Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90692609T>ACA360370542ADGRV1c.6956T>A (p.Ile2319Asn)
c.265+16400T>A (n.265+16400T>A)
n.2415T>A
c.763T>A
n.100T>A
c.4247T>A (p.Ile1416Asn)
c.1685T>A
n.6969T>A
c.6953T>A (p.Ile2318Asn)
c.6875T>A (p.Ile2292Asn)
c.4259T>A (p.Ile1420Asn)
c.6860T>A (p.Ile2287Asn)
c.74T>A (p.Ile25Asn)
n.6972T>A
5g.90692609T>CCA360370545ADGRV1c.6956T>C (p.Ile2319Thr)
c.265+16400T>C (n.265+16400T>C)
n.2415T>C
c.763T>C
n.100T>C
c.4247T>C (p.Ile1416Thr)
c.1685T>C
n.6969T>C
c.6953T>C (p.Ile2318Thr)
c.6875T>C (p.Ile2292Thr)
c.4259T>C (p.Ile1420Thr)
c.6860T>C (p.Ile2287Thr)
c.74T>C (p.Ile25Thr)
n.6972T>C
5g.90692609T>GCA360370546ADGRV1c.6956T>G (p.Ile2319Ser)
c.265+16400T>G (n.265+16400T>G)
n.2415T>G
c.763T>G
n.100T>G
c.4247T>G (p.Ile1416Ser)
c.1685T>G
n.6969T>G
c.6953T>G (p.Ile2318Ser)
c.6875T>G (p.Ile2292Ser)
c.4259T>G (p.Ile1420Ser)
c.6860T>G (p.Ile2287Ser)
c.74T>G (p.Ile25Ser)
n.6972T>G
5g.90692610C>ACA445404453ADGRV1c.6957C>A (p.Ile2319=)
c.265+16401C>A (n.265+16401C>A)
n.2416C>A
c.764C>A
n.101C>A
c.4248C>A (p.Ile1416=)
c.1686C>A
n.6970C>A
c.6954C>A (p.Ile2318=)
c.6876C>A (p.Ile2292=)
c.4260C>A (p.Ile1420=)
c.6861C>A (p.Ile2287=)
c.75C>A (p.Ile25=)
n.6973C>A
5g.90692610C=CA1562859245ADGRV1c.6957C= (p.Ile2319=)
c.265+16401C= (n.265+16401C=)
n.2416C=
c.764C=
n.101C=
c.4248C= (p.Ile1416=)
c.1686C=
n.6970C=
c.6954C= (p.Ile2318=)
c.6876C= (p.Ile2292=)
c.4260C= (p.Ile1420=)
c.6861C= (p.Ile2287=)
c.75C= (p.Ile25=)
n.6973C=
5g.90692610C>GCA360370551ADGRV1c.6957C>G (p.Ile2319Met)
c.265+16401C>G (n.265+16401C>G)
n.2416C>G
c.764C>G
n.101C>G
c.4248C>G (p.Ile1416Met)
c.1686C>G
n.6970C>G
c.6954C>G (p.Ile2318Met)
c.6876C>G (p.Ile2292Met)
c.4260C>G (p.Ile1420Met)
c.6861C>G (p.Ile2287Met)
c.75C>G (p.Ile25Met)
n.6973C>G
 ClinVar dbSNP
5g.90692610C>TCA445404454ADGRV1c.6957C>T (p.Ile2319=)
c.265+16401C>T (n.265+16401C>T)
n.2416C>T
c.764C>T
n.101C>T
c.4248C>T (p.Ile1416=)
c.1686C>T
n.6970C>T
c.6954C>T (p.Ile2318=)
c.6876C>T (p.Ile2292=)
c.4260C>T (p.Ile1420=)
c.6861C>T (p.Ile2287=)
c.75C>T (p.Ile25=)
n.6973C>T
 dbSNP gnomAD v3 gnomAD v4
5g.90692611C>ACA360370554ADGRV1c.6958C>A (p.Gln2320Lys)
c.265+16402C>A (n.265+16402C>A)
n.2417C>A
c.765C>A
n.102C>A
c.4249C>A (p.Gln1417Lys)
c.1687C>A
n.6971C>A
c.6955C>A (p.Gln2319Lys)
c.6877C>A (p.Gln2293Lys)
c.4261C>A (p.Gln1421Lys)
c.6862C>A (p.Gln2288Lys)
c.76C>A (p.Gln26Lys)
n.6974C>A
 gnomAD v4
5g.90692611C>GCA360370555ADGRV1c.6958C>G (p.Gln2320Glu)
c.265+16402C>G (n.265+16402C>G)
n.2417C>G
c.765C>G
n.102C>G
c.4249C>G (p.Gln1417Glu)
c.1687C>G
n.6971C>G
c.6955C>G (p.Gln2319Glu)
c.6877C>G (p.Gln2293Glu)
c.4261C>G (p.Gln1421Glu)
c.6862C>G (p.Gln2288Glu)
c.76C>G (p.Gln26Glu)
n.6974C>G
5g.90692611C>TCA360370557ADGRV1c.6958C>T (p.Gln2320Ter)
c.265+16402C>T (n.265+16402C>T)
n.2417C>T
c.765C>T
n.102C>T
c.4249C>T (p.Gln1417Ter)
c.1687C>T
n.6971C>T
c.6955C>T (p.Gln2319Ter)
c.6877C>T (p.Gln2293Ter)
c.4261C>T (p.Gln1421Ter)
c.6862C>T (p.Gln2288Ter)
c.76C>T (p.Gln26Ter)
n.6974C>T
 gnomAD v4
5g.90692612A=CA1562859246ADGRV1c.6959A= (p.Gln2320=)
c.265+16403A= (n.265+16403A=)
n.2418A=
c.766A=
n.103A=
c.4250A= (p.Gln1417=)
c.1688A=
n.6972A=
c.6956A= (p.Gln2319=)
c.6878A= (p.Gln2293=)
c.4262A= (p.Gln1421=)
c.6863A= (p.Gln2288=)
c.77A= (p.Gln26=)
n.6975A=
5g.90692612A>CCA360370567ADGRV1c.6959A>C (p.Gln2320Pro)
c.265+16403A>C (n.265+16403A>C)
n.2418A>C
c.766A>C
n.103A>C
c.4250A>C (p.Gln1417Pro)
c.1688A>C
n.6972A>C
c.6956A>C (p.Gln2319Pro)
c.6878A>C (p.Gln2293Pro)
c.4262A>C (p.Gln1421Pro)
c.6863A>C (p.Gln2288Pro)
c.77A>C (p.Gln26Pro)
n.6975A>C
5g.90692612A>GCA3339939ADGRV1c.6959A>G (p.Gln2320Arg)
c.265+16403A>G (n.265+16403A>G)
n.2418A>G
c.766A>G
n.103A>G
c.4250A>G (p.Gln1417Arg)
c.1688A>G
n.6972A>G
c.6956A>G (p.Gln2319Arg)
c.6878A>G (p.Gln2293Arg)
c.4262A>G (p.Gln1421Arg)
c.6863A>G (p.Gln2288Arg)
c.77A>G (p.Gln26Arg)
n.6975A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692612A>TCA360370570ADGRV1c.6959A>T (p.Gln2320Leu)
c.265+16403A>T (n.265+16403A>T)
n.2418A>T
c.766A>T
n.103A>T
c.4250A>T (p.Gln1417Leu)
c.1688A>T
n.6972A>T
c.6956A>T (p.Gln2319Leu)
c.6878A>T (p.Gln2293Leu)
c.4262A>T (p.Gln1421Leu)
c.6863A>T (p.Gln2288Leu)
c.77A>T (p.Gln26Leu)
n.6975A>T
5g.90692613A=CA1562859248ADGRV1c.6960A= (p.Gln2320=)
c.265+16404A= (n.265+16404A=)
n.2419A=
c.767A=
n.104A=
c.4251A= (p.Gln1417=)
c.1689A=
n.6973A=
c.6957A= (p.Gln2319=)
c.6879A= (p.Gln2293=)
c.4263A= (p.Gln1421=)
c.6864A= (p.Gln2288=)
c.78A= (p.Gln26=)
n.6976A=
5g.90692613A>CCA360370575ADGRV1c.6960A>C (p.Gln2320His)
c.265+16404A>C (n.265+16404A>C)
n.2419A>C
c.767A>C
n.104A>C
c.4251A>C (p.Gln1417His)
c.1689A>C
n.6973A>C
c.6957A>C (p.Gln2319His)
c.6879A>C (p.Gln2293His)
c.4263A>C (p.Gln1421His)
c.6864A>C (p.Gln2288His)
c.78A>C (p.Gln26His)
n.6976A>C
 dbSNP gnomAD v4
5g.90692613A>GCA445404455ADGRV1c.6960A>G (p.Gln2320=)
c.265+16404A>G (n.265+16404A>G)
n.2419A>G
c.767A>G
n.104A>G
c.4251A>G (p.Gln1417=)
c.1689A>G
n.6973A>G
c.6957A>G (p.Gln2319=)
c.6879A>G (p.Gln2293=)
c.4263A>G (p.Gln1421=)
c.6864A>G (p.Gln2288=)
c.78A>G (p.Gln26=)
n.6976A>G
 gnomAD v4
5g.90692613A>TCA360370576ADGRV1c.6960A>T (p.Gln2320His)
c.265+16404A>T (n.265+16404A>T)
n.2419A>T
c.767A>T
n.104A>T
c.4251A>T (p.Gln1417His)
c.1689A>T
n.6973A>T
c.6957A>T (p.Gln2319His)
c.6879A>T (p.Gln2293His)
c.4263A>T (p.Gln1421His)
c.6864A>T (p.Gln2288His)
c.78A>T (p.Gln26His)
n.6976A>T
5g.90692613_90692615delinsAGTCA1562859247ADGRV1c.6960_6962delinsAGT (p.Gln2320=)
c.265+16404_265+16406delinsAGT (n.265+16404_265+16406delinsAGT)
n.2419_2421delinsAGT
c.767_769delinsAGT
n.104_106delinsAGT
c.4251_4253delinsAGT (p.Gln1417=)
c.1689_1691delinsAGT
n.6973_6975delinsAGT
c.6957_6959delinsAGT (p.Gln2319=)
c.6879_6881delinsAGT (p.Gln2293=)
c.4263_4265delinsAGT (p.Gln1421=)
c.6864_6866delinsAGT (p.Gln2288=)
c.78_80delinsAGT (p.Gln26=)
n.6976_6978delinsAGT
5g.90692614G>ACA3339940ADGRV1c.6961G>A (p.Val2321Met)
c.265+16405G>A (n.265+16405G>A)
n.2420G>A
c.768G>A
n.105G>A
c.4252G>A (p.Val1418Met)
