Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
5g.90810740C>ACA360409708ADGRV1c.15480C>A (p.Tyr5160Ter)
c.4434C>A (p.Tyr1478Ter)
n.2747C>A
c.265+134531C>A (n.265+134531C>A)
c.1890C>A (p.Tyr630Ter)
c.2463C>A (p.Tyr821Ter)
n.15493C>A
c.15477C>A (p.Tyr5159Ter)
c.15399C>A (p.Tyr5133Ter)
c.12783C>A (p.Tyr4261Ter)
c.15501C>A (p.Tyr5167Ter)
c.15498C>A (p.Tyr5166Ter)
c.15420C>A (p.Tyr5140Ter)
c.15405C>A (p.Tyr5135Ter)
c.15321C>A (p.Tyr5107Ter)
c.*434C>A (n.*434C>A)
c.8619C>A (p.Tyr2873Ter)
c.8598C>A (p.Tyr2866Ter)
n.15496C>A
 ClinVar dbSNP
5g.90810740C>GCA360409709ADGRV1c.15480C>G (p.Tyr5160Ter)
c.4434C>G (p.Tyr1478Ter)
n.2747C>G
c.265+134531C>G (n.265+134531C>G)
c.1890C>G (p.Tyr630Ter)
c.2463C>G (p.Tyr821Ter)
n.15493C>G
c.15477C>G (p.Tyr5159Ter)
c.15399C>G (p.Tyr5133Ter)
c.12783C>G (p.Tyr4261Ter)
c.15501C>G (p.Tyr5167Ter)
c.15498C>G (p.Tyr5166Ter)
c.15420C>G (p.Tyr5140Ter)
c.15405C>G (p.Tyr5135Ter)
c.15321C>G (p.Tyr5107Ter)
c.*434C>G (n.*434C>G)
c.8619C>G (p.Tyr2873Ter)
c.8598C>G (p.Tyr2866Ter)
n.15496C>G
5g.90810740C>TCA445468371ADGRV1c.15480C>T (p.Tyr5160=)
c.4434C>T (p.Tyr1478=)
n.2747C>T
c.265+134531C>T (n.265+134531C>T)
c.1890C>T (p.Tyr630=)
c.2463C>T (p.Tyr821=)
n.15493C>T
c.15477C>T (p.Tyr5159=)
c.15399C>T (p.Tyr5133=)
c.12783C>T (p.Tyr4261=)
c.15501C>T (p.Tyr5167=)
c.15498C>T (p.Tyr5166=)
c.15420C>T (p.Tyr5140=)
c.15405C>T (p.Tyr5135=)
c.15321C>T (p.Tyr5107=)
c.*434C>T (n.*434C>T)
c.8619C>T (p.Tyr2873=)
c.8598C>T (p.Tyr2866=)
n.15496C>T
5g.90810741C>ACA360409711ADGRV1c.15481C>A (p.Leu5161Ile)
c.4435C>A (p.Leu1479Ile)
n.2748C>A
c.265+134532C>A (n.265+134532C>A)
c.1891C>A (p.Leu631Ile)
c.2464C>A (p.Leu822Ile)
n.15494C>A
c.15478C>A (p.Leu5160Ile)
c.15400C>A (p.Leu5134Ile)
c.12784C>A (p.Leu4262Ile)
c.15502C>A (p.Leu5168Ile)
c.15499C>A (p.Leu5167Ile)
c.15421C>A (p.Leu5141Ile)
c.15406C>A (p.Leu5136Ile)
c.15322C>A (p.Leu5108Ile)
c.*435C>A (n.*435C>A)
c.8620C>A (p.Leu2874Ile)
c.8599C>A (p.Leu2867Ile)
n.15497C>A
5g.90810741C>GCA360409712ADGRV1c.15481C>G (p.Leu5161Val)
c.4435C>G (p.Leu1479Val)
n.2748C>G
c.265+134532C>G (n.265+134532C>G)
c.1891C>G (p.Leu631Val)
c.2464C>G (p.Leu822Val)
n.15494C>G
c.15478C>G (p.Leu5160Val)
c.15400C>G (p.Leu5134Val)
c.12784C>G (p.Leu4262Val)
c.15502C>G (p.Leu5168Val)
c.15499C>G (p.Leu5167Val)
c.15421C>G (p.Leu5141Val)
c.15406C>G (p.Leu5136Val)
c.15322C>G (p.Leu5108Val)
c.*435C>G (n.*435C>G)
c.8620C>G (p.Leu2874Val)
c.8599C>G (p.Leu2867Val)
n.15497C>G
5g.90810741C>TCA360409710ADGRV1c.15481C>T (p.Leu5161Phe)
c.4435C>T (p.Leu1479Phe)
n.2748C>T
c.265+134532C>T (n.265+134532C>T)
c.1891C>T (p.Leu631Phe)
c.2464C>T (p.Leu822Phe)
n.15494C>T
c.15478C>T (p.Leu5160Phe)
c.15400C>T (p.Leu5134Phe)
c.12784C>T (p.Leu4262Phe)
c.15502C>T (p.Leu5168Phe)
c.15499C>T (p.Leu5167Phe)
c.15421C>T (p.Leu5141Phe)
c.15406C>T (p.Leu5136Phe)
c.15322C>T (p.Leu5108Phe)
c.*435C>T (n.*435C>T)
c.8620C>T (p.Leu2874Phe)
c.8599C>T (p.Leu2867Phe)
n.15497C>T
 dbSNP
5g.90810742_90810746delCA2674577083ADGRV1c.15482_15486del (p.Leu5161HisfsTer19)
c.4436_4440del (p.Leu1479HisfsTer19)
n.2749_2753del
c.265+134533_265+134537del (n.265+134533_265+134537del)
c.1892_1896del (p.Leu631HisfsTer19)
c.2465_2469del (p.Leu822HisfsTer19)
n.15495_15499del
c.15479_15483del (p.Leu5160HisfsTer19)
c.15401_15405del (p.Leu5134HisfsTer19)
c.12785_12789del (p.Leu4262HisfsTer19)
c.15503_15507del (p.Leu5168HisfsTer19)
c.15500_15504del (p.Leu5167HisfsTer19)
c.15422_15426del (p.Leu5141HisfsTer19)
c.15407_15411del (p.Leu5136HisfsTer19)
c.15323_15327del (p.Leu5108HisfsTer19)
c.*436_*440del (n.*436_*440del)
c.8621_8625del (p.Leu2874HisfsTer19)
c.8600_8604del (p.Leu2867HisfsTer19)
n.15498_15502del
 gnomAD v4
5g.90810742T>ACA360409714ADGRV1c.15482T>A (p.Leu5161His)
c.4436T>A (p.Leu1479His)
n.2749T>A
c.265+134533T>A (n.265+134533T>A)
c.1892T>A (p.Leu631His)
c.2465T>A (p.Leu822His)
n.15495T>A
c.15479T>A (p.Leu5160His)
c.15401T>A (p.Leu5134His)
c.12785T>A (p.Leu4262His)
c.15503T>A (p.Leu5168His)
c.15500T>A (p.Leu5167His)
c.15422T>A (p.Leu5141His)
c.15407T>A (p.Leu5136His)
c.15323T>A (p.Leu5108His)
c.*436T>A (n.*436T>A)
c.8621T>A (p.Leu2874His)
c.8600T>A (p.Leu2867His)
n.15498T>A
5g.90810742T>CCA360409715ADGRV1c.15482T>C (p.Leu5161Pro)
c.4436T>C (p.Leu1479Pro)
n.2749T>C
c.265+134533T>C (n.265+134533T>C)
c.1892T>C (p.Leu631Pro)
c.2465T>C (p.Leu822Pro)
n.15495T>C
c.15479T>C (p.Leu5160Pro)
c.15401T>C (p.Leu5134Pro)
c.12785T>C (p.Leu4262Pro)
c.15503T>C (p.Leu5168Pro)
c.15500T>C (p.Leu5167Pro)
c.15422T>C (p.Leu5141Pro)
c.15407T>C (p.Leu5136Pro)
c.15323T>C (p.Leu5108Pro)
c.*436T>C (n.*436T>C)
c.8621T>C (p.Leu2874Pro)
c.8600T>C (p.Leu2867Pro)
n.15498T>C
5g.90810742T>GCA360409716ADGRV1c.15482T>G (p.Leu5161Arg)
c.4436T>G (p.Leu1479Arg)
n.2749T>G
c.265+134533T>G (n.265+134533T>G)
c.1892T>G (p.Leu631Arg)
c.2465T>G (p.Leu822Arg)
n.15495T>G
c.15479T>G (p.Leu5160Arg)
c.15401T>G (p.Leu5134Arg)
c.12785T>G (p.Leu4262Arg)
c.15503T>G (p.Leu5168Arg)
c.15500T>G (p.Leu5167Arg)
c.15422T>G (p.Leu5141Arg)
c.15407T>G (p.Leu5136Arg)
c.15323T>G (p.Leu5108Arg)
c.*436T>G (n.*436T>G)
c.8621T>G (p.Leu2874Arg)
c.8600T>G (p.Leu2867Arg)
n.15498T>G
5g.90810743C>ACA445468379ADGRV1c.15483C>A (p.Leu5161=)
c.4437C>A (p.Leu1479=)
n.2750C>A
c.265+134534C>A (n.265+134534C>A)
c.1893C>A (p.Leu631=)
c.2466C>A (p.Leu822=)
n.15496C>A
c.15480C>A (p.Leu5160=)
c.15402C>A (p.Leu5134=)
c.12786C>A (p.Leu4262=)
c.15504C>A (p.Leu5168=)
c.15501C>A (p.Leu5167=)
c.15423C>A (p.Leu5141=)
c.15408C>A (p.Leu5136=)
c.15324C>A (p.Leu5108=)
c.*437C>A (n.*437C>A)
c.8622C>A (p.Leu2874=)
c.8601C>A (p.Leu2867=)
n.15499C>A
5g.90810743C>GCA445468381ADGRV1c.15483C>G (p.Leu5161=)
c.4437C>G (p.Leu1479=)
n.2750C>G
c.265+134534C>G (n.265+134534C>G)
c.1893C>G (p.Leu631=)
c.2466C>G (p.Leu822=)
n.15496C>G
c.15480C>G (p.Leu5160=)
c.15402C>G (p.Leu5134=)
c.12786C>G (p.Leu4262=)
c.15504C>G (p.Leu5168=)
c.15501C>G (p.Leu5167=)
c.15423C>G (p.Leu5141=)
c.15408C>G (p.Leu5136=)
c.15324C>G (p.Leu5108=)
c.*437C>G (n.*437C>G)
c.8622C>G (p.Leu2874=)
c.8601C>G (p.Leu2867=)
n.15499C>G
5g.90810743C>TCA445468378ADGRV1c.15483C>T (p.Leu5161=)
c.4437C>T (p.Leu1479=)
n.2750C>T
c.265+134534C>T (n.265+134534C>T)
c.1893C>T (p.Leu631=)
c.2466C>T (p.Leu822=)
n.15496C>T
c.15480C>T (p.Leu5160=)
c.15402C>T (p.Leu5134=)
c.12786C>T (p.Leu4262=)
c.15504C>T (p.Leu5168=)
c.15501C>T (p.Leu5167=)
c.15423C>T (p.Leu5141=)
c.15408C>T (p.Leu5136=)
c.15324C>T (p.Leu5108=)
c.*437C>T (n.*437C>T)
c.8622C>T (p.Leu2874=)
c.8601C>T (p.Leu2867=)
n.15499C>T
5g.90810744A>CCA360409717ADGRV1c.15484A>C (p.Ser5162Arg)
c.4438A>C (p.Ser1480Arg)
n.2751A>C
c.265+134535A>C (n.265+134535A>C)
c.1894A>C (p.Ser632Arg)
c.2467A>C (p.Ser823Arg)
n.15497A>C
c.15481A>C (p.Ser5161Arg)
c.15403A>C (p.Ser5135Arg)
c.12787A>C (p.Ser4263Arg)
c.15505A>C (p.Ser5169Arg)
c.15502A>C (p.Ser5168Arg)
c.15424A>C (p.Ser5142Arg)
c.15409A>C (p.Ser5137Arg)
c.15325A>C (p.Ser5109Arg)
c.*438A>C (n.*438A>C)
c.8623A>C (p.Ser2875Arg)
c.8602A>C (p.Ser2868Arg)
n.15500A>C
5g.90810744A>GCA360409718ADGRV1c.15484A>G (p.Ser5162Gly)
c.4438A>G (p.Ser1480Gly)
n.2751A>G
c.265+134535A>G (n.265+134535A>G)
c.1894A>G (p.Ser632Gly)
c.2467A>G (p.Ser823Gly)
n.15497A>G
c.15481A>G (p.Ser5161Gly)
c.15403A>G (p.Ser5135Gly)
c.12787A>G (p.Ser4263Gly)
c.15505A>G (p.Ser5169Gly)
c.15502A>G (p.Ser5168Gly)
c.15424A>G (p.Ser5142Gly)
c.15409A>G (p.Ser5137Gly)
c.15325A>G (p.Ser5109Gly)
c.*438A>G (n.*438A>G)
c.8623A>G (p.Ser2875Gly)
c.8602A>G (p.Ser2868Gly)
n.15500A>G
 gnomAD v4
5g.90810744A>TCA360409719ADGRV1c.15484A>T (p.Ser5162Cys)
c.4438A>T (p.Ser1480Cys)
n.2751A>T
c.265+134535A>T (n.265+134535A>T)
c.1894A>T (p.Ser632Cys)
c.2467A>T (p.Ser823Cys)
n.15497A>T
c.15481A>T (p.Ser5161Cys)
c.15403A>T (p.Ser5135Cys)
c.12787A>T (p.Ser4263Cys)
c.15505A>T (p.Ser5169Cys)
c.15502A>T (p.Ser5168Cys)
c.15424A>T (p.Ser5142Cys)
c.15409A>T (p.Ser5137Cys)
c.15325A>T (p.Ser5109Cys)
c.*438A>T (n.*438A>T)
c.8623A>T (p.Ser2875Cys)
c.8602A>T (p.Ser2868Cys)
n.15500A>T
5g.90810745G>ACA3341929ADGRV1c.15485G>A (p.Ser5162Asn)
c.4439G>A (p.Ser1480Asn)
n.2752G>A
c.265+134536G>A (n.265+134536G>A)
c.1895G>A (p.Ser632Asn)
c.2468G>A (p.Ser823Asn)
n.15498G>A
c.15482G>A (p.Ser5161Asn)
c.15404G>A (p.Ser5135Asn)
c.12788G>A (p.Ser4263Asn)
c.15506G>A (p.Ser5169Asn)
c.15503G>A (p.Ser5168Asn)
c.15425G>A (p.Ser5142Asn)
c.15410G>A (p.Ser5137Asn)
c.15326G>A (p.Ser5109Asn)
c.*439G>A (n.*439G>A)
c.8624G>A (p.Ser2875Asn)
c.8603G>A (p.Ser2868Asn)
n.15501G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810745G>CCA360409728ADGRV1c.15485G>C (p.Ser5162Thr)
c.4439G>C (p.Ser1480Thr)
n.2752G>C
c.265+134536G>C (n.265+134536G>C)
c.1895G>C (p.Ser632Thr)
c.2468G>C (p.Ser823Thr)
n.15498G>C
c.15482G>C (p.Ser5161Thr)
c.15404G>C (p.Ser5135Thr)
c.12788G>C (p.Ser4263Thr)
c.15506G>C (p.Ser5169Thr)
c.15503G>C (p.Ser5168Thr)
c.15425G>C (p.Ser5142Thr)
c.15410G>C (p.Ser5137Thr)
c.15326G>C (p.Ser5109Thr)
c.*439G>C (n.*439G>C)
c.8624G>C (p.Ser2875Thr)
c.8603G>C (p.Ser2868Thr)
n.15501G>C
5g.90810745G=CA1562911513ADGRV1c.15485G= (p.Ser5162=)
c.4439G= (p.Ser1480=)
n.2752G=
c.265+134536G= (n.265+134536G=)
c.1895G= (p.Ser632=)
c.2468G= (p.Ser823=)
n.15498G=
c.15482G= (p.Ser5161=)
c.15404G= (p.Ser5135=)
c.12788G= (p.Ser4263=)
c.15506G= (p.Ser5169=)
c.15503G= (p.Ser5168=)
c.15425G= (p.Ser5142=)
c.15410G= (p.Ser5137=)
c.15326G= (p.Ser5109=)
c.*439G= (n.*439G=)
c.8624G= (p.Ser2875=)
c.8603G= (p.Ser2868=)
n.15501G=
5g.90810745G>TCA360409724ADGRV1c.15485G>T (p.Ser5162Ile)
c.4439G>T (p.Ser1480Ile)
n.2752G>T
c.265+134536G>T (n.265+134536G>T)
c.1895G>T (p.Ser632Ile)
c.2468G>T (p.Ser823Ile)
n.15498G>T
c.15482G>T (p.Ser5161Ile)
c.15404G>T (p.Ser5135Ile)
c.12788G>T (p.Ser4263Ile)
c.15506G>T (p.Ser5169Ile)
c.15503G>T (p.Ser5168Ile)
c.15425G>T (p.Ser5142Ile)
c.15410G>T (p.Ser5137Ile)
c.15326G>T (p.Ser5109Ile)
c.*439G>T (n.*439G>T)
c.8624G>T (p.Ser2875Ile)
c.8603G>T (p.Ser2868Ile)
n.15501G>T
5g.90810746C>ACA360409729ADGRV1c.15486C>A (p.Ser5162Arg)
c.4440C>A (p.Ser1480Arg)
n.2753C>A
c.265+134537C>A (n.265+134537C>A)
c.1896C>A (p.Ser632Arg)
c.2469C>A (p.Ser823Arg)
n.15499C>A
c.15483C>A (p.Ser5161Arg)
c.15405C>A (p.Ser5135Arg)
c.12789C>A (p.Ser4263Arg)
c.15507C>A (p.Ser5169Arg)
c.15504C>A (p.Ser5168Arg)
c.15426C>A (p.Ser5142Arg)
c.15411C>A (p.Ser5137Arg)
c.15327C>A (p.Ser5109Arg)
c.*440C>A (n.*440C>A)
c.8625C>A (p.Ser2875Arg)
c.8604C>A (p.Ser2868Arg)
n.15502C>A
5g.90810746C>GCA360409731ADGRV1c.15486C>G (p.Ser5162Arg)
c.4440C>G (p.Ser1480Arg)
n.2753C>G
c.265+134537C>G (n.265+134537C>G)
c.1896C>G (p.Ser632Arg)
c.2469C>G (p.Ser823Arg)
n.15499C>G
c.15483C>G (p.Ser5161Arg)
c.15405C>G (p.Ser5135Arg)
c.12789C>G (p.Ser4263Arg)
c.15507C>G (p.Ser5169Arg)
c.15504C>G (p.Ser5168Arg)
c.15426C>G (p.Ser5142Arg)
c.15411C>G (p.Ser5137Arg)
c.15327C>G (p.Ser5109Arg)
c.*440C>G (n.*440C>G)
c.8625C>G (p.Ser2875Arg)
c.8604C>G (p.Ser2868Arg)
n.15502C>G
5g.90810746C>TCA445468389ADGRV1c.15486C>T (p.Ser5162=)
c.4440C>T (p.Ser1480=)
n.2753C>T
c.265+134537C>T (n.265+134537C>T)
c.1896C>T (p.Ser632=)
c.2469C>T (p.Ser823=)
n.15499C>T
c.15483C>T (p.Ser5161=)
c.15405C>T (p.Ser5135=)
c.12789C>T (p.Ser4263=)
c.15507C>T (p.Ser5169=)
c.15504C>T (p.Ser5168=)
c.15426C>T (p.Ser5142=)
c.15411C>T (p.Ser5137=)
c.15327C>T (p.Ser5109=)
c.*440C>T (n.*440C>T)
c.8625C>T (p.Ser2875=)
c.8604C>T (p.Ser2868=)
n.15502C>T
5g.90810747A>CCA360409732ADGRV1c.15487A>C (p.Thr5163Pro)
c.4441A>C (p.Thr1481Pro)
n.2754A>C
c.265+134538A>C (n.265+134538A>C)
c.1897A>C (p.Thr633Pro)
c.2470A>C (p.Thr824Pro)
n.15500A>C
c.15484A>C (p.Thr5162Pro)
c.15406A>C (p.Thr5136Pro)
c.12790A>C (p.Thr4264Pro)
c.15508A>C (p.Thr5170Pro)
c.15505A>C (p.Thr5169Pro)
c.15427A>C (p.Thr5143Pro)
c.15412A>C (p.Thr5138Pro)
c.15328A>C (p.Thr5110Pro)
c.*441A>C (n.*441A>C)
c.8626A>C (p.Thr2876Pro)
c.8605A>C (p.Thr2869Pro)
n.15503A>C
5g.90810747A>GCA360409733ADGRV1c.15487A>G (p.Thr5163Ala)
c.4441A>G (p.Thr1481Ala)
n.2754A>G
c.265+134538A>G (n.265+134538A>G)
c.1897A>G (p.Thr633Ala)
c.2470A>G (p.Thr824Ala)
n.15500A>G
c.15484A>G (p.Thr5162Ala)
c.15406A>G (p.Thr5136Ala)
c.12790A>G (p.Thr4264Ala)
c.15508A>G (p.Thr5170Ala)
c.15505A>G (p.Thr5169Ala)
c.15427A>G (p.Thr5143Ala)
c.15412A>G (p.Thr5138Ala)
c.15328A>G (p.Thr5110Ala)
c.*441A>G (n.*441A>G)
c.8626A>G (p.Thr2876Ala)
c.8605A>G (p.Thr2869Ala)
n.15503A>G
 gnomAD v4
5g.90810747A>TCA360409734ADGRV1c.15487A>T (p.Thr5163Ser)
c.4441A>T (p.Thr1481Ser)
n.2754A>T
c.265+134538A>T (n.265+134538A>T)
c.1897A>T (p.Thr633Ser)
c.2470A>T (p.Thr824Ser)
n.15500A>T
c.15484A>T (p.Thr5162Ser)
c.15406A>T (p.Thr5136Ser)
c.12790A>T (p.Thr4264Ser)
c.15508A>T (p.Thr5170Ser)
c.15505A>T (p.Thr5169Ser)
c.15427A>T (p.Thr5143Ser)
c.15412A>T (p.Thr5138Ser)
c.15328A>T (p.Thr5110Ser)
c.*441A>T (n.*441A>T)
c.8626A>T (p.Thr2876Ser)
c.8605A>T (p.Thr2869Ser)
n.15503A>T
5g.90810748C>ACA360409738ADGRV1c.15488C>A (p.Thr5163Lys)
c.4442C>A (p.Thr1481Lys)
n.2755C>A
c.265+134539C>A (n.265+134539C>A)
c.1898C>A (p.Thr633Lys)
c.2471C>A (p.Thr824Lys)
n.15501C>A
c.15485C>A (p.Thr5162Lys)
c.15407C>A (p.Thr5136Lys)
c.12791C>A (p.Thr4264Lys)
c.15509C>A (p.Thr5170Lys)
c.15506C>A (p.Thr5169Lys)
c.15428C>A (p.Thr5143Lys)
c.15413C>A (p.Thr5138Lys)
c.15329C>A (p.Thr5110Lys)
c.*442C>A (n.*442C>A)
c.8627C>A (p.Thr2876Lys)
c.8606C>A (p.Thr2869Lys)
n.15504C>A
5g.90810748C=CA1562911514ADGRV1c.15488C= (p.Thr5163=)
c.4442C= (p.Thr1481=)
n.2755C=
c.265+134539C= (n.265+134539C=)
c.1898C= (p.Thr633=)
c.2471C= (p.Thr824=)
n.15501C=
c.15485C= (p.Thr5162=)
c.15407C= (p.Thr5136=)
c.12791C= (p.Thr4264=)
c.15509C= (p.Thr5170=)
c.15506C= (p.Thr5169=)
c.15428C= (p.Thr5143=)
c.15413C= (p.Thr5138=)
c.15329C= (p.Thr5110=)
c.*442C= (n.*442C=)
c.8627C= (p.Thr2876=)
c.8606C= (p.Thr2869=)
n.15504C=
5g.90810748C>GCA360409739ADGRV1c.15488C>G (p.Thr5163Arg)
c.4442C>G (p.Thr1481Arg)
n.2755C>G
c.265+134539C>G (n.265+134539C>G)
c.1898C>G (p.Thr633Arg)
c.2471C>G (p.Thr824Arg)
n.15501C>G
c.15485C>G (p.Thr5162Arg)
c.15407C>G (p.Thr5136Arg)
c.12791C>G (p.Thr4264Arg)
c.15509C>G (p.Thr5170Arg)
c.15506C>G (p.Thr5169Arg)
c.15428C>G (p.Thr5143Arg)
c.15413C>G (p.Thr5138Arg)
c.15329C>G (p.Thr5110Arg)
c.*442C>G (n.*442C>G)
c.8627C>G (p.Thr2876Arg)
c.8606C>G (p.Thr2869Arg)
n.15504C>G
 gnomAD v4
5g.90810748C>TCA360409736ADGRV1c.15488C>T (p.Thr5163Ile)
c.4442C>T (p.Thr1481Ile)
n.2755C>T
c.265+134539C>T (n.265+134539C>T)
c.1898C>T (p.Thr633Ile)
c.2471C>T (p.Thr824Ile)
n.15501C>T
c.15485C>T (p.Thr5162Ile)
c.15407C>T (p.Thr5136Ile)
c.12791C>T (p.Thr4264Ile)
c.15509C>T (p.Thr5170Ile)
c.15506C>T (p.Thr5169Ile)
c.15428C>T (p.Thr5143Ile)
c.15413C>T (p.Thr5138Ile)
c.15329C>T (p.Thr5110Ile)
c.*442C>T (n.*442C>T)
c.8627C>T (p.Thr2876Ile)
c.8606C>T (p.Thr2869Ile)
n.15504C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90810749A=CA1562911515ADGRV1c.15489A= (p.Thr5163=)
c.4443A= (p.Thr1481=)
n.2756A=
c.265+134540A= (n.265+134540A=)
c.1899A= (p.Thr633=)
c.2472A= (p.Thr824=)
n.15502A=
c.15486A= (p.Thr5162=)
c.15408A= (p.Thr5136=)
c.12792A= (p.Thr4264=)
c.15510A= (p.Thr5170=)
c.15507A= (p.Thr5169=)
c.15429A= (p.Thr5143=)
c.15414A= (p.Thr5138=)
c.15330A= (p.Thr5110=)
c.*443A= (n.*443A=)
c.8628A= (p.Thr2876=)
c.8607A= (p.Thr2869=)
n.15505A=
5g.90810749A>CCA445468400ADGRV1c.15489A>C (p.Thr5163=)
c.4443A>C (p.Thr1481=)
n.2756A>C
c.265+134540A>C (n.265+134540A>C)
c.1899A>C (p.Thr633=)
c.2472A>C (p.Thr824=)
n.15502A>C
c.15486A>C (p.Thr5162=)
c.15408A>C (p.Thr5136=)
c.12792A>C (p.Thr4264=)
c.15510A>C (p.Thr5170=)
c.15507A>C (p.Thr5169=)
c.15429A>C (p.Thr5143=)
c.15414A>C (p.Thr5138=)
c.15330A>C (p.Thr5110=)
c.*443A>C (n.*443A>C)
c.8628A>C (p.Thr2876=)
c.8607A>C (p.Thr2869=)
n.15505A>C
5g.90810749A>GCA122821791ADGRV1c.15489A>G (p.Thr5163=)
c.4443A>G (p.Thr1481=)
n.2756A>G
c.265+134540A>G (n.265+134540A>G)
c.1899A>G (p.Thr633=)
c.2472A>G (p.Thr824=)
n.15502A>G
c.15486A>G (p.Thr5162=)
c.15408A>G (p.Thr5136=)
c.12792A>G (p.Thr4264=)
c.15510A>G (p.Thr5170=)
c.15507A>G (p.Thr5169=)
c.15429A>G (p.Thr5143=)
c.15414A>G (p.Thr5138=)
c.15330A>G (p.Thr5110=)
c.*443A>G (n.*443A>G)
c.8628A>G (p.Thr2876=)
c.8607A>G (p.Thr2869=)
n.15505A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90810749A>TCA445468398ADGRV1c.15489A>T (p.Thr5163=)
c.4443A>T (p.Thr1481=)
n.2756A>T
c.265+134540A>T (n.265+134540A>T)
c.1899A>T (p.Thr633=)
c.2472A>T (p.Thr824=)
n.15502A>T
c.15486A>T (p.Thr5162=)
c.15408A>T (p.Thr5136=)
c.12792A>T (p.Thr4264=)
c.15510A>T (p.Thr5170=)
c.15507A>T (p.Thr5169=)
c.15429A>T (p.Thr5143=)
c.15414A>T (p.Thr5138=)
c.15330A>T (p.Thr5110=)
c.*443A>T (n.*443A>T)
c.8628A>T (p.Thr2876=)
c.8607A>T (p.Thr2869=)
n.15505A>T
5g.90810750A>CCA360409740ADGRV1c.15490A>C (p.Ser5164Arg)
c.4444A>C (p.Ser1482Arg)
n.2757A>C
c.265+134541A>C (n.265+134541A>C)
c.1900A>C (p.Ser634Arg)
c.2473A>C (p.Ser825Arg)
n.15503A>C
c.15487A>C (p.Ser5163Arg)
c.15409A>C (p.Ser5137Arg)
c.12793A>C (p.Ser4265Arg)
c.15511A>C (p.Ser5171Arg)
c.15508A>C (p.Ser5170Arg)
c.15430A>C (p.Ser5144Arg)
c.15415A>C (p.Ser5139Arg)
c.15331A>C (p.Ser5111Arg)
c.*444A>C (n.*444A>C)
c.8629A>C (p.Ser2877Arg)
c.8608A>C (p.Ser2870Arg)
n.15506A>C
5g.90810750A>GCA360409741ADGRV1c.15490A>G (p.Ser5164Gly)
c.4444A>G (p.Ser1482Gly)
n.2757A>G
c.265+134541A>G (n.265+134541A>G)
c.1900A>G (p.Ser634Gly)
c.2473A>G (p.Ser825Gly)
n.15503A>G
c.15487A>G (p.Ser5163Gly)
c.15409A>G (p.Ser5137Gly)
c.12793A>G (p.Ser4265Gly)
c.15511A>G (p.Ser5171Gly)
c.15508A>G (p.Ser5170Gly)
c.15430A>G (p.Ser5144Gly)
c.15415A>G (p.Ser5139Gly)
c.15331A>G (p.Ser5111Gly)
c.*444A>G (n.*444A>G)
c.8629A>G (p.Ser2877Gly)
c.8608A>G (p.Ser2870Gly)
n.15506A>G
5g.90810750A>TCA360409745ADGRV1c.15490A>T (p.Ser5164Cys)
c.4444A>T (p.Ser1482Cys)
n.2757A>T
c.265+134541A>T (n.265+134541A>T)
c.1900A>T (p.Ser634Cys)
c.2473A>T (p.Ser825Cys)
n.15503A>T
c.15487A>T (p.Ser5163Cys)
c.15409A>T (p.Ser5137Cys)
c.12793A>T (p.Ser4265Cys)
c.15511A>T (p.Ser5171Cys)
c.15508A>T (p.Ser5170Cys)
c.15430A>T (p.Ser5144Cys)
c.15415A>T (p.Ser5139Cys)
c.15331A>T (p.Ser5111Cys)
c.*444A>T (n.*444A>T)
c.8629A>T (p.Ser2877Cys)
c.8608A>T (p.Ser2870Cys)
n.15506A>T
5g.90810751G>ACA360409748ADGRV1c.15491G>A (p.Ser5164Asn)
c.4445G>A (p.Ser1482Asn)
n.2758G>A
c.265+134542G>A (n.265+134542G>A)
c.1901G>A (p.Ser634Asn)
c.2474G>A (p.Ser825Asn)
n.15504G>A
c.15488G>A (p.Ser5163Asn)
c.15410G>A (p.Ser5137Asn)
c.12794G>A (p.Ser4265Asn)
c.15512G>A (p.Ser5171Asn)
c.15509G>A (p.Ser5170Asn)
c.15431G>A (p.Ser5144Asn)
c.15416G>A (p.Ser5139Asn)
c.15332G>A (p.Ser5111Asn)
c.*445G>A (n.*445G>A)
c.8630G>A (p.Ser2877Asn)
c.8609G>A (p.Ser2870Asn)
n.15507G>A
5g.90810751G>CCA360409752ADGRV1c.15491G>C (p.Ser5164Thr)
c.4445G>C (p.Ser1482Thr)
n.2758G>C
c.265+134542G>C (n.265+134542G>C)
c.1901G>C (p.Ser634Thr)
c.2474G>C (p.Ser825Thr)
n.15504G>C
c.15488G>C (p.Ser5163Thr)
c.15410G>C (p.Ser5137Thr)
c.12794G>C (p.Ser4265Thr)
c.15512G>C (p.Ser5171Thr)
c.15509G>C (p.Ser5170Thr)
c.15431G>C (p.Ser5144Thr)
c.15416G>C (p.Ser5139Thr)
c.15332G>C (p.Ser5111Thr)
c.*445G>C (n.*445G>C)
c.8630G>C (p.Ser2877Thr)
c.8609G>C (p.Ser2870Thr)
n.15507G>C
5g.90810751G=CA1562911516ADGRV1c.15491G= (p.Ser5164=)
c.4445G= (p.Ser1482=)
n.2758G=
c.265+134542G= (n.265+134542G=)
c.1901G= (p.Ser634=)
c.2474G= (p.Ser825=)
n.15504G=
c.15488G= (p.Ser5163=)
c.15410G= (p.Ser5137=)
c.12794G= (p.Ser4265=)
c.15512G= (p.Ser5171=)
c.15509G= (p.Ser5170=)
c.15431G= (p.Ser5144=)
c.15416G= (p.Ser5139=)
c.15332G= (p.Ser5111=)
c.*445G= (n.*445G=)
c.8630G= (p.Ser2877=)
c.8609G= (p.Ser2870=)
n.15507G=
5g.90810751G>TCA360409754ADGRV1c.15491G>T (p.Ser5164Ile)
c.4445G>T (p.Ser1482Ile)
n.2758G>T
c.265+134542G>T (n.265+134542G>T)
c.1901G>T (p.Ser634Ile)
c.2474G>T (p.Ser825Ile)
n.15504G>T
c.15488G>T (p.Ser5163Ile)
c.15410G>T (p.Ser5137Ile)
c.12794G>T (p.Ser4265Ile)
c.15512G>T (p.Ser5171Ile)
c.15509G>T (p.Ser5170Ile)
c.15431G>T (p.Ser5144Ile)
c.15416G>T (p.Ser5139Ile)
c.15332G>T (p.Ser5111Ile)
c.*445G>T (n.*445G>T)
c.8630G>T (p.Ser2877Ile)
c.8609G>T (p.Ser2870Ile)
n.15507G>T
 dbSNP
5g.90810752C>ACA360409757ADGRV1c.15492C>A (p.Ser5164Arg)
c.4446C>A (p.Ser1482Arg)
n.2759C>A
c.265+134543C>A (n.265+134543C>A)
c.1902C>A (p.Ser634Arg)
c.2475C>A (p.Ser825Arg)
n.15505C>A
c.15489C>A (p.Ser5163Arg)
c.15411C>A (p.Ser5137Arg)
c.12795C>A (p.Ser4265Arg)
c.15513C>A (p.Ser5171Arg)
c.15510C>A (p.Ser5170Arg)
c.15432C>A (p.Ser5144Arg)
c.15417C>A (p.Ser5139Arg)
c.15333C>A (p.Ser5111Arg)
c.*446C>A (n.*446C>A)
c.8631C>A (p.Ser2877Arg)
c.8610C>A (p.Ser2870Arg)
n.15508C>A
 ClinVar dbSNP
5g.90810752C=CA1562911517ADGRV1c.15492C= (p.Ser5164=)
c.4446C= (p.Ser1482=)
n.2759C=
c.265+134543C= (n.265+134543C=)
c.1902C= (p.Ser634=)
c.2475C= (p.Ser825=)
n.15505C=
c.15489C= (p.Ser5163=)
c.15411C= (p.Ser5137=)
c.12795C= (p.Ser4265=)
c.15513C= (p.Ser5171=)
c.15510C= (p.Ser5170=)
c.15432C= (p.Ser5144=)
c.15417C= (p.Ser5139=)
c.15333C= (p.Ser5111=)
c.*446C= (n.*446C=)
c.8631C= (p.Ser2877=)
c.8610C= (p.Ser2870=)
n.15508C=
5g.90810752C>GCA360409759ADGRV1c.15492C>G (p.Ser5164Arg)
c.4446C>G (p.Ser1482Arg)
n.2759C>G
c.265+134543C>G (n.265+134543C>G)
c.1902C>G (p.Ser634Arg)
c.2475C>G (p.Ser825Arg)
n.15505C>G
c.15489C>G (p.Ser5163Arg)
c.15411C>G (p.Ser5137Arg)
c.12795C>G (p.Ser4265Arg)
c.15513C>G (p.Ser5171Arg)
c.15510C>G (p.Ser5170Arg)
c.15432C>G (p.Ser5144Arg)
c.15417C>G (p.Ser5139Arg)
c.15333C>G (p.Ser5111Arg)
c.*446C>G (n.*446C>G)
c.8631C>G (p.Ser2877Arg)
c.8610C>G (p.Ser2870Arg)
n.15508C>G
5g.90810752C>TCA3341930ADGRV1c.15492C>T (p.Ser5164=)
c.4446C>T (p.Ser1482=)
n.2759C>T
c.265+134543C>T (n.265+134543C>T)
c.1902C>T (p.Ser634=)
c.2475C>T (p.Ser825=)
n.15505C>T
c.15489C>T (p.Ser5163=)
c.15411C>T (p.Ser5137=)
c.12795C>T (p.Ser4265=)
c.15513C>T (p.Ser5171=)
c.15510C>T (p.Ser5170=)
c.15432C>T (p.Ser5144=)
c.15417C>T (p.Ser5139=)
c.15333C>T (p.Ser5111=)
c.*446C>T (n.*446C>T)
c.8631C>T (p.Ser2877=)
c.8610C>T (p.Ser2870=)
n.15508C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810752_90810753delinsCACA1562911518ADGRV1c.15492_15493delinsCA (p.Ser5164=)
c.4446_4447delinsCA (p.Ser1482=)
n.2759_2760delinsCA
c.265+134543_265+134544delinsCA (n.265+134543_265+134544delinsCA)
c.1902_1903delinsCA (p.Ser634=)
c.2475_2476delinsCA (p.Ser825=)
n.15505_15506delinsCA
c.15489_15490delinsCA (p.Ser5163=)
c.15411_15412delinsCA (p.Ser5137=)
c.12795_12796delinsCA (p.Ser4265=)
c.15513_15514delinsCA (p.Ser5171=)
c.15510_15511delinsCA (p.Ser5170=)
c.15432_15433delinsCA (p.Ser5144=)
c.15417_15418delinsCA (p.Ser5139=)
c.15333_15334delinsCA (p.Ser5111=)
c.*446_*447delinsCA (n.*446_*447delinsCA)
c.8631_8632delinsCA (p.Ser2877=)
c.8610_8611delinsCA (p.Ser2870=)
n.15508_15509delinsCA
5g.90810753A=CA1562911519ADGRV1c.15493A= (p.Lys5165=)
c.4447A= (p.Lys1483=)
n.2760A=
c.265+134544A= (n.265+134544A=)
c.1903A= (p.Lys635=)
c.2476A= (p.Lys826=)
n.15506A=
c.15490A= (p.Lys5164=)
c.15412A= (p.Lys5138=)
c.12796A= (p.Lys4266=)
c.15514A= (p.Lys5172=)
c.15511A= (p.Lys5171=)
c.15433A= (p.Lys5145=)
c.15418A= (p.Lys5140=)
c.15334A= (p.Lys5112=)
c.*447A= (n.*447A=)
c.8632A= (p.Lys2878=)
c.8611A= (p.Lys2871=)
n.15509A=
5g.90810753A>CCA360409768ADGRV1c.15493A>C (p.Lys5165Gln)
c.4447A>C (p.Lys1483Gln)
n.2760A>C
c.265+134544A>C (n.265+134544A>C)
c.1903A>C (p.Lys635Gln)
c.2476A>C (p.Lys826Gln)
n.15506A>C
c.15490A>C (p.Lys5164Gln)
c.15412A>C (p.Lys5138Gln)
c.12796A>C (p.Lys4266Gln)
c.15514A>C (p.Lys5172Gln)
c.15511A>C (p.Lys5171Gln)
c.15433A>C (p.Lys5145Gln)
c.15418A>C (p.Lys5140Gln)
c.15334A>C (p.Lys5112Gln)
c.*447A>C (n.*447A>C)
c.8632A>C (p.Lys2878Gln)
c.8611A>C (p.Lys2871Gln)
n.15509A>C
5g.90810753A>GCA360409770ADGRV1c.15493A>G (p.Lys5165Glu)
c.4447A>G (p.Lys1483Glu)
n.2760A>G
c.265+134544A>G (n.265+134544A>G)
c.1903A>G (p.Lys635Glu)
c.2476A>G (p.Lys826Glu)
n.15506A>G
c.15490A>G (p.Lys5164Glu)
c.15412A>G (p.Lys5138Glu)
c.12796A>G (p.Lys4266Glu)
c.15514A>G (p.Lys5172Glu)
c.15511A>G (p.Lys5171Glu)
c.15433A>G (p.Lys5145Glu)
c.15418A>G (p.Lys5140Glu)
c.15334A>G (p.Lys5112Glu)
c.*447A>G (n.*447A>G)
c.8632A>G (p.Lys2878Glu)
c.8611A>G (p.Lys2871Glu)
n.15509A>G
 dbSNP
5g.90810753A>TCA360409774ADGRV1c.15493A>T (p.Lys5165Ter)
c.4447A>T (p.Lys1483Ter)
n.2760A>T
c.265+134544A>T (n.265+134544A>T)
c.1903A>T (p.Lys635Ter)
c.2476A>T (p.Lys826Ter)
n.15506A>T
c.15490A>T (p.Lys5164Ter)
c.15412A>T (p.Lys5138Ter)
c.12796A>T (p.Lys4266Ter)
c.15514A>T (p.Lys5172Ter)
c.15511A>T (p.Lys5171Ter)
c.15433A>T (p.Lys5145Ter)
c.15418A>T (p.Lys5140Ter)
c.15334A>T (p.Lys5112Ter)
c.*447A>T (n.*447A>T)
c.8632A>T (p.Lys2878Ter)
c.8611A>T (p.Lys2871Ter)
n.15509A>T
5g.90810754delCA915943514ADGRV1c.15494del (p.Lys5165ArgfsTer?)
