Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90692654T>ACA360370983ADGRV1c.7001T>A (p.Leu2334Ter)
c.265+16445T>A (n.265+16445T>A)
n.2460T>A
c.808T>A
n.145T>A
c.4292T>A (p.Leu1431Ter)
c.1730T>A
n.7014T>A
c.6998T>A (p.Leu2333Ter)
c.6920T>A (p.Leu2307Ter)
c.4304T>A (p.Leu1435Ter)
c.6905T>A (p.Leu2302Ter)
c.119T>A (p.Leu40Ter)
n.7017T>A
5g.90692654T>CCA360370985ADGRV1c.7001T>C (p.Leu2334Ser)
c.265+16445T>C (n.265+16445T>C)
n.2460T>C
c.808T>C
n.145T>C
c.4292T>C (p.Leu1431Ser)
c.1730T>C
n.7014T>C
c.6998T>C (p.Leu2333Ser)
c.6920T>C (p.Leu2307Ser)
c.4304T>C (p.Leu1435Ser)
c.6905T>C (p.Leu2302Ser)
c.119T>C (p.Leu40Ser)
n.7017T>C
5g.90692654T>GCA360370992ADGRV1c.7001T>G (p.Leu2334Ter)
c.265+16445T>G (n.265+16445T>G)
n.2460T>G
c.808T>G
n.145T>G
c.4292T>G (p.Leu1431Ter)
c.1730T>G
n.7014T>G
c.6998T>G (p.Leu2333Ter)
c.6920T>G (p.Leu2307Ter)
c.4304T>G (p.Leu1435Ter)
c.6905T>G (p.Leu2302Ter)
c.119T>G (p.Leu40Ter)
n.7017T>G
 gnomAD v4
5g.90692655A>CCA360371002ADGRV1c.7002A>C (p.Leu2334Phe)
c.265+16446A>C (n.265+16446A>C)
n.2461A>C
c.809A>C
n.146A>C
c.4293A>C (p.Leu1431Phe)
c.1731A>C
n.7015A>C
c.6999A>C (p.Leu2333Phe)
c.6921A>C (p.Leu2307Phe)
c.4305A>C (p.Leu1435Phe)
c.6906A>C (p.Leu2302Phe)
c.120A>C (p.Leu40Phe)
n.7018A>C
5g.90692655A>GCA445404492ADGRV1c.7002A>G (p.Leu2334=)
c.265+16446A>G (n.265+16446A>G)
n.2461A>G
c.809A>G
n.146A>G
c.4293A>G (p.Leu1431=)
c.1731A>G
n.7015A>G
c.6999A>G (p.Leu2333=)
c.6921A>G (p.Leu2307=)
c.4305A>G (p.Leu1435=)
c.6906A>G (p.Leu2302=)
c.120A>G (p.Leu40=)
n.7018A>G
5g.90692655A>TCA360371016ADGRV1c.7002A>T (p.Leu2334Phe)
c.265+16446A>T (n.265+16446A>T)
n.2461A>T
c.809A>T
n.146A>T
c.4293A>T (p.Leu1431Phe)
c.1731A>T
n.7015A>T
c.6999A>T (p.Leu2333Phe)
c.6921A>T (p.Leu2307Phe)
c.4305A>T (p.Leu1435Phe)
c.6906A>T (p.Leu2302Phe)
c.120A>T (p.Leu40Phe)
n.7018A>T
5g.90692656G>ACA360371020ADGRV1c.7003G>A (p.Asp2335Asn)
c.265+16447G>A (n.265+16447G>A)
n.2462G>A
c.810G>A
n.147G>A
c.4294G>A (p.Asp1432Asn)
c.1732G>A
n.7016G>A
c.7000G>A (p.Asp2334Asn)
c.6922G>A (p.Asp2308Asn)
c.4306G>A (p.Asp1436Asn)
c.6907G>A (p.Asp2303Asn)
c.121G>A (p.Asp41Asn)
n.7019G>A
 dbSNP gnomAD v4
5g.90692656G>CCA360371023ADGRV1c.7003G>C (p.Asp2335His)
c.265+16447G>C (n.265+16447G>C)
n.2462G>C
c.810G>C
n.147G>C
c.4294G>C (p.Asp1432His)
c.1732G>C
n.7016G>C
c.7000G>C (p.Asp2334His)
c.6922G>C (p.Asp2308His)
c.4306G>C (p.Asp1436His)
c.6907G>C (p.Asp2303His)
c.121G>C (p.Asp41His)
n.7019G>C
 gnomAD v4
5g.90692656G=CA1562859266ADGRV1c.7003G= (p.Asp2335=)
c.265+16447G= (n.265+16447G=)
n.2462G=
c.810G=
n.147G=
c.4294G= (p.Asp1432=)
c.1732G=
n.7016G=
c.7000G= (p.Asp2334=)
c.6922G= (p.Asp2308=)
c.4306G= (p.Asp1436=)
c.6907G= (p.Asp2303=)
c.121G= (p.Asp41=)
n.7019G=
5g.90692656G>TCA360371025ADGRV1c.7003G>T (p.Asp2335Tyr)
c.265+16447G>T (n.265+16447G>T)
n.2462G>T
c.810G>T
n.147G>T
c.4294G>T (p.Asp1432Tyr)
c.1732G>T
n.7016G>T
c.7000G>T (p.Asp2334Tyr)
c.6922G>T (p.Asp2308Tyr)
c.4306G>T (p.Asp1436Tyr)
c.6907G>T (p.Asp2303Tyr)
c.121G>T (p.Asp41Tyr)
n.7019G>T
 ClinVar
5g.90692657A>CCA360371045ADGRV1c.7004A>C (p.Asp2335Ala)
c.265+16448A>C (n.265+16448A>C)
n.2463A>C
c.811A>C
n.148A>C
c.4295A>C (p.Asp1432Ala)
c.1733A>C
n.7017A>C
c.7001A>C (p.Asp2334Ala)
c.6923A>C (p.Asp2308Ala)
c.4307A>C (p.Asp1436Ala)
c.6908A>C (p.Asp2303Ala)
c.122A>C (p.Asp41Ala)
n.7020A>C
5g.90692657A>GCA360371039ADGRV1c.7004A>G (p.Asp2335Gly)
c.265+16448A>G (n.265+16448A>G)
n.2463A>G
c.811A>G
n.148A>G
c.4295A>G (p.Asp1432Gly)
c.1733A>G
n.7017A>G
c.7001A>G (p.Asp2334Gly)
c.6923A>G (p.Asp2308Gly)
c.4307A>G (p.Asp1436Gly)
c.6908A>G (p.Asp2303Gly)
c.122A>G (p.Asp41Gly)
n.7020A>G
5g.90692657A>TCA360371035ADGRV1c.7004A>T (p.Asp2335Val)
c.265+16448A>T (n.265+16448A>T)
n.2463A>T
c.811A>T
n.148A>T
c.4295A>T (p.Asp1432Val)
c.1733A>T
n.7017A>T
c.7001A>T (p.Asp2334Val)
c.6923A>T (p.Asp2308Val)
c.4307A>T (p.Asp1436Val)
c.6908A>T (p.Asp2303Val)
c.122A>T (p.Asp41Val)
n.7020A>T
 gnomAD v4
5g.90692658T>ACA360371047ADGRV1c.7005T>A (p.Asp2335Glu)
c.265+16449T>A (n.265+16449T>A)
n.2464T>A
c.812T>A
n.149T>A
c.4296T>A (p.Asp1432Glu)
c.1734T>A
n.7018T>A
c.7002T>A (p.Asp2334Glu)
c.6924T>A (p.Asp2308Glu)
c.4308T>A (p.Asp1436Glu)
c.6909T>A (p.Asp2303Glu)
c.123T>A (p.Asp41Glu)
n.7021T>A
5g.90692658T>CCA445404493ADGRV1c.7005T>C (p.Asp2335=)
c.265+16449T>C (n.265+16449T>C)
n.2464T>C
c.812T>C
n.149T>C
c.4296T>C (p.Asp1432=)
c.1734T>C
n.7018T>C
c.7002T>C (p.Asp2334=)
c.6924T>C (p.Asp2308=)
c.4308T>C (p.Asp1436=)
c.6909T>C (p.Asp2303=)
c.123T>C (p.Asp41=)
n.7021T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692658T>GCA3339948ADGRV1c.7005T>G (p.Asp2335Glu)
c.265+16449T>G (n.265+16449T>G)
n.2464T>G
c.812T>G
n.149T>G
c.4296T>G (p.Asp1432Glu)
c.1734T>G
n.7018T>G
c.7002T>G (p.Asp2334Glu)
c.6924T>G (p.Asp2308Glu)
c.4308T>G (p.Asp1436Glu)
c.6909T>G (p.Asp2303Glu)
c.123T>G (p.Asp41Glu)
n.7021T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692658T=CA1562859267ADGRV1c.7005T= (p.Asp2335=)
c.265+16449T= (n.265+16449T=)
n.2464T=
c.812T=
n.149T=
c.4296T= (p.Asp1432=)
c.1734T=
n.7018T=
c.7002T= (p.Asp2334=)
c.6924T= (p.Asp2308=)
c.4308T= (p.Asp1436=)
c.6909T= (p.Asp2303=)
c.123T= (p.Asp41=)
n.7021T=
5g.90692659C>ACA445404494ADGRV1c.7006C>A (p.Arg2336=)
c.265+16450C>A (n.265+16450C>A)
n.2465C>A
c.813C>A
n.150C>A
c.4297C>A (p.Arg1433=)
c.1735C>A
n.7019C>A
c.7003C>A (p.Arg2335=)
c.6925C>A (p.Arg2309=)
c.4309C>A (p.Arg1437=)
c.6910C>A (p.Arg2304=)
c.124C>A (p.Arg42=)
n.7022C>A
 ClinVar COSMIC
5g.90692659C=CA1562859268ADGRV1c.7006C= (p.Arg2336=)
c.265+16450C= (n.265+16450C=)
n.2465C=
c.813C=
n.150C=
c.4297C= (p.Arg1433=)
c.1735C=
n.7019C=
c.7003C= (p.Arg2335=)
c.6925C= (p.Arg2309=)
c.4309C= (p.Arg1437=)
c.6910C= (p.Arg2304=)
c.124C= (p.Arg42=)
n.7022C=
5g.90692659C>GCA360371049ADGRV1c.7006C>G (p.Arg2336Gly)
c.265+16450C>G (n.265+16450C>G)
n.2465C>G
c.813C>G
n.150C>G
c.4297C>G (p.Arg1433Gly)
c.1735C>G
n.7019C>G
c.7003C>G (p.Arg2335Gly)
c.6925C>G (p.Arg2309Gly)
c.4309C>G (p.Arg1437Gly)
c.6910C>G (p.Arg2304Gly)
c.124C>G (p.Arg42Gly)
n.7022C>G
5g.90692659C>TCA270126ADGRV1c.7006C>T (p.Arg2336Ter)
c.265+16450C>T (n.265+16450C>T)
n.2465C>T
c.813C>T
n.150C>T
c.4297C>T (p.Arg1433Ter)
c.1735C>T
n.7019C>T
c.7003C>T (p.Arg2335Ter)
c.6925C>T (p.Arg2309Ter)
c.4309C>T (p.Arg1437Ter)
c.6910C>T (p.Arg2304Ter)
c.124C>T (p.Arg42Ter)
n.7022C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.90692660G>ACA3339949ADGRV1c.7007G>A (p.Arg2336Gln)
c.265+16451G>A (n.265+16451G>A)
n.2466G>A
c.814G>A
n.151G>A
c.4298G>A (p.Arg1433Gln)
c.1736G>A
n.7020G>A
c.7004G>A (p.Arg2335Gln)
c.6926G>A (p.Arg2309Gln)
c.4310G>A (p.Arg1437Gln)
c.6911G>A (p.Arg2304Gln)
c.125G>A (p.Arg42Gln)
n.7023G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692660G>CCA360371052ADGRV1c.7007G>C (p.Arg2336Pro)
c.265+16451G>C (n.265+16451G>C)
n.2466G>C
c.814G>C
n.151G>C
c.4298G>C (p.Arg1433Pro)
c.1736G>C
n.7020G>C
c.7004G>C (p.Arg2335Pro)
c.6926G>C (p.Arg2309Pro)
c.4310G>C (p.Arg1437Pro)
c.6911G>C (p.Arg2304Pro)
c.125G>C (p.Arg42Pro)
n.7023G>C
5g.90692660G=CA1562859269ADGRV1c.7007G= (p.Arg2336=)
c.265+16451G= (n.265+16451G=)
n.2466G=
c.814G=
n.151G=
c.4298G= (p.Arg1433=)
c.1736G=
n.7020G=
c.7004G= (p.Arg2335=)
c.6926G= (p.Arg2309=)
c.4310G= (p.Arg1437=)
c.6911G= (p.Arg2304=)
c.125G= (p.Arg42=)
n.7023G=
5g.90692660G>TCA360371054ADGRV1c.7007G>T (p.Arg2336Leu)
c.265+16451G>T (n.265+16451G>T)
n.2466G>T
c.814G>T
n.151G>T
c.4298G>T (p.Arg1433Leu)
c.1736G>T
n.7020G>T
c.7004G>T (p.Arg2335Leu)
c.6926G>T (p.Arg2309Leu)
c.4310G>T (p.Arg1437Leu)
c.6911G>T (p.Arg2304Leu)
c.125G>T (p.Arg42Leu)
n.7023G>T
5g.90692661A>CCA445404495ADGRV1c.7008A>C (p.Arg2336=)
c.265+16452A>C (n.265+16452A>C)
n.2467A>C
c.815A>C
n.152A>C
c.4299A>C (p.Arg1433=)
c.1737A>C
n.7021A>C
c.7005A>C (p.Arg2335=)
c.6927A>C (p.Arg2309=)
c.4311A>C (p.Arg1437=)
c.6912A>C (p.Arg2304=)
c.126A>C (p.Arg42=)
n.7024A>C
5g.90692661A>GCA445404496ADGRV1c.7008A>G (p.Arg2336=)
c.265+16452A>G (n.265+16452A>G)
n.2467A>G
c.815A>G
n.152A>G
c.4299A>G (p.Arg1433=)
c.1737A>G
n.7021A>G
c.7005A>G (p.Arg2335=)
c.6927A>G (p.Arg2309=)
c.4311A>G (p.Arg1437=)
c.6912A>G (p.Arg2304=)
c.126A>G (p.Arg42=)
n.7024A>G
5g.90692661A>TCA445404497ADGRV1c.7008A>T (p.Arg2336=)
c.265+16452A>T (n.265+16452A>T)
n.2467A>T
c.815A>T
n.152A>T
c.4299A>T (p.Arg1433=)
c.1737A>T
n.7021A>T
c.7005A>T (p.Arg2335=)
c.6927A>T (p.Arg2309=)
c.4311A>T (p.Arg1437=)
c.6912A>T (p.Arg2304=)
c.126A>T (p.Arg42=)
n.7024A>T
5g.90692662A>CCA360371059ADGRV1c.7009A>C (p.Ile2337Leu)
c.265+16453A>C (n.265+16453A>C)
n.2468A>C
c.816A>C
n.153A>C
c.4300A>C (p.Ile1434Leu)
c.1738A>C
n.7022A>C
c.7006A>C (p.Ile2336Leu)
c.6928A>C (p.Ile2310Leu)
c.4312A>C (p.Ile1438Leu)
c.6913A>C (p.Ile2305Leu)
c.127A>C (p.Ile43Leu)
n.7025A>C
5g.90692662A>GCA360371060ADGRV1c.7009A>G (p.Ile2337Val)
c.265+16453A>G (n.265+16453A>G)
n.2468A>G
c.816A>G
n.153A>G
c.4300A>G (p.Ile1434Val)
c.1738A>G
n.7022A>G
c.7006A>G (p.Ile2336Val)
c.6928A>G (p.Ile2310Val)
c.4312A>G (p.Ile1438Val)
c.6913A>G (p.Ile2305Val)
c.127A>G (p.Ile43Val)
n.7025A>G
5g.90692662A>TCA360371061ADGRV1c.7009A>T (p.Ile2337Phe)
c.265+16453A>T (n.265+16453A>T)
n.2468A>T
c.816A>T
n.153A>T
c.4300A>T (p.Ile1434Phe)
c.1738A>T
n.7022A>T
c.7006A>T (p.Ile2336Phe)
c.6928A>T (p.Ile2310Phe)
c.4312A>T (p.Ile1438Phe)
c.6913A>T (p.Ile2305Phe)
c.127A>T (p.Ile43Phe)
n.7025A>T
5g.90692663T>ACA360371063ADGRV1c.7010T>A (p.Ile2337Asn)
c.265+16454T>A (n.265+16454T>A)
n.2469T>A
c.817T>A
n.154T>A
c.4301T>A (p.Ile1434Asn)
c.1739T>A
n.7023T>A
c.7007T>A (p.Ile2336Asn)
c.6929T>A (p.Ile2310Asn)
c.4313T>A (p.Ile1438Asn)
c.6914T>A (p.Ile2305Asn)
c.128T>A (p.Ile43Asn)
n.7026T>A
 dbSNP
5g.90692663T>CCA360371067ADGRV1c.7010T>C (p.Ile2337Thr)
c.265+16454T>C (n.265+16454T>C)
n.2469T>C
c.817T>C
n.154T>C
c.4301T>C (p.Ile1434Thr)
c.1739T>C
n.7023T>C
c.7007T>C (p.Ile2336Thr)
c.6929T>C (p.Ile2310Thr)
c.4313T>C (p.Ile1438Thr)
c.6914T>C (p.Ile2305Thr)
c.128T>C (p.Ile43Thr)
n.7026T>C
5g.90692663T>GCA360371070ADGRV1c.7010T>G (p.Ile2337Ser)
c.265+16454T>G (n.265+16454T>G)
n.2469T>G
c.817T>G
n.154T>G
c.4301T>G (p.Ile1434Ser)
c.1739T>G
n.7023T>G
c.7007T>G (p.Ile2336Ser)
c.6929T>G (p.Ile2310Ser)
c.4313T>G (p.Ile1438Ser)
c.6914T>G (p.Ile2305Ser)
c.128T>G (p.Ile43Ser)
n.7026T>G
5g.90692664T>ACA445404498ADGRV1c.7011T>A (p.Ile2337=)
c.265+16455T>A (n.265+16455T>A)
n.2470T>A
c.818T>A
n.155T>A
c.4302T>A (p.Ile1434=)
c.1740T>A
n.7024T>A
c.7008T>A (p.Ile2336=)
c.6930T>A (p.Ile2310=)
c.4314T>A (p.Ile1438=)
c.6915T>A (p.Ile2305=)
c.129T>A (p.Ile43=)
n.7027T>A
5g.90692664T>CCA445404499ADGRV1c.7011T>C (p.Ile2337=)
c.265+16455T>C (n.265+16455T>C)
n.2470T>C
c.818T>C
n.155T>C
c.4302T>C (p.Ile1434=)
c.1740T>C
n.7024T>C
c.7008T>C (p.Ile2336=)
c.6930T>C (p.Ile2310=)
c.4314T>C (p.Ile1438=)
c.6915T>C (p.Ile2305=)
c.129T>C (p.Ile43=)
n.7027T>C
 ClinVar gnomAD v4
5g.90692664T>GCA360371072ADGRV1c.7011T>G (p.Ile2337Met)
c.265+16455T>G (n.265+16455T>G)
n.2470T>G
c.818T>G
n.155T>G
c.4302T>G (p.Ile1434Met)
c.1740T>G
n.7024T>G
c.7008T>G (p.Ile2336Met)
c.6930T>G (p.Ile2310Met)
c.4314T>G (p.Ile1438Met)
c.6915T>G (p.Ile2305Met)
c.129T>G (p.Ile43Met)
n.7027T>G
5g.90692665G>ACA360371079ADGRV1c.7012G>A (p.Ala2338Thr)
c.265+16456G>A (n.265+16456G>A)
n.2471G>A
c.819G>A
n.156G>A
c.4303G>A (p.Ala1435Thr)
c.1741G>A
n.7025G>A
c.7009G>A (p.Ala2337Thr)
c.6931G>A (p.Ala2311Thr)
c.4315G>A (p.Ala1439Thr)
c.6916G>A (p.Ala2306Thr)
c.130G>A (p.Ala44Thr)
n.7028G>A
 dbSNP gnomAD v3 gnomAD v4
5g.90692665G>CCA360371077ADGRV1c.7012G>C (p.Ala2338Pro)
c.265+16456G>C (n.265+16456G>C)
n.2471G>C
c.819G>C
n.156G>C
c.4303G>C (p.Ala1435Pro)
c.1741G>C
n.7025G>C
c.7009G>C (p.Ala2337Pro)
c.6931G>C (p.Ala2311Pro)
c.4315G>C (p.Ala1439Pro)
c.6916G>C (p.Ala2306Pro)
c.130G>C (p.Ala44Pro)
n.7028G>C
5g.90692665G=CA1562859270ADGRV1c.7012G= (p.Ala2338=)
c.265+16456G= (n.265+16456G=)
n.2471G=
c.819G=
n.156G=
c.4303G= (p.Ala1435=)
c.1741G=
n.7025G=
c.7009G= (p.Ala2337=)
c.6931G= (p.Ala2311=)
c.4315G= (p.Ala1439=)
c.6916G= (p.Ala2306=)
c.130G= (p.Ala44=)
n.7028G=
5g.90692665G>TCA360371074ADGRV1c.7012G>T (p.Ala2338Ser)
c.265+16456G>T (n.265+16456G>T)
n.2471G>T
c.819G>T
n.156G>T
c.4303G>T (p.Ala1435Ser)
c.1741G>T
n.7025G>T
c.7009G>T (p.Ala2337Ser)
c.6931G>T (p.Ala2311Ser)
c.4315G>T (p.Ala1439Ser)
c.6916G>T (p.Ala2306Ser)
c.130G>T (p.Ala44Ser)
n.7028G>T
 gnomAD v4
5g.90692666C>ACA360371085ADGRV1c.7013C>A (p.Ala2338Glu)
c.265+16457C>A (n.265+16457C>A)
n.2472C>A
c.820C>A
n.157C>A
c.4304C>A (p.Ala1435Glu)
c.1742C>A
n.7026C>A
c.7010C>A (p.Ala2337Glu)
c.6932C>A (p.Ala2311Glu)
c.4316C>A (p.Ala1439Glu)
c.6917C>A (p.Ala2306Glu)
c.131C>A (p.Ala44Glu)
n.7029C>A
5g.90692666C>GCA360371089ADGRV1c.7013C>G (p.Ala2338Gly)
c.265+16457C>G (n.265+16457C>G)
n.2472C>G
c.820C>G
n.157C>G
c.4304C>G (p.Ala1435Gly)
c.1742C>G
n.7026C>G
c.7010C>G (p.Ala2337Gly)
c.6932C>G (p.Ala2311Gly)
c.4316C>G (p.Ala1439Gly)
c.6917C>G (p.Ala2306Gly)
c.131C>G (p.Ala44Gly)
n.7029C>G
5g.90692666C>TCA360371092ADGRV1c.7013C>T (p.Ala2338Val)
c.265+16457C>T (n.265+16457C>T)
n.2472C>T
c.820C>T
n.157C>T
c.4304C>T (p.Ala1435Val)
c.1742C>T
n.7026C>T
c.7010C>T (p.Ala2337Val)
c.6932C>T (p.Ala2311Val)
c.4316C>T (p.Ala1439Val)
c.6917C>T (p.Ala2306Val)
c.131C>T (p.Ala44Val)
n.7029C>T
 gnomAD v4
5g.90692667A>CCA445404500ADGRV1c.7014A>C (p.Ala2338=)
c.265+16458A>C (n.265+16458A>C)
n.2473A>C
c.821A>C
n.158A>C
c.4305A>C (p.Ala1435=)
c.1743A>C
n.7027A>C
c.7011A>C (p.Ala2337=)
c.6933A>C (p.Ala2311=)
c.4317A>C (p.Ala1439=)
c.6918A>C (p.Ala2306=)
c.132A>C (p.Ala44=)
