Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90763318_90763319delCA2674574418ADGRV1c.12134_12135del (p.Glu4045ValfsTer6)
c.1088_1089del (p.Glu363ValfsTer6)
c.265+87109_265+87110del (n.265+87109_265+87110del)
n.2553_2554del
n.711_712del
n.12147_12148del
c.12131_12132del (p.Glu4044ValfsTer6)
c.12053_12054del (p.Glu4018ValfsTer6)
c.9437_9438del (p.Glu3146ValfsTer6)
c.12155_12156del (p.Glu4052ValfsTer6)
c.12152_12153del (p.Glu4051ValfsTer6)
c.12074_12075del (p.Glu4025ValfsTer6)
c.12059_12060del (p.Glu4020ValfsTer6)
c.5273_5274del (p.Glu1758ValfsTer6)
c.5252_5253del (p.Glu1751ValfsTer6)
n.12150_12151del
 gnomAD v4
5g.90763319A>CCA360377136ADGRV1c.12135A>C (p.Glu4045Asp)
c.1089A>C (p.Glu363Asp)
c.265+87110A>C (n.265+87110A>C)
n.2554A>C
n.712A>C
n.12148A>C
c.12132A>C (p.Glu4044Asp)
c.12054A>C (p.Glu4018Asp)
c.9438A>C (p.Glu3146Asp)
c.12156A>C (p.Glu4052Asp)
c.12153A>C (p.Glu4051Asp)
c.12075A>C (p.Glu4025Asp)
c.12060A>C (p.Glu4020Asp)
c.5274A>C (p.Glu1758Asp)
c.5253A>C (p.Glu1751Asp)
n.12151A>C
5g.90763319A>GCA445406343ADGRV1c.12135A>G (p.Glu4045=)
c.1089A>G (p.Glu363=)
c.265+87110A>G (n.265+87110A>G)
n.2554A>G
n.712A>G
n.12148A>G
c.12132A>G (p.Glu4044=)
c.12054A>G (p.Glu4018=)
c.9438A>G (p.Glu3146=)
c.12156A>G (p.Glu4052=)
c.12153A>G (p.Glu4051=)
c.12075A>G (p.Glu4025=)
c.12060A>G (p.Glu4020=)
c.5274A>G (p.Glu1758=)
c.5253A>G (p.Glu1751=)
n.12151A>G
 ClinVar dbSNP
5g.90763319A>TCA360377137ADGRV1c.12135A>T (p.Glu4045Asp)
c.1089A>T (p.Glu363Asp)
c.265+87110A>T (n.265+87110A>T)
n.2554A>T
n.712A>T
n.12148A>T
c.12132A>T (p.Glu4044Asp)
c.12054A>T (p.Glu4018Asp)
c.9438A>T (p.Glu3146Asp)
c.12156A>T (p.Glu4052Asp)
c.12153A>T (p.Glu4051Asp)
c.12075A>T (p.Glu4025Asp)
c.12060A>T (p.Glu4020Asp)
c.5274A>T (p.Glu1758Asp)
c.5253A>T (p.Glu1751Asp)
n.12151A>T
5g.90763320T>ACA360377140ADGRV1c.12136T>A (p.Ser4046Thr)
c.1090T>A (p.Ser364Thr)
c.265+87111T>A (n.265+87111T>A)
n.2555T>A
n.713T>A
n.12149T>A
c.12133T>A (p.Ser4045Thr)
c.12055T>A (p.Ser4019Thr)
c.9439T>A (p.Ser3147Thr)
c.12157T>A (p.Ser4053Thr)
c.12154T>A (p.Ser4052Thr)
c.12076T>A (p.Ser4026Thr)
c.12061T>A (p.Ser4021Thr)
c.5275T>A (p.Ser1759Thr)
c.5254T>A (p.Ser1752Thr)
n.12152T>A
5g.90763320T>CCA360377143ADGRV1c.12136T>C (p.Ser4046Pro)
c.1090T>C (p.Ser364Pro)
c.265+87111T>C (n.265+87111T>C)
n.2555T>C
n.713T>C
n.12149T>C
c.12133T>C (p.Ser4045Pro)
c.12055T>C (p.Ser4019Pro)
c.9439T>C (p.Ser3147Pro)
c.12157T>C (p.Ser4053Pro)
c.12154T>C (p.Ser4052Pro)
c.12076T>C (p.Ser4026Pro)
c.12061T>C (p.Ser4021Pro)
c.5275T>C (p.Ser1759Pro)
c.5254T>C (p.Ser1752Pro)
n.12152T>C
 gnomAD v4
5g.90763320T>GCA360377148ADGRV1c.12136T>G (p.Ser4046Ala)
c.1090T>G (p.Ser364Ala)
c.265+87111T>G (n.265+87111T>G)
n.2555T>G
n.713T>G
n.12149T>G
c.12133T>G (p.Ser4045Ala)
c.12055T>G (p.Ser4019Ala)
c.9439T>G (p.Ser3147Ala)
c.12157T>G (p.Ser4053Ala)
c.12154T>G (p.Ser4052Ala)
c.12076T>G (p.Ser4026Ala)
c.12061T>G (p.Ser4021Ala)
c.5275T>G (p.Ser1759Ala)
c.5254T>G (p.Ser1752Ala)
n.12152T>G
5g.90763321C>ACA360377162ADGRV1c.12137C>A (p.Ser4046Tyr)
c.1091C>A (p.Ser364Tyr)
c.265+87112C>A (n.265+87112C>A)
n.2556C>A
n.714C>A
n.12150C>A
c.12134C>A (p.Ser4045Tyr)
c.12056C>A (p.Ser4019Tyr)
c.9440C>A (p.Ser3147Tyr)
c.12158C>A (p.Ser4053Tyr)
c.12155C>A (p.Ser4052Tyr)
c.12077C>A (p.Ser4026Tyr)
c.12062C>A (p.Ser4021Tyr)
c.5276C>A (p.Ser1759Tyr)
c.5255C>A (p.Ser1752Tyr)
n.12153C>A
 gnomAD v4
5g.90763321C>GCA360377157ADGRV1c.12137C>G (p.Ser4046Cys)
c.1091C>G (p.Ser364Cys)
c.265+87112C>G (n.265+87112C>G)
n.2556C>G
n.714C>G
n.12150C>G
c.12134C>G (p.Ser4045Cys)
c.12056C>G (p.Ser4019Cys)
c.9440C>G (p.Ser3147Cys)
c.12158C>G (p.Ser4053Cys)
c.12155C>G (p.Ser4052Cys)
c.12077C>G (p.Ser4026Cys)
c.12062C>G (p.Ser4021Cys)
c.5276C>G (p.Ser1759Cys)
c.5255C>G (p.Ser1752Cys)
n.12153C>G
5g.90763321C>TCA360377153ADGRV1c.12137C>T (p.Ser4046Phe)
c.1091C>T (p.Ser364Phe)
c.265+87112C>T (n.265+87112C>T)
n.2556C>T
n.714C>T
n.12150C>T
c.12134C>T (p.Ser4045Phe)
c.12056C>T (p.Ser4019Phe)
c.9440C>T (p.Ser3147Phe)
c.12158C>T (p.Ser4053Phe)
c.12155C>T (p.Ser4052Phe)
c.12077C>T (p.Ser4026Phe)
c.12062C>T (p.Ser4021Phe)
c.5276C>T (p.Ser1759Phe)
c.5255C>T (p.Ser1752Phe)
n.12153C>T
 gnomAD v4 COSMIC
5g.90763322C>ACA445406358ADGRV1c.12138C>A (p.Ser4046=)
c.1092C>A (p.Ser364=)
c.265+87113C>A (n.265+87113C>A)
n.2557C>A
n.715C>A
n.12151C>A
c.12135C>A (p.Ser4045=)
c.12057C>A (p.Ser4019=)
c.9441C>A (p.Ser3147=)
c.12159C>A (p.Ser4053=)
c.12156C>A (p.Ser4052=)
c.12078C>A (p.Ser4026=)
c.12063C>A (p.Ser4021=)
c.5277C>A (p.Ser1759=)
c.5256C>A (p.Ser1752=)
n.12154C>A
 gnomAD v4
5g.90763322C>GCA445406357ADGRV1c.12138C>G (p.Ser4046=)
c.1092C>G (p.Ser364=)
c.265+87113C>G (n.265+87113C>G)
n.2557C>G
n.715C>G
n.12151C>G
c.12135C>G (p.Ser4045=)
c.12057C>G (p.Ser4019=)
c.9441C>G (p.Ser3147=)
c.12159C>G (p.Ser4053=)
c.12156C>G (p.Ser4052=)
c.12078C>G (p.Ser4026=)
c.12063C>G (p.Ser4021=)
c.5277C>G (p.Ser1759=)
c.5256C>G (p.Ser1752=)
n.12154C>G
5g.90763322C>TCA445406356ADGRV1c.12138C>T (p.Ser4046=)
c.1092C>T (p.Ser364=)
c.265+87113C>T (n.265+87113C>T)
n.2557C>T
n.715C>T
n.12151C>T
c.12135C>T (p.Ser4045=)
c.12057C>T (p.Ser4019=)
c.9441C>T (p.Ser3147=)
c.12159C>T (p.Ser4053=)
c.12156C>T (p.Ser4052=)
c.12078C>T (p.Ser4026=)
c.12063C>T (p.Ser4021=)
c.5277C>T (p.Ser1759=)
c.5256C>T (p.Ser1752=)
n.12154C>T
5g.90763323C>ACA360377167ADGRV1c.12139C>A (p.Leu4047Ile)
c.1093C>A (p.Leu365Ile)
c.265+87114C>A (n.265+87114C>A)
n.2558C>A
n.716C>A
n.12152C>A
c.12136C>A (p.Leu4046Ile)
c.12058C>A (p.Leu4020Ile)
c.9442C>A (p.Leu3148Ile)
c.12160C>A (p.Leu4054Ile)
c.12157C>A (p.Leu4053Ile)
c.12079C>A (p.Leu4027Ile)
c.12064C>A (p.Leu4022Ile)
c.5278C>A (p.Leu1760Ile)
c.5257C>A (p.Leu1753Ile)
n.12155C>A
 gnomAD v4
5g.90763323C>GCA360377173ADGRV1c.12139C>G (p.Leu4047Val)
c.1093C>G (p.Leu365Val)
c.265+87114C>G (n.265+87114C>G)
n.2558C>G
n.716C>G
n.12152C>G
c.12136C>G (p.Leu4046Val)
c.12058C>G (p.Leu4020Val)
c.9442C>G (p.Leu3148Val)
c.12160C>G (p.Leu4054Val)
c.12157C>G (p.Leu4053Val)
c.12079C>G (p.Leu4027Val)
c.12064C>G (p.Leu4022Val)
c.5278C>G (p.Leu1760Val)
c.5257C>G (p.Leu1753Val)
n.12155C>G
 gnomAD v4
5g.90763323C>TCA360377176ADGRV1c.12139C>T (p.Leu4047Phe)
c.1093C>T (p.Leu365Phe)
c.265+87114C>T (n.265+87114C>T)
n.2558C>T
n.716C>T
n.12152C>T
c.12136C>T (p.Leu4046Phe)
c.12058C>T (p.Leu4020Phe)
c.9442C>T (p.Leu3148Phe)
c.12160C>T (p.Leu4054Phe)
c.12157C>T (p.Leu4053Phe)
c.12079C>T (p.Leu4027Phe)
c.12064C>T (p.Leu4022Phe)
c.5278C>T (p.Leu1760Phe)
c.5257C>T (p.Leu1753Phe)
n.12155C>T
5g.90763324T>ACA360377180ADGRV1c.12140T>A (p.Leu4047His)
c.1094T>A (p.Leu365His)
c.265+87115T>A (n.265+87115T>A)
n.2559T>A
n.717T>A
n.12153T>A
c.12137T>A (p.Leu4046His)
c.12059T>A (p.Leu4020His)
c.9443T>A (p.Leu3148His)
c.12161T>A (p.Leu4054His)
c.12158T>A (p.Leu4053His)
c.12080T>A (p.Leu4027His)
c.12065T>A (p.Leu4022His)
c.5279T>A (p.Leu1760His)
c.5258T>A (p.Leu1753His)
n.12156T>A
5g.90763324T>CCA360377199ADGRV1c.12140T>C (p.Leu4047Pro)
c.1094T>C (p.Leu365Pro)
c.265+87115T>C (n.265+87115T>C)
n.2559T>C
n.717T>C
n.12153T>C
c.12137T>C (p.Leu4046Pro)
c.12059T>C (p.Leu4020Pro)
c.9443T>C (p.Leu3148Pro)
c.12161T>C (p.Leu4054Pro)
c.12158T>C (p.Leu4053Pro)
c.12080T>C (p.Leu4027Pro)
c.12065T>C (p.Leu4022Pro)
c.5279T>C (p.Leu1760Pro)
c.5258T>C (p.Leu1753Pro)
n.12156T>C
 dbSNP
5g.90763324T>GCA360377202ADGRV1c.12140T>G (p.Leu4047Arg)
c.1094T>G (p.Leu365Arg)
c.265+87115T>G (n.265+87115T>G)
n.2559T>G
n.717T>G
n.12153T>G
c.12137T>G (p.Leu4046Arg)
c.12059T>G (p.Leu4020Arg)
c.9443T>G (p.Leu3148Arg)
c.12161T>G (p.Leu4054Arg)
c.12158T>G (p.Leu4053Arg)
c.12080T>G (p.Leu4027Arg)
c.12065T>G (p.Leu4022Arg)
c.5279T>G (p.Leu1760Arg)
c.5258T>G (p.Leu1753Arg)
n.12156T>G
5g.90763325T>ACA445406370ADGRV1c.12141T>A (p.Leu4047=)
c.1095T>A (p.Leu365=)
c.265+87116T>A (n.265+87116T>A)
n.2560T>A
n.718T>A
n.12154T>A
c.12138T>A (p.Leu4046=)
c.12060T>A (p.Leu4020=)
c.9444T>A (p.Leu3148=)
c.12162T>A (p.Leu4054=)
c.12159T>A (p.Leu4053=)
c.12081T>A (p.Leu4027=)
c.12066T>A (p.Leu4022=)
c.5280T>A (p.Leu1760=)
c.5259T>A (p.Leu1753=)
n.12157T>A
5g.90763325T>CCA445406372ADGRV1c.12141T>C (p.Leu4047=)
c.1095T>C (p.Leu365=)
c.265+87116T>C (n.265+87116T>C)
n.2560T>C
n.718T>C
n.12154T>C
c.12138T>C (p.Leu4046=)
c.12060T>C (p.Leu4020=)
c.9444T>C (p.Leu3148=)
c.12162T>C (p.Leu4054=)
c.12159T>C (p.Leu4053=)
c.12081T>C (p.Leu4027=)
c.12066T>C (p.Leu4022=)
c.5280T>C (p.Leu1760=)
c.5259T>C (p.Leu1753=)
n.12157T>C
5g.90763325T>GCA445406375ADGRV1c.12141T>G (p.Leu4047=)
c.1095T>G (p.Leu365=)
c.265+87116T>G (n.265+87116T>G)
n.2560T>G
n.718T>G
n.12154T>G
c.12138T>G (p.Leu4046=)
c.12060T>G (p.Leu4020=)
c.9444T>G (p.Leu3148=)
c.12162T>G (p.Leu4054=)
c.12159T>G (p.Leu4053=)
c.12081T>G (p.Leu4027=)
c.12066T>G (p.Leu4022=)
c.5280T>G (p.Leu1760=)
c.5259T>G (p.Leu1753=)
n.12157T>G
5g.90763326T>ACA360377207ADGRV1c.12142T>A (p.Ser4048Thr)
c.1096T>A (p.Ser366Thr)
c.265+87117T>A (n.265+87117T>A)
n.2561T>A
n.719T>A
n.12155T>A
c.12139T>A (p.Ser4047Thr)
c.12061T>A (p.Ser4021Thr)
c.9445T>A (p.Ser3149Thr)
c.12163T>A (p.Ser4055Thr)
c.12160T>A (p.Ser4054Thr)
c.12082T>A (p.Ser4028Thr)
c.12067T>A (p.Ser4023Thr)
c.5281T>A (p.Ser1761Thr)
c.5260T>A (p.Ser1754Thr)
n.12158T>A
5g.90763326T>CCA360377209ADGRV1c.12142T>C (p.Ser4048Pro)
c.1096T>C (p.Ser366Pro)
c.265+87117T>C (n.265+87117T>C)
n.2561T>C
n.719T>C
n.12155T>C
c.12139T>C (p.Ser4047Pro)
c.12061T>C (p.Ser4021Pro)
c.9445T>C (p.Ser3149Pro)
c.12163T>C (p.Ser4055Pro)
c.12160T>C (p.Ser4054Pro)
c.12082T>C (p.Ser4028Pro)
c.12067T>C (p.Ser4023Pro)
c.5281T>C (p.Ser1761Pro)
c.5260T>C (p.Ser1754Pro)
n.12158T>C
5g.90763326T>GCA360377212ADGRV1c.12142T>G (p.Ser4048Ala)
c.1096T>G (p.Ser366Ala)
c.265+87117T>G (n.265+87117T>G)
n.2561T>G
n.719T>G
n.12155T>G
c.12139T>G (p.Ser4047Ala)
c.12061T>G (p.Ser4021Ala)
c.9445T>G (p.Ser3149Ala)
c.12163T>G (p.Ser4055Ala)
c.12160T>G (p.Ser4054Ala)
c.12082T>G (p.Ser4028Ala)
c.12067T>G (p.Ser4023Ala)
c.5281T>G (p.Ser1761Ala)
c.5260T>G (p.Ser1754Ala)
n.12158T>G
5g.90763327C>ACA360377219ADGRV1c.12143C>A (p.Ser4048Ter)
c.1097C>A (p.Ser366Ter)
c.265+87118C>A (n.265+87118C>A)
n.2562C>A
n.720C>A
n.12156C>A
c.12140C>A (p.Ser4047Ter)
c.12062C>A (p.Ser4021Ter)
c.9446C>A (p.Ser3149Ter)
c.12164C>A (p.Ser4055Ter)
c.12161C>A (p.Ser4054Ter)
c.12083C>A (p.Ser4028Ter)
c.12068C>A (p.Ser4023Ter)
c.5282C>A (p.Ser1761Ter)
c.5261C>A (p.Ser1754Ter)
n.12159C>A
 ClinVar dbSNP gnomAD v4
5g.90763327C>GCA360377226ADGRV1c.12143C>G (p.Ser4048Ter)
c.1097C>G (p.Ser366Ter)
c.265+87118C>G (n.265+87118C>G)
n.2562C>G
n.720C>G
n.12156C>G
c.12140C>G (p.Ser4047Ter)
c.12062C>G (p.Ser4021Ter)
c.9446C>G (p.Ser3149Ter)
c.12164C>G (p.Ser4055Ter)
c.12161C>G (p.Ser4054Ter)
c.12083C>G (p.Ser4028Ter)
c.12068C>G (p.Ser4023Ter)
c.5282C>G (p.Ser1761Ter)
c.5261C>G (p.Ser1754Ter)
n.12159C>G
5g.90763327C>TCA360377229ADGRV1c.12143C>T (p.Ser4048Leu)
c.1097C>T (p.Ser366Leu)
c.265+87118C>T (n.265+87118C>T)
n.2562C>T
n.720C>T
n.12156C>T
c.12140C>T (p.Ser4047Leu)
c.12062C>T (p.Ser4021Leu)
c.9446C>T (p.Ser3149Leu)
c.12164C>T (p.Ser4055Leu)
c.12161C>T (p.Ser4054Leu)
c.12083C>T (p.Ser4028Leu)
c.12068C>T (p.Ser4023Leu)
c.5282C>T (p.Ser1761Leu)
c.5261C>T (p.Ser1754Leu)
n.12159C>T
5g.90763328A>CCA445406384ADGRV1c.12144A>C (p.Ser4048=)
c.1098A>C (p.Ser366=)
c.265+87119A>C (n.265+87119A>C)
n.2563A>C
n.721A>C
n.12157A>C
c.12141A>C (p.Ser4047=)
c.12063A>C (p.Ser4021=)
c.9447A>C (p.Ser3149=)
c.12165A>C (p.Ser4055=)
c.12162A>C (p.Ser4054=)
c.12084A>C (p.Ser4028=)
c.12069A>C (p.Ser4023=)
c.5283A>C (p.Ser1761=)
c.5262A>C (p.Ser1754=)
n.12160A>C
5g.90763328A>GCA445406386ADGRV1c.12144A>G (p.Ser4048=)
c.1098A>G (p.Ser366=)
c.265+87119A>G (n.265+87119A>G)
n.2563A>G
n.721A>G
n.12157A>G
c.12141A>G (p.Ser4047=)
c.12063A>G (p.Ser4021=)
c.9447A>G (p.Ser3149=)
c.12165A>G (p.Ser4055=)
c.12162A>G (p.Ser4054=)
c.12084A>G (p.Ser4028=)
c.12069A>G (p.Ser4023=)
c.5283A>G (p.Ser1761=)
c.5262A>G (p.Ser1754=)
n.12160A>G
 dbSNP
5g.90763328A>TCA445406387ADGRV1c.12144A>T (p.Ser4048=)
c.1098A>T (p.Ser366=)
c.265+87119A>T (n.265+87119A>T)
n.2563A>T
n.721A>T
n.12157A>T
c.12141A>T (p.Ser4047=)
c.12063A>T (p.Ser4021=)
c.9447A>T (p.Ser3149=)
c.12165A>T (p.Ser4055=)
c.12162A>T (p.Ser4054=)
c.12084A>T (p.Ser4028=)
c.12069A>T (p.Ser4023=)
c.5283A>T (p.Ser1761=)
c.5262A>T (p.Ser1754=)
n.12160A>T
5g.90763329T>ACA360377243ADGRV1c.12145T>A (p.Ser4049Thr)
c.1099T>A (p.Ser367Thr)
c.265+87120T>A (n.265+87120T>A)
n.2564T>A
n.722T>A
n.12158T>A
c.12142T>A (p.Ser4048Thr)
c.12064T>A (p.Ser4022Thr)
c.9448T>A (p.Ser3150Thr)
c.12166T>A (p.Ser4056Thr)
c.12163T>A (p.Ser4055Thr)
c.12085T>A (p.Ser4029Thr)
c.12070T>A (p.Ser4024Thr)
c.5284T>A (p.Ser1762Thr)
c.5263T>A (p.Ser1755Thr)
n.12161T>A
5g.90763329T>CCA360377239ADGRV1c.12145T>C (p.Ser4049Pro)
c.1099T>C (p.Ser367Pro)
c.265+87120T>C (n.265+87120T>C)
n.2564T>C
n.722T>C
n.12158T>C
c.12142T>C (p.Ser4048Pro)
c.12064T>C (p.Ser4022Pro)
c.9448T>C (p.Ser3150Pro)
c.12166T>C (p.Ser4056Pro)
c.12163T>C (p.Ser4055Pro)
c.12085T>C (p.Ser4029Pro)
c.12070T>C (p.Ser4024Pro)
c.5284T>C (p.Ser1762Pro)
c.5263T>C (p.Ser1755Pro)
n.12161T>C
 gnomAD v4
5g.90763329T>GCA360377234ADGRV1c.12145T>G (p.Ser4049Ala)
c.1099T>G (p.Ser367Ala)
c.265+87120T>G (n.265+87120T>G)
n.2564T>G
n.722T>G
n.12158T>G
c.12142T>G (p.Ser4048Ala)
c.12064T>G (p.Ser4022Ala)
c.9448T>G (p.Ser3150Ala)
c.12166T>G (p.Ser4056Ala)
c.12163T>G (p.Ser4055Ala)
c.12085T>G (p.Ser4029Ala)
c.12070T>G (p.Ser4024Ala)
c.5284T>G (p.Ser1762Ala)
c.5263T>G (p.Ser1755Ala)
n.12161T>G
5g.90763330C>ACA360377247ADGRV1c.12146C>A (p.Ser4049Tyr)
c.1100C>A (p.Ser367Tyr)
c.265+87121C>A (n.265+87121C>A)
n.2565C>A
n.723C>A
n.12159C>A
c.12143C>A (p.Ser4048Tyr)
c.12065C>A (p.Ser4022Tyr)
c.9449C>A (p.Ser3150Tyr)
c.12167C>A (p.Ser4056Tyr)
c.12164C>A (p.Ser4055Tyr)
c.12086C>A (p.Ser4029Tyr)
c.12071C>A (p.Ser4024Tyr)
c.5285C>A (p.Ser1762Tyr)
c.5264C>A (p.Ser1755Tyr)
n.12162C>A
 gnomAD v4
5g.90763330C>GCA360377250ADGRV1c.12146C>G (p.Ser4049Cys)
c.1100C>G (p.Ser367Cys)
c.265+87121C>G (n.265+87121C>G)
n.2565C>G
n.723C>G
n.12159C>G
c.12143C>G (p.Ser4048Cys)
c.12065C>G (p.Ser4022Cys)
c.9449C>G (p.Ser3150Cys)
c.12167C>G (p.Ser4056Cys)
c.12164C>G (p.Ser4055Cys)
c.12086C>G (p.Ser4029Cys)
c.12071C>G (p.Ser4024Cys)
c.5285C>G (p.Ser1762Cys)
c.5264C>G (p.Ser1755Cys)
n.12162C>G
5g.90763330C>TCA360377254ADGRV1c.12146C>T (p.Ser4049Phe)
c.1100C>T (p.Ser367Phe)
c.265+87121C>T (n.265+87121C>T)
n.2565C>T
n.723C>T
n.12159C>T
c.12143C>T (p.Ser4048Phe)
c.12065C>T (p.Ser4022Phe)
c.9449C>T (p.Ser3150Phe)
c.12167C>T (p.Ser4056Phe)
c.12164C>T (p.Ser4055Phe)
c.12086C>T (p.Ser4029Phe)
c.12071C>T (p.Ser4024Phe)
c.5285C>T (p.Ser1762Phe)
c.5264C>T (p.Ser1755Phe)
n.12162C>T
 COSMIC
5g.90763331C>ACA445406393ADGRV1c.12147C>A (p.Ser4049=)
c.1101C>A (p.Ser367=)
c.265+87122C>A (n.265+87122C>A)
n.2566C>A
n.724C>A
n.12160C>A
c.12144C>A (p.Ser4048=)
c.12066C>A (p.Ser4022=)
c.9450C>A (p.Ser3150=)
c.12168C>A (p.Ser4056=)
c.12165C>A (p.Ser4055=)
c.12087C>A (p.Ser4029=)
c.12072C>A (p.Ser4024=)
c.5286C>A (p.Ser1762=)
c.5265C>A (p.Ser1755=)
n.12163C>A
 gnomAD v4
5g.90763331C=CA1562889870ADGRV1c.12147C= (p.Ser4049=)
c.1101C= (p.Ser367=)
c.265+87122C= (n.265+87122C=)
n.2566C=
n.724C=
n.12160C=
c.12144C= (p.Ser4048=)
c.12066C= (p.Ser4022=)
c.9450C= (p.Ser3150=)
c.12168C= (p.Ser4056=)
c.12165C= (p.Ser4055=)
c.12087C= (p.Ser4029=)
c.12072C= (p.Ser4024=)
c.5286C= (p.Ser1762=)
c.5265C= (p.Ser1755=)
n.12163C=
