Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90810639A>CCA360409175ADGRV1c.15379A>C (p.Asn5127His)
c.4333A>C (p.Asn1445His)
n.2646A>C
c.265+134430A>C (n.265+134430A>C)
c.1789A>C (p.Asn597His)
c.2362A>C (p.Asn788His)
n.15392A>C
c.15376A>C (p.Asn5126His)
c.15298A>C (p.Asn5100His)
c.12682A>C (p.Asn4228His)
c.15400A>C (p.Asn5134His)
c.15397A>C (p.Asn5133His)
c.15319A>C (p.Asn5107His)
c.15304A>C (p.Asn5102His)
c.15220A>C (p.Asn5074His)
c.*333A>C (n.*333A>C)
c.8518A>C (p.Asn2840His)
c.8497A>C (p.Asn2833His)
n.15395A>C
5g.90810639A>GCA360409177ADGRV1c.15379A>G (p.Asn5127Asp)
c.4333A>G (p.Asn1445Asp)
n.2646A>G
c.265+134430A>G (n.265+134430A>G)
c.1789A>G (p.Asn597Asp)
c.2362A>G (p.Asn788Asp)
n.15392A>G
c.15376A>G (p.Asn5126Asp)
c.15298A>G (p.Asn5100Asp)
c.12682A>G (p.Asn4228Asp)
c.15400A>G (p.Asn5134Asp)
c.15397A>G (p.Asn5133Asp)
c.15319A>G (p.Asn5107Asp)
c.15304A>G (p.Asn5102Asp)
c.15220A>G (p.Asn5074Asp)
c.*333A>G (n.*333A>G)
c.8518A>G (p.Asn2840Asp)
c.8497A>G (p.Asn2833Asp)
n.15395A>G
5g.90810639A>TCA360409179ADGRV1c.15379A>T (p.Asn5127Tyr)
c.4333A>T (p.Asn1445Tyr)
n.2646A>T
c.265+134430A>T (n.265+134430A>T)
c.1789A>T (p.Asn597Tyr)
c.2362A>T (p.Asn788Tyr)
n.15392A>T
c.15376A>T (p.Asn5126Tyr)
c.15298A>T (p.Asn5100Tyr)
c.12682A>T (p.Asn4228Tyr)
c.15400A>T (p.Asn5134Tyr)
c.15397A>T (p.Asn5133Tyr)
c.15319A>T (p.Asn5107Tyr)
c.15304A>T (p.Asn5102Tyr)
c.15220A>T (p.Asn5074Tyr)
c.*333A>T (n.*333A>T)
c.8518A>T (p.Asn2840Tyr)
c.8497A>T (p.Asn2833Tyr)
n.15395A>T
5g.90810640A>CCA360409182ADGRV1c.15380A>C (p.Asn5127Thr)
c.4334A>C (p.Asn1445Thr)
n.2647A>C
c.265+134431A>C (n.265+134431A>C)
c.1790A>C (p.Asn597Thr)
c.2363A>C (p.Asn788Thr)
n.15393A>C
c.15377A>C (p.Asn5126Thr)
c.15299A>C (p.Asn5100Thr)
c.12683A>C (p.Asn4228Thr)
c.15401A>C (p.Asn5134Thr)
c.15398A>C (p.Asn5133Thr)
c.15320A>C (p.Asn5107Thr)
c.15305A>C (p.Asn5102Thr)
c.15221A>C (p.Asn5074Thr)
c.*334A>C (n.*334A>C)
c.8519A>C (p.Asn2840Thr)
c.8498A>C (p.Asn2833Thr)
n.15396A>C
5g.90810640A>GCA360409184ADGRV1c.15380A>G (p.Asn5127Ser)
c.4334A>G (p.Asn1445Ser)
n.2647A>G
c.265+134431A>G (n.265+134431A>G)
c.1790A>G (p.Asn597Ser)
c.2363A>G (p.Asn788Ser)
n.15393A>G
c.15377A>G (p.Asn5126Ser)
c.15299A>G (p.Asn5100Ser)
c.12683A>G (p.Asn4228Ser)
c.15401A>G (p.Asn5134Ser)
c.15398A>G (p.Asn5133Ser)
c.15320A>G (p.Asn5107Ser)
c.15305A>G (p.Asn5102Ser)
c.15221A>G (p.Asn5074Ser)
c.*334A>G (n.*334A>G)
c.8519A>G (p.Asn2840Ser)
c.8498A>G (p.Asn2833Ser)
n.15396A>G
5g.90810640A>TCA360409185ADGRV1c.15380A>T (p.Asn5127Ile)
c.4334A>T (p.Asn1445Ile)
n.2647A>T
c.265+134431A>T (n.265+134431A>T)
c.1790A>T (p.Asn597Ile)
c.2363A>T (p.Asn788Ile)
n.15393A>T
c.15377A>T (p.Asn5126Ile)
c.15299A>T (p.Asn5100Ile)
c.12683A>T (p.Asn4228Ile)
c.15401A>T (p.Asn5134Ile)
c.15398A>T (p.Asn5133Ile)
c.15320A>T (p.Asn5107Ile)
c.15305A>T (p.Asn5102Ile)
c.15221A>T (p.Asn5074Ile)
c.*334A>T (n.*334A>T)
c.8519A>T (p.Asn2840Ile)
c.8498A>T (p.Asn2833Ile)
n.15396A>T
5g.90810641T>ACA360409187ADGRV1c.15381T>A (p.Asn5127Lys)
c.4335T>A (p.Asn1445Lys)
n.2648T>A
c.265+134432T>A (n.265+134432T>A)
c.1791T>A (p.Asn597Lys)
c.2364T>A (p.Asn788Lys)
n.15394T>A
c.15378T>A (p.Asn5126Lys)
c.15300T>A (p.Asn5100Lys)
c.12684T>A (p.Asn4228Lys)
c.15402T>A (p.Asn5134Lys)
c.15399T>A (p.Asn5133Lys)
c.15321T>A (p.Asn5107Lys)
c.15306T>A (p.Asn5102Lys)
c.15222T>A (p.Asn5074Lys)
c.*335T>A (n.*335T>A)
c.8520T>A (p.Asn2840Lys)
c.8499T>A (p.Asn2833Lys)
n.15397T>A
5g.90810641T>CCA445468047ADGRV1c.15381T>C (p.Asn5127=)
c.4335T>C (p.Asn1445=)
n.2648T>C
c.265+134432T>C (n.265+134432T>C)
c.1791T>C (p.Asn597=)
c.2364T>C (p.Asn788=)
n.15394T>C
c.15378T>C (p.Asn5126=)
c.15300T>C (p.Asn5100=)
c.12684T>C (p.Asn4228=)
c.15402T>C (p.Asn5134=)
c.15399T>C (p.Asn5133=)
c.15321T>C (p.Asn5107=)
c.15306T>C (p.Asn5102=)
c.15222T>C (p.Asn5074=)
c.*335T>C (n.*335T>C)
c.8520T>C (p.Asn2840=)
c.8499T>C (p.Asn2833=)
n.15397T>C
 dbSNP gnomAD v2 gnomAD v4
5g.90810641T>GCA360409189ADGRV1c.15381T>G (p.Asn5127Lys)
c.4335T>G (p.Asn1445Lys)
n.2648T>G
c.265+134432T>G (n.265+134432T>G)
c.1791T>G (p.Asn597Lys)
c.2364T>G (p.Asn788Lys)
n.15394T>G
c.15378T>G (p.Asn5126Lys)
c.15300T>G (p.Asn5100Lys)
c.12684T>G (p.Asn4228Lys)
c.15402T>G (p.Asn5134Lys)
c.15399T>G (p.Asn5133Lys)
c.15321T>G (p.Asn5107Lys)
c.15306T>G (p.Asn5102Lys)
c.15222T>G (p.Asn5074Lys)
c.*335T>G (n.*335T>G)
c.8520T>G (p.Asn2840Lys)
c.8499T>G (p.Asn2833Lys)
n.15397T>G
5g.90810641T=CA1562911469ADGRV1c.15381T= (p.Asn5127=)
c.4335T= (p.Asn1445=)
n.2648T=
c.265+134432T= (n.265+134432T=)
c.1791T= (p.Asn597=)
c.2364T= (p.Asn788=)
n.15394T=
c.15378T= (p.Asn5126=)
c.15300T= (p.Asn5100=)
c.12684T= (p.Asn4228=)
c.15402T= (p.Asn5134=)
c.15399T= (p.Asn5133=)
c.15321T= (p.Asn5107=)
c.15306T= (p.Asn5102=)
c.15222T= (p.Asn5074=)
c.*335T= (n.*335T=)
c.8520T= (p.Asn2840=)
c.8499T= (p.Asn2833=)
n.15397T=
5g.90810642G>ACA360409191ADGRV1c.15382G>A (p.Asp5128Asn)
c.4336G>A (p.Asp1446Asn)
n.2649G>A
c.265+134433G>A (n.265+134433G>A)
c.1792G>A (p.Asp598Asn)
c.2365G>A (p.Asp789Asn)
n.15395G>A
c.15379G>A (p.Asp5127Asn)
c.15301G>A (p.Asp5101Asn)
c.12685G>A (p.Asp4229Asn)
c.15403G>A (p.Asp5135Asn)
c.15400G>A (p.Asp5134Asn)
c.15322G>A (p.Asp5108Asn)
c.15307G>A (p.Asp5103Asn)
c.15223G>A (p.Asp5075Asn)
c.*336G>A (n.*336G>A)
c.8521G>A (p.Asp2841Asn)
c.8500G>A (p.Asp2834Asn)
n.15398G>A
5g.90810642G>CCA3341909ADGRV1c.15382G>C (p.Asp5128His)
c.4336G>C (p.Asp1446His)
n.2649G>C
c.265+134433G>C (n.265+134433G>C)
c.1792G>C (p.Asp598His)
c.2365G>C (p.Asp789His)
n.15395G>C
c.15379G>C (p.Asp5127His)
c.15301G>C (p.Asp5101His)
c.12685G>C (p.Asp4229His)
c.15403G>C (p.Asp5135His)
c.15400G>C (p.Asp5134His)
c.15322G>C (p.Asp5108His)
c.15307G>C (p.Asp5103His)
c.15223G>C (p.Asp5075His)
c.*336G>C (n.*336G>C)
c.8521G>C (p.Asp2841His)
c.8500G>C (p.Asp2834His)
n.15398G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810642G=CA1562911470ADGRV1c.15382G= (p.Asp5128=)
c.4336G= (p.Asp1446=)
n.2649G=
c.265+134433G= (n.265+134433G=)
c.1792G= (p.Asp598=)
c.2365G= (p.Asp789=)
n.15395G=
c.15379G= (p.Asp5127=)
c.15301G= (p.Asp5101=)
c.12685G= (p.Asp4229=)
c.15403G= (p.Asp5135=)
c.15400G= (p.Asp5134=)
c.15322G= (p.Asp5108=)
c.15307G= (p.Asp5103=)
c.15223G= (p.Asp5075=)
c.*336G= (n.*336G=)
c.8521G= (p.Asp2841=)
c.8500G= (p.Asp2834=)
n.15398G=
5g.90810642G>TCA360409194ADGRV1c.15382G>T (p.Asp5128Tyr)
c.4336G>T (p.Asp1446Tyr)
n.2649G>T
c.265+134433G>T (n.265+134433G>T)
c.1792G>T (p.Asp598Tyr)
c.2365G>T (p.Asp789Tyr)
n.15395G>T
c.15379G>T (p.Asp5127Tyr)
c.15301G>T (p.Asp5101Tyr)
c.12685G>T (p.Asp4229Tyr)
c.15403G>T (p.Asp5135Tyr)
c.15400G>T (p.Asp5134Tyr)
c.15322G>T (p.Asp5108Tyr)
c.15307G>T (p.Asp5103Tyr)
c.15223G>T (p.Asp5075Tyr)
c.*336G>T (n.*336G>T)
c.8521G>T (p.Asp2841Tyr)
c.8500G>T (p.Asp2834Tyr)
n.15398G>T
5g.90810643A>CCA360409196ADGRV1c.15383A>C (p.Asp5128Ala)
c.4337A>C (p.Asp1446Ala)
n.2650A>C
c.265+134434A>C (n.265+134434A>C)
c.1793A>C (p.Asp598Ala)
c.2366A>C (p.Asp789Ala)
n.15396A>C
c.15380A>C (p.Asp5127Ala)
c.15302A>C (p.Asp5101Ala)
c.12686A>C (p.Asp4229Ala)
c.15404A>C (p.Asp5135Ala)
c.15401A>C (p.Asp5134Ala)
c.15323A>C (p.Asp5108Ala)
c.15308A>C (p.Asp5103Ala)
c.15224A>C (p.Asp5075Ala)
c.*337A>C (n.*337A>C)
c.8522A>C (p.Asp2841Ala)
c.8501A>C (p.Asp2834Ala)
n.15399A>C
5g.90810643A>GCA360409197ADGRV1c.15383A>G (p.Asp5128Gly)
c.4337A>G (p.Asp1446Gly)
n.2650A>G
c.265+134434A>G (n.265+134434A>G)
c.1793A>G (p.Asp598Gly)
c.2366A>G (p.Asp789Gly)
n.15396A>G
c.15380A>G (p.Asp5127Gly)
c.15302A>G (p.Asp5101Gly)
c.12686A>G (p.Asp4229Gly)
c.15404A>G (p.Asp5135Gly)
c.15401A>G (p.Asp5134Gly)
c.15323A>G (p.Asp5108Gly)
c.15308A>G (p.Asp5103Gly)
c.15224A>G (p.Asp5075Gly)
c.*337A>G (n.*337A>G)
c.8522A>G (p.Asp2841Gly)
c.8501A>G (p.Asp2834Gly)
n.15399A>G
5g.90810643A>TCA360409198ADGRV1c.15383A>T (p.Asp5128Val)
c.4337A>T (p.Asp1446Val)
n.2650A>T
c.265+134434A>T (n.265+134434A>T)
c.1793A>T (p.Asp598Val)
c.2366A>T (p.Asp789Val)
n.15396A>T
c.15380A>T (p.Asp5127Val)
c.15302A>T (p.Asp5101Val)
c.12686A>T (p.Asp4229Val)
c.15404A>T (p.Asp5135Val)
c.15401A>T (p.Asp5134Val)
c.15323A>T (p.Asp5108Val)
c.15308A>T (p.Asp5103Val)
c.15224A>T (p.Asp5075Val)
c.*337A>T (n.*337A>T)
c.8522A>T (p.Asp2841Val)
c.8501A>T (p.Asp2834Val)
n.15399A>T
5g.90810644T>ACA360409200ADGRV1c.15384T>A (p.Asp5128Glu)
c.4338T>A (p.Asp1446Glu)
n.2651T>A
c.265+134435T>A (n.265+134435T>A)
c.1794T>A (p.Asp598Glu)
c.2367T>A (p.Asp789Glu)
n.15397T>A
c.15381T>A (p.Asp5127Glu)
c.15303T>A (p.Asp5101Glu)
c.12687T>A (p.Asp4229Glu)
c.15405T>A (p.Asp5135Glu)
c.15402T>A (p.Asp5134Glu)
c.15324T>A (p.Asp5108Glu)
c.15309T>A (p.Asp5103Glu)
c.15225T>A (p.Asp5075Glu)
c.*338T>A (n.*338T>A)
c.8523T>A (p.Asp2841Glu)
c.8502T>A (p.Asp2834Glu)
n.15400T>A
5g.90810644T>CCA445468058ADGRV1c.15384T>C (p.Asp5128=)
c.4338T>C (p.Asp1446=)
n.2651T>C
c.265+134435T>C (n.265+134435T>C)
c.1794T>C (p.Asp598=)
c.2367T>C (p.Asp789=)
n.15397T>C
c.15381T>C (p.Asp5127=)
c.15303T>C (p.Asp5101=)
c.12687T>C (p.Asp4229=)
c.15405T>C (p.Asp5135=)
c.15402T>C (p.Asp5134=)
c.15324T>C (p.Asp5108=)
c.15309T>C (p.Asp5103=)
c.15225T>C (p.Asp5075=)
c.*338T>C (n.*338T>C)
c.8523T>C (p.Asp2841=)
c.8502T>C (p.Asp2834=)
n.15400T>C
5g.90810644T>GCA360409199ADGRV1c.15384T>G (p.Asp5128Glu)
c.4338T>G (p.Asp1446Glu)
n.2651T>G
c.265+134435T>G (n.265+134435T>G)
c.1794T>G (p.Asp598Glu)
c.2367T>G (p.Asp789Glu)
n.15397T>G
c.15381T>G (p.Asp5127Glu)
c.15303T>G (p.Asp5101Glu)
c.12687T>G (p.Asp4229Glu)
c.15405T>G (p.Asp5135Glu)
c.15402T>G (p.Asp5134Glu)
c.15324T>G (p.Asp5108Glu)
c.15309T>G (p.Asp5103Glu)
c.15225T>G (p.Asp5075Glu)
c.*338T>G (n.*338T>G)
c.8523T>G (p.Asp2841Glu)
c.8502T>G (p.Asp2834Glu)
n.15400T>G
 gnomAD v4
5g.90810645G>ACA3341910ADGRV1c.15385G>A (p.Asp5129Asn)
c.4339G>A (p.Asp1447Asn)
n.2652G>A
c.265+134436G>A (n.265+134436G>A)
c.1795G>A (p.Asp599Asn)
c.2368G>A (p.Asp790Asn)
n.15398G>A
c.15382G>A (p.Asp5128Asn)
c.15304G>A (p.Asp5102Asn)
c.12688G>A (p.Asp4230Asn)
c.15406G>A (p.Asp5136Asn)
c.15403G>A (p.Asp5135Asn)
c.15325G>A (p.Asp5109Asn)
c.15310G>A (p.Asp5104Asn)
c.15226G>A (p.Asp5076Asn)
c.*339G>A (n.*339G>A)
c.8524G>A (p.Asp2842Asn)
c.8503G>A (p.Asp2835Asn)
n.15401G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810645G>CCA360409203ADGRV1c.15385G>C (p.Asp5129His)
c.4339G>C (p.Asp1447His)
n.2652G>C
c.265+134436G>C (n.265+134436G>C)
c.1795G>C (p.Asp599His)
c.2368G>C (p.Asp790His)
n.15398G>C
c.15382G>C (p.Asp5128His)
c.15304G>C (p.Asp5102His)
c.12688G>C (p.Asp4230His)
c.15406G>C (p.Asp5136His)
c.15403G>C (p.Asp5135His)
c.15325G>C (p.Asp5109His)
c.15310G>C (p.Asp5104His)
c.15226G>C (p.Asp5076His)
c.*339G>C (n.*339G>C)
c.8524G>C (p.Asp2842His)
c.8503G>C (p.Asp2835His)
n.15401G>C
 gnomAD v4
5g.90810645G=CA1562911471ADGRV1c.15385G= (p.Asp5129=)
c.4339G= (p.Asp1447=)
n.2652G=
c.265+134436G= (n.265+134436G=)
c.1795G= (p.Asp599=)
c.2368G= (p.Asp790=)
n.15398G=
c.15382G= (p.Asp5128=)
c.15304G= (p.Asp5102=)
c.12688G= (p.Asp4230=)
c.15406G= (p.Asp5136=)
c.15403G= (p.Asp5135=)
c.15325G= (p.Asp5109=)
c.15310G= (p.Asp5104=)
c.15226G= (p.Asp5076=)
c.*339G= (n.*339G=)
c.8524G= (p.Asp2842=)
c.8503G= (p.Asp2835=)
n.15401G=
5g.90810645G>TCA360409204ADGRV1c.15385G>T (p.Asp5129Tyr)
c.4339G>T (p.Asp1447Tyr)
n.2652G>T
c.265+134436G>T (n.265+134436G>T)
c.1795G>T (p.Asp599Tyr)
c.2368G>T (p.Asp790Tyr)
n.15398G>T
c.15382G>T (p.Asp5128Tyr)
c.15304G>T (p.Asp5102Tyr)
c.12688G>T (p.Asp4230Tyr)
c.15406G>T (p.Asp5136Tyr)
c.15403G>T (p.Asp5135Tyr)
c.15325G>T (p.Asp5109Tyr)
c.15310G>T (p.Asp5104Tyr)
c.15226G>T (p.Asp5076Tyr)
c.*339G>T (n.*339G>T)
c.8524G>T (p.Asp2842Tyr)
c.8503G>T (p.Asp2835Tyr)
n.15401G>T
5g.90810646A>CCA360409206ADGRV1c.15386A>C (p.Asp5129Ala)
c.4340A>C (p.Asp1447Ala)
n.2653A>C
c.265+134437A>C (n.265+134437A>C)
c.1796A>C (p.Asp599Ala)
c.2369A>C (p.Asp790Ala)
n.15399A>C
c.15383A>C (p.Asp5128Ala)
c.15305A>C (p.Asp5102Ala)
c.12689A>C (p.Asp4230Ala)
c.15407A>C (p.Asp5136Ala)
c.15404A>C (p.Asp5135Ala)
c.15326A>C (p.Asp5109Ala)
c.15311A>C (p.Asp5104Ala)
c.15227A>C (p.Asp5076Ala)
c.*340A>C (n.*340A>C)
c.8525A>C (p.Asp2842Ala)
c.8504A>C (p.Asp2835Ala)
n.15402A>C
5g.90810646A>GCA360409207ADGRV1c.15386A>G (p.Asp5129Gly)
c.4340A>G (p.Asp1447Gly)
n.2653A>G
c.265+134437A>G (n.265+134437A>G)
c.1796A>G (p.Asp599Gly)
c.2369A>G (p.Asp790Gly)
n.15399A>G
c.15383A>G (p.Asp5128Gly)
c.15305A>G (p.Asp5102Gly)
c.12689A>G (p.Asp4230Gly)
c.15407A>G (p.Asp5136Gly)
c.15404A>G (p.Asp5135Gly)
c.15326A>G (p.Asp5109Gly)
c.15311A>G (p.Asp5104Gly)
c.15227A>G (p.Asp5076Gly)
c.*340A>G (n.*340A>G)
c.8525A>G (p.Asp2842Gly)
c.8504A>G (p.Asp2835Gly)
n.15402A>G
5g.90810646A>TCA360409210ADGRV1c.15386A>T (p.Asp5129Val)
c.4340A>T (p.Asp1447Val)
n.2653A>T
c.265+134437A>T (n.265+134437A>T)
c.1796A>T (p.Asp599Val)
c.2369A>T (p.Asp790Val)
n.15399A>T
c.15383A>T (p.Asp5128Val)
c.15305A>T (p.Asp5102Val)
c.12689A>T (p.Asp4230Val)
c.15407A>T (p.Asp5136Val)
c.15404A>T (p.Asp5135Val)
c.15326A>T (p.Asp5109Val)
c.15311A>T (p.Asp5104Val)
c.15227A>T (p.Asp5076Val)
c.*340A>T (n.*340A>T)
c.8525A>T (p.Asp2842Val)
c.8504A>T (p.Asp2835Val)
n.15402A>T
5g.90810647C>ACA360409211ADGRV1c.15387C>A (p.Asp5129Glu)
c.4341C>A (p.Asp1447Glu)
n.2654C>A
c.265+134438C>A (n.265+134438C>A)
c.1797C>A (p.Asp599Glu)
c.2370C>A (p.Asp790Glu)
n.15400C>A
c.15384C>A (p.Asp5128Glu)
c.15306C>A (p.Asp5102Glu)
c.12690C>A (p.Asp4230Glu)
c.15408C>A (p.Asp5136Glu)
c.15405C>A (p.Asp5135Glu)
c.15327C>A (p.Asp5109Glu)
c.15312C>A (p.Asp5104Glu)
c.15228C>A (p.Asp5076Glu)
c.*341C>A (n.*341C>A)
c.8526C>A (p.Asp2842Glu)
c.8505C>A (p.Asp2835Glu)
n.15403C>A
5g.90810647C>GCA360409213ADGRV1c.15387C>G (p.Asp5129Glu)
c.4341C>G (p.Asp1447Glu)
n.2654C>G
c.265+134438C>G (n.265+134438C>G)
c.1797C>G (p.Asp599Glu)
c.2370C>G (p.Asp790Glu)
n.15400C>G
c.15384C>G (p.Asp5128Glu)
c.15306C>G (p.Asp5102Glu)
c.12690C>G (p.Asp4230Glu)
c.15408C>G (p.Asp5136Glu)
c.15405C>G (p.Asp5135Glu)
c.15327C>G (p.Asp5109Glu)
c.15312C>G (p.Asp5104Glu)
c.15228C>G (p.Asp5076Glu)
c.*341C>G (n.*341C>G)
c.8526C>G (p.Asp2842Glu)
c.8505C>G (p.Asp2835Glu)
n.15403C>G
5g.90810647C>TCA445468067ADGRV1c.15387C>T (p.Asp5129=)
c.4341C>T (p.Asp1447=)
n.2654C>T
c.265+134438C>T (n.265+134438C>T)
c.1797C>T (p.Asp599=)
c.2370C>T (p.Asp790=)
n.15400C>T
c.15384C>T (p.Asp5128=)
c.15306C>T (p.Asp5102=)
c.12690C>T (p.Asp4230=)
c.15408C>T (p.Asp5136=)
c.15405C>T (p.Asp5135=)
c.15327C>T (p.Asp5109=)
c.15312C>T (p.Asp5104=)
c.15228C>T (p.Asp5076=)
c.*341C>T (n.*341C>T)
c.8526C>T (p.Asp2842=)
c.8505C>T (p.Asp2835=)
n.15403C>T
5g.90810648C>ACA360409215ADGRV1c.15388C>A (p.Leu5130Met)
c.4342C>A (p.Leu1448Met)
n.2655C>A
c.265+134439C>A (n.265+134439C>A)
c.1798C>A (p.Leu600Met)
c.2371C>A (p.Leu791Met)
n.15401C>A
c.15385C>A (p.Leu5129Met)
c.15307C>A (p.Leu5103Met)
c.12691C>A (p.Leu4231Met)
c.15409C>A (p.Leu5137Met)
c.15406C>A (p.Leu5136Met)
c.15328C>A (p.Leu5110Met)
c.15313C>A (p.Leu5105Met)
c.15229C>A (p.Leu5077Met)
c.*342C>A (n.*342C>A)
c.8527C>A (p.Leu2843Met)
c.8506C>A (p.Leu2836Met)
n.15404C>A
5g.90810648C>GCA360409216ADGRV1c.15388C>G (p.Leu5130Val)
c.4342C>G (p.Leu1448Val)
n.2655C>G
c.265+134439C>G (n.265+134439C>G)
c.1798C>G (p.Leu600Val)
c.2371C>G (p.Leu791Val)
n.15401C>G
c.15385C>G (p.Leu5129Val)
c.15307C>G (p.Leu5103Val)
c.12691C>G (p.Leu4231Val)
c.15409C>G (p.Leu5137Val)
c.15406C>G (p.Leu5136Val)
c.15328C>G (p.Leu5110Val)
c.15313C>G (p.Leu5105Val)
c.15229C>G (p.Leu5077Val)
c.*342C>G (n.*342C>G)
c.8527C>G (p.Leu2843Val)
c.8506C>G (p.Leu2836Val)
n.15404C>G
5g.90810648C>TCA445468073ADGRV1c.15388C>T (p.Leu5130=)
c.4342C>T (p.Leu1448=)
n.2655C>T
c.265+134439C>T (n.265+134439C>T)
c.1798C>T (p.Leu600=)
c.2371C>T (p.Leu791=)
n.15401C>T
c.15385C>T (p.Leu5129=)
c.15307C>T (p.Leu5103=)
c.12691C>T (p.Leu4231=)
c.15409C>T (p.Leu5137=)
c.15406C>T (p.Leu5136=)
c.15328C>T (p.Leu5110=)
c.15313C>T (p.Leu5105=)
c.15229C>T (p.Leu5077=)
c.*342C>T (n.*342C>T)
c.8527C>T (p.Leu2843=)
c.8506C>T (p.Leu2836=)
n.15404C>T
5g.90810649T>ACA360409218ADGRV1c.15389T>A (p.Leu5130Gln)
c.4343T>A (p.Leu1448Gln)
n.2656T>A
c.265+134440T>A (n.265+134440T>A)
c.1799T>A (p.Leu600Gln)
c.2372T>A (p.Leu791Gln)
n.15402T>A
c.15386T>A (p.Leu5129Gln)
c.15308T>A (p.Leu5103Gln)
c.12692T>A (p.Leu4231Gln)
c.15410T>A (p.Leu5137Gln)
c.15407T>A (p.Leu5136Gln)
c.15329T>A (p.Leu5110Gln)
c.15314T>A (p.Leu5105Gln)
c.15230T>A (p.Leu5077Gln)
c.*343T>A (n.*343T>A)
c.8528T>A (p.Leu2843Gln)
c.8507T>A (p.Leu2836Gln)
n.15405T>A
5g.90810649T>CCA360409219ADGRV1c.15389T>C (p.Leu5130Pro)
c.4343T>C (p.Leu1448Pro)
n.2656T>C
c.265+134440T>C (n.265+134440T>C)
c.1799T>C (p.Leu600Pro)
c.2372T>C (p.Leu791Pro)
n.15402T>C
c.15386T>C (p.Leu5129Pro)
c.15308T>C (p.Leu5103Pro)
c.12692T>C (p.Leu4231Pro)
c.15410T>C (p.Leu5137Pro)
c.15407T>C (p.Leu5136Pro)
c.15329T>C (p.Leu5110Pro)
c.15314T>C (p.Leu5105Pro)
c.15230T>C (p.Leu5077Pro)
c.*343T>C (n.*343T>C)
c.8528T>C (p.Leu2843Pro)
c.8507T>C (p.Leu2836Pro)
n.15405T>C
5g.90810649T>GCA360409220ADGRV1c.15389T>G (p.Leu5130Arg)
c.4343T>G (p.Leu1448Arg)
n.2656T>G
c.265+134440T>G (n.265+134440T>G)
c.1799T>G (p.Leu600Arg)
c.2372T>G (p.Leu791Arg)
n.15402T>G
c.15386T>G (p.Leu5129Arg)
c.15308T>G (p.Leu5103Arg)
c.12692T>G (p.Leu4231Arg)
c.15410T>G (p.Leu5137Arg)
c.15407T>G (p.Leu5136Arg)
c.15329T>G (p.Leu5110Arg)
c.15314T>G (p.Leu5105Arg)
c.15230T>G (p.Leu5077Arg)
c.*343T>G (n.*343T>G)
c.8528T>G (p.Leu2843Arg)
c.8507T>G (p.Leu2836Arg)
n.15405T>G
5g.90810650G>ACA445468075ADGRV1c.15390G>A (p.Leu5130=)
c.4344G>A (p.Leu1448=)
n.2657G>A
c.265+134441G>A (n.265+134441G>A)
c.1800G>A (p.Leu600=)
c.2373G>A (p.Leu791=)
n.15403G>A
c.15387G>A (p.Leu5129=)
c.15309G>A (p.Leu5103=)
c.12693G>A (p.Leu4231=)
c.15411G>A (p.Leu5137=)
c.15408G>A (p.Leu5136=)
c.15330G>A (p.Leu5110=)
c.15315G>A (p.Leu5105=)
c.15231G>A (p.Leu5077=)
c.*344G>A (n.*344G>A)
c.8529G>A (p.Leu2843=)
c.8508G>A (p.Leu2836=)
n.15406G>A
5g.90810650G>CCA445468077ADGRV1c.15390G>C (p.Leu5130=)
c.4344G>C (p.Leu1448=)
n.2657G>C
c.265+134441G>C (n.265+134441G>C)
c.1800G>C (p.Leu600=)
c.2373G>C (p.Leu791=)
n.15403G>C
c.15387G>C (p.Leu5129=)
c.15309G>C (p.Leu5103=)
c.12693G>C (p.Leu4231=)
c.15411G>C (p.Leu5137=)
c.15408G>C (p.Leu5136=)
c.15330G>C (p.Leu5110=)
c.15315G>C (p.Leu5105=)
c.15231G>C (p.Leu5077=)
c.*344G>C (n.*344G>C)
c.8529G>C (p.Leu2843=)
c.8508G>C (p.Leu2836=)
n.15406G>C
5g.90810650G>TCA445468079ADGRV1c.15390G>T (p.Leu5130=)
c.4344G>T (p.Leu1448=)
n.2657G>T
c.265+134441G>T (n.265+134441G>T)
c.1800G>T (p.Leu600=)
c.2373G>T (p.Leu791=)
n.15403G>T
c.15387G>T (p.Leu5129=)
c.15309G>T (p.Leu5103=)
c.12693G>T (p.Leu4231=)
c.15411G>T (p.Leu5137=)
c.15408G>T (p.Leu5136=)
c.15330G>T (p.Leu5110=)
c.15315G>T (p.Leu5105=)
c.15231G>T (p.Leu5077=)
c.*344G>T (n.*344G>T)
c.8529G>T (p.Leu2843=)
c.8508G>T (p.Leu2836=)
n.15406G>T
5g.90810651G>ACA360409222ADGRV1c.15391G>A (p.Ala5131Thr)
c.4345G>A (p.Ala1449Thr)
n.2658G>A
c.265+134442G>A (n.265+134442G>A)
c.1801G>A (p.Ala601Thr)
c.2374G>A (p.Ala792Thr)
n.15404G>A
c.15388G>A (p.Ala5130Thr)
c.15310G>A (p.Ala5104Thr)
c.12694G>A (p.Ala4232Thr)
c.15412G>A (p.Ala5138Thr)
c.15409G>A (p.Ala5137Thr)
c.15331G>A (p.Ala5111Thr)
c.15316G>A (p.Ala5106Thr)
c.15232G>A (p.Ala5078Thr)
c.*345G>A (n.*345G>A)
c.8530G>A (p.Ala2844Thr)
c.8509G>A (p.Ala2837Thr)
n.15407G>A
 gnomAD v4
5g.90810651G>CCA360409224ADGRV1c.15391G>C (p.Ala5131Pro)
c.4345G>C (p.Ala1449Pro)
n.2658G>C
c.265+134442G>C (n.265+134442G>C)
c.1801G>C (p.Ala601Pro)
c.2374G>C (p.Ala792Pro)
n.15404G>C
c.15388G>C (p.Ala5130Pro)
c.15310G>C (p.Ala5104Pro)
c.12694G>C (p.Ala4232Pro)
c.15412G>C (p.Ala5138Pro)
c.15409G>C (p.Ala5137Pro)
c.15331G>C (p.Ala5111Pro)
c.15316G>C (p.Ala5106Pro)
c.15232G>C (p.Ala5078Pro)
c.*345G>C (n.*345G>C)
c.8530G>C (p.Ala2844Pro)
c.8509G>C (p.Ala2837Pro)
n.15407G>C
 gnomAD v4
5g.90810651G=CA1562911472ADGRV1c.15391G= (p.Ala5131=)
c.4345G= (p.Ala1449=)
n.2658G=
c.265+134442G= (n.265+134442G=)
c.1801G= (p.Ala601=)
c.2374G= (p.Ala792=)
n.15404G=
c.15388G= (p.Ala5130=)
c.15310G= (p.Ala5104=)
c.12694G= (p.Ala4232=)
c.15412G= (p.Ala5138=)
c.15409G= (p.Ala5137=)
c.15331G= (p.Ala5111=)
c.15316G= (p.Ala5106=)
c.15232G= (p.Ala5078=)
c.*345G= (n.*345G=)
c.8530G= (p.Ala2844=)
c.8509G= (p.Ala2837=)
n.15407G=
5g.90810651G>TCA122821663ADGRV1c.15391G>T (p.Ala5131Ser)
c.4345G>T (p.Ala1449Ser)
n.2658G>T
c.265+134442G>T (n.265+134442G>T)
c.1801G>T (p.Ala601Ser)
c.2374G>T (p.Ala792Ser)
n.15404G>T
c.15388G>T (p.Ala5130Ser)
c.15310G>T (p.Ala5104Ser)
c.12694G>T (p.Ala4232Ser)
c.15412G>T (p.Ala5138Ser)
c.15409G>T (p.Ala5137Ser)
c.15331G>T (p.Ala5111Ser)
c.15316G>T (p.Ala5106Ser)
c.15232G>T (p.Ala5078Ser)
c.*345G>T (n.*345G>T)
c.8530G>T (p.Ala2844Ser)
c.8509G>T (p.Ala2837Ser)
n.15407G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90810652C>ACA360409226ADGRV1c.15392C>A (p.Ala5131Glu)
c.4346C>A (p.Ala1449Glu)
n.2659C>A
c.265+134443C>A (n.265+134443C>A)
c.1802C>A (p.Ala601Glu)
c.2375C>A (p.Ala792Glu)
n.15405C>A
c.15389C>A (p.Ala5130Glu)
c.15311C>A (p.Ala5104Glu)
c.12695C>A (p.Ala4232Glu)
c.15413C>A (p.Ala5138Glu)
c.15410C>A (p.Ala5137Glu)
c.15332C>A (p.Ala5111Glu)
c.15317C>A (p.Ala5106Glu)
c.15233C>A (p.Ala5078Glu)
c.*346C>A (n.*346C>A)
c.8531C>A (p.Ala2844Glu)
c.8510C>A (p.Ala2837Glu)
n.15408C>A
