=)
c.265+87165C= (n.265+87165C=)
n.2609C=
n.767C=
n.12203C=
c.12187C= (p.Pro4063=)
c.12109C= (p.Pro4037=)
c.9493C= (p.Pro3165=)
c.12211C= (p.Pro4071=)
c.12208C= (p.Pro4070=)
c.12130C= (p.Pro4044=)
c.12115C= (p.Pro4039=)
c.5329C= (p.Pro1777=)
c.5308C= (p.Pro1770=)
n.12206C=
5g.90763374C>GCA360377799ADGRV1c.12190C>G (p.Pro4064Ala)
c.1144C>G (p.Pro382Ala)
c.265+87165C>G (n.265+87165C>G)
n.2609C>G
n.767C>G
n.12203C>G
c.12187C>G (p.Pro4063Ala)
c.12109C>G (p.Pro4037Ala)
c.9493C>G (p.Pro3165Ala)
c.12211C>G (p.Pro4071Ala)
c.12208C>G (p.Pro4070Ala)
c.12130C>G (p.Pro4044Ala)
c.12115C>G (p.Pro4039Ala)
c.5329C>G (p.Pro1777Ala)
c.5308C>G (p.Pro1770Ala)
n.12206C>G
 ClinVar dbSNP
5g.90763374C>TCA360377804ADGRV1c.12190C>T (p.Pro4064Ser)
c.1144C>T (p.Pro382Ser)
c.265+87165C>T (n.265+87165C>T)
n.2609C>T
n.767C>T
n.12203C>T
c.12187C>T (p.Pro4063Ser)
c.12109C>T (p.Pro4037Ser)
c.9493C>T (p.Pro3165Ser)
c.12211C>T (p.Pro4071Ser)
c.12208C>T (p.Pro4070Ser)
c.12130C>T (p.Pro4044Ser)
c.12115C>T (p.Pro4039Ser)
c.5329C>T (p.Pro1777Ser)
c.5308C>T (p.Pro1770Ser)
n.12206C>T
5g.90763375C>ACA360377811ADGRV1c.12191C>A (p.Pro4064Gln)
c.1145C>A (p.Pro382Gln)
c.265+87166C>A (n.265+87166C>A)
n.2610C>A
n.768C>A
n.12204C>A
c.12188C>A (p.Pro4063Gln)
c.12110C>A (p.Pro4037Gln)
c.9494C>A (p.Pro3165Gln)
c.12212C>A (p.Pro4071Gln)
c.12209C>A (p.Pro4070Gln)
c.12131C>A (p.Pro4044Gln)
c.12116C>A (p.Pro4039Gln)
c.5330C>A (p.Pro1777Gln)
c.5309C>A (p.Pro1770Gln)
n.12207C>A
5g.90763375C=CA1562889892ADGRV1c.12191C= (p.Pro4064=)
c.1145C= (p.Pro382=)
c.265+87166C= (n.265+87166C=)
n.2610C=
n.768C=
n.12204C=
c.12188C= (p.Pro4063=)
c.12110C= (p.Pro4037=)
c.9494C= (p.Pro3165=)
c.12212C= (p.Pro4071=)
c.12209C= (p.Pro4070=)
c.12131C= (p.Pro4044=)
c.12116C= (p.Pro4039=)
c.5330C= (p.Pro1777=)
c.5309C= (p.Pro1770=)
n.12207C=
5g.90763375C>GCA360377817ADGRV1c.12191C>G (p.Pro4064Arg)
c.1145C>G (p.Pro382Arg)
c.265+87166C>G (n.265+87166C>G)
n.2610C>G
n.768C>G
n.12204C>G
c.12188C>G (p.Pro4063Arg)
c.12110C>G (p.Pro4037Arg)
c.9494C>G (p.Pro3165Arg)
c.12212C>G (p.Pro4071Arg)
c.12209C>G (p.Pro4070Arg)
c.12131C>G (p.Pro4044Arg)
c.12116C>G (p.Pro4039Arg)
c.5330C>G (p.Pro1777Arg)
c.5309C>G (p.Pro1770Arg)
n.12207C>G
5g.90763375C>TCA3341170ADGRV1c.12191C>T (p.Pro4064Leu)
c.1145C>T (p.Pro382Leu)
c.265+87166C>T (n.265+87166C>T)
n.2610C>T
n.768C>T
n.12204C>T
c.12188C>T (p.Pro4063Leu)
c.12110C>T (p.Pro4037Leu)
c.9494C>T (p.Pro3165Leu)
c.12212C>T (p.Pro4071Leu)
c.12209C>T (p.Pro4070Leu)
c.12131C>T (p.Pro4044Leu)
c.12116C>T (p.Pro4039Leu)
c.5330C>T (p.Pro1777Leu)
c.5309C>T (p.Pro1770Leu)
n.12207C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763376A>CCA445406589ADGRV1c.12192A>C (p.Pro4064=)
c.1146A>C (p.Pro382=)
c.265+87167A>C (n.265+87167A>C)
n.2611A>C
n.769A>C
n.12205A>C
c.12189A>C (p.Pro4063=)
c.12111A>C (p.Pro4037=)
c.9495A>C (p.Pro3165=)
c.12213A>C (p.Pro4071=)
c.12210A>C (p.Pro4070=)
c.12132A>C (p.Pro4044=)
c.12117A>C (p.Pro4039=)
c.5331A>C (p.Pro1777=)
c.5310A>C (p.Pro1770=)
n.12208A>C
5g.90763376A>GCA445406587ADGRV1c.12192A>G (p.Pro4064=)
c.1146A>G (p.Pro382=)
c.265+87167A>G (n.265+87167A>G)
n.2611A>G
n.769A>G
n.12205A>G
c.12189A>G (p.Pro4063=)
c.12111A>G (p.Pro4037=)
c.9495A>G (p.Pro3165=)
c.12213A>G (p.Pro4071=)
c.12210A>G (p.Pro4070=)
c.12132A>G (p.Pro4044=)
c.12117A>G (p.Pro4039=)
c.5331A>G (p.Pro1777=)
c.5310A>G (p.Pro1770=)
n.12208A>G
5g.90763376A>TCA445406585ADGRV1c.12192A>T (p.Pro4064=)
c.1146A>T (p.Pro382=)
c.265+87167A>T (n.265+87167A>T)
n.2611A>T
n.769A>T
n.12205A>T
c.12189A>T (p.Pro4063=)
c.12111A>T (p.Pro4037=)
c.9495A>T (p.Pro3165=)
c.12213A>T (p.Pro4071=)
c.12210A>T (p.Pro4070=)
c.12132A>T (p.Pro4044=)
c.12117A>T (p.Pro4039=)
c.5331A>T (p.Pro1777=)
c.5310A>T (p.Pro1770=)
n.12208A>T
5g.90763377G>ACA122800389ADGRV1c.12193G>A (p.Gly4065Arg)
c.1147G>A (p.Gly383Arg)
c.265+87168G>A (n.265+87168G>A)
n.2612G>A
n.770G>A
n.12206G>A
c.12190G>A (p.Gly4064Arg)
c.12112G>A (p.Gly4038Arg)
c.9496G>A (p.Gly3166Arg)
c.12214G>A (p.Gly4072Arg)
c.12211G>A (p.Gly4071Arg)
c.12133G>A (p.Gly4045Arg)
c.12118G>A (p.Gly4040Arg)
c.5332G>A (p.Gly1778Arg)
c.5311G>A (p.Gly1771Arg)
n.12209G>A
 dbSNP gnomAD v4
5g.90763377G>CCA360377827ADGRV1c.12193G>C (p.Gly4065Arg)
c.1147G>C (p.Gly383Arg)
c.265+87168G>C (n.265+87168G>C)
n.2612G>C
n.770G>C
n.12206G>C
c.12190G>C (p.Gly4064Arg)
c.12112G>C (p.Gly4038Arg)
c.9496G>C (p.Gly3166Arg)
c.12214G>C (p.Gly4072Arg)
c.12211G>C (p.Gly4071Arg)
c.12133G>C (p.Gly4045Arg)
c.12118G>C (p.Gly4040Arg)
c.5332G>C (p.Gly1778Arg)
c.5311G>C (p.Gly1771Arg)
n.12209G>C
5g.90763377G=CA1562889893ADGRV1c.12193G= (p.Gly4065=)
c.1147G= (p.Gly383=)
c.265+87168G= (n.265+87168G=)
n.2612G=
n.770G=
n.12206G=
c.12190G= (p.Gly4064=)
c.12112G= (p.Gly4038=)
c.9496G= (p.Gly3166=)
c.12214G= (p.Gly4072=)
c.12211G= (p.Gly4071=)
c.12133G= (p.Gly4045=)
c.12118G= (p.Gly4040=)
c.5332G= (p.Gly1778=)
c.5311G= (p.Gly1771=)
n.12209G=
5g.90763377G>TCA360377830ADGRV1c.12193G>T (p.Gly4065Ter)
c.1147G>T (p.Gly383Ter)
c.265+87168G>T (n.265+87168G>T)
n.2612G>T
n.770G>T
n.12206G>T
c.12190G>T (p.Gly4064Ter)
c.12112G>T (p.Gly4038Ter)
c.9496G>T (p.Gly3166Ter)
c.12214G>T (p.Gly4072Ter)
c.12211G>T (p.Gly4071Ter)
c.12133G>T (p.Gly4045Ter)
c.12118G>T (p.Gly4040Ter)
c.5332G>T (p.Gly1778Ter)
c.5311G>T (p.Gly1771Ter)
n.12209G>T
5g.90763378G>ACA360377840ADGRV1c.12194G>A (p.Gly4065Glu)
c.1148G>A (p.Gly383Glu)
c.265+87169G>A (n.265+87169G>A)
n.2613G>A
n.771G>A
n.12207G>A
c.12191G>A (p.Gly4064Glu)
c.12113G>A (p.Gly4038Glu)
c.9497G>A (p.Gly3166Glu)
c.12215G>A (p.Gly4072Glu)
c.12212G>A (p.Gly4071Glu)
c.12134G>A (p.Gly4045Glu)
c.12119G>A (p.Gly4040Glu)
c.5333G>A (p.Gly1778Glu)
c.5312G>A (p.Gly1771Glu)
n.12210G>A
5g.90763378G>CCA360377842ADGRV1c.12194G>C (p.Gly4065Ala)
c.1148G>C (p.Gly383Ala)
c.265+87169G>C (n.265+87169G>C)
n.2613G>C
n.771G>C
n.12207G>C
c.12191G>C (p.Gly4064Ala)
c.12113G>C (p.Gly4038Ala)
c.9497G>C (p.Gly3166Ala)
c.12215G>C (p.Gly4072Ala)
c.12212G>C (p.Gly4071Ala)
c.12134G>C (p.Gly4045Ala)
c.12119G>C (p.Gly4040Ala)
c.5333G>C (p.Gly1778Ala)
c.5312G>C (p.Gly1771Ala)
n.12210G>C
5g.90763378G>TCA360377845ADGRV1c.12194G>T (p.Gly4065Val)
c.1148G>T (p.Gly383Val)
c.265+87169G>T (n.265+87169G>T)
n.2613G>T
n.771G>T
n.12207G>T
c.12191G>T (p.Gly4064Val)
c.12113G>T (p.Gly4038Val)
c.9497G>T (p.Gly3166Val)
c.12215G>T (p.Gly4072Val)
c.12212G>T (p.Gly4071Val)
c.12134G>T (p.Gly4045Val)
c.12119G>T (p.Gly4040Val)
c.5333G>T (p.Gly1778Val)
c.5312G>T (p.Gly1771Val)
n.12210G>T
5g.90763379A=CA1562889894ADGRV1c.12195A= (p.Gly4065=)
c.1149A= (p.Gly383=)
c.265+87170A= (n.265+87170A=)
n.2614A=
n.772A=
n.12208A=
c.12192A= (p.Gly4064=)
c.12114A= (p.Gly4038=)
c.9498A= (p.Gly3166=)
c.12216A= (p.Gly4072=)
c.12213A= (p.Gly4071=)
c.12135A= (p.Gly4045=)
c.12120A= (p.Gly4040=)
c.5334A= (p.Gly1778=)
c.5313A= (p.Gly1771=)
n.12211A=
5g.90763379A>CCA445406604ADGRV1c.12195A>C (p.Gly4065=)
c.1149A>C (p.Gly383=)
c.265+87170A>C (n.265+87170A>C)
n.2614A>C
n.772A>C
n.12208A>C
c.12192A>C (p.Gly4064=)
c.12114A>C (p.Gly4038=)
c.9498A>C (p.Gly3166=)
c.12216A>C (p.Gly4072=)
c.12213A>C (p.Gly4071=)
c.12135A>C (p.Gly4045=)
c.12120A>C (p.Gly4040=)
c.5334A>C (p.Gly1778=)
c.5313A>C (p.Gly1771=)
n.12211A>C
5g.90763379A>GCA3341171ADGRV1c.12195A>G (p.Gly4065=)
c.1149A>G (p.Gly383=)
c.265+87170A>G (n.265+87170A>G)
n.2614A>G
n.772A>G
n.12208A>G
c.12192A>G (p.Gly4064=)
c.12114A>G (p.Gly4038=)
c.9498A>G (p.Gly3166=)
c.12216A>G (p.Gly4072=)
c.12213A>G (p.Gly4071=)
c.12135A>G (p.Gly4045=)
c.12120A>G (p.Gly4040=)
c.5334A>G (p.Gly1778=)
c.5313A>G (p.Gly1771=)
n.12211A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763379A>TCA3341172ADGRV1c.12195A>T (p.Gly4065=)
c.1149A>T (p.Gly383=)
c.265+87170A>T (n.265+87170A>T)
n.2614A>T
n.772A>T
n.12208A>T
c.12192A>T (p.Gly4064=)
c.12114A>T (p.Gly4038=)
c.9498A>T (p.Gly3166=)
c.12216A>T (p.Gly4072=)
c.12213A>T (p.Gly4071=)
c.12135A>T (p.Gly4045=)
c.12120A>T (p.Gly4040=)
c.5334A>T (p.Gly1778=)
c.5313A>T (p.Gly1771=)
n.12211A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763380G>ACA3341173ADGRV1c.12196G>A (p.Gly4066Arg)
c.1150G>A (p.Gly384Arg)
c.265+87171G>A (n.265+87171G>A)
n.2615G>A
n.773G>A
n.12209G>A
c.12193G>A (p.Gly4065Arg)
c.12115G>A (p.Gly4039Arg)
c.9499G>A (p.Gly3167Arg)
c.12217G>A (p.Gly4073Arg)
c.12214G>A (p.Gly4072Arg)
c.12136G>A (p.Gly4046Arg)
c.12121G>A (p.Gly4041Arg)
c.5335G>A (p.Gly1779Arg)
c.5314G>A (p.Gly1772Arg)
n.12212G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763380G>CCA360377864ADGRV1c.12196G>C (p.Gly4066Arg)
c.1150G>C (p.Gly384Arg)
c.265+87171G>C (n.265+87171G>C)
n.2615G>C
n.773G>C
n.12209G>C
c.12193G>C (p.Gly4065Arg)
c.12115G>C (p.Gly4039Arg)
c.9499G>C (p.Gly3167Arg)
c.12217G>C (p.Gly4073Arg)
c.12214G>C (p.Gly4072Arg)
c.12136G>C (p.Gly4046Arg)
c.12121G>C (p.Gly4041Arg)
c.5335G>C (p.Gly1779Arg)
c.5314G>C (p.Gly1772Arg)
n.12212G>C
5g.90763380G=CA1562889895ADGRV1c.12196G= (p.Gly4066=)
c.1150G= (p.Gly384=)
c.265+87171G= (n.265+87171G=)
n.2615G=
n.773G=
n.12209G=
c.12193G= (p.Gly4065=)
c.12115G= (p.Gly4039=)
c.9499G= (p.Gly3167=)
c.12217G= (p.Gly4073=)
c.12214G= (p.Gly4072=)
c.12136G= (p.Gly4046=)
c.12121G= (p.Gly4041=)
c.5335G= (p.Gly1779=)
c.5314G= (p.Gly1772=)
n.12212G=
5g.90763380G>TCA360377847ADGRV1c.12196G>T (p.Gly4066Ter)
c.1150G>T (p.Gly384Ter)
c.265+87171G>T (n.265+87171G>T)
n.2615G>T
n.773G>T
n.12209G>T
c.12193G>T (p.Gly4065Ter)
c.12115G>T (p.Gly4039Ter)
c.9499G>T (p.Gly3167Ter)
c.12217G>T (p.Gly4073Ter)
c.12214G>T (p.Gly4072Ter)
c.12136G>T (p.Gly4046Ter)
c.12121G>T (p.Gly4041Ter)
c.5335G>T (p.Gly1779Ter)
c.5314G>T (p.Gly1772Ter)
n.12212G>T
5g.90763380_90763393delinsGGAAAAGGAACCGTCA1562889896ADGRV1c.12196_12209delinsGGAAAAGGAACCGT (p.Gly4066=)
c.1150_1163delinsGGAAAAGGAACCGT (p.Gly384=)
c.265+87171_265+87184delinsGGAAAAGGAACCGT (n.265+87171_265+87184delinsGGAAAAGGAACCGT)
n.2615_2628delinsGGAAAAGGAACCGT
n.773_786delinsGGAAAAGGAACCGT
n.12209_12222delinsGGAAAAGGAACCGT
c.12193_12206delinsGGAAAAGGAACCGT (p.Gly4065=)
c.12115_12128delinsGGAAAAGGAACCGT (p.Gly4039=)
c.9499_9512delinsGGAAAAGGAACCGT (p.Gly3167=)
c.12217_12230delinsGGAAAAGGAACCGT (p.Gly4073=)
c.12214_12227delinsGGAAAAGGAACCGT (p.Gly4072=)
c.12136_12149delinsGGAAAAGGAACCGT (p.Gly4046=)
c.12121_12134delinsGGAAAAGGAACCGT (p.Gly4041=)
c.5335_5348delinsGGAAAAGGAACCGT (p.Gly1779=)
c.5314_5327delinsGGAAAAGGAACCGT (p.Gly1772=)
n.12212_12225delinsGGAAAAGGAACCGT
5g.90763381G>ACA360377870ADGRV1c.12197G>A (p.Gly4066Glu)
c.1151G>A (p.Gly384Glu)
c.265+87172G>A (n.265+87172G>A)
n.2616G>A
n.774G>A
n.12210G>A
c.12194G>A (p.Gly4065Glu)
c.12116G>A (p.Gly4039Glu)
c.9500G>A (p.Gly3167Glu)
c.12218G>A (p.Gly4073Glu)
c.12215G>A (p.Gly4072Glu)
c.12137G>A (p.Gly4046Glu)
c.12122G>A (p.Gly4041Glu)
c.5336G>A (p.Gly1779Glu)
c.5315G>A (p.Gly1772Glu)
n.12213G>A
 COSMIC
5g.90763381G>CCA360377875ADGRV1c.12197G>C (p.Gly4066Ala)
c.1151G>C (p.Gly384Ala)
c.265+87172G>C (n.265+87172G>C)
n.2616G>C
n.774G>C
n.12210G>C
c.12194G>C (p.Gly4065Ala)
c.12116G>C (p.Gly4039Ala)
c.9500G>C (p.Gly3167Ala)
c.12218G>C (p.Gly4073Ala)
c.12215G>C (p.Gly4072Ala)
c.12137G>C (p.Gly4046Ala)
c.12122G>C (p.Gly4041Ala)
c.5336G>C (p.Gly1779Ala)
c.5315G>C (p.Gly1772Ala)
n.12213G>C
5g.90763381G>TCA360377896ADGRV1c.12197G>T (p.Gly4066Val)
c.1151G>T (p.Gly384Val)
c.265+87172G>T (n.265+87172G>T)
n.2616G>T
n.774G>T
n.12210G>T
c.12194G>T (p.Gly4065Val)
c.12116G>T (p.Gly4039Val)
c.9500G>T (p.Gly3167Val)
c.12218G>T (p.Gly4073Val)
c.12215G>T (p.Gly4072Val)
c.12137G>T (p.Gly4046Val)
c.12122G>T (p.Gly4041Val)
c.5336G>T (p.Gly1779Val)
c.5315G>T (p.Gly1772Val)
n.12213G>T
5g.90763381_90763393delinsTGGGACA658796549ADGRV1c.12197_12209delinsTGGGA (p.Gly4066ValfsTer5)
c.1151_1163delinsTGGGA (p.Gly384ValfsTer5)
c.265+87172_265+87184delinsTGGGA (n.265+87172_265+87184delinsTGGGA)
n.2616_2628delinsTGGGA
n.774_786delinsTGGGA
n.12210_12222delinsTGGGA
c.12194_12206delinsTGGGA (p.Gly4065ValfsTer5)
c.12116_12128delinsTGGGA (p.Gly4039ValfsTer5)
c.9500_9512delinsTGGGA (p.Gly3167ValfsTer5)
c.12218_12230delinsTGGGA (p.Gly4073ValfsTer5)
c.12215_12227delinsTGGGA (p.Gly4072ValfsTer5)
c.12137_12149delinsTGGGA (p.Gly4046ValfsTer5)
c.12122_12134delinsTGGGA (p.Gly4041ValfsTer5)
c.5336_5348delinsTGGGA (p.Gly1779ValfsTer5)
c.5315_5327delinsTGGGA (p.Gly1772ValfsTer5)
n.12213_12225delinsTGGGA
 ClinVar dbSNP
5g.90763382A>CCA445406615ADGRV1c.12198A>C (p.Gly4066=)
c.1152A>C (p.Gly384=)
c.265+87173A>C (n.265+87173A>C)
n.2617A>C
n.775A>C
n.12211A>C
c.12195A>C (p.Gly4065=)
c.12117A>C (p.Gly4039=)
c.9501A>C (p.Gly3167=)
c.12219A>C (p.Gly4073=)
c.12216A>C (p.Gly4072=)
c.12138A>C (p.Gly4046=)
c.12123A>C (p.Gly4041=)
c.5337A>C (p.Gly1779=)
c.5316A>C (p.Gly1772=)
n.12214A>C
5g.90763382A>GCA445406624ADGRV1c.12198A>G (p.Gly4066=)
c.1152A>G (p.Gly384=)
c.265+87173A>G (n.265+87173A>G)
n.2617A>G
n.775A>G
n.12211A>G
c.12195A>G (p.Gly4065=)
c.12117A>G (p.Gly4039=)
c.9501A>G (p.Gly3167=)
c.12219A>G (p.Gly4073=)
c.12216A>G (p.Gly4072=)
c.12138A>G (p.Gly4046=)
c.12123A>G (p.Gly4041=)
c.5337A>G (p.Gly1779=)
c.5316A>G (p.Gly1772=)
n.12214A>G
 gnomAD v4
5g.90763382A>TCA445406628ADGRV1c.12198A>T (p.Gly4066=)
c.1152A>T (p.Gly384=)
c.265+87173A>T (n.265+87173A>T)
n.2617A>T
n.775A>T
n.12211A>T
c.12195A>T (p.Gly4065=)
c.12117A>T (p.Gly4039=)
c.9501A>T (p.Gly3167=)
c.12219A>T (p.Gly4073=)
c.12216A>T (p.Gly4072=)
c.12138A>T (p.Gly4046=)
c.12123A>T (p.Gly4041=)
c.5337A>T (p.Gly1779=)
c.5316A>T (p.Gly1772=)
n.12214A>T
5g.90763385delCA2674574480ADGRV1c.12201del (p.Gly4068GlufsTer9)
c.1155del (p.Gly386GlufsTer9)
c.265+87176del (n.265+87176del)
n.2620del
n.778del
n.12214del
c.12198del (p.Gly4067GlufsTer9)
c.12120del (p.Gly4041GlufsTer9)
c.9504del (p.Gly3169GlufsTer9)
c.12222del (p.Gly4075GlufsTer9)
c.12219del (p.Gly4074GlufsTer9)
c.12141del (p.Gly4048GlufsTer9)
c.12126del (p.Gly4043GlufsTer9)
c.5340del (p.Gly1781GlufsTer9)
c.5319del (p.Gly1774GlufsTer9)
n.12217del
 gnomAD v4
5g.90763383A>CCA360377904ADGRV1c.12199A>C (p.Lys4067Gln)
c.1153A>C (p.Lys385Gln)
c.265+87174A>C (n.265+87174A>C)
n.2618A>C
n.776A>C
n.12212A>C
c.12196A>C (p.Lys4066Gln)
c.12118A>C (p.Lys4040Gln)
c.9502A>C (p.Lys3168Gln)
c.12220A>C (p.Lys4074Gln)
c.12217A>C (p.Lys4073Gln)
c.12139A>C (p.Lys4047Gln)
c.12124A>C (p.Lys4042Gln)