5g.90763331C>GCA445406395ADGRV1c.12147C>G (p.Ser4049=)
c.1101C>G (p.Ser367=)
c.265+87122C>G (n.265+87122C>G)
n.2566C>G
n.724C>G
n.12160C>G
c.12144C>G (p.Ser4048=)
c.12066C>G (p.Ser4022=)
c.9450C>G (p.Ser3150=)
c.12168C>G (p.Ser4056=)
c.12165C>G (p.Ser4055=)
c.12087C>G (p.Ser4029=)
c.12072C>G (p.Ser4024=)
c.5286C>G (p.Ser1762=)
c.5265C>G (p.Ser1755=)
n.12163C>G
5g.90763331C>TCA445406396ADGRV1c.12147C>T (p.Ser4049=)
c.1101C>T (p.Ser367=)
c.265+87122C>T (n.265+87122C>T)
n.2566C>T
n.724C>T
n.12160C>T
c.12144C>T (p.Ser4048=)
c.12066C>T (p.Ser4022=)
c.9450C>T (p.Ser3150=)
c.12168C>T (p.Ser4056=)
c.12165C>T (p.Ser4055=)
c.12087C>T (p.Ser4029=)
c.12072C>T (p.Ser4024=)
c.5286C>T (p.Ser1762=)
c.5265C>T (p.Ser1755=)
n.12163C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90763332G>ACA3341162ADGRV1c.12148G>A (p.Asp4050Asn)
c.1102G>A (p.Asp368Asn)
c.265+87123G>A (n.265+87123G>A)
n.2567G>A
n.725G>A
n.12161G>A
c.12145G>A (p.Asp4049Asn)
c.12067G>A (p.Asp4023Asn)
c.9451G>A (p.Asp3151Asn)
c.12169G>A (p.Asp4057Asn)
c.12166G>A (p.Asp4056Asn)
c.12088G>A (p.Asp4030Asn)
c.12073G>A (p.Asp4025Asn)
c.5287G>A (p.Asp1763Asn)
c.5266G>A (p.Asp1756Asn)
n.12164G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763332G>CCA360377263ADGRV1c.12148G>C (p.Asp4050His)
c.1102G>C (p.Asp368His)
c.265+87123G>C (n.265+87123G>C)
n.2567G>C
n.725G>C
n.12161G>C
c.12145G>C (p.Asp4049His)
c.12067G>C (p.Asp4023His)
c.9451G>C (p.Asp3151His)
c.12169G>C (p.Asp4057His)
c.12166G>C (p.Asp4056His)
c.12088G>C (p.Asp4030His)
c.12073G>C (p.Asp4025His)
c.5287G>C (p.Asp1763His)
c.5266G>C (p.Asp1756His)
n.12164G>C
5g.90763332G=CA1562889871ADGRV1c.12148G= (p.Asp4050=)
c.1102G= (p.Asp368=)
c.265+87123G= (n.265+87123G=)
n.2567G=
n.725G=
n.12161G=
c.12145G= (p.Asp4049=)
c.12067G= (p.Asp4023=)
c.9451G= (p.Asp3151=)
c.12169G= (p.Asp4057=)
c.12166G= (p.Asp4056=)
c.12088G= (p.Asp4030=)
c.12073G= (p.Asp4025=)
c.5287G= (p.Asp1763=)
c.5266G= (p.Asp1756=)
n.12164G=
5g.90763332G>TCA360377274ADGRV1c.12148G>T (p.Asp4050Tyr)
c.1102G>T (p.Asp368Tyr)
c.265+87123G>T (n.265+87123G>T)
n.2567G>T
n.725G>T
n.12161G>T
c.12145G>T (p.Asp4049Tyr)
c.12067G>T (p.Asp4023Tyr)
c.9451G>T (p.Asp3151Tyr)
c.12169G>T (p.Asp4057Tyr)
c.12166G>T (p.Asp4056Tyr)
c.12088G>T (p.Asp4030Tyr)
c.12073G>T (p.Asp4025Tyr)
c.5287G>T (p.Asp1763Tyr)
c.5266G>T (p.Asp1756Tyr)
n.12164G>T
 gnomAD v4
5g.90763333A>CCA360377288ADGRV1c.12149A>C (p.Asp4050Ala)
c.1103A>C (p.Asp368Ala)
c.265+87124A>C (n.265+87124A>C)
n.2568A>C
n.726A>C
n.12162A>C
c.12146A>C (p.Asp4049Ala)
c.12068A>C (p.Asp4023Ala)
c.9452A>C (p.Asp3151Ala)
c.12170A>C (p.Asp4057Ala)
c.12167A>C (p.Asp4056Ala)
c.12089A>C (p.Asp4030Ala)
c.12074A>C (p.Asp4025Ala)
c.5288A>C (p.Asp1763Ala)
c.5267A>C (p.Asp1756Ala)
n.12165A>C
5g.90763333A>GCA360377279ADGRV1c.12149A>G (p.Asp4050Gly)
c.1103A>G (p.Asp368Gly)
c.265+87124A>G (n.265+87124A>G)
n.2568A>G
n.726A>G
n.12162A>G
c.12146A>G (p.Asp4049Gly)
c.12068A>G (p.Asp4023Gly)
c.9452A>G (p.Asp3151Gly)
c.12170A>G (p.Asp4057Gly)
c.12167A>G (p.Asp4056Gly)
c.12089A>G (p.Asp4030Gly)
c.12074A>G (p.Asp4025Gly)
c.5288A>G (p.Asp1763Gly)
c.5267A>G (p.Asp1756Gly)
n.12165A>G
5g.90763333A>TCA360377282ADGRV1c.12149A>T (p.Asp4050Val)
c.1103A>T (p.Asp368Val)
c.265+87124A>T (n.265+87124A>T)
n.2568A>T
n.726A>T
n.12162A>T
c.12146A>T (p.Asp4049Val)
c.12068A>T (p.Asp4023Val)
c.9452A>T (p.Asp3151Val)
c.12170A>T (p.Asp4057Val)
c.12167A>T (p.Asp4056Val)
c.12089A>T (p.Asp4030Val)
c.12074A>T (p.Asp4025Val)
c.5288A>T (p.Asp1763Val)
c.5267A>T (p.Asp1756Val)
n.12165A>T
5g.90763333dupCA2674574432ADGRV1c.12149dup (p.Asp4050GlufsTer2)
c.1103dup (p.Asp368GlufsTer2)
c.265+87124dup (n.265+87124dup)
n.2568dup
n.726dup
n.12162dup
c.12146dup (p.Asp4049GlufsTer2)
c.12068dup (p.Asp4023GlufsTer2)
c.9452dup (p.Asp3151GlufsTer2)
c.12170dup (p.Asp4057GlufsTer2)
c.12167dup (p.Asp4056GlufsTer2)
c.12089dup (p.Asp4030GlufsTer2)
c.12074dup (p.Asp4025GlufsTer2)
c.5288dup (p.Asp1763GlufsTer2)
c.5267dup (p.Asp1756GlufsTer2)
n.12165dup
 gnomAD v4
5g.90763334T>ACA360377293ADGRV1c.12150T>A (p.Asp4050Glu)
c.1104T>A (p.Asp368Glu)
c.265+87125T>A (n.265+87125T>A)
n.2569T>A
n.727T>A
n.12163T>A
c.12147T>A (p.Asp4049Glu)
c.12069T>A (p.Asp4023Glu)
c.9453T>A (p.Asp3151Glu)
c.12171T>A (p.Asp4057Glu)
c.12168T>A (p.Asp4056Glu)
c.12090T>A (p.Asp4030Glu)
c.12075T>A (p.Asp4025Glu)
c.5289T>A (p.Asp1763Glu)
c.5268T>A (p.Asp1756Glu)
n.12166T>A
5g.90763334T>CCA445406402ADGRV1c.12150T>C (p.Asp4050=)
c.1104T>C (p.Asp368=)
c.265+87125T>C (n.265+87125T>C)
n.2569T>C
n.727T>C
n.12163T>C
c.12147T>C (p.Asp4049=)
c.12069T>C (p.Asp4023=)
c.9453T>C (p.Asp3151=)
c.12171T>C (p.Asp4057=)
c.12168T>C (p.Asp4056=)
c.12090T>C (p.Asp4030=)
c.12075T>C (p.Asp4025=)
c.5289T>C (p.Asp1763=)
c.5268T>C (p.Asp1756=)
n.12166T>C
 ClinVar dbSNP gnomAD v4
5g.90763334T>GCA360377298ADGRV1c.12150T>G (p.Asp4050Glu)
c.1104T>G (p.Asp368Glu)
c.265+87125T>G (n.265+87125T>G)
n.2569T>G
n.727T>G
n.12163T>G
c.12147T>G (p.Asp4049Glu)
c.12069T>G (p.Asp4023Glu)
c.9453T>G (p.Asp3151Glu)
c.12171T>G (p.Asp4057Glu)
c.12168T>G (p.Asp4056Glu)
c.12090T>G (p.Asp4030Glu)
c.12075T>G (p.Asp4025Glu)
c.5289T>G (p.Asp1763Glu)
c.5268T>G (p.Asp1756Glu)
n.12166T>G
5g.90763335G>ACA360377303ADGRV1c.12151G>A (p.Asp4051Asn)
c.1105G>A (p.Asp369Asn)
c.265+87126G>A (n.265+87126G>A)
n.2570G>A
n.728G>A
n.12164G>A
c.12148G>A (p.Asp4050Asn)
c.12070G>A (p.Asp4024Asn)
c.9454G>A (p.Asp3152Asn)
c.12172G>A (p.Asp4058Asn)
c.12169G>A (p.Asp4057Asn)
c.12091G>A (p.Asp4031Asn)
c.12076G>A (p.Asp4026Asn)
c.5290G>A (p.Asp1764Asn)
c.5269G>A (p.Asp1757Asn)
n.12167G>A
5g.90763335G>CCA360377310ADGRV1c.12151G>C (p.Asp4051His)
c.1105G>C (p.Asp369His)
c.265+87126G>C (n.265+87126G>C)
n.2570G>C
n.728G>C
n.12164G>C
c.12148G>C (p.Asp4050His)
c.12070G>C (p.Asp4024His)
c.9454G>C (p.Asp3152His)
c.12172G>C (p.Asp4058His)
c.12169G>C (p.Asp4057His)
c.12091G>C (p.Asp4031His)
c.12076G>C (p.Asp4026His)
c.5290G>C (p.Asp1764His)
c.5269G>C (p.Asp1757His)
n.12167G>C
5g.90763335G>TCA360377311ADGRV1c.12151G>T (p.Asp4051Tyr)
c.1105G>T (p.Asp369Tyr)
c.265+87126G>T (n.265+87126G>T)
n.2570G>T
n.728G>T
n.12164G>T
c.12148G>T (p.Asp4050Tyr)
c.12070G>T (p.Asp4024Tyr)
c.9454G>T (p.Asp3152Tyr)
c.12172G>T (p.Asp4058Tyr)
c.12169G>T (p.Asp4057Tyr)
c.12091G>T (p.Asp4031Tyr)
c.12076G>T (p.Asp4026Tyr)
c.5290G>T (p.Asp1764Tyr)
c.5269G>T (p.Asp1757Tyr)
n.12167G>T
5g.90763336A>CCA360377312ADGRV1c.12152A>C (p.Asp4051Ala)
c.1106A>C (p.Asp369Ala)
c.265+87127A>C (n.265+87127A>C)
n.2571A>C
n.729A>C
n.12165A>C
c.12149A>C (p.Asp4050Ala)
c.12071A>C (p.Asp4024Ala)
c.9455A>C (p.Asp3152Ala)
c.12173A>C (p.Asp4058Ala)
c.12170A>C (p.Asp4057Ala)
c.12092A>C (p.Asp4031Ala)
c.12077A>C (p.Asp4026Ala)
c.5291A>C (p.Asp1764Ala)
c.5270A>C (p.Asp1757Ala)
n.12168A>C
5g.90763336A>GCA360377314ADGRV1c.12152A>G (p.Asp4051Gly)
c.1106A>G (p.Asp369Gly)
c.265+87127A>G (n.265+87127A>G)
n.2571A>G
n.729A>G
n.12165A>G
c.12149A>G (p.Asp4050Gly)
c.12071A>G (p.Asp4024Gly)
c.9455A>G (p.Asp3152Gly)
c.12173A>G (p.Asp4058Gly)
c.12170A>G (p.Asp4057Gly)
c.12092A>G (p.Asp4031Gly)
c.12077A>G (p.Asp4026Gly)
c.5291A>G (p.Asp1764Gly)
c.5270A>G (p.Asp1757Gly)
n.12168A>G
5g.90763336A>TCA360377313ADGRV1c.12152A>T (p.Asp4051Val)
c.1106A>T (p.Asp369Val)
c.265+87127A>T (n.265+87127A>T)
n.2571A>T
n.729A>T
n.12165A>T
c.12149A>T (p.Asp4050Val)
c.12071A>T (p.Asp4024Val)
c.9455A>T (p.Asp3152Val)
c.12173A>T (p.Asp4058Val)
c.12170A>T (p.Asp4057Val)
c.12092A>T (p.Asp4031Val)
c.12077A>T (p.Asp4026Val)
c.5291A>T (p.Asp1764Val)
c.5270A>T (p.Asp1757Val)
n.12168A>T
5g.90763337C>ACA360377317ADGRV1c.12153C>A (p.Asp4051Glu)
c.1107C>A (p.Asp369Glu)
c.265+87128C>A (n.265+87128C>A)
n.2572C>A
n.730C>A
n.12166C>A
c.12150C>A (p.Asp4050Glu)
c.12072C>A (p.Asp4024Glu)
c.9456C>A (p.Asp3152Glu)
c.12174C>A (p.Asp4058Glu)
c.12171C>A (p.Asp4057Glu)
c.12093C>A (p.Asp4031Glu)
c.12078C>A (p.Asp4026Glu)
c.5292C>A (p.Asp1764Glu)
c.5271C>A (p.Asp1757Glu)
n.12169C>A
 gnomAD v4
5g.90763337C=CA1562889872ADGRV1c.12153C= (p.Asp4051=)
c.1107C= (p.Asp369=)
c.265+87128C= (n.265+87128C=)
n.2572C=
n.730C=
n.12166C=
c.12150C= (p.Asp4050=)
c.12072C= (p.Asp4024=)
c.9456C= (p.Asp3152=)
c.12174C= (p.Asp4058=)
c.12171C= (p.Asp4057=)
c.12093C= (p.Asp4031=)
c.12078C= (p.Asp4026=)
c.5292C= (p.Asp1764=)
c.5271C= (p.Asp1757=)
n.12169C=
5g.90763337C>GCA360377321ADGRV1c.12153C>G (p.Asp4051Glu)
c.1107C>G (p.Asp369Glu)
c.265+87128C>G (n.265+87128C>G)
n.2572C>G
n.730C>G
n.12166C>G
c.12150C>G (p.Asp4050Glu)
c.12072C>G (p.Asp4024Glu)
c.9456C>G (p.Asp3152Glu)
c.12174C>G (p.Asp4058Glu)
c.12171C>G (p.Asp4057Glu)
c.12093C>G (p.Asp4031Glu)
c.12078C>G (p.Asp4026Glu)
c.5292C>G (p.Asp1764Glu)
c.5271C>G (p.Asp1757Glu)
n.12169C>G
 dbSNP gnomAD v2 gnomAD v4
5g.90763337C>TCA445406408ADGRV1c.12153C>T (p.Asp4051=)
c.1107C>T (p.Asp369=)
c.265+87128C>T (n.265+87128C>T)
n.2572C>T
n.730C>T
n.12166C>T
c.12150C>T (p.Asp4050=)
c.12072C>T (p.Asp4024=)
c.9456C>T (p.Asp3152=)
c.12174C>T (p.Asp4058=)
c.12171C>T (p.Asp4057=)
c.12093C>T (p.Asp4031=)
c.12078C>T (p.Asp4026=)
c.5292C>T (p.Asp1764=)
c.5271C>T (p.Asp1757=)
n.12169C>T
 gnomAD v4
5g.90763338C>ACA360377332ADGRV1c.12154C>A (p.Pro4052Thr)
c.1108C>A (p.Pro370Thr)
c.265+87129C>A (n.265+87129C>A)
n.2573C>A
n.731C>A
n.12167C>A
c.12151C>A (p.Pro4051Thr)
c.12073C>A (p.Pro4025Thr)
c.9457C>A (p.Pro3153Thr)
c.12175C>A (p.Pro4059Thr)
c.12172C>A (p.Pro4058Thr)
c.12094C>A (p.Pro4032Thr)
c.12079C>A (p.Pro4027Thr)
c.5293C>A (p.Pro1765Thr)
c.5272C>A (p.Pro1758Thr)
n.12170C>A
5g.90763338C=CA1562889873ADGRV1c.12154C= (p.Pro4052=)
c.1108C= (p.Pro370=)
c.265+87129C= (n.265+87129C=)
n.2573C=
n.731C=
n.12167C=
c.12151C= (p.Pro4051=)
c.12073C= (p.Pro4025=)
c.9457C= (p.Pro3153=)
c.12175C= (p.Pro4059=)
c.12172C= (p.Pro4058=)
c.12094C= (p.Pro4032=)
c.12079C= (p.Pro4027=)
c.5293C= (p.Pro1765=)
c.5272C= (p.Pro1758=)
n.12170C=
5g.90763338C>GCA360377334ADGRV1c.12154C>G (p.Pro4052Ala)
c.1108C>G (p.Pro370Ala)
c.265+87129C>G (n.265+87129C>G)
n.2573C>G
n.731C>G
n.12167C>G
c.12151C>G (p.Pro4051Ala)
c.12073C>G (p.Pro4025Ala)
c.9457C>G (p.Pro3153Ala)
c.12175C>G (p.Pro4059Ala)
c.12172C>G (p.Pro4058Ala)
c.12094C>G (p.Pro4032Ala)
c.12079C>G (p.Pro4027Ala)
c.5293C>G (p.Pro1765Ala)
c.5272C>G (p.Pro1758Ala)
n.12170C>G
 dbSNP
5g.90763338C>TCA360377336ADGRV1c.12154C>T (p.Pro4052Ser)
c.1108C>T (p.Pro370Ser)
c.265+87129C>T (n.265+87129C>T)
n.2573C>T
n.731C>T
n.12167C>T
c.12151C>T (p.Pro4051Ser)
c.12073C>T (p.Pro4025Ser)
c.9457C>T (p.Pro3153Ser)
c.12175C>T (p.Pro4059Ser)
c.12172C>T (p.Pro4058Ser)
c.12094C>T (p.Pro4032Ser)
c.12079C>T (p.Pro4027Ser)
c.5293C>T (p.Pro1765Ser)
c.5272C>T (p.Pro1758Ser)
n.12170C>T
 gnomAD v4
5g.90763339C>ACA122800379ADGRV1c.12155C>A (p.Pro4052His)
c.1109C>A (p.Pro370His)
c.265+87130C>A (n.265+87130C>A)
n.2574C>A
n.732C>A
n.12168C>A
c.12152C>A (p.Pro4051His)
c.12074C>A (p.Pro4025His)
c.9458C>A (p.Pro3153His)
c.12176C>A (p.Pro4059His)
c.12173C>A (p.Pro4058His)
c.12095C>A (p.Pro4032His)
c.12080C>A (p.Pro4027His)
c.5294C>A (p.Pro1765His)
c.5273C>A (p.Pro1758His)
n.12171C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90763339C=CA1562889874ADGRV1c.12155C= (p.Pro4052=)
c.1109C= (p.Pro370=)
c.265+87130C= (n.265+87130C=)
n.2574C=
n.732C=
n.12168C=
c.12152C= (p.Pro4051=)
c.12074C= (p.Pro4025=)
c.9458C= (p.Pro3153=)
c.12176C= (p.Pro4059=)
c.12173C= (p.Pro4058=)
c.12095C= (p.Pro4032=)
c.12080C= (p.Pro4027=)
c.5294C= (p.Pro1765=)
c.5273C= (p.Pro1758=)
n.12171C=
5g.90763339C>GCA360377346ADGRV1c.12155C>G (p.Pro4052Arg)
c.1109C>G (p.Pro370Arg)
c.265+87130C>G (n.265+87130C>G)
n.2574C>G
n.732C>G
n.12168C>G
c.12152C>G (p.Pro4051Arg)
c.12074C>G (p.Pro4025Arg)
c.9458C>G (p.Pro3153Arg)
c.12176C>G (p.Pro4059Arg)
c.12173C>G (p.Pro4058Arg)
c.12095C>G (p.Pro4032Arg)
c.12080C>G (p.Pro4027Arg)
c.5294C>G (p.Pro1765Arg)
c.5273C>G (p.Pro1758Arg)
n.12171C>G
 dbSNP gnomAD v4
5g.90763339C>TCA3341163ADGRV1c.12155C>T (p.Pro4052Leu)
c.1109C>T (p.Pro370Leu)
c.265+87130C>T (n.265+87130C>T)
n.2574C>T
n.732C>T
n.12168C>T
c.12152C>T (p.Pro4051Leu)
c.12074C>T (p.Pro4025Leu)
c.9458C>T (p.Pro3153Leu)
c.12176C>T (p.Pro4059Leu)
c.12173C>T (p.Pro4058Leu)
c.12095C>T (p.Pro4032Leu)
c.12080C>T (p.Pro4027Leu)
c.5294C>T (p.Pro1765Leu)
c.5273C>T (p.Pro1758Leu)
n.12171C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.90763340T>ACA445406411ADGRV1c.12156T>A (p.Pro4052=)
c.1110T>A (p.Pro370=)
c.265+87131T>A (n.265+87131T>A)
n.2575T>A
n.733T>A
n.12169T>A
c.12153T>A (p.Pro4051=)
c.12075T>A (p.Pro4025=)
c.9459T>A (p.Pro3153=)
c.12177T>A (p.Pro4059=)
c.12174T>A (p.Pro4058=)
c.12096T>A (p.Pro4032=)
c.12081T>A (p.Pro4027=)
c.5295T>A (p.Pro1765=)
c.5274T>A (p.Pro1758=)
n.12172T>A
5g.90763340T>CCA445406412ADGRV1c.12156T>C (p.Pro4052=)
c.1110T>C (p.Pro370=)
c.265+87131T>C (n.265+87131T>C)
n.2575T>C
n.733T>C
n.12169T>C
c.12153T>C (p.Pro4051=)
c.12075T>C (p.Pro4025=)
c.9459T>C (p.Pro3153=)
c.12177T>C (p.Pro4059=)
c.12174T>C (p.Pro4058=)
c.12096T>C (p.Pro4032=)
c.12081T>C (p.Pro4027=)
c.5295T>C (p.Pro1765=)
c.5274T>C (p.Pro1758=)
n.12172T>C
 gnomAD v4
5g.90763340T>GCA445406414ADGRV1c.12156T>G (p.Pro4052=)
c.1110T>G (p.Pro370=)
c.265+87131T>G (n.265+87131T>G)
n.2575T>G
n.733T>G
n.12169T>G
c.12153T>G (p.Pro4051=)
c.12075T>G (p.Pro4025=)
c.9459T>G (p.Pro3153=)
c.12177T>G (p.Pro4059=)
c.12174T>G (p.Pro4058=)
c.12096T>G (p.Pro4032=)
c.12081T>G (p.Pro4027=)
c.5295T>G (p.Pro1765=)
c.5274T>G (p.Pro1758=)
n.12172T>G
5g.90763341G>ACA360377354ADGRV1c.12157G>A (p.Asp4053Asn)
c.1111G>A (p.Asp371Asn)
c.265+87132G>A (n.265+87132G>A)
n.2576G>A
n.734G>A
n.12170G>A
c.12154G>A (p.Asp4052Asn)
c.12076G>A (p.Asp4026Asn)
c.9460G>A (p.Asp3154Asn)
c.12178G>A (p.Asp4060Asn)
c.12175G>A (p.Asp4059Asn)
c.12097G>A (p.Asp4033Asn)
c.12082G>A (p.Asp4028Asn)
c.5296G>A (p.Asp1766Asn)
c.5275G>A (p.Asp1759Asn)
n.12173G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90763341G>CCA360377357ADGRV1c.12157G>C (p.Asp4053His)
c.1111G>C (p.Asp371His)
c.265+87132G>C (n.265+87132G>C)
n.2576G>C
n.734G>C
n.12170G>C
c.12154G>C (p.Asp4052His)
c.12076G>C (p.Asp4026His)
c.9460G>C (p.Asp3154His)
c.12178G>C (p.Asp4060His)
c.12175G>C (p.Asp4059His)
c.12097G>C (p.Asp4033His)
c.12082G>C (p.Asp4028His)
c.5296G>C (p.Asp1766His)
c.5275G>C (p.Asp1759His)
n.12173G>C
5g.90763341G=CA1562889875ADGRV1c.12157G= (p.Asp4053=)
c.1111G= (p.Asp371=)
c.265+87132G= (n.265+87132G=)
n.2576G=
n.734G=
n.12170G=
c.12154G= (p.Asp4052=)
c.12076G= (p.Asp4026=)
c.9460G= (p.Asp3154=)
c.12178G= (p.Asp4060=)
c.12175G= (p.Asp4059=)
c.12097G= (p.Asp4033=)
c.12082G= (p.Asp4028=)
c.5296G= (p.Asp1766=)
c.5275G= (p.Asp1759=)
n.12173G=
5g.90763341G>TCA360377366ADGRV1c.12157G>T (p.Asp4053Tyr)
c.1111G>T (p.Asp371Tyr)
c.265+87132G>T (n.265+87132G>T)
n.2576G>T
n.734G>T
n.12170G>T
c.12154G>T (p.Asp4052Tyr)
c.12076G>T (p.Asp4026Tyr)
c.9460G>T (p.Asp3154Tyr)
c.12178G>T (p.Asp4060Tyr)
c.12175G>T (p.Asp4059Tyr)
c.12097G>T (p.Asp4033Tyr)
c.12082G>T (p.Asp4028Tyr)
c.5296G>T (p.Asp1766Tyr)
c.5275G>T (p.Asp1759Tyr)
n.12173G>T
5g.90763342A>CCA360377382ADGRV1c.12158A>C (p.Asp4053Ala)
c.1112A>C (p.Asp371Ala)
c.265+87133A>C (n.265+87133A>C)
n.2577A>C
n.735A>C
n.12171A>C
c.12155A>C (p.Asp4052Ala)
c.12077A>C (p.Asp4026Ala)
c.9461A>C (p.Asp3154Ala)
c.12179A>C (p.Asp4060Ala)
c.12176A>C (p.Asp4059Ala)
c.12098A>C (p.Asp4033Ala)
c.12083A>C (p.Asp4028Ala)
c.5297A>C (p.Asp1766Ala)
c.5276A>C (p.Asp1759Ala)
n.12174A>C
5g.90763342A>GCA360377386ADGRV1c.12158A>G (p.Asp4053Gly)