c.4448del (p.Lys1483ArgfsTer?)
n.2761del
c.265+134545del (n.265+134545del)
c.1904del (p.Lys635ArgfsTer?)
c.2477del (p.Lys826ArgfsTer?)
n.15507del
c.15491del (p.Lys5164ArgfsTer?)
c.15413del (p.Lys5138ArgfsTer?)
c.12797del (p.Lys4266ArgfsTer?)
c.15515del (p.Lys5172ArgfsTer?)
c.15512del (p.Lys5171ArgfsTer?)
c.15434del (p.Lys5145ArgfsTer?)
c.15419del (p.Lys5140ArgfsTer?)
c.15335del (p.Lys5112ArgfsTer?)
c.*448del (n.*448del)
c.8633del (p.Lys2878ArgfsTer?)
c.8612del (p.Lys2871ArgfsTer?)
n.15510del
 ClinVar dbSNP
5g.90810754A>CCA360409779ADGRV1c.15494A>C (p.Lys5165Thr)
c.4448A>C (p.Lys1483Thr)
n.2761A>C
c.265+134545A>C (n.265+134545A>C)
c.1904A>C (p.Lys635Thr)
c.2477A>C (p.Lys826Thr)
n.15507A>C
c.15491A>C (p.Lys5164Thr)
c.15413A>C (p.Lys5138Thr)
c.12797A>C (p.Lys4266Thr)
c.15515A>C (p.Lys5172Thr)
c.15512A>C (p.Lys5171Thr)
c.15434A>C (p.Lys5145Thr)
c.15419A>C (p.Lys5140Thr)
c.15335A>C (p.Lys5112Thr)
c.*448A>C (n.*448A>C)
c.8633A>C (p.Lys2878Thr)
c.8612A>C (p.Lys2871Thr)
n.15510A>C
5g.90810754A>GCA360409775ADGRV1c.15494A>G (p.Lys5165Arg)
c.4448A>G (p.Lys1483Arg)
n.2761A>G
c.265+134545A>G (n.265+134545A>G)
c.1904A>G (p.Lys635Arg)
c.2477A>G (p.Lys826Arg)
n.15507A>G
c.15491A>G (p.Lys5164Arg)
c.15413A>G (p.Lys5138Arg)
c.12797A>G (p.Lys4266Arg)
c.15515A>G (p.Lys5172Arg)
c.15512A>G (p.Lys5171Arg)
c.15434A>G (p.Lys5145Arg)
c.15419A>G (p.Lys5140Arg)
c.15335A>G (p.Lys5112Arg)
c.*448A>G (n.*448A>G)
c.8633A>G (p.Lys2878Arg)
c.8612A>G (p.Lys2871Arg)
n.15510A>G
 gnomAD v4
5g.90810754A>TCA360409776ADGRV1c.15494A>T (p.Lys5165Met)
c.4448A>T (p.Lys1483Met)
n.2761A>T
c.265+134545A>T (n.265+134545A>T)
c.1904A>T (p.Lys635Met)
c.2477A>T (p.Lys826Met)
n.15507A>T
c.15491A>T (p.Lys5164Met)
c.15413A>T (p.Lys5138Met)
c.12797A>T (p.Lys4266Met)
c.15515A>T (p.Lys5172Met)
c.15512A>T (p.Lys5171Met)
c.15434A>T (p.Lys5145Met)
c.15419A>T (p.Lys5140Met)
c.15335A>T (p.Lys5112Met)
c.*448A>T (n.*448A>T)
c.8633A>T (p.Lys2878Met)
c.8612A>T (p.Lys2871Met)
n.15510A>T
5g.90810755G>ACA445468428ADGRV1c.15495G>A (p.Lys5165=)
c.4449G>A (p.Lys1483=)
n.2762G>A
c.265+134546G>A (n.265+134546G>A)
c.1905G>A (p.Lys635=)
c.2478G>A (p.Lys826=)
n.15508G>A
c.15492G>A (p.Lys5164=)
c.15414G>A (p.Lys5138=)
c.12798G>A (p.Lys4266=)
c.15516G>A (p.Lys5172=)
c.15513G>A (p.Lys5171=)
c.15435G>A (p.Lys5145=)
c.15420G>A (p.Lys5140=)
c.15336G>A (p.Lys5112=)
c.*449G>A (n.*449G>A)
c.8634G>A (p.Lys2878=)
c.8613G>A (p.Lys2871=)
n.15511G>A
5g.90810755G>CCA360409781ADGRV1c.15495G>C (p.Lys5165Asn)
c.4449G>C (p.Lys1483Asn)
n.2762G>C
c.265+134546G>C (n.265+134546G>C)
c.1905G>C (p.Lys635Asn)
c.2478G>C (p.Lys826Asn)
n.15508G>C
c.15492G>C (p.Lys5164Asn)
c.15414G>C (p.Lys5138Asn)
c.12798G>C (p.Lys4266Asn)
c.15516G>C (p.Lys5172Asn)
c.15513G>C (p.Lys5171Asn)
c.15435G>C (p.Lys5145Asn)
c.15420G>C (p.Lys5140Asn)
c.15336G>C (p.Lys5112Asn)
c.*449G>C (n.*449G>C)
c.8634G>C (p.Lys2878Asn)
c.8613G>C (p.Lys2871Asn)
n.15511G>C
5g.90810755G>TCA360409784ADGRV1c.15495G>T (p.Lys5165Asn)
c.4449G>T (p.Lys1483Asn)
n.2762G>T
c.265+134546G>T (n.265+134546G>T)
c.1905G>T (p.Lys635Asn)
c.2478G>T (p.Lys826Asn)
n.15508G>T
c.15492G>T (p.Lys5164Asn)
c.15414G>T (p.Lys5138Asn)
c.12798G>T (p.Lys4266Asn)
c.15516G>T (p.Lys5172Asn)
c.15513G>T (p.Lys5171Asn)
c.15435G>T (p.Lys5145Asn)
c.15420G>T (p.Lys5140Asn)
c.15336G>T (p.Lys5112Asn)
c.*449G>T (n.*449G>T)
c.8634G>T (p.Lys2878Asn)
c.8613G>T (p.Lys2871Asn)
n.15511G>T
5g.90810756A=CA1562911520ADGRV1c.15496A= (p.Thr5166=)
c.4450A= (p.Thr1484=)
n.2763A=
c.265+134547A= (n.265+134547A=)
c.1906A= (p.Thr636=)
c.2479A= (p.Thr827=)
n.15509A=
c.15493A= (p.Thr5165=)
c.15415A= (p.Thr5139=)
c.12799A= (p.Thr4267=)
c.15517A= (p.Thr5173=)
c.15514A= (p.Thr5172=)
c.15436A= (p.Thr5146=)
c.15421A= (p.Thr5141=)
c.15337A= (p.Thr5113=)
c.*450A= (n.*450A=)
c.8635A= (p.Thr2879=)
c.8614A= (p.Thr2872=)
n.15512A=
5g.90810756A>CCA360409786ADGRV1c.15496A>C (p.Thr5166Pro)
c.4450A>C (p.Thr1484Pro)
n.2763A>C
c.265+134547A>C (n.265+134547A>C)
c.1906A>C (p.Thr636Pro)
c.2479A>C (p.Thr827Pro)
n.15509A>C
c.15493A>C (p.Thr5165Pro)
c.15415A>C (p.Thr5139Pro)
c.12799A>C (p.Thr4267Pro)
c.15517A>C (p.Thr5173Pro)
c.15514A>C (p.Thr5172Pro)
c.15436A>C (p.Thr5146Pro)
c.15421A>C (p.Thr5141Pro)
c.15337A>C (p.Thr5113Pro)
c.*450A>C (n.*450A>C)
c.8635A>C (p.Thr2879Pro)
c.8614A>C (p.Thr2872Pro)
n.15512A>C
5g.90810756A>GCA360409788ADGRV1c.15496A>G (p.Thr5166Ala)
c.4450A>G (p.Thr1484Ala)
n.2763A>G
c.265+134547A>G (n.265+134547A>G)
c.1906A>G (p.Thr636Ala)
c.2479A>G (p.Thr827Ala)
n.15509A>G
c.15493A>G (p.Thr5165Ala)
c.15415A>G (p.Thr5139Ala)
c.12799A>G (p.Thr4267Ala)
c.15517A>G (p.Thr5173Ala)
c.15514A>G (p.Thr5172Ala)
c.15436A>G (p.Thr5146Ala)
c.15421A>G (p.Thr5141Ala)
c.15337A>G (p.Thr5113Ala)
c.*450A>G (n.*450A>G)
c.8635A>G (p.Thr2879Ala)
c.8614A>G (p.Thr2872Ala)
n.15512A>G
5g.90810756A>TCA360409789ADGRV1c.15496A>T (p.Thr5166Ser)
c.4450A>T (p.Thr1484Ser)
n.2763A>T
c.265+134547A>T (n.265+134547A>T)
c.1906A>T (p.Thr636Ser)
c.2479A>T (p.Thr827Ser)
n.15509A>T
c.15493A>T (p.Thr5165Ser)
c.15415A>T (p.Thr5139Ser)
c.12799A>T (p.Thr4267Ser)
c.15517A>T (p.Thr5173Ser)
c.15514A>T (p.Thr5172Ser)
c.15436A>T (p.Thr5146Ser)
c.15421A>T (p.Thr5141Ser)
c.15337A>T (p.Thr5113Ser)
c.*450A>T (n.*450A>T)
c.8635A>T (p.Thr2879Ser)
c.8614A>T (p.Thr2872Ser)
n.15512A>T
 ClinVar dbSNP
5g.90810757C>ACA360409794ADGRV1c.15497C>A (p.Thr5166Lys)
c.4451C>A (p.Thr1484Lys)
n.2764C>A
c.265+134548C>A (n.265+134548C>A)
c.1907C>A (p.Thr636Lys)
c.2480C>A (p.Thr827Lys)
n.15510C>A
c.15494C>A (p.Thr5165Lys)
c.15416C>A (p.Thr5139Lys)
c.12800C>A (p.Thr4267Lys)
c.15518C>A (p.Thr5173Lys)
c.15515C>A (p.Thr5172Lys)
c.15437C>A (p.Thr5146Lys)
c.15422C>A (p.Thr5141Lys)
c.15338C>A (p.Thr5113Lys)
c.*451C>A (n.*451C>A)
c.8636C>A (p.Thr2879Lys)
c.8615C>A (p.Thr2872Lys)
n.15513C>A
 ClinVar dbSNP
5g.90810757C=CA1562911521ADGRV1c.15497C= (p.Thr5166=)
c.4451C= (p.Thr1484=)
n.2764C=
c.265+134548C= (n.265+134548C=)
c.1907C= (p.Thr636=)
c.2480C= (p.Thr827=)
n.15510C=
c.15494C= (p.Thr5165=)
c.15416C= (p.Thr5139=)
c.12800C= (p.Thr4267=)
c.15518C= (p.Thr5173=)
c.15515C= (p.Thr5172=)
c.15437C= (p.Thr5146=)
c.15422C= (p.Thr5141=)
c.15338C= (p.Thr5113=)
c.*451C= (n.*451C=)
c.8636C= (p.Thr2879=)
c.8615C= (p.Thr2872=)
n.15513C=
5g.90810757C>GCA360409796ADGRV1c.15497C>G (p.Thr5166Arg)
c.4451C>G (p.Thr1484Arg)
n.2764C>G
c.265+134548C>G (n.265+134548C>G)
c.1907C>G (p.Thr636Arg)
c.2480C>G (p.Thr827Arg)
n.15510C>G
c.15494C>G (p.Thr5165Arg)
c.15416C>G (p.Thr5139Arg)
c.12800C>G (p.Thr4267Arg)
c.15518C>G (p.Thr5173Arg)
c.15515C>G (p.Thr5172Arg)
c.15437C>G (p.Thr5146Arg)
c.15422C>G (p.Thr5141Arg)
c.15338C>G (p.Thr5113Arg)
c.*451C>G (n.*451C>G)
c.8636C>G (p.Thr2879Arg)
c.8615C>G (p.Thr2872Arg)
n.15513C>G
 ClinVar dbSNP
5g.90810757C>TCA3341931ADGRV1c.15497C>T (p.Thr5166Met)
c.4451C>T (p.Thr1484Met)
n.2764C>T
c.265+134548C>T (n.265+134548C>T)
c.1907C>T (p.Thr636Met)
c.2480C>T (p.Thr827Met)
n.15510C>T
c.15494C>T (p.Thr5165Met)
c.15416C>T (p.Thr5139Met)
c.12800C>T (p.Thr4267Met)
c.15518C>T (p.Thr5173Met)
c.15515C>T (p.Thr5172Met)
c.15437C>T (p.Thr5146Met)
c.15422C>T (p.Thr5141Met)
c.15338C>T (p.Thr5113Met)
c.*451C>T (n.*451C>T)
c.8636C>T (p.Thr2879Met)
c.8615C>T (p.Thr2872Met)
n.15513C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810758G>ACA3341932ADGRV1c.15498G>A (p.Thr5166=)
c.4452G>A (p.Thr1484=)
n.2765G>A
c.265+134549G>A (n.265+134549G>A)
c.1908G>A (p.Thr636=)
c.2481G>A (p.Thr827=)
n.15511G>A
c.15495G>A (p.Thr5165=)
c.15417G>A (p.Thr5139=)
c.12801G>A (p.Thr4267=)
c.15519G>A (p.Thr5173=)
c.15516G>A (p.Thr5172=)
c.15438G>A (p.Thr5146=)
c.15423G>A (p.Thr5141=)
c.15339G>A (p.Thr5113=)
c.*452G>A (n.*452G>A)
c.8637G>A (p.Thr2879=)
c.8616G>A (p.Thr2872=)
n.15514G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810758G>CCA445468435ADGRV1c.15498G>C (p.Thr5166=)
c.4452G>C (p.Thr1484=)
n.2765G>C
c.265+134549G>C (n.265+134549G>C)
c.1908G>C (p.Thr636=)
c.2481G>C (p.Thr827=)
n.15511G>C
c.15495G>C (p.Thr5165=)
c.15417G>C (p.Thr5139=)
c.12801G>C (p.Thr4267=)
c.15519G>C (p.Thr5173=)
c.15516G>C (p.Thr5172=)
c.15438G>C (p.Thr5146=)
c.15423G>C (p.Thr5141=)
c.15339G>C (p.Thr5113=)
c.*452G>C (n.*452G>C)
c.8637G>C (p.Thr2879=)
c.8616G>C (p.Thr2872=)
n.15514G>C
5g.90810758G=CA1562911522ADGRV1c.15498G= (p.Thr5166=)
c.4452G= (p.Thr1484=)
n.2765G=
c.265+134549G= (n.265+134549G=)
c.1908G= (p.Thr636=)
c.2481G= (p.Thr827=)
n.15511G=
c.15495G= (p.Thr5165=)
c.15417G= (p.Thr5139=)
c.12801G= (p.Thr4267=)
c.15519G= (p.Thr5173=)
c.15516G= (p.Thr5172=)
c.15438G= (p.Thr5146=)
c.15423G= (p.Thr5141=)
c.15339G= (p.Thr5113=)
c.*452G= (n.*452G=)
c.8637G= (p.Thr2879=)
c.8616G= (p.Thr2872=)
n.15514G=
5g.90810758G>TCA445468437ADGRV1c.15498G>T (p.Thr5166=)
c.4452G>T (p.Thr1484=)
n.2765G>T
c.265+134549G>T (n.265+134549G>T)
c.1908G>T (p.Thr636=)
c.2481G>T (p.Thr827=)
n.15511G>T
c.15495G>T (p.Thr5165=)
c.15417G>T (p.Thr5139=)
c.12801G>T (p.Thr4267=)
c.15519G>T (p.Thr5173=)
c.15516G>T (p.Thr5172=)
c.15438G>T (p.Thr5146=)
c.15423G>T (p.Thr5141=)
c.15339G>T (p.Thr5113=)
c.*452G>T (n.*452G>T)
c.8637G>T (p.Thr2879=)
c.8616G>T (p.Thr2872=)
n.15514G>T
 gnomAD v4
5g.90810759A=CA1562911523ADGRV1c.15499A= (p.Thr5167=)
c.4453A= (p.Thr1485=)
n.2766A=
c.265+134550A= (n.265+134550A=)
c.1909A= (p.Thr637=)
c.2482A= (p.Thr828=)
n.15512A=
c.15496A= (p.Thr5166=)
c.15418A= (p.Thr5140=)
c.12802A= (p.Thr4268=)
c.15520A= (p.Thr5174=)
c.15517A= (p.Thr5173=)
c.15439A= (p.Thr5147=)
c.15424A= (p.Thr5142=)
c.15340A= (p.Thr5114=)
c.*453A= (n.*453A=)
c.8638A= (p.Thr2880=)
c.8617A= (p.Thr2873=)
n.15515A=
5g.90810759A>CCA360409803ADGRV1c.15499A>C (p.Thr5167Pro)
c.4453A>C (p.Thr1485Pro)
n.2766A>C
c.265+134550A>C (n.265+134550A>C)
c.1909A>C (p.Thr637Pro)
c.2482A>C (p.Thr828Pro)
n.15512A>C
c.15496A>C (p.Thr5166Pro)
c.15418A>C (p.Thr5140Pro)
c.12802A>C (p.Thr4268Pro)
c.15520A>C (p.Thr5174Pro)
c.15517A>C (p.Thr5173Pro)
c.15439A>C (p.Thr5147Pro)
c.15424A>C (p.Thr5142Pro)
c.15340A>C (p.Thr5114Pro)
c.*453A>C (n.*453A>C)
c.8638A>C (p.Thr2880Pro)
c.8617A>C (p.Thr2873Pro)
n.15515A>C
5g.90810759A>GCA3341933ADGRV1c.15499A>G (p.Thr5167Ala)
c.4453A>G (p.Thr1485Ala)
n.2766A>G
c.265+134550A>G (n.265+134550A>G)
c.1909A>G (p.Thr637Ala)
c.2482A>G (p.Thr828Ala)
n.15512A>G
c.15496A>G (p.Thr5166Ala)
c.15418A>G (p.Thr5140Ala)
c.12802A>G (p.Thr4268Ala)
c.15520A>G (p.Thr5174Ala)
c.15517A>G (p.Thr5173Ala)
c.15439A>G (p.Thr5147Ala)
c.15424A>G (p.Thr5142Ala)
c.15340A>G (p.Thr5114Ala)
c.*453A>G (n.*453A>G)
c.8638A>G (p.Thr2880Ala)
c.8617A>G (p.Thr2873Ala)
n.15515A>G
 dbSNP ExAC gnomAD v2
5g.90810759A>TCA360409810ADGRV1c.15499A>T (p.Thr5167Ser)
c.4453A>T (p.Thr1485Ser)
n.2766A>T
c.265+134550A>T (n.265+134550A>T)
c.1909A>T (p.Thr637Ser)
c.2482A>T (p.Thr828Ser)
n.15512A>T
c.15496A>T (p.Thr5166Ser)
c.15418A>T (p.Thr5140Ser)
c.12802A>T (p.Thr4268Ser)
c.15520A>T (p.Thr5174Ser)
c.15517A>T (p.Thr5173Ser)
c.15439A>T (p.Thr5147Ser)
c.15424A>T (p.Thr5142Ser)
c.15340A>T (p.Thr5114Ser)
c.*453A>T (n.*453A>T)
c.8638A>T (p.Thr2880Ser)
c.8617A>T (p.Thr2873Ser)
n.15515A>T
5g.90810760C>ACA360409814ADGRV1c.15500C>A (p.Thr5167Asn)
c.4454C>A (p.Thr1485Asn)
n.2767C>A
c.265+134551C>A (n.265+134551C>A)
c.1910C>A (p.Thr637Asn)
c.2483C>A (p.Thr828Asn)
n.15513C>A
c.15497C>A (p.Thr5166Asn)
c.15419C>A (p.Thr5140Asn)
c.12803C>A (p.Thr4268Asn)
c.15521C>A (p.Thr5174Asn)
c.15518C>A (p.Thr5173Asn)
c.15440C>A (p.Thr5147Asn)
c.15425C>A (p.Thr5142Asn)
c.15341C>A (p.Thr5114Asn)
c.*454C>A (n.*454C>A)
c.8639C>A (p.Thr2880Asn)
c.8618C>A (p.Thr2873Asn)
n.15516C>A
5g.90810760C>GCA360409815ADGRV1c.15500C>G (p.Thr5167Ser)
c.4454C>G (p.Thr1485Ser)
n.2767C>G
c.265+134551C>G (n.265+134551C>G)
c.1910C>G (p.Thr637Ser)
c.2483C>G (p.Thr828Ser)
n.15513C>G
c.15497C>G (p.Thr5166Ser)
c.15419C>G (p.Thr5140Ser)
c.12803C>G (p.Thr4268Ser)
c.15521C>G (p.Thr5174Ser)
c.15518C>G (p.Thr5173Ser)
c.15440C>G (p.Thr5147Ser)
c.15425C>G (p.Thr5142Ser)
c.15341C>G (p.Thr5114Ser)
c.*454C>G (n.*454C>G)
c.8639C>G (p.Thr2880Ser)
c.8618C>G (p.Thr2873Ser)
n.15516C>G
5g.90810760C>TCA360409811ADGRV1c.15500C>T (p.Thr5167Ile)
c.4454C>T (p.Thr1485Ile)
n.2767C>T
c.265+134551C>T (n.265+134551C>T)
c.1910C>T (p.Thr637Ile)
c.2483C>T (p.Thr828Ile)
n.15513C>T
c.15497C>T (p.Thr5166Ile)
c.15419C>T (p.Thr5140Ile)
c.12803C>T (p.Thr4268Ile)
c.15521C>T (p.Thr5174Ile)
c.15518C>T (p.Thr5173Ile)
c.15440C>T (p.Thr5147Ile)
c.15425C>T (p.Thr5142Ile)
c.15341C>T (p.Thr5114Ile)
c.*454C>T (n.*454C>T)
c.8639C>T (p.Thr2880Ile)
c.8618C>T (p.Thr2873Ile)
n.15516C>T
5g.90810761T>ACA445468446ADGRV1c.15501T>A (p.Thr5167=)
c.4455T>A (p.Thr1485=)
n.2768T>A
c.265+134552T>A (n.265+134552T>A)
c.1911T>A (p.Thr637=)
c.2484T>A (p.Thr828=)
n.15514T>A
c.15498T>A (p.Thr5166=)
c.15420T>A (p.Thr5140=)
c.12804T>A (p.Thr4268=)
c.15522T>A (p.Thr5174=)
c.15519T>A (p.Thr5173=)
c.15441T>A (p.Thr5147=)
c.15426T>A (p.Thr5142=)
c.15342T>A (p.Thr5114=)
c.*455T>A (n.*455T>A)
c.8640T>A (p.Thr2880=)
c.8619T>A (p.Thr2873=)
n.15517T>A
5g.90810761T>CCA445468447ADGRV1c.15501T>C (p.Thr5167=)
c.4455T>C (p.Thr1485=)
n.2768T>C
c.265+134552T>C (n.265+134552T>C)
c.1911T>C (p.Thr637=)
c.2484T>C (p.Thr828=)
n.15514T>C
c.15498T>C (p.Thr5166=)
c.15420T>C (p.Thr5140=)
c.12804T>C (p.Thr4268=)
c.15522T>C (p.Thr5174=)
c.15519T>C (p.Thr5173=)
c.15441T>C (p.Thr5147=)
c.15426T>C (p.Thr5142=)
c.15342T>C (p.Thr5114=)
c.*455T>C (n.*455T>C)
c.8640T>C (p.Thr2880=)
c.8619T>C (p.Thr2873=)
n.15517T>C
5g.90810761T>GCA445468449ADGRV1c.15501T>G (p.Thr5167=)
c.4455T>G (p.Thr1485=)
n.2768T>G
c.265+134552T>G (n.265+134552T>G)
c.1911T>G (p.Thr637=)
c.2484T>G (p.Thr828=)
n.15514T>G
c.15498T>G (p.Thr5166=)
c.15420T>G (p.Thr5140=)
c.12804T>G (p.Thr4268=)
c.15522T>G (p.Thr5174=)
c.15519T>G (p.Thr5173=)
c.15441T>G (p.Thr5147=)
c.15426T>G (p.Thr5142=)
c.15342T>G (p.Thr5114=)
c.*455T>G (n.*455T>G)
c.8640T>G (p.Thr2880=)
c.8619T>G (p.Thr2873=)
n.15517T>G
5g.90810762A>CCA360409818ADGRV1c.15502A>C (p.Thr5168Pro)
c.4456A>C (p.Thr1486Pro)
n.2769A>C
c.265+134553A>C (n.265+134553A>C)
c.1912A>C (p.Thr638Pro)
c.2485A>C (p.Thr829Pro)
n.15515A>C
c.15499A>C (p.Thr5167Pro)
c.15421A>C (p.Thr5141Pro)
c.12805A>C (p.Thr4269Pro)
c.15523A>C (p.Thr5175Pro)
c.15520A>C (p.Thr5174Pro)
c.15442A>C (p.Thr5148Pro)
c.15427A>C (p.Thr5143Pro)
c.15343A>C (p.Thr5115Pro)
c.*456A>C (n.*456A>C)
c.8641A>C (p.Thr2881Pro)
c.8620A>C (p.Thr2874Pro)
n.15518A>C
5g.90810762A>GCA360409820ADGRV1c.15502A>G (p.Thr5168Ala)
c.4456A>G (p.Thr1486Ala)
n.2769A>G
c.265+134553A>G (n.265+134553A>G)
c.1912A>G (p.Thr638Ala)
c.2485A>G (p.Thr829Ala)
n.15515A>G
c.15499A>G (p.Thr5167Ala)
c.15421A>G (p.Thr5141Ala)
c.12805A>G (p.Thr4269Ala)
c.15523A>G (p.Thr5175Ala)
c.15520A>G (p.Thr5174Ala)
c.15442A>G (p.Thr5148Ala)
c.15427A>G (p.Thr5143Ala)
c.15343A>G (p.Thr5115Ala)
c.*456A>G (n.*456A>G)
c.8641A>G (p.Thr2881Ala)
c.8620A>G (p.Thr2874Ala)
n.15518A>G
5g.90810762A>TCA360409821ADGRV1c.15502A>T (p.Thr5168Ser)
c.4456A>T (p.Thr1486Ser)
n.2769A>T
c.265+134553A>T (n.265+134553A>T)
c.1912A>T (p.Thr638Ser)
c.2485A>T (p.Thr829Ser)
n.15515A>T
c.15499A>T (p.Thr5167Ser)
c.15421A>T (p.Thr5141Ser)
c.12805A>T (p.Thr4269Ser)
c.15523A>T (p.Thr5175Ser)
c.15520A>T (p.Thr5174Ser)
c.15442A>T (p.Thr5148Ser)
c.15427A>T (p.Thr5143Ser)
c.15343A>T (p.Thr5115Ser)
c.*456A>T (n.*456A>T)
c.8641A>T (p.Thr2881Ser)
c.8620A>T (p.Thr2874Ser)
n.15518A>T
5g.90810763C>ACA360409822ADGRV1c.15503C>A (p.Thr5168Asn)
c.4457C>A (p.Thr1486Asn)
n.2770C>A
c.265+134554C>A (n.265+134554C>A)
c.1913C>A (p.Thr638Asn)
c.2486C>A (p.Thr829Asn)
n.15516C>A
c.15500C>A (p.Thr5167Asn)
c.15422C>A (p.Thr5141Asn)
c.12806C>A (p.Thr4269Asn)
c.15524C>A (p.Thr5175Asn)
c.15521C>A (p.Thr5174Asn)
c.15443C>A (p.Thr5148Asn)
c.15428C>A (p.Thr5143Asn)
c.15344C>A (p.Thr5115Asn)
c.*457C>A (n.*457C>A)
c.8642C>A (p.Thr2881Asn)
c.8621C>A (p.Thr2874Asn)
n.15519C>A
 gnomAD v4
5g.90810763C>GCA360409823ADGRV1c.15503C>G (p.Thr5168Ser)
c.4457C>G (p.Thr1486Ser)
n.2770C>G
c.265+134554C>G (n.265+134554C>G)
c.1913C>G (p.Thr638Ser)
c.2486C>G (p.Thr829Ser)
n.15516C>G
c.15500C>G (p.Thr5167Ser)
c.15422C>G (p.Thr5141Ser)
c.12806C>G (p.Thr4269Ser)
c.15524C>G (p.Thr5175Ser)
c.15521C>G (p.Thr5174Ser)
c.15443C>G (p.Thr5148Ser)
c.15428C>G (p.Thr5143Ser)
c.15344C>G (p.Thr5115Ser)
c.*457C>G (n.*457C>G)
c.8642C>G (p.Thr2881Ser)
c.8621C>G (p.Thr2874Ser)
n.15519C>G
 gnomAD v4
5g.90810763C>TCA360409824ADGRV1c.15503C>T (p.Thr5168Ile)
c.4457C>T (p.Thr1486Ile)
n.2770C>T
c.265+134554C>T (n.265+134554C>T)
c.1913C>T (p.Thr638Ile)
c.2486C>T (p.Thr829Ile)
n.15516C>T
c.15500C>T (p.Thr5167Ile)
c.15422C>T (p.Thr5141Ile)
c.12806C>T (p.Thr4269Ile)
c.15524C>T (p.Thr5175Ile)
c.15521C>T (p.Thr5174Ile)
c.15443C>T (p.Thr5148Ile)
c.15428C>T (p.Thr5143Ile)
c.15344C>T (p.Thr5115Ile)
c.*457C>T (n.*457C>T)
c.8642C>T (p.Thr2881Ile)
c.8621C>T (p.Thr2874Ile)
n.15519C>T
5g.90810764C>ACA445468454ADGRV1c.15504C>A (p.Thr5168=)
c.4458C>A (p.Thr1486=)
n.2771C>A
c.265+134555C>A (n.265+134555C>A)
c.1914C>A (p.Thr638=)
c.2487C>A (p.Thr829=)
n.15517C>A
c.15501C>A (p.Thr5167=)
c.15423C>A (p.Thr5141=)
c.12807C>A (p.Thr4269=)
c.15525C>A (p.Thr5175=)
c.15522C>A (p.Thr5174=)
c.15444C>A (p.Thr5148=)
c.15429C>A (p.Thr5143=)
c.15345C>A (p.Thr5115=)
c.*458C>A (n.*458C>A)
c.8643C>A (p.Thr2881=)
c.8622C>A (p.Thr2874=)
n.15520C>A
5g.90810764C>GCA445468456ADGRV1c.15504C>G (p.Thr5168=)
c.4458C>G (p.Thr1486=)
n.2771C>G
c.265+134555C>G (n.265+134555C>G)
c.1914C>G (p.Thr638=)
c.2487C>G (p.Thr829=)
n.15517C>G
c.15501C>G (p.Thr5167=)
c.15423C>G (p.Thr5141=)
c.12807C>G (p.Thr4269=)
c.15525C>G (p.Thr5175=)
c.15522C>G (p.Thr5174=)
c.15444C>G (p.Thr5148=)
c.15429C>G (p.Thr5143=)
c.15345C>G (p.Thr5115=)
c.*458C>G (n.*458C>G)
c.8643C>G (p.Thr2881=)
c.8622C>G (p.Thr2874=)
n.15520C>G
5g.90810764C>TCA445468459ADGRV1c.15504C>T (p.Thr5168=)
c.4458C>T (p.Thr1486=)
n.2771C>T
c.265+134555C>T (n.265+134555C>T)
c.1914C>T (p.Thr638=)
c.2487C>T (p.Thr829=)
n.15517C>T
c.15501C>T (p.Thr5167=)
c.15423C>T (p.Thr5141=)
c.12807C>T (p.Thr4269=)
c.15525C>T (p.Thr5175=)
c.15522C>T (p.Thr5174=)
c.15444C>T (p.Thr5148=)
c.15429C>T (p.Thr5143=)
c.15345C>T (p.Thr5115=)
c.*458C>T (n.*458C>T)
c.8643C>T (p.Thr2881=)
c.8622C>T (p.Thr2874=)
n.15520C>T
 dbSNP
5g.90810765A=CA1562911524ADGRV1c.15505A= (p.Ile5169=)
c.4459A= (p.Ile1487=)
n.2772A=
c.265+134556A= (n.265+134556A=)
c.1915A= (p.Ile639=)
c.2488A= (p.Ile830=)
n.15518A=
c.15502A= (p.Ile5168=)
c.15424A= (p.Ile5142=)
c.12808A= (p.Ile4270=)
c.15526A= (p.Ile5176=)
c.15523A= (p.Ile5175=)
c.15445A= (p.Ile5149=)
c.15430A= (p.Ile5144=)
c.15346A= (p.Ile5116=)
c.*459A= (n.*459A=)
c.8644A= (p.Ile2882=)
c.8623A= (p.Ile2875=)
n.15521A=
5g.90810765A>CCA360409825ADGRV1c.15505A>C (p.Ile5169Leu)
c.4459A>C (p.Ile1487Leu)
n.2772A>C
c.265+134556A>C (n.265+134556A>C)
c.1915A>C (p.Ile639Leu)
c.2488A>C (p.Ile830Leu)
n.15518A>C
c.15502A>C (p.Ile5168Leu)
c.15424A>C (p.Ile5142Leu)
c.12808A>C (p.Ile4270Leu)
c.15526A>C (p.Ile5176Leu)
c.15523A>C (p.Ile5175Leu)
c.15445A>C (p.Ile5149Leu)
c.15430A>C (p.Ile5144Leu)
c.15346A>C (p.Ile5116Leu)
c.*459A>C (n.*459A>C)
c.8644A>C (p.Ile2882Leu)
c.8623A>C (p.Ile2875Leu)
n.15521A>C
5g.90810765A>GCA122821802ADGRV1c.15505A>G (p.Ile5169Val)
c.4459A>G (p.Ile1487Val)
n.2772A>G
c.265+134556A>G (n.265+134556A>G)
c.1915A>G (p.Ile639Val)
c.2488A>G (p.Ile830Val)
n.15518A>G
c.15502A>G (p.Ile5168Val)
c.15424A>G (p.Ile5142Val)
c.12808A>G (p.Ile4270Val)
c.15526A>G (p.Ile5176Val)
c.15523A>G (p.Ile5175Val)
c.15445A>G (p.Ile5149Val)