c.5338A>C (p.Lys1780Gln)
c.5317A>C (p.Lys1773Gln)
n.12215A>C
5g.90763383A>GCA360377905ADGRV1c.12199A>G (p.Lys4067Glu)
c.1153A>G (p.Lys385Glu)
c.265+87174A>G (n.265+87174A>G)
n.2618A>G
n.776A>G
n.12212A>G
c.12196A>G (p.Lys4066Glu)
c.12118A>G (p.Lys4040Glu)
c.9502A>G (p.Lys3168Glu)
c.12220A>G (p.Lys4074Glu)
c.12217A>G (p.Lys4073Glu)
c.12139A>G (p.Lys4047Glu)
c.12124A>G (p.Lys4042Glu)
c.5338A>G (p.Lys1780Glu)
c.5317A>G (p.Lys1773Glu)
n.12215A>G
5g.90763383A>TCA360377906ADGRV1c.12199A>T (p.Lys4067Ter)
c.1153A>T (p.Lys385Ter)
c.265+87174A>T (n.265+87174A>T)
n.2618A>T
n.776A>T
n.12212A>T
c.12196A>T (p.Lys4066Ter)
c.12118A>T (p.Lys4040Ter)
c.9502A>T (p.Lys3168Ter)
c.12220A>T (p.Lys4074Ter)
c.12217A>T (p.Lys4073Ter)
c.12139A>T (p.Lys4047Ter)
c.12124A>T (p.Lys4042Ter)
c.5338A>T (p.Lys1780Ter)
c.5317A>T (p.Lys1773Ter)
n.12215A>T
5g.90763384A>CCA360377913ADGRV1c.12200A>C (p.Lys4067Thr)
c.1154A>C (p.Lys385Thr)
c.265+87175A>C (n.265+87175A>C)
n.2619A>C
n.777A>C
n.12213A>C
c.12197A>C (p.Lys4066Thr)
c.12119A>C (p.Lys4040Thr)
c.9503A>C (p.Lys3168Thr)
c.12221A>C (p.Lys4074Thr)
c.12218A>C (p.Lys4073Thr)
c.12140A>C (p.Lys4047Thr)
c.12125A>C (p.Lys4042Thr)
c.5339A>C (p.Lys1780Thr)
c.5318A>C (p.Lys1773Thr)
n.12216A>C
5g.90763384A>GCA360377914ADGRV1c.12200A>G (p.Lys4067Arg)
c.1154A>G (p.Lys385Arg)
c.265+87175A>G (n.265+87175A>G)
n.2619A>G
n.777A>G
n.12213A>G
c.12197A>G (p.Lys4066Arg)
c.12119A>G (p.Lys4040Arg)
c.9503A>G (p.Lys3168Arg)
c.12221A>G (p.Lys4074Arg)
c.12218A>G (p.Lys4073Arg)
c.12140A>G (p.Lys4047Arg)
c.12125A>G (p.Lys4042Arg)
c.5339A>G (p.Lys1780Arg)
c.5318A>G (p.Lys1773Arg)
n.12216A>G
5g.90763384A>TCA360377915ADGRV1c.12200A>T (p.Lys4067Ile)
c.1154A>T (p.Lys385Ile)
c.265+87175A>T (n.265+87175A>T)
n.2619A>T
n.777A>T
n.12213A>T
c.12197A>T (p.Lys4066Ile)
c.12119A>T (p.Lys4040Ile)
c.9503A>T (p.Lys3168Ile)
c.12221A>T (p.Lys4074Ile)
c.12218A>T (p.Lys4073Ile)
c.12140A>T (p.Lys4047Ile)
c.12125A>T (p.Lys4042Ile)
c.5339A>T (p.Lys1780Ile)
c.5318A>T (p.Lys1773Ile)
n.12216A>T
5g.90763385A>CCA360377917ADGRV1c.12201A>C (p.Lys4067Asn)
c.1155A>C (p.Lys385Asn)
c.265+87176A>C (n.265+87176A>C)
n.2620A>C
n.778A>C
n.12214A>C
c.12198A>C (p.Lys4066Asn)
c.12120A>C (p.Lys4040Asn)
c.9504A>C (p.Lys3168Asn)
c.12222A>C (p.Lys4074Asn)
c.12219A>C (p.Lys4073Asn)
c.12141A>C (p.Lys4047Asn)
c.12126A>C (p.Lys4042Asn)
c.5340A>C (p.Lys1780Asn)
c.5319A>C (p.Lys1773Asn)
n.12217A>C
 gnomAD v4
5g.90763385A>GCA445406652ADGRV1c.12201A>G (p.Lys4067=)
c.1155A>G (p.Lys385=)
c.265+87176A>G (n.265+87176A>G)
n.2620A>G
n.778A>G
n.12214A>G
c.12198A>G (p.Lys4066=)
c.12120A>G (p.Lys4040=)
c.9504A>G (p.Lys3168=)
c.12222A>G (p.Lys4074=)
c.12219A>G (p.Lys4073=)
c.12141A>G (p.Lys4047=)
c.12126A>G (p.Lys4042=)
c.5340A>G (p.Lys1780=)
c.5319A>G (p.Lys1773=)
n.12217A>G
5g.90763385A>TCA360377919ADGRV1c.12201A>T (p.Lys4067Asn)
c.1155A>T (p.Lys385Asn)
c.265+87176A>T (n.265+87176A>T)
n.2620A>T
n.778A>T
n.12214A>T
c.12198A>T (p.Lys4066Asn)
c.12120A>T (p.Lys4040Asn)
c.9504A>T (p.Lys3168Asn)
c.12222A>T (p.Lys4074Asn)
c.12219A>T (p.Lys4073Asn)
c.12141A>T (p.Lys4047Asn)
c.12126A>T (p.Lys4042Asn)
c.5340A>T (p.Lys1780Asn)
c.5319A>T (p.Lys1773Asn)
n.12217A>T
5g.90763386G>ACA3341174ADGRV1c.12202G>A (p.Gly4068Arg)
c.1156G>A (p.Gly386Arg)
c.265+87177G>A (n.265+87177G>A)
n.2621G>A
n.779G>A
n.12215G>A
c.12199G>A (p.Gly4067Arg)
c.12121G>A (p.Gly4041Arg)
c.9505G>A (p.Gly3169Arg)
c.12223G>A (p.Gly4075Arg)
c.12220G>A (p.Gly4074Arg)
c.12142G>A (p.Gly4048Arg)
c.12127G>A (p.Gly4043Arg)
c.5341G>A (p.Gly1781Arg)
c.5320G>A (p.Gly1774Arg)
n.12218G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763386G>CCA360377924ADGRV1c.12202G>C (p.Gly4068Arg)
c.1156G>C (p.Gly386Arg)
c.265+87177G>C (n.265+87177G>C)
n.2621G>C
n.779G>C
n.12215G>C
c.12199G>C (p.Gly4067Arg)
c.12121G>C (p.Gly4041Arg)
c.9505G>C (p.Gly3169Arg)
c.12223G>C (p.Gly4075Arg)
c.12220G>C (p.Gly4074Arg)
c.12142G>C (p.Gly4048Arg)
c.12127G>C (p.Gly4043Arg)
c.5341G>C (p.Gly1781Arg)
c.5320G>C (p.Gly1774Arg)
n.12218G>C
 dbSNP gnomAD v2 gnomAD v4
5g.90763386G=CA1562889897ADGRV1c.12202G= (p.Gly4068=)
c.1156G= (p.Gly386=)
c.265+87177G= (n.265+87177G=)
n.2621G=
n.779G=
n.12215G=
c.12199G= (p.Gly4067=)
c.12121G= (p.Gly4041=)
c.9505G= (p.Gly3169=)
c.12223G= (p.Gly4075=)
c.12220G= (p.Gly4074=)
c.12142G= (p.Gly4048=)
c.12127G= (p.Gly4043=)
c.5341G= (p.Gly1781=)
c.5320G= (p.Gly1774=)
n.12218G=
5g.90763386G>TCA360377927ADGRV1c.12202G>T (p.Gly4068Ter)
c.1156G>T (p.Gly386Ter)
c.265+87177G>T (n.265+87177G>T)
n.2621G>T
n.779G>T
n.12215G>T
c.12199G>T (p.Gly4067Ter)
c.12121G>T (p.Gly4041Ter)
c.9505G>T (p.Gly3169Ter)
c.12223G>T (p.Gly4075Ter)
c.12220G>T (p.Gly4074Ter)
c.12142G>T (p.Gly4048Ter)
c.12127G>T (p.Gly4043Ter)
c.5341G>T (p.Gly1781Ter)
c.5320G>T (p.Gly1774Ter)
n.12218G>T
5g.90763387delCA2578359791ADGRV1c.12203del (p.Gly4068GlufsTer9)
c.1157del (p.Gly386GlufsTer9)
c.265+87178del (n.265+87178del)
n.2622del
n.780del
n.12216del
c.12200del (p.Gly4067GlufsTer9)
c.12122del (p.Gly4041GlufsTer9)
c.9506del (p.Gly3169GlufsTer9)
c.12224del (p.Gly4075GlufsTer9)
c.12221del (p.Gly4074GlufsTer9)
c.12143del (p.Gly4048GlufsTer9)
c.12128del (p.Gly4043GlufsTer9)
c.5342del (p.Gly1781GlufsTer9)
c.5321del (p.Gly1774GlufsTer9)
n.12219del
5g.90763387G>ACA360377956ADGRV1c.12203G>A (p.Gly4068Glu)
c.1157G>A (p.Gly386Glu)
c.265+87178G>A (n.265+87178G>A)
n.2622G>A
n.780G>A
n.12216G>A
c.12200G>A (p.Gly4067Glu)
c.12122G>A (p.Gly4041Glu)
c.9506G>A (p.Gly3169Glu)
c.12224G>A (p.Gly4075Glu)
c.12221G>A (p.Gly4074Glu)
c.12143G>A (p.Gly4048Glu)
c.12128G>A (p.Gly4043Glu)
c.5342G>A (p.Gly1781Glu)
c.5321G>A (p.Gly1774Glu)
n.12219G>A
 dbSNP gnomAD v4
5g.90763387G>CCA360377961ADGRV1c.12203G>C (p.Gly4068Ala)
c.1157G>C (p.Gly386Ala)
c.265+87178G>C (n.265+87178G>C)
n.2622G>C
n.780G>C
n.12216G>C
c.12200G>C (p.Gly4067Ala)
c.12122G>C (p.Gly4041Ala)
c.9506G>C (p.Gly3169Ala)
c.12224G>C (p.Gly4075Ala)
c.12221G>C (p.Gly4074Ala)
c.12143G>C (p.Gly4048Ala)
c.12128G>C (p.Gly4043Ala)
c.5342G>C (p.Gly1781Ala)
c.5321G>C (p.Gly1774Ala)
n.12219G>C
5g.90763387G=CA1562889898ADGRV1c.12203G= (p.Gly4068=)
c.1157G= (p.Gly386=)
c.265+87178G= (n.265+87178G=)
n.2622G=
n.780G=
n.12216G=
c.12200G= (p.Gly4067=)
c.12122G= (p.Gly4041=)
c.9506G= (p.Gly3169=)
c.12224G= (p.Gly4075=)
c.12221G= (p.Gly4074=)
c.12143G= (p.Gly4048=)
c.12128G= (p.Gly4043=)
c.5342G= (p.Gly1781=)
c.5321G= (p.Gly1774=)
n.12219G=
5g.90763387G>TCA360377944ADGRV1c.12203G>T (p.Gly4068Val)
c.1157G>T (p.Gly386Val)
c.265+87178G>T (n.265+87178G>T)
n.2622G>T
n.780G>T
n.12216G>T
c.12200G>T (p.Gly4067Val)
c.12122G>T (p.Gly4041Val)
c.9506G>T (p.Gly3169Val)
c.12224G>T (p.Gly4075Val)
c.12221G>T (p.Gly4074Val)
c.12143G>T (p.Gly4048Val)
c.12128G>T (p.Gly4043Val)
c.5342G>T (p.Gly1781Val)
c.5321G>T (p.Gly1774Val)
n.12219G>T
5g.90763388A=CA1562889899ADGRV1c.12204A= (p.Gly4068=)
c.1158A= (p.Gly386=)
c.265+87179A= (n.265+87179A=)
n.2623A=
n.781A=
n.12217A=
c.12201A= (p.Gly4067=)
c.12123A= (p.Gly4041=)
c.9507A= (p.Gly3169=)
c.12225A= (p.Gly4075=)
c.12222A= (p.Gly4074=)
c.12144A= (p.Gly4048=)
c.12129A= (p.Gly4043=)
c.5343A= (p.Gly1781=)
c.5322A= (p.Gly1774=)
n.12220A=
5g.90763388A>CCA445406666ADGRV1c.12204A>C (p.Gly4068=)
c.1158A>C (p.Gly386=)
c.265+87179A>C (n.265+87179A>C)
n.2623A>C
n.781A>C
n.12217A>C
c.12201A>C (p.Gly4067=)
c.12123A>C (p.Gly4041=)
c.9507A>C (p.Gly3169=)
c.12225A>C (p.Gly4075=)
c.12222A>C (p.Gly4074=)
c.12144A>C (p.Gly4048=)
c.12129A>C (p.Gly4043=)
c.5343A>C (p.Gly1781=)
c.5322A>C (p.Gly1774=)
n.12220A>C
5g.90763388A>GCA445406673ADGRV1c.12204A>G (p.Gly4068=)
c.1158A>G (p.Gly386=)
c.265+87179A>G (n.265+87179A>G)
n.2623A>G
n.781A>G
n.12217A>G
c.12201A>G (p.Gly4067=)
c.12123A>G (p.Gly4041=)
c.9507A>G (p.Gly3169=)
c.12225A>G (p.Gly4075=)
c.12222A>G (p.Gly4074=)
c.12144A>G (p.Gly4048=)
c.12129A>G (p.Gly4043=)
c.5343A>G (p.Gly1781=)
c.5322A>G (p.Gly1774=)
n.12220A>G
 dbSNP
5g.90763388A>TCA445406680ADGRV1c.12204A>T (p.Gly4068=)
c.1158A>T (p.Gly386=)
c.265+87179A>T (n.265+87179A>T)
n.2623A>T
n.781A>T
n.12217A>T
c.12201A>T (p.Gly4067=)
c.12123A>T (p.Gly4041=)
c.9507A>T (p.Gly3169=)
c.12225A>T (p.Gly4075=)
c.12222A>T (p.Gly4074=)
c.12144A>T (p.Gly4048=)
c.12129A>T (p.Gly4043=)
c.5343A>T (p.Gly1781=)
c.5322A>T (p.Gly1774=)
n.12220A>T
5g.90763389A>CCA360377970ADGRV1c.12205A>C (p.Thr4069Pro)
c.1159A>C (p.Thr387Pro)
c.265+87180A>C (n.265+87180A>C)
n.2624A>C
n.782A>C
n.12218A>C
c.12202A>C (p.Thr4068Pro)
c.12124A>C (p.Thr4042Pro)
c.9508A>C (p.Thr3170Pro)
c.12226A>C (p.Thr4076Pro)
c.12223A>C (p.Thr4075Pro)
c.12145A>C (p.Thr4049Pro)
c.12130A>C (p.Thr4044Pro)
c.5344A>C (p.Thr1782Pro)
c.5323A>C (p.Thr1775Pro)
n.12221A>C
5g.90763389A>GCA360377976ADGRV1c.12205A>G (p.Thr4069Ala)
c.1159A>G (p.Thr387Ala)
c.265+87180A>G (n.265+87180A>G)
n.2624A>G
n.782A>G
n.12218A>G
c.12202A>G (p.Thr4068Ala)
c.12124A>G (p.Thr4042Ala)
c.9508A>G (p.Thr3170Ala)
c.12226A>G (p.Thr4076Ala)
c.12223A>G (p.Thr4075Ala)
c.12145A>G (p.Thr4049Ala)
c.12130A>G (p.Thr4044Ala)
c.5344A>G (p.Thr1782Ala)
c.5323A>G (p.Thr1775Ala)
n.12221A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90763389A>TCA360377991ADGRV1c.12205A>T (p.Thr4069Ser)
c.1159A>T (p.Thr387Ser)
c.265+87180A>T (n.265+87180A>T)
n.2624A>T
n.782A>T
n.12218A>T
c.12202A>T (p.Thr4068Ser)
c.12124A>T (p.Thr4042Ser)
c.9508A>T (p.Thr3170Ser)
c.12226A>T (p.Thr4076Ser)
c.12223A>T (p.Thr4075Ser)
c.12145A>T (p.Thr4049Ser)
c.12130A>T (p.Thr4044Ser)
c.5344A>T (p.Thr1782Ser)
c.5323A>T (p.Thr1775Ser)
n.12221A>T
5g.90763390C>ACA360378029ADGRV1c.12206C>A (p.Thr4069Asn)
c.1160C>A (p.Thr387Asn)
c.265+87181C>A (n.265+87181C>A)
n.2625C>A
n.783C>A
n.12219C>A
c.12203C>A (p.Thr4068Asn)
c.12125C>A (p.Thr4042Asn)
c.9509C>A (p.Thr3170Asn)
c.12227C>A (p.Thr4076Asn)
c.12224C>A (p.Thr4075Asn)
c.12146C>A (p.Thr4049Asn)
c.12131C>A (p.Thr4044Asn)
c.5345C>A (p.Thr1782Asn)
c.5324C>A (p.Thr1775Asn)
n.12222C>A
5g.90763390C>GCA360378033ADGRV1c.12206C>G (p.Thr4069Ser)
c.1160C>G (p.Thr387Ser)
c.265+87181C>G (n.265+87181C>G)
n.2625C>G
n.783C>G
n.12219C>G
c.12203C>G (p.Thr4068Ser)
c.12125C>G (p.Thr4042Ser)
c.9509C>G (p.Thr3170Ser)
c.12227C>G (p.Thr4076Ser)
c.12224C>G (p.Thr4075Ser)
c.12146C>G (p.Thr4049Ser)
c.12131C>G (p.Thr4044Ser)
c.5345C>G (p.Thr1782Ser)
c.5324C>G (p.Thr1775Ser)
n.12222C>G
5g.90763390C>TCA360378036ADGRV1c.12206C>T (p.Thr4069Ile)
c.1160C>T (p.Thr387Ile)
c.265+87181C>T (n.265+87181C>T)
n.2625C>T
n.783C>T
n.12219C>T
c.12203C>T (p.Thr4068Ile)
c.12125C>T (p.Thr4042Ile)
c.9509C>T (p.Thr3170Ile)
c.12227C>T (p.Thr4076Ile)
c.12224C>T (p.Thr4075Ile)
c.12146C>T (p.Thr4049Ile)
c.12131C>T (p.Thr4044Ile)
c.5345C>T (p.Thr1782Ile)
c.5324C>T (p.Thr1775Ile)
n.12222C>T
5g.90763391C>ACA445406706ADGRV1c.12207C>A (p.Thr4069=)
c.1161C>A (p.Thr387=)
c.265+87182C>A (n.265+87182C>A)
n.2626C>A
n.784C>A
n.12220C>A
c.12204C>A (p.Thr4068=)
c.12126C>A (p.Thr4042=)
c.9510C>A (p.Thr3170=)
c.12228C>A (p.Thr4076=)
c.12225C>A (p.Thr4075=)
c.12147C>A (p.Thr4049=)
c.12132C>A (p.Thr4044=)
c.5346C>A (p.Thr1782=)
c.5325C>A (p.Thr1775=)
n.12223C>A
5g.90763391C=CA1562889900ADGRV1c.12207C= (p.Thr4069=)
c.1161C= (p.Thr387=)
c.265+87182C= (n.265+87182C=)
n.2626C=
n.784C=
n.12220C=
c.12204C= (p.Thr4068=)
c.12126C= (p.Thr4042=)
c.9510C= (p.Thr3170=)
c.12228C= (p.Thr4076=)
c.12225C= (p.Thr4075=)
c.12147C= (p.Thr4049=)
c.12132C= (p.Thr4044=)
c.5346C= (p.Thr1782=)
c.5325C= (p.Thr1775=)
n.12223C=
5g.90763391C>GCA445406707ADGRV1c.12207C>G (p.Thr4069=)
c.1161C>G (p.Thr387=)
c.265+87182C>G (n.265+87182C>G)
n.2626C>G
n.784C>G
n.12220C>G
c.12204C>G (p.Thr4068=)
c.12126C>G (p.Thr4042=)
c.9510C>G (p.Thr3170=)
c.12228C>G (p.Thr4076=)
c.12225C>G (p.Thr4075=)
c.12147C>G (p.Thr4049=)
c.12132C>G (p.Thr4044=)
c.5346C>G (p.Thr1782=)
c.5325C>G (p.Thr1775=)
n.12223C>G
 dbSNP gnomAD v4
5g.90763391C>TCA176225ADGRV1c.12207C>T (p.Thr4069=)
c.1161C>T (p.Thr387=)
c.265+87182C>T (n.265+87182C>T)
n.2626C>T
n.784C>T
n.12220C>T
c.12204C>T (p.Thr4068=)
c.12126C>T (p.Thr4042=)
c.9510C>T (p.Thr3170=)
c.12228C>T (p.Thr4076=)
c.12225C>T (p.Thr4075=)
c.12147C>T (p.Thr4049=)
c.12132C>T (p.Thr4044=)
c.5346C>T (p.Thr1782=)
c.5325C>T (p.Thr1775=)
n.12223C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763392G>ACA246506ADGRV1c.12208G>A (p.Val4070Ile)
c.1162G>A (p.Val388Ile)
c.265+87183G>A (n.265+87183G>A)
n.2627G>A
n.785G>A
n.12221G>A
c.12205G>A (p.Val4069Ile)
c.12127G>A (p.Val4043Ile)
c.9511G>A (p.Val3171Ile)
c.12229G>A (p.Val4077Ile)
c.12226G>A (p.Val4076Ile)
c.12148G>A (p.Val4050Ile)
c.12133G>A (p.Val4045Ile)
c.5347G>A (p.Val1783Ile)
c.5326G>A (p.Val1776Ile)
n.12224G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90763392G>CCA360378042ADGRV1c.12208G>C (p.Val4070Leu)
c.1162G>C (p.Val388Leu)
c.265+87183G>C (n.265+87183G>C)
n.2627G>C
n.785G>C
n.12221G>C
c.12205G>C (p.Val4069Leu)
c.12127G>C (p.Val4043Leu)
c.9511G>C (p.Val3171Leu)
c.12229G>C (p.Val4077Leu)
c.12226G>C (p.Val4076Leu)
c.12148G>C (p.Val4050Leu)
c.12133G>C (p.Val4045Leu)
c.5347G>C (p.Val1783Leu)
c.5326G>C (p.Val1776Leu)
n.12224G>C
5g.90763392G=CA1562889901ADGRV1c.12208G= (p.Val4070=)
c.1162G= (p.Val388=)
c.265+87183G= (n.265+87183G=)
n.2627G=
n.785G=
n.12221G=
c.12205G= (p.Val4069=)
c.12127G= (p.Val4043=)
c.9511G= (p.Val3171=)
c.12229G= (p.Val4077=)
c.12226G= (p.Val4076=)
c.12148G= (p.Val4050=)
c.12133G= (p.Val4045=)
c.5347G= (p.Val1783=)
c.5326G= (p.Val1776=)
n.12224G=
5g.90763392G>TCA360378049ADGRV1c.12208G>T (p.Val4070Phe)
c.1162G>T (p.Val388Phe)
c.265+87183G>T (n.265+87183G>T)
n.2627G>T
n.785G>T
n.12221G>T
c.12205G>T (p.Val4069Phe)
c.12127G>T (p.Val4043Phe)
c.9511G>T (p.Val3171Phe)
c.12229G>T (p.Val4077Phe)
c.12226G>T (p.Val4076Phe)
c.12148G>T (p.Val4050Phe)
c.12133G>T (p.Val4045Phe)
c.5347G>T (p.Val1783Phe)
c.5326G>T (p.Val1776Phe)
n.12224G>T
 dbSNP gnomAD v4
5g.90763393T>ACA360378052ADGRV1c.12209T>A (p.Val4070Asp)
c.1163T>A (p.Val388Asp)
c.265+87184T>A (n.265+87184T>A)
n.2628T>A
n.786T>A
n.12222T>A
c.12206T>A (p.Val4069Asp)
c.12128T>A (p.Val4043Asp)
c.9512T>A (p.Val3171Asp)
c.12230T>A (p.Val4077Asp)
c.12227T>A (p.Val4076Asp)
c.12149T>A (p.Val4050Asp)
c.12134T>A (p.Val4045Asp)
c.5348T>A (p.Val1783Asp)
c.5327T>A (p.Val1776Asp)
n.12225T>A
 gnomAD v4
5g.90763393T>CCA360378054ADGRV1c.12209T>C (p.Val4070Ala)
c.1163T>C (p.Val388Ala)