c.1112A>G (p.Asp371Gly)
c.265+87133A>G (n.265+87133A>G)
n.2577A>G
n.735A>G
n.12171A>G
c.12155A>G (p.Asp4052Gly)
c.12077A>G (p.Asp4026Gly)
c.9461A>G (p.Asp3154Gly)
c.12179A>G (p.Asp4060Gly)
c.12176A>G (p.Asp4059Gly)
c.12098A>G (p.Asp4033Gly)
c.12083A>G (p.Asp4028Gly)
c.5297A>G (p.Asp1766Gly)
c.5276A>G (p.Asp1759Gly)
n.12174A>G
5g.90763342A>TCA360377376ADGRV1c.12158A>T (p.Asp4053Val)
c.1112A>T (p.Asp371Val)
c.265+87133A>T (n.265+87133A>T)
n.2577A>T
n.735A>T
n.12171A>T
c.12155A>T (p.Asp4052Val)
c.12077A>T (p.Asp4026Val)
c.9461A>T (p.Asp3154Val)
c.12179A>T (p.Asp4060Val)
c.12176A>T (p.Asp4059Val)
c.12098A>T (p.Asp4033Val)
c.12083A>T (p.Asp4028Val)
c.5297A>T (p.Asp1766Val)
c.5276A>T (p.Asp1759Val)
n.12174A>T
5g.90763343T>ACA360377388ADGRV1c.12159T>A (p.Asp4053Glu)
c.1113T>A (p.Asp371Glu)
c.265+87134T>A (n.265+87134T>A)
n.2578T>A
n.736T>A
n.12172T>A
c.12156T>A (p.Asp4052Glu)
c.12078T>A (p.Asp4026Glu)
c.9462T>A (p.Asp3154Glu)
c.12180T>A (p.Asp4060Glu)
c.12177T>A (p.Asp4059Glu)
c.12099T>A (p.Asp4033Glu)
c.12084T>A (p.Asp4028Glu)
c.5298T>A (p.Asp1766Glu)
c.5277T>A (p.Asp1759Glu)
n.12175T>A
5g.90763343T>CCA445406417ADGRV1c.12159T>C (p.Asp4053=)
c.1113T>C (p.Asp371=)
c.265+87134T>C (n.265+87134T>C)
n.2578T>C
n.736T>C
n.12172T>C
c.12156T>C (p.Asp4052=)
c.12078T>C (p.Asp4026=)
c.9462T>C (p.Asp3154=)
c.12180T>C (p.Asp4060=)
c.12177T>C (p.Asp4059=)
c.12099T>C (p.Asp4033=)
c.12084T>C (p.Asp4028=)
c.5298T>C (p.Asp1766=)
c.5277T>C (p.Asp1759=)
n.12175T>C
5g.90763343T>GCA360377393ADGRV1c.12159T>G (p.Asp4053Glu)
c.1113T>G (p.Asp371Glu)
c.265+87134T>G (n.265+87134T>G)
n.2578T>G
n.736T>G
n.12172T>G
c.12156T>G (p.Asp4052Glu)
c.12078T>G (p.Asp4026Glu)
c.9462T>G (p.Asp3154Glu)
c.12180T>G (p.Asp4060Glu)
c.12177T>G (p.Asp4059Glu)
c.12099T>G (p.Asp4033Glu)
c.12084T>G (p.Asp4028Glu)
c.5298T>G (p.Asp1766Glu)
c.5277T>G (p.Asp1759Glu)
n.12175T>G
5g.90763344T>ACA360377407ADGRV1c.12160T>A (p.Ser4054Thr)
c.1114T>A (p.Ser372Thr)
c.265+87135T>A (n.265+87135T>A)
n.2579T>A
n.737T>A
n.12173T>A
c.12157T>A (p.Ser4053Thr)
c.12079T>A (p.Ser4027Thr)
c.9463T>A (p.Ser3155Thr)
c.12181T>A (p.Ser4061Thr)
c.12178T>A (p.Ser4060Thr)
c.12100T>A (p.Ser4034Thr)
c.12085T>A (p.Ser4029Thr)
c.5299T>A (p.Ser1767Thr)
c.5278T>A (p.Ser1760Thr)
n.12176T>A
5g.90763344T>CCA360377420ADGRV1c.12160T>C (p.Ser4054Pro)
c.1114T>C (p.Ser372Pro)
c.265+87135T>C (n.265+87135T>C)
n.2579T>C
n.737T>C
n.12173T>C
c.12157T>C (p.Ser4053Pro)
c.12079T>C (p.Ser4027Pro)
c.9463T>C (p.Ser3155Pro)
c.12181T>C (p.Ser4061Pro)
c.12178T>C (p.Ser4060Pro)
c.12100T>C (p.Ser4034Pro)
c.12085T>C (p.Ser4029Pro)
c.5299T>C (p.Ser1767Pro)
c.5278T>C (p.Ser1760Pro)
n.12176T>C
5g.90763344T>GCA360377424ADGRV1c.12160T>G (p.Ser4054Ala)
c.1114T>G (p.Ser372Ala)
c.265+87135T>G (n.265+87135T>G)
n.2579T>G
n.737T>G
n.12173T>G
c.12157T>G (p.Ser4053Ala)
c.12079T>G (p.Ser4027Ala)
c.9463T>G (p.Ser3155Ala)
c.12181T>G (p.Ser4061Ala)
c.12178T>G (p.Ser4060Ala)
c.12100T>G (p.Ser4034Ala)
c.12085T>G (p.Ser4029Ala)
c.5299T>G (p.Ser1767Ala)
c.5278T>G (p.Ser1760Ala)
n.12176T>G
5g.90763345C>ACA360377430ADGRV1c.12161C>A (p.Ser4054Ter)
c.1115C>A (p.Ser372Ter)
c.265+87136C>A (n.265+87136C>A)
n.2580C>A
n.738C>A
n.12174C>A
c.12158C>A (p.Ser4053Ter)
c.12080C>A (p.Ser4027Ter)
c.9464C>A (p.Ser3155Ter)
c.12182C>A (p.Ser4061Ter)
c.12179C>A (p.Ser4060Ter)
c.12101C>A (p.Ser4034Ter)
c.12086C>A (p.Ser4029Ter)
c.5300C>A (p.Ser1767Ter)
c.5279C>A (p.Ser1760Ter)
n.12177C>A
5g.90763345C=CA1562889876ADGRV1c.12161C= (p.Ser4054=)
c.1115C= (p.Ser372=)
c.265+87136C= (n.265+87136C=)
n.2580C=
n.738C=
n.12174C=
c.12158C= (p.Ser4053=)
c.12080C= (p.Ser4027=)
c.9464C= (p.Ser3155=)
c.12182C= (p.Ser4061=)
c.12179C= (p.Ser4060=)
c.12101C= (p.Ser4034=)
c.12086C= (p.Ser4029=)
c.5300C= (p.Ser1767=)
c.5279C= (p.Ser1760=)
n.12177C=
5g.90763345C>GCA360377432ADGRV1c.12161C>G (p.Ser4054Ter)
c.1115C>G (p.Ser372Ter)
c.265+87136C>G (n.265+87136C>G)
n.2580C>G
n.738C>G
n.12174C>G
c.12158C>G (p.Ser4053Ter)
c.12080C>G (p.Ser4027Ter)
c.9464C>G (p.Ser3155Ter)
c.12182C>G (p.Ser4061Ter)
c.12179C>G (p.Ser4060Ter)
c.12101C>G (p.Ser4034Ter)
c.12086C>G (p.Ser4029Ter)
c.5300C>G (p.Ser1767Ter)
c.5279C>G (p.Ser1760Ter)
n.12177C>G
5g.90763345C>TCA360377437ADGRV1c.12161C>T (p.Ser4054Leu)
c.1115C>T (p.Ser372Leu)
c.265+87136C>T (n.265+87136C>T)
n.2580C>T
n.738C>T
n.12174C>T
c.12158C>T (p.Ser4053Leu)
c.12080C>T (p.Ser4027Leu)
c.9464C>T (p.Ser3155Leu)
c.12182C>T (p.Ser4061Leu)
c.12179C>T (p.Ser4060Leu)
c.12101C>T (p.Ser4034Leu)
c.12086C>T (p.Ser4029Leu)
c.5300C>T (p.Ser1767Leu)
c.5279C>T (p.Ser1760Leu)
n.12177C>T
 dbSNP gnomAD v4
5g.90763346delCA2674574446ADGRV1c.12162del (p.Tyr4055MetfsTer2)
c.1116del (p.Tyr373MetfsTer2)
c.265+87137del (n.265+87137del)
n.2581del
n.739del
n.12175del
c.12159del (p.Tyr4054MetfsTer2)
c.12081del (p.Tyr4028MetfsTer2)
c.9465del (p.Tyr3156MetfsTer2)
c.12183del (p.Tyr4062MetfsTer2)
c.12180del (p.Tyr4061MetfsTer2)
c.12102del (p.Tyr4035MetfsTer2)
c.12087del (p.Tyr4030MetfsTer2)
c.5301del (p.Tyr1768MetfsTer2)
c.5280del (p.Tyr1761MetfsTer2)
n.12178del
 gnomAD v4
5g.90763346A=CA1562889877ADGRV1c.12162A= (p.Ser4054=)
c.1116A= (p.Ser372=)
c.265+87137A= (n.265+87137A=)
n.2581A=
n.739A=
n.12175A=
c.12159A= (p.Ser4053=)
c.12081A= (p.Ser4027=)
c.9465A= (p.Ser3155=)
c.12183A= (p.Ser4061=)
c.12180A= (p.Ser4060=)
c.12102A= (p.Ser4034=)
c.12087A= (p.Ser4029=)
c.5301A= (p.Ser1767=)
c.5280A= (p.Ser1760=)
n.12178A=
5g.90763346A>CCA445406425ADGRV1c.12162A>C (p.Ser4054=)
c.1116A>C (p.Ser372=)
c.265+87137A>C (n.265+87137A>C)
n.2581A>C
n.739A>C
n.12175A>C
c.12159A>C (p.Ser4053=)
c.12081A>C (p.Ser4027=)
c.9465A>C (p.Ser3155=)
c.12183A>C (p.Ser4061=)
c.12180A>C (p.Ser4060=)
c.12102A>C (p.Ser4034=)
c.12087A>C (p.Ser4029=)
c.5301A>C (p.Ser1767=)
c.5280A>C (p.Ser1760=)
n.12178A>C
 gnomAD v4
5g.90763346A>GCA445406424ADGRV1c.12162A>G (p.Ser4054=)
c.1116A>G (p.Ser372=)
c.265+87137A>G (n.265+87137A>G)
n.2581A>G
n.739A>G
n.12175A>G
c.12159A>G (p.Ser4053=)
c.12081A>G (p.Ser4027=)
c.9465A>G (p.Ser3155=)
c.12183A>G (p.Ser4061=)
c.12180A>G (p.Ser4060=)
c.12102A>G (p.Ser4034=)
c.12087A>G (p.Ser4029=)
c.5301A>G (p.Ser1767=)
c.5280A>G (p.Ser1760=)
n.12178A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90763346A>TCA445406423ADGRV1c.12162A>T (p.Ser4054=)
c.1116A>T (p.Ser372=)
c.265+87137A>T (n.265+87137A>T)
n.2581A>T
n.739A>T
n.12175A>T
c.12159A>T (p.Ser4053=)
c.12081A>T (p.Ser4027=)
c.9465A>T (p.Ser3155=)
c.12183A>T (p.Ser4061=)
c.12180A>T (p.Ser4060=)
c.12102A>T (p.Ser4034=)
c.12087A>T (p.Ser4029=)
c.5301A>T (p.Ser1767=)
c.5280A>T (p.Ser1760=)
n.12178A>T
5g.90763347T>ACA360377444ADGRV1c.12163T>A (p.Tyr4055Asn)
c.1117T>A (p.Tyr373Asn)
c.265+87138T>A (n.265+87138T>A)
n.2582T>A
n.740T>A
n.12176T>A
c.12160T>A (p.Tyr4054Asn)
c.12082T>A (p.Tyr4028Asn)
c.9466T>A (p.Tyr3156Asn)
c.12184T>A (p.Tyr4062Asn)
c.12181T>A (p.Tyr4061Asn)
c.12103T>A (p.Tyr4035Asn)
c.12088T>A (p.Tyr4030Asn)
c.5302T>A (p.Tyr1768Asn)
c.5281T>A (p.Tyr1761Asn)
n.12179T>A
 gnomAD v4
5g.90763347T>CCA360377447ADGRV1c.12163T>C (p.Tyr4055His)
c.1117T>C (p.Tyr373His)
c.265+87138T>C (n.265+87138T>C)
n.2582T>C
n.740T>C
n.12176T>C
c.12160T>C (p.Tyr4054His)
c.12082T>C (p.Tyr4028His)
c.9466T>C (p.Tyr3156His)
c.12184T>C (p.Tyr4062His)
c.12181T>C (p.Tyr4061His)
c.12103T>C (p.Tyr4035His)
c.12088T>C (p.Tyr4030His)
c.5302T>C (p.Tyr1768His)
c.5281T>C (p.Tyr1761His)
n.12179T>C
 dbSNP gnomAD v4
5g.90763347T>GCA360377451ADGRV1c.12163T>G (p.Tyr4055Asp)
c.1117T>G (p.Tyr373Asp)
c.265+87138T>G (n.265+87138T>G)
n.2582T>G
n.740T>G
n.12176T>G
c.12160T>G (p.Tyr4054Asp)
c.12082T>G (p.Tyr4028Asp)
c.9466T>G (p.Tyr3156Asp)
c.12184T>G (p.Tyr4062Asp)
c.12181T>G (p.Tyr4061Asp)
c.12103T>G (p.Tyr4035Asp)
c.12088T>G (p.Tyr4030Asp)
c.5302T>G (p.Tyr1768Asp)
c.5281T>G (p.Tyr1761Asp)
n.12179T>G
5g.90763347T=CA1562889878ADGRV1c.12163T= (p.Tyr4055=)
c.1117T= (p.Tyr373=)
c.265+87138T= (n.265+87138T=)
n.2582T=
n.740T=
n.12176T=
c.12160T= (p.Tyr4054=)
c.12082T= (p.Tyr4028=)
c.9466T= (p.Tyr3156=)
c.12184T= (p.Tyr4062=)
c.12181T= (p.Tyr4061=)
c.12103T= (p.Tyr4035=)
c.12088T= (p.Tyr4030=)
c.5302T= (p.Tyr1768=)
c.5281T= (p.Tyr1761=)
n.12179T=
5g.90763348A>CCA360377457ADGRV1c.12164A>C (p.Tyr4055Ser)
c.1118A>C (p.Tyr373Ser)
c.265+87139A>C (n.265+87139A>C)
n.2583A>C
n.741A>C
n.12177A>C
c.12161A>C (p.Tyr4054Ser)
c.12083A>C (p.Tyr4028Ser)
c.9467A>C (p.Tyr3156Ser)
c.12185A>C (p.Tyr4062Ser)
c.12182A>C (p.Tyr4061Ser)
c.12104A>C (p.Tyr4035Ser)
c.12089A>C (p.Tyr4030Ser)
c.5303A>C (p.Tyr1768Ser)
c.5282A>C (p.Tyr1761Ser)
n.12180A>C
5g.90763348A>GCA360377458ADGRV1c.12164A>G (p.Tyr4055Cys)
c.1118A>G (p.Tyr373Cys)
c.265+87139A>G (n.265+87139A>G)
n.2583A>G
n.741A>G
n.12177A>G
c.12161A>G (p.Tyr4054Cys)
c.12083A>G (p.Tyr4028Cys)
c.9467A>G (p.Tyr3156Cys)
c.12185A>G (p.Tyr4062Cys)
c.12182A>G (p.Tyr4061Cys)
c.12104A>G (p.Tyr4035Cys)
c.12089A>G (p.Tyr4030Cys)
c.5303A>G (p.Tyr1768Cys)
c.5282A>G (p.Tyr1761Cys)
n.12180A>G
5g.90763348A>TCA360377459ADGRV1c.12164A>T (p.Tyr4055Phe)
c.1118A>T (p.Tyr373Phe)
c.265+87139A>T (n.265+87139A>T)
n.2583A>T
n.741A>T
n.12177A>T
c.12161A>T (p.Tyr4054Phe)
c.12083A>T (p.Tyr4028Phe)
c.9467A>T (p.Tyr3156Phe)
c.12185A>T (p.Tyr4062Phe)
c.12182A>T (p.Tyr4061Phe)
c.12104A>T (p.Tyr4035Phe)
c.12089A>T (p.Tyr4030Phe)
c.5303A>T (p.Tyr1768Phe)
c.5282A>T (p.Tyr1761Phe)
n.12180A>T
5g.90763348dupCA122800380ADGRV1c.12164dup (p.Tyr4055Ter)
c.1118dup (p.Tyr373Ter)
c.265+87139dup (n.265+87139dup)
n.2583dup
n.741dup
n.12177dup
c.12161dup (p.Tyr4054Ter)
c.12083dup (p.Tyr4028Ter)
c.9467dup (p.Tyr3156Ter)
c.12185dup (p.Tyr4062Ter)
c.12182dup (p.Tyr4061Ter)
c.12104dup (p.Tyr4035Ter)
c.12089dup (p.Tyr4030Ter)
c.5303dup (p.Tyr1768Ter)
c.5282dup (p.Tyr1761Ter)
n.12180dup
 dbSNP
5g.90763349T>ACA360377483ADGRV1c.12165T>A (p.Tyr4055Ter)
c.1119T>A (p.Tyr373Ter)
c.265+87140T>A (n.265+87140T>A)
n.2584T>A
n.742T>A
n.12178T>A
c.12162T>A (p.Tyr4054Ter)
c.12084T>A (p.Tyr4028Ter)
c.9468T>A (p.Tyr3156Ter)
c.12186T>A (p.Tyr4062Ter)
c.12183T>A (p.Tyr4061Ter)
c.12105T>A (p.Tyr4035Ter)
c.12090T>A (p.Tyr4030Ter)
c.5304T>A (p.Tyr1768Ter)
c.5283T>A (p.Tyr1761Ter)
n.12181T>A
5g.90763349T>CCA445406435ADGRV1c.12165T>C (p.Tyr4055=)
c.1119T>C (p.Tyr373=)
c.265+87140T>C (n.265+87140T>C)
n.2584T>C
n.742T>C
n.12178T>C
c.12162T>C (p.Tyr4054=)
c.12084T>C (p.Tyr4028=)
c.9468T>C (p.Tyr3156=)
c.12186T>C (p.Tyr4062=)
c.12183T>C (p.Tyr4061=)
c.12105T>C (p.Tyr4035=)
c.12090T>C (p.Tyr4030=)
c.5304T>C (p.Tyr1768=)
c.5283T>C (p.Tyr1761=)
n.12181T>C
 gnomAD v4
5g.90763349T>GCA360377463ADGRV1c.12165T>G (p.Tyr4055Ter)
c.1119T>G (p.Tyr373Ter)
c.265+87140T>G (n.265+87140T>G)
n.2584T>G
n.742T>G
n.12178T>G
c.12162T>G (p.Tyr4054Ter)
c.12084T>G (p.Tyr4028Ter)
c.9468T>G (p.Tyr3156Ter)
c.12186T>G (p.Tyr4062Ter)
c.12183T>G (p.Tyr4061Ter)
c.12105T>G (p.Tyr4035Ter)
c.12090T>G (p.Tyr4030Ter)
c.5304T>G (p.Tyr1768Ter)
c.5283T>G (p.Tyr1761Ter)
n.12181T>G
5g.90763350G>ACA360377487ADGRV1c.12166G>A (p.Val4056Met)
c.1120G>A (p.Val374Met)
c.265+87141G>A (n.265+87141G>A)
n.2585G>A
n.743G>A
n.12179G>A
c.12163G>A (p.Val4055Met)
c.12085G>A (p.Val4029Met)
c.9469G>A (p.Val3157Met)
c.12187G>A (p.Val4063Met)
c.12184G>A (p.Val4062Met)
c.12106G>A (p.Val4036Met)
c.12091G>A (p.Val4031Met)
c.5305G>A (p.Val1769Met)
c.5284G>A (p.Val1762Met)
n.12182G>A
 dbSNP
5g.90763350G>CCA360377489ADGRV1c.12166G>C (p.Val4056Leu)
c.1120G>C (p.Val374Leu)
c.265+87141G>C (n.265+87141G>C)
n.2585G>C
n.743G>C
n.12179G>C
c.12163G>C (p.Val4055Leu)
c.12085G>C (p.Val4029Leu)
c.9469G>C (p.Val3157Leu)
c.12187G>C (p.Val4063Leu)
c.12184G>C (p.Val4062Leu)
c.12106G>C (p.Val4036Leu)
c.12091G>C (p.Val4031Leu)
c.5305G>C (p.Val1769Leu)
c.5284G>C (p.Val1762Leu)
n.12182G>C
5g.90763350G=CA1562889879ADGRV1c.12166G= (p.Val4056=)
c.1120G= (p.Val374=)
c.265+87141G= (n.265+87141G=)
n.2585G=
n.743G=
n.12179G=
c.12163G= (p.Val4055=)
c.12085G= (p.Val4029=)
c.9469G= (p.Val3157=)
c.12187G= (p.Val4063=)
c.12184G= (p.Val4062=)
c.12106G= (p.Val4036=)
c.12091G= (p.Val4031=)
c.5305G= (p.Val1769=)
c.5284G= (p.Val1762=)
n.12182G=
5g.90763350G>TCA360377490ADGRV1c.12166G>T (p.Val4056Leu)
c.1120G>T (p.Val374Leu)
c.265+87141G>T (n.265+87141G>T)
n.2585G>T
n.743G>T
n.12179G>T
c.12163G>T (p.Val4055Leu)
c.12085G>T (p.Val4029Leu)
c.9469G>T (p.Val3157Leu)
c.12187G>T (p.Val4063Leu)
c.12184G>T (p.Val4062Leu)
c.12106G>T (p.Val4036Leu)
c.12091G>T (p.Val4031Leu)
c.5305G>T (p.Val1769Leu)
c.5284G>T (p.Val1762Leu)
n.12182G>T
5g.90763351T>ACA360377493ADGRV1c.12167T>A (p.Val4056Glu)
c.1121T>A (p.Val374Glu)
c.265+87142T>A (n.265+87142T>A)
n.2586T>A
n.744T>A
n.12180T>A
c.12164T>A (p.Val4055Glu)
c.12086T>A (p.Val4029Glu)
c.9470T>A (p.Val3157Glu)
c.12188T>A (p.Val4063Glu)
c.12185T>A (p.Val4062Glu)
c.12107T>A (p.Val4036Glu)
c.12092T>A (p.Val4031Glu)
c.5306T>A (p.Val1769Glu)
c.5285T>A (p.Val1762Glu)
n.12183T>A
5g.90763351T>CCA360377506ADGRV1c.12167T>C (p.Val4056Ala)
c.1121T>C (p.Val374Ala)
c.265+87142T>C (n.265+87142T>C)
n.2586T>C
n.744T>C
n.12180T>C
c.12164T>C (p.Val4055Ala)
c.12086T>C (p.Val4029Ala)
c.9470T>C (p.Val3157Ala)
c.12188T>C (p.Val4063Ala)
c.12185T>C (p.Val4062Ala)
c.12107T>C (p.Val4036Ala)
c.12092T>C (p.Val4031Ala)
c.5306T>C (p.Val1769Ala)
c.5285T>C (p.Val1762Ala)
n.12183T>C
5g.90763351T>GCA360377507ADGRV1c.12167T>G (p.Val4056Gly)
c.1121T>G (p.Val374Gly)
c.265+87142T>G (n.265+87142T>G)
n.2586T>G
n.744T>G
n.12180T>G
c.12164T>G (p.Val4055Gly)
c.12086T>G (p.Val4029Gly)
c.9470T>G (p.Val3157Gly)
c.12188T>G (p.Val4063Gly)
c.12185T>G (p.Val4062Gly)
c.12107T>G (p.Val4036Gly)
c.12092T>G (p.Val4031Gly)
c.5306T>G (p.Val1769Gly)
c.5285T>G (p.Val1762Gly)
n.12183T>G
5g.90763352G>ACA445406439ADGRV1c.12168G>A (p.Val4056=)
c.1122G>A (p.Val374=)
c.265+87143G>A (n.265+87143G>A)
n.2587G>A
n.745G>A
n.12181G>A
c.12165G>A (p.Val4055=)
c.12087G>A (p.Val4029=)
c.9471G>A (p.Val3157=)
c.12189G>A (p.Val4063=)
c.12186G>A (p.Val4062=)
c.12108G>A (p.Val4036=)
c.12093G>A (p.Val4031=)
c.5307G>A (p.Val1769=)
c.5286G>A (p.Val1762=)
n.12184G>A
 ClinVar
5g.90763352G>CCA445406441ADGRV1c.12168G>C (p.Val4056=)
c.1122G>C (p.Val374=)
c.265+87143G>C (n.265+87143G>C)
n.2587G>C
n.745G>C
n.12181G>C
c.12165G>C (p.Val4055=)
c.12087G>C (p.Val4029=)
c.9471G>C (p.Val3157=)
c.12189G>C (p.Val4063=)
c.12186G>C (p.Val4062=)
c.12108G>C (p.Val4036=)
c.12093G>C (p.Val4031=)
c.5307G>C (p.Val1769=)
c.5286G>C (p.Val1762=)
n.12184G>C
5g.90763352G>TCA445406442ADGRV1c.12168G>T (p.Val4056=)
c.1122G>T (p.Val374=)
c.265+87143G>T (n.265+87143G>T)
n.2587G>T
n.745G>T
n.12181G>T
c.12165G>T (p.Val4055=)
c.12087G>T (p.Val4029=)
c.9471G>T (p.Val3157=)
c.12189G>T (p.Val4063=)
c.12186G>T (p.Val4062=)
c.12108G>T (p.Val4036=)
c.12093G>T (p.Val4031=)
c.5307G>T (p.Val1769=)
c.5286G>T (p.Val1762=)
n.12184G>T
5g.90763353A>CCA360377512ADGRV1c.12169A>C (p.Thr4057Pro)
c.1123A>C (p.Thr375Pro)
c.265+87144A>C (n.265+87144A>C)
n.2588A>C
n.746A>C
n.12182A>C
c.12166A>C (p.Thr4056Pro)
c.12088A>C (p.Thr4030Pro)
c.9472A>C (p.Thr3158Pro)
c.12190A>C (p.Thr4064Pro)
c.12187A>C (p.Thr4063Pro)
c.12109A>C (p.Thr4037Pro)
c.12094A>C (p.Thr4032Pro)
c.5308A>C (p.Thr1770Pro)
c.5287A>C (p.Thr1763Pro)
n.12185A>C
5g.90763353A>GCA360377509ADGRV1c.12169A>G (p.Thr4057Ala)
c.1123A>G (p.Thr375Ala)
c.265+87144A>G (n.265+87144A>G)
n.2588A>G
n.746A>G
n.12182A>G
c.12166A>G (p.Thr4056Ala)
c.12088A>G (p.Thr4030Ala)
c.9472A>G (p.Thr3158Ala)
c.12190A>G (p.Thr4064Ala)
c.12187A>G (p.Thr4063Ala)
c.12109A>G (p.Thr4037Ala)
c.12094A>G (p.Thr4032Ala)