c.15430A>G (p.Ile5144Val)
c.15346A>G (p.Ile5116Val)
c.*459A>G (n.*459A>G)
c.8644A>G (p.Ile2882Val)
c.8623A>G (p.Ile2875Val)
n.15521A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90810765A>TCA3341934ADGRV1c.15505A>T (p.Ile5169Phe)
c.4459A>T (p.Ile1487Phe)
n.2772A>T
c.265+134556A>T (n.265+134556A>T)
c.1915A>T (p.Ile639Phe)
c.2488A>T (p.Ile830Phe)
n.15518A>T
c.15502A>T (p.Ile5168Phe)
c.15424A>T (p.Ile5142Phe)
c.12808A>T (p.Ile4270Phe)
c.15526A>T (p.Ile5176Phe)
c.15523A>T (p.Ile5175Phe)
c.15445A>T (p.Ile5149Phe)
c.15430A>T (p.Ile5144Phe)
c.15346A>T (p.Ile5116Phe)
c.*459A>T (n.*459A>T)
c.8644A>T (p.Ile2882Phe)
c.8623A>T (p.Ile2875Phe)
n.15521A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810766T>ACA360409830ADGRV1c.15506T>A (p.Ile5169Asn)
c.4460T>A (p.Ile1487Asn)
n.2773T>A
c.265+134557T>A (n.265+134557T>A)
c.1916T>A (p.Ile639Asn)
c.2489T>A (p.Ile830Asn)
n.15519T>A
c.15503T>A (p.Ile5168Asn)
c.15425T>A (p.Ile5142Asn)
c.12809T>A (p.Ile4270Asn)
c.15527T>A (p.Ile5176Asn)
c.15524T>A (p.Ile5175Asn)
c.15446T>A (p.Ile5149Asn)
c.15431T>A (p.Ile5144Asn)
c.15347T>A (p.Ile5116Asn)
c.*460T>A (n.*460T>A)
c.8645T>A (p.Ile2882Asn)
c.8624T>A (p.Ile2875Asn)
n.15522T>A
5g.90810766T>CCA360409832ADGRV1c.15506T>C (p.Ile5169Thr)
c.4460T>C (p.Ile1487Thr)
n.2773T>C
c.265+134557T>C (n.265+134557T>C)
c.1916T>C (p.Ile639Thr)
c.2489T>C (p.Ile830Thr)
n.15519T>C
c.15503T>C (p.Ile5168Thr)
c.15425T>C (p.Ile5142Thr)
c.12809T>C (p.Ile4270Thr)
c.15527T>C (p.Ile5176Thr)
c.15524T>C (p.Ile5175Thr)
c.15446T>C (p.Ile5149Thr)
c.15431T>C (p.Ile5144Thr)
c.15347T>C (p.Ile5116Thr)
c.*460T>C (n.*460T>C)
c.8645T>C (p.Ile2882Thr)
c.8624T>C (p.Ile2875Thr)
n.15522T>C
5g.90810766T>GCA360409834ADGRV1c.15506T>G (p.Ile5169Ser)
c.4460T>G (p.Ile1487Ser)
n.2773T>G
c.265+134557T>G (n.265+134557T>G)
c.1916T>G (p.Ile639Ser)
c.2489T>G (p.Ile830Ser)
n.15519T>G
c.15503T>G (p.Ile5168Ser)
c.15425T>G (p.Ile5142Ser)
c.12809T>G (p.Ile4270Ser)
c.15527T>G (p.Ile5176Ser)
c.15524T>G (p.Ile5175Ser)
c.15446T>G (p.Ile5149Ser)
c.15431T>G (p.Ile5144Ser)
c.15347T>G (p.Ile5116Ser)
c.*460T>G (n.*460T>G)
c.8645T>G (p.Ile2882Ser)
c.8624T>G (p.Ile2875Ser)
n.15522T>G
 gnomAD v4
5g.90810767T>ACA445468462ADGRV1c.15507T>A (p.Ile5169=)
c.4461T>A (p.Ile1487=)
n.2774T>A
c.265+134558T>A (n.265+134558T>A)
c.1917T>A (p.Ile639=)
c.2490T>A (p.Ile830=)
n.15520T>A
c.15504T>A (p.Ile5168=)
c.15426T>A (p.Ile5142=)
c.12810T>A (p.Ile4270=)
c.15528T>A (p.Ile5176=)
c.15525T>A (p.Ile5175=)
c.15447T>A (p.Ile5149=)
c.15432T>A (p.Ile5144=)
c.15348T>A (p.Ile5116=)
c.*461T>A (n.*461T>A)
c.8646T>A (p.Ile2882=)
c.8625T>A (p.Ile2875=)
n.15523T>A
5g.90810767T>CCA445468463ADGRV1c.15507T>C (p.Ile5169=)
c.4461T>C (p.Ile1487=)
n.2774T>C
c.265+134558T>C (n.265+134558T>C)
c.1917T>C (p.Ile639=)
c.2490T>C (p.Ile830=)
n.15520T>C
c.15504T>C (p.Ile5168=)
c.15426T>C (p.Ile5142=)
c.12810T>C (p.Ile4270=)
c.15528T>C (p.Ile5176=)
c.15525T>C (p.Ile5175=)
c.15447T>C (p.Ile5149=)
c.15432T>C (p.Ile5144=)
c.15348T>C (p.Ile5116=)
c.*461T>C (n.*461T>C)
c.8646T>C (p.Ile2882=)
c.8625T>C (p.Ile2875=)
n.15523T>C
5g.90810767T>GCA360409835ADGRV1c.15507T>G (p.Ile5169Met)
c.4461T>G (p.Ile1487Met)
n.2774T>G
c.265+134558T>G (n.265+134558T>G)
c.1917T>G (p.Ile639Met)
c.2490T>G (p.Ile830Met)
n.15520T>G
c.15504T>G (p.Ile5168Met)
c.15426T>G (p.Ile5142Met)
c.12810T>G (p.Ile4270Met)
c.15528T>G (p.Ile5176Met)
c.15525T>G (p.Ile5175Met)
c.15447T>G (p.Ile5149Met)
c.15432T>G (p.Ile5144Met)
c.15348T>G (p.Ile5116Met)
c.*461T>G (n.*461T>G)
c.8646T>G (p.Ile2882Met)
c.8625T>G (p.Ile2875Met)
n.15523T>G
5g.90810768C>ACA360409837ADGRV1c.15508C>A (p.Leu5170Met)
c.4462C>A (p.Leu1488Met)
n.2775C>A
c.265+134559C>A (n.265+134559C>A)
c.1918C>A (p.Leu640Met)
c.2491C>A (p.Leu831Met)
n.15521C>A
c.15505C>A (p.Leu5169Met)
c.15427C>A (p.Leu5143Met)
c.12811C>A (p.Leu4271Met)
c.15529C>A (p.Leu5177Met)
c.15526C>A (p.Leu5176Met)
c.15448C>A (p.Leu5150Met)
c.15433C>A (p.Leu5145Met)
c.15349C>A (p.Leu5117Met)
c.*462C>A (n.*462C>A)
c.8647C>A (p.Leu2883Met)
c.8626C>A (p.Leu2876Met)
n.15524C>A
 ClinVar dbSNP
5g.90810768C=CA1562911525ADGRV1c.15508C= (p.Leu5170=)
c.4462C= (p.Leu1488=)
n.2775C=
c.265+134559C= (n.265+134559C=)
c.1918C= (p.Leu640=)
c.2491C= (p.Leu831=)
n.15521C=
c.15505C= (p.Leu5169=)
c.15427C= (p.Leu5143=)
c.12811C= (p.Leu4271=)
c.15529C= (p.Leu5177=)
c.15526C= (p.Leu5176=)
c.15448C= (p.Leu5150=)
c.15433C= (p.Leu5145=)
c.15349C= (p.Leu5117=)
c.*462C= (n.*462C=)
c.8647C= (p.Leu2883=)
c.8626C= (p.Leu2876=)
n.15524C=
5g.90810768C>GCA360409839ADGRV1c.15508C>G (p.Leu5170Val)
c.4462C>G (p.Leu1488Val)
n.2775C>G
c.265+134559C>G (n.265+134559C>G)
c.1918C>G (p.Leu640Val)
c.2491C>G (p.Leu831Val)
n.15521C>G
c.15505C>G (p.Leu5169Val)
c.15427C>G (p.Leu5143Val)
c.12811C>G (p.Leu4271Val)
c.15529C>G (p.Leu5177Val)
c.15526C>G (p.Leu5176Val)
c.15448C>G (p.Leu5150Val)
c.15433C>G (p.Leu5145Val)
c.15349C>G (p.Leu5117Val)
c.*462C>G (n.*462C>G)
c.8647C>G (p.Leu2883Val)
c.8626C>G (p.Leu2876Val)
n.15524C>G
5g.90810768C>TCA3341935ADGRV1c.15508C>T (p.Leu5170=)
c.4462C>T (p.Leu1488=)
n.2775C>T
c.265+134559C>T (n.265+134559C>T)
c.1918C>T (p.Leu640=)
c.2491C>T (p.Leu831=)
n.15521C>T
c.15505C>T (p.Leu5169=)
c.15427C>T (p.Leu5143=)
c.12811C>T (p.Leu4271=)
c.15529C>T (p.Leu5177=)
c.15526C>T (p.Leu5176=)
c.15448C>T (p.Leu5150=)
c.15433C>T (p.Leu5145=)
c.15349C>T (p.Leu5117=)
c.*462C>T (n.*462C>T)
c.8647C>T (p.Leu2883=)
c.8626C>T (p.Leu2876=)
n.15524C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810769T>ACA360409841ADGRV1c.15509T>A (p.Leu5170Gln)
c.4463T>A (p.Leu1488Gln)
n.2776T>A
c.265+134560T>A (n.265+134560T>A)
c.1919T>A (p.Leu640Gln)
c.2492T>A (p.Leu831Gln)
n.15522T>A
c.15506T>A (p.Leu5169Gln)
c.15428T>A (p.Leu5143Gln)
c.12812T>A (p.Leu4271Gln)
c.15530T>A (p.Leu5177Gln)
c.15527T>A (p.Leu5176Gln)
c.15449T>A (p.Leu5150Gln)
c.15434T>A (p.Leu5145Gln)
c.15350T>A (p.Leu5117Gln)
c.*463T>A (n.*463T>A)
c.8648T>A (p.Leu2883Gln)
c.8627T>A (p.Leu2876Gln)
n.15525T>A
5g.90810769T>CCA360409843ADGRV1c.15509T>C (p.Leu5170Pro)
c.4463T>C (p.Leu1488Pro)
n.2776T>C
c.265+134560T>C (n.265+134560T>C)
c.1919T>C (p.Leu640Pro)
c.2492T>C (p.Leu831Pro)
n.15522T>C
c.15506T>C (p.Leu5169Pro)
c.15428T>C (p.Leu5143Pro)
c.12812T>C (p.Leu4271Pro)
c.15530T>C (p.Leu5177Pro)
c.15527T>C (p.Leu5176Pro)
c.15449T>C (p.Leu5150Pro)
c.15434T>C (p.Leu5145Pro)
c.15350T>C (p.Leu5117Pro)
c.*463T>C (n.*463T>C)
c.8648T>C (p.Leu2883Pro)
c.8627T>C (p.Leu2876Pro)
n.15525T>C
5g.90810769T>GCA360409845ADGRV1c.15509T>G (p.Leu5170Arg)
c.4463T>G (p.Leu1488Arg)
n.2776T>G
c.265+134560T>G (n.265+134560T>G)
c.1919T>G (p.Leu640Arg)
c.2492T>G (p.Leu831Arg)
n.15522T>G
c.15506T>G (p.Leu5169Arg)
c.15428T>G (p.Leu5143Arg)
c.12812T>G (p.Leu4271Arg)
c.15530T>G (p.Leu5177Arg)
c.15527T>G (p.Leu5176Arg)
c.15449T>G (p.Leu5150Arg)
c.15434T>G (p.Leu5145Arg)
c.15350T>G (p.Leu5117Arg)
c.*463T>G (n.*463T>G)
c.8648T>G (p.Leu2883Arg)
c.8627T>G (p.Leu2876Arg)
n.15525T>G
5g.90810770G>ACA445468469ADGRV1c.15510G>A (p.Leu5170=)
c.4464G>A (p.Leu1488=)
n.2777G>A
c.265+134561G>A (n.265+134561G>A)
c.1920G>A (p.Leu640=)
c.2493G>A (p.Leu831=)
n.15523G>A
c.15507G>A (p.Leu5169=)
c.15429G>A (p.Leu5143=)
c.12813G>A (p.Leu4271=)
c.15531G>A (p.Leu5177=)
c.15528G>A (p.Leu5176=)
c.15450G>A (p.Leu5150=)
c.15435G>A (p.Leu5145=)
c.15351G>A (p.Leu5117=)
c.*464G>A (n.*464G>A)
c.8649G>A (p.Leu2883=)
c.8628G>A (p.Leu2876=)
n.15526G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90810770G>CCA445468470ADGRV1c.15510G>C (p.Leu5170=)
c.4464G>C (p.Leu1488=)
n.2777G>C
c.265+134561G>C (n.265+134561G>C)
c.1920G>C (p.Leu640=)
c.2493G>C (p.Leu831=)
n.15523G>C
c.15507G>C (p.Leu5169=)
c.15429G>C (p.Leu5143=)
c.12813G>C (p.Leu4271=)
c.15531G>C (p.Leu5177=)
c.15528G>C (p.Leu5176=)
c.15450G>C (p.Leu5150=)
c.15435G>C (p.Leu5145=)
c.15351G>C (p.Leu5117=)
c.*464G>C (n.*464G>C)
c.8649G>C (p.Leu2883=)
c.8628G>C (p.Leu2876=)
n.15526G>C
 ClinVar
5g.90810770G=CA1562911526ADGRV1c.15510G= (p.Leu5170=)
c.4464G= (p.Leu1488=)
n.2777G=
c.265+134561G= (n.265+134561G=)
c.1920G= (p.Leu640=)
c.2493G= (p.Leu831=)
n.15523G=
c.15507G= (p.Leu5169=)
c.15429G= (p.Leu5143=)
c.12813G= (p.Leu4271=)
c.15531G= (p.Leu5177=)
c.15528G= (p.Leu5176=)
c.15450G= (p.Leu5150=)
c.15435G= (p.Leu5145=)
c.15351G= (p.Leu5117=)
c.*464G= (n.*464G=)
c.8649G= (p.Leu2883=)
c.8628G= (p.Leu2876=)
n.15526G=
5g.90810770G>TCA445468474ADGRV1c.15510G>T (p.Leu5170=)
c.4464G>T (p.Leu1488=)
n.2777G>T
c.265+134561G>T (n.265+134561G>T)
c.1920G>T (p.Leu640=)
c.2493G>T (p.Leu831=)
n.15523G>T
c.15507G>T (p.Leu5169=)
c.15429G>T (p.Leu5143=)
c.12813G>T (p.Leu4271=)
c.15531G>T (p.Leu5177=)
c.15528G>T (p.Leu5176=)
c.15450G>T (p.Leu5150=)
c.15435G>T (p.Leu5145=)
c.15351G>T (p.Leu5117=)
c.*464G>T (n.*464G>T)
c.8649G>T (p.Leu2883=)
c.8628G>T (p.Leu2876=)
n.15526G>T
5g.90810771C>ACA360409846ADGRV1c.15511C>A (p.Gln5171Lys)
c.4465C>A (p.Gln1489Lys)
n.2778C>A
c.265+134562C>A (n.265+134562C>A)
c.1921C>A (p.Gln641Lys)
c.2494C>A (p.Gln832Lys)
n.15524C>A
c.15508C>A (p.Gln5170Lys)
c.15430C>A (p.Gln5144Lys)
c.12814C>A (p.Gln4272Lys)
c.15532C>A (p.Gln5178Lys)
c.15529C>A (p.Gln5177Lys)
c.15451C>A (p.Gln5151Lys)
c.15436C>A (p.Gln5146Lys)
c.15352C>A (p.Gln5118Lys)
c.*465C>A (n.*465C>A)
c.8650C>A (p.Gln2884Lys)
c.8629C>A (p.Gln2877Lys)
n.15527C>A
5g.90810771C>GCA360409847ADGRV1c.15511C>G (p.Gln5171Glu)
c.4465C>G (p.Gln1489Glu)
n.2778C>G
c.265+134562C>G (n.265+134562C>G)
c.1921C>G (p.Gln641Glu)
c.2494C>G (p.Gln832Glu)
n.15524C>G
c.15508C>G (p.Gln5170Glu)
c.15430C>G (p.Gln5144Glu)
c.12814C>G (p.Gln4272Glu)
c.15532C>G (p.Gln5178Glu)
c.15529C>G (p.Gln5177Glu)
c.15451C>G (p.Gln5151Glu)
c.15436C>G (p.Gln5146Glu)
c.15352C>G (p.Gln5118Glu)
c.*465C>G (n.*465C>G)
c.8650C>G (p.Gln2884Glu)
c.8629C>G (p.Gln2877Glu)
n.15527C>G
5g.90810771C>TCA360409849ADGRV1c.15511C>T (p.Gln5171Ter)
c.4465C>T (p.Gln1489Ter)
n.2778C>T
c.265+134562C>T (n.265+134562C>T)
c.1921C>T (p.Gln641Ter)
c.2494C>T (p.Gln832Ter)
n.15524C>T
c.15508C>T (p.Gln5170Ter)
c.15430C>T (p.Gln5144Ter)
c.12814C>T (p.Gln4272Ter)
c.15532C>T (p.Gln5178Ter)
c.15529C>T (p.Gln5177Ter)
c.15451C>T (p.Gln5151Ter)
c.15436C>T (p.Gln5146Ter)
c.15352C>T (p.Gln5118Ter)
c.*465C>T (n.*465C>T)
c.8650C>T (p.Gln2884Ter)
c.8629C>T (p.Gln2877Ter)
n.15527C>T
5g.90810772A>CCA360409854ADGRV1c.15512A>C (p.Gln5171Pro)
c.4466A>C (p.Gln1489Pro)
n.2779A>C
c.265+134563A>C (n.265+134563A>C)
c.1922A>C (p.Gln641Pro)
c.2495A>C (p.Gln832Pro)
n.15525A>C
c.15509A>C (p.Gln5170Pro)
c.15431A>C (p.Gln5144Pro)
c.12815A>C (p.Gln4272Pro)
c.15533A>C (p.Gln5178Pro)
c.15530A>C (p.Gln5177Pro)
c.15452A>C (p.Gln5151Pro)
c.15437A>C (p.Gln5146Pro)
c.15353A>C (p.Gln5118Pro)
c.*466A>C (n.*466A>C)
c.8651A>C (p.Gln2884Pro)
c.8630A>C (p.Gln2877Pro)
n.15528A>C
5g.90810772A>GCA360409851ADGRV1c.15512A>G (p.Gln5171Arg)
c.4466A>G (p.Gln1489Arg)
n.2779A>G
c.265+134563A>G (n.265+134563A>G)
c.1922A>G (p.Gln641Arg)
c.2495A>G (p.Gln832Arg)
n.15525A>G
c.15509A>G (p.Gln5170Arg)
c.15431A>G (p.Gln5144Arg)
c.12815A>G (p.Gln4272Arg)
c.15533A>G (p.Gln5178Arg)
c.15530A>G (p.Gln5177Arg)
c.15452A>G (p.Gln5151Arg)
c.15437A>G (p.Gln5146Arg)
c.15353A>G (p.Gln5118Arg)
c.*466A>G (n.*466A>G)
c.8651A>G (p.Gln2884Arg)
c.8630A>G (p.Gln2877Arg)
n.15528A>G
5g.90810772A>TCA360409852ADGRV1c.15512A>T (p.Gln5171Leu)
c.4466A>T (p.Gln1489Leu)
n.2779A>T
c.265+134563A>T (n.265+134563A>T)
c.1922A>T (p.Gln641Leu)
c.2495A>T (p.Gln832Leu)
n.15525A>T
c.15509A>T (p.Gln5170Leu)
c.15431A>T (p.Gln5144Leu)
c.12815A>T (p.Gln4272Leu)
c.15533A>T (p.Gln5178Leu)
c.15530A>T (p.Gln5177Leu)
c.15452A>T (p.Gln5151Leu)
c.15437A>T (p.Gln5146Leu)
c.15353A>T (p.Gln5118Leu)
c.*466A>T (n.*466A>T)
c.8651A>T (p.Gln2884Leu)
c.8630A>T (p.Gln2877Leu)
n.15528A>T
5g.90810773G>ACA445468484ADGRV1c.15513G>A (p.Gln5171=)
c.4467G>A (p.Gln1489=)
n.2780G>A
c.265+134564G>A (n.265+134564G>A)
c.1923G>A (p.Gln641=)
c.2496G>A (p.Gln832=)
n.15526G>A
c.15510G>A (p.Gln5170=)
c.15432G>A (p.Gln5144=)
c.12816G>A (p.Gln4272=)
c.15534G>A (p.Gln5178=)
c.15531G>A (p.Gln5177=)
c.15453G>A (p.Gln5151=)
c.15438G>A (p.Gln5146=)
c.15354G>A (p.Gln5118=)
c.*467G>A (n.*467G>A)
c.8652G>A (p.Gln2884=)
c.8631G>A (p.Gln2877=)
n.15529G>A
 gnomAD v4
5g.90810773G>CCA360409856ADGRV1c.15513G>C (p.Gln5171His)
c.4467G>C (p.Gln1489His)
n.2780G>C
c.265+134564G>C (n.265+134564G>C)
c.1923G>C (p.Gln641His)
c.2496G>C (p.Gln832His)
n.15526G>C
c.15510G>C (p.Gln5170His)
c.15432G>C (p.Gln5144His)
c.12816G>C (p.Gln4272His)
c.15534G>C (p.Gln5178His)
c.15531G>C (p.Gln5177His)
c.15453G>C (p.Gln5151His)
c.15438G>C (p.Gln5146His)
c.15354G>C (p.Gln5118His)
c.*467G>C (n.*467G>C)
c.8652G>C (p.Gln2884His)
c.8631G>C (p.Gln2877His)
n.15529G>C
5g.90810773G>TCA360409859ADGRV1c.15513G>T (p.Gln5171His)
c.4467G>T (p.Gln1489His)
n.2780G>T
c.265+134564G>T (n.265+134564G>T)
c.1923G>T (p.Gln641His)
c.2496G>T (p.Gln832His)
n.15526G>T
c.15510G>T (p.Gln5170His)
c.15432G>T (p.Gln5144His)
c.12816G>T (p.Gln4272His)
c.15534G>T (p.Gln5178His)
c.15531G>T (p.Gln5177His)
c.15453G>T (p.Gln5151His)
c.15438G>T (p.Gln5146His)
c.15354G>T (p.Gln5118His)
c.*467G>T (n.*467G>T)
c.8652G>T (p.Gln2884His)
c.8631G>T (p.Gln2877His)
n.15529G>T
5g.90810774C>ACA360409861ADGRV1c.15514C>A (p.Pro5172Thr)
c.4468C>A (p.Pro1490Thr)
n.2781C>A
c.265+134565C>A (n.265+134565C>A)
c.1924C>A (p.Pro642Thr)
c.2497C>A (p.Pro833Thr)
n.15527C>A
c.15511C>A (p.Pro5171Thr)
c.15433C>A (p.Pro5145Thr)
c.12817C>A (p.Pro4273Thr)
c.15535C>A (p.Pro5179Thr)
c.15532C>A (p.Pro5178Thr)
c.15454C>A (p.Pro5152Thr)
c.15439C>A (p.Pro5147Thr)
c.15355C>A (p.Pro5119Thr)
c.*468C>A (n.*468C>A)
c.8653C>A (p.Pro2885Thr)
c.8632C>A (p.Pro2878Thr)
n.15530C>A
5g.90810774C>GCA360409862ADGRV1c.15514C>G (p.Pro5172Ala)
c.4468C>G (p.Pro1490Ala)
n.2781C>G
c.265+134565C>G (n.265+134565C>G)
c.1924C>G (p.Pro642Ala)
c.2497C>G (p.Pro833Ala)
n.15527C>G
c.15511C>G (p.Pro5171Ala)
c.15433C>G (p.Pro5145Ala)
c.12817C>G (p.Pro4273Ala)
c.15535C>G (p.Pro5179Ala)
c.15532C>G (p.Pro5178Ala)
c.15454C>G (p.Pro5152Ala)
c.15439C>G (p.Pro5147Ala)
c.15355C>G (p.Pro5119Ala)
c.*468C>G (n.*468C>G)
c.8653C>G (p.Pro2885Ala)
c.8632C>G (p.Pro2878Ala)
n.15530C>G
5g.90810774C>TCA360409864ADGRV1c.15514C>T (p.Pro5172Ser)
c.4468C>T (p.Pro1490Ser)
n.2781C>T
c.265+134565C>T (n.265+134565C>T)
c.1924C>T (p.Pro642Ser)
c.2497C>T (p.Pro833Ser)
n.15527C>T
c.15511C>T (p.Pro5171Ser)
c.15433C>T (p.Pro5145Ser)
c.12817C>T (p.Pro4273Ser)
c.15535C>T (p.Pro5179Ser)
c.15532C>T (p.Pro5178Ser)
c.15454C>T (p.Pro5152Ser)
c.15439C>T (p.Pro5147Ser)
c.15355C>T (p.Pro5119Ser)
c.*468C>T (n.*468C>T)
c.8653C>T (p.Pro2885Ser)
c.8632C>T (p.Pro2878Ser)
n.15530C>T
5g.90810775C>ACA360409866ADGRV1c.15515C>A (p.Pro5172Gln)
c.4469C>A (p.Pro1490Gln)
n.2782C>A
c.265+134566C>A (n.265+134566C>A)
c.1925C>A (p.Pro642Gln)
c.2498C>A (p.Pro833Gln)
n.15528C>A
c.15512C>A (p.Pro5171Gln)
c.15434C>A (p.Pro5145Gln)
c.12818C>A (p.Pro4273Gln)
c.15536C>A (p.Pro5179Gln)
c.15533C>A (p.Pro5178Gln)
c.15455C>A (p.Pro5152Gln)
c.15440C>A (p.Pro5147Gln)
c.15356C>A (p.Pro5119Gln)
c.*469C>A (n.*469C>A)
c.8654C>A (p.Pro2885Gln)
c.8633C>A (p.Pro2878Gln)
n.15531C>A
5g.90810775C>GCA360409870ADGRV1c.15515C>G (p.Pro5172Arg)
c.4469C>G (p.Pro1490Arg)
n.2782C>G
c.265+134566C>G (n.265+134566C>G)
c.1925C>G (p.Pro642Arg)
c.2498C>G (p.Pro833Arg)
n.15528C>G
c.15512C>G (p.Pro5171Arg)
c.15434C>G (p.Pro5145Arg)
c.12818C>G (p.Pro4273Arg)
c.15536C>G (p.Pro5179Arg)
c.15533C>G (p.Pro5178Arg)
c.15455C>G (p.Pro5152Arg)
c.15440C>G (p.Pro5147Arg)
c.15356C>G (p.Pro5119Arg)
c.*469C>G (n.*469C>G)
c.8654C>G (p.Pro2885Arg)
c.8633C>G (p.Pro2878Arg)
n.15531C>G
5g.90810775C>TCA360409868ADGRV1c.15515C>T (p.Pro5172Leu)
c.4469C>T (p.Pro1490Leu)
n.2782C>T
c.265+134566C>T (n.265+134566C>T)
c.1925C>T (p.Pro642Leu)
c.2498C>T (p.Pro833Leu)
n.15528C>T
c.15512C>T (p.Pro5171Leu)
c.15434C>T (p.Pro5145Leu)
c.12818C>T (p.Pro4273Leu)
c.15536C>T (p.Pro5179Leu)
c.15533C>T (p.Pro5178Leu)
c.15455C>T (p.Pro5152Leu)
c.15440C>T (p.Pro5147Leu)
c.15356C>T (p.Pro5119Leu)
c.*469C>T (n.*469C>T)
c.8654C>T (p.Pro2885Leu)
c.8633C>T (p.Pro2878Leu)
n.15531C>T
5g.90810776A>CCA445468495ADGRV1c.15516A>C (p.Pro5172=)
c.4470A>C (p.Pro1490=)
n.2783A>C
c.265+134567A>C (n.265+134567A>C)
c.1926A>C (p.Pro642=)
c.2499A>C (p.Pro833=)
n.15529A>C
c.15513A>C (p.Pro5171=)
c.15435A>C (p.Pro5145=)
c.12819A>C (p.Pro4273=)
c.15537A>C (p.Pro5179=)
c.15534A>C (p.Pro5178=)
c.15456A>C (p.Pro5152=)
c.15441A>C (p.Pro5147=)
c.15357A>C (p.Pro5119=)
c.*470A>C (n.*470A>C)
c.8655A>C (p.Pro2885=)
c.8634A>C (p.Pro2878=)
n.15532A>C
5g.90810776A>GCA445468499ADGRV1c.15516A>G (p.Pro5172=)
c.4470A>G (p.Pro1490=)
n.2783A>G
c.265+134567A>G (n.265+134567A>G)
c.1926A>G (p.Pro642=)
c.2499A>G (p.Pro833=)
n.15529A>G
c.15513A>G (p.Pro5171=)
c.15435A>G (p.Pro5145=)
c.12819A>G (p.Pro4273=)
c.15537A>G (p.Pro5179=)
c.15534A>G (p.Pro5178=)
c.15456A>G (p.Pro5152=)
c.15441A>G (p.Pro5147=)
c.15357A>G (p.Pro5119=)
c.*470A>G (n.*470A>G)
c.8655A>G (p.Pro2885=)
c.8634A>G (p.Pro2878=)
n.15532A>G
5g.90810776A>TCA445468497ADGRV1c.15516A>T (p.Pro5172=)
c.4470A>T (p.Pro1490=)
n.2783A>T
c.265+134567A>T (n.265+134567A>T)
c.1926A>T (p.Pro642=)
c.2499A>T (p.Pro833=)
n.15529A>T
c.15513A>T (p.Pro5171=)
c.15435A>T (p.Pro5145=)
c.12819A>T (p.Pro4273=)
c.15537A>T (p.Pro5179=)
c.15534A>T (p.Pro5178=)
c.15456A>T (p.Pro5152=)
c.15441A>T (p.Pro5147=)
c.15357A>T (p.Pro5119=)
c.*470A>T (n.*470A>T)
c.8655A>T (p.Pro2885=)
c.8634A>T (p.Pro2878=)
n.15532A>T
5g.90810777A=CA1562911527ADGRV1c.15517A= (p.Thr5173=)
c.4471A= (p.Thr1491=)
n.2784A=
c.265+134568A= (n.265+134568A=)
c.1927A= (p.Thr643=)
c.2500A= (p.Thr834=)
n.15530A=
c.15514A= (p.Thr5172=)
c.15436A= (p.Thr5146=)
c.12820A= (p.Thr4274=)
c.15538A= (p.Thr5180=)
c.15535A= (p.Thr5179=)
c.15457A= (p.Thr5153=)
c.15442A= (p.Thr5148=)
c.15358A= (p.Thr5120=)
c.*471A= (n.*471A=)
c.8656A= (p.Thr2886=)
c.8635A= (p.Thr2879=)
n.15533A=
5g.90810777A>CCA360409871ADGRV1c.15517A>C (p.Thr5173Pro)
c.4471A>C (p.Thr1491Pro)
n.2784A>C
c.265+134568A>C (n.265+134568A>C)
c.1927A>C (p.Thr643Pro)
c.2500A>C (p.Thr834Pro)
n.15530A>C
c.15514A>C (p.Thr5172Pro)
c.15436A>C (p.Thr5146Pro)
c.12820A>C (p.Thr4274Pro)
c.15538A>C (p.Thr5180Pro)
c.15535A>C (p.Thr5179Pro)
c.15457A>C (p.Thr5153Pro)
c.15442A>C (p.Thr5148Pro)
c.15358A>C (p.Thr5120Pro)
c.*471A>C (n.*471A>C)
c.8656A>C (p.Thr2886Pro)
c.8635A>C (p.Thr2879Pro)
n.15533A>C
5g.90810777A>GCA3341936ADGRV1c.15517A>G (p.Thr5173Ala)
c.4471A>G (p.Thr1491Ala)
n.2784A>G
c.265+134568A>G (n.265+134568A>G)
c.1927A>G (p.Thr643Ala)
c.2500A>G (p.Thr834Ala)
n.15530A>G
c.15514A>G (p.Thr5172Ala)
c.15436A>G (p.Thr5146Ala)
c.12820A>G (p.Thr4274Ala)
c.15538A>G (p.Thr5180Ala)
c.15535A>G (p.Thr5179Ala)
c.15457A>G (p.Thr5153Ala)
c.15442A>G (p.Thr5148Ala)
c.15358A>G (p.Thr5120Ala)
c.*471A>G (n.*471A>G)
c.8656A>G (p.Thr2886Ala)
c.8635A>G (p.Thr2879Ala)
n.15533A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810777A>TCA360409872ADGRV1c.15517A>T (p.Thr5173Ser)
c.4471A>T (p.Thr1491Ser)
n.2784A>T
c.265+134568A>T (n.265+134568A>T)
c.1927A>T (p.Thr643Ser)
c.2500A>T (p.Thr834Ser)
n.15530A>T
c.15514A>T (p.Thr5172Ser)
c.15436A>T (p.Thr5146Ser)
c.12820A>T (p.Thr4274Ser)
c.15538A>T (p.Thr5180Ser)
c.15535A>T (p.Thr5179Ser)
c.15457A>T (p.Thr5153Ser)
c.15442A>T (p.Thr5148Ser)
c.15358A>T (p.Thr5120Ser)
c.*471A>T (n.*471A>T)
c.8656A>T (p.Thr2886Ser)
c.8635A>T (p.Thr2879Ser)
n.15533A>T
5g.90810777_90810784dupCA2674577084ADGRV1c.15517_15524dup (p.Val5176ProfsTer?)