5g.90810652C>GCA360409228ADGRV1c.15392C>G (p.Ala5131Gly)
c.4346C>G (p.Ala1449Gly)
n.2659C>G
c.265+134443C>G (n.265+134443C>G)
c.1802C>G (p.Ala601Gly)
c.2375C>G (p.Ala792Gly)
n.15405C>G
c.15389C>G (p.Ala5130Gly)
c.15311C>G (p.Ala5104Gly)
c.12695C>G (p.Ala4232Gly)
c.15413C>G (p.Ala5138Gly)
c.15410C>G (p.Ala5137Gly)
c.15332C>G (p.Ala5111Gly)
c.15317C>G (p.Ala5106Gly)
c.15233C>G (p.Ala5078Gly)
c.*346C>G (n.*346C>G)
c.8531C>G (p.Ala2844Gly)
c.8510C>G (p.Ala2837Gly)
n.15408C>G
5g.90810652C>TCA360409230ADGRV1c.15392C>T (p.Ala5131Val)
c.4346C>T (p.Ala1449Val)
n.2659C>T
c.265+134443C>T (n.265+134443C>T)
c.1802C>T (p.Ala601Val)
c.2375C>T (p.Ala792Val)
n.15405C>T
c.15389C>T (p.Ala5130Val)
c.15311C>T (p.Ala5104Val)
c.12695C>T (p.Ala4232Val)
c.15413C>T (p.Ala5138Val)
c.15410C>T (p.Ala5137Val)
c.15332C>T (p.Ala5111Val)
c.15317C>T (p.Ala5106Val)
c.15233C>T (p.Ala5078Val)
c.*346C>T (n.*346C>T)
c.8531C>T (p.Ala2844Val)
c.8510C>T (p.Ala2837Val)
n.15408C>T
 gnomAD v4
5g.90810653A=CA1562911473ADGRV1c.15393A= (p.Ala5131=)
c.4347A= (p.Ala1449=)
n.2660A=
c.265+134444A= (n.265+134444A=)
c.1803A= (p.Ala601=)
c.2376A= (p.Ala792=)
n.15406A=
c.15390A= (p.Ala5130=)
c.15312A= (p.Ala5104=)
c.12696A= (p.Ala4232=)
c.15414A= (p.Ala5138=)
c.15411A= (p.Ala5137=)
c.15333A= (p.Ala5111=)
c.15318A= (p.Ala5106=)
c.15234A= (p.Ala5078=)
c.*347A= (n.*347A=)
c.8532A= (p.Ala2844=)
c.8511A= (p.Ala2837=)
n.15409A=
5g.90810653A>CCA445468088ADGRV1c.15393A>C (p.Ala5131=)
c.4347A>C (p.Ala1449=)
n.2660A>C
c.265+134444A>C (n.265+134444A>C)
c.1803A>C (p.Ala601=)
c.2376A>C (p.Ala792=)
n.15406A>C
c.15390A>C (p.Ala5130=)
c.15312A>C (p.Ala5104=)
c.12696A>C (p.Ala4232=)
c.15414A>C (p.Ala5138=)
c.15411A>C (p.Ala5137=)
c.15333A>C (p.Ala5111=)
c.15318A>C (p.Ala5106=)
c.15234A>C (p.Ala5078=)
c.*347A>C (n.*347A>C)
c.8532A>C (p.Ala2844=)
c.8511A>C (p.Ala2837=)
n.15409A>C
5g.90810653A>GCA3341911ADGRV1c.15393A>G (p.Ala5131=)
c.4347A>G (p.Ala1449=)
n.2660A>G
c.265+134444A>G (n.265+134444A>G)
c.1803A>G (p.Ala601=)
c.2376A>G (p.Ala792=)
n.15406A>G
c.15390A>G (p.Ala5130=)
c.15312A>G (p.Ala5104=)
c.12696A>G (p.Ala4232=)
c.15414A>G (p.Ala5138=)
c.15411A>G (p.Ala5137=)
c.15333A>G (p.Ala5111=)
c.15318A>G (p.Ala5106=)
c.15234A>G (p.Ala5078=)
c.*347A>G (n.*347A>G)
c.8532A>G (p.Ala2844=)
c.8511A>G (p.Ala2837=)
n.15409A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810653A>TCA445468090ADGRV1c.15393A>T (p.Ala5131=)
c.4347A>T (p.Ala1449=)
n.2660A>T
c.265+134444A>T (n.265+134444A>T)
c.1803A>T (p.Ala601=)
c.2376A>T (p.Ala792=)
n.15406A>T
c.15390A>T (p.Ala5130=)
c.15312A>T (p.Ala5104=)
c.12696A>T (p.Ala4232=)
c.15414A>T (p.Ala5138=)
c.15411A>T (p.Ala5137=)
c.15333A>T (p.Ala5111=)
c.15318A>T (p.Ala5106=)
c.15234A>T (p.Ala5078=)
c.*347A>T (n.*347A>T)
c.8532A>T (p.Ala2844=)
c.8511A>T (p.Ala2837=)
n.15409A>T
5g.90810654G>ACA3341912ADGRV1c.15394G>A (p.Gly5132Arg)
c.4348G>A (p.Gly1450Arg)
n.2661G>A
c.265+134445G>A (n.265+134445G>A)
c.1804G>A (p.Gly602Arg)
c.2377G>A (p.Gly793Arg)
n.15407G>A
c.15391G>A (p.Gly5131Arg)
c.15313G>A (p.Gly5105Arg)
c.12697G>A (p.Gly4233Arg)
c.15415G>A (p.Gly5139Arg)
c.15412G>A (p.Gly5138Arg)
c.15334G>A (p.Gly5112Arg)
c.15319G>A (p.Gly5107Arg)
c.15235G>A (p.Gly5079Arg)
c.*348G>A (n.*348G>A)
c.8533G>A (p.Gly2845Arg)
c.8512G>A (p.Gly2838Arg)
n.15410G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810654G>CCA360409233ADGRV1c.15394G>C (p.Gly5132Arg)
c.4348G>C (p.Gly1450Arg)
n.2661G>C
c.265+134445G>C (n.265+134445G>C)
c.1804G>C (p.Gly602Arg)
c.2377G>C (p.Gly793Arg)
n.15407G>C
c.15391G>C (p.Gly5131Arg)
c.15313G>C (p.Gly5105Arg)
c.12697G>C (p.Gly4233Arg)
c.15415G>C (p.Gly5139Arg)
c.15412G>C (p.Gly5138Arg)
c.15334G>C (p.Gly5112Arg)
c.15319G>C (p.Gly5107Arg)
c.15235G>C (p.Gly5079Arg)
c.*348G>C (n.*348G>C)
c.8533G>C (p.Gly2845Arg)
c.8512G>C (p.Gly2838Arg)
n.15410G>C
5g.90810654G=CA1562911474ADGRV1c.15394G= (p.Gly5132=)
c.4348G= (p.Gly1450=)
n.2661G=
c.265+134445G= (n.265+134445G=)
c.1804G= (p.Gly602=)
c.2377G= (p.Gly793=)
n.15407G=
c.15391G= (p.Gly5131=)
c.15313G= (p.Gly5105=)
c.12697G= (p.Gly4233=)
c.15415G= (p.Gly5139=)
c.15412G= (p.Gly5138=)
c.15334G= (p.Gly5112=)
c.15319G= (p.Gly5107=)
c.15235G= (p.Gly5079=)
c.*348G= (n.*348G=)
c.8533G= (p.Gly2845=)
c.8512G= (p.Gly2838=)
n.15410G=
5g.90810654G>TCA360409235ADGRV1c.15394G>T (p.Gly5132Ter)
c.4348G>T (p.Gly1450Ter)
n.2661G>T
c.265+134445G>T (n.265+134445G>T)
c.1804G>T (p.Gly602Ter)
c.2377G>T (p.Gly793Ter)
n.15407G>T
c.15391G>T (p.Gly5131Ter)
c.15313G>T (p.Gly5105Ter)
c.12697G>T (p.Gly4233Ter)
c.15415G>T (p.Gly5139Ter)
c.15412G>T (p.Gly5138Ter)
c.15334G>T (p.Gly5112Ter)
c.15319G>T (p.Gly5107Ter)
c.15235G>T (p.Gly5079Ter)
c.*348G>T (n.*348G>T)
c.8533G>T (p.Gly2845Ter)
c.8512G>T (p.Gly2838Ter)
n.15410G>T
5g.90810655G>ACA360409237ADGRV1c.15395G>A (p.Gly5132Glu)
c.4349G>A (p.Gly1450Glu)
n.2662G>A
c.265+134446G>A (n.265+134446G>A)
c.1805G>A (p.Gly602Glu)
c.2378G>A (p.Gly793Glu)
n.15408G>A
c.15392G>A (p.Gly5131Glu)
c.15314G>A (p.Gly5105Glu)
c.12698G>A (p.Gly4233Glu)
c.15416G>A (p.Gly5139Glu)
c.15413G>A (p.Gly5138Glu)
c.15335G>A (p.Gly5112Glu)
c.15320G>A (p.Gly5107Glu)
c.15236G>A (p.Gly5079Glu)
c.*349G>A (n.*349G>A)
c.8534G>A (p.Gly2845Glu)
c.8513G>A (p.Gly2838Glu)
n.15411G>A
 COSMIC
5g.90810655G>CCA360409239ADGRV1c.15395G>C (p.Gly5132Ala)
c.4349G>C (p.Gly1450Ala)
n.2662G>C
c.265+134446G>C (n.265+134446G>C)
c.1805G>C (p.Gly602Ala)
c.2378G>C (p.Gly793Ala)
n.15408G>C
c.15392G>C (p.Gly5131Ala)
c.15314G>C (p.Gly5105Ala)
c.12698G>C (p.Gly4233Ala)
c.15416G>C (p.Gly5139Ala)
c.15413G>C (p.Gly5138Ala)
c.15335G>C (p.Gly5112Ala)
c.15320G>C (p.Gly5107Ala)
c.15236G>C (p.Gly5079Ala)
c.*349G>C (n.*349G>C)
c.8534G>C (p.Gly2845Ala)
c.8513G>C (p.Gly2838Ala)
n.15411G>C
5g.90810655G>TCA360409240ADGRV1c.15395G>T (p.Gly5132Val)
c.4349G>T (p.Gly1450Val)
n.2662G>T
c.265+134446G>T (n.265+134446G>T)
c.1805G>T (p.Gly602Val)
c.2378G>T (p.Gly793Val)
n.15408G>T
c.15392G>T (p.Gly5131Val)
c.15314G>T (p.Gly5105Val)
c.12698G>T (p.Gly4233Val)
c.15416G>T (p.Gly5139Val)
c.15413G>T (p.Gly5138Val)
c.15335G>T (p.Gly5112Val)
c.15320G>T (p.Gly5107Val)
c.15236G>T (p.Gly5079Val)
c.*349G>T (n.*349G>T)
c.8534G>T (p.Gly2845Val)
c.8513G>T (p.Gly2838Val)
n.15411G>T
5g.90810655_90810657delinsGAACA1562911475ADGRV1c.15395_15397delinsGAA (p.Gly5132=)
c.4349_4351delinsGAA (p.Gly1450=)
n.2662_2664delinsGAA
c.265+134446_265+134448delinsGAA (n.265+134446_265+134448delinsGAA)
c.1805_1807delinsGAA (p.Gly602=)
c.2378_2380delinsGAA (p.Gly793=)
n.15408_15410delinsGAA
c.15392_15394delinsGAA (p.Gly5131=)
c.15314_15316delinsGAA (p.Gly5105=)
c.12698_12700delinsGAA (p.Gly4233=)
c.15416_15418delinsGAA (p.Gly5139=)
c.15413_15415delinsGAA (p.Gly5138=)
c.15335_15337delinsGAA (p.Gly5112=)
c.15320_15322delinsGAA (p.Gly5107=)
c.15236_15238delinsGAA (p.Gly5079=)
c.*349_*351delinsGAA (n.*349_*351delinsGAA)
c.8534_8536delinsGAA (p.Gly2845=)
c.8513_8515delinsGAA (p.Gly2838=)
n.15411_15413delinsGAA
5g.90810656A>CCA445468097ADGRV1c.15396A>C (p.Gly5132=)
c.4350A>C (p.Gly1450=)
n.2663A>C
c.265+134447A>C (n.265+134447A>C)
c.1806A>C (p.Gly602=)
c.2379A>C (p.Gly793=)
n.15409A>C
c.15393A>C (p.Gly5131=)
c.15315A>C (p.Gly5105=)
c.12699A>C (p.Gly4233=)
c.15417A>C (p.Gly5139=)
c.15414A>C (p.Gly5138=)
c.15336A>C (p.Gly5112=)
c.15321A>C (p.Gly5107=)
c.15237A>C (p.Gly5079=)
c.*350A>C (n.*350A>C)
c.8535A>C (p.Gly2845=)
c.8514A>C (p.Gly2838=)
n.15412A>C
5g.90810656A>GCA445468098ADGRV1c.15396A>G (p.Gly5132=)
c.4350A>G (p.Gly1450=)
n.2663A>G
c.265+134447A>G (n.265+134447A>G)
c.1806A>G (p.Gly602=)
c.2379A>G (p.Gly793=)
n.15409A>G
c.15393A>G (p.Gly5131=)
c.15315A>G (p.Gly5105=)
c.12699A>G (p.Gly4233=)
c.15417A>G (p.Gly5139=)
c.15414A>G (p.Gly5138=)
c.15336A>G (p.Gly5112=)
c.15321A>G (p.Gly5107=)
c.15237A>G (p.Gly5079=)
c.*350A>G (n.*350A>G)
c.8535A>G (p.Gly2845=)
c.8514A>G (p.Gly2838=)
n.15412A>G
5g.90810656A>TCA445468099ADGRV1c.15396A>T (p.Gly5132=)
c.4350A>T (p.Gly1450=)
n.2663A>T
c.265+134447A>T (n.265+134447A>T)
c.1806A>T (p.Gly602=)
c.2379A>T (p.Gly793=)
n.15409A>T
c.15393A>T (p.Gly5131=)
c.15315A>T (p.Gly5105=)
c.12699A>T (p.Gly4233=)
c.15417A>T (p.Gly5139=)
c.15414A>T (p.Gly5138=)
c.15336A>T (p.Gly5112=)
c.15321A>T (p.Gly5107=)
c.15237A>T (p.Gly5079=)
c.*350A>T (n.*350A>T)
c.8535A>T (p.Gly2845=)
c.8514A>T (p.Gly2838=)
n.15412A>T
5g.90810656_90810657delCA1078666845ADGRV1c.15396_15397del (p.Met5133GlyfsTer14)
c.4350_4351del (p.Met1451GlyfsTer14)
n.2663_2664del
c.265+134447_265+134448del (n.265+134447_265+134448del)
c.1806_1807del (p.Met603GlyfsTer14)
c.2379_2380del (p.Met794GlyfsTer14)
n.15409_15410del
c.15393_15394del (p.Met5132GlyfsTer14)
c.15315_15316del (p.Met5106GlyfsTer14)
c.12699_12700del (p.Met4234GlyfsTer14)
c.15417_15418del (p.Met5140GlyfsTer14)
c.15414_15415del (p.Met5139GlyfsTer14)
c.15336_15337del (p.Met5113GlyfsTer14)
c.15321_15322del (p.Met5108GlyfsTer14)
c.15237_15238del (p.Met5080GlyfsTer14)
c.*350_*351del (n.*350_*351del)
c.8535_8536del (p.Met2846GlyfsTer14)
c.8514_8515del (p.Met2839GlyfsTer14)
n.15412_15413del
 dbSNP gnomAD v3 gnomAD v4
5g.90810657A=CA1562911476ADGRV1c.15397A= (p.Met5133=)
c.4351A= (p.Met1451=)
n.2664A=
c.265+134448A= (n.265+134448A=)
c.1807A= (p.Met603=)
c.2380A= (p.Met794=)
n.15410A=
c.15394A= (p.Met5132=)
c.15316A= (p.Met5106=)
c.12700A= (p.Met4234=)
c.15418A= (p.Met5140=)
c.15415A= (p.Met5139=)
c.15337A= (p.Met5113=)
c.15322A= (p.Met5108=)
c.15238A= (p.Met5080=)
c.*351A= (n.*351A=)
c.8536A= (p.Met2846=)
c.8515A= (p.Met2839=)
n.15413A=
5g.90810657A>CCA360409243ADGRV1c.15397A>C (p.Met5133Leu)
c.4351A>C (p.Met1451Leu)
n.2664A>C
c.265+134448A>C (n.265+134448A>C)
c.1807A>C (p.Met603Leu)
c.2380A>C (p.Met794Leu)
n.15410A>C
c.15394A>C (p.Met5132Leu)
c.15316A>C (p.Met5106Leu)
c.12700A>C (p.Met4234Leu)
c.15418A>C (p.Met5140Leu)
c.15415A>C (p.Met5139Leu)
c.15337A>C (p.Met5113Leu)
c.15322A>C (p.Met5108Leu)
c.15238A>C (p.Met5080Leu)
c.*351A>C (n.*351A>C)
c.8536A>C (p.Met2846Leu)
c.8515A>C (p.Met2839Leu)
n.15413A>C
5g.90810657A>GCA122821670ADGRV1c.15397A>G (p.Met5133Val)
c.4351A>G (p.Met1451Val)
n.2664A>G
c.265+134448A>G (n.265+134448A>G)
c.1807A>G (p.Met603Val)
c.2380A>G (p.Met794Val)
n.15410A>G
c.15394A>G (p.Met5132Val)
c.15316A>G (p.Met5106Val)
c.12700A>G (p.Met4234Val)
c.15418A>G (p.Met5140Val)
c.15415A>G (p.Met5139Val)
c.15337A>G (p.Met5113Val)
c.15322A>G (p.Met5108Val)
c.15238A>G (p.Met5080Val)
c.*351A>G (n.*351A>G)
c.8536A>G (p.Met2846Val)
c.8515A>G (p.Met2839Val)
n.15413A>G
 dbSNP
5g.90810657A>TCA360409245ADGRV1c.15397A>T (p.Met5133Leu)
c.4351A>T (p.Met1451Leu)
n.2664A>T
c.265+134448A>T (n.265+134448A>T)
c.1807A>T (p.Met603Leu)
c.2380A>T (p.Met794Leu)
n.15410A>T
c.15394A>T (p.Met5132Leu)
c.15316A>T (p.Met5106Leu)
c.12700A>T (p.Met4234Leu)
c.15418A>T (p.Met5140Leu)
c.15415A>T (p.Met5139Leu)
c.15337A>T (p.Met5113Leu)
c.15322A>T (p.Met5108Leu)
c.15238A>T (p.Met5080Leu)
c.*351A>T (n.*351A>T)
c.8536A>T (p.Met2846Leu)
c.8515A>T (p.Met2839Leu)
n.15413A>T
5g.90810658T>ACA360409248ADGRV1c.15398T>A (p.Met5133Lys)
c.4352T>A (p.Met1451Lys)
n.2665T>A
c.265+134449T>A (n.265+134449T>A)
c.1808T>A (p.Met603Lys)
c.2381T>A (p.Met794Lys)
n.15411T>A
c.15395T>A (p.Met5132Lys)
c.15317T>A (p.Met5106Lys)
c.12701T>A (p.Met4234Lys)
c.15419T>A (p.Met5140Lys)
c.15416T>A (p.Met5139Lys)
c.15338T>A (p.Met5113Lys)
c.15323T>A (p.Met5108Lys)
c.15239T>A (p.Met5080Lys)
c.*352T>A (n.*352T>A)
c.8537T>A (p.Met2846Lys)
c.8516T>A (p.Met2839Lys)
n.15414T>A
 COSMIC
5g.90810658T>CCA360409252ADGRV1c.15398T>C (p.Met5133Thr)
c.4352T>C (p.Met1451Thr)
n.2665T>C
c.265+134449T>C (n.265+134449T>C)
c.1808T>C (p.Met603Thr)
c.2381T>C (p.Met794Thr)
n.15411T>C
c.15395T>C (p.Met5132Thr)
c.15317T>C (p.Met5106Thr)
c.12701T>C (p.Met4234Thr)
c.15419T>C (p.Met5140Thr)
c.15416T>C (p.Met5139Thr)
c.15338T>C (p.Met5113Thr)
c.15323T>C (p.Met5108Thr)
c.15239T>C (p.Met5080Thr)
c.*352T>C (n.*352T>C)
c.8537T>C (p.Met2846Thr)
c.8516T>C (p.Met2839Thr)
n.15414T>C
5g.90810658T>GCA360409249ADGRV1c.15398T>G (p.Met5133Arg)
c.4352T>G (p.Met1451Arg)
n.2665T>G
c.265+134449T>G (n.265+134449T>G)
c.1808T>G (p.Met603Arg)
c.2381T>G (p.Met794Arg)
n.15411T>G
c.15395T>G (p.Met5132Arg)
c.15317T>G (p.Met5106Arg)
c.12701T>G (p.Met4234Arg)
c.15419T>G (p.Met5140Arg)
c.15416T>G (p.Met5139Arg)
c.15338T>G (p.Met5113Arg)
c.15323T>G (p.Met5108Arg)
c.15239T>G (p.Met5080Arg)
c.*352T>G (n.*352T>G)
c.8537T>G (p.Met2846Arg)
c.8516T>G (p.Met2839Arg)
n.15414T>G
5g.90810659G>ACA360409253ADGRV1c.15399G>A (p.Met5133Ile)
c.4353G>A (p.Met1451Ile)
n.2666G>A
c.265+134450G>A (n.265+134450G>A)
c.1809G>A (p.Met603Ile)
c.2382G>A (p.Met794Ile)
n.15412G>A
c.15396G>A (p.Met5132Ile)
c.15318G>A (p.Met5106Ile)
c.12702G>A (p.Met4234Ile)
c.15420G>A (p.Met5140Ile)
c.15417G>A (p.Met5139Ile)
c.15339G>A (p.Met5113Ile)
c.15324G>A (p.Met5108Ile)
c.15240G>A (p.Met5080Ile)
c.*353G>A (n.*353G>A)
c.8538G>A (p.Met2846Ile)
c.8517G>A (p.Met2839Ile)
n.15415G>A
5g.90810659G>CCA360409254ADGRV1c.15399G>C (p.Met5133Ile)
c.4353G>C (p.Met1451Ile)
n.2666G>C
c.265+134450G>C (n.265+134450G>C)
c.1809G>C (p.Met603Ile)
c.2382G>C (p.Met794Ile)
n.15412G>C
c.15396G>C (p.Met5132Ile)
c.15318G>C (p.Met5106Ile)
c.12702G>C (p.Met4234Ile)
c.15420G>C (p.Met5140Ile)
c.15417G>C (p.Met5139Ile)
c.15339G>C (p.Met5113Ile)
c.15324G>C (p.Met5108Ile)
c.15240G>C (p.Met5080Ile)
c.*353G>C (n.*353G>C)
c.8538G>C (p.Met2846Ile)
c.8517G>C (p.Met2839Ile)
n.15415G>C
5g.90810659G>TCA360409255ADGRV1c.15399G>T (p.Met5133Ile)
c.4353G>T (p.Met1451Ile)
n.2666G>T
c.265+134450G>T (n.265+134450G>T)
c.1809G>T (p.Met603Ile)
c.2382G>T (p.Met794Ile)
n.15412G>T
c.15396G>T (p.Met5132Ile)
c.15318G>T (p.Met5106Ile)
c.12702G>T (p.Met4234Ile)
c.15420G>T (p.Met5140Ile)
c.15417G>T (p.Met5139Ile)
c.15339G>T (p.Met5113Ile)
c.15324G>T (p.Met5108Ile)
c.15240G>T (p.Met5080Ile)
c.*353G>T (n.*353G>T)
c.8538G>T (p.Met2846Ile)
c.8517G>T (p.Met2839Ile)
n.15415G>T
5g.90810660G>ACA3341913ADGRV1c.15400G>A (p.Asp5134Asn)
c.4354G>A (p.Asp1452Asn)
n.2667G>A
c.265+134451G>A (n.265+134451G>A)
c.1810G>A (p.Asp604Asn)
c.2383G>A (p.Asp795Asn)
n.15413G>A
c.15397G>A (p.Asp5133Asn)
c.15319G>A (p.Asp5107Asn)
c.12703G>A (p.Asp4235Asn)
c.15421G>A (p.Asp5141Asn)
c.15418G>A (p.Asp5140Asn)
c.15340G>A (p.Asp5114Asn)
c.15325G>A (p.Asp5109Asn)
c.15241G>A (p.Asp5081Asn)
c.*354G>A (n.*354G>A)
c.8539G>A (p.Asp2847Asn)
c.8518G>A (p.Asp2840Asn)
n.15416G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810660G>CCA360409256ADGRV1c.15400G>C (p.Asp5134His)
c.4354G>C (p.Asp1452His)
n.2667G>C
c.265+134451G>C (n.265+134451G>C)
c.1810G>C (p.Asp604His)
c.2383G>C (p.Asp795His)
n.15413G>C
c.15397G>C (p.Asp5133His)
c.15319G>C (p.Asp5107His)
c.12703G>C (p.Asp4235His)
c.15421G>C (p.Asp5141His)
c.15418G>C (p.Asp5140His)
c.15340G>C (p.Asp5114His)
c.15325G>C (p.Asp5109His)
c.15241G>C (p.Asp5081His)
c.*354G>C (n.*354G>C)
c.8539G>C (p.Asp2847His)
c.8518G>C (p.Asp2840His)
n.15416G>C
5g.90810660G=CA1562911477ADGRV1c.15400G= (p.Asp5134=)
c.4354G= (p.Asp1452=)
n.2667G=
c.265+134451G= (n.265+134451G=)
c.1810G= (p.Asp604=)
c.2383G= (p.Asp795=)
n.15413G=
c.15397G= (p.Asp5133=)
c.15319G= (p.Asp5107=)
c.12703G= (p.Asp4235=)
c.15421G= (p.Asp5141=)
c.15418G= (p.Asp5140=)
c.15340G= (p.Asp5114=)
c.15325G= (p.Asp5109=)
c.15241G= (p.Asp5081=)
c.*354G= (n.*354G=)
c.8539G= (p.Asp2847=)
c.8518G= (p.Asp2840=)
n.15416G=
5g.90810660G>TCA360409258ADGRV1c.15400G>T (p.Asp5134Tyr)
c.4354G>T (p.Asp1452Tyr)
n.2667G>T
c.265+134451G>T (n.265+134451G>T)
c.1810G>T (p.Asp604Tyr)
c.2383G>T (p.Asp795Tyr)
n.15413G>T
c.15397G>T (p.Asp5133Tyr)
c.15319G>T (p.Asp5107Tyr)
c.12703G>T (p.Asp4235Tyr)
c.15421G>T (p.Asp5141Tyr)
c.15418G>T (p.Asp5140Tyr)
c.15340G>T (p.Asp5114Tyr)
c.15325G>T (p.Asp5109Tyr)
c.15241G>T (p.Asp5081Tyr)
c.*354G>T (n.*354G>T)
c.8539G>T (p.Asp2847Tyr)
c.8518G>T (p.Asp2840Tyr)
n.15416G>T
5g.90810661A=CA1562911478ADGRV1c.15401A= (p.Asp5134=)
c.4355A= (p.Asp1452=)
n.2668A=
c.265+134452A= (n.265+134452A=)
c.1811A= (p.Asp604=)
c.2384A= (p.Asp795=)
n.15414A=
c.15398A= (p.Asp5133=)
c.15320A= (p.Asp5107=)
c.12704A= (p.Asp4235=)
c.15422A= (p.Asp5141=)
c.15419A= (p.Asp5140=)
c.15341A= (p.Asp5114=)
c.15326A= (p.Asp5109=)
c.15242A= (p.Asp5081=)
c.*355A= (n.*355A=)
c.8540A= (p.Asp2847=)
c.8519A= (p.Asp2840=)
n.15417A=
5g.90810661A>CCA360409259ADGRV1c.15401A>C (p.Asp5134Ala)
c.4355A>C (p.Asp1452Ala)
n.2668A>C
c.265+134452A>C (n.265+134452A>C)
c.1811A>C (p.Asp604Ala)
c.2384A>C (p.Asp795Ala)
n.15414A>C
c.15398A>C (p.Asp5133Ala)
c.15320A>C (p.Asp5107Ala)
c.12704A>C (p.Asp4235Ala)
c.15422A>C (p.Asp5141Ala)
c.15419A>C (p.Asp5140Ala)
c.15341A>C (p.Asp5114Ala)
c.15326A>C (p.Asp5109Ala)
c.15242A>C (p.Asp5081Ala)
c.*355A>C (n.*355A>C)
c.8540A>C (p.Asp2847Ala)
c.8519A>C (p.Asp2840Ala)
n.15417A>C
 gnomAD v4
5g.90810661A>GCA360409260ADGRV1c.15401A>G (p.Asp5134Gly)
c.4355A>G (p.Asp1452Gly)
n.2668A>G
c.265+134452A>G (n.265+134452A>G)
c.1811A>G (p.Asp604Gly)
c.2384A>G (p.Asp795Gly)
n.15414A>G
c.15398A>G (p.Asp5133Gly)
c.15320A>G (p.Asp5107Gly)
c.12704A>G (p.Asp4235Gly)
c.15422A>G (p.Asp5141Gly)
c.15419A>G (p.Asp5140Gly)
c.15341A>G (p.Asp5114Gly)
c.15326A>G (p.Asp5109Gly)
c.15242A>G (p.Asp5081Gly)
c.*355A>G (n.*355A>G)
c.8540A>G (p.Asp2847Gly)
c.8519A>G (p.Asp2840Gly)
n.15417A>G
 ClinVar dbSNP
5g.90810661A>TCA360409262ADGRV1c.15401A>T (p.Asp5134Val)
c.4355A>T (p.Asp1452Val)
n.2668A>T
c.265+134452A>T (n.265+134452A>T)
c.1811A>T (p.Asp604Val)
c.2384A>T (p.Asp795Val)
n.15414A>T
c.15398A>T (p.Asp5133Val)
c.15320A>T (p.Asp5107Val)
c.12704A>T (p.Asp4235Val)
c.15422A>T (p.Asp5141Val)
c.15419A>T (p.Asp5140Val)
c.15341A>T (p.Asp5114Val)
c.15326A>T (p.Asp5109Val)
c.15242A>T (p.Asp5081Val)
c.*355A>T (n.*355A>T)
c.8540A>T (p.Asp2847Val)
c.8519A>T (p.Asp2840Val)
n.15417A>T
5g.90810662T>ACA360409264ADGRV1c.15402T>A (p.Asp5134Glu)
c.4356T>A (p.Asp1452Glu)
n.2669T>A
c.265+134453T>A (n.265+134453T>A)
c.1812T>A (p.Asp604Glu)
c.2385T>A (p.Asp795Glu)
n.15415T>A
c.15399T>A (p.Asp5133Glu)
c.15321T>A (p.Asp5107Glu)
c.12705T>A (p.Asp4235Glu)
c.15423T>A (p.Asp5141Glu)
c.15420T>A (p.Asp5140Glu)
c.15342T>A (p.Asp5114Glu)
c.15327T>A (p.Asp5109Glu)
c.15243T>A (p.Asp5081Glu)
c.*356T>A (n.*356T>A)
c.8541T>A (p.Asp2847Glu)
c.8520T>A (p.Asp2840Glu)
n.15418T>A
5g.90810662T>CCA445468114ADGRV1c.15402T>C (p.Asp5134=)
c.4356T>C (p.Asp1452=)
n.2669T>C
c.265+134453T>C (n.265+134453T>C)
c.1812T>C (p.Asp604=)
c.2385T>C (p.Asp795=)
n.15415T>C
c.15399T>C (p.Asp5133=)
c.15321T>C (p.Asp5107=)
c.12705T>C (p.Asp4235=)
c.15423T>C (p.Asp5141=)
c.15420T>C (p.Asp5140=)
c.15342T>C (p.Asp5114=)
c.15327T>C (p.Asp5109=)
c.15243T>C (p.Asp5081=)
c.*356T>C (n.*356T>C)
c.8541T>C (p.Asp2847=)
c.8520T>C (p.Asp2840=)
n.15418T>C
5g.90810662T>GCA360409266ADGRV1c.15402T>G (p.Asp5134Glu)
c.4356T>G (p.Asp1452Glu)
n.2669T>G
c.265+134453T>G (n.265+134453T>G)
c.1812T>G (p.Asp604Glu)
c.2385T>G (p.Asp795Glu)
n.15415T>G
c.15399T>G (p.Asp5133Glu)
c.15321T>G (p.Asp5107Glu)
c.12705T>G (p.Asp4235Glu)
c.15423T>G (p.Asp5141Glu)
c.15420T>G (p.Asp5140Glu)
c.15342T>G (p.Asp5114Glu)
c.15327T>G (p.Asp5109Glu)
c.15243T>G (p.Asp5081Glu)
c.*356T>G (n.*356T>G)
c.8541T>G (p.Asp2847Glu)
c.8520T>G (p.Asp2840Glu)
n.15418T>G
5g.90810663A>CCA360409270ADGRV1c.15403A>C (p.Ile5135Leu)
c.4357A>C (p.Ile1453Leu)
n.2670A>C
c.265+134454A>C (n.265+134454A>C)
c.1813A>C (p.Ile605Leu)
c.2386A>C (p.Ile796Leu)
n.15416A>C
c.15400A>C (p.Ile5134Leu)
c.15322A>C (p.Ile5108Leu)
c.12706A>C (p.Ile4236Leu)
c.15424A>C (p.Ile5142Leu)
c.15421A>C (p.Ile5141Leu)
c.15343A>C (p.Ile5115Leu)
c.15328A>C (p.Ile5110Leu)
c.15244A>C (p.Ile5082Leu)
c.*357A>C (n.*357A>C)
c.8542A>C (p.Ile2848Leu)
c.8521A>C (p.Ile2841Leu)
n.15419A>C
5g.90810663A>GCA360409271ADGRV1c.15403A>G (p.Ile5135Val)
c.4357A>G (p.Ile1453Val)
n.2670A>G
c.265+134454A>G (n.265+134454A>G)
c.1813A>G (p.Ile605Val)
c.2386A>G (p.Ile796Val)
n.15416A>G
c.15400A>G (p.Ile5134Val)
c.15322A>G (p.Ile5108Val)
c.12706A>G (p.Ile4236Val)
c.15424A>G (p.Ile5142Val)
c.15421A>G (p.Ile5141Val)
c.15343A>G (p.Ile5115Val)
c.15328A>G (p.Ile5110Val)
c.15244A>G (p.Ile5082Val)
c.*357A>G (n.*357A>G)
c.8542A>G (p.Ile2848Val)
c.8521A>G (p.Ile2841Val)
n.15419A>G
5g.90810663A>TCA360409268ADGRV1c.15403A>T (p.Ile5135Phe)
c.4357A>T (p.Ile1453Phe)
n.2670A>T
c.265+134454A>T (n.265+134454A>T)
c.1813A>T (p.Ile605Phe)
c.2386A>T (p.Ile796Phe)
n.15416A>T
c.15400A>T (p.Ile5134Phe)
c.15322A>T (p.Ile5108Phe)
c.12706A>T (p.Ile4236Phe)
c.15424A>T (p.Ile5142Phe)
c.15421A>T (p.Ile5141Phe)
c.15343A>T (p.Ile5115Phe)
c.15328A>T (p.Ile5110Phe)
c.15244A>T (p.Ile5082Phe)
c.*357A>T (n.*357A>T)
c.8542A>T (p.Ile2848Phe)
c.8521A>T (p.Ile2841Phe)
n.15419A>T
5g.90810664T>ACA360409276ADGRV1c.15404T>A (p.Ile5135Asn)
c.4358T>A (p.Ile1453Asn)
n.2671T>A
c.265+134455T>A (n.265+134455T>A)
c.1814T>A (p.Ile605Asn)
c.2387T>A (p.Ile796Asn)
n.15417T>A
c.15401T>A (p.Ile5134Asn)
c.15323T>A (p.Ile5108Asn)
c.12707T>A (p.Ile4236Asn)
c.15425T>A (p.Ile5142Asn)
c.15422T>A (p.Ile5141Asn)
c.15344T>A (p.Ile5115Asn)
c.15329T>A (p.Ile5110Asn)
c.15245T>A (p.Ile5082Asn)
c.*358T>A (n.*358T>A)
c.8543T>A (p.Ile2848Asn)
c.8522T>A (p.Ile2841Asn)
n.15420T>A
5g.90810664T>CCA360409274ADGRV1c.15404T>C (p.Ile5135Thr)
c.4358T>C (p.Ile1453Thr)