c.1690G>A
n.6974G>A
c.6958G>A (p.Val2320Met)
c.6880G>A (p.Val2294Met)
c.4264G>A (p.Val1422Met)
c.6865G>A (p.Val2289Met)
c.79G>A (p.Val27Met)
n.6977G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692614G>CCA360370581ADGRV1c.6961G>C (p.Val2321Leu)
c.265+16405G>C (n.265+16405G>C)
n.2420G>C
c.768G>C
n.105G>C
c.4252G>C (p.Val1418Leu)
c.1690G>C
n.6974G>C
c.6958G>C (p.Val2320Leu)
c.6880G>C (p.Val2294Leu)
c.4264G>C (p.Val1422Leu)
c.6865G>C (p.Val2289Leu)
c.79G>C (p.Val27Leu)
n.6977G>C
5g.90692614G=CA1562859249ADGRV1c.6961G= (p.Val2321=)
c.265+16405G= (n.265+16405G=)
n.2420G=
c.768G=
n.105G=
c.4252G= (p.Val1418=)
c.1690G=
n.6974G=
c.6958G= (p.Val2320=)
c.6880G= (p.Val2294=)
c.4264G= (p.Val1422=)
c.6865G= (p.Val2289=)
c.79G= (p.Val27=)
n.6977G=
5g.90692614G>TCA360370584ADGRV1c.6961G>T (p.Val2321Leu)
c.265+16405G>T (n.265+16405G>T)
n.2420G>T
c.768G>T
n.105G>T
c.4252G>T (p.Val1418Leu)
c.1690G>T
n.6974G>T
c.6958G>T (p.Val2320Leu)
c.6880G>T (p.Val2294Leu)
c.4264G>T (p.Val1422Leu)
c.6865G>T (p.Val2289Leu)
c.79G>T (p.Val27Leu)
n.6977G>T
 gnomAD v4
5g.90692615_90692616delCA561259818ADGRV1c.6962_6963del (p.Val2321AlafsTer4)
c.265+16406_265+16407del (n.265+16406_265+16407del)
n.2421_2422del
c.769_770del
n.106_107del
c.4253_4254del (p.Val1418AlafsTer4)
c.1691_1692del
n.6975_6976del
c.6959_6960del (p.Val2320AlafsTer4)
c.6881_6882del (p.Val2294AlafsTer4)
c.4265_4266del (p.Val1422AlafsTer4)
c.6866_6867del (p.Val2289AlafsTer4)
c.80_81del (p.Val27AlafsTer4)
n.6978_6979del
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692615T>ACA360370590ADGRV1c.6962T>A (p.Val2321Glu)
c.265+16406T>A (n.265+16406T>A)
n.2421T>A
c.769T>A
n.106T>A
c.4253T>A (p.Val1418Glu)
c.1691T>A
n.6975T>A
c.6959T>A (p.Val2320Glu)
c.6881T>A (p.Val2294Glu)
c.4265T>A (p.Val1422Glu)
c.6866T>A (p.Val2289Glu)
c.80T>A (p.Val27Glu)
n.6978T>A
5g.90692615T>CCA360370591ADGRV1c.6962T>C (p.Val2321Ala)
c.265+16406T>C (n.265+16406T>C)
n.2421T>C
c.769T>C
n.106T>C
c.4253T>C (p.Val1418Ala)
c.1691T>C
n.6975T>C
c.6959T>C (p.Val2320Ala)
c.6881T>C (p.Val2294Ala)
c.4265T>C (p.Val1422Ala)
c.6866T>C (p.Val2289Ala)
c.80T>C (p.Val27Ala)
n.6978T>C
 COSMIC
5g.90692615T>GCA360370592ADGRV1c.6962T>G (p.Val2321Gly)
c.265+16406T>G (n.265+16406T>G)
n.2421T>G
c.769T>G
n.106T>G
c.4253T>G (p.Val1418Gly)
c.1691T>G
n.6975T>G
c.6959T>G (p.Val2320Gly)
c.6881T>G (p.Val2294Gly)
c.4265T>G (p.Val1422Gly)
c.6866T>G (p.Val2289Gly)
c.80T>G (p.Val27Gly)
n.6978T>G
 dbSNP gnomAD v3 gnomAD v4
5g.90692615T=CA1562859250ADGRV1c.6962T= (p.Val2321=)
c.265+16406T= (n.265+16406T=)
n.2421T=
c.769T=
n.106T=
c.4253T= (p.Val1418=)
c.1691T=
n.6975T=
c.6959T= (p.Val2320=)
c.6881T= (p.Val2294=)
c.4265T= (p.Val1422=)
c.6866T= (p.Val2289=)
c.80T= (p.Val27=)
n.6978T=
5g.90692616G>ACA445404456ADGRV1c.6963G>A (p.Val2321=)
c.265+16407G>A (n.265+16407G>A)
n.2422G>A
c.770G>A
n.107G>A
c.4254G>A (p.Val1418=)
c.1692G>A
n.6976G>A
c.6960G>A (p.Val2320=)
c.6882G>A (p.Val2294=)
c.4266G>A (p.Val1422=)
c.6867G>A (p.Val2289=)
c.81G>A (p.Val27=)
n.6979G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692616G>CCA445404457ADGRV1c.6963G>C (p.Val2321=)
c.265+16407G>C (n.265+16407G>C)
n.2422G>C
c.770G>C
n.107G>C
c.4254G>C (p.Val1418=)
c.1692G>C
n.6976G>C
c.6960G>C (p.Val2320=)
c.6882G>C (p.Val2294=)
c.4266G>C (p.Val1422=)
c.6867G>C (p.Val2289=)
c.81G>C (p.Val27=)
n.6979G>C
5g.90692616G=CA1562859251ADGRV1c.6963G= (p.Val2321=)
c.265+16407G= (n.265+16407G=)
n.2422G=
c.770G=
n.107G=
c.4254G= (p.Val1418=)
c.1692G=
n.6976G=
c.6960G= (p.Val2320=)
c.6882G= (p.Val2294=)
c.4266G= (p.Val1422=)
c.6867G= (p.Val2289=)
c.81G= (p.Val27=)
n.6979G=
5g.90692616G>TCA445404458ADGRV1c.6963G>T (p.Val2321=)
c.265+16407G>T (n.265+16407G>T)
n.2422G>T
c.770G>T
n.107G>T
c.4254G>T (p.Val1418=)
c.1692G>T
n.6976G>T
c.6960G>T (p.Val2320=)
c.6882G>T (p.Val2294=)
c.4266G>T (p.Val1422=)
c.6867G>T (p.Val2289=)
c.81G>T (p.Val27=)
n.6979G>T
5g.90692617C>ACA360370596ADGRV1c.6964C>A (p.Gln2322Lys)
c.265+16408C>A (n.265+16408C>A)
n.2423C>A
c.771C>A
n.108C>A
c.4255C>A (p.Gln1419Lys)
c.1693C>A
n.6977C>A
c.6961C>A (p.Gln2321Lys)
c.6883C>A (p.Gln2295Lys)
c.4267C>A (p.Gln1423Lys)
c.6868C>A (p.Gln2290Lys)
c.82C>A (p.Gln28Lys)
n.6980C>A
 gnomAD v4
5g.90692617C>GCA360370598ADGRV1c.6964C>G (p.Gln2322Glu)
c.265+16408C>G (n.265+16408C>G)
n.2423C>G
c.771C>G
n.108C>G
c.4255C>G (p.Gln1419Glu)
c.1693C>G
n.6977C>G
c.6961C>G (p.Gln2321Glu)
c.6883C>G (p.Gln2295Glu)
c.4267C>G (p.Gln1423Glu)
c.6868C>G (p.Gln2290Glu)
c.82C>G (p.Gln28Glu)
n.6980C>G
5g.90692617C>TCA360370603ADGRV1c.6964C>T (p.Gln2322Ter)
c.265+16408C>T (n.265+16408C>T)
n.2423C>T
c.771C>T
n.108C>T
c.4255C>T (p.Gln1419Ter)
c.1693C>T
n.6977C>T
c.6961C>T (p.Gln2321Ter)
c.6883C>T (p.Gln2295Ter)
c.4267C>T (p.Gln1423Ter)
c.6868C>T (p.Gln2290Ter)
c.82C>T (p.Gln28Ter)
n.6980C>T
5g.90692618A>CCA360370612ADGRV1c.6965A>C (p.Gln2322Pro)
c.265+16409A>C (n.265+16409A>C)
n.2424A>C
c.772A>C
n.109A>C
c.4256A>C (p.Gln1419Pro)
c.1694A>C
n.6978A>C
c.6962A>C (p.Gln2321Pro)
c.6884A>C (p.Gln2295Pro)
c.4268A>C (p.Gln1423Pro)
c.6869A>C (p.Gln2290Pro)
c.83A>C (p.Gln28Pro)
n.6981A>C
5g.90692618A>GCA360370616ADGRV1c.6965A>G (p.Gln2322Arg)
c.265+16409A>G (n.265+16409A>G)
n.2424A>G
c.772A>G
n.109A>G
c.4256A>G (p.Gln1419Arg)
c.1694A>G
n.6978A>G
c.6962A>G (p.Gln2321Arg)
c.6884A>G (p.Gln2295Arg)
c.4268A>G (p.Gln1423Arg)
c.6869A>G (p.Gln2290Arg)
c.83A>G (p.Gln28Arg)
n.6981A>G
5g.90692618A>TCA360370609ADGRV1c.6965A>T (p.Gln2322Leu)
c.265+16409A>T (n.265+16409A>T)
n.2424A>T
c.772A>T
n.109A>T
c.4256A>T (p.Gln1419Leu)
c.1694A>T
n.6978A>T
c.6962A>T (p.Gln2321Leu)
c.6884A>T (p.Gln2295Leu)
c.4268A>T (p.Gln1423Leu)
c.6869A>T (p.Gln2290Leu)
c.83A>T (p.Gln28Leu)
n.6981A>T
5g.90692619A>CCA360370628ADGRV1c.6966A>C (p.Gln2322His)
c.265+16410A>C (n.265+16410A>C)
n.2425A>C
c.773A>C
n.110A>C
c.4257A>C (p.Gln1419His)
c.1695A>C
n.6979A>C
c.6963A>C (p.Gln2321His)
c.6885A>C (p.Gln2295His)
c.4269A>C (p.Gln1423His)
c.6870A>C (p.Gln2290His)
c.84A>C (p.Gln28His)
n.6982A>C