c.4471_4478dup (p.Val1494ProfsTer?)
n.2784_2791dup
c.265+134568_265+134575dup (n.265+134568_265+134575dup)
c.1927_1934dup (p.Val646ProfsTer?)
c.2500_2507dup (p.Val837ProfsTer?)
n.15530_15537dup
c.15514_15521dup (p.Val5175ProfsTer?)
c.15436_15443dup (p.Val5149ProfsTer?)
c.12820_12827dup (p.Val4277ProfsTer?)
c.15538_15545dup (p.Val5183ProfsTer?)
c.15535_15542dup (p.Val5182ProfsTer?)
c.15457_15464dup (p.Val5156ProfsTer?)
c.15442_15449dup (p.Val5151ProfsTer?)
c.15358_15365dup (p.Val5123ProfsTer?)
c.*471_*478dup (n.*471_*478dup)
c.8656_8663dup (p.Val2889ProfsTer?)
c.8635_8642dup (p.Val2882ProfsTer?)
n.15533_15540dup
 gnomAD v4
5g.90810778C>ACA360409874ADGRV1c.15518C>A (p.Thr5173Asn)
c.4472C>A (p.Thr1491Asn)
n.2785C>A
c.265+134569C>A (n.265+134569C>A)
c.1928C>A (p.Thr643Asn)
c.2501C>A (p.Thr834Asn)
n.15531C>A
c.15515C>A (p.Thr5172Asn)
c.15437C>A (p.Thr5146Asn)
c.12821C>A (p.Thr4274Asn)
c.15539C>A (p.Thr5180Asn)
c.15536C>A (p.Thr5179Asn)
c.15458C>A (p.Thr5153Asn)
c.15443C>A (p.Thr5148Asn)
c.15359C>A (p.Thr5120Asn)
c.*472C>A (n.*472C>A)
c.8657C>A (p.Thr2886Asn)
c.8636C>A (p.Thr2879Asn)
n.15534C>A
5g.90810778C>GCA360409877ADGRV1c.15518C>G (p.Thr5173Ser)
c.4472C>G (p.Thr1491Ser)
n.2785C>G
c.265+134569C>G (n.265+134569C>G)
c.1928C>G (p.Thr643Ser)
c.2501C>G (p.Thr834Ser)
n.15531C>G
c.15515C>G (p.Thr5172Ser)
c.15437C>G (p.Thr5146Ser)
c.12821C>G (p.Thr4274Ser)
c.15539C>G (p.Thr5180Ser)
c.15536C>G (p.Thr5179Ser)
c.15458C>G (p.Thr5153Ser)
c.15443C>G (p.Thr5148Ser)
c.15359C>G (p.Thr5120Ser)
c.*472C>G (n.*472C>G)
c.8657C>G (p.Thr2886Ser)
c.8636C>G (p.Thr2879Ser)
n.15534C>G
5g.90810778C>TCA360409876ADGRV1c.15518C>T (p.Thr5173Ile)
c.4472C>T (p.Thr1491Ile)
n.2785C>T
c.265+134569C>T (n.265+134569C>T)
c.1928C>T (p.Thr643Ile)
c.2501C>T (p.Thr834Ile)
n.15531C>T
c.15515C>T (p.Thr5172Ile)
c.15437C>T (p.Thr5146Ile)
c.12821C>T (p.Thr4274Ile)
c.15539C>T (p.Thr5180Ile)
c.15536C>T (p.Thr5179Ile)
c.15458C>T (p.Thr5153Ile)
c.15443C>T (p.Thr5148Ile)
c.15359C>T (p.Thr5120Ile)
c.*472C>T (n.*472C>T)
c.8657C>T (p.Thr2886Ile)
c.8636C>T (p.Thr2879Ile)
n.15534C>T
 gnomAD v4
5g.90810779C>ACA445468516ADGRV1c.15519C>A (p.Thr5173=)
c.4473C>A (p.Thr1491=)
n.2786C>A
c.265+134570C>A (n.265+134570C>A)
c.1929C>A (p.Thr643=)
c.2502C>A (p.Thr834=)
n.15532C>A
c.15516C>A (p.Thr5172=)
c.15438C>A (p.Thr5146=)
c.12822C>A (p.Thr4274=)
c.15540C>A (p.Thr5180=)
c.15537C>A (p.Thr5179=)
c.15459C>A (p.Thr5153=)
c.15444C>A (p.Thr5148=)
c.15360C>A (p.Thr5120=)
c.*473C>A (n.*473C>A)
c.8658C>A (p.Thr2886=)
c.8637C>A (p.Thr2879=)
n.15535C>A
5g.90810779C=CA1562911528ADGRV1c.15519C= (p.Thr5173=)
c.4473C= (p.Thr1491=)
n.2786C=
c.265+134570C= (n.265+134570C=)
c.1929C= (p.Thr643=)
c.2502C= (p.Thr834=)
n.15532C=
c.15516C= (p.Thr5172=)
c.15438C= (p.Thr5146=)
c.12822C= (p.Thr4274=)
c.15540C= (p.Thr5180=)
c.15537C= (p.Thr5179=)
c.15459C= (p.Thr5153=)
c.15444C= (p.Thr5148=)
c.15360C= (p.Thr5120=)
c.*473C= (n.*473C=)
c.8658C= (p.Thr2886=)
c.8637C= (p.Thr2879=)
n.15535C=
5g.90810779C>GCA445468517ADGRV1c.15519C>G (p.Thr5173=)
c.4473C>G (p.Thr1491=)
n.2786C>G
c.265+134570C>G (n.265+134570C>G)
c.1929C>G (p.Thr643=)
c.2502C>G (p.Thr834=)
n.15532C>G
c.15516C>G (p.Thr5172=)
c.15438C>G (p.Thr5146=)
c.12822C>G (p.Thr4274=)
c.15540C>G (p.Thr5180=)
c.15537C>G (p.Thr5179=)
c.15459C>G (p.Thr5153=)
c.15444C>G (p.Thr5148=)
c.15360C>G (p.Thr5120=)
c.*473C>G (n.*473C>G)
c.8658C>G (p.Thr2886=)
c.8637C>G (p.Thr2879=)
n.15535C>G
5g.90810779C>TCA445468518ADGRV1c.15519C>T (p.Thr5173=)
c.4473C>T (p.Thr1491=)
n.2786C>T
c.265+134570C>T (n.265+134570C>T)
c.1929C>T (p.Thr643=)
c.2502C>T (p.Thr834=)
n.15532C>T
c.15516C>T (p.Thr5172=)
c.15438C>T (p.Thr5146=)
c.12822C>T (p.Thr4274=)
c.15540C>T (p.Thr5180=)
c.15537C>T (p.Thr5179=)
c.15459C>T (p.Thr5153=)
c.15444C>T (p.Thr5148=)
c.15360C>T (p.Thr5120=)
c.*473C>T (n.*473C>T)
c.8658C>T (p.Thr2886=)
c.8637C>T (p.Thr2879=)
n.15535C>T
 dbSNP
5g.90810780A>CCA360409879ADGRV1c.15520A>C (p.Asn5174His)
c.4474A>C (p.Asn1492His)
n.2787A>C
c.265+134571A>C (n.265+134571A>C)
c.1930A>C (p.Asn644His)
c.2503A>C (p.Asn835His)
n.15533A>C
c.15517A>C (p.Asn5173His)
c.15439A>C (p.Asn5147His)
c.12823A>C (p.Asn4275His)
c.15541A>C (p.Asn5181His)
c.15538A>C (p.Asn5180His)
c.15460A>C (p.Asn5154His)
c.15445A>C (p.Asn5149His)
c.15361A>C (p.Asn5121His)
c.*474A>C (n.*474A>C)
c.8659A>C (p.Asn2887His)
c.8638A>C (p.Asn2880His)
n.15536A>C
5g.90810780A>GCA360409882ADGRV1c.15520A>G (p.Asn5174Asp)
c.4474A>G (p.Asn1492Asp)
n.2787A>G
c.265+134571A>G (n.265+134571A>G)
c.1930A>G (p.Asn644Asp)
c.2503A>G (p.Asn835Asp)
n.15533A>G
c.15517A>G (p.Asn5173Asp)
c.15439A>G (p.Asn5147Asp)
c.12823A>G (p.Asn4275Asp)
c.15541A>G (p.Asn5181Asp)
c.15538A>G (p.Asn5180Asp)
c.15460A>G (p.Asn5154Asp)
c.15445A>G (p.Asn5149Asp)
c.15361A>G (p.Asn5121Asp)
c.*474A>G (n.*474A>G)
c.8659A>G (p.Asn2887Asp)
c.8638A>G (p.Asn2880Asp)
n.15536A>G
5g.90810780A>TCA360409880ADGRV1c.15520A>T (p.Asn5174Tyr)
c.4474A>T (p.Asn1492Tyr)
n.2787A>T
c.265+134571A>T (n.265+134571A>T)
c.1930A>T (p.Asn644Tyr)
c.2503A>T (p.Asn835Tyr)
n.15533A>T
c.15517A>T (p.Asn5173Tyr)
c.15439A>T (p.Asn5147Tyr)
c.12823A>T (p.Asn4275Tyr)
c.15541A>T (p.Asn5181Tyr)
c.15538A>T (p.Asn5180Tyr)
c.15460A>T (p.Asn5154Tyr)
c.15445A>T (p.Asn5149Tyr)
c.15361A>T (p.Asn5121Tyr)
c.*474A>T (n.*474A>T)
c.8659A>T (p.Asn2887Tyr)
c.8638A>T (p.Asn2880Tyr)
n.15536A>T
5g.90810781A>CCA360409885ADGRV1c.15521A>C (p.Asn5174Thr)
c.4475A>C (p.Asn1492Thr)
n.2788A>C
c.265+134572A>C (n.265+134572A>C)
c.1931A>C (p.Asn644Thr)
c.2504A>C (p.Asn835Thr)
n.15534A>C
c.15518A>C (p.Asn5173Thr)
c.15440A>C (p.Asn5147Thr)
c.12824A>C (p.Asn4275Thr)
c.15542A>C (p.Asn5181Thr)
c.15539A>C (p.Asn5180Thr)
c.15461A>C (p.Asn5154Thr)
c.15446A>C (p.Asn5149Thr)
c.15362A>C (p.Asn5121Thr)
c.*475A>C (n.*475A>C)
c.8660A>C (p.Asn2887Thr)
c.8639A>C (p.Asn2880Thr)
n.15537A>C
5g.90810781A>GCA360409888ADGRV1c.15521A>G (p.Asn5174Ser)
c.4475A>G (p.Asn1492Ser)
n.2788A>G
c.265+134572A>G (n.265+134572A>G)
c.1931A>G (p.Asn644Ser)
c.2504A>G (p.Asn835Ser)
n.15534A>G
c.15518A>G (p.Asn5173Ser)
c.15440A>G (p.Asn5147Ser)
c.12824A>G (p.Asn4275Ser)
c.15542A>G (p.Asn5181Ser)
c.15539A>G (p.Asn5180Ser)
c.15461A>G (p.Asn5154Ser)
c.15446A>G (p.Asn5149Ser)
c.15362A>G (p.Asn5121Ser)
c.*475A>G (n.*475A>G)
c.8660A>G (p.Asn2887Ser)
c.8639A>G (p.Asn2880Ser)
n.15537A>G
5g.90810781A>TCA360409886ADGRV1c.15521A>T (p.Asn5174Ile)
c.4475A>T (p.Asn1492Ile)
n.2788A>T
c.265+134572A>T (n.265+134572A>T)
c.1931A>T (p.Asn644Ile)
c.2504A>T (p.Asn835Ile)
n.15534A>T
c.15518A>T (p.Asn5173Ile)
c.15440A>T (p.Asn5147Ile)
c.12824A>T (p.Asn4275Ile)
c.15542A>T (p.Asn5181Ile)
c.15539A>T (p.Asn5180Ile)
c.15461A>T (p.Asn5154Ile)
c.15446A>T (p.Asn5149Ile)
c.15362A>T (p.Asn5121Ile)
c.*475A>T (n.*475A>T)
c.8660A>T (p.Asn2887Ile)
c.8639A>T (p.Asn2880Ile)
n.15537A>T
5g.90810782C>ACA360409890ADGRV1c.15522C>A (p.Asn5174Lys)
c.4476C>A (p.Asn1492Lys)
n.2789C>A
c.265+134573C>A (n.265+134573C>A)
c.1932C>A (p.Asn644Lys)
c.2505C>A (p.Asn835Lys)
n.15535C>A
c.15519C>A (p.Asn5173Lys)
c.15441C>A (p.Asn5147Lys)
c.12825C>A (p.Asn4275Lys)
c.15543C>A (p.Asn5181Lys)
c.15540C>A (p.Asn5180Lys)
c.15462C>A (p.Asn5154Lys)
c.15447C>A (p.Asn5149Lys)
c.15363C>A (p.Asn5121Lys)
c.*476C>A (n.*476C>A)
c.8661C>A (p.Asn2887Lys)
c.8640C>A (p.Asn2880Lys)
n.15538C>A
 gnomAD v4
5g.90810782C=CA1562911529ADGRV1c.15522C= (p.Asn5174=)
c.4476C= (p.Asn1492=)
n.2789C=
c.265+134573C= (n.265+134573C=)
c.1932C= (p.Asn644=)
c.2505C= (p.Asn835=)
n.15535C=
c.15519C= (p.Asn5173=)
c.15441C= (p.Asn5147=)
c.12825C= (p.Asn4275=)
c.15543C= (p.Asn5181=)
c.15540C= (p.Asn5180=)
c.15462C= (p.Asn5154=)
c.15447C= (p.Asn5149=)
c.15363C= (p.Asn5121=)
c.*476C= (n.*476C=)
c.8661C= (p.Asn2887=)
c.8640C= (p.Asn2880=)
n.15538C=
5g.90810782C>GCA3341938ADGRV1c.15522C>G (p.Asn5174Lys)
c.4476C>G (p.Asn1492Lys)
n.2789C>G
c.265+134573C>G (n.265+134573C>G)
c.1932C>G (p.Asn644Lys)
c.2505C>G (p.Asn835Lys)
n.15535C>G
c.15519C>G (p.Asn5173Lys)
c.15441C>G (p.Asn5147Lys)
c.12825C>G (p.Asn4275Lys)
c.15543C>G (p.Asn5181Lys)
c.15540C>G (p.Asn5180Lys)
c.15462C>G (p.Asn5154Lys)
c.15447C>G (p.Asn5149Lys)
c.15363C>G (p.Asn5121Lys)
c.*476C>G (n.*476C>G)
c.8661C>G (p.Asn2887Lys)
c.8640C>G (p.Asn2880Lys)
n.15538C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810782C>TCA3341937ADGRV1c.15522C>T (p.Asn5174=)
c.4476C>T (p.Asn1492=)
n.2789C>T
c.265+134573C>T (n.265+134573C>T)
c.1932C>T (p.Asn644=)
c.2505C>T (p.Asn835=)
n.15535C>T
c.15519C>T (p.Asn5173=)
c.15441C>T (p.Asn5147=)
c.12825C>T (p.Asn4275=)
c.15543C>T (p.Asn5181=)
c.15540C>T (p.Asn5180=)
c.15462C>T (p.Asn5154=)
c.15447C>T (p.Asn5149=)
c.15363C>T (p.Asn5121=)
c.*476C>T (n.*476C>T)
c.8661C>T (p.Asn2887=)
c.8640C>T (p.Asn2880=)
n.15538C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810783G>ACA3341939ADGRV1c.15523G>A (p.Val5175Met)
c.4477G>A (p.Val1493Met)
n.2790G>A
c.265+134574G>A (n.265+134574G>A)
c.1933G>A (p.Val645Met)
c.2506G>A (p.Val836Met)
n.15536G>A
c.15520G>A (p.Val5174Met)
c.15442G>A (p.Val5148Met)
c.12826G>A (p.Val4276Met)
c.15544G>A (p.Val5182Met)
c.15541G>A (p.Val5181Met)
c.15463G>A (p.Val5155Met)
c.15448G>A (p.Val5150Met)
c.15364G>A (p.Val5122Met)
c.*477G>A (n.*477G>A)
c.8662G>A (p.Val2888Met)
c.8641G>A (p.Val2881Met)
n.15539G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810783G>CCA360409896ADGRV1c.15523G>C (p.Val5175Leu)
c.4477G>C (p.Val1493Leu)
n.2790G>C
c.265+134574G>C (n.265+134574G>C)
c.1933G>C (p.Val645Leu)
c.2506G>C (p.Val836Leu)
n.15536G>C
c.15520G>C (p.Val5174Leu)
c.15442G>C (p.Val5148Leu)
c.12826G>C (p.Val4276Leu)
c.15544G>C (p.Val5182Leu)
c.15541G>C (p.Val5181Leu)
c.15463G>C (p.Val5155Leu)
c.15448G>C (p.Val5150Leu)
c.15364G>C (p.Val5122Leu)
c.*477G>C (n.*477G>C)
c.8662G>C (p.Val2888Leu)
c.8641G>C (p.Val2881Leu)
n.15539G>C
5g.90810783G=CA1562911530ADGRV1c.15523G= (p.Val5175=)
c.4477G= (p.Val1493=)
n.2790G=
c.265+134574G= (n.265+134574G=)
c.1933G= (p.Val645=)
c.2506G= (p.Val836=)
n.15536G=
c.15520G= (p.Val5174=)
c.15442G= (p.Val5148=)
c.12826G= (p.Val4276=)
c.15544G= (p.Val5182=)
c.15541G= (p.Val5181=)
c.15463G= (p.Val5155=)
c.15448G= (p.Val5150=)
c.15364G= (p.Val5122=)
c.*477G= (n.*477G=)
c.8662G= (p.Val2888=)
c.8641G= (p.Val2881=)
n.15539G=
5g.90810783G>TCA360409894ADGRV1c.15523G>T (p.Val5175Leu)
c.4477G>T (p.Val1493Leu)
n.2790G>T
c.265+134574G>T (n.265+134574G>T)
c.1933G>T (p.Val645Leu)
c.2506G>T (p.Val836Leu)
n.15536G>T
c.15520G>T (p.Val5174Leu)
c.15442G>T (p.Val5148Leu)
c.12826G>T (p.Val4276Leu)
c.15544G>T (p.Val5182Leu)
c.15541G>T (p.Val5181Leu)
c.15463G>T (p.Val5155Leu)
c.15448G>T (p.Val5150Leu)
c.15364G>T (p.Val5122Leu)
c.*477G>T (n.*477G>T)
c.8662G>T (p.Val2888Leu)
c.8641G>T (p.Val2881Leu)
n.15539G>T
5g.90810784T>ACA360409899ADGRV1c.15524T>A (p.Val5175Glu)
c.4478T>A (p.Val1493Glu)
n.2791T>A
c.265+134575T>A (n.265+134575T>A)
c.1934T>A (p.Val645Glu)
c.2507T>A (p.Val836Glu)
n.15537T>A
c.15521T>A (p.Val5174Glu)
c.15443T>A (p.Val5148Glu)
c.12827T>A (p.Val4276Glu)
c.15545T>A (p.Val5182Glu)
c.15542T>A (p.Val5181Glu)
c.15464T>A (p.Val5155Glu)
c.15449T>A (p.Val5150Glu)
c.15365T>A (p.Val5122Glu)
c.*478T>A (n.*478T>A)
c.8663T>A (p.Val2888Glu)
c.8642T>A (p.Val2881Glu)
n.15540T>A
5g.90810784T>CCA360409901ADGRV1c.15524T>C (p.Val5175Ala)
c.4478T>C (p.Val1493Ala)
n.2791T>C
c.265+134575T>C (n.265+134575T>C)
c.1934T>C (p.Val645Ala)
c.2507T>C (p.Val836Ala)
n.15537T>C
c.15521T>C (p.Val5174Ala)
c.15443T>C (p.Val5148Ala)
c.12827T>C (p.Val4276Ala)
c.15545T>C (p.Val5182Ala)
c.15542T>C (p.Val5181Ala)
c.15464T>C (p.Val5155Ala)
c.15449T>C (p.Val5150Ala)
c.15365T>C (p.Val5122Ala)
c.*478T>C (n.*478T>C)
c.8663T>C (p.Val2888Ala)
c.8642T>C (p.Val2881Ala)
n.15540T>C
5g.90810784T>GCA360409900ADGRV1c.15524T>G (p.Val5175Gly)
c.4478T>G (p.Val1493Gly)
n.2791T>G
c.265+134575T>G (n.265+134575T>G)
c.1934T>G (p.Val645Gly)
c.2507T>G (p.Val836Gly)
n.15537T>G
c.15521T>G (p.Val5174Gly)
c.15443T>G (p.Val5148Gly)
c.12827T>G (p.Val4276Gly)
c.15545T>G (p.Val5182Gly)
c.15542T>G (p.Val5181Gly)
c.15464T>G (p.Val5155Gly)
c.15449T>G (p.Val5150Gly)
c.15365T>G (p.Val5122Gly)
c.*478T>G (n.*478T>G)
c.8663T>G (p.Val2888Gly)
c.8642T>G (p.Val2881Gly)
n.15540T>G
5g.90810785G>ACA445468545ADGRV1c.15525G>A (p.Val5175=)
c.4479G>A (p.Val1493=)
n.2792G>A
c.265+134576G>A (n.265+134576G>A)
c.1935G>A (p.Val645=)
c.2508G>A (p.Val836=)
n.15538G>A
c.15522G>A (p.Val5174=)
c.15444G>A (p.Val5148=)
c.12828G>A (p.Val4276=)
c.15546G>A (p.Val5182=)
c.15543G>A (p.Val5181=)
c.15465G>A (p.Val5155=)
c.15450G>A (p.Val5150=)
c.15366G>A (p.Val5122=)
c.*479G>A (n.*479G>A)
c.8664G>A (p.Val2888=)
c.8643G>A (p.Val2881=)
n.15541G>A
 gnomAD v4
5g.90810785G>CCA445468546ADGRV1c.15525G>C (p.Val5175=)
c.4479G>C (p.Val1493=)
n.2792G>C
c.265+134576G>C (n.265+134576G>C)
c.1935G>C (p.Val645=)
c.2508G>C (p.Val836=)
n.15538G>C
c.15522G>C (p.Val5174=)
c.15444G>C (p.Val5148=)
c.12828G>C (p.Val4276=)
c.15546G>C (p.Val5182=)
c.15543G>C (p.Val5181=)
c.15465G>C (p.Val5155=)
c.15450G>C (p.Val5150=)
c.15366G>C (p.Val5122=)
c.*479G>C (n.*479G>C)
c.8664G>C (p.Val2888=)
c.8643G>C (p.Val2881=)
n.15541G>C
5g.90810785G>TCA445468553ADGRV1c.15525G>T (p.Val5175=)
c.4479G>T (p.Val1493=)
n.2792G>T
c.265+134576G>T (n.265+134576G>T)
c.1935G>T (p.Val645=)
c.2508G>T (p.Val836=)
n.15538G>T
c.15522G>T (p.Val5174=)
c.15444G>T (p.Val5148=)
c.12828G>T (p.Val4276=)
c.15546G>T (p.Val5182=)
c.15543G>T (p.Val5181=)
c.15465G>T (p.Val5155=)
c.15450G>T (p.Val5150=)
c.15366G>T (p.Val5122=)
c.*479G>T (n.*479G>T)
c.8664G>T (p.Val2888=)
c.8643G>T (p.Val2881=)
n.15541G>T
5g.90810786G>ACA360409903ADGRV1c.15526G>A (p.Val5176Ile)
c.4480G>A (p.Val1494Ile)
n.2793G>A
c.265+134577G>A (n.265+134577G>A)
c.1936G>A (p.Val646Ile)
c.2509G>A (p.Val837Ile)
n.15539G>A
c.15523G>A (p.Val5175Ile)
c.15445G>A (p.Val5149Ile)
c.12829G>A (p.Val4277Ile)
c.15547G>A (p.Val5183Ile)
c.15544G>A (p.Val5182Ile)
c.15466G>A (p.Val5156Ile)
c.15451G>A (p.Val5151Ile)
c.15367G>A (p.Val5123Ile)
c.*480G>A (n.*480G>A)
c.8665G>A (p.Val2889Ile)
c.8644G>A (p.Val2882Ile)
n.15542G>A
 COSMIC
5g.90810786G>CCA360409907ADGRV1c.15526G>C (p.Val5176Leu)
c.4480G>C (p.Val1494Leu)
n.2793G>C
c.265+134577G>C (n.265+134577G>C)
c.1936G>C (p.Val646Leu)
c.2509G>C (p.Val837Leu)
n.15539G>C
c.15523G>C (p.Val5175Leu)
c.15445G>C (p.Val5149Leu)
c.12829G>C (p.Val4277Leu)
c.15547G>C (p.Val5183Leu)
c.15544G>C (p.Val5182Leu)
c.15466G>C (p.Val5156Leu)
c.15451G>C (p.Val5151Leu)
c.15367G>C (p.Val5123Leu)
c.*480G>C (n.*480G>C)
c.8665G>C (p.Val2889Leu)
c.8644G>C (p.Val2882Leu)
n.15542G>C
5g.90810786G>TCA360409905ADGRV1c.15526G>T (p.Val5176Phe)
c.4480G>T (p.Val1494Phe)
n.2793G>T
c.265+134577G>T (n.265+134577G>T)
c.1936G>T (p.Val646Phe)
c.2509G>T (p.Val837Phe)
n.15539G>T
c.15523G>T (p.Val5175Phe)
c.15445G>T (p.Val5149Phe)
c.12829G>T (p.Val4277Phe)
c.15547G>T (p.Val5183Phe)
c.15544G>T (p.Val5182Phe)
c.15466G>T (p.Val5156Phe)
c.15451G>T (p.Val5151Phe)
c.15367G>T (p.Val5123Phe)
c.*480G>T (n.*480G>T)
c.8665G>T (p.Val2889Phe)
c.8644G>T (p.Val2882Phe)
n.15542G>T
5g.90810787T>ACA360409909ADGRV1c.15527T>A (p.Val5176Asp)
c.4481T>A (p.Val1494Asp)
n.2794T>A
c.265+134578T>A (n.265+134578T>A)
c.1937T>A (p.Val646Asp)
c.2510T>A (p.Val837Asp)
n.15540T>A
c.15524T>A (p.Val5175Asp)
c.15446T>A (p.Val5149Asp)
c.12830T>A (p.Val4277Asp)
c.15548T>A (p.Val5183Asp)
c.15545T>A (p.Val5182Asp)
c.15467T>A (p.Val5156Asp)
c.15452T>A (p.Val5151Asp)
c.15368T>A (p.Val5123Asp)
c.*481T>A (n.*481T>A)
c.8666T>A (p.Val2889Asp)
c.8645T>A (p.Val2882Asp)
n.15543T>A
5g.90810787T>CCA3341940ADGRV1c.15527T>C (p.Val5176Ala)
c.4481T>C (p.Val1494Ala)
n.2794T>C
c.265+134578T>C (n.265+134578T>C)
c.1937T>C (p.Val646Ala)
c.2510T>C (p.Val837Ala)
n.15540T>C
c.15524T>C (p.Val5175Ala)
c.15446T>C (p.Val5149Ala)
c.12830T>C (p.Val4277Ala)
c.15548T>C (p.Val5183Ala)
c.15545T>C (p.Val5182Ala)
c.15467T>C (p.Val5156Ala)
c.15452T>C (p.Val5151Ala)
c.15368T>C (p.Val5123Ala)
c.*481T>C (n.*481T>C)
c.8666T>C (p.Val2889Ala)
c.8645T>C (p.Val2882Ala)
n.15543T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810787T>GCA360409911ADGRV1c.15527T>G (p.Val5176Gly)
c.4481T>G (p.Val1494Gly)
n.2794T>G
c.265+134578T>G (n.265+134578T>G)
c.1937T>G (p.Val646Gly)
c.2510T>G (p.Val837Gly)
n.15540T>G
c.15524T>G (p.Val5175Gly)
c.15446T>G (p.Val5149Gly)
c.12830T>G (p.Val4277Gly)
c.15548T>G (p.Val5183Gly)
c.15545T>G (p.Val5182Gly)
c.15467T>G (p.Val5156Gly)
c.15452T>G (p.Val5151Gly)
c.15368T>G (p.Val5123Gly)
c.*481T>G (n.*481T>G)
c.8666T>G (p.Val2889Gly)
c.8645T>G (p.Val2882Gly)
n.15543T>G
5g.90810787T=CA1562911531ADGRV1c.15527T= (p.Val5176=)
c.4481T= (p.Val1494=)
n.2794T=
c.265+134578T= (n.265+134578T=)
c.1937T= (p.Val646=)
c.2510T= (p.Val837=)
n.15540T=
c.15524T= (p.Val5175=)
c.15446T= (p.Val5149=)
c.12830T= (p.Val4277=)
c.15548T= (p.Val5183=)
c.15545T= (p.Val5182=)
c.15467T= (p.Val5156=)
c.15452T= (p.Val5151=)
c.15368T= (p.Val5123=)
c.*481T= (n.*481T=)
c.8666T= (p.Val2889=)
c.8645T= (p.Val2882=)
n.15543T=
5g.90810788T>ACA445468568ADGRV1c.15528T>A (p.Val5176=)
c.4482T>A (p.Val1494=)
n.2795T>A
c.265+134579T>A (n.265+134579T>A)
c.1938T>A (p.Val646=)
c.2511T>A (p.Val837=)
n.15541T>A
c.15525T>A (p.Val5175=)
c.15447T>A (p.Val5149=)
c.12831T>A (p.Val4277=)
c.15549T>A (p.Val5183=)
c.15546T>A (p.Val5182=)
c.15468T>A (p.Val5156=)
c.15453T>A (p.Val5151=)
c.15369T>A (p.Val5123=)
c.*482T>A (n.*482T>A)
c.8667T>A (p.Val2889=)
c.8646T>A (p.Val2882=)
n.15544T>A
5g.90810788T>CCA3341941ADGRV1c.15528T>C (p.Val5176=)
c.4482T>C (p.Val1494=)
n.2795T>C
c.265+134579T>C (n.265+134579T>C)
c.1938T>C (p.Val646=)
c.2511T>C (p.Val837=)
n.15541T>C
c.15525T>C (p.Val5175=)
c.15447T>C (p.Val5149=)
c.12831T>C (p.Val4277=)
c.15549T>C (p.Val5183=)
c.15546T>C (p.Val5182=)
c.15468T>C (p.Val5156=)
c.15453T>C (p.Val5151=)
c.15369T>C (p.Val5123=)
c.*482T>C (n.*482T>C)
c.8667T>C (p.Val2889=)
c.8646T>C (p.Val2882=)
n.15544T>C
 dbSNP ExAC gnomAD v2
5g.90810788T>GCA445468569ADGRV1c.15528T>G (p.Val5176=)
c.4482T>G (p.Val1494=)
n.2795T>G
c.265+134579T>G (n.265+134579T>G)
c.1938T>G (p.Val646=)
c.2511T>G (p.Val837=)
n.15541T>G
c.15525T>G (p.Val5175=)
c.15447T>G (p.Val5149=)
c.12831T>G (p.Val4277=)
c.15549T>G (p.Val5183=)
c.15546T>G (p.Val5182=)
c.15468T>G (p.Val5156=)
c.15453T>G (p.Val5151=)
c.15369T>G (p.Val5123=)
c.*482T>G (n.*482T>G)
c.8667T>G (p.Val2889=)
c.8646T>G (p.Val2882=)
n.15544T>G
5g.90810788T=CA1562911532ADGRV1c.15528T= (p.Val5176=)
c.4482T= (p.Val1494=)
n.2795T=
c.265+134579T= (n.265+134579T=)
c.1938T= (p.Val646=)
c.2511T= (p.Val837=)
n.15541T=
c.15525T= (p.Val5175=)
c.15447T= (p.Val5149=)
c.12831T= (p.Val4277=)
c.15549T= (p.Val5183=)
c.15546T= (p.Val5182=)
c.15468T= (p.Val5156=)
c.15453T= (p.Val5151=)
c.15369T= (p.Val5123=)
c.*482T= (n.*482T=)
c.8667T= (p.Val2889=)
c.8646T= (p.Val2882=)
n.15544T=
5g.90810789G>ACA360409916ADGRV1c.15529G>A (p.Ala5177Thr)
c.4483G>A (p.Ala1495Thr)
n.2796G>A
c.265+134580G>A (n.265+134580G>A)
c.1939G>A (p.Ala647Thr)
c.2512G>A (p.Ala838Thr)
n.15542G>A
c.15526G>A (p.Ala5176Thr)
c.15448G>A (p.Ala5150Thr)
c.12832G>A (p.Ala4278Thr)
c.15550G>A (p.Ala5184Thr)
c.15547G>A (p.Ala5183Thr)
c.15469G>A (p.Ala5157Thr)
c.15454G>A (p.Ala5152Thr)
c.15370G>A (p.Ala5124Thr)
c.*483G>A (n.*483G>A)
c.8668G>A (p.Ala2890Thr)
c.8647G>A (p.Ala2883Thr)
n.15545G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90810789G>CCA360409914ADGRV1c.15529G>C (p.Ala5177Pro)
c.4483G>C (p.Ala1495Pro)
n.2796G>C
c.265+134580G>C (n.265+134580G>C)
c.1939G>C (p.Ala647Pro)
c.2512G>C (p.Ala838Pro)
n.15542G>C
c.15526G>C (p.Ala5176Pro)
c.15448G>C (p.Ala5150Pro)
c.12832G>C (p.Ala4278Pro)
c.15550G>C (p.Ala5184Pro)
c.15547G>C (p.Ala5183Pro)
c.15469G>C (p.Ala5157Pro)
c.15454G>C (p.Ala5152Pro)
c.15370G>C (p.Ala5124Pro)
c.*483G>C (n.*483G>C)
c.8668G>C (p.Ala2890Pro)
c.8647G>C (p.Ala2883Pro)
n.15545G>C
5g.90810789G=CA1562911533ADGRV1c.15529G= (p.Ala5177=)
c.4483G= (p.Ala1495=)
n.2796G=
c.265+134580G= (n.265+134580G=)
c.1939G= (p.Ala647=)
c.2512G= (p.Ala838=)
n.15542G=
c.15526G= (p.Ala5176=)
c.15448G= (p.Ala5150=)
c.12832G= (p.Ala4278=)
c.15550G= (p.Ala5184=)
c.15547G= (p.Ala5183=)
c.15469G= (p.Ala5157=)
c.15454G= (p.Ala5152=)
c.15370G= (p.Ala5124=)
c.*483G= (n.*483G=)
c.8668G= (p.Ala2890=)
c.8647G= (p.Ala2883=)
n.15545G=
5g.90810789G>TCA360409918ADGRV1c.15529G>T (p.Ala5177Ser)
c.4483G>T (p.Ala1495Ser)
n.2796G>T
c.265+134580G>T (n.265+134580G>T)
c.1939G>T (p.Ala647Ser)
c.2512G>T (p.Ala838Ser)
n.15542G>T
c.15526G>T (p.Ala5176Ser)
c.15448G>T (p.Ala5150Ser)
c.12832G>T (p.Ala4278Ser)
c.15550G>T (p.Ala5184Ser)
c.15547G>T (p.Ala5183Ser)
c.15469G>T (p.Ala5157Ser)
c.15454G>T (p.Ala5152Ser)
c.15370G>T (p.Ala5124Ser)
c.*483G>T (n.*483G>T)
c.8668G>T (p.Ala2890Ser)
c.8647G>T (p.Ala2883Ser)
n.15545G>T
 gnomAD v4
5g.90810790C>ACA360409920ADGRV1c.15530C>A (p.Ala5177Asp)
c.4484C>A (p.Ala1495Asp)
n.2797C>A
c.265+134581C>A (n.265+134581C>A)
c.1940C>A (p.Ala647Asp)
c.2513C>A (p.Ala838Asp)
n.15543C>A
c.15527C>A (p.Ala5176Asp)
c.15449C>A (p.Ala5150Asp)
c.12833C>A (p.Ala4278Asp)
c.15551C>A (p.Ala5184Asp)
c.15548C>A (p.Ala5183Asp)
c.15470C>A (p.Ala5157Asp)
c.15455C>A (p.Ala5152Asp)
c.15371C>A (p.Ala5124Asp)
c.*484C>A (n.*484C>A)
c.8669C>A (p.Ala2890Asp)
c.8648C>A (p.Ala2883Asp)
n.15546C>A
5g.90810790C>GCA360409924ADGRV1c.15530C>G (p.Ala5177Gly)
c.4484C>G (p.Ala1495Gly)
n.2797C>G
c.265+134581C>G (n.265+134581C>G)
c.1940C>G (p.Ala647Gly)
c.2513C>G (p.Ala838Gly)
n.15543C>G
c.15527C>G (p.Ala5176Gly)
c.15449C>G (p.Ala5150Gly)
c.12833C>G (p.Ala4278Gly)
c.15551C>G (p.Ala5184Gly)
c.15548C>G (p.Ala5183Gly)
c.15470C>G (p.Ala5157Gly)
c.15455C>G (p.Ala5152Gly)
c.15371C>G (p.Ala5124Gly)
c.*484C>G (n.*484C>G)
c.8669C>G (p.Ala2890Gly)
c.8648C>G (p.Ala2883Gly)
n.15546C>G
5g.90810790C>TCA360409922ADGRV1c.15530C>T (p.Ala5177Val)
c.4484C>T (p.Ala1495Val)
n.2797C>T
c.265+134581C>T (n.265+134581C>T)
c.1940C>T (p.Ala647Val)
c.2513C>T (p.Ala838Val)
n.15543C>T
c.15527C>T (p.Ala5176Val)
c.15449C>T (p.Ala5150Val)
c.12833C>T (p.Ala4278Val)
c.15551C>T (p.Ala5184Val)
c.15548C>T (p.Ala5183Val)
c.15470C>T (p.Ala5157Val)
c.15455C>T (p.Ala5152Val)
c.15371C>T (p.Ala5124Val)
c.*484C>T (n.*484C>T)
c.8669C>T (p.Ala2890Val)
c.8648C>T (p.Ala2883Val)
n.15546C>T
5g.90810791C>ACA445468579ADGRV1c.15531C>A (p.Ala5177=)
c.4485C>A (p.Ala1495=)
n.2798C>A
c.265+134582C>A (n.265+134582C>A)
c.1941C>A (p.Ala647=)
c.2514C>A (p.Ala838=)
n.15544C>A
c.15528C>A (p.Ala5176=)
c.15450C>A (p.Ala5150=)
c.12834C>A (p.Ala4278=)
c.15552C>A (p.Ala5184=)
c.15549C>A (p.Ala5183=)
c.15471C>A (p.Ala5157=)
c.15456C>A (p.Ala5152=)
c.15372C>A (p.Ala5124=)
c.*485C>A (n.*485C>A)
c.8670C>A (p.Ala2890=)
c.8649C>A (p.Ala2883=)
n.15547C>A
5g.90810791C>GCA445468585ADGRV1c.15531C>G (p.Ala5177=)
c.4485C>G (p.Ala1495=)
n.2798C>G
c.265+134582C>G (n.265+134582C>G)
c.1941C>G (p.Ala647=)
c.2514C>G (p.Ala838=)
n.15544C>G
c.15528C>G (p.Ala5176=)
c.15450C>G (p.Ala5150=)
c.12834C>G (p.Ala4278=)
c.15552C>G (p.Ala5184=)
c.15549C>G (p.Ala5183=)
c.15471C>G (p.Ala5157=)
c.15456C>G (p.Ala5152=)
c.15372C>G (p.Ala5124=)
c.*485C>G (n.*485C>G)
c.8670C>G (p.Ala2890=)
c.8649C>G (p.Ala2883=)
n.15547C>G
5g.90810791C>TCA445468586ADGRV1c.15531C>T (p.Ala5177=)
c.4485C>T (p.Ala1495=)
n.2798C>T
c.265+134582C>T (n.265+134582C>T)
c.1941C>T (p.Ala647=)
c.2514C>T (p.Ala838=)
n.15544C>T
c.15528C>T (p.Ala5176=)
c.15450C>T (p.Ala5150=)
c.12834C>T (p.Ala4278=)
c.15552C>T (p.Ala5184=)
c.15549C>T (p.Ala5183=)
c.15471C>T (p.Ala5157=)
c.15456C>T (p.Ala5152=)
c.15372C>T (p.Ala5124=)
c.*485C>T (n.*485C>T)
c.8670C>T (p.Ala2890=)
c.8649C>T (p.Ala2883=)
n.15547C>T
5g.90810791_90810792delCA2674577085ADGRV1c.15531_15532del (p.Ile5178CysfsTer3)
c.4485_4486del (p.Ile1496CysfsTer3)
n.2798_2799del
c.265+134582_265+134583del (n.265+134582_265+134583del)
c.1941_1942del (p.Ile648CysfsTer3)
c.2514_2515del (p.Ile839CysfsTer3)
n.15544_15545del
c.15528_15529del (p.Ile5177CysfsTer3)
c.15450_15451del (p.Ile5151CysfsTer3)
c.12834_12835del (p.Ile4279CysfsTer3)
c.15552_15553del (p.Ile5185CysfsTer3)
c.15549_15550del (p.Ile5184CysfsTer3)
c.15471_15472del (p.Ile5158CysfsTer3)
c.15456_15457del (p.Ile5153CysfsTer3)
c.15372_15373del (p.Ile5125CysfsTer3)
c.*485_*486del (n.*485_*486del)
c.8670_8671del (p.Ile2891CysfsTer3)
c.8649_8650del (p.Ile2884CysfsTer3)
n.15547_15548del
 gnomAD v4
5g.90810792delCA2674577086ADGRV1c.15532del (p.Ile5178LeufsTer?)