c.5308A>G (p.Thr1770Ala)
c.5287A>G (p.Thr1763Ala)
n.12185A>G
 gnomAD v4
5g.90763353A>TCA360377510ADGRV1c.12169A>T (p.Thr4057Ser)
c.1123A>T (p.Thr375Ser)
c.265+87144A>T (n.265+87144A>T)
n.2588A>T
n.746A>T
n.12182A>T
c.12166A>T (p.Thr4056Ser)
c.12088A>T (p.Thr4030Ser)
c.9472A>T (p.Thr3158Ser)
c.12190A>T (p.Thr4064Ser)
c.12187A>T (p.Thr4063Ser)
c.12109A>T (p.Thr4037Ser)
c.12094A>T (p.Thr4032Ser)
c.5308A>T (p.Thr1770Ser)
c.5287A>T (p.Thr1763Ser)
n.12185A>T
5g.90763354C>ACA360377523ADGRV1c.12170C>A (p.Thr4057Lys)
c.1124C>A (p.Thr375Lys)
c.265+87145C>A (n.265+87145C>A)
n.2589C>A
n.747C>A
n.12183C>A
c.12167C>A (p.Thr4056Lys)
c.12089C>A (p.Thr4030Lys)
c.9473C>A (p.Thr3158Lys)
c.12191C>A (p.Thr4064Lys)
c.12188C>A (p.Thr4063Lys)
c.12110C>A (p.Thr4037Lys)
c.12095C>A (p.Thr4032Lys)
c.5309C>A (p.Thr1770Lys)
c.5288C>A (p.Thr1763Lys)
n.12186C>A
5g.90763354C=CA1562889880ADGRV1c.12170C= (p.Thr4057=)
c.1124C= (p.Thr375=)
c.265+87145C= (n.265+87145C=)
n.2589C=
n.747C=
n.12183C=
c.12167C= (p.Thr4056=)
c.12089C= (p.Thr4030=)
c.9473C= (p.Thr3158=)
c.12191C= (p.Thr4064=)
c.12188C= (p.Thr4063=)
c.12110C= (p.Thr4037=)
c.12095C= (p.Thr4032=)
c.5309C= (p.Thr1770=)
c.5288C= (p.Thr1763=)
n.12186C=
5g.90763354C>GCA360377525ADGRV1c.12170C>G (p.Thr4057Arg)
c.1124C>G (p.Thr375Arg)
c.265+87145C>G (n.265+87145C>G)
n.2589C>G
n.747C>G
n.12183C>G
c.12167C>G (p.Thr4056Arg)
c.12089C>G (p.Thr4030Arg)
c.9473C>G (p.Thr3158Arg)
c.12191C>G (p.Thr4064Arg)
c.12188C>G (p.Thr4063Arg)
c.12110C>G (p.Thr4037Arg)
c.12095C>G (p.Thr4032Arg)
c.5309C>G (p.Thr1770Arg)
c.5288C>G (p.Thr1763Arg)
n.12186C>G
5g.90763354C>TCA360377530ADGRV1c.12170C>T (p.Thr4057Ile)
c.1124C>T (p.Thr375Ile)
c.265+87145C>T (n.265+87145C>T)
n.2589C>T
n.747C>T
n.12183C>T
c.12167C>T (p.Thr4056Ile)
c.12089C>T (p.Thr4030Ile)
c.9473C>T (p.Thr3158Ile)
c.12191C>T (p.Thr4064Ile)
c.12188C>T (p.Thr4063Ile)
c.12110C>T (p.Thr4037Ile)
c.12095C>T (p.Thr4032Ile)
c.5309C>T (p.Thr1770Ile)
c.5288C>T (p.Thr1763Ile)
n.12186C>T
 ClinVar dbSNP gnomAD v4
5g.90763355A=CA1562889881ADGRV1c.12171A= (p.Thr4057=)
c.1125A= (p.Thr375=)
c.265+87146A= (n.265+87146A=)
n.2590A=
n.748A=
n.12184A=
c.12168A= (p.Thr4056=)
c.12090A= (p.Thr4030=)
c.9474A= (p.Thr3158=)
c.12192A= (p.Thr4064=)
c.12189A= (p.Thr4063=)
c.12111A= (p.Thr4037=)
c.12096A= (p.Thr4032=)
c.5310A= (p.Thr1770=)
c.5289A= (p.Thr1763=)
n.12187A=
5g.90763355A>CCA445406448ADGRV1c.12171A>C (p.Thr4057=)
c.1125A>C (p.Thr375=)
c.265+87146A>C (n.265+87146A>C)
n.2590A>C
n.748A>C
n.12184A>C
c.12168A>C (p.Thr4056=)
c.12090A>C (p.Thr4030=)
c.9474A>C (p.Thr3158=)
c.12192A>C (p.Thr4064=)
c.12189A>C (p.Thr4063=)
c.12111A>C (p.Thr4037=)
c.12096A>C (p.Thr4032=)
c.5310A>C (p.Thr1770=)
c.5289A>C (p.Thr1763=)
n.12187A>C
 gnomAD v4
5g.90763355A>GCA445406449ADGRV1c.12171A>G (p.Thr4057=)
c.1125A>G (p.Thr375=)
c.265+87146A>G (n.265+87146A>G)
n.2590A>G
n.748A>G
n.12184A>G
c.12168A>G (p.Thr4056=)
c.12090A>G (p.Thr4030=)
c.9474A>G (p.Thr3158=)
c.12192A>G (p.Thr4064=)
c.12189A>G (p.Thr4063=)
c.12111A>G (p.Thr4037=)
c.12096A>G (p.Thr4032=)
c.5310A>G (p.Thr1770=)
c.5289A>G (p.Thr1763=)
n.12187A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90763355A>TCA445406451ADGRV1c.12171A>T (p.Thr4057=)
c.1125A>T (p.Thr375=)
c.265+87146A>T (n.265+87146A>T)
n.2590A>T
n.748A>T
n.12184A>T
c.12168A>T (p.Thr4056=)
c.12090A>T (p.Thr4030=)
c.9474A>T (p.Thr3158=)
c.12192A>T (p.Thr4064=)
c.12189A>T (p.Thr4063=)
c.12111A>T (p.Thr4037=)
c.12096A>T (p.Thr4032=)
c.5310A>T (p.Thr1770=)
c.5289A>T (p.Thr1763=)
n.12187A>T
5g.90763356T>ACA360377540ADGRV1c.12172T>A (p.Leu4058Met)
c.1126T>A (p.Leu376Met)
c.265+87147T>A (n.265+87147T>A)
n.2591T>A
n.749T>A
n.12185T>A
c.12169T>A (p.Leu4057Met)
c.12091T>A (p.Leu4031Met)
c.9475T>A (p.Leu3159Met)
c.12193T>A (p.Leu4065Met)
c.12190T>A (p.Leu4064Met)
c.12112T>A (p.Leu4038Met)
c.12097T>A (p.Leu4033Met)
c.5311T>A (p.Leu1771Met)
c.5290T>A (p.Leu1764Met)
n.12188T>A
 dbSNP gnomAD v4
5g.90763356T>CCA445406457ADGRV1c.12172T>C (p.Leu4058=)
c.1126T>C (p.Leu376=)
c.265+87147T>C (n.265+87147T>C)
n.2591T>C
n.749T>C
n.12185T>C
c.12169T>C (p.Leu4057=)
c.12091T>C (p.Leu4031=)
c.9475T>C (p.Leu3159=)
c.12193T>C (p.Leu4065=)
c.12190T>C (p.Leu4064=)
c.12112T>C (p.Leu4038=)
c.12097T>C (p.Leu4033=)
c.5311T>C (p.Leu1771=)
c.5290T>C (p.Leu1764=)
n.12188T>C
5g.90763356T>GCA360377544ADGRV1c.12172T>G (p.Leu4058Val)
c.1126T>G (p.Leu376Val)
c.265+87147T>G (n.265+87147T>G)
n.2591T>G
n.749T>G
n.12185T>G
c.12169T>G (p.Leu4057Val)
c.12091T>G (p.Leu4031Val)
c.9475T>G (p.Leu3159Val)
c.12193T>G (p.Leu4065Val)
c.12190T>G (p.Leu4064Val)
c.12112T>G (p.Leu4038Val)
c.12097T>G (p.Leu4033Val)
c.5311T>G (p.Leu1771Val)
c.5290T>G (p.Leu1764Val)
n.12188T>G
5g.90763356T=CA1562889882ADGRV1c.12172T= (p.Leu4058=)
c.1126T= (p.Leu376=)
c.265+87147T= (n.265+87147T=)
n.2591T=
n.749T=
n.12185T=
c.12169T= (p.Leu4057=)
c.12091T= (p.Leu4031=)
c.9475T= (p.Leu3159=)
c.12193T= (p.Leu4065=)
c.12190T= (p.Leu4064=)
c.12112T= (p.Leu4038=)
c.12097T= (p.Leu4033=)
c.5311T= (p.Leu1771=)
c.5290T= (p.Leu1764=)
n.12188T=
5g.90763357T>ACA360377563ADGRV1c.12173T>A (p.Leu4058Ter)
c.1127T>A (p.Leu376Ter)
c.265+87148T>A (n.265+87148T>A)
n.2592T>A
n.750T>A
n.12186T>A
c.12170T>A (p.Leu4057Ter)
c.12092T>A (p.Leu4031Ter)
c.9476T>A (p.Leu3159Ter)
c.12194T>A (p.Leu4065Ter)
c.12191T>A (p.Leu4064Ter)
c.12113T>A (p.Leu4038Ter)
c.12098T>A (p.Leu4033Ter)
c.5312T>A (p.Leu1771Ter)
c.5291T>A (p.Leu1764Ter)
n.12189T>A
5g.90763357T>CCA360377550ADGRV1c.12173T>C (p.Leu4058Ser)
c.1127T>C (p.Leu376Ser)
c.265+87148T>C (n.265+87148T>C)
n.2592T>C
n.750T>C
n.12186T>C
c.12170T>C (p.Leu4057Ser)
c.12092T>C (p.Leu4031Ser)
c.9476T>C (p.Leu3159Ser)
c.12194T>C (p.Leu4065Ser)
c.12191T>C (p.Leu4064Ser)
c.12113T>C (p.Leu4038Ser)
c.12098T>C (p.Leu4033Ser)
c.5312T>C (p.Leu1771Ser)
c.5291T>C (p.Leu1764Ser)
n.12189T>C
5g.90763357T>GCA360377556ADGRV1c.12173T>G (p.Leu4058Trp)
c.1127T>G (p.Leu376Trp)
c.265+87148T>G (n.265+87148T>G)
n.2592T>G
n.750T>G
n.12186T>G
c.12170T>G (p.Leu4057Trp)
c.12092T>G (p.Leu4031Trp)
c.9476T>G (p.Leu3159Trp)
c.12194T>G (p.Leu4065Trp)
c.12191T>G (p.Leu4064Trp)
c.12113T>G (p.Leu4038Trp)
c.12098T>G (p.Leu4033Trp)
c.5312T>G (p.Leu1771Trp)
c.5291T>G (p.Leu1764Trp)
n.12189T>G
5g.90763358G>ACA3341164ADGRV1c.12174G>A (p.Leu4058=)
c.1128G>A (p.Leu376=)
c.265+87149G>A (n.265+87149G>A)
n.2593G>A
n.751G>A
n.12187G>A
c.12171G>A (p.Leu4057=)
c.12093G>A (p.Leu4031=)
c.9477G>A (p.Leu3159=)
c.12195G>A (p.Leu4065=)
c.12192G>A (p.Leu4064=)
c.12114G>A (p.Leu4038=)
c.12099G>A (p.Leu4033=)
c.5313G>A (p.Leu1771=)
c.5292G>A (p.Leu1764=)
n.12190G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763358G>CCA360377585ADGRV1c.12174G>C (p.Leu4058Phe)
c.1128G>C (p.Leu376Phe)
c.265+87149G>C (n.265+87149G>C)
n.2593G>C
n.751G>C
n.12187G>C
c.12171G>C (p.Leu4057Phe)
c.12093G>C (p.Leu4031Phe)
c.9477G>C (p.Leu3159Phe)
c.12195G>C (p.Leu4065Phe)
c.12192G>C (p.Leu4064Phe)
c.12114G>C (p.Leu4038Phe)
c.12099G>C (p.Leu4033Phe)
c.5313G>C (p.Leu1771Phe)
c.5292G>C (p.Leu1764Phe)
n.12190G>C
5g.90763358G=CA1562889883ADGRV1c.12174G= (p.Leu4058=)
c.1128G= (p.Leu376=)
c.265+87149G= (n.265+87149G=)
n.2593G=
n.751G=
n.12187G=
c.12171G= (p.Leu4057=)
c.12093G= (p.Leu4031=)
c.9477G= (p.Leu3159=)
c.12195G= (p.Leu4065=)
c.12192G= (p.Leu4064=)
c.12114G= (p.Leu4038=)
c.12099G= (p.Leu4033=)
c.5313G= (p.Leu1771=)
c.5292G= (p.Leu1764=)
n.12190G=
5g.90763358G>TCA360377604ADGRV1c.12174G>T (p.Leu4058Phe)
c.1128G>T (p.Leu376Phe)
c.265+87149G>T (n.265+87149G>T)
n.2593G>T
n.751G>T
n.12187G>T
c.12171G>T (p.Leu4057Phe)
c.12093G>T (p.Leu4031Phe)
c.9477G>T (p.Leu3159Phe)
c.12195G>T (p.Leu4065Phe)
c.12192G>T (p.Leu4064Phe)
c.12114G>T (p.Leu4038Phe)
c.12099G>T (p.Leu4033Phe)
c.5313G>T (p.Leu1771Phe)
c.5292G>T (p.Leu1764Phe)
n.12190G>T
 COSMIC
5g.90763359A=CA1562889884ADGRV1c.12175A= (p.Thr4059=)
c.1129A= (p.Thr377=)
c.265+87150A= (n.265+87150A=)
n.2594A=
n.752A=
n.12188A=
c.12172A= (p.Thr4058=)
c.12094A= (p.Thr4032=)
c.9478A= (p.Thr3160=)
c.12196A= (p.Thr4066=)
c.12193A= (p.Thr4065=)
c.12115A= (p.Thr4039=)
c.12100A= (p.Thr4034=)
c.5314A= (p.Thr1772=)
c.5293A= (p.Thr1765=)
n.12191A=
5g.90763359A>CCA360377616ADGRV1c.12175A>C (p.Thr4059Pro)
c.1129A>C (p.Thr377Pro)
c.265+87150A>C (n.265+87150A>C)
n.2594A>C
n.752A>C
n.12188A>C
c.12172A>C (p.Thr4058Pro)
c.12094A>C (p.Thr4032Pro)
c.9478A>C (p.Thr3160Pro)
c.12196A>C (p.Thr4066Pro)
c.12193A>C (p.Thr4065Pro)
c.12115A>C (p.Thr4039Pro)
c.12100A>C (p.Thr4034Pro)
c.5314A>C (p.Thr1772Pro)
c.5293A>C (p.Thr1765Pro)
n.12191A>C
5g.90763359A>GCA122800381ADGRV1c.12175A>G (p.Thr4059Ala)
c.1129A>G (p.Thr377Ala)
c.265+87150A>G (n.265+87150A>G)
n.2594A>G
n.752A>G
n.12188A>G
c.12172A>G (p.Thr4058Ala)
c.12094A>G (p.Thr4032Ala)
c.9478A>G (p.Thr3160Ala)
c.12196A>G (p.Thr4066Ala)
c.12193A>G (p.Thr4065Ala)
c.12115A>G (p.Thr4039Ala)
c.12100A>G (p.Thr4034Ala)
c.5314A>G (p.Thr1772Ala)
c.5293A>G (p.Thr1765Ala)
n.12191A>G
 dbSNP
5g.90763359A>TCA360377617ADGRV1c.12175A>T (p.Thr4059Ser)
c.1129A>T (p.Thr377Ser)
c.265+87150A>T (n.265+87150A>T)
n.2594A>T
n.752A>T
n.12188A>T
c.12172A>T (p.Thr4058Ser)
c.12094A>T (p.Thr4032Ser)
c.9478A>T (p.Thr3160Ser)
c.12196A>T (p.Thr4066Ser)
c.12193A>T (p.Thr4065Ser)
c.12115A>T (p.Thr4039Ser)
c.12100A>T (p.Thr4034Ser)
c.5314A>T (p.Thr1772Ser)
c.5293A>T (p.Thr1765Ser)
n.12191A>T
5g.90763360C>ACA360377622ADGRV1c.12176C>A (p.Thr4059Lys)
c.1130C>A (p.Thr377Lys)
c.265+87151C>A (n.265+87151C>A)
n.2595C>A
n.753C>A
n.12189C>A
c.12173C>A (p.Thr4058Lys)
c.12095C>A (p.Thr4032Lys)
c.9479C>A (p.Thr3160Lys)
c.12197C>A (p.Thr4066Lys)
c.12194C>A (p.Thr4065Lys)
c.12116C>A (p.Thr4039Lys)
c.12101C>A (p.Thr4034Lys)
c.5315C>A (p.Thr1772Lys)
c.5294C>A (p.Thr1765Lys)
n.12192C>A
5g.90763360C=CA1562889885ADGRV1c.12176C= (p.Thr4059=)
c.1130C= (p.Thr377=)
c.265+87151C= (n.265+87151C=)
n.2595C=
n.753C=
n.12189C=
c.12173C= (p.Thr4058=)
c.12095C= (p.Thr4032=)
c.9479C= (p.Thr3160=)
c.12197C= (p.Thr4066=)
c.12194C= (p.Thr4065=)
c.12116C= (p.Thr4039=)
c.12101C= (p.Thr4034=)
c.5315C= (p.Thr1772=)
c.5294C= (p.Thr1765=)
n.12192C=
5g.90763360C>GCA360377618ADGRV1c.12176C>G (p.Thr4059Arg)
c.1130C>G (p.Thr377Arg)
c.265+87151C>G (n.265+87151C>G)
n.2595C>G
n.753C>G
n.12189C>G
c.12173C>G (p.Thr4058Arg)
c.12095C>G (p.Thr4032Arg)
c.9479C>G (p.Thr3160Arg)
c.12197C>G (p.Thr4066Arg)
c.12194C>G (p.Thr4065Arg)
c.12116C>G (p.Thr4039Arg)
c.12101C>G (p.Thr4034Arg)
c.5315C>G (p.Thr1772Arg)
c.5294C>G (p.Thr1765Arg)
n.12192C>G
5g.90763360C>TCA3341165ADGRV1c.12176C>T (p.Thr4059Met)
c.1130C>T (p.Thr377Met)
c.265+87151C>T (n.265+87151C>T)
n.2595C>T
n.753C>T
n.12189C>T
c.12173C>T (p.Thr4058Met)
c.12095C>T (p.Thr4032Met)
c.9479C>T (p.Thr3160Met)
c.12197C>T (p.Thr4066Met)
c.12194C>T (p.Thr4065Met)
c.12116C>T (p.Thr4039Met)
c.12101C>T (p.Thr4034Met)
c.5315C>T (p.Thr1772Met)
c.5294C>T (p.Thr1765Met)
n.12192C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763361G>ACA445406473ADGRV1c.12177G>A (p.Thr4059=)
c.1131G>A (p.Thr377=)
c.265+87152G>A (n.265+87152G>A)
n.2596G>A
n.754G>A
n.12190G>A
c.12174G>A (p.Thr4058=)
c.12096G>A (p.Thr4032=)
c.9480G>A (p.Thr3160=)
c.12198G>A (p.Thr4066=)
c.12195G>A (p.Thr4065=)
c.12117G>A (p.Thr4039=)
c.12102G>A (p.Thr4034=)
c.5316G>A (p.Thr1772=)
c.5295G>A (p.Thr1765=)
n.12193G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90763361G>CCA445406474ADGRV1c.12177G>C (p.Thr4059=)
c.1131G>C (p.Thr377=)
c.265+87152G>C (n.265+87152G>C)
n.2596G>C
n.754G>C
n.12190G>C
c.12174G>C (p.Thr4058=)
c.12096G>C (p.Thr4032=)
c.9480G>C (p.Thr3160=)
c.12198G>C (p.Thr4066=)
c.12195G>C (p.Thr4065=)
c.12117G>C (p.Thr4039=)
c.12102G>C (p.Thr4034=)
c.5316G>C (p.Thr1772=)
c.5295G>C (p.Thr1765=)
n.12193G>C
5g.90763361G=CA1562889886ADGRV1c.12177G= (p.Thr4059=)
c.1131G= (p.Thr377=)
c.265+87152G= (n.265+87152G=)
n.2596G=
n.754G=
n.12190G=
c.12174G= (p.Thr4058=)
c.12096G= (p.Thr4032=)
c.9480G= (p.Thr3160=)
c.12198G= (p.Thr4066=)
c.12195G= (p.Thr4065=)
c.12117G= (p.Thr4039=)
c.12102G= (p.Thr4034=)
c.5316G= (p.Thr1772=)
c.5295G= (p.Thr1765=)
n.12193G=
5g.90763361G>TCA445406475ADGRV1c.12177G>T (p.Thr4059=)
c.1131G>T (p.Thr377=)
c.265+87152G>T (n.265+87152G>T)
n.2596G>T
n.754G>T
n.12190G>T
c.12174G>T (p.Thr4058=)
c.12096G>T (p.Thr4032=)
c.9480G>T (p.Thr3160=)
c.12198G>T (p.Thr4066=)
c.12195G>T (p.Thr4065=)
c.12117G>T (p.Thr4039=)
c.12102G>T (p.Thr4034=)
c.5316G>T (p.Thr1772=)
c.5295G>T (p.Thr1765=)
n.12193G>T
 COSMIC
5g.90763361_90763365delCA2695204643ADGRV1c.12177_12181del (p.Val4060ProfsTer12)
c.1131_1135del (p.Val378ProfsTer12)
c.265+87152_265+87156del (n.265+87152_265+87156del)
n.2596_2600del
n.754_758del
n.12190_12194del
c.12174_12178del (p.Val4059ProfsTer12)
c.12096_12100del (p.Val4033ProfsTer12)
c.9480_9484del (p.Val3161ProfsTer12)
c.12198_12202del (p.Val4067ProfsTer12)
c.12195_12199del (p.Val4066ProfsTer12)
c.12117_12121del (p.Val4040ProfsTer12)
c.12102_12106del (p.Val4035ProfsTer12)
c.5316_5320del (p.Val1773ProfsTer12)
c.5295_5299del (p.Val1766ProfsTer12)
n.12193_12197del
5g.90763362G>ACA360377630ADGRV1c.12178G>A (p.Val4060Ile)
c.1132G>A (p.Val378Ile)
c.265+87153G>A (n.265+87153G>A)
n.2597G>A
n.755G>A
n.12191G>A
c.12175G>A (p.Val4059Ile)
c.12097G>A (p.Val4033Ile)
c.9481G>A (p.Val3161Ile)
c.12199G>A (p.Val4067Ile)
c.12196G>A (p.Val4066Ile)
c.12118G>A (p.Val4040Ile)
c.12103G>A (p.Val4035Ile)
c.5317G>A (p.Val1773Ile)
c.5296G>A (p.Val1766Ile)
n.12194G>A
5g.90763362G>CCA360377644ADGRV1c.12178G>C (p.Val4060Leu)
c.1132G>C (p.Val378Leu)
c.265+87153G>C (n.265+87153G>C)
n.2597G>C
n.755G>C
n.12191G>C
c.12175G>C (p.Val4059Leu)
c.12097G>C (p.Val4033Leu)
c.9481G>C (p.Val3161Leu)
c.12199G>C (p.Val4067Leu)
c.12196G>C (p.Val4066Leu)
c.12118G>C (p.Val4040Leu)
c.12103G>C (p.Val4035Leu)
c.5317G>C (p.Val1773Leu)
c.5296G>C (p.Val1766Leu)
n.12194G>C
5g.90763362G>TCA360377647ADGRV1c.12178G>T (p.Val4060Phe)
c.1132G>T (p.Val378Phe)
c.265+87153G>T (n.265+87153G>T)
n.2597G>T
n.755G>T
n.12191G>T
c.12175G>T (p.Val4059Phe)
c.12097G>T (p.Val4033Phe)
c.9481G>T (p.Val3161Phe)
c.12199G>T (p.Val4067Phe)
c.12196G>T (p.Val4066Phe)
c.12118G>T (p.Val4040Phe)
c.12103G>T (p.Val4035Phe)
c.5317G>T (p.Val1773Phe)
c.5296G>T (p.Val1766Phe)
n.12194G>T
5g.90763363T>ACA360377657ADGRV1c.12179T>A (p.Val4060Asp)
c.1133T>A (p.Val378Asp)
c.265+87154T>A (n.265+87154T>A)
n.2598T>A
n.756T>A
n.12192T>A
c.12176T>A (p.Val4059Asp)
c.12098T>A (p.Val4033Asp)
c.9482T>A (p.Val3161Asp)
c.12200T>A (p.Val4067Asp)
c.12197T>A (p.Val4066Asp)
c.12119T>A (p.Val4040Asp)
c.12104T>A (p.Val4035Asp)
c.5318T>A (p.Val1773Asp)
c.5297T>A (p.Val1766Asp)
n.12195T>A
5g.90763363T>CCA360377664ADGRV1c.12179T>C (p.Val4060Ala)
c.1133T>C (p.Val378Ala)
c.265+87154T>C (n.265+87154T>C)
n.2598T>C
n.756T>C
n.12192T>C
c.12176T>C (p.Val4059Ala)
c.12098T>C (p.Val4033Ala)
c.9482T>C (p.Val3161Ala)
c.12200T>C (p.Val4067Ala)
c.12197T>C (p.Val4066Ala)
c.12119T>C (p.Val4040Ala)
c.12104T>C (p.Val4035Ala)
c.5318T>C (p.Val1773Ala)
c.5297T>C (p.Val1766Ala)
n.12195T>C
5g.90763363T>GCA360377673ADGRV1c.12179T>G (p.Val4060Gly)
c.1133T>G (p.Val378Gly)
c.265+87154T>G (n.265+87154T>G)
n.2598T>G
n.756T>G
n.12192T>G
c.12176T>G (p.Val4059Gly)
c.12098T>G (p.Val4033Gly)
c.9482T>G (p.Val3161Gly)
c.12200T>G (p.Val4067Gly)
c.12197T>G (p.Val4066Gly)
c.12119T>G (p.Val4040Gly)
c.12104T>G (p.Val4035Gly)
c.5318T>G (p.Val1773Gly)
c.5297T>G (p.Val1766Gly)
n.12195T>G
5g.90763364T>ACA445406501ADGRV1c.12180T>A (p.Val4060=)
c.1134T>A (p.Val378=)