5g.90692619A>GCA445404460ADGRV1c.6966A>G (p.Gln2322=)
c.265+16410A>G (n.265+16410A>G)
n.2425A>G
c.773A>G
n.110A>G
c.4257A>G (p.Gln1419=)
c.1695A>G
n.6979A>G
c.6963A>G (p.Gln2321=)
c.6885A>G (p.Gln2295=)
c.4269A>G (p.Gln1423=)
c.6870A>G (p.Gln2290=)
c.84A>G (p.Gln28=)
n.6982A>G
 gnomAD v4
5g.90692619A>TCA360370633ADGRV1c.6966A>T (p.Gln2322His)
c.265+16410A>T (n.265+16410A>T)
n.2425A>T
c.773A>T
n.110A>T
c.4257A>T (p.Gln1419His)
c.1695A>T
n.6979A>T
c.6963A>T (p.Gln2321His)
c.6885A>T (p.Gln2295His)
c.4269A>T (p.Gln1423His)
c.6870A>T (p.Gln2290His)
c.84A>T (p.Gln28His)
n.6982A>T
5g.90692620C>ACA360370640ADGRV1c.6967C>A (p.Leu2323Ile)
c.265+16411C>A (n.265+16411C>A)
n.2426C>A
c.774C>A
n.111C>A
c.4258C>A (p.Leu1420Ile)
c.1696C>A
n.6980C>A
c.6964C>A (p.Leu2322Ile)
c.6886C>A (p.Leu2296Ile)
c.4270C>A (p.Leu1424Ile)
c.6871C>A (p.Leu2291Ile)
c.85C>A (p.Leu29Ile)
n.6983C>A
 gnomAD v4
5g.90692620C>GCA360370683ADGRV1c.6967C>G (p.Leu2323Val)
c.265+16411C>G (n.265+16411C>G)
n.2426C>G
c.774C>G
n.111C>G
c.4258C>G (p.Leu1420Val)
c.1696C>G
n.6980C>G
c.6964C>G (p.Leu2322Val)
c.6886C>G (p.Leu2296Val)
c.4270C>G (p.Leu1424Val)
c.6871C>G (p.Leu2291Val)
c.85C>G (p.Leu29Val)
n.6983C>G
5g.90692620C>TCA445404461ADGRV1c.6967C>T (p.Leu2323=)
c.265+16411C>T (n.265+16411C>T)
n.2426C>T
c.774C>T
n.111C>T
c.4258C>T (p.Leu1420=)
c.1696C>T
n.6980C>T
c.6964C>T (p.Leu2322=)
c.6886C>T (p.Leu2296=)
c.4270C>T (p.Leu1424=)
c.6871C>T (p.Leu2291=)
c.85C>T (p.Leu29=)
n.6983C>T
5g.90692621T>ACA360370687ADGRV1c.6968T>A (p.Leu2323Gln)
c.265+16412T>A (n.265+16412T>A)
n.2427T>A
c.775T>A
n.112T>A
c.4259T>A (p.Leu1420Gln)
c.1697T>A
n.6981T>A
c.6965T>A (p.Leu2322Gln)
c.6887T>A (p.Leu2296Gln)
c.4271T>A (p.Leu1424Gln)
c.6872T>A (p.Leu2291Gln)
c.86T>A (p.Leu29Gln)
n.6984T>A
5g.90692621T>CCA360370696ADGRV1c.6968T>C (p.Leu2323Pro)
c.265+16412T>C (n.265+16412T>C)
n.2427T>C
c.775T>C
n.112T>C
c.4259T>C (p.Leu1420Pro)
c.1697T>C
n.6981T>C
c.6965T>C (p.Leu2322Pro)
c.6887T>C (p.Leu2296Pro)
c.4271T>C (p.Leu1424Pro)
c.6872T>C (p.Leu2291Pro)
c.86T>C (p.Leu29Pro)
n.6984T>C
5g.90692621T>GCA360370709ADGRV1c.6968T>G (p.Leu2323Arg)
c.265+16412T>G (n.265+16412T>G)
n.2427T>G
c.775T>G
n.112T>G
c.4259T>G (p.Leu1420Arg)
c.1697T>G
n.6981T>G
c.6965T>G (p.Leu2322Arg)
c.6887T>G (p.Leu2296Arg)
c.4271T>G (p.Leu1424Arg)
c.6872T>G (p.Leu2291Arg)
c.86T>G (p.Leu29Arg)
n.6984T>G
5g.90692622A>CCA445404462ADGRV1c.6969A>C (p.Leu2323=)
c.265+16413A>C (n.265+16413A>C)
n.2428A>C
c.776A>C
n.113A>C
c.4260A>C (p.Leu1420=)
c.1698A>C
n.6982A>C
c.6966A>C (p.Leu2322=)
c.6888A>C (p.Leu2296=)
c.4272A>C (p.Leu1424=)
c.6873A>C (p.Leu2291=)
c.87A>C (p.Leu29=)
n.6985A>C
 gnomAD v4
5g.90692622A>GCA445404464ADGRV1c.6969A>G (p.Leu2323=)
c.265+16413A>G (n.265+16413A>G)
n.2428A>G
c.776A>G
n.113A>G
c.4260A>G (p.Leu1420=)
c.1698A>G
n.6982A>G
c.6966A>G (p.Leu2322=)
c.6888A>G (p.Leu2296=)
c.4272A>G (p.Leu1424=)
c.6873A>G (p.Leu2291=)
c.87A>G (p.Leu29=)
n.6985A>G
5g.90692622A>TCA445404463ADGRV1c.6969A>T (p.Leu2323=)
c.265+16413A>T (n.265+16413A>T)
n.2428A>T
c.776A>T
n.113A>T
c.4260A>T (p.Leu1420=)
c.1698A>T
n.6982A>T
c.6966A>T (p.Leu2322=)
c.6888A>T (p.Leu2296=)
c.4272A>T (p.Leu1424=)
c.6873A>T (p.Leu2291=)
c.87A>T (p.Leu29=)
n.6985A>T
5g.90692623A=CA1562859252ADGRV1c.6970A= (p.Thr2324=)
c.265+16414A= (n.265+16414A=)
n.2429A=
c.777A=
n.114A=
c.4261A= (p.Thr1421=)
c.1699A=
n.6983A=
c.6967A= (p.Thr2323=)
c.6889A= (p.Thr2297=)
c.4273A= (p.Thr1425=)
c.6874A= (p.Thr2292=)
c.88A= (p.Thr30=)
n.6986A=
5g.90692623A>CCA360370714ADGRV1c.6970A>C (p.Thr2324Pro)
c.265+16414A>C (n.265+16414A>C)
n.2429A>C
c.777A>C
n.114A>C
c.4261A>C (p.Thr1421Pro)
c.1699A>C
n.6983A>C
c.6967A>C (p.Thr2323Pro)
c.6889A>C (p.Thr2297Pro)
c.4273A>C (p.Thr1425Pro)
c.6874A>C (p.Thr2292Pro)
c.88A>C (p.Thr30Pro)
n.6986A>C
5g.90692623A>GCA360370716ADGRV1c.6970A>G (p.Thr2324Ala)
c.265+16414A>G (n.265+16414A>G)
n.2429A>G
c.777A>G
n.114A>G
c.4261A>G (p.Thr1421Ala)
c.1699A>G
n.6983A>G
c.6967A>G (p.Thr2323Ala)
c.6889A>G (p.Thr2297Ala)
c.4273A>G (p.Thr1425Ala)
c.6874A>G (p.Thr2292Ala)
c.88A>G (p.Thr30Ala)
n.6986A>G
5g.90692623A>TCA3339941ADGRV1c.6970A>T (p.Thr2324Ser)
c.265+16414A>T (n.265+16414A>T)
n.2429A>T
c.777A>T
n.114A>T
c.4261A>T (p.Thr1421Ser)
c.1699A>T
n.6983A>T
c.6967A>T (p.Thr2323Ser)
c.6889A>T (p.Thr2297Ser)
c.4273A>T (p.Thr1425Ser)
c.6874A>T (p.Thr2292Ser)
c.88A>T (p.Thr30Ser)
n.6986A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692624C>ACA360370732ADGRV1c.6971C>A (p.Thr2324Asn)
c.265+16415C>A (n.265+16415C>A)
n.2430C>A
c.778C>A
n.115C>A
c.4262C>A (p.Thr1421Asn)
c.1700C>A
n.6984C>A
c.6968C>A (p.Thr2323Asn)
c.6890C>A (p.Thr2297Asn)
c.4274C>A (p.Thr1425Asn)
c.6875C>A (p.Thr2292Asn)
c.89C>A (p.Thr30Asn)
n.6987C>A
 gnomAD v4
5g.90692624C>GCA360370730ADGRV1c.6971C>G (p.Thr2324Ser)
c.265+16415C>G (n.265+16415C>G)
n.2430C>G
c.778C>G
n.115C>G
c.4262C>G (p.Thr1421Ser)
c.1700C>G
n.6984C>G
c.6968C>G (p.Thr2323Ser)
c.6890C>G (p.Thr2297Ser)
c.4274C>G (p.Thr1425Ser)
c.6875C>G (p.Thr2292Ser)
c.89C>G (p.Thr30Ser)
n.6987C>G
5g.90692624C>TCA360370725ADGRV1c.6971C>T (p.Thr2324Ile)
c.265+16415C>T (n.265+16415C>T)
n.2430C>T
c.778C>T
n.115C>T
c.4262C>T (p.Thr1421Ile)
c.1700C>T
n.6984C>T
c.6968C>T (p.Thr2323Ile)
c.6890C>T (p.Thr2297Ile)
c.4274C>T (p.Thr1425Ile)
c.6875C>T (p.Thr2292Ile)
c.89C>T (p.Thr30Ile)
n.6987C>T
5g.90692625T>ACA445404465ADGRV1c.6972T>A (p.Thr2324=)
c.265+16416T>A (n.265+16416T>A)
n.2431T>A
c.779T>A
n.116T>A
c.4263T>A (p.Thr1421=)
c.1701T>A
n.6985T>A
c.6969T>A (p.Thr2323=)
c.6891T>A (p.Thr2297=)
c.4275T>A (p.Thr1425=)
c.6876T>A (p.Thr2292=)
c.90T>A (p.Thr30=)
n.6988T>A
5g.90692625T>CCA445404466ADGRV1c.6972T>C (p.Thr2324=)
c.265+16416T>C (n.265+16416T>C)
n.2431T>C
c.779T>C
n.116T>C
c.4263T>C (p.Thr1421=)
c.1701T>C
n.6985T>C
c.6969T>C (p.Thr2323=)
c.6891T>C (p.Thr2297=)
c.4275T>C (p.Thr1425=)
c.6876T>C (p.Thr2292=)
c.90T>C (p.Thr30=)
n.6988T>C
5g.90692625T>GCA445404467ADGRV1c.6972T>G (p.Thr2324=)
c.265+16416T>G (n.265+16416T>G)
n.2431T>G
c.779T>G
n.116T>G
c.4263T>G (p.Thr1421=)