c.4486del (p.Ile1496LeufsTer?)
n.2799del
c.265+134583del (n.265+134583del)
c.1942del (p.Ile648LeufsTer?)
c.2515del (p.Ile839LeufsTer?)
n.15545del
c.15529del (p.Ile5177LeufsTer?)
c.15451del (p.Ile5151LeufsTer?)
c.12835del (p.Ile4279LeufsTer?)
c.15553del (p.Ile5185LeufsTer?)
c.15550del (p.Ile5184LeufsTer?)
c.15472del (p.Ile5158LeufsTer?)
c.15457del (p.Ile5153LeufsTer?)
c.15373del (p.Ile5125LeufsTer?)
c.*486del (n.*486del)
c.8671del (p.Ile2891LeufsTer?)
c.8650del (p.Ile2884LeufsTer?)
n.15548del
 gnomAD v4
5g.90810792A=CA1562911534ADGRV1c.15532A= (p.Ile5178=)
c.4486A= (p.Ile1496=)
n.2799A=
c.265+134583A= (n.265+134583A=)
c.1942A= (p.Ile648=)
c.2515A= (p.Ile839=)
n.15545A=
c.15529A= (p.Ile5177=)
c.15451A= (p.Ile5151=)
c.12835A= (p.Ile4279=)
c.15553A= (p.Ile5185=)
c.15550A= (p.Ile5184=)
c.15472A= (p.Ile5158=)
c.15457A= (p.Ile5153=)
c.15373A= (p.Ile5125=)
c.*486A= (n.*486A=)
c.8671A= (p.Ile2891=)
c.8650A= (p.Ile2884=)
n.15548A=
5g.90810792A>CCA360409926ADGRV1c.15532A>C (p.Ile5178Leu)
c.4486A>C (p.Ile1496Leu)
n.2799A>C
c.265+134583A>C (n.265+134583A>C)
c.1942A>C (p.Ile648Leu)
c.2515A>C (p.Ile839Leu)
n.15545A>C
c.15529A>C (p.Ile5177Leu)
c.15451A>C (p.Ile5151Leu)
c.12835A>C (p.Ile4279Leu)
c.15553A>C (p.Ile5185Leu)
c.15550A>C (p.Ile5184Leu)
c.15472A>C (p.Ile5158Leu)
c.15457A>C (p.Ile5153Leu)
c.15373A>C (p.Ile5125Leu)
c.*486A>C (n.*486A>C)
c.8671A>C (p.Ile2891Leu)
c.8650A>C (p.Ile2884Leu)
n.15548A>C
5g.90810792A>GCA360409928ADGRV1c.15532A>G (p.Ile5178Val)
c.4486A>G (p.Ile1496Val)
n.2799A>G
c.265+134583A>G (n.265+134583A>G)
c.1942A>G (p.Ile648Val)
c.2515A>G (p.Ile839Val)
n.15545A>G
c.15529A>G (p.Ile5177Val)
c.15451A>G (p.Ile5151Val)
c.12835A>G (p.Ile4279Val)
c.15553A>G (p.Ile5185Val)
c.15550A>G (p.Ile5184Val)
c.15472A>G (p.Ile5158Val)
c.15457A>G (p.Ile5153Val)
c.15373A>G (p.Ile5125Val)
c.*486A>G (n.*486A>G)
c.8671A>G (p.Ile2891Val)
c.8650A>G (p.Ile2884Val)
n.15548A>G
 dbSNP gnomAD v2 gnomAD v4
5g.90810792A>TCA360409929ADGRV1c.15532A>T (p.Ile5178Phe)
c.4486A>T (p.Ile1496Phe)
n.2799A>T
c.265+134583A>T (n.265+134583A>T)
c.1942A>T (p.Ile648Phe)
c.2515A>T (p.Ile839Phe)
n.15545A>T
c.15529A>T (p.Ile5177Phe)
c.15451A>T (p.Ile5151Phe)
c.12835A>T (p.Ile4279Phe)
c.15553A>T (p.Ile5185Phe)
c.15550A>T (p.Ile5184Phe)
c.15472A>T (p.Ile5158Phe)
c.15457A>T (p.Ile5153Phe)
c.15373A>T (p.Ile5125Phe)
c.*486A>T (n.*486A>T)
c.8671A>T (p.Ile2891Phe)
c.8650A>T (p.Ile2884Phe)
n.15548A>T
5g.90810793T>ACA360409932ADGRV1c.15533T>A (p.Ile5178Asn)
c.4487T>A (p.Ile1496Asn)
n.2800T>A
c.265+134584T>A (n.265+134584T>A)
c.1943T>A (p.Ile648Asn)
c.2516T>A (p.Ile839Asn)
n.15546T>A
c.15530T>A (p.Ile5177Asn)
c.15452T>A (p.Ile5151Asn)
c.12836T>A (p.Ile4279Asn)
c.15554T>A (p.Ile5185Asn)
c.15551T>A (p.Ile5184Asn)
c.15473T>A (p.Ile5158Asn)
c.15458T>A (p.Ile5153Asn)
c.15374T>A (p.Ile5125Asn)
c.*487T>A (n.*487T>A)
c.8672T>A (p.Ile2891Asn)
c.8651T>A (p.Ile2884Asn)
n.15549T>A
5g.90810793T>CCA3341942ADGRV1c.15533T>C (p.Ile5178Thr)
c.4487T>C (p.Ile1496Thr)
n.2800T>C
c.265+134584T>C (n.265+134584T>C)
c.1943T>C (p.Ile648Thr)
c.2516T>C (p.Ile839Thr)
n.15546T>C
c.15530T>C (p.Ile5177Thr)
c.15452T>C (p.Ile5151Thr)
c.12836T>C (p.Ile4279Thr)
c.15554T>C (p.Ile5185Thr)
c.15551T>C (p.Ile5184Thr)
c.15473T>C (p.Ile5158Thr)
c.15458T>C (p.Ile5153Thr)
c.15374T>C (p.Ile5125Thr)
c.*487T>C (n.*487T>C)
c.8672T>C (p.Ile2891Thr)
c.8651T>C (p.Ile2884Thr)
n.15549T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810793T>GCA360409935ADGRV1c.15533T>G (p.Ile5178Ser)
c.4487T>G (p.Ile1496Ser)
n.2800T>G
c.265+134584T>G (n.265+134584T>G)
c.1943T>G (p.Ile648Ser)
c.2516T>G (p.Ile839Ser)
n.15546T>G
c.15530T>G (p.Ile5177Ser)
c.15452T>G (p.Ile5151Ser)
c.12836T>G (p.Ile4279Ser)
c.15554T>G (p.Ile5185Ser)
c.15551T>G (p.Ile5184Ser)
c.15473T>G (p.Ile5158Ser)
c.15458T>G (p.Ile5153Ser)
c.15374T>G (p.Ile5125Ser)
c.*487T>G (n.*487T>G)
c.8672T>G (p.Ile2891Ser)
c.8651T>G (p.Ile2884Ser)
n.15549T>G
5g.90810793T=CA1562911535ADGRV1c.15533T= (p.Ile5178=)
c.4487T= (p.Ile1496=)
n.2800T=
c.265+134584T= (n.265+134584T=)
c.1943T= (p.Ile648=)
c.2516T= (p.Ile839=)
n.15546T=
c.15530T= (p.Ile5177=)
c.15452T= (p.Ile5151=)
c.12836T= (p.Ile4279=)
c.15554T= (p.Ile5185=)
c.15551T= (p.Ile5184=)
c.15473T= (p.Ile5158=)
c.15458T= (p.Ile5153=)
c.15374T= (p.Ile5125=)
c.*487T= (n.*487T=)
c.8672T= (p.Ile2891=)
c.8651T= (p.Ile2884=)
n.15549T=
5g.90810794T>ACA445468601ADGRV1c.15534T>A (p.Ile5178=)
c.4488T>A (p.Ile1496=)
n.2801T>A
c.265+134585T>A (n.265+134585T>A)
c.1944T>A (p.Ile648=)
c.2517T>A (p.Ile839=)
n.15547T>A
c.15531T>A (p.Ile5177=)
c.15453T>A (p.Ile5151=)
c.12837T>A (p.Ile4279=)
c.15555T>A (p.Ile5185=)
c.15552T>A (p.Ile5184=)
c.15474T>A (p.Ile5158=)
c.15459T>A (p.Ile5153=)
c.15375T>A (p.Ile5125=)
c.*488T>A (n.*488T>A)
c.8673T>A (p.Ile2891=)
c.8652T>A (p.Ile2884=)
n.15550T>A
5g.90810794T>CCA445468602ADGRV1c.15534T>C (p.Ile5178=)
c.4488T>C (p.Ile1496=)
n.2801T>C
c.265+134585T>C (n.265+134585T>C)
c.1944T>C (p.Ile648=)
c.2517T>C (p.Ile839=)
n.15547T>C
c.15531T>C (p.Ile5177=)
c.15453T>C (p.Ile5151=)
c.12837T>C (p.Ile4279=)
c.15555T>C (p.Ile5185=)
c.15552T>C (p.Ile5184=)
c.15474T>C (p.Ile5158=)
c.15459T>C (p.Ile5153=)
c.15375T>C (p.Ile5125=)
c.*488T>C (n.*488T>C)
c.8673T>C (p.Ile2891=)
c.8652T>C (p.Ile2884=)
n.15550T>C
5g.90810794T>GCA360409938ADGRV1c.15534T>G (p.Ile5178Met)
c.4488T>G (p.Ile1496Met)
n.2801T>G
c.265+134585T>G (n.265+134585T>G)
c.1944T>G (p.Ile648Met)
c.2517T>G (p.Ile839Met)
n.15547T>G
c.15531T>G (p.Ile5177Met)
c.15453T>G (p.Ile5151Met)
c.12837T>G (p.Ile4279Met)
c.15555T>G (p.Ile5185Met)
c.15552T>G (p.Ile5184Met)
c.15474T>G (p.Ile5158Met)
c.15459T>G (p.Ile5153Met)
c.15375T>G (p.Ile5125Met)
c.*488T>G (n.*488T>G)
c.8673T>G (p.Ile2891Met)
c.8652T>G (p.Ile2884Met)
n.15550T>G
5g.90810795G>ACA360409939ADGRV1c.15535G>A (p.Val5179Ile)
c.4489G>A (p.Val1497Ile)
n.2802G>A
c.265+134586G>A (n.265+134586G>A)
c.1945G>A (p.Val649Ile)
c.2518G>A (p.Val840Ile)
n.15548G>A
c.15532G>A (p.Val5178Ile)
c.15454G>A (p.Val5152Ile)
c.12838G>A (p.Val4280Ile)
c.15556G>A (p.Val5186Ile)
c.15553G>A (p.Val5185Ile)
c.15475G>A (p.Val5159Ile)
c.15460G>A (p.Val5154Ile)
c.15376G>A (p.Val5126Ile)
c.*489G>A (n.*489G>A)
c.8674G>A (p.Val2892Ile)
c.8653G>A (p.Val2885Ile)
n.15551G>A
5g.90810795G>CCA360409941ADGRV1c.15535G>C (p.Val5179Leu)
c.4489G>C (p.Val1497Leu)
n.2802G>C
c.265+134586G>C (n.265+134586G>C)
c.1945G>C (p.Val649Leu)
c.2518G>C (p.Val840Leu)
n.15548G>C
c.15532G>C (p.Val5178Leu)
c.15454G>C (p.Val5152Leu)
c.12838G>C (p.Val4280Leu)
c.15556G>C (p.Val5186Leu)
c.15553G>C (p.Val5185Leu)
c.15475G>C (p.Val5159Leu)
c.15460G>C (p.Val5154Leu)
c.15376G>C (p.Val5126Leu)
c.*489G>C (n.*489G>C)
c.8674G>C (p.Val2892Leu)
c.8653G>C (p.Val2885Leu)
n.15551G>C
5g.90810795G>TCA360409942ADGRV1c.15535G>T (p.Val5179Phe)
c.4489G>T (p.Val1497Phe)
n.2802G>T
c.265+134586G>T (n.265+134586G>T)
c.1945G>T (p.Val649Phe)
c.2518G>T (p.Val840Phe)
n.15548G>T
c.15532G>T (p.Val5178Phe)
c.15454G>T (p.Val5152Phe)
c.12838G>T (p.Val4280Phe)
c.15556G>T (p.Val5186Phe)
c.15553G>T (p.Val5185Phe)
c.15475G>T (p.Val5159Phe)
c.15460G>T (p.Val5154Phe)
c.15376G>T (p.Val5126Phe)
c.*489G>T (n.*489G>T)
c.8674G>T (p.Val2892Phe)
c.8653G>T (p.Val2885Phe)
n.15551G>T
5g.90810795_90810796insCAGCA2674577087ADGRV1c.15535_15536insCAG (p.Ile5178_Val5179insAla)
c.4489_4490insCAG (p.Ile1496_Val1497insAla)
n.2802_2803insCAG
c.265+134586_265+134587insCAG (n.265+134586_265+134587insCAG)
c.1945_1946insCAG (p.Ile648_Val649insAla)
c.2518_2519insCAG (p.Ile839_Val840insAla)
n.15548_15549insCAG
c.15532_15533insCAG (p.Ile5177_Val5178insAla)
c.15454_15455insCAG (p.Ile5151_Val5152insAla)
c.12838_12839insCAG (p.Ile4279_Val4280insAla)
c.15556_15557insCAG (p.Ile5185_Val5186insAla)
c.15553_15554insCAG (p.Ile5184_Val5185insAla)
c.15475_15476insCAG (p.Ile5158_Val5159insAla)
c.15460_15461insCAG (p.Ile5153_Val5154insAla)
c.15376_15377insCAG (p.Ile5125_Val5126insAla)
c.*489_*490insCAG (n.*489_*490insCAG)
c.8674_8675insCAG (p.Ile2891_Val2892insAla)
c.8653_8654insCAG (p.Ile2884_Val2885insAla)
n.15551_15552insCAG
 gnomAD v4
5g.90810796T>ACA360409947ADGRV1c.15536T>A (p.Val5179Asp)
c.4490T>A (p.Val1497Asp)
n.2803T>A
c.265+134587T>A (n.265+134587T>A)
c.1946T>A (p.Val649Asp)
c.2519T>A (p.Val840Asp)
n.15549T>A
c.15533T>A (p.Val5178Asp)
c.15455T>A (p.Val5152Asp)
c.12839T>A (p.Val4280Asp)
c.15557T>A (p.Val5186Asp)
c.15554T>A (p.Val5185Asp)
c.15476T>A (p.Val5159Asp)
c.15461T>A (p.Val5154Asp)
c.15377T>A (p.Val5126Asp)
c.*490T>A (n.*490T>A)
c.8675T>A (p.Val2892Asp)
c.8654T>A (p.Val2885Asp)
n.15552T>A
 gnomAD v4
5g.90810796T>CCA360409945ADGRV1c.15536T>C (p.Val5179Ala)
c.4490T>C (p.Val1497Ala)
n.2803T>C
c.265+134587T>C (n.265+134587T>C)
c.1946T>C (p.Val649Ala)
c.2519T>C (p.Val840Ala)
n.15549T>C
c.15533T>C (p.Val5178Ala)
c.15455T>C (p.Val5152Ala)
c.12839T>C (p.Val4280Ala)
c.15557T>C (p.Val5186Ala)
c.15554T>C (p.Val5185Ala)
c.15476T>C (p.Val5159Ala)
c.15461T>C (p.Val5154Ala)
c.15377T>C (p.Val5126Ala)
c.*490T>C (n.*490T>C)
c.8675T>C (p.Val2892Ala)
c.8654T>C (p.Val2885Ala)
n.15552T>C
5g.90810796T>GCA360409944ADGRV1c.15536T>G (p.Val5179Gly)
c.4490T>G (p.Val1497Gly)
n.2803T>G
c.265+134587T>G (n.265+134587T>G)
c.1946T>G (p.Val649Gly)
c.2519T>G (p.Val840Gly)
n.15549T>G
c.15533T>G (p.Val5178Gly)
c.15455T>G (p.Val5152Gly)
c.12839T>G (p.Val4280Gly)
c.15557T>G (p.Val5186Gly)
c.15554T>G (p.Val5185Gly)
c.15476T>G (p.Val5159Gly)
c.15461T>G (p.Val5154Gly)
c.15377T>G (p.Val5126Gly)
c.*490T>G (n.*490T>G)
c.8675T>G (p.Val2892Gly)
c.8654T>G (p.Val2885Gly)
n.15552T>G
5g.90810797T>ACA445468605ADGRV1c.15537T>A (p.Val5179=)
c.4491T>A (p.Val1497=)
n.2804T>A
c.265+134588T>A (n.265+134588T>A)
c.1947T>A (p.Val649=)
c.2520T>A (p.Val840=)
n.15550T>A
c.15534T>A (p.Val5178=)
c.15456T>A (p.Val5152=)
c.12840T>A (p.Val4280=)
c.15558T>A (p.Val5186=)
c.15555T>A (p.Val5185=)
c.15477T>A (p.Val5159=)
c.15462T>A (p.Val5154=)
c.15378T>A (p.Val5126=)
c.*491T>A (n.*491T>A)
c.8676T>A (p.Val2892=)
c.8655T>A (p.Val2885=)
n.15553T>A
5g.90810797T>CCA445468607ADGRV1c.15537T>C (p.Val5179=)
c.4491T>C (p.Val1497=)
n.2804T>C
c.265+134588T>C (n.265+134588T>C)
c.1947T>C (p.Val649=)
c.2520T>C (p.Val840=)
n.15550T>C
c.15534T>C (p.Val5178=)
c.15456T>C (p.Val5152=)
c.12840T>C (p.Val4280=)
c.15558T>C (p.Val5186=)
c.15555T>C (p.Val5185=)
c.15477T>C (p.Val5159=)
c.15462T>C (p.Val5154=)
c.15378T>C (p.Val5126=)
c.*491T>C (n.*491T>C)
c.8676T>C (p.Val2892=)
c.8655T>C (p.Val2885=)
n.15553T>C
5g.90810797T>GCA445468604ADGRV1c.15537T>G (p.Val5179=)
c.4491T>G (p.Val1497=)
n.2804T>G
c.265+134588T>G (n.265+134588T>G)
c.1947T>G (p.Val649=)
c.2520T>G (p.Val840=)
n.15550T>G
c.15534T>G (p.Val5178=)
c.15456T>G (p.Val5152=)
c.12840T>G (p.Val4280=)
c.15558T>G (p.Val5186=)
c.15555T>G (p.Val5185=)
c.15477T>G (p.Val5159=)
c.15462T>G (p.Val5154=)
c.15378T>G (p.Val5126=)
c.*491T>G (n.*491T>G)
c.8676T>G (p.Val2892=)
c.8655T>G (p.Val2885=)
n.15553T>G
5g.90810798A>CCA360409949ADGRV1c.15538A>C (p.Thr5180Pro)
c.4492A>C (p.Thr1498Pro)
n.2805A>C
c.265+134589A>C (n.265+134589A>C)
c.1948A>C (p.Thr650Pro)
c.2521A>C (p.Thr841Pro)
n.15551A>C
c.15535A>C (p.Thr5179Pro)
c.15457A>C (p.Thr5153Pro)
c.12841A>C (p.Thr4281Pro)
c.15559A>C (p.Thr5187Pro)
c.15556A>C (p.Thr5186Pro)
c.15478A>C (p.Thr5160Pro)
c.15463A>C (p.Thr5155Pro)
c.15379A>C (p.Thr5127Pro)
c.*492A>C (n.*492A>C)
c.8677A>C (p.Thr2893Pro)
c.8656A>C (p.Thr2886Pro)
n.15554A>C
5g.90810798A>GCA360409951ADGRV1c.15538A>G (p.Thr5180Ala)
c.4492A>G (p.Thr1498Ala)
n.2805A>G
c.265+134589A>G (n.265+134589A>G)
c.1948A>G (p.Thr650Ala)
c.2521A>G (p.Thr841Ala)
n.15551A>G
c.15535A>G (p.Thr5179Ala)
c.15457A>G (p.Thr5153Ala)
c.12841A>G (p.Thr4281Ala)
c.15559A>G (p.Thr5187Ala)
c.15556A>G (p.Thr5186Ala)
c.15478A>G (p.Thr5160Ala)
c.15463A>G (p.Thr5155Ala)
c.15379A>G (p.Thr5127Ala)
c.*492A>G (n.*492A>G)
c.8677A>G (p.Thr2893Ala)
c.8656A>G (p.Thr2886Ala)
n.15554A>G
5g.90810798A>TCA360409953ADGRV1c.15538A>T (p.Thr5180Ser)
c.4492A>T (p.Thr1498Ser)
n.2805A>T
c.265+134589A>T (n.265+134589A>T)
c.1948A>T (p.Thr650Ser)
c.2521A>T (p.Thr841Ser)
n.15551A>T
c.15535A>T (p.Thr5179Ser)
c.15457A>T (p.Thr5153Ser)
c.12841A>T (p.Thr4281Ser)
c.15559A>T (p.Thr5187Ser)
c.15556A>T (p.Thr5186Ser)
c.15478A>T (p.Thr5160Ser)
c.15463A>T (p.Thr5155Ser)
c.15379A>T (p.Thr5127Ser)
c.*492A>T (n.*492A>T)
c.8677A>T (p.Thr2893Ser)
c.8656A>T (p.Thr2886Ser)
n.15554A>T
5g.90810799C>ACA360409956ADGRV1c.15539C>A (p.Thr5180Asn)
c.4493C>A (p.Thr1498Asn)
n.2806C>A
c.265+134590C>A (n.265+134590C>A)
c.1949C>A (p.Thr650Asn)
c.2522C>A (p.Thr841Asn)
n.15552C>A
c.15536C>A (p.Thr5179Asn)
c.15458C>A (p.Thr5153Asn)
c.12842C>A (p.Thr4281Asn)
c.15560C>A (p.Thr5187Asn)
c.15557C>A (p.Thr5186Asn)
c.15479C>A (p.Thr5160Asn)
c.15464C>A (p.Thr5155Asn)
c.15380C>A (p.Thr5127Asn)
c.*493C>A (n.*493C>A)
c.8678C>A (p.Thr2893Asn)
c.8657C>A (p.Thr2886Asn)
n.15555C>A
5g.90810799C=CA1562911536ADGRV1c.15539C= (p.Thr5180=)
c.4493C= (p.Thr1498=)
n.2806C=
c.265+134590C= (n.265+134590C=)
c.1949C= (p.Thr650=)
c.2522C= (p.Thr841=)
n.15552C=
c.15536C= (p.Thr5179=)
c.15458C= (p.Thr5153=)
c.12842C= (p.Thr4281=)
c.15560C= (p.Thr5187=)
c.15557C= (p.Thr5186=)
c.15479C= (p.Thr5160=)
c.15464C= (p.Thr5155=)
c.15380C= (p.Thr5127=)
c.*493C= (n.*493C=)
c.8678C= (p.Thr2893=)
c.8657C= (p.Thr2886=)
n.15555C=
5g.90810799C>GCA360409958ADGRV1c.15539C>G (p.Thr5180Ser)
c.4493C>G (p.Thr1498Ser)
n.2806C>G
c.265+134590C>G (n.265+134590C>G)
c.1949C>G (p.Thr650Ser)
c.2522C>G (p.Thr841Ser)
n.15552C>G
c.15536C>G (p.Thr5179Ser)
c.15458C>G (p.Thr5153Ser)
c.12842C>G (p.Thr4281Ser)
c.15560C>G (p.Thr5187Ser)
c.15557C>G (p.Thr5186Ser)
c.15479C>G (p.Thr5160Ser)
c.15464C>G (p.Thr5155Ser)
c.15380C>G (p.Thr5127Ser)
c.*493C>G (n.*493C>G)
c.8678C>G (p.Thr2893Ser)
c.8657C>G (p.Thr2886Ser)
n.15555C>G
5g.90810799C>TCA360409960ADGRV1c.15539C>T (p.Thr5180Ile)
c.4493C>T (p.Thr1498Ile)
n.2806C>T
c.265+134590C>T (n.265+134590C>T)
c.1949C>T (p.Thr650Ile)
c.2522C>T (p.Thr841Ile)
n.15552C>T
c.15536C>T (p.Thr5179Ile)
c.15458C>T (p.Thr5153Ile)
c.12842C>T (p.Thr4281Ile)
c.15560C>T (p.Thr5187Ile)
c.15557C>T (p.Thr5186Ile)
c.15479C>T (p.Thr5160Ile)
c.15464C>T (p.Thr5155Ile)
c.15380C>T (p.Thr5127Ile)
c.*493C>T (n.*493C>T)
c.8678C>T (p.Thr2893Ile)
c.8657C>T (p.Thr2886Ile)
n.15555C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90810800T>ACA445467717ADGRV1c.15540T>A (p.Thr5180=)
c.4494T>A (p.Thr1498=)
n.2807T>A
c.265+134591T>A (n.265+134591T>A)
c.1950T>A (p.Thr650=)
c.2523T>A (p.Thr841=)
n.15553T>A
c.15537T>A (p.Thr5179=)
c.15459T>A (p.Thr5153=)
c.12843T>A (p.Thr4281=)
c.15561T>A (p.Thr5187=)
c.15558T>A (p.Thr5186=)
c.15480T>A (p.Thr5160=)
c.15465T>A (p.Thr5155=)
c.15381T>A (p.Thr5127=)
c.*494T>A (n.*494T>A)
c.8679T>A (p.Thr2893=)
c.8658T>A (p.Thr2886=)
n.15556T>A
5g.90810800T>CCA445467718ADGRV1c.15540T>C (p.Thr5180=)
c.4494T>C (p.Thr1498=)
n.2807T>C
c.265+134591T>C (n.265+134591T>C)
c.1950T>C (p.Thr650=)
c.2523T>C (p.Thr841=)
n.15553T>C
c.15537T>C (p.Thr5179=)
c.15459T>C (p.Thr5153=)
c.12843T>C (p.Thr4281=)
c.15561T>C (p.Thr5187=)
c.15558T>C (p.Thr5186=)
c.15480T>C (p.Thr5160=)
c.15465T>C (p.Thr5155=)
c.15381T>C (p.Thr5127=)
c.*494T>C (n.*494T>C)
c.8679T>C (p.Thr2893=)
c.8658T>C (p.Thr2886=)
n.15556T>C
5g.90810800T>GCA445467719ADGRV1c.15540T>G (p.Thr5180=)
c.4494T>G (p.Thr1498=)
n.2807T>G
c.265+134591T>G (n.265+134591T>G)
c.1950T>G (p.Thr650=)
c.2523T>G (p.Thr841=)
n.15553T>G
c.15537T>G (p.Thr5179=)
c.15459T>G (p.Thr5153=)
c.12843T>G (p.Thr4281=)
c.15561T>G (p.Thr5187=)
c.15558T>G (p.Thr5186=)
c.15480T>G (p.Thr5160=)
c.15465T>G (p.Thr5155=)
c.15381T>G (p.Thr5127=)
c.*494T>G (n.*494T>G)
c.8679T>G (p.Thr2893=)
c.8658T>G (p.Thr2886=)
n.15556T>G
5g.90810801G>ACA360409961ADGRV1c.15541G>A (p.Glu5181Lys)
c.4495G>A (p.Glu1499Lys)
n.2808G>A
c.265+134592G>A (n.265+134592G>A)
c.1951G>A (p.Glu651Lys)
c.2524G>A (p.Glu842Lys)
n.15554G>A
c.15538G>A (p.Glu5180Lys)
c.15460G>A (p.Glu5154Lys)
c.12844G>A (p.Glu4282Lys)
c.15562G>A (p.Glu5188Lys)
c.15559G>A (p.Glu5187Lys)
c.15481G>A (p.Glu5161Lys)
c.15466G>A (p.Glu5156Lys)
c.15382G>A (p.Glu5128Lys)
c.*495G>A (n.*495G>A)
c.8680G>A (p.Glu2894Lys)
c.8659G>A (p.Glu2887Lys)
n.15557G>A
5g.90810801G>CCA360409962ADGRV1c.15541G>C (p.Glu5181Gln)
c.4495G>C (p.Glu1499Gln)
n.2808G>C
c.265+134592G>C (n.265+134592G>C)
c.1951G>C (p.Glu651Gln)
c.2524G>C (p.Glu842Gln)
n.15554G>C
c.15538G>C (p.Glu5180Gln)
c.15460G>C (p.Glu5154Gln)
c.12844G>C (p.Glu4282Gln)
c.15562G>C (p.Glu5188Gln)
c.15559G>C (p.Glu5187Gln)
c.15481G>C (p.Glu5161Gln)
c.15466G>C (p.Glu5156Gln)
c.15382G>C (p.Glu5128Gln)
c.*495G>C (n.*495G>C)
c.8680G>C (p.Glu2894Gln)
c.8659G>C (p.Glu2887Gln)
n.15557G>C
5g.90810801G>TCA360409963ADGRV1c.15541G>T (p.Glu5181Ter)
c.4495G>T (p.Glu1499Ter)
n.2808G>T
c.265+134592G>T (n.265+134592G>T)
c.1951G>T (p.Glu651Ter)
c.2524G>T (p.Glu842Ter)
n.15554G>T
c.15538G>T (p.Glu5180Ter)
c.15460G>T (p.Glu5154Ter)
c.12844G>T (p.Glu4282Ter)
c.15562G>T (p.Glu5188Ter)
c.15559G>T (p.Glu5187Ter)
c.15481G>T (p.Glu5161Ter)
c.15466G>T (p.Glu5156Ter)
c.15382G>T (p.Glu5128Ter)
c.*495G>T (n.*495G>T)
c.8680G>T (p.Glu2894Ter)
c.8659G>T (p.Glu2887Ter)
n.15557G>T
5g.90810802A>CCA360409965ADGRV1c.15542A>C (p.Glu5181Ala)
c.4496A>C (p.Glu1499Ala)
n.2809A>C
c.265+134593A>C (n.265+134593A>C)
c.1952A>C (p.Glu651Ala)
c.2525A>C (p.Glu842Ala)
n.15555A>C
c.15539A>C (p.Glu5180Ala)
c.15461A>C (p.Glu5154Ala)
c.12845A>C (p.Glu4282Ala)
c.15563A>C (p.Glu5188Ala)
c.15560A>C (p.Glu5187Ala)
c.15482A>C (p.Glu5161Ala)
c.15467A>C (p.Glu5156Ala)
c.15383A>C (p.Glu5128Ala)
c.*496A>C (n.*496A>C)
c.8681A>C (p.Glu2894Ala)
c.8660A>C (p.Glu2887Ala)
n.15558A>C
5g.90810802A>GCA360409967ADGRV1c.15542A>G (p.Glu5181Gly)
c.4496A>G (p.Glu1499Gly)
n.2809A>G
c.265+134593A>G (n.265+134593A>G)
c.1952A>G (p.Glu651Gly)
c.2525A>G (p.Glu842Gly)
n.15555A>G
c.15539A>G (p.Glu5180Gly)
c.15461A>G (p.Glu5154Gly)
c.12845A>G (p.Glu4282Gly)
c.15563A>G (p.Glu5188Gly)
c.15560A>G (p.Glu5187Gly)
c.15482A>G (p.Glu5161Gly)
c.15467A>G (p.Glu5156Gly)
c.15383A>G (p.Glu5128Gly)
c.*496A>G (n.*496A>G)
c.8681A>G (p.Glu2894Gly)
c.8660A>G (p.Glu2887Gly)
n.15558A>G
5g.90810802A>TCA360409968ADGRV1c.15542A>T (p.Glu5181Val)
c.4496A>T (p.Glu1499Val)
n.2809A>T
c.265+134593A>T (n.265+134593A>T)
c.1952A>T (p.Glu651Val)
c.2525A>T (p.Glu842Val)
n.15555A>T
c.15539A>T (p.Glu5180Val)
c.15461A>T (p.Glu5154Val)
c.12845A>T (p.Glu4282Val)
c.15563A>T (p.Glu5188Val)
c.15560A>T (p.Glu5187Val)
c.15482A>T (p.Glu5161Val)
c.15467A>T (p.Glu5156Val)
c.15383A>T (p.Glu5128Val)
c.*496A>T (n.*496A>T)
c.8681A>T (p.Glu2894Val)
c.8660A>T (p.Glu2887Val)
n.15558A>T
5g.90810803G>ACA445467724ADGRV1c.15543G>A (p.Glu5181=)
c.4497G>A (p.Glu1499=)
n.2810G>A
c.265+134594G>A (n.265+134594G>A)
c.1953G>A (p.Glu651=)
c.2526G>A (p.Glu842=)
n.15556G>A
c.15540G>A (p.Glu5180=)
c.15462G>A (p.Glu5154=)
c.12846G>A (p.Glu4282=)