n.2671T>C
c.265+134455T>C (n.265+134455T>C)
c.1814T>C (p.Ile605Thr)
c.2387T>C (p.Ile796Thr)
n.15417T>C
c.15401T>C (p.Ile5134Thr)
c.15323T>C (p.Ile5108Thr)
c.12707T>C (p.Ile4236Thr)
c.15425T>C (p.Ile5142Thr)
c.15422T>C (p.Ile5141Thr)
c.15344T>C (p.Ile5115Thr)
c.15329T>C (p.Ile5110Thr)
c.15245T>C (p.Ile5082Thr)
c.*358T>C (n.*358T>C)
c.8543T>C (p.Ile2848Thr)
c.8522T>C (p.Ile2841Thr)
n.15420T>C
5g.90810664T>GCA360409277ADGRV1c.15404T>G (p.Ile5135Ser)
c.4358T>G (p.Ile1453Ser)
n.2671T>G
c.265+134455T>G (n.265+134455T>G)
c.1814T>G (p.Ile605Ser)
c.2387T>G (p.Ile796Ser)
n.15417T>G
c.15401T>G (p.Ile5134Ser)
c.15323T>G (p.Ile5108Ser)
c.12707T>G (p.Ile4236Ser)
c.15425T>G (p.Ile5142Ser)
c.15422T>G (p.Ile5141Ser)
c.15344T>G (p.Ile5115Ser)
c.15329T>G (p.Ile5110Ser)
c.15245T>G (p.Ile5082Ser)
c.*358T>G (n.*358T>G)
c.8543T>G (p.Ile2848Ser)
c.8522T>G (p.Ile2841Ser)
n.15420T>G
 dbSNP gnomAD v2 gnomAD v4
5g.90810664T=CA1562911479ADGRV1c.15404T= (p.Ile5135=)
c.4358T= (p.Ile1453=)
n.2671T=
c.265+134455T= (n.265+134455T=)
c.1814T= (p.Ile605=)
c.2387T= (p.Ile796=)
n.15417T=
c.15401T= (p.Ile5134=)
c.15323T= (p.Ile5108=)
c.12707T= (p.Ile4236=)
c.15425T= (p.Ile5142=)
c.15422T= (p.Ile5141=)
c.15344T= (p.Ile5115=)
c.15329T= (p.Ile5110=)
c.15245T= (p.Ile5082=)
c.*358T= (n.*358T=)
c.8543T= (p.Ile2848=)
c.8522T= (p.Ile2841=)
n.15420T=
5g.90810665T>ACA445468121ADGRV1c.15405T>A (p.Ile5135=)
c.4359T>A (p.Ile1453=)
n.2672T>A
c.265+134456T>A (n.265+134456T>A)
c.1815T>A (p.Ile605=)
c.2388T>A (p.Ile796=)
n.15418T>A
c.15402T>A (p.Ile5134=)
c.15324T>A (p.Ile5108=)
c.12708T>A (p.Ile4236=)
c.15426T>A (p.Ile5142=)
c.15423T>A (p.Ile5141=)
c.15345T>A (p.Ile5115=)
c.15330T>A (p.Ile5110=)
c.15246T>A (p.Ile5082=)
c.*359T>A (n.*359T>A)
c.8544T>A (p.Ile2848=)
c.8523T>A (p.Ile2841=)
n.15421T>A
5g.90810665T>CCA445468122ADGRV1c.15405T>C (p.Ile5135=)
c.4359T>C (p.Ile1453=)
n.2672T>C
c.265+134456T>C (n.265+134456T>C)
c.1815T>C (p.Ile605=)
c.2388T>C (p.Ile796=)
n.15418T>C
c.15402T>C (p.Ile5134=)
c.15324T>C (p.Ile5108=)
c.12708T>C (p.Ile4236=)
c.15426T>C (p.Ile5142=)
c.15423T>C (p.Ile5141=)
c.15345T>C (p.Ile5115=)
c.15330T>C (p.Ile5110=)
c.15246T>C (p.Ile5082=)
c.*359T>C (n.*359T>C)
c.8544T>C (p.Ile2848=)
c.8523T>C (p.Ile2841=)
n.15421T>C
5g.90810665T>GCA360409280ADGRV1c.15405T>G (p.Ile5135Met)
c.4359T>G (p.Ile1453Met)
n.2672T>G
c.265+134456T>G (n.265+134456T>G)
c.1815T>G (p.Ile605Met)
c.2388T>G (p.Ile796Met)
n.15418T>G
c.15402T>G (p.Ile5134Met)
c.15324T>G (p.Ile5108Met)
c.12708T>G (p.Ile4236Met)
c.15426T>G (p.Ile5142Met)
c.15423T>G (p.Ile5141Met)
c.15345T>G (p.Ile5115Met)
c.15330T>G (p.Ile5110Met)
c.15246T>G (p.Ile5082Met)
c.*359T>G (n.*359T>G)
c.8544T>G (p.Ile2848Met)
c.8523T>G (p.Ile2841Met)
n.15421T>G
5g.90810666T>ACA360409288ADGRV1c.15406T>A (p.Ser5136Thr)
c.4360T>A (p.Ser1454Thr)
n.2673T>A
c.265+134457T>A (n.265+134457T>A)
c.1816T>A (p.Ser606Thr)
c.2389T>A (p.Ser797Thr)
n.15419T>A
c.15403T>A (p.Ser5135Thr)
c.15325T>A (p.Ser5109Thr)
c.12709T>A (p.Ser4237Thr)
c.15427T>A (p.Ser5143Thr)
c.15424T>A (p.Ser5142Thr)
c.15346T>A (p.Ser5116Thr)
c.15331T>A (p.Ser5111Thr)
c.15247T>A (p.Ser5083Thr)
c.*360T>A (n.*360T>A)
c.8545T>A (p.Ser2849Thr)
c.8524T>A (p.Ser2842Thr)
n.15422T>A
5g.90810666T>CCA360409285ADGRV1c.15406T>C (p.Ser5136Pro)
c.4360T>C (p.Ser1454Pro)
n.2673T>C
c.265+134457T>C (n.265+134457T>C)
c.1816T>C (p.Ser606Pro)
c.2389T>C (p.Ser797Pro)
n.15419T>C
c.15403T>C (p.Ser5135Pro)
c.15325T>C (p.Ser5109Pro)
c.12709T>C (p.Ser4237Pro)
c.15427T>C (p.Ser5143Pro)
c.15424T>C (p.Ser5142Pro)
c.15346T>C (p.Ser5116Pro)
c.15331T>C (p.Ser5111Pro)
c.15247T>C (p.Ser5083Pro)
c.*360T>C (n.*360T>C)
c.8545T>C (p.Ser2849Pro)
c.8524T>C (p.Ser2842Pro)
n.15422T>C
5g.90810666T>GCA360409287ADGRV1c.15406T>G (p.Ser5136Ala)
c.4360T>G (p.Ser1454Ala)
n.2673T>G
c.265+134457T>G (n.265+134457T>G)
c.1816T>G (p.Ser606Ala)
c.2389T>G (p.Ser797Ala)
n.15419T>G
c.15403T>G (p.Ser5135Ala)
c.15325T>G (p.Ser5109Ala)
c.12709T>G (p.Ser4237Ala)
c.15427T>G (p.Ser5143Ala)
c.15424T>G (p.Ser5142Ala)
c.15346T>G (p.Ser5116Ala)
c.15331T>G (p.Ser5111Ala)
c.15247T>G (p.Ser5083Ala)
c.*360T>G (n.*360T>G)
c.8545T>G (p.Ser2849Ala)
c.8524T>G (p.Ser2842Ala)
n.15422T>G
5g.90810667C>ACA360409289ADGRV1c.15407C>A (p.Ser5136Tyr)
c.4361C>A (p.Ser1454Tyr)
n.2674C>A
c.265+134458C>A (n.265+134458C>A)
c.1817C>A (p.Ser606Tyr)
c.2390C>A (p.Ser797Tyr)
n.15420C>A
c.15404C>A (p.Ser5135Tyr)
c.15326C>A (p.Ser5109Tyr)
c.12710C>A (p.Ser4237Tyr)
c.15428C>A (p.Ser5143Tyr)
c.15425C>A (p.Ser5142Tyr)
c.15347C>A (p.Ser5116Tyr)
c.15332C>A (p.Ser5111Tyr)
c.15248C>A (p.Ser5083Tyr)
c.*361C>A (n.*361C>A)
c.8546C>A (p.Ser2849Tyr)
c.8525C>A (p.Ser2842Tyr)
n.15423C>A
5g.90810667C=CA1562911480ADGRV1c.15407C= (p.Ser5136=)
c.4361C= (p.Ser1454=)
n.2674C=
c.265+134458C= (n.265+134458C=)
c.1817C= (p.Ser606=)
c.2390C= (p.Ser797=)
n.15420C=
c.15404C= (p.Ser5135=)
c.15326C= (p.Ser5109=)
c.12710C= (p.Ser4237=)
c.15428C= (p.Ser5143=)
c.15425C= (p.Ser5142=)
c.15347C= (p.Ser5116=)
c.15332C= (p.Ser5111=)
c.15248C= (p.Ser5083=)
c.*361C= (n.*361C=)
c.8546C= (p.Ser2849=)
c.8525C= (p.Ser2842=)
n.15423C=
5g.90810667C>GCA360409290ADGRV1c.15407C>G (p.Ser5136Cys)
c.4361C>G (p.Ser1454Cys)
n.2674C>G
c.265+134458C>G (n.265+134458C>G)
c.1817C>G (p.Ser606Cys)
c.2390C>G (p.Ser797Cys)
n.15420C>G
c.15404C>G (p.Ser5135Cys)
c.15326C>G (p.Ser5109Cys)
c.12710C>G (p.Ser4237Cys)
c.15428C>G (p.Ser5143Cys)
c.15425C>G (p.Ser5142Cys)
c.15347C>G (p.Ser5116Cys)
c.15332C>G (p.Ser5111Cys)
c.15248C>G (p.Ser5083Cys)
c.*361C>G (n.*361C>G)
c.8546C>G (p.Ser2849Cys)
c.8525C>G (p.Ser2842Cys)
n.15423C>G
 COSMIC
5g.90810667C>TCA122821679ADGRV1c.15407C>T (p.Ser5136Phe)
c.4361C>T (p.Ser1454Phe)
n.2674C>T
c.265+134458C>T (n.265+134458C>T)
c.1817C>T (p.Ser606Phe)
c.2390C>T (p.Ser797Phe)
n.15420C>T
c.15404C>T (p.Ser5135Phe)
c.15326C>T (p.Ser5109Phe)
c.12710C>T (p.Ser4237Phe)
c.15428C>T (p.Ser5143Phe)
c.15425C>T (p.Ser5142Phe)
c.15347C>T (p.Ser5116Phe)
c.15332C>T (p.Ser5111Phe)
c.15248C>T (p.Ser5083Phe)
c.*361C>T (n.*361C>T)
c.8546C>T (p.Ser2849Phe)
c.8525C>T (p.Ser2842Phe)
n.15423C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90810668C>ACA445468131ADGRV1c.15408C>A (p.Ser5136=)
c.4362C>A (p.Ser1454=)
n.2675C>A
c.265+134459C>A (n.265+134459C>A)
c.1818C>A (p.Ser606=)
c.2391C>A (p.Ser797=)
n.15421C>A
c.15405C>A (p.Ser5135=)
c.15327C>A (p.Ser5109=)
c.12711C>A (p.Ser4237=)
c.15429C>A (p.Ser5143=)
c.15426C>A (p.Ser5142=)
c.15348C>A (p.Ser5116=)
c.15333C>A (p.Ser5111=)
c.15249C>A (p.Ser5083=)
c.*362C>A (n.*362C>A)
c.8547C>A (p.Ser2849=)
c.8526C>A (p.Ser2842=)
n.15424C>A
5g.90810668C>GCA445468132ADGRV1c.15408C>G (p.Ser5136=)
c.4362C>G (p.Ser1454=)
n.2675C>G
c.265+134459C>G (n.265+134459C>G)
c.1818C>G (p.Ser606=)
c.2391C>G (p.Ser797=)
n.15421C>G
c.15405C>G (p.Ser5135=)
c.15327C>G (p.Ser5109=)
c.12711C>G (p.Ser4237=)
c.15429C>G (p.Ser5143=)
c.15426C>G (p.Ser5142=)
c.15348C>G (p.Ser5116=)
c.15333C>G (p.Ser5111=)
c.15249C>G (p.Ser5083=)
c.*362C>G (n.*362C>G)
c.8547C>G (p.Ser2849=)
c.8526C>G (p.Ser2842=)
n.15424C>G
5g.90810668C>TCA445468133ADGRV1c.15408C>T (p.Ser5136=)
c.4362C>T (p.Ser1454=)
n.2675C>T
c.265+134459C>T (n.265+134459C>T)
c.1818C>T (p.Ser606=)
c.2391C>T (p.Ser797=)
n.15421C>T
c.15405C>T (p.Ser5135=)
c.15327C>T (p.Ser5109=)
c.12711C>T (p.Ser4237=)
c.15429C>T (p.Ser5143=)
c.15426C>T (p.Ser5142=)
c.15348C>T (p.Ser5116=)
c.15333C>T (p.Ser5111=)
c.15249C>T (p.Ser5083=)
c.*362C>T (n.*362C>T)
c.8547C>T (p.Ser2849=)
c.8526C>T (p.Ser2842=)
n.15424C>T
5g.90810669T>ACA360409294ADGRV1c.15409T>A (p.Phe5137Ile)
c.4363T>A (p.Phe1455Ile)
n.2676T>A
c.265+134460T>A (n.265+134460T>A)
c.1819T>A (p.Phe607Ile)
c.2392T>A (p.Phe798Ile)
n.15422T>A
c.15406T>A (p.Phe5136Ile)
c.15328T>A (p.Phe5110Ile)
c.12712T>A (p.Phe4238Ile)
c.15430T>A (p.Phe5144Ile)
c.15427T>A (p.Phe5143Ile)
c.15349T>A (p.Phe5117Ile)
c.15334T>A (p.Phe5112Ile)
c.15250T>A (p.Phe5084Ile)
c.*363T>A (n.*363T>A)
c.8548T>A (p.Phe2850Ile)
c.8527T>A (p.Phe2843Ile)
n.15425T>A
5g.90810669T>CCA360409298ADGRV1c.15409T>C (p.Phe5137Leu)
c.4363T>C (p.Phe1455Leu)
n.2676T>C
c.265+134460T>C (n.265+134460T>C)
c.1819T>C (p.Phe607Leu)
c.2392T>C (p.Phe798Leu)
n.15422T>C
c.15406T>C (p.Phe5136Leu)
c.15328T>C (p.Phe5110Leu)
c.12712T>C (p.Phe4238Leu)
c.15430T>C (p.Phe5144Leu)
c.15427T>C (p.Phe5143Leu)
c.15349T>C (p.Phe5117Leu)
c.15334T>C (p.Phe5112Leu)
c.15250T>C (p.Phe5084Leu)
c.*363T>C (n.*363T>C)
c.8548T>C (p.Phe2850Leu)
c.8527T>C (p.Phe2843Leu)
n.15425T>C
5g.90810669T>GCA360409299ADGRV1c.15409T>G (p.Phe5137Val)
c.4363T>G (p.Phe1455Val)
n.2676T>G
c.265+134460T>G (n.265+134460T>G)
c.1819T>G (p.Phe607Val)
c.2392T>G (p.Phe798Val)
n.15422T>G
c.15406T>G (p.Phe5136Val)
c.15328T>G (p.Phe5110Val)
c.12712T>G (p.Phe4238Val)
c.15430T>G (p.Phe5144Val)
c.15427T>G (p.Phe5143Val)
c.15349T>G (p.Phe5117Val)
c.15334T>G (p.Phe5112Val)
c.15250T>G (p.Phe5084Val)
c.*363T>G (n.*363T>G)
c.8548T>G (p.Phe2850Val)
c.8527T>G (p.Phe2843Val)
n.15425T>G
5g.90810670T>ACA360409301ADGRV1c.15410T>A (p.Phe5137Tyr)
c.4364T>A (p.Phe1455Tyr)
n.2677T>A
c.265+134461T>A (n.265+134461T>A)
c.1820T>A (p.Phe607Tyr)
c.2393T>A (p.Phe798Tyr)
n.15423T>A
c.15407T>A (p.Phe5136Tyr)
c.15329T>A (p.Phe5110Tyr)
c.12713T>A (p.Phe4238Tyr)
c.15431T>A (p.Phe5144Tyr)
c.15428T>A (p.Phe5143Tyr)
c.15350T>A (p.Phe5117Tyr)
c.15335T>A (p.Phe5112Tyr)
c.15251T>A (p.Phe5084Tyr)
c.*364T>A (n.*364T>A)
c.8549T>A (p.Phe2850Tyr)
c.8528T>A (p.Phe2843Tyr)
n.15426T>A
5g.90810670T>CCA360409303ADGRV1c.15410T>C (p.Phe5137Ser)
c.4364T>C (p.Phe1455Ser)
n.2677T>C
c.265+134461T>C (n.265+134461T>C)
c.1820T>C (p.Phe607Ser)
c.2393T>C (p.Phe798Ser)
n.15423T>C
c.15407T>C (p.Phe5136Ser)
c.15329T>C (p.Phe5110Ser)
c.12713T>C (p.Phe4238Ser)
c.15431T>C (p.Phe5144Ser)
c.15428T>C (p.Phe5143Ser)
c.15350T>C (p.Phe5117Ser)
c.15335T>C (p.Phe5112Ser)
c.15251T>C (p.Phe5084Ser)
c.*364T>C (n.*364T>C)
c.8549T>C (p.Phe2850Ser)
c.8528T>C (p.Phe2843Ser)
n.15426T>C
5g.90810670T>GCA360409304ADGRV1c.15410T>G (p.Phe5137Cys)
c.4364T>G (p.Phe1455Cys)
n.2677T>G
c.265+134461T>G (n.265+134461T>G)
c.1820T>G (p.Phe607Cys)
c.2393T>G (p.Phe798Cys)
n.15423T>G
c.15407T>G (p.Phe5136Cys)
c.15329T>G (p.Phe5110Cys)
c.12713T>G (p.Phe4238Cys)
c.15431T>G (p.Phe5144Cys)
c.15428T>G (p.Phe5143Cys)
c.15350T>G (p.Phe5117Cys)
c.15335T>G (p.Phe5112Cys)
c.15251T>G (p.Phe5084Cys)
c.*364T>G (n.*364T>G)
c.8549T>G (p.Phe2850Cys)
c.8528T>G (p.Phe2843Cys)
n.15426T>G
5g.90810670_90810671delinsTCCA1562911481ADGRV1c.15410_15411delinsTC (p.Phe5137=)
c.4364_4365delinsTC (p.Phe1455=)
n.2677_2678delinsTC
c.265+134461_265+134462delinsTC (n.265+134461_265+134462delinsTC)
c.1820_1821delinsTC (p.Phe607=)
c.2393_2394delinsTC (p.Phe798=)
n.15423_15424delinsTC
c.15407_15408delinsTC (p.Phe5136=)
c.15329_15330delinsTC (p.Phe5110=)
c.12713_12714delinsTC (p.Phe4238=)
c.15431_15432delinsTC (p.Phe5144=)
c.15428_15429delinsTC (p.Phe5143=)
c.15350_15351delinsTC (p.Phe5117=)
c.15335_15336delinsTC (p.Phe5112=)
c.15251_15252delinsTC (p.Phe5084=)
c.*364_*365delinsTC (n.*364_*365delinsTC)
c.8549_8550delinsTC (p.Phe2850=)
c.8528_8529delinsTC (p.Phe2843=)
n.15426_15427delinsTC
5g.90810671C>ACA360409305ADGRV1c.15411C>A (p.Phe5137Leu)
c.4365C>A (p.Phe1455Leu)
n.2678C>A
c.265+134462C>A (n.265+134462C>A)
c.1821C>A (p.Phe607Leu)
c.2394C>A (p.Phe798Leu)
n.15424C>A
c.15408C>A (p.Phe5136Leu)
c.15330C>A (p.Phe5110Leu)
c.12714C>A (p.Phe4238Leu)
c.15432C>A (p.Phe5144Leu)
c.15429C>A (p.Phe5143Leu)
c.15351C>A (p.Phe5117Leu)
c.15336C>A (p.Phe5112Leu)
c.15252C>A (p.Phe5084Leu)
c.*365C>A (n.*365C>A)
c.8550C>A (p.Phe2850Leu)
c.8529C>A (p.Phe2843Leu)
n.15427C>A
5g.90810671C>GCA360409307ADGRV1c.15411C>G (p.Phe5137Leu)
c.4365C>G (p.Phe1455Leu)
n.2678C>G
c.265+134462C>G (n.265+134462C>G)
c.1821C>G (p.Phe607Leu)
c.2394C>G (p.Phe798Leu)
n.15424C>G
c.15408C>G (p.Phe5136Leu)
c.15330C>G (p.Phe5110Leu)
c.12714C>G (p.Phe4238Leu)
c.15432C>G (p.Phe5144Leu)
c.15429C>G (p.Phe5143Leu)
c.15351C>G (p.Phe5117Leu)
c.15336C>G (p.Phe5112Leu)
c.15252C>G (p.Phe5084Leu)
c.*365C>G (n.*365C>G)
c.8550C>G (p.Phe2850Leu)
c.8529C>G (p.Phe2843Leu)
n.15427C>G
5g.90810671C>TCA445468138ADGRV1c.15411C>T (p.Phe5137=)
c.4365C>T (p.Phe1455=)
n.2678C>T
c.265+134462C>T (n.265+134462C>T)
c.1821C>T (p.Phe607=)
c.2394C>T (p.Phe798=)
n.15424C>T
c.15408C>T (p.Phe5136=)
c.15330C>T (p.Phe5110=)
c.12714C>T (p.Phe4238=)
c.15432C>T (p.Phe5144=)
c.15429C>T (p.Phe5143=)
c.15351C>T (p.Phe5117=)
c.15336C>T (p.Phe5112=)
c.15252C>T (p.Phe5084=)
c.*365C>T (n.*365C>T)
c.8550C>T (p.Phe2850=)
c.8529C>T (p.Phe2843=)
n.15427C>T
 COSMIC
5g.90810674delCA815381616ADGRV1c.15414del (p.Glu5139ArgfsTer6)
c.4368del (p.Glu1457ArgfsTer6)
n.2681del
c.265+134465del (n.265+134465del)
c.1824del (p.Glu609ArgfsTer6)
c.2397del (p.Glu800ArgfsTer6)
n.15427del
c.15411del (p.Glu5138ArgfsTer6)
c.15333del (p.Glu5112ArgfsTer6)
c.12717del (p.Glu4240ArgfsTer6)
c.15435del (p.Glu5146ArgfsTer6)
c.15432del (p.Glu5145ArgfsTer6)
c.15354del (p.Glu5119ArgfsTer6)
c.15339del (p.Glu5114ArgfsTer6)
c.15255del (p.Glu5086ArgfsTer6)
c.*368del (n.*368del)
c.8553del (p.Glu2852ArgfsTer6)
c.8532del (p.Glu2845ArgfsTer6)
n.15430del
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90810672C>ACA360409309ADGRV1c.15412C>A (p.Pro5138Thr)
c.4366C>A (p.Pro1456Thr)
n.2679C>A
c.265+134463C>A (n.265+134463C>A)
c.1822C>A (p.Pro608Thr)
c.2395C>A (p.Pro799Thr)
n.15425C>A
c.15409C>A (p.Pro5137Thr)
c.15331C>A (p.Pro5111Thr)
c.12715C>A (p.Pro4239Thr)
c.15433C>A (p.Pro5145Thr)
c.15430C>A (p.Pro5144Thr)
c.15352C>A (p.Pro5118Thr)
c.15337C>A (p.Pro5113Thr)
c.15253C>A (p.Pro5085Thr)
c.*366C>A (n.*366C>A)
c.8551C>A (p.Pro2851Thr)
c.8530C>A (p.Pro2844Thr)
n.15428C>A
 dbSNP
5g.90810672C=CA1562911482ADGRV1c.15412C= (p.Pro5138=)
c.4366C= (p.Pro1456=)
n.2679C=
c.265+134463C= (n.265+134463C=)
c.1822C= (p.Pro608=)
c.2395C= (p.Pro799=)
n.15425C=
c.15409C= (p.Pro5137=)
c.15331C= (p.Pro5111=)
c.12715C= (p.Pro4239=)
c.15433C= (p.Pro5145=)
c.15430C= (p.Pro5144=)
c.15352C= (p.Pro5118=)
c.15337C= (p.Pro5113=)
c.15253C= (p.Pro5085=)
c.*366C= (n.*366C=)
c.8551C= (p.Pro2851=)
c.8530C= (p.Pro2844=)
n.15428C=
5g.90810672C>GCA360409313ADGRV1c.15412C>G (p.Pro5138Ala)
c.4366C>G (p.Pro1456Ala)
n.2679C>G
c.265+134463C>G (n.265+134463C>G)
c.1822C>G (p.Pro608Ala)
c.2395C>G (p.Pro799Ala)
n.15425C>G
c.15409C>G (p.Pro5137Ala)
c.15331C>G (p.Pro5111Ala)
c.12715C>G (p.Pro4239Ala)
c.15433C>G (p.Pro5145Ala)
c.15430C>G (p.Pro5144Ala)
c.15352C>G (p.Pro5118Ala)
c.15337C>G (p.Pro5113Ala)
c.15253C>G (p.Pro5085Ala)
c.*366C>G (n.*366C>G)
c.8551C>G (p.Pro2851Ala)
c.8530C>G (p.Pro2844Ala)
n.15428C>G
5g.90810672C>TCA360409311ADGRV1c.15412C>T (p.Pro5138Ser)
c.4366C>T (p.Pro1456Ser)
n.2679C>T
c.265+134463C>T (n.265+134463C>T)
c.1822C>T (p.Pro608Ser)
c.2395C>T (p.Pro799Ser)
n.15425C>T
c.15409C>T (p.Pro5137Ser)
c.15331C>T (p.Pro5111Ser)
c.12715C>T (p.Pro4239Ser)
c.15433C>T (p.Pro5145Ser)
c.15430C>T (p.Pro5144Ser)
c.15352C>T (p.Pro5118Ser)
c.15337C>T (p.Pro5113Ser)
c.15253C>T (p.Pro5085Ser)
c.*366C>T (n.*366C>T)
c.8551C>T (p.Pro2851Ser)
c.8530C>T (p.Pro2844Ser)
n.15428C>T
 dbSNP
5g.90810673C>ACA360409314ADGRV1c.15413C>A (p.Pro5138His)
c.4367C>A (p.Pro1456His)
n.2680C>A
c.265+134464C>A (n.265+134464C>A)
c.1823C>A (p.Pro608His)
c.2396C>A (p.Pro799His)
n.15426C>A
c.15410C>A (p.Pro5137His)
c.15332C>A (p.Pro5111His)
c.12716C>A (p.Pro4239His)
c.15434C>A (p.Pro5145His)
c.15431C>A (p.Pro5144His)
c.15353C>A (p.Pro5118His)
c.15338C>A (p.Pro5113His)
c.15254C>A (p.Pro5085His)
c.*367C>A (n.*367C>A)
c.8552C>A (p.Pro2851His)
c.8531C>A (p.Pro2844His)
n.15429C>A
5g.90810673C>GCA360409315ADGRV1c.15413C>G (p.Pro5138Arg)
c.4367C>G (p.Pro1456Arg)
n.2680C>G
c.265+134464C>G (n.265+134464C>G)
c.1823C>G (p.Pro608Arg)
c.2396C>G (p.Pro799Arg)
n.15426C>G
c.15410C>G (p.Pro5137Arg)
c.15332C>G (p.Pro5111Arg)
c.12716C>G (p.Pro4239Arg)
c.15434C>G (p.Pro5145Arg)
c.15431C>G (p.Pro5144Arg)
c.15353C>G (p.Pro5118Arg)
c.15338C>G (p.Pro5113Arg)
c.15254C>G (p.Pro5085Arg)
c.*367C>G (n.*367C>G)
c.8552C>G (p.Pro2851Arg)
c.8531C>G (p.Pro2844Arg)
n.15429C>G
5g.90810673C>TCA360409316ADGRV1c.15413C>T (p.Pro5138Leu)
c.4367C>T (p.Pro1456Leu)
n.2680C>T
c.265+134464C>T (n.265+134464C>T)
c.1823C>T (p.Pro608Leu)
c.2396C>T (p.Pro799Leu)
n.15426C>T
c.15410C>T (p.Pro5137Leu)
c.15332C>T (p.Pro5111Leu)
c.12716C>T (p.Pro4239Leu)
c.15434C>T (p.Pro5145Leu)
c.15431C>T (p.Pro5144Leu)
c.15353C>T (p.Pro5118Leu)
c.15338C>T (p.Pro5113Leu)
c.15254C>T (p.Pro5085Leu)
c.*367C>T (n.*367C>T)
c.8552C>T (p.Pro2851Leu)
c.8531C>T (p.Pro2844Leu)
n.15429C>T
5g.90810674C>ACA445468146ADGRV1c.15414C>A (p.Pro5138=)
c.4368C>A (p.Pro1456=)
n.2681C>A
c.265+134465C>A (n.265+134465C>A)
c.1824C>A (p.Pro608=)
c.2397C>A (p.Pro799=)
n.15427C>A
c.15411C>A (p.Pro5137=)
c.15333C>A (p.Pro5111=)
c.12717C>A (p.Pro4239=)
c.15435C>A (p.Pro5145=)
c.15432C>A (p.Pro5144=)
c.15354C>A (p.Pro5118=)
c.15339C>A (p.Pro5113=)
c.15255C>A (p.Pro5085=)
c.*368C>A (n.*368C>A)
c.8553C>A (p.Pro2851=)
c.8532C>A (p.Pro2844=)
n.15430C>A
5g.90810674C=CA1562911483ADGRV1c.15414C= (p.Pro5138=)
c.4368C= (p.Pro1456=)
n.2681C=
c.265+134465C= (n.265+134465C=)
c.1824C= (p.Pro608=)
c.2397C= (p.Pro799=)
n.15427C=
c.15411C= (p.Pro5137=)
c.15333C= (p.Pro5111=)
c.12717C= (p.Pro4239=)
c.15435C= (p.Pro5145=)
c.15432C= (p.Pro5144=)
c.15354C= (p.Pro5118=)
c.15339C= (p.Pro5113=)
c.15255C= (p.Pro5085=)
c.*368C= (n.*368C=)
c.8553C= (p.Pro2851=)
c.8532C= (p.Pro2844=)
n.15430C=
5g.90810674C>GCA445468142ADGRV1c.15414C>G (p.Pro5138=)
c.4368C>G (p.Pro1456=)
n.2681C>G
c.265+134465C>G (n.265+134465C>G)
c.1824C>G (p.Pro608=)
c.2397C>G (p.Pro799=)
n.15427C>G
c.15411C>G (p.Pro5137=)
c.15333C>G (p.Pro5111=)
c.12717C>G (p.Pro4239=)
c.15435C>G (p.Pro5145=)
c.15432C>G (p.Pro5144=)
c.15354C>G (p.Pro5118=)
c.15339C>G (p.Pro5113=)
c.15255C>G (p.Pro5085=)
c.*368C>G (n.*368C>G)
c.8553C>G (p.Pro2851=)
c.8532C>G (p.Pro2844=)
n.15430C>G
5g.90810674C>TCA3341914ADGRV1c.15414C>T (p.Pro5138=)
c.4368C>T (p.Pro1456=)
n.2681C>T
c.265+134465C>T (n.265+134465C>T)
c.1824C>T (p.Pro608=)
c.2397C>T (p.Pro799=)
n.15427C>T
c.15411C>T (p.Pro5137=)
c.15333C>T (p.Pro5111=)
c.12717C>T (p.Pro4239=)
c.15435C>T (p.Pro5145=)
c.15432C>T (p.Pro5144=)
c.15354C>T (p.Pro5118=)
c.15339C>T (p.Pro5113=)
c.15255C>T (p.Pro5085=)
c.*368C>T (n.*368C>T)
c.8553C>T (p.Pro2851=)
c.8532C>T (p.Pro2844=)
n.15430C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810675G>ACA3341915ADGRV1c.15415G>A (p.Glu5139Lys)
c.4369G>A (p.Glu1457Lys)
n.2682G>A
c.265+134466G>A (n.265+134466G>A)
c.1825G>A (p.Glu609Lys)
c.2398G>A (p.Glu800Lys)
n.15428G>A
c.15412G>A (p.Glu5138Lys)
c.15334G>A (p.Glu5112Lys)
c.12718G>A (p.Glu4240Lys)
c.15436G>A (p.Glu5146Lys)
c.15433G>A (p.Glu5145Lys)
c.15355G>A (p.Glu5119Lys)
c.15340G>A (p.Glu5114Lys)
c.15256G>A (p.Glu5086Lys)
c.*369G>A (n.*369G>A)
c.8554G>A (p.Glu2852Lys)
c.8533G>A (p.Glu2845Lys)
n.15431G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90810675G>CCA3341916ADGRV1c.15415G>C (p.Glu5139Gln)
c.4369G>C (p.Glu1457Gln)
n.2682G>C
c.265+134466G>C (n.265+134466G>C)
c.1825G>C (p.Glu609Gln)
c.2398G>C (p.Glu800Gln)
n.15428G>C
c.15412G>C (p.Glu5138Gln)
c.15334G>C (p.Glu5112Gln)
c.12718G>C (p.Glu4240Gln)
c.15436G>C (p.Glu5146Gln)
c.15433G>C (p.Glu5145Gln)
c.15355G>C (p.Glu5119Gln)
c.15340G>C (p.Glu5114Gln)
c.15256G>C (p.Glu5086Gln)
c.*369G>C (n.*369G>C)
c.8554G>C (p.Glu2852Gln)
c.8533G>C (p.Glu2845Gln)
n.15431G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810675G=CA1562911484ADGRV1c.15415G= (p.Glu5139=)
c.4369G= (p.Glu1457=)
n.2682G=
c.265+134466G= (n.265+134466G=)
c.1825G= (p.Glu609=)
c.2398G= (p.Glu800=)
n.15428G=
c.15412G= (p.Glu5138=)
c.15334G= (p.Glu5112=)
c.12718G= (p.Glu4240=)
c.15436G= (p.Glu5146=)
c.15433G= (p.Glu5145=)
c.15355G= (p.Glu5119=)
c.15340G= (p.Glu5114=)
c.15256G= (p.Glu5086=)
c.*369G= (n.*369G=)
c.8554G= (p.Glu2852=)
c.8533G= (p.Glu2845=)
n.15431G=
5g.90810675G>TCA360409317ADGRV1c.15415G>T (p.Glu5139Ter)
c.4369G>T (p.Glu1457Ter)
n.2682G>T
c.265+134466G>T (n.265+134466G>T)
c.1825G>T (p.Glu609Ter)
c.2398G>T (p.Glu800Ter)
n.15428G>T
c.15412G>T (p.Glu5138Ter)
c.15334G>T (p.Glu5112Ter)
c.12718G>T (p.Glu4240Ter)
c.15436G>T (p.Glu5146Ter)
c.15433G>T (p.Glu5145Ter)
c.15355G>T (p.Glu5119Ter)
c.15340G>T (p.Glu5114Ter)
c.15256G>T (p.Glu5086Ter)
c.*369G>T (n.*369G>T)
c.8554G>T (p.Glu2852Ter)
c.8533G>T (p.Glu2845Ter)
n.15431G>T
5g.90810676A>CCA360409318ADGRV1c.15416A>C (p.Glu5139Ala)
c.4370A>C (p.Glu1457Ala)
n.2683A>C
c.265+134467A>C (n.265+134467A>C)
c.1826A>C (p.Glu609Ala)
c.2399A>C (p.Glu800Ala)
n.15429A>C
c.15413A>C (p.Glu5138Ala)
c.15335A>C (p.Glu5112Ala)
c.12719A>C (p.Glu4240Ala)
c.15437A>C (p.Glu5146Ala)
c.15434A>C (p.Glu5145Ala)
c.15356A>C (p.Glu5119Ala)
c.15341A>C (p.Glu5114Ala)
c.15257A>C (p.Glu5086Ala)
c.*370A>C (n.*370A>C)
c.8555A>C (p.Glu2852Ala)
c.8534A>C (p.Glu2845Ala)
n.15432A>C
5g.90810676A>GCA360409319ADGRV1c.15416A>G (p.Glu5139Gly)
c.4370A>G (p.Glu1457Gly)
n.2683A>G
c.265+134467A>G (n.265+134467A>G)
c.1826A>G (p.Glu609Gly)
c.2399A>G (p.Glu800Gly)
n.15429A>G
c.15413A>G (p.Glu5138Gly)
c.15335A>G (p.Glu5112Gly)
c.12719A>G (p.Glu4240Gly)
c.15437A>G (p.Glu5146Gly)
c.15434A>G (p.Glu5145Gly)