c.1701T>G
n.6985T>G
c.6969T>G (p.Thr2323=)
c.6891T>G (p.Thr2297=)
c.4275T>G (p.Thr1425=)
c.6876T>G (p.Thr2292=)
c.90T>G (p.Thr30=)
n.6988T>G
5g.90692626G>ACA360370734ADGRV1c.6973G>A (p.Asp2325Asn)
c.265+16417G>A (n.265+16417G>A)
n.2432G>A
c.780G>A
n.117G>A
c.4264G>A (p.Asp1422Asn)
c.1702G>A
n.6986G>A
c.6970G>A (p.Asp2324Asn)
c.6892G>A (p.Asp2298Asn)
c.4276G>A (p.Asp1426Asn)
c.6877G>A (p.Asp2293Asn)
c.91G>A (p.Asp31Asn)
n.6989G>A
 gnomAD v4
5g.90692626G>CCA360370735ADGRV1c.6973G>C (p.Asp2325His)
c.265+16417G>C (n.265+16417G>C)
n.2432G>C
c.780G>C
n.117G>C
c.4264G>C (p.Asp1422His)
c.1702G>C
n.6986G>C
c.6970G>C (p.Asp2324His)
c.6892G>C (p.Asp2298His)
c.4276G>C (p.Asp1426His)
c.6877G>C (p.Asp2293His)
c.91G>C (p.Asp31His)
n.6989G>C
5g.90692626G>TCA360370740ADGRV1c.6973G>T (p.Asp2325Tyr)
c.265+16417G>T (n.265+16417G>T)
n.2432G>T
c.780G>T
n.117G>T
c.4264G>T (p.Asp1422Tyr)
c.1702G>T
n.6986G>T
c.6970G>T (p.Asp2324Tyr)
c.6892G>T (p.Asp2298Tyr)
c.4276G>T (p.Asp1426Tyr)
c.6877G>T (p.Asp2293Tyr)
c.91G>T (p.Asp31Tyr)
n.6989G>T
5g.90692627A=CA1562859253ADGRV1c.6974A= (p.Asp2325=)
c.265+16418A= (n.265+16418A=)
n.2433A=
c.781A=
n.118A=
c.4265A= (p.Asp1422=)
c.1703A=
n.6987A=
c.6971A= (p.Asp2324=)
c.6893A= (p.Asp2298=)
c.4277A= (p.Asp1426=)
c.6878A= (p.Asp2293=)
c.92A= (p.Asp31=)
n.6990A=
5g.90692627A>CCA360370743ADGRV1c.6974A>C (p.Asp2325Ala)
c.265+16418A>C (n.265+16418A>C)
n.2433A>C
c.781A>C
n.118A>C
c.4265A>C (p.Asp1422Ala)
c.1703A>C
n.6987A>C
c.6971A>C (p.Asp2324Ala)
c.6893A>C (p.Asp2298Ala)
c.4277A>C (p.Asp1426Ala)
c.6878A>C (p.Asp2293Ala)
c.92A>C (p.Asp31Ala)
n.6990A>C
5g.90692627A>GCA360370745ADGRV1c.6974A>G (p.Asp2325Gly)
c.265+16418A>G (n.265+16418A>G)
n.2433A>G
c.781A>G
n.118A>G
c.4265A>G (p.Asp1422Gly)
c.1703A>G
n.6987A>G
c.6971A>G (p.Asp2324Gly)
c.6893A>G (p.Asp2298Gly)
c.4277A>G (p.Asp1426Gly)
c.6878A>G (p.Asp2293Gly)
c.92A>G (p.Asp31Gly)
n.6990A>G
 dbSNP
5g.90692627A>TCA3339942ADGRV1c.6974A>T (p.Asp2325Val)
c.265+16418A>T (n.265+16418A>T)
n.2433A>T
c.781A>T
n.118A>T
c.4265A>T (p.Asp1422Val)
c.1703A>T
n.6987A>T
c.6971A>T (p.Asp2324Val)
c.6893A>T (p.Asp2298Val)
c.4277A>T (p.Asp1426Val)
c.6878A>T (p.Asp2293Val)
c.92A>T (p.Asp31Val)
n.6990A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692628T>ACA360370752ADGRV1c.6975T>A (p.Asp2325Glu)
c.265+16419T>A (n.265+16419T>A)
n.2434T>A
c.782T>A
n.119T>A
c.4266T>A (p.Asp1422Glu)
c.1704T>A
n.6988T>A
c.6972T>A (p.Asp2324Glu)
c.6894T>A (p.Asp2298Glu)
c.4278T>A (p.Asp1426Glu)
c.6879T>A (p.Asp2293Glu)
c.93T>A (p.Asp31Glu)
n.6991T>A
 gnomAD v4
5g.90692628T>CCA3339943ADGRV1c.6975T>C (p.Asp2325=)
c.265+16419T>C (n.265+16419T>C)
n.2434T>C
c.782T>C
n.119T>C
c.4266T>C (p.Asp1422=)
c.1704T>C
n.6988T>C
c.6972T>C (p.Asp2324=)
c.6894T>C (p.Asp2298=)
c.4278T>C (p.Asp1426=)
c.6879T>C (p.Asp2293=)
c.93T>C (p.Asp31=)
n.6991T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692628T>GCA360370756ADGRV1c.6975T>G (p.Asp2325Glu)
c.265+16419T>G (n.265+16419T>G)
n.2434T>G
c.782T>G
n.119T>G
c.4266T>G (p.Asp1422Glu)
c.1704T>G
n.6988T>G
c.6972T>G (p.Asp2324Glu)
c.6894T>G (p.Asp2298Glu)
c.4278T>G (p.Asp1426Glu)
c.6879T>G (p.Asp2293Glu)
c.93T>G (p.Asp31Glu)
n.6991T>G
5g.90692628T=CA1562859254ADGRV1c.6975T= (p.Asp2325=)
c.265+16419T= (n.265+16419T=)
n.2434T=
c.782T=
n.119T=
c.4266T= (p.Asp1422=)
c.1704T=
n.6988T=
c.6972T= (p.Asp2324=)
c.6894T= (p.Asp2298=)
c.4278T= (p.Asp1426=)
c.6879T= (p.Asp2293=)
c.93T= (p.Asp31=)
n.6991T=
5g.90692629G>ACA360370770ADGRV1c.6976G>A (p.Ala2326Thr)
c.265+16420G>A (n.265+16420G>A)
n.2435G>A
c.783G>A
n.120G>A
c.4267G>A (p.Ala1423Thr)
c.1705G>A
n.6989G>A
c.6973G>A (p.Ala2325Thr)
c.6895G>A (p.Ala2299Thr)
c.4279G>A (p.Ala1427Thr)
c.6880G>A (p.Ala2294Thr)
c.94G>A (p.Ala32Thr)
n.6992G>A
5g.90692629G>CCA360370776ADGRV1c.6976G>C (p.Ala2326Pro)
c.265+16420G>C (n.265+16420G>C)
n.2435G>C
c.783G>C
n.120G>C
c.4267G>C (p.Ala1423Pro)
c.1705G>C
n.6989G>C
c.6973G>C (p.Ala2325Pro)
c.6895G>C (p.Ala2299Pro)
c.4279G>C (p.Ala1427Pro)
c.6880G>C (p.Ala2294Pro)
c.94G>C (p.Ala32Pro)
n.6992G>C
5g.90692629G>TCA360370782ADGRV1c.6976G>T (p.Ala2326Ser)
c.265+16420G>T (n.265+16420G>T)
n.2435G>T
c.783G>T
n.120G>T
c.4267G>T (p.Ala1423Ser)
c.1705G>T
n.6989G>T
c.6973G>T (p.Ala2325Ser)
c.6895G>T (p.Ala2299Ser)
c.4279G>T (p.Ala1427Ser)
c.6880G>T (p.Ala2294Ser)
c.94G>T (p.Ala32Ser)
n.6992G>T
 gnomAD v4
5g.90692630C>ACA360370787ADGRV1c.6977C>A (p.Ala2326Asp)
c.265+16421C>A (n.265+16421C>A)
n.2436C>A
c.784C>A
n.121C>A
c.4268C>A (p.Ala1423Asp)
c.1706C>A
n.6990C>A
c.6974C>A (p.Ala2325Asp)
c.6896C>A (p.Ala2299Asp)
c.4280C>A (p.Ala1427Asp)
c.6881C>A (p.Ala2294Asp)
c.95C>A (p.Ala32Asp)
n.6993C>A
 gnomAD v4
5g.90692630C>GCA360370795ADGRV1c.6977C>G (p.Ala2326Gly)
c.265+16421C>G (n.265+16421C>G)
n.2436C>G
c.784C>G
n.121C>G
c.4268C>G (p.Ala1423Gly)
c.1706C>G
n.6990C>G
c.6974C>G (p.Ala2325Gly)
c.6896C>G (p.Ala2299Gly)
c.4280C>G (p.Ala1427Gly)
c.6881C>G (p.Ala2294Gly)
c.95C>G (p.Ala32Gly)
n.6993C>G
5g.90692630C>TCA360370798ADGRV1c.6977C>T (p.Ala2326Val)
c.265+16421C>T (n.265+16421C>T)
n.2436C>T
c.784C>T
n.121C>T
c.4268C>T (p.Ala1423Val)
c.1706C>T
n.6990C>T
c.6974C>T (p.Ala2325Val)
c.6896C>T (p.Ala2299Val)
c.4280C>T (p.Ala1427Val)
c.6881C>T (p.Ala2294Val)
c.95C>T (p.Ala32Val)
n.6993C>T
 gnomAD v4
5g.90692631C>ACA445404469ADGRV1c.6978C>A (p.Ala2326=)
c.265+16422C>A (n.265+16422C>A)
n.2437C>A
c.785C>A
n.122C>A
c.4269C>A (p.Ala1423=)
c.1707C>A
n.6991C>A
c.6975C>A (p.Ala2325=)
c.6897C>A (p.Ala2299=)
c.4281C>A (p.Ala1427=)
c.6882C>A (p.Ala2294=)
c.96C>A (p.Ala32=)
n.6994C>A
 gnomAD v4
5g.90692631C>GCA445404470ADGRV1c.6978C>G (p.Ala2326=)
c.265+16422C>G (n.265+16422C>G)
n.2437C>G
c.785C>G
n.122C>G
c.4269C>G (p.Ala1423=)
c.1707C>G
n.6991C>G
c.6975C>G (p.Ala2325=)
c.6897C>G (p.Ala2299=)
c.4281C>G (p.Ala1427=)
c.6882C>G (p.Ala2294=)
c.96C>G (p.Ala32=)
n.6994C>G
5g.90692631C>TCA445404471ADGRV1c.6978C>T (p.Ala2326=)
c.265+16422C>T (n.265+16422C>T)
n.2437C>T
c.785C>T
n.122C>T
c.4269C>T (p.Ala1423=)
c.1707C>T
n.6991C>T