c.15564G>A (p.Glu5188=)
c.15561G>A (p.Glu5187=)
c.15483G>A (p.Glu5161=)
c.15468G>A (p.Glu5156=)
c.15384G>A (p.Glu5128=)
c.*497G>A (n.*497G>A)
c.8682G>A (p.Glu2894=)
c.8661G>A (p.Glu2887=)
n.15559G>A
5g.90810803G>CCA360409969ADGRV1c.15543G>C (p.Glu5181Asp)
c.4497G>C (p.Glu1499Asp)
n.2810G>C
c.265+134594G>C (n.265+134594G>C)
c.1953G>C (p.Glu651Asp)
c.2526G>C (p.Glu842Asp)
n.15556G>C
c.15540G>C (p.Glu5180Asp)
c.15462G>C (p.Glu5154Asp)
c.12846G>C (p.Glu4282Asp)
c.15564G>C (p.Glu5188Asp)
c.15561G>C (p.Glu5187Asp)
c.15483G>C (p.Glu5161Asp)
c.15468G>C (p.Glu5156Asp)
c.15384G>C (p.Glu5128Asp)
c.*497G>C (n.*497G>C)
c.8682G>C (p.Glu2894Asp)
c.8661G>C (p.Glu2887Asp)
n.15559G>C
5g.90810803G>TCA360409971ADGRV1c.15543G>T (p.Glu5181Asp)
c.4497G>T (p.Glu1499Asp)
n.2810G>T
c.265+134594G>T (n.265+134594G>T)
c.1953G>T (p.Glu651Asp)
c.2526G>T (p.Glu842Asp)
n.15556G>T
c.15540G>T (p.Glu5180Asp)
c.15462G>T (p.Glu5154Asp)
c.12846G>T (p.Glu4282Asp)
c.15564G>T (p.Glu5188Asp)
c.15561G>T (p.Glu5187Asp)
c.15483G>T (p.Glu5161Asp)
c.15468G>T (p.Glu5156Asp)
c.15384G>T (p.Glu5128Asp)
c.*497G>T (n.*497G>T)
c.8682G>T (p.Glu2894Asp)
c.8661G>T (p.Glu2887Asp)
n.15559G>T
5g.90810804G>ACA360409974ADGRV1c.15544G>A (p.Ala5182Thr)
c.4498G>A (p.Ala1500Thr)
n.2811G>A
c.265+134595G>A (n.265+134595G>A)
c.1954G>A (p.Ala652Thr)
c.2527G>A (p.Ala843Thr)
n.15557G>A
c.15541G>A (p.Ala5181Thr)
c.15463G>A (p.Ala5155Thr)
c.12847G>A (p.Ala4283Thr)
c.15565G>A (p.Ala5189Thr)
c.15562G>A (p.Ala5188Thr)
c.15484G>A (p.Ala5162Thr)
c.15469G>A (p.Ala5157Thr)
c.15385G>A (p.Ala5129Thr)
c.*498G>A (n.*498G>A)
c.8683G>A (p.Ala2895Thr)
c.8662G>A (p.Ala2888Thr)
n.15560G>A
5g.90810804G>CCA360409976ADGRV1c.15544G>C (p.Ala5182Pro)
c.4498G>C (p.Ala1500Pro)
n.2811G>C
c.265+134595G>C (n.265+134595G>C)
c.1954G>C (p.Ala652Pro)
c.2527G>C (p.Ala843Pro)
n.15557G>C
c.15541G>C (p.Ala5181Pro)
c.15463G>C (p.Ala5155Pro)
c.12847G>C (p.Ala4283Pro)
c.15565G>C (p.Ala5189Pro)
c.15562G>C (p.Ala5188Pro)
c.15484G>C (p.Ala5162Pro)
c.15469G>C (p.Ala5157Pro)
c.15385G>C (p.Ala5129Pro)
c.*498G>C (n.*498G>C)
c.8683G>C (p.Ala2895Pro)
c.8662G>C (p.Ala2888Pro)
n.15560G>C
5g.90810804G>TCA360409978ADGRV1c.15544G>T (p.Ala5182Ser)
c.4498G>T (p.Ala1500Ser)
n.2811G>T
c.265+134595G>T (n.265+134595G>T)
c.1954G>T (p.Ala652Ser)
c.2527G>T (p.Ala843Ser)
n.15557G>T
c.15541G>T (p.Ala5181Ser)
c.15463G>T (p.Ala5155Ser)
c.12847G>T (p.Ala4283Ser)
c.15565G>T (p.Ala5189Ser)
c.15562G>T (p.Ala5188Ser)
c.15484G>T (p.Ala5162Ser)
c.15469G>T (p.Ala5157Ser)
c.15385G>T (p.Ala5129Ser)
c.*498G>T (n.*498G>T)
c.8683G>T (p.Ala2895Ser)
c.8662G>T (p.Ala2888Ser)
n.15560G>T
5g.90810805C>ACA360409979ADGRV1c.15545C>A (p.Ala5182Glu)
c.4499C>A (p.Ala1500Glu)
n.2812C>A
c.265+134596C>A (n.265+134596C>A)
c.1955C>A (p.Ala652Glu)
c.2528C>A (p.Ala843Glu)
n.15558C>A
c.15542C>A (p.Ala5181Glu)
c.15464C>A (p.Ala5155Glu)
c.12848C>A (p.Ala4283Glu)
c.15566C>A (p.Ala5189Glu)
c.15563C>A (p.Ala5188Glu)
c.15485C>A (p.Ala5162Glu)
c.15470C>A (p.Ala5157Glu)
c.15386C>A (p.Ala5129Glu)
c.*499C>A (n.*499C>A)
c.8684C>A (p.Ala2895Glu)
c.8663C>A (p.Ala2888Glu)
n.15561C>A
5g.90810805C>GCA360409981ADGRV1c.15545C>G (p.Ala5182Gly)
c.4499C>G (p.Ala1500Gly)
n.2812C>G
c.265+134596C>G (n.265+134596C>G)
c.1955C>G (p.Ala652Gly)
c.2528C>G (p.Ala843Gly)
n.15558C>G
c.15542C>G (p.Ala5181Gly)
c.15464C>G (p.Ala5155Gly)
c.12848C>G (p.Ala4283Gly)
c.15566C>G (p.Ala5189Gly)
c.15563C>G (p.Ala5188Gly)
c.15485C>G (p.Ala5162Gly)
c.15470C>G (p.Ala5157Gly)
c.15386C>G (p.Ala5129Gly)
c.*499C>G (n.*499C>G)
c.8684C>G (p.Ala2895Gly)
c.8663C>G (p.Ala2888Gly)
n.15561C>G
5g.90810805C>TCA360409983ADGRV1c.15545C>T (p.Ala5182Val)
c.4499C>T (p.Ala1500Val)
n.2812C>T
c.265+134596C>T (n.265+134596C>T)
c.1955C>T (p.Ala652Val)
c.2528C>T (p.Ala843Val)
n.15558C>T
c.15542C>T (p.Ala5181Val)
c.15464C>T (p.Ala5155Val)
c.12848C>T (p.Ala4283Val)
c.15566C>T (p.Ala5189Val)
c.15563C>T (p.Ala5188Val)
c.15485C>T (p.Ala5162Val)
c.15470C>T (p.Ala5157Val)
c.15386C>T (p.Ala5129Val)
c.*499C>T (n.*499C>T)
c.8684C>T (p.Ala2895Val)
c.8663C>T (p.Ala2888Val)
n.15561C>T
5g.90810806A>CCA445467725ADGRV1c.15546A>C (p.Ala5182=)
c.4500A>C (p.Ala1500=)
n.2813A>C
c.265+134597A>C (n.265+134597A>C)
c.1956A>C (p.Ala652=)
c.2529A>C (p.Ala843=)
n.15559A>C
c.15543A>C (p.Ala5181=)
c.15465A>C (p.Ala5155=)
c.12849A>C (p.Ala4283=)
c.15567A>C (p.Ala5189=)
c.15564A>C (p.Ala5188=)
c.15486A>C (p.Ala5162=)
c.15471A>C (p.Ala5157=)
c.15387A>C (p.Ala5129=)
c.*500A>C (n.*500A>C)
c.8685A>C (p.Ala2895=)
c.8664A>C (p.Ala2888=)
n.15562A>C
5g.90810806A>GCA445467726ADGRV1c.15546A>G (p.Ala5182=)
c.4500A>G (p.Ala1500=)
n.2813A>G
c.265+134597A>G (n.265+134597A>G)
c.1956A>G (p.Ala652=)
c.2529A>G (p.Ala843=)
n.15559A>G
c.15543A>G (p.Ala5181=)
c.15465A>G (p.Ala5155=)
c.12849A>G (p.Ala4283=)
c.15567A>G (p.Ala5189=)
c.15564A>G (p.Ala5188=)
c.15486A>G (p.Ala5162=)
c.15471A>G (p.Ala5157=)
c.15387A>G (p.Ala5129=)
c.*500A>G (n.*500A>G)
c.8685A>G (p.Ala2895=)
c.8664A>G (p.Ala2888=)
n.15562A>G
5g.90810806A>TCA445467727ADGRV1c.15546A>T (p.Ala5182=)
c.4500A>T (p.Ala1500=)
n.2813A>T
c.265+134597A>T (n.265+134597A>T)
c.1956A>T (p.Ala652=)
c.2529A>T (p.Ala843=)
n.15559A>T
c.15543A>T (p.Ala5181=)
c.15465A>T (p.Ala5155=)
c.12849A>T (p.Ala4283=)
c.15567A>T (p.Ala5189=)
c.15564A>T (p.Ala5188=)
c.15486A>T (p.Ala5162=)
c.15471A>T (p.Ala5157=)
c.15387A>T (p.Ala5129=)
c.*500A>T (n.*500A>T)
c.8685A>T (p.Ala2895=)
c.8664A>T (p.Ala2888=)
n.15562A>T
5g.90810807A>CCA360409985ADGRV1c.15547A>C (p.Thr5183Pro)
c.4501A>C (p.Thr1501Pro)
n.2814A>C
c.265+134598A>C (n.265+134598A>C)
c.1957A>C (p.Thr653Pro)
c.2530A>C (p.Thr844Pro)
n.15560A>C
c.15544A>C (p.Thr5182Pro)
c.15466A>C (p.Thr5156Pro)
c.12850A>C (p.Thr4284Pro)
c.15568A>C (p.Thr5190Pro)
c.15565A>C (p.Thr5189Pro)
c.15487A>C (p.Thr5163Pro)
c.15472A>C (p.Thr5158Pro)
c.15388A>C (p.Thr5130Pro)
c.*501A>C (n.*501A>C)
c.8686A>C (p.Thr2896Pro)
c.8665A>C (p.Thr2889Pro)
n.15563A>C
5g.90810807A>GCA360409986ADGRV1c.15547A>G (p.Thr5183Ala)
c.4501A>G (p.Thr1501Ala)
n.2814A>G
c.265+134598A>G (n.265+134598A>G)
c.1957A>G (p.Thr653Ala)
c.2530A>G (p.Thr844Ala)
n.15560A>G
c.15544A>G (p.Thr5182Ala)
c.15466A>G (p.Thr5156Ala)
c.12850A>G (p.Thr4284Ala)
c.15568A>G (p.Thr5190Ala)
c.15565A>G (p.Thr5189Ala)
c.15487A>G (p.Thr5163Ala)
c.15472A>G (p.Thr5158Ala)
c.15388A>G (p.Thr5130Ala)
c.*501A>G (n.*501A>G)
c.8686A>G (p.Thr2896Ala)
c.8665A>G (p.Thr2889Ala)
n.15563A>G
 gnomAD v4
5g.90810807A>TCA360409989ADGRV1c.15547A>T (p.Thr5183Ser)
c.4501A>T (p.Thr1501Ser)
n.2814A>T
c.265+134598A>T (n.265+134598A>T)
c.1957A>T (p.Thr653Ser)
c.2530A>T (p.Thr844Ser)
n.15560A>T
c.15544A>T (p.Thr5182Ser)
c.15466A>T (p.Thr5156Ser)
c.12850A>T (p.Thr4284Ser)
c.15568A>T (p.Thr5190Ser)
c.15565A>T (p.Thr5189Ser)
c.15487A>T (p.Thr5163Ser)
c.15472A>T (p.Thr5158Ser)
c.15388A>T (p.Thr5130Ser)
c.*501A>T (n.*501A>T)
c.8686A>T (p.Thr2896Ser)
c.8665A>T (p.Thr2889Ser)
n.15563A>T
5g.90810808C>ACA360409991ADGRV1c.15548C>A (p.Thr5183Asn)
c.4502C>A (p.Thr1501Asn)
n.2815C>A
c.265+134599C>A (n.265+134599C>A)
c.1958C>A (p.Thr653Asn)
c.2531C>A (p.Thr844Asn)
n.15561C>A
c.15545C>A (p.Thr5182Asn)
c.15467C>A (p.Thr5156Asn)
c.12851C>A (p.Thr4284Asn)
c.15569C>A (p.Thr5190Asn)
c.15566C>A (p.Thr5189Asn)
c.15488C>A (p.Thr5163Asn)
c.15473C>A (p.Thr5158Asn)
c.15389C>A (p.Thr5130Asn)
c.*502C>A (n.*502C>A)
c.8687C>A (p.Thr2896Asn)
c.8666C>A (p.Thr2889Asn)
n.15564C>A
 gnomAD v4
5g.90810808C>GCA360409993ADGRV1c.15548C>G (p.Thr5183Ser)
c.4502C>G (p.Thr1501Ser)
n.2815C>G
c.265+134599C>G (n.265+134599C>G)
c.1958C>G (p.Thr653Ser)
c.2531C>G (p.Thr844Ser)
n.15561C>G
c.15545C>G (p.Thr5182Ser)
c.15467C>G (p.Thr5156Ser)
c.12851C>G (p.Thr4284Ser)
c.15569C>G (p.Thr5190Ser)
c.15566C>G (p.Thr5189Ser)
c.15488C>G (p.Thr5163Ser)
c.15473C>G (p.Thr5158Ser)
c.15389C>G (p.Thr5130Ser)
c.*502C>G (n.*502C>G)
c.8687C>G (p.Thr2896Ser)
c.8666C>G (p.Thr2889Ser)
n.15564C>G
5g.90810808C>TCA360409995ADGRV1c.15548C>T (p.Thr5183Ile)
c.4502C>T (p.Thr1501Ile)
n.2815C>T
c.265+134599C>T (n.265+134599C>T)
c.1958C>T (p.Thr653Ile)
c.2531C>T (p.Thr844Ile)
n.15561C>T
c.15545C>T (p.Thr5182Ile)
c.15467C>T (p.Thr5156Ile)
c.12851C>T (p.Thr4284Ile)
c.15569C>T (p.Thr5190Ile)
c.15566C>T (p.Thr5189Ile)
c.15488C>T (p.Thr5163Ile)
c.15473C>T (p.Thr5158Ile)
c.15389C>T (p.Thr5130Ile)
c.*502C>T (n.*502C>T)
c.8687C>T (p.Thr2896Ile)
c.8666C>T (p.Thr2889Ile)
n.15564C>T
 gnomAD v4
5g.90810809T>ACA445467729ADGRV1c.15549T>A (p.Thr5183=)
c.4503T>A (p.Thr1501=)
n.2816T>A
c.265+134600T>A (n.265+134600T>A)
c.1959T>A (p.Thr653=)
c.2532T>A (p.Thr844=)
n.15562T>A
c.15546T>A (p.Thr5182=)
c.15468T>A (p.Thr5156=)
c.12852T>A (p.Thr4284=)
c.15570T>A (p.Thr5190=)
c.15567T>A (p.Thr5189=)
c.15489T>A (p.Thr5163=)
c.15474T>A (p.Thr5158=)
c.15390T>A (p.Thr5130=)
c.*503T>A (n.*503T>A)
c.8688T>A (p.Thr2896=)
c.8667T>A (p.Thr2889=)
n.15565T>A
5g.90810809T>CCA445467730ADGRV1c.15549T>C (p.Thr5183=)
c.4503T>C (p.Thr1501=)
n.2816T>C
c.265+134600T>C (n.265+134600T>C)
c.1959T>C (p.Thr653=)
c.2532T>C (p.Thr844=)
n.15562T>C
c.15546T>C (p.Thr5182=)
c.15468T>C (p.Thr5156=)
c.12852T>C (p.Thr4284=)
c.15570T>C (p.Thr5190=)
c.15567T>C (p.Thr5189=)
c.15489T>C (p.Thr5163=)
c.15474T>C (p.Thr5158=)
c.15390T>C (p.Thr5130=)
c.*503T>C (n.*503T>C)
c.8688T>C (p.Thr2896=)
c.8667T>C (p.Thr2889=)
n.15565T>C
 gnomAD v4
5g.90810809T>GCA445467731ADGRV1c.15549T>G (p.Thr5183=)
c.4503T>G (p.Thr1501=)
n.2816T>G
c.265+134600T>G (n.265+134600T>G)
c.1959T>G (p.Thr653=)
c.2532T>G (p.Thr844=)
n.15562T>G
c.15546T>G (p.Thr5182=)
c.15468T>G (p.Thr5156=)
c.12852T>G (p.Thr4284=)
c.15570T>G (p.Thr5190=)
c.15567T>G (p.Thr5189=)
c.15489T>G (p.Thr5163=)
c.15474T>G (p.Thr5158=)
c.15390T>G (p.Thr5130=)
c.*503T>G (n.*503T>G)
c.8688T>G (p.Thr2896=)
c.8667T>G (p.Thr2889=)
n.15565T>G
5g.90810810G>ACA360410002ADGRV1c.15550G>A (p.Gly5184Ser)
c.4504G>A (p.Gly1502Ser)
n.2817G>A
c.265+134601G>A (n.265+134601G>A)
c.1960G>A (p.Gly654Ser)
c.2533G>A (p.Gly845Ser)
n.15563G>A
c.15547G>A (p.Gly5183Ser)
c.15469G>A (p.Gly5157Ser)
c.12853G>A (p.Gly4285Ser)
c.15571G>A (p.Gly5191Ser)
c.15568G>A (p.Gly5190Ser)
c.15490G>A (p.Gly5164Ser)
c.15475G>A (p.Gly5159Ser)
c.15391G>A (p.Gly5131Ser)
c.*504G>A (n.*504G>A)
c.8689G>A (p.Gly2897Ser)
c.8668G>A (p.Gly2890Ser)
n.15566G>A
 gnomAD v4
5g.90810810G>CCA360409998ADGRV1c.15550G>C (p.Gly5184Arg)
c.4504G>C (p.Gly1502Arg)
n.2817G>C
c.265+134601G>C (n.265+134601G>C)
c.1960G>C (p.Gly654Arg)
c.2533G>C (p.Gly845Arg)
n.15563G>C
c.15547G>C (p.Gly5183Arg)
c.15469G>C (p.Gly5157Arg)
c.12853G>C (p.Gly4285Arg)
c.15571G>C (p.Gly5191Arg)
c.15568G>C (p.Gly5190Arg)
c.15490G>C (p.Gly5164Arg)
c.15475G>C (p.Gly5159Arg)
c.15391G>C (p.Gly5131Arg)
c.*504G>C (n.*504G>C)
c.8689G>C (p.Gly2897Arg)
c.8668G>C (p.Gly2890Arg)
n.15566G>C
5g.90810810G>TCA360410000ADGRV1c.15550G>T (p.Gly5184Cys)
c.4504G>T (p.Gly1502Cys)
n.2817G>T
c.265+134601G>T (n.265+134601G>T)
c.1960G>T (p.Gly654Cys)
c.2533G>T (p.Gly845Cys)
n.15563G>T
c.15547G>T (p.Gly5183Cys)
c.15469G>T (p.Gly5157Cys)
c.12853G>T (p.Gly4285Cys)
c.15571G>T (p.Gly5191Cys)
c.15568G>T (p.Gly5190Cys)
c.15490G>T (p.Gly5164Cys)
c.15475G>T (p.Gly5159Cys)
c.15391G>T (p.Gly5131Cys)
c.*504G>T (n.*504G>T)
c.8689G>T (p.Gly2897Cys)
c.8668G>T (p.Gly2890Cys)
n.15566G>T
5g.90810811G>ACA360410003ADGRV1c.15551G>A (p.Gly5184Asp)
c.4505G>A (p.Gly1502Asp)
n.2818G>A
c.265+134602G>A (n.265+134602G>A)
c.1961G>A (p.Gly654Asp)
c.2534G>A (p.Gly845Asp)
n.15564G>A
c.15548G>A (p.Gly5183Asp)
c.15470G>A (p.Gly5157Asp)
c.12854G>A (p.Gly4285Asp)
c.15572G>A (p.Gly5191Asp)
c.15569G>A (p.Gly5190Asp)
c.15491G>A (p.Gly5164Asp)
c.15476G>A (p.Gly5159Asp)
c.15392G>A (p.Gly5131Asp)
c.*505G>A (n.*505G>A)
c.8690G>A (p.Gly2897Asp)
c.8669G>A (p.Gly2890Asp)
n.15567G>A
5g.90810811G>CCA360410004ADGRV1c.15551G>C (p.Gly5184Ala)
c.4505G>C (p.Gly1502Ala)
n.2818G>C
c.265+134602G>C (n.265+134602G>C)
c.1961G>C (p.Gly654Ala)
c.2534G>C (p.Gly845Ala)
n.15564G>C
c.15548G>C (p.Gly5183Ala)
c.15470G>C (p.Gly5157Ala)
c.12854G>C (p.Gly4285Ala)
c.15572G>C (p.Gly5191Ala)
c.15569G>C (p.Gly5190Ala)
c.15491G>C (p.Gly5164Ala)
c.15476G>C (p.Gly5159Ala)
c.15392G>C (p.Gly5131Ala)
c.*505G>C (n.*505G>C)
c.8690G>C (p.Gly2897Ala)
c.8669G>C (p.Gly2890Ala)
n.15567G>C
5g.90810811G>TCA360410006ADGRV1c.15551G>T (p.Gly5184Val)
c.4505G>T (p.Gly1502Val)
n.2818G>T
c.265+134602G>T (n.265+134602G>T)
c.1961G>T (p.Gly654Val)
c.2534G>T (p.Gly845Val)
n.15564G>T
c.15548G>T (p.Gly5183Val)
c.15470G>T (p.Gly5157Val)
c.12854G>T (p.Gly4285Val)
c.15572G>T (p.Gly5191Val)
c.15569G>T (p.Gly5190Val)
c.15491G>T (p.Gly5164Val)
c.15476G>T (p.Gly5159Val)
c.15392G>T (p.Gly5131Val)
c.*505G>T (n.*505G>T)
c.8690G>T (p.Gly2897Val)
c.8669G>T (p.Gly2890Val)
n.15567G>T
 gnomAD v4
5g.90810812T>ACA445467734ADGRV1c.15552T>A (p.Gly5184=)
c.4506T>A (p.Gly1502=)
n.2819T>A
c.265+134603T>A (n.265+134603T>A)
c.1962T>A (p.Gly654=)
c.2535T>A (p.Gly845=)
n.15565T>A
c.15549T>A (p.Gly5183=)
c.15471T>A (p.Gly5157=)
c.12855T>A (p.Gly4285=)
c.15573T>A (p.Gly5191=)
c.15570T>A (p.Gly5190=)
c.15492T>A (p.Gly5164=)
c.15477T>A (p.Gly5159=)
c.15393T>A (p.Gly5131=)
c.*506T>A (n.*506T>A)
c.8691T>A (p.Gly2897=)
c.8670T>A (p.Gly2890=)
n.15568T>A
5g.90810812T>CCA445467736ADGRV1c.15552T>C (p.Gly5184=)
c.4506T>C (p.Gly1502=)
n.2819T>C
c.265+134603T>C (n.265+134603T>C)
c.1962T>C (p.Gly654=)
c.2535T>C (p.Gly845=)
n.15565T>C
c.15549T>C (p.Gly5183=)
c.15471T>C (p.Gly5157=)
c.12855T>C (p.Gly4285=)
c.15573T>C (p.Gly5191=)
c.15570T>C (p.Gly5190=)
c.15492T>C (p.Gly5164=)
c.15477T>C (p.Gly5159=)
c.15393T>C (p.Gly5131=)
c.*506T>C (n.*506T>C)
c.8691T>C (p.Gly2897=)
c.8670T>C (p.Gly2890=)
n.15568T>C
5g.90810812T>GCA445467737ADGRV1c.15552T>G (p.Gly5184=)
c.4506T>G (p.Gly1502=)
n.2819T>G
c.265+134603T>G (n.265+134603T>G)
c.1962T>G (p.Gly654=)
c.2535T>G (p.Gly845=)
n.15565T>G
c.15549T>G (p.Gly5183=)
c.15471T>G (p.Gly5157=)
c.12855T>G (p.Gly4285=)
c.15573T>G (p.Gly5191=)
c.15570T>G (p.Gly5190=)
c.15492T>G (p.Gly5164=)
c.15477T>G (p.Gly5159=)
c.15393T>G (p.Gly5131=)
c.*506T>G (n.*506T>G)
c.8691T>G (p.Gly2897=)
c.8670T>G (p.Gly2890=)
n.15568T>G
5g.90810813G>ACA3341943ADGRV1c.15553G>A (p.Val5185Ile)
c.4507G>A (p.Val1503Ile)
n.2820G>A
c.265+134604G>A (n.265+134604G>A)
c.1963G>A (p.Val655Ile)
c.2536G>A (p.Val846Ile)
n.15566G>A
c.15550G>A (p.Val5184Ile)
c.15472G>A (p.Val5158Ile)
c.12856G>A (p.Val4286Ile)
c.15574G>A (p.Val5192Ile)
c.15571G>A (p.Val5191Ile)
c.15493G>A (p.Val5165Ile)
c.15478G>A (p.Val5160Ile)
c.15394G>A (p.Val5132Ile)
c.*507G>A (n.*507G>A)
c.8692G>A (p.Val2898Ile)
c.8671G>A (p.Val2891Ile)
n.15569G>A
 dbSNP ExAC gnomAD v2
5g.90810813G>CCA360410009ADGRV1c.15553G>C (p.Val5185Leu)
c.4507G>C (p.Val1503Leu)
n.2820G>C
c.265+134604G>C (n.265+134604G>C)
c.1963G>C (p.Val655Leu)
c.2536G>C (p.Val846Leu)
n.15566G>C
c.15550G>C (p.Val5184Leu)
c.15472G>C (p.Val5158Leu)
c.12856G>C (p.Val4286Leu)
c.15574G>C (p.Val5192Leu)
c.15571G>C (p.Val5191Leu)
c.15493G>C (p.Val5165Leu)
c.15478G>C (p.Val5160Leu)
c.15394G>C (p.Val5132Leu)
c.*507G>C (n.*507G>C)
c.8692G>C (p.Val2898Leu)
c.8671G>C (p.Val2891Leu)
n.15569G>C
 dbSNP gnomAD v2 gnomAD v4
5g.90810813G=CA1562911537ADGRV1c.15553G= (p.Val5185=)
c.4507G= (p.Val1503=)
n.2820G=
c.265+134604G= (n.265+134604G=)
c.1963G= (p.Val655=)
c.2536G= (p.Val846=)
n.15566G=
c.15550G= (p.Val5184=)
c.15472G= (p.Val5158=)
c.12856G= (p.Val4286=)
c.15574G= (p.Val5192=)
c.15571G= (p.Val5191=)
c.15493G= (p.Val5165=)
c.15478G= (p.Val5160=)
c.15394G= (p.Val5132=)
c.*507G= (n.*507G=)
c.8692G= (p.Val2898=)
c.8671G= (p.Val2891=)
n.15569G=
5g.90810813G>TCA360410012ADGRV1c.15553G>T (p.Val5185Leu)
c.4507G>T (p.Val1503Leu)
n.2820G>T
c.265+134604G>T (n.265+134604G>T)
c.1963G>T (p.Val655Leu)
c.2536G>T (p.Val846Leu)
n.15566G>T
c.15550G>T (p.Val5184Leu)
c.15472G>T (p.Val5158Leu)
c.12856G>T (p.Val4286Leu)
c.15574G>T (p.Val5192Leu)
c.15571G>T (p.Val5191Leu)
c.15493G>T (p.Val5165Leu)
c.15478G>T (p.Val5160Leu)
c.15394G>T (p.Val5132Leu)
c.*507G>T (n.*507G>T)
c.8692G>T (p.Val2898Leu)
c.8671G>T (p.Val2891Leu)
n.15569G>T
 dbSNP gnomAD v2 gnomAD v4
5g.90810814T>ACA360410014ADGRV1c.15554T>A (p.Val5185Glu)
c.4508T>A (p.Val1503Glu)
n.2821T>A
c.265+134605T>A (n.265+134605T>A)
c.1964T>A (p.Val655Glu)
c.2537T>A (p.Val846Glu)
n.15567T>A
c.15551T>A (p.Val5184Glu)
c.15473T>A (p.Val5158Glu)
c.12857T>A (p.Val4286Glu)
c.15575T>A (p.Val5192Glu)
c.15572T>A (p.Val5191Glu)
c.15494T>A (p.Val5165Glu)
c.15479T>A (p.Val5160Glu)
c.15395T>A (p.Val5132Glu)
c.*508T>A (n.*508T>A)
c.8693T>A (p.Val2898Glu)
c.8672T>A (p.Val2891Glu)
n.15570T>A
5g.90810814T>CCA360410015ADGRV1c.15554T>C (p.Val5185Ala)
c.4508T>C (p.Val1503Ala)
n.2821T>C
c.265+134605T>C (n.265+134605T>C)
c.1964T>C (p.Val655Ala)
c.2537T>C (p.Val846Ala)
n.15567T>C
c.15551T>C (p.Val5184Ala)
c.15473T>C (p.Val5158Ala)
c.12857T>C (p.Val4286Ala)
c.15575T>C (p.Val5192Ala)
c.15572T>C (p.Val5191Ala)
c.15494T>C (p.Val5165Ala)
c.15479T>C (p.Val5160Ala)
c.15395T>C (p.Val5132Ala)
c.*508T>C (n.*508T>C)
c.8693T>C (p.Val2898Ala)
c.8672T>C (p.Val2891Ala)
n.15570T>C
5g.90810814T>GCA360410017ADGRV1c.15554T>G (p.Val5185Gly)
c.4508T>G (p.Val1503Gly)
n.2821T>G
c.265+134605T>G (n.265+134605T>G)
c.1964T>G (p.Val655Gly)
c.2537T>G (p.Val846Gly)
n.15567T>G
c.15551T>G (p.Val5184Gly)
c.15473T>G (p.Val5158Gly)
c.12857T>G (p.Val4286Gly)
c.15575T>G (p.Val5192Gly)
c.15572T>G (p.Val5191Gly)
c.15494T>G (p.Val5165Gly)
c.15479T>G (p.Val5160Gly)
c.15395T>G (p.Val5132Gly)
c.*508T>G (n.*508T>G)
c.8693T>G (p.Val2898Gly)
c.8672T>G (p.Val2891Gly)
n.15570T>G
 dbSNP gnomAD v2
5g.90810814T=CA1562911538ADGRV1c.15554T= (p.Val5185=)
c.4508T= (p.Val1503=)
n.2821T=
c.265+134605T= (n.265+134605T=)
c.1964T= (p.Val655=)
c.2537T= (p.Val846=)
n.15567T=
c.15551T= (p.Val5184=)
c.15473T= (p.Val5158=)
c.12857T= (p.Val4286=)
c.15575T= (p.Val5192=)
c.15572T= (p.Val5191=)
c.15494T= (p.Val5165=)
c.15479T= (p.Val5160=)
c.15395T= (p.Val5132=)
c.*508T= (n.*508T=)
c.8693T= (p.Val2898=)
c.8672T= (p.Val2891=)
n.15570T=
5g.90810815A=CA1562911539ADGRV1c.15555A= (p.Val5185=)
c.4509A= (p.Val1503=)
n.2822A=
c.265+134606A= (n.265+134606A=)
c.1965A= (p.Val655=)
c.2538A= (p.Val846=)
n.15568A=
c.15552A= (p.Val5184=)
c.15474A= (p.Val5158=)
c.12858A= (p.Val4286=)
c.15576A= (p.Val5192=)
c.15573A= (p.Val5191=)
c.15495A= (p.Val5165=)
c.15480A= (p.Val5160=)
c.15396A= (p.Val5132=)
c.*509A= (n.*509A=)
c.8694A= (p.Val2898=)
c.8673A= (p.Val2891=)
n.15571A=
5g.90810815A>CCA445467740ADGRV1c.15555A>C (p.Val5185=)
c.4509A>C (p.Val1503=)
n.2822A>C
c.265+134606A>C (n.265+134606A>C)
c.1965A>C (p.Val655=)
c.2538A>C (p.Val846=)
n.15568A>C
c.15552A>C (p.Val5184=)
c.15474A>C (p.Val5158=)
c.12858A>C (p.Val4286=)
c.15576A>C (p.Val5192=)
c.15573A>C (p.Val5191=)
c.15495A>C (p.Val5165=)
c.15480A>C (p.Val5160=)
c.15396A>C (p.Val5132=)
c.*509A>C (n.*509A>C)
c.8694A>C (p.Val2898=)
c.8673A>C (p.Val2891=)
n.15571A>C