c.265+87184T>C (n.265+87184T>C)
n.2628T>C
n.786T>C
n.12222T>C
c.12206T>C (p.Val4069Ala)
c.12128T>C (p.Val4043Ala)
c.9512T>C (p.Val3171Ala)
c.12230T>C (p.Val4077Ala)
c.12227T>C (p.Val4076Ala)
c.12149T>C (p.Val4050Ala)
c.12134T>C (p.Val4045Ala)
c.5348T>C (p.Val1783Ala)
c.5327T>C (p.Val1776Ala)
n.12225T>C
 gnomAD v4
5g.90763393T>GCA360378058ADGRV1c.12209T>G (p.Val4070Gly)
c.1163T>G (p.Val388Gly)
c.265+87184T>G (n.265+87184T>G)
n.2628T>G
n.786T>G
n.12222T>G
c.12206T>G (p.Val4069Gly)
c.12128T>G (p.Val4043Gly)
c.9512T>G (p.Val3171Gly)
c.12230T>G (p.Val4077Gly)
c.12227T>G (p.Val4076Gly)
c.12149T>G (p.Val4050Gly)
c.12134T>G (p.Val4045Gly)
c.5348T>G (p.Val1783Gly)
c.5327T>G (p.Val1776Gly)
n.12225T>G
5g.90763393dupCA561260037ADGRV1c.12209dup (p.Arg4071ProfsTer3)
c.1163dup (p.Arg389ProfsTer3)
c.265+87184dup (n.265+87184dup)
n.2628dup
n.786dup
n.12222dup
c.12206dup (p.Arg4070ProfsTer3)
c.12128dup (p.Arg4044ProfsTer3)
c.9512dup (p.Arg3172ProfsTer3)
c.12230dup (p.Arg4078ProfsTer3)
c.12227dup (p.Arg4077ProfsTer3)
c.12149dup (p.Arg4051ProfsTer3)
c.12134dup (p.Arg4046ProfsTer3)
c.5348dup (p.Arg1784ProfsTer3)
c.5327dup (p.Arg1777ProfsTer3)
n.12225dup
 dbSNP gnomAD v2 gnomAD v4
5g.90763393_90763394delinsTCCA1562889902ADGRV1c.12209_12210delinsTC (p.Val4070=)
c.1163_1164delinsTC (p.Val388=)
c.265+87184_265+87185delinsTC (n.265+87184_265+87185delinsTC)
n.2628_2629delinsTC
n.786_787delinsTC
n.12222_12223delinsTC
c.12206_12207delinsTC (p.Val4069=)
c.12128_12129delinsTC (p.Val4043=)
c.9512_9513delinsTC (p.Val3171=)
c.12230_12231delinsTC (p.Val4077=)
c.12227_12228delinsTC (p.Val4076=)
c.12149_12150delinsTC (p.Val4050=)
c.12134_12135delinsTC (p.Val4045=)
c.5348_5349delinsTC (p.Val1783=)
c.5327_5328delinsTC (p.Val1776=)
n.12225_12226delinsTC
5g.90763394C>ACA445406726ADGRV1c.12210C>A (p.Val4070=)
c.1164C>A (p.Val388=)
c.265+87185C>A (n.265+87185C>A)
n.2629C>A
n.787C>A
n.12223C>A
c.12207C>A (p.Val4069=)
c.12129C>A (p.Val4043=)
c.9513C>A (p.Val3171=)
c.12231C>A (p.Val4077=)
c.12228C>A (p.Val4076=)
c.12150C>A (p.Val4050=)
c.12135C>A (p.Val4045=)
c.5349C>A (p.Val1783=)
c.5328C>A (p.Val1776=)
n.12226C>A
5g.90763394C>GCA445406727ADGRV1c.12210C>G (p.Val4070=)
c.1164C>G (p.Val388=)
c.265+87185C>G (n.265+87185C>G)
n.2629C>G
n.787C>G
n.12223C>G
c.12207C>G (p.Val4069=)
c.12129C>G (p.Val4043=)
c.9513C>G (p.Val3171=)
c.12231C>G (p.Val4077=)
c.12228C>G (p.Val4076=)
c.12150C>G (p.Val4050=)
c.12135C>G (p.Val4045=)
c.5349C>G (p.Val1783=)
c.5328C>G (p.Val1776=)
n.12226C>G
5g.90763394C>TCA445406728ADGRV1c.12210C>T (p.Val4070=)
c.1164C>T (p.Val388=)
c.265+87185C>T (n.265+87185C>T)
n.2629C>T
n.787C>T
n.12223C>T
c.12207C>T (p.Val4069=)
c.12129C>T (p.Val4043=)
c.9513C>T (p.Val3171=)
c.12231C>T (p.Val4077=)
c.12228C>T (p.Val4076=)
c.12150C>T (p.Val4050=)
c.12135C>T (p.Val4045=)
c.5349C>T (p.Val1783=)
c.5328C>T (p.Val1776=)
n.12226C>T
 gnomAD v4 COSMIC
5g.90763395delCA1562889903ADGRV1c.12211del (p.Arg4071AspfsTer6)
c.1165del (p.Arg389AspfsTer6)
c.265+87186del (n.265+87186del)
n.2630del
n.788del
n.12224del
c.12208del (p.Arg4070AspfsTer6)
c.12130del (p.Arg4044AspfsTer6)
c.9514del (p.Arg3172AspfsTer6)
c.12232del (p.Arg4078AspfsTer6)
c.12229del (p.Arg4077AspfsTer6)
c.12151del (p.Arg4051AspfsTer6)
c.12136del (p.Arg4046AspfsTer6)
c.5350del (p.Arg1784AspfsTer6)
c.5329del (p.Arg1777AspfsTer6)
n.12227del
 ClinVar dbSNP
5g.90763395C>ACA445406731ADGRV1c.12211C>A (p.Arg4071=)
c.1165C>A (p.Arg389=)
c.265+87186C>A (n.265+87186C>A)
n.2630C>A
n.788C>A
n.12224C>A
c.12208C>A (p.Arg4070=)
c.12130C>A (p.Arg4044=)
c.9514C>A (p.Arg3172=)
c.12232C>A (p.Arg4078=)
c.12229C>A (p.Arg4077=)
c.12151C>A (p.Arg4051=)
c.12136C>A (p.Arg4046=)
c.5350C>A (p.Arg1784=)
c.5329C>A (p.Arg1777=)
n.12227C>A
5g.90763395C=CA1562889904ADGRV1c.12211C= (p.Arg4071=)
c.1165C= (p.Arg389=)
c.265+87186C= (n.265+87186C=)
n.2630C=
n.788C=
n.12224C=
c.12208C= (p.Arg4070=)
c.12130C= (p.Arg4044=)
c.9514C= (p.Arg3172=)
c.12232C= (p.Arg4078=)
c.12229C= (p.Arg4077=)
c.12151C= (p.Arg4051=)
c.12136C= (p.Arg4046=)
c.5350C= (p.Arg1784=)
c.5329C= (p.Arg1777=)
n.12227C=
5g.90763395C>GCA360378084ADGRV1c.12211C>G (p.Arg4071Gly)
c.1165C>G (p.Arg389Gly)
c.265+87186C>G (n.265+87186C>G)
n.2630C>G
n.788C>G
n.12224C>G
c.12208C>G (p.Arg4070Gly)
c.12130C>G (p.Arg4044Gly)
c.9514C>G (p.Arg3172Gly)
c.12232C>G (p.Arg4078Gly)
c.12229C>G (p.Arg4077Gly)
c.12151C>G (p.Arg4051Gly)
c.12136C>G (p.Arg4046Gly)
c.5350C>G (p.Arg1784Gly)
c.5329C>G (p.Arg1777Gly)
n.12227C>G
5g.90763395C>TCA360378075ADGRV1c.12211C>T (p.Arg4071Ter)
c.1165C>T (p.Arg389Ter)
c.265+87186C>T (n.265+87186C>T)
n.2630C>T
n.788C>T
n.12224C>T
c.12208C>T (p.Arg4070Ter)
c.12130C>T (p.Arg4044Ter)
c.9514C>T (p.Arg3172Ter)
c.12232C>T (p.Arg4078Ter)
c.12229C>T (p.Arg4077Ter)
c.12151C>T (p.Arg4051Ter)
c.12136C>T (p.Arg4046Ter)
c.5350C>T (p.Arg1784Ter)
c.5329C>T (p.Arg1777Ter)
n.12227C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.90763396G>ACA182191ADGRV1c.12212G>A (p.Arg4071Gln)
c.1166G>A (p.Arg389Gln)
c.265+87187G>A (n.265+87187G>A)
n.2631G>A
n.789G>A
n.12225G>A
c.12209G>A (p.Arg4070Gln)
c.12131G>A (p.Arg4044Gln)
c.9515G>A (p.Arg3172Gln)
c.12233G>A (p.Arg4078Gln)
c.12230G>A (p.Arg4077Gln)
c.12152G>A (p.Arg4051Gln)
c.12137G>A (p.Arg4046Gln)
c.5351G>A (p.Arg1784Gln)
c.5330G>A (p.Arg1777Gln)
n.12228G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90763396G>CCA360378097ADGRV1c.12212G>C (p.Arg4071Pro)
c.1166G>C (p.Arg389Pro)
c.265+87187G>C (n.265+87187G>C)
n.2631G>C
n.789G>C
n.12225G>C
c.12209G>C (p.Arg4070Pro)
c.12131G>C (p.Arg4044Pro)
c.9515G>C (p.Arg3172Pro)
c.12233G>C (p.Arg4078Pro)
c.12230G>C (p.Arg4077Pro)
c.12152G>C (p.Arg4051Pro)
c.12137G>C (p.Arg4046Pro)
c.5351G>C (p.Arg1784Pro)
c.5330G>C (p.Arg1777Pro)
n.12228G>C
5g.90763396G=CA1562889905ADGRV1c.12212G= (p.Arg4071=)
c.1166G= (p.Arg389=)
c.265+87187G= (n.265+87187G=)
n.2631G=
n.789G=
n.12225G=
c.12209G= (p.Arg4070=)
c.12131G= (p.Arg4044=)
c.9515G= (p.Arg3172=)
c.12233G= (p.Arg4078=)
c.12230G= (p.Arg4077=)
c.12152G= (p.Arg4051=)
c.12137G= (p.Arg4046=)
c.5351G= (p.Arg1784=)
c.5330G= (p.Arg1777=)
n.12228G=
5g.90763396G>TCA360378102ADGRV1c.12212G>T (p.Arg4071Leu)
c.1166G>T (p.Arg389Leu)
c.265+87187G>T (n.265+87187G>T)
n.2631G>T
n.789G>T
n.12225G>T
c.12209G>T (p.Arg4070Leu)
c.12131G>T (p.Arg4044Leu)
c.9515G>T (p.Arg3172Leu)
c.12233G>T (p.Arg4078Leu)
c.12230G>T (p.Arg4077Leu)
c.12152G>T (p.Arg4051Leu)
c.12137G>T (p.Arg4046Leu)
c.5351G>T (p.Arg1784Leu)
c.5330G>T (p.Arg1777Leu)
n.12228G>T
 gnomAD v4
5g.90763397A>CCA445406746ADGRV1c.12213A>C (p.Arg4071=)
c.1167A>C (p.Arg389=)
c.265+87188A>C (n.265+87188A>C)
n.2632A>C
n.790A>C
n.12226A>C
c.12210A>C (p.Arg4070=)
c.12132A>C (p.Arg4044=)
c.9516A>C (p.Arg3172=)
c.12234A>C (p.Arg4078=)
c.12231A>C (p.Arg4077=)
c.12153A>C (p.Arg4051=)
c.12138A>C (p.Arg4046=)
c.5352A>C (p.Arg1784=)
c.5331A>C (p.Arg1777=)
n.12229A>C
5g.90763397A>GCA445406748ADGRV1c.12213A>G (p.Arg4071=)
c.1167A>G (p.Arg389=)
c.265+87188A>G (n.265+87188A>G)
n.2632A>G
n.790A>G
n.12226A>G
c.12210A>G (p.Arg4070=)
c.12132A>G (p.Arg4044=)
c.9516A>G (p.Arg3172=)
c.12234A>G (p.Arg4078=)
c.12231A>G (p.Arg4077=)
c.12153A>G (p.Arg4051=)
c.12138A>G (p.Arg4046=)
c.5352A>G (p.Arg1784=)
c.5331A>G (p.Arg1777=)
n.12229A>G
 gnomAD v4
5g.90763397A>TCA445406747ADGRV1c.12213A>T (p.Arg4071=)
c.1167A>T (p.Arg389=)
c.265+87188A>T (n.265+87188A>T)
n.2632A>T
n.790A>T
n.12226A>T
c.12210A>T (p.Arg4070=)
c.12132A>T (p.Arg4044=)
c.9516A>T (p.Arg3172=)
c.12234A>T (p.Arg4078=)
c.12231A>T (p.Arg4077=)
c.12153A>T (p.Arg4051=)
c.12138A>T (p.Arg4046=)
c.5352A>T (p.Arg1784=)
c.5331A>T (p.Arg1777=)
n.12229A>T
5g.90763398C>ACA360378107ADGRV1c.12214C>A (p.Leu4072Ile)
c.1168C>A (p.Leu390Ile)
c.265+87189C>A (n.265+87189C>A)
n.2633C>A
n.791C>A
n.12227C>A
c.12211C>A (p.Leu4071Ile)
c.12133C>A (p.Leu4045Ile)
c.9517C>A (p.Leu3173Ile)
c.12235C>A (p.Leu4079Ile)
c.12232C>A (p.Leu4078Ile)
c.12154C>A (p.Leu4052Ile)
c.12139C>A (p.Leu4047Ile)
c.5353C>A (p.Leu1785Ile)
c.5332C>A (p.Leu1778Ile)
n.12230C>A
5g.90763398C=CA1562889906ADGRV1c.12214C= (p.Leu4072=)
c.1168C= (p.Leu390=)
c.265+87189C= (n.265+87189C=)
n.2633C=
n.791C=
n.12227C=
c.12211C= (p.Leu4071=)
c.12133C= (p.Leu4045=)
c.9517C= (p.Leu3173=)
c.12235C= (p.Leu4079=)
c.12232C= (p.Leu4078=)
c.12154C= (p.Leu4052=)
c.12139C= (p.Leu4047=)
c.5353C= (p.Leu1785=)
c.5332C= (p.Leu1778=)
n.12230C=
5g.90763398C>GCA360378108ADGRV1c.12214C>G (p.Leu4072Val)
c.1168C>G (p.Leu390Val)
c.265+87189C>G (n.265+87189C>G)
n.2633C>G
n.791C>G
n.12227C>G
c.12211C>G (p.Leu4071Val)
c.12133C>G (p.Leu4045Val)
c.9517C>G (p.Leu3173Val)
c.12235C>G (p.Leu4079Val)
c.12232C>G (p.Leu4078Val)
c.12154C>G (p.Leu4052Val)
c.12139C>G (p.Leu4047Val)
c.5353C>G (p.Leu1785Val)
c.5332C>G (p.Leu1778Val)
n.12230C>G
 dbSNP gnomAD v2 gnomAD v4
5g.90763398C>TCA360378109ADGRV1c.12214C>T (p.Leu4072Phe)
c.1168C>T (p.Leu390Phe)
c.265+87189C>T (n.265+87189C>T)
n.2633C>T
n.791C>T
n.12227C>T
c.12211C>T (p.Leu4071Phe)
c.12133C>T (p.Leu4045Phe)
c.9517C>T (p.Leu3173Phe)
c.12235C>T (p.Leu4079Phe)
c.12232C>T (p.Leu4078Phe)
c.12154C>T (p.Leu4052Phe)
c.12139C>T (p.Leu4047Phe)
c.5353C>T (p.Leu1785Phe)
c.5332C>T (p.Leu1778Phe)
n.12230C>T
5g.90763399T>ACA360378110ADGRV1c.12215T>A (p.Leu4072His)
c.1169T>A (p.Leu390His)
c.265+87190T>A (n.265+87190T>A)
n.2634T>A
n.792T>A
n.12228T>A
c.12212T>A (p.Leu4071His)
c.12134T>A (p.Leu4045His)
c.9518T>A (p.Leu3173His)
c.12236T>A (p.Leu4079His)
c.12233T>A (p.Leu4078His)
c.12155T>A (p.Leu4052His)
c.12140T>A (p.Leu4047His)
c.5354T>A (p.Leu1785His)
c.5333T>A (p.Leu1778His)
n.12231T>A
5g.90763399T>CCA360378112ADGRV1c.12215T>C (p.Leu4072Pro)
c.1169T>C (p.Leu390Pro)
c.265+87190T>C (n.265+87190T>C)
n.2634T>C
n.792T>C
n.12228T>C
c.12212T>C (p.Leu4071Pro)
c.12134T>C (p.Leu4045Pro)
c.9518T>C (p.Leu3173Pro)
c.12236T>C (p.Leu4079Pro)
c.12233T>C (p.Leu4078Pro)
c.12155T>C (p.Leu4052Pro)
c.12140T>C (p.Leu4047Pro)
c.5354T>C (p.Leu1785Pro)
c.5333T>C (p.Leu1778Pro)
n.12231T>C
5g.90763399T>GCA360378114ADGRV1c.12215T>G (p.Leu4072Arg)
c.1169T>G (p.Leu390Arg)
c.265+87190T>G (n.265+87190T>G)
n.2634T>G
n.792T>G
n.12228T>G
c.12212T>G (p.Leu4071Arg)
c.12134T>G (p.Leu4045Arg)
c.9518T>G (p.Leu3173Arg)
c.12236T>G (p.Leu4079Arg)
c.12233T>G (p.Leu4078Arg)
c.12155T>G (p.Leu4052Arg)
c.12140T>G (p.Leu4047Arg)
c.5354T>G (p.Leu1785Arg)
c.5333T>G (p.Leu1778Arg)
n.12231T>G
5g.90763400T>ACA445406763ADGRV1c.12216T>A (p.Leu4072=)
c.1170T>A (p.Leu390=)
c.265+87191T>A (n.265+87191T>A)
n.2635T>A
n.793T>A
n.12229T>A
c.12213T>A (p.Leu4071=)
c.12135T>A (p.Leu4045=)
c.9519T>A (p.Leu3173=)
c.12237T>A (p.Leu4079=)
c.12234T>A (p.Leu4078=)
c.12156T>A (p.Leu4052=)
c.12141T>A (p.Leu4047=)
c.5355T>A (p.Leu1785=)
c.5334T>A (p.Leu1778=)
n.12232T>A
5g.90763400T>CCA445406765ADGRV1c.12216T>C (p.Leu4072=)
c.1170T>C (p.Leu390=)
c.265+87191T>C (n.265+87191T>C)
n.2635T>C
n.793T>C
n.12229T>C
c.12213T>C (p.Leu4071=)
c.12135T>C (p.Leu4045=)
c.9519T>C (p.Leu3173=)
c.12237T>C (p.Leu4079=)
c.12234T>C (p.Leu4078=)
c.12156T>C (p.Leu4052=)
c.12141T>C (p.Leu4047=)
c.5355T>C (p.Leu1785=)
c.5334T>C (p.Leu1778=)
n.12232T>C
5g.90763400T>GCA445406770ADGRV1c.12216T>G (p.Leu4072=)
c.1170T>G (p.Leu390=)
c.265+87191T>G (n.265+87191T>G)
n.2635T>G
n.793T>G
n.12229T>G
c.12213T>G (p.Leu4071=)
c.12135T>G (p.Leu4045=)
c.9519T>G (p.Leu3173=)
c.12237T>G (p.Leu4079=)
c.12234T>G (p.Leu4078=)
c.12156T>G (p.Leu4052=)
c.12141T>G (p.Leu4047=)
c.5355T>G (p.Leu1785=)
c.5334T>G (p.Leu1778=)
n.12232T>G
5g.90763401delCA2674574501ADGRV1c.12217del (p.Glu4073SerfsTer4)
c.1171del (p.Glu391SerfsTer4)
c.265+87192del (n.265+87192del)
n.2636del
n.794del
n.12230del
c.12214del (p.Glu4072SerfsTer4)
c.12136del (p.Glu4046SerfsTer4)
c.9520del (p.Glu3174SerfsTer4)
c.12238del (p.Glu4080SerfsTer4)
c.12235del (p.Glu4079SerfsTer4)
c.12157del (p.Glu4053SerfsTer4)
c.12142del (p.Glu4048SerfsTer4)
c.5356del (p.Glu1786SerfsTer4)
c.5335del (p.Glu1779SerfsTer4)
n.12233del
 gnomAD v4
5g.90763401G>ACA360378116ADGRV1c.12217G>A (p.Glu4073Lys)
c.1171G>A (p.Glu391Lys)
c.265+87192G>A (n.265+87192G>A)
n.2636G>A
n.794G>A
n.12230G>A
c.12214G>A (p.Glu4072Lys)
c.12136G>A (p.Glu4046Lys)
c.9520G>A (p.Glu3174Lys)
c.12238G>A (p.Glu4080Lys)
c.12235G>A (p.Glu4079Lys)
c.12157G>A (p.Glu4053Lys)
c.12142G>A (p.Glu4048Lys)
c.5356G>A (p.Glu1786Lys)
c.5335G>A (p.Glu1779Lys)
n.12233G>A
5g.90763401G>CCA3341175ADGRV1c.12217G>C (p.Glu4073Gln)
c.1171G>C (p.Glu391Gln)
c.265+87192G>C (n.265+87192G>C)
n.2636G>C
n.794G>C
n.12230G>C
c.12214G>C (p.Glu4072Gln)
c.12136G>C (p.Glu4046Gln)
c.9520G>C (p.Glu3174Gln)
c.12238G>C (p.Glu4080Gln)
c.12235G>C (p.Glu4079Gln)
c.12157G>C (p.Glu4053Gln)
c.12142G>C (p.Glu4048Gln)
c.5356G>C (p.Glu1786Gln)
c.5335G>C (p.Glu1779Gln)
n.12233G>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.90763401G=CA1562889907ADGRV1c.12217G= (p.Glu4073=)
c.1171G= (p.Glu391=)
c.265+87192G= (n.265+87192G=)
n.2636G=
n.794G=
n.12230G=
c.12214G= (p.Glu4072=)
c.12136G= (p.Glu4046=)
c.9520G= (p.Glu3174=)
c.12238G= (p.Glu4080=)
c.12235G= (p.Glu4079=)
c.12157G= (p.Glu4053=)
c.12142G= (p.Glu4048=)
c.5356G= (p.Glu1786=)
c.5335G= (p.Glu1779=)
n.12233G=
5g.90763401G>TCA360378124ADGRV1c.12217G>T (p.Glu4073Ter)
c.1171G>T (p.Glu391Ter)
c.265+87192G>T (n.265+87192G>T)
n.2636G>T
n.794G>T
n.12230G>T
c.12214G>T (p.Glu4072Ter)
c.12136G>T (p.Glu4046Ter)
c.9520G>T (p.Glu3174Ter)
c.12238G>T (p.Glu4080Ter)
c.12235G>T (p.Glu4079Ter)
c.12157G>T (p.Glu4053Ter)
c.12142G>T (p.Glu4048Ter)
c.5356G>T (p.Glu1786Ter)
c.5335G>T (p.Glu1779Ter)
n.12233G>T
5g.90763402A>CCA360378132ADGRV1c.12218A>C (p.Glu4073Ala)
c.1172A>C (p.Glu391Ala)
c.265+87193A>C (n.265+87193A>C)
n.2637A>C
n.795A>C
n.12231A>C
c.12215A>C (p.Glu4072Ala)
c.12137A>C (p.Glu4046Ala)
c.9521A>C (p.Glu3174Ala)
c.12239A>C (p.Glu4080Ala)
c.12236A>C (p.Glu4079Ala)
c.12158A>C (p.Glu4053Ala)
c.12143A>C (p.Glu4048Ala)
c.5357A>C (p.Glu1786Ala)
c.5336A>C (p.Glu1779Ala)
n.12234A>C
5g.90763402A>GCA360378157ADGRV1c.12218A>G (p.Glu4073Gly)
c.1172A>G (p.Glu391Gly)
c.265+87193A>G (n.265+87193A>G)
n.2637A>G
n.795A>G
n.12231A>G
c.12215A>G (p.Glu4072Gly)
c.12137A>G (p.Glu4046Gly)
c.9521A>G (p.Glu3174Gly)
c.12239A>G (p.Glu4080Gly)
c.12236A>G (p.Glu4079Gly)
c.12158A>G (p.Glu4053Gly)
c.12143A>G (p.Glu4048Gly)