c.6975C>T (p.Ala2325=)
c.6897C>T (p.Ala2299=)
c.4281C>T (p.Ala1427=)
c.6882C>T (p.Ala2294=)
c.96C>T (p.Ala32=)
n.6994C>T
 gnomAD v4
5g.90692632T>ACA360370807ADGRV1c.6979T>A (p.Ser2327Thr)
c.265+16423T>A (n.265+16423T>A)
n.2438T>A
c.786T>A
n.123T>A
c.4270T>A (p.Ser1424Thr)
c.1708T>A
n.6992T>A
c.6976T>A (p.Ser2326Thr)
c.6898T>A (p.Ser2300Thr)
c.4282T>A (p.Ser1428Thr)
c.6883T>A (p.Ser2295Thr)
c.97T>A (p.Ser33Thr)
n.6995T>A
5g.90692632T>CCA360370815ADGRV1c.6979T>C (p.Ser2327Pro)
c.265+16423T>C (n.265+16423T>C)
n.2438T>C
c.786T>C
n.123T>C
c.4270T>C (p.Ser1424Pro)
c.1708T>C
n.6992T>C
c.6976T>C (p.Ser2326Pro)
c.6898T>C (p.Ser2300Pro)
c.4282T>C (p.Ser1428Pro)
c.6883T>C (p.Ser2295Pro)
c.97T>C (p.Ser33Pro)
n.6995T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90692632T>GCA360370820ADGRV1c.6979T>G (p.Ser2327Ala)
c.265+16423T>G (n.265+16423T>G)
n.2438T>G
c.786T>G
n.123T>G
c.4270T>G (p.Ser1424Ala)
c.1708T>G
n.6992T>G
c.6976T>G (p.Ser2326Ala)
c.6898T>G (p.Ser2300Ala)
c.4282T>G (p.Ser1428Ala)
c.6883T>G (p.Ser2295Ala)
c.97T>G (p.Ser33Ala)
n.6995T>G
 gnomAD v4
5g.90692632T=CA1562859255ADGRV1c.6979T= (p.Ser2327=)
c.265+16423T= (n.265+16423T=)
n.2438T=
c.786T=
n.123T=
c.4270T= (p.Ser1424=)
c.1708T=
n.6992T=
c.6976T= (p.Ser2326=)
c.6898T= (p.Ser2300=)
c.4282T= (p.Ser1428=)
c.6883T= (p.Ser2295=)
c.97T= (p.Ser33=)
n.6995T=
5g.90692633C>ACA360370824ADGRV1c.6980C>A (p.Ser2327Tyr)
c.265+16424C>A (n.265+16424C>A)
n.2439C>A
c.787C>A
n.124C>A
c.4271C>A (p.Ser1424Tyr)
c.1709C>A
n.6993C>A
c.6977C>A (p.Ser2326Tyr)
c.6899C>A (p.Ser2300Tyr)
c.4283C>A (p.Ser1428Tyr)
c.6884C>A (p.Ser2295Tyr)
c.98C>A (p.Ser33Tyr)
n.6996C>A
5g.90692633C>GCA360370827ADGRV1c.6980C>G (p.Ser2327Cys)
c.265+16424C>G (n.265+16424C>G)
n.2439C>G
c.787C>G
n.124C>G
c.4271C>G (p.Ser1424Cys)
c.1709C>G
n.6993C>G
c.6977C>G (p.Ser2326Cys)
c.6899C>G (p.Ser2300Cys)
c.4283C>G (p.Ser1428Cys)
c.6884C>G (p.Ser2295Cys)
c.98C>G (p.Ser33Cys)
n.6996C>G
5g.90692633C>TCA360370832ADGRV1c.6980C>T (p.Ser2327Phe)
c.265+16424C>T (n.265+16424C>T)
n.2439C>T
c.787C>T
n.124C>T
c.4271C>T (p.Ser1424Phe)
c.1709C>T
n.6993C>T
c.6977C>T (p.Ser2326Phe)
c.6899C>T (p.Ser2300Phe)
c.4283C>T (p.Ser1428Phe)
c.6884C>T (p.Ser2295Phe)
c.98C>T (p.Ser33Phe)
n.6996C>T
5g.90692633_90692634delinsCTCA1562859256ADGRV1c.6980_6981delinsCT (p.Ser2327=)
c.265+16424_265+16425delinsCT (n.265+16424_265+16425delinsCT)
n.2439_2440delinsCT
c.787_788delinsCT
n.124_125delinsCT
c.4271_4272delinsCT (p.Ser1424=)
c.1709_1710delinsCT
n.6993_6994delinsCT
c.6977_6978delinsCT (p.Ser2326=)
c.6899_6900delinsCT (p.Ser2300=)
c.4283_4284delinsCT (p.Ser1428=)
c.6884_6885delinsCT (p.Ser2295=)
c.98_99delinsCT (p.Ser33=)
n.6996_6997delinsCT
5g.90692634delCA561259819ADGRV1c.6981del (p.Gly2328ValfsTer7)
c.265+16425del (n.265+16425del)
n.2440del
c.788del
n.125del
c.4272del (p.Gly1425ValfsTer7)
c.1710del
n.6994del
c.6978del (p.Gly2327ValfsTer7)
c.6900del (p.Gly2301ValfsTer7)
c.4284del (p.Gly1429ValfsTer7)
c.6885del (p.Gly2296ValfsTer7)
c.99del (p.Gly34ValfsTer7)
n.6997del
 dbSNP gnomAD v2 gnomAD v4
5g.90692634T>ACA445404472ADGRV1c.6981T>A (p.Ser2327=)
c.265+16425T>A (n.265+16425T>A)
n.2440T>A
c.788T>A
n.125T>A
c.4272T>A (p.Ser1424=)
c.1710T>A
n.6994T>A
c.6978T>A (p.Ser2326=)
c.6900T>A (p.Ser2300=)
c.4284T>A (p.Ser1428=)
c.6885T>A (p.Ser2295=)
c.99T>A (p.Ser33=)
n.6997T>A
5g.90692634T>CCA445404474ADGRV1c.6981T>C (p.Ser2327=)
c.265+16425T>C (n.265+16425T>C)
n.2440T>C
c.788T>C
n.125T>C
c.4272T>C (p.Ser1424=)
c.1710T>C
n.6994T>C
c.6978T>C (p.Ser2326=)
c.6900T>C (p.Ser2300=)
c.4284T>C (p.Ser1428=)
c.6885T>C (p.Ser2295=)
c.99T>C (p.Ser33=)
n.6997T>C
 gnomAD v4
5g.90692634T>GCA445404473ADGRV1c.6981T>G (p.Ser2327=)
c.265+16425T>G (n.265+16425T>G)
n.2440T>G
c.788T>G
n.125T>G
c.4272T>G (p.Ser1424=)
c.1710T>G
n.6994T>G
c.6978T>G (p.Ser2326=)
c.6900T>G (p.Ser2300=)
c.4284T>G (p.Ser1428=)
c.6885T>G (p.Ser2295=)
c.99T>G (p.Ser33=)
n.6997T>G
5g.90692635G>ACA360370841ADGRV1c.6982G>A (p.Gly2328Ser)
c.265+16426G>A (n.265+16426G>A)
n.2441G>A
c.789G>A
n.126G>A
c.4273G>A (p.Gly1425Ser)
c.1711G>A
n.6995G>A
c.6979G>A (p.Gly2327Ser)
c.6901G>A (p.Gly2301Ser)
c.4285G>A (p.Gly1429Ser)
c.6886G>A (p.Gly2296Ser)
c.100G>A (p.Gly34Ser)
n.6998G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90692635G>CCA360370835ADGRV1c.6982G>C (p.Gly2328Arg)
c.265+16426G>C (n.265+16426G>C)
n.2441G>C
c.789G>C
n.126G>C
c.4273G>C (p.Gly1425Arg)
c.1711G>C
n.6995G>C
c.6979G>C (p.Gly2327Arg)
c.6901G>C (p.Gly2301Arg)
c.4285G>C (p.Gly1429Arg)
c.6886G>C (p.Gly2296Arg)
c.100G>C (p.Gly34Arg)
n.6998G>C
5g.90692635G=CA1562859257ADGRV1c.6982G= (p.Gly2328=)
c.265+16426G= (n.265+16426G=)
n.2441G=
c.789G=
n.126G=
c.4273G= (p.Gly1425=)
c.1711G=
n.6995G=
c.6979G= (p.Gly2327=)
c.6901G= (p.Gly2301=)
c.4285G= (p.Gly1429=)
c.6886G= (p.Gly2296=)
c.100G= (p.Gly34=)
n.6998G=
5g.90692635G>TCA360370838ADGRV1c.6982G>T (p.Gly2328Cys)
c.265+16426G>T (n.265+16426G>T)
n.2441G>T
c.789G>T
n.126G>T
c.4273G>T (p.Gly1425Cys)
c.1711G>T
n.6995G>T
c.6979G>T (p.Gly2327Cys)
c.6901G>T (p.Gly2301Cys)
c.4285G>T (p.Gly1429Cys)
c.6886G>T (p.Gly2296Cys)
c.100G>T (p.Gly34Cys)
n.6998G>T
 gnomAD v4
5g.90692636G>ACA360370845ADGRV1c.6983G>A (p.Gly2328Asp)
c.265+16427G>A (n.265+16427G>A)
n.2442G>A
c.790G>A
n.127G>A
c.4274G>A (p.Gly1425Asp)
c.1712G>A
n.6996G>A
c.6980G>A (p.Gly2327Asp)
c.6902G>A (p.Gly2301Asp)
c.4286G>A (p.Gly1429Asp)
c.6887G>A (p.Gly2296Asp)
c.101G>A (p.Gly34Asp)
n.6999G>A
 ClinVar
5g.90692636G>CCA360370851ADGRV1c.6983G>C (p.Gly2328Ala)
c.265+16427G>C (n.265+16427G>C)
n.2442G>C
c.790G>C
n.127G>C
c.4274G>C (p.Gly1425Ala)
c.1712G>C
n.6996G>C
c.6980G>C (p.Gly2327Ala)
c.6902G>C (p.Gly2301Ala)
c.4286G>C (p.Gly1429Ala)
c.6887G>C (p.Gly2296Ala)
c.101G>C (p.Gly34Ala)
n.6999G>C
5g.90692636G=CA1562859258ADGRV1c.6983G= (p.Gly2328=)
c.265+16427G= (n.265+16427G=)
n.2442G=
c.790G=
n.127G=
c.4274G= (p.Gly1425=)
c.1712G=
n.6996G=
c.6980G= (p.Gly2327=)
c.6902G= (p.Gly2301=)
c.4286G= (p.Gly1429=)
c.6887G= (p.Gly2296=)
c.101G= (p.Gly34=)
n.6999G=