n.7030A>C
5g.90692667A>GCA445404501ADGRV1c.7014A>G (p.Ala2338=)
c.265+16458A>G (n.265+16458A>G)
n.2473A>G
c.821A>G
n.158A>G
c.4305A>G (p.Ala1435=)
c.1743A>G
n.7027A>G
c.7011A>G (p.Ala2337=)
c.6933A>G (p.Ala2311=)
c.4317A>G (p.Ala1439=)
c.6918A>G (p.Ala2306=)
c.132A>G (p.Ala44=)
n.7030A>G
5g.90692667A>TCA445404502ADGRV1c.7014A>T (p.Ala2338=)
c.265+16458A>T (n.265+16458A>T)
n.2473A>T
c.821A>T
n.158A>T
c.4305A>T (p.Ala1435=)
c.1743A>T
n.7027A>T
c.7011A>T (p.Ala2337=)
c.6933A>T (p.Ala2311=)
c.4317A>T (p.Ala1439=)
c.6918A>T (p.Ala2306=)
c.132A>T (p.Ala44=)
n.7030A>T
5g.90692668A=CA1562859271ADGRV1c.7015A= (p.Asn2339=)
c.265+16459A= (n.265+16459A=)
n.2474A=
c.822A=
n.159A=
c.4306A= (p.Asn1436=)
c.1744A=
n.7028A=
c.7012A= (p.Asn2338=)
c.6934A= (p.Asn2312=)
c.4318A= (p.Asn1440=)
c.6919A= (p.Asn2307=)
c.133A= (p.Asn45=)
n.7031A=
5g.90692668A>CCA360371094ADGRV1c.7015A>C (p.Asn2339His)
c.265+16459A>C (n.265+16459A>C)
n.2474A>C
c.822A>C
n.159A>C
c.4306A>C (p.Asn1436His)
c.1744A>C
n.7028A>C
c.7012A>C (p.Asn2338His)
c.6934A>C (p.Asn2312His)
c.4318A>C (p.Asn1440His)
c.6919A>C (p.Asn2307His)
c.133A>C (p.Asn45His)
n.7031A>C
5g.90692668A>GCA360371096ADGRV1c.7015A>G (p.Asn2339Asp)
c.265+16459A>G (n.265+16459A>G)
n.2474A>G
c.822A>G
n.159A>G
c.4306A>G (p.Asn1436Asp)
c.1744A>G
n.7028A>G
c.7012A>G (p.Asn2338Asp)
c.6934A>G (p.Asn2312Asp)
c.4318A>G (p.Asn1440Asp)
c.6919A>G (p.Asn2307Asp)
c.133A>G (p.Asn45Asp)
n.7031A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90692668A>TCA360371104ADGRV1c.7015A>T (p.Asn2339Tyr)
c.265+16459A>T (n.265+16459A>T)
n.2474A>T
c.822A>T
n.159A>T
c.4306A>T (p.Asn1436Tyr)
c.1744A>T
n.7028A>T
c.7012A>T (p.Asn2338Tyr)
c.6934A>T (p.Asn2312Tyr)
c.4318A>T (p.Asn1440Tyr)
c.6919A>T (p.Asn2307Tyr)
c.133A>T (p.Asn45Tyr)
n.7031A>T
5g.90692669A>CCA360371112ADGRV1c.7016A>C (p.Asn2339Thr)
c.265+16460A>C (n.265+16460A>C)
n.2475A>C
c.823A>C
n.160A>C
c.4307A>C (p.Asn1436Thr)
c.1745A>C
n.7029A>C
c.7013A>C (p.Asn2338Thr)
c.6935A>C (p.Asn2312Thr)
c.4319A>C (p.Asn1440Thr)
c.6920A>C (p.Asn2307Thr)
c.134A>C (p.Asn45Thr)
n.7032A>C
5g.90692669A>GCA360371108ADGRV1c.7016A>G (p.Asn2339Ser)
c.265+16460A>G (n.265+16460A>G)
n.2475A>G
c.823A>G
n.160A>G
c.4307A>G (p.Asn1436Ser)
c.1745A>G
n.7029A>G
c.7013A>G (p.Asn2338Ser)
c.6935A>G (p.Asn2312Ser)
c.4319A>G (p.Asn1440Ser)
c.6920A>G (p.Asn2307Ser)
c.134A>G (p.Asn45Ser)
n.7032A>G
5g.90692669A>TCA360371110ADGRV1c.7016A>T (p.Asn2339Ile)
c.265+16460A>T (n.265+16460A>T)
n.2475A>T
c.823A>T
n.160A>T
c.4307A>T (p.Asn1436Ile)
c.1745A>T
n.7029A>T
c.7013A>T (p.Asn2338Ile)
c.6935A>T (p.Asn2312Ile)
c.4319A>T (p.Asn1440Ile)
c.6920A>T (p.Asn2307Ile)
c.134A>T (p.Asn45Ile)
n.7032A>T
5g.90692670T>ACA360371117ADGRV1c.7017T>A (p.Asn2339Lys)
c.265+16461T>A (n.265+16461T>A)
n.2476T>A
c.824T>A
n.161T>A
c.4308T>A (p.Asn1436Lys)
c.1746T>A
n.7030T>A
c.7014T>A (p.Asn2338Lys)
c.6936T>A (p.Asn2312Lys)
c.4320T>A (p.Asn1440Lys)
c.6921T>A (p.Asn2307Lys)
c.135T>A (p.Asn45Lys)
n.7033T>A
5g.90692670T>CCA445404503ADGRV1c.7017T>C (p.Asn2339=)
c.265+16461T>C (n.265+16461T>C)
n.2476T>C
c.824T>C
n.161T>C
c.4308T>C (p.Asn1436=)
c.1746T>C
n.7030T>C
c.7014T>C (p.Asn2338=)
c.6936T>C (p.Asn2312=)
c.4320T>C (p.Asn1440=)
c.6921T>C (p.Asn2307=)
c.135T>C (p.Asn45=)
n.7033T>C
5g.90692670T>GCA360371121ADGRV1c.7017T>G (p.Asn2339Lys)
c.265+16461T>G (n.265+16461T>G)
n.2476T>G
c.824T>G
n.161T>G
c.4308T>G (p.Asn1436Lys)
c.1746T>G
n.7030T>G
c.7014T>G (p.Asn2338Lys)
c.6936T>G (p.Asn2312Lys)
c.4320T>G (p.Asn1440Lys)
c.6921T>G (p.Asn2307Lys)
c.135T>G (p.Asn45Lys)
n.7033T>G
5g.90692677_90692679delCA2674567854ADGRV1c.7024_7026del (p.Ile2342del)
c.265+16468_265+16470del (n.265+16468_265+16470del)
n.2483_2485del
c.831_833del
n.168_170del
c.4315_4317del (p.Ile1439del)
c.1753_1755del
n.7037_7039del
c.7021_7023del (p.Ile2341del)
c.6943_6945del (p.Ile2315del)
c.4327_4329del (p.Ile1443del)
c.6928_6930del (p.Ile2310del)
c.142_144del (p.Ile48del)
n.7040_7042del
 ClinVar gnomAD v4
5g.90692671A=CA1562859272ADGRV1c.7018A= (p.Ile2340=)
c.265+16462A= (n.265+16462A=)
n.2477A=
c.825A=
n.162A=
c.4309A= (p.Ile1437=)
c.1747A=
n.7031A=
c.7015A= (p.Ile2339=)
c.6937A= (p.Ile2313=)
c.4321A= (p.Ile1441=)
c.6922A= (p.Ile2308=)
c.136A= (p.Ile46=)
n.7034A=
5g.90692671A>CCA360371128ADGRV1c.7018A>C (p.Ile2340Leu)
c.265+16462A>C (n.265+16462A>C)
n.2477A>C
c.825A>C
n.162A>C
c.4309A>C (p.Ile1437Leu)
c.1747A>C
n.7031A>C
c.7015A>C (p.Ile2339Leu)
c.6937A>C (p.Ile2313Leu)
c.4321A>C (p.Ile1441Leu)
c.6922A>C (p.Ile2308Leu)
c.136A>C (p.Ile46Leu)
n.7034A>C
5g.90692671A>GCA360371132ADGRV1c.7018A>G (p.Ile2340Val)
c.265+16462A>G (n.265+16462A>G)
n.2477A>G
c.825A>G
n.162A>G
c.4309A>G (p.Ile1437Val)
c.1747A>G
n.7031A>G
c.7015A>G (p.Ile2339Val)
c.6937A>G (p.Ile2313Val)
c.4321A>G (p.Ile1441Val)
c.6922A>G (p.Ile2308Val)
c.136A>G (p.Ile46Val)
n.7034A>G
 dbSNP gnomAD v2 gnomAD v4
5g.90692671A>TCA360371133ADGRV1c.7018A>T (p.Ile2340Phe)
c.265+16462A>T (n.265+16462A>T)
n.2477A>T
c.825A>T
n.162A>T
c.4309A>T (p.Ile1437Phe)
c.1747A>T
n.7031A>T
c.7015A>T (p.Ile2339Phe)
c.6937A>T (p.Ile2313Phe)
c.4321A>T (p.Ile1441Phe)
c.6922A>T (p.Ile2308Phe)
c.136A>T (p.Ile46Phe)
n.7034A>T
5g.90692672T>ACA360371136ADGRV1c.7019T>A (p.Ile2340Asn)
c.265+16463T>A (n.265+16463T>A)
n.2478T>A
c.826T>A
n.163T>A
c.4310T>A (p.Ile1437Asn)
c.1748T>A
n.7032T>A
c.7016T>A (p.Ile2339Asn)
c.6938T>A (p.Ile2313Asn)
c.4322T>A (p.Ile1441Asn)
c.6923T>A (p.Ile2308Asn)
c.137T>A (p.Ile46Asn)
n.7035T>A
5g.90692672T>CCA360371142ADGRV1c.7019T>C (p.Ile2340Thr)
c.265+16463T>C (n.265+16463T>C)
n.2478T>C
c.826T>C
n.163T>C
c.4310T>C (p.Ile1437Thr)
c.1748T>C
n.7032T>C
c.7016T>C (p.Ile2339Thr)
c.6938T>C (p.Ile2313Thr)
c.4322T>C (p.Ile1441Thr)
c.6923T>C (p.Ile2308Thr)
c.137T>C (p.Ile46Thr)
n.7035T>C
5g.90692672T>GCA360371140ADGRV1c.7019T>G (p.Ile2340Ser)
c.265+16463T>G (n.265+16463T>G)
n.2478T>G
c.826T>G
n.163T>G
c.4310T>G (p.Ile1437Ser)
c.1748T>G
n.7032T>G
c.7016T>G (p.Ile2339Ser)
c.6938T>G (p.Ile2313Ser)
c.4322T>G (p.Ile1441Ser)
c.6923T>G (p.Ile2308Ser)
c.137T>G (p.Ile46Ser)
n.7035T>G
5g.90692673T>ACA445404504ADGRV1c.7020T>A (p.Ile2340=)
c.265+16464T>A (n.265+16464T>A)
n.2479T>A
c.827T>A
n.164T>A
c.4311T>A (p.Ile1437=)
c.1749T>A
n.7033T>A
c.7017T>A (p.Ile2339=)
c.6939T>A (p.Ile2313=)
c.4323T>A (p.Ile1441=)
c.6924T>A (p.Ile2308=)
c.138T>A (p.Ile46=)
n.7036T>A
 gnomAD v4
5g.90692673T>CCA445404505ADGRV1c.7020T>C (p.Ile2340=)
c.265+16464T>C (n.265+16464T>C)
n.2479T>C
c.827T>C
n.164T>C
c.4311T>C (p.Ile1437=)
c.1749T>C
n.7033T>C
c.7017T>C (p.Ile2339=)
c.6939T>C (p.Ile2313=)
c.4323T>C (p.Ile1441=)
c.6924T>C (p.Ile2308=)
c.138T>C (p.Ile46=)
n.7036T>C
5g.90692673T>GCA360371146ADGRV1c.7020T>G (p.Ile2340Met)
c.265+16464T>G (n.265+16464T>G)
n.2479T>G
c.827T>G
n.164T>G
c.4311T>G (p.Ile1437Met)
c.1749T>G
n.7033T>G
c.7017T>G (p.Ile2339Met)
c.6939T>G (p.Ile2313Met)
c.4323T>G (p.Ile1441Met)
c.6924T>G (p.Ile2308Met)
c.138T>G (p.Ile46Met)
n.7036T>G
 COSMIC
5g.90692674A=CA1562859273ADGRV1c.7021A= (p.Ile2341=)
c.265+16465A= (n.265+16465A=)
n.2480A=
c.828A=
n.165A=
c.4312A= (p.Ile1438=)
c.1750A=
n.7034A=
c.7018A= (p.Ile2340=)
c.6940A= (p.Ile2314=)
c.4324A= (p.Ile1442=)
c.6925A= (p.Ile2309=)
c.139A= (p.Ile47=)
n.7037A=
5g.90692674A>CCA360371148ADGRV1c.7021A>C (p.Ile2341Leu)
c.265+16465A>C (n.265+16465A>C)
n.2480A>C
c.828A>C
n.165A>C
c.4312A>C (p.Ile1438Leu)
c.1750A>C
n.7034A>C
c.7018A>C (p.Ile2340Leu)
c.6940A>C (p.Ile2314Leu)
c.4324A>C (p.Ile1442Leu)
c.6925A>C (p.Ile2309Leu)
c.139A>C (p.Ile47Leu)
n.7037A>C
5g.90692674A>GCA360371153ADGRV1c.7021A>G (p.Ile2341Val)
c.265+16465A>G (n.265+16465A>G)
n.2480A>G
c.828A>G
n.165A>G
c.4312A>G (p.Ile1438Val)
c.1750A>G
n.7034A>G
c.7018A>G (p.Ile2340Val)
c.6940A>G (p.Ile2314Val)
c.4324A>G (p.Ile1442Val)
c.6925A>G (p.Ile2309Val)
c.139A>G (p.Ile47Val)
n.7037A>G
5g.90692674A>TCA360371158ADGRV1c.7021A>T (p.Ile2341Phe)
c.265+16465A>T (n.265+16465A>T)
n.2480A>T
c.828A>T
n.165A>T
c.4312A>T (p.Ile1438Phe)
c.1750A>T
n.7034A>T
c.7018A>T (p.Ile2340Phe)
c.6940A>T (p.Ile2314Phe)
c.4324A>T (p.Ile1442Phe)
c.6925A>T (p.Ile2309Phe)
c.139A>T (p.Ile47Phe)
n.7037A>T
 dbSNP gnomAD v2 gnomAD v4
5g.90692675T>ACA360371165ADGRV1c.7022T>A (p.Ile2341Asn)
c.265+16466T>A (n.265+16466T>A)
n.2481T>A
c.829T>A
n.166T>A
c.4313T>A (p.Ile1438Asn)
c.1751T>A
n.7035T>A
c.7019T>A (p.Ile2340Asn)
c.6941T>A (p.Ile2314Asn)
c.4325T>A (p.Ile1442Asn)
c.6926T>A (p.Ile2309Asn)
c.140T>A (p.Ile47Asn)
n.7038T>A
 gnomAD v4
5g.90692675T>CCA360371171ADGRV1c.7022T>C (p.Ile2341Thr)
c.265+16466T>C (n.265+16466T>C)
n.2481T>C
c.829T>C
n.166T>C
c.4313T>C (p.Ile1438Thr)
c.1751T>C
n.7035T>C
c.7019T>C (p.Ile2340Thr)
c.6941T>C (p.Ile2314Thr)
c.4325T>C (p.Ile1442Thr)
c.6926T>C (p.Ile2309Thr)
c.140T>C (p.Ile47Thr)
n.7038T>C
5g.90692675T>GCA360371172ADGRV1c.7022T>G (p.Ile2341Ser)
c.265+16466T>G (n.265+16466T>G)
n.2481T>G
c.829T>G
n.166T>G
c.4313T>G (p.Ile1438Ser)
c.1751T>G
n.7035T>G
c.7019T>G (p.Ile2340Ser)
c.6941T>G (p.Ile2314Ser)
c.4325T>G (p.Ile1442Ser)
c.6926T>G (p.Ile2309Ser)
c.140T>G (p.Ile47Ser)
n.7038T>G
5g.90692676T>ACA445404506ADGRV1c.7023T>A (p.Ile2341=)
c.265+16467T>A (n.265+16467T>A)
n.2482T>A
c.830T>A
n.167T>A
c.4314T>A (p.Ile1438=)
c.1752T>A
n.7036T>A
c.7020T>A (p.Ile2340=)
c.6942T>A (p.Ile2314=)
c.4326T>A (p.Ile1442=)
c.6927T>A (p.Ile2309=)
c.141T>A (p.Ile47=)
n.7039T>A
5g.90692676T>CCA122797187ADGRV1c.7023T>C (p.Ile2341=)
c.265+16467T>C (n.265+16467T>C)
n.2482T>C
c.830T>C
n.167T>C
c.4314T>C (p.Ile1438=)
c.1752T>C
n.7036T>C
c.7020T>C (p.Ile2340=)
c.6942T>C (p.Ile2314=)
c.4326T>C (p.Ile1442=)
c.6927T>C (p.Ile2309=)
c.141T>C (p.Ile47=)
n.7039T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90692676T>GCA360371176ADGRV1c.7023T>G (p.Ile2341Met)
c.265+16467T>G (n.265+16467T>G)
n.2482T>G
c.830T>G
n.167T>G
c.4314T>G (p.Ile1438Met)
c.1752T>G
n.7036T>G
c.7020T>G (p.Ile2340Met)
c.6942T>G (p.Ile2314Met)
c.4326T>G (p.Ile1442Met)
c.6927T>G (p.Ile2309Met)
c.141T>G (p.Ile47Met)
n.7039T>G
5g.90692676T=CA1562859274ADGRV1c.7023T= (p.Ile2341=)
c.265+16467T= (n.265+16467T=)
n.2482T=
c.830T=
n.167T=
c.4314T= (p.Ile1438=)
c.1752T=
n.7036T=
c.7020T= (p.Ile2340=)
c.6942T= (p.Ile2314=)
c.4326T= (p.Ile1442=)
c.6927T= (p.Ile2309=)
c.141T= (p.Ile47=)
n.7039T=
5g.90692677A=CA1562859275ADGRV1c.7024A= (p.Ile2342=)
c.265+16468A= (n.265+16468A=)
n.2483A=
c.831A=
n.168A=
c.4315A= (p.Ile1439=)
c.1753A=
n.7037A=
c.7021A= (p.Ile2341=)
c.6943A= (p.Ile2315=)
c.4327A= (p.Ile1443=)
c.6928A= (p.Ile2310=)
c.142A= (p.Ile48=)
n.7040A=
5g.90692677A>CCA360371181ADGRV1c.7024A>C (p.Ile2342Leu)
c.265+16468A>C (n.265+16468A>C)
n.2483A>C
c.831A>C
n.168A>C
c.4315A>C (p.Ile1439Leu)
c.1753A>C
n.7037A>C
c.7021A>C (p.Ile2341Leu)
c.6943A>C (p.Ile2315Leu)
c.4327A>C (p.Ile1443Leu)
c.6928A>C (p.Ile2310Leu)
c.142A>C (p.Ile48Leu)
n.7040A>C
5g.90692677A>GCA3339950ADGRV1c.7024A>G (p.Ile2342Val)
c.265+16468A>G (n.265+16468A>G)
n.2483A>G
c.831A>G
n.168A>G
c.4315A>G (p.Ile1439Val)
c.1753A>G
n.7037A>G
c.7021A>G (p.Ile2341Val)
c.6943A>G (p.Ile2315Val)
c.4327A>G (p.Ile1443Val)
c.6928A>G (p.Ile2310Val)
c.142A>G (p.Ile48Val)
n.7040A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692677A>TCA360371190ADGRV1c.7024A>T (p.Ile2342Phe)
c.265+16468A>T (n.265+16468A>T)
n.2483A>T
c.831A>T
n.168A>T
c.4315A>T (p.Ile1439Phe)
c.1753A>T
n.7037A>T
c.7021A>T (p.Ile2341Phe)
c.6943A>T (p.Ile2315Phe)
c.4327A>T (p.Ile1443Phe)
c.6928A>T (p.Ile2310Phe)
c.142A>T (p.Ile48Phe)
n.7040A>T
5g.90692678T>ACA360371202ADGRV1c.7025T>A (p.Ile2342Asn)
c.265+16469T>A (n.265+16469T>A)
n.2484T>A
c.832T>A
n.169T>A
c.4316T>A (p.Ile1439Asn)
c.1754T>A
n.7038T>A
c.7022T>A (p.Ile2341Asn)
c.6944T>A (p.Ile2315Asn)
c.4328T>A (p.Ile1443Asn)
c.6929T>A (p.Ile2310Asn)
c.143T>A (p.Ile48Asn)
n.7041T>A
5g.90692678T>CCA360371196ADGRV1c.7025T>C (p.Ile2342Thr)
c.265+16469T>C (n.265+16469T>C)
n.2484T>C
c.832T>C
n.169T>C
c.4316T>C (p.Ile1439Thr)
c.1754T>C
n.7038T>C
c.7022T>C (p.Ile2341Thr)
c.6944T>C (p.Ile2315Thr)
c.4328T>C (p.Ile1443Thr)
c.6929T>C (p.Ile2310Thr)
c.143T>C (p.Ile48Thr)
n.7041T>C
 gnomAD v4
5g.90692678T>GCA360371197ADGRV1c.7025T>G (p.Ile2342Ser)
c.265+16469T>G (n.265+16469T>G)
n.2484T>G
c.832T>G
n.169T>G
c.4316T>G (p.Ile1439Ser)
c.1754T>G
n.7038T>G
c.7022T>G (p.Ile2341Ser)
c.6944T>G (p.Ile2315Ser)
c.4328T>G (p.Ile1443Ser)
c.6929T>G (p.Ile2310Ser)
c.143T>G (p.Ile48Ser)
n.7041T>G
 ClinVar dbSNP
5g.90692679T>ACA445404507ADGRV1c.7026T>A (p.Ile2342=)
c.265+16470T>A (n.265+16470T>A)
n.2485T>A
c.833T>A
n.170T>A
c.4317T>A (p.Ile1439=)
c.1755T>A
n.7039T>A
c.7023T>A (p.Ile2341=)
c.6945T>A (p.Ile2315=)
c.4329T>A (p.Ile1443=)
c.6930T>A (p.Ile2310=)
c.144T>A (p.Ile48=)
n.7042T>A
5g.90692679T>CCA3339951ADGRV1c.7026T>C (p.Ile2342=)
c.265+16470T>C (n.265+16470T>C)
n.2485T>C
c.833T>C
n.170T>C
c.4317T>C (p.Ile1439=)
c.1755T>C
n.7039T>C
c.7023T>C (p.Ile2341=)
c.6945T>C (p.Ile2315=)
c.4329T>C (p.Ile1443=)
c.6930T>C (p.Ile2310=)
c.144T>C (p.Ile48=)
n.7042T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692679T>GCA360371209ADGRV1c.7026T>G (p.Ile2342Met)
c.265+16470T>G (n.265+16470T>G)
n.2485T>G
c.833T>G
n.170T>G
c.4317T>G (p.Ile1439Met)
c.1755T>G
n.7039T>G
c.7023T>G (p.Ile2341Met)
c.6945T>G (p.Ile2315Met)
c.4329T>G (p.Ile1443Met)
c.6930T>G (p.Ile2310Met)
c.144T>G (p.Ile48Met)
n.7042T>G
5g.90692679T=CA1562859276ADGRV1c.7026T= (p.Ile2342=)
c.265+16470T= (n.265+16470T=)
n.2485T=
c.833T=
n.170T=
c.4317T= (p.Ile1439=)
c.1755T=
n.7039T=
c.7023T= (p.Ile2341=)
c.6945T= (p.Ile2315=)
c.4329T= (p.Ile1443=)
c.6930T= (p.Ile2310=)