5g.90810815A>GCA445467742ADGRV1c.15555A>G (p.Val5185=)
c.4509A>G (p.Val1503=)
n.2822A>G
c.265+134606A>G (n.265+134606A>G)
c.1965A>G (p.Val655=)
c.2538A>G (p.Val846=)
n.15568A>G
c.15552A>G (p.Val5184=)
c.15474A>G (p.Val5158=)
c.12858A>G (p.Val4286=)
c.15576A>G (p.Val5192=)
c.15573A>G (p.Val5191=)
c.15495A>G (p.Val5165=)
c.15480A>G (p.Val5160=)
c.15396A>G (p.Val5132=)
c.*509A>G (n.*509A>G)
c.8694A>G (p.Val2898=)
c.8673A>G (p.Val2891=)
n.15571A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90810815A>TCA445467743ADGRV1c.15555A>T (p.Val5185=)
c.4509A>T (p.Val1503=)
n.2822A>T
c.265+134606A>T (n.265+134606A>T)
c.1965A>T (p.Val655=)
c.2538A>T (p.Val846=)
n.15568A>T
c.15552A>T (p.Val5184=)
c.15474A>T (p.Val5158=)
c.12858A>T (p.Val4286=)
c.15576A>T (p.Val5192=)
c.15573A>T (p.Val5191=)
c.15495A>T (p.Val5165=)
c.15480A>T (p.Val5160=)
c.15396A>T (p.Val5132=)
c.*509A>T (n.*509A>T)
c.8694A>T (p.Val2898=)
c.8673A>T (p.Val2891=)
n.15571A>T
5g.90810816T>ACA360410018ADGRV1c.15556T>A (p.Ser5186Thr)
c.4510T>A (p.Ser1504Thr)
n.2823T>A
c.265+134607T>A (n.265+134607T>A)
c.1966T>A (p.Ser656Thr)
c.2539T>A (p.Ser847Thr)
n.15569T>A
c.15553T>A (p.Ser5185Thr)
c.15475T>A (p.Ser5159Thr)
c.12859T>A (p.Ser4287Thr)
c.15577T>A (p.Ser5193Thr)
c.15574T>A (p.Ser5192Thr)
c.15496T>A (p.Ser5166Thr)
c.15481T>A (p.Ser5161Thr)
c.15397T>A (p.Ser5133Thr)
c.*510T>A (n.*510T>A)
c.8695T>A (p.Ser2899Thr)
c.8674T>A (p.Ser2892Thr)
n.15572T>A
5g.90810816T>CCA360410019ADGRV1c.15556T>C (p.Ser5186Pro)
c.4510T>C (p.Ser1504Pro)
n.2823T>C
c.265+134607T>C (n.265+134607T>C)
c.1966T>C (p.Ser656Pro)
c.2539T>C (p.Ser847Pro)
n.15569T>C
c.15553T>C (p.Ser5185Pro)
c.15475T>C (p.Ser5159Pro)
c.12859T>C (p.Ser4287Pro)
c.15577T>C (p.Ser5193Pro)
c.15574T>C (p.Ser5192Pro)
c.15496T>C (p.Ser5166Pro)
c.15481T>C (p.Ser5161Pro)
c.15397T>C (p.Ser5133Pro)
c.*510T>C (n.*510T>C)
c.8695T>C (p.Ser2899Pro)
c.8674T>C (p.Ser2892Pro)
n.15572T>C
5g.90810816T>GCA360410021ADGRV1c.15556T>G (p.Ser5186Ala)
c.4510T>G (p.Ser1504Ala)
n.2823T>G
c.265+134607T>G (n.265+134607T>G)
c.1966T>G (p.Ser656Ala)
c.2539T>G (p.Ser847Ala)
n.15569T>G
c.15553T>G (p.Ser5185Ala)
c.15475T>G (p.Ser5159Ala)
c.12859T>G (p.Ser4287Ala)
c.15577T>G (p.Ser5193Ala)
c.15574T>G (p.Ser5192Ala)
c.15496T>G (p.Ser5166Ala)
c.15481T>G (p.Ser5161Ala)
c.15397T>G (p.Ser5133Ala)
c.*510T>G (n.*510T>G)
c.8695T>G (p.Ser2899Ala)
c.8674T>G (p.Ser2892Ala)
n.15572T>G
5g.90810817C>ACA360410026ADGRV1c.15557C>A (p.Ser5186Tyr)
c.4511C>A (p.Ser1504Tyr)
n.2824C>A
c.265+134608C>A (n.265+134608C>A)
c.1967C>A (p.Ser656Tyr)
c.2540C>A (p.Ser847Tyr)
n.15570C>A
c.15554C>A (p.Ser5185Tyr)
c.15476C>A (p.Ser5159Tyr)
c.12860C>A (p.Ser4287Tyr)
c.15578C>A (p.Ser5193Tyr)
c.15575C>A (p.Ser5192Tyr)
c.15497C>A (p.Ser5166Tyr)
c.15482C>A (p.Ser5161Tyr)
c.15398C>A (p.Ser5133Tyr)
c.*511C>A (n.*511C>A)
c.8696C>A (p.Ser2899Tyr)
c.8675C>A (p.Ser2892Tyr)
n.15573C>A
5g.90810817C>GCA360410028ADGRV1c.15557C>G (p.Ser5186Cys)
c.4511C>G (p.Ser1504Cys)
n.2824C>G
c.265+134608C>G (n.265+134608C>G)
c.1967C>G (p.Ser656Cys)
c.2540C>G (p.Ser847Cys)
n.15570C>G
c.15554C>G (p.Ser5185Cys)
c.15476C>G (p.Ser5159Cys)
c.12860C>G (p.Ser4287Cys)
c.15578C>G (p.Ser5193Cys)
c.15575C>G (p.Ser5192Cys)
c.15497C>G (p.Ser5166Cys)
c.15482C>G (p.Ser5161Cys)
c.15398C>G (p.Ser5133Cys)
c.*511C>G (n.*511C>G)
c.8696C>G (p.Ser2899Cys)
c.8675C>G (p.Ser2892Cys)
n.15573C>G
5g.90810817C>TCA360410024ADGRV1c.15557C>T (p.Ser5186Phe)
c.4511C>T (p.Ser1504Phe)
n.2824C>T
c.265+134608C>T (n.265+134608C>T)
c.1967C>T (p.Ser656Phe)
c.2540C>T (p.Ser847Phe)
n.15570C>T
c.15554C>T (p.Ser5185Phe)
c.15476C>T (p.Ser5159Phe)
c.12860C>T (p.Ser4287Phe)
c.15578C>T (p.Ser5193Phe)
c.15575C>T (p.Ser5192Phe)
c.15497C>T (p.Ser5166Phe)
c.15482C>T (p.Ser5161Phe)
c.15398C>T (p.Ser5133Phe)
c.*511C>T (n.*511C>T)
c.8696C>T (p.Ser2899Phe)
c.8675C>T (p.Ser2892Phe)
n.15573C>T
 gnomAD v4
5g.90810818T>ACA445467744ADGRV1c.15558T>A (p.Ser5186=)
c.4512T>A (p.Ser1504=)
n.2825T>A
c.265+134609T>A (n.265+134609T>A)
c.1968T>A (p.Ser656=)
c.2541T>A (p.Ser847=)
n.15571T>A
c.15555T>A (p.Ser5185=)
c.15477T>A (p.Ser5159=)
c.12861T>A (p.Ser4287=)
c.15579T>A (p.Ser5193=)
c.15576T>A (p.Ser5192=)
c.15498T>A (p.Ser5166=)
c.15483T>A (p.Ser5161=)
c.15399T>A (p.Ser5133=)
c.*512T>A (n.*512T>A)
c.8697T>A (p.Ser2899=)
c.8676T>A (p.Ser2892=)
n.15574T>A
5g.90810818T>CCA445467746ADGRV1c.15558T>C (p.Ser5186=)
c.4512T>C (p.Ser1504=)
n.2825T>C
c.265+134609T>C (n.265+134609T>C)
c.1968T>C (p.Ser656=)
c.2541T>C (p.Ser847=)
n.15571T>C
c.15555T>C (p.Ser5185=)
c.15477T>C (p.Ser5159=)
c.12861T>C (p.Ser4287=)
c.15579T>C (p.Ser5193=)
c.15576T>C (p.Ser5192=)
c.15498T>C (p.Ser5166=)
c.15483T>C (p.Ser5161=)
c.15399T>C (p.Ser5133=)
c.*512T>C (n.*512T>C)
c.8697T>C (p.Ser2899=)
c.8676T>C (p.Ser2892=)
n.15574T>C
5g.90810818T>GCA445467745ADGRV1c.15558T>G (p.Ser5186=)
c.4512T>G (p.Ser1504=)
n.2825T>G
c.265+134609T>G (n.265+134609T>G)
c.1968T>G (p.Ser656=)
c.2541T>G (p.Ser847=)
n.15571T>G
c.15555T>G (p.Ser5185=)
c.15477T>G (p.Ser5159=)
c.12861T>G (p.Ser4287=)
c.15579T>G (p.Ser5193=)
c.15576T>G (p.Ser5192=)
c.15498T>G (p.Ser5166=)
c.15483T>G (p.Ser5161=)
c.15399T>G (p.Ser5133=)
c.*512T>G (n.*512T>G)
c.8697T>G (p.Ser2899=)
c.8676T>G (p.Ser2892=)
n.15574T>G
5g.90810819G>ACA360410034ADGRV1c.15559G>A (p.Ala5187Thr)
c.4513G>A (p.Ala1505Thr)
n.2826G>A
c.265+134610G>A (n.265+134610G>A)
c.1969G>A (p.Ala657Thr)
c.2542G>A (p.Ala848Thr)
n.15572G>A
c.15556G>A (p.Ala5186Thr)
c.15478G>A (p.Ala5160Thr)
c.12862G>A (p.Ala4288Thr)
c.15580G>A (p.Ala5194Thr)
c.15577G>A (p.Ala5193Thr)
c.15499G>A (p.Ala5167Thr)
c.15484G>A (p.Ala5162Thr)
c.15400G>A (p.Ala5134Thr)
c.*513G>A (n.*513G>A)
c.8698G>A (p.Ala2900Thr)
c.8677G>A (p.Ala2893Thr)
n.15575G>A
5g.90810819G>CCA360410031ADGRV1c.15559G>C (p.Ala5187Pro)
c.4513G>C (p.Ala1505Pro)
n.2826G>C
c.265+134610G>C (n.265+134610G>C)
c.1969G>C (p.Ala657Pro)
c.2542G>C (p.Ala848Pro)
n.15572G>C
c.15556G>C (p.Ala5186Pro)
c.15478G>C (p.Ala5160Pro)
c.12862G>C (p.Ala4288Pro)
c.15580G>C (p.Ala5194Pro)
c.15577G>C (p.Ala5193Pro)
c.15499G>C (p.Ala5167Pro)
c.15484G>C (p.Ala5162Pro)
c.15400G>C (p.Ala5134Pro)
c.*513G>C (n.*513G>C)
c.8698G>C (p.Ala2900Pro)
c.8677G>C (p.Ala2893Pro)
n.15575G>C
 gnomAD v4
5g.90810819G>TCA360410032ADGRV1c.15559G>T (p.Ala5187Ser)
c.4513G>T (p.Ala1505Ser)
n.2826G>T
c.265+134610G>T (n.265+134610G>T)
c.1969G>T (p.Ala657Ser)
c.2542G>T (p.Ala848Ser)
n.15572G>T
c.15556G>T (p.Ala5186Ser)
c.15478G>T (p.Ala5160Ser)
c.12862G>T (p.Ala4288Ser)
c.15580G>T (p.Ala5194Ser)
c.15577G>T (p.Ala5193Ser)
c.15499G>T (p.Ala5167Ser)
c.15484G>T (p.Ala5162Ser)
c.15400G>T (p.Ala5134Ser)
c.*513G>T (n.*513G>T)
c.8698G>T (p.Ala2900Ser)
c.8677G>T (p.Ala2893Ser)
n.15575G>T
5g.90810820C>ACA360410036ADGRV1c.15560C>A (p.Ala5187Asp)
c.4514C>A (p.Ala1505Asp)
n.2827C>A
c.265+134611C>A (n.265+134611C>A)
c.1970C>A (p.Ala657Asp)
c.2543C>A (p.Ala848Asp)
n.15573C>A
c.15557C>A (p.Ala5186Asp)
c.15479C>A (p.Ala5160Asp)
c.12863C>A (p.Ala4288Asp)
c.15581C>A (p.Ala5194Asp)
c.15578C>A (p.Ala5193Asp)
c.15500C>A (p.Ala5167Asp)
c.15485C>A (p.Ala5162Asp)
c.15401C>A (p.Ala5134Asp)
c.*514C>A (n.*514C>A)
c.8699C>A (p.Ala2900Asp)
c.8678C>A (p.Ala2893Asp)
n.15576C>A
5g.90810820C=CA1562911540ADGRV1c.15560C= (p.Ala5187=)
c.4514C= (p.Ala1505=)
n.2827C=
c.265+134611C= (n.265+134611C=)
c.1970C= (p.Ala657=)
c.2543C= (p.Ala848=)
n.15573C=
c.15557C= (p.Ala5186=)
c.15479C= (p.Ala5160=)
c.12863C= (p.Ala4288=)
c.15581C= (p.Ala5194=)
c.15578C= (p.Ala5193=)
c.15500C= (p.Ala5167=)
c.15485C= (p.Ala5162=)
c.15401C= (p.Ala5134=)
c.*514C= (n.*514C=)
c.8699C= (p.Ala2900=)
c.8678C= (p.Ala2893=)
n.15576C=
5g.90810820C>GCA360410038ADGRV1c.15560C>G (p.Ala5187Gly)
c.4514C>G (p.Ala1505Gly)
n.2827C>G
c.265+134611C>G (n.265+134611C>G)
c.1970C>G (p.Ala657Gly)
c.2543C>G (p.Ala848Gly)
n.15573C>G
c.15557C>G (p.Ala5186Gly)
c.15479C>G (p.Ala5160Gly)
c.12863C>G (p.Ala4288Gly)
c.15581C>G (p.Ala5194Gly)
c.15578C>G (p.Ala5193Gly)
c.15500C>G (p.Ala5167Gly)
c.15485C>G (p.Ala5162Gly)
c.15401C>G (p.Ala5134Gly)
c.*514C>G (n.*514C>G)
c.8699C>G (p.Ala2900Gly)
c.8678C>G (p.Ala2893Gly)
n.15576C>G
5g.90810820C>TCA3341944ADGRV1c.15560C>T (p.Ala5187Val)
c.4514C>T (p.Ala1505Val)
n.2827C>T
c.265+134611C>T (n.265+134611C>T)
c.1970C>T (p.Ala657Val)
c.2543C>T (p.Ala848Val)
n.15573C>T
c.15557C>T (p.Ala5186Val)
c.15479C>T (p.Ala5160Val)
c.12863C>T (p.Ala4288Val)
c.15581C>T (p.Ala5194Val)
c.15578C>T (p.Ala5193Val)
c.15500C>T (p.Ala5167Val)
c.15485C>T (p.Ala5162Val)
c.15401C>T (p.Ala5134Val)
c.*514C>T (n.*514C>T)
c.8699C>T (p.Ala2900Val)
c.8678C>T (p.Ala2893Val)
n.15576C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90810821C>ACA445467752ADGRV1c.15561C>A (p.Ala5187=)
c.4515C>A (p.Ala1505=)
n.2828C>A
c.265+134612C>A (n.265+134612C>A)
c.1971C>A (p.Ala657=)
c.2544C>A (p.Ala848=)
n.15574C>A
c.15558C>A (p.Ala5186=)
c.15480C>A (p.Ala5160=)
c.12864C>A (p.Ala4288=)
c.15582C>A (p.Ala5194=)
c.15579C>A (p.Ala5193=)
c.15501C>A (p.Ala5167=)
c.15486C>A (p.Ala5162=)
c.15402C>A (p.Ala5134=)
c.*515C>A (n.*515C>A)
c.8700C>A (p.Ala2900=)
c.8679C>A (p.Ala2893=)
n.15577C>A
5g.90810821C>GCA445467753ADGRV1c.15561C>G (p.Ala5187=)
c.4515C>G (p.Ala1505=)
n.2828C>G
c.265+134612C>G (n.265+134612C>G)
c.1971C>G (p.Ala657=)
c.2544C>G (p.Ala848=)
n.15574C>G
c.15558C>G (p.Ala5186=)
c.15480C>G (p.Ala5160=)
c.12864C>G (p.Ala4288=)
c.15582C>G (p.Ala5194=)
c.15579C>G (p.Ala5193=)
c.15501C>G (p.Ala5167=)
c.15486C>G (p.Ala5162=)
c.15402C>G (p.Ala5134=)
c.*515C>G (n.*515C>G)
c.8700C>G (p.Ala2900=)
c.8679C>G (p.Ala2893=)
n.15577C>G
5g.90810821C>TCA445467754ADGRV1c.15561C>T (p.Ala5187=)
c.4515C>T (p.Ala1505=)
n.2828C>T
c.265+134612C>T (n.265+134612C>T)
c.1971C>T (p.Ala657=)
c.2544C>T (p.Ala848=)
n.15574C>T
c.15558C>T (p.Ala5186=)
c.15480C>T (p.Ala5160=)
c.12864C>T (p.Ala4288=)
c.15582C>T (p.Ala5194=)
c.15579C>T (p.Ala5193=)
c.15501C>T (p.Ala5167=)
c.15486C>T (p.Ala5162=)
c.15402C>T (p.Ala5134=)
c.*515C>T (n.*515C>T)
c.8700C>T (p.Ala2900=)
c.8679C>T (p.Ala2893=)
n.15577C>T
5g.90810822A>CCA360410041ADGRV1c.15562A>C (p.Ile5188Leu)
c.4516A>C (p.Ile1506Leu)
n.2829A>C
c.265+134613A>C (n.265+134613A>C)
c.1972A>C (p.Ile658Leu)
c.2545A>C (p.Ile849Leu)
n.15575A>C
c.15559A>C (p.Ile5187Leu)
c.15481A>C (p.Ile5161Leu)
c.12865A>C (p.Ile4289Leu)
c.15583A>C (p.Ile5195Leu)
c.15580A>C (p.Ile5194Leu)
c.15502A>C (p.Ile5168Leu)
c.15487A>C (p.Ile5163Leu)
c.15403A>C (p.Ile5135Leu)
c.*516A>C (n.*516A>C)
c.8701A>C (p.Ile2901Leu)
c.8680A>C (p.Ile2894Leu)
n.15578A>C
5g.90810822A>GCA360410043ADGRV1c.15562A>G (p.Ile5188Val)
c.4516A>G (p.Ile1506Val)
n.2829A>G
c.265+134613A>G (n.265+134613A>G)
c.1972A>G (p.Ile658Val)
c.2545A>G (p.Ile849Val)
n.15575A>G
c.15559A>G (p.Ile5187Val)
c.15481A>G (p.Ile5161Val)
c.12865A>G (p.Ile4289Val)
c.15583A>G (p.Ile5195Val)
c.15580A>G (p.Ile5194Val)
c.15502A>G (p.Ile5168Val)
c.15487A>G (p.Ile5163Val)
c.15403A>G (p.Ile5135Val)
c.*516A>G (n.*516A>G)
c.8701A>G (p.Ile2901Val)
c.8680A>G (p.Ile2894Val)
n.15578A>G
5g.90810822A>TCA360410044ADGRV1c.15562A>T (p.Ile5188Phe)
c.4516A>T (p.Ile1506Phe)
n.2829A>T
c.265+134613A>T (n.265+134613A>T)
c.1972A>T (p.Ile658Phe)
c.2545A>T (p.Ile849Phe)
n.15575A>T
c.15559A>T (p.Ile5187Phe)
c.15481A>T (p.Ile5161Phe)
c.12865A>T (p.Ile4289Phe)
c.15583A>T (p.Ile5195Phe)
c.15580A>T (p.Ile5194Phe)
c.15502A>T (p.Ile5168Phe)
c.15487A>T (p.Ile5163Phe)
c.15403A>T (p.Ile5135Phe)
c.*516A>T (n.*516A>T)
c.8701A>T (p.Ile2901Phe)
c.8680A>T (p.Ile2894Phe)
n.15578A>T
5g.90810823T>ACA360410046ADGRV1c.15563T>A (p.Ile5188Asn)
c.4517T>A (p.Ile1506Asn)
n.2830T>A
c.265+134614T>A (n.265+134614T>A)
c.1973T>A (p.Ile658Asn)
c.2546T>A (p.Ile849Asn)
n.15576T>A
c.15560T>A (p.Ile5187Asn)
c.15482T>A (p.Ile5161Asn)
c.12866T>A (p.Ile4289Asn)
c.15584T>A (p.Ile5195Asn)
c.15581T>A (p.Ile5194Asn)
c.15503T>A (p.Ile5168Asn)
c.15488T>A (p.Ile5163Asn)
c.15404T>A (p.Ile5135Asn)
c.*517T>A (n.*517T>A)
c.8702T>A (p.Ile2901Asn)
c.8681T>A (p.Ile2894Asn)
n.15579T>A
5g.90810823T>CCA360410047ADGRV1c.15563T>C (p.Ile5188Thr)
c.4517T>C (p.Ile1506Thr)
n.2830T>C
c.265+134614T>C (n.265+134614T>C)
c.1973T>C (p.Ile658Thr)
c.2546T>C (p.Ile849Thr)
n.15576T>C
c.15560T>C (p.Ile5187Thr)
c.15482T>C (p.Ile5161Thr)
c.12866T>C (p.Ile4289Thr)
c.15584T>C (p.Ile5195Thr)
c.15581T>C (p.Ile5194Thr)
c.15503T>C (p.Ile5168Thr)
c.15488T>C (p.Ile5163Thr)
c.15404T>C (p.Ile5135Thr)
c.*517T>C (n.*517T>C)
c.8702T>C (p.Ile2901Thr)
c.8681T>C (p.Ile2894Thr)
n.15579T>C
5g.90810823T>GCA360410049ADGRV1c.15563T>G (p.Ile5188Ser)
c.4517T>G (p.Ile1506Ser)
n.2830T>G
c.265+134614T>G (n.265+134614T>G)
c.1973T>G (p.Ile658Ser)
c.2546T>G (p.Ile849Ser)
n.15576T>G
c.15560T>G (p.Ile5187Ser)
c.15482T>G (p.Ile5161Ser)
c.12866T>G (p.Ile4289Ser)
c.15584T>G (p.Ile5195Ser)
c.15581T>G (p.Ile5194Ser)
c.15503T>G (p.Ile5168Ser)
c.15488T>G (p.Ile5163Ser)
c.15404T>G (p.Ile5135Ser)
c.*517T>G (n.*517T>G)
c.8702T>G (p.Ile2901Ser)
c.8681T>G (p.Ile2894Ser)
n.15579T>G
5g.90810824C>ACA445467757ADGRV1c.15564C>A (p.Ile5188=)
c.4518C>A (p.Ile1506=)
n.2831C>A
c.265+134615C>A (n.265+134615C>A)
c.1974C>A (p.Ile658=)
c.2547C>A (p.Ile849=)
n.15577C>A
c.15561C>A (p.Ile5187=)
c.15483C>A (p.Ile5161=)
c.12867C>A (p.Ile4289=)
c.15585C>A (p.Ile5195=)
c.15582C>A (p.Ile5194=)
c.15504C>A (p.Ile5168=)
c.15489C>A (p.Ile5163=)
c.15405C>A (p.Ile5135=)
c.*518C>A (n.*518C>A)
c.8703C>A (p.Ile2901=)
c.8682C>A (p.Ile2894=)
n.15580C>A
5g.90810824C>GCA360410052ADGRV1c.15564C>G (p.Ile5188Met)
c.4518C>G (p.Ile1506Met)
n.2831C>G
c.265+134615C>G (n.265+134615C>G)
c.1974C>G (p.Ile658Met)
c.2547C>G (p.Ile849Met)
n.15577C>G
c.15561C>G (p.Ile5187Met)
c.15483C>G (p.Ile5161Met)
c.12867C>G (p.Ile4289Met)
c.15585C>G (p.Ile5195Met)
c.15582C>G (p.Ile5194Met)
c.15504C>G (p.Ile5168Met)
c.15489C>G (p.Ile5163Met)
c.15405C>G (p.Ile5135Met)
c.*518C>G (n.*518C>G)
c.8703C>G (p.Ile2901Met)
c.8682C>G (p.Ile2894Met)
n.15580C>G
5g.90810824C>TCA445467759ADGRV1c.15564C>T (p.Ile5188=)
c.4518C>T (p.Ile1506=)
n.2831C>T
c.265+134615C>T (n.265+134615C>T)
c.1974C>T (p.Ile658=)
c.2547C>T (p.Ile849=)
n.15577C>T
c.15561C>T (p.Ile5187=)
c.15483C>T (p.Ile5161=)
c.12867C>T (p.Ile4289=)
c.15585C>T (p.Ile5195=)
c.15582C>T (p.Ile5194=)
c.15504C>T (p.Ile5168=)
c.15489C>T (p.Ile5163=)
c.15405C>T (p.Ile5135=)
c.*518C>T (n.*518C>T)
c.8703C>T (p.Ile2901=)
c.8682C>T (p.Ile2894=)
n.15580C>T
 ClinVar dbSNP gnomAD v4
5g.90810825C>ACA360410056ADGRV1c.15565C>A (p.Pro5189Thr)
c.4519C>A (p.Pro1507Thr)
n.2832C>A
c.265+134616C>A (n.265+134616C>A)
c.1975C>A (p.Pro659Thr)
c.2548C>A (p.Pro850Thr)
n.15578C>A
c.15562C>A (p.Pro5188Thr)
c.15484C>A (p.Pro5162Thr)
c.12868C>A (p.Pro4290Thr)
c.15586C>A (p.Pro5196Thr)
c.15583C>A (p.Pro5195Thr)
c.15505C>A (p.Pro5169Thr)
c.15490C>A (p.Pro5164Thr)
c.15406C>A (p.Pro5136Thr)
c.*519C>A (n.*519C>A)
c.8704C>A (p.Pro2902Thr)
c.8683C>A (p.Pro2895Thr)
n.15581C>A
5g.90810825C=CA1562911541ADGRV1c.15565C= (p.Pro5189=)
c.4519C= (p.Pro1507=)
n.2832C=
c.265+134616C= (n.265+134616C=)
c.1975C= (p.Pro659=)
c.2548C= (p.Pro850=)
n.15578C=
c.15562C= (p.Pro5188=)
c.15484C= (p.Pro5162=)
c.12868C= (p.Pro4290=)
c.15586C= (p.Pro5196=)
c.15583C= (p.Pro5195=)
c.15505C= (p.Pro5169=)
c.15490C= (p.Pro5164=)
c.15406C= (p.Pro5136=)
c.*519C= (n.*519C=)
c.8704C= (p.Pro2902=)
c.8683C= (p.Pro2895=)
n.15581C=
5g.90810825C>GCA3341945ADGRV1c.15565C>G (p.Pro5189Ala)
c.4519C>G (p.Pro1507Ala)
n.2832C>G
c.265+134616C>G (n.265+134616C>G)
c.1975C>G (p.Pro659Ala)
c.2548C>G (p.Pro850Ala)
n.15578C>G
c.15562C>G (p.Pro5188Ala)
c.15484C>G (p.Pro5162Ala)
c.12868C>G (p.Pro4290Ala)
c.15586C>G (p.Pro5196Ala)
c.15583C>G (p.Pro5195Ala)
c.15505C>G (p.Pro5169Ala)
c.15490C>G (p.Pro5164Ala)
c.15406C>G (p.Pro5136Ala)
c.*519C>G (n.*519C>G)
c.8704C>G (p.Pro2902Ala)
c.8683C>G (p.Pro2895Ala)
n.15581C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810825C>TCA360410054ADGRV1c.15565C>T (p.Pro5189Ser)
c.4519C>T (p.Pro1507Ser)
n.2832C>T
c.265+134616C>T (n.265+134616C>T)
c.1975C>T (p.Pro659Ser)
c.2548C>T (p.Pro850Ser)
n.15578C>T
c.15562C>T (p.Pro5188Ser)
c.15484C>T (p.Pro5162Ser)
c.12868C>T (p.Pro4290Ser)
c.15586C>T (p.Pro5196Ser)
c.15583C>T (p.Pro5195Ser)
c.15505C>T (p.Pro5169Ser)
c.15490C>T (p.Pro5164Ser)
c.15406C>T (p.Pro5136Ser)
c.*519C>T (n.*519C>T)
c.8704C>T (p.Pro2902Ser)
c.8683C>T (p.Pro2895Ser)
n.15581C>T
 dbSNP gnomAD v2 gnomAD v4
5g.90810826C>ACA360410059ADGRV1c.15566C>A (p.Pro5189His)
c.4520C>A (p.Pro1507His)
n.2833C>A
c.265+134617C>A (n.265+134617C>A)
c.1976C>A (p.Pro659His)
c.2549C>A (p.Pro850His)
n.15579C>A
c.15563C>A (p.Pro5188His)
c.15485C>A (p.Pro5162His)
c.12869C>A (p.Pro4290His)
c.15587C>A (p.Pro5196His)
c.15584C>A (p.Pro5195His)
c.15506C>A (p.Pro5169His)
c.15491C>A (p.Pro5164His)
c.15407C>A (p.Pro5136His)
c.*520C>A (n.*520C>A)
c.8705C>A (p.Pro2902His)
c.8684C>A (p.Pro2895His)
n.15582C>A
5g.90810826C=CA1562911542ADGRV1c.15566C= (p.Pro5189=)
c.4520C= (p.Pro1507=)
n.2833C=
c.265+134617C= (n.265+134617C=)
c.1976C= (p.Pro659=)
c.2549C= (p.Pro850=)
n.15579C=
c.15563C= (p.Pro5188=)
c.15485C= (p.Pro5162=)
c.12869C= (p.Pro4290=)
c.15587C= (p.Pro5196=)
c.15584C= (p.Pro5195=)
c.15506C= (p.Pro5169=)
c.15491C= (p.Pro5164=)
c.15407C= (p.Pro5136=)
c.*520C= (n.*520C=)
c.8705C= (p.Pro2902=)
c.8684C= (p.Pro2895=)
n.15582C=
5g.90810826C>GCA360410061ADGRV1c.15566C>G (p.Pro5189Arg)
c.4520C>G (p.Pro1507Arg)
n.2833C>G
c.265+134617C>G (n.265+134617C>G)
c.1976C>G (p.Pro659Arg)
c.2549C>G (p.Pro850Arg)
n.15579C>G
c.15563C>G (p.Pro5188Arg)
c.15485C>G (p.Pro5162Arg)
c.12869C>G (p.Pro4290Arg)
c.15587C>G (p.Pro5196Arg)
c.15584C>G (p.Pro5195Arg)
c.15506C>G (p.Pro5169Arg)
c.15491C>G (p.Pro5164Arg)
c.15407C>G (p.Pro5136Arg)
c.*520C>G (n.*520C>G)
c.8705C>G (p.Pro2902Arg)
c.8684C>G (p.Pro2895Arg)
n.15582C>G
5g.90810826C>TCA122821841ADGRV1c.15566C>T (p.Pro5189Leu)
c.4520C>T (p.Pro1507Leu)
n.2833C>T
c.265+134617C>T (n.265+134617C>T)
c.1976C>T (p.Pro659Leu)
c.2549C>T (p.Pro850Leu)
n.15579C>T
c.15563C>T (p.Pro5188Leu)
c.15485C>T (p.Pro5162Leu)
c.12869C>T (p.Pro4290Leu)
c.15587C>T (p.Pro5196Leu)
c.15584C>T (p.Pro5195Leu)
c.15506C>T (p.Pro5169Leu)
c.15491C>T (p.Pro5164Leu)
c.15407C>T (p.Pro5136Leu)
c.*520C>T (n.*520C>T)
c.8705C>T (p.Pro2902Leu)
c.8684C>T (p.Pro2895Leu)
n.15582C>T
 ClinVar dbSNP
5g.90810827T>ACA445467764ADGRV1c.15567T>A (p.Pro5189=)
c.4521T>A (p.Pro1507=)
n.2834T>A
c.265+134618T>A (n.265+134618T>A)
c.1977T>A (p.Pro659=)
c.2550T>A (p.Pro850=)
n.15580T>A
c.15564T>A (p.Pro5188=)
c.15486T>A (p.Pro5162=)
c.12870T>A (p.Pro4290=)
c.15588T>A (p.Pro5196=)
c.15585T>A (p.Pro5195=)
c.15507T>A (p.Pro5169=)
c.15492T>A (p.Pro5164=)
c.15408T>A (p.Pro5136=)
c.*521T>A (n.*521T>A)
c.8706T>A (p.Pro2902=)
c.8685T>A (p.Pro2895=)
n.15583T>A
5g.90810827T>CCA445467765ADGRV1c.15567T>C (p.Pro5189=)
c.4521T>C (p.Pro1507=)
n.2834T>C
c.265+134618T>C (n.265+134618T>C)
c.1977T>C (p.Pro659=)
c.2550T>C (p.Pro850=)