c.15356A>G (p.Glu5119Gly)
c.15341A>G (p.Glu5114Gly)
c.15257A>G (p.Glu5086Gly)
c.*370A>G (n.*370A>G)
c.8555A>G (p.Glu2852Gly)
c.8534A>G (p.Glu2845Gly)
n.15432A>G
 ClinVar gnomAD v4
5g.90810676A>TCA360409321ADGRV1c.15416A>T (p.Glu5139Val)
c.4370A>T (p.Glu1457Val)
n.2683A>T
c.265+134467A>T (n.265+134467A>T)
c.1826A>T (p.Glu609Val)
c.2399A>T (p.Glu800Val)
n.15429A>T
c.15413A>T (p.Glu5138Val)
c.15335A>T (p.Glu5112Val)
c.12719A>T (p.Glu4240Val)
c.15437A>T (p.Glu5146Val)
c.15434A>T (p.Glu5145Val)
c.15356A>T (p.Glu5119Val)
c.15341A>T (p.Glu5114Val)
c.15257A>T (p.Glu5086Val)
c.*370A>T (n.*370A>T)
c.8555A>T (p.Glu2852Val)
c.8534A>T (p.Glu2845Val)
n.15432A>T
5g.90810677G>ACA445468151ADGRV1c.15417G>A (p.Glu5139=)
c.4371G>A (p.Glu1457=)
n.2684G>A
c.265+134468G>A (n.265+134468G>A)
c.1827G>A (p.Glu609=)
c.2400G>A (p.Glu800=)
n.15430G>A
c.15414G>A (p.Glu5138=)
c.15336G>A (p.Glu5112=)
c.12720G>A (p.Glu4240=)
c.15438G>A (p.Glu5146=)
c.15435G>A (p.Glu5145=)
c.15357G>A (p.Glu5119=)
c.15342G>A (p.Glu5114=)
c.15258G>A (p.Glu5086=)
c.*371G>A (n.*371G>A)
c.8556G>A (p.Glu2852=)
c.8535G>A (p.Glu2845=)
n.15433G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90810677G>CCA360409325ADGRV1c.15417G>C (p.Glu5139Asp)
c.4371G>C (p.Glu1457Asp)
n.2684G>C
c.265+134468G>C (n.265+134468G>C)
c.1827G>C (p.Glu609Asp)
c.2400G>C (p.Glu800Asp)
n.15430G>C
c.15414G>C (p.Glu5138Asp)
c.15336G>C (p.Glu5112Asp)
c.12720G>C (p.Glu4240Asp)
c.15438G>C (p.Glu5146Asp)
c.15435G>C (p.Glu5145Asp)
c.15357G>C (p.Glu5119Asp)
c.15342G>C (p.Glu5114Asp)
c.15258G>C (p.Glu5086Asp)
c.*371G>C (n.*371G>C)
c.8556G>C (p.Glu2852Asp)
c.8535G>C (p.Glu2845Asp)
n.15433G>C
5g.90810677G=CA1562911485ADGRV1c.15417G= (p.Glu5139=)
c.4371G= (p.Glu1457=)
n.2684G=
c.265+134468G= (n.265+134468G=)
c.1827G= (p.Glu609=)
c.2400G= (p.Glu800=)
n.15430G=
c.15414G= (p.Glu5138=)
c.15336G= (p.Glu5112=)
c.12720G= (p.Glu4240=)
c.15438G= (p.Glu5146=)
c.15435G= (p.Glu5145=)
c.15357G= (p.Glu5119=)
c.15342G= (p.Glu5114=)
c.15258G= (p.Glu5086=)
c.*371G= (n.*371G=)
c.8556G= (p.Glu2852=)
c.8535G= (p.Glu2845=)
n.15433G=
5g.90810677G>TCA360409323ADGRV1c.15417G>T (p.Glu5139Asp)
c.4371G>T (p.Glu1457Asp)
n.2684G>T
c.265+134468G>T (n.265+134468G>T)
c.1827G>T (p.Glu609Asp)
c.2400G>T (p.Glu800Asp)
n.15430G>T
c.15414G>T (p.Glu5138Asp)
c.15336G>T (p.Glu5112Asp)
c.12720G>T (p.Glu4240Asp)
c.15438G>T (p.Glu5146Asp)
c.15435G>T (p.Glu5145Asp)
c.15357G>T (p.Glu5119Asp)
c.15342G>T (p.Glu5114Asp)
c.15258G>T (p.Glu5086Asp)
c.*371G>T (n.*371G>T)
c.8556G>T (p.Glu2852Asp)
c.8535G>T (p.Glu2845Asp)
n.15433G>T
5g.90810678A=CA1562911486ADGRV1c.15418A= (p.Thr5140=)
c.4372A= (p.Thr1458=)
n.2685A=
c.265+134469A= (n.265+134469A=)
c.1828A= (p.Thr610=)
c.2401A= (p.Thr801=)
n.15431A=
c.15415A= (p.Thr5139=)
c.15337A= (p.Thr5113=)
c.12721A= (p.Thr4241=)
c.15439A= (p.Thr5147=)
c.15436A= (p.Thr5146=)
c.15358A= (p.Thr5120=)
c.15343A= (p.Thr5115=)
c.15259A= (p.Thr5087=)
c.*372A= (n.*372A=)
c.8557A= (p.Thr2853=)
c.8536A= (p.Thr2846=)
n.15434A=
5g.90810678A>CCA360409329ADGRV1c.15418A>C (p.Thr5140Pro)
c.4372A>C (p.Thr1458Pro)
n.2685A>C
c.265+134469A>C (n.265+134469A>C)
c.1828A>C (p.Thr610Pro)
c.2401A>C (p.Thr801Pro)
n.15431A>C
c.15415A>C (p.Thr5139Pro)
c.15337A>C (p.Thr5113Pro)
c.12721A>C (p.Thr4241Pro)
c.15439A>C (p.Thr5147Pro)
c.15436A>C (p.Thr5146Pro)
c.15358A>C (p.Thr5120Pro)
c.15343A>C (p.Thr5115Pro)
c.15259A>C (p.Thr5087Pro)
c.*372A>C (n.*372A>C)
c.8557A>C (p.Thr2853Pro)
c.8536A>C (p.Thr2846Pro)
n.15434A>C
5g.90810678A>GCA3341917ADGRV1c.15418A>G (p.Thr5140Ala)
c.4372A>G (p.Thr1458Ala)
n.2685A>G
c.265+134469A>G (n.265+134469A>G)
c.1828A>G (p.Thr610Ala)
c.2401A>G (p.Thr801Ala)
n.15431A>G
c.15415A>G (p.Thr5139Ala)
c.15337A>G (p.Thr5113Ala)
c.12721A>G (p.Thr4241Ala)
c.15439A>G (p.Thr5147Ala)
c.15436A>G (p.Thr5146Ala)
c.15358A>G (p.Thr5120Ala)
c.15343A>G (p.Thr5115Ala)
c.15259A>G (p.Thr5087Ala)
c.*372A>G (n.*372A>G)
c.8557A>G (p.Thr2853Ala)
c.8536A>G (p.Thr2846Ala)
n.15434A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810678A>TCA3341918ADGRV1c.15418A>T (p.Thr5140Ser)
c.4372A>T (p.Thr1458Ser)
n.2685A>T
c.265+134469A>T (n.265+134469A>T)
c.1828A>T (p.Thr610Ser)
c.2401A>T (p.Thr801Ser)
n.15431A>T
c.15415A>T (p.Thr5139Ser)
c.15337A>T (p.Thr5113Ser)
c.12721A>T (p.Thr4241Ser)
c.15439A>T (p.Thr5147Ser)
c.15436A>T (p.Thr5146Ser)
c.15358A>T (p.Thr5120Ser)
c.15343A>T (p.Thr5115Ser)
c.15259A>T (p.Thr5087Ser)
c.*372A>T (n.*372A>T)
c.8557A>T (p.Thr2853Ser)
c.8536A>T (p.Thr2846Ser)
n.15434A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810679C>ACA360409331ADGRV1c.15419C>A (p.Thr5140Lys)
c.4373C>A (p.Thr1458Lys)
n.2686C>A
c.265+134470C>A (n.265+134470C>A)
c.1829C>A (p.Thr610Lys)
c.2402C>A (p.Thr801Lys)
n.15432C>A
c.15416C>A (p.Thr5139Lys)
c.15338C>A (p.Thr5113Lys)
c.12722C>A (p.Thr4241Lys)
c.15440C>A (p.Thr5147Lys)
c.15437C>A (p.Thr5146Lys)
c.15359C>A (p.Thr5120Lys)
c.15344C>A (p.Thr5115Lys)
c.15260C>A (p.Thr5087Lys)
c.*373C>A (n.*373C>A)
c.8558C>A (p.Thr2853Lys)
c.8537C>A (p.Thr2846Lys)
n.15435C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90810679C=CA1562911487ADGRV1c.15419C= (p.Thr5140=)
c.4373C= (p.Thr1458=)
n.2686C=
c.265+134470C= (n.265+134470C=)
c.1829C= (p.Thr610=)
c.2402C= (p.Thr801=)
n.15432C=
c.15416C= (p.Thr5139=)
c.15338C= (p.Thr5113=)
c.12722C= (p.Thr4241=)
c.15440C= (p.Thr5147=)
c.15437C= (p.Thr5146=)
c.15359C= (p.Thr5120=)
c.15344C= (p.Thr5115=)
c.15260C= (p.Thr5087=)
c.*373C= (n.*373C=)
c.8558C= (p.Thr2853=)
c.8537C= (p.Thr2846=)
n.15435C=
5g.90810679C>GCA360409332ADGRV1c.15419C>G (p.Thr5140Arg)
c.4373C>G (p.Thr1458Arg)
n.2686C>G
c.265+134470C>G (n.265+134470C>G)
c.1829C>G (p.Thr610Arg)
c.2402C>G (p.Thr801Arg)
n.15432C>G
c.15416C>G (p.Thr5139Arg)
c.15338C>G (p.Thr5113Arg)
c.12722C>G (p.Thr4241Arg)
c.15440C>G (p.Thr5147Arg)
c.15437C>G (p.Thr5146Arg)
c.15359C>G (p.Thr5120Arg)
c.15344C>G (p.Thr5115Arg)
c.15260C>G (p.Thr5087Arg)
c.*373C>G (n.*373C>G)
c.8558C>G (p.Thr2853Arg)
c.8537C>G (p.Thr2846Arg)
n.15435C>G
 dbSNP
5g.90810679C>TCA360409334ADGRV1c.15419C>T (p.Thr5140Ile)
c.4373C>T (p.Thr1458Ile)
n.2686C>T
c.265+134470C>T (n.265+134470C>T)
c.1829C>T (p.Thr610Ile)
c.2402C>T (p.Thr801Ile)
n.15432C>T
c.15416C>T (p.Thr5139Ile)
c.15338C>T (p.Thr5113Ile)
c.12722C>T (p.Thr4241Ile)
c.15440C>T (p.Thr5147Ile)
c.15437C>T (p.Thr5146Ile)
c.15359C>T (p.Thr5120Ile)
c.15344C>T (p.Thr5115Ile)
c.15260C>T (p.Thr5087Ile)
c.*373C>T (n.*373C>T)
c.8558C>T (p.Thr2853Ile)
c.8537C>T (p.Thr2846Ile)
n.15435C>T
 gnomAD v4
5g.90810680A=CA1562911488ADGRV1c.15420A= (p.Thr5140=)
c.4374A= (p.Thr1458=)
n.2687A=
c.265+134471A= (n.265+134471A=)
c.1830A= (p.Thr610=)
c.2403A= (p.Thr801=)
n.15433A=
c.15417A= (p.Thr5139=)
c.15339A= (p.Thr5113=)
c.12723A= (p.Thr4241=)
c.15441A= (p.Thr5147=)
c.15438A= (p.Thr5146=)
c.15360A= (p.Thr5120=)
c.15345A= (p.Thr5115=)
c.15261A= (p.Thr5087=)
c.*374A= (n.*374A=)
c.8559A= (p.Thr2853=)
c.8538A= (p.Thr2846=)
n.15436A=
5g.90810680A>CCA445468155ADGRV1c.15420A>C (p.Thr5140=)
c.4374A>C (p.Thr1458=)
n.2687A>C
c.265+134471A>C (n.265+134471A>C)
c.1830A>C (p.Thr610=)
c.2403A>C (p.Thr801=)
n.15433A>C
c.15417A>C (p.Thr5139=)
c.15339A>C (p.Thr5113=)
c.12723A>C (p.Thr4241=)
c.15441A>C (p.Thr5147=)
c.15438A>C (p.Thr5146=)
c.15360A>C (p.Thr5120=)
c.15345A>C (p.Thr5115=)
c.15261A>C (p.Thr5087=)
c.*374A>C (n.*374A>C)
c.8559A>C (p.Thr2853=)
c.8538A>C (p.Thr2846=)
n.15436A>C
5g.90810680A>GCA445468158ADGRV1c.15420A>G (p.Thr5140=)
c.4374A>G (p.Thr1458=)
n.2687A>G
c.265+134471A>G (n.265+134471A>G)
c.1830A>G (p.Thr610=)
c.2403A>G (p.Thr801=)
n.15433A>G
c.15417A>G (p.Thr5139=)
c.15339A>G (p.Thr5113=)
c.12723A>G (p.Thr4241=)
c.15441A>G (p.Thr5147=)
c.15438A>G (p.Thr5146=)
c.15360A>G (p.Thr5120=)
c.15345A>G (p.Thr5115=)
c.15261A>G (p.Thr5087=)
c.*374A>G (n.*374A>G)
c.8559A>G (p.Thr2853=)
c.8538A>G (p.Thr2846=)
n.15436A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90810680A>TCA445468160ADGRV1c.15420A>T (p.Thr5140=)
c.4374A>T (p.Thr1458=)
n.2687A>T
c.265+134471A>T (n.265+134471A>T)
c.1830A>T (p.Thr610=)
c.2403A>T (p.Thr801=)
n.15433A>T
c.15417A>T (p.Thr5139=)
c.15339A>T (p.Thr5113=)
c.12723A>T (p.Thr4241=)
c.15441A>T (p.Thr5147=)
c.15438A>T (p.Thr5146=)
c.15360A>T (p.Thr5120=)
c.15345A>T (p.Thr5115=)
c.15261A>T (p.Thr5087=)
c.*374A>T (n.*374A>T)
c.8559A>T (p.Thr2853=)
c.8538A>T (p.Thr2846=)
n.15436A>T
5g.90810681A>CCA360409337ADGRV1c.15421A>C (p.Thr5141Pro)
c.4375A>C (p.Thr1459Pro)
n.2688A>C
c.265+134472A>C (n.265+134472A>C)
c.1831A>C (p.Thr611Pro)
c.2404A>C (p.Thr802Pro)
n.15434A>C
c.15418A>C (p.Thr5140Pro)
c.15340A>C (p.Thr5114Pro)
c.12724A>C (p.Thr4242Pro)
c.15442A>C (p.Thr5148Pro)
c.15439A>C (p.Thr5147Pro)
c.15361A>C (p.Thr5121Pro)
c.15346A>C (p.Thr5116Pro)
c.15262A>C (p.Thr5088Pro)
c.*375A>C (n.*375A>C)
c.8560A>C (p.Thr2854Pro)
c.8539A>C (p.Thr2847Pro)
n.15437A>C
5g.90810681A>GCA360409339ADGRV1c.15421A>G (p.Thr5141Ala)
c.4375A>G (p.Thr1459Ala)
n.2688A>G
c.265+134472A>G (n.265+134472A>G)
c.1831A>G (p.Thr611Ala)
c.2404A>G (p.Thr802Ala)
n.15434A>G
c.15418A>G (p.Thr5140Ala)
c.15340A>G (p.Thr5114Ala)
c.12724A>G (p.Thr4242Ala)
c.15442A>G (p.Thr5148Ala)
c.15439A>G (p.Thr5147Ala)
c.15361A>G (p.Thr5121Ala)
c.15346A>G (p.Thr5116Ala)
c.15262A>G (p.Thr5088Ala)
c.*375A>G (n.*375A>G)
c.8560A>G (p.Thr2854Ala)
c.8539A>G (p.Thr2847Ala)
n.15437A>G
 gnomAD v4
5g.90810681A>TCA360409341ADGRV1c.15421A>T (p.Thr5141Ser)
c.4375A>T (p.Thr1459Ser)
n.2688A>T
c.265+134472A>T (n.265+134472A>T)
c.1831A>T (p.Thr611Ser)
c.2404A>T (p.Thr802Ser)
n.15434A>T
c.15418A>T (p.Thr5140Ser)
c.15340A>T (p.Thr5114Ser)
c.12724A>T (p.Thr4242Ser)
c.15442A>T (p.Thr5148Ser)
c.15439A>T (p.Thr5147Ser)
c.15361A>T (p.Thr5121Ser)
c.15346A>T (p.Thr5116Ser)
c.15262A>T (p.Thr5088Ser)
c.*375A>T (n.*375A>T)
c.8560A>T (p.Thr2854Ser)
c.8539A>T (p.Thr2847Ser)
n.15437A>T
5g.90810682C>ACA360409342ADGRV1c.15422C>A (p.Thr5141Asn)
c.4376C>A (p.Thr1459Asn)
n.2689C>A
c.265+134473C>A (n.265+134473C>A)
c.1832C>A (p.Thr611Asn)
c.2405C>A (p.Thr802Asn)
n.15435C>A
c.15419C>A (p.Thr5140Asn)
c.15341C>A (p.Thr5114Asn)
c.12725C>A (p.Thr4242Asn)
c.15443C>A (p.Thr5148Asn)
c.15440C>A (p.Thr5147Asn)
c.15362C>A (p.Thr5121Asn)
c.15347C>A (p.Thr5116Asn)
c.15263C>A (p.Thr5088Asn)
c.*376C>A (n.*376C>A)
c.8561C>A (p.Thr2854Asn)
c.8540C>A (p.Thr2847Asn)
n.15438C>A
5g.90810682C>GCA360409343ADGRV1c.15422C>G (p.Thr5141Ser)
c.4376C>G (p.Thr1459Ser)
n.2689C>G
c.265+134473C>G (n.265+134473C>G)
c.1832C>G (p.Thr611Ser)
c.2405C>G (p.Thr802Ser)
n.15435C>G
c.15419C>G (p.Thr5140Ser)
c.15341C>G (p.Thr5114Ser)
c.12725C>G (p.Thr4242Ser)
c.15443C>G (p.Thr5148Ser)
c.15440C>G (p.Thr5147Ser)
c.15362C>G (p.Thr5121Ser)
c.15347C>G (p.Thr5116Ser)
c.15263C>G (p.Thr5088Ser)
c.*376C>G (n.*376C>G)
c.8561C>G (p.Thr2854Ser)
c.8540C>G (p.Thr2847Ser)
n.15438C>G
 gnomAD v4
5g.90810682C>TCA360409345ADGRV1c.15422C>T (p.Thr5141Ile)
c.4376C>T (p.Thr1459Ile)
n.2689C>T
c.265+134473C>T (n.265+134473C>T)
c.1832C>T (p.Thr611Ile)
c.2405C>T (p.Thr802Ile)
n.15435C>T
c.15419C>T (p.Thr5140Ile)
c.15341C>T (p.Thr5114Ile)
c.12725C>T (p.Thr4242Ile)
c.15443C>T (p.Thr5148Ile)
c.15440C>T (p.Thr5147Ile)
c.15362C>T (p.Thr5121Ile)
c.15347C>T (p.Thr5116Ile)
c.15263C>T (p.Thr5088Ile)
c.*376C>T (n.*376C>T)
c.8561C>T (p.Thr2854Ile)
c.8540C>T (p.Thr2847Ile)
n.15438C>T
5g.90810683T>ACA445468164ADGRV1c.15423T>A (p.Thr5141=)
c.4377T>A (p.Thr1459=)
n.2690T>A
c.265+134474T>A (n.265+134474T>A)
c.1833T>A (p.Thr611=)
c.2406T>A (p.Thr802=)
n.15436T>A
c.15420T>A (p.Thr5140=)
c.15342T>A (p.Thr5114=)
c.12726T>A (p.Thr4242=)
c.15444T>A (p.Thr5148=)
c.15441T>A (p.Thr5147=)
c.15363T>A (p.Thr5121=)
c.15348T>A (p.Thr5116=)
c.15264T>A (p.Thr5088=)
c.*377T>A (n.*377T>A)
c.8562T>A (p.Thr2854=)
c.8541T>A (p.Thr2847=)
n.15439T>A
5g.90810683T>CCA445468166ADGRV1c.15423T>C (p.Thr5141=)
c.4377T>C (p.Thr1459=)
n.2690T>C
c.265+134474T>C (n.265+134474T>C)
c.1833T>C (p.Thr611=)
c.2406T>C (p.Thr802=)
n.15436T>C
c.15420T>C (p.Thr5140=)
c.15342T>C (p.Thr5114=)
c.12726T>C (p.Thr4242=)
c.15444T>C (p.Thr5148=)
c.15441T>C (p.Thr5147=)
c.15363T>C (p.Thr5121=)
c.15348T>C (p.Thr5116=)
c.15264T>C (p.Thr5088=)
c.*377T>C (n.*377T>C)
c.8562T>C (p.Thr2854=)
c.8541T>C (p.Thr2847=)
n.15439T>C
5g.90810683T>GCA445468167ADGRV1c.15423T>G (p.Thr5141=)
c.4377T>G (p.Thr1459=)
n.2690T>G
c.265+134474T>G (n.265+134474T>G)
c.1833T>G (p.Thr611=)
c.2406T>G (p.Thr802=)
n.15436T>G
c.15420T>G (p.Thr5140=)
c.15342T>G (p.Thr5114=)
c.12726T>G (p.Thr4242=)
c.15444T>G (p.Thr5148=)
c.15441T>G (p.Thr5147=)
c.15363T>G (p.Thr5121=)
c.15348T>G (p.Thr5116=)
c.15264T>G (p.Thr5088=)
c.*377T>G (n.*377T>G)
c.8562T>G (p.Thr2854=)
c.8541T>G (p.Thr2847=)
n.15439T>G
 dbSNP gnomAD v2 gnomAD v4
5g.90810683T=CA1562911489ADGRV1c.15423T= (p.Thr5141=)
c.4377T= (p.Thr1459=)
n.2690T=
c.265+134474T= (n.265+134474T=)
c.1833T= (p.Thr611=)
c.2406T= (p.Thr802=)
n.15436T=
c.15420T= (p.Thr5140=)
c.15342T= (p.Thr5114=)
c.12726T= (p.Thr4242=)
c.15444T= (p.Thr5148=)
c.15441T= (p.Thr5147=)
c.15363T= (p.Thr5121=)
c.15348T= (p.Thr5116=)
c.15264T= (p.Thr5088=)
c.*377T= (n.*377T=)
c.8562T= (p.Thr2854=)
c.8541T= (p.Thr2847=)
n.15439T=
5g.90810684G>ACA360409349ADGRV1c.15424G>A (p.Val5142Met)
c.4378G>A (p.Val1460Met)
n.2691G>A
c.265+134475G>A (n.265+134475G>A)
c.1834G>A (p.Val612Met)
c.2407G>A (p.Val803Met)
n.15437G>A
c.15421G>A (p.Val5141Met)
c.15343G>A (p.Val5115Met)
c.12727G>A (p.Val4243Met)
c.15445G>A (p.Val5149Met)
c.15442G>A (p.Val5148Met)
c.15364G>A (p.Val5122Met)
c.15349G>A (p.Val5117Met)
c.15265G>A (p.Val5089Met)
c.*378G>A (n.*378G>A)
c.8563G>A (p.Val2855Met)
c.8542G>A (p.Val2848Met)
n.15440G>A
 dbSNP gnomAD v3 gnomAD v4
5g.90810684G>CCA360409348ADGRV1c.15424G>C (p.Val5142Leu)
c.4378G>C (p.Val1460Leu)
n.2691G>C
c.265+134475G>C (n.265+134475G>C)
c.1834G>C (p.Val612Leu)
c.2407G>C (p.Val803Leu)
n.15437G>C
c.15421G>C (p.Val5141Leu)
c.15343G>C (p.Val5115Leu)
c.12727G>C (p.Val4243Leu)
c.15445G>C (p.Val5149Leu)
c.15442G>C (p.Val5148Leu)
c.15364G>C (p.Val5122Leu)
c.15349G>C (p.Val5117Leu)
c.15265G>C (p.Val5089Leu)
c.*378G>C (n.*378G>C)
c.8563G>C (p.Val2855Leu)
c.8542G>C (p.Val2848Leu)
n.15440G>C
5g.90810684G=CA1562911490ADGRV1c.15424G= (p.Val5142=)
c.4378G= (p.Val1460=)
n.2691G=
c.265+134475G= (n.265+134475G=)
c.1834G= (p.Val612=)
c.2407G= (p.Val803=)
n.15437G=
c.15421G= (p.Val5141=)
c.15343G= (p.Val5115=)
c.12727G= (p.Val4243=)
c.15445G= (p.Val5149=)
c.15442G= (p.Val5148=)
c.15364G= (p.Val5122=)
c.15349G= (p.Val5117=)
c.15265G= (p.Val5089=)
c.*378G= (n.*378G=)
c.8563G= (p.Val2855=)
c.8542G= (p.Val2848=)
n.15440G=
5g.90810684G>TCA360409347ADGRV1c.15424G>T (p.Val5142Leu)
c.4378G>T (p.Val1460Leu)
n.2691G>T
c.265+134475G>T (n.265+134475G>T)
c.1834G>T (p.Val612Leu)
c.2407G>T (p.Val803Leu)
n.15437G>T
c.15421G>T (p.Val5141Leu)
c.15343G>T (p.Val5115Leu)
c.12727G>T (p.Val4243Leu)
c.15445G>T (p.Val5149Leu)
c.15442G>T (p.Val5148Leu)
c.15364G>T (p.Val5122Leu)
c.15349G>T (p.Val5117Leu)
c.15265G>T (p.Val5089Leu)
c.*378G>T (n.*378G>T)
c.8563G>T (p.Val2855Leu)
c.8542G>T (p.Val2848Leu)
n.15440G>T
5g.90810685T>ACA360409351ADGRV1c.15425T>A (p.Val5142Glu)
c.4379T>A (p.Val1460Glu)
n.2692T>A
c.265+134476T>A (n.265+134476T>A)
c.1835T>A (p.Val612Glu)
c.2408T>A (p.Val803Glu)
n.15438T>A
c.15422T>A (p.Val5141Glu)
c.15344T>A (p.Val5115Glu)
c.12728T>A (p.Val4243Glu)
c.15446T>A (p.Val5149Glu)
c.15443T>A (p.Val5148Glu)
c.15365T>A (p.Val5122Glu)
c.15350T>A (p.Val5117Glu)
c.15266T>A (p.Val5089Glu)
c.*379T>A (n.*379T>A)
c.8564T>A (p.Val2855Glu)
c.8543T>A (p.Val2848Glu)
n.15441T>A
5g.90810685T>CCA360409361ADGRV1c.15425T>C (p.Val5142Ala)
c.4379T>C (p.Val1460Ala)
n.2692T>C
c.265+134476T>C (n.265+134476T>C)
c.1835T>C (p.Val612Ala)
c.2408T>C (p.Val803Ala)
n.15438T>C
c.15422T>C (p.Val5141Ala)
c.15344T>C (p.Val5115Ala)
c.12728T>C (p.Val4243Ala)
c.15446T>C (p.Val5149Ala)
c.15443T>C (p.Val5148Ala)
c.15365T>C (p.Val5122Ala)
c.15350T>C (p.Val5117Ala)
c.15266T>C (p.Val5089Ala)
c.*379T>C (n.*379T>C)
c.8564T>C (p.Val2855Ala)
c.8543T>C (p.Val2848Ala)
n.15441T>C
5g.90810685T>GCA360409362ADGRV1c.15425T>G (p.Val5142Gly)
c.4379T>G (p.Val1460Gly)
n.2692T>G
c.265+134476T>G (n.265+134476T>G)
c.1835T>G (p.Val612Gly)
c.2408T>G (p.Val803Gly)
n.15438T>G
c.15422T>G (p.Val5141Gly)
c.15344T>G (p.Val5115Gly)
c.12728T>G (p.Val4243Gly)
c.15446T>G (p.Val5149Gly)
c.15443T>G (p.Val5148Gly)
c.15365T>G (p.Val5122Gly)
c.15350T>G (p.Val5117Gly)
c.15266T>G (p.Val5089Gly)
c.*379T>G (n.*379T>G)
c.8564T>G (p.Val2855Gly)
c.8543T>G (p.Val2848Gly)
n.15441T>G
5g.90810686G>ACA3341919ADGRV1c.15426G>A (p.Val5142=)
c.4380G>A (p.Val1460=)
n.2693G>A
c.265+134477G>A (n.265+134477G>A)
c.1836G>A (p.Val612=)
c.2409G>A (p.Val803=)
n.15439G>A
c.15423G>A (p.Val5141=)
c.15345G>A (p.Val5115=)
c.12729G>A (p.Val4243=)
c.15447G>A (p.Val5149=)
c.15444G>A (p.Val5148=)
c.15366G>A (p.Val5122=)
c.15351G>A (p.Val5117=)
c.15267G>A (p.Val5089=)
c.*380G>A (n.*380G>A)
c.8565G>A (p.Val2855=)
c.8544G>A (p.Val2848=)
n.15442G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810686G>CCA445468174ADGRV1c.15426G>C (p.Val5142=)
c.4380G>C (p.Val1460=)
n.2693G>C
c.265+134477G>C (n.265+134477G>C)
c.1836G>C (p.Val612=)
c.2409G>C (p.Val803=)
n.15439G>C
c.15423G>C (p.Val5141=)
c.15345G>C (p.Val5115=)
c.12729G>C (p.Val4243=)
c.15447G>C (p.Val5149=)
c.15444G>C (p.Val5148=)
c.15366G>C (p.Val5122=)
c.15351G>C (p.Val5117=)
c.15267G>C (p.Val5089=)
c.*380G>C (n.*380G>C)
c.8565G>C (p.Val2855=)
c.8544G>C (p.Val2848=)
n.15442G>C
5g.90810686G=CA1562911491ADGRV1c.15426G= (p.Val5142=)
c.4380G= (p.Val1460=)
n.2693G=
c.265+134477G= (n.265+134477G=)
c.1836G= (p.Val612=)
c.2409G= (p.Val803=)
n.15439G=
c.15423G= (p.Val5141=)
c.15345G= (p.Val5115=)
c.12729G= (p.Val4243=)
c.15447G= (p.Val5149=)
c.15444G= (p.Val5148=)
c.15366G= (p.Val5122=)
c.15351G= (p.Val5117=)
c.15267G= (p.Val5089=)
c.*380G= (n.*380G=)
c.8565G= (p.Val2855=)
c.8544G= (p.Val2848=)
n.15442G=
5g.90810686G>TCA445468176ADGRV1c.15426G>T (p.Val5142=)
c.4380G>T (p.Val1460=)
n.2693G>T
c.265+134477G>T (n.265+134477G>T)
c.1836G>T (p.Val612=)
c.2409G>T (p.Val803=)
n.15439G>T
c.15423G>T (p.Val5141=)
c.15345G>T (p.Val5115=)
c.12729G>T (p.Val4243=)
c.15447G>T (p.Val5149=)
c.15444G>T (p.Val5148=)
c.15366G>T (p.Val5122=)
c.15351G>T (p.Val5117=)
c.15267G>T (p.Val5089=)
c.*380G>T (n.*380G>T)
c.8565G>T (p.Val2855=)
c.8544G>T (p.Val2848=)
n.15442G>T
 gnomAD v4
5g.90810687G>ACA360409371ADGRV1c.15427G>A (p.Ala5143Thr)
c.4381G>A (p.Ala1461Thr)
n.2694G>A
c.265+134478G>A (n.265+134478G>A)
c.1837G>A (p.Ala613Thr)
c.2410G>A (p.Ala804Thr)
n.15440G>A
c.15424G>A (p.Ala5142Thr)
c.15346G>A (p.Ala5116Thr)
c.12730G>A (p.Ala4244Thr)
c.15448G>A (p.Ala5150Thr)
c.15445G>A (p.Ala5149Thr)
c.15367G>A (p.Ala5123Thr)
c.15352G>A (p.Ala5118Thr)
c.15268G>A (p.Ala5090Thr)
c.*381G>A (n.*381G>A)
c.8566G>A (p.Ala2856Thr)
c.8545G>A (p.Ala2849Thr)
n.15443G>A
5g.90810687G>CCA360409372ADGRV1c.15427G>C (p.Ala5143Pro)
c.4381G>C (p.Ala1461Pro)
n.2694G>C
c.265+134478G>C (n.265+134478G>C)
c.1837G>C (p.Ala613Pro)
c.2410G>C (p.Ala804Pro)
n.15440G>C
c.15424G>C (p.Ala5142Pro)
c.15346G>C (p.Ala5116Pro)
c.12730G>C (p.Ala4244Pro)
c.15448G>C (p.Ala5150Pro)
c.15445G>C (p.Ala5149Pro)
c.15367G>C (p.Ala5123Pro)
c.15352G>C (p.Ala5118Pro)
c.15268G>C (p.Ala5090Pro)
c.*381G>C (n.*381G>C)
c.8566G>C (p.Ala2856Pro)
c.8545G>C (p.Ala2849Pro)
n.15443G>C
5g.90810687G>TCA360409374ADGRV1c.15427G>T (p.Ala5143Ser)
c.4381G>T (p.Ala1461Ser)
n.2694G>T
c.265+134478G>T (n.265+134478G>T)
c.1837G>T (p.Ala613Ser)
c.2410G>T (p.Ala804Ser)
n.15440G>T
c.15424G>T (p.Ala5142Ser)
c.15346G>T (p.Ala5116Ser)
c.12730G>T (p.Ala4244Ser)
c.15448G>T (p.Ala5150Ser)
c.15445G>T (p.Ala5149Ser)
c.15367G>T (p.Ala5123Ser)
c.15352G>T (p.Ala5118Ser)
c.15268G>T (p.Ala5090Ser)
c.*381G>T (n.*381G>T)
c.8566G>T (p.Ala2856Ser)
c.8545G>T (p.Ala2849Ser)
n.15443G>T
5g.90810688C>ACA360409377ADGRV1c.15428C>A (p.Ala5143Asp)
c.4382C>A (p.Ala1461Asp)
n.2695C>A
c.265+134479C>A (n.265+134479C>A)
c.1838C>A (p.Ala613Asp)
c.2411C>A (p.Ala804Asp)
n.15441C>A
c.15425C>A (p.Ala5142Asp)
c.15347C>A (p.Ala5116Asp)
c.12731C>A (p.Ala4244Asp)
c.15449C>A (p.Ala5150Asp)
c.15446C>A (p.Ala5149Asp)
c.15368C>A (p.Ala5123Asp)
c.15353C>A (p.Ala5118Asp)
c.15269C>A (p.Ala5090Asp)
c.*382C>A (n.*382C>A)
c.8567C>A (p.Ala2856Asp)
c.8546C>A (p.Ala2849Asp)
n.15444C>A
5g.90810688C>GCA360409380ADGRV1c.15428C>G (p.Ala5143Gly)
c.4382C>G (p.Ala1461Gly)
n.2695C>G
c.265+134479C>G (n.265+134479C>G)
c.1838C>G (p.Ala613Gly)
c.2411C>G (p.Ala804Gly)
n.15441C>G
c.15425C>G (p.Ala5142Gly)
c.15347C>G (p.Ala5116Gly)
c.12731C>G (p.Ala4244Gly)
c.15449C>G (p.Ala5150Gly)
c.15446C>G (p.Ala5149Gly)
c.15368C>G (p.Ala5123Gly)
c.15353C>G (p.Ala5118Gly)
c.15269C>G (p.Ala5090Gly)
c.*382C>G (n.*382C>G)
c.8567C>G (p.Ala2856Gly)
c.8546C>G (p.Ala2849Gly)
n.15444C>G
5g.90810688C>TCA360409381ADGRV1c.15428C>T (p.Ala5143Val)
c.4382C>T (p.Ala1461Val)
n.2695C>T
c.265+134479C>T (n.265+134479C>T)
c.1838C>T (p.Ala613Val)
c.2411C>T (p.Ala804Val)
n.15441C>T
c.15425C>T (p.Ala5142Val)
c.15347C>T (p.Ala5116Val)
c.12731C>T (p.Ala4244Val)
c.15449C>T (p.Ala5150Val)
c.15446C>T (p.Ala5149Val)
c.15368C>T (p.Ala5123Val)
c.15353C>T (p.Ala5118Val)
c.15269C>T (p.Ala5090Val)
c.*382C>T (n.*382C>T)