c.144T= (p.Ile48=)
n.7042T=
5g.90692680C>ACA360371213ADGRV1c.7027C>A (p.Pro2343Thr)
c.265+16471C>A (n.265+16471C>A)
n.2486C>A
c.834C>A
n.171C>A
c.4318C>A (p.Pro1440Thr)
c.1756C>A
n.7040C>A
c.7024C>A (p.Pro2342Thr)
c.6946C>A (p.Pro2316Thr)
c.4330C>A (p.Pro1444Thr)
c.6931C>A (p.Pro2311Thr)
c.145C>A (p.Pro49Thr)
n.7043C>A
 gnomAD v4
5g.90692680C=CA1562859277ADGRV1c.7027C= (p.Pro2343=)
c.265+16471C= (n.265+16471C=)
n.2486C=
c.834C=
n.171C=
c.4318C= (p.Pro1440=)
c.1756C=
n.7040C=
c.7024C= (p.Pro2342=)
c.6946C= (p.Pro2316=)
c.4330C= (p.Pro1444=)
c.6931C= (p.Pro2311=)
c.145C= (p.Pro49=)
n.7043C=
5g.90692680C>GCA360371214ADGRV1c.7027C>G (p.Pro2343Ala)
c.265+16471C>G (n.265+16471C>G)
n.2486C>G
c.834C>G
n.171C>G
c.4318C>G (p.Pro1440Ala)
c.1756C>G
n.7040C>G
c.7024C>G (p.Pro2342Ala)
c.6946C>G (p.Pro2316Ala)
c.4330C>G (p.Pro1444Ala)
c.6931C>G (p.Pro2311Ala)
c.145C>G (p.Pro49Ala)
n.7043C>G
 dbSNP gnomAD v4
5g.90692680C>TCA360371215ADGRV1c.7027C>T (p.Pro2343Ser)
c.265+16471C>T (n.265+16471C>T)
n.2486C>T
c.834C>T
n.171C>T
c.4318C>T (p.Pro1440Ser)
c.1756C>T
n.7040C>T
c.7024C>T (p.Pro2342Ser)
c.6946C>T (p.Pro2316Ser)
c.4330C>T (p.Pro1444Ser)
c.6931C>T (p.Pro2311Ser)
c.145C>T (p.Pro49Ser)
n.7043C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90692681C>ACA360371216ADGRV1c.7028C>A (p.Pro2343His)
c.265+16472C>A (n.265+16472C>A)
n.2487C>A
c.835C>A
n.172C>A
c.4319C>A (p.Pro1440His)
c.1757C>A
n.7041C>A
c.7025C>A (p.Pro2342His)
c.6947C>A (p.Pro2316His)
c.4331C>A (p.Pro1444His)
c.6932C>A (p.Pro2311His)
c.146C>A (p.Pro49His)
n.7044C>A
5g.90692681C=CA1562859278ADGRV1c.7028C= (p.Pro2343=)
c.265+16472C= (n.265+16472C=)
n.2487C=
c.835C=
n.172C=
c.4319C= (p.Pro1440=)
c.1757C=
n.7041C=
c.7025C= (p.Pro2342=)
c.6947C= (p.Pro2316=)
c.4331C= (p.Pro1444=)
c.6932C= (p.Pro2311=)
c.146C= (p.Pro49=)
n.7044C=
5g.90692681C>GCA360371218ADGRV1c.7028C>G (p.Pro2343Arg)
c.265+16472C>G (n.265+16472C>G)
n.2487C>G
c.835C>G
n.172C>G
c.4319C>G (p.Pro1440Arg)
c.1757C>G
n.7041C>G
c.7025C>G (p.Pro2342Arg)
c.6947C>G (p.Pro2316Arg)
c.4331C>G (p.Pro1444Arg)
c.6932C>G (p.Pro2311Arg)
c.146C>G (p.Pro49Arg)
n.7044C>G
5g.90692681C>TCA360371219ADGRV1c.7028C>T (p.Pro2343Leu)
c.265+16472C>T (n.265+16472C>T)
n.2487C>T
c.835C>T
n.172C>T
c.4319C>T (p.Pro1440Leu)
c.1757C>T
n.7041C>T
c.7025C>T (p.Pro2342Leu)
c.6947C>T (p.Pro2316Leu)
c.4331C>T (p.Pro1444Leu)
c.6932C>T (p.Pro2311Leu)
c.146C>T (p.Pro49Leu)
n.7044C>T
 dbSNP gnomAD v2
5g.90692682T>ACA445404508ADGRV1c.7029T>A (p.Pro2343=)
c.265+16473T>A (n.265+16473T>A)
n.2488T>A
c.836T>A
n.173T>A
c.4320T>A (p.Pro1440=)
c.1758T>A
n.7042T>A
c.7026T>A (p.Pro2342=)
c.6948T>A (p.Pro2316=)
c.4332T>A (p.Pro1444=)
c.6933T>A (p.Pro2311=)
c.147T>A (p.Pro49=)
n.7045T>A
5g.90692682T>CCA445404510ADGRV1c.7029T>C (p.Pro2343=)
c.265+16473T>C (n.265+16473T>C)
n.2488T>C
c.836T>C
n.173T>C
c.4320T>C (p.Pro1440=)
c.1758T>C
n.7042T>C
c.7026T>C (p.Pro2342=)
c.6948T>C (p.Pro2316=)
c.4332T>C (p.Pro1444=)
c.6933T>C (p.Pro2311=)
c.147T>C (p.Pro49=)
n.7045T>C
5g.90692682T>GCA445404509ADGRV1c.7029T>G (p.Pro2343=)
c.265+16473T>G (n.265+16473T>G)
n.2488T>G
c.836T>G
n.173T>G
c.4320T>G (p.Pro1440=)
c.1758T>G
n.7042T>G
c.7026T>G (p.Pro2342=)
c.6948T>G (p.Pro2316=)
c.4332T>G (p.Pro1444=)
c.6933T>G (p.Pro2311=)
c.147T>G (p.Pro49=)
n.7045T>G
5g.90692683G>ACA360371220ADGRV1c.7030G>A (p.Ala2344Thr)
c.265+16474G>A (n.265+16474G>A)
n.2489G>A
c.837G>A
n.174G>A
c.4321G>A (p.Ala1441Thr)
c.1759G>A
n.7043G>A
c.7027G>A (p.Ala2343Thr)
c.6949G>A (p.Ala2317Thr)
c.4333G>A (p.Ala1445Thr)
c.6934G>A (p.Ala2312Thr)
c.148G>A (p.Ala50Thr)
n.7046G>A
5g.90692683G>CCA360371225ADGRV1c.7030G>C (p.Ala2344Pro)
c.265+16474G>C (n.265+16474G>C)
n.2489G>C
c.837G>C
n.174G>C
c.4321G>C (p.Ala1441Pro)
c.1759G>C
n.7043G>C
c.7027G>C (p.Ala2343Pro)
c.6949G>C (p.Ala2317Pro)
c.4333G>C (p.Ala1445Pro)
c.6934G>C (p.Ala2312Pro)
c.148G>C (p.Ala50Pro)
n.7046G>C
5g.90692683G=CA1562859279ADGRV1c.7030G= (p.Ala2344=)
c.265+16474G= (n.265+16474G=)
n.2489G=
c.837G=
n.174G=
c.4321G= (p.Ala1441=)
c.1759G=
n.7043G=
c.7027G= (p.Ala2343=)
c.6949G= (p.Ala2317=)
c.4333G= (p.Ala1445=)
c.6934G= (p.Ala2312=)
c.148G= (p.Ala50=)
n.7046G=
5g.90692683G>TCA3339952ADGRV1c.7030G>T (p.Ala2344Ser)
c.265+16474G>T (n.265+16474G>T)
n.2489G>T
c.837G>T
n.174G>T
c.4321G>T (p.Ala1441Ser)
c.1759G>T
n.7043G>T
c.7027G>T (p.Ala2343Ser)
c.6949G>T (p.Ala2317Ser)
c.4333G>T (p.Ala1445Ser)
c.6934G>T (p.Ala2312Ser)
c.148G>T (p.Ala50Ser)
n.7046G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692684C>ACA360371228ADGRV1c.7031C>A (p.Ala2344Asp)
c.265+16475C>A (n.265+16475C>A)
n.2490C>A
c.838C>A
n.175C>A
c.4322C>A (p.Ala1441Asp)
c.1760C>A
n.7044C>A
c.7028C>A (p.Ala2343Asp)
c.6950C>A (p.Ala2317Asp)
c.4334C>A (p.Ala1445Asp)
c.6935C>A (p.Ala2312Asp)
c.149C>A (p.Ala50Asp)
n.7047C>A
5g.90692684C=CA1562859280ADGRV1c.7031C= (p.Ala2344=)
c.265+16475C= (n.265+16475C=)
n.2490C=
c.838C=
n.175C=
c.4322C= (p.Ala1441=)
c.1760C=
n.7044C=
c.7028C= (p.Ala2343=)
c.6950C= (p.Ala2317=)
c.4334C= (p.Ala1445=)
c.6935C= (p.Ala2312=)
c.149C= (p.Ala50=)
n.7047C=
5g.90692684C>GCA360371229ADGRV1c.7031C>G (p.Ala2344Gly)
c.265+16475C>G (n.265+16475C>G)
n.2490C>G
c.838C>G
n.175C>G
c.4322C>G (p.Ala1441Gly)
c.1760C>G
n.7044C>G
c.7028C>G (p.Ala2343Gly)
c.6950C>G (p.Ala2317Gly)
c.4334C>G (p.Ala1445Gly)
c.6935C>G (p.Ala2312Gly)
c.149C>G (p.Ala50Gly)
n.7047C>G
5g.90692684C>TCA3339953ADGRV1c.7031C>T (p.Ala2344Val)
c.265+16475C>T (n.265+16475C>T)
n.2490C>T
c.838C>T
n.175C>T
c.4322C>T (p.Ala1441Val)
c.1760C>T
n.7044C>T
c.7028C>T (p.Ala2343Val)
c.6950C>T (p.Ala2317Val)
c.4334C>T (p.Ala1445Val)
c.6935C>T (p.Ala2312Val)
c.149C>T (p.Ala50Val)
n.7047C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692685C>ACA445404511ADGRV1c.7032C>A (p.Ala2344=)
c.265+16476C>A (n.265+16476C>A)
n.2491C>A
c.839C>A
n.176C>A
c.4323C>A (p.Ala1441=)
c.1761C>A
n.7045C>A
c.7029C>A (p.Ala2343=)
c.6951C>A (p.Ala2317=)
c.4335C>A (p.Ala1445=)
c.6936C>A (p.Ala2312=)
c.150C>A (p.Ala50=)
n.7048C>A
5g.90692685C=CA1562859281ADGRV1c.7032C= (p.Ala2344=)
c.265+16476C= (n.265+16476C=)
n.2491C=
c.839C=
n.176C=
c.4323C= (p.Ala1441=)
c.1761C=
n.7045C=
c.7029C= (p.Ala2343=)
c.6951C= (p.Ala2317=)
c.4335C= (p.Ala1445=)
c.6936C= (p.Ala2312=)
c.150C= (p.Ala50=)
n.7048C=
5g.90692685C>GCA445404512ADGRV1c.7032C>G (p.Ala2344=)
c.265+16476C>G (n.265+16476C>G)
n.2491C>G
c.839C>G
n.176C>G
c.4323C>G (p.Ala1441=)
c.1761C>G
n.7045C>G
c.7029C>G (p.Ala2343=)
c.6951C>G (p.Ala2317=)
c.4335C>G (p.Ala1445=)
c.6936C>G (p.Ala2312=)
c.150C>G (p.Ala50=)
n.7048C>G
5g.90692685C>TCA3339954ADGRV1c.7032C>T (p.Ala2344=)
c.265+16476C>T (n.265+16476C>T)
n.2491C>T
c.839C>T
n.176C>T
c.4323C>T (p.Ala1441=)
c.1761C>T
n.7045C>T
c.7029C>T (p.Ala2343=)
c.6951C>T (p.Ala2317=)
c.4335C>T (p.Ala1445=)
c.6936C>T (p.Ala2312=)
c.150C>T (p.Ala50=)
n.7048C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692686A>CCA360371257ADGRV1c.7033A>C (p.Asn2345His)
c.265+16477A>C (n.265+16477A>C)
n.2492A>C
c.840A>C
n.177A>C
c.4324A>C (p.Asn1442His)
c.1762A>C
n.7046A>C
c.7030A>C (p.Asn2344His)
c.6952A>C (p.Asn2318His)
c.4336A>C (p.Asn1446His)
c.6937A>C (p.Asn2313His)
c.151A>C (p.Asn51His)
n.7049A>C
5g.90692686A>GCA360371246ADGRV1c.7033A>G (p.Asn2345Asp)
c.265+16477A>G (n.265+16477A>G)
n.2492A>G
c.840A>G
n.177A>G
c.4324A>G (p.Asn1442Asp)
c.1762A>G
n.7046A>G
c.7030A>G (p.Asn2344Asp)
c.6952A>G (p.Asn2318Asp)
c.4336A>G (p.Asn1446Asp)
c.6937A>G (p.Asn2313Asp)
c.151A>G (p.Asn51Asp)
n.7049A>G
 gnomAD v4
5g.90692686A>TCA360371253ADGRV1c.7033A>T (p.Asn2345Tyr)
c.265+16477A>T (n.265+16477A>T)
n.2492A>T
c.840A>T
n.177A>T
c.4324A>T (p.Asn1442Tyr)
c.1762A>T
n.7046A>T
c.7030A>T (p.Asn2344Tyr)
c.6952A>T (p.Asn2318Tyr)
c.4336A>T (p.Asn1446Tyr)
c.6937A>T (p.Asn2313Tyr)
c.151A>T (p.Asn51Tyr)
n.7049A>T
5g.90692687A=CA1562859282ADGRV1c.7034A= (p.Asn2345=)
c.265+16478A= (n.265+16478A=)
n.2493A=
c.841A=
n.178A=
c.4325A= (p.Asn1442=)
c.1763A=
n.7047A=
c.7031A= (p.Asn2344=)
c.6953A= (p.Asn2318=)
c.4337A= (p.Asn1446=)
c.6938A= (p.Asn2313=)
c.152A= (p.Asn51=)
n.7050A=
5g.90692687A>CCA360371260ADGRV1c.7034A>C (p.Asn2345Thr)
c.265+16478A>C (n.265+16478A>C)
n.2493A>C
c.841A>C
n.178A>C
c.4325A>C (p.Asn1442Thr)
c.1763A>C
n.7047A>C
c.7031A>C (p.Asn2344Thr)
c.6953A>C (p.Asn2318Thr)
c.4337A>C (p.Asn1446Thr)
c.6938A>C (p.Asn2313Thr)
c.152A>C (p.Asn51Thr)
n.7050A>C
 gnomAD v4
5g.90692687A>GCA138190ADGRV1c.7034A>G (p.Asn2345Ser)
c.265+16478A>G (n.265+16478A>G)
n.2493A>G
c.841A>G
n.178A>G
c.4325A>G (p.Asn1442Ser)
c.1763A>G
n.7047A>G
c.7031A>G (p.Asn2344Ser)
c.6953A>G (p.Asn2318Ser)
c.4337A>G (p.Asn1446Ser)
c.6938A>G (p.Asn2313Ser)
c.152A>G (p.Asn51Ser)
n.7050A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692687A>TCA360371273ADGRV1c.7034A>T (p.Asn2345Ile)
c.265+16478A>T (n.265+16478A>T)
n.2493A>T
c.841A>T
n.178A>T
c.4325A>T (p.Asn1442Ile)
c.1763A>T
n.7047A>T
c.7031A>T (p.Asn2344Ile)
c.6953A>T (p.Asn2318Ile)
c.4337A>T (p.Asn1446Ile)
c.6938A>T (p.Asn2313Ile)
c.152A>T (p.Asn51Ile)
n.7050A>T
 ClinVar dbSNP gnomAD v4
5g.90692688T>ACA360371277ADGRV1c.7035T>A (p.Asn2345Lys)
c.265+16479T>A (n.265+16479T>A)
n.2494T>A
c.842T>A
n.179T>A
c.4326T>A (p.Asn1442Lys)
c.1764T>A
n.7048T>A
c.7032T>A (p.Asn2344Lys)
c.6954T>A (p.Asn2318Lys)
c.4338T>A (p.Asn1446Lys)
c.6939T>A (p.Asn2313Lys)
c.153T>A (p.Asn51Lys)
n.7051T>A
5g.90692688T>CCA445404513ADGRV1c.7035T>C (p.Asn2345=)
c.265+16479T>C (n.265+16479T>C)
n.2494T>C
c.842T>C
n.179T>C
c.4326T>C (p.Asn1442=)
c.1764T>C
n.7048T>C
c.7032T>C (p.Asn2344=)
c.6954T>C (p.Asn2318=)
c.4338T>C (p.Asn1446=)
c.6939T>C (p.Asn2313=)
c.153T>C (p.Asn51=)
n.7051T>C
 gnomAD v4
5g.90692688T>GCA360371279ADGRV1c.7035T>G (p.Asn2345Lys)
c.265+16479T>G (n.265+16479T>G)
n.2494T>G
c.842T>G
n.179T>G
c.4326T>G (p.Asn1442Lys)
c.1764T>G
n.7048T>G
c.7032T>G (p.Asn2344Lys)
c.6954T>G (p.Asn2318Lys)
c.4338T>G (p.Asn1446Lys)
c.6939T>G (p.Asn2313Lys)
c.153T>G (p.Asn51Lys)
n.7051T>G
5g.90692689G>ACA360371283ADGRV1c.7036G>A (p.Asp2346Asn)
c.265+16480G>A (n.265+16480G>A)
n.2495G>A
c.843G>A
n.180G>A
c.4327G>A (p.Asp1443Asn)
c.1765G>A
n.7049G>A
c.7033G>A (p.Asp2345Asn)
c.6955G>A (p.Asp2319Asn)
c.4339G>A (p.Asp1447Asn)
c.6940G>A (p.Asp2314Asn)
c.154G>A (p.Asp52Asn)
n.7052G>A
5g.90692689G>CCA360371286ADGRV1c.7036G>C (p.Asp2346His)
c.265+16480G>C (n.265+16480G>C)
n.2495G>C
c.843G>C
n.180G>C
c.4327G>C (p.Asp1443His)
c.1765G>C
n.7049G>C
c.7033G>C (p.Asp2345His)
c.6955G>C (p.Asp2319His)
c.4339G>C (p.Asp1447His)
c.6940G>C (p.Asp2314His)
c.154G>C (p.Asp52His)
n.7052G>C
 dbSNP gnomAD v3 gnomAD v4
5g.90692689G=CA1562859283ADGRV1c.7036G= (p.Asp2346=)
c.265+16480G= (n.265+16480G=)
n.2495G=
c.843G=
n.180G=
c.4327G= (p.Asp1443=)
c.1765G=
n.7049G=
c.7033G= (p.Asp2345=)
c.6955G= (p.Asp2319=)
c.4339G= (p.Asp1447=)
c.6940G= (p.Asp2314=)
c.154G= (p.Asp52=)
n.7052G=
5g.90692689G>TCA360371287ADGRV1c.7036G>T (p.Asp2346Tyr)
c.265+16480G>T (n.265+16480G>T)
n.2495G>T
c.843G>T
n.180G>T
c.4327G>T (p.Asp1443Tyr)
c.1765G>T
n.7049G>T
c.7033G>T (p.Asp2345Tyr)
c.6955G>T (p.Asp2319Tyr)
c.4339G>T (p.Asp1447Tyr)
c.6940G>T (p.Asp2314Tyr)
c.154G>T (p.Asp52Tyr)
n.7052G>T
5g.90692690A>CCA360371291ADGRV1c.7037A>C (p.Asp2346Ala)
c.265+16481A>C (n.265+16481A>C)
n.2496A>C
c.844A>C
n.181A>C
c.4328A>C (p.Asp1443Ala)
c.1766A>C
n.7050A>C
c.7034A>C (p.Asp2345Ala)
c.6956A>C (p.Asp2319Ala)
c.4340A>C (p.Asp1447Ala)
c.6941A>C (p.Asp2314Ala)
c.155A>C (p.Asp52Ala)
n.7053A>C
5g.90692690A>GCA360371296ADGRV1c.7037A>G (p.Asp2346Gly)
c.265+16481A>G (n.265+16481A>G)
n.2496A>G
c.844A>G
n.181A>G
c.4328A>G (p.Asp1443Gly)
c.1766A>G
n.7050A>G
c.7034A>G (p.Asp2345Gly)
c.6956A>G (p.Asp2319Gly)
c.4340A>G (p.Asp1447Gly)
c.6941A>G (p.Asp2314Gly)
c.155A>G (p.Asp52Gly)
n.7053A>G
 gnomAD v4
5g.90692690A>TCA360371299ADGRV1c.7037A>T (p.Asp2346Val)
c.265+16481A>T (n.265+16481A>T)
n.2496A>T
c.844A>T
n.181A>T
c.4328A>T (p.Asp1443Val)
c.1766A>T
n.7050A>T
c.7034A>T (p.Asp2345Val)
c.6956A>T (p.Asp2319Val)
c.4340A>T (p.Asp1447Val)
c.6941A>T (p.Asp2314Val)
c.155A>T (p.Asp52Val)
n.7053A>T
5g.90692691T>ACA360371300ADGRV1c.7038T>A (p.Asp2346Glu)
c.265+16482T>A (n.265+16482T>A)
n.2497T>A
c.845T>A
n.182T>A
c.4329T>A (p.Asp1443Glu)
c.1767T>A
n.7051T>A
c.7035T>A (p.Asp2345Glu)
c.6957T>A (p.Asp2319Glu)
c.4341T>A (p.Asp1447Glu)
c.6942T>A (p.Asp2314Glu)
c.156T>A (p.Asp52Glu)
n.7054T>A
5g.90692691T>CCA445404514ADGRV1c.7038T>C (p.Asp2346=)
c.265+16482T>C (n.265+16482T>C)
n.2497T>C
c.845T>C
n.182T>C
c.4329T>C (p.Asp1443=)
c.1767T>C
n.7051T>C
c.7035T>C (p.Asp2345=)
c.6957T>C (p.Asp2319=)
c.4341T>C (p.Asp1447=)
c.6942T>C (p.Asp2314=)
c.156T>C (p.Asp52=)
n.7054T>C
5g.90692691T>GCA360371301ADGRV1c.7038T>G (p.Asp2346Glu)
c.265+16482T>G (n.265+16482T>G)
n.2497T>G
c.845T>G
n.182T>G
c.4329T>G (p.Asp1443Glu)
c.1767T>G
n.7051T>G
c.7035T>G (p.Asp2345Glu)
c.6957T>G (p.Asp2319Glu)
c.4341T>G (p.Asp1447Glu)
c.6942T>G (p.Asp2314Glu)
c.156T>G (p.Asp52Glu)
n.7054T>G
5g.90692692G>ACA360371326ADGRV1c.7039G>A (p.Asp2347Asn)
c.265+16483G>A (n.265+16483G>A)
n.2498G>A
c.846G>A
n.183G>A
c.4330G>A (p.Asp1444Asn)
c.1768G>A
n.7052G>A
c.7036G>A (p.Asp2346Asn)
c.6958G>A (p.Asp2320Asn)
c.4342G>A (p.Asp1448Asn)
c.6943G>A (p.Asp2315Asn)
c.157G>A (p.Asp53Asn)
n.7055G>A
 dbSNP gnomAD v4 COSMIC
5g.90692692G>CCA360371332ADGRV1c.7039G>C (p.Asp2347His)
c.265+16483G>C (n.265+16483G>C)
n.2498G>C
c.846G>C
n.183G>C
c.4330G>C (p.Asp1444His)
c.1768G>C
n.7052G>C
c.7036G>C (p.Asp2346His)
c.6958G>C (p.Asp2320His)
c.4342G>C (p.Asp1448His)
c.6943G>C (p.Asp2315His)
c.157G>C (p.Asp53His)
n.7055G>C