c.5357A>G (p.Glu1786Gly)
c.5336A>G (p.Glu1779Gly)
n.12234A>G
5g.90763402A>TCA360378149ADGRV1c.12218A>T (p.Glu4073Val)
c.1172A>T (p.Glu391Val)
c.265+87193A>T (n.265+87193A>T)
n.2637A>T
n.795A>T
n.12231A>T
c.12215A>T (p.Glu4072Val)
c.12137A>T (p.Glu4046Val)
c.9521A>T (p.Glu3174Val)
c.12239A>T (p.Glu4080Val)
c.12236A>T (p.Glu4079Val)
c.12158A>T (p.Glu4053Val)
c.12143A>T (p.Glu4048Val)
c.5357A>T (p.Glu1786Val)
c.5336A>T (p.Glu1779Val)
n.12234A>T
5g.90763403G>ACA445406794ADGRV1c.12219G>A (p.Glu4073=)
c.1173G>A (p.Glu391=)
c.265+87194G>A (n.265+87194G>A)
n.2638G>A
n.796G>A
n.12232G>A
c.12216G>A (p.Glu4072=)
c.12138G>A (p.Glu4046=)
c.9522G>A (p.Glu3174=)
c.12240G>A (p.Glu4080=)
c.12237G>A (p.Glu4079=)
c.12159G>A (p.Glu4053=)
c.12144G>A (p.Glu4048=)
c.5358G>A (p.Glu1786=)
c.5337G>A (p.Glu1779=)
n.12235G>A
 ClinVar
5g.90763403G>CCA360378158ADGRV1c.12219G>C (p.Glu4073Asp)
c.1173G>C (p.Glu391Asp)
c.265+87194G>C (n.265+87194G>C)
n.2638G>C
n.796G>C
n.12232G>C
c.12216G>C (p.Glu4072Asp)
c.12138G>C (p.Glu4046Asp)
c.9522G>C (p.Glu3174Asp)
c.12240G>C (p.Glu4080Asp)
c.12237G>C (p.Glu4079Asp)
c.12159G>C (p.Glu4053Asp)
c.12144G>C (p.Glu4048Asp)
c.5358G>C (p.Glu1786Asp)
c.5337G>C (p.Glu1779Asp)
n.12235G>C
5g.90763403G>TCA360378159ADGRV1c.12219G>T (p.Glu4073Asp)
c.1173G>T (p.Glu391Asp)
c.265+87194G>T (n.265+87194G>T)
n.2638G>T
n.796G>T
n.12232G>T
c.12216G>T (p.Glu4072Asp)
c.12138G>T (p.Glu4046Asp)
c.9522G>T (p.Glu3174Asp)
c.12240G>T (p.Glu4080Asp)
c.12237G>T (p.Glu4079Asp)
c.12159G>T (p.Glu4053Asp)
c.12144G>T (p.Glu4048Asp)
c.5358G>T (p.Glu1786Asp)
c.5337G>T (p.Glu1779Asp)
n.12235G>T
 dbSNP
5g.90763404T>ACA360378163ADGRV1c.12220T>A (p.Trp4074Arg)
c.1174T>A (p.Trp392Arg)
c.265+87195T>A (n.265+87195T>A)
n.2639T>A
n.797T>A
n.12233T>A
c.12217T>A (p.Trp4073Arg)
c.12139T>A (p.Trp4047Arg)
c.9523T>A (p.Trp3175Arg)
c.12241T>A (p.Trp4081Arg)
c.12238T>A (p.Trp4080Arg)
c.12160T>A (p.Trp4054Arg)
c.12145T>A (p.Trp4049Arg)
c.5359T>A (p.Trp1787Arg)
c.5338T>A (p.Trp1780Arg)
n.12236T>A
5g.90763404T>CCA360378167ADGRV1c.12220T>C (p.Trp4074Arg)
c.1174T>C (p.Trp392Arg)
c.265+87195T>C (n.265+87195T>C)
n.2639T>C
n.797T>C
n.12233T>C
c.12217T>C (p.Trp4073Arg)
c.12139T>C (p.Trp4047Arg)
c.9523T>C (p.Trp3175Arg)
c.12241T>C (p.Trp4081Arg)
c.12238T>C (p.Trp4080Arg)
c.12160T>C (p.Trp4054Arg)
c.12145T>C (p.Trp4049Arg)
c.5359T>C (p.Trp1787Arg)
c.5338T>C (p.Trp1780Arg)
n.12236T>C
 ClinVar dbSNP
5g.90763404T>GCA360378175ADGRV1c.12220T>G (p.Trp4074Gly)
c.1174T>G (p.Trp392Gly)
c.265+87195T>G (n.265+87195T>G)
n.2639T>G
n.797T>G
n.12233T>G
c.12217T>G (p.Trp4073Gly)
c.12139T>G (p.Trp4047Gly)
c.9523T>G (p.Trp3175Gly)
c.12241T>G (p.Trp4081Gly)
c.12238T>G (p.Trp4080Gly)
c.12160T>G (p.Trp4054Gly)
c.12145T>G (p.Trp4049Gly)
c.5359T>G (p.Trp1787Gly)
c.5338T>G (p.Trp1780Gly)
n.12236T>G
5g.90763405G>ACA360378184ADGRV1c.12221G>A (p.Trp4074Ter)
c.1175G>A (p.Trp392Ter)
c.265+87196G>A (n.265+87196G>A)
n.2640G>A
n.798G>A
n.12234G>A
c.12218G>A (p.Trp4073Ter)
c.12140G>A (p.Trp4047Ter)
c.9524G>A (p.Trp3175Ter)
c.12242G>A (p.Trp4081Ter)
c.12239G>A (p.Trp4080Ter)
c.12161G>A (p.Trp4054Ter)
c.12146G>A (p.Trp4049Ter)
c.5360G>A (p.Trp1787Ter)
c.5339G>A (p.Trp1780Ter)
n.12237G>A
5g.90763405G>CCA360378177ADGRV1c.12221G>C (p.Trp4074Ser)
c.1175G>C (p.Trp392Ser)
c.265+87196G>C (n.265+87196G>C)
n.2640G>C
n.798G>C
n.12234G>C
c.12218G>C (p.Trp4073Ser)
c.12140G>C (p.Trp4047Ser)
c.9524G>C (p.Trp3175Ser)
c.12242G>C (p.Trp4081Ser)
c.12239G>C (p.Trp4080Ser)
c.12161G>C (p.Trp4054Ser)
c.12146G>C (p.Trp4049Ser)
c.5360G>C (p.Trp1787Ser)
c.5339G>C (p.Trp1780Ser)
n.12237G>C
5g.90763405G>TCA360378176ADGRV1c.12221G>T (p.Trp4074Leu)
c.1175G>T (p.Trp392Leu)
c.265+87196G>T (n.265+87196G>T)
n.2640G>T
n.798G>T
n.12234G>T
c.12218G>T (p.Trp4073Leu)
c.12140G>T (p.Trp4047Leu)
c.9524G>T (p.Trp3175Leu)
c.12242G>T (p.Trp4081Leu)
c.12239G>T (p.Trp4080Leu)
c.12161G>T (p.Trp4054Leu)
c.12146G>T (p.Trp4049Leu)
c.5360G>T (p.Trp1787Leu)
c.5339G>T (p.Trp1780Leu)
n.12237G>T
5g.90763405_90763408dupCA2767420957ADGRV1c.12221_12224dup (p.Ile4076AspfsTer4)
c.1175_1178dup (p.Ile394AspfsTer4)
c.265+87196_265+87199dup (n.265+87196_265+87199dup)
n.2640_2643dup
n.798_801dup
n.12234_12237dup
c.12218_12221dup (p.Ile4075AspfsTer4)
c.12140_12143dup (p.Ile4049AspfsTer4)
c.9524_9527dup (p.Ile3177AspfsTer4)
c.12242_12245dup (p.Ile4083AspfsTer4)
c.12239_12242dup (p.Ile4082AspfsTer4)
c.12161_12164dup (p.Ile4056AspfsTer4)
c.12146_12149dup (p.Ile4051AspfsTer4)
c.5360_5363dup (p.Ile1789AspfsTer4)
c.5339_5342dup (p.Ile1782AspfsTer4)
n.12237_12240dup
5g.90763406G>ACA360378190ADGRV1c.12222G>A (p.Trp4074Ter)
c.1176G>A (p.Trp392Ter)
c.265+87197G>A (n.265+87197G>A)
n.2641G>A
n.799G>A
n.12235G>A
c.12219G>A (p.Trp4073Ter)
c.12141G>A (p.Trp4047Ter)
c.9525G>A (p.Trp3175Ter)
c.12243G>A (p.Trp4081Ter)
c.12240G>A (p.Trp4080Ter)
c.12162G>A (p.Trp4054Ter)
c.12147G>A (p.Trp4049Ter)
c.5361G>A (p.Trp1787Ter)
c.5340G>A (p.Trp1780Ter)
n.12238G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90763406G>CCA360378198ADGRV1c.12222G>C (p.Trp4074Cys)
c.1176G>C (p.Trp392Cys)
c.265+87197G>C (n.265+87197G>C)
n.2641G>C
n.799G>C
n.12235G>C
c.12219G>C (p.Trp4073Cys)
c.12141G>C (p.Trp4047Cys)
c.9525G>C (p.Trp3175Cys)
c.12243G>C (p.Trp4081Cys)
c.12240G>C (p.Trp4080Cys)
c.12162G>C (p.Trp4054Cys)
c.12147G>C (p.Trp4049Cys)
c.5361G>C (p.Trp1787Cys)
c.5340G>C (p.Trp1780Cys)
n.12238G>C
5g.90763406G=CA1562889908ADGRV1c.12222G= (p.Trp4074=)
c.1176G= (p.Trp392=)
c.265+87197G= (n.265+87197G=)
n.2641G=
n.799G=
n.12235G=
c.12219G= (p.Trp4073=)
c.12141G= (p.Trp4047=)
c.9525G= (p.Trp3175=)
c.12243G= (p.Trp4081=)
c.12240G= (p.Trp4080=)
c.12162G= (p.Trp4054=)
c.12147G= (p.Trp4049=)
c.5361G= (p.Trp1787=)
c.5340G= (p.Trp1780=)
n.12238G=
5g.90763406G>TCA360378226ADGRV1c.12222G>T (p.Trp4074Cys)
c.1176G>T (p.Trp392Cys)
c.265+87197G>T (n.265+87197G>T)
n.2641G>T
n.799G>T
n.12235G>T
c.12219G>T (p.Trp4073Cys)
c.12141G>T (p.Trp4047Cys)
c.9525G>T (p.Trp3175Cys)
c.12243G>T (p.Trp4081Cys)
c.12240G>T (p.Trp4080Cys)
c.12162G>T (p.Trp4054Cys)
c.12147G>T (p.Trp4049Cys)
c.5361G>T (p.Trp1787Cys)
c.5340G>T (p.Trp1780Cys)
n.12238G>T
5g.90763407A>CCA360378235ADGRV1c.12223A>C (p.Thr4075Pro)
c.1177A>C (p.Thr393Pro)
c.265+87198A>C (n.265+87198A>C)
n.2642A>C
n.800A>C
n.12236A>C
c.12220A>C (p.Thr4074Pro)
c.12142A>C (p.Thr4048Pro)
c.9526A>C (p.Thr3176Pro)
c.12244A>C (p.Thr4082Pro)
c.12241A>C (p.Thr4081Pro)
c.12163A>C (p.Thr4055Pro)
c.12148A>C (p.Thr4050Pro)
c.5362A>C (p.Thr1788Pro)
c.5341A>C (p.Thr1781Pro)
n.12239A>C
5g.90763407A>GCA360378246ADGRV1c.12223A>G (p.Thr4075Ala)
c.1177A>G (p.Thr393Ala)
c.265+87198A>G (n.265+87198A>G)
n.2642A>G
n.800A>G
n.12236A>G
c.12220A>G (p.Thr4074Ala)
c.12142A>G (p.Thr4048Ala)
c.9526A>G (p.Thr3176Ala)
c.12244A>G (p.Thr4082Ala)
c.12241A>G (p.Thr4081Ala)
c.12163A>G (p.Thr4055Ala)
c.12148A>G (p.Thr4050Ala)
c.5362A>G (p.Thr1788Ala)
c.5341A>G (p.Thr1781Ala)
n.12239A>G
5g.90763407A>TCA360378250ADGRV1c.12223A>T (p.Thr4075Ser)
c.1177A>T (p.Thr393Ser)
c.265+87198A>T (n.265+87198A>T)
n.2642A>T
n.800A>T
n.12236A>T
c.12220A>T (p.Thr4074Ser)
c.12142A>T (p.Thr4048Ser)
c.9526A>T (p.Thr3176Ser)
c.12244A>T (p.Thr4082Ser)
c.12241A>T (p.Thr4081Ser)
c.12163A>T (p.Thr4055Ser)
c.12148A>T (p.Thr4050Ser)
c.5362A>T (p.Thr1788Ser)
c.5341A>T (p.Thr1781Ser)
n.12239A>T
5g.90763408C>ACA360378279ADGRV1c.12224C>A (p.Thr4075Asn)
c.1178C>A (p.Thr393Asn)
c.265+87199C>A (n.265+87199C>A)
n.2643C>A
n.801C>A
n.12237C>A
c.12221C>A (p.Thr4074Asn)
c.12143C>A (p.Thr4048Asn)
c.9527C>A (p.Thr3176Asn)
c.12245C>A (p.Thr4082Asn)
c.12242C>A (p.Thr4081Asn)
c.12164C>A (p.Thr4055Asn)
c.12149C>A (p.Thr4050Asn)
c.5363C>A (p.Thr1788Asn)
c.5342C>A (p.Thr1781Asn)
n.12240C>A
5g.90763408C=CA1562889909ADGRV1c.12224C= (p.Thr4075=)
c.1178C= (p.Thr393=)
c.265+87199C= (n.265+87199C=)
n.2643C=
n.801C=
n.12237C=
c.12221C= (p.Thr4074=)
c.12143C= (p.Thr4048=)
c.9527C= (p.Thr3176=)
c.12245C= (p.Thr4082=)
c.12242C= (p.Thr4081=)
c.12164C= (p.Thr4055=)
c.12149C= (p.Thr4050=)
c.5363C= (p.Thr1788=)
c.5342C= (p.Thr1781=)
n.12240C=
5g.90763408C>GCA360378257ADGRV1c.12224C>G (p.Thr4075Ser)
c.1178C>G (p.Thr393Ser)
c.265+87199C>G (n.265+87199C>G)
n.2643C>G
n.801C>G
n.12237C>G
c.12221C>G (p.Thr4074Ser)
c.12143C>G (p.Thr4048Ser)
c.9527C>G (p.Thr3176Ser)
c.12245C>G (p.Thr4082Ser)
c.12242C>G (p.Thr4081Ser)
c.12164C>G (p.Thr4055Ser)
c.12149C>G (p.Thr4050Ser)
c.5363C>G (p.Thr1788Ser)
c.5342C>G (p.Thr1781Ser)
n.12240C>G
5g.90763408C>TCA3341176ADGRV1c.12224C>T (p.Thr4075Ile)
c.1178C>T (p.Thr393Ile)
c.265+87199C>T (n.265+87199C>T)
n.2643C>T
n.801C>T
n.12237C>T
c.12221C>T (p.Thr4074Ile)
c.12143C>T (p.Thr4048Ile)
c.9527C>T (p.Thr3176Ile)
c.12245C>T (p.Thr4082Ile)
c.12242C>T (p.Thr4081Ile)
c.12164C>T (p.Thr4055Ile)
c.12149C>T (p.Thr4050Ile)
c.5363C>T (p.Thr1788Ile)
c.5342C>T (p.Thr1781Ile)
n.12240C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763409C>ACA445406837ADGRV1c.12225C>A (p.Thr4075=)
c.1179C>A (p.Thr393=)
c.265+87200C>A (n.265+87200C>A)
n.2644C>A
n.802C>A
n.12238C>A
c.12222C>A (p.Thr4074=)
c.12144C>A (p.Thr4048=)
c.9528C>A (p.Thr3176=)
c.12246C>A (p.Thr4082=)
c.12243C>A (p.Thr4081=)
c.12165C>A (p.Thr4055=)
c.12150C>A (p.Thr4050=)
c.5364C>A (p.Thr1788=)
c.5343C>A (p.Thr1781=)
n.12241C>A
5g.90763409C>GCA445406839ADGRV1c.12225C>G (p.Thr4075=)
c.1179C>G (p.Thr393=)
c.265+87200C>G (n.265+87200C>G)
n.2644C>G
n.802C>G
n.12238C>G
c.12222C>G (p.Thr4074=)
c.12144C>G (p.Thr4048=)
c.9528C>G (p.Thr3176=)
c.12246C>G (p.Thr4082=)
c.12243C>G (p.Thr4081=)
c.12165C>G (p.Thr4055=)
c.12150C>G (p.Thr4050=)
c.5364C>G (p.Thr1788=)
c.5343C>G (p.Thr1781=)
n.12241C>G
5g.90763409C>TCA445406838ADGRV1c.12225C>T (p.Thr4075=)
c.1179C>T (p.Thr393=)
c.265+87200C>T (n.265+87200C>T)
n.2644C>T
n.802C>T
n.12238C>T
c.12222C>T (p.Thr4074=)
c.12144C>T (p.Thr4048=)
c.9528C>T (p.Thr3176=)
c.12246C>T (p.Thr4082=)
c.12243C>T (p.Thr4081=)
c.12165C>T (p.Thr4055=)
c.12150C>T (p.Thr4050=)
c.5364C>T (p.Thr1788=)
c.5343C>T (p.Thr1781=)
n.12241C>T
5g.90763409_90763410insGTAGCA2674574506ADGRV1c.12225_12226insGTAG (p.Ile4076ValfsTer4)
c.1179_1180insGTAG (p.Ile394ValfsTer4)
c.265+87200_265+87201insGTAG (n.265+87200_265+87201insGTAG)
n.2644_2645insGTAG
n.802_803insGTAG
n.12238_12239insGTAG
c.12222_12223insGTAG (p.Ile4075ValfsTer4)
c.12144_12145insGTAG (p.Ile4049ValfsTer4)
c.9528_9529insGTAG (p.Ile3177ValfsTer4)
c.12246_12247insGTAG (p.Ile4083ValfsTer4)
c.12243_12244insGTAG (p.Ile4082ValfsTer4)
c.12165_12166insGTAG (p.Ile4056ValfsTer4)
c.12150_12151insGTAG (p.Ile4051ValfsTer4)
c.5364_5365insGTAG (p.Ile1789ValfsTer4)
c.5343_5344insGTAG (p.Ile1782ValfsTer4)
n.12241_12242insGTAG
 gnomAD v4
5g.90763410A=CA1562889910ADGRV1c.12226A= (p.Ile4076=)
c.1180A= (p.Ile394=)
c.265+87201A= (n.265+87201A=)
n.2645A=
n.803A=
n.12239A=
c.12223A= (p.Ile4075=)
c.12145A= (p.Ile4049=)
c.9529A= (p.Ile3177=)
c.12247A= (p.Ile4083=)
c.12244A= (p.Ile4082=)
c.12166A= (p.Ile4056=)
c.12151A= (p.Ile4051=)
c.5365A= (p.Ile1789=)
c.5344A= (p.Ile1782=)
n.12242A=
5g.90763410A>CCA360378285ADGRV1c.12226A>C (p.Ile4076Leu)
c.1180A>C (p.Ile394Leu)
c.265+87201A>C (n.265+87201A>C)
n.2645A>C
n.803A>C
n.12239A>C
c.12223A>C (p.Ile4075Leu)
c.12145A>C (p.Ile4049Leu)
c.9529A>C (p.Ile3177Leu)
c.12247A>C (p.Ile4083Leu)
c.12244A>C (p.Ile4082Leu)
c.12166A>C (p.Ile4056Leu)
c.12151A>C (p.Ile4051Leu)
c.5365A>C (p.Ile1789Leu)
c.5344A>C (p.Ile1782Leu)
n.12242A>C
 gnomAD v4
5g.90763410A>GCA360378289ADGRV1c.12226A>G (p.Ile4076Val)
c.1180A>G (p.Ile394Val)
c.265+87201A>G (n.265+87201A>G)
n.2645A>G
n.803A>G
n.12239A>G
c.12223A>G (p.Ile4075Val)
c.12145A>G (p.Ile4049Val)
c.9529A>G (p.Ile3177Val)
c.12247A>G (p.Ile4083Val)
c.12244A>G (p.Ile4082Val)
c.12166A>G (p.Ile4056Val)
c.12151A>G (p.Ile4051Val)
c.5365A>G (p.Ile1789Val)
c.5344A>G (p.Ile1782Val)
n.12242A>G
 dbSNP gnomAD v2 gnomAD v4
5g.90763410A>TCA360378291ADGRV1c.12226A>T (p.Ile4076Leu)
c.1180A>T (p.Ile394Leu)
c.265+87201A>T (n.265+87201A>T)
n.2645A>T
n.803A>T
n.12239A>T
c.12223A>T (p.Ile4075Leu)
c.12145A>T (p.Ile4049Leu)
c.9529A>T (p.Ile3177Leu)
c.12247A>T (p.Ile4083Leu)
c.12244A>T (p.Ile4082Leu)
c.12166A>T (p.Ile4056Leu)
c.12151A>T (p.Ile4051Leu)
c.5365A>T (p.Ile1789Leu)
c.5344A>T (p.Ile1782Leu)
n.12242A>T
5g.90763410_90763411delinsGTAGATGAGAGTAGATGCA2695204644ADGRV1c.12226_12227delinsGTAGATGAGAGTAGATG (p.Ile4076ValfsTer6)
c.1180_1181delinsGTAGATGAGAGTAGATG (p.Ile394ValfsTer6)
c.265+87201_265+87202delinsGTAGATGAGAGTAGATG (n.265+87201_265+87202delinsGTAGATGAGAGTAGATG)
n.2645_2646delinsGTAGATGAGAGTAGATG
n.803_804delinsGTAGATGAGAGTAGATG
n.12239_12240delinsGTAGATGAGAGTAGATG
c.12223_12224delinsGTAGATGAGAGTAGATG (p.Ile4075ValfsTer6)
c.12145_12146delinsGTAGATGAGAGTAGATG (p.Ile4049ValfsTer6)
c.9529_9530delinsGTAGATGAGAGTAGATG (p.Ile3177ValfsTer6)
c.12247_12248delinsGTAGATGAGAGTAGATG (p.Ile4083ValfsTer6)
c.12244_12245delinsGTAGATGAGAGTAGATG (p.Ile4082ValfsTer6)
c.12166_12167delinsGTAGATGAGAGTAGATG (p.Ile4056ValfsTer6)
c.12151_12152delinsGTAGATGAGAGTAGATG (p.Ile4051ValfsTer6)
c.5365_5366delinsGTAGATGAGAGTAGATG (p.Ile1789ValfsTer6)
c.5344_5345delinsGTAGATGAGAGTAGATG (p.Ile1782ValfsTer6)
n.12242_12243delinsGTAGATGAGAGTAGATG
 ClinVar
5g.90763411T>ACA360378295ADGRV1c.12227T>A (p.Ile4076Lys)
c.1181T>A (p.Ile394Lys)
c.265+87202T>A (n.265+87202T>A)
n.2646T>A
n.804T>A
n.12240T>A
c.12224T>A (p.Ile4075Lys)
c.12146T>A (p.Ile4049Lys)
c.9530T>A (p.Ile3177Lys)
c.12248T>A (p.Ile4083Lys)
c.12245T>A (p.Ile4082Lys)
c.12167T>A (p.Ile4056Lys)
c.12152T>A (p.Ile4051Lys)
c.5366T>A (p.Ile1789Lys)
c.5345T>A (p.Ile1782Lys)
n.12243T>A
5g.90763411T>CCA360378296ADGRV1c.12227T>C (p.Ile4076Thr)
c.1181T>C (p.Ile394Thr)
c.265+87202T>C (n.265+87202T>C)
n.2646T>C
n.804T>C
n.12240T>C
c.12224T>C (p.Ile4075Thr)
c.12146T>C (p.Ile4049Thr)
c.9530T>C (p.Ile3177Thr)
c.12248T>C (p.Ile4083Thr)
c.12245T>C (p.Ile4082Thr)
c.12167T>C (p.Ile4056Thr)
c.12152T>C (p.Ile4051Thr)
c.5366T>C (p.Ile1789Thr)
c.5345T>C (p.Ile1782Thr)
n.12243T>C
 gnomAD v4
5g.90763411T>GCA360378300ADGRV1c.12227T>G (p.Ile4076Arg)
c.1181T>G (p.Ile394Arg)
c.265+87202T>G (n.265+87202T>G)
n.2646T>G
n.804T>G
n.12240T>G
c.12224T>G (p.Ile4075Arg)
c.12146T>G (p.Ile4049Arg)
c.9530T>G (p.Ile3177Arg)
c.12248T>G (p.Ile4083Arg)
c.12245T>G (p.Ile4082Arg)