c.8567C>T (p.Ala2856Val)
c.8546C>T (p.Ala2849Val)
n.15444C>T
5g.90810689T>ACA445468183ADGRV1c.15429T>A (p.Ala5143=)
c.4383T>A (p.Ala1461=)
n.2696T>A
c.265+134480T>A (n.265+134480T>A)
c.1839T>A (p.Ala613=)
c.2412T>A (p.Ala804=)
n.15442T>A
c.15426T>A (p.Ala5142=)
c.15348T>A (p.Ala5116=)
c.12732T>A (p.Ala4244=)
c.15450T>A (p.Ala5150=)
c.15447T>A (p.Ala5149=)
c.15369T>A (p.Ala5123=)
c.15354T>A (p.Ala5118=)
c.15270T>A (p.Ala5090=)
c.*383T>A (n.*383T>A)
c.8568T>A (p.Ala2856=)
c.8547T>A (p.Ala2849=)
n.15445T>A
5g.90810689T>CCA445468185ADGRV1c.15429T>C (p.Ala5143=)
c.4383T>C (p.Ala1461=)
n.2696T>C
c.265+134480T>C (n.265+134480T>C)
c.1839T>C (p.Ala613=)
c.2412T>C (p.Ala804=)
n.15442T>C
c.15426T>C (p.Ala5142=)
c.15348T>C (p.Ala5116=)
c.12732T>C (p.Ala4244=)
c.15450T>C (p.Ala5150=)
c.15447T>C (p.Ala5149=)
c.15369T>C (p.Ala5123=)
c.15354T>C (p.Ala5118=)
c.15270T>C (p.Ala5090=)
c.*383T>C (n.*383T>C)
c.8568T>C (p.Ala2856=)
c.8547T>C (p.Ala2849=)
n.15445T>C
5g.90810689T>GCA445468186ADGRV1c.15429T>G (p.Ala5143=)
c.4383T>G (p.Ala1461=)
n.2696T>G
c.265+134480T>G (n.265+134480T>G)
c.1839T>G (p.Ala613=)
c.2412T>G (p.Ala804=)
n.15442T>G
c.15426T>G (p.Ala5142=)
c.15348T>G (p.Ala5116=)
c.12732T>G (p.Ala4244=)
c.15450T>G (p.Ala5150=)
c.15447T>G (p.Ala5149=)
c.15369T>G (p.Ala5123=)
c.15354T>G (p.Ala5118=)
c.15270T>G (p.Ala5090=)
c.*383T>G (n.*383T>G)
c.8568T>G (p.Ala2856=)
c.8547T>G (p.Ala2849=)
n.15445T>G
5g.90810690G>ACA360409387ADGRV1c.15430G>A (p.Val5144Ile)
c.4384G>A (p.Val1462Ile)
n.2697G>A
c.265+134481G>A (n.265+134481G>A)
c.1840G>A (p.Val614Ile)
c.2413G>A (p.Val805Ile)
n.15443G>A
c.15427G>A (p.Val5143Ile)
c.15349G>A (p.Val5117Ile)
c.12733G>A (p.Val4245Ile)
c.15451G>A (p.Val5151Ile)
c.15448G>A (p.Val5150Ile)
c.15370G>A (p.Val5124Ile)
c.15355G>A (p.Val5119Ile)
c.15271G>A (p.Val5091Ile)
c.*384G>A (n.*384G>A)
c.8569G>A (p.Val2857Ile)
c.8548G>A (p.Val2850Ile)
n.15446G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90810690G>CCA360409390ADGRV1c.15430G>C (p.Val5144Leu)
c.4384G>C (p.Val1462Leu)
n.2697G>C
c.265+134481G>C (n.265+134481G>C)
c.1840G>C (p.Val614Leu)
c.2413G>C (p.Val805Leu)
n.15443G>C
c.15427G>C (p.Val5143Leu)
c.15349G>C (p.Val5117Leu)
c.12733G>C (p.Val4245Leu)
c.15451G>C (p.Val5151Leu)
c.15448G>C (p.Val5150Leu)
c.15370G>C (p.Val5124Leu)
c.15355G>C (p.Val5119Leu)
c.15271G>C (p.Val5091Leu)
c.*384G>C (n.*384G>C)
c.8569G>C (p.Val2857Leu)
c.8548G>C (p.Val2850Leu)
n.15446G>C
5g.90810690G=CA1562911492ADGRV1c.15430G= (p.Val5144=)
c.4384G= (p.Val1462=)
n.2697G=
c.265+134481G= (n.265+134481G=)
c.1840G= (p.Val614=)
c.2413G= (p.Val805=)
n.15443G=
c.15427G= (p.Val5143=)
c.15349G= (p.Val5117=)
c.12733G= (p.Val4245=)
c.15451G= (p.Val5151=)
c.15448G= (p.Val5150=)
c.15370G= (p.Val5124=)
c.15355G= (p.Val5119=)
c.15271G= (p.Val5091=)
c.*384G= (n.*384G=)
c.8569G= (p.Val2857=)
c.8548G= (p.Val2850=)
n.15446G=
5g.90810690G>TCA3341920ADGRV1c.15430G>T (p.Val5144Leu)
c.4384G>T (p.Val1462Leu)
n.2697G>T
c.265+134481G>T (n.265+134481G>T)
c.1840G>T (p.Val614Leu)
c.2413G>T (p.Val805Leu)
n.15443G>T
c.15427G>T (p.Val5143Leu)
c.15349G>T (p.Val5117Leu)
c.12733G>T (p.Val4245Leu)
c.15451G>T (p.Val5151Leu)
c.15448G>T (p.Val5150Leu)
c.15370G>T (p.Val5124Leu)
c.15355G>T (p.Val5119Leu)
c.15271G>T (p.Val5091Leu)
c.*384G>T (n.*384G>T)
c.8569G>T (p.Val2857Leu)
c.8548G>T (p.Val2850Leu)
n.15446G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810691T>ACA360409399ADGRV1c.15431T>A (p.Val5144Glu)
c.4385T>A (p.Val1462Glu)
n.2698T>A
c.265+134482T>A (n.265+134482T>A)
c.1841T>A (p.Val614Glu)
c.2414T>A (p.Val805Glu)
n.15444T>A
c.15428T>A (p.Val5143Glu)
c.15350T>A (p.Val5117Glu)
c.12734T>A (p.Val4245Glu)
c.15452T>A (p.Val5151Glu)
c.15449T>A (p.Val5150Glu)
c.15371T>A (p.Val5124Glu)
c.15356T>A (p.Val5119Glu)
c.15272T>A (p.Val5091Glu)
c.*385T>A (n.*385T>A)
c.8570T>A (p.Val2857Glu)
c.8549T>A (p.Val2850Glu)
n.15447T>A
5g.90810691T>CCA3341921ADGRV1c.15431T>C (p.Val5144Ala)
c.4385T>C (p.Val1462Ala)
n.2698T>C
c.265+134482T>C (n.265+134482T>C)
c.1841T>C (p.Val614Ala)
c.2414T>C (p.Val805Ala)
n.15444T>C
c.15428T>C (p.Val5143Ala)
c.15350T>C (p.Val5117Ala)
c.12734T>C (p.Val4245Ala)
c.15452T>C (p.Val5151Ala)
c.15449T>C (p.Val5150Ala)
c.15371T>C (p.Val5124Ala)
c.15356T>C (p.Val5119Ala)
c.15272T>C (p.Val5091Ala)
c.*385T>C (n.*385T>C)
c.8570T>C (p.Val2857Ala)
c.8549T>C (p.Val2850Ala)
n.15447T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810691T>GCA360409395ADGRV1c.15431T>G (p.Val5144Gly)
c.4385T>G (p.Val1462Gly)
n.2698T>G
c.265+134482T>G (n.265+134482T>G)
c.1841T>G (p.Val614Gly)
c.2414T>G (p.Val805Gly)
n.15444T>G
c.15428T>G (p.Val5143Gly)
c.15350T>G (p.Val5117Gly)
c.12734T>G (p.Val4245Gly)
c.15452T>G (p.Val5151Gly)
c.15449T>G (p.Val5150Gly)
c.15371T>G (p.Val5124Gly)
c.15356T>G (p.Val5119Gly)
c.15272T>G (p.Val5091Gly)
c.*385T>G (n.*385T>G)
c.8570T>G (p.Val2857Gly)
c.8549T>G (p.Val2850Gly)
n.15447T>G
 dbSNP
5g.90810691T=CA1562911494ADGRV1c.15431T= (p.Val5144=)
c.4385T= (p.Val1462=)
n.2698T=
c.265+134482T= (n.265+134482T=)
c.1841T= (p.Val614=)
c.2414T= (p.Val805=)
n.15444T=
c.15428T= (p.Val5143=)
c.15350T= (p.Val5117=)
c.12734T= (p.Val4245=)
c.15452T= (p.Val5151=)
c.15449T= (p.Val5150=)
c.15371T= (p.Val5124=)
c.15356T= (p.Val5119=)
c.15272T= (p.Val5091=)
c.*385T= (n.*385T=)
c.8570T= (p.Val2857=)
c.8549T= (p.Val2850=)
n.15447T=
5g.90810691dupCA1562911493ADGRV1c.15431dup (p.Ala5145SerfsTer3)
c.4385dup (p.Ala1463SerfsTer3)
n.2698dup
c.265+134482dup (n.265+134482dup)
c.1841dup (p.Ala615SerfsTer3)
c.2414dup (p.Ala806SerfsTer3)
n.15444dup
c.15428dup (p.Ala5144SerfsTer3)
c.15350dup (p.Ala5118SerfsTer3)
c.12734dup (p.Ala4246SerfsTer3)
c.15452dup (p.Ala5152SerfsTer3)
c.15449dup (p.Ala5151SerfsTer3)
c.15371dup (p.Ala5125SerfsTer3)
c.15356dup (p.Ala5120SerfsTer3)
c.15272dup (p.Ala5092SerfsTer3)
c.*385dup (n.*385dup)
c.8570dup (p.Ala2858SerfsTer3)
c.8549dup (p.Ala2851SerfsTer3)
n.15447dup
 dbSNP gnomAD v4
5g.90810692A>CCA445468189ADGRV1c.15432A>C (p.Val5144=)
c.4386A>C (p.Val1462=)
n.2699A>C
c.265+134483A>C (n.265+134483A>C)
c.1842A>C (p.Val614=)
c.2415A>C (p.Val805=)
n.15445A>C
c.15429A>C (p.Val5143=)
c.15351A>C (p.Val5117=)
c.12735A>C (p.Val4245=)
c.15453A>C (p.Val5151=)
c.15450A>C (p.Val5150=)
c.15372A>C (p.Val5124=)
c.15357A>C (p.Val5119=)
c.15273A>C (p.Val5091=)
c.*386A>C (n.*386A>C)
c.8571A>C (p.Val2857=)
c.8550A>C (p.Val2850=)
n.15448A>C
5g.90810692A>GCA445468190ADGRV1c.15432A>G (p.Val5144=)
c.4386A>G (p.Val1462=)
n.2699A>G
c.265+134483A>G (n.265+134483A>G)
c.1842A>G (p.Val614=)
c.2415A>G (p.Val805=)
n.15445A>G
c.15429A>G (p.Val5143=)
c.15351A>G (p.Val5117=)
c.12735A>G (p.Val4245=)
c.15453A>G (p.Val5151=)
c.15450A>G (p.Val5150=)
c.15372A>G (p.Val5124=)
c.15357A>G (p.Val5119=)
c.15273A>G (p.Val5091=)
c.*386A>G (n.*386A>G)
c.8571A>G (p.Val2857=)
c.8550A>G (p.Val2850=)
n.15448A>G
5g.90810692A>TCA445468191ADGRV1c.15432A>T (p.Val5144=)
c.4386A>T (p.Val1462=)
n.2699A>T
c.265+134483A>T (n.265+134483A>T)
c.1842A>T (p.Val614=)
c.2415A>T (p.Val805=)
n.15445A>T
c.15429A>T (p.Val5143=)
c.15351A>T (p.Val5117=)
c.12735A>T (p.Val4245=)
c.15453A>T (p.Val5151=)
c.15450A>T (p.Val5150=)
c.15372A>T (p.Val5124=)
c.15357A>T (p.Val5119=)
c.15273A>T (p.Val5091=)
c.*386A>T (n.*386A>T)
c.8571A>T (p.Val2857=)
c.8550A>T (p.Val2850=)
n.15448A>T
5g.90810693G>ACA360409417ADGRV1c.15433G>A (p.Ala5145Thr)
c.4387G>A (p.Ala1463Thr)
n.2700G>A
c.265+134484G>A (n.265+134484G>A)
c.1843G>A (p.Ala615Thr)
c.2416G>A (p.Ala806Thr)
n.15446G>A
c.15430G>A (p.Ala5144Thr)
c.15352G>A (p.Ala5118Thr)
c.12736G>A (p.Ala4246Thr)
c.15454G>A (p.Ala5152Thr)
c.15451G>A (p.Ala5151Thr)
c.15373G>A (p.Ala5125Thr)
c.15358G>A (p.Ala5120Thr)
c.15274G>A (p.Ala5092Thr)
c.*387G>A (n.*387G>A)
c.8572G>A (p.Ala2858Thr)
c.8551G>A (p.Ala2851Thr)
n.15449G>A
5g.90810693G>CCA360409408ADGRV1c.15433G>C (p.Ala5145Pro)
c.4387G>C (p.Ala1463Pro)
n.2700G>C
c.265+134484G>C (n.265+134484G>C)
c.1843G>C (p.Ala615Pro)
c.2416G>C (p.Ala806Pro)
n.15446G>C
c.15430G>C (p.Ala5144Pro)
c.15352G>C (p.Ala5118Pro)
c.12736G>C (p.Ala4246Pro)
c.15454G>C (p.Ala5152Pro)
c.15451G>C (p.Ala5151Pro)
c.15373G>C (p.Ala5125Pro)
c.15358G>C (p.Ala5120Pro)
c.15274G>C (p.Ala5092Pro)
c.*387G>C (n.*387G>C)
c.8572G>C (p.Ala2858Pro)
c.8551G>C (p.Ala2851Pro)
n.15449G>C
5g.90810693G>TCA360409415ADGRV1c.15433G>T (p.Ala5145Ser)
c.4387G>T (p.Ala1463Ser)
n.2700G>T
c.265+134484G>T (n.265+134484G>T)
c.1843G>T (p.Ala615Ser)
c.2416G>T (p.Ala806Ser)
n.15446G>T
c.15430G>T (p.Ala5144Ser)
c.15352G>T (p.Ala5118Ser)
c.12736G>T (p.Ala4246Ser)
c.15454G>T (p.Ala5152Ser)
c.15451G>T (p.Ala5151Ser)
c.15373G>T (p.Ala5125Ser)
c.15358G>T (p.Ala5120Ser)
c.15274G>T (p.Ala5092Ser)
c.*387G>T (n.*387G>T)
c.8572G>T (p.Ala2858Ser)
c.8551G>T (p.Ala2851Ser)
n.15449G>T
5g.90810694C>ACA360409419ADGRV1c.15434C>A (p.Ala5145Glu)
c.4388C>A (p.Ala1463Glu)
n.2701C>A
c.265+134485C>A (n.265+134485C>A)
c.1844C>A (p.Ala615Glu)
c.2417C>A (p.Ala806Glu)
n.15447C>A
c.15431C>A (p.Ala5144Glu)
c.15353C>A (p.Ala5118Glu)
c.12737C>A (p.Ala4246Glu)
c.15455C>A (p.Ala5152Glu)
c.15452C>A (p.Ala5151Glu)
c.15374C>A (p.Ala5125Glu)
c.15359C>A (p.Ala5120Glu)
c.15275C>A (p.Ala5092Glu)
c.*388C>A (n.*388C>A)
c.8573C>A (p.Ala2858Glu)
c.8552C>A (p.Ala2851Glu)
n.15450C>A
5g.90810694C>GCA360409423ADGRV1c.15434C>G (p.Ala5145Gly)
c.4388C>G (p.Ala1463Gly)
n.2701C>G
c.265+134485C>G (n.265+134485C>G)
c.1844C>G (p.Ala615Gly)
c.2417C>G (p.Ala806Gly)
n.15447C>G
c.15431C>G (p.Ala5144Gly)
c.15353C>G (p.Ala5118Gly)
c.12737C>G (p.Ala4246Gly)
c.15455C>G (p.Ala5152Gly)
c.15452C>G (p.Ala5151Gly)
c.15374C>G (p.Ala5125Gly)
c.15359C>G (p.Ala5120Gly)
c.15275C>G (p.Ala5092Gly)
c.*388C>G (n.*388C>G)
c.8573C>G (p.Ala2858Gly)
c.8552C>G (p.Ala2851Gly)
n.15450C>G
5g.90810694C>TCA360409426ADGRV1c.15434C>T (p.Ala5145Val)
c.4388C>T (p.Ala1463Val)
n.2701C>T
c.265+134485C>T (n.265+134485C>T)
c.1844C>T (p.Ala615Val)
c.2417C>T (p.Ala806Val)
n.15447C>T
c.15431C>T (p.Ala5144Val)
c.15353C>T (p.Ala5118Val)
c.12737C>T (p.Ala4246Val)
c.15455C>T (p.Ala5152Val)
c.15452C>T (p.Ala5151Val)
c.15374C>T (p.Ala5125Val)
c.15359C>T (p.Ala5120Val)
c.15275C>T (p.Ala5092Val)
c.*388C>T (n.*388C>T)
c.8573C>T (p.Ala2858Val)
c.8552C>T (p.Ala2851Val)
n.15450C>T
 gnomAD v4
5g.90810695A>CCA445468202ADGRV1c.15435A>C (p.Ala5145=)
c.4389A>C (p.Ala1463=)
n.2702A>C
c.265+134486A>C (n.265+134486A>C)
c.1845A>C (p.Ala615=)
c.2418A>C (p.Ala806=)
n.15448A>C
c.15432A>C (p.Ala5144=)
c.15354A>C (p.Ala5118=)
c.12738A>C (p.Ala4246=)
c.15456A>C (p.Ala5152=)
c.15453A>C (p.Ala5151=)
c.15375A>C (p.Ala5125=)
c.15360A>C (p.Ala5120=)
c.15276A>C (p.Ala5092=)
c.*389A>C (n.*389A>C)
c.8574A>C (p.Ala2858=)
c.8553A>C (p.Ala2851=)
n.15451A>C
 gnomAD v4
5g.90810695A>GCA445468197ADGRV1c.15435A>G (p.Ala5145=)
c.4389A>G (p.Ala1463=)
n.2702A>G
c.265+134486A>G (n.265+134486A>G)
c.1845A>G (p.Ala615=)
c.2418A>G (p.Ala806=)
n.15448A>G
c.15432A>G (p.Ala5144=)
c.15354A>G (p.Ala5118=)
c.12738A>G (p.Ala4246=)
c.15456A>G (p.Ala5152=)
c.15453A>G (p.Ala5151=)
c.15375A>G (p.Ala5125=)
c.15360A>G (p.Ala5120=)
c.15276A>G (p.Ala5092=)
c.*389A>G (n.*389A>G)
c.8574A>G (p.Ala2858=)
c.8553A>G (p.Ala2851=)
n.15451A>G
5g.90810695A>TCA445468200ADGRV1c.15435A>T (p.Ala5145=)
c.4389A>T (p.Ala1463=)
n.2702A>T
c.265+134486A>T (n.265+134486A>T)
c.1845A>T (p.Ala615=)
c.2418A>T (p.Ala806=)
n.15448A>T
c.15432A>T (p.Ala5144=)
c.15354A>T (p.Ala5118=)
c.12738A>T (p.Ala4246=)
c.15456A>T (p.Ala5152=)
c.15453A>T (p.Ala5151=)
c.15375A>T (p.Ala5125=)
c.15360A>T (p.Ala5120=)
c.15276A>T (p.Ala5092=)
c.*389A>T (n.*389A>T)
c.8574A>T (p.Ala2858=)
c.8553A>T (p.Ala2851=)
n.15451A>T
5g.90810696G>ACA360409433ADGRV1c.15436G>A (p.Val5146Ile)
c.4390G>A (p.Val1464Ile)
n.2703G>A
c.265+134487G>A (n.265+134487G>A)
c.1846G>A (p.Val616Ile)
c.2419G>A (p.Val807Ile)
n.15449G>A
c.15433G>A (p.Val5145Ile)
c.15355G>A (p.Val5119Ile)
c.12739G>A (p.Val4247Ile)
c.15457G>A (p.Val5153Ile)
c.15454G>A (p.Val5152Ile)
c.15376G>A (p.Val5126Ile)
c.15361G>A (p.Val5121Ile)
c.15277G>A (p.Val5093Ile)
c.*390G>A (n.*390G>A)
c.8575G>A (p.Val2859Ile)
c.8554G>A (p.Val2852Ile)
n.15452G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90810696G>CCA360409430ADGRV1c.15436G>C (p.Val5146Leu)
c.4390G>C (p.Val1464Leu)
n.2703G>C
c.265+134487G>C (n.265+134487G>C)
c.1846G>C (p.Val616Leu)
c.2419G>C (p.Val807Leu)
n.15449G>C
c.15433G>C (p.Val5145Leu)
c.15355G>C (p.Val5119Leu)
c.12739G>C (p.Val4247Leu)
c.15457G>C (p.Val5153Leu)
c.15454G>C (p.Val5152Leu)
c.15376G>C (p.Val5126Leu)
c.15361G>C (p.Val5121Leu)
c.15277G>C (p.Val5093Leu)
c.*390G>C (n.*390G>C)
c.8575G>C (p.Val2859Leu)
c.8554G>C (p.Val2852Leu)
n.15452G>C
5g.90810696G=CA1562911495ADGRV1c.15436G= (p.Val5146=)
c.4390G= (p.Val1464=)
n.2703G=
c.265+134487G= (n.265+134487G=)
c.1846G= (p.Val616=)
c.2419G= (p.Val807=)
n.15449G=
c.15433G= (p.Val5145=)
c.15355G= (p.Val5119=)
c.12739G= (p.Val4247=)
c.15457G= (p.Val5153=)
c.15454G= (p.Val5152=)
c.15376G= (p.Val5126=)
c.15361G= (p.Val5121=)
c.15277G= (p.Val5093=)
c.*390G= (n.*390G=)
c.8575G= (p.Val2859=)
c.8554G= (p.Val2852=)
n.15452G=
5g.90810696G>TCA360409429ADGRV1c.15436G>T (p.Val5146Phe)
c.4390G>T (p.Val1464Phe)
n.2703G>T
c.265+134487G>T (n.265+134487G>T)
c.1846G>T (p.Val616Phe)
c.2419G>T (p.Val807Phe)
n.15449G>T
c.15433G>T (p.Val5145Phe)
c.15355G>T (p.Val5119Phe)
c.12739G>T (p.Val4247Phe)
c.15457G>T (p.Val5153Phe)
c.15454G>T (p.Val5152Phe)
c.15376G>T (p.Val5126Phe)
c.15361G>T (p.Val5121Phe)
c.15277G>T (p.Val5093Phe)
c.*390G>T (n.*390G>T)
c.8575G>T (p.Val2859Phe)
c.8554G>T (p.Val2852Phe)
n.15452G>T
5g.90810697T>ACA360409435ADGRV1c.15437T>A (p.Val5146Asp)
c.4391T>A (p.Val1464Asp)
n.2704T>A
c.265+134488T>A (n.265+134488T>A)
c.1847T>A (p.Val616Asp)
c.2420T>A (p.Val807Asp)
n.15450T>A
c.15434T>A (p.Val5145Asp)
c.15356T>A (p.Val5119Asp)
c.12740T>A (p.Val4247Asp)
c.15458T>A (p.Val5153Asp)
c.15455T>A (p.Val5152Asp)
c.15377T>A (p.Val5126Asp)
c.15362T>A (p.Val5121Asp)
c.15278T>A (p.Val5093Asp)
c.*391T>A (n.*391T>A)
c.8576T>A (p.Val2859Asp)
c.8555T>A (p.Val2852Asp)
n.15453T>A
5g.90810697T>CCA360409437ADGRV1c.15437T>C (p.Val5146Ala)
c.4391T>C (p.Val1464Ala)
n.2704T>C
c.265+134488T>C (n.265+134488T>C)
c.1847T>C (p.Val616Ala)
c.2420T>C (p.Val807Ala)
n.15450T>C
c.15434T>C (p.Val5145Ala)
c.15356T>C (p.Val5119Ala)
c.12740T>C (p.Val4247Ala)
c.15458T>C (p.Val5153Ala)
c.15455T>C (p.Val5152Ala)
c.15377T>C (p.Val5126Ala)
c.15362T>C (p.Val5121Ala)
c.15278T>C (p.Val5093Ala)
c.*391T>C (n.*391T>C)
c.8576T>C (p.Val2859Ala)
c.8555T>C (p.Val2852Ala)
n.15453T>C
 gnomAD v4
5g.90810697T>GCA3341922ADGRV1c.15437T>G (p.Val5146Gly)
c.4391T>G (p.Val1464Gly)
n.2704T>G
c.265+134488T>G (n.265+134488T>G)
c.1847T>G (p.Val616Gly)
c.2420T>G (p.Val807Gly)
n.15450T>G
c.15434T>G (p.Val5145Gly)
c.15356T>G (p.Val5119Gly)
c.12740T>G (p.Val4247Gly)
c.15458T>G (p.Val5153Gly)
c.15455T>G (p.Val5152Gly)
c.15377T>G (p.Val5126Gly)
c.15362T>G (p.Val5121Gly)
c.15278T>G (p.Val5093Gly)
c.*391T>G (n.*391T>G)
c.8576T>G (p.Val2859Gly)
c.8555T>G (p.Val2852Gly)
n.15453T>G
 dbSNP ExAC gnomAD v2
5g.90810697T=CA1562911496ADGRV1c.15437T= (p.Val5146=)
c.4391T= (p.Val1464=)
n.2704T=
c.265+134488T= (n.265+134488T=)
c.1847T= (p.Val616=)
c.2420T= (p.Val807=)
n.15450T=
c.15434T= (p.Val5145=)
c.15356T= (p.Val5119=)
c.12740T= (p.Val4247=)
c.15458T= (p.Val5153=)
c.15455T= (p.Val5152=)
c.15377T= (p.Val5126=)
c.15362T= (p.Val5121=)
c.15278T= (p.Val5093=)
c.*391T= (n.*391T=)
c.8576T= (p.Val2859=)
c.8555T= (p.Val2852=)
n.15453T=
5g.90810698T>ACA445468208ADGRV1c.15438T>A (p.Val5146=)
c.4392T>A (p.Val1464=)
n.2705T>A
c.265+134489T>A (n.265+134489T>A)
c.1848T>A (p.Val616=)
c.2421T>A (p.Val807=)
n.15451T>A
c.15435T>A (p.Val5145=)
c.15357T>A (p.Val5119=)
c.12741T>A (p.Val4247=)
c.15459T>A (p.Val5153=)
c.15456T>A (p.Val5152=)
c.15378T>A (p.Val5126=)
c.15363T>A (p.Val5121=)
c.15279T>A (p.Val5093=)
c.*392T>A (n.*392T>A)
c.8577T>A (p.Val2859=)
c.8556T>A (p.Val2852=)
n.15454T>A
5g.90810698T>CCA445468210ADGRV1c.15438T>C (p.Val5146=)
c.4392T>C (p.Val1464=)
n.2705T>C
c.265+134489T>C (n.265+134489T>C)
c.1848T>C (p.Val616=)
c.2421T>C (p.Val807=)
n.15451T>C
c.15435T>C (p.Val5145=)
c.15357T>C (p.Val5119=)
c.12741T>C (p.Val4247=)
c.15459T>C (p.Val5153=)
c.15456T>C (p.Val5152=)
c.15378T>C (p.Val5126=)
c.15363T>C (p.Val5121=)
c.15279T>C (p.Val5093=)
c.*392T>C (n.*392T>C)
c.8577T>C (p.Val2859=)
c.8556T>C (p.Val2852=)
n.15454T>C
5g.90810698T>GCA445468212ADGRV1c.15438T>G (p.Val5146=)
c.4392T>G (p.Val1464=)
n.2705T>G
c.265+134489T>G (n.265+134489T>G)
c.1848T>G (p.Val616=)
c.2421T>G (p.Val807=)
n.15451T>G
c.15435T>G (p.Val5145=)
c.15357T>G (p.Val5119=)
c.12741T>G (p.Val4247=)
c.15459T>G (p.Val5153=)
c.15456T>G (p.Val5152=)
c.15378T>G (p.Val5126=)
c.15363T>G (p.Val5121=)
c.15279T>G (p.Val5093=)
c.*392T>G (n.*392T>G)
c.8577T>G (p.Val2859=)
c.8556T>G (p.Val2852=)
n.15454T>G
 gnomAD v4
5g.90810699G>ACA360409445ADGRV1c.15439G>A (p.Asp5147Asn)
c.4393G>A (p.Asp1465Asn)
n.2706G>A
c.265+134490G>A (n.265+134490G>A)
c.1849G>A (p.Asp617Asn)
c.2422G>A (p.Asp808Asn)
n.15452G>A
c.15436G>A (p.Asp5146Asn)
c.15358G>A (p.Asp5120Asn)
c.12742G>A (p.Asp4248Asn)
c.15460G>A (p.Asp5154Asn)
c.15457G>A (p.Asp5153Asn)
c.15379G>A (p.Asp5127Asn)
c.15364G>A (p.Asp5122Asn)
c.15280G>A (p.Asp5094Asn)
c.*393G>A (n.*393G>A)
c.8578G>A (p.Asp2860Asn)
c.8557G>A (p.Asp2853Asn)
n.15455G>A
5g.90810699G>CCA360409450ADGRV1c.15439G>C (p.Asp5147His)
c.4393G>C (p.Asp1465His)
n.2706G>C
c.265+134490G>C (n.265+134490G>C)
c.1849G>C (p.Asp617His)
c.2422G>C (p.Asp808His)
n.15452G>C
c.15436G>C (p.Asp5146His)
c.15358G>C (p.Asp5120His)
c.12742G>C (p.Asp4248His)
c.15460G>C (p.Asp5154His)
c.15457G>C (p.Asp5153His)
c.15379G>C (p.Asp5127His)
c.15364G>C (p.Asp5122His)
c.15280G>C (p.Asp5094His)
c.*393G>C (n.*393G>C)
c.8578G>C (p.Asp2860His)
c.8557G>C (p.Asp2853His)
n.15455G>C
5g.90810699G>TCA360409452ADGRV1c.15439G>T (p.Asp5147Tyr)
c.4393G>T (p.Asp1465Tyr)
n.2706G>T
c.265+134490G>T (n.265+134490G>T)
c.1849G>T (p.Asp617Tyr)
c.2422G>T (p.Asp808Tyr)
n.15452G>T
c.15436G>T (p.Asp5146Tyr)
c.15358G>T (p.Asp5120Tyr)
c.12742G>T (p.Asp4248Tyr)
c.15460G>T (p.Asp5154Tyr)
c.15457G>T (p.Asp5153Tyr)
c.15379G>T (p.Asp5127Tyr)
c.15364G>T (p.Asp5122Tyr)
c.15280G>T (p.Asp5094Tyr)
c.*393G>T (n.*393G>T)
c.8578G>T (p.Asp2860Tyr)
c.8557G>T (p.Asp2853Tyr)
n.15455G>T
5g.90810700A=CA1562911497ADGRV1c.15440A= (p.Asp5147=)
c.4394A= (p.Asp1465=)
n.2707A=
c.265+134491A= (n.265+134491A=)
c.1850A= (p.Asp617=)
c.2423A= (p.Asp808=)
n.15453A=
c.15437A= (p.Asp5146=)
c.15359A= (p.Asp5120=)
c.12743A= (p.Asp4248=)
c.15461A= (p.Asp5154=)
c.15458A= (p.Asp5153=)
c.15380A= (p.Asp5127=)
c.15365A= (p.Asp5122=)
c.15281A= (p.Asp5094=)
c.*394A= (n.*394A=)
c.8579A= (p.Asp2860=)
c.8558A= (p.Asp2853=)
n.15456A=
5g.90810700A>CCA360409454ADGRV1c.15440A>C (p.Asp5147Ala)
c.4394A>C (p.Asp1465Ala)
n.2707A>C
c.265+134491A>C (n.265+134491A>C)
c.1850A>C (p.Asp617Ala)
c.2423A>C (p.Asp808Ala)
n.15453A>C
c.15437A>C (p.Asp5146Ala)
c.15359A>C (p.Asp5120Ala)
c.12743A>C (p.Asp4248Ala)
c.15461A>C (p.Asp5154Ala)
c.15458A>C (p.Asp5153Ala)
c.15380A>C (p.Asp5127Ala)
c.15365A>C (p.Asp5122Ala)
c.15281A>C (p.Asp5094Ala)
c.*394A>C (n.*394A>C)
c.8579A>C (p.Asp2860Ala)
c.8558A>C (p.Asp2853Ala)
n.15456A>C
5g.90810700A>GCA3341923ADGRV1c.15440A>G (p.Asp5147Gly)
c.4394A>G (p.Asp1465Gly)
n.2707A>G
c.265+134491A>G (n.265+134491A>G)
c.1850A>G (p.Asp617Gly)
c.2423A>G (p.Asp808Gly)
n.15453A>G
c.15437A>G (p.Asp5146Gly)
c.15359A>G (p.Asp5120Gly)
c.12743A>G (p.Asp4248Gly)
c.15461A>G (p.Asp5154Gly)
c.15458A>G (p.Asp5153Gly)
c.15380A>G (p.Asp5127Gly)
c.15365A>G (p.Asp5122Gly)
c.15281A>G (p.Asp5094Gly)
c.*394A>G (n.*394A>G)
c.8579A>G (p.Asp2860Gly)
c.8558A>G (p.Asp2853Gly)
n.15456A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810700A>TCA360409456ADGRV1c.15440A>T (p.Asp5147Val)
c.4394A>T (p.Asp1465Val)
n.2707A>T
c.265+134491A>T (n.265+134491A>T)
c.1850A>T (p.Asp617Val)
c.2423A>T (p.Asp808Val)
n.15453A>T
c.15437A>T (p.Asp5146Val)
c.15359A>T (p.Asp5120Val)
c.12743A>T (p.Asp4248Val)
c.15461A>T (p.Asp5154Val)
c.15458A>T (p.Asp5153Val)
c.15380A>T (p.Asp5127Val)
c.15365A>T (p.Asp5122Val)
c.15281A>T (p.Asp5094Val)
c.*394A>T (n.*394A>T)
c.8579A>T (p.Asp2860Val)
c.8558A>T (p.Asp2853Val)
n.15456A>T
5g.90810701C>ACA360409461ADGRV1c.15441C>A (p.Asp5147Glu)
c.4395C>A (p.Asp1465Glu)
n.2708C>A
c.265+134492C>A (n.265+134492C>A)
c.1851C>A (p.Asp617Glu)
c.2424C>A (p.Asp808Glu)
n.15454C>A
c.15438C>A (p.Asp5146Glu)
c.15360C>A (p.Asp5120Glu)
c.12744C>A (p.Asp4248Glu)
c.15462C>A (p.Asp5154Glu)
c.15459C>A (p.Asp5153Glu)
c.15381C>A (p.Asp5127Glu)
c.15366C>A (p.Asp5122Glu)
c.15282C>A (p.Asp5094Glu)
c.*395C>A (n.*395C>A)
c.8580C>A (p.Asp2860Glu)
c.8559C>A (p.Asp2853Glu)
n.15457C>A
5g.90810701C=CA1562911498ADGRV1c.15441C= (p.Asp5147=)
c.4395C= (p.Asp1465=)
n.2708C=
c.265+134492C= (n.265+134492C=)
c.1851C= (p.Asp617=)
c.2424C= (p.Asp808=)
n.15454C=
c.15438C= (p.Asp5146=)
c.15360C= (p.Asp5120=)
c.12744C= (p.Asp4248=)
c.15462C= (p.Asp5154=)
c.15459C= (p.Asp5153=)
c.15381C= (p.Asp5127=)
c.15366C= (p.Asp5122=)
c.15282C= (p.Asp5094=)
c.*395C= (n.*395C=)
c.8580C= (p.Asp2860=)
c.8559C= (p.Asp2853=)
n.15457C=
5g.90810701C>GCA360409465ADGRV1c.15441C>G (p.Asp5147Glu)