5g.90692692G>TCA360371331ADGRV1c.7039G>T (p.Asp2347Tyr)
c.265+16483G>T (n.265+16483G>T)
n.2498G>T
c.846G>T
n.183G>T
c.4330G>T (p.Asp1444Tyr)
c.1768G>T
n.7052G>T
c.7036G>T (p.Asp2346Tyr)
c.6958G>T (p.Asp2320Tyr)
c.4342G>T (p.Asp1448Tyr)
c.6943G>T (p.Asp2315Tyr)
c.157G>T (p.Asp53Tyr)
n.7055G>T
5g.90692693A>CCA360371335ADGRV1c.7040A>C (p.Asp2347Ala)
c.265+16484A>C (n.265+16484A>C)
n.2499A>C
c.847A>C
n.184A>C
c.4331A>C (p.Asp1444Ala)
c.1769A>C
n.7053A>C
c.7037A>C (p.Asp2346Ala)
c.6959A>C (p.Asp2320Ala)
c.4343A>C (p.Asp1448Ala)
c.6944A>C (p.Asp2315Ala)
c.158A>C (p.Asp53Ala)
n.7056A>C
5g.90692693A>GCA360371337ADGRV1c.7040A>G (p.Asp2347Gly)
c.265+16484A>G (n.265+16484A>G)
n.2499A>G
c.847A>G
n.184A>G
c.4331A>G (p.Asp1444Gly)
c.1769A>G
n.7053A>G
c.7037A>G (p.Asp2346Gly)
c.6959A>G (p.Asp2320Gly)
c.4343A>G (p.Asp1448Gly)
c.6944A>G (p.Asp2315Gly)
c.158A>G (p.Asp53Gly)
n.7056A>G
5g.90692693A>TCA360371338ADGRV1c.7040A>T (p.Asp2347Val)
c.265+16484A>T (n.265+16484A>T)
n.2499A>T
c.847A>T
n.184A>T
c.4331A>T (p.Asp1444Val)
c.1769A>T
n.7053A>T
c.7037A>T (p.Asp2346Val)
c.6959A>T (p.Asp2320Val)
c.4343A>T (p.Asp1448Val)
c.6944A>T (p.Asp2315Val)
c.158A>T (p.Asp53Val)
n.7056A>T
5g.90692694T>ACA3339955ADGRV1c.7041T>A (p.Asp2347Glu)
c.265+16485T>A (n.265+16485T>A)
n.2500T>A
c.848T>A
n.185T>A
c.4332T>A (p.Asp1444Glu)
c.1770T>A
n.7054T>A
c.7038T>A (p.Asp2346Glu)
c.6960T>A (p.Asp2320Glu)
c.4344T>A (p.Asp1448Glu)
c.6945T>A (p.Asp2315Glu)
c.159T>A (p.Asp53Glu)
n.7057T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692694T>CCA445404515ADGRV1c.7041T>C (p.Asp2347=)
c.265+16485T>C (n.265+16485T>C)
n.2500T>C
c.848T>C
n.185T>C
c.4332T>C (p.Asp1444=)
c.1770T>C
n.7054T>C
c.7038T>C (p.Asp2346=)
c.6960T>C (p.Asp2320=)
c.4344T>C (p.Asp1448=)
c.6945T>C (p.Asp2315=)
c.159T>C (p.Asp53=)
n.7057T>C
5g.90692694T>GCA360371348ADGRV1c.7041T>G (p.Asp2347Glu)
c.265+16485T>G (n.265+16485T>G)
n.2500T>G
c.848T>G
n.185T>G
c.4332T>G (p.Asp1444Glu)
c.1770T>G
n.7054T>G
c.7038T>G (p.Asp2346Glu)
c.6960T>G (p.Asp2320Glu)
c.4344T>G (p.Asp1448Glu)
c.6945T>G (p.Asp2315Glu)
c.159T>G (p.Asp53Glu)
n.7057T>G
 ClinVar
5g.90692694T=CA1562859284ADGRV1c.7041T= (p.Asp2347=)
c.265+16485T= (n.265+16485T=)
n.2500T=
c.848T=
n.185T=
c.4332T= (p.Asp1444=)
c.1770T=
n.7054T=
c.7038T= (p.Asp2346=)
c.6960T= (p.Asp2320=)
c.4344T= (p.Asp1448=)
c.6945T= (p.Asp2315=)
c.159T= (p.Asp53=)
n.7057T=
5g.90692695C>ACA360371357ADGRV1c.7042C>A (p.Pro2348Thr)
c.265+16486C>A (n.265+16486C>A)
n.2501C>A
c.849C>A
n.186C>A
c.4333C>A (p.Pro1445Thr)
c.1771C>A
n.7055C>A
c.7039C>A (p.Pro2347Thr)
c.6961C>A (p.Pro2321Thr)
c.4345C>A (p.Pro1449Thr)
c.6946C>A (p.Pro2316Thr)
c.160C>A (p.Pro54Thr)
n.7058C>A
5g.90692695C=CA1562859285ADGRV1c.7042C= (p.Pro2348=)
c.265+16486C= (n.265+16486C=)
n.2501C=
c.849C=
n.186C=
c.4333C= (p.Pro1445=)
c.1771C=
n.7055C=
c.7039C= (p.Pro2347=)
c.6961C= (p.Pro2321=)
c.4345C= (p.Pro1449=)
c.6946C= (p.Pro2316=)
c.160C= (p.Pro54=)
n.7058C=
5g.90692695C>GCA360371355ADGRV1c.7042C>G (p.Pro2348Ala)
c.265+16486C>G (n.265+16486C>G)
n.2501C>G
c.849C>G
n.186C>G
c.4333C>G (p.Pro1445Ala)
c.1771C>G
n.7055C>G
c.7039C>G (p.Pro2347Ala)
c.6961C>G (p.Pro2321Ala)
c.4345C>G (p.Pro1449Ala)
c.6946C>G (p.Pro2316Ala)
c.160C>G (p.Pro54Ala)
n.7058C>G
5g.90692695C>TCA360371353ADGRV1c.7042C>T (p.Pro2348Ser)
c.265+16486C>T (n.265+16486C>T)
n.2501C>T
c.849C>T
n.186C>T
c.4333C>T (p.Pro1445Ser)
c.1771C>T
n.7055C>T
c.7039C>T (p.Pro2347Ser)
c.6961C>T (p.Pro2321Ser)
c.4345C>T (p.Pro1449Ser)
c.6946C>T (p.Pro2316Ser)
c.160C>T (p.Pro54Ser)
n.7058C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90692695_90692696delinsTTCA645559071ADGRV1c.7042_7043delinsTT (p.Pro2348Phe)
c.265+16486_265+16487delinsTT (n.265+16486_265+16487delinsTT)
n.2501_2502delinsTT
c.849_850delinsTT
n.186_187delinsTT
c.4333_4334delinsTT (p.Pro1445Phe)
c.1771_1772delinsTT
n.7055_7056delinsTT
c.7039_7040delinsTT (p.Pro2347Phe)
c.6961_6962delinsTT (p.Pro2321Phe)
c.4345_4346delinsTT (p.Pro1449Phe)
c.6946_6947delinsTT (p.Pro2316Phe)
c.160_161delinsTT (p.Pro54Phe)
n.7058_7059delinsTT
 COSMIC
5g.90692696C>ACA360371358ADGRV1c.7043C>A (p.Pro2348His)
c.265+16487C>A (n.265+16487C>A)
n.2502C>A
c.850C>A
n.187C>A
c.4334C>A (p.Pro1445His)
c.1772C>A
n.7056C>A
c.7040C>A (p.Pro2347His)
c.6962C>A (p.Pro2321His)
c.4346C>A (p.Pro1449His)
c.6947C>A (p.Pro2316His)
c.161C>A (p.Pro54His)
n.7059C>A
 gnomAD v4
5g.90692696C>GCA360371362ADGRV1c.7043C>G (p.Pro2348Arg)
c.265+16487C>G (n.265+16487C>G)
n.2502C>G
c.850C>G
n.187C>G
c.4334C>G (p.Pro1445Arg)
c.1772C>G
n.7056C>G
c.7040C>G (p.Pro2347Arg)
c.6962C>G (p.Pro2321Arg)
c.4346C>G (p.Pro1449Arg)
c.6947C>G (p.Pro2316Arg)
c.161C>G (p.Pro54Arg)
n.7059C>G
5g.90692696C>TCA360371365ADGRV1c.7043C>T (p.Pro2348Leu)
c.265+16487C>T (n.265+16487C>T)
n.2502C>T
c.850C>T
n.187C>T
c.4334C>T (p.Pro1445Leu)
c.1772C>T
n.7056C>T
c.7040C>T (p.Pro2347Leu)
c.6962C>T (p.Pro2321Leu)
c.4346C>T (p.Pro1449Leu)
c.6947C>T (p.Pro2316Leu)
c.161C>T (p.Pro54Leu)
n.7059C>T
 gnomAD v4
5g.90692697T>ACA445404516ADGRV1c.7044T>A (p.Pro2348=)
c.265+16488T>A (n.265+16488T>A)
n.2503T>A
c.851T>A
n.188T>A
c.4335T>A (p.Pro1445=)
c.1773T>A
n.7057T>A
c.7041T>A (p.Pro2347=)
c.6963T>A (p.Pro2321=)
c.4347T>A (p.Pro1449=)
c.6948T>A (p.Pro2316=)
c.162T>A (p.Pro54=)
n.7060T>A
 dbSNP gnomAD v2 gnomAD v4
5g.90692697T>CCA445404518ADGRV1c.7044T>C (p.Pro2348=)
c.265+16488T>C (n.265+16488T>C)
n.2503T>C
c.851T>C
n.188T>C
c.4335T>C (p.Pro1445=)
c.1773T>C
n.7057T>C
c.7041T>C (p.Pro2347=)
c.6963T>C (p.Pro2321=)
c.4347T>C (p.Pro1449=)
c.6948T>C (p.Pro2316=)
c.162T>C (p.Pro54=)
n.7060T>C
5g.90692697T>GCA445404517ADGRV1c.7044T>G (p.Pro2348=)
c.265+16488T>G (n.265+16488T>G)
n.2503T>G
c.851T>G
n.188T>G
c.4335T>G (p.Pro1445=)
c.1773T>G
n.7057T>G
c.7041T>G (p.Pro2347=)
c.6963T>G (p.Pro2321=)
c.4347T>G (p.Pro1449=)
c.6948T>G (p.Pro2316=)
c.162T>G (p.Pro54=)
n.7060T>G
5g.90692697T=CA1562859286ADGRV1c.7044T= (p.Pro2348=)
c.265+16488T= (n.265+16488T=)
n.2503T=
c.851T=
n.188T=
c.4335T= (p.Pro1445=)
c.1773T=
n.7057T=
c.7041T= (p.Pro2347=)
c.6963T= (p.Pro2321=)
c.4347T= (p.Pro1449=)
c.6948T= (p.Pro2316=)
c.162T= (p.Pro54=)
n.7060T=
5g.90692698T>ACA360371369ADGRV1c.7045T>A (p.Tyr2349Asn)
c.265+16489T>A (n.265+16489T>A)
n.2504T>A
c.852T>A
n.189T>A
c.4336T>A (p.Tyr1446Asn)
c.1774T>A
n.7058T>A
c.7042T>A (p.Tyr2348Asn)
c.6964T>A (p.Tyr2322Asn)
c.4348T>A (p.Tyr1450Asn)
c.6949T>A (p.Tyr2317Asn)
c.163T>A (p.Tyr55Asn)
n.7061T>A
5g.90692698T>CCA360371370ADGRV1c.7045T>C (p.Tyr2349His)
c.265+16489T>C (n.265+16489T>C)
n.2504T>C
c.852T>C
n.189T>C
c.4336T>C (p.Tyr1446His)
c.1774T>C
n.7058T>C
c.7042T>C (p.Tyr2348His)
c.6964T>C (p.Tyr2322His)
c.4348T>C (p.Tyr1450His)
c.6949T>C (p.Tyr2317His)
c.163T>C (p.Tyr55His)
n.7061T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692698T>GCA360371371ADGRV1c.7045T>G (p.Tyr2349Asp)
c.265+16489T>G (n.265+16489T>G)
n.2504T>G
c.852T>G
n.189T>G
c.4336T>G (p.Tyr1446Asp)
c.1774T>G
n.7058T>G
c.7042T>G (p.Tyr2348Asp)
c.6964T>G (p.Tyr2322Asp)
c.4348T>G (p.Tyr1450Asp)
c.6949T>G (p.Tyr2317Asp)
c.163T>G (p.Tyr55Asp)
n.7061T>G
 dbSNP gnomAD v2 gnomAD v4
5g.90692698T=CA1562859287ADGRV1c.7045T= (p.Tyr2349=)
c.265+16489T= (n.265+16489T=)
n.2504T=
c.852T=
n.189T=
c.4336T= (p.Tyr1446=)
c.1774T=
n.7058T=
c.7042T= (p.Tyr2348=)
c.6964T= (p.Tyr2322=)
c.4348T= (p.Tyr1450=)
c.6949T= (p.Tyr2317=)
c.163T= (p.Tyr55=)
n.7061T=
5g.90692699A=CA1562859288ADGRV1c.7046A= (p.Tyr2349=)
c.265+16490A= (n.265+16490A=)
n.2505A=
c.853A=
n.190A=
c.4337A= (p.Tyr1446=)
c.1775A=
n.7059A=
c.7043A= (p.Tyr2348=)
c.6965A= (p.Tyr2322=)
c.4349A= (p.Tyr1450=)
c.6950A= (p.Tyr2317=)
c.164A= (p.Tyr55=)
n.7062A=
5g.90692699A>CCA360371372ADGRV1c.7046A>C (p.Tyr2349Ser)
c.265+16490A>C (n.265+16490A>C)
n.2505A>C
c.853A>C
n.190A>C
c.4337A>C (p.Tyr1446Ser)
c.1775A>C
n.7059A>C
c.7043A>C (p.Tyr2348Ser)
c.6965A>C (p.Tyr2322Ser)
c.4349A>C (p.Tyr1450Ser)
c.6950A>C (p.Tyr2317Ser)
c.164A>C (p.Tyr55Ser)
n.7062A>C
5g.90692699A>GCA3339956ADGRV1c.7046A>G (p.Tyr2349Cys)
c.265+16490A>G (n.265+16490A>G)
n.2505A>G
c.853A>G
n.190A>G
c.4337A>G (p.Tyr1446Cys)
c.1775A>G
n.7059A>G
c.7043A>G (p.Tyr2348Cys)
c.6965A>G (p.Tyr2322Cys)
c.4349A>G (p.Tyr1450Cys)
c.6950A>G (p.Tyr2317Cys)
c.164A>G (p.Tyr55Cys)
n.7062A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692699A>TCA360371374ADGRV1c.7046A>T (p.Tyr2349Phe)
c.265+16490A>T (n.265+16490A>T)
n.2505A>T
c.853A>T
n.190A>T
c.4337A>T (p.Tyr1446Phe)
c.1775A>T
n.7059A>T
c.7043A>T (p.Tyr2348Phe)
c.6965A>T (p.Tyr2322Phe)
c.4349A>T (p.Tyr1450Phe)
c.6950A>T (p.Tyr2317Phe)
c.164A>T (p.Tyr55Phe)
n.7062A>T
 dbSNP gnomAD v2 gnomAD v4
5g.90692700T>ACA360371379ADGRV1c.7047T>A (p.Tyr2349Ter)
c.265+16491T>A (n.265+16491T>A)
n.2506T>A
c.854T>A
n.191T>A
c.4338T>A (p.Tyr1446Ter)
c.1776T>A
n.7060T>A
c.7044T>A (p.Tyr2348Ter)
c.6966T>A (p.Tyr2322Ter)
c.4350T>A (p.Tyr1450Ter)
c.6951T>A (p.Tyr2317Ter)
c.165T>A (p.Tyr55Ter)
n.7063T>A
5g.90692700T>CCA122797188ADGRV1c.7047T>C (p.Tyr2349=)
c.265+16491T>C (n.265+16491T>C)
n.2506T>C
c.854T>C
n.191T>C
c.4338T>C (p.Tyr1446=)
c.1776T>C
n.7060T>C
c.7044T>C (p.Tyr2348=)
c.6966T>C (p.Tyr2322=)
c.4350T>C (p.Tyr1450=)
c.6951T>C (p.Tyr2317=)
c.165T>C (p.Tyr55=)
n.7063T>C
 ClinVar dbSNP
5g.90692700T>GCA360371383ADGRV1c.7047T>G (p.Tyr2349Ter)
c.265+16491T>G (n.265+16491T>G)
n.2506T>G
c.854T>G
n.191T>G
c.4338T>G (p.Tyr1446Ter)
c.1776T>G
n.7060T>G
c.7044T>G (p.Tyr2348Ter)
c.6966T>G (p.Tyr2322Ter)
c.4350T>G (p.Tyr1450Ter)
c.6951T>G (p.Tyr2317Ter)
c.165T>G (p.Tyr55Ter)
n.7063T>G
5g.90692700T=CA1562859289ADGRV1c.7047T= (p.Tyr2349=)
c.265+16491T= (n.265+16491T=)
n.2506T=
c.854T=
n.191T=
c.4338T= (p.Tyr1446=)
c.1776T=
n.7060T=
c.7044T= (p.Tyr2348=)
c.6966T= (p.Tyr2322=)
c.4350T= (p.Tyr1450=)
c.6951T= (p.Tyr2317=)
c.165T= (p.Tyr55=)
n.7063T=
5g.90692701G>ACA360371389ADGRV1c.7048G>A (p.Gly2350Ser)
c.265+16492G>A (n.265+16492G>A)
n.2507G>A
c.855G>A
n.192G>A
c.4339G>A (p.Gly1447Ser)
c.1777G>A
n.7061G>A
c.7045G>A (p.Gly2349Ser)
c.6967G>A (p.Gly2323Ser)
c.4351G>A (p.Gly1451Ser)
c.6952G>A (p.Gly2318Ser)
c.166G>A (p.Gly56Ser)
n.7064G>A
5g.90692701G>CCA360371392ADGRV1c.7048G>C (p.Gly2350Arg)
c.265+16492G>C (n.265+16492G>C)
n.2507G>C
c.855G>C
n.192G>C
c.4339G>C (p.Gly1447Arg)
c.1777G>C
n.7061G>C
c.7045G>C (p.Gly2349Arg)
c.6967G>C (p.Gly2323Arg)
c.4351G>C (p.Gly1451Arg)
c.6952G>C (p.Gly2318Arg)
c.166G>C (p.Gly56Arg)
n.7064G>C
5g.90692701G=CA1562859290ADGRV1c.7048G= (p.Gly2350=)
c.265+16492G= (n.265+16492G=)
n.2507G=
c.855G=
n.192G=
c.4339G= (p.Gly1447=)
c.1777G=
n.7061G=
c.7045G= (p.Gly2349=)
c.6967G= (p.Gly2323=)
c.4351G= (p.Gly1451=)
c.6952G= (p.Gly2318=)
c.166G= (p.Gly56=)
n.7064G=
5g.90692701G>TCA360371399ADGRV1c.7048G>T (p.Gly2350Cys)
c.265+16492G>T (n.265+16492G>T)
n.2507G>T
c.855G>T
n.192G>T
c.4339G>T (p.Gly1447Cys)
c.1777G>T
n.7061G>T
c.7045G>T (p.Gly2349Cys)
c.6967G>T (p.Gly2323Cys)
c.4351G>T (p.Gly1451Cys)
c.6952G>T (p.Gly2318Cys)
c.166G>T (p.Gly56Cys)
n.7064G>T
 dbSNP gnomAD v4
5g.90692702G>ACA360371409ADGRV1c.7049G>A (p.Gly2350Asp)
c.265+16493G>A (n.265+16493G>A)
n.2508G>A
c.856G>A
n.193G>A
c.4340G>A (p.Gly1447Asp)
c.1778G>A
n.7062G>A
c.7046G>A (p.Gly2349Asp)
c.6968G>A (p.Gly2323Asp)
c.4352G>A (p.Gly1451Asp)
c.6953G>A (p.Gly2318Asp)
c.167G>A (p.Gly56Asp)
n.7065G>A
 ClinVar
5g.90692702G>CCA360371413ADGRV1c.7049G>C (p.Gly2350Ala)
c.265+16493G>C (n.265+16493G>C)
n.2508G>C
c.856G>C
n.193G>C
c.4340G>C (p.Gly1447Ala)
c.1778G>C
n.7062G>C
c.7046G>C (p.Gly2349Ala)
c.6968G>C (p.Gly2323Ala)
c.4352G>C (p.Gly1451Ala)
c.6953G>C (p.Gly2318Ala)
c.167G>C (p.Gly56Ala)
n.7065G>C
5g.90692702G=CA1562859291ADGRV1c.7049G= (p.Gly2350=)
c.265+16493G= (n.265+16493G=)
n.2508G=
c.856G=
n.193G=
c.4340G= (p.Gly1447=)
c.1778G=
n.7062G=
c.7046G= (p.Gly2349=)
c.6968G= (p.Gly2323=)
c.4352G= (p.Gly1451=)
c.6953G= (p.Gly2318=)
c.167G= (p.Gly56=)
n.7065G=
5g.90692702G>TCA360371421ADGRV1c.7049G>T (p.Gly2350Val)
c.265+16493G>T (n.265+16493G>T)
n.2508G>T
c.856G>T
n.193G>T
c.4340G>T (p.Gly1447Val)
c.1778G>T
n.7062G>T
c.7046G>T (p.Gly2349Val)
c.6968G>T (p.Gly2323Val)
c.4352G>T (p.Gly1451Val)
c.6953G>T (p.Gly2318Val)
c.167G>T (p.Gly56Val)
n.7065G>T
 dbSNP gnomAD v2
5g.90692703T>ACA445404519ADGRV1c.7050T>A (p.Gly2350=)
c.265+16494T>A (n.265+16494T>A)
n.2509T>A
c.857T>A
n.194T>A
c.4341T>A (p.Gly1447=)
c.1779T>A
n.7063T>A
c.7047T>A (p.Gly2349=)
c.6969T>A (p.Gly2323=)
c.4353T>A (p.Gly1451=)
c.6954T>A (p.Gly2318=)
c.168T>A (p.Gly56=)
n.7066T>A
5g.90692703T>CCA445404521ADGRV1c.7050T>C (p.Gly2350=)
c.265+16494T>C (n.265+16494T>C)
n.2509T>C
c.857T>C
n.194T>C
c.4341T>C (p.Gly1447=)
c.1779T>C
n.7063T>C
c.7047T>C (p.Gly2349=)
c.6969T>C (p.Gly2323=)
c.4353T>C (p.Gly1451=)
c.6954T>C (p.Gly2318=)
c.168T>C (p.Gly56=)
n.7066T>C
5g.90692703T>GCA445404520ADGRV1c.7050T>G (p.Gly2350=)
c.265+16494T>G (n.265+16494T>G)
n.2509T>G
c.857T>G
n.194T>G
c.4341T>G (p.Gly1447=)
c.1779T>G
n.7063T>G
c.7047T>G (p.Gly2349=)
c.6969T>G (p.Gly2323=)
c.4353T>G (p.Gly1451=)
c.6954T>G (p.Gly2318=)
c.168T>G (p.Gly56=)
n.7066T>G
5g.90692704A=CA1562859292ADGRV1c.7051A= (p.Thr2351=)
c.265+16495A= (n.265+16495A=)
n.2510A=
c.858A=
n.195A=
c.4342A= (p.Thr1448=)
c.1780A=
n.7064A=
c.7048A= (p.Thr2350=)
c.6970A= (p.Thr2324=)
c.4354A= (p.Thr1452=)
c.6955A= (p.Thr2319=)
c.169A= (p.Thr57=)
n.7067A=
5g.90692704A>CCA360371424ADGRV1c.7051A>C (p.Thr2351Pro)
c.265+16495A>C (n.265+16495A>C)
n.2510A>C
c.858A>C
n.195A>C
c.4342A>C (p.Thr1448Pro)
c.1780A>C
n.7064A>C
c.7048A>C (p.Thr2350Pro)
c.6970A>C (p.Thr2324Pro)
c.4354A>C (p.Thr1452Pro)