c.12167T>G (p.Ile4056Arg)
c.12152T>G (p.Ile4051Arg)
c.5366T>G (p.Ile1789Arg)
c.5345T>G (p.Ile1782Arg)
n.12243T>G
5g.90763411_90763412insGAGAGTAGATGCA2674574512ADGRV1c.12227_12228insGAGAGTAGATG (p.Ile4076MetfsTer16)
c.1181_1182insGAGAGTAGATG (p.Ile394MetfsTer16)
c.265+87202_265+87203insGAGAGTAGATG (n.265+87202_265+87203insGAGAGTAGATG)
n.2646_2647insGAGAGTAGATG
n.804_805insGAGAGTAGATG
n.12240_12241insGAGAGTAGATG
c.12224_12225insGAGAGTAGATG (p.Ile4075MetfsTer16)
c.12146_12147insGAGAGTAGATG (p.Ile4049MetfsTer16)
c.9530_9531insGAGAGTAGATG (p.Ile3177MetfsTer16)
c.12248_12249insGAGAGTAGATG (p.Ile4083MetfsTer16)
c.12245_12246insGAGAGTAGATG (p.Ile4082MetfsTer16)
c.12167_12168insGAGAGTAGATG (p.Ile4056MetfsTer16)
c.12152_12153insGAGAGTAGATG (p.Ile4051MetfsTer16)
c.5366_5367insGAGAGTAGATG (p.Ile1789MetfsTer16)
c.5345_5346insGAGAGTAGATG (p.Ile1782MetfsTer16)
n.12243_12244insGAGAGTAGATG
 gnomAD v4
5g.90763412A=CA1562889911ADGRV1c.12228A= (p.Ile4076=)
c.1182A= (p.Ile394=)
c.265+87203A= (n.265+87203A=)
n.2647A=
n.805A=
n.12241A=
c.12225A= (p.Ile4075=)
c.12147A= (p.Ile4049=)
c.9531A= (p.Ile3177=)
c.12249A= (p.Ile4083=)
c.12246A= (p.Ile4082=)
c.12168A= (p.Ile4056=)
c.12153A= (p.Ile4051=)
c.5367A= (p.Ile1789=)
c.5346A= (p.Ile1782=)
n.12244A=
5g.90763412A>CCA445406851ADGRV1c.12228A>C (p.Ile4076=)
c.1182A>C (p.Ile394=)
c.265+87203A>C (n.265+87203A>C)
n.2647A>C
n.805A>C
n.12241A>C
c.12225A>C (p.Ile4075=)
c.12147A>C (p.Ile4049=)
c.9531A>C (p.Ile3177=)
c.12249A>C (p.Ile4083=)
c.12246A>C (p.Ile4082=)
c.12168A>C (p.Ile4056=)
c.12153A>C (p.Ile4051=)
c.5367A>C (p.Ile1789=)
c.5346A>C (p.Ile1782=)
n.12244A>C
 gnomAD v4
5g.90763412A>GCA360378308ADGRV1c.12228A>G (p.Ile4076Met)
c.1182A>G (p.Ile394Met)
c.265+87203A>G (n.265+87203A>G)
n.2647A>G
n.805A>G
n.12241A>G
c.12225A>G (p.Ile4075Met)
c.12147A>G (p.Ile4049Met)
c.9531A>G (p.Ile3177Met)
c.12249A>G (p.Ile4083Met)
c.12246A>G (p.Ile4082Met)
c.12168A>G (p.Ile4056Met)
c.12153A>G (p.Ile4051Met)
c.5367A>G (p.Ile1789Met)
c.5346A>G (p.Ile1782Met)
n.12244A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90763412A>TCA445406853ADGRV1c.12228A>T (p.Ile4076=)
c.1182A>T (p.Ile394=)
c.265+87203A>T (n.265+87203A>T)
n.2647A>T
n.805A>T
n.12241A>T
c.12225A>T (p.Ile4075=)
c.12147A>T (p.Ile4049=)
c.9531A>T (p.Ile3177=)
c.12249A>T (p.Ile4083=)
c.12246A>T (p.Ile4082=)
c.12168A>T (p.Ile4056=)
c.12153A>T (p.Ile4051=)
c.5367A>T (p.Ile1789=)
c.5346A>T (p.Ile1782=)
n.12244A>T
5g.90763413G>ACA360378335ADGRV1c.12229G>A (p.Asp4077Asn)
c.1183G>A (p.Asp395Asn)
c.265+87204G>A (n.265+87204G>A)
n.2648G>A
n.806G>A
n.12242G>A
c.12226G>A (p.Asp4076Asn)
c.12148G>A (p.Asp4050Asn)
c.9532G>A (p.Asp3178Asn)
c.12250G>A (p.Asp4084Asn)
c.12247G>A (p.Asp4083Asn)
c.12169G>A (p.Asp4057Asn)
c.12154G>A (p.Asp4052Asn)
c.5368G>A (p.Asp1790Asn)
c.5347G>A (p.Asp1783Asn)
n.12245G>A
5g.90763413G>CCA360378345ADGRV1c.12229G>C (p.Asp4077His)
c.1183G>C (p.Asp395His)
c.265+87204G>C (n.265+87204G>C)
n.2648G>C
n.806G>C
n.12242G>C
c.12226G>C (p.Asp4076His)
c.12148G>C (p.Asp4050His)
c.9532G>C (p.Asp3178His)
c.12250G>C (p.Asp4084His)
c.12247G>C (p.Asp4083His)
c.12169G>C (p.Asp4057His)
c.12154G>C (p.Asp4052His)
c.5368G>C (p.Asp1790His)
c.5347G>C (p.Asp1783His)
n.12245G>C
 COSMIC
5g.90763413G>TCA360378356ADGRV1c.12229G>T (p.Asp4077Tyr)
c.1183G>T (p.Asp395Tyr)
c.265+87204G>T (n.265+87204G>T)
n.2648G>T
n.806G>T
n.12242G>T
c.12226G>T (p.Asp4076Tyr)
c.12148G>T (p.Asp4050Tyr)
c.9532G>T (p.Asp3178Tyr)
c.12250G>T (p.Asp4084Tyr)
c.12247G>T (p.Asp4083Tyr)
c.12169G>T (p.Asp4057Tyr)
c.12154G>T (p.Asp4052Tyr)
c.5368G>T (p.Asp1790Tyr)
c.5347G>T (p.Asp1783Tyr)
n.12245G>T
5g.90763414A>CCA360378357ADGRV1c.12230A>C (p.Asp4077Ala)
c.1184A>C (p.Asp395Ala)
c.265+87205A>C (n.265+87205A>C)
n.2649A>C
n.807A>C
n.12243A>C
c.12227A>C (p.Asp4076Ala)
c.12149A>C (p.Asp4050Ala)
c.9533A>C (p.Asp3178Ala)
c.12251A>C (p.Asp4084Ala)
c.12248A>C (p.Asp4083Ala)
c.12170A>C (p.Asp4057Ala)
c.12155A>C (p.Asp4052Ala)
c.5369A>C (p.Asp1790Ala)
c.5348A>C (p.Asp1783Ala)
n.12246A>C
5g.90763414A>GCA360378358ADGRV1c.12230A>G (p.Asp4077Gly)
c.1184A>G (p.Asp395Gly)
c.265+87205A>G (n.265+87205A>G)
n.2649A>G
n.807A>G
n.12243A>G
c.12227A>G (p.Asp4076Gly)
c.12149A>G (p.Asp4050Gly)
c.9533A>G (p.Asp3178Gly)
c.12251A>G (p.Asp4084Gly)
c.12248A>G (p.Asp4083Gly)
c.12170A>G (p.Asp4057Gly)
c.12155A>G (p.Asp4052Gly)
c.5369A>G (p.Asp1790Gly)
c.5348A>G (p.Asp1783Gly)
n.12246A>G
5g.90763414A>TCA360378360ADGRV1c.12230A>T (p.Asp4077Val)
c.1184A>T (p.Asp395Val)
c.265+87205A>T (n.265+87205A>T)
n.2649A>T
n.807A>T
n.12243A>T
c.12227A>T (p.Asp4076Val)
c.12149A>T (p.Asp4050Val)
c.9533A>T (p.Asp3178Val)
c.12251A>T (p.Asp4084Val)
c.12248A>T (p.Asp4083Val)
c.12170A>T (p.Asp4057Val)
c.12155A>T (p.Asp4052Val)
c.5369A>T (p.Asp1790Val)
c.5348A>T (p.Asp1783Val)
n.12246A>T
5g.90763415T>ACA360378387ADGRV1c.12231T>A (p.Asp4077Glu)
c.1185T>A (p.Asp395Glu)
c.265+87206T>A (n.265+87206T>A)
n.2650T>A
n.808T>A
n.12244T>A
c.12228T>A (p.Asp4076Glu)
c.12150T>A (p.Asp4050Glu)
c.9534T>A (p.Asp3178Glu)
c.12252T>A (p.Asp4084Glu)
c.12249T>A (p.Asp4083Glu)
c.12171T>A (p.Asp4057Glu)
c.12156T>A (p.Asp4052Glu)
c.5370T>A (p.Asp1790Glu)
c.5349T>A (p.Asp1783Glu)
n.12247T>A
5g.90763415T>CCA122800401ADGRV1c.12231T>C (p.Asp4077=)
c.1185T>C (p.Asp395=)
c.265+87206T>C (n.265+87206T>C)
n.2650T>C
n.808T>C
n.12244T>C
c.12228T>C (p.Asp4076=)
c.12150T>C (p.Asp4050=)
c.9534T>C (p.Asp3178=)
c.12252T>C (p.Asp4084=)
c.12249T>C (p.Asp4083=)
c.12171T>C (p.Asp4057=)
c.12156T>C (p.Asp4052=)
c.5370T>C (p.Asp1790=)
c.5349T>C (p.Asp1783=)
n.12247T>C
 dbSNP gnomAD v3 gnomAD v4
5g.90763415T>GCA360378380ADGRV1c.12231T>G (p.Asp4077Glu)
c.1185T>G (p.Asp395Glu)
c.265+87206T>G (n.265+87206T>G)
n.2650T>G
n.808T>G
n.12244T>G
c.12228T>G (p.Asp4076Glu)
c.12150T>G (p.Asp4050Glu)
c.9534T>G (p.Asp3178Glu)
c.12252T>G (p.Asp4084Glu)
c.12249T>G (p.Asp4083Glu)
c.12171T>G (p.Asp4057Glu)
c.12156T>G (p.Asp4052Glu)
c.5370T>G (p.Asp1790Glu)
c.5349T>G (p.Asp1783Glu)
n.12247T>G
5g.90763415T=CA1562889912ADGRV1c.12231T= (p.Asp4077=)
c.1185T= (p.Asp395=)
c.265+87206T= (n.265+87206T=)
n.2650T=
n.808T=
n.12244T=
c.12228T= (p.Asp4076=)
c.12150T= (p.Asp4050=)
c.9534T= (p.Asp3178=)
c.12252T= (p.Asp4084=)
c.12249T= (p.Asp4083=)
c.12171T= (p.Asp4057=)
c.12156T= (p.Asp4052=)
c.5370T= (p.Asp1790=)
c.5349T= (p.Asp1783=)
n.12247T=
5g.90763416G>ACA360378397ADGRV1c.12232G>A (p.Glu4078Lys)
c.1186G>A (p.Glu396Lys)
c.265+87207G>A (n.265+87207G>A)
n.2651G>A
n.809G>A
n.12245G>A
c.12229G>A (p.Glu4077Lys)
c.12151G>A (p.Glu4051Lys)
c.9535G>A (p.Glu3179Lys)
c.12253G>A (p.Glu4085Lys)
c.12250G>A (p.Glu4084Lys)
c.12172G>A (p.Glu4058Lys)
c.12157G>A (p.Glu4053Lys)
c.5371G>A (p.Glu1791Lys)
c.5350G>A (p.Glu1784Lys)
n.12248G>A
5g.90763416G>CCA360378399ADGRV1c.12232G>C (p.Glu4078Gln)
c.1186G>C (p.Glu396Gln)
c.265+87207G>C (n.265+87207G>C)
n.2651G>C
n.809G>C
n.12245G>C
c.12229G>C (p.Glu4077Gln)
c.12151G>C (p.Glu4051Gln)
c.9535G>C (p.Glu3179Gln)
c.12253G>C (p.Glu4085Gln)
c.12250G>C (p.Glu4084Gln)
c.12172G>C (p.Glu4058Gln)
c.12157G>C (p.Glu4053Gln)
c.5371G>C (p.Glu1791Gln)
c.5350G>C (p.Glu1784Gln)
n.12248G>C
5g.90763416G>TCA360378406ADGRV1c.12232G>T (p.Glu4078Ter)
c.1186G>T (p.Glu396Ter)
c.265+87207G>T (n.265+87207G>T)
n.2651G>T
n.809G>T
n.12245G>T
c.12229G>T (p.Glu4077Ter)
c.12151G>T (p.Glu4051Ter)
c.9535G>T (p.Glu3179Ter)
c.12253G>T (p.Glu4085Ter)
c.12250G>T (p.Glu4084Ter)
c.12172G>T (p.Glu4058Ter)
c.12157G>T (p.Glu4053Ter)
c.5371G>T (p.Glu1791Ter)
c.5350G>T (p.Glu1784Ter)
n.12248G>T
5g.90763417A>CCA360378410ADGRV1c.12233A>C (p.Glu4078Ala)
c.1187A>C (p.Glu396Ala)
c.265+87208A>C (n.265+87208A>C)
n.2652A>C
n.810A>C
n.12246A>C
c.12230A>C (p.Glu4077Ala)
c.12152A>C (p.Glu4051Ala)
c.9536A>C (p.Glu3179Ala)
c.12254A>C (p.Glu4085Ala)
c.12251A>C (p.Glu4084Ala)
c.12173A>C (p.Glu4058Ala)
c.12158A>C (p.Glu4053Ala)
c.5372A>C (p.Glu1791Ala)
c.5351A>C (p.Glu1784Ala)
n.12249A>C
5g.90763417A>GCA360378412ADGRV1c.12233A>G (p.Glu4078Gly)
c.1187A>G (p.Glu396Gly)
c.265+87208A>G (n.265+87208A>G)
n.2652A>G
n.810A>G
n.12246A>G
c.12230A>G (p.Glu4077Gly)
c.12152A>G (p.Glu4051Gly)
c.9536A>G (p.Glu3179Gly)
c.12254A>G (p.Glu4085Gly)
c.12251A>G (p.Glu4084Gly)
c.12173A>G (p.Glu4058Gly)
c.12158A>G (p.Glu4053Gly)
c.5372A>G (p.Glu1791Gly)
c.5351A>G (p.Glu1784Gly)
n.12249A>G
5g.90763417A>TCA360378415ADGRV1c.12233A>T (p.Glu4078Val)
c.1187A>T (p.Glu396Val)
c.265+87208A>T (n.265+87208A>T)
n.2652A>T
n.810A>T
n.12246A>T
c.12230A>T (p.Glu4077Val)
c.12152A>T (p.Glu4051Val)
c.9536A>T (p.Glu3179Val)
c.12254A>T (p.Glu4085Val)
c.12251A>T (p.Glu4084Val)
c.12173A>T (p.Glu4058Val)
c.12158A>T (p.Glu4053Val)
c.5372A>T (p.Glu1791Val)
c.5351A>T (p.Glu1784Val)
n.12249A>T
5g.90763418G>ACA445406904ADGRV1c.12234G>A (p.Glu4078=)
c.1188G>A (p.Glu396=)
c.265+87209G>A (n.265+87209G>A)
n.2653G>A
n.811G>A
n.12247G>A
c.12231G>A (p.Glu4077=)
c.12153G>A (p.Glu4051=)
c.9537G>A (p.Glu3179=)
c.12255G>A (p.Glu4085=)
c.12252G>A (p.Glu4084=)
c.12174G>A (p.Glu4058=)
c.12159G>A (p.Glu4053=)
c.5373G>A (p.Glu1791=)
c.5352G>A (p.Glu1784=)
n.12250G>A
5g.90763418G>CCA360378420ADGRV1c.12234G>C (p.Glu4078Asp)
c.1188G>C (p.Glu396Asp)
c.265+87209G>C (n.265+87209G>C)
n.2653G>C
n.811G>C
n.12247G>C
c.12231G>C (p.Glu4077Asp)
c.12153G>C (p.Glu4051Asp)
c.9537G>C (p.Glu3179Asp)
c.12255G>C (p.Glu4085Asp)
c.12252G>C (p.Glu4084Asp)
c.12174G>C (p.Glu4058Asp)
c.12159G>C (p.Glu4053Asp)
c.5373G>C (p.Glu1791Asp)
c.5352G>C (p.Glu1784Asp)
n.12250G>C
5g.90763418G>TCA360378423ADGRV1c.12234G>T (p.Glu4078Asp)
c.1188G>T (p.Glu396Asp)
c.265+87209G>T (n.265+87209G>T)
n.2653G>T
n.811G>T
n.12247G>T
c.12231G>T (p.Glu4077Asp)
c.12153G>T (p.Glu4051Asp)
c.9537G>T (p.Glu3179Asp)
c.12255G>T (p.Glu4085Asp)
c.12252G>T (p.Glu4084Asp)
c.12174G>T (p.Glu4058Asp)
c.12159G>T (p.Glu4053Asp)
c.5373G>T (p.Glu1791Asp)
c.5352G>T (p.Glu1784Asp)
n.12250G>T
5g.90763419A=CA1562889913ADGRV1c.12235A= (p.Lys4079=)
c.1189A= (p.Lys397=)
c.265+87210A= (n.265+87210A=)
n.2654A=
n.812A=
n.12248A=
c.12232A= (p.Lys4078=)
c.12154A= (p.Lys4052=)
c.9538A= (p.Lys3180=)
c.12256A= (p.Lys4086=)
c.12253A= (p.Lys4085=)
c.12175A= (p.Lys4059=)
c.12160A= (p.Lys4054=)
c.5374A= (p.Lys1792=)
c.5353A= (p.Lys1785=)
n.12251A=
5g.90763419A>CCA360378427ADGRV1c.12235A>C (p.Lys4079Gln)
c.1189A>C (p.Lys397Gln)
c.265+87210A>C (n.265+87210A>C)
n.2654A>C
n.812A>C
n.12248A>C
c.12232A>C (p.Lys4078Gln)
c.12154A>C (p.Lys4052Gln)
c.9538A>C (p.Lys3180Gln)
c.12256A>C (p.Lys4086Gln)
c.12253A>C (p.Lys4085Gln)
c.12175A>C (p.Lys4059Gln)
c.12160A>C (p.Lys4054Gln)
c.5374A>C (p.Lys1792Gln)
c.5353A>C (p.Lys1785Gln)
n.12251A>C
5g.90763419A>GCA3341177ADGRV1c.12235A>G (p.Lys4079Glu)
c.1189A>G (p.Lys397Glu)
c.265+87210A>G (n.265+87210A>G)
n.2654A>G
n.812A>G
n.12248A>G
c.12232A>G (p.Lys4078Glu)
c.12154A>G (p.Lys4052Glu)
c.9538A>G (p.Lys3180Glu)
c.12256A>G (p.Lys4086Glu)
c.12253A>G (p.Lys4085Glu)
c.12175A>G (p.Lys4059Glu)
c.12160A>G (p.Lys4054Glu)
c.5374A>G (p.Lys1792Glu)
c.5353A>G (p.Lys1785Glu)
n.12251A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763419A>TCA360378432ADGRV1c.12235A>T (p.Lys4079Ter)
c.1189A>T (p.Lys397Ter)
c.265+87210A>T (n.265+87210A>T)
n.2654A>T
n.812A>T
n.12248A>T
c.12232A>T (p.Lys4078Ter)
c.12154A>T (p.Lys4052Ter)
c.9538A>T (p.Lys3180Ter)
c.12256A>T (p.Lys4086Ter)
c.12253A>T (p.Lys4085Ter)
c.12175A>T (p.Lys4059Ter)
c.12160A>T (p.Lys4054Ter)
c.5374A>T (p.Lys1792Ter)
c.5353A>T (p.Lys1785Ter)
n.12251A>T
5g.90763420A>CCA360378434ADGRV1c.12236A>C (p.Lys4079Thr)
c.1190A>C (p.Lys397Thr)
c.265+87211A>C (n.265+87211A>C)
n.2655A>C
n.813A>C
n.12249A>C
c.12233A>C (p.Lys4078Thr)
c.12155A>C (p.Lys4052Thr)
c.9539A>C (p.Lys3180Thr)
c.12257A>C (p.Lys4086Thr)
c.12254A>C (p.Lys4085Thr)
c.12176A>C (p.Lys4059Thr)
c.12161A>C (p.Lys4054Thr)
c.5375A>C (p.Lys1792Thr)
c.5354A>C (p.Lys1785Thr)
n.12252A>C
5g.90763420A>GCA360378455ADGRV1c.12236A>G (p.Lys4079Arg)
c.1190A>G (p.Lys397Arg)
c.265+87211A>G (n.265+87211A>G)
n.2655A>G
n.813A>G
n.12249A>G
c.12233A>G (p.Lys4078Arg)
c.12155A>G (p.Lys4052Arg)
c.9539A>G (p.Lys3180Arg)
c.12257A>G (p.Lys4086Arg)
c.12254A>G (p.Lys4085Arg)
c.12176A>G (p.Lys4059Arg)
c.12161A>G (p.Lys4054Arg)
c.5375A>G (p.Lys1792Arg)
c.5354A>G (p.Lys1785Arg)
n.12252A>G
 gnomAD v4
5g.90763420A>TCA360378462ADGRV1c.12236A>T (p.Lys4079Met)
c.1190A>T (p.Lys397Met)
c.265+87211A>T (n.265+87211A>T)
n.2655A>T
n.813A>T
n.12249A>T
c.12233A>T (p.Lys4078Met)
c.12155A>T (p.Lys4052Met)
c.9539A>T (p.Lys3180Met)
c.12257A>T (p.Lys4086Met)
c.12254A>T (p.Lys4085Met)
c.12176A>T (p.Lys4059Met)
c.12161A>T (p.Lys4054Met)
c.5375A>T (p.Lys1792Met)
c.5354A>T (p.Lys1785Met)
n.12252A>T
5g.90763421G>ACA445406922ADGRV1c.12237G>A (p.Lys4079=)
c.1191G>A (p.Lys397=)
c.265+87212G>A (n.265+87212G>A)
n.2656G>A
n.814G>A
n.12250G>A
c.12234G>A (p.Lys4078=)
c.12156G>A (p.Lys4052=)
c.9540G>A (p.Lys3180=)
c.12258G>A (p.Lys4086=)
c.12255G>A (p.Lys4085=)
c.12177G>A (p.Lys4059=)
c.12162G>A (p.Lys4054=)
c.5376G>A (p.Lys1792=)
c.5355G>A (p.Lys1785=)
n.12253G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90763421G>CCA360378471ADGRV1c.12237G>C (p.Lys4079Asn)
c.1191G>C (p.Lys397Asn)
c.265+87212G>C (n.265+87212G>C)
n.2656G>C
n.814G>C
n.12250G>C
c.12234G>C (p.Lys4078Asn)
c.12156G>C (p.Lys4052Asn)
c.9540G>C (p.Lys3180Asn)
c.12258G>C (p.Lys4086Asn)
c.12255G>C (p.Lys4085Asn)
c.12177G>C (p.Lys4059Asn)
c.12162G>C (p.Lys4054Asn)
c.5376G>C (p.Lys1792Asn)
c.5355G>C (p.Lys1785Asn)
n.12253G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90763421G=CA1562889914ADGRV1c.12237G= (p.Lys4079=)
c.1191G= (p.Lys397=)
c.265+87212G= (n.265+87212G=)
n.2656G=
n.814G=
n.12250G=
c.12234G= (p.Lys4078=)
c.12156G= (p.Lys4052=)
c.9540G= (p.Lys3180=)
c.12258G= (p.Lys4086=)
c.12255G= (p.Lys4085=)
c.12177G= (p.Lys4059=)
c.12162G= (p.Lys4054=)
c.5376G= (p.Lys1792=)
c.5355G= (p.Lys1785=)
n.12253G=
5g.90763421G>TCA360378467ADGRV1c.12237G>T (p.Lys4079Asn)
c.1191G>T (p.Lys397Asn)
c.265+87212G>T (n.265+87212G>T)
n.2656G>T
n.814G>T
n.12250G>T
c.12234G>T (p.Lys4078Asn)
c.12156G>T (p.Lys4052Asn)
c.9540G>T (p.Lys3180Asn)
c.12258G>T (p.Lys4086Asn)
c.12255G>T (p.Lys4085Asn)
c.12177G>T (p.Lys4059Asn)
c.12162G>T (p.Lys4054Asn)
c.5376G>T (p.Lys1792Asn)
c.5355G>T (p.Lys1785Asn)
n.12253G>T
 dbSNP COSMIC
5g.90763422G>ACA360378476ADGRV1c.12238G>A (p.Ala4080Thr)