c.4395C>G (p.Asp1465Glu)
n.2708C>G
c.265+134492C>G (n.265+134492C>G)
c.1851C>G (p.Asp617Glu)
c.2424C>G (p.Asp808Glu)
n.15454C>G
c.15438C>G (p.Asp5146Glu)
c.15360C>G (p.Asp5120Glu)
c.12744C>G (p.Asp4248Glu)
c.15462C>G (p.Asp5154Glu)
c.15459C>G (p.Asp5153Glu)
c.15381C>G (p.Asp5127Glu)
c.15366C>G (p.Asp5122Glu)
c.15282C>G (p.Asp5094Glu)
c.*395C>G (n.*395C>G)
c.8580C>G (p.Asp2860Glu)
c.8559C>G (p.Asp2853Glu)
n.15457C>G
5g.90810701C>TCA445468216ADGRV1c.15441C>T (p.Asp5147=)
c.4395C>T (p.Asp1465=)
n.2708C>T
c.265+134492C>T (n.265+134492C>T)
c.1851C>T (p.Asp617=)
c.2424C>T (p.Asp808=)
n.15454C>T
c.15438C>T (p.Asp5146=)
c.15360C>T (p.Asp5120=)
c.12744C>T (p.Asp4248=)
c.15462C>T (p.Asp5154=)
c.15459C>T (p.Asp5153=)
c.15381C>T (p.Asp5127=)
c.15366C>T (p.Asp5122=)
c.15282C>T (p.Asp5094=)
c.*395C>T (n.*395C>T)
c.8580C>T (p.Asp2860=)
c.8559C>T (p.Asp2853=)
n.15457C>T
 dbSNP
5g.90810702A=CA1562911499ADGRV1c.15442A= (p.Thr5148=)
c.4396A= (p.Thr1466=)
n.2709A=
c.265+134493A= (n.265+134493A=)
c.1852A= (p.Thr618=)
c.2425A= (p.Thr809=)
n.15455A=
c.15439A= (p.Thr5147=)
c.15361A= (p.Thr5121=)
c.12745A= (p.Thr4249=)
c.15463A= (p.Thr5155=)
c.15460A= (p.Thr5154=)
c.15382A= (p.Thr5128=)
c.15367A= (p.Thr5123=)
c.15283A= (p.Thr5095=)
c.*396A= (n.*396A=)
c.8581A= (p.Thr2861=)
c.8560A= (p.Thr2854=)
n.15458A=
5g.90810702A>CCA360409468ADGRV1c.15442A>C (p.Thr5148Pro)
c.4396A>C (p.Thr1466Pro)
n.2709A>C
c.265+134493A>C (n.265+134493A>C)
c.1852A>C (p.Thr618Pro)
c.2425A>C (p.Thr809Pro)
n.15455A>C
c.15439A>C (p.Thr5147Pro)
c.15361A>C (p.Thr5121Pro)
c.12745A>C (p.Thr4249Pro)
c.15463A>C (p.Thr5155Pro)
c.15460A>C (p.Thr5154Pro)
c.15382A>C (p.Thr5128Pro)
c.15367A>C (p.Thr5123Pro)
c.15283A>C (p.Thr5095Pro)
c.*396A>C (n.*396A>C)
c.8581A>C (p.Thr2861Pro)
c.8560A>C (p.Thr2854Pro)
n.15458A>C
 gnomAD v4
5g.90810702A>GCA360409470ADGRV1c.15442A>G (p.Thr5148Ala)
c.4396A>G (p.Thr1466Ala)
n.2709A>G
c.265+134493A>G (n.265+134493A>G)
c.1852A>G (p.Thr618Ala)
c.2425A>G (p.Thr809Ala)
n.15455A>G
c.15439A>G (p.Thr5147Ala)
c.15361A>G (p.Thr5121Ala)
c.12745A>G (p.Thr4249Ala)
c.15463A>G (p.Thr5155Ala)
c.15460A>G (p.Thr5154Ala)
c.15382A>G (p.Thr5128Ala)
c.15367A>G (p.Thr5123Ala)
c.15283A>G (p.Thr5095Ala)
c.*396A>G (n.*396A>G)
c.8581A>G (p.Thr2861Ala)
c.8560A>G (p.Thr2854Ala)
n.15458A>G
5g.90810702A>TCA360409472ADGRV1c.15442A>T (p.Thr5148Ser)
c.4396A>T (p.Thr1466Ser)
n.2709A>T
c.265+134493A>T (n.265+134493A>T)
c.1852A>T (p.Thr618Ser)
c.2425A>T (p.Thr809Ser)
n.15455A>T
c.15439A>T (p.Thr5147Ser)
c.15361A>T (p.Thr5121Ser)
c.12745A>T (p.Thr4249Ser)
c.15463A>T (p.Thr5155Ser)
c.15460A>T (p.Thr5154Ser)
c.15382A>T (p.Thr5128Ser)
c.15367A>T (p.Thr5123Ser)
c.15283A>T (p.Thr5095Ser)
c.*396A>T (n.*396A>T)
c.8581A>T (p.Thr2861Ser)
c.8560A>T (p.Thr2854Ser)
n.15458A>T
 dbSNP
5g.90810703C>ACA360409474ADGRV1c.15443C>A (p.Thr5148Lys)
c.4397C>A (p.Thr1466Lys)
n.2710C>A
c.265+134494C>A (n.265+134494C>A)
c.1853C>A (p.Thr618Lys)
c.2426C>A (p.Thr809Lys)
n.15456C>A
c.15440C>A (p.Thr5147Lys)
c.15362C>A (p.Thr5121Lys)
c.12746C>A (p.Thr4249Lys)
c.15464C>A (p.Thr5155Lys)
c.15461C>A (p.Thr5154Lys)
c.15383C>A (p.Thr5128Lys)
c.15368C>A (p.Thr5123Lys)
c.15284C>A (p.Thr5095Lys)
c.*397C>A (n.*397C>A)
c.8582C>A (p.Thr2861Lys)
c.8561C>A (p.Thr2854Lys)
n.15459C>A
5g.90810703C=CA1562911500ADGRV1c.15443C= (p.Thr5148=)
c.4397C= (p.Thr1466=)
n.2710C=
c.265+134494C= (n.265+134494C=)
c.1853C= (p.Thr618=)
c.2426C= (p.Thr809=)
n.15456C=
c.15440C= (p.Thr5147=)
c.15362C= (p.Thr5121=)
c.12746C= (p.Thr4249=)
c.15464C= (p.Thr5155=)
c.15461C= (p.Thr5154=)
c.15383C= (p.Thr5128=)
c.15368C= (p.Thr5123=)
c.15284C= (p.Thr5095=)
c.*397C= (n.*397C=)
c.8582C= (p.Thr2861=)
c.8561C= (p.Thr2854=)
n.15459C=
5g.90810703C>GCA3341924ADGRV1c.15443C>G (p.Thr5148Arg)
c.4397C>G (p.Thr1466Arg)
n.2710C>G
c.265+134494C>G (n.265+134494C>G)
c.1853C>G (p.Thr618Arg)
c.2426C>G (p.Thr809Arg)
n.15456C>G
c.15440C>G (p.Thr5147Arg)
c.15362C>G (p.Thr5121Arg)
c.12746C>G (p.Thr4249Arg)
c.15464C>G (p.Thr5155Arg)
c.15461C>G (p.Thr5154Arg)
c.15383C>G (p.Thr5128Arg)
c.15368C>G (p.Thr5123Arg)
c.15284C>G (p.Thr5095Arg)
c.*397C>G (n.*397C>G)
c.8582C>G (p.Thr2861Arg)
c.8561C>G (p.Thr2854Arg)
n.15459C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810703C>TCA360409493ADGRV1c.15443C>T (p.Thr5148Ile)
c.4397C>T (p.Thr1466Ile)
n.2710C>T
c.265+134494C>T (n.265+134494C>T)
c.1853C>T (p.Thr618Ile)
c.2426C>T (p.Thr809Ile)
n.15456C>T
c.15440C>T (p.Thr5147Ile)
c.15362C>T (p.Thr5121Ile)
c.12746C>T (p.Thr4249Ile)
c.15464C>T (p.Thr5155Ile)
c.15461C>T (p.Thr5154Ile)
c.15383C>T (p.Thr5128Ile)
c.15368C>T (p.Thr5123Ile)
c.15284C>T (p.Thr5095Ile)
c.*397C>T (n.*397C>T)
c.8582C>T (p.Thr2861Ile)
c.8561C>T (p.Thr2854Ile)
n.15459C>T
5g.90810704A>CCA445468220ADGRV1c.15444A>C (p.Thr5148=)
c.4398A>C (p.Thr1466=)
n.2711A>C
c.265+134495A>C (n.265+134495A>C)
c.1854A>C (p.Thr618=)
c.2427A>C (p.Thr809=)
n.15457A>C
c.15441A>C (p.Thr5147=)
c.15363A>C (p.Thr5121=)
c.12747A>C (p.Thr4249=)
c.15465A>C (p.Thr5155=)
c.15462A>C (p.Thr5154=)
c.15384A>C (p.Thr5128=)
c.15369A>C (p.Thr5123=)
c.15285A>C (p.Thr5095=)
c.*398A>C (n.*398A>C)
c.8583A>C (p.Thr2861=)
c.8562A>C (p.Thr2854=)
n.15460A>C
5g.90810704A>GCA445468221ADGRV1c.15444A>G (p.Thr5148=)
c.4398A>G (p.Thr1466=)
n.2711A>G
c.265+134495A>G (n.265+134495A>G)
c.1854A>G (p.Thr618=)
c.2427A>G (p.Thr809=)
n.15457A>G
c.15441A>G (p.Thr5147=)
c.15363A>G (p.Thr5121=)
c.12747A>G (p.Thr4249=)
c.15465A>G (p.Thr5155=)
c.15462A>G (p.Thr5154=)
c.15384A>G (p.Thr5128=)
c.15369A>G (p.Thr5123=)
c.15285A>G (p.Thr5095=)
c.*398A>G (n.*398A>G)
c.8583A>G (p.Thr2861=)
c.8562A>G (p.Thr2854=)
n.15460A>G
 gnomAD v4
5g.90810704A>TCA445468223ADGRV1c.15444A>T (p.Thr5148=)
c.4398A>T (p.Thr1466=)
n.2711A>T
c.265+134495A>T (n.265+134495A>T)
c.1854A>T (p.Thr618=)
c.2427A>T (p.Thr809=)
n.15457A>T
c.15441A>T (p.Thr5147=)
c.15363A>T (p.Thr5121=)
c.12747A>T (p.Thr4249=)
c.15465A>T (p.Thr5155=)
c.15462A>T (p.Thr5154=)
c.15384A>T (p.Thr5128=)
c.15369A>T (p.Thr5123=)
c.15285A>T (p.Thr5095=)
c.*398A>T (n.*398A>T)
c.8583A>T (p.Thr2861=)
c.8562A>T (p.Thr2854=)
n.15460A>T
5g.90810705A>CCA360409494ADGRV1c.15445A>C (p.Thr5149Pro)
c.4399A>C (p.Thr1467Pro)
n.2712A>C
c.265+134496A>C (n.265+134496A>C)
c.1855A>C (p.Thr619Pro)
c.2428A>C (p.Thr810Pro)
n.15458A>C
c.15442A>C (p.Thr5148Pro)
c.15364A>C (p.Thr5122Pro)
c.12748A>C (p.Thr4250Pro)
c.15466A>C (p.Thr5156Pro)
c.15463A>C (p.Thr5155Pro)
c.15385A>C (p.Thr5129Pro)
c.15370A>C (p.Thr5124Pro)
c.15286A>C (p.Thr5096Pro)
c.*399A>C (n.*399A>C)
c.8584A>C (p.Thr2862Pro)
c.8563A>C (p.Thr2855Pro)
n.15461A>C
5g.90810705A>GCA360409495ADGRV1c.15445A>G (p.Thr5149Ala)
c.4399A>G (p.Thr1467Ala)
n.2712A>G
c.265+134496A>G (n.265+134496A>G)
c.1855A>G (p.Thr619Ala)
c.2428A>G (p.Thr810Ala)
n.15458A>G
c.15442A>G (p.Thr5148Ala)
c.15364A>G (p.Thr5122Ala)
c.12748A>G (p.Thr4250Ala)
c.15466A>G (p.Thr5156Ala)
c.15463A>G (p.Thr5155Ala)
c.15385A>G (p.Thr5129Ala)
c.15370A>G (p.Thr5124Ala)
c.15286A>G (p.Thr5096Ala)
c.*399A>G (n.*399A>G)
c.8584A>G (p.Thr2862Ala)
c.8563A>G (p.Thr2855Ala)
n.15461A>G
5g.90810705A>TCA360409496ADGRV1c.15445A>T (p.Thr5149Ser)
c.4399A>T (p.Thr1467Ser)
n.2712A>T
c.265+134496A>T (n.265+134496A>T)
c.1855A>T (p.Thr619Ser)
c.2428A>T (p.Thr810Ser)
n.15458A>T
c.15442A>T (p.Thr5148Ser)
c.15364A>T (p.Thr5122Ser)
c.12748A>T (p.Thr4250Ser)
c.15466A>T (p.Thr5156Ser)
c.15463A>T (p.Thr5155Ser)
c.15385A>T (p.Thr5129Ser)
c.15370A>T (p.Thr5124Ser)
c.15286A>T (p.Thr5096Ser)
c.*399A>T (n.*399A>T)
c.8584A>T (p.Thr2862Ser)
c.8563A>T (p.Thr2855Ser)
n.15461A>T
5g.90810706C>ACA360409502ADGRV1c.15446C>A (p.Thr5149Asn)
c.4400C>A (p.Thr1467Asn)
n.2713C>A
c.265+134497C>A (n.265+134497C>A)
c.1856C>A (p.Thr619Asn)
c.2429C>A (p.Thr810Asn)
n.15459C>A
c.15443C>A (p.Thr5148Asn)
c.15365C>A (p.Thr5122Asn)
c.12749C>A (p.Thr4250Asn)
c.15467C>A (p.Thr5156Asn)
c.15464C>A (p.Thr5155Asn)
c.15386C>A (p.Thr5129Asn)
c.15371C>A (p.Thr5124Asn)
c.15287C>A (p.Thr5096Asn)
c.*400C>A (n.*400C>A)
c.8585C>A (p.Thr2862Asn)
c.8564C>A (p.Thr2855Asn)
n.15462C>A
5g.90810706C>GCA360409499ADGRV1c.15446C>G (p.Thr5149Ser)
c.4400C>G (p.Thr1467Ser)
n.2713C>G
c.265+134497C>G (n.265+134497C>G)
c.1856C>G (p.Thr619Ser)
c.2429C>G (p.Thr810Ser)
n.15459C>G
c.15443C>G (p.Thr5148Ser)
c.15365C>G (p.Thr5122Ser)
c.12749C>G (p.Thr4250Ser)
c.15467C>G (p.Thr5156Ser)
c.15464C>G (p.Thr5155Ser)
c.15386C>G (p.Thr5129Ser)
c.15371C>G (p.Thr5124Ser)
c.15287C>G (p.Thr5096Ser)
c.*400C>G (n.*400C>G)
c.8585C>G (p.Thr2862Ser)
c.8564C>G (p.Thr2855Ser)
n.15462C>G
5g.90810706C>TCA360409498ADGRV1c.15446C>T (p.Thr5149Ile)
c.4400C>T (p.Thr1467Ile)
n.2713C>T
c.265+134497C>T (n.265+134497C>T)
c.1856C>T (p.Thr619Ile)
c.2429C>T (p.Thr810Ile)
n.15459C>T
c.15443C>T (p.Thr5148Ile)
c.15365C>T (p.Thr5122Ile)
c.12749C>T (p.Thr4250Ile)
c.15467C>T (p.Thr5156Ile)
c.15464C>T (p.Thr5155Ile)
c.15386C>T (p.Thr5129Ile)
c.15371C>T (p.Thr5124Ile)
c.15287C>T (p.Thr5096Ile)
c.*400C>T (n.*400C>T)
c.8585C>T (p.Thr2862Ile)
c.8564C>T (p.Thr2855Ile)
n.15462C>T
5g.90810709_90810710delCA2695204720ADGRV1c.15449_15450del (p.Leu5150HisfsTer6)
c.4403_4404del (p.Leu1468HisfsTer6)
n.2716_2717del
c.265+134500_265+134501del (n.265+134500_265+134501del)
c.1859_1860del (p.Leu620HisfsTer6)
c.2432_2433del (p.Leu811HisfsTer6)
n.15462_15463del
c.15446_15447del (p.Leu5149HisfsTer6)
c.15368_15369del (p.Leu5123HisfsTer6)
c.12752_12753del (p.Leu4251HisfsTer6)
c.15470_15471del (p.Leu5157HisfsTer6)
c.15467_15468del (p.Leu5156HisfsTer6)
c.15389_15390del (p.Leu5130HisfsTer6)
c.15374_15375del (p.Leu5125HisfsTer6)
c.15290_15291del (p.Leu5097HisfsTer6)
c.*403_*404del (n.*403_*404del)
c.8588_8589del (p.Leu2863HisfsTer6)
c.8567_8568del (p.Leu2856HisfsTer6)
n.15465_15466del
5g.90810707T>ACA445468228ADGRV1c.15447T>A (p.Thr5149=)
c.4401T>A (p.Thr1467=)
n.2714T>A
c.265+134498T>A (n.265+134498T>A)
c.1857T>A (p.Thr619=)
c.2430T>A (p.Thr810=)
n.15460T>A
c.15444T>A (p.Thr5148=)
c.15366T>A (p.Thr5122=)
c.12750T>A (p.Thr4250=)
c.15468T>A (p.Thr5156=)
c.15465T>A (p.Thr5155=)
c.15387T>A (p.Thr5129=)
c.15372T>A (p.Thr5124=)
c.15288T>A (p.Thr5096=)
c.*401T>A (n.*401T>A)
c.8586T>A (p.Thr2862=)
c.8565T>A (p.Thr2855=)
n.15463T>A
5g.90810707T>CCA445468233ADGRV1c.15447T>C (p.Thr5149=)
c.4401T>C (p.Thr1467=)
n.2714T>C
c.265+134498T>C (n.265+134498T>C)
c.1857T>C (p.Thr619=)
c.2430T>C (p.Thr810=)
n.15460T>C
c.15444T>C (p.Thr5148=)
c.15366T>C (p.Thr5122=)
c.12750T>C (p.Thr4250=)
c.15468T>C (p.Thr5156=)
c.15465T>C (p.Thr5155=)
c.15387T>C (p.Thr5129=)
c.15372T>C (p.Thr5124=)
c.15288T>C (p.Thr5096=)
c.*401T>C (n.*401T>C)
c.8586T>C (p.Thr2862=)
c.8565T>C (p.Thr2855=)
n.15463T>C
 gnomAD v4
5g.90810707T>GCA445468240ADGRV1c.15447T>G (p.Thr5149=)
c.4401T>G (p.Thr1467=)
n.2714T>G
c.265+134498T>G (n.265+134498T>G)
c.1857T>G (p.Thr619=)
c.2430T>G (p.Thr810=)
n.15460T>G
c.15444T>G (p.Thr5148=)
c.15366T>G (p.Thr5122=)
c.12750T>G (p.Thr4250=)
c.15468T>G (p.Thr5156=)
c.15465T>G (p.Thr5155=)
c.15387T>G (p.Thr5129=)
c.15372T>G (p.Thr5124=)
c.15288T>G (p.Thr5096=)
c.*401T>G (n.*401T>G)
c.8586T>G (p.Thr2862=)
c.8565T>G (p.Thr2855=)
n.15463T>G
5g.90810708C>ACA360409505ADGRV1c.15448C>A (p.Leu5150Ile)
c.4402C>A (p.Leu1468Ile)
n.2715C>A
c.265+134499C>A (n.265+134499C>A)
c.1858C>A (p.Leu620Ile)
c.2431C>A (p.Leu811Ile)
n.15461C>A
c.15445C>A (p.Leu5149Ile)
c.15367C>A (p.Leu5123Ile)
c.12751C>A (p.Leu4251Ile)
c.15469C>A (p.Leu5157Ile)
c.15466C>A (p.Leu5156Ile)
c.15388C>A (p.Leu5130Ile)
c.15373C>A (p.Leu5125Ile)
c.15289C>A (p.Leu5097Ile)
c.*402C>A (n.*402C>A)
c.8587C>A (p.Leu2863Ile)
c.8566C>A (p.Leu2856Ile)
n.15464C>A
5g.90810708C>GCA360409506ADGRV1c.15448C>G (p.Leu5150Val)
c.4402C>G (p.Leu1468Val)
n.2715C>G
c.265+134499C>G (n.265+134499C>G)
c.1858C>G (p.Leu620Val)
c.2431C>G (p.Leu811Val)
n.15461C>G
c.15445C>G (p.Leu5149Val)
c.15367C>G (p.Leu5123Val)
c.12751C>G (p.Leu4251Val)
c.15469C>G (p.Leu5157Val)
c.15466C>G (p.Leu5156Val)
c.15388C>G (p.Leu5130Val)
c.15373C>G (p.Leu5125Val)
c.15289C>G (p.Leu5097Val)
c.*402C>G (n.*402C>G)
c.8587C>G (p.Leu2863Val)
c.8566C>G (p.Leu2856Val)
n.15464C>G
5g.90810708C>TCA360409508ADGRV1c.15448C>T (p.Leu5150Phe)
c.4402C>T (p.Leu1468Phe)
n.2715C>T
c.265+134499C>T (n.265+134499C>T)
c.1858C>T (p.Leu620Phe)
c.2431C>T (p.Leu811Phe)
n.15461C>T
c.15445C>T (p.Leu5149Phe)
c.15367C>T (p.Leu5123Phe)
c.12751C>T (p.Leu4251Phe)
c.15469C>T (p.Leu5157Phe)
c.15466C>T (p.Leu5156Phe)
c.15388C>T (p.Leu5130Phe)
c.15373C>T (p.Leu5125Phe)
c.15289C>T (p.Leu5097Phe)
c.*402C>T (n.*402C>T)
c.8587C>T (p.Leu2863Phe)
c.8566C>T (p.Leu2856Phe)
n.15464C>T
5g.90810709T>ACA360409511ADGRV1c.15449T>A (p.Leu5150His)
c.4403T>A (p.Leu1468His)
n.2716T>A
c.265+134500T>A (n.265+134500T>A)
c.1859T>A (p.Leu620His)
c.2432T>A (p.Leu811His)
n.15462T>A
c.15446T>A (p.Leu5149His)
c.15368T>A (p.Leu5123His)
c.12752T>A (p.Leu4251His)
c.15470T>A (p.Leu5157His)
c.15467T>A (p.Leu5156His)
c.15389T>A (p.Leu5130His)
c.15374T>A (p.Leu5125His)
c.15290T>A (p.Leu5097His)
c.*403T>A (n.*403T>A)
c.8588T>A (p.Leu2863His)
c.8567T>A (p.Leu2856His)
n.15465T>A
5g.90810709T>CCA360409513ADGRV1c.15449T>C (p.Leu5150Pro)
c.4403T>C (p.Leu1468Pro)
n.2716T>C
c.265+134500T>C (n.265+134500T>C)
c.1859T>C (p.Leu620Pro)
c.2432T>C (p.Leu811Pro)
n.15462T>C
c.15446T>C (p.Leu5149Pro)
c.15368T>C (p.Leu5123Pro)
c.12752T>C (p.Leu4251Pro)
c.15470T>C (p.Leu5157Pro)
c.15467T>C (p.Leu5156Pro)
c.15389T>C (p.Leu5130Pro)
c.15374T>C (p.Leu5125Pro)
c.15290T>C (p.Leu5097Pro)
c.*403T>C (n.*403T>C)
c.8588T>C (p.Leu2863Pro)
c.8567T>C (p.Leu2856Pro)
n.15465T>C
5g.90810709T>GCA360409514ADGRV1c.15449T>G (p.Leu5150Arg)
c.4403T>G (p.Leu1468Arg)
n.2716T>G
c.265+134500T>G (n.265+134500T>G)
c.1859T>G (p.Leu620Arg)
c.2432T>G (p.Leu811Arg)
n.15462T>G
c.15446T>G (p.Leu5149Arg)
c.15368T>G (p.Leu5123Arg)
c.12752T>G (p.Leu4251Arg)
c.15470T>G (p.Leu5157Arg)
c.15467T>G (p.Leu5156Arg)
c.15389T>G (p.Leu5130Arg)
c.15374T>G (p.Leu5125Arg)
c.15290T>G (p.Leu5097Arg)
c.*403T>G (n.*403T>G)
c.8588T>G (p.Leu2863Arg)
c.8567T>G (p.Leu2856Arg)
n.15465T>G
5g.90810710C>ACA445468251ADGRV1c.15450C>A (p.Leu5150=)
c.4404C>A (p.Leu1468=)
n.2717C>A
c.265+134501C>A (n.265+134501C>A)
c.1860C>A (p.Leu620=)
c.2433C>A (p.Leu811=)
n.15463C>A
c.15447C>A (p.Leu5149=)
c.15369C>A (p.Leu5123=)
c.12753C>A (p.Leu4251=)
c.15471C>A (p.Leu5157=)
c.15468C>A (p.Leu5156=)
c.15390C>A (p.Leu5130=)
c.15375C>A (p.Leu5125=)
c.15291C>A (p.Leu5097=)
c.*404C>A (n.*404C>A)
c.8589C>A (p.Leu2863=)
c.8568C>A (p.Leu2856=)
n.15466C>A
5g.90810710C>GCA445468257ADGRV1c.15450C>G (p.Leu5150=)
c.4404C>G (p.Leu1468=)
n.2717C>G
c.265+134501C>G (n.265+134501C>G)
c.1860C>G (p.Leu620=)
c.2433C>G (p.Leu811=)
n.15463C>G
c.15447C>G (p.Leu5149=)
c.15369C>G (p.Leu5123=)
c.12753C>G (p.Leu4251=)
c.15471C>G (p.Leu5157=)
c.15468C>G (p.Leu5156=)
c.15390C>G (p.Leu5130=)
c.15375C>G (p.Leu5125=)
c.15291C>G (p.Leu5097=)
c.*404C>G (n.*404C>G)
c.8589C>G (p.Leu2863=)
c.8568C>G (p.Leu2856=)
n.15466C>G
5g.90810710C>TCA445468258ADGRV1c.15450C>T (p.Leu5150=)
c.4404C>T (p.Leu1468=)
n.2717C>T
c.265+134501C>T (n.265+134501C>T)
c.1860C>T (p.Leu620=)
c.2433C>T (p.Leu811=)
n.15463C>T
c.15447C>T (p.Leu5149=)
c.15369C>T (p.Leu5123=)
c.12753C>T (p.Leu4251=)
c.15471C>T (p.Leu5157=)
c.15468C>T (p.Leu5156=)
c.15390C>T (p.Leu5130=)
c.15375C>T (p.Leu5125=)
c.15291C>T (p.Leu5097=)
c.*404C>T (n.*404C>T)
c.8589C>T (p.Leu2863=)
c.8568C>T (p.Leu2856=)
n.15466C>T
5g.90810711A>CCA360409516ADGRV1c.15451A>C (p.Ile5151Leu)
c.4405A>C (p.Ile1469Leu)
n.2718A>C
c.265+134502A>C (n.265+134502A>C)
c.1861A>C (p.Ile621Leu)
c.2434A>C (p.Ile812Leu)
n.15464A>C
c.15448A>C (p.Ile5150Leu)
c.15370A>C (p.Ile5124Leu)
c.12754A>C (p.Ile4252Leu)
c.15472A>C (p.Ile5158Leu)
c.15469A>C (p.Ile5157Leu)
c.15391A>C (p.Ile5131Leu)
c.15376A>C (p.Ile5126Leu)
c.15292A>C (p.Ile5098Leu)
c.*405A>C (n.*405A>C)
c.8590A>C (p.Ile2864Leu)
c.8569A>C (p.Ile2857Leu)
n.15467A>C
5g.90810711A>GCA360409518ADGRV1c.15451A>G (p.Ile5151Val)
c.4405A>G (p.Ile1469Val)
n.2718A>G
c.265+134502A>G (n.265+134502A>G)
c.1861A>G (p.Ile621Val)
c.2434A>G (p.Ile812Val)
n.15464A>G
c.15448A>G (p.Ile5150Val)
c.15370A>G (p.Ile5124Val)
c.12754A>G (p.Ile4252Val)
c.15472A>G (p.Ile5158Val)
c.15469A>G (p.Ile5157Val)
c.15391A>G (p.Ile5131Val)
c.15376A>G (p.Ile5126Val)
c.15292A>G (p.Ile5098Val)
c.*405A>G (n.*405A>G)
c.8590A>G (p.Ile2864Val)
c.8569A>G (p.Ile2857Val)
n.15467A>G
5g.90810711A>TCA360409519ADGRV1c.15451A>T (p.Ile5151Phe)
c.4405A>T (p.Ile1469Phe)
n.2718A>T
c.265+134502A>T (n.265+134502A>T)
c.1861A>T (p.Ile621Phe)
c.2434A>T (p.Ile812Phe)
n.15464A>T
c.15448A>T (p.Ile5150Phe)
c.15370A>T (p.Ile5124Phe)
c.12754A>T (p.Ile4252Phe)
c.15472A>T (p.Ile5158Phe)
c.15469A>T (p.Ile5157Phe)
c.15391A>T (p.Ile5131Phe)
c.15376A>T (p.Ile5126Phe)
c.15292A>T (p.Ile5098Phe)
c.*405A>T (n.*405A>T)
c.8590A>T (p.Ile2864Phe)
c.8569A>T (p.Ile2857Phe)
n.15467A>T
5g.90810712T>ACA360409522ADGRV1c.15452T>A (p.Ile5151Asn)
c.4406T>A (p.Ile1469Asn)
n.2719T>A
c.265+134503T>A (n.265+134503T>A)
c.1862T>A (p.Ile621Asn)
c.2435T>A (p.Ile812Asn)
n.15465T>A
c.15449T>A (p.Ile5150Asn)
c.15371T>A (p.Ile5124Asn)
c.12755T>A (p.Ile4252Asn)
c.15473T>A (p.Ile5158Asn)
c.15470T>A (p.Ile5157Asn)
c.15392T>A (p.Ile5131Asn)
c.15377T>A (p.Ile5126Asn)
c.15293T>A (p.Ile5098Asn)
c.*406T>A (n.*406T>A)
c.8591T>A (p.Ile2864Asn)
c.8570T>A (p.Ile2857Asn)
n.15468T>A
5g.90810712T>CCA360409524ADGRV1c.15452T>C (p.Ile5151Thr)
c.4406T>C (p.Ile1469Thr)
n.2719T>C
c.265+134503T>C (n.265+134503T>C)
c.1862T>C (p.Ile621Thr)
c.2435T>C (p.Ile812Thr)
n.15465T>C
c.15449T>C (p.Ile5150Thr)
c.15371T>C (p.Ile5124Thr)
c.12755T>C (p.Ile4252Thr)
c.15473T>C (p.Ile5158Thr)
c.15470T>C (p.Ile5157Thr)
c.15392T>C (p.Ile5131Thr)
c.15377T>C (p.Ile5126Thr)
c.15293T>C (p.Ile5098Thr)
c.*406T>C (n.*406T>C)
c.8591T>C (p.Ile2864Thr)
c.8570T>C (p.Ile2857Thr)
n.15468T>C
5g.90810712T>GCA360409528ADGRV1c.15452T>G (p.Ile5151Ser)
c.4406T>G (p.Ile1469Ser)
n.2719T>G
c.265+134503T>G (n.265+134503T>G)
c.1862T>G (p.Ile621Ser)
c.2435T>G (p.Ile812Ser)
n.15465T>G
c.15449T>G (p.Ile5150Ser)
c.15371T>G (p.Ile5124Ser)
c.12755T>G (p.Ile4252Ser)
c.15473T>G (p.Ile5158Ser)
c.15470T>G (p.Ile5157Ser)
c.15392T>G (p.Ile5131Ser)
c.15377T>G (p.Ile5126Ser)
c.15293T>G (p.Ile5098Ser)
c.*406T>G (n.*406T>G)
c.8591T>G (p.Ile2864Ser)
c.8570T>G (p.Ile2857Ser)
n.15468T>G
5g.90810713T>ACA445468267ADGRV1c.15453T>A (p.Ile5151=)
c.4407T>A (p.Ile1469=)
n.2720T>A
c.265+134504T>A (n.265+134504T>A)
c.1863T>A (p.Ile621=)
c.2436T>A (p.Ile812=)
n.15466T>A
c.15450T>A (p.Ile5150=)
c.15372T>A (p.Ile5124=)
c.12756T>A (p.Ile4252=)
c.15474T>A (p.Ile5158=)
c.15471T>A (p.Ile5157=)
c.15393T>A (p.Ile5131=)
c.15378T>A (p.Ile5126=)
c.15294T>A (p.Ile5098=)
c.*407T>A (n.*407T>A)
c.8592T>A (p.Ile2864=)
c.8571T>A (p.Ile2857=)
n.15469T>A
5g.90810713T>CCA445468271ADGRV1c.15453T>C (p.Ile5151=)
c.4407T>C (p.Ile1469=)
n.2720T>C
c.265+134504T>C (n.265+134504T>C)
c.1863T>C (p.Ile621=)
c.2436T>C (p.Ile812=)
n.15466T>C
c.15450T>C (p.Ile5150=)
c.15372T>C (p.Ile5124=)
c.12756T>C (p.Ile4252=)
c.15474T>C (p.Ile5158=)
c.15471T>C (p.Ile5157=)
c.15393T>C (p.Ile5131=)
c.15378T>C (p.Ile5126=)
c.15294T>C (p.Ile5098=)
c.*407T>C (n.*407T>C)
c.8592T>C (p.Ile2864=)
c.8571T>C (p.Ile2857=)
n.15469T>C
5g.90810713T>GCA360409531ADGRV1c.15453T>G (p.Ile5151Met)
c.4407T>G (p.Ile1469Met)
n.2720T>G
c.265+134504T>G (n.265+134504T>G)
c.1863T>G (p.Ile621Met)
c.2436T>G (p.Ile812Met)
n.15466T>G
c.15450T>G (p.Ile5150Met)
c.15372T>G (p.Ile5124Met)
c.12756T>G (p.Ile4252Met)
c.15474T>G (p.Ile5158Met)
c.15471T>G (p.Ile5157Met)
c.15393T>G (p.Ile5131Met)
c.15378T>G (p.Ile5126Met)
c.15294T>G (p.Ile5098Met)
c.*407T>G (n.*407T>G)
c.8592T>G (p.Ile2864Met)
c.8571T>G (p.Ile2857Met)
n.15469T>G
5g.90810714C>ACA360409535ADGRV1c.15454C>A (p.Pro5152Thr)
c.4408C>A (p.Pro1470Thr)
n.2721C>A
c.265+134505C>A (n.265+134505C>A)
c.1864C>A (p.Pro622Thr)
c.2437C>A (p.Pro813Thr)
n.15467C>A
c.15451C>A (p.Pro5151Thr)
c.15373C>A (p.Pro5125Thr)
c.12757C>A (p.Pro4253Thr)
c.15475C>A (p.Pro5159Thr)
c.15472C>A (p.Pro5158Thr)
c.15394C>A (p.Pro5132Thr)
c.15379C>A (p.Pro5127Thr)
c.15295C>A (p.Pro5099Thr)
c.*408C>A (n.*408C>A)
c.8593C>A (p.Pro2865Thr)
c.8572C>A (p.Pro2858Thr)
n.15470C>A
5g.90810714C=CA1562911501ADGRV1c.15454C= (p.Pro5152=)
c.4408C= (p.Pro1470=)
n.2721C=
c.265+134505C= (n.265+134505C=)
c.1864C= (p.Pro622=)
c.2437C= (p.Pro813=)
n.15467C=
c.15451C= (p.Pro5151=)
c.15373C= (p.Pro5125=)
c.12757C= (p.Pro4253=)
c.15475C= (p.Pro5159=)
c.15472C= (p.Pro5158=)
c.15394C= (p.Pro5132=)
c.15379C= (p.Pro5127=)
c.15295C= (p.Pro5099=)
c.*408C= (n.*408C=)
c.8593C= (p.Pro2865=)
c.8572C= (p.Pro2858=)
n.15470C=
5g.90810714C>GCA360409537ADGRV1c.15454C>G (p.Pro5152Ala)
c.4408C>G (p.Pro1470Ala)
n.2721C>G
c.265+134505C>G (n.265+134505C>G)
c.1864C>G (p.Pro622Ala)
c.2437C>G (p.Pro813Ala)
n.15467C>G
c.15451C>G (p.Pro5151Ala)
c.15373C>G (p.Pro5125Ala)
c.12757C>G (p.Pro4253Ala)
c.15475C>G (p.Pro5159Ala)
c.15472C>G (p.Pro5158Ala)
c.15394C>G (p.Pro5132Ala)
c.15379C>G (p.Pro5127Ala)
c.15295C>G (p.Pro5099Ala)
c.*408C>G (n.*408C>G)
c.8593C>G (p.Pro2865Ala)
c.8572C>G (p.Pro2858Ala)
n.15470C>G
5g.90810714C>TCA3341925ADGRV1c.15454C>T (p.Pro5152Ser)