5g.90692636G>TCA3339944ADGRV1c.6983G>T (p.Gly2328Val)
c.265+16427G>T (n.265+16427G>T)
n.2442G>T
c.790G>T
n.127G>T
c.4274G>T (p.Gly1425Val)
c.1712G>T
n.6996G>T
c.6980G>T (p.Gly2327Val)
c.6902G>T (p.Gly2301Val)
c.4286G>T (p.Gly1429Val)
c.6887G>T (p.Gly2296Val)
c.101G>T (p.Gly34Val)
n.6999G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692637_90692638delCA2695204639ADGRV1c.6984_6985del (p.Gly2329ArgfsTer17)
c.265+16428_265+16429del (n.265+16428_265+16429del)
n.2443_2444del
c.791_792del
n.128_129del
c.4275_4276del (p.Gly1426ArgfsTer17)
c.1713_1714del
n.6997_6998del
c.6981_6982del (p.Gly2328ArgfsTer17)
c.6903_6904del (p.Gly2302ArgfsTer17)
c.4287_4288del (p.Gly1430ArgfsTer17)
c.6888_6889del (p.Gly2297ArgfsTer17)
c.102_103del (p.Gly35ArgfsTer17)
n.7000_7001del
5g.90692637T>ACA445404475ADGRV1c.6984T>A (p.Gly2328=)
c.265+16428T>A (n.265+16428T>A)
n.2443T>A
c.791T>A
n.128T>A
c.4275T>A (p.Gly1425=)
c.1713T>A
n.6997T>A
c.6981T>A (p.Gly2327=)
c.6903T>A (p.Gly2301=)
c.4287T>A (p.Gly1429=)
c.6888T>A (p.Gly2296=)
c.102T>A (p.Gly34=)
n.7000T>A
5g.90692637T>CCA445404476ADGRV1c.6984T>C (p.Gly2328=)
c.265+16428T>C (n.265+16428T>C)
n.2443T>C
c.791T>C
n.128T>C
c.4275T>C (p.Gly1425=)
c.1713T>C
n.6997T>C
c.6981T>C (p.Gly2327=)
c.6903T>C (p.Gly2301=)
c.4287T>C (p.Gly1429=)
c.6888T>C (p.Gly2296=)
c.102T>C (p.Gly34=)
n.7000T>C
 gnomAD v4
5g.90692637T>GCA445404477ADGRV1c.6984T>G (p.Gly2328=)
c.265+16428T>G (n.265+16428T>G)
n.2443T>G
c.791T>G
n.128T>G
c.4275T>G (p.Gly1425=)
c.1713T>G
n.6997T>G
c.6981T>G (p.Gly2327=)
c.6903T>G (p.Gly2301=)
c.4287T>G (p.Gly1429=)
c.6888T>G (p.Gly2296=)
c.102T>G (p.Gly34=)
n.7000T>G
5g.90692638G>ACA360370860ADGRV1c.6985G>A (p.Gly2329Arg)
c.265+16429G>A (n.265+16429G>A)
n.2444G>A
c.792G>A
n.129G>A
c.4276G>A (p.Gly1426Arg)
c.1714G>A
n.6998G>A
c.6982G>A (p.Gly2328Arg)
c.6904G>A (p.Gly2302Arg)
c.4288G>A (p.Gly1430Arg)
c.6889G>A (p.Gly2297Arg)
c.103G>A (p.Gly35Arg)
n.7001G>A
 gnomAD v4
5g.90692638G>CCA360370863ADGRV1c.6985G>C (p.Gly2329Arg)
c.265+16429G>C (n.265+16429G>C)
n.2444G>C
c.792G>C
n.129G>C
c.4276G>C (p.Gly1426Arg)
c.1714G>C
n.6998G>C
c.6982G>C (p.Gly2328Arg)
c.6904G>C (p.Gly2302Arg)
c.4288G>C (p.Gly1430Arg)
c.6889G>C (p.Gly2297Arg)
c.103G>C (p.Gly35Arg)
n.7001G>C
5g.90692638G>TCA360370866ADGRV1c.6985G>T (p.Gly2329Ter)
c.265+16429G>T (n.265+16429G>T)
n.2444G>T
c.792G>T
n.129G>T
c.4276G>T (p.Gly1426Ter)
c.1714G>T
n.6998G>T
c.6982G>T (p.Gly2328Ter)
c.6904G>T (p.Gly2302Ter)
c.4288G>T (p.Gly1430Ter)
c.6889G>T (p.Gly2297Ter)
c.103G>T (p.Gly35Ter)
n.7001G>T
5g.90692639G>ACA360370868ADGRV1c.6986G>A (p.Gly2329Glu)
c.265+16430G>A (n.265+16430G>A)
n.2445G>A
c.793G>A
n.130G>A
c.4277G>A (p.Gly1426Glu)
c.1715G>A
n.6999G>A
c.6983G>A (p.Gly2328Glu)
c.6905G>A (p.Gly2302Glu)
c.4289G>A (p.Gly1430Glu)
c.6890G>A (p.Gly2297Glu)
c.104G>A (p.Gly35Glu)
n.7002G>A
5g.90692639G>CCA360370869ADGRV1c.6986G>C (p.Gly2329Ala)
c.265+16430G>C (n.265+16430G>C)
n.2445G>C
c.793G>C
n.130G>C
c.4277G>C (p.Gly1426Ala)
c.1715G>C
n.6999G>C
c.6983G>C (p.Gly2328Ala)
c.6905G>C (p.Gly2302Ala)
c.4289G>C (p.Gly1430Ala)
c.6890G>C (p.Gly2297Ala)
c.104G>C (p.Gly35Ala)
n.7002G>C
5g.90692639G>TCA360370872ADGRV1c.6986G>T (p.Gly2329Val)
c.265+16430G>T (n.265+16430G>T)
n.2445G>T
c.793G>T
n.130G>T
c.4277G>T (p.Gly1426Val)
c.1715G>T
n.6999G>T
c.6983G>T (p.Gly2328Val)
c.6905G>T (p.Gly2302Val)
c.4289G>T (p.Gly1430Val)
c.6890G>T (p.Gly2297Val)
c.104G>T (p.Gly35Val)
n.7002G>T
5g.90692640A=CA1562859259ADGRV1c.6987A= (p.Gly2329=)
c.265+16431A= (n.265+16431A=)
n.2446A=
c.794A=
n.131A=
c.4278A= (p.Gly1426=)
c.1716A=
n.7000A=
c.6984A= (p.Gly2328=)
c.6906A= (p.Gly2302=)
c.4290A= (p.Gly1430=)
c.6891A= (p.Gly2297=)
c.105A= (p.Gly35=)
n.7003A=
5g.90692640A>CCA445404478ADGRV1c.6987A>C (p.Gly2329=)
c.265+16431A>C (n.265+16431A>C)
n.2446A>C
c.794A>C
n.131A>C
c.4278A>C (p.Gly1426=)
c.1716A>C
n.7000A>C
c.6984A>C (p.Gly2328=)
c.6906A>C (p.Gly2302=)
c.4290A>C (p.Gly1430=)
c.6891A>C (p.Gly2297=)
c.105A>C (p.Gly35=)
n.7003A>C
5g.90692640A>GCA3339945ADGRV1c.6987A>G (p.Gly2329=)
c.265+16431A>G (n.265+16431A>G)
n.2446A>G
c.794A>G
n.131A>G
c.4278A>G (p.Gly1426=)
c.1716A>G
n.7000A>G
c.6984A>G (p.Gly2328=)
c.6906A>G (p.Gly2302=)
c.4290A>G (p.Gly1430=)
c.6891A>G (p.Gly2297=)
c.105A>G (p.Gly35=)
n.7003A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692640A>TCA445404479ADGRV1c.6987A>T (p.Gly2329=)
c.265+16431A>T (n.265+16431A>T)
n.2446A>T
c.794A>T
n.131A>T
c.4278A>T (p.Gly1426=)
c.1716A>T
n.7000A>T
c.6984A>T (p.Gly2328=)
c.6906A>T (p.Gly2302=)
c.4290A>T (p.Gly1430=)
c.6891A>T (p.Gly2297=)
c.105A>T (p.Gly35=)
n.7003A>T
5g.90692641G>ACA360370885ADGRV1c.6988G>A (p.Gly2330Ser)
c.265+16432G>A (n.265+16432G>A)
n.2447G>A
c.795G>A
n.132G>A
c.4279G>A (p.Gly1427Ser)
c.1717G>A
n.7001G>A
c.6985G>A (p.Gly2329Ser)
c.6907G>A (p.Gly2303Ser)
c.4291G>A (p.Gly1431Ser)
c.6892G>A (p.Gly2298Ser)
c.106G>A (p.Gly36Ser)
n.7004G>A
 dbSNP gnomAD v4
5g.90692641G>CCA360370888ADGRV1c.6988G>C (p.Gly2330Arg)
c.265+16432G>C (n.265+16432G>C)
n.2447G>C
c.795G>C
n.132G>C
c.4279G>C (p.Gly1427Arg)
c.1717G>C
n.7001G>C
c.6985G>C (p.Gly2329Arg)
c.6907G>C (p.Gly2303Arg)
c.4291G>C (p.Gly1431Arg)
c.6892G>C (p.Gly2298Arg)
c.106G>C (p.Gly36Arg)
n.7004G>C
5g.90692641G=CA1562859260ADGRV1c.6988G= (p.Gly2330=)
c.265+16432G= (n.265+16432G=)
n.2447G=
c.795G=
n.132G=
c.4279G= (p.Gly1427=)
c.1717G=
n.7001G=
c.6985G= (p.Gly2329=)
c.6907G= (p.Gly2303=)
c.4291G= (p.Gly1431=)
c.6892G= (p.Gly2298=)
c.106G= (p.Gly36=)
n.7004G=
5g.90692641G>TCA360370901ADGRV1c.6988G>T (p.Gly2330Cys)
c.265+16432G>T (n.265+16432G>T)
n.2447G>T
c.795G>T
n.132G>T
c.4279G>T (p.Gly1427Cys)
c.1717G>T
n.7001G>T
c.6985G>T (p.Gly2329Cys)
c.6907G>T (p.Gly2303Cys)
c.4291G>T (p.Gly1431Cys)
c.6892G>T (p.Gly2298Cys)
c.106G>T (p.Gly36Cys)
n.7004G>T
5g.90692642G>ACA3339946ADGRV1c.6989G>A (p.Gly2330Asp)
c.265+16433G>A (n.265+16433G>A)
n.2448G>A
c.796G>A
n.133G>A
c.4280G>A (p.Gly1427Asp)
c.1718G>A
n.7002G>A
c.6986G>A (p.Gly2329Asp)
c.6908G>A (p.Gly2303Asp)
c.4292G>A (p.Gly1431Asp)