n.15580T>C
c.15564T>C (p.Pro5188=)
c.15486T>C (p.Pro5162=)
c.12870T>C (p.Pro4290=)
c.15588T>C (p.Pro5196=)
c.15585T>C (p.Pro5195=)
c.15507T>C (p.Pro5169=)
c.15492T>C (p.Pro5164=)
c.15408T>C (p.Pro5136=)
c.*521T>C (n.*521T>C)
c.8706T>C (p.Pro2902=)
c.8685T>C (p.Pro2895=)
n.15583T>C
5g.90810827T>GCA445467766ADGRV1c.15567T>G (p.Pro5189=)
c.4521T>G (p.Pro1507=)
n.2834T>G
c.265+134618T>G (n.265+134618T>G)
c.1977T>G (p.Pro659=)
c.2550T>G (p.Pro850=)
n.15580T>G
c.15564T>G (p.Pro5188=)
c.15486T>G (p.Pro5162=)
c.12870T>G (p.Pro4290=)
c.15588T>G (p.Pro5196=)
c.15585T>G (p.Pro5195=)
c.15507T>G (p.Pro5169=)
c.15492T>G (p.Pro5164=)
c.15408T>G (p.Pro5136=)
c.*521T>G (n.*521T>G)
c.8706T>G (p.Pro2902=)
c.8685T>G (p.Pro2895=)
n.15583T>G
5g.90810828G>ACA360410063ADGRV1c.15568G>A (p.Glu5190Lys)
c.4522G>A (p.Glu1508Lys)
n.2835G>A
c.265+134619G>A (n.265+134619G>A)
c.1978G>A (p.Glu660Lys)
c.2551G>A (p.Glu851Lys)
n.15581G>A
c.15565G>A (p.Glu5189Lys)
c.15487G>A (p.Glu5163Lys)
c.12871G>A (p.Glu4291Lys)
c.15589G>A (p.Glu5197Lys)
c.15586G>A (p.Glu5196Lys)
c.15508G>A (p.Glu5170Lys)
c.15493G>A (p.Glu5165Lys)
c.15409G>A (p.Glu5137Lys)
c.*522G>A (n.*522G>A)
c.8707G>A (p.Glu2903Lys)
c.8686G>A (p.Glu2896Lys)
n.15584G>A
 COSMIC
5g.90810828G>CCA360410065ADGRV1c.15568G>C (p.Glu5190Gln)
c.4522G>C (p.Glu1508Gln)
n.2835G>C
c.265+134619G>C (n.265+134619G>C)
c.1978G>C (p.Glu660Gln)
c.2551G>C (p.Glu851Gln)
n.15581G>C
c.15565G>C (p.Glu5189Gln)
c.15487G>C (p.Glu5163Gln)
c.12871G>C (p.Glu4291Gln)
c.15589G>C (p.Glu5197Gln)
c.15586G>C (p.Glu5196Gln)
c.15508G>C (p.Glu5170Gln)
c.15493G>C (p.Glu5165Gln)
c.15409G>C (p.Glu5137Gln)
c.*522G>C (n.*522G>C)
c.8707G>C (p.Glu2903Gln)
c.8686G>C (p.Glu2896Gln)
n.15584G>C
5g.90810828G>TCA360410067ADGRV1c.15568G>T (p.Glu5190Ter)
c.4522G>T (p.Glu1508Ter)
n.2835G>T
c.265+134619G>T (n.265+134619G>T)
c.1978G>T (p.Glu660Ter)
c.2551G>T (p.Glu851Ter)
n.15581G>T
c.15565G>T (p.Glu5189Ter)
c.15487G>T (p.Glu5163Ter)
c.12871G>T (p.Glu4291Ter)
c.15589G>T (p.Glu5197Ter)
c.15586G>T (p.Glu5196Ter)
c.15508G>T (p.Glu5170Ter)
c.15493G>T (p.Glu5165Ter)
c.15409G>T (p.Glu5137Ter)
c.*522G>T (n.*522G>T)
c.8707G>T (p.Glu2903Ter)
c.8686G>T (p.Glu2896Ter)
n.15584G>T
5g.90810829A>CCA360410069ADGRV1c.15569A>C (p.Glu5190Ala)
c.4523A>C (p.Glu1508Ala)
n.2836A>C
c.265+134620A>C (n.265+134620A>C)
c.1979A>C (p.Glu660Ala)
c.2552A>C (p.Glu851Ala)
n.15582A>C
c.15566A>C (p.Glu5189Ala)
c.15488A>C (p.Glu5163Ala)
c.12872A>C (p.Glu4291Ala)
c.15590A>C (p.Glu5197Ala)
c.15587A>C (p.Glu5196Ala)
c.15509A>C (p.Glu5170Ala)
c.15494A>C (p.Glu5165Ala)
c.15410A>C (p.Glu5137Ala)
c.*523A>C (n.*523A>C)
c.8708A>C (p.Glu2903Ala)
c.8687A>C (p.Glu2896Ala)
n.15585A>C
5g.90810829A>GCA360410070ADGRV1c.15569A>G (p.Glu5190Gly)
c.4523A>G (p.Glu1508Gly)
n.2836A>G
c.265+134620A>G (n.265+134620A>G)
c.1979A>G (p.Glu660Gly)
c.2552A>G (p.Glu851Gly)
n.15582A>G
c.15566A>G (p.Glu5189Gly)
c.15488A>G (p.Glu5163Gly)
c.12872A>G (p.Glu4291Gly)
c.15590A>G (p.Glu5197Gly)
c.15587A>G (p.Glu5196Gly)
c.15509A>G (p.Glu5170Gly)
c.15494A>G (p.Glu5165Gly)
c.15410A>G (p.Glu5137Gly)
c.*523A>G (n.*523A>G)
c.8708A>G (p.Glu2903Gly)
c.8687A>G (p.Glu2896Gly)
n.15585A>G
5g.90810829A>TCA360410072ADGRV1c.15569A>T (p.Glu5190Val)
c.4523A>T (p.Glu1508Val)
n.2836A>T
c.265+134620A>T (n.265+134620A>T)
c.1979A>T (p.Glu660Val)
c.2552A>T (p.Glu851Val)
n.15582A>T
c.15566A>T (p.Glu5189Val)
c.15488A>T (p.Glu5163Val)
c.12872A>T (p.Glu4291Val)
c.15590A>T (p.Glu5197Val)
c.15587A>T (p.Glu5196Val)
c.15509A>T (p.Glu5170Val)
c.15494A>T (p.Glu5165Val)
c.15410A>T (p.Glu5137Val)
c.*523A>T (n.*523A>T)
c.8708A>T (p.Glu2903Val)
c.8687A>T (p.Glu2896Val)
n.15585A>T
5g.90810830G>ACA445467769ADGRV1c.15570G>A (p.Glu5190=)
c.4524G>A (p.Glu1508=)
n.2837G>A
c.265+134621G>A (n.265+134621G>A)
c.1980G>A (p.Glu660=)
c.2553G>A (p.Glu851=)
n.15583G>A
c.15567G>A (p.Glu5189=)
c.15489G>A (p.Glu5163=)
c.12873G>A (p.Glu4291=)
c.15591G>A (p.Glu5197=)
c.15588G>A (p.Glu5196=)
c.15510G>A (p.Glu5170=)
c.15495G>A (p.Glu5165=)
c.15411G>A (p.Glu5137=)
c.*524G>A (n.*524G>A)
c.8709G>A (p.Glu2903=)
c.8688G>A (p.Glu2896=)
n.15586G>A
 ClinVar
5g.90810830G>CCA360410073ADGRV1c.15570G>C (p.Glu5190Asp)
c.4524G>C (p.Glu1508Asp)
n.2837G>C
c.265+134621G>C (n.265+134621G>C)
c.1980G>C (p.Glu660Asp)
c.2553G>C (p.Glu851Asp)
n.15583G>C
c.15567G>C (p.Glu5189Asp)
c.15489G>C (p.Glu5163Asp)
c.12873G>C (p.Glu4291Asp)
c.15591G>C (p.Glu5197Asp)
c.15588G>C (p.Glu5196Asp)
c.15510G>C (p.Glu5170Asp)
c.15495G>C (p.Glu5165Asp)
c.15411G>C (p.Glu5137Asp)
c.*524G>C (n.*524G>C)
c.8709G>C (p.Glu2903Asp)
c.8688G>C (p.Glu2896Asp)
n.15586G>C
 gnomAD v4
5g.90810830G>TCA360410075ADGRV1c.15570G>T (p.Glu5190Asp)
c.4524G>T (p.Glu1508Asp)
n.2837G>T
c.265+134621G>T (n.265+134621G>T)
c.1980G>T (p.Glu660Asp)
c.2553G>T (p.Glu851Asp)
n.15583G>T
c.15567G>T (p.Glu5189Asp)
c.15489G>T (p.Glu5163Asp)
c.12873G>T (p.Glu4291Asp)
c.15591G>T (p.Glu5197Asp)
c.15588G>T (p.Glu5196Asp)
c.15510G>T (p.Glu5170Asp)
c.15495G>T (p.Glu5165Asp)
c.15411G>T (p.Glu5137Asp)
c.*524G>T (n.*524G>T)
c.8709G>T (p.Glu2903Asp)
c.8688G>T (p.Glu2896Asp)
n.15586G>T
5g.90810831A>CCA360410079ADGRV1c.15571A>C (p.Lys5191Gln)
c.4525A>C (p.Lys1509Gln)
n.2838A>C
c.265+134622A>C (n.265+134622A>C)
c.1981A>C (p.Lys661Gln)
c.2554A>C (p.Lys852Gln)
n.15584A>C
c.15568A>C (p.Lys5190Gln)
c.15490A>C (p.Lys5164Gln)
c.12874A>C (p.Lys4292Gln)
c.15592A>C (p.Lys5198Gln)
c.15589A>C (p.Lys5197Gln)
c.15511A>C (p.Lys5171Gln)
c.15496A>C (p.Lys5166Gln)
c.15412A>C (p.Lys5138Gln)
c.*525A>C (n.*525A>C)
c.8710A>C (p.Lys2904Gln)
c.8689A>C (p.Lys2897Gln)
n.15587A>C
5g.90810831A>GCA360410081ADGRV1c.15571A>G (p.Lys5191Glu)
c.4525A>G (p.Lys1509Glu)
n.2838A>G
c.265+134622A>G (n.265+134622A>G)
c.1981A>G (p.Lys661Glu)
c.2554A>G (p.Lys852Glu)
n.15584A>G
c.15568A>G (p.Lys5190Glu)
c.15490A>G (p.Lys5164Glu)
c.12874A>G (p.Lys4292Glu)
c.15592A>G (p.Lys5198Glu)
c.15589A>G (p.Lys5197Glu)
c.15511A>G (p.Lys5171Glu)
c.15496A>G (p.Lys5166Glu)
c.15412A>G (p.Lys5138Glu)
c.*525A>G (n.*525A>G)
c.8710A>G (p.Lys2904Glu)
c.8689A>G (p.Lys2897Glu)
n.15587A>G
5g.90810831A>TCA360410078ADGRV1c.15571A>T (p.Lys5191Ter)
c.4525A>T (p.Lys1509Ter)
n.2838A>T
c.265+134622A>T (n.265+134622A>T)
c.1981A>T (p.Lys661Ter)
c.2554A>T (p.Lys852Ter)
n.15584A>T
c.15568A>T (p.Lys5190Ter)
c.15490A>T (p.Lys5164Ter)
c.12874A>T (p.Lys4292Ter)
c.15592A>T (p.Lys5198Ter)
c.15589A>T (p.Lys5197Ter)
c.15511A>T (p.Lys5171Ter)
c.15496A>T (p.Lys5166Ter)
c.15412A>T (p.Lys5138Ter)
c.*525A>T (n.*525A>T)
c.8710A>T (p.Lys2904Ter)
c.8689A>T (p.Lys2897Ter)
n.15587A>T
5g.90810832A>CCA360410083ADGRV1c.15572A>C (p.Lys5191Thr)
c.4526A>C (p.Lys1509Thr)
n.2839A>C
c.265+134623A>C (n.265+134623A>C)
c.1982A>C (p.Lys661Thr)
c.2555A>C (p.Lys852Thr)
n.15585A>C
c.15569A>C (p.Lys5190Thr)
c.15491A>C (p.Lys5164Thr)
c.12875A>C (p.Lys4292Thr)
c.15593A>C (p.Lys5198Thr)
c.15590A>C (p.Lys5197Thr)
c.15512A>C (p.Lys5171Thr)
c.15497A>C (p.Lys5166Thr)
c.15413A>C (p.Lys5138Thr)
c.*526A>C (n.*526A>C)
c.8711A>C (p.Lys2904Thr)
c.8690A>C (p.Lys2897Thr)
n.15588A>C
5g.90810832A>GCA360410085ADGRV1c.15572A>G (p.Lys5191Arg)
c.4526A>G (p.Lys1509Arg)
n.2839A>G
c.265+134623A>G (n.265+134623A>G)
c.1982A>G (p.Lys661Arg)
c.2555A>G (p.Lys852Arg)
n.15585A>G
c.15569A>G (p.Lys5190Arg)
c.15491A>G (p.Lys5164Arg)
c.12875A>G (p.Lys4292Arg)
c.15593A>G (p.Lys5198Arg)
c.15590A>G (p.Lys5197Arg)
c.15512A>G (p.Lys5171Arg)
c.15497A>G (p.Lys5166Arg)
c.15413A>G (p.Lys5138Arg)
c.*526A>G (n.*526A>G)
c.8711A>G (p.Lys2904Arg)
c.8690A>G (p.Lys2897Arg)
n.15588A>G
5g.90810832A>TCA360410086ADGRV1c.15572A>T (p.Lys5191Ile)
c.4526A>T (p.Lys1509Ile)
n.2839A>T
c.265+134623A>T (n.265+134623A>T)
c.1982A>T (p.Lys661Ile)
c.2555A>T (p.Lys852Ile)
n.15585A>T
c.15569A>T (p.Lys5190Ile)
c.15491A>T (p.Lys5164Ile)
c.12875A>T (p.Lys4292Ile)
c.15593A>T (p.Lys5198Ile)
c.15590A>T (p.Lys5197Ile)
c.15512A>T (p.Lys5171Ile)
c.15497A>T (p.Lys5166Ile)
c.15413A>T (p.Lys5138Ile)
c.*526A>T (n.*526A>T)
c.8711A>T (p.Lys2904Ile)
c.8690A>T (p.Lys2897Ile)
n.15588A>T
5g.90810833A=CA1562911543ADGRV1c.15573A= (p.Lys5191=)
c.4527A= (p.Lys1509=)
n.2840A=
c.265+134624A= (n.265+134624A=)
c.1983A= (p.Lys661=)
c.2556A= (p.Lys852=)
n.15586A=
c.15570A= (p.Lys5190=)
c.15492A= (p.Lys5164=)
c.12876A= (p.Lys4292=)
c.15594A= (p.Lys5198=)
c.15591A= (p.Lys5197=)
c.15513A= (p.Lys5171=)
c.15498A= (p.Lys5166=)
c.15414A= (p.Lys5138=)
c.*527A= (n.*527A=)
c.8712A= (p.Lys2904=)
c.8691A= (p.Lys2897=)
n.15589A=
5g.90810833A>CCA360410088ADGRV1c.15573A>C (p.Lys5191Asn)
c.4527A>C (p.Lys1509Asn)
n.2840A>C
c.265+134624A>C (n.265+134624A>C)
c.1983A>C (p.Lys661Asn)
c.2556A>C (p.Lys852Asn)
n.15586A>C
c.15570A>C (p.Lys5190Asn)
c.15492A>C (p.Lys5164Asn)
c.12876A>C (p.Lys4292Asn)
c.15594A>C (p.Lys5198Asn)
c.15591A>C (p.Lys5197Asn)
c.15513A>C (p.Lys5171Asn)
c.15498A>C (p.Lys5166Asn)
c.15414A>C (p.Lys5138Asn)
c.*527A>C (n.*527A>C)
c.8712A>C (p.Lys2904Asn)
c.8691A>C (p.Lys2897Asn)
n.15589A>C
5g.90810833A>GCA445467777ADGRV1c.15573A>G (p.Lys5191=)
c.4527A>G (p.Lys1509=)
n.2840A>G
c.265+134624A>G (n.265+134624A>G)
c.1983A>G (p.Lys661=)
c.2556A>G (p.Lys852=)
n.15586A>G
c.15570A>G (p.Lys5190=)
c.15492A>G (p.Lys5164=)
c.12876A>G (p.Lys4292=)
c.15594A>G (p.Lys5198=)
c.15591A>G (p.Lys5197=)
c.15513A>G (p.Lys5171=)
c.15498A>G (p.Lys5166=)
c.15414A>G (p.Lys5138=)
c.*527A>G (n.*527A>G)
c.8712A>G (p.Lys2904=)
c.8691A>G (p.Lys2897=)
n.15589A>G
 dbSNP
5g.90810833A>TCA360410090ADGRV1c.15573A>T (p.Lys5191Asn)
c.4527A>T (p.Lys1509Asn)
n.2840A>T
c.265+134624A>T (n.265+134624A>T)
c.1983A>T (p.Lys661Asn)
c.2556A>T (p.Lys852Asn)
n.15586A>T
c.15570A>T (p.Lys5190Asn)
c.15492A>T (p.Lys5164Asn)
c.12876A>T (p.Lys4292Asn)
c.15594A>T (p.Lys5198Asn)
c.15591A>T (p.Lys5197Asn)
c.15513A>T (p.Lys5171Asn)
c.15498A>T (p.Lys5166Asn)
c.15414A>T (p.Lys5138Asn)
c.*527A>T (n.*527A>T)
c.8712A>T (p.Lys2904Asn)
c.8691A>T (p.Lys2897Asn)
n.15589A>T
5g.90810834C>ACA360410095ADGRV1c.15574C>A (p.Leu5192Ile)
c.4528C>A (p.Leu1510Ile)
n.2841C>A
c.265+134625C>A (n.265+134625C>A)
c.1984C>A (p.Leu662Ile)
c.2557C>A (p.Leu853Ile)
n.15587C>A
c.15571C>A (p.Leu5191Ile)
c.15493C>A (p.Leu5165Ile)
c.12877C>A (p.Leu4293Ile)
c.15595C>A (p.Leu5199Ile)
c.15592C>A (p.Leu5198Ile)
c.15514C>A (p.Leu5172Ile)
c.15499C>A (p.Leu5167Ile)
c.15415C>A (p.Leu5139Ile)
c.*528C>A (n.*528C>A)
c.8713C>A (p.Leu2905Ile)
c.8692C>A (p.Leu2898Ile)
n.15590C>A
5g.90810834C>GCA360410093ADGRV1c.15574C>G (p.Leu5192Val)
c.4528C>G (p.Leu1510Val)
n.2841C>G
c.265+134625C>G (n.265+134625C>G)
c.1984C>G (p.Leu662Val)
c.2557C>G (p.Leu853Val)
n.15587C>G
c.15571C>G (p.Leu5191Val)
c.15493C>G (p.Leu5165Val)
c.12877C>G (p.Leu4293Val)
c.15595C>G (p.Leu5199Val)
c.15592C>G (p.Leu5198Val)
c.15514C>G (p.Leu5172Val)
c.15499C>G (p.Leu5167Val)
c.15415C>G (p.Leu5139Val)
c.*528C>G (n.*528C>G)
c.8713C>G (p.Leu2905Val)
c.8692C>G (p.Leu2898Val)
n.15590C>G
5g.90810834C>TCA360410092ADGRV1c.15574C>T (p.Leu5192Phe)
c.4528C>T (p.Leu1510Phe)
n.2841C>T
c.265+134625C>T (n.265+134625C>T)
c.1984C>T (p.Leu662Phe)
c.2557C>T (p.Leu853Phe)
n.15587C>T
c.15571C>T (p.Leu5191Phe)
c.15493C>T (p.Leu5165Phe)
c.12877C>T (p.Leu4293Phe)
c.15595C>T (p.Leu5199Phe)
c.15592C>T (p.Leu5198Phe)
c.15514C>T (p.Leu5172Phe)
c.15499C>T (p.Leu5167Phe)
c.15415C>T (p.Leu5139Phe)
c.*528C>T (n.*528C>T)
c.8713C>T (p.Leu2905Phe)
c.8692C>T (p.Leu2898Phe)
n.15590C>T
5g.90810835T>ACA360410096ADGRV1c.15575T>A (p.Leu5192His)
c.4529T>A (p.Leu1510His)
n.2842T>A
c.265+134626T>A (n.265+134626T>A)
c.1985T>A (p.Leu662His)
c.2558T>A (p.Leu853His)
n.15588T>A
c.15572T>A (p.Leu5191His)
c.15494T>A (p.Leu5165His)
c.12878T>A (p.Leu4293His)
c.15596T>A (p.Leu5199His)
c.15593T>A (p.Leu5198His)
c.15515T>A (p.Leu5172His)
c.15500T>A (p.Leu5167His)
c.15416T>A (p.Leu5139His)
c.8714T>A (p.Leu2905His)
c.8693T>A (p.Leu2898His)
n.15591T>A
5g.90810835T>CCA360410097ADGRV1c.15575T>C (p.Leu5192Pro)
c.4529T>C (p.Leu1510Pro)
n.2842T>C
c.265+134626T>C (n.265+134626T>C)
c.1985T>C (p.Leu662Pro)
c.2558T>C (p.Leu853Pro)
n.15588T>C
c.15572T>C (p.Leu5191Pro)
c.15494T>C (p.Leu5165Pro)
c.12878T>C (p.Leu4293Pro)
c.15596T>C (p.Leu5199Pro)
c.15593T>C (p.Leu5198Pro)
c.15515T>C (p.Leu5172Pro)
c.15500T>C (p.Leu5167Pro)
c.15416T>C (p.Leu5139Pro)
c.8714T>C (p.Leu2905Pro)
c.8693T>C (p.Leu2898Pro)
n.15591T>C
5g.90810835T>GCA360410099ADGRV1c.15575T>G (p.Leu5192Arg)
c.4529T>G (p.Leu1510Arg)
n.2842T>G
c.265+134626T>G (n.265+134626T>G)
c.1985T>G (p.Leu662Arg)
c.2558T>G (p.Leu853Arg)
n.15588T>G
c.15572T>G (p.Leu5191Arg)
c.15494T>G (p.Leu5165Arg)
c.12878T>G (p.Leu4293Arg)
c.15596T>G (p.Leu5199Arg)
c.15593T>G (p.Leu5198Arg)
c.15515T>G (p.Leu5172Arg)
c.15500T>G (p.Leu5167Arg)
c.15416T>G (p.Leu5139Arg)
c.8714T>G (p.Leu2905Arg)
c.8693T>G (p.Leu2898Arg)
n.15591T>G
5g.90810836T>ACA445467780ADGRV1c.15576T>A (p.Leu5192=)
c.4530T>A (p.Leu1510=)
n.2843T>A
c.265+134627T>A (n.265+134627T>A)
c.1986T>A (p.Leu662=)
c.2559T>A (p.Leu853=)
n.15589T>A
c.15573T>A (p.Leu5191=)
c.15495T>A (p.Leu5165=)
c.12879T>A (p.Leu4293=)
c.15597T>A (p.Leu5199=)
c.15594T>A (p.Leu5198=)
c.15516T>A (p.Leu5172=)
c.15501T>A (p.Leu5167=)
c.15417T>A (p.Leu5139=)
c.8715T>A (p.Leu2905=)
c.8694T>A (p.Leu2898=)
n.15592T>A
5g.90810836T>CCA445467782ADGRV1c.15576T>C (p.Leu5192=)
c.4530T>C (p.Leu1510=)
n.2843T>C
c.265+134627T>C (n.265+134627T>C)
c.1986T>C (p.Leu662=)
c.2559T>C (p.Leu853=)
n.15589T>C
c.15573T>C (p.Leu5191=)
c.15495T>C (p.Leu5165=)
c.12879T>C (p.Leu4293=)
c.15597T>C (p.Leu5199=)
c.15594T>C (p.Leu5198=)
c.15516T>C (p.Leu5172=)
c.15501T>C (p.Leu5167=)
c.15417T>C (p.Leu5139=)
c.8715T>C (p.Leu2905=)
c.8694T>C (p.Leu2898=)
n.15592T>C
 gnomAD v4
5g.90810836T>GCA445467781ADGRV1c.15576T>G (p.Leu5192=)
c.4530T>G (p.Leu1510=)
n.2843T>G
c.265+134627T>G (n.265+134627T>G)
c.1986T>G (p.Leu662=)
c.2559T>G (p.Leu853=)
n.15589T>G
c.15573T>G (p.Leu5191=)
c.15495T>G (p.Leu5165=)
c.12879T>G (p.Leu4293=)
c.15597T>G (p.Leu5199=)
c.15594T>G (p.Leu5198=)
c.15516T>G (p.Leu5172=)
c.15501T>G (p.Leu5167=)
c.15417T>G (p.Leu5139=)
c.8715T>G (p.Leu2905=)
c.8694T>G (p.Leu2898=)
n.15592T>G
5g.90810837G>ACA360410101ADGRV1c.15577G>A (p.Val5193Ile)
c.4531G>A (p.Val1511Ile)
n.2844G>A
c.265+134628G>A (n.265+134628G>A)
c.1987G>A (p.Val663Ile)
c.2560G>A (p.Val854Ile)
n.15590G>A
c.15574G>A (p.Val5192Ile)
c.15496G>A (p.Val5166Ile)
c.12880G>A (p.Val4294Ile)
c.15598G>A (p.Val5200Ile)
c.15595G>A (p.Val5199Ile)
c.15517G>A (p.Val5173Ile)
c.15502G>A (p.Val5168Ile)
c.15418G>A (p.Val5140Ile)
c.8716G>A (p.Val2906Ile)
c.8695G>A (p.Val2899Ile)
n.15593G>A
5g.90810837G>CCA360410102ADGRV1c.15577G>C (p.Val5193Leu)
c.4531G>C (p.Val1511Leu)
n.2844G>C
c.265+134628G>C (n.265+134628G>C)
c.1987G>C (p.Val663Leu)
c.2560G>C (p.Val854Leu)
n.15590G>C
c.15574G>C (p.Val5192Leu)
c.15496G>C (p.Val5166Leu)
c.12880G>C (p.Val4294Leu)
c.15598G>C (p.Val5200Leu)
c.15595G>C (p.Val5199Leu)
c.15517G>C (p.Val5173Leu)
c.15502G>C (p.Val5168Leu)
c.15418G>C (p.Val5140Leu)
c.8716G>C (p.Val2906Leu)
c.8695G>C (p.Val2899Leu)
n.15593G>C
5g.90810837G>TCA360410104ADGRV1c.15577G>T (p.Val5193Phe)
c.4531G>T (p.Val1511Phe)
n.2844G>T
c.265+134628G>T (n.265+134628G>T)
c.1987G>T (p.Val663Phe)
c.2560G>T (p.Val854Phe)
n.15590G>T
c.15574G>T (p.Val5192Phe)
c.15496G>T (p.Val5166Phe)
c.12880G>T (p.Val4294Phe)
c.15598G>T (p.Val5200Phe)
c.15595G>T (p.Val5199Phe)
c.15517G>T (p.Val5173Phe)
c.15502G>T (p.Val5168Phe)
c.15418G>T (p.Val5140Phe)
c.8716G>T (p.Val2906Phe)
c.8695G>T (p.Val2899Phe)
n.15593G>T
5g.90810838T>ACA360410105ADGRV1c.15578T>A (p.Val5193Asp)
c.4532T>A (p.Val1511Asp)
n.2845T>A
c.265+134629T>A (n.265+134629T>A)
c.1988T>A (p.Val663Asp)
c.2561T>A (p.Val854Asp)
n.15591T>A
c.15575T>A (p.Val5192Asp)
c.15497T>A (p.Val5166Asp)
c.12881T>A (p.Val4294Asp)
c.15599T>A (p.Val5200Asp)
c.15596T>A (p.Val5199Asp)
c.15518T>A (p.Val5173Asp)
c.15503T>A (p.Val5168Asp)
c.15419T>A (p.Val5140Asp)
c.8717T>A (p.Val2906Asp)
c.8696T>A (p.Val2899Asp)
n.15594T>A
5g.90810838T>CCA360410110ADGRV1c.15578T>C (p.Val5193Ala)
c.4532T>C (p.Val1511Ala)
n.2845T>C
c.265+134629T>C (n.265+134629T>C)
c.1988T>C (p.Val663Ala)
c.2561T>C (p.Val854Ala)
n.15591T>C
c.15575T>C (p.Val5192Ala)
c.15497T>C (p.Val5166Ala)
c.12881T>C (p.Val4294Ala)
c.15599T>C (p.Val5200Ala)
c.15596T>C (p.Val5199Ala)
c.15518T>C (p.Val5173Ala)
c.15503T>C (p.Val5168Ala)
c.15419T>C (p.Val5140Ala)
c.8717T>C (p.Val2906Ala)
c.8696T>C (p.Val2899Ala)
n.15594T>C
5g.90810838T>GCA360410108ADGRV1c.15578T>G (p.Val5193Gly)
c.4532T>G (p.Val1511Gly)
n.2845T>G
c.265+134629T>G (n.265+134629T>G)
c.1988T>G (p.Val663Gly)
c.2561T>G (p.Val854Gly)
n.15591T>G
c.15575T>G (p.Val5192Gly)
c.15497T>G (p.Val5166Gly)
c.12881T>G (p.Val4294Gly)
c.15599T>G (p.Val5200Gly)
c.15596T>G (p.Val5199Gly)
c.15518T>G (p.Val5173Gly)
c.15503T>G (p.Val5168Gly)
c.15419T>G (p.Val5140Gly)
c.8717T>G (p.Val2906Gly)
c.8696T>G (p.Val2899Gly)
n.15594T>G
5g.90810839C>ACA445467790ADGRV1c.15579C>A (p.Val5193=)
c.4533C>A (p.Val1511=)
n.2846C>A
c.265+134630C>A (n.265+134630C>A)
c.1989C>A (p.Val663=)
c.2562C>A (p.Val854=)
n.15592C>A
c.15576C>A (p.Val5192=)
c.15498C>A (p.Val5166=)
c.12882C>A (p.Val4294=)
c.15600C>A (p.Val5200=)
c.15597C>A (p.Val5199=)
c.15519C>A (p.Val5173=)
c.15504C>A (p.Val5168=)
c.15420C>A (p.Val5140=)
c.8718C>A (p.Val2906=)
c.8697C>A (p.Val2899=)
n.15595C>A
5g.90810839C>GCA445467791ADGRV1c.15579C>G (p.Val5193=)
c.4533C>G (p.Val1511=)
n.2846C>G
c.265+134630C>G (n.265+134630C>G)
c.1989C>G (p.Val663=)
c.2562C>G (p.Val854=)
n.15592C>G
c.15576C>G (p.Val5192=)
c.15498C>G (p.Val5166=)
c.12882C>G (p.Val4294=)
c.15600C>G (p.Val5200=)
c.15597C>G (p.Val5199=)
c.15519C>G (p.Val5173=)
c.15504C>G (p.Val5168=)
c.15420C>G (p.Val5140=)
c.8718C>G (p.Val2906=)
c.8697C>G (p.Val2899=)
n.15595C>G
5g.90810839C>TCA445467792ADGRV1c.15579C>T (p.Val5193=)
c.4533C>T (p.Val1511=)
n.2846C>T
c.265+134630C>T (n.265+134630C>T)
c.1989C>T (p.Val663=)
c.2562C>T (p.Val854=)
n.15592C>T
c.15576C>T (p.Val5192=)
c.15498C>T (p.Val5166=)
c.12882C>T (p.Val4294=)
c.15600C>T (p.Val5200=)
c.15597C>T (p.Val5199=)
c.15519C>T (p.Val5173=)
c.15504C>T (p.Val5168=)
c.15420C>T (p.Val5140=)
c.8718C>T (p.Val2906=)
c.8697C>T (p.Val2899=)
n.15595C>T
5g.90810843_90810856delCA2697546363ADGRV1c.15583_15596del (p.Leu5195CysfsTer4)
c.4537_4550del (p.Leu1513CysfsTer4)
n.2850_2863del
c.265+134634_265+134647del (n.265+134634_265+134647del)
c.1993_2006del (p.Leu665CysfsTer4)
c.2566_2579del (p.Leu856CysfsTer4)
n.15596_15609del
c.15580_15593del (p.Leu5194CysfsTer4)
c.15502_15515del (p.Leu5168CysfsTer4)
c.12886_12899del (p.Leu4296CysfsTer4)
c.15604_15617del (p.Leu5202CysfsTer4)
c.15601_15614del (p.Leu5201CysfsTer4)
c.15523_15536del (p.Leu5175CysfsTer4)
c.15508_15521del (p.Leu5170CysfsTer4)
c.15424_15437del (p.Leu5142CysfsTer4)
c.8722_8735del (p.Leu2908CysfsTer4)
c.8701_8714del (p.Leu2901CysfsTer4)
n.15599_15612del
 ClinVar

Number of alleles fetched