c.4408C>T (p.Pro1470Ser)
n.2721C>T
c.265+134505C>T (n.265+134505C>T)
c.1864C>T (p.Pro622Ser)
c.2437C>T (p.Pro813Ser)
n.15467C>T
c.15451C>T (p.Pro5151Ser)
c.15373C>T (p.Pro5125Ser)
c.12757C>T (p.Pro4253Ser)
c.15475C>T (p.Pro5159Ser)
c.15472C>T (p.Pro5158Ser)
c.15394C>T (p.Pro5132Ser)
c.15379C>T (p.Pro5127Ser)
c.15295C>T (p.Pro5099Ser)
c.*408C>T (n.*408C>T)
c.8593C>T (p.Pro2865Ser)
c.8572C>T (p.Pro2858Ser)
n.15470C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810715C>ACA360409539ADGRV1c.15455C>A (p.Pro5152His)
c.4409C>A (p.Pro1470His)
n.2722C>A
c.265+134506C>A (n.265+134506C>A)
c.1865C>A (p.Pro622His)
c.2438C>A (p.Pro813His)
n.15468C>A
c.15452C>A (p.Pro5151His)
c.15374C>A (p.Pro5125His)
c.12758C>A (p.Pro4253His)
c.15476C>A (p.Pro5159His)
c.15473C>A (p.Pro5158His)
c.15395C>A (p.Pro5132His)
c.15380C>A (p.Pro5127His)
c.15296C>A (p.Pro5099His)
c.*409C>A (n.*409C>A)
c.8594C>A (p.Pro2865His)
c.8573C>A (p.Pro2858His)
n.15471C>A
5g.90810715C=CA1562911502ADGRV1c.15455C= (p.Pro5152=)
c.4409C= (p.Pro1470=)
n.2722C=
c.265+134506C= (n.265+134506C=)
c.1865C= (p.Pro622=)
c.2438C= (p.Pro813=)
n.15468C=
c.15452C= (p.Pro5151=)
c.15374C= (p.Pro5125=)
c.12758C= (p.Pro4253=)
c.15476C= (p.Pro5159=)
c.15473C= (p.Pro5158=)
c.15395C= (p.Pro5132=)
c.15380C= (p.Pro5127=)
c.15296C= (p.Pro5099=)
c.*409C= (n.*409C=)
c.8594C= (p.Pro2865=)
c.8573C= (p.Pro2858=)
n.15471C=
5g.90810715C>GCA3341926ADGRV1c.15455C>G (p.Pro5152Arg)
c.4409C>G (p.Pro1470Arg)
n.2722C>G
c.265+134506C>G (n.265+134506C>G)
c.1865C>G (p.Pro622Arg)
c.2438C>G (p.Pro813Arg)
n.15468C>G
c.15452C>G (p.Pro5151Arg)
c.15374C>G (p.Pro5125Arg)
c.12758C>G (p.Pro4253Arg)
c.15476C>G (p.Pro5159Arg)
c.15473C>G (p.Pro5158Arg)
c.15395C>G (p.Pro5132Arg)
c.15380C>G (p.Pro5127Arg)
c.15296C>G (p.Pro5099Arg)
c.*409C>G (n.*409C>G)
c.8594C>G (p.Pro2865Arg)
c.8573C>G (p.Pro2858Arg)
n.15471C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810715C>TCA360409541ADGRV1c.15455C>T (p.Pro5152Leu)
c.4409C>T (p.Pro1470Leu)
n.2722C>T
c.265+134506C>T (n.265+134506C>T)
c.1865C>T (p.Pro622Leu)
c.2438C>T (p.Pro813Leu)
n.15468C>T
c.15452C>T (p.Pro5151Leu)
c.15374C>T (p.Pro5125Leu)
c.12758C>T (p.Pro4253Leu)
c.15476C>T (p.Pro5159Leu)
c.15473C>T (p.Pro5158Leu)
c.15395C>T (p.Pro5132Leu)
c.15380C>T (p.Pro5127Leu)
c.15296C>T (p.Pro5099Leu)
c.*409C>T (n.*409C>T)
c.8594C>T (p.Pro2865Leu)
c.8573C>T (p.Pro2858Leu)
n.15471C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90810716T>ACA445468278ADGRV1c.15456T>A (p.Pro5152=)
c.4410T>A (p.Pro1470=)
n.2723T>A
c.265+134507T>A (n.265+134507T>A)
c.1866T>A (p.Pro622=)
c.2439T>A (p.Pro813=)
n.15469T>A
c.15453T>A (p.Pro5151=)
c.15375T>A (p.Pro5125=)
c.12759T>A (p.Pro4253=)
c.15477T>A (p.Pro5159=)
c.15474T>A (p.Pro5158=)
c.15396T>A (p.Pro5132=)
c.15381T>A (p.Pro5127=)
c.15297T>A (p.Pro5099=)
c.*410T>A (n.*410T>A)
c.8595T>A (p.Pro2865=)
c.8574T>A (p.Pro2858=)
n.15472T>A
5g.90810716T>CCA445468280ADGRV1c.15456T>C (p.Pro5152=)
c.4410T>C (p.Pro1470=)
n.2723T>C
c.265+134507T>C (n.265+134507T>C)
c.1866T>C (p.Pro622=)
c.2439T>C (p.Pro813=)
n.15469T>C
c.15453T>C (p.Pro5151=)
c.15375T>C (p.Pro5125=)
c.12759T>C (p.Pro4253=)
c.15477T>C (p.Pro5159=)
c.15474T>C (p.Pro5158=)
c.15396T>C (p.Pro5132=)
c.15381T>C (p.Pro5127=)
c.15297T>C (p.Pro5099=)
c.*410T>C (n.*410T>C)
c.8595T>C (p.Pro2865=)
c.8574T>C (p.Pro2858=)
n.15472T>C
5g.90810716T>GCA445468281ADGRV1c.15456T>G (p.Pro5152=)
c.4410T>G (p.Pro1470=)
n.2723T>G
c.265+134507T>G (n.265+134507T>G)
c.1866T>G (p.Pro622=)
c.2439T>G (p.Pro813=)
n.15469T>G
c.15453T>G (p.Pro5151=)
c.15375T>G (p.Pro5125=)
c.12759T>G (p.Pro4253=)
c.15477T>G (p.Pro5159=)
c.15474T>G (p.Pro5158=)
c.15396T>G (p.Pro5132=)
c.15381T>G (p.Pro5127=)
c.15297T>G (p.Pro5099=)
c.*410T>G (n.*410T>G)
c.8595T>G (p.Pro2865=)
c.8574T>G (p.Pro2858=)
n.15472T>G
5g.90810717G>ACA360409543ADGRV1c.15457G>A (p.Val5153Ile)
c.4411G>A (p.Val1471Ile)
n.2724G>A
c.265+134508G>A (n.265+134508G>A)
c.1867G>A (p.Val623Ile)
c.2440G>A (p.Val814Ile)
n.15470G>A
c.15454G>A (p.Val5152Ile)
c.15376G>A (p.Val5126Ile)
c.12760G>A (p.Val4254Ile)
c.15478G>A (p.Val5160Ile)
c.15475G>A (p.Val5159Ile)
c.15397G>A (p.Val5133Ile)
c.15382G>A (p.Val5128Ile)
c.15298G>A (p.Val5100Ile)
c.*411G>A (n.*411G>A)
c.8596G>A (p.Val2866Ile)
c.8575G>A (p.Val2859Ile)
n.15473G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90810717G>CCA360409545ADGRV1c.15457G>C (p.Val5153Leu)
c.4411G>C (p.Val1471Leu)
n.2724G>C
c.265+134508G>C (n.265+134508G>C)
c.1867G>C (p.Val623Leu)
c.2440G>C (p.Val814Leu)
n.15470G>C
c.15454G>C (p.Val5152Leu)
c.15376G>C (p.Val5126Leu)
c.12760G>C (p.Val4254Leu)
c.15478G>C (p.Val5160Leu)
c.15475G>C (p.Val5159Leu)
c.15397G>C (p.Val5133Leu)
c.15382G>C (p.Val5128Leu)
c.15298G>C (p.Val5100Leu)
c.*411G>C (n.*411G>C)
c.8596G>C (p.Val2866Leu)
c.8575G>C (p.Val2859Leu)
n.15473G>C
5g.90810717G=CA1562911503ADGRV1c.15457G= (p.Val5153=)
c.4411G= (p.Val1471=)
n.2724G=
c.265+134508G= (n.265+134508G=)
c.1867G= (p.Val623=)
c.2440G= (p.Val814=)
n.15470G=
c.15454G= (p.Val5152=)
c.15376G= (p.Val5126=)
c.12760G= (p.Val4254=)
c.15478G= (p.Val5160=)
c.15475G= (p.Val5159=)
c.15397G= (p.Val5133=)
c.15382G= (p.Val5128=)
c.15298G= (p.Val5100=)
c.*411G= (n.*411G=)
c.8596G= (p.Val2866=)
c.8575G= (p.Val2859=)
n.15473G=
5g.90810717G>TCA360409547ADGRV1c.15457G>T (p.Val5153Leu)
c.4411G>T (p.Val1471Leu)
n.2724G>T
c.265+134508G>T (n.265+134508G>T)
c.1867G>T (p.Val623Leu)
c.2440G>T (p.Val814Leu)
n.15470G>T
c.15454G>T (p.Val5152Leu)
c.15376G>T (p.Val5126Leu)
c.12760G>T (p.Val4254Leu)
c.15478G>T (p.Val5160Leu)
c.15475G>T (p.Val5159Leu)
c.15397G>T (p.Val5133Leu)
c.15382G>T (p.Val5128Leu)
c.15298G>T (p.Val5100Leu)
c.*411G>T (n.*411G>T)
c.8596G>T (p.Val2866Leu)
c.8575G>T (p.Val2859Leu)
n.15473G>T
5g.90810718T>ACA360409553ADGRV1c.15458T>A (p.Val5153Glu)
c.4412T>A (p.Val1471Glu)
n.2725T>A
c.265+134509T>A (n.265+134509T>A)
c.1868T>A (p.Val623Glu)
c.2441T>A (p.Val814Glu)
n.15471T>A
c.15455T>A (p.Val5152Glu)
c.15377T>A (p.Val5126Glu)
c.12761T>A (p.Val4254Glu)
c.15479T>A (p.Val5160Glu)
c.15476T>A (p.Val5159Glu)
c.15398T>A (p.Val5133Glu)
c.15383T>A (p.Val5128Glu)
c.15299T>A (p.Val5100Glu)
c.*412T>A (n.*412T>A)
c.8597T>A (p.Val2866Glu)
c.8576T>A (p.Val2859Glu)
n.15474T>A
5g.90810718T>CCA360409560ADGRV1c.15458T>C (p.Val5153Ala)
c.4412T>C (p.Val1471Ala)
n.2725T>C
c.265+134509T>C (n.265+134509T>C)
c.1868T>C (p.Val623Ala)
c.2441T>C (p.Val814Ala)
n.15471T>C
c.15455T>C (p.Val5152Ala)
c.15377T>C (p.Val5126Ala)
c.12761T>C (p.Val4254Ala)
c.15479T>C (p.Val5160Ala)
c.15476T>C (p.Val5159Ala)
c.15398T>C (p.Val5133Ala)
c.15383T>C (p.Val5128Ala)
c.15299T>C (p.Val5100Ala)
c.*412T>C (n.*412T>C)
c.8597T>C (p.Val2866Ala)
c.8576T>C (p.Val2859Ala)
n.15474T>C
5g.90810718T>GCA360409558ADGRV1c.15458T>G (p.Val5153Gly)
c.4412T>G (p.Val1471Gly)
n.2725T>G
c.265+134509T>G (n.265+134509T>G)
c.1868T>G (p.Val623Gly)
c.2441T>G (p.Val814Gly)
n.15471T>G
c.15455T>G (p.Val5152Gly)
c.15377T>G (p.Val5126Gly)
c.12761T>G (p.Val4254Gly)
c.15479T>G (p.Val5160Gly)
c.15476T>G (p.Val5159Gly)
c.15398T>G (p.Val5133Gly)
c.15383T>G (p.Val5128Gly)
c.15299T>G (p.Val5100Gly)
c.*412T>G (n.*412T>G)
c.8597T>G (p.Val2866Gly)
c.8576T>G (p.Val2859Gly)
n.15474T>G
 dbSNP gnomAD v2
5g.90810718T=CA1562911504ADGRV1c.15458T= (p.Val5153=)
c.4412T= (p.Val1471=)
n.2725T=
c.265+134509T= (n.265+134509T=)
c.1868T= (p.Val623=)
c.2441T= (p.Val814=)
n.15471T=
c.15455T= (p.Val5152=)
c.15377T= (p.Val5126=)
c.12761T= (p.Val4254=)
c.15479T= (p.Val5160=)
c.15476T= (p.Val5159=)
c.15398T= (p.Val5133=)
c.15383T= (p.Val5128=)
c.15299T= (p.Val5100=)
c.*412T= (n.*412T=)
c.8597T= (p.Val2866=)
c.8576T= (p.Val2859=)
n.15474T=
5g.90810719A=CA1562911505ADGRV1c.15459A= (p.Val5153=)
c.4413A= (p.Val1471=)
n.2726A=
c.265+134510A= (n.265+134510A=)
c.1869A= (p.Val623=)
c.2442A= (p.Val814=)
n.15472A=
c.15456A= (p.Val5152=)
c.15378A= (p.Val5126=)
c.12762A= (p.Val4254=)
c.15480A= (p.Val5160=)
c.15477A= (p.Val5159=)
c.15399A= (p.Val5133=)
c.15384A= (p.Val5128=)
c.15300A= (p.Val5100=)
c.*413A= (n.*413A=)
c.8598A= (p.Val2866=)
c.8577A= (p.Val2859=)
n.15475A=
5g.90810719A>CCA445468283ADGRV1c.15459A>C (p.Val5153=)
c.4413A>C (p.Val1471=)
n.2726A>C
c.265+134510A>C (n.265+134510A>C)
c.1869A>C (p.Val623=)
c.2442A>C (p.Val814=)
n.15472A>C
c.15456A>C (p.Val5152=)
c.15378A>C (p.Val5126=)
c.12762A>C (p.Val4254=)
c.15480A>C (p.Val5160=)
c.15477A>C (p.Val5159=)
c.15399A>C (p.Val5133=)
c.15384A>C (p.Val5128=)
c.15300A>C (p.Val5100=)
c.*413A>C (n.*413A>C)
c.8598A>C (p.Val2866=)
c.8577A>C (p.Val2859=)
n.15475A>C
 dbSNP
5g.90810719A>GCA3341927ADGRV1c.15459A>G (p.Val5153=)
c.4413A>G (p.Val1471=)
n.2726A>G
c.265+134510A>G (n.265+134510A>G)
c.1869A>G (p.Val623=)
c.2442A>G (p.Val814=)
n.15472A>G
c.15456A>G (p.Val5152=)
c.15378A>G (p.Val5126=)
c.12762A>G (p.Val4254=)
c.15480A>G (p.Val5160=)
c.15477A>G (p.Val5159=)
c.15399A>G (p.Val5133=)
c.15384A>G (p.Val5128=)
c.15300A>G (p.Val5100=)
c.*413A>G (n.*413A>G)
c.8598A>G (p.Val2866=)
c.8577A>G (p.Val2859=)
n.15475A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810719A>TCA445468286ADGRV1c.15459A>T (p.Val5153=)
c.4413A>T (p.Val1471=)
n.2726A>T
c.265+134510A>T (n.265+134510A>T)
c.1869A>T (p.Val623=)
c.2442A>T (p.Val814=)
n.15472A>T
c.15456A>T (p.Val5152=)
c.15378A>T (p.Val5126=)
c.12762A>T (p.Val4254=)
c.15480A>T (p.Val5160=)
c.15477A>T (p.Val5159=)
c.15399A>T (p.Val5133=)
c.15384A>T (p.Val5128=)
c.15300A>T (p.Val5100=)
c.*413A>T (n.*413A>T)
c.8598A>T (p.Val2866=)
c.8577A>T (p.Val2859=)
n.15475A>T
5g.90810720G>ACA360409563ADGRV1c.15460G>A (p.Glu5154Lys)
c.4414G>A (p.Glu1472Lys)
n.2727G>A
c.265+134511G>A (n.265+134511G>A)
c.1870G>A (p.Glu624Lys)
c.2443G>A (p.Glu815Lys)
n.15473G>A
c.15457G>A (p.Glu5153Lys)
c.15379G>A (p.Glu5127Lys)
c.12763G>A (p.Glu4255Lys)
c.15481G>A (p.Glu5161Lys)
c.15478G>A (p.Glu5160Lys)
c.15400G>A (p.Glu5134Lys)
c.15385G>A (p.Glu5129Lys)
c.15301G>A (p.Glu5101Lys)
c.*414G>A (n.*414G>A)
c.8599G>A (p.Glu2867Lys)
c.8578G>A (p.Glu2860Lys)
n.15476G>A
5g.90810720G>CCA360409566ADGRV1c.15460G>C (p.Glu5154Gln)
c.4414G>C (p.Glu1472Gln)
n.2727G>C
c.265+134511G>C (n.265+134511G>C)
c.1870G>C (p.Glu624Gln)
c.2443G>C (p.Glu815Gln)
n.15473G>C
c.15457G>C (p.Glu5153Gln)
c.15379G>C (p.Glu5127Gln)
c.12763G>C (p.Glu4255Gln)
c.15481G>C (p.Glu5161Gln)
c.15478G>C (p.Glu5160Gln)
c.15400G>C (p.Glu5134Gln)
c.15385G>C (p.Glu5129Gln)
c.15301G>C (p.Glu5101Gln)
c.*414G>C (n.*414G>C)
c.8599G>C (p.Glu2867Gln)
c.8578G>C (p.Glu2860Gln)
n.15476G>C
 COSMIC
5g.90810720G>TCA360409568ADGRV1c.15460G>T (p.Glu5154Ter)
c.4414G>T (p.Glu1472Ter)
n.2727G>T
c.265+134511G>T (n.265+134511G>T)
c.1870G>T (p.Glu624Ter)
c.2443G>T (p.Glu815Ter)
n.15473G>T
c.15457G>T (p.Glu5153Ter)
c.15379G>T (p.Glu5127Ter)
c.12763G>T (p.Glu4255Ter)
c.15481G>T (p.Glu5161Ter)
c.15478G>T (p.Glu5160Ter)
c.15400G>T (p.Glu5134Ter)
c.15385G>T (p.Glu5129Ter)
c.15301G>T (p.Glu5101Ter)
c.*414G>T (n.*414G>T)
c.8599G>T (p.Glu2867Ter)
c.8578G>T (p.Glu2860Ter)
n.15476G>T
5g.90810721A>CCA360409580ADGRV1c.15461A>C (p.Glu5154Ala)
c.4415A>C (p.Glu1472Ala)
n.2728A>C
c.265+134512A>C (n.265+134512A>C)
c.1871A>C (p.Glu624Ala)
c.2444A>C (p.Glu815Ala)
n.15474A>C
c.15458A>C (p.Glu5153Ala)
c.15380A>C (p.Glu5127Ala)
c.12764A>C (p.Glu4255Ala)
c.15482A>C (p.Glu5161Ala)
c.15479A>C (p.Glu5160Ala)
c.15401A>C (p.Glu5134Ala)
c.15386A>C (p.Glu5129Ala)
c.15302A>C (p.Glu5101Ala)
c.*415A>C (n.*415A>C)
c.8600A>C (p.Glu2867Ala)
c.8579A>C (p.Glu2860Ala)
n.15477A>C
5g.90810721A>GCA360409579ADGRV1c.15461A>G (p.Glu5154Gly)
c.4415A>G (p.Glu1472Gly)
n.2728A>G
c.265+134512A>G (n.265+134512A>G)
c.1871A>G (p.Glu624Gly)
c.2444A>G (p.Glu815Gly)
n.15474A>G
c.15458A>G (p.Glu5153Gly)
c.15380A>G (p.Glu5127Gly)
c.12764A>G (p.Glu4255Gly)
c.15482A>G (p.Glu5161Gly)
c.15479A>G (p.Glu5160Gly)
c.15401A>G (p.Glu5134Gly)
c.15386A>G (p.Glu5129Gly)
c.15302A>G (p.Glu5101Gly)
c.*415A>G (n.*415A>G)
c.8600A>G (p.Glu2867Gly)
c.8579A>G (p.Glu2860Gly)
n.15477A>G
5g.90810721A>TCA360409574ADGRV1c.15461A>T (p.Glu5154Val)
c.4415A>T (p.Glu1472Val)
n.2728A>T
c.265+134512A>T (n.265+134512A>T)
c.1871A>T (p.Glu624Val)
c.2444A>T (p.Glu815Val)
n.15474A>T
c.15458A>T (p.Glu5153Val)
c.15380A>T (p.Glu5127Val)
c.12764A>T (p.Glu4255Val)
c.15482A>T (p.Glu5161Val)
c.15479A>T (p.Glu5160Val)
c.15401A>T (p.Glu5134Val)
c.15386A>T (p.Glu5129Val)
c.15302A>T (p.Glu5101Val)
c.*415A>T (n.*415A>T)
c.8600A>T (p.Glu2867Val)
c.8579A>T (p.Glu2860Val)
n.15477A>T
5g.90810722A>CCA360409582ADGRV1c.15462A>C (p.Glu5154Asp)
c.4416A>C (p.Glu1472Asp)
n.2729A>C
c.265+134513A>C (n.265+134513A>C)
c.1872A>C (p.Glu624Asp)
c.2445A>C (p.Glu815Asp)
n.15475A>C
c.15459A>C (p.Glu5153Asp)
c.15381A>C (p.Glu5127Asp)
c.12765A>C (p.Glu4255Asp)
c.15483A>C (p.Glu5161Asp)
c.15480A>C (p.Glu5160Asp)
c.15402A>C (p.Glu5134Asp)
c.15387A>C (p.Glu5129Asp)
c.15303A>C (p.Glu5101Asp)
c.*416A>C (n.*416A>C)
c.8601A>C (p.Glu2867Asp)
c.8580A>C (p.Glu2860Asp)
n.15478A>C
5g.90810722A>GCA445468295ADGRV1c.15462A>G (p.Glu5154=)
c.4416A>G (p.Glu1472=)
n.2729A>G
c.265+134513A>G (n.265+134513A>G)
c.1872A>G (p.Glu624=)
c.2445A>G (p.Glu815=)
n.15475A>G
c.15459A>G (p.Glu5153=)
c.15381A>G (p.Glu5127=)
c.12765A>G (p.Glu4255=)
c.15483A>G (p.Glu5161=)
c.15480A>G (p.Glu5160=)
c.15402A>G (p.Glu5134=)
c.15387A>G (p.Glu5129=)
c.15303A>G (p.Glu5101=)
c.*416A>G (n.*416A>G)
c.8601A>G (p.Glu2867=)
c.8580A>G (p.Glu2860=)
n.15478A>G
5g.90810722A>TCA360409585ADGRV1c.15462A>T (p.Glu5154Asp)
c.4416A>T (p.Glu1472Asp)
n.2729A>T
c.265+134513A>T (n.265+134513A>T)
c.1872A>T (p.Glu624Asp)
c.2445A>T (p.Glu815Asp)
n.15475A>T
c.15459A>T (p.Glu5153Asp)
c.15381A>T (p.Glu5127Asp)
c.12765A>T (p.Glu4255Asp)
c.15483A>T (p.Glu5161Asp)
c.15480A>T (p.Glu5160Asp)
c.15402A>T (p.Glu5134Asp)
c.15387A>T (p.Glu5129Asp)
c.15303A>T (p.Glu5101Asp)
c.*416A>T (n.*416A>T)
c.8601A>T (p.Glu2867Asp)
c.8580A>T (p.Glu2860Asp)
n.15478A>T
5g.90810723A=CA1562911506ADGRV1c.15463A= (p.Thr5155=)
c.4417A= (p.Thr1473=)
n.2730A=
c.265+134514A= (n.265+134514A=)
c.1873A= (p.Thr625=)
c.2446A= (p.Thr816=)
n.15476A=
c.15460A= (p.Thr5154=)
c.15382A= (p.Thr5128=)
c.12766A= (p.Thr4256=)
c.15484A= (p.Thr5162=)
c.15481A= (p.Thr5161=)
c.15403A= (p.Thr5135=)
c.15388A= (p.Thr5130=)
c.15304A= (p.Thr5102=)
c.*417A= (n.*417A=)
c.8602A= (p.Thr2868=)
c.8581A= (p.Thr2861=)
n.15479A=
5g.90810723A>CCA360409589ADGRV1c.15463A>C (p.Thr5155Pro)
c.4417A>C (p.Thr1473Pro)
n.2730A>C
c.265+134514A>C (n.265+134514A>C)
c.1873A>C (p.Thr625Pro)
c.2446A>C (p.Thr816Pro)
n.15476A>C
c.15460A>C (p.Thr5154Pro)
c.15382A>C (p.Thr5128Pro)
c.12766A>C (p.Thr4256Pro)
c.15484A>C (p.Thr5162Pro)
c.15481A>C (p.Thr5161Pro)
c.15403A>C (p.Thr5135Pro)
c.15388A>C (p.Thr5130Pro)
c.15304A>C (p.Thr5102Pro)
c.*417A>C (n.*417A>C)
c.8602A>C (p.Thr2868Pro)
c.8581A>C (p.Thr2861Pro)
n.15479A>C
 gnomAD v4 COSMIC
5g.90810723A>GCA360409599ADGRV1c.15463A>G (p.Thr5155Ala)
c.4417A>G (p.Thr1473Ala)
n.2730A>G
c.265+134514A>G (n.265+134514A>G)
c.1873A>G (p.Thr625Ala)
c.2446A>G (p.Thr816Ala)
n.15476A>G
c.15460A>G (p.Thr5154Ala)
c.15382A>G (p.Thr5128Ala)
c.12766A>G (p.Thr4256Ala)
c.15484A>G (p.Thr5162Ala)
c.15481A>G (p.Thr5161Ala)
c.15403A>G (p.Thr5135Ala)
c.15388A>G (p.Thr5130Ala)
c.15304A>G (p.Thr5102Ala)
c.*417A>G (n.*417A>G)
c.8602A>G (p.Thr2868Ala)
c.8581A>G (p.Thr2861Ala)
n.15479A>G
 dbSNP gnomAD v2 gnomAD v4
5g.90810723A>TCA360409591ADGRV1c.15463A>T (p.Thr5155Ser)
c.4417A>T (p.Thr1473Ser)
n.2730A>T
c.265+134514A>T (n.265+134514A>T)
c.1873A>T (p.Thr625Ser)
c.2446A>T (p.Thr816Ser)
n.15476A>T
c.15460A>T (p.Thr5154Ser)
c.15382A>T (p.Thr5128Ser)
c.12766A>T (p.Thr4256Ser)
c.15484A>T (p.Thr5162Ser)
c.15481A>T (p.Thr5161Ser)
c.15403A>T (p.Thr5135Ser)
c.15388A>T (p.Thr5130Ser)
c.15304A>T (p.Thr5102Ser)
c.*417A>T (n.*417A>T)
c.8602A>T (p.Thr2868Ser)
c.8581A>T (p.Thr2861Ser)
n.15479A>T
 gnomAD v4
5g.90810724C>ACA360409602ADGRV1c.15464C>A (p.Thr5155Asn)
c.4418C>A (p.Thr1473Asn)
n.2731C>A
c.265+134515C>A (n.265+134515C>A)
c.1874C>A (p.Thr625Asn)
c.2447C>A (p.Thr816Asn)
n.15477C>A
c.15461C>A (p.Thr5154Asn)
c.15383C>A (p.Thr5128Asn)
c.12767C>A (p.Thr4256Asn)
c.15485C>A (p.Thr5162Asn)
c.15482C>A (p.Thr5161Asn)
c.15404C>A (p.Thr5135Asn)
c.15389C>A (p.Thr5130Asn)
c.15305C>A (p.Thr5102Asn)
c.*418C>A (n.*418C>A)
c.8603C>A (p.Thr2868Asn)
c.8582C>A (p.Thr2861Asn)
n.15480C>A
5g.90810724C>GCA360409605ADGRV1c.15464C>G (p.Thr5155Ser)
c.4418C>G (p.Thr1473Ser)
n.2731C>G
c.265+134515C>G (n.265+134515C>G)
c.1874C>G (p.Thr625Ser)
c.2447C>G (p.Thr816Ser)
n.15477C>G
c.15461C>G (p.Thr5154Ser)
c.15383C>G (p.Thr5128Ser)
c.12767C>G (p.Thr4256Ser)
c.15485C>G (p.Thr5162Ser)
c.15482C>G (p.Thr5161Ser)
c.15404C>G (p.Thr5135Ser)
c.15389C>G (p.Thr5130Ser)
c.15305C>G (p.Thr5102Ser)
c.*418C>G (n.*418C>G)
c.8603C>G (p.Thr2868Ser)
c.8582C>G (p.Thr2861Ser)
n.15480C>G
5g.90810724C>TCA360409613ADGRV1c.15464C>T (p.Thr5155Ile)
c.4418C>T (p.Thr1473Ile)
n.2731C>T
c.265+134515C>T (n.265+134515C>T)
c.1874C>T (p.Thr625Ile)
c.2447C>T (p.Thr816Ile)
n.15477C>T
c.15461C>T (p.Thr5154Ile)
c.15383C>T (p.Thr5128Ile)
c.12767C>T (p.Thr4256Ile)
c.15485C>T (p.Thr5162Ile)
c.15482C>T (p.Thr5161Ile)
c.15404C>T (p.Thr5135Ile)
c.15389C>T (p.Thr5130Ile)
c.15305C>T (p.Thr5102Ile)
c.*418C>T (n.*418C>T)
c.8603C>T (p.Thr2868Ile)
c.8582C>T (p.Thr2861Ile)
n.15480C>T
5g.90810725T>ACA445468311ADGRV1c.15465T>A (p.Thr5155=)
c.4419T>A (p.Thr1473=)
n.2732T>A
c.265+134516T>A (n.265+134516T>A)
c.1875T>A (p.Thr625=)
c.2448T>A (p.Thr816=)
n.15478T>A
c.15462T>A (p.Thr5154=)
c.15384T>A (p.Thr5128=)
c.12768T>A (p.Thr4256=)
c.15486T>A (p.Thr5162=)
c.15483T>A (p.Thr5161=)
c.15405T>A (p.Thr5135=)
c.15390T>A (p.Thr5130=)
c.15306T>A (p.Thr5102=)
c.*419T>A (n.*419T>A)
c.8604T>A (p.Thr2868=)
c.8583T>A (p.Thr2861=)
n.15481T>A
5g.90810725T>CCA445468310ADGRV1c.15465T>C (p.Thr5155=)
c.4419T>C (p.Thr1473=)
n.2732T>C
c.265+134516T>C (n.265+134516T>C)
c.1875T>C (p.Thr625=)
c.2448T>C (p.Thr816=)
n.15478T>C
c.15462T>C (p.Thr5154=)
c.15384T>C (p.Thr5128=)
c.12768T>C (p.Thr4256=)
c.15486T>C (p.Thr5162=)
c.15483T>C (p.Thr5161=)
c.15405T>C (p.Thr5135=)
c.15390T>C (p.Thr5130=)
c.15306T>C (p.Thr5102=)
c.*419T>C (n.*419T>C)
c.8604T>C (p.Thr2868=)
c.8583T>C (p.Thr2861=)
n.15481T>C
 gnomAD v4
5g.90810725T>GCA445468308ADGRV1c.15465T>G (p.Thr5155=)
c.4419T>G (p.Thr1473=)
n.2732T>G
c.265+134516T>G (n.265+134516T>G)
c.1875T>G (p.Thr625=)
c.2448T>G (p.Thr816=)
n.15478T>G
c.15462T>G (p.Thr5154=)
c.15384T>G (p.Thr5128=)
c.12768T>G (p.Thr4256=)
c.15486T>G (p.Thr5162=)
c.15483T>G (p.Thr5161=)
c.15405T>G (p.Thr5135=)
c.15390T>G (p.Thr5130=)
c.15306T>G (p.Thr5102=)
c.*419T>G (n.*419T>G)
c.8604T>G (p.Thr2868=)
c.8583T>G (p.Thr2861=)
n.15481T>G
5g.90810726G>ACA360409616ADGRV1c.15466G>A (p.Glu5156Lys)
c.4420G>A (p.Glu1474Lys)
n.2733G>A
c.265+134517G>A (n.265+134517G>A)
c.1876G>A (p.Glu626Lys)
c.2449G>A (p.Glu817Lys)
n.15479G>A
c.15463G>A (p.Glu5155Lys)
c.15385G>A (p.Glu5129Lys)
c.12769G>A (p.Glu4257Lys)
c.15487G>A (p.Glu5163Lys)
c.15484G>A (p.Glu5162Lys)
c.15406G>A (p.Glu5136Lys)
c.15391G>A (p.Glu5131Lys)
c.15307G>A (p.Glu5103Lys)
c.*420G>A (n.*420G>A)
c.8605G>A (p.Glu2869Lys)
c.8584G>A (p.Glu2862Lys)
n.15482G>A
5g.90810726G>CCA360409617ADGRV1c.15466G>C (p.Glu5156Gln)
c.4420G>C (p.Glu1474Gln)
n.2733G>C
c.265+134517G>C (n.265+134517G>C)
c.1876G>C (p.Glu626Gln)
c.2449G>C (p.Glu817Gln)
n.15479G>C
c.15463G>C (p.Glu5155Gln)
c.15385G>C (p.Glu5129Gln)
c.12769G>C (p.Glu4257Gln)
c.15487G>C (p.Glu5163Gln)
c.15484G>C (p.Glu5162Gln)
c.15406G>C (p.Glu5136Gln)
c.15391G>C (p.Glu5131Gln)
c.15307G>C (p.Glu5103Gln)
c.*420G>C (n.*420G>C)
c.8605G>C (p.Glu2869Gln)
c.8584G>C (p.Glu2862Gln)
n.15482G>C
5g.90810726G>TCA360409618ADGRV1c.15466G>T (p.Glu5156Ter)
c.4420G>T (p.Glu1474Ter)
n.2733G>T
c.265+134517G>T (n.265+134517G>T)
c.1876G>T (p.Glu626Ter)
c.2449G>T (p.Glu817Ter)
n.15479G>T
c.15463G>T (p.Glu5155Ter)
c.15385G>T (p.Glu5129Ter)
c.12769G>T (p.Glu4257Ter)
c.15487G>T (p.Glu5163Ter)
c.15484G>T (p.Glu5162Ter)
c.15406G>T (p.Glu5136Ter)
c.15391G>T (p.Glu5131Ter)
c.15307G>T (p.Glu5103Ter)
c.*420G>T (n.*420G>T)
c.8605G>T (p.Glu2869Ter)
c.8584G>T (p.Glu2862Ter)
n.15482G>T
5g.90810727A>CCA360409620ADGRV1c.15467A>C (p.Glu5156Ala)
c.4421A>C (p.Glu1474Ala)
n.2734A>C
c.265+134518A>C (n.265+134518A>C)
c.1877A>C (p.Glu626Ala)
c.2450A>C (p.Glu817Ala)
n.15480A>C
c.15464A>C (p.Glu5155Ala)
c.15386A>C (p.Glu5129Ala)
c.12770A>C (p.Glu4257Ala)
c.15488A>C (p.Glu5163Ala)
c.15485A>C (p.Glu5162Ala)
c.15407A>C (p.Glu5136Ala)
c.15392A>C (p.Glu5131Ala)
c.15308A>C (p.Glu5103Ala)
c.*421A>C (n.*421A>C)
c.8606A>C (p.Glu2869Ala)
c.8585A>C (p.Glu2862Ala)
n.15483A>C
5g.90810727A>GCA360409622ADGRV1c.15467A>G (p.Glu5156Gly)
c.4421A>G (p.Glu1474Gly)
n.2734A>G
c.265+134518A>G (n.265+134518A>G)
c.1877A>G (p.Glu626Gly)
c.2450A>G (p.Glu817Gly)
n.15480A>G
c.15464A>G (p.Glu5155Gly)
c.15386A>G (p.Glu5129Gly)
c.12770A>G (p.Glu4257Gly)
c.15488A>G (p.Glu5163Gly)
c.15485A>G (p.Glu5162Gly)
c.15407A>G (p.Glu5136Gly)
c.15392A>G (p.Glu5131Gly)
c.15308A>G (p.Glu5103Gly)
c.*421A>G (n.*421A>G)
c.8606A>G (p.Glu2869Gly)
c.8585A>G (p.Glu2862Gly)
n.15483A>G
5g.90810727A>TCA360409628ADGRV1c.15467A>T (p.Glu5156Val)
c.4421A>T (p.Glu1474Val)
n.2734A>T
c.265+134518A>T (n.265+134518A>T)