c.265+87155T>A (n.265+87155T>A)
n.2599T>A
n.757T>A
n.12193T>A
c.12177T>A (p.Val4059=)
c.12099T>A (p.Val4033=)
c.9483T>A (p.Val3161=)
c.12201T>A (p.Val4067=)
c.12198T>A (p.Val4066=)
c.12120T>A (p.Val4040=)
c.12105T>A (p.Val4035=)
c.5319T>A (p.Val1773=)
c.5298T>A (p.Val1766=)
n.12196T>A
5g.90763364T>CCA445406505ADGRV1c.12180T>C (p.Val4060=)
c.1134T>C (p.Val378=)
c.265+87155T>C (n.265+87155T>C)
n.2599T>C
n.757T>C
n.12193T>C
c.12177T>C (p.Val4059=)
c.12099T>C (p.Val4033=)
c.9483T>C (p.Val3161=)
c.12201T>C (p.Val4067=)
c.12198T>C (p.Val4066=)
c.12120T>C (p.Val4040=)
c.12105T>C (p.Val4035=)
c.5319T>C (p.Val1773=)
c.5298T>C (p.Val1766=)
n.12196T>C
5g.90763364T>GCA445406498ADGRV1c.12180T>G (p.Val4060=)
c.1134T>G (p.Val378=)
c.265+87155T>G (n.265+87155T>G)
n.2599T>G
n.757T>G
n.12193T>G
c.12177T>G (p.Val4059=)
c.12099T>G (p.Val4033=)
c.9483T>G (p.Val3161=)
c.12201T>G (p.Val4067=)
c.12198T>G (p.Val4066=)
c.12120T>G (p.Val4040=)
c.12105T>G (p.Val4035=)
c.5319T>G (p.Val1773=)
c.5298T>G (p.Val1766=)
n.12196T>G
 gnomAD v4
5g.90763365G>ACA360377683ADGRV1c.12181G>A (p.Val4061Ile)
c.1135G>A (p.Val379Ile)
c.265+87156G>A (n.265+87156G>A)
n.2600G>A
n.758G>A
n.12194G>A
c.12178G>A (p.Val4060Ile)
c.12100G>A (p.Val4034Ile)
c.9484G>A (p.Val3162Ile)
c.12202G>A (p.Val4068Ile)
c.12199G>A (p.Val4067Ile)
c.12121G>A (p.Val4041Ile)
c.12106G>A (p.Val4036Ile)
c.5320G>A (p.Val1774Ile)
c.5299G>A (p.Val1767Ile)
n.12197G>A
 gnomAD v4
5g.90763365G>CCA3341166ADGRV1c.12181G>C (p.Val4061Leu)
c.1135G>C (p.Val379Leu)
c.265+87156G>C (n.265+87156G>C)
n.2600G>C
n.758G>C
n.12194G>C
c.12178G>C (p.Val4060Leu)
c.12100G>C (p.Val4034Leu)
c.9484G>C (p.Val3162Leu)
c.12202G>C (p.Val4068Leu)
c.12199G>C (p.Val4067Leu)
c.12121G>C (p.Val4041Leu)
c.12106G>C (p.Val4036Leu)
c.5320G>C (p.Val1774Leu)
c.5299G>C (p.Val1767Leu)
n.12197G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763365G=CA1562889887ADGRV1c.12181G= (p.Val4061=)
c.1135G= (p.Val379=)
c.265+87156G= (n.265+87156G=)
n.2600G=
n.758G=
n.12194G=
c.12178G= (p.Val4060=)
c.12100G= (p.Val4034=)
c.9484G= (p.Val3162=)
c.12202G= (p.Val4068=)
c.12199G= (p.Val4067=)
c.12121G= (p.Val4041=)
c.12106G= (p.Val4036=)
c.5320G= (p.Val1774=)
c.5299G= (p.Val1767=)
n.12197G=
5g.90763365G>TCA176223ADGRV1c.12181G>T (p.Val4061Phe)
c.1135G>T (p.Val379Phe)
c.265+87156G>T (n.265+87156G>T)
n.2600G>T
n.758G>T
n.12194G>T
c.12178G>T (p.Val4060Phe)
c.12100G>T (p.Val4034Phe)
c.9484G>T (p.Val3162Phe)
c.12202G>T (p.Val4068Phe)
c.12199G>T (p.Val4067Phe)
c.12121G>T (p.Val4041Phe)
c.12106G>T (p.Val4036Phe)
c.5320G>T (p.Val1774Phe)
c.5299G>T (p.Val1767Phe)
n.12197G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763366T>ACA360377691ADGRV1c.12182T>A (p.Val4061Asp)
c.1136T>A (p.Val379Asp)
c.265+87157T>A (n.265+87157T>A)
n.2601T>A
n.759T>A
n.12195T>A
c.12179T>A (p.Val4060Asp)
c.12101T>A (p.Val4034Asp)
c.9485T>A (p.Val3162Asp)
c.12203T>A (p.Val4068Asp)
c.12200T>A (p.Val4067Asp)
c.12122T>A (p.Val4041Asp)
c.12107T>A (p.Val4036Asp)
c.5321T>A (p.Val1774Asp)
c.5300T>A (p.Val1767Asp)
n.12198T>A
5g.90763366T>CCA360377696ADGRV1c.12182T>C (p.Val4061Ala)
c.1136T>C (p.Val379Ala)
c.265+87157T>C (n.265+87157T>C)
n.2601T>C
n.759T>C
n.12195T>C
c.12179T>C (p.Val4060Ala)
c.12101T>C (p.Val4034Ala)
c.9485T>C (p.Val3162Ala)
c.12203T>C (p.Val4068Ala)
c.12200T>C (p.Val4067Ala)
c.12122T>C (p.Val4041Ala)
c.12107T>C (p.Val4036Ala)
c.5321T>C (p.Val1774Ala)
c.5300T>C (p.Val1767Ala)
n.12198T>C
5g.90763366T>GCA360377704ADGRV1c.12182T>G (p.Val4061Gly)
c.1136T>G (p.Val379Gly)
c.265+87157T>G (n.265+87157T>G)
n.2601T>G
n.759T>G
n.12195T>G
c.12179T>G (p.Val4060Gly)
c.12101T>G (p.Val4034Gly)
c.9485T>G (p.Val3162Gly)
c.12203T>G (p.Val4068Gly)
c.12200T>G (p.Val4067Gly)
c.12122T>G (p.Val4041Gly)
c.12107T>G (p.Val4036Gly)
c.5321T>G (p.Val1774Gly)
c.5300T>G (p.Val1767Gly)
n.12198T>G
5g.90763367C>ACA445406530ADGRV1c.12183C>A (p.Val4061=)
c.1137C>A (p.Val379=)
c.265+87158C>A (n.265+87158C>A)
n.2602C>A
n.760C>A
n.12196C>A
c.12180C>A (p.Val4060=)
c.12102C>A (p.Val4034=)
c.9486C>A (p.Val3162=)
c.12204C>A (p.Val4068=)
c.12201C>A (p.Val4067=)
c.12123C>A (p.Val4041=)
c.12108C>A (p.Val4036=)
c.5322C>A (p.Val1774=)
c.5301C>A (p.Val1767=)
n.12199C>A
5g.90763367C>GCA445406534ADGRV1c.12183C>G (p.Val4061=)
c.1137C>G (p.Val379=)
c.265+87158C>G (n.265+87158C>G)
n.2602C>G
n.760C>G
n.12196C>G
c.12180C>G (p.Val4060=)
c.12102C>G (p.Val4034=)
c.9486C>G (p.Val3162=)
c.12204C>G (p.Val4068=)
c.12201C>G (p.Val4067=)
c.12123C>G (p.Val4041=)
c.12108C>G (p.Val4036=)
c.5322C>G (p.Val1774=)
c.5301C>G (p.Val1767=)
n.12199C>G
5g.90763367C>TCA445406531ADGRV1c.12183C>T (p.Val4061=)
c.1137C>T (p.Val379=)
c.265+87158C>T (n.265+87158C>T)
n.2602C>T
n.760C>T
n.12196C>T
c.12180C>T (p.Val4060=)
c.12102C>T (p.Val4034=)
c.9486C>T (p.Val3162=)
c.12204C>T (p.Val4068=)
c.12201C>T (p.Val4067=)
c.12123C>T (p.Val4041=)
c.12108C>T (p.Val4036=)
c.5322C>T (p.Val1774=)
c.5301C>T (p.Val1767=)
n.12199C>T
 ClinVar
5g.90763368C>ACA445406537ADGRV1c.12184C>A (p.Arg4062=)
c.1138C>A (p.Arg380=)
c.265+87159C>A (n.265+87159C>A)
n.2603C>A
n.761C>A
n.12197C>A
c.12181C>A (p.Arg4061=)
c.12103C>A (p.Arg4035=)
c.9487C>A (p.Arg3163=)
c.12205C>A (p.Arg4069=)
c.12202C>A (p.Arg4068=)
c.12124C>A (p.Arg4042=)
c.12109C>A (p.Arg4037=)
c.5323C>A (p.Arg1775=)
c.5302C>A (p.Arg1768=)
n.12200C>A
5g.90763368C=CA1562889888ADGRV1c.12184C= (p.Arg4062=)
c.1138C= (p.Arg380=)
c.265+87159C= (n.265+87159C=)
n.2603C=
n.761C=
n.12197C=
c.12181C= (p.Arg4061=)
c.12103C= (p.Arg4035=)
c.9487C= (p.Arg3163=)
c.12205C= (p.Arg4069=)
c.12202C= (p.Arg4068=)
c.12124C= (p.Arg4042=)
c.12109C= (p.Arg4037=)
c.5323C= (p.Arg1775=)
c.5302C= (p.Arg1768=)
n.12200C=
5g.90763368C>GCA360377711ADGRV1c.12184C>G (p.Arg4062Gly)
c.1138C>G (p.Arg380Gly)
c.265+87159C>G (n.265+87159C>G)
n.2603C>G
n.761C>G
n.12197C>G
c.12181C>G (p.Arg4061Gly)
c.12103C>G (p.Arg4035Gly)
c.9487C>G (p.Arg3163Gly)
c.12205C>G (p.Arg4069Gly)
c.12202C>G (p.Arg4068Gly)
c.12124C>G (p.Arg4042Gly)
c.12109C>G (p.Arg4037Gly)
c.5323C>G (p.Arg1775Gly)
c.5302C>G (p.Arg1768Gly)
n.12200C>G
5g.90763368C>TCA3341167ADGRV1c.12184C>T (p.Arg4062Trp)
c.1138C>T (p.Arg380Trp)
c.265+87159C>T (n.265+87159C>T)
n.2603C>T
n.761C>T
n.12197C>T
c.12181C>T (p.Arg4061Trp)
c.12103C>T (p.Arg4035Trp)
c.9487C>T (p.Arg3163Trp)
c.12205C>T (p.Arg4069Trp)
c.12202C>T (p.Arg4068Trp)
c.12124C>T (p.Arg4042Trp)
c.12109C>T (p.Arg4037Trp)
c.5323C>T (p.Arg1775Trp)
c.5302C>T (p.Arg1768Trp)
n.12200C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763369G>ACA3341168ADGRV1c.12185G>A (p.Arg4062Gln)
c.1139G>A (p.Arg380Gln)
c.265+87160G>A (n.265+87160G>A)
n.2604G>A
n.762G>A
n.12198G>A
c.12182G>A (p.Arg4061Gln)
c.12104G>A (p.Arg4035Gln)
c.9488G>A (p.Arg3163Gln)
c.12206G>A (p.Arg4069Gln)
c.12203G>A (p.Arg4068Gln)
c.12125G>A (p.Arg4042Gln)
c.12110G>A (p.Arg4037Gln)
c.5324G>A (p.Arg1775Gln)
c.5303G>A (p.Arg1768Gln)
n.12201G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763369G>CCA3341169ADGRV1c.12185G>C (p.Arg4062Pro)
c.1139G>C (p.Arg380Pro)
c.265+87160G>C (n.265+87160G>C)
n.2604G>C
n.762G>C
n.12198G>C
c.12182G>C (p.Arg4061Pro)
c.12104G>C (p.Arg4035Pro)
c.9488G>C (p.Arg3163Pro)
c.12206G>C (p.Arg4069Pro)
c.12203G>C (p.Arg4068Pro)
c.12125G>C (p.Arg4042Pro)
c.12110G>C (p.Arg4037Pro)
c.5324G>C (p.Arg1775Pro)
c.5303G>C (p.Arg1768Pro)
n.12201G>C
 dbSNP ExAC gnomAD v2
5g.90763369G=CA1562889889ADGRV1c.12185G= (p.Arg4062=)
c.1139G= (p.Arg380=)
c.265+87160G= (n.265+87160G=)
n.2604G=
n.762G=
n.12198G=
c.12182G= (p.Arg4061=)
c.12104G= (p.Arg4035=)
c.9488G= (p.Arg3163=)
c.12206G= (p.Arg4069=)
c.12203G= (p.Arg4068=)
c.12125G= (p.Arg4042=)
c.12110G= (p.Arg4037=)
c.5324G= (p.Arg1775=)
c.5303G= (p.Arg1768=)
n.12201G=
5g.90763369G>TCA122800386ADGRV1c.12185G>T (p.Arg4062Leu)
c.1139G>T (p.Arg380Leu)
c.265+87160G>T (n.265+87160G>T)
n.2604G>T
n.762G>T
n.12198G>T
c.12182G>T (p.Arg4061Leu)
c.12104G>T (p.Arg4035Leu)
c.9488G>T (p.Arg3163Leu)
c.12206G>T (p.Arg4069Leu)
c.12203G>T (p.Arg4068Leu)
c.12125G>T (p.Arg4042Leu)
c.12110G>T (p.Arg4037Leu)
c.5324G>T (p.Arg1775Leu)
c.5303G>T (p.Arg1768Leu)
n.12201G>T
 dbSNP
5g.90763370G>ACA445406546ADGRV1c.12186G>A (p.Arg4062=)
c.1140G>A (p.Arg380=)
c.265+87161G>A (n.265+87161G>A)
n.2605G>A
n.763G>A
n.12199G>A
c.12183G>A (p.Arg4061=)
c.12105G>A (p.Arg4035=)
c.9489G>A (p.Arg3163=)
c.12207G>A (p.Arg4069=)
c.12204G>A (p.Arg4068=)
c.12126G>A (p.Arg4042=)
c.12111G>A (p.Arg4037=)
c.5325G>A (p.Arg1775=)
c.5304G>A (p.Arg1768=)
n.12202G>A
5g.90763370G>CCA445406547ADGRV1c.12186G>C (p.Arg4062=)
c.1140G>C (p.Arg380=)
c.265+87161G>C (n.265+87161G>C)
n.2605G>C
n.763G>C
n.12199G>C
c.12183G>C (p.Arg4061=)
c.12105G>C (p.Arg4035=)
c.9489G>C (p.Arg3163=)
c.12207G>C (p.Arg4069=)
c.12204G>C (p.Arg4068=)
c.12126G>C (p.Arg4042=)
c.12111G>C (p.Arg4037=)
c.5325G>C (p.Arg1775=)
c.5304G>C (p.Arg1768=)
n.12202G>C
5g.90763370G>TCA445406548ADGRV1c.12186G>T (p.Arg4062=)
c.1140G>T (p.Arg380=)
c.265+87161G>T (n.265+87161G>T)
n.2605G>T
n.763G>T
n.12199G>T
c.12183G>T (p.Arg4061=)
c.12105G>T (p.Arg4035=)
c.9489G>T (p.Arg3163=)
c.12207G>T (p.Arg4069=)
c.12204G>T (p.Arg4068=)
c.12126G>T (p.Arg4042=)
c.12111G>T (p.Arg4037=)
c.5325G>T (p.Arg1775=)
c.5304G>T (p.Arg1768=)
n.12202G>T
5g.90763371T>ACA360377742ADGRV1c.12187T>A (p.Ser4063Thr)
c.1141T>A (p.Ser381Thr)
c.265+87162T>A (n.265+87162T>A)
n.2606T>A
n.764T>A
n.12200T>A
c.12184T>A (p.Ser4062Thr)
c.12106T>A (p.Ser4036Thr)
c.9490T>A (p.Ser3164Thr)
c.12208T>A (p.Ser4070Thr)
c.12205T>A (p.Ser4069Thr)
c.12127T>A (p.Ser4043Thr)
c.12112T>A (p.Ser4038Thr)
c.5326T>A (p.Ser1776Thr)
c.5305T>A (p.Ser1769Thr)
n.12203T>A
5g.90763371T>CCA360377762ADGRV1c.12187T>C (p.Ser4063Pro)
c.1141T>C (p.Ser381Pro)
c.265+87162T>C (n.265+87162T>C)
n.2606T>C
n.764T>C
n.12200T>C
c.12184T>C (p.Ser4062Pro)
c.12106T>C (p.Ser4036Pro)
c.9490T>C (p.Ser3164Pro)
c.12208T>C (p.Ser4070Pro)
c.12205T>C (p.Ser4069Pro)
c.12127T>C (p.Ser4043Pro)
c.12112T>C (p.Ser4038Pro)
c.5326T>C (p.Ser1776Pro)
c.5305T>C (p.Ser1769Pro)
n.12203T>C
5g.90763371T>GCA360377767ADGRV1c.12187T>G (p.Ser4063Ala)
c.1141T>G (p.Ser381Ala)
c.265+87162T>G (n.265+87162T>G)
n.2606T>G
n.764T>G
n.12200T>G
c.12184T>G (p.Ser4062Ala)
c.12106T>G (p.Ser4036Ala)
c.9490T>G (p.Ser3164Ala)
c.12208T>G (p.Ser4070Ala)
c.12205T>G (p.Ser4069Ala)
c.12127T>G (p.Ser4043Ala)
c.12112T>G (p.Ser4038Ala)
c.5326T>G (p.Ser1776Ala)
c.5305T>G (p.Ser1769Ala)
n.12203T>G
5g.90763372C>ACA360377791ADGRV1c.12188C>A (p.Ser4063Tyr)
c.1142C>A (p.Ser381Tyr)
c.265+87163C>A (n.265+87163C>A)
n.2607C>A
n.765C>A
n.12201C>A
c.12185C>A (p.Ser4062Tyr)
c.12107C>A (p.Ser4036Tyr)
c.9491C>A (p.Ser3164Tyr)
c.12209C>A (p.Ser4070Tyr)
c.12206C>A (p.Ser4069Tyr)
c.12128C>A (p.Ser4043Tyr)
c.12113C>A (p.Ser4038Tyr)
c.5327C>A (p.Ser1776Tyr)
c.5306C>A (p.Ser1769Tyr)
n.12204C>A
5g.90763372C>GCA360377770ADGRV1c.12188C>G (p.Ser4063Cys)
c.1142C>G (p.Ser381Cys)
c.265+87163C>G (n.265+87163C>G)
n.2607C>G
n.765C>G
n.12201C>G
c.12185C>G (p.Ser4062Cys)
c.12107C>G (p.Ser4036Cys)
c.9491C>G (p.Ser3164Cys)
c.12209C>G (p.Ser4070Cys)
c.12206C>G (p.Ser4069Cys)
c.12128C>G (p.Ser4043Cys)
c.12113C>G (p.Ser4038Cys)
c.5327C>G (p.Ser1776Cys)
c.5306C>G (p.Ser1769Cys)
n.12204C>G
5g.90763372C>TCA360377772ADGRV1c.12188C>T (p.Ser4063Phe)
c.1142C>T (p.Ser381Phe)
c.265+87163C>T (n.265+87163C>T)
n.2607C>T
n.765C>T
n.12201C>T
c.12185C>T (p.Ser4062Phe)
c.12107C>T (p.Ser4036Phe)
c.9491C>T (p.Ser3164Phe)
c.12209C>T (p.Ser4070Phe)
c.12206C>T (p.Ser4069Phe)
c.12128C>T (p.Ser4043Phe)
c.12113C>T (p.Ser4038Phe)
c.5327C>T (p.Ser1776Phe)
c.5306C>T (p.Ser1769Phe)
n.12204C>T
5g.90763375delCA2578359790ADGRV1c.12191del (p.Pro4064GlnfsTer13)
c.1145del (p.Pro382GlnfsTer13)
c.265+87166del (n.265+87166del)
n.2610del
n.768del
n.12204del
c.12188del (p.Pro4063GlnfsTer13)
c.12110del (p.Pro4037GlnfsTer13)
c.9494del (p.Pro3165GlnfsTer13)
c.12212del (p.Pro4071GlnfsTer13)
c.12209del (p.Pro4070GlnfsTer13)
c.12131del (p.Pro4044GlnfsTer13)
c.12116del (p.Pro4039GlnfsTer13)
c.5330del (p.Pro1777GlnfsTer13)
c.5309del (p.Pro1770GlnfsTer13)
n.12207del
5g.90763373C>ACA445406562ADGRV1c.12189C>A (p.Ser4063=)
c.1143C>A (p.Ser381=)
c.265+87164C>A (n.265+87164C>A)
n.2608C>A
n.766C>A
n.12202C>A
c.12186C>A (p.Ser4062=)
c.12108C>A (p.Ser4036=)
c.9492C>A (p.Ser3164=)
c.12210C>A (p.Ser4070=)
c.12207C>A (p.Ser4069=)
c.12129C>A (p.Ser4043=)
c.12114C>A (p.Ser4038=)
c.5328C>A (p.Ser1776=)
c.5307C>A (p.Ser1769=)
n.12205C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90763373C=CA1562889890ADGRV1c.12189C= (p.Ser4063=)
c.1143C= (p.Ser381=)
c.265+87164C= (n.265+87164C=)
n.2608C=
n.766C=
n.12202C=
c.12186C= (p.Ser4062=)
c.12108C= (p.Ser4036=)
c.9492C= (p.Ser3164=)
c.12210C= (p.Ser4070=)
c.12207C= (p.Ser4069=)
c.12129C= (p.Ser4043=)
c.12114C= (p.Ser4038=)
c.5328C= (p.Ser1776=)
c.5307C= (p.Ser1769=)
n.12205C=
5g.90763373C>GCA445406564ADGRV1c.12189C>G (p.Ser4063=)
c.1143C>G (p.Ser381=)
c.265+87164C>G (n.265+87164C>G)
n.2608C>G
n.766C>G
n.12202C>G
c.12186C>G (p.Ser4062=)
c.12108C>G (p.Ser4036=)
c.9492C>G (p.Ser3164=)
c.12210C>G (p.Ser4070=)
c.12207C>G (p.Ser4069=)
c.12129C>G (p.Ser4043=)
c.12114C>G (p.Ser4038=)
c.5328C>G (p.Ser1776=)
c.5307C>G (p.Ser1769=)
n.12205C>G
5g.90763373C>TCA445406566ADGRV1c.12189C>T (p.Ser4063=)
c.1143C>T (p.Ser381=)
c.265+87164C>T (n.265+87164C>T)
n.2608C>T
n.766C>T
n.12202C>T
c.12186C>T (p.Ser4062=)
c.12108C>T (p.Ser4036=)
c.9492C>T (p.Ser3164=)
c.12210C>T (p.Ser4070=)
c.12207C>T (p.Ser4069=)
c.12129C>T (p.Ser4043=)
c.12114C>T (p.Ser4038=)
c.5328C>T (p.Ser1776=)
c.5307C>T (p.Ser1769=)
n.12205C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90763374C>ACA360377795ADGRV1c.12190C>A (p.Pro4064Thr)
c.1144C>A (p.Pro382Thr)
c.265+87165C>A (n.265+87165C>A)
n.2609C>A
n.767C>A
n.12203C>A
c.12187C>A (p.Pro4063Thr)
c.12109C>A (p.Pro4037Thr)
c.9493C>A (p.Pro3165Thr)
c.12211C>A (p.Pro4071Thr)
c.12208C>A (p.Pro4070Thr)
c.12130C>A (p.Pro4044Thr)
c.12115C>A (p.Pro4039Thr)
c.5329C>A (p.Pro1777Thr)
c.5308C>A (p.Pro1770Thr)
n.12206C>A
5g.90763374C=CA1562889891ADGRV1c.12190C= (p.Pro4064=)
c.1144C= (p.Pro382=)
c.265+87165C= (n.265+87165C=)
n.2609C=
n.767C=
n.12203C=
c.12187C= (p.Pro4063=)
c.12109C= (p.Pro4037=)
c.9493C= (p.Pro3165=)
c.12211C= (p.Pro4071=)
c.12208C= (p.Pro4070=)
c.12130C= (p.Pro4044=)
c.12115C= (p.Pro4039=)
c.5329C= (p.Pro1777=)
c.5308C= (p.Pro1770=)
n.12206C=
5g.90763374C>GCA360377799ADGRV1c.12190C>G (p.Pro4064Ala)
c.1144C>G (p.Pro382Ala)
c.265+87165C>G (n.265+87165C>G)
n.2609C>G
n.767C>G
n.12203C>G
c.12187C>G (p.Pro4063Ala)
c.12109C>G (p.Pro4037Ala)
c.9493C>G (p.Pro3165Ala)
c.12211C>G (p.Pro4071Ala)
c.12208C>G (p.Pro4070Ala)
c.12130C>G (p.Pro4044Ala)
c.12115C>G (p.Pro4039Ala)
c.5329C>G (p.Pro1777Ala)
c.5308C>G (p.Pro1770Ala)
n.12206C>G
 ClinVar dbSNP
5g.90763374C>TCA360377804ADGRV1c.12190C>T (p.Pro4064Ser)
c.1144C>T (p.Pro382Ser)
c.265+87165C>T (n.265+87165C>T)
n.2609C>T
n.767C>T
n.12203C>T
c.12187C>T (p.Pro4063Ser)
c.12109C>T (p.Pro4037Ser)
c.9493C>T (p.Pro3165Ser)
c.12211C>T (p.Pro4071Ser)
c.12208C>T (p.Pro4070Ser)
c.12130C>T (p.Pro4044Ser)
c.12115C>T (p.Pro4039Ser)
c.5329C>T (p.Pro1777Ser)
c.5308C>T (p.Pro1770Ser)
n.12206C>T
5g.90763375C>ACA360377811ADGRV1c.12191C>A (p.Pro4064Gln)
c.1145C>A (p.Pro382Gln)
c.265+87166C>A (n.265+87166C>A)
n.2610C>A
n.768C>A
n.12204C>A
c.12188C>A (p.Pro4063Gln)
c.12110C>A (p.Pro4037Gln)
c.9494C>A (p.Pro3165Gln)
c.12212C>A (p.Pro4071Gln)
c.12209C>A (p.Pro4070Gln)