c.6955A>C (p.Thr2319Pro)
c.169A>C (p.Thr57Pro)
n.7067A>C
 gnomAD v4
5g.90692704A>GCA360371426ADGRV1c.7051A>G (p.Thr2351Ala)
c.265+16495A>G (n.265+16495A>G)
n.2510A>G
c.858A>G
n.195A>G
c.4342A>G (p.Thr1448Ala)
c.1780A>G
n.7064A>G
c.7048A>G (p.Thr2350Ala)
c.6970A>G (p.Thr2324Ala)
c.4354A>G (p.Thr1452Ala)
c.6955A>G (p.Thr2319Ala)
c.169A>G (p.Thr57Ala)
n.7067A>G
5g.90692704A>TCA3339957ADGRV1c.7051A>T (p.Thr2351Ser)
c.265+16495A>T (n.265+16495A>T)
n.2510A>T
c.858A>T
n.195A>T
c.4342A>T (p.Thr1448Ser)
c.1780A>T
n.7064A>T
c.7048A>T (p.Thr2350Ser)
c.6970A>T (p.Thr2324Ser)
c.4354A>T (p.Thr1452Ser)
c.6955A>T (p.Thr2319Ser)
c.169A>T (p.Thr57Ser)
n.7067A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692705C>ACA360371440ADGRV1c.7052C>A (p.Thr2351Lys)
c.265+16496C>A (n.265+16496C>A)
n.2511C>A
c.859C>A
n.196C>A
c.4343C>A (p.Thr1448Lys)
c.1781C>A
n.7065C>A
c.7049C>A (p.Thr2350Lys)
c.6971C>A (p.Thr2324Lys)
c.4355C>A (p.Thr1452Lys)
c.6956C>A (p.Thr2319Lys)
c.170C>A (p.Thr57Lys)
n.7068C>A
5g.90692705C=CA1562859293ADGRV1c.7052C= (p.Thr2351=)
c.265+16496C= (n.265+16496C=)
n.2511C=
c.859C=
n.196C=
c.4343C= (p.Thr1448=)
c.1781C=
n.7065C=
c.7049C= (p.Thr2350=)
c.6971C= (p.Thr2324=)
c.4355C= (p.Thr1452=)
c.6956C= (p.Thr2319=)
c.170C= (p.Thr57=)
n.7068C=
5g.90692705C>GCA360371452ADGRV1c.7052C>G (p.Thr2351Arg)
c.265+16496C>G (n.265+16496C>G)
n.2511C>G
c.859C>G
n.196C>G
c.4343C>G (p.Thr1448Arg)
c.1781C>G
n.7065C>G
c.7049C>G (p.Thr2350Arg)
c.6971C>G (p.Thr2324Arg)
c.4355C>G (p.Thr1452Arg)
c.6956C>G (p.Thr2319Arg)
c.170C>G (p.Thr57Arg)
n.7068C>G
5g.90692705C>TCA360371443ADGRV1c.7052C>T (p.Thr2351Ile)
c.265+16496C>T (n.265+16496C>T)
n.2511C>T
c.859C>T
n.196C>T
c.4343C>T (p.Thr1448Ile)
c.1781C>T
n.7065C>T
c.7049C>T (p.Thr2350Ile)
c.6971C>T (p.Thr2324Ile)
c.4355C>T (p.Thr1452Ile)
c.6956C>T (p.Thr2319Ile)
c.170C>T (p.Thr57Ile)
n.7068C>T
 dbSNP
5g.90692706A=CA1562859294ADGRV1c.7053A= (p.Thr2351=)
c.265+16497A= (n.265+16497A=)
n.2512A=
c.860A=
n.197A=
c.4344A= (p.Thr1448=)
c.1782A=
n.7066A=
c.7050A= (p.Thr2350=)
c.6972A= (p.Thr2324=)
c.4356A= (p.Thr1452=)
c.6957A= (p.Thr2319=)
c.171A= (p.Thr57=)
n.7069A=
5g.90692706A>CCA445404522ADGRV1c.7053A>C (p.Thr2351=)
c.265+16497A>C (n.265+16497A>C)
n.2512A>C
c.860A>C
n.197A>C
c.4344A>C (p.Thr1448=)
c.1782A>C
n.7066A>C
c.7050A>C (p.Thr2350=)
c.6972A>C (p.Thr2324=)
c.4356A>C (p.Thr1452=)
c.6957A>C (p.Thr2319=)
c.171A>C (p.Thr57=)
n.7069A>C
5g.90692706A>GCA445404523ADGRV1c.7053A>G (p.Thr2351=)
c.265+16497A>G (n.265+16497A>G)
n.2512A>G
c.860A>G
n.197A>G
c.4344A>G (p.Thr1448=)
c.1782A>G
n.7066A>G
c.7050A>G (p.Thr2350=)
c.6972A>G (p.Thr2324=)
c.4356A>G (p.Thr1452=)
c.6957A>G (p.Thr2319=)
c.171A>G (p.Thr57=)
n.7069A>G
 gnomAD v4
5g.90692706A>TCA3339958ADGRV1c.7053A>T (p.Thr2351=)
c.265+16497A>T (n.265+16497A>T)
n.2512A>T
c.860A>T
n.197A>T
c.4344A>T (p.Thr1448=)
c.1782A>T
n.7066A>T
c.7050A>T (p.Thr2350=)
c.6972A>T (p.Thr2324=)
c.4356A>T (p.Thr1452=)
c.6957A>T (p.Thr2319=)
c.171A>T (p.Thr57=)
n.7069A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692707G>ACA3339959ADGRV1c.7054G>A (p.Val2352Ile)
c.265+16498G>A (n.265+16498G>A)
n.2513G>A
c.861G>A
n.198G>A
c.4345G>A (p.Val1449Ile)
c.1783G>A
n.7067G>A
c.7051G>A (p.Val2351Ile)
c.6973G>A (p.Val2325Ile)
c.4357G>A (p.Val1453Ile)
c.6958G>A (p.Val2320Ile)
c.172G>A (p.Val58Ile)
n.7070G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692707G>CCA360371458ADGRV1c.7054G>C (p.Val2352Leu)
c.265+16498G>C (n.265+16498G>C)
n.2513G>C
c.861G>C
n.198G>C
c.4345G>C (p.Val1449Leu)
c.1783G>C
n.7067G>C
c.7051G>C (p.Val2351Leu)
c.6973G>C (p.Val2325Leu)
c.4357G>C (p.Val1453Leu)
c.6958G>C (p.Val2320Leu)
c.172G>C (p.Val58Leu)
n.7070G>C
5g.90692707G=CA1562859295ADGRV1c.7054G= (p.Val2352=)
c.265+16498G= (n.265+16498G=)
n.2513G=
c.861G=
n.198G=
c.4345G= (p.Val1449=)
c.1783G=
n.7067G=
c.7051G= (p.Val2351=)
c.6973G= (p.Val2325=)
c.4357G= (p.Val1453=)
c.6958G= (p.Val2320=)
c.172G= (p.Val58=)
n.7070G=
5g.90692707G>TCA360371460ADGRV1c.7054G>T (p.Val2352Leu)
c.265+16498G>T (n.265+16498G>T)
n.2513G>T
c.861G>T
n.198G>T
c.4345G>T (p.Val1449Leu)
c.1783G>T
n.7067G>T
c.7051G>T (p.Val2351Leu)
c.6973G>T (p.Val2325Leu)
c.4357G>T (p.Val1453Leu)
c.6958G>T (p.Val2320Leu)
c.172G>T (p.Val58Leu)
n.7070G>T
5g.90692708T>ACA360371465ADGRV1c.7055T>A (p.Val2352Glu)
c.265+16499T>A (n.265+16499T>A)
n.2514T>A
c.862T>A
n.199T>A
c.4346T>A (p.Val1449Glu)
c.1784T>A
n.7068T>A
c.7052T>A (p.Val2351Glu)
c.6974T>A (p.Val2325Glu)
c.4358T>A (p.Val1453Glu)
c.6959T>A (p.Val2320Glu)
c.173T>A (p.Val58Glu)
n.7071T>A
5g.90692708T>CCA360371467ADGRV1c.7055T>C (p.Val2352Ala)
c.265+16499T>C (n.265+16499T>C)
n.2514T>C
c.862T>C
n.199T>C
c.4346T>C (p.Val1449Ala)
c.1784T>C
n.7068T>C
c.7052T>C (p.Val2351Ala)
c.6974T>C (p.Val2325Ala)
c.4358T>C (p.Val1453Ala)
c.6959T>C (p.Val2320Ala)
c.173T>C (p.Val58Ala)
n.7071T>C
 dbSNP gnomAD v2 gnomAD v4
5g.90692708T>GCA360371470ADGRV1c.7055T>G (p.Val2352Gly)
c.265+16499T>G (n.265+16499T>G)
n.2514T>G
c.862T>G
n.199T>G
c.4346T>G (p.Val1449Gly)
c.1784T>G
n.7068T>G
c.7052T>G (p.Val2351Gly)
c.6974T>G (p.Val2325Gly)
c.4358T>G (p.Val1453Gly)
c.6959T>G (p.Val2320Gly)
c.173T>G (p.Val58Gly)
n.7071T>G
5g.90692708T=CA1562859296ADGRV1c.7055T= (p.Val2352=)
c.265+16499T= (n.265+16499T=)
n.2514T=
c.862T=
n.199T=
c.4346T= (p.Val1449=)
c.1784T=
n.7068T=
c.7052T= (p.Val2351=)
c.6974T= (p.Val2325=)
c.4358T= (p.Val1453=)
c.6959T= (p.Val2320=)
c.173T= (p.Val58=)
n.7071T=
5g.90692709A>CCA445404524ADGRV1c.7056A>C (p.Val2352=)
c.265+16500A>C (n.265+16500A>C)
n.2515A>C
c.863A>C
n.200A>C
c.4347A>C (p.Val1449=)
c.1785A>C
n.7069A>C
c.7053A>C (p.Val2351=)
c.6975A>C (p.Val2325=)
c.4359A>C (p.Val1453=)
c.6960A>C (p.Val2320=)
c.174A>C (p.Val58=)
n.7072A>C
5g.90692709A>GCA445404525ADGRV1c.7056A>G (p.Val2352=)
c.265+16500A>G (n.265+16500A>G)
n.2515A>G
c.863A>G
n.200A>G
c.4347A>G (p.Val1449=)
c.1785A>G
n.7069A>G
c.7053A>G (p.Val2351=)
c.6975A>G (p.Val2325=)
c.4359A>G (p.Val1453=)
c.6960A>G (p.Val2320=)
c.174A>G (p.Val58=)
n.7072A>G
5g.90692709A>TCA445404526ADGRV1c.7056A>T (p.Val2352=)
c.265+16500A>T (n.265+16500A>T)
n.2515A>T
c.863A>T
n.200A>T
c.4347A>T (p.Val1449=)
c.1785A>T
n.7069A>T
c.7053A>T (p.Val2351=)
c.6975A>T (p.Val2325=)
c.4359A>T (p.Val1453=)
c.6960A>T (p.Val2320=)
c.174A>T (p.Val58=)
n.7072A>T
5g.90692710G>ACA360371476ADGRV1c.7057G>A (p.Ala2353Thr)
c.265+16501G>A (n.265+16501G>A)
n.2516G>A
c.864G>A
n.201G>A
c.4348G>A (p.Ala1450Thr)
c.1786G>A
n.7070G>A
c.7054G>A (p.Ala2352Thr)
c.6976G>A (p.Ala2326Thr)
c.4360G>A (p.Ala1454Thr)
c.6961G>A (p.Ala2321Thr)
c.175G>A (p.Ala59Thr)
n.7073G>A
5g.90692710G>CCA360371478ADGRV1c.7057G>C (p.Ala2353Pro)
c.265+16501G>C (n.265+16501G>C)
n.2516G>C
c.864G>C
n.201G>C
c.4348G>C (p.Ala1450Pro)
c.1786G>C
n.7070G>C
c.7054G>C (p.Ala2352Pro)
c.6976G>C (p.Ala2326Pro)
c.4360G>C (p.Ala1454Pro)
c.6961G>C (p.Ala2321Pro)
c.175G>C (p.Ala59Pro)
n.7073G>C
5g.90692710G>TCA360371479ADGRV1c.7057G>T (p.Ala2353Ser)
c.265+16501G>T (n.265+16501G>T)
n.2516G>T
c.864G>T
n.201G>T
c.4348G>T (p.Ala1450Ser)
c.1786G>T
n.7070G>T
c.7054G>T (p.Ala2352Ser)
c.6976G>T (p.Ala2326Ser)
c.4360G>T (p.Ala1454Ser)
c.6961G>T (p.Ala2321Ser)
c.175G>T (p.Ala59Ser)
n.7073G>T
5g.90692711C>ACA360371481ADGRV1c.7058C>A (p.Ala2353Asp)
c.265+16502C>A (n.265+16502C>A)
n.2517C>A
c.865C>A
n.202C>A
c.4349C>A (p.Ala1450Asp)
c.1787C>A
n.7071C>A
c.7055C>A (p.Ala2352Asp)
c.6977C>A (p.Ala2326Asp)
c.4361C>A (p.Ala1454Asp)
c.6962C>A (p.Ala2321Asp)
c.176C>A (p.Ala59Asp)
n.7074C>A
5g.90692711C>GCA360371483ADGRV1c.7058C>G (p.Ala2353Gly)
c.265+16502C>G (n.265+16502C>G)
n.2517C>G
c.865C>G
n.202C>G
c.4349C>G (p.Ala1450Gly)
c.1787C>G
n.7071C>G
c.7055C>G (p.Ala2352Gly)
c.6977C>G (p.Ala2326Gly)
c.4361C>G (p.Ala1454Gly)
c.6962C>G (p.Ala2321Gly)
c.176C>G (p.Ala59Gly)
n.7074C>G
5g.90692711C>TCA360371489ADGRV1c.7058C>T (p.Ala2353Val)
c.265+16502C>T (n.265+16502C>T)
n.2517C>T
c.865C>T
n.202C>T
c.4349C>T (p.Ala1450Val)
c.1787C>T
n.7071C>T
c.7055C>T (p.Ala2352Val)
c.6977C>T (p.Ala2326Val)
c.4361C>T (p.Ala1454Val)
c.6962C>T (p.Ala2321Val)
c.176C>T (p.Ala59Val)
n.7074C>T
5g.90692712C>ACA445404529ADGRV1c.7059C>A (p.Ala2353=)
c.265+16503C>A (n.265+16503C>A)
n.2518C>A
c.866C>A
n.203C>A
c.4350C>A (p.Ala1450=)
c.1788C>A
n.7072C>A
c.7056C>A (p.Ala2352=)
c.6978C>A (p.Ala2326=)
c.4362C>A (p.Ala1454=)
c.6963C>A (p.Ala2321=)
c.177C>A (p.Ala59=)
n.7075C>A
 gnomAD v4
5g.90692712C>GCA445404527ADGRV1c.7059C>G (p.Ala2353=)
c.265+16503C>G (n.265+16503C>G)
n.2518C>G
c.866C>G
n.203C>G
c.4350C>G (p.Ala1450=)
c.1788C>G
n.7072C>G
c.7056C>G (p.Ala2352=)
c.6978C>G (p.Ala2326=)
c.4362C>G (p.Ala1454=)
c.6963C>G (p.Ala2321=)
c.177C>G (p.Ala59=)
n.7075C>G
5g.90692712C>TCA445404528ADGRV1c.7059C>T (p.Ala2353=)
c.265+16503C>T (n.265+16503C>T)
n.2518C>T
c.866C>T
n.203C>T
c.4350C>T (p.Ala1450=)
c.1788C>T
n.7072C>T
c.7056C>T (p.Ala2352=)
c.6978C>T (p.Ala2326=)
c.4362C>T (p.Ala1454=)
c.6963C>T (p.Ala2321=)
c.177C>T (p.Ala59=)
n.7075C>T
5g.90692713T>ACA360371497ADGRV1c.7060T>A (p.Phe2354Ile)
c.265+16504T>A (n.265+16504T>A)
n.2519T>A
c.867T>A
n.204T>A
c.4351T>A (p.Phe1451Ile)
c.1789T>A
n.7073T>A
c.7057T>A (p.Phe2353Ile)
c.6979T>A (p.Phe2327Ile)
c.4363T>A (p.Phe1455Ile)
c.6964T>A (p.Phe2322Ile)
c.178T>A (p.Phe60Ile)
n.7076T>A
5g.90692713T>CCA360371496ADGRV1c.7060T>C (p.Phe2354Leu)
c.265+16504T>C (n.265+16504T>C)
n.2519T>C
c.867T>C
n.204T>C
c.4351T>C (p.Phe1451Leu)
c.1789T>C
n.7073T>C
c.7057T>C (p.Phe2353Leu)
c.6979T>C (p.Phe2327Leu)
c.4363T>C (p.Phe1455Leu)
c.6964T>C (p.Phe2322Leu)
c.178T>C (p.Phe60Leu)
n.7076T>C
5g.90692713T>GCA360371495ADGRV1c.7060T>G (p.Phe2354Val)
c.265+16504T>G (n.265+16504T>G)
n.2519T>G
c.867T>G
n.204T>G
c.4351T>G (p.Phe1451Val)
c.1789T>G
n.7073T>G
c.7057T>G (p.Phe2353Val)
c.6979T>G (p.Phe2327Val)
c.4363T>G (p.Phe1455Val)
c.6964T>G (p.Phe2322Val)
c.178T>G (p.Phe60Val)
n.7076T>G
5g.90692714T>ACA360371500ADGRV1c.7061T>A (p.Phe2354Tyr)
c.265+16505T>A (n.265+16505T>A)
n.2520T>A
c.868T>A
n.205T>A
c.4352T>A (p.Phe1451Tyr)
c.1790T>A
n.7074T>A
c.7058T>A (p.Phe2353Tyr)
c.6980T>A (p.Phe2327Tyr)
c.4364T>A (p.Phe1455Tyr)
c.6965T>A (p.Phe2322Tyr)
c.179T>A (p.Phe60Tyr)
n.7077T>A
5g.90692714T>CCA360371501ADGRV1c.7061T>C (p.Phe2354Ser)
c.265+16505T>C (n.265+16505T>C)
n.2520T>C
c.868T>C
n.205T>C
c.4352T>C (p.Phe1451Ser)
c.1790T>C
n.7074T>C
c.7058T>C (p.Phe2353Ser)
c.6980T>C (p.Phe2327Ser)
c.4364T>C (p.Phe1455Ser)
c.6965T>C (p.Phe2322Ser)
c.179T>C (p.Phe60Ser)
n.7077T>C
5g.90692714T>GCA360371502ADGRV1c.7061T>G (p.Phe2354Cys)
c.265+16505T>G (n.265+16505T>G)
n.2520T>G
c.868T>G
n.205T>G
c.4352T>G (p.Phe1451Cys)
c.1790T>G
n.7074T>G
c.7058T>G (p.Phe2353Cys)
c.6980T>G (p.Phe2327Cys)
c.4364T>G (p.Phe1455Cys)
c.6965T>G (p.Phe2322Cys)
c.179T>G (p.Phe60Cys)
n.7077T>G
5g.90692715T>ACA360371503ADGRV1c.7062T>A (p.Phe2354Leu)
c.265+16506T>A (n.265+16506T>A)
n.2521T>A
c.869T>A
n.206T>A
c.4353T>A (p.Phe1451Leu)
c.1791T>A
n.7075T>A
c.7059T>A (p.Phe2353Leu)
c.6981T>A (p.Phe2327Leu)
c.4365T>A (p.Phe1455Leu)
c.6966T>A (p.Phe2322Leu)
c.180T>A (p.Phe60Leu)
n.7078T>A
5g.90692715T>CCA445404533ADGRV1c.7062T>C (p.Phe2354=)
c.265+16506T>C (n.265+16506T>C)
n.2521T>C
c.869T>C
n.206T>C
c.4353T>C (p.Phe1451=)
c.1791T>C
n.7075T>C
c.7059T>C (p.Phe2353=)
c.6981T>C (p.Phe2327=)
c.4365T>C (p.Phe1455=)
c.6966T>C (p.Phe2322=)
c.180T>C (p.Phe60=)
n.7078T>C
5g.90692715T>GCA360371511ADGRV1c.7062T>G (p.Phe2354Leu)
c.265+16506T>G (n.265+16506T>G)
n.2521T>G
c.869T>G
n.206T>G
c.4353T>G (p.Phe1451Leu)
c.1791T>G
n.7075T>G
c.7059T>G (p.Phe2353Leu)
c.6981T>G (p.Phe2327Leu)
c.4365T>G (p.Phe1455Leu)
c.6966T>G (p.Phe2322Leu)
c.180T>G (p.Phe60Leu)
n.7078T>G
5g.90692716G>ACA360371519ADGRV1c.7063G>A (p.Ala2355Thr)
c.265+16507G>A (n.265+16507G>A)
n.2522G>A
c.870G>A
n.207G>A
c.4354G>A (p.Ala1452Thr)
c.1792G>A
n.7076G>A
c.7060G>A (p.Ala2354Thr)
c.6982G>A (p.Ala2328Thr)
c.4366G>A (p.Ala1456Thr)
c.6967G>A (p.Ala2323Thr)
c.181G>A (p.Ala61Thr)
n.7079G>A
5g.90692716G>CCA360371522ADGRV1c.7063G>C (p.Ala2355Pro)
c.265+16507G>C (n.265+16507G>C)
n.2522G>C
c.870G>C
n.207G>C
c.4354G>C (p.Ala1452Pro)
c.1792G>C
n.7076G>C
c.7060G>C (p.Ala2354Pro)
c.6982G>C (p.Ala2328Pro)
c.4366G>C (p.Ala1456Pro)
c.6967G>C (p.Ala2323Pro)
c.181G>C (p.Ala61Pro)
n.7079G>C
5g.90692716G>TCA360371525ADGRV1c.7063G>T (p.Ala2355Ser)
c.265+16507G>T (n.265+16507G>T)
n.2522G>T
c.870G>T
n.207G>T
c.4354G>T (p.Ala1452Ser)
c.1792G>T
n.7076G>T
c.7060G>T (p.Ala2354Ser)
c.6982G>T (p.Ala2328Ser)
c.4366G>T (p.Ala1456Ser)
c.6967G>T (p.Ala2323Ser)
c.181G>T (p.Ala61Ser)
n.7079G>T
5g.90692717C>ACA360371531ADGRV1c.7064C>A (p.Ala2355Asp)
c.265+16508C>A (n.265+16508C>A)
n.2523C>A
c.871C>A
n.208C>A
c.4355C>A (p.Ala1452Asp)
c.1793C>A
n.7077C>A
c.7061C>A (p.Ala2354Asp)
c.6983C>A (p.Ala2328Asp)
c.4367C>A (p.Ala1456Asp)
c.6968C>A (p.Ala2323Asp)
c.182C>A (p.Ala61Asp)
n.7080C>A
 dbSNP gnomAD v4
5g.90692717C=CA1562859297ADGRV1c.7064C= (p.Ala2355=)
c.265+16508C= (n.265+16508C=)
n.2523C=
c.871C=
n.208C=
c.4355C= (p.Ala1452=)
c.1793C=
n.7077C=
c.7061C= (p.Ala2354=)
c.6983C= (p.Ala2328=)
c.4367C= (p.Ala1456=)
c.6968C= (p.Ala2323=)
c.182C= (p.Ala61=)
n.7080C=
5g.90692717C>GCA360371534ADGRV1c.7064C>G (p.Ala2355Gly)
c.265+16508C>G (n.265+16508C>G)
n.2523C>G
c.871C>G
n.208C>G
c.4355C>G (p.Ala1452Gly)
c.1793C>G
n.7077C>G
c.7061C>G (p.Ala2354Gly)
c.6983C>G (p.Ala2328Gly)
c.4367C>G (p.Ala1456Gly)
c.6968C>G (p.Ala2323Gly)
c.182C>G (p.Ala61Gly)
n.7080C>G
5g.90692717C>TCA122797189ADGRV1c.7064C>T (p.Ala2355Val)
c.265+16508C>T (n.265+16508C>T)
n.2523C>T