c.1192G>A (p.Ala398Thr)
c.265+87213G>A (n.265+87213G>A)
n.2657G>A
n.815G>A
n.12251G>A
c.12235G>A (p.Ala4079Thr)
c.12157G>A (p.Ala4053Thr)
c.9541G>A (p.Ala3181Thr)
c.12259G>A (p.Ala4087Thr)
c.12256G>A (p.Ala4086Thr)
c.12178G>A (p.Ala4060Thr)
c.12163G>A (p.Ala4055Thr)
c.5377G>A (p.Ala1793Thr)
c.5356G>A (p.Ala1786Thr)
n.12254G>A
 dbSNP
5g.90763422G>CCA360378478ADGRV1c.12238G>C (p.Ala4080Pro)
c.1192G>C (p.Ala398Pro)
c.265+87213G>C (n.265+87213G>C)
n.2657G>C
n.815G>C
n.12251G>C
c.12235G>C (p.Ala4079Pro)
c.12157G>C (p.Ala4053Pro)
c.9541G>C (p.Ala3181Pro)
c.12259G>C (p.Ala4087Pro)
c.12256G>C (p.Ala4086Pro)
c.12178G>C (p.Ala4060Pro)
c.12163G>C (p.Ala4055Pro)
c.5377G>C (p.Ala1793Pro)
c.5356G>C (p.Ala1786Pro)
n.12254G>C
5g.90763422G=CA1562889915ADGRV1c.12238G= (p.Ala4080=)
c.1192G= (p.Ala398=)
c.265+87213G= (n.265+87213G=)
n.2657G=
n.815G=
n.12251G=
c.12235G= (p.Ala4079=)
c.12157G= (p.Ala4053=)
c.9541G= (p.Ala3181=)
c.12259G= (p.Ala4087=)
c.12256G= (p.Ala4086=)
c.12178G= (p.Ala4060=)
c.12163G= (p.Ala4055=)
c.5377G= (p.Ala1793=)
c.5356G= (p.Ala1786=)
n.12254G=
5g.90763422G>TCA360378480ADGRV1c.12238G>T (p.Ala4080Ser)
c.1192G>T (p.Ala398Ser)
c.265+87213G>T (n.265+87213G>T)
n.2657G>T
n.815G>T
n.12251G>T
c.12235G>T (p.Ala4079Ser)
c.12157G>T (p.Ala4053Ser)
c.9541G>T (p.Ala3181Ser)
c.12259G>T (p.Ala4087Ser)
c.12256G>T (p.Ala4086Ser)
c.12178G>T (p.Ala4060Ser)
c.12163G>T (p.Ala4055Ser)
c.5377G>T (p.Ala1793Ser)
c.5356G>T (p.Ala1786Ser)
n.12254G>T
5g.90763423C>ACA360378483ADGRV1c.12239C>A (p.Ala4080Asp)
c.1193C>A (p.Ala398Asp)
c.265+87214C>A (n.265+87214C>A)
n.2658C>A
n.816C>A
n.12252C>A
c.12236C>A (p.Ala4079Asp)
c.12158C>A (p.Ala4053Asp)
c.9542C>A (p.Ala3181Asp)
c.12260C>A (p.Ala4087Asp)
c.12257C>A (p.Ala4086Asp)
c.12179C>A (p.Ala4060Asp)
c.12164C>A (p.Ala4055Asp)
c.5378C>A (p.Ala1793Asp)
c.5357C>A (p.Ala1786Asp)
n.12255C>A
5g.90763423C>GCA360378487ADGRV1c.12239C>G (p.Ala4080Gly)
c.1193C>G (p.Ala398Gly)
c.265+87214C>G (n.265+87214C>G)
n.2658C>G
n.816C>G
n.12252C>G
c.12236C>G (p.Ala4079Gly)
c.12158C>G (p.Ala4053Gly)
c.9542C>G (p.Ala3181Gly)
c.12260C>G (p.Ala4087Gly)
c.12257C>G (p.Ala4086Gly)
c.12179C>G (p.Ala4060Gly)
c.12164C>G (p.Ala4055Gly)
c.5378C>G (p.Ala1793Gly)
c.5357C>G (p.Ala1786Gly)
n.12255C>G
5g.90763423C>TCA360378488ADGRV1c.12239C>T (p.Ala4080Val)
c.1193C>T (p.Ala398Val)
c.265+87214C>T (n.265+87214C>T)
n.2658C>T
n.816C>T
n.12252C>T
c.12236C>T (p.Ala4079Val)
c.12158C>T (p.Ala4053Val)
c.9542C>T (p.Ala3181Val)
c.12260C>T (p.Ala4087Val)
c.12257C>T (p.Ala4086Val)
c.12179C>T (p.Ala4060Val)
c.12164C>T (p.Ala4055Val)
c.5378C>T (p.Ala1793Val)
c.5357C>T (p.Ala1786Val)
n.12255C>T
5g.90763424T>ACA3341178ADGRV1c.12240T>A (p.Ala4080=)
c.1194T>A (p.Ala398=)
c.265+87215T>A (n.265+87215T>A)
n.2659T>A
n.817T>A
n.12253T>A
c.12237T>A (p.Ala4079=)
c.12159T>A (p.Ala4053=)
c.9543T>A (p.Ala3181=)
c.12261T>A (p.Ala4087=)
c.12258T>A (p.Ala4086=)
c.12180T>A (p.Ala4060=)
c.12165T>A (p.Ala4055=)
c.5379T>A (p.Ala1793=)
c.5358T>A (p.Ala1786=)
n.12256T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763424T>CCA445406940ADGRV1c.12240T>C (p.Ala4080=)
c.1194T>C (p.Ala398=)
c.265+87215T>C (n.265+87215T>C)
n.2659T>C
n.817T>C
n.12253T>C
c.12237T>C (p.Ala4079=)
c.12159T>C (p.Ala4053=)
c.9543T>C (p.Ala3181=)
c.12261T>C (p.Ala4087=)
c.12258T>C (p.Ala4086=)
c.12180T>C (p.Ala4060=)
c.12165T>C (p.Ala4055=)
c.5379T>C (p.Ala1793=)
c.5358T>C (p.Ala1786=)
n.12256T>C
5g.90763424T>GCA445406942ADGRV1c.12240T>G (p.Ala4080=)
c.1194T>G (p.Ala398=)
c.265+87215T>G (n.265+87215T>G)
n.2659T>G
n.817T>G
n.12253T>G
c.12237T>G (p.Ala4079=)
c.12159T>G (p.Ala4053=)
c.9543T>G (p.Ala3181=)
c.12261T>G (p.Ala4087=)
c.12258T>G (p.Ala4086=)
c.12180T>G (p.Ala4060=)
c.12165T>G (p.Ala4055=)
c.5379T>G (p.Ala1793=)
c.5358T>G (p.Ala1786=)
n.12256T>G
5g.90763424T=CA1562889916ADGRV1c.12240T= (p.Ala4080=)
c.1194T= (p.Ala398=)
c.265+87215T= (n.265+87215T=)
n.2659T=
n.817T=
n.12253T=
c.12237T= (p.Ala4079=)
c.12159T= (p.Ala4053=)
c.9543T= (p.Ala3181=)
c.12261T= (p.Ala4087=)
c.12258T= (p.Ala4086=)
c.12180T= (p.Ala4060=)
c.12165T= (p.Ala4055=)
c.5379T= (p.Ala1793=)
c.5358T= (p.Ala1786=)
n.12256T=
5g.90763425A=CA1562889917ADGRV1c.12241A= (p.Lys4081=)
c.1195A= (p.Lys399=)
c.265+87216A= (n.265+87216A=)
n.2660A=
n.818A=
n.12254A=
c.12238A= (p.Lys4080=)
c.12160A= (p.Lys4054=)
c.9544A= (p.Lys3182=)
c.12262A= (p.Lys4088=)
c.12259A= (p.Lys4087=)
c.12181A= (p.Lys4061=)
c.12166A= (p.Lys4056=)
c.5380A= (p.Lys1794=)
c.5359A= (p.Lys1787=)
n.12257A=
5g.90763425A>CCA360378491ADGRV1c.12241A>C (p.Lys4081Gln)
c.1195A>C (p.Lys399Gln)
c.265+87216A>C (n.265+87216A>C)
n.2660A>C
n.818A>C
n.12254A>C
c.12238A>C (p.Lys4080Gln)
c.12160A>C (p.Lys4054Gln)
c.9544A>C (p.Lys3182Gln)
c.12262A>C (p.Lys4088Gln)
c.12259A>C (p.Lys4087Gln)
c.12181A>C (p.Lys4061Gln)
c.12166A>C (p.Lys4056Gln)
c.5380A>C (p.Lys1794Gln)
c.5359A>C (p.Lys1787Gln)
n.12257A>C
5g.90763425A>GCA360378497ADGRV1c.12241A>G (p.Lys4081Glu)
c.1195A>G (p.Lys399Glu)
c.265+87216A>G (n.265+87216A>G)
n.2660A>G
n.818A>G
n.12254A>G
c.12238A>G (p.Lys4080Glu)
c.12160A>G (p.Lys4054Glu)
c.9544A>G (p.Lys3182Glu)
c.12262A>G (p.Lys4088Glu)
c.12259A>G (p.Lys4087Glu)
c.12181A>G (p.Lys4061Glu)
c.12166A>G (p.Lys4056Glu)
c.5380A>G (p.Lys1794Glu)
c.5359A>G (p.Lys1787Glu)
n.12257A>G
 dbSNP gnomAD v4
5g.90763425A>TCA360378509ADGRV1c.12241A>T (p.Lys4081Ter)
c.1195A>T (p.Lys399Ter)
c.265+87216A>T (n.265+87216A>T)
n.2660A>T
n.818A>T
n.12254A>T
c.12238A>T (p.Lys4080Ter)
c.12160A>T (p.Lys4054Ter)
c.9544A>T (p.Lys3182Ter)
c.12262A>T (p.Lys4088Ter)
c.12259A>T (p.Lys4087Ter)
c.12181A>T (p.Lys4061Ter)
c.12166A>T (p.Lys4056Ter)
c.5380A>T (p.Lys1794Ter)
c.5359A>T (p.Lys1787Ter)
n.12257A>T
5g.90763426A>CCA360378511ADGRV1c.12242A>C (p.Lys4081Thr)
c.1196A>C (p.Lys399Thr)
c.265+87217A>C (n.265+87217A>C)
n.2661A>C
n.819A>C
n.12255A>C
c.12239A>C (p.Lys4080Thr)
c.12161A>C (p.Lys4054Thr)
c.9545A>C (p.Lys3182Thr)
c.12263A>C (p.Lys4088Thr)
c.12260A>C (p.Lys4087Thr)
c.12182A>C (p.Lys4061Thr)
c.12167A>C (p.Lys4056Thr)
c.5381A>C (p.Lys1794Thr)
c.5360A>C (p.Lys1787Thr)
n.12258A>C
5g.90763426A>GCA360378512ADGRV1c.12242A>G (p.Lys4081Arg)
c.1196A>G (p.Lys399Arg)
c.265+87217A>G (n.265+87217A>G)
n.2661A>G
n.819A>G
n.12255A>G
c.12239A>G (p.Lys4080Arg)
c.12161A>G (p.Lys4054Arg)
c.9545A>G (p.Lys3182Arg)
c.12263A>G (p.Lys4088Arg)
c.12260A>G (p.Lys4087Arg)
c.12182A>G (p.Lys4061Arg)
c.12167A>G (p.Lys4056Arg)
c.5381A>G (p.Lys1794Arg)
c.5360A>G (p.Lys1787Arg)
n.12258A>G
5g.90763426A>TCA360378522ADGRV1c.12242A>T (p.Lys4081Ile)
c.1196A>T (p.Lys399Ile)
c.265+87217A>T (n.265+87217A>T)
n.2661A>T
n.819A>T
n.12255A>T
c.12239A>T (p.Lys4080Ile)
c.12161A>T (p.Lys4054Ile)
c.9545A>T (p.Lys3182Ile)
c.12263A>T (p.Lys4088Ile)
c.12260A>T (p.Lys4087Ile)
c.12182A>T (p.Lys4061Ile)
c.12167A>T (p.Lys4056Ile)
c.5381A>T (p.Lys1794Ile)
c.5360A>T (p.Lys1787Ile)
n.12258A>T
5g.90763427A=CA1562889918ADGRV1c.12243A= (p.Lys4081=)
c.1197A= (p.Lys399=)
c.265+87218A= (n.265+87218A=)
n.2662A=
n.820A=
n.12256A=
c.12240A= (p.Lys4080=)
c.12162A= (p.Lys4054=)
c.9546A= (p.Lys3182=)
c.12264A= (p.Lys4088=)
c.12261A= (p.Lys4087=)
c.12183A= (p.Lys4061=)
c.12168A= (p.Lys4056=)
c.5382A= (p.Lys1794=)
c.5361A= (p.Lys1787=)
n.12259A=
5g.90763427A>CCA360378545ADGRV1c.12243A>C (p.Lys4081Asn)
c.1197A>C (p.Lys399Asn)
c.265+87218A>C (n.265+87218A>C)
n.2662A>C
n.820A>C
n.12256A>C
c.12240A>C (p.Lys4080Asn)
c.12162A>C (p.Lys4054Asn)
c.9546A>C (p.Lys3182Asn)
c.12264A>C (p.Lys4088Asn)
c.12261A>C (p.Lys4087Asn)
c.12183A>C (p.Lys4061Asn)
c.12168A>C (p.Lys4056Asn)
c.5382A>C (p.Lys1794Asn)
c.5361A>C (p.Lys1787Asn)
n.12259A>C
5g.90763427A>GCA3341179ADGRV1c.12243A>G (p.Lys4081=)
c.1197A>G (p.Lys399=)
c.265+87218A>G (n.265+87218A>G)
n.2662A>G
n.820A>G
n.12256A>G
c.12240A>G (p.Lys4080=)
c.12162A>G (p.Lys4054=)
c.9546A>G (p.Lys3182=)
c.12264A>G (p.Lys4088=)
c.12261A>G (p.Lys4087=)
c.12183A>G (p.Lys4061=)
c.12168A>G (p.Lys4056=)
c.5382A>G (p.Lys1794=)
c.5361A>G (p.Lys1787=)
n.12259A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763427A>TCA360378546ADGRV1c.12243A>T (p.Lys4081Asn)
c.1197A>T (p.Lys399Asn)
c.265+87218A>T (n.265+87218A>T)
n.2662A>T
n.820A>T
n.12256A>T
c.12240A>T (p.Lys4080Asn)
c.12162A>T (p.Lys4054Asn)
c.9546A>T (p.Lys3182Asn)
c.12264A>T (p.Lys4088Asn)
c.12261A>T (p.Lys4087Asn)
c.12183A>T (p.Lys4061Asn)
c.12168A>T (p.Lys4056Asn)
c.5382A>T (p.Lys1794Asn)
c.5361A>T (p.Lys1787Asn)
n.12259A>T
5g.90763428C>ACA360378578ADGRV1c.12244C>A (p.His4082Asn)
c.1198C>A (p.His400Asn)
c.265+87219C>A (n.265+87219C>A)
n.2663C>A
n.821C>A
n.12257C>A
c.12241C>A (p.His4081Asn)
c.12163C>A (p.His4055Asn)
c.9547C>A (p.His3183Asn)
c.12265C>A (p.His4089Asn)
c.12262C>A (p.His4088Asn)
c.12184C>A (p.His4062Asn)
c.12169C>A (p.His4057Asn)
c.5383C>A (p.His1795Asn)
c.5362C>A (p.His1788Asn)
n.12260C>A
5g.90763428C=CA1562889919ADGRV1c.12244C= (p.His4082=)
c.1198C= (p.His400=)
c.265+87219C= (n.265+87219C=)
n.2663C=
n.821C=
n.12257C=
c.12241C= (p.His4081=)
c.12163C= (p.His4055=)
c.9547C= (p.His3183=)
c.12265C= (p.His4089=)
c.12262C= (p.His4088=)
c.12184C= (p.His4062=)
c.12169C= (p.His4057=)
c.5383C= (p.His1795=)
c.5362C= (p.His1788=)
n.12260C=
5g.90763428C>GCA360378598ADGRV1c.12244C>G (p.His4082Asp)
c.1198C>G (p.His400Asp)
c.265+87219C>G (n.265+87219C>G)
n.2663C>G
n.821C>G
n.12257C>G
c.12241C>G (p.His4081Asp)
c.12163C>G (p.His4055Asp)
c.9547C>G (p.His3183Asp)
c.12265C>G (p.His4089Asp)
c.12262C>G (p.His4088Asp)
c.12184C>G (p.His4062Asp)
c.12169C>G (p.His4057Asp)
c.5383C>G (p.His1795Asp)
c.5362C>G (p.His1788Asp)
n.12260C>G
5g.90763428C>TCA3341180ADGRV1c.12244C>T (p.His4082Tyr)
c.1198C>T (p.His400Tyr)
c.265+87219C>T (n.265+87219C>T)
n.2663C>T
n.821C>T
n.12257C>T
c.12241C>T (p.His4081Tyr)
c.12163C>T (p.His4055Tyr)
c.9547C>T (p.His3183Tyr)
c.12265C>T (p.His4089Tyr)
c.12262C>T (p.His4088Tyr)
c.12184C>T (p.His4062Tyr)
c.12169C>T (p.His4057Tyr)
c.5383C>T (p.His1795Tyr)
c.5362C>T (p.His1788Tyr)
n.12260C>T
 ClinVar dbSNP ExAC gnomAD v2
5g.90763429A>CCA360378599ADGRV1c.12245A>C (p.His4082Pro)
c.1199A>C (p.His400Pro)
c.265+87220A>C (n.265+87220A>C)
n.2664A>C
n.822A>C
n.12258A>C
c.12242A>C (p.His4081Pro)
c.12164A>C (p.His4055Pro)
c.9548A>C (p.His3183Pro)
c.12266A>C (p.His4089Pro)
c.12263A>C (p.His4088Pro)
c.12185A>C (p.His4062Pro)
c.12170A>C (p.His4057Pro)
c.5384A>C (p.His1795Pro)
c.5363A>C (p.His1788Pro)
n.12261A>C
5g.90763429A>GCA360378600ADGRV1c.12245A>G (p.His4082Arg)
c.1199A>G (p.His400Arg)
c.265+87220A>G (n.265+87220A>G)
n.2664A>G
n.822A>G
n.12258A>G
c.12242A>G (p.His4081Arg)
c.12164A>G (p.His4055Arg)
c.9548A>G (p.His3183Arg)
c.12266A>G (p.His4089Arg)
c.12263A>G (p.His4088Arg)
c.12185A>G (p.His4062Arg)
c.12170A>G (p.His4057Arg)
c.5384A>G (p.His1795Arg)
c.5363A>G (p.His1788Arg)
n.12261A>G
 gnomAD v4
5g.90763429A>TCA360378601ADGRV1c.12245A>T (p.His4082Leu)
c.1199A>T (p.His400Leu)
c.265+87220A>T (n.265+87220A>T)
n.2664A>T
n.822A>T
n.12258A>T
c.12242A>T (p.His4081Leu)
c.12164A>T (p.His4055Leu)
c.9548A>T (p.His3183Leu)
c.12266A>T (p.His4089Leu)
c.12263A>T (p.His4088Leu)
c.12185A>T (p.His4062Leu)
c.12170A>T (p.His4057Leu)
c.5384A>T (p.His1795Leu)
c.5363A>T (p.His1788Leu)
n.12261A>T
5g.90763430T>ACA360378613ADGRV1c.12246T>A (p.His4082Gln)
c.1200T>A (p.His400Gln)
c.265+87221T>A (n.265+87221T>A)
n.2665T>A
n.823T>A
n.12259T>A
c.12243T>A (p.His4081Gln)
c.12165T>A (p.His4055Gln)
c.9549T>A (p.His3183Gln)
c.12267T>A (p.His4089Gln)
c.12264T>A (p.His4088Gln)
c.12186T>A (p.His4062Gln)
c.12171T>A (p.His4057Gln)
c.5385T>A (p.His1795Gln)
c.5364T>A (p.His1788Gln)
n.12262T>A
5g.90763430T>CCA445406983ADGRV1c.12246T>C (p.His4082=)
c.1200T>C (p.His400=)
c.265+87221T>C (n.265+87221T>C)
n.2665T>C
n.823T>C
n.12259T>C
c.12243T>C (p.His4081=)
c.12165T>C (p.His4055=)
c.9549T>C (p.His3183=)
c.12267T>C (p.His4089=)
c.12264T>C (p.His4088=)
c.12186T>C (p.His4062=)
c.12171T>C (p.His4057=)
c.5385T>C (p.His1795=)
c.5364T>C (p.His1788=)
n.12262T>C
 dbSNP gnomAD v2 gnomAD v4
5g.90763430T>GCA360378621ADGRV1c.12246T>G (p.His4082Gln)
c.1200T>G (p.His400Gln)
c.265+87221T>G (n.265+87221T>G)
n.2665T>G
n.823T>G
n.12259T>G
c.12243T>G (p.His4081Gln)
c.12165T>G (p.His4055Gln)
c.9549T>G (p.His3183Gln)
c.12267T>G (p.His4089Gln)
c.12264T>G (p.His4088Gln)
c.12186T>G (p.His4062Gln)
c.12171T>G (p.His4057Gln)
c.5385T>G (p.His1795Gln)
c.5364T>G (p.His1788Gln)
n.12262T>G
5g.90763430T=CA1562889920ADGRV1c.12246T= (p.His4082=)
c.1200T= (p.His400=)
c.265+87221T= (n.265+87221T=)
n.2665T=
n.823T=
n.12259T=
c.12243T= (p.His4081=)
c.12165T= (p.His4055=)
c.9549T= (p.His3183=)
c.12267T= (p.His4089=)
c.12264T= (p.His4088=)
c.12186T= (p.His4062=)
c.12171T= (p.His4057=)
c.5385T= (p.His1795=)
c.5364T= (p.His1788=)
n.12262T=
5g.90763431A=CA1562889921ADGRV1c.12247A= (p.Asn4083=)
c.1201A= (p.Asn401=)
c.265+87222A= (n.265+87222A=)
n.2666A=
n.824A=
n.12260A=
c.12244A= (p.Asn4082=)
c.12166A= (p.Asn4056=)
c.9550A= (p.Asn3184=)
c.12268A= (p.Asn4090=)
c.12265A= (p.Asn4089=)
c.12187A= (p.Asn4063=)
c.12172A= (p.Asn4058=)
c.5386A= (p.Asn1796=)
c.5365A= (p.Asn1789=)
n.12263A=
5g.90763431A>CCA360378626ADGRV1c.12247A>C (p.Asn4083His)
c.1201A>C (p.Asn401His)
c.265+87222A>C (n.265+87222A>C)
n.2666A>C
n.824A>C
n.12260A>C
c.12244A>C (p.Asn4082His)
c.12166A>C (p.Asn4056His)
c.9550A>C (p.Asn3184His)
c.12268A>C (p.Asn4090His)
c.12265A>C (p.Asn4089His)
c.12187A>C (p.Asn4063His)
c.12172A>C (p.Asn4058His)
c.5386A>C (p.Asn1796His)
c.5365A>C (p.Asn1789His)
n.12263A>C
5g.90763431A>GCA360378637ADGRV1c.12247A>G (p.Asn4083Asp)
c.1201A>G (p.Asn401Asp)
c.265+87222A>G (n.265+87222A>G)
n.2666A>G
n.824A>G
n.12260A>G
c.12244A>G (p.Asn4082Asp)
c.12166A>G (p.Asn4056Asp)
c.9550A>G (p.Asn3184Asp)
c.12268A>G (p.Asn4090Asp)
c.12265A>G (p.Asn4089Asp)
c.12187A>G (p.Asn4063Asp)
c.12172A>G (p.Asn4058Asp)
c.5386A>G (p.Asn1796Asp)
c.5365A>G (p.Asn1789Asp)
n.12263A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90763431A>TCA360378642ADGRV1c.12247A>T (p.Asn4083Tyr)
c.1201A>T (p.Asn401Tyr)
c.265+87222A>T (n.265+87222A>T)
n.2666A>T
n.824A>T
n.12260A>T
c.12244A>T (p.Asn4082Tyr)
c.12166A>T (p.Asn4056Tyr)
c.9550A>T (p.Asn3184Tyr)
c.12268A>T (p.Asn4090Tyr)
c.12265A>T (p.Asn4089Tyr)
c.12187A>T (p.Asn4063Tyr)
c.12172A>T (p.Asn4058Tyr)