c.6893G>A (p.Gly2298Asp)
c.107G>A (p.Gly36Asp)
n.7005G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692642G>CCA360370919ADGRV1c.6989G>C (p.Gly2330Ala)
c.265+16433G>C (n.265+16433G>C)
n.2448G>C
c.796G>C
n.133G>C
c.4280G>C (p.Gly1427Ala)
c.1718G>C
n.7002G>C
c.6986G>C (p.Gly2329Ala)
c.6908G>C (p.Gly2303Ala)
c.4292G>C (p.Gly1431Ala)
c.6893G>C (p.Gly2298Ala)
c.107G>C (p.Gly36Ala)
n.7005G>C
5g.90692642G=CA1562859261ADGRV1c.6989G= (p.Gly2330=)
c.265+16433G= (n.265+16433G=)
n.2448G=
c.796G=
n.133G=
c.4280G= (p.Gly1427=)
c.1718G=
n.7002G=
c.6986G= (p.Gly2329=)
c.6908G= (p.Gly2303=)
c.4292G= (p.Gly1431=)
c.6893G= (p.Gly2298=)
c.107G= (p.Gly36=)
n.7005G=
5g.90692642G>TCA360370916ADGRV1c.6989G>T (p.Gly2330Val)
c.265+16433G>T (n.265+16433G>T)
n.2448G>T
c.796G>T
n.133G>T
c.4280G>T (p.Gly1427Val)
c.1718G>T
n.7002G>T
c.6986G>T (p.Gly2329Val)
c.6908G>T (p.Gly2303Val)
c.4292G>T (p.Gly1431Val)
c.6893G>T (p.Gly2298Val)
c.107G>T (p.Gly36Val)
n.7005G>T
 gnomAD v4
5g.90692643T>ACA445404482ADGRV1c.6990T>A (p.Gly2330=)
c.265+16434T>A (n.265+16434T>A)
n.2449T>A
c.797T>A
n.134T>A
c.4281T>A (p.Gly1427=)
c.1719T>A
n.7003T>A
c.6987T>A (p.Gly2329=)
c.6909T>A (p.Gly2303=)
c.4293T>A (p.Gly1431=)
c.6894T>A (p.Gly2298=)
c.108T>A (p.Gly36=)
n.7006T>A
5g.90692643T>CCA445404481ADGRV1c.6990T>C (p.Gly2330=)
c.265+16434T>C (n.265+16434T>C)
n.2449T>C
c.797T>C
n.134T>C
c.4281T>C (p.Gly1427=)
c.1719T>C
n.7003T>C
c.6987T>C (p.Gly2329=)
c.6909T>C (p.Gly2303=)
c.4293T>C (p.Gly1431=)
c.6894T>C (p.Gly2298=)
c.108T>C (p.Gly36=)
n.7006T>C
5g.90692643T>GCA445404480ADGRV1c.6990T>G (p.Gly2330=)
c.265+16434T>G (n.265+16434T>G)
n.2449T>G
c.797T>G
n.134T>G
c.4281T>G (p.Gly1427=)
c.1719T>G
n.7003T>G
c.6987T>G (p.Gly2329=)
c.6909T>G (p.Gly2303=)
c.4293T>G (p.Gly1431=)
c.6894T>G (p.Gly2298=)
c.108T>G (p.Gly36=)
n.7006T>G
5g.90692644A=CA1562859262ADGRV1c.6991A= (p.Thr2331=)
c.265+16435A= (n.265+16435A=)
n.2450A=
c.798A=
n.135A=
c.4282A= (p.Thr1428=)
c.1720A=
n.7004A=
c.6988A= (p.Thr2330=)
c.6910A= (p.Thr2304=)
c.4294A= (p.Thr1432=)
c.6895A= (p.Thr2299=)
c.109A= (p.Thr37=)
n.7007A=
5g.90692644A>CCA360370927ADGRV1c.6991A>C (p.Thr2331Pro)
c.265+16435A>C (n.265+16435A>C)
n.2450A>C
c.798A>C
n.135A>C
c.4282A>C (p.Thr1428Pro)
c.1720A>C
n.7004A>C
c.6988A>C (p.Thr2330Pro)
c.6910A>C (p.Thr2304Pro)
c.4294A>C (p.Thr1432Pro)
c.6895A>C (p.Thr2299Pro)
c.109A>C (p.Thr37Pro)
n.7007A>C
5g.90692644A>GCA360370929ADGRV1c.6991A>G (p.Thr2331Ala)
c.265+16435A>G (n.265+16435A>G)
n.2450A>G
c.798A>G
n.135A>G
c.4282A>G (p.Thr1428Ala)
c.1720A>G
n.7004A>G
c.6988A>G (p.Thr2330Ala)
c.6910A>G (p.Thr2304Ala)
c.4294A>G (p.Thr1432Ala)
c.6895A>G (p.Thr2299Ala)
c.109A>G (p.Thr37Ala)
n.7007A>G
 dbSNP
5g.90692644A>TCA360370931ADGRV1c.6991A>T (p.Thr2331Ser)
c.265+16435A>T (n.265+16435A>T)
n.2450A>T
c.798A>T
n.135A>T
c.4282A>T (p.Thr1428Ser)
c.1720A>T
n.7004A>T
c.6988A>T (p.Thr2330Ser)
c.6910A>T (p.Thr2304Ser)
c.4294A>T (p.Thr1432Ser)
c.6895A>T (p.Thr2299Ser)
c.109A>T (p.Thr37Ser)
n.7007A>T
5g.90692645C>ACA360370938ADGRV1c.6992C>A (p.Thr2331Asn)
c.265+16436C>A (n.265+16436C>A)
n.2451C>A
c.799C>A
n.136C>A
c.4283C>A (p.Thr1428Asn)
c.1721C>A
n.7005C>A
c.6989C>A (p.Thr2330Asn)
c.6911C>A (p.Thr2304Asn)
c.4295C>A (p.Thr1432Asn)
c.6896C>A (p.Thr2299Asn)
c.110C>A (p.Thr37Asn)
n.7008C>A
5g.90692645C=CA1562859263ADGRV1c.6992C= (p.Thr2331=)
c.265+16436C= (n.265+16436C=)
n.2451C=
c.799C=
n.136C=
c.4283C= (p.Thr1428=)
c.1721C=
n.7005C=
c.6989C= (p.Thr2330=)
c.6911C= (p.Thr2304=)
c.4295C= (p.Thr1432=)
c.6896C= (p.Thr2299=)
c.110C= (p.Thr37=)
n.7008C=
5g.90692645C>GCA360370939ADGRV1c.6992C>G (p.Thr2331Ser)
c.265+16436C>G (n.265+16436C>G)
n.2451C>G
c.799C>G
n.136C>G
c.4283C>G (p.Thr1428Ser)
c.1721C>G
n.7005C>G
c.6989C>G (p.Thr2330Ser)
c.6911C>G (p.Thr2304Ser)
c.4295C>G (p.Thr1432Ser)
c.6896C>G (p.Thr2299Ser)
c.110C>G (p.Thr37Ser)
n.7008C>G
5g.90692645C>TCA360370942ADGRV1c.6992C>T (p.Thr2331Ile)
c.265+16436C>T (n.265+16436C>T)
n.2451C>T
c.799C>T
n.136C>T
c.4283C>T (p.Thr1428Ile)
c.1721C>T
n.7005C>T
c.6989C>T (p.Thr2330Ile)
c.6911C>T (p.Thr2304Ile)
c.4295C>T (p.Thr1432Ile)
c.6896C>T (p.Thr2299Ile)
c.110C>T (p.Thr37Ile)
n.7008C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90692646T>ACA445404483ADGRV1c.6993T>A (p.Thr2331=)
c.265+16437T>A (n.265+16437T>A)
n.2452T>A
c.800T>A
n.137T>A
c.4284T>A (p.Thr1428=)
c.1722T>A
n.7006T>A
c.6990T>A (p.Thr2330=)
c.6912T>A (p.Thr2304=)
c.4296T>A (p.Thr1432=)
c.6897T>A (p.Thr2299=)
c.111T>A (p.Thr37=)
n.7009T>A
5g.90692646T>CCA445404484ADGRV1c.6993T>C (p.Thr2331=)
c.265+16437T>C (n.265+16437T>C)
n.2452T>C
c.800T>C
n.137T>C
c.4284T>C (p.Thr1428=)
c.1722T>C
n.7006T>C
c.6990T>C (p.Thr2330=)
c.6912T>C (p.Thr2304=)
c.4296T>C (p.Thr1432=)
c.6897T>C (p.Thr2299=)
c.111T>C (p.Thr37=)
n.7009T>C
 gnomAD v4
5g.90692646T>GCA445404485ADGRV1c.6993T>G (p.Thr2331=)
c.265+16437T>G (n.265+16437T>G)
n.2452T>G
c.800T>G
n.137T>G
c.4284T>G (p.Thr1428=)
c.1722T>G
n.7006T>G
c.6990T>G (p.Thr2330=)
c.6912T>G (p.Thr2304=)
c.4296T>G (p.Thr1432=)
c.6897T>G (p.Thr2299=)
c.111T>G (p.Thr37=)
n.7009T>G
5g.90692647A=CA1562859264ADGRV1c.6994A= (p.Ile2332=)
c.265+16438A= (n.265+16438A=)
n.2453A=
c.801A=
n.138A=
c.4285A= (p.Ile1429=)
c.1723A=
n.7007A=
c.6991A= (p.Ile2331=)
c.6913A= (p.Ile2305=)
c.4297A= (p.Ile1433=)
c.6898A= (p.Ile2300=)
c.112A= (p.Ile38=)
n.7010A=
5g.90692647A>CCA360370946ADGRV1c.6994A>C (p.Ile2332Leu)
c.265+16438A>C (n.265+16438A>C)
n.2453A>C
c.801A>C
n.138A>C
c.4285A>C (p.Ile1429Leu)
c.1723A>C
n.7007A>C
c.6991A>C (p.Ile2331Leu)
c.6913A>C (p.Ile2305Leu)
c.4297A>C (p.Ile1433Leu)
c.6898A>C (p.Ile2300Leu)
c.112A>C (p.Ile38Leu)
n.7010A>C
5g.90692647A>GCA360370947ADGRV1c.6994A>G (p.Ile2332Val)
c.265+16438A>G (n.265+16438A>G)
n.2453A>G
c.801A>G
n.138A>G
c.4285A>G (p.Ile1429Val)
c.1723A>G
n.7007A>G
c.6991A>G (p.Ile2331Val)
c.6913A>G (p.Ile2305Val)
c.4297A>G (p.Ile1433Val)
c.6898A>G (p.Ile2300Val)
c.112A>G (p.Ile38Val)
n.7010A>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.90692647A>TCA138188ADGRV1c.6994A>T (p.Ile2332Phe)