c.12131C>A (p.Pro4044Gln)
c.12116C>A (p.Pro4039Gln)
c.5330C>A (p.Pro1777Gln)
c.5309C>A (p.Pro1770Gln)
n.12207C>A
5g.90763375C=CA1562889892ADGRV1c.12191C= (p.Pro4064=)
c.1145C= (p.Pro382=)
c.265+87166C= (n.265+87166C=)
n.2610C=
n.768C=
n.12204C=
c.12188C= (p.Pro4063=)
c.12110C= (p.Pro4037=)
c.9494C= (p.Pro3165=)
c.12212C= (p.Pro4071=)
c.12209C= (p.Pro4070=)
c.12131C= (p.Pro4044=)
c.12116C= (p.Pro4039=)
c.5330C= (p.Pro1777=)
c.5309C= (p.Pro1770=)
n.12207C=
5g.90763375C>GCA360377817ADGRV1c.12191C>G (p.Pro4064Arg)
c.1145C>G (p.Pro382Arg)
c.265+87166C>G (n.265+87166C>G)
n.2610C>G
n.768C>G
n.12204C>G
c.12188C>G (p.Pro4063Arg)
c.12110C>G (p.Pro4037Arg)
c.9494C>G (p.Pro3165Arg)
c.12212C>G (p.Pro4071Arg)
c.12209C>G (p.Pro4070Arg)
c.12131C>G (p.Pro4044Arg)
c.12116C>G (p.Pro4039Arg)
c.5330C>G (p.Pro1777Arg)
c.5309C>G (p.Pro1770Arg)
n.12207C>G
5g.90763375C>TCA3341170ADGRV1c.12191C>T (p.Pro4064Leu)
c.1145C>T (p.Pro382Leu)
c.265+87166C>T (n.265+87166C>T)
n.2610C>T
n.768C>T
n.12204C>T
c.12188C>T (p.Pro4063Leu)
c.12110C>T (p.Pro4037Leu)
c.9494C>T (p.Pro3165Leu)
c.12212C>T (p.Pro4071Leu)
c.12209C>T (p.Pro4070Leu)
c.12131C>T (p.Pro4044Leu)
c.12116C>T (p.Pro4039Leu)
c.5330C>T (p.Pro1777Leu)
c.5309C>T (p.Pro1770Leu)
n.12207C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763376A>CCA445406589ADGRV1c.12192A>C (p.Pro4064=)
c.1146A>C (p.Pro382=)
c.265+87167A>C (n.265+87167A>C)
n.2611A>C
n.769A>C
n.12205A>C
c.12189A>C (p.Pro4063=)
c.12111A>C (p.Pro4037=)
c.9495A>C (p.Pro3165=)
c.12213A>C (p.Pro4071=)
c.12210A>C (p.Pro4070=)
c.12132A>C (p.Pro4044=)
c.12117A>C (p.Pro4039=)
c.5331A>C (p.Pro1777=)
c.5310A>C (p.Pro1770=)
n.12208A>C
5g.90763376A>GCA445406587ADGRV1c.12192A>G (p.Pro4064=)
c.1146A>G (p.Pro382=)
c.265+87167A>G (n.265+87167A>G)
n.2611A>G
n.769A>G
n.12205A>G
c.12189A>G (p.Pro4063=)
c.12111A>G (p.Pro4037=)
c.9495A>G (p.Pro3165=)
c.12213A>G (p.Pro4071=)
c.12210A>G (p.Pro4070=)
c.12132A>G (p.Pro4044=)
c.12117A>G (p.Pro4039=)
c.5331A>G (p.Pro1777=)
c.5310A>G (p.Pro1770=)
n.12208A>G
5g.90763376A>TCA445406585ADGRV1c.12192A>T (p.Pro4064=)
c.1146A>T (p.Pro382=)
c.265+87167A>T (n.265+87167A>T)
n.2611A>T
n.769A>T
n.12205A>T
c.12189A>T (p.Pro4063=)
c.12111A>T (p.Pro4037=)
c.9495A>T (p.Pro3165=)
c.12213A>T (p.Pro4071=)
c.12210A>T (p.Pro4070=)
c.12132A>T (p.Pro4044=)
c.12117A>T (p.Pro4039=)
c.5331A>T (p.Pro1777=)
c.5310A>T (p.Pro1770=)
n.12208A>T
5g.90763377G>ACA122800389ADGRV1c.12193G>A (p.Gly4065Arg)
c.1147G>A (p.Gly383Arg)
c.265+87168G>A (n.265+87168G>A)
n.2612G>A
n.770G>A
n.12206G>A
c.12190G>A (p.Gly4064Arg)
c.12112G>A (p.Gly4038Arg)
c.9496G>A (p.Gly3166Arg)
c.12214G>A (p.Gly4072Arg)
c.12211G>A (p.Gly4071Arg)
c.12133G>A (p.Gly4045Arg)
c.12118G>A (p.Gly4040Arg)
c.5332G>A (p.Gly1778Arg)
c.5311G>A (p.Gly1771Arg)
n.12209G>A
 dbSNP gnomAD v4
5g.90763377G>CCA360377827ADGRV1c.12193G>C (p.Gly4065Arg)
c.1147G>C (p.Gly383Arg)
c.265+87168G>C (n.265+87168G>C)
n.2612G>C
n.770G>C
n.12206G>C
c.12190G>C (p.Gly4064Arg)
c.12112G>C (p.Gly4038Arg)
c.9496G>C (p.Gly3166Arg)
c.12214G>C (p.Gly4072Arg)
c.12211G>C (p.Gly4071Arg)
c.12133G>C (p.Gly4045Arg)
c.12118G>C (p.Gly4040Arg)
c.5332G>C (p.Gly1778Arg)
c.5311G>C (p.Gly1771Arg)
n.12209G>C
5g.90763377G=CA1562889893ADGRV1c.12193G= (p.Gly4065=)
c.1147G= (p.Gly383=)
c.265+87168G= (n.265+87168G=)
n.2612G=
n.770G=
n.12206G=
c.12190G= (p.Gly4064=)
c.12112G= (p.Gly4038=)
c.9496G= (p.Gly3166=)
c.12214G= (p.Gly4072=)
c.12211G= (p.Gly4071=)
c.12133G= (p.Gly4045=)
c.12118G= (p.Gly4040=)
c.5332G= (p.Gly1778=)
c.5311G= (p.Gly1771=)
n.12209G=
5g.90763377G>TCA360377830ADGRV1c.12193G>T (p.Gly4065Ter)
c.1147G>T (p.Gly383Ter)
c.265+87168G>T (n.265+87168G>T)
n.2612G>T
n.770G>T
n.12206G>T
c.12190G>T (p.Gly4064Ter)
c.12112G>T (p.Gly4038Ter)
c.9496G>T (p.Gly3166Ter)
c.12214G>T (p.Gly4072Ter)
c.12211G>T (p.Gly4071Ter)
c.12133G>T (p.Gly4045Ter)
c.12118G>T (p.Gly4040Ter)
c.5332G>T (p.Gly1778Ter)
c.5311G>T (p.Gly1771Ter)
n.12209G>T
5g.90763378G>ACA360377840ADGRV1c.12194G>A (p.Gly4065Glu)
c.1148G>A (p.Gly383Glu)
c.265+87169G>A (n.265+87169G>A)
n.2613G>A
n.771G>A
n.12207G>A
c.12191G>A (p.Gly4064Glu)
c.12113G>A (p.Gly4038Glu)
c.9497G>A (p.Gly3166Glu)
c.12215G>A (p.Gly4072Glu)
c.12212G>A (p.Gly4071Glu)
c.12134G>A (p.Gly4045Glu)
c.12119G>A (p.Gly4040Glu)
c.5333G>A (p.Gly1778Glu)
c.5312G>A (p.Gly1771Glu)
n.12210G>A
5g.90763378G>CCA360377842ADGRV1c.12194G>C (p.Gly4065Ala)
c.1148G>C (p.Gly383Ala)
c.265+87169G>C (n.265+87169G>C)
n.2613G>C
n.771G>C
n.12207G>C
c.12191G>C (p.Gly4064Ala)
c.12113G>C (p.Gly4038Ala)
c.9497G>C (p.Gly3166Ala)
c.12215G>C (p.Gly4072Ala)
c.12212G>C (p.Gly4071Ala)
c.12134G>C (p.Gly4045Ala)
c.12119G>C (p.Gly4040Ala)
c.5333G>C (p.Gly1778Ala)
c.5312G>C (p.Gly1771Ala)
n.12210G>C
5g.90763378G>TCA360377845ADGRV1c.12194G>T (p.Gly4065Val)
c.1148G>T (p.Gly383Val)
c.265+87169G>T (n.265+87169G>T)
n.2613G>T
n.771G>T
n.12207G>T
c.12191G>T (p.Gly4064Val)
c.12113G>T (p.Gly4038Val)
c.9497G>T (p.Gly3166Val)
c.12215G>T (p.Gly4072Val)
c.12212G>T (p.Gly4071Val)
c.12134G>T (p.Gly4045Val)
c.12119G>T (p.Gly4040Val)
c.5333G>T (p.Gly1778Val)
c.5312G>T (p.Gly1771Val)
n.12210G>T
5g.90763379A=CA1562889894ADGRV1c.12195A= (p.Gly4065=)
c.1149A= (p.Gly383=)
c.265+87170A= (n.265+87170A=)
n.2614A=
n.772A=
n.12208A=
c.12192A= (p.Gly4064=)
c.12114A= (p.Gly4038=)
c.9498A= (p.Gly3166=)
c.12216A= (p.Gly4072=)
c.12213A= (p.Gly4071=)
c.12135A= (p.Gly4045=)
c.12120A= (p.Gly4040=)
c.5334A= (p.Gly1778=)
c.5313A= (p.Gly1771=)
n.12211A=
5g.90763379A>CCA445406604ADGRV1c.12195A>C (p.Gly4065=)
c.1149A>C (p.Gly383=)
c.265+87170A>C (n.265+87170A>C)
n.2614A>C
n.772A>C
n.12208A>C
c.12192A>C (p.Gly4064=)
c.12114A>C (p.Gly4038=)
c.9498A>C (p.Gly3166=)
c.12216A>C (p.Gly4072=)
c.12213A>C (p.Gly4071=)
c.12135A>C (p.Gly4045=)
c.12120A>C (p.Gly4040=)
c.5334A>C (p.Gly1778=)
c.5313A>C (p.Gly1771=)
n.12211A>C
5g.90763379A>GCA3341171ADGRV1c.12195A>G (p.Gly4065=)
c.1149A>G (p.Gly383=)
c.265+87170A>G (n.265+87170A>G)
n.2614A>G
n.772A>G
n.12208A>G
c.12192A>G (p.Gly4064=)
c.12114A>G (p.Gly4038=)
c.9498A>G (p.Gly3166=)
c.12216A>G (p.Gly4072=)
c.12213A>G (p.Gly4071=)
c.12135A>G (p.Gly4045=)
c.12120A>G (p.Gly4040=)
c.5334A>G (p.Gly1778=)
c.5313A>G (p.Gly1771=)
n.12211A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763379A>TCA3341172ADGRV1c.12195A>T (p.Gly4065=)
c.1149A>T (p.Gly383=)
c.265+87170A>T (n.265+87170A>T)
n.2614A>T
n.772A>T
n.12208A>T
c.12192A>T (p.Gly4064=)
c.12114A>T (p.Gly4038=)
c.9498A>T (p.Gly3166=)
c.12216A>T (p.Gly4072=)
c.12213A>T (p.Gly4071=)
c.12135A>T (p.Gly4045=)
c.12120A>T (p.Gly4040=)
c.5334A>T (p.Gly1778=)
c.5313A>T (p.Gly1771=)
n.12211A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763380G>ACA3341173ADGRV1c.12196G>A (p.Gly4066Arg)
c.1150G>A (p.Gly384Arg)
c.265+87171G>A (n.265+87171G>A)
n.2615G>A
n.773G>A
n.12209G>A
c.12193G>A (p.Gly4065Arg)
c.12115G>A (p.Gly4039Arg)
c.9499G>A (p.Gly3167Arg)
c.12217G>A (p.Gly4073Arg)
c.12214G>A (p.Gly4072Arg)
c.12136G>A (p.Gly4046Arg)
c.12121G>A (p.Gly4041Arg)
c.5335G>A (p.Gly1779Arg)
c.5314G>A (p.Gly1772Arg)
n.12212G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90763380G>CCA360377864ADGRV1c.12196G>C (p.Gly4066Arg)
c.1150G>C (p.Gly384Arg)
c.265+87171G>C (n.265+87171G>C)
n.2615G>C
n.773G>C
n.12209G>C
c.12193G>C (p.Gly4065Arg)
c.12115G>C (p.Gly4039Arg)
c.9499G>C (p.Gly3167Arg)
c.12217G>C (p.Gly4073Arg)
c.12214G>C (p.Gly4072Arg)
c.12136G>C (p.Gly4046Arg)
c.12121G>C (p.Gly4041Arg)
c.5335G>C (p.Gly1779Arg)
c.5314G>C (p.Gly1772Arg)
n.12212G>C
5g.90763380G=CA1562889895ADGRV1c.12196G= (p.Gly4066=)
c.1150G= (p.Gly384=)
c.265+87171G= (n.265+87171G=)
n.2615G=
n.773G=
n.12209G=
c.12193G= (p.Gly4065=)
c.12115G= (p.Gly4039=)
c.9499G= (p.Gly3167=)
c.12217G= (p.Gly4073=)
c.12214G= (p.Gly4072=)
c.12136G= (p.Gly4046=)
c.12121G= (p.Gly4041=)
c.5335G= (p.Gly1779=)
c.5314G= (p.Gly1772=)
n.12212G=
5g.90763380G>TCA360377847ADGRV1c.12196G>T (p.Gly4066Ter)
c.1150G>T (p.Gly384Ter)
c.265+87171G>T (n.265+87171G>T)
n.2615G>T
n.773G>T
n.12209G>T
c.12193G>T (p.Gly4065Ter)
c.12115G>T (p.Gly4039Ter)
c.9499G>T (p.Gly3167Ter)
c.12217G>T (p.Gly4073Ter)
c.12214G>T (p.Gly4072Ter)
c.12136G>T (p.Gly4046Ter)
c.12121G>T (p.Gly4041Ter)
c.5335G>T (p.Gly1779Ter)
c.5314G>T (p.Gly1772Ter)
n.12212G>T
5g.90763380_90763393delinsGGAAAAGGAACCGTCA1562889896ADGRV1c.12196_12209delinsGGAAAAGGAACCGT (p.Gly4066=)
c.1150_1163delinsGGAAAAGGAACCGT (p.Gly384=)
c.265+87171_265+87184delinsGGAAAAGGAACCGT (n.265+87171_265+87184delinsGGAAAAGGAACCGT)
n.2615_2628delinsGGAAAAGGAACCGT
n.773_786delinsGGAAAAGGAACCGT
n.12209_12222delinsGGAAAAGGAACCGT
c.12193_12206delinsGGAAAAGGAACCGT (p.Gly4065=)
c.12115_12128delinsGGAAAAGGAACCGT (p.Gly4039=)
c.9499_9512delinsGGAAAAGGAACCGT (p.Gly3167=)
c.12217_12230delinsGGAAAAGGAACCGT (p.Gly4073=)
c.12214_12227delinsGGAAAAGGAACCGT (p.Gly4072=)
c.12136_12149delinsGGAAAAGGAACCGT (p.Gly4046=)
c.12121_12134delinsGGAAAAGGAACCGT (p.Gly4041=)
c.5335_5348delinsGGAAAAGGAACCGT (p.Gly1779=)
c.5314_5327delinsGGAAAAGGAACCGT (p.Gly1772=)
n.12212_12225delinsGGAAAAGGAACCGT
5g.90763381G>ACA360377870ADGRV1c.12197G>A (p.Gly4066Glu)
c.1151G>A (p.Gly384Glu)
c.265+87172G>A (n.265+87172G>A)
n.2616G>A
n.774G>A
n.12210G>A
c.12194G>A (p.Gly4065Glu)
c.12116G>A (p.Gly4039Glu)
c.9500G>A (p.Gly3167Glu)
c.12218G>A (p.Gly4073Glu)
c.12215G>A (p.Gly4072Glu)
c.12137G>A (p.Gly4046Glu)
c.12122G>A (p.Gly4041Glu)
c.5336G>A (p.Gly1779Glu)
c.5315G>A (p.Gly1772Glu)
n.12213G>A
 COSMIC
5g.90763381G>CCA360377875ADGRV1c.12197G>C (p.Gly4066Ala)
c.1151G>C (p.Gly384Ala)
c.265+87172G>C (n.265+87172G>C)
n.2616G>C
n.774G>C
n.12210G>C
c.12194G>C (p.Gly4065Ala)
c.12116G>C (p.Gly4039Ala)
c.9500G>C (p.Gly3167Ala)
c.12218G>C (p.Gly4073Ala)
c.12215G>C (p.Gly4072Ala)
c.12137G>C (p.Gly4046Ala)
c.12122G>C (p.Gly4041Ala)
c.5336G>C (p.Gly1779Ala)
c.5315G>C (p.Gly1772Ala)
n.12213G>C
5g.90763381G>TCA360377896ADGRV1c.12197G>T (p.Gly4066Val)
c.1151G>T (p.Gly384Val)
c.265+87172G>T (n.265+87172G>T)
n.2616G>T
n.774G>T
n.12210G>T
c.12194G>T (p.Gly4065Val)
c.12116G>T (p.Gly4039Val)
c.9500G>T (p.Gly3167Val)
c.12218G>T (p.Gly4073Val)
c.12215G>T (p.Gly4072Val)
c.12137G>T (p.Gly4046Val)
c.12122G>T (p.Gly4041Val)
c.5336G>T (p.Gly1779Val)
c.5315G>T (p.Gly1772Val)
n.12213G>T
5g.90763381_90763393delinsTGGGACA658796549ADGRV1c.12197_12209delinsTGGGA (p.Gly4066ValfsTer5)
c.1151_1163delinsTGGGA (p.Gly384ValfsTer5)
c.265+87172_265+87184delinsTGGGA (n.265+87172_265+87184delinsTGGGA)
n.2616_2628delinsTGGGA
n.774_786delinsTGGGA
n.12210_12222delinsTGGGA
c.12194_12206delinsTGGGA (p.Gly4065ValfsTer5)
c.12116_12128delinsTGGGA (p.Gly4039ValfsTer5)
c.9500_9512delinsTGGGA (p.Gly3167ValfsTer5)
c.12218_12230delinsTGGGA (p.Gly4073ValfsTer5)
c.12215_12227delinsTGGGA (p.Gly4072ValfsTer5)
c.12137_12149delinsTGGGA (p.Gly4046ValfsTer5)
c.12122_12134delinsTGGGA (p.Gly4041ValfsTer5)
c.5336_5348delinsTGGGA (p.Gly1779ValfsTer5)
c.5315_5327delinsTGGGA (p.Gly1772ValfsTer5)
n.12213_12225delinsTGGGA
 ClinVar dbSNP
5g.90763382A>CCA445406615ADGRV1c.12198A>C (p.Gly4066=)
c.1152A>C (p.Gly384=)
c.265+87173A>C (n.265+87173A>C)
n.2617A>C
n.775A>C
n.12211A>C
c.12195A>C (p.Gly4065=)
c.12117A>C (p.Gly4039=)
c.9501A>C (p.Gly3167=)
c.12219A>C (p.Gly4073=)
c.12216A>C (p.Gly4072=)
c.12138A>C (p.Gly4046=)
c.12123A>C (p.Gly4041=)
c.5337A>C (p.Gly1779=)
c.5316A>C (p.Gly1772=)
n.12214A>C
5g.90763382A>GCA445406624ADGRV1c.12198A>G (p.Gly4066=)
c.1152A>G (p.Gly384=)
c.265+87173A>G (n.265+87173A>G)
n.2617A>G
n.775A>G
n.12211A>G
c.12195A>G (p.Gly4065=)
c.12117A>G (p.Gly4039=)
c.9501A>G (p.Gly3167=)
c.12219A>G (p.Gly4073=)
c.12216A>G (p.Gly4072=)
c.12138A>G (p.Gly4046=)
c.12123A>G (p.Gly4041=)
c.5337A>G (p.Gly1779=)
c.5316A>G (p.Gly1772=)
n.12214A>G
 gnomAD v4
5g.90763382A>TCA445406628ADGRV1c.12198A>T (p.Gly4066=)
c.1152A>T (p.Gly384=)
c.265+87173A>T (n.265+87173A>T)
n.2617A>T
n.775A>T
n.12211A>T
c.12195A>T (p.Gly4065=)
c.12117A>T (p.Gly4039=)
c.9501A>T (p.Gly3167=)
c.12219A>T (p.Gly4073=)
c.12216A>T (p.Gly4072=)
c.12138A>T (p.Gly4046=)
c.12123A>T (p.Gly4041=)
c.5337A>T (p.Gly1779=)
c.5316A>T (p.Gly1772=)
n.12214A>T
5g.90763385delCA2674574480ADGRV1c.12201del (p.Gly4068GlufsTer9)
c.1155del (p.Gly386GlufsTer9)
c.265+87176del (n.265+87176del)
n.2620del
n.778del
n.12214del
c.12198del (p.Gly4067GlufsTer9)
c.12120del (p.Gly4041GlufsTer9)
c.9504del (p.Gly3169GlufsTer9)
c.12222del (p.Gly4075GlufsTer9)
c.12219del (p.Gly4074GlufsTer9)
c.12141del (p.Gly4048GlufsTer9)
c.12126del (p.Gly4043GlufsTer9)
c.5340del (p.Gly1781GlufsTer9)
c.5319del (p.Gly1774GlufsTer9)
n.12217del
 gnomAD v4
5g.90763383A>CCA360377904ADGRV1c.12199A>C (p.Lys4067Gln)
c.1153A>C (p.Lys385Gln)
c.265+87174A>C (n.265+87174A>C)
n.2618A>C
n.776A>C
n.12212A>C
c.12196A>C (p.Lys4066Gln)
c.12118A>C (p.Lys4040Gln)
c.9502A>C (p.Lys3168Gln)
c.12220A>C (p.Lys4074Gln)
c.12217A>C (p.Lys4073Gln)
c.12139A>C (p.Lys4047Gln)
c.12124A>C (p.Lys4042Gln)
c.5338A>C (p.Lys1780Gln)
c.5317A>C (p.Lys1773Gln)
n.12215A>C
5g.90763383A>GCA360377905ADGRV1c.12199A>G (p.Lys4067Glu)
c.1153A>G (p.Lys385Glu)
c.265+87174A>G (n.265+87174A>G)
n.2618A>G
n.776A>G
n.12212A>G
c.12196A>G (p.Lys4066Glu)
c.12118A>G (p.Lys4040Glu)
c.9502A>G (p.Lys3168Glu)
c.12220A>G (p.Lys4074Glu)
c.12217A>G (p.Lys4073Glu)
c.12139A>G (p.Lys4047Glu)
c.12124A>G (p.Lys4042Glu)
c.5338A>G (p.Lys1780Glu)
c.5317A>G (p.Lys1773Glu)
n.12215A>G
5g.90763383A>TCA360377906ADGRV1c.12199A>T (p.Lys4067Ter)
c.1153A>T (p.Lys385Ter)
c.265+87174A>T (n.265+87174A>T)
n.2618A>T
n.776A>T
n.12212A>T
c.12196A>T (p.Lys4066Ter)
c.12118A>T (p.Lys4040Ter)
c.9502A>T (p.Lys3168Ter)
c.12220A>T (p.Lys4074Ter)
c.12217A>T (p.Lys4073Ter)
c.12139A>T (p.Lys4047Ter)
c.12124A>T (p.Lys4042Ter)
c.5338A>T (p.Lys1780Ter)
c.5317A>T (p.Lys1773Ter)
n.12215A>T
5g.90763384A>CCA360377913ADGRV1c.12200A>C (p.Lys4067Thr)
c.1154A>C (p.Lys385Thr)
c.265+87175A>C (n.265+87175A>C)
n.2619A>C
n.777A>C
n.12213A>C
c.12197A>C (p.Lys4066Thr)
c.12119A>C (p.Lys4040Thr)
c.9503A>C (p.Lys3168Thr)
c.12221A>C (p.Lys4074Thr)
c.12218A>C (p.Lys4073Thr)
c.12140A>C (p.Lys4047Thr)
c.12125A>C (p.Lys4042Thr)
c.5339A>C (p.Lys1780Thr)
c.5318A>C (p.Lys1773Thr)
n.12216A>C
5g.90763384A>GCA360377914ADGRV1c.12200A>G (p.Lys4067Arg)
c.1154A>G (p.Lys385Arg)
c.265+87175A>G (n.265+87175A>G)
n.2619A>G
n.777A>G
n.12213A>G
c.12197A>G (p.Lys4066Arg)
c.12119A>G (p.Lys4040Arg)
c.9503A>G (p.Lys3168Arg)
c.12221A>G (p.Lys4074Arg)
c.12218A>G (p.Lys4073Arg)
c.12140A>G (p.Lys4047Arg)
c.12125A>G (p.Lys4042Arg)
c.5339A>G (p.Lys1780Arg)
c.5318A>G (p.Lys1773Arg)
n.12216A>G
5g.90763384A>TCA360377915ADGRV1c.12200A>T (p.Lys4067Ile)
c.1154A>T (p.Lys385Ile)
c.265+87175A>T (n.265+87175A>T)
n.2619A>T
n.777A>T
n.12213A>T
c.12197A>T (p.Lys4066Ile)
c.12119A>T (p.Lys4040Ile)
c.9503A>T (p.Lys3168Ile)
c.12221A>T (p.Lys4074Ile)
c.12218A>T (p.Lys4073Ile)
c.12140A>T (p.Lys4047Ile)
c.12125A>T (p.Lys4042Ile)
c.5339A>T (p.Lys1780Ile)
c.5318A>T (p.Lys1773Ile)
n.12216A>T
5g.90763385A>CCA360377917ADGRV1c.12201A>C (p.Lys4067Asn)
c.1155A>C (p.Lys385Asn)
c.265+87176A>C (n.265+87176A>C)
n.2620A>C
n.778A>C
n.12214A>C
c.12198A>C (p.Lys4066Asn)
c.12120A>C (p.Lys4040Asn)
c.9504A>C (p.Lys3168Asn)
c.12222A>C (p.Lys4074Asn)
c.12219A>C (p.Lys4073Asn)
c.12141A>C (p.Lys4047Asn)
c.12126A>C (p.Lys4042Asn)
c.5340A>C (p.Lys1780Asn)
c.5319A>C (p.Lys1773Asn)
n.12217A>C
 gnomAD v4
5g.90763385A>GCA445406652ADGRV1c.12201A>G (p.Lys4067=)
c.1155A>G (p.Lys385=)
c.265+87176A>G (n.265+87176A>G)
n.2620A>G