c.5386A>T (p.Asn1796Tyr)
c.5365A>T (p.Asn1789Tyr)
n.12263A>T
5g.90763432A>CCA360378651ADGRV1c.12248A>C (p.Asn4083Thr)
c.1202A>C (p.Asn401Thr)
c.265+87223A>C (n.265+87223A>C)
n.2667A>C
n.825A>C
n.12261A>C
c.12245A>C (p.Asn4082Thr)
c.12167A>C (p.Asn4056Thr)
c.9551A>C (p.Asn3184Thr)
c.12269A>C (p.Asn4090Thr)
c.12266A>C (p.Asn4089Thr)
c.12188A>C (p.Asn4063Thr)
c.12173A>C (p.Asn4058Thr)
c.5387A>C (p.Asn1796Thr)
c.5366A>C (p.Asn1789Thr)
n.12264A>C
5g.90763432A>GCA360378653ADGRV1c.12248A>G (p.Asn4083Ser)
c.1202A>G (p.Asn401Ser)
c.265+87223A>G (n.265+87223A>G)
n.2667A>G
n.825A>G
n.12261A>G
c.12245A>G (p.Asn4082Ser)
c.12167A>G (p.Asn4056Ser)
c.9551A>G (p.Asn3184Ser)
c.12269A>G (p.Asn4090Ser)
c.12266A>G (p.Asn4089Ser)
c.12188A>G (p.Asn4063Ser)
c.12173A>G (p.Asn4058Ser)
c.5387A>G (p.Asn1796Ser)
c.5366A>G (p.Asn1789Ser)
n.12264A>G
5g.90763432A>TCA360378661ADGRV1c.12248A>T (p.Asn4083Ile)
c.1202A>T (p.Asn401Ile)
c.265+87223A>T (n.265+87223A>T)
n.2667A>T
n.825A>T
n.12261A>T
c.12245A>T (p.Asn4082Ile)
c.12167A>T (p.Asn4056Ile)
c.9551A>T (p.Asn3184Ile)
c.12269A>T (p.Asn4090Ile)
c.12266A>T (p.Asn4089Ile)
c.12188A>T (p.Asn4063Ile)
c.12173A>T (p.Asn4058Ile)
c.5387A>T (p.Asn1796Ile)
c.5366A>T (p.Asn1789Ile)
n.12264A>T
5g.90763433C>ACA360378702ADGRV1c.12249C>A (p.Asn4083Lys)
c.1203C>A (p.Asn401Lys)
c.265+87224C>A (n.265+87224C>A)
n.2668C>A
n.826C>A
n.12262C>A
c.12246C>A (p.Asn4082Lys)
c.12168C>A (p.Asn4056Lys)
c.9552C>A (p.Asn3184Lys)
c.12270C>A (p.Asn4090Lys)
c.12267C>A (p.Asn4089Lys)
c.12189C>A (p.Asn4063Lys)
c.12174C>A (p.Asn4058Lys)
c.5388C>A (p.Asn1796Lys)
c.5367C>A (p.Asn1789Lys)
n.12265C>A
5g.90763433C>GCA360378686ADGRV1c.12249C>G (p.Asn4083Lys)
c.1203C>G (p.Asn401Lys)
c.265+87224C>G (n.265+87224C>G)
n.2668C>G
n.826C>G
n.12262C>G
c.12246C>G (p.Asn4082Lys)
c.12168C>G (p.Asn4056Lys)
c.9552C>G (p.Asn3184Lys)
c.12270C>G (p.Asn4090Lys)
c.12267C>G (p.Asn4089Lys)
c.12189C>G (p.Asn4063Lys)
c.12174C>G (p.Asn4058Lys)
c.5388C>G (p.Asn1796Lys)
c.5367C>G (p.Asn1789Lys)
n.12265C>G
5g.90763433C>TCA445407008ADGRV1c.12249C>T (p.Asn4083=)
c.1203C>T (p.Asn401=)
c.265+87224C>T (n.265+87224C>T)
n.2668C>T
n.826C>T
n.12262C>T
c.12246C>T (p.Asn4082=)
c.12168C>T (p.Asn4056=)
c.9552C>T (p.Asn3184=)
c.12270C>T (p.Asn4090=)
c.12267C>T (p.Asn4089=)
c.12189C>T (p.Asn4063=)
c.12174C>T (p.Asn4058=)
c.5388C>T (p.Asn1796=)
c.5367C>T (p.Asn1789=)
n.12265C>T
5g.90763434C>ACA360378703ADGRV1c.12250C>A (p.Leu4084Ile)
c.1204C>A (p.Leu402Ile)
c.265+87225C>A (n.265+87225C>A)
n.2669C>A
n.827C>A
n.12263C>A
c.12247C>A (p.Leu4083Ile)
c.12169C>A (p.Leu4057Ile)
c.9553C>A (p.Leu3185Ile)
c.12271C>A (p.Leu4091Ile)
c.12268C>A (p.Leu4090Ile)
c.12190C>A (p.Leu4064Ile)
c.12175C>A (p.Leu4059Ile)
c.5389C>A (p.Leu1797Ile)
c.5368C>A (p.Leu1790Ile)
n.12266C>A
5g.90763434C=CA1562889922ADGRV1c.12250C= (p.Leu4084=)
c.1204C= (p.Leu402=)
c.265+87225C= (n.265+87225C=)
n.2669C=
n.827C=
n.12263C=
c.12247C= (p.Leu4083=)
c.12169C= (p.Leu4057=)
c.9553C= (p.Leu3185=)
c.12271C= (p.Leu4091=)
c.12268C= (p.Leu4090=)
c.12190C= (p.Leu4064=)
c.12175C= (p.Leu4059=)
c.5389C= (p.Leu1797=)
c.5368C= (p.Leu1790=)
n.12266C=
5g.90763434C>GCA360378704ADGRV1c.12250C>G (p.Leu4084Val)
c.1204C>G (p.Leu402Val)
c.265+87225C>G (n.265+87225C>G)
n.2669C>G
n.827C>G
n.12263C>G
c.12247C>G (p.Leu4083Val)
c.12169C>G (p.Leu4057Val)
c.9553C>G (p.Leu3185Val)
c.12271C>G (p.Leu4091Val)
c.12268C>G (p.Leu4090Val)
c.12190C>G (p.Leu4064Val)
c.12175C>G (p.Leu4059Val)
c.5389C>G (p.Leu1797Val)
c.5368C>G (p.Leu1790Val)
n.12266C>G
5g.90763434C>TCA3341181ADGRV1c.12250C>T (p.Leu4084Phe)
c.1204C>T (p.Leu402Phe)
c.265+87225C>T (n.265+87225C>T)
n.2669C>T
n.827C>T
n.12263C>T
c.12247C>T (p.Leu4083Phe)
c.12169C>T (p.Leu4057Phe)
c.9553C>T (p.Leu3185Phe)
c.12271C>T (p.Leu4091Phe)
c.12268C>T (p.Leu4090Phe)
c.12190C>T (p.Leu4064Phe)
c.12175C>T (p.Leu4059Phe)
c.5389C>T (p.Leu1797Phe)
c.5368C>T (p.Leu1790Phe)
n.12266C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763435T>ACA360378719ADGRV1c.12251T>A (p.Leu4084His)
c.1205T>A (p.Leu402His)
c.265+87226T>A (n.265+87226T>A)
n.2670T>A
n.828T>A
n.12264T>A
c.12248T>A (p.Leu4083His)
c.12170T>A (p.Leu4057His)
c.9554T>A (p.Leu3185His)
c.12272T>A (p.Leu4091His)
c.12269T>A (p.Leu4090His)
c.12191T>A (p.Leu4064His)
c.12176T>A (p.Leu4059His)
c.5390T>A (p.Leu1797His)
c.5369T>A (p.Leu1790His)
n.12267T>A
5g.90763435T>CCA360378727ADGRV1c.12251T>C (p.Leu4084Pro)
c.1205T>C (p.Leu402Pro)
c.265+87226T>C (n.265+87226T>C)
n.2670T>C
n.828T>C
n.12264T>C
c.12248T>C (p.Leu4083Pro)
c.12170T>C (p.Leu4057Pro)
c.9554T>C (p.Leu3185Pro)
c.12272T>C (p.Leu4091Pro)
c.12269T>C (p.Leu4090Pro)
c.12191T>C (p.Leu4064Pro)
c.12176T>C (p.Leu4059Pro)
c.5390T>C (p.Leu1797Pro)
c.5369T>C (p.Leu1790Pro)
n.12267T>C
5g.90763435T>GCA360378728ADGRV1c.12251T>G (p.Leu4084Arg)
c.1205T>G (p.Leu402Arg)
c.265+87226T>G (n.265+87226T>G)
n.2670T>G
n.828T>G
n.12264T>G
c.12248T>G (p.Leu4083Arg)
c.12170T>G (p.Leu4057Arg)
c.9554T>G (p.Leu3185Arg)
c.12272T>G (p.Leu4091Arg)
c.12269T>G (p.Leu4090Arg)
c.12191T>G (p.Leu4064Arg)
c.12176T>G (p.Leu4059Arg)
c.5390T>G (p.Leu1797Arg)
c.5369T>G (p.Leu1790Arg)
n.12267T>G
5g.90763436T>ACA445407027ADGRV1c.12252T>A (p.Leu4084=)
c.1206T>A (p.Leu402=)
c.265+87227T>A (n.265+87227T>A)
n.2671T>A
n.829T>A
n.12265T>A
c.12249T>A (p.Leu4083=)
c.12171T>A (p.Leu4057=)
c.9555T>A (p.Leu3185=)
c.12273T>A (p.Leu4091=)
c.12270T>A (p.Leu4090=)
c.12192T>A (p.Leu4064=)
c.12177T>A (p.Leu4059=)
c.5391T>A (p.Leu1797=)
c.5370T>A (p.Leu1790=)
n.12268T>A
5g.90763436T>CCA445407029ADGRV1c.12252T>C (p.Leu4084=)
c.1206T>C (p.Leu402=)
c.265+87227T>C (n.265+87227T>C)
n.2671T>C
n.829T>C
n.12265T>C
c.12249T>C (p.Leu4083=)
c.12171T>C (p.Leu4057=)
c.9555T>C (p.Leu3185=)
c.12273T>C (p.Leu4091=)
c.12270T>C (p.Leu4090=)
c.12192T>C (p.Leu4064=)
c.12177T>C (p.Leu4059=)
c.5391T>C (p.Leu1797=)
c.5370T>C (p.Leu1790=)
n.12268T>C
5g.90763436T>GCA445407031ADGRV1c.12252T>G (p.Leu4084=)
c.1206T>G (p.Leu402=)
c.265+87227T>G (n.265+87227T>G)
n.2671T>G
n.829T>G
n.12265T>G
c.12249T>G (p.Leu4083=)
c.12171T>G (p.Leu4057=)
c.9555T>G (p.Leu3185=)
c.12273T>G (p.Leu4091=)
c.12270T>G (p.Leu4090=)
c.12192T>G (p.Leu4064=)
c.12177T>G (p.Leu4059=)
c.5391T>G (p.Leu1797=)
c.5370T>G (p.Leu1790=)
n.12268T>G
5g.90763437A>CCA360378735ADGRV1c.12253A>C (p.Ser4085Arg)
c.1207A>C (p.Ser403Arg)
c.265+87228A>C (n.265+87228A>C)
n.2672A>C
n.830A>C
n.12266A>C
c.12250A>C (p.Ser4084Arg)
c.12172A>C (p.Ser4058Arg)
c.9556A>C (p.Ser3186Arg)
c.12274A>C (p.Ser4092Arg)
c.12271A>C (p.Ser4091Arg)
c.12193A>C (p.Ser4065Arg)
c.12178A>C (p.Ser4060Arg)
c.5392A>C (p.Ser1798Arg)
c.5371A>C (p.Ser1791Arg)
n.12269A>C
5g.90763437A>GCA360378737ADGRV1c.12253A>G (p.Ser4085Gly)
c.1207A>G (p.Ser403Gly)
c.265+87228A>G (n.265+87228A>G)
n.2672A>G
n.830A>G
n.12266A>G
c.12250A>G (p.Ser4084Gly)
c.12172A>G (p.Ser4058Gly)
c.9556A>G (p.Ser3186Gly)
c.12274A>G (p.Ser4092Gly)
c.12271A>G (p.Ser4091Gly)
c.12193A>G (p.Ser4065Gly)
c.12178A>G (p.Ser4060Gly)
c.5392A>G (p.Ser1798Gly)
c.5371A>G (p.Ser1791Gly)
n.12269A>G
 gnomAD v4
5g.90763437A>TCA360378738ADGRV1c.12253A>T (p.Ser4085Cys)
c.1207A>T (p.Ser403Cys)
c.265+87228A>T (n.265+87228A>T)
n.2672A>T
n.830A>T
n.12266A>T
c.12250A>T (p.Ser4084Cys)
c.12172A>T (p.Ser4058Cys)
c.9556A>T (p.Ser3186Cys)
c.12274A>T (p.Ser4092Cys)
c.12271A>T (p.Ser4091Cys)
c.12193A>T (p.Ser4065Cys)
c.12178A>T (p.Ser4060Cys)
c.5392A>T (p.Ser1798Cys)
c.5371A>T (p.Ser1791Cys)
n.12269A>T
5g.90763438G>ACA360378745ADGRV1c.12254G>A (p.Ser4085Asn)
c.1208G>A (p.Ser403Asn)
c.265+87229G>A (n.265+87229G>A)
n.2673G>A
n.831G>A
n.12267G>A
c.12251G>A (p.Ser4084Asn)
c.12173G>A (p.Ser4058Asn)
c.9557G>A (p.Ser3186Asn)
c.12275G>A (p.Ser4092Asn)
c.12272G>A (p.Ser4091Asn)
c.12194G>A (p.Ser4065Asn)
c.12179G>A (p.Ser4060Asn)
c.5393G>A (p.Ser1798Asn)
c.5372G>A (p.Ser1791Asn)
n.12270G>A
 gnomAD v4
5g.90763438G>CCA360378753ADGRV1c.12254G>C (p.Ser4085Thr)
c.1208G>C (p.Ser403Thr)
c.265+87229G>C (n.265+87229G>C)
n.2673G>C
n.831G>C
n.12267G>C
c.12251G>C (p.Ser4084Thr)
c.12173G>C (p.Ser4058Thr)
c.9557G>C (p.Ser3186Thr)
c.12275G>C (p.Ser4092Thr)
c.12272G>C (p.Ser4091Thr)
c.12194G>C (p.Ser4065Thr)
c.12179G>C (p.Ser4060Thr)
c.5393G>C (p.Ser1798Thr)
c.5372G>C (p.Ser1791Thr)
n.12270G>C
5g.90763438G>TCA360378782ADGRV1c.12254G>T (p.Ser4085Ile)
c.1208G>T (p.Ser403Ile)
c.265+87229G>T (n.265+87229G>T)
n.2673G>T
n.831G>T
n.12267G>T
c.12251G>T (p.Ser4084Ile)
c.12173G>T (p.Ser4058Ile)
c.9557G>T (p.Ser3186Ile)
c.12275G>T (p.Ser4092Ile)
c.12272G>T (p.Ser4091Ile)
c.12194G>T (p.Ser4065Ile)
c.12179G>T (p.Ser4060Ile)
c.5393G>T (p.Ser1798Ile)
c.5372G>T (p.Ser1791Ile)
n.12270G>T
5g.90763439T>ACA360378788ADGRV1c.12255T>A (p.Ser4085Arg)
c.1209T>A (p.Ser403Arg)
c.265+87230T>A (n.265+87230T>A)
n.2674T>A
n.832T>A
n.12268T>A
c.12252T>A (p.Ser4084Arg)
c.12174T>A (p.Ser4058Arg)
c.9558T>A (p.Ser3186Arg)
c.12276T>A (p.Ser4092Arg)
c.12273T>A (p.Ser4091Arg)
c.12195T>A (p.Ser4065Arg)
c.12180T>A (p.Ser4060Arg)
c.5394T>A (p.Ser1798Arg)
c.5373T>A (p.Ser1791Arg)
n.12271T>A
5g.90763439T>CCA445407055ADGRV1c.12255T>C (p.Ser4085=)
c.1209T>C (p.Ser403=)
c.265+87230T>C (n.265+87230T>C)
n.2674T>C
n.832T>C
n.12268T>C
c.12252T>C (p.Ser4084=)
c.12174T>C (p.Ser4058=)
c.9558T>C (p.Ser3186=)
c.12276T>C (p.Ser4092=)
c.12273T>C (p.Ser4091=)
c.12195T>C (p.Ser4065=)
c.12180T>C (p.Ser4060=)
c.5394T>C (p.Ser1798=)
c.5373T>C (p.Ser1791=)
n.12271T>C
5g.90763439T>GCA360378787ADGRV1c.12255T>G (p.Ser4085Arg)
c.1209T>G (p.Ser403Arg)
c.265+87230T>G (n.265+87230T>G)
n.2674T>G
n.832T>G
n.12268T>G
c.12252T>G (p.Ser4084Arg)
c.12174T>G (p.Ser4058Arg)
c.9558T>G (p.Ser3186Arg)
c.12276T>G (p.Ser4092Arg)
c.12273T>G (p.Ser4091Arg)
c.12195T>G (p.Ser4065Arg)
c.12180T>G (p.Ser4060Arg)
c.5394T>G (p.Ser1798Arg)
c.5373T>G (p.Ser1791Arg)
n.12271T>G
 dbSNP gnomAD v2 gnomAD v4
5g.90763439T=CA1562889923ADGRV1c.12255T= (p.Ser4085=)
c.1209T= (p.Ser403=)
c.265+87230T= (n.265+87230T=)
n.2674T=
n.832T=
n.12268T=
c.12252T= (p.Ser4084=)
c.12174T= (p.Ser4058=)
c.9558T= (p.Ser3186=)
c.12276T= (p.Ser4092=)
c.12273T= (p.Ser4091=)
c.12195T= (p.Ser4065=)
c.12180T= (p.Ser4060=)
c.5394T= (p.Ser1798=)
c.5373T= (p.Ser1791=)
n.12271T=
5g.90763440C>ACA360378794ADGRV1c.12256C>A (p.Pro4086Thr)
c.1210C>A (p.Pro404Thr)
c.265+87231C>A (n.265+87231C>A)
n.2675C>A
n.833C>A
n.12269C>A
c.12253C>A (p.Pro4085Thr)
c.12175C>A (p.Pro4059Thr)
c.9559C>A (p.Pro3187Thr)
c.12277C>A (p.Pro4093Thr)
c.12274C>A (p.Pro4092Thr)
c.12196C>A (p.Pro4066Thr)
c.12181C>A (p.Pro4061Thr)
c.5395C>A (p.Pro1799Thr)
c.5374C>A (p.Pro1792Thr)
n.12272C>A
5g.90763440C>GCA360378796ADGRV1c.12256C>G (p.Pro4086Ala)
c.1210C>G (p.Pro404Ala)
c.265+87231C>G (n.265+87231C>G)
n.2675C>G
n.833C>G
n.12269C>G
c.12253C>G (p.Pro4085Ala)
c.12175C>G (p.Pro4059Ala)
c.9559C>G (p.Pro3187Ala)
c.12277C>G (p.Pro4093Ala)
c.12274C>G (p.Pro4092Ala)
c.12196C>G (p.Pro4066Ala)
c.12181C>G (p.Pro4061Ala)
c.5395C>G (p.Pro1799Ala)
c.5374C>G (p.Pro1792Ala)
n.12272C>G
5g.90763440C>TCA360378799ADGRV1c.12256C>T (p.Pro4086Ser)
c.1210C>T (p.Pro404Ser)
c.265+87231C>T (n.265+87231C>T)
n.2675C>T
n.833C>T
n.12269C>T
c.12253C>T (p.Pro4085Ser)
c.12175C>T (p.Pro4059Ser)
c.9559C>T (p.Pro3187Ser)
c.12277C>T (p.Pro4093Ser)
c.12274C>T (p.Pro4092Ser)
c.12196C>T (p.Pro4066Ser)
c.12181C>T (p.Pro4061Ser)
c.5395C>T (p.Pro1799Ser)
c.5374C>T (p.Pro1792Ser)
n.12272C>T
 COSMIC
5g.90763441C>ACA360378808ADGRV1c.12257C>A (p.Pro4086His)
c.1211C>A (p.Pro404His)
c.265+87232C>A (n.265+87232C>A)
n.2676C>A
n.834C>A
n.12270C>A
c.12254C>A (p.Pro4085His)
c.12176C>A (p.Pro4059His)
c.9560C>A (p.Pro3187His)
c.12278C>A (p.Pro4093His)
c.12275C>A (p.Pro4092His)
c.12197C>A (p.Pro4066His)
c.12182C>A (p.Pro4061His)
c.5396C>A (p.Pro1799His)
c.5375C>A (p.Pro1792His)
n.12273C>A
5g.90763441C=CA1562889924ADGRV1c.12257C= (p.Pro4086=)
c.1211C= (p.Pro404=)
c.265+87232C= (n.265+87232C=)
n.2676C=
n.834C=
n.12270C=
c.12254C= (p.Pro4085=)
c.12176C= (p.Pro4059=)
c.9560C= (p.Pro3187=)
c.12278C= (p.Pro4093=)
c.12275C= (p.Pro4092=)
c.12197C= (p.Pro4066=)
c.12182C= (p.Pro4061=)
c.5396C= (p.Pro1799=)
c.5375C= (p.Pro1792=)
n.12273C=
5g.90763441C>GCA3341182ADGRV1c.12257C>G (p.Pro4086Arg)
c.1211C>G (p.Pro404Arg)
c.265+87232C>G (n.265+87232C>G)
n.2676C>G
n.834C>G
n.12270C>G
c.12254C>G (p.Pro4085Arg)
c.12176C>G (p.Pro4059Arg)
c.9560C>G (p.Pro3187Arg)
c.12278C>G (p.Pro4093Arg)
c.12275C>G (p.Pro4092Arg)
c.12197C>G (p.Pro4066Arg)
c.12182C>G (p.Pro4061Arg)
c.5396C>G (p.Pro1799Arg)
c.5375C>G (p.Pro1792Arg)
n.12273C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763441C>TCA360378819ADGRV1c.12257C>T (p.Pro4086Leu)
c.1211C>T (p.Pro404Leu)
c.265+87232C>T (n.265+87232C>T)
n.2676C>T
n.834C>T
n.12270C>T
c.12254C>T (p.Pro4085Leu)
c.12176C>T (p.Pro4059Leu)
c.9560C>T (p.Pro3187Leu)
c.12278C>T (p.Pro4093Leu)
c.12275C>T (p.Pro4092Leu)
c.12197C>T (p.Pro4066Leu)
c.12182C>T (p.Pro4061Leu)
c.5396C>T (p.Pro1799Leu)
c.5375C>T (p.Pro1792Leu)
n.12273C>T
5g.90763442T>ACA445407069ADGRV1c.12258T>A (p.Pro4086=)
c.1212T>A (p.Pro404=)
c.265+87233T>A (n.265+87233T>A)
n.2677T>A
n.835T>A
n.12271T>A
c.12255T>A (p.Pro4085=)
c.12177T>A (p.Pro4059=)
c.9561T>A (p.Pro3187=)
c.12279T>A (p.Pro4093=)
c.12276T>A (p.Pro4092=)
c.12198T>A (p.Pro4066=)
c.12183T>A (p.Pro4061=)
c.5397T>A (p.Pro1799=)
c.5376T>A (p.Pro1792=)
n.12274T>A
5g.90763442T>CCA445407072ADGRV1c.12258T>C (p.Pro4086=)
c.1212T>C (p.Pro404=)
c.265+87233T>C (n.265+87233T>C)
n.2677T>C
n.835T>C
n.12271T>C
c.12255T>C (p.Pro4085=)
c.12177T>C (p.Pro4059=)
c.9561T>C (p.Pro3187=)
c.12279T>C (p.Pro4093=)
c.12276T>C (p.Pro4092=)
c.12198T>C (p.Pro4066=)
c.12183T>C (p.Pro4061=)
c.5397T>C (p.Pro1799=)
c.5376T>C (p.Pro1792=)
n.12274T>C
5g.90763442T>GCA445407074ADGRV1c.12258T>G (p.Pro4086=)
c.1212T>G (p.Pro404=)
c.265+87233T>G (n.265+87233T>G)
n.2677T>G
n.835T>G
n.12271T>G
c.12255T>G (p.Pro4085=)
c.12177T>G (p.Pro4059=)
c.9561T>G (p.Pro3187=)
c.12279T>G (p.Pro4093=)
c.12276T>G (p.Pro4092=)
c.12198T>G (p.Pro4066=)
c.12183T>G (p.Pro4061=)
c.5397T>G (p.Pro1799=)
c.5376T>G (p.Pro1792=)
n.12274T>G
5g.90763443T>ACA360378828ADGRV1c.12259T>A (p.Leu4087Met)
c.1213T>A (p.Leu405Met)
c.265+87234T>A (n.265+87234T>A)
n.2678T>A
n.836T>A
n.12272T>A
c.12256T>A (p.Leu4086Met)
c.12178T>A (p.Leu4060Met)
c.9562T>A (p.Leu3188Met)