c.1877A>T (p.Glu626Val)
c.2450A>T (p.Glu817Val)
n.15480A>T
c.15464A>T (p.Glu5155Val)
c.15386A>T (p.Glu5129Val)
c.12770A>T (p.Glu4257Val)
c.15488A>T (p.Glu5163Val)
c.15485A>T (p.Glu5162Val)
c.15407A>T (p.Glu5136Val)
c.15392A>T (p.Glu5131Val)
c.15308A>T (p.Glu5103Val)
c.*421A>T (n.*421A>T)
c.8606A>T (p.Glu2869Val)
c.8585A>T (p.Glu2862Val)
n.15483A>T
5g.90810728A>CCA360409632ADGRV1c.15468A>C (p.Glu5156Asp)
c.4422A>C (p.Glu1474Asp)
n.2735A>C
c.265+134519A>C (n.265+134519A>C)
c.1878A>C (p.Glu626Asp)
c.2451A>C (p.Glu817Asp)
n.15481A>C
c.15465A>C (p.Glu5155Asp)
c.15387A>C (p.Glu5129Asp)
c.12771A>C (p.Glu4257Asp)
c.15489A>C (p.Glu5163Asp)
c.15486A>C (p.Glu5162Asp)
c.15408A>C (p.Glu5136Asp)
c.15393A>C (p.Glu5131Asp)
c.15309A>C (p.Glu5103Asp)
c.*422A>C (n.*422A>C)
c.8607A>C (p.Glu2869Asp)
c.8586A>C (p.Glu2862Asp)
n.15484A>C
5g.90810728A>GCA445468323ADGRV1c.15468A>G (p.Glu5156=)
c.4422A>G (p.Glu1474=)
n.2735A>G
c.265+134519A>G (n.265+134519A>G)
c.1878A>G (p.Glu626=)
c.2451A>G (p.Glu817=)
n.15481A>G
c.15465A>G (p.Glu5155=)
c.15387A>G (p.Glu5129=)
c.12771A>G (p.Glu4257=)
c.15489A>G (p.Glu5163=)
c.15486A>G (p.Glu5162=)
c.15408A>G (p.Glu5136=)
c.15393A>G (p.Glu5131=)
c.15309A>G (p.Glu5103=)
c.*422A>G (n.*422A>G)
c.8607A>G (p.Glu2869=)
c.8586A>G (p.Glu2862=)
n.15484A>G
5g.90810728A>TCA360409635ADGRV1c.15468A>T (p.Glu5156Asp)
c.4422A>T (p.Glu1474Asp)
n.2735A>T
c.265+134519A>T (n.265+134519A>T)
c.1878A>T (p.Glu626Asp)
c.2451A>T (p.Glu817Asp)
n.15481A>T
c.15465A>T (p.Glu5155Asp)
c.15387A>T (p.Glu5129Asp)
c.12771A>T (p.Glu4257Asp)
c.15489A>T (p.Glu5163Asp)
c.15486A>T (p.Glu5162Asp)
c.15408A>T (p.Glu5136Asp)
c.15393A>T (p.Glu5131Asp)
c.15309A>T (p.Glu5103Asp)
c.*422A>T (n.*422A>T)
c.8607A>T (p.Glu2869Asp)
c.8586A>T (p.Glu2862Asp)
n.15484A>T
5g.90810729T>ACA360409646ADGRV1c.15469T>A (p.Ser5157Thr)
c.4423T>A (p.Ser1475Thr)
n.2736T>A
c.265+134520T>A (n.265+134520T>A)
c.1879T>A (p.Ser627Thr)
c.2452T>A (p.Ser818Thr)
n.15482T>A
c.15466T>A (p.Ser5156Thr)
c.15388T>A (p.Ser5130Thr)
c.12772T>A (p.Ser4258Thr)
c.15490T>A (p.Ser5164Thr)
c.15487T>A (p.Ser5163Thr)
c.15409T>A (p.Ser5137Thr)
c.15394T>A (p.Ser5132Thr)
c.15310T>A (p.Ser5104Thr)
c.*423T>A (n.*423T>A)
c.8608T>A (p.Ser2870Thr)
c.8587T>A (p.Ser2863Thr)
n.15485T>A
5g.90810729T>CCA360409639ADGRV1c.15469T>C (p.Ser5157Pro)
c.4423T>C (p.Ser1475Pro)
n.2736T>C
c.265+134520T>C (n.265+134520T>C)
c.1879T>C (p.Ser627Pro)
c.2452T>C (p.Ser818Pro)
n.15482T>C
c.15466T>C (p.Ser5156Pro)
c.15388T>C (p.Ser5130Pro)
c.12772T>C (p.Ser4258Pro)
c.15490T>C (p.Ser5164Pro)
c.15487T>C (p.Ser5163Pro)
c.15409T>C (p.Ser5137Pro)
c.15394T>C (p.Ser5132Pro)
c.15310T>C (p.Ser5104Pro)
c.*423T>C (n.*423T>C)
c.8608T>C (p.Ser2870Pro)
c.8587T>C (p.Ser2863Pro)
n.15485T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90810729T>GCA360409644ADGRV1c.15469T>G (p.Ser5157Ala)
c.4423T>G (p.Ser1475Ala)
n.2736T>G
c.265+134520T>G (n.265+134520T>G)
c.1879T>G (p.Ser627Ala)
c.2452T>G (p.Ser818Ala)
n.15482T>G
c.15466T>G (p.Ser5156Ala)
c.15388T>G (p.Ser5130Ala)
c.12772T>G (p.Ser4258Ala)
c.15490T>G (p.Ser5164Ala)
c.15487T>G (p.Ser5163Ala)
c.15409T>G (p.Ser5137Ala)
c.15394T>G (p.Ser5132Ala)
c.15310T>G (p.Ser5104Ala)
c.*423T>G (n.*423T>G)
c.8608T>G (p.Ser2870Ala)
c.8587T>G (p.Ser2863Ala)
n.15485T>G
5g.90810729T=CA1562911507ADGRV1c.15469T= (p.Ser5157=)
c.4423T= (p.Ser1475=)
n.2736T=
c.265+134520T= (n.265+134520T=)
c.1879T= (p.Ser627=)
c.2452T= (p.Ser818=)
n.15482T=
c.15466T= (p.Ser5156=)
c.15388T= (p.Ser5130=)
c.12772T= (p.Ser4258=)
c.15490T= (p.Ser5164=)
c.15487T= (p.Ser5163=)
c.15409T= (p.Ser5137=)
c.15394T= (p.Ser5132=)
c.15310T= (p.Ser5104=)
c.*423T= (n.*423T=)
c.8608T= (p.Ser2870=)
c.8587T= (p.Ser2863=)
n.15485T=
5g.90810730C>ACA360409650ADGRV1c.15470C>A (p.Ser5157Tyr)
c.4424C>A (p.Ser1475Tyr)
n.2737C>A
c.265+134521C>A (n.265+134521C>A)
c.1880C>A (p.Ser627Tyr)
c.2453C>A (p.Ser818Tyr)
n.15483C>A
c.15467C>A (p.Ser5156Tyr)
c.15389C>A (p.Ser5130Tyr)
c.12773C>A (p.Ser4258Tyr)
c.15491C>A (p.Ser5164Tyr)
c.15488C>A (p.Ser5163Tyr)
c.15410C>A (p.Ser5137Tyr)
c.15395C>A (p.Ser5132Tyr)
c.15311C>A (p.Ser5104Tyr)
c.*424C>A (n.*424C>A)
c.8609C>A (p.Ser2870Tyr)
c.8588C>A (p.Ser2863Tyr)
n.15486C>A
5g.90810730C=CA1562911508ADGRV1c.15470C= (p.Ser5157=)
c.4424C= (p.Ser1475=)
n.2737C=
c.265+134521C= (n.265+134521C=)
c.1880C= (p.Ser627=)
c.2453C= (p.Ser818=)
n.15483C=
c.15467C= (p.Ser5156=)
c.15389C= (p.Ser5130=)
c.12773C= (p.Ser4258=)
c.15491C= (p.Ser5164=)
c.15488C= (p.Ser5163=)
c.15410C= (p.Ser5137=)
c.15395C= (p.Ser5132=)
c.15311C= (p.Ser5104=)
c.*424C= (n.*424C=)
c.8609C= (p.Ser2870=)
c.8588C= (p.Ser2863=)
n.15486C=
5g.90810730C>GCA360409651ADGRV1c.15470C>G (p.Ser5157Cys)
c.4424C>G (p.Ser1475Cys)
n.2737C>G
c.265+134521C>G (n.265+134521C>G)
c.1880C>G (p.Ser627Cys)
c.2453C>G (p.Ser818Cys)
n.15483C>G
c.15467C>G (p.Ser5156Cys)
c.15389C>G (p.Ser5130Cys)
c.12773C>G (p.Ser4258Cys)
c.15491C>G (p.Ser5164Cys)
c.15488C>G (p.Ser5163Cys)
c.15410C>G (p.Ser5137Cys)
c.15395C>G (p.Ser5132Cys)
c.15311C>G (p.Ser5104Cys)
c.*424C>G (n.*424C>G)
c.8609C>G (p.Ser2870Cys)
c.8588C>G (p.Ser2863Cys)
n.15486C>G
5g.90810730C>TCA122821757ADGRV1c.15470C>T (p.Ser5157Phe)
c.4424C>T (p.Ser1475Phe)
n.2737C>T
c.265+134521C>T (n.265+134521C>T)
c.1880C>T (p.Ser627Phe)
c.2453C>T (p.Ser818Phe)
n.15483C>T
c.15467C>T (p.Ser5156Phe)
c.15389C>T (p.Ser5130Phe)
c.12773C>T (p.Ser4258Phe)
c.15491C>T (p.Ser5164Phe)
c.15488C>T (p.Ser5163Phe)
c.15410C>T (p.Ser5137Phe)
c.15395C>T (p.Ser5132Phe)
c.15311C>T (p.Ser5104Phe)
c.*424C>T (n.*424C>T)
c.8609C>T (p.Ser2870Phe)
c.8588C>T (p.Ser2863Phe)
n.15486C>T
 dbSNP gnomAD v4
5g.90810731C>ACA445468325ADGRV1c.15471C>A (p.Ser5157=)
c.4425C>A (p.Ser1475=)
n.2738C>A
c.265+134522C>A (n.265+134522C>A)
c.1881C>A (p.Ser627=)
c.2454C>A (p.Ser818=)
n.15484C>A
c.15468C>A (p.Ser5156=)
c.15390C>A (p.Ser5130=)
c.12774C>A (p.Ser4258=)
c.15492C>A (p.Ser5164=)
c.15489C>A (p.Ser5163=)
c.15411C>A (p.Ser5137=)
c.15396C>A (p.Ser5132=)
c.15312C>A (p.Ser5104=)
c.*425C>A (n.*425C>A)
c.8610C>A (p.Ser2870=)
c.8589C>A (p.Ser2863=)
n.15487C>A
5g.90810731C=CA1562911509ADGRV1c.15471C= (p.Ser5157=)
c.4425C= (p.Ser1475=)
n.2738C=
c.265+134522C= (n.265+134522C=)
c.1881C= (p.Ser627=)
c.2454C= (p.Ser818=)
n.15484C=
c.15468C= (p.Ser5156=)
c.15390C= (p.Ser5130=)
c.12774C= (p.Ser4258=)
c.15492C= (p.Ser5164=)
c.15489C= (p.Ser5163=)
c.15411C= (p.Ser5137=)
c.15396C= (p.Ser5132=)
c.15312C= (p.Ser5104=)
c.*425C= (n.*425C=)
c.8610C= (p.Ser2870=)
c.8589C= (p.Ser2863=)
n.15487C=
5g.90810731C>GCA445468327ADGRV1c.15471C>G (p.Ser5157=)
c.4425C>G (p.Ser1475=)
n.2738C>G
c.265+134522C>G (n.265+134522C>G)
c.1881C>G (p.Ser627=)
c.2454C>G (p.Ser818=)
n.15484C>G
c.15468C>G (p.Ser5156=)
c.15390C>G (p.Ser5130=)
c.12774C>G (p.Ser4258=)
c.15492C>G (p.Ser5164=)
c.15489C>G (p.Ser5163=)
c.15411C>G (p.Ser5137=)
c.15396C>G (p.Ser5132=)
c.15312C>G (p.Ser5104=)
c.*425C>G (n.*425C>G)
c.8610C>G (p.Ser2870=)
c.8589C>G (p.Ser2863=)
n.15487C>G
5g.90810731C>TCA138045ADGRV1c.15471C>T (p.Ser5157=)
c.4425C>T (p.Ser1475=)
n.2738C>T
c.265+134522C>T (n.265+134522C>T)
c.1881C>T (p.Ser627=)
c.2454C>T (p.Ser818=)
n.15484C>T
c.15468C>T (p.Ser5156=)
c.15390C>T (p.Ser5130=)
c.12774C>T (p.Ser4258=)
c.15492C>T (p.Ser5164=)
c.15489C>T (p.Ser5163=)
c.15411C>T (p.Ser5137=)
c.15396C>T (p.Ser5132=)
c.15312C>T (p.Ser5104=)
c.*425C>T (n.*425C>T)
c.8610C>T (p.Ser2870=)
c.8589C>T (p.Ser2863=)
n.15487C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810732A>CCA360409656ADGRV1c.15472A>C (p.Thr5158Pro)
c.4426A>C (p.Thr1476Pro)
n.2739A>C
c.265+134523A>C (n.265+134523A>C)
c.1882A>C (p.Thr628Pro)
c.2455A>C (p.Thr819Pro)
n.15485A>C
c.15469A>C (p.Thr5157Pro)
c.15391A>C (p.Thr5131Pro)
c.12775A>C (p.Thr4259Pro)
c.15493A>C (p.Thr5165Pro)
c.15490A>C (p.Thr5164Pro)
c.15412A>C (p.Thr5138Pro)
c.15397A>C (p.Thr5133Pro)
c.15313A>C (p.Thr5105Pro)
c.*426A>C (n.*426A>C)
c.8611A>C (p.Thr2871Pro)
c.8590A>C (p.Thr2864Pro)
n.15488A>C
5g.90810732A>GCA360409659ADGRV1c.15472A>G (p.Thr5158Ala)
c.4426A>G (p.Thr1476Ala)
n.2739A>G
c.265+134523A>G (n.265+134523A>G)
c.1882A>G (p.Thr628Ala)
c.2455A>G (p.Thr819Ala)
n.15485A>G
c.15469A>G (p.Thr5157Ala)
c.15391A>G (p.Thr5131Ala)
c.12775A>G (p.Thr4259Ala)
c.15493A>G (p.Thr5165Ala)
c.15490A>G (p.Thr5164Ala)
c.15412A>G (p.Thr5138Ala)
c.15397A>G (p.Thr5133Ala)
c.15313A>G (p.Thr5105Ala)
c.*426A>G (n.*426A>G)
c.8611A>G (p.Thr2871Ala)
c.8590A>G (p.Thr2864Ala)
n.15488A>G
 gnomAD v4
5g.90810732A>TCA360409662ADGRV1c.15472A>T (p.Thr5158Ser)
c.4426A>T (p.Thr1476Ser)
n.2739A>T
c.265+134523A>T (n.265+134523A>T)
c.1882A>T (p.Thr628Ser)
c.2455A>T (p.Thr819Ser)
n.15485A>T
c.15469A>T (p.Thr5157Ser)
c.15391A>T (p.Thr5131Ser)
c.12775A>T (p.Thr4259Ser)
c.15493A>T (p.Thr5165Ser)
c.15490A>T (p.Thr5164Ser)
c.15412A>T (p.Thr5138Ser)
c.15397A>T (p.Thr5133Ser)
c.15313A>T (p.Thr5105Ser)
c.*426A>T (n.*426A>T)
c.8611A>T (p.Thr2871Ser)
c.8590A>T (p.Thr2864Ser)
n.15488A>T
5g.90810733C>ACA360409663ADGRV1c.15473C>A (p.Thr5158Asn)
c.4427C>A (p.Thr1476Asn)
n.2740C>A
c.265+134524C>A (n.265+134524C>A)
c.1883C>A (p.Thr628Asn)
c.2456C>A (p.Thr819Asn)
n.15486C>A
c.15470C>A (p.Thr5157Asn)
c.15392C>A (p.Thr5131Asn)
c.12776C>A (p.Thr4259Asn)
c.15494C>A (p.Thr5165Asn)
c.15491C>A (p.Thr5164Asn)
c.15413C>A (p.Thr5138Asn)
c.15398C>A (p.Thr5133Asn)
c.15314C>A (p.Thr5105Asn)
c.*427C>A (n.*427C>A)
c.8612C>A (p.Thr2871Asn)
c.8591C>A (p.Thr2864Asn)
n.15489C>A
 dbSNP gnomAD v4
5g.90810733C=CA1562911510ADGRV1c.15473C= (p.Thr5158=)
c.4427C= (p.Thr1476=)
n.2740C=
c.265+134524C= (n.265+134524C=)
c.1883C= (p.Thr628=)
c.2456C= (p.Thr819=)
n.15486C=
c.15470C= (p.Thr5157=)
c.15392C= (p.Thr5131=)
c.12776C= (p.Thr4259=)
c.15494C= (p.Thr5165=)
c.15491C= (p.Thr5164=)
c.15413C= (p.Thr5138=)
c.15398C= (p.Thr5133=)
c.15314C= (p.Thr5105=)
c.*427C= (n.*427C=)
c.8612C= (p.Thr2871=)
c.8591C= (p.Thr2864=)
n.15489C=
5g.90810733C>GCA360409664ADGRV1c.15473C>G (p.Thr5158Ser)
c.4427C>G (p.Thr1476Ser)
n.2740C>G
c.265+134524C>G (n.265+134524C>G)
c.1883C>G (p.Thr628Ser)
c.2456C>G (p.Thr819Ser)
n.15486C>G
c.15470C>G (p.Thr5157Ser)
c.15392C>G (p.Thr5131Ser)
c.12776C>G (p.Thr4259Ser)
c.15494C>G (p.Thr5165Ser)
c.15491C>G (p.Thr5164Ser)
c.15413C>G (p.Thr5138Ser)
c.15398C>G (p.Thr5133Ser)
c.15314C>G (p.Thr5105Ser)
c.*427C>G (n.*427C>G)
c.8612C>G (p.Thr2871Ser)
c.8591C>G (p.Thr2864Ser)
n.15489C>G
 dbSNP
5g.90810733C>TCA3341928ADGRV1c.15473C>T (p.Thr5158Ile)
c.4427C>T (p.Thr1476Ile)
n.2740C>T
c.265+134524C>T (n.265+134524C>T)
c.1883C>T (p.Thr628Ile)
c.2456C>T (p.Thr819Ile)
n.15486C>T
c.15470C>T (p.Thr5157Ile)
c.15392C>T (p.Thr5131Ile)
c.12776C>T (p.Thr4259Ile)
c.15494C>T (p.Thr5165Ile)
c.15491C>T (p.Thr5164Ile)
c.15413C>T (p.Thr5138Ile)
c.15398C>T (p.Thr5133Ile)
c.15314C>T (p.Thr5105Ile)
c.*427C>T (n.*427C>T)
c.8612C>T (p.Thr2871Ile)
c.8591C>T (p.Thr2864Ile)
n.15489C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810734C>ACA445468349ADGRV1c.15474C>A (p.Thr5158=)
c.4428C>A (p.Thr1476=)
n.2741C>A
c.265+134525C>A (n.265+134525C>A)
c.1884C>A (p.Thr628=)
c.2457C>A (p.Thr819=)
n.15487C>A
c.15471C>A (p.Thr5157=)
c.15393C>A (p.Thr5131=)
c.12777C>A (p.Thr4259=)
c.15495C>A (p.Thr5165=)
c.15492C>A (p.Thr5164=)
c.15414C>A (p.Thr5138=)
c.15399C>A (p.Thr5133=)
c.15315C>A (p.Thr5105=)
c.*428C>A (n.*428C>A)
c.8613C>A (p.Thr2871=)
c.8592C>A (p.Thr2864=)
n.15490C>A
5g.90810734C>GCA445468350ADGRV1c.15474C>G (p.Thr5158=)
c.4428C>G (p.Thr1476=)
n.2741C>G
c.265+134525C>G (n.265+134525C>G)
c.1884C>G (p.Thr628=)
c.2457C>G (p.Thr819=)
n.15487C>G
c.15471C>G (p.Thr5157=)
c.15393C>G (p.Thr5131=)
c.12777C>G (p.Thr4259=)
c.15495C>G (p.Thr5165=)
c.15492C>G (p.Thr5164=)
c.15414C>G (p.Thr5138=)
c.15399C>G (p.Thr5133=)
c.15315C>G (p.Thr5105=)
c.*428C>G (n.*428C>G)
c.8613C>G (p.Thr2871=)
c.8592C>G (p.Thr2864=)
n.15490C>G
5g.90810734C>TCA445468351ADGRV1c.15474C>T (p.Thr5158=)
c.4428C>T (p.Thr1476=)
n.2741C>T
c.265+134525C>T (n.265+134525C>T)
c.1884C>T (p.Thr628=)
c.2457C>T (p.Thr819=)
n.15487C>T
c.15471C>T (p.Thr5157=)
c.15393C>T (p.Thr5131=)
c.12777C>T (p.Thr4259=)
c.15495C>T (p.Thr5165=)
c.15492C>T (p.Thr5164=)
c.15414C>T (p.Thr5138=)
c.15399C>T (p.Thr5133=)
c.15315C>T (p.Thr5105=)
c.*428C>T (n.*428C>T)
c.8613C>T (p.Thr2871=)
c.8592C>T (p.Thr2864=)
n.15490C>T
 gnomAD v4
5g.90810736_90810737delCA2510070102ADGRV1c.15476_15477del (p.Thr5159IlefsTer22)
c.4430_4431del (p.Thr1477IlefsTer22)
n.2743_2744del
c.265+134527_265+134528del (n.265+134527_265+134528del)
c.1886_1887del (p.Thr629IlefsTer22)
c.2459_2460del (p.Thr820IlefsTer22)
n.15489_15490del
c.15473_15474del (p.Thr5158IlefsTer22)
c.15395_15396del (p.Thr5132IlefsTer22)
c.12779_12780del (p.Thr4260IlefsTer22)
c.15497_15498del (p.Thr5166IlefsTer22)
c.15494_15495del (p.Thr5165IlefsTer22)
c.15416_15417del (p.Thr5139IlefsTer22)
c.15401_15402del (p.Thr5134IlefsTer22)
c.15317_15318del (p.Thr5106IlefsTer22)
c.*430_*431del (n.*430_*431del)
c.8615_8616del (p.Thr2872IlefsTer22)
c.8594_8595del (p.Thr2865IlefsTer22)
n.15492_15493del
5g.90810735A>CCA360409666ADGRV1c.15475A>C (p.Thr5159Pro)
c.4429A>C (p.Thr1477Pro)
n.2742A>C
c.265+134526A>C (n.265+134526A>C)
c.1885A>C (p.Thr629Pro)
c.2458A>C (p.Thr820Pro)
n.15488A>C
c.15472A>C (p.Thr5158Pro)
c.15394A>C (p.Thr5132Pro)
c.12778A>C (p.Thr4260Pro)
c.15496A>C (p.Thr5166Pro)
c.15493A>C (p.Thr5165Pro)
c.15415A>C (p.Thr5139Pro)
c.15400A>C (p.Thr5134Pro)
c.15316A>C (p.Thr5106Pro)
c.*429A>C (n.*429A>C)
c.8614A>C (p.Thr2872Pro)
c.8593A>C (p.Thr2865Pro)
n.15491A>C
5g.90810735A>GCA360409678ADGRV1c.15475A>G (p.Thr5159Ala)
c.4429A>G (p.Thr1477Ala)
n.2742A>G
c.265+134526A>G (n.265+134526A>G)
c.1885A>G (p.Thr629Ala)
c.2458A>G (p.Thr820Ala)
n.15488A>G
c.15472A>G (p.Thr5158Ala)
c.15394A>G (p.Thr5132Ala)
c.12778A>G (p.Thr4260Ala)
c.15496A>G (p.Thr5166Ala)
c.15493A>G (p.Thr5165Ala)
c.15415A>G (p.Thr5139Ala)
c.15400A>G (p.Thr5134Ala)
c.15316A>G (p.Thr5106Ala)
c.*429A>G (n.*429A>G)
c.8614A>G (p.Thr2872Ala)
c.8593A>G (p.Thr2865Ala)
n.15491A>G
 gnomAD v4
5g.90810735A>TCA360409665ADGRV1c.15475A>T (p.Thr5159Ser)
c.4429A>T (p.Thr1477Ser)
n.2742A>T
c.265+134526A>T (n.265+134526A>T)
c.1885A>T (p.Thr629Ser)
c.2458A>T (p.Thr820Ser)
n.15488A>T
c.15472A>T (p.Thr5158Ser)
c.15394A>T (p.Thr5132Ser)
c.12778A>T (p.Thr4260Ser)
c.15496A>T (p.Thr5166Ser)
c.15493A>T (p.Thr5165Ser)
c.15415A>T (p.Thr5139Ser)
c.15400A>T (p.Thr5134Ser)
c.15316A>T (p.Thr5106Ser)
c.*429A>T (n.*429A>T)
c.8614A>T (p.Thr2872Ser)
c.8593A>T (p.Thr2865Ser)
n.15491A>T
5g.90810736C>ACA360409684ADGRV1c.15476C>A (p.Thr5159Lys)
c.4430C>A (p.Thr1477Lys)
n.2743C>A
c.265+134527C>A (n.265+134527C>A)
c.1886C>A (p.Thr629Lys)
c.2459C>A (p.Thr820Lys)
n.15489C>A
c.15473C>A (p.Thr5158Lys)
c.15395C>A (p.Thr5132Lys)
c.12779C>A (p.Thr4260Lys)
c.15497C>A (p.Thr5166Lys)
c.15494C>A (p.Thr5165Lys)
c.15416C>A (p.Thr5139Lys)
c.15401C>A (p.Thr5134Lys)
c.15317C>A (p.Thr5106Lys)
c.*430C>A (n.*430C>A)
c.8615C>A (p.Thr2872Lys)
c.8594C>A (p.Thr2865Lys)
n.15492C>A
5g.90810736C=CA1562911511ADGRV1c.15476C= (p.Thr5159=)
c.4430C= (p.Thr1477=)
n.2743C=
c.265+134527C= (n.265+134527C=)
c.1886C= (p.Thr629=)
c.2459C= (p.Thr820=)
n.15489C=
c.15473C= (p.Thr5158=)
c.15395C= (p.Thr5132=)
c.12779C= (p.Thr4260=)
c.15497C= (p.Thr5166=)
c.15494C= (p.Thr5165=)
c.15416C= (p.Thr5139=)
c.15401C= (p.Thr5134=)
c.15317C= (p.Thr5106=)
c.*430C= (n.*430C=)
c.8615C= (p.Thr2872=)
c.8594C= (p.Thr2865=)
n.15492C=
5g.90810736C>GCA360409686ADGRV1c.15476C>G (p.Thr5159Arg)
c.4430C>G (p.Thr1477Arg)
n.2743C>G
c.265+134527C>G (n.265+134527C>G)
c.1886C>G (p.Thr629Arg)
c.2459C>G (p.Thr820Arg)
n.15489C>G
c.15473C>G (p.Thr5158Arg)
c.15395C>G (p.Thr5132Arg)
c.12779C>G (p.Thr4260Arg)
c.15497C>G (p.Thr5166Arg)
c.15494C>G (p.Thr5165Arg)
c.15416C>G (p.Thr5139Arg)
c.15401C>G (p.Thr5134Arg)
c.15317C>G (p.Thr5106Arg)
c.*430C>G (n.*430C>G)
c.8615C>G (p.Thr2872Arg)
c.8594C>G (p.Thr2865Arg)
n.15492C>G
5g.90810736C>TCA360409688ADGRV1c.15476C>T (p.Thr5159Ile)
c.4430C>T (p.Thr1477Ile)
n.2743C>T
c.265+134527C>T (n.265+134527C>T)
c.1886C>T (p.Thr629Ile)
c.2459C>T (p.Thr820Ile)
n.15489C>T
c.15473C>T (p.Thr5158Ile)
c.15395C>T (p.Thr5132Ile)
c.12779C>T (p.Thr4260Ile)
c.15497C>T (p.Thr5166Ile)
c.15494C>T (p.Thr5165Ile)
c.15416C>T (p.Thr5139Ile)
c.15401C>T (p.Thr5134Ile)
c.15317C>T (p.Thr5106Ile)
c.*430C>T (n.*430C>T)
c.8615C>T (p.Thr2872Ile)
c.8594C>T (p.Thr2865Ile)
n.15492C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90810737A=CA1562911512ADGRV1c.15477A= (p.Thr5159=)
c.4431A= (p.Thr1477=)
n.2744A=
c.265+134528A= (n.265+134528A=)
c.1887A= (p.Thr629=)
c.2460A= (p.Thr820=)
n.15490A=
c.15474A= (p.Thr5158=)
c.15396A= (p.Thr5132=)
c.12780A= (p.Thr4260=)
c.15498A= (p.Thr5166=)
c.15495A= (p.Thr5165=)
c.15417A= (p.Thr5139=)
c.15402A= (p.Thr5134=)
c.15318A= (p.Thr5106=)
c.*431A= (n.*431A=)
c.8616A= (p.Thr2872=)
c.8595A= (p.Thr2865=)
n.15493A=
5g.90810737A>CCA445468357ADGRV1c.15477A>C (p.Thr5159=)
c.4431A>C (p.Thr1477=)
n.2744A>C
c.265+134528A>C (n.265+134528A>C)
c.1887A>C (p.Thr629=)
c.2460A>C (p.Thr820=)
n.15490A>C
c.15474A>C (p.Thr5158=)
c.15396A>C (p.Thr5132=)
c.12780A>C (p.Thr4260=)
c.15498A>C (p.Thr5166=)
c.15495A>C (p.Thr5165=)
c.15417A>C (p.Thr5139=)
c.15402A>C (p.Thr5134=)
c.15318A>C (p.Thr5106=)
c.*431A>C (n.*431A>C)
c.8616A>C (p.Thr2872=)
c.8595A>C (p.Thr2865=)
n.15493A>C
5g.90810737A>GCA445468358ADGRV1c.15477A>G (p.Thr5159=)
c.4431A>G (p.Thr1477=)
n.2744A>G
c.265+134528A>G (n.265+134528A>G)
c.1887A>G (p.Thr629=)
c.2460A>G (p.Thr820=)
n.15490A>G
c.15474A>G (p.Thr5158=)
c.15396A>G (p.Thr5132=)
c.12780A>G (p.Thr4260=)
c.15498A>G (p.Thr5166=)
c.15495A>G (p.Thr5165=)
c.15417A>G (p.Thr5139=)
c.15402A>G (p.Thr5134=)
c.15318A>G (p.Thr5106=)
c.*431A>G (n.*431A>G)
c.8616A>G (p.Thr2872=)
c.8595A>G (p.Thr2865=)
n.15493A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90810737A>TCA445468359ADGRV1c.15477A>T (p.Thr5159=)
c.4431A>T (p.Thr1477=)
n.2744A>T
c.265+134528A>T (n.265+134528A>T)
c.1887A>T (p.Thr629=)
c.2460A>T (p.Thr820=)
n.15490A>T
c.15474A>T (p.Thr5158=)
c.15396A>T (p.Thr5132=)
c.12780A>T (p.Thr4260=)
c.15498A>T (p.Thr5166=)
c.15495A>T (p.Thr5165=)
c.15417A>T (p.Thr5139=)
c.15402A>T (p.Thr5134=)
c.15318A>T (p.Thr5106=)
c.*431A>T (n.*431A>T)
c.8616A>T (p.Thr2872=)
c.8595A>T (p.Thr2865=)
n.15493A>T
5g.90810738T>ACA360409690ADGRV1c.15478T>A (p.Tyr5160Asn)
c.4432T>A (p.Tyr1478Asn)
n.2745T>A
c.265+134529T>A (n.265+134529T>A)
c.1888T>A (p.Tyr630Asn)
c.2461T>A (p.Tyr821Asn)
n.15491T>A
c.15475T>A (p.Tyr5159Asn)
c.15397T>A (p.Tyr5133Asn)
c.12781T>A (p.Tyr4261Asn)
c.15499T>A (p.Tyr5167Asn)
c.15496T>A (p.Tyr5166Asn)
c.15418T>A (p.Tyr5140Asn)
c.15403T>A (p.Tyr5135Asn)
c.15319T>A (p.Tyr5107Asn)
c.*432T>A (n.*432T>A)
c.8617T>A (p.Tyr2873Asn)
c.8596T>A (p.Tyr2866Asn)
n.15494T>A
5g.90810738T>CCA360409695ADGRV1c.15478T>C (p.Tyr5160His)
c.4432T>C (p.Tyr1478His)
n.2745T>C
c.265+134529T>C (n.265+134529T>C)
c.1888T>C (p.Tyr630His)
c.2461T>C (p.Tyr821His)
n.15491T>C
c.15475T>C (p.Tyr5159His)
c.15397T>C (p.Tyr5133His)
c.12781T>C (p.Tyr4261His)
c.15499T>C (p.Tyr5167His)
c.15496T>C (p.Tyr5166His)
c.15418T>C (p.Tyr5140His)
c.15403T>C (p.Tyr5135His)
c.15319T>C (p.Tyr5107His)
c.*432T>C (n.*432T>C)
c.8617T>C (p.Tyr2873His)
c.8596T>C (p.Tyr2866His)
n.15494T>C
5g.90810738T>GCA360409697ADGRV1c.15478T>G (p.Tyr5160Asp)
c.4432T>G (p.Tyr1478Asp)
n.2745T>G
c.265+134529T>G (n.265+134529T>G)
c.1888T>G (p.Tyr630Asp)
c.2461T>G (p.Tyr821Asp)
n.15491T>G
c.15475T>G (p.Tyr5159Asp)
c.15397T>G (p.Tyr5133Asp)
c.12781T>G (p.Tyr4261Asp)
c.15499T>G (p.Tyr5167Asp)
c.15496T>G (p.Tyr5166Asp)
c.15418T>G (p.Tyr5140Asp)
c.15403T>G (p.Tyr5135Asp)
c.15319T>G (p.Tyr5107Asp)
c.*432T>G (n.*432T>G)
c.8617T>G (p.Tyr2873Asp)
c.8596T>G (p.Tyr2866Asp)
n.15494T>G
5g.90810739A>CCA360409699ADGRV1c.15479A>C (p.Tyr5160Ser)
c.4433A>C (p.Tyr1478Ser)
n.2746A>C
c.265+134530A>C (n.265+134530A>C)
c.1889A>C (p.Tyr630Ser)
c.2462A>C (p.Tyr821Ser)
n.15492A>C
c.15476A>C (p.Tyr5159Ser)
c.15398A>C (p.Tyr5133Ser)
c.12782A>C (p.Tyr4261Ser)
c.15500A>C (p.Tyr5167Ser)
c.15497A>C (p.Tyr5166Ser)
c.15419A>C (p.Tyr5140Ser)
c.15404A>C (p.Tyr5135Ser)
c.15320A>C (p.Tyr5107Ser)
c.*433A>C (n.*433A>C)
c.8618A>C (p.Tyr2873Ser)
c.8597A>C (p.Tyr2866Ser)
n.15495A>C
5g.90810739A>GCA360409704ADGRV1c.15479A>G (p.Tyr5160Cys)
c.4433A>G (p.Tyr1478Cys)
n.2746A>G
c.265+134530A>G (n.265+134530A>G)
c.1889A>G (p.Tyr630Cys)
c.2462A>G (p.Tyr821Cys)
n.15492A>G
c.15476A>G (p.Tyr5159Cys)
c.15398A>G (p.Tyr5133Cys)
c.12782A>G (p.Tyr4261Cys)
c.15500A>G (p.Tyr5167Cys)
c.15497A>G (p.Tyr5166Cys)
c.15419A>G (p.Tyr5140Cys)
c.15404A>G (p.Tyr5135Cys)
c.15320A>G (p.Tyr5107Cys)
c.*433A>G (n.*433A>G)
c.8618A>G (p.Tyr2873Cys)
c.8597A>G (p.Tyr2866Cys)
n.15495A>G
5g.90810739A>TCA360409707ADGRV1c.15479A>T (p.Tyr5160Phe)
c.4433A>T (p.Tyr1478Phe)
n.2746A>T
c.265+134530A>T (n.265+134530A>T)
c.1889A>T (p.Tyr630Phe)
c.2462A>T (p.Tyr821Phe)
n.15492A>T
c.15476A>T (p.Tyr5159Phe)
c.15398A>T (p.Tyr5133Phe)
c.12782A>T (p.Tyr4261Phe)
c.15500A>T (p.Tyr5167Phe)
c.15497A>T (p.Tyr5166Phe)
c.15419A>T (p.Tyr5140Phe)
c.15404A>T (p.Tyr5135Phe)
c.15320A>T (p.Tyr5107Phe)
c.*433A>T (n.*433A>T)
c.8618A>T (p.Tyr2873Phe)
c.8597A>T (p.Tyr2866Phe)
n.15495A>T

Number of alleles fetched