n.778A>G
n.12214A>G
c.12198A>G (p.Lys4066=)
c.12120A>G (p.Lys4040=)
c.9504A>G (p.Lys3168=)
c.12222A>G (p.Lys4074=)
c.12219A>G (p.Lys4073=)
c.12141A>G (p.Lys4047=)
c.12126A>G (p.Lys4042=)
c.5340A>G (p.Lys1780=)
c.5319A>G (p.Lys1773=)
n.12217A>G
5g.90763385A>TCA360377919ADGRV1c.12201A>T (p.Lys4067Asn)
c.1155A>T (p.Lys385Asn)
c.265+87176A>T (n.265+87176A>T)
n.2620A>T
n.778A>T
n.12214A>T
c.12198A>T (p.Lys4066Asn)
c.12120A>T (p.Lys4040Asn)
c.9504A>T (p.Lys3168Asn)
c.12222A>T (p.Lys4074Asn)
c.12219A>T (p.Lys4073Asn)
c.12141A>T (p.Lys4047Asn)
c.12126A>T (p.Lys4042Asn)
c.5340A>T (p.Lys1780Asn)
c.5319A>T (p.Lys1773Asn)
n.12217A>T
5g.90763386G>ACA3341174ADGRV1c.12202G>A (p.Gly4068Arg)
c.1156G>A (p.Gly386Arg)
c.265+87177G>A (n.265+87177G>A)
n.2621G>A
n.779G>A
n.12215G>A
c.12199G>A (p.Gly4067Arg)
c.12121G>A (p.Gly4041Arg)
c.9505G>A (p.Gly3169Arg)
c.12223G>A (p.Gly4075Arg)
c.12220G>A (p.Gly4074Arg)
c.12142G>A (p.Gly4048Arg)
c.12127G>A (p.Gly4043Arg)
c.5341G>A (p.Gly1781Arg)
c.5320G>A (p.Gly1774Arg)
n.12218G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763386G>CCA360377924ADGRV1c.12202G>C (p.Gly4068Arg)
c.1156G>C (p.Gly386Arg)
c.265+87177G>C (n.265+87177G>C)
n.2621G>C
n.779G>C
n.12215G>C
c.12199G>C (p.Gly4067Arg)
c.12121G>C (p.Gly4041Arg)
c.9505G>C (p.Gly3169Arg)
c.12223G>C (p.Gly4075Arg)
c.12220G>C (p.Gly4074Arg)
c.12142G>C (p.Gly4048Arg)
c.12127G>C (p.Gly4043Arg)
c.5341G>C (p.Gly1781Arg)
c.5320G>C (p.Gly1774Arg)
n.12218G>C
 dbSNP gnomAD v2 gnomAD v4
5g.90763386G=CA1562889897ADGRV1c.12202G= (p.Gly4068=)
c.1156G= (p.Gly386=)
c.265+87177G= (n.265+87177G=)
n.2621G=
n.779G=
n.12215G=
c.12199G= (p.Gly4067=)
c.12121G= (p.Gly4041=)
c.9505G= (p.Gly3169=)
c.12223G= (p.Gly4075=)
c.12220G= (p.Gly4074=)
c.12142G= (p.Gly4048=)
c.12127G= (p.Gly4043=)
c.5341G= (p.Gly1781=)
c.5320G= (p.Gly1774=)
n.12218G=
5g.90763386G>TCA360377927ADGRV1c.12202G>T (p.Gly4068Ter)
c.1156G>T (p.Gly386Ter)
c.265+87177G>T (n.265+87177G>T)
n.2621G>T
n.779G>T
n.12215G>T
c.12199G>T (p.Gly4067Ter)
c.12121G>T (p.Gly4041Ter)
c.9505G>T (p.Gly3169Ter)
c.12223G>T (p.Gly4075Ter)
c.12220G>T (p.Gly4074Ter)
c.12142G>T (p.Gly4048Ter)
c.12127G>T (p.Gly4043Ter)
c.5341G>T (p.Gly1781Ter)
c.5320G>T (p.Gly1774Ter)
n.12218G>T
5g.90763387delCA2578359791ADGRV1c.12203del (p.Gly4068GlufsTer9)
c.1157del (p.Gly386GlufsTer9)
c.265+87178del (n.265+87178del)
n.2622del
n.780del
n.12216del
c.12200del (p.Gly4067GlufsTer9)
c.12122del (p.Gly4041GlufsTer9)
c.9506del (p.Gly3169GlufsTer9)
c.12224del (p.Gly4075GlufsTer9)
c.12221del (p.Gly4074GlufsTer9)
c.12143del (p.Gly4048GlufsTer9)
c.12128del (p.Gly4043GlufsTer9)
c.5342del (p.Gly1781GlufsTer9)
c.5321del (p.Gly1774GlufsTer9)
n.12219del
5g.90763387G>ACA360377956ADGRV1c.12203G>A (p.Gly4068Glu)
c.1157G>A (p.Gly386Glu)
c.265+87178G>A (n.265+87178G>A)
n.2622G>A
n.780G>A
n.12216G>A
c.12200G>A (p.Gly4067Glu)
c.12122G>A (p.Gly4041Glu)
c.9506G>A (p.Gly3169Glu)
c.12224G>A (p.Gly4075Glu)
c.12221G>A (p.Gly4074Glu)
c.12143G>A (p.Gly4048Glu)
c.12128G>A (p.Gly4043Glu)
c.5342G>A (p.Gly1781Glu)
c.5321G>A (p.Gly1774Glu)
n.12219G>A
 dbSNP gnomAD v4
5g.90763387G>CCA360377961ADGRV1c.12203G>C (p.Gly4068Ala)
c.1157G>C (p.Gly386Ala)
c.265+87178G>C (n.265+87178G>C)
n.2622G>C
n.780G>C
n.12216G>C
c.12200G>C (p.Gly4067Ala)
c.12122G>C (p.Gly4041Ala)
c.9506G>C (p.Gly3169Ala)
c.12224G>C (p.Gly4075Ala)
c.12221G>C (p.Gly4074Ala)
c.12143G>C (p.Gly4048Ala)
c.12128G>C (p.Gly4043Ala)
c.5342G>C (p.Gly1781Ala)
c.5321G>C (p.Gly1774Ala)
n.12219G>C
5g.90763387G=CA1562889898ADGRV1c.12203G= (p.Gly4068=)
c.1157G= (p.Gly386=)
c.265+87178G= (n.265+87178G=)
n.2622G=
n.780G=
n.12216G=
c.12200G= (p.Gly4067=)
c.12122G= (p.Gly4041=)
c.9506G= (p.Gly3169=)
c.12224G= (p.Gly4075=)
c.12221G= (p.Gly4074=)
c.12143G= (p.Gly4048=)
c.12128G= (p.Gly4043=)
c.5342G= (p.Gly1781=)
c.5321G= (p.Gly1774=)
n.12219G=
5g.90763387G>TCA360377944ADGRV1c.12203G>T (p.Gly4068Val)
c.1157G>T (p.Gly386Val)
c.265+87178G>T (n.265+87178G>T)
n.2622G>T
n.780G>T
n.12216G>T
c.12200G>T (p.Gly4067Val)
c.12122G>T (p.Gly4041Val)
c.9506G>T (p.Gly3169Val)
c.12224G>T (p.Gly4075Val)
c.12221G>T (p.Gly4074Val)
c.12143G>T (p.Gly4048Val)
c.12128G>T (p.Gly4043Val)
c.5342G>T (p.Gly1781Val)
c.5321G>T (p.Gly1774Val)
n.12219G>T
5g.90763388A=CA1562889899ADGRV1c.12204A= (p.Gly4068=)
c.1158A= (p.Gly386=)
c.265+87179A= (n.265+87179A=)
n.2623A=
n.781A=
n.12217A=
c.12201A= (p.Gly4067=)
c.12123A= (p.Gly4041=)
c.9507A= (p.Gly3169=)
c.12225A= (p.Gly4075=)
c.12222A= (p.Gly4074=)
c.12144A= (p.Gly4048=)
c.12129A= (p.Gly4043=)
c.5343A= (p.Gly1781=)
c.5322A= (p.Gly1774=)
n.12220A=
5g.90763388A>CCA445406666ADGRV1c.12204A>C (p.Gly4068=)
c.1158A>C (p.Gly386=)
c.265+87179A>C (n.265+87179A>C)
n.2623A>C
n.781A>C
n.12217A>C
c.12201A>C (p.Gly4067=)
c.12123A>C (p.Gly4041=)
c.9507A>C (p.Gly3169=)
c.12225A>C (p.Gly4075=)
c.12222A>C (p.Gly4074=)
c.12144A>C (p.Gly4048=)
c.12129A>C (p.Gly4043=)
c.5343A>C (p.Gly1781=)
c.5322A>C (p.Gly1774=)
n.12220A>C
5g.90763388A>GCA445406673ADGRV1c.12204A>G (p.Gly4068=)
c.1158A>G (p.Gly386=)
c.265+87179A>G (n.265+87179A>G)
n.2623A>G
n.781A>G
n.12217A>G
c.12201A>G (p.Gly4067=)
c.12123A>G (p.Gly4041=)
c.9507A>G (p.Gly3169=)
c.12225A>G (p.Gly4075=)
c.12222A>G (p.Gly4074=)
c.12144A>G (p.Gly4048=)
c.12129A>G (p.Gly4043=)
c.5343A>G (p.Gly1781=)
c.5322A>G (p.Gly1774=)
n.12220A>G
 dbSNP
5g.90763388A>TCA445406680ADGRV1c.12204A>T (p.Gly4068=)
c.1158A>T (p.Gly386=)
c.265+87179A>T (n.265+87179A>T)
n.2623A>T
n.781A>T
n.12217A>T
c.12201A>T (p.Gly4067=)
c.12123A>T (p.Gly4041=)
c.9507A>T (p.Gly3169=)
c.12225A>T (p.Gly4075=)
c.12222A>T (p.Gly4074=)
c.12144A>T (p.Gly4048=)
c.12129A>T (p.Gly4043=)
c.5343A>T (p.Gly1781=)
c.5322A>T (p.Gly1774=)
n.12220A>T
5g.90763389A>CCA360377970ADGRV1c.12205A>C (p.Thr4069Pro)
c.1159A>C (p.Thr387Pro)
c.265+87180A>C (n.265+87180A>C)
n.2624A>C
n.782A>C
n.12218A>C
c.12202A>C (p.Thr4068Pro)
c.12124A>C (p.Thr4042Pro)
c.9508A>C (p.Thr3170Pro)
c.12226A>C (p.Thr4076Pro)
c.12223A>C (p.Thr4075Pro)
c.12145A>C (p.Thr4049Pro)
c.12130A>C (p.Thr4044Pro)
c.5344A>C (p.Thr1782Pro)
c.5323A>C (p.Thr1775Pro)
n.12221A>C
5g.90763389A>GCA360377976ADGRV1c.12205A>G (p.Thr4069Ala)
c.1159A>G (p.Thr387Ala)
c.265+87180A>G (n.265+87180A>G)
n.2624A>G
n.782A>G
n.12218A>G
c.12202A>G (p.Thr4068Ala)
c.12124A>G (p.Thr4042Ala)
c.9508A>G (p.Thr3170Ala)
c.12226A>G (p.Thr4076Ala)
c.12223A>G (p.Thr4075Ala)
c.12145A>G (p.Thr4049Ala)
c.12130A>G (p.Thr4044Ala)
c.5344A>G (p.Thr1782Ala)
c.5323A>G (p.Thr1775Ala)
n.12221A>G
 dbSNP gnomAD v3 gnomAD v4
5g.90763389A>TCA360377991ADGRV1c.12205A>T (p.Thr4069Ser)
c.1159A>T (p.Thr387Ser)
c.265+87180A>T (n.265+87180A>T)
n.2624A>T
n.782A>T
n.12218A>T
c.12202A>T (p.Thr4068Ser)
c.12124A>T (p.Thr4042Ser)
c.9508A>T (p.Thr3170Ser)
c.12226A>T (p.Thr4076Ser)
c.12223A>T (p.Thr4075Ser)
c.12145A>T (p.Thr4049Ser)
c.12130A>T (p.Thr4044Ser)
c.5344A>T (p.Thr1782Ser)
c.5323A>T (p.Thr1775Ser)
n.12221A>T
5g.90763390C>ACA360378029ADGRV1c.12206C>A (p.Thr4069Asn)
c.1160C>A (p.Thr387Asn)
c.265+87181C>A (n.265+87181C>A)
n.2625C>A
n.783C>A
n.12219C>A
c.12203C>A (p.Thr4068Asn)
c.12125C>A (p.Thr4042Asn)
c.9509C>A (p.Thr3170Asn)
c.12227C>A (p.Thr4076Asn)
c.12224C>A (p.Thr4075Asn)
c.12146C>A (p.Thr4049Asn)
c.12131C>A (p.Thr4044Asn)
c.5345C>A (p.Thr1782Asn)
c.5324C>A (p.Thr1775Asn)
n.12222C>A
5g.90763390C>GCA360378033ADGRV1c.12206C>G (p.Thr4069Ser)
c.1160C>G (p.Thr387Ser)
c.265+87181C>G (n.265+87181C>G)
n.2625C>G
n.783C>G
n.12219C>G
c.12203C>G (p.Thr4068Ser)
c.12125C>G (p.Thr4042Ser)
c.9509C>G (p.Thr3170Ser)
c.12227C>G (p.Thr4076Ser)
c.12224C>G (p.Thr4075Ser)
c.12146C>G (p.Thr4049Ser)
c.12131C>G (p.Thr4044Ser)
c.5345C>G (p.Thr1782Ser)
c.5324C>G (p.Thr1775Ser)
n.12222C>G
5g.90763390C>TCA360378036ADGRV1c.12206C>T (p.Thr4069Ile)
c.1160C>T (p.Thr387Ile)
c.265+87181C>T (n.265+87181C>T)
n.2625C>T
n.783C>T
n.12219C>T
c.12203C>T (p.Thr4068Ile)
c.12125C>T (p.Thr4042Ile)
c.9509C>T (p.Thr3170Ile)
c.12227C>T (p.Thr4076Ile)
c.12224C>T (p.Thr4075Ile)
c.12146C>T (p.Thr4049Ile)
c.12131C>T (p.Thr4044Ile)
c.5345C>T (p.Thr1782Ile)
c.5324C>T (p.Thr1775Ile)
n.12222C>T
5g.90763391C>ACA445406706ADGRV1c.12207C>A (p.Thr4069=)
c.1161C>A (p.Thr387=)
c.265+87182C>A (n.265+87182C>A)
n.2626C>A
n.784C>A
n.12220C>A
c.12204C>A (p.Thr4068=)
c.12126C>A (p.Thr4042=)
c.9510C>A (p.Thr3170=)
c.12228C>A (p.Thr4076=)
c.12225C>A (p.Thr4075=)
c.12147C>A (p.Thr4049=)
c.12132C>A (p.Thr4044=)
c.5346C>A (p.Thr1782=)
c.5325C>A (p.Thr1775=)
n.12223C>A
5g.90763391C=CA1562889900ADGRV1c.12207C= (p.Thr4069=)
c.1161C= (p.Thr387=)
c.265+87182C= (n.265+87182C=)
n.2626C=
n.784C=
n.12220C=
c.12204C= (p.Thr4068=)
c.12126C= (p.Thr4042=)
c.9510C= (p.Thr3170=)
c.12228C= (p.Thr4076=)
c.12225C= (p.Thr4075=)
c.12147C= (p.Thr4049=)
c.12132C= (p.Thr4044=)
c.5346C= (p.Thr1782=)
c.5325C= (p.Thr1775=)
n.12223C=
5g.90763391C>GCA445406707ADGRV1c.12207C>G (p.Thr4069=)
c.1161C>G (p.Thr387=)
c.265+87182C>G (n.265+87182C>G)
n.2626C>G
n.784C>G
n.12220C>G
c.12204C>G (p.Thr4068=)
c.12126C>G (p.Thr4042=)
c.9510C>G (p.Thr3170=)
c.12228C>G (p.Thr4076=)
c.12225C>G (p.Thr4075=)
c.12147C>G (p.Thr4049=)
c.12132C>G (p.Thr4044=)
c.5346C>G (p.Thr1782=)
c.5325C>G (p.Thr1775=)
n.12223C>G
 dbSNP gnomAD v4
5g.90763391C>TCA176225ADGRV1c.12207C>T (p.Thr4069=)
c.1161C>T (p.Thr387=)
c.265+87182C>T (n.265+87182C>T)
n.2626C>T
n.784C>T
n.12220C>T
c.12204C>T (p.Thr4068=)
c.12126C>T (p.Thr4042=)
c.9510C>T (p.Thr3170=)
c.12228C>T (p.Thr4076=)
c.12225C>T (p.Thr4075=)
c.12147C>T (p.Thr4049=)
c.12132C>T (p.Thr4044=)
c.5346C>T (p.Thr1782=)
c.5325C>T (p.Thr1775=)
n.12223C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763392G>ACA246506ADGRV1c.12208G>A (p.Val4070Ile)
c.1162G>A (p.Val388Ile)
c.265+87183G>A (n.265+87183G>A)
n.2627G>A
n.785G>A
n.12221G>A
c.12205G>A (p.Val4069Ile)
c.12127G>A (p.Val4043Ile)
c.9511G>A (p.Val3171Ile)
c.12229G>A (p.Val4077Ile)
c.12226G>A (p.Val4076Ile)
c.12148G>A (p.Val4050Ile)
c.12133G>A (p.Val4045Ile)
c.5347G>A (p.Val1783Ile)
c.5326G>A (p.Val1776Ile)
n.12224G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90763392G>CCA360378042ADGRV1c.12208G>C (p.Val4070Leu)
c.1162G>C (p.Val388Leu)
c.265+87183G>C (n.265+87183G>C)
n.2627G>C
n.785G>C
n.12221G>C
c.12205G>C (p.Val4069Leu)
c.12127G>C (p.Val4043Leu)
c.9511G>C (p.Val3171Leu)
c.12229G>C (p.Val4077Leu)
c.12226G>C (p.Val4076Leu)
c.12148G>C (p.Val4050Leu)
c.12133G>C (p.Val4045Leu)
c.5347G>C (p.Val1783Leu)
c.5326G>C (p.Val1776Leu)
n.12224G>C
5g.90763392G=CA1562889901ADGRV1c.12208G= (p.Val4070=)
c.1162G= (p.Val388=)
c.265+87183G= (n.265+87183G=)
n.2627G=
n.785G=
n.12221G=
c.12205G= (p.Val4069=)
c.12127G= (p.Val4043=)
c.9511G= (p.Val3171=)
c.12229G= (p.Val4077=)
c.12226G= (p.Val4076=)
c.12148G= (p.Val4050=)
c.12133G= (p.Val4045=)
c.5347G= (p.Val1783=)
c.5326G= (p.Val1776=)
n.12224G=
5g.90763392G>TCA360378049ADGRV1c.12208G>T (p.Val4070Phe)
c.1162G>T (p.Val388Phe)
c.265+87183G>T (n.265+87183G>T)
n.2627G>T
n.785G>T
n.12221G>T
c.12205G>T (p.Val4069Phe)
c.12127G>T (p.Val4043Phe)
c.9511G>T (p.Val3171Phe)
c.12229G>T (p.Val4077Phe)
c.12226G>T (p.Val4076Phe)
c.12148G>T (p.Val4050Phe)
c.12133G>T (p.Val4045Phe)
c.5347G>T (p.Val1783Phe)
c.5326G>T (p.Val1776Phe)
n.12224G>T
 dbSNP gnomAD v4
5g.90763393T>ACA360378052ADGRV1c.12209T>A (p.Val4070Asp)
c.1163T>A (p.Val388Asp)
c.265+87184T>A (n.265+87184T>A)
n.2628T>A
n.786T>A
n.12222T>A
c.12206T>A (p.Val4069Asp)
c.12128T>A (p.Val4043Asp)
c.9512T>A (p.Val3171Asp)
c.12230T>A (p.Val4077Asp)
c.12227T>A (p.Val4076Asp)
c.12149T>A (p.Val4050Asp)
c.12134T>A (p.Val4045Asp)
c.5348T>A (p.Val1783Asp)
c.5327T>A (p.Val1776Asp)
n.12225T>A
 gnomAD v4
5g.90763393T>CCA360378054ADGRV1c.12209T>C (p.Val4070Ala)
c.1163T>C (p.Val388Ala)
c.265+87184T>C (n.265+87184T>C)
n.2628T>C
n.786T>C
n.12222T>C
c.12206T>C (p.Val4069Ala)
c.12128T>C (p.Val4043Ala)
c.9512T>C (p.Val3171Ala)
c.12230T>C (p.Val4077Ala)
c.12227T>C (p.Val4076Ala)
c.12149T>C (p.Val4050Ala)
c.12134T>C (p.Val4045Ala)
c.5348T>C (p.Val1783Ala)
c.5327T>C (p.Val1776Ala)
n.12225T>C
 gnomAD v4
5g.90763393T>GCA360378058ADGRV1c.12209T>G (p.Val4070Gly)
c.1163T>G (p.Val388Gly)
c.265+87184T>G (n.265+87184T>G)
n.2628T>G
n.786T>G
n.12222T>G
c.12206T>G (p.Val4069Gly)
c.12128T>G (p.Val4043Gly)
c.9512T>G (p.Val3171Gly)
c.12230T>G (p.Val4077Gly)
c.12227T>G (p.Val4076Gly)
c.12149T>G (p.Val4050Gly)
c.12134T>G (p.Val4045Gly)
c.5348T>G (p.Val1783Gly)
c.5327T>G (p.Val1776Gly)
n.12225T>G
5g.90763393dupCA561260037ADGRV1c.12209dup (p.Arg4071ProfsTer3)
c.1163dup (p.Arg389ProfsTer3)
c.265+87184dup (n.265+87184dup)
n.2628dup
n.786dup
n.12222dup
c.12206dup (p.Arg4070ProfsTer3)
c.12128dup (p.Arg4044ProfsTer3)
c.9512dup (p.Arg3172ProfsTer3)
c.12230dup (p.Arg4078ProfsTer3)
c.12227dup (p.Arg4077ProfsTer3)
c.12149dup (p.Arg4051ProfsTer3)
c.12134dup (p.Arg4046ProfsTer3)
c.5348dup (p.Arg1784ProfsTer3)
c.5327dup (p.Arg1777ProfsTer3)
n.12225dup
 dbSNP gnomAD v2 gnomAD v4
5g.90763393_90763394delinsTCCA1562889902ADGRV1c.12209_12210delinsTC (p.Val4070=)
c.1163_1164delinsTC (p.Val388=)
c.265+87184_265+87185delinsTC (n.265+87184_265+87185delinsTC)
n.2628_2629delinsTC
n.786_787delinsTC
n.12222_12223delinsTC
c.12206_12207delinsTC (p.Val4069=)
c.12128_12129delinsTC (p.Val4043=)
c.9512_9513delinsTC (p.Val3171=)
c.12230_12231delinsTC (p.Val4077=)
c.12227_12228delinsTC (p.Val4076=)
c.12149_12150delinsTC (p.Val4050=)
c.12134_12135delinsTC (p.Val4045=)
c.5348_5349delinsTC (p.Val1783=)
c.5327_5328delinsTC (p.Val1776=)
n.12225_12226delinsTC
5g.90763394C>ACA445406726ADGRV1c.12210C>A (p.Val4070=)
c.1164C>A (p.Val388=)
c.265+87185C>A (n.265+87185C>A)
n.2629C>A
n.787C>A
n.12223C>A
c.12207C>A (p.Val4069=)
c.12129C>A (p.Val4043=)
c.9513C>A (p.Val3171=)
c.12231C>A (p.Val4077=)
c.12228C>A (p.Val4076=)
c.12150C>A (p.Val4050=)
c.12135C>A (p.Val4045=)
c.5349C>A (p.Val1783=)
c.5328C>A (p.Val1776=)
n.12226C>A
5g.90763394C>GCA445406727ADGRV1c.12210C>G (p.Val4070=)
c.1164C>G (p.Val388=)
c.265+87185C>G (n.265+87185C>G)
n.2629C>G
n.787C>G
n.12223C>G
c.12207C>G (p.Val4069=)
c.12129C>G (p.Val4043=)
c.9513C>G (p.Val3171=)
c.12231C>G (p.Val4077=)
c.12228C>G (p.Val4076=)
c.12150C>G (p.Val4050=)
c.12135C>G (p.Val4045=)
c.5349C>G (p.Val1783=)
c.5328C>G (p.Val1776=)
n.12226C>G
5g.90763394C>TCA445406728ADGRV1c.12210C>T (p.Val4070=)
c.1164C>T (p.Val388=)
c.265+87185C>T (n.265+87185C>T)
n.2629C>T
n.787C>T
n.12223C>T
c.12207C>T (p.Val4069=)
c.12129C>T (p.Val4043=)
c.9513C>T (p.Val3171=)
c.12231C>T (p.Val4077=)
c.12228C>T (p.Val4076=)
c.12150C>T (p.Val4050=)
c.12135C>T (p.Val4045=)
c.5349C>T (p.Val1783=)
c.5328C>T (p.Val1776=)
n.12226C>T
 gnomAD v4 COSMIC
5g.90763395delCA1562889903ADGRV1c.12211del (p.Arg4071AspfsTer6)
c.1165del (p.Arg389AspfsTer6)
c.265+87186del (n.265+87186del)
n.2630del
n.788del
n.12224del
c.12208del (p.Arg4070AspfsTer6)
c.12130del (p.Arg4044AspfsTer6)
c.9514del (p.Arg3172AspfsTer6)
c.12232del (p.Arg4078AspfsTer6)
c.12229del (p.Arg4077AspfsTer6)
c.12151del (p.Arg4051AspfsTer6)
c.12136del (p.Arg4046AspfsTer6)
c.5350del (p.Arg1784AspfsTer6)
c.5329del (p.Arg1777AspfsTer6)
n.12227del
 ClinVar dbSNP
5g.90763395C>ACA445406731ADGRV1c.12211C>A (p.Arg4071=)
c.1165C>A (p.Arg389=)
c.265+87186C>A (n.265+87186C>A)
n.2630C>A
n.788C>A
n.12224C>A
c.12208C>A (p.Arg4070=)
c.12130C>A (p.Arg4044=)
c.9514C>A (p.Arg3172=)
c.12232C>A (p.Arg4078=)
c.12229C>A (p.Arg4077=)
c.12151C>A (p.Arg4051=)
c.12136C>A (p.Arg4046=)
c.5350C>A (p.Arg1784=)
c.5329C>A (p.Arg1777=)
n.12227C>A