c.871C>T
n.208C>T
c.4355C>T (p.Ala1452Val)
c.1793C>T
n.7077C>T
c.7061C>T (p.Ala2354Val)
c.6983C>T (p.Ala2328Val)
c.4367C>T (p.Ala1456Val)
c.6968C>T (p.Ala2323Val)
c.182C>T (p.Ala61Val)
n.7080C>T
 dbSNP
5g.90692718T>ACA445404534ADGRV1c.7065T>A (p.Ala2355=)
c.265+16509T>A (n.265+16509T>A)
n.2524T>A
c.872T>A
n.209T>A
c.4356T>A (p.Ala1452=)
c.1794T>A
n.7078T>A
c.7062T>A (p.Ala2354=)
c.6984T>A (p.Ala2328=)
c.4368T>A (p.Ala1456=)
c.6969T>A (p.Ala2323=)
c.183T>A (p.Ala61=)
n.7081T>A
5g.90692718T>CCA3339960ADGRV1c.7065T>C (p.Ala2355=)
c.265+16509T>C (n.265+16509T>C)
n.2524T>C
c.872T>C
n.209T>C
c.4356T>C (p.Ala1452=)
c.1794T>C
n.7078T>C
c.7062T>C (p.Ala2354=)
c.6984T>C (p.Ala2328=)
c.4368T>C (p.Ala1456=)
c.6969T>C (p.Ala2323=)
c.183T>C (p.Ala61=)
n.7081T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692718T>GCA445404535ADGRV1c.7065T>G (p.Ala2355=)
c.265+16509T>G (n.265+16509T>G)
n.2524T>G
c.872T>G
n.209T>G
c.4356T>G (p.Ala1452=)
c.1794T>G
n.7078T>G
c.7062T>G (p.Ala2354=)
c.6984T>G (p.Ala2328=)
c.4368T>G (p.Ala1456=)
c.6969T>G (p.Ala2323=)
c.183T>G (p.Ala61=)
n.7081T>G
5g.90692718T=CA1562859298ADGRV1c.7065T= (p.Ala2355=)
c.265+16509T= (n.265+16509T=)
n.2524T=
c.872T=
n.209T=
c.4356T= (p.Ala1452=)
c.1794T=
n.7078T=
c.7062T= (p.Ala2354=)
c.6984T= (p.Ala2328=)
c.4368T= (p.Ala1456=)
c.6969T= (p.Ala2323=)
c.183T= (p.Ala61=)
n.7081T=
5g.90692719delCA2697546299ADGRV1c.7066del (p.Gln2356ArgfsTer18)
c.265+16510del (n.265+16510del)
n.2525del
c.873del
n.210del
c.4357del (p.Gln1453ArgfsTer18)
c.1795del
n.7079del
c.7063del (p.Gln2355ArgfsTer18)
c.6985del (p.Gln2329ArgfsTer18)
c.4369del (p.Gln1457ArgfsTer18)
c.6970del (p.Gln2324ArgfsTer18)
c.184del (p.Gln62ArgfsTer18)
n.7082del
 ClinVar
5g.90692719C>ACA360371548ADGRV1c.7066C>A (p.Gln2356Lys)
c.265+16510C>A (n.265+16510C>A)
n.2525C>A
c.873C>A
n.210C>A
c.4357C>A (p.Gln1453Lys)
c.1795C>A
n.7079C>A
c.7063C>A (p.Gln2355Lys)
c.6985C>A (p.Gln2329Lys)
c.4369C>A (p.Gln1457Lys)
c.6970C>A (p.Gln2324Lys)
c.184C>A (p.Gln62Lys)
n.7082C>A
5g.90692719C=CA1562859299ADGRV1c.7066C= (p.Gln2356=)
c.265+16510C= (n.265+16510C=)
n.2525C=
c.873C=
n.210C=
c.4357C= (p.Gln1453=)
c.1795C=
n.7079C=
c.7063C= (p.Gln2355=)
c.6985C= (p.Gln2329=)
c.4369C= (p.Gln1457=)
c.6970C= (p.Gln2324=)
c.184C= (p.Gln62=)
n.7082C=
5g.90692719C>GCA360371550ADGRV1c.7066C>G (p.Gln2356Glu)
c.265+16510C>G (n.265+16510C>G)
n.2525C>G
c.873C>G
n.210C>G
c.4357C>G (p.Gln1453Glu)
c.1795C>G
n.7079C>G
c.7063C>G (p.Gln2355Glu)
c.6985C>G (p.Gln2329Glu)
c.4369C>G (p.Gln1457Glu)
c.6970C>G (p.Gln2324Glu)
c.184C>G (p.Gln62Glu)
n.7082C>G
5g.90692719C>TCA360371547ADGRV1c.7066C>T (p.Gln2356Ter)
c.265+16510C>T (n.265+16510C>T)
n.2525C>T
c.873C>T
n.210C>T
c.4357C>T (p.Gln1453Ter)
c.1795C>T
n.7079C>T
c.7063C>T (p.Gln2355Ter)
c.6985C>T (p.Gln2329Ter)
c.4369C>T (p.Gln1457Ter)
c.6970C>T (p.Gln2324Ter)
c.184C>T (p.Gln62Ter)
n.7082C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90692720A>CCA360371553ADGRV1c.7067A>C (p.Gln2356Pro)
c.265+16511A>C (n.265+16511A>C)
n.2526A>C
c.874A>C
n.211A>C
c.4358A>C (p.Gln1453Pro)
c.1796A>C
n.7080A>C
c.7064A>C (p.Gln2355Pro)
c.6986A>C (p.Gln2329Pro)
c.4370A>C (p.Gln1457Pro)
c.6971A>C (p.Gln2324Pro)
c.185A>C (p.Gln62Pro)
n.7083A>C
5g.90692720A>GCA360371561ADGRV1c.7067A>G (p.Gln2356Arg)
c.265+16511A>G (n.265+16511A>G)
n.2526A>G
c.874A>G
n.211A>G
c.4358A>G (p.Gln1453Arg)
c.1796A>G
n.7080A>G
c.7064A>G (p.Gln2355Arg)
c.6986A>G (p.Gln2329Arg)
c.4370A>G (p.Gln1457Arg)
c.6971A>G (p.Gln2324Arg)
c.185A>G (p.Gln62Arg)
n.7083A>G
5g.90692720A>TCA360371566ADGRV1c.7067A>T (p.Gln2356Leu)
c.265+16511A>T (n.265+16511A>T)
n.2526A>T
c.874A>T
n.211A>T
c.4358A>T (p.Gln1453Leu)
c.1796A>T
n.7080A>T
c.7064A>T (p.Gln2355Leu)
c.6986A>T (p.Gln2329Leu)
c.4370A>T (p.Gln1457Leu)
c.6971A>T (p.Gln2324Leu)
c.185A>T (p.Gln62Leu)
n.7083A>T
5g.90692721G>ACA445404538ADGRV1c.7068G>A (p.Gln2356=)
c.265+16512G>A (n.265+16512G>A)
n.2527G>A
c.875G>A
n.212G>A
c.4359G>A (p.Gln1453=)
c.1797G>A
n.7081G>A
c.7065G>A (p.Gln2355=)
c.6987G>A (p.Gln2329=)
c.4371G>A (p.Gln1457=)
c.6972G>A (p.Gln2324=)
c.186G>A (p.Gln62=)
n.7084G>A
 dbSNP gnomAD v4
5g.90692721G>CCA360371571ADGRV1c.7068G>C (p.Gln2356His)
c.265+16512G>C (n.265+16512G>C)
n.2527G>C
c.875G>C
n.212G>C
c.4359G>C (p.Gln1453His)
c.1797G>C
n.7081G>C
c.7065G>C (p.Gln2355His)
c.6987G>C (p.Gln2329His)
c.4371G>C (p.Gln1457His)
c.6972G>C (p.Gln2324His)
c.186G>C (p.Gln62His)
n.7084G>C
5g.90692721G=CA1562859300ADGRV1c.7068G= (p.Gln2356=)
c.265+16512G= (n.265+16512G=)
n.2527G=
c.875G=
n.212G=
c.4359G= (p.Gln1453=)
c.1797G=
n.7081G=
c.7065G= (p.Gln2355=)
c.6987G= (p.Gln2329=)
c.4371G= (p.Gln1457=)
c.6972G= (p.Gln2324=)
c.186G= (p.Gln62=)
n.7084G=
5g.90692721G>TCA360371573ADGRV1c.7068G>T (p.Gln2356His)
c.265+16512G>T (n.265+16512G>T)
n.2527G>T
c.875G>T
n.212G>T
c.4359G>T (p.Gln1453His)
c.1797G>T
n.7081G>T
c.7065G>T (p.Gln2355His)
c.6987G>T (p.Gln2329His)
c.4371G>T (p.Gln1457His)
c.6972G>T (p.Gln2324His)
c.186G>T (p.Gln62His)
n.7084G>T
5g.90692722A=CA1562859301ADGRV1c.7069A= (p.Met2357=)
c.265+16513A= (n.265+16513A=)
n.2528A=
c.876A=
n.213A=
c.4360A= (p.Met1454=)
c.1798A=
n.7082A=
c.7066A= (p.Met2356=)
c.6988A= (p.Met2330=)
c.4372A= (p.Met1458=)
c.6973A= (p.Met2325=)
c.187A= (p.Met63=)
n.7085A=
5g.90692722A>CCA360371576ADGRV1c.7069A>C (p.Met2357Leu)
c.265+16513A>C (n.265+16513A>C)
n.2528A>C
c.876A>C
n.213A>C
c.4360A>C (p.Met1454Leu)
c.1798A>C
n.7082A>C
c.7066A>C (p.Met2356Leu)
c.6988A>C (p.Met2330Leu)
c.4372A>C (p.Met1458Leu)
c.6973A>C (p.Met2325Leu)
c.187A>C (p.Met63Leu)
n.7085A>C
5g.90692722A>GCA122797190ADGRV1c.7069A>G (p.Met2357Val)
c.265+16513A>G (n.265+16513A>G)
n.2528A>G
c.876A>G
n.213A>G
c.4360A>G (p.Met1454Val)
c.1798A>G
n.7082A>G
c.7066A>G (p.Met2356Val)
c.6988A>G (p.Met2330Val)
c.4372A>G (p.Met1458Val)
c.6973A>G (p.Met2325Val)
c.187A>G (p.Met63Val)
n.7085A>G
 dbSNP
5g.90692722A>TCA3339961ADGRV1c.7069A>T (p.Met2357Leu)
c.265+16513A>T (n.265+16513A>T)
n.2528A>T
c.876A>T
n.213A>T
c.4360A>T (p.Met1454Leu)
c.1798A>T
n.7082A>T
c.7066A>T (p.Met2356Leu)
c.6988A>T (p.Met2330Leu)
c.4372A>T (p.Met1458Leu)
c.6973A>T (p.Met2325Leu)
c.187A>T (p.Met63Leu)
n.7085A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692723T>ACA360371578ADGRV1c.7070T>A (p.Met2357Lys)
c.265+16514T>A (n.265+16514T>A)
n.2529T>A
c.877T>A
n.214T>A
c.4361T>A (p.Met1454Lys)
c.1799T>A
n.7083T>A
c.7067T>A (p.Met2356Lys)
c.6989T>A (p.Met2330Lys)
c.4373T>A (p.Met1458Lys)
c.6974T>A (p.Met2325Lys)
c.188T>A (p.Met63Lys)
n.7086T>A
 gnomAD v4
5g.90692723T>CCA360371581ADGRV1c.7070T>C (p.Met2357Thr)
c.265+16514T>C (n.265+16514T>C)
n.2529T>C
c.877T>C
n.214T>C
c.4361T>C (p.Met1454Thr)
c.1799T>C
n.7083T>C
c.7067T>C (p.Met2356Thr)
c.6989T>C (p.Met2330Thr)
c.4373T>C (p.Met1458Thr)
c.6974T>C (p.Met2325Thr)
c.188T>C (p.Met63Thr)
n.7086T>C
 dbSNP
5g.90692723T>GCA360371585ADGRV1c.7070T>G (p.Met2357Arg)
c.265+16514T>G (n.265+16514T>G)
n.2529T>G
c.877T>G
n.214T>G
c.4361T>G (p.Met1454Arg)
c.1799T>G
n.7083T>G
c.7067T>G (p.Met2356Arg)
c.6989T>G (p.Met2330Arg)
c.4373T>G (p.Met1458Arg)
c.6974T>G (p.Met2325Arg)
c.188T>G (p.Met63Arg)
n.7086T>G
5g.90692724G>ACA3339962ADGRV1c.7071G>A (p.Met2357Ile)
c.265+16515G>A (n.265+16515G>A)
n.2530G>A
c.878G>A
n.215G>A
c.4362G>A (p.Met1454Ile)
c.1800G>A
n.7084G>A
c.7068G>A (p.Met2356Ile)
c.6990G>A (p.Met2330Ile)
c.4374G>A (p.Met1458Ile)
c.6975G>A (p.Met2325Ile)
c.189G>A (p.Met63Ile)
n.7087G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692724G>CCA360371592ADGRV1c.7071G>C (p.Met2357Ile)
c.265+16515G>C (n.265+16515G>C)
n.2530G>C
c.878G>C
n.215G>C
c.4362G>C (p.Met1454Ile)
c.1800G>C
n.7084G>C
c.7068G>C (p.Met2356Ile)
c.6990G>C (p.Met2330Ile)
c.4374G>C (p.Met1458Ile)
c.6975G>C (p.Met2325Ile)
c.189G>C (p.Met63Ile)
n.7087G>C
 dbSNP gnomAD v2 gnomAD v4
5g.90692724G=CA1562859303ADGRV1c.7071G= (p.Met2357=)
c.265+16515G= (n.265+16515G=)
n.2530G=
c.878G=
n.215G=
c.4362G= (p.Met1454=)
c.1800G=
n.7084G=
c.7068G= (p.Met2356=)
c.6990G= (p.Met2330=)
c.4374G= (p.Met1458=)
c.6975G= (p.Met2325=)
c.189G= (p.Met63=)
n.7087G=
5g.90692724G>TCA360371597ADGRV1c.7071G>T (p.Met2357Ile)
c.265+16515G>T (n.265+16515G>T)
n.2530G>T
c.878G>T
n.215G>T
c.4362G>T (p.Met1454Ile)
c.1800G>T
n.7084G>T
c.7068G>T (p.Met2356Ile)
c.6990G>T (p.Met2330Ile)
c.4374G>T (p.Met1458Ile)
c.6975G>T (p.Met2325Ile)
c.189G>T (p.Met63Ile)
n.7087G>T
5g.90692724_90692726delinsGGTCA1562859302ADGRV1c.7071_7073delinsGGT (p.Met2357=)
c.265+16515_265+16517delinsGGT (n.265+16515_265+16517delinsGGT)
n.2530_2532delinsGGT
c.878_880delinsGGT
n.215_217delinsGGT
c.4362_4364delinsGGT (p.Met1454=)
c.1800_1802delinsGGT
n.7084_7086delinsGGT
c.7068_7070delinsGGT (p.Met2356=)
c.6990_6992delinsGGT (p.Met2330=)
c.4374_4376delinsGGT (p.Met1458=)
c.6975_6977delinsGGT (p.Met2325=)
c.189_191delinsGGT (p.Met63=)
n.7087_7089delinsGGT
5g.90692725G>ACA360371599ADGRV1c.7072G>A (p.Val2358Ile)
c.265+16516G>A (n.265+16516G>A)
n.2531G>A
c.879G>A
n.216G>A
c.4363G>A (p.Val1455Ile)
c.1801G>A
n.7085G>A
c.7069G>A (p.Val2357Ile)
c.6991G>A (p.Val2331Ile)
c.4375G>A (p.Val1459Ile)
c.6976G>A (p.Val2326Ile)
c.190G>A (p.Val64Ile)
n.7088G>A
 dbSNP gnomAD v4
5g.90692725G>CCA360371606ADGRV1c.7072G>C (p.Val2358Leu)
c.265+16516G>C (n.265+16516G>C)
n.2531G>C
c.879G>C
n.216G>C
c.4363G>C (p.Val1455Leu)
c.1801G>C
n.7085G>C
c.7069G>C (p.Val2357Leu)
c.6991G>C (p.Val2331Leu)
c.4375G>C (p.Val1459Leu)
c.6976G>C (p.Val2326Leu)
c.190G>C (p.Val64Leu)
n.7088G>C
5g.90692725G=CA1562859305ADGRV1c.7072G= (p.Val2358=)
c.265+16516G= (n.265+16516G=)
n.2531G=
c.879G=
n.216G=
c.4363G= (p.Val1455=)
c.1801G=
n.7085G=
c.7069G= (p.Val2357=)
c.6991G= (p.Val2331=)
c.4375G= (p.Val1459=)
c.6976G= (p.Val2326=)
c.190G= (p.Val64=)
n.7088G=
5g.90692725G>TCA360371602ADGRV1c.7072G>T (p.Val2358Phe)
c.265+16516G>T (n.265+16516G>T)
n.2531G>T
c.879G>T
n.216G>T
c.4363G>T (p.Val1455Phe)
c.1801G>T
n.7085G>T
c.7069G>T (p.Val2357Phe)
c.6991G>T (p.Val2331Phe)
c.4375G>T (p.Val1459Phe)
c.6976G>T (p.Val2326Phe)
c.190G>T (p.Val64Phe)
n.7088G>T
5g.90692725_90692726delCA1562859304ADGRV1c.7072_7073del (p.Val2358LeufsTer14)
c.265+16516_265+16517del (n.265+16516_265+16517del)
n.2531_2532del
c.879_880del
n.216_217del
c.4363_4364del (p.Val1455LeufsTer14)
c.1801_1802del
n.7085_7086del
c.7069_7070del (p.Val2357LeufsTer14)
c.6991_6992del (p.Val2331LeufsTer14)
c.4375_4376del (p.Val1459LeufsTer14)
c.6976_6977del (p.Val2326LeufsTer14)
c.190_191del (p.Val64LeufsTer14)
n.7088_7089del
 dbSNP
5g.90692726T>ACA360371611ADGRV1c.7073T>A (p.Val2358Asp)
c.265+16517T>A (n.265+16517T>A)
n.2532T>A
c.880T>A
n.217T>A
c.4364T>A (p.Val1455Asp)
c.1802T>A
n.7086T>A
c.7070T>A (p.Val2357Asp)
c.6992T>A (p.Val2331Asp)
c.4376T>A (p.Val1459Asp)
c.6977T>A (p.Val2326Asp)
c.191T>A (p.Val64Asp)
n.7089T>A
5g.90692726T>CCA360371612ADGRV1c.7073T>C (p.Val2358Ala)
c.265+16517T>C (n.265+16517T>C)
n.2532T>C
c.880T>C
n.217T>C
c.4364T>C (p.Val1455Ala)
c.1802T>C
n.7086T>C
c.7070T>C (p.Val2357Ala)
c.6992T>C (p.Val2331Ala)
c.4376T>C (p.Val1459Ala)
c.6977T>C (p.Val2326Ala)
c.191T>C (p.Val64Ala)
n.7089T>C
5g.90692726T>GCA360371618ADGRV1c.7073T>G (p.Val2358Gly)
c.265+16517T>G (n.265+16517T>G)
n.2532T>G
c.880T>G
n.217T>G
c.4364T>G (p.Val1455Gly)
c.1802T>G
n.7086T>G
c.7070T>G (p.Val2357Gly)
c.6992T>G (p.Val2331Gly)
c.4376T>G (p.Val1459Gly)
c.6977T>G (p.Val2326Gly)
c.191T>G (p.Val64Gly)
n.7089T>G
5g.90692727T>ACA445404543ADGRV1c.7074T>A (p.Val2358=)
c.265+16518T>A (n.265+16518T>A)
n.2533T>A
c.881T>A
n.218T>A
c.4365T>A (p.Val1455=)
c.1803T>A
n.7087T>A
c.7071T>A (p.Val2357=)
c.6993T>A (p.Val2331=)
c.4377T>A (p.Val1459=)
c.6978T>A (p.Val2326=)
c.192T>A (p.Val64=)
n.7090T>A
5g.90692727T>CCA445404544ADGRV1c.7074T>C (p.Val2358=)
c.265+16518T>C (n.265+16518T>C)
n.2533T>C
c.881T>C
n.218T>C
c.4365T>C (p.Val1455=)
c.1803T>C
n.7087T>C
c.7071T>C (p.Val2357=)
c.6993T>C (p.Val2331=)
c.4377T>C (p.Val1459=)
c.6978T>C (p.Val2326=)
c.192T>C (p.Val64=)
n.7090T>C
5g.90692727T>GCA445404545ADGRV1c.7074T>G (p.Val2358=)
c.265+16518T>G (n.265+16518T>G)
n.2533T>G
c.881T>G
n.218T>G
c.4365T>G (p.Val1455=)
c.1803T>G
n.7087T>G
c.7071T>G (p.Val2357=)
c.6993T>G (p.Val2331=)
c.4377T>G (p.Val1459=)
c.6978T>G (p.Val2326=)
c.192T>G (p.Val64=)
n.7090T>G
5g.90692728T>ACA360371621ADGRV1c.7075T>A (p.Tyr2359Asn)
c.265+16519T>A (n.265+16519T>A)
n.2534T>A
c.882T>A
n.219T>A
c.4366T>A (p.Tyr1456Asn)
c.1804T>A
n.7088T>A
c.7072T>A (p.Tyr2358Asn)
c.6994T>A (p.Tyr2332Asn)
c.4378T>A (p.Tyr1460Asn)
c.6979T>A (p.Tyr2327Asn)
c.193T>A (p.Tyr65Asn)
n.7091T>A
5g.90692728T>CCA360371622ADGRV1c.7075T>C (p.Tyr2359His)
c.265+16519T>C (n.265+16519T>C)
n.2534T>C
c.882T>C
n.219T>C
c.4366T>C (p.Tyr1456His)
c.1804T>C
n.7088T>C
c.7072T>C (p.Tyr2358His)
c.6994T>C (p.Tyr2332His)
c.4378T>C (p.Tyr1460His)
c.6979T>C (p.Tyr2327His)
c.193T>C (p.Tyr65His)
n.7091T>C
5g.90692728T>GCA360371623ADGRV1c.7075T>G (p.Tyr2359Asp)
c.265+16519T>G (n.265+16519T>G)
n.2534T>G
c.882T>G
n.219T>G
c.4366T>G (p.Tyr1456Asp)
c.1804T>G
n.7088T>G
c.7072T>G (p.Tyr2358Asp)
c.6994T>G (p.Tyr2332Asp)
c.4378T>G (p.Tyr1460Asp)
c.6979T>G (p.Tyr2327Asp)
c.193T>G (p.Tyr65Asp)
n.7091T>G
 gnomAD v4
5g.90692729A=CA1562859306ADGRV1c.7076A= (p.Tyr2359=)
c.265+16520A= (n.265+16520A=)
n.2535A=
c.883A=
n.220A=
c.4367A= (p.Tyr1456=)
c.1805A=
n.7089A=
c.7073A= (p.Tyr2358=)
c.6995A= (p.Tyr2332=)
c.4379A= (p.Tyr1460=)
c.6980A= (p.Tyr2327=)
c.194A= (p.Tyr65=)
n.7092A=
5g.90692729A>CCA360371627ADGRV1c.7076A>C (p.Tyr2359Ser)
c.265+16520A>C (n.265+16520A>C)
n.2535A>C
c.883A>C
n.220A>C