c.265+16438A>T (n.265+16438A>T)
n.2453A>T
c.801A>T
n.138A>T
c.4285A>T (p.Ile1429Phe)
c.1723A>T
n.7007A>T
c.6991A>T (p.Ile2331Phe)
c.6913A>T (p.Ile2305Phe)
c.4297A>T (p.Ile1433Phe)
c.6898A>T (p.Ile2300Phe)
c.112A>T (p.Ile38Phe)
n.7010A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692648T>ACA360370950ADGRV1c.6995T>A (p.Ile2332Asn)
c.265+16439T>A (n.265+16439T>A)
n.2454T>A
c.802T>A
n.139T>A
c.4286T>A (p.Ile1429Asn)
c.1724T>A
n.7008T>A
c.6992T>A (p.Ile2331Asn)
c.6914T>A (p.Ile2305Asn)
c.4298T>A (p.Ile1433Asn)
c.6899T>A (p.Ile2300Asn)
c.113T>A (p.Ile38Asn)
n.7011T>A
5g.90692648T>CCA3339947ADGRV1c.6995T>C (p.Ile2332Thr)
c.265+16439T>C (n.265+16439T>C)
n.2454T>C
c.802T>C
n.139T>C
c.4286T>C (p.Ile1429Thr)
c.1724T>C
n.7008T>C
c.6992T>C (p.Ile2331Thr)
c.6914T>C (p.Ile2305Thr)
c.4298T>C (p.Ile1433Thr)
c.6899T>C (p.Ile2300Thr)
c.113T>C (p.Ile38Thr)
n.7011T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692648T>GCA360370955ADGRV1c.6995T>G (p.Ile2332Ser)
c.265+16439T>G (n.265+16439T>G)
n.2454T>G
c.802T>G
n.139T>G
c.4286T>G (p.Ile1429Ser)
c.1724T>G
n.7008T>G
c.6992T>G (p.Ile2331Ser)
c.6914T>G (p.Ile2305Ser)
c.4298T>G (p.Ile1433Ser)
c.6899T>G (p.Ile2300Ser)
c.113T>G (p.Ile38Ser)
n.7011T>G
5g.90692648T=CA1562859265ADGRV1c.6995T= (p.Ile2332=)
c.265+16439T= (n.265+16439T=)
n.2454T=
c.802T=
n.139T=
c.4286T= (p.Ile1429=)
c.1724T=
n.7008T=
c.6992T= (p.Ile2331=)
c.6914T= (p.Ile2305=)
c.4298T= (p.Ile1433=)
c.6899T= (p.Ile2300=)
c.113T= (p.Ile38=)
n.7011T=
5g.90692649T>ACA445404486ADGRV1c.6996T>A (p.Ile2332=)
c.265+16440T>A (n.265+16440T>A)
n.2455T>A
c.803T>A
n.140T>A
c.4287T>A (p.Ile1429=)
c.1725T>A
n.7009T>A
c.6993T>A (p.Ile2331=)
c.6915T>A (p.Ile2305=)
c.4299T>A (p.Ile1433=)
c.6900T>A (p.Ile2300=)
c.114T>A (p.Ile38=)
n.7012T>A
5g.90692649T>CCA445404487ADGRV1c.6996T>C (p.Ile2332=)
c.265+16440T>C (n.265+16440T>C)
n.2455T>C
c.803T>C
n.140T>C
c.4287T>C (p.Ile1429=)
c.1725T>C
n.7009T>C
c.6993T>C (p.Ile2331=)
c.6915T>C (p.Ile2305=)
c.4299T>C (p.Ile1433=)
c.6900T>C (p.Ile2300=)
c.114T>C (p.Ile38=)
n.7012T>C
 gnomAD v4
5g.90692649T>GCA360370956ADGRV1c.6996T>G (p.Ile2332Met)
c.265+16440T>G (n.265+16440T>G)
n.2455T>G
c.803T>G
n.140T>G
c.4287T>G (p.Ile1429Met)
c.1725T>G
n.7009T>G
c.6993T>G (p.Ile2331Met)
c.6915T>G (p.Ile2305Met)
c.4299T>G (p.Ile1433Met)
c.6900T>G (p.Ile2300Met)
c.114T>G (p.Ile38Met)
n.7012T>G
5g.90692650G>ACA360370965ADGRV1c.6997G>A (p.Gly2333Arg)
c.265+16441G>A (n.265+16441G>A)
n.2456G>A
c.804G>A
n.141G>A
c.4288G>A (p.Gly1430Arg)
c.1726G>A
n.7010G>A
c.6994G>A (p.Gly2332Arg)
c.6916G>A (p.Gly2306Arg)
c.4300G>A (p.Gly1434Arg)
c.6901G>A (p.Gly2301Arg)
c.115G>A (p.Gly39Arg)
n.7013G>A
5g.90692650G>CCA360370962ADGRV1c.6997G>C (p.Gly2333Arg)
c.265+16441G>C (n.265+16441G>C)
n.2456G>C
c.804G>C
n.141G>C
c.4288G>C (p.Gly1430Arg)
c.1726G>C
n.7010G>C
c.6994G>C (p.Gly2332Arg)
c.6916G>C (p.Gly2306Arg)
c.4300G>C (p.Gly1434Arg)
c.6901G>C (p.Gly2301Arg)
c.115G>C (p.Gly39Arg)
n.7013G>C
5g.90692650G>TCA360370959ADGRV1c.6997G>T (p.Gly2333Trp)
c.265+16441G>T (n.265+16441G>T)
n.2456G>T
c.804G>T
n.141G>T
c.4288G>T (p.Gly1430Trp)
c.1726G>T
n.7010G>T
c.6994G>T (p.Gly2332Trp)
c.6916G>T (p.Gly2306Trp)
c.4300G>T (p.Gly1434Trp)
c.6901G>T (p.Gly2301Trp)
c.115G>T (p.Gly39Trp)
n.7013G>T
 gnomAD v4
5g.90692651G>ACA360370972ADGRV1c.6998G>A (p.Gly2333Glu)
c.265+16442G>A (n.265+16442G>A)
n.2457G>A
c.805G>A
n.142G>A
c.4289G>A (p.Gly1430Glu)
c.1727G>A
n.7011G>A
c.6995G>A (p.Gly2332Glu)
c.6917G>A (p.Gly2306Glu)
c.4301G>A (p.Gly1434Glu)
c.6902G>A (p.Gly2301Glu)
c.116G>A (p.Gly39Glu)
n.7014G>A
5g.90692651G>CCA360370974ADGRV1c.6998G>C (p.Gly2333Ala)
c.265+16442G>C (n.265+16442G>C)
n.2457G>C
c.805G>C
n.142G>C
c.4289G>C (p.Gly1430Ala)
c.1727G>C
n.7011G>C
c.6995G>C (p.Gly2332Ala)
c.6917G>C (p.Gly2306Ala)
c.4301G>C (p.Gly1434Ala)
c.6902G>C (p.Gly2301Ala)
c.116G>C (p.Gly39Ala)
n.7014G>C
5g.90692651G>TCA360370978ADGRV1c.6998G>T (p.Gly2333Val)
c.265+16442G>T (n.265+16442G>T)
n.2457G>T
c.805G>T
n.142G>T
c.4289G>T (p.Gly1430Val)
c.1727G>T
n.7011G>T
c.6995G>T (p.Gly2332Val)
c.6917G>T (p.Gly2306Val)
c.4301G>T (p.Gly1434Val)
c.6902G>T (p.Gly2301Val)
c.116G>T (p.Gly39Val)
n.7014G>T
 gnomAD v4
5g.90692652G>ACA445404488ADGRV1c.6999G>A (p.Gly2333=)
c.265+16443G>A (n.265+16443G>A)
n.2458G>A
c.806G>A
n.143G>A
c.4290G>A (p.Gly1430=)
c.1728G>A
n.7012G>A
c.6996G>A (p.Gly2332=)
c.6918G>A (p.Gly2306=)
c.4302G>A (p.Gly1434=)
c.6903G>A (p.Gly2301=)
c.117G>A (p.Gly39=)
n.7015G>A
5g.90692652G>CCA445404489ADGRV1c.6999G>C (p.Gly2333=)
c.265+16443G>C (n.265+16443G>C)
n.2458G>C
c.806G>C
n.143G>C
c.4290G>C (p.Gly1430=)
c.1728G>C
n.7012G>C
c.6996G>C (p.Gly2332=)
c.6918G>C (p.Gly2306=)
c.4302G>C (p.Gly1434=)
c.6903G>C (p.Gly2301=)
c.117G>C (p.Gly39=)
n.7015G>C
5g.90692652G>TCA445404490ADGRV1c.6999G>T (p.Gly2333=)
c.265+16443G>T (n.265+16443G>T)
n.2458G>T
c.806G>T
n.143G>T
c.4290G>T (p.Gly1430=)
c.1728G>T
n.7012G>T
c.6996G>T (p.Gly2332=)
c.6918G>T (p.Gly2306=)
c.4302G>T (p.Gly1434=)
c.6903G>T (p.Gly2301=)
c.117G>T (p.Gly39=)
n.7015G>T
5g.90692653T>ACA360370980ADGRV1c.7000T>A (p.Leu2334Ile)
c.265+16444T>A (n.265+16444T>A)
n.2459T>A
c.807T>A
n.144T>A
c.4291T>A (p.Leu1431Ile)
c.1729T>A
n.7013T>A
c.6997T>A (p.Leu2333Ile)
c.6919T>A (p.Leu2307Ile)
c.4303T>A (p.Leu1435Ile)
c.6904T>A (p.Leu2302Ile)
c.118T>A (p.Leu40Ile)
n.7016T>A
5g.90692653T>CCA445404491ADGRV1c.7000T>C (p.Leu2334=)
c.265+16444T>C (n.265+16444T>C)
n.2459T>C
c.807T>C
n.144T>C
c.4291T>C (p.Leu1431=)
c.1729T>C
n.7013T>C
c.6997T>C (p.Leu2333=)
c.6919T>C (p.Leu2307=)
c.4303T>C (p.Leu1435=)
c.6904T>C (p.Leu2302=)
c.118T>C (p.Leu40=)
n.7016T>C
5g.90692653T>GCA360370981ADGRV1c.7000T>G (p.Leu2334Val)
c.265+16444T>G (n.265+16444T>G)
n.2459T>G
c.807T>G
n.144T>G
c.4291T>G (p.Leu1431Val)
c.1729T>G
n.7013T>G
c.6997T>G (p.Leu2333Val)
c.6919T>G (p.Leu2307Val)
c.4303T>G (p.Leu1435Val)
c.6904T>G (p.Leu2302Val)
c.118T>G (p.Leu40Val)
n.7016T>G
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

Number of alleles fetched