c.12280T>A (p.Leu4094Met)
c.12277T>A (p.Leu4093Met)
c.12199T>A (p.Leu4067Met)
c.12184T>A (p.Leu4062Met)
c.5398T>A (p.Leu1800Met)
c.5377T>A (p.Leu1793Met)
n.12275T>A
5g.90763443T>CCA445407079ADGRV1c.12259T>C (p.Leu4087=)
c.1213T>C (p.Leu405=)
c.265+87234T>C (n.265+87234T>C)
n.2678T>C
n.836T>C
n.12272T>C
c.12256T>C (p.Leu4086=)
c.12178T>C (p.Leu4060=)
c.9562T>C (p.Leu3188=)
c.12280T>C (p.Leu4094=)
c.12277T>C (p.Leu4093=)
c.12199T>C (p.Leu4067=)
c.12184T>C (p.Leu4062=)
c.5398T>C (p.Leu1800=)
c.5377T>C (p.Leu1793=)
n.12275T>C
5g.90763443T>GCA360378847ADGRV1c.12259T>G (p.Leu4087Val)
c.1213T>G (p.Leu405Val)
c.265+87234T>G (n.265+87234T>G)
n.2678T>G
n.836T>G
n.12272T>G
c.12256T>G (p.Leu4086Val)
c.12178T>G (p.Leu4060Val)
c.9562T>G (p.Leu3188Val)
c.12280T>G (p.Leu4094Val)
c.12277T>G (p.Leu4093Val)
c.12199T>G (p.Leu4067Val)
c.12184T>G (p.Leu4062Val)
c.5398T>G (p.Leu1800Val)
c.5377T>G (p.Leu1793Val)
n.12275T>G
5g.90763444T>ACA360378852ADGRV1c.12260T>A (p.Leu4087Ter)
c.1214T>A (p.Leu405Ter)
c.265+87235T>A (n.265+87235T>A)
n.2679T>A
n.837T>A
n.12273T>A
c.12257T>A (p.Leu4086Ter)
c.12179T>A (p.Leu4060Ter)
c.9563T>A (p.Leu3188Ter)
c.12281T>A (p.Leu4094Ter)
c.12278T>A (p.Leu4093Ter)
c.12200T>A (p.Leu4067Ter)
c.12185T>A (p.Leu4062Ter)
c.5399T>A (p.Leu1800Ter)
c.5378T>A (p.Leu1793Ter)
n.12276T>A
5g.90763444T>CCA360378853ADGRV1c.12260T>C (p.Leu4087Ser)
c.1214T>C (p.Leu405Ser)
c.265+87235T>C (n.265+87235T>C)
n.2679T>C
n.837T>C
n.12273T>C
c.12257T>C (p.Leu4086Ser)
c.12179T>C (p.Leu4060Ser)
c.9563T>C (p.Leu3188Ser)
c.12281T>C (p.Leu4094Ser)
c.12278T>C (p.Leu4093Ser)
c.12200T>C (p.Leu4067Ser)
c.12185T>C (p.Leu4062Ser)
c.5399T>C (p.Leu1800Ser)
c.5378T>C (p.Leu1793Ser)
n.12276T>C
5g.90763444T>GCA360378854ADGRV1c.12260T>G (p.Leu4087Trp)
c.1214T>G (p.Leu405Trp)
c.265+87235T>G (n.265+87235T>G)
n.2679T>G
n.837T>G
n.12273T>G
c.12257T>G (p.Leu4086Trp)
c.12179T>G (p.Leu4060Trp)
c.9563T>G (p.Leu3188Trp)
c.12281T>G (p.Leu4094Trp)
c.12278T>G (p.Leu4093Trp)
c.12200T>G (p.Leu4067Trp)
c.12185T>G (p.Leu4062Trp)
c.5399T>G (p.Leu1800Trp)
c.5378T>G (p.Leu1793Trp)
n.12276T>G
 gnomAD v4
5g.90763445G>ACA445407092ADGRV1c.12261G>A (p.Leu4087=)
c.1215G>A (p.Leu405=)
c.265+87236G>A (n.265+87236G>A)
n.2680G>A
n.838G>A
n.12274G>A
c.12258G>A (p.Leu4086=)
c.12180G>A (p.Leu4060=)
c.9564G>A (p.Leu3188=)
c.12282G>A (p.Leu4094=)
c.12279G>A (p.Leu4093=)
c.12201G>A (p.Leu4067=)
c.12186G>A (p.Leu4062=)
c.5400G>A (p.Leu1800=)
c.5379G>A (p.Leu1793=)
n.12277G>A
5g.90763445G>CCA360378857ADGRV1c.12261G>C (p.Leu4087Phe)
c.1215G>C (p.Leu405Phe)
c.265+87236G>C (n.265+87236G>C)
n.2680G>C
n.838G>C
n.12274G>C
c.12258G>C (p.Leu4086Phe)
c.12180G>C (p.Leu4060Phe)
c.9564G>C (p.Leu3188Phe)
c.12282G>C (p.Leu4094Phe)
c.12279G>C (p.Leu4093Phe)
c.12201G>C (p.Leu4067Phe)
c.12186G>C (p.Leu4062Phe)
c.5400G>C (p.Leu1800Phe)
c.5379G>C (p.Leu1793Phe)
n.12277G>C
 dbSNP
5g.90763445G=CA1562889925ADGRV1c.12261G= (p.Leu4087=)
c.1215G= (p.Leu405=)
c.265+87236G= (n.265+87236G=)
n.2680G=
n.838G=
n.12274G=
c.12258G= (p.Leu4086=)
c.12180G= (p.Leu4060=)
c.9564G= (p.Leu3188=)
c.12282G= (p.Leu4094=)
c.12279G= (p.Leu4093=)
c.12201G= (p.Leu4067=)
c.12186G= (p.Leu4062=)
c.5400G= (p.Leu1800=)
c.5379G= (p.Leu1793=)
n.12277G=
5g.90763445G>TCA3341183ADGRV1c.12261G>T (p.Leu4087Phe)
c.1215G>T (p.Leu405Phe)
c.265+87236G>T (n.265+87236G>T)
n.2680G>T
n.838G>T
n.12274G>T
c.12258G>T (p.Leu4086Phe)
c.12180G>T (p.Leu4060Phe)
c.9564G>T (p.Leu3188Phe)
c.12282G>T (p.Leu4094Phe)
c.12279G>T (p.Leu4093Phe)
c.12201G>T (p.Leu4067Phe)
c.12186G>T (p.Leu4062Phe)
c.5400G>T (p.Leu1800Phe)
c.5379G>T (p.Leu1793Phe)
n.12277G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763446A=CA1562889926ADGRV1c.12262A= (p.Asn4088=)
c.1216A= (p.Asn406=)
c.265+87237A= (n.265+87237A=)
n.2681A=
n.839A=
n.12275A=
c.12259A= (p.Asn4087=)
c.12181A= (p.Asn4061=)
c.9565A= (p.Asn3189=)
c.12283A= (p.Asn4095=)
c.12280A= (p.Asn4094=)
c.12202A= (p.Asn4068=)
c.12187A= (p.Asn4063=)
c.5401A= (p.Asn1801=)
c.5380A= (p.Asn1794=)
n.12278A=
5g.90763446A>CCA360378889ADGRV1c.12262A>C (p.Asn4088His)
c.1216A>C (p.Asn406His)
c.265+87237A>C (n.265+87237A>C)
n.2681A>C
n.839A>C
n.12275A>C
c.12259A>C (p.Asn4087His)
c.12181A>C (p.Asn4061His)
c.9565A>C (p.Asn3189His)
c.12283A>C (p.Asn4095His)
c.12280A>C (p.Asn4094His)
c.12202A>C (p.Asn4068His)
c.12187A>C (p.Asn4063His)
c.5401A>C (p.Asn1801His)
c.5380A>C (p.Asn1794His)
n.12278A>C
 dbSNP gnomAD v3 gnomAD v4
5g.90763446A>GCA3341184ADGRV1c.12262A>G (p.Asn4088Asp)
c.1216A>G (p.Asn406Asp)
c.265+87237A>G (n.265+87237A>G)
n.2681A>G
n.839A>G
n.12275A>G
c.12259A>G (p.Asn4087Asp)
c.12181A>G (p.Asn4061Asp)
c.9565A>G (p.Asn3189Asp)
c.12283A>G (p.Asn4095Asp)
c.12280A>G (p.Asn4094Asp)
c.12202A>G (p.Asn4068Asp)
c.12187A>G (p.Asn4063Asp)
c.5401A>G (p.Asn1801Asp)
c.5380A>G (p.Asn1794Asp)
n.12278A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763446A>TCA360378886ADGRV1c.12262A>T (p.Asn4088Tyr)
c.1216A>T (p.Asn406Tyr)
c.265+87237A>T (n.265+87237A>T)
n.2681A>T
n.839A>T
n.12275A>T
c.12259A>T (p.Asn4087Tyr)
c.12181A>T (p.Asn4061Tyr)
c.9565A>T (p.Asn3189Tyr)
c.12283A>T (p.Asn4095Tyr)
c.12280A>T (p.Asn4094Tyr)
c.12202A>T (p.Asn4068Tyr)
c.12187A>T (p.Asn4063Tyr)
c.5401A>T (p.Asn1801Tyr)
c.5380A>T (p.Asn1794Tyr)
n.12278A>T
5g.90763447A>CCA360378897ADGRV1c.12263A>C (p.Asn4088Thr)
c.1217A>C (p.Asn406Thr)
c.265+87238A>C (n.265+87238A>C)
n.2682A>C
n.840A>C
n.12276A>C
c.12260A>C (p.Asn4087Thr)
c.12182A>C (p.Asn4061Thr)
c.9566A>C (p.Asn3189Thr)
c.12284A>C (p.Asn4095Thr)
c.12281A>C (p.Asn4094Thr)
c.12203A>C (p.Asn4068Thr)
c.12188A>C (p.Asn4063Thr)
c.5402A>C (p.Asn1801Thr)
c.5381A>C (p.Asn1794Thr)
n.12279A>C
5g.90763447A>GCA360378904ADGRV1c.12263A>G (p.Asn4088Ser)
c.1217A>G (p.Asn406Ser)
c.265+87238A>G (n.265+87238A>G)
n.2682A>G
n.840A>G
n.12276A>G
c.12260A>G (p.Asn4087Ser)
c.12182A>G (p.Asn4061Ser)
c.9566A>G (p.Asn3189Ser)
c.12284A>G (p.Asn4095Ser)
c.12281A>G (p.Asn4094Ser)
c.12203A>G (p.Asn4068Ser)
c.12188A>G (p.Asn4063Ser)
c.5402A>G (p.Asn1801Ser)
c.5381A>G (p.Asn1794Ser)
n.12279A>G
5g.90763447A>TCA360378915ADGRV1c.12263A>T (p.Asn4088Ile)
c.1217A>T (p.Asn406Ile)
c.265+87238A>T (n.265+87238A>T)
n.2682A>T
n.840A>T
n.12276A>T
c.12260A>T (p.Asn4087Ile)
c.12182A>T (p.Asn4061Ile)
c.9566A>T (p.Asn3189Ile)
c.12284A>T (p.Asn4095Ile)
c.12281A>T (p.Asn4094Ile)
c.12203A>T (p.Asn4068Ile)
c.12188A>T (p.Asn4063Ile)
c.5402A>T (p.Asn1801Ile)
c.5381A>T (p.Asn1794Ile)
n.12279A>T
5g.90763448T>ACA360378920ADGRV1c.12264T>A (p.Asn4088Lys)
c.1218T>A (p.Asn406Lys)
c.265+87239T>A (n.265+87239T>A)
n.2683T>A
n.841T>A
n.12277T>A
c.12261T>A (p.Asn4087Lys)
c.12183T>A (p.Asn4061Lys)
c.9567T>A (p.Asn3189Lys)
c.12285T>A (p.Asn4095Lys)
c.12282T>A (p.Asn4094Lys)
c.12204T>A (p.Asn4068Lys)
c.12189T>A (p.Asn4063Lys)
c.5403T>A (p.Asn1801Lys)
c.5382T>A (p.Asn1794Lys)
n.12280T>A
5g.90763448T>CCA3341185ADGRV1c.12264T>C (p.Asn4088=)
c.1218T>C (p.Asn406=)
c.265+87239T>C (n.265+87239T>C)
n.2683T>C
n.841T>C
n.12277T>C
c.12261T>C (p.Asn4087=)
c.12183T>C (p.Asn4061=)
c.9567T>C (p.Asn3189=)
c.12285T>C (p.Asn4095=)
c.12282T>C (p.Asn4094=)
c.12204T>C (p.Asn4068=)
c.12189T>C (p.Asn4063=)
c.5403T>C (p.Asn1801=)
c.5382T>C (p.Asn1794=)
n.12280T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763448T>GCA360378921ADGRV1c.12264T>G (p.Asn4088Lys)
c.1218T>G (p.Asn406Lys)
c.265+87239T>G (n.265+87239T>G)
n.2683T>G
n.841T>G
n.12277T>G
c.12261T>G (p.Asn4087Lys)
c.12183T>G (p.Asn4061Lys)
c.9567T>G (p.Asn3189Lys)
c.12285T>G (p.Asn4095Lys)
c.12282T>G (p.Asn4094Lys)
c.12204T>G (p.Asn4068Lys)
c.12189T>G (p.Asn4063Lys)
c.5403T>G (p.Asn1801Lys)
c.5382T>G (p.Asn1794Lys)
n.12280T>G
5g.90763448T=CA1562889927ADGRV1c.12264T= (p.Asn4088=)
c.1218T= (p.Asn406=)
c.265+87239T= (n.265+87239T=)
n.2683T=
n.841T=
n.12277T=
c.12261T= (p.Asn4087=)
c.12183T= (p.Asn4061=)
c.9567T= (p.Asn3189=)
c.12285T= (p.Asn4095=)
c.12282T= (p.Asn4094=)
c.12204T= (p.Asn4068=)
c.12189T= (p.Asn4063=)
c.5403T= (p.Asn1801=)
c.5382T= (p.Asn1794=)
n.12280T=
5g.90763449G>ACA360378929ADGRV1c.12265G>A (p.Gly4089Arg)
c.1219G>A (p.Gly407Arg)
c.265+87240G>A (n.265+87240G>A)
n.2684G>A
n.842G>A
n.12278G>A
c.12262G>A (p.Gly4088Arg)
c.12184G>A (p.Gly4062Arg)
c.9568G>A (p.Gly3190Arg)
c.12286G>A (p.Gly4096Arg)
c.12283G>A (p.Gly4095Arg)
c.12205G>A (p.Gly4069Arg)
c.12190G>A (p.Gly4064Arg)
c.5404G>A (p.Gly1802Arg)
c.5383G>A (p.Gly1795Arg)
n.12281G>A
 gnomAD v4
5g.90763449G>CCA360378944ADGRV1c.12265G>C (p.Gly4089Arg)
c.1219G>C (p.Gly407Arg)
c.265+87240G>C (n.265+87240G>C)
n.2684G>C
n.842G>C
n.12278G>C
c.12262G>C (p.Gly4088Arg)
c.12184G>C (p.Gly4062Arg)
c.9568G>C (p.Gly3190Arg)
c.12286G>C (p.Gly4096Arg)
c.12283G>C (p.Gly4095Arg)
c.12205G>C (p.Gly4069Arg)
c.12190G>C (p.Gly4064Arg)
c.5404G>C (p.Gly1802Arg)
c.5383G>C (p.Gly1795Arg)
n.12281G>C
5g.90763449G>TCA360378964ADGRV1c.12265G>T (p.Gly4089Trp)
c.1219G>T (p.Gly407Trp)
c.265+87240G>T (n.265+87240G>T)
n.2684G>T
n.842G>T
n.12278G>T
c.12262G>T (p.Gly4088Trp)
c.12184G>T (p.Gly4062Trp)
c.9568G>T (p.Gly3190Trp)
c.12286G>T (p.Gly4096Trp)
c.12283G>T (p.Gly4095Trp)
c.12205G>T (p.Gly4069Trp)
c.12190G>T (p.Gly4064Trp)
c.5404G>T (p.Gly1802Trp)
c.5383G>T (p.Gly1795Trp)
n.12281G>T
5g.90763450G>ACA360378982ADGRV1c.12266G>A (p.Gly4089Glu)
c.1220G>A (p.Gly407Glu)
c.265+87241G>A (n.265+87241G>A)
n.2685G>A
n.843G>A
n.12279G>A
c.12263G>A (p.Gly4088Glu)
c.12185G>A (p.Gly4062Glu)
c.9569G>A (p.Gly3190Glu)
c.12287G>A (p.Gly4096Glu)
c.12284G>A (p.Gly4095Glu)
c.12206G>A (p.Gly4069Glu)
c.12191G>A (p.Gly4064Glu)
c.5405G>A (p.Gly1802Glu)
c.5384G>A (p.Gly1795Glu)
n.12282G>A
5g.90763450G>CCA360378989ADGRV1c.12266G>C (p.Gly4089Ala)
c.1220G>C (p.Gly407Ala)
c.265+87241G>C (n.265+87241G>C)
n.2685G>C
n.843G>C
n.12279G>C
c.12263G>C (p.Gly4088Ala)
c.12185G>C (p.Gly4062Ala)
c.9569G>C (p.Gly3190Ala)
c.12287G>C (p.Gly4096Ala)
c.12284G>C (p.Gly4095Ala)
c.12206G>C (p.Gly4069Ala)
c.12191G>C (p.Gly4064Ala)
c.5405G>C (p.Gly1802Ala)
c.5384G>C (p.Gly1795Ala)
n.12282G>C
5g.90763450G>TCA360378992ADGRV1c.12266G>T (p.Gly4089Val)
c.1220G>T (p.Gly407Val)
c.265+87241G>T (n.265+87241G>T)
n.2685G>T
n.843G>T
n.12279G>T
c.12263G>T (p.Gly4088Val)
c.12185G>T (p.Gly4062Val)
c.9569G>T (p.Gly3190Val)
c.12287G>T (p.Gly4096Val)
c.12284G>T (p.Gly4095Val)
c.12206G>T (p.Gly4069Val)
c.12191G>T (p.Gly4064Val)
c.5405G>T (p.Gly1802Val)
c.5384G>T (p.Gly1795Val)
n.12282G>T
 gnomAD v4
5g.90763451G>ACA445407136ADGRV1c.12267G>A (p.Gly4089=)
c.1221G>A (p.Gly407=)
c.265+87242G>A (n.265+87242G>A)
n.2686G>A
n.844G>A
n.12280G>A
c.12264G>A (p.Gly4088=)
c.12186G>A (p.Gly4062=)
c.9570G>A (p.Gly3190=)
c.12288G>A (p.Gly4096=)
c.12285G>A (p.Gly4095=)
c.12207G>A (p.Gly4069=)
c.12192G>A (p.Gly4064=)
c.5406G>A (p.Gly1802=)
c.5385G>A (p.Gly1795=)
n.12283G>A
5g.90763451G>CCA445407140ADGRV1c.12267G>C (p.Gly4089=)
c.1221G>C (p.Gly407=)
c.265+87242G>C (n.265+87242G>C)
n.2686G>C
n.844G>C
n.12280G>C
c.12264G>C (p.Gly4088=)
c.12186G>C (p.Gly4062=)
c.9570G>C (p.Gly3190=)
c.12288G>C (p.Gly4096=)
c.12285G>C (p.Gly4095=)
c.12207G>C (p.Gly4069=)
c.12192G>C (p.Gly4064=)
c.5406G>C (p.Gly1802=)
c.5385G>C (p.Gly1795=)
n.12283G>C
5g.90763451G>TCA445407138ADGRV1c.12267G>T (p.Gly4089=)
c.1221G>T (p.Gly407=)
c.265+87242G>T (n.265+87242G>T)
n.2686G>T
n.844G>T
n.12280G>T
c.12264G>T (p.Gly4088=)
c.12186G>T (p.Gly4062=)
c.9570G>T (p.Gly3190=)
c.12288G>T (p.Gly4096=)
c.12285G>T (p.Gly4095=)
c.12207G>T (p.Gly4069=)
c.12192G>T (p.Gly4064=)
c.5406G>T (p.Gly1802=)
c.5385G>T (p.Gly1795=)
n.12283G>T
5g.90763452A>CCA360379019ADGRV1c.12268A>C (p.Thr4090Pro)
c.1222A>C (p.Thr408Pro)
c.265+87243A>C (n.265+87243A>C)
n.2687A>C
n.845A>C
n.12281A>C
c.12265A>C (p.Thr4089Pro)
c.12187A>C (p.Thr4063Pro)
c.9571A>C (p.Thr3191Pro)
c.12289A>C (p.Thr4097Pro)
c.12286A>C (p.Thr4096Pro)
c.12208A>C (p.Thr4070Pro)
c.12193A>C (p.Thr4065Pro)
c.5407A>C (p.Thr1803Pro)
c.5386A>C (p.Thr1796Pro)
n.12284A>C
5g.90763452A>GCA360379009ADGRV1c.12268A>G (p.Thr4090Ala)
c.1222A>G (p.Thr408Ala)
c.265+87243A>G (n.265+87243A>G)
n.2687A>G
n.845A>G
n.12281A>G
c.12265A>G (p.Thr4089Ala)
c.12187A>G (p.Thr4063Ala)
c.9571A>G (p.Thr3191Ala)
c.12289A>G (p.Thr4097Ala)
c.12286A>G (p.Thr4096Ala)
c.12208A>G (p.Thr4070Ala)
c.12193A>G (p.Thr4065Ala)
c.5407A>G (p.Thr1803Ala)
c.5386A>G (p.Thr1796Ala)
n.12284A>G
5g.90763452A>TCA360379003ADGRV1c.12268A>T (p.Thr4090Ser)
c.1222A>T (p.Thr408Ser)
c.265+87243A>T (n.265+87243A>T)
n.2687A>T
n.845A>T
n.12281A>T
c.12265A>T (p.Thr4089Ser)
c.12187A>T (p.Thr4063Ser)
c.9571A>T (p.Thr3191Ser)
c.12289A>T (p.Thr4097Ser)
c.12286A>T (p.Thr4096Ser)
c.12208A>T (p.Thr4070Ser)
c.12193A>T (p.Thr4065Ser)
c.5407A>T (p.Thr1803Ser)
c.5386A>T (p.Thr1796Ser)
n.12284A>T
5g.90763453C>ACA138009ADGRV1c.12269C>A (p.Thr4090Asn)
c.1223C>A (p.Thr408Asn)
c.265+87244C>A (n.265+87244C>A)
n.2688C>A
n.846C>A
n.12282C>A
c.12266C>A (p.Thr4089Asn)
c.12188C>A (p.Thr4063Asn)
c.9572C>A (p.Thr3191Asn)
c.12290C>A (p.Thr4097Asn)
c.12287C>A (p.Thr4096Asn)
c.12209C>A (p.Thr4070Asn)
c.12194C>A (p.Thr4065Asn)
c.5408C>A (p.Thr1803Asn)
c.5387C>A (p.Thr1796Asn)
n.12285C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763453C=CA1562889928ADGRV1c.12269C= (p.Thr4090=)
c.1223C= (p.Thr408=)
c.265+87244C= (n.265+87244C=)
n.2688C=
n.846C=
n.12282C=
c.12266C= (p.Thr4089=)
c.12188C= (p.Thr4063=)
c.9572C= (p.Thr3191=)
c.12290C= (p.Thr4097=)
c.12287C= (p.Thr4096=)
c.12209C= (p.Thr4070=)
c.12194C= (p.Thr4065=)
c.5408C= (p.Thr1803=)
c.5387C= (p.Thr1796=)
n.12285C=
5g.90763453C>GCA360379027ADGRV1c.12269C>G (p.Thr4090Ser)
c.1223C>G (p.Thr408Ser)
c.265+87244C>G (n.265+87244C>G)
n.2688C>G
n.846C>G
n.12282C>G
c.12266C>G (p.Thr4089Ser)
c.12188C>G (p.Thr4063Ser)
c.9572C>G (p.Thr3191Ser)
c.12290C>G (p.Thr4097Ser)
c.12287C>G (p.Thr4096Ser)
c.12209C>G (p.Thr4070Ser)
c.12194C>G (p.Thr4065Ser)
c.5408C>G (p.Thr1803Ser)
c.5387C>G (p.Thr1796Ser)
n.12285C>G
5g.90763453C>TCA360379024ADGRV1c.12269C>T (p.Thr4090Ile)
c.1223C>T (p.Thr408Ile)
c.265+87244C>T (n.265+87244C>T)
n.2688C>T
n.846C>T
n.12282C>T
c.12266C>T (p.Thr4089Ile)
c.12188C>T (p.Thr4063Ile)
c.9572C>T (p.Thr3191Ile)
c.12290C>T (p.Thr4097Ile)
c.12287C>T (p.Thr4096Ile)
c.12209C>T (p.Thr4070Ile)
c.12194C>T (p.Thr4065Ile)
c.5408C>T (p.Thr1803Ile)
c.5387C>T (p.Thr1796Ile)
n.12285C>T

Number of alleles fetched