c.4367A>C (p.Tyr1456Ser)
c.1805A>C
n.7089A>C
c.7073A>C (p.Tyr2358Ser)
c.6995A>C (p.Tyr2332Ser)
c.4379A>C (p.Tyr1460Ser)
c.6980A>C (p.Tyr2327Ser)
c.194A>C (p.Tyr65Ser)
n.7092A>C
5g.90692729A>GCA360371631ADGRV1c.7076A>G (p.Tyr2359Cys)
c.265+16520A>G (n.265+16520A>G)
n.2535A>G
c.883A>G
n.220A>G
c.4367A>G (p.Tyr1456Cys)
c.1805A>G
n.7089A>G
c.7073A>G (p.Tyr2358Cys)
c.6995A>G (p.Tyr2332Cys)
c.4379A>G (p.Tyr1460Cys)
c.6980A>G (p.Tyr2327Cys)
c.194A>G (p.Tyr65Cys)
n.7092A>G
5g.90692729A>TCA360371637ADGRV1c.7076A>T (p.Tyr2359Phe)
c.265+16520A>T (n.265+16520A>T)
n.2535A>T
c.883A>T
n.220A>T
c.4367A>T (p.Tyr1456Phe)
c.1805A>T
n.7089A>T
c.7073A>T (p.Tyr2358Phe)
c.6995A>T (p.Tyr2332Phe)
c.4379A>T (p.Tyr1460Phe)
c.6980A>T (p.Tyr2327Phe)
c.194A>T (p.Tyr65Phe)
n.7092A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90692730T>ACA360371640ADGRV1c.7077T>A (p.Tyr2359Ter)
c.265+16521T>A (n.265+16521T>A)
n.2536T>A
c.884T>A
n.221T>A
c.4368T>A (p.Tyr1456Ter)
c.1806T>A
n.7090T>A
c.7074T>A (p.Tyr2358Ter)
c.6996T>A (p.Tyr2332Ter)
c.4380T>A (p.Tyr1460Ter)
c.6981T>A (p.Tyr2327Ter)
c.195T>A (p.Tyr65Ter)
n.7093T>A
5g.90692730T>CCA445404546ADGRV1c.7077T>C (p.Tyr2359=)
c.265+16521T>C (n.265+16521T>C)
n.2536T>C
c.884T>C
n.221T>C
c.4368T>C (p.Tyr1456=)
c.1806T>C
n.7090T>C
c.7074T>C (p.Tyr2358=)
c.6996T>C (p.Tyr2332=)
c.4380T>C (p.Tyr1460=)
c.6981T>C (p.Tyr2327=)
c.195T>C (p.Tyr65=)
n.7093T>C
5g.90692730T>GCA360371644ADGRV1c.7077T>G (p.Tyr2359Ter)
c.265+16521T>G (n.265+16521T>G)
n.2536T>G
c.884T>G
n.221T>G
c.4368T>G (p.Tyr1456Ter)
c.1806T>G
n.7090T>G
c.7074T>G (p.Tyr2358Ter)
c.6996T>G (p.Tyr2332Ter)
c.4380T>G (p.Tyr1460Ter)
c.6981T>G (p.Tyr2327Ter)
c.195T>G (p.Tyr65Ter)
n.7093T>G
5g.90692731C>ACA360371649ADGRV1c.7078C>A (p.Arg2360Ser)
c.265+16522C>A (n.265+16522C>A)
n.2537C>A
c.885C>A
n.222C>A
c.4369C>A (p.Arg1457Ser)
c.1807C>A
n.7091C>A
c.7075C>A (p.Arg2359Ser)
c.6997C>A (p.Arg2333Ser)
c.4381C>A (p.Arg1461Ser)
c.6982C>A (p.Arg2328Ser)
c.196C>A (p.Arg66Ser)
n.7094C>A
 gnomAD v4
5g.90692731C=CA1562859309ADGRV1c.7078C= (p.Arg2360=)
c.265+16522C= (n.265+16522C=)
n.2537C=
c.885C=
n.222C=
c.4369C= (p.Arg1457=)
c.1807C=
n.7091C=
c.7075C= (p.Arg2359=)
c.6997C= (p.Arg2333=)
c.4381C= (p.Arg1461=)
c.6982C= (p.Arg2328=)
c.196C= (p.Arg66=)
n.7094C=
5g.90692731C>GCA360371663ADGRV1c.7078C>G (p.Arg2360Gly)
c.265+16522C>G (n.265+16522C>G)
n.2537C>G
c.885C>G
n.222C>G
c.4369C>G (p.Arg1457Gly)
c.1807C>G
n.7091C>G
c.7075C>G (p.Arg2359Gly)
c.6997C>G (p.Arg2333Gly)
c.4381C>G (p.Arg1461Gly)
c.6982C>G (p.Arg2328Gly)
c.196C>G (p.Arg66Gly)
n.7094C>G
5g.90692731C>TCA3339963ADGRV1c.7078C>T (p.Arg2360Cys)
c.265+16522C>T (n.265+16522C>T)
n.2537C>T
c.885C>T
n.222C>T
c.4369C>T (p.Arg1457Cys)
c.1807C>T
n.7091C>T
c.7075C>T (p.Arg2359Cys)
c.6997C>T (p.Arg2333Cys)
c.4381C>T (p.Arg1461Cys)
c.6982C>T (p.Arg2328Cys)
c.196C>T (p.Arg66Cys)
n.7094C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90692731_90692732delinsCGCA1562859308ADGRV1c.7078_7079delinsCG (p.Arg2360=)
c.265+16522_265+16523delinsCG (n.265+16522_265+16523delinsCG)
n.2537_2538delinsCG
c.885_886delinsCG
n.222_223delinsCG
c.4369_4370delinsCG (p.Arg1457=)
c.1807_1808delinsCG
n.7091_7092delinsCG
c.7075_7076delinsCG (p.Arg2359=)
c.6997_6998delinsCG (p.Arg2333=)
c.4381_4382delinsCG (p.Arg1461=)
c.6982_6983delinsCG (p.Arg2328=)
c.196_197delinsCG (p.Arg66=)
n.7094_7095delinsCG
5g.90692731_90692732delinsTACA1562859307ADGRV1c.7078_7079delinsTA (p.Arg2360Tyr)
c.265+16522_265+16523delinsTA (n.265+16522_265+16523delinsTA)
n.2537_2538delinsTA
c.885_886delinsTA
n.222_223delinsTA
c.4369_4370delinsTA (p.Arg1457Tyr)
c.1807_1808delinsTA
n.7091_7092delinsTA
c.7075_7076delinsTA (p.Arg2359Tyr)
c.6997_6998delinsTA (p.Arg2333Tyr)
c.4381_4382delinsTA (p.Arg1461Tyr)
c.6982_6983delinsTA (p.Arg2328Tyr)
c.196_197delinsTA (p.Arg66Tyr)
n.7094_7095delinsTA
 ClinVar dbSNP
5g.90692732G>ACA138192ADGRV1c.7079G>A (p.Arg2360His)
c.265+16523G>A (n.265+16523G>A)
n.2538G>A
c.886G>A
n.223G>A
c.4370G>A (p.Arg1457His)
c.1808G>A
n.7092G>A
c.7076G>A (p.Arg2359His)
c.6998G>A (p.Arg2333His)
c.4382G>A (p.Arg1461His)
c.6983G>A (p.Arg2328His)
c.197G>A (p.Arg66His)
n.7095G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692732G>CCA360371679ADGRV1c.7079G>C (p.Arg2360Pro)
c.265+16523G>C (n.265+16523G>C)
n.2538G>C
c.886G>C
n.223G>C
c.4370G>C (p.Arg1457Pro)
c.1808G>C
n.7092G>C
c.7076G>C (p.Arg2359Pro)
c.6998G>C (p.Arg2333Pro)
c.4382G>C (p.Arg1461Pro)
c.6983G>C (p.Arg2328Pro)
c.197G>C (p.Arg66Pro)
n.7095G>C
 gnomAD v4
5g.90692732G=CA1562859310ADGRV1c.7079G= (p.Arg2360=)
c.265+16523G= (n.265+16523G=)
n.2538G=
c.886G=
n.223G=
c.4370G= (p.Arg1457=)
c.1808G=
n.7092G=
c.7076G= (p.Arg2359=)
c.6998G= (p.Arg2333=)
c.4382G= (p.Arg1461=)
c.6983G= (p.Arg2328=)
c.197G= (p.Arg66=)
n.7095G=
5g.90692732G>TCA360371671ADGRV1c.7079G>T (p.Arg2360Leu)
c.265+16523G>T (n.265+16523G>T)
n.2538G>T
c.886G>T
n.223G>T
c.4370G>T (p.Arg1457Leu)
c.1808G>T
n.7092G>T
c.7076G>T (p.Arg2359Leu)
c.6998G>T (p.Arg2333Leu)
c.4382G>T (p.Arg1461Leu)
c.6983G>T (p.Arg2328Leu)
c.197G>T (p.Arg66Leu)
n.7095G>T
5g.90692733T>ACA445404552ADGRV1c.7080T>A (p.Arg2360=)
c.265+16524T>A (n.265+16524T>A)
n.2539T>A
c.887T>A
n.224T>A
c.4371T>A (p.Arg1457=)
c.1809T>A
n.7093T>A
c.7077T>A (p.Arg2359=)
c.6999T>A (p.Arg2333=)
c.4383T>A (p.Arg1461=)
c.6984T>A (p.Arg2328=)
c.198T>A (p.Arg66=)
n.7096T>A
5g.90692733T>CCA445404549ADGRV1c.7080T>C (p.Arg2360=)
c.265+16524T>C (n.265+16524T>C)
n.2539T>C
c.887T>C
n.224T>C
c.4371T>C (p.Arg1457=)
c.1809T>C
n.7093T>C
c.7077T>C (p.Arg2359=)
c.6999T>C (p.Arg2333=)
c.4383T>C (p.Arg1461=)
c.6984T>C (p.Arg2328=)
c.198T>C (p.Arg66=)
n.7096T>C
5g.90692733T>GCA445404551ADGRV1c.7080T>G (p.Arg2360=)
c.265+16524T>G (n.265+16524T>G)
n.2539T>G
c.887T>G
n.224T>G
c.4371T>G (p.Arg1457=)
c.1809T>G
n.7093T>G
c.7077T>G (p.Arg2359=)
c.6999T>G (p.Arg2333=)
c.4383T>G (p.Arg1461=)
c.6984T>G (p.Arg2328=)
c.198T>G (p.Arg66=)
n.7096T>G
5g.90692734G>ACA360371682ADGRV1c.7081G>A (p.Val2361Ile)
c.265+16525G>A (n.265+16525G>A)
n.2540G>A
c.888G>A
n.225G>A
c.4372G>A (p.Val1458Ile)
c.1810G>A
n.7094G>A
c.7078G>A (p.Val2360Ile)
c.7000G>A (p.Val2334Ile)
c.4384G>A (p.Val1462Ile)
c.6985G>A (p.Val2329Ile)
c.199G>A (p.Val67Ile)
n.7097G>A
 gnomAD v4
5g.90692734G>CCA360371685ADGRV1c.7081G>C (p.Val2361Leu)
c.265+16525G>C (n.265+16525G>C)
n.2540G>C
c.888G>C
n.225G>C
c.4372G>C (p.Val1458Leu)
c.1810G>C
n.7094G>C
c.7078G>C (p.Val2360Leu)
c.7000G>C (p.Val2334Leu)
c.4384G>C (p.Val1462Leu)
c.6985G>C (p.Val2329Leu)
c.199G>C (p.Val67Leu)
n.7097G>C
5g.90692734G>TCA360371690ADGRV1c.7081G>T (p.Val2361Phe)
c.265+16525G>T (n.265+16525G>T)
n.2540G>T
c.888G>T
n.225G>T
c.4372G>T (p.Val1458Phe)
c.1810G>T
n.7094G>T
c.7078G>T (p.Val2360Phe)
c.7000G>T (p.Val2334Phe)
c.4384G>T (p.Val1462Phe)
c.6985G>T (p.Val2329Phe)
c.199G>T (p.Val67Phe)
n.7097G>T
5g.90692735T>ACA360371694ADGRV1c.7082T>A (p.Val2361Asp)
c.265+16526T>A (n.265+16526T>A)
n.2541T>A
c.889T>A
n.226T>A
c.4373T>A (p.Val1458Asp)
c.1811T>A
n.7095T>A
c.7079T>A (p.Val2360Asp)
c.7001T>A (p.Val2334Asp)
c.4385T>A (p.Val1462Asp)
c.6986T>A (p.Val2329Asp)
c.200T>A (p.Val67Asp)
n.7098T>A
 dbSNP
5g.90692735T>CCA360371697ADGRV1c.7082T>C (p.Val2361Ala)
c.265+16526T>C (n.265+16526T>C)
n.2541T>C
c.889T>C
n.226T>C
c.4373T>C (p.Val1458Ala)
c.1811T>C
n.7095T>C
c.7079T>C (p.Val2360Ala)
c.7001T>C (p.Val2334Ala)
c.4385T>C (p.Val1462Ala)
c.6986T>C (p.Val2329Ala)
c.200T>C (p.Val67Ala)
n.7098T>C
5g.90692735T>GCA360371700ADGRV1c.7082T>G (p.Val2361Gly)
c.265+16526T>G (n.265+16526T>G)
n.2541T>G
c.889T>G
n.226T>G
c.4373T>G (p.Val1458Gly)
c.1811T>G
n.7095T>G
c.7079T>G (p.Val2360Gly)
c.7001T>G (p.Val2334Gly)
c.4385T>G (p.Val1462Gly)
c.6986T>G (p.Val2329Gly)
c.200T>G (p.Val67Gly)
n.7098T>G
5g.90692735T=CA1562859311ADGRV1c.7082T= (p.Val2361=)
c.265+16526T= (n.265+16526T=)
n.2541T=
c.889T=
n.226T=
c.4373T= (p.Val1458=)
c.1811T=
n.7095T=
c.7079T= (p.Val2360=)
c.7001T= (p.Val2334=)
c.4385T= (p.Val1462=)
c.6986T= (p.Val2329=)
c.200T= (p.Val67=)
n.7098T=
5g.90692736T>ACA445404553ADGRV1c.7083T>A (p.Val2361=)
c.265+16527T>A (n.265+16527T>A)
n.2542T>A
c.890T>A
n.227T>A
c.4374T>A (p.Val1458=)
c.1812T>A
n.7096T>A
c.7080T>A (p.Val2360=)
c.7002T>A (p.Val2334=)
c.4386T>A (p.Val1462=)
c.6987T>A (p.Val2329=)
c.201T>A (p.Val67=)
n.7099T>A
5g.90692736T>CCA445404554ADGRV1c.7083T>C (p.Val2361=)
c.265+16527T>C (n.265+16527T>C)
n.2542T>C
c.890T>C
n.227T>C
c.4374T>C (p.Val1458=)
c.1812T>C
n.7096T>C
c.7080T>C (p.Val2360=)
c.7002T>C (p.Val2334=)
c.4386T>C (p.Val1462=)
c.6987T>C (p.Val2329=)
c.201T>C (p.Val67=)
n.7099T>C
5g.90692736T>GCA445404555ADGRV1c.7083T>G (p.Val2361=)
c.265+16527T>G (n.265+16527T>G)
n.2542T>G
c.890T>G
n.227T>G
c.4374T>G (p.Val1458=)
c.1812T>G
n.7096T>G
c.7080T>G (p.Val2360=)
c.7002T>G (p.Val2334=)
c.4386T>G (p.Val1462=)
c.6987T>G (p.Val2329=)
c.201T>G (p.Val67=)
n.7099T>G
5g.90692737C>ACA360371710ADGRV1c.7084C>A (p.Gln2362Lys)
c.265+16528C>A (n.265+16528C>A)
n.2543C>A
c.891C>A
n.228C>A
c.4375C>A (p.Gln1459Lys)
c.1813C>A
n.7097C>A
c.7081C>A (p.Gln2361Lys)
c.7003C>A (p.Gln2335Lys)
c.4387C>A (p.Gln1463Lys)
c.6988C>A (p.Gln2330Lys)
c.202C>A (p.Gln68Lys)
n.7100C>A
5g.90692737C>GCA360371704ADGRV1c.7084C>G (p.Gln2362Glu)
c.265+16528C>G (n.265+16528C>G)
n.2543C>G
c.891C>G
n.228C>G
c.4375C>G (p.Gln1459Glu)
c.1813C>G
n.7097C>G
c.7081C>G (p.Gln2361Glu)
c.7003C>G (p.Gln2335Glu)
c.4387C>G (p.Gln1463Glu)
c.6988C>G (p.Gln2330Glu)
c.202C>G (p.Gln68Glu)
n.7100C>G
5g.90692737C>TCA360371707ADGRV1c.7084C>T (p.Gln2362Ter)
c.265+16528C>T (n.265+16528C>T)
n.2543C>T
c.891C>T
n.228C>T
c.4375C>T (p.Gln1459Ter)
c.1813C>T
n.7097C>T
c.7081C>T (p.Gln2361Ter)
c.7003C>T (p.Gln2335Ter)
c.4387C>T (p.Gln1463Ter)
c.6988C>T (p.Gln2330Ter)
c.202C>T (p.Gln68Ter)
n.7100C>T
 gnomAD v4
5g.90692738A=CA1562859312ADGRV1c.7085A= (p.Gln2362=)
c.265+16529A= (n.265+16529A=)
n.2544A=
c.892A=
n.229A=
c.4376A= (p.Gln1459=)
c.1814A=
n.7098A=
c.7082A= (p.Gln2361=)
c.7004A= (p.Gln2335=)
c.4388A= (p.Gln1463=)
c.6989A= (p.Gln2330=)
c.203A= (p.Gln68=)
n.7101A=
5g.90692738A>CCA360371711ADGRV1c.7085A>C (p.Gln2362Pro)
c.265+16529A>C (n.265+16529A>C)
n.2544A>C
c.892A>C
n.229A>C
c.4376A>C (p.Gln1459Pro)
c.1814A>C
n.7098A>C
c.7082A>C (p.Gln2361Pro)
c.7004A>C (p.Gln2335Pro)
c.4388A>C (p.Gln1463Pro)
c.6989A>C (p.Gln2330Pro)
c.203A>C (p.Gln68Pro)
n.7101A>C
5g.90692738A>GCA122797191ADGRV1c.7085A>G (p.Gln2362Arg)
c.265+16529A>G (n.265+16529A>G)
n.2544A>G
c.892A>G
n.229A>G
c.4376A>G (p.Gln1459Arg)
c.1814A>G
n.7098A>G
c.7082A>G (p.Gln2361Arg)
c.7004A>G (p.Gln2335Arg)
c.4388A>G (p.Gln1463Arg)
c.6989A>G (p.Gln2330Arg)
c.203A>G (p.Gln68Arg)
n.7101A>G
 dbSNP
5g.90692738A>TCA360371715ADGRV1c.7085A>T (p.Gln2362Leu)
c.265+16529A>T (n.265+16529A>T)
n.2544A>T
c.892A>T
n.229A>T
c.4376A>T (p.Gln1459Leu)
c.1814A>T
n.7098A>T
c.7082A>T (p.Gln2361Leu)
c.7004A>T (p.Gln2335Leu)
c.4388A>T (p.Gln1463Leu)
c.6989A>T (p.Gln2330Leu)
c.203A>T (p.Gln68Leu)
n.7101A>T
5g.90692739A>CCA360371722ADGRV1c.7086A>C (p.Gln2362His)
c.265+16530A>C (n.265+16530A>C)
n.2545A>C
c.893A>C
n.230A>C
c.4377A>C (p.Gln1459His)
c.1815A>C
n.7099A>C
c.7083A>C (p.Gln2361His)
c.7005A>C (p.Gln2335His)
c.4389A>C (p.Gln1463His)
c.6990A>C (p.Gln2330His)
c.204A>C (p.Gln68His)
n.7102A>C
5g.90692739A>GCA445404558ADGRV1c.7086A>G (p.Gln2362=)
c.265+16530A>G (n.265+16530A>G)
n.2545A>G
c.893A>G
n.230A>G
c.4377A>G (p.Gln1459=)
c.1815A>G
n.7099A>G
c.7083A>G (p.Gln2361=)
c.7005A>G (p.Gln2335=)
c.4389A>G (p.Gln1463=)
c.6990A>G (p.Gln2330=)
c.204A>G (p.Gln68=)
n.7102A>G
5g.90692739A>TCA360371729ADGRV1c.7086A>T (p.Gln2362His)
c.265+16530A>T (n.265+16530A>T)
n.2545A>T
c.893A>T
n.230A>T
c.4377A>T (p.Gln1459His)
c.1815A>T
n.7099A>T
c.7083A>T (p.Gln2361His)
c.7005A>T (p.Gln2335His)
c.4389A>T (p.Gln1463His)
c.6990A>T (p.Gln2330His)
c.204A>T (p.Gln68His)
n.7102A>T
5g.90692740G>ACA360371738ADGRV1c.7087G>A (p.Glu2363Lys)
c.265+16531G>A (n.265+16531G>A)
n.2546G>A
c.894G>A
n.231G>A
c.4378G>A (p.Glu1460Lys)
c.1816G>A
n.7100G>A
c.7084G>A (p.Glu2362Lys)
c.7006G>A (p.Glu2336Lys)
c.4390G>A (p.Glu1464Lys)
c.6991G>A (p.Glu2331Lys)
c.205G>A (p.Glu69Lys)
n.7103G>A
 gnomAD v4
5g.90692740G>CCA360371732ADGRV1c.7087G>C (p.Glu2363Gln)
c.265+16531G>C (n.265+16531G>C)
n.2546G>C
c.894G>C
n.231G>C
c.4378G>C (p.Glu1460Gln)
c.1816G>C
n.7100G>C
c.7084G>C (p.Glu2362Gln)
c.7006G>C (p.Glu2336Gln)
c.4390G>C (p.Glu1464Gln)
c.6991G>C (p.Glu2331Gln)
c.205G>C (p.Glu69Gln)
n.7103G>C
 ClinVar gnomAD v4
5g.90692740G>TCA360371734ADGRV1c.7087G>T (p.Glu2363Ter)
c.265+16531G>T (n.265+16531G>T)
n.2546G>T
c.894G>T
n.231G>T
c.4378G>T (p.Glu1460Ter)
c.1816G>T
n.7100G>T
c.7084G>T (p.Glu2362Ter)
c.7006G>T (p.Glu2336Ter)
c.4390G>T (p.Glu1464Ter)
c.6991G>T (p.Glu2331Ter)
c.205G>T (p.Glu69Ter)
n.7103G>T
5g.90692741A>CCA360371741ADGRV1c.7088A>C (p.Glu2363Ala)
c.265+16532A>C (n.265+16532A>C)
n.2547A>C
c.895A>C
n.232A>C
c.4379A>C (p.Glu1460Ala)
c.1817A>C
n.7101A>C
c.7085A>C (p.Glu2362Ala)
c.7007A>C (p.Glu2336Ala)
c.4391A>C (p.Glu1464Ala)
c.6992A>C (p.Glu2331Ala)
c.206A>C (p.Glu69Ala)
n.7104A>C
5g.90692741A>GCA360371743ADGRV1c.7088A>G (p.Glu2363Gly)
c.265+16532A>G (n.265+16532A>G)
n.2547A>G
c.895A>G
n.232A>G
c.4379A>G (p.Glu1460Gly)
c.1817A>G
n.7101A>G
c.7085A>G (p.Glu2362Gly)
c.7007A>G (p.Glu2336Gly)
c.4391A>G (p.Glu1464Gly)
c.6992A>G (p.Glu2331Gly)
c.206A>G (p.Glu69Gly)
n.7104A>G
 gnomAD v4
5g.90692741A>TCA360371747ADGRV1c.7088A>T (p.Glu2363Val)
c.265+16532A>T (n.265+16532A>T)
n.2547A>T
c.895A>T
n.232A>T
c.4379A>T (p.Glu1460Val)
c.1817A>T
n.7101A>T
c.7085A>T (p.Glu2362Val)
c.7007A>T (p.Glu2336Val)
c.4391A>T (p.Glu1464Val)
c.6992A>T (p.Glu2331Val)
c.206A>T (p.Glu69Val)
n.7104A>T
5g.90692742G>ACA445404560ADGRV1c.7089G>A (p.Glu2363=)
c.265+16533G>A (n.265+16533G>A)
n.2548G>A
c.896G>A
n.233G>A
c.4380G>A (p.Glu1460=)
c.1818G>A
n.7102G>A
c.7086G>A (p.Glu2362=)
c.7008G>A (p.Glu2336=)
c.4392G>A (p.Glu1464=)
c.6993G>A (p.Glu2331=)
c.207G>A (p.Glu69=)
n.7105G>A
 gnomAD v4
5g.90692742G>CCA360371748ADGRV1c.7089G>C (p.Glu2363Asp)
c.265+16533G>C (n.265+16533G>C)
n.2548G>C
c.896G>C
n.233G>C
c.4380G>C (p.Glu1460Asp)
c.1818G>C
n.7102G>C
c.7086G>C (p.Glu2362Asp)
c.7008G>C (p.Glu2336Asp)
c.4392G>C (p.Glu1464Asp)
c.6993G>C (p.Glu2331Asp)
c.207G>C (p.Glu69Asp)
n.7105G>C
5g.90692742G>TCA360371749ADGRV1c.7089G>T (p.Glu2363Asp)
c.265+16533G>T (n.265+16533G>T)
n.2548G>T
c.896G>T
n.233G>T
c.4380G>T (p.Glu1460Asp)
c.1818G>T
n.7102G>T
c.7086G>T (p.Glu2362Asp)
c.7008G>T (p.Glu2336Asp)
c.4392G>T (p.Glu1464Asp)
c.6993G>T (p.Glu2331Asp)
c.207G>T (p.Glu69Asp)
n.7105G>T
5g.90692743C>ACA360371752ADGRV1c.7090C>A (p.Pro2364Thr)
c.265+16534C>A (n.265+16534C>A)
n.2549C>A
c.897C>A
n.234C>A
c.4381C>A (p.Pro1461Thr)
c.1819C>A
n.7103C>A
c.7087C>A (p.Pro2363Thr)
c.7009C>A (p.Pro2337Thr)
c.4393C>A (p.Pro1465Thr)
c.6994C>A (p.Pro2332Thr)
c.208C>A (p.Pro70Thr)
n.7106C>A
 dbSNP gnomAD v2 gnomAD v4
5g.90692743C=CA1562859313ADGRV1c.7090C= (p.Pro2364=)
c.265+16534C= (n.265+16534C=)
n.2549C=
c.897C=
n.234C=
c.4381C= (p.Pro1461=)
c.1819C=
n.7103C=
c.7087C= (p.Pro2363=)
c.7009C= (p.Pro2337=)
c.4393C= (p.Pro1465=)
c.6994C= (p.Pro2332=)
c.208C= (p.Pro70=)
n.7106C=
5g.90692743C>GCA360371754ADGRV1c.7090C>G (p.Pro2364Ala)
c.265+16534C>G (n.265+16534C>G)
n.2549C>G
c.897C>G
n.234C>G
c.4381C>G (p.Pro1461Ala)
c.1819C>G
n.7103C>G
c.7087C>G (p.Pro2363Ala)
c.7009C>G (p.Pro2337Ala)
c.4393C>G (p.Pro1465Ala)
c.6994C>G (p.Pro2332Ala)
c.208C>G (p.Pro70Ala)
n.7106C>G
5g.90692743C>TCA360371758ADGRV1c.7090C>T (p.Pro2364Ser)
c.265+16534C>T (n.265+16534C>T)
n.2549C>T
c.897C>T
n.234C>T
c.4381C>T (p.Pro1461Ser)
c.1819C>T
n.7103C>T
c.7087C>T (p.Pro2363Ser)
c.7009C>T (p.Pro2337Ser)
c.4393C>T (p.Pro1465Ser)
c.6994C>T (p.Pro2332Ser)
c.208C>T (p.Pro70Ser)
n.7106C>T
 gnomAD v4
5g.90692744C>ACA360371763ADGRV1c.7091C>A (p.Pro2364His)
c.265+16535C>A (n.265+16535C>A)
n.2550C>A
c.898C>A
n.235C>A
c.4382C>A (p.Pro1461His)
c.1820C>A
n.7104C>A
c.7088C>A (p.Pro2363His)
c.7010C>A (p.Pro2337His)
c.4394C>A (p.Pro1465His)
c.6995C>A (p.Pro2332His)
c.209C>A (p.Pro70His)
n.7107C>A
5g.90692744C>GCA360371767ADGRV1c.7091C>G (p.Pro2364Arg)
c.265+16535C>G (n.265+16535C>G)
n.2550C>G
c.898C>G
n.235C>G
c.4382C>G (p.Pro1461Arg)
c.1820C>G
n.7104C>G
c.7088C>G (p.Pro2363Arg)
c.7010C>G (p.Pro2337Arg)
c.4394C>G (p.Pro1465Arg)
c.6995C>G (p.Pro2332Arg)
c.209C>G (p.Pro70Arg)
n.7107C>G
5g.90692744C>TCA360371768ADGRV1c.7091C>T (p.Pro2364Leu)
c.265+16535C>T (n.265+16535C>T)
n.2550C>T
c.898C>T
n.235C>T
c.4382C>T (p.Pro1461Leu)
c.1820C>T
n.7104C>T
c.7088C>T (p.Pro2363Leu)
c.7010C>T (p.Pro2337Leu)
c.4394C>T (p.Pro1465Leu)
c.6995C>T (p.Pro2332Leu)
c.209C>T (p.Pro70Leu)
n.7107C>T
5g.90692745T>ACA445404566ADGRV1c.7092T>A (p.Pro2364=)
c.265+16536T>A (n.265+16536T>A)
n.2551T>A
c.899T>A
n.236T>A
c.4383T>A (p.Pro1461=)
c.1821T>A
n.7105T>A
c.7089T>A (p.Pro2363=)
c.7011T>A (p.Pro2337=)
c.4395T>A (p.Pro1465=)
c.6996T>A (p.Pro2332=)
c.210T>A (p.Pro70=)
n.7108T>A
 ClinVar dbSNP
5g.90692745T>CCA445404567ADGRV1c.7092T>C (p.Pro2364=)
c.265+16536T>C (n.265+16536T>C)
n.2551T>C
c.899T>C
n.236T>C
c.4383T>C (p.Pro1461=)
c.1821T>C
n.7105T>C
c.7089T>C (p.Pro2363=)
c.7011T>C (p.Pro2337=)
c.4395T>C (p.Pro1465=)
c.6996T>C (p.Pro2332=)
c.210T>C (p.Pro70=)
n.7108T>C
 gnomAD v4
5g.90692745T>GCA445404569ADGRV1c.7092T>G (p.Pro2364=)
c.265+16536T>G (n.265+16536T>G)
n.2551T>G
c.899T>G
n.236T>G
c.4383T>G (p.Pro1461=)
c.1821T>G
n.7105T>G
c.7089T>G (p.Pro2363=)
c.7011T>G (p.Pro2337=)
c.4395T>G (p.Pro1465=)
c.6996T>G (p.Pro2332=)
c.210T>G (p.Pro70=)
n.7108T>G
5g.90692745T=CA1562859314ADGRV1c.7092T= (p.Pro2364=)
c.265+16536T= (n.265+16536T=)
n.2551T=
c.899T=
n.236T=
c.4383T= (p.Pro1461=)
c.1821T=
n.7105T=
c.7089T= (p.Pro2363=)
c.7011T= (p.Pro2337=)
c.4395T= (p.Pro1465=)
c.6996T= (p.Pro2332=)
c.210T= (p.Pro70=)
n.7108T=
5g.90692746C>ACA360371769ADGRV1c.7093C>A (p.Leu2365Met)
c.265+16537C>A (n.265+16537C>A)
n.2552C>A
c.900C>A
n.237C>A
c.4384C>A (p.Leu1462Met)
c.1822C>A
n.7106C>A
c.7090C>A (p.Leu2364Met)
c.7012C>A (p.Leu2338Met)
c.4396C>A (p.Leu1466Met)
c.6997C>A (p.Leu2333Met)
c.211C>A (p.Leu71Met)
n.7109C>A
5g.90692746C>GCA360371770ADGRV1c.7093C>G (p.Leu2365Val)
c.265+16537C>G (n.265+16537C>G)
n.2552C>G
c.900C>G
n.237C>G
c.4384C>G (p.Leu1462Val)
c.1822C>G
n.7106C>G
c.7090C>G (p.Leu2364Val)
c.7012C>G (p.Leu2338Val)
c.4396C>G (p.Leu1466Val)
c.6997C>G (p.Leu2333Val)
c.211C>G (p.Leu71Val)
n.7109C>G
5g.90692746C>TCA445404572ADGRV1c.7093C>T (p.Leu2365=)
c.265+16537C>T (n.265+16537C>T)
n.2552C>T
c.900C>T
n.237C>T
c.4384C>T (p.Leu1462=)
c.1822C>T
n.7106C>T
c.7090C>T (p.Leu2364=)
c.7012C>T (p.Leu2338=)
c.4396C>T (p.Leu1466=)
c.6997C>T (p.Leu2333=)
c.211C>T (p.Leu71=)
n.7109C>T
 gnomAD v4
5g.90692747T>ACA360371775ADGRV1c.7094T>A (p.Leu2365Gln)
c.265+16538T>A (n.265+16538T>A)
n.2553T>A
c.901T>A
n.238T>A
c.4385T>A (p.Leu1462Gln)
c.1823T>A
n.7107T>A
c.7091T>A (p.Leu2364Gln)
c.7013T>A (p.Leu2338Gln)
c.4397T>A (p.Leu1466Gln)
c.6998T>A (p.Leu2333Gln)
c.212T>A (p.Leu71Gln)
n.7110T>A
5g.90692747T>CCA360371787ADGRV1c.7094T>C (p.Leu2365Pro)
c.265+16538T>C (n.265+16538T>C)
n.2553T>C
c.901T>C
n.238T>C
c.4385T>C (p.Leu1462Pro)
c.1823T>C
n.7107T>C
c.7091T>C (p.Leu2364Pro)
c.7013T>C (p.Leu2338Pro)
c.4397T>C (p.Leu1466Pro)
c.6998T>C (p.Leu2333Pro)
c.212T>C (p.Leu71Pro)
n.7110T>C
5g.90692747T>GCA360371776ADGRV1c.7094T>G (p.Leu2365Arg)
c.265+16538T>G (n.265+16538T>G)
n.2553T>G
c.901T>G
n.238T>G
c.4385T>G (p.Leu1462Arg)
c.1823T>G
n.7107T>G
c.7091T>G (p.Leu2364Arg)
c.7013T>G (p.Leu2338Arg)
c.4397T>G (p.Leu1466Arg)
c.6998T>G (p.Leu2333Arg)
c.212T>G (p.Leu71Arg)
n.7110T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692747T=CA1562859315ADGRV1c.7094T= (p.Leu2365=)
c.265+16538T= (n.265+16538T=)
n.2553T=
c.901T=
n.238T=
c.4385T= (p.Leu1462=)
c.1823T=
n.7107T=
c.7091T= (p.Leu2364=)
c.7013T= (p.Leu2338=)
c.4397T= (p.Leu1466=)
c.6998T= (p.Leu2333=)
c.212T= (p.Leu71=)
n.7110T=
5g.90692748G>ACA244177ADGRV1c.7095G>A (p.Leu2365=)
c.265+16539G>A (n.265+16539G>A)
n.2554G>A
c.902G>A
n.239G>A
c.4386G>A (p.Leu1462=)
c.1824G>A
n.7108G>A
c.7092G>A (p.Leu2364=)
c.7014G>A (p.Leu2338=)
c.4398G>A (p.Leu1466=)
c.6999G>A (p.Leu2333=)
c.213G>A (p.Leu71=)
n.7111G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692748G>CCA445404574ADGRV1c.7095G>C (p.Leu2365=)
c.265+16539G>C (n.265+16539G>C)
n.2554G>C
c.902G>C
n.239G>C
c.4386G>C (p.Leu1462=)
c.1824G>C
n.7108G>C
c.7092G>C (p.Leu2364=)
c.7014G>C (p.Leu2338=)
c.4398G>C (p.Leu1466=)
c.6999G>C (p.Leu2333=)
c.213G>C (p.Leu71=)
n.7111G>C
5g.90692748G=CA1562859316ADGRV1c.7095G= (p.Leu2365=)
c.265+16539G= (n.265+16539G=)
n.2554G=
c.902G=
n.239G=
c.4386G= (p.Leu1462=)
c.1824G=
n.7108G=
c.7092G= (p.Leu2364=)
c.7014G= (p.Leu2338=)
c.4398G= (p.Leu1466=)
c.6999G= (p.Leu2333=)
c.213G= (p.Leu71=)
n.7111G=
5g.90692748G>TCA445404575ADGRV1c.7095G>T (p.Leu2365=)
c.265+16539G>T (n.265+16539G>T)
n.2554G>T
c.902G>T
n.239G>T
c.4386G>T (p.Leu1462=)
c.1824G>T
n.7108G>T
c.7092G>T (p.Leu2364=)
c.7014G>T (p.Leu2338=)
c.4398G>T (p.Leu1466=)
c.6999G>T (p.Leu2333=)
c.213G>T (p.Leu71=)
n.7111G>T
 dbSNP
5g.90692749G>ACA360371790ADGRV1c.7096G>A (p.Glu2366Lys)
c.265+16540G>A (n.265+16540G>A)
n.2555G>A
c.903G>A
n.240G>A
c.4387G>A (p.Glu1463Lys)
c.1825G>A
n.7109G>A
c.7093G>A (p.Glu2365Lys)
c.7015G>A (p.Glu2339Lys)
c.4399G>A (p.Glu1467Lys)
c.7000G>A (p.Glu2334Lys)
c.214G>A (p.Glu72Lys)
n.7112G>A
5g.90692749G>CCA360371791ADGRV1c.7096G>C (p.Glu2366Gln)
c.265+16540G>C (n.265+16540G>C)
n.2555G>C
c.903G>C
n.240G>C
c.4387G>C (p.Glu1463Gln)
c.1825G>C
n.7109G>C
c.7093G>C (p.Glu2365Gln)
c.7015G>C (p.Glu2339Gln)
c.4399G>C (p.Glu1467Gln)
c.7000G>C (p.Glu2334Gln)
c.214G>C (p.Glu72Gln)
n.7112G>C
5g.90692749G>TCA360371795ADGRV1c.7096G>T (p.Glu2366Ter)
c.265+16540G>T (n.265+16540G>T)
n.2555G>T
c.903G>T
n.240G>T
c.4387G>T (p.Glu1463Ter)
c.1825G>T
n.7109G>T
c.7093G>T (p.Glu2365Ter)
c.7015G>T (p.Glu2339Ter)
c.4399G>T (p.Glu1467Ter)
c.7000G>T (p.Glu2334Ter)
c.214G>T (p.Glu72Ter)
n.7112G>T
 gnomAD v4
5g.90692750A>CCA360371798ADGRV1c.7097A>C (p.Glu2366Ala)
c.265+16541A>C (n.265+16541A>C)
n.2556A>C
c.904A>C
n.241A>C
c.4388A>C (p.Glu1463Ala)
c.1826A>C
n.7110A>C
c.7094A>C (p.Glu2365Ala)
c.7016A>C (p.Glu2339Ala)
c.4400A>C (p.Glu1467Ala)
c.7001A>C (p.Glu2334Ala)
c.215A>C (p.Glu72Ala)
n.7113A>C
5g.90692750A>GCA360371799ADGRV1c.7097A>G (p.Glu2366Gly)
c.265+16541A>G (n.265+16541A>G)
n.2556A>G
c.904A>G
n.241A>G
c.4388A>G (p.Glu1463Gly)
c.1826A>G
n.7110A>G
c.7094A>G (p.Glu2365Gly)
c.7016A>G (p.Glu2339Gly)
c.4400A>G (p.Glu1467Gly)
c.7001A>G (p.Glu2334Gly)
c.215A>G (p.Glu72Gly)
n.7113A>G
 ClinVar dbSNP
5g.90692750A>TCA360371800ADGRV1c.7097A>T (p.Glu2366Val)
c.265+16541A>T (n.265+16541A>T)
n.2556A>T
c.904A>T
n.241A>T
c.4388A>T (p.Glu1463Val)
c.1826A>T
n.7110A>T
c.7094A>T (p.Glu2365Val)
c.7016A>T (p.Glu2339Val)
c.4400A>T (p.Glu1467Val)
c.7001A>T (p.Glu2334Val)
c.215A>T (p.Glu72Val)
n.7113A>T
5g.90692751A>CCA360371805ADGRV1c.7098A>C (p.Glu2366Asp)
c.265+16542A>C (n.265+16542A>C)
n.2557A>C
c.905A>C
n.242A>C
c.4389A>C (p.Glu1463Asp)
c.1827A>C
n.7111A>C
c.7095A>C (p.Glu2365Asp)
c.7017A>C (p.Glu2339Asp)
c.4401A>C (p.Glu1467Asp)
c.7002A>C (p.Glu2334Asp)
c.216A>C (p.Glu72Asp)
n.7114A>C
5g.90692751A>GCA445404577ADGRV1c.7098A>G (p.Glu2366=)
c.265+16542A>G (n.265+16542A>G)
n.2557A>G
c.905A>G
n.242A>G
c.4389A>G (p.Glu1463=)
c.1827A>G
n.7111A>G
c.7095A>G (p.Glu2365=)
c.7017A>G (p.Glu2339=)
c.4401A>G (p.Glu1467=)
c.7002A>G (p.Glu2334=)
c.216A>G (p.Glu72=)
n.7114A>G
5g.90692751A>TCA360371809ADGRV1c.7098A>T (p.Glu2366Asp)
c.265+16542A>T (n.265+16542A>T)
n.2557A>T
c.905A>T
n.242A>T
c.4389A>T (p.Glu1463Asp)
c.1827A>T
n.7111A>T
c.7095A>T (p.Glu2365Asp)
c.7017A>T (p.Glu2339Asp)
c.4401A>T (p.Glu1467Asp)
c.7002A>T (p.Glu2334Asp)
c.216A>T (p.Glu72Asp)
n.7114A>T
5g.90692752A=CA1562859317ADGRV1c.7099A= (p.Arg2367=)
c.265+16543A= (n.265+16543A=)
n.2558A=
c.906A=
n.243A=
c.4390A= (p.Arg1464=)
c.1828A=
n.7112A=
c.7096A= (p.Arg2366=)
c.7018A= (p.Arg2340=)
c.4402A= (p.Arg1468=)
c.7003A= (p.Arg2335=)
c.217A= (p.Arg73=)
n.7115A=
5g.90692752A>CCA445404578ADGRV1c.7099A>C (p.Arg2367=)
c.265+16543A>C (n.265+16543A>C)
n.2558A>C
c.906A>C
n.243A>C
c.4390A>C (p.Arg1464=)
c.1828A>C
n.7112A>C
c.7096A>C (p.Arg2366=)
c.7018A>C (p.Arg2340=)
c.4402A>C (p.Arg1468=)
c.7003A>C (p.Arg2335=)
c.217A>C (p.Arg73=)
n.7115A>C
5g.90692752A>GCA360371810ADGRV1c.7099A>G (p.Arg2367Gly)
c.265+16543A>G (n.265+16543A>G)
n.2558A>G
c.906A>G
n.243A>G
c.4390A>G (p.Arg1464Gly)
c.1828A>G
n.7112A>G
c.7096A>G (p.Arg2366Gly)
c.7018A>G (p.Arg2340Gly)
c.4402A>G (p.Arg1468Gly)
c.7003A>G (p.Arg2335Gly)
c.217A>G (p.Arg73Gly)
n.7115A>G
 dbSNP gnomAD v4
5g.90692752A>TCA360371811ADGRV1c.7099A>T (p.Arg2367Ter)
c.265+16543A>T (n.265+16543A>T)
n.2558A>T
c.906A>T
n.243A>T
c.4390A>T (p.Arg1464Ter)
c.1828A>T
n.7112A>T
c.7096A>T (p.Arg2366Ter)
c.7018A>T (p.Arg2340Ter)
c.4402A>T (p.Arg1468Ter)
c.7003A>T (p.Arg2335Ter)
c.217A>T (p.Arg73Ter)
n.7115A>T
 gnomAD v4
5g.90692753G>ACA360371813ADGRV1c.7100G>A (p.Arg2367Lys)
c.265+16544G>A (n.265+16544G>A)
n.2559G>A
c.907G>A
n.244G>A
c.4391G>A (p.Arg1464Lys)
c.1829G>A
n.7113G>A
c.7097G>A (p.Arg2366Lys)
c.7019G>A (p.Arg2340Lys)
c.4403G>A (p.Arg1468Lys)
c.7004G>A (p.Arg2335Lys)
c.218G>A (p.Arg73Lys)
n.7116G>A
 dbSNP gnomAD v3 gnomAD v4
5g.90692753G>CCA360371817ADGRV1c.7100G>C (p.Arg2367Thr)
c.265+16544G>C (n.265+16544G>C)
n.2559G>C
c.907G>C
n.244G>C
c.4391G>C (p.Arg1464Thr)
c.1829G>C
n.7113G>C
c.7097G>C (p.Arg2366Thr)
c.7019G>C (p.Arg2340Thr)
c.4403G>C (p.Arg1468Thr)
c.7004G>C (p.Arg2335Thr)
c.218G>C (p.Arg73Thr)
n.7116G>C
5g.90692753G=CA1562859318ADGRV1c.7100G= (p.Arg2367=)
c.265+16544G= (n.265+16544G=)
n.2559G=
c.907G=
n.244G=
c.4391G= (p.Arg1464=)
c.1829G=
n.7113G=
c.7097G= (p.Arg2366=)
c.7019G= (p.Arg2340=)
c.4403G= (p.Arg1468=)
c.7004G= (p.Arg2335=)
c.218G= (p.Arg73=)
n.7116G=
5g.90692753G>TCA360371820ADGRV1c.7100G>T (p.Arg2367Ile)
c.265+16544G>T (n.265+16544G>T)
n.2559G>T
c.907G>T
n.244G>T
c.4391G>T (p.Arg1464Ile)
c.1829G>T
n.7113G>T
c.7097G>T (p.Arg2366Ile)
c.7019G>T (p.Arg2340Ile)
c.4403G>T (p.Arg1468Ile)
c.7004G>T (p.Arg2335Ile)
c.218G>T (p.Arg73Ile)
n.7116G>T
5g.90692754A>CCA360371839ADGRV1c.7101A>C (p.Arg2367Ser)
c.265+16545A>C (n.265+16545A>C)
n.2560A>C
c.908A>C
n.245A>C
c.4392A>C (p.Arg1464Ser)
c.1830A>C
n.7114A>C
c.7098A>C (p.Arg2366Ser)
c.7020A>C (p.Arg2340Ser)
c.4404A>C (p.Arg1468Ser)
c.7005A>C (p.Arg2335Ser)
c.219A>C (p.Arg73Ser)
n.7117A>C
5g.90692754A>GCA445404579ADGRV1c.7101A>G (p.Arg2367=)
c.265+16545A>G (n.265+16545A>G)
n.2560A>G
c.908A>G
n.245A>G
c.4392A>G (p.Arg1464=)
c.1830A>G
n.7114A>G
c.7098A>G (p.Arg2366=)
c.7020A>G (p.Arg2340=)
c.4404A>G (p.Arg1468=)
c.7005A>G (p.Arg2335=)
c.219A>G (p.Arg73=)
n.7117A>G
5g.90692754A>TCA360371848ADGRV1c.7101A>T (p.Arg2367Ser)
c.265+16545A>T (n.265+16545A>T)
n.2560A>T
c.908A>T
n.245A>T
c.4392A>T (p.Arg1464Ser)
c.1830A>T
n.7114A>T
c.7098A>T (p.Arg2366Ser)
c.7020A>T (p.Arg2340Ser)
c.4404A>T (p.Arg1468Ser)
c.7005A>T (p.Arg2335Ser)
c.219A>T (p.Arg73Ser)
n.7117A>T

Number of alleles fetched