5g.90763395C=CA1562889904ADGRV1c.12211C= (p.Arg4071=)
c.1165C= (p.Arg389=)
c.265+87186C= (n.265+87186C=)
n.2630C=
n.788C=
n.12224C=
c.12208C= (p.Arg4070=)
c.12130C= (p.Arg4044=)
c.9514C= (p.Arg3172=)
c.12232C= (p.Arg4078=)
c.12229C= (p.Arg4077=)
c.12151C= (p.Arg4051=)
c.12136C= (p.Arg4046=)
c.5350C= (p.Arg1784=)
c.5329C= (p.Arg1777=)
n.12227C=
5g.90763395C>GCA360378084ADGRV1c.12211C>G (p.Arg4071Gly)
c.1165C>G (p.Arg389Gly)
c.265+87186C>G (n.265+87186C>G)
n.2630C>G
n.788C>G
n.12224C>G
c.12208C>G (p.Arg4070Gly)
c.12130C>G (p.Arg4044Gly)
c.9514C>G (p.Arg3172Gly)
c.12232C>G (p.Arg4078Gly)
c.12229C>G (p.Arg4077Gly)
c.12151C>G (p.Arg4051Gly)
c.12136C>G (p.Arg4046Gly)
c.5350C>G (p.Arg1784Gly)
c.5329C>G (p.Arg1777Gly)
n.12227C>G
5g.90763395C>TCA360378075ADGRV1c.12211C>T (p.Arg4071Ter)
c.1165C>T (p.Arg389Ter)
c.265+87186C>T (n.265+87186C>T)
n.2630C>T
n.788C>T
n.12224C>T
c.12208C>T (p.Arg4070Ter)
c.12130C>T (p.Arg4044Ter)
c.9514C>T (p.Arg3172Ter)
c.12232C>T (p.Arg4078Ter)
c.12229C>T (p.Arg4077Ter)
c.12151C>T (p.Arg4051Ter)
c.12136C>T (p.Arg4046Ter)
c.5350C>T (p.Arg1784Ter)
c.5329C>T (p.Arg1777Ter)
n.12227C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.90763396G>ACA182191ADGRV1c.12212G>A (p.Arg4071Gln)
c.1166G>A (p.Arg389Gln)
c.265+87187G>A (n.265+87187G>A)
n.2631G>A
n.789G>A
n.12225G>A
c.12209G>A (p.Arg4070Gln)
c.12131G>A (p.Arg4044Gln)
c.9515G>A (p.Arg3172Gln)
c.12233G>A (p.Arg4078Gln)
c.12230G>A (p.Arg4077Gln)
c.12152G>A (p.Arg4051Gln)
c.12137G>A (p.Arg4046Gln)
c.5351G>A (p.Arg1784Gln)
c.5330G>A (p.Arg1777Gln)
n.12228G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90763396G>CCA360378097ADGRV1c.12212G>C (p.Arg4071Pro)
c.1166G>C (p.Arg389Pro)
c.265+87187G>C (n.265+87187G>C)
n.2631G>C
n.789G>C
n.12225G>C
c.12209G>C (p.Arg4070Pro)
c.12131G>C (p.Arg4044Pro)
c.9515G>C (p.Arg3172Pro)
c.12233G>C (p.Arg4078Pro)
c.12230G>C (p.Arg4077Pro)
c.12152G>C (p.Arg4051Pro)
c.12137G>C (p.Arg4046Pro)
c.5351G>C (p.Arg1784Pro)
c.5330G>C (p.Arg1777Pro)
n.12228G>C
5g.90763396G=CA1562889905ADGRV1c.12212G= (p.Arg4071=)
c.1166G= (p.Arg389=)
c.265+87187G= (n.265+87187G=)
n.2631G=
n.789G=
n.12225G=
c.12209G= (p.Arg4070=)
c.12131G= (p.Arg4044=)
c.9515G= (p.Arg3172=)
c.12233G= (p.Arg4078=)
c.12230G= (p.Arg4077=)
c.12152G= (p.Arg4051=)
c.12137G= (p.Arg4046=)
c.5351G= (p.Arg1784=)
c.5330G= (p.Arg1777=)
n.12228G=
5g.90763396G>TCA360378102ADGRV1c.12212G>T (p.Arg4071Leu)
c.1166G>T (p.Arg389Leu)
c.265+87187G>T (n.265+87187G>T)
n.2631G>T
n.789G>T
n.12225G>T
c.12209G>T (p.Arg4070Leu)
c.12131G>T (p.Arg4044Leu)
c.9515G>T (p.Arg3172Leu)
c.12233G>T (p.Arg4078Leu)
c.12230G>T (p.Arg4077Leu)
c.12152G>T (p.Arg4051Leu)
c.12137G>T (p.Arg4046Leu)
c.5351G>T (p.Arg1784Leu)
c.5330G>T (p.Arg1777Leu)
n.12228G>T
 gnomAD v4
5g.90763397A>CCA445406746ADGRV1c.12213A>C (p.Arg4071=)
c.1167A>C (p.Arg389=)
c.265+87188A>C (n.265+87188A>C)
n.2632A>C
n.790A>C
n.12226A>C
c.12210A>C (p.Arg4070=)
c.12132A>C (p.Arg4044=)
c.9516A>C (p.Arg3172=)
c.12234A>C (p.Arg4078=)
c.12231A>C (p.Arg4077=)
c.12153A>C (p.Arg4051=)
c.12138A>C (p.Arg4046=)
c.5352A>C (p.Arg1784=)
c.5331A>C (p.Arg1777=)
n.12229A>C
5g.90763397A>GCA445406748ADGRV1c.12213A>G (p.Arg4071=)
c.1167A>G (p.Arg389=)
c.265+87188A>G (n.265+87188A>G)
n.2632A>G
n.790A>G
n.12226A>G
c.12210A>G (p.Arg4070=)
c.12132A>G (p.Arg4044=)
c.9516A>G (p.Arg3172=)
c.12234A>G (p.Arg4078=)
c.12231A>G (p.Arg4077=)
c.12153A>G (p.Arg4051=)
c.12138A>G (p.Arg4046=)
c.5352A>G (p.Arg1784=)
c.5331A>G (p.Arg1777=)
n.12229A>G
 gnomAD v4
5g.90763397A>TCA445406747ADGRV1c.12213A>T (p.Arg4071=)
c.1167A>T (p.Arg389=)
c.265+87188A>T (n.265+87188A>T)
n.2632A>T
n.790A>T
n.12226A>T
c.12210A>T (p.Arg4070=)
c.12132A>T (p.Arg4044=)
c.9516A>T (p.Arg3172=)
c.12234A>T (p.Arg4078=)
c.12231A>T (p.Arg4077=)
c.12153A>T (p.Arg4051=)
c.12138A>T (p.Arg4046=)
c.5352A>T (p.Arg1784=)
c.5331A>T (p.Arg1777=)
n.12229A>T
5g.90763398C>ACA360378107ADGRV1c.12214C>A (p.Leu4072Ile)
c.1168C>A (p.Leu390Ile)
c.265+87189C>A (n.265+87189C>A)
n.2633C>A
n.791C>A
n.12227C>A
c.12211C>A (p.Leu4071Ile)
c.12133C>A (p.Leu4045Ile)
c.9517C>A (p.Leu3173Ile)
c.12235C>A (p.Leu4079Ile)
c.12232C>A (p.Leu4078Ile)
c.12154C>A (p.Leu4052Ile)
c.12139C>A (p.Leu4047Ile)
c.5353C>A (p.Leu1785Ile)
c.5332C>A (p.Leu1778Ile)
n.12230C>A
5g.90763398C=CA1562889906ADGRV1c.12214C= (p.Leu4072=)
c.1168C= (p.Leu390=)
c.265+87189C= (n.265+87189C=)
n.2633C=
n.791C=
n.12227C=
c.12211C= (p.Leu4071=)
c.12133C= (p.Leu4045=)
c.9517C= (p.Leu3173=)
c.12235C= (p.Leu4079=)
c.12232C= (p.Leu4078=)
c.12154C= (p.Leu4052=)
c.12139C= (p.Leu4047=)
c.5353C= (p.Leu1785=)
c.5332C= (p.Leu1778=)
n.12230C=
5g.90763398C>GCA360378108ADGRV1c.12214C>G (p.Leu4072Val)
c.1168C>G (p.Leu390Val)
c.265+87189C>G (n.265+87189C>G)
n.2633C>G
n.791C>G
n.12227C>G
c.12211C>G (p.Leu4071Val)
c.12133C>G (p.Leu4045Val)
c.9517C>G (p.Leu3173Val)
c.12235C>G (p.Leu4079Val)
c.12232C>G (p.Leu4078Val)
c.12154C>G (p.Leu4052Val)
c.12139C>G (p.Leu4047Val)
c.5353C>G (p.Leu1785Val)
c.5332C>G (p.Leu1778Val)
n.12230C>G
 dbSNP gnomAD v2 gnomAD v4
5g.90763398C>TCA360378109ADGRV1c.12214C>T (p.Leu4072Phe)
c.1168C>T (p.Leu390Phe)
c.265+87189C>T (n.265+87189C>T)
n.2633C>T
n.791C>T
n.12227C>T
c.12211C>T (p.Leu4071Phe)
c.12133C>T (p.Leu4045Phe)
c.9517C>T (p.Leu3173Phe)
c.12235C>T (p.Leu4079Phe)
c.12232C>T (p.Leu4078Phe)
c.12154C>T (p.Leu4052Phe)
c.12139C>T (p.Leu4047Phe)
c.5353C>T (p.Leu1785Phe)
c.5332C>T (p.Leu1778Phe)
n.12230C>T
5g.90763399T>ACA360378110ADGRV1c.12215T>A (p.Leu4072His)
c.1169T>A (p.Leu390His)
c.265+87190T>A (n.265+87190T>A)
n.2634T>A
n.792T>A
n.12228T>A
c.12212T>A (p.Leu4071His)
c.12134T>A (p.Leu4045His)
c.9518T>A (p.Leu3173His)
c.12236T>A (p.Leu4079His)
c.12233T>A (p.Leu4078His)
c.12155T>A (p.Leu4052His)
c.12140T>A (p.Leu4047His)
c.5354T>A (p.Leu1785His)
c.5333T>A (p.Leu1778His)
n.12231T>A
5g.90763399T>CCA360378112ADGRV1c.12215T>C (p.Leu4072Pro)
c.1169T>C (p.Leu390Pro)
c.265+87190T>C (n.265+87190T>C)
n.2634T>C
n.792T>C
n.12228T>C
c.12212T>C (p.Leu4071Pro)
c.12134T>C (p.Leu4045Pro)
c.9518T>C (p.Leu3173Pro)
c.12236T>C (p.Leu4079Pro)
c.12233T>C (p.Leu4078Pro)
c.12155T>C (p.Leu4052Pro)
c.12140T>C (p.Leu4047Pro)
c.5354T>C (p.Leu1785Pro)
c.5333T>C (p.Leu1778Pro)
n.12231T>C
5g.90763399T>GCA360378114ADGRV1c.12215T>G (p.Leu4072Arg)
c.1169T>G (p.Leu390Arg)
c.265+87190T>G (n.265+87190T>G)
n.2634T>G
n.792T>G
n.12228T>G
c.12212T>G (p.Leu4071Arg)
c.12134T>G (p.Leu4045Arg)
c.9518T>G (p.Leu3173Arg)
c.12236T>G (p.Leu4079Arg)
c.12233T>G (p.Leu4078Arg)
c.12155T>G (p.Leu4052Arg)
c.12140T>G (p.Leu4047Arg)
c.5354T>G (p.Leu1785Arg)
c.5333T>G (p.Leu1778Arg)
n.12231T>G
5g.90763400T>ACA445406763ADGRV1c.12216T>A (p.Leu4072=)
c.1170T>A (p.Leu390=)
c.265+87191T>A (n.265+87191T>A)
n.2635T>A
n.793T>A
n.12229T>A
c.12213T>A (p.Leu4071=)
c.12135T>A (p.Leu4045=)
c.9519T>A (p.Leu3173=)
c.12237T>A (p.Leu4079=)
c.12234T>A (p.Leu4078=)
c.12156T>A (p.Leu4052=)
c.12141T>A (p.Leu4047=)
c.5355T>A (p.Leu1785=)
c.5334T>A (p.Leu1778=)
n.12232T>A
5g.90763400T>CCA445406765ADGRV1c.12216T>C (p.Leu4072=)
c.1170T>C (p.Leu390=)
c.265+87191T>C (n.265+87191T>C)
n.2635T>C
n.793T>C
n.12229T>C
c.12213T>C (p.Leu4071=)
c.12135T>C (p.Leu4045=)
c.9519T>C (p.Leu3173=)
c.12237T>C (p.Leu4079=)
c.12234T>C (p.Leu4078=)
c.12156T>C (p.Leu4052=)
c.12141T>C (p.Leu4047=)
c.5355T>C (p.Leu1785=)
c.5334T>C (p.Leu1778=)
n.12232T>C
5g.90763400T>GCA445406770ADGRV1c.12216T>G (p.Leu4072=)
c.1170T>G (p.Leu390=)
c.265+87191T>G (n.265+87191T>G)
n.2635T>G
n.793T>G
n.12229T>G
c.12213T>G (p.Leu4071=)
c.12135T>G (p.Leu4045=)
c.9519T>G (p.Leu3173=)
c.12237T>G (p.Leu4079=)
c.12234T>G (p.Leu4078=)
c.12156T>G (p.Leu4052=)
c.12141T>G (p.Leu4047=)
c.5355T>G (p.Leu1785=)
c.5334T>G (p.Leu1778=)
n.12232T>G
5g.90763401delCA2674574501ADGRV1c.12217del (p.Glu4073SerfsTer4)
c.1171del (p.Glu391SerfsTer4)
c.265+87192del (n.265+87192del)
n.2636del
n.794del
n.12230del
c.12214del (p.Glu4072SerfsTer4)
c.12136del (p.Glu4046SerfsTer4)
c.9520del (p.Glu3174SerfsTer4)
c.12238del (p.Glu4080SerfsTer4)
c.12235del (p.Glu4079SerfsTer4)
c.12157del (p.Glu4053SerfsTer4)
c.12142del (p.Glu4048SerfsTer4)
c.5356del (p.Glu1786SerfsTer4)
c.5335del (p.Glu1779SerfsTer4)
n.12233del
 gnomAD v4
5g.90763401G>ACA360378116ADGRV1c.12217G>A (p.Glu4073Lys)
c.1171G>A (p.Glu391Lys)
c.265+87192G>A (n.265+87192G>A)
n.2636G>A
n.794G>A
n.12230G>A
c.12214G>A (p.Glu4072Lys)
c.12136G>A (p.Glu4046Lys)
c.9520G>A (p.Glu3174Lys)
c.12238G>A (p.Glu4080Lys)
c.12235G>A (p.Glu4079Lys)
c.12157G>A (p.Glu4053Lys)
c.12142G>A (p.Glu4048Lys)
c.5356G>A (p.Glu1786Lys)
c.5335G>A (p.Glu1779Lys)
n.12233G>A
5g.90763401G>CCA3341175ADGRV1c.12217G>C (p.Glu4073Gln)
c.1171G>C (p.Glu391Gln)
c.265+87192G>C (n.265+87192G>C)
n.2636G>C
n.794G>C
n.12230G>C
c.12214G>C (p.Glu4072Gln)
c.12136G>C (p.Glu4046Gln)
c.9520G>C (p.Glu3174Gln)
c.12238G>C (p.Glu4080Gln)
c.12235G>C (p.Glu4079Gln)
c.12157G>C (p.Glu4053Gln)
c.12142G>C (p.Glu4048Gln)
c.5356G>C (p.Glu1786Gln)
c.5335G>C (p.Glu1779Gln)
n.12233G>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.90763401G=CA1562889907ADGRV1c.12217G= (p.Glu4073=)
c.1171G= (p.Glu391=)
c.265+87192G= (n.265+87192G=)
n.2636G=
n.794G=
n.12230G=
c.12214G= (p.Glu4072=)
c.12136G= (p.Glu4046=)
c.9520G= (p.Glu3174=)
c.12238G= (p.Glu4080=)
c.12235G= (p.Glu4079=)
c.12157G= (p.Glu4053=)
c.12142G= (p.Glu4048=)
c.5356G= (p.Glu1786=)
c.5335G= (p.Glu1779=)
n.12233G=
5g.90763401G>TCA360378124ADGRV1c.12217G>T (p.Glu4073Ter)
c.1171G>T (p.Glu391Ter)
c.265+87192G>T (n.265+87192G>T)
n.2636G>T
n.794G>T
n.12230G>T
c.12214G>T (p.Glu4072Ter)
c.12136G>T (p.Glu4046Ter)
c.9520G>T (p.Glu3174Ter)
c.12238G>T (p.Glu4080Ter)
c.12235G>T (p.Glu4079Ter)
c.12157G>T (p.Glu4053Ter)
c.12142G>T (p.Glu4048Ter)
c.5356G>T (p.Glu1786Ter)
c.5335G>T (p.Glu1779Ter)
n.12233G>T
5g.90763402A>CCA360378132ADGRV1c.12218A>C (p.Glu4073Ala)
c.1172A>C (p.Glu391Ala)
c.265+87193A>C (n.265+87193A>C)
n.2637A>C
n.795A>C
n.12231A>C
c.12215A>C (p.Glu4072Ala)
c.12137A>C (p.Glu4046Ala)
c.9521A>C (p.Glu3174Ala)
c.12239A>C (p.Glu4080Ala)
c.12236A>C (p.Glu4079Ala)
c.12158A>C (p.Glu4053Ala)
c.12143A>C (p.Glu4048Ala)
c.5357A>C (p.Glu1786Ala)
c.5336A>C (p.Glu1779Ala)
n.12234A>C
5g.90763402A>GCA360378157ADGRV1c.12218A>G (p.Glu4073Gly)
c.1172A>G (p.Glu391Gly)
c.265+87193A>G (n.265+87193A>G)
n.2637A>G
n.795A>G
n.12231A>G
c.12215A>G (p.Glu4072Gly)
c.12137A>G (p.Glu4046Gly)
c.9521A>G (p.Glu3174Gly)
c.12239A>G (p.Glu4080Gly)
c.12236A>G (p.Glu4079Gly)
c.12158A>G (p.Glu4053Gly)
c.12143A>G (p.Glu4048Gly)
c.5357A>G (p.Glu1786Gly)
c.5336A>G (p.Glu1779Gly)
n.12234A>G
5g.90763402A>TCA360378149ADGRV1c.12218A>T (p.Glu4073Val)
c.1172A>T (p.Glu391Val)
c.265+87193A>T (n.265+87193A>T)
n.2637A>T
n.795A>T
n.12231A>T
c.12215A>T (p.Glu4072Val)
c.12137A>T (p.Glu4046Val)
c.9521A>T (p.Glu3174Val)
c.12239A>T (p.Glu4080Val)
c.12236A>T (p.Glu4079Val)
c.12158A>T (p.Glu4053Val)
c.12143A>T (p.Glu4048Val)
c.5357A>T (p.Glu1786Val)
c.5336A>T (p.Glu1779Val)
n.12234A>T
5g.90763403G>ACA445406794ADGRV1c.12219G>A (p.Glu4073=)
c.1173G>A (p.Glu391=)
c.265+87194G>A (n.265+87194G>A)
n.2638G>A
n.796G>A
n.12232G>A
c.12216G>A (p.Glu4072=)
c.12138G>A (p.Glu4046=)
c.9522G>A (p.Glu3174=)
c.12240G>A (p.Glu4080=)
c.12237G>A (p.Glu4079=)
c.12159G>A (p.Glu4053=)
c.12144G>A (p.Glu4048=)
c.5358G>A (p.Glu1786=)
c.5337G>A (p.Glu1779=)
n.12235G>A
 ClinVar
5g.90763403G>CCA360378158ADGRV1c.12219G>C (p.Glu4073Asp)
c.1173G>C (p.Glu391Asp)
c.265+87194G>C (n.265+87194G>C)
n.2638G>C
n.796G>C
n.12232G>C
c.12216G>C (p.Glu4072Asp)
c.12138G>C (p.Glu4046Asp)
c.9522G>C (p.Glu3174Asp)
c.12240G>C (p.Glu4080Asp)
c.12237G>C (p.Glu4079Asp)
c.12159G>C (p.Glu4053Asp)
c.12144G>C (p.Glu4048Asp)
c.5358G>C (p.Glu1786Asp)
c.5337G>C (p.Glu1779Asp)
n.12235G>C
5g.90763403G>TCA360378159ADGRV1c.12219G>T (p.Glu4073Asp)
c.1173G>T (p.Glu391Asp)
c.265+87194G>T (n.265+87194G>T)
n.2638G>T
n.796G>T
n.12232G>T
c.12216G>T (p.Glu4072Asp)
c.12138G>T (p.Glu4046Asp)
c.9522G>T (p.Glu3174Asp)
c.12240G>T (p.Glu4080Asp)
c.12237G>T (p.Glu4079Asp)
c.12159G>T (p.Glu4053Asp)
c.12144G>T (p.Glu4048Asp)
c.5358G>T (p.Glu1786Asp)
c.5337G>T (p.Glu1779Asp)
n.12235G>T
 dbSNP
5g.90763404T>ACA360378163ADGRV1c.12220T>A (p.Trp4074Arg)
c.1174T>A (p.Trp392Arg)
c.265+87195T>A (n.265+87195T>A)
n.2639T>A
n.797T>A
n.12233T>A
c.12217T>A (p.Trp4073Arg)
c.12139T>A (p.Trp4047Arg)
c.9523T>A (p.Trp3175Arg)
c.12241T>A (p.Trp4081Arg)
c.12238T>A (p.Trp4080Arg)
c.12160T>A (p.Trp4054Arg)
c.12145T>A (p.Trp4049Arg)
c.5359T>A (p.Trp1787Arg)
c.5338T>A (p.Trp1780Arg)
n.12236T>A
5g.90763404T>CCA360378167ADGRV1c.12220T>C (p.Trp4074Arg)
c.1174T>C (p.Trp392Arg)
c.265+87195T>C (n.265+87195T>C)
n.2639T>C
n.797T>C
n.12233T>C
c.12217T>C (p.Trp4073Arg)
c.12139T>C (p.Trp4047Arg)
c.9523T>C (p.Trp3175Arg)
c.12241T>C (p.Trp4081Arg)
c.12238T>C (p.Trp4080Arg)
c.12160T>C (p.Trp4054Arg)
c.12145T>C (p.Trp4049Arg)
c.5359T>C (p.Trp1787Arg)
c.5338T>C (p.Trp1780Arg)
n.12236T>C
 ClinVar dbSNP
5g.90763404T>GCA360378175ADGRV1c.12220T>G (p.Trp4074Gly)
c.1174T>G (p.Trp392Gly)
c.265+87195T>G (n.265+87195T>G)
n.2639T>G
n.797T>G
n.12233T>G
c.12217T>G (p.Trp4073Gly)
c.12139T>G (p.Trp4047Gly)
c.9523T>G (p.Trp3175Gly)
c.12241T>G (p.Trp4081Gly)
c.12238T>G (p.Trp4080Gly)
c.12160T>G (p.Trp4054Gly)
c.12145T>G (p.Trp4049Gly)
c.5359T>G (p.Trp1787Gly)
c.5338T>G (p.Trp1780Gly)
n.12236T>G
5g.90763405G>ACA360378184ADGRV1c.12221G>A (p.Trp4074Ter)
c.1175G>A (p.Trp392Ter)
c.265+87196G>A (n.265+87196G>A)
n.2640G>A
n.798G>A
n.12234G>A
c.12218G>A (p.Trp4073Ter)
c.12140G>A (p.Trp4047Ter)
c.9524G>A (p.Trp3175Ter)
c.12242G>A (p.Trp4081Ter)
c.12239G>A (p.Trp4080Ter)
c.12161G>A (p.Trp4054Ter)
c.12146G>A (p.Trp4049Ter)
c.5360G>A (p.Trp1787Ter)
c.5339G>A (p.Trp1780Ter)
n.12237G>A
5g.90763405G>CCA360378177ADGRV1c.12221G>C (p.Trp4074Ser)
c.1175G>C (p.Trp392Ser)
c.265+87196G>C (n.265+87196G>C)
n.2640G>C
n.798G>C
n.12234G>C
c.12218G>C (p.Trp4073Ser)
c.12140G>C (p.Trp4047Ser)
c.9524G>C (p.Trp3175Ser)
c.12242G>C (p.Trp4081Ser)
c.12239G>C (p.Trp4080Ser)
c.12161G>C (p.Trp4054Ser)
c.12146G>C (p.Trp4049Ser)
c.5360G>C (p.Trp1787Ser)
c.5339G>C (p.Trp1780Ser)
n.12237G>C
5g.90763405G>TCA360378176ADGRV1c.12221G>T (p.Trp4074Leu)
c.1175G>T (p.Trp392Leu)
c.265+87196G>T (n.265+87196G>T)
n.2640G>T
n.798G>T
n.12234G>T
c.12218G>T (p.Trp4073Leu)
c.12140G>T (p.Trp4047Leu)
c.9524G>T (p.Trp3175Leu)
c.12242G>T (p.Trp4081Leu)
c.12239G>T (p.Trp4080Leu)
c.12161G>T (p.Trp4054Leu)
c.12146G>T (p.Trp4049Leu)
c.5360G>T (p.Trp1787Leu)
c.5339G>T (p.Trp1780Leu)
n.12237G>T
5g.90763405_90763408dupCA2767420957ADGRV1c.12221_12224dup (p.Ile4076AspfsTer4)
c.1175_1178dup (p.Ile394AspfsTer4)
c.265+87196_265+87199dup (n.265+87196_265+87199dup)
n.2640_2643dup
n.798_801dup
n.12234_12237dup
c.12218_12221dup (p.Ile4075AspfsTer4)
c.12140_12143dup (p.Ile4049AspfsTer4)
c.9524_9527dup (p.Ile3177AspfsTer4)
c.12242_12245dup (p.Ile4083AspfsTer4)
c.12239_12242dup (p.Ile4082AspfsTer4)
c.12161_12164dup (p.Ile4056AspfsTer4)
c.12146_12149dup (p.Ile4051AspfsTer4)
c.5360_5363dup (p.Ile1789AspfsTer4)
c.5339_5342dup (p.Ile1782AspfsTer4)
n.12237_12240dup
5g.90763406G>ACA360378190ADGRV1c.12222G>A (p.Trp4074Ter)
c.1176G>A (p.Trp392Ter)
c.265+87197G>A (n.265+87197G>A)
n.2641G>A
n.799G>A
n.12235G>A
c.12219G>A (p.Trp4073Ter)
c.12141G>A (p.Trp4047Ter)
c.9525G>A (p.Trp3175Ter)
c.12243G>A (p.Trp4081Ter)
c.12240G>A (p.Trp4080Ter)
c.12162G>A (p.Trp4054Ter)
c.12147G>A (p.Trp4049Ter)
c.5361G>A (p.Trp1787Ter)
c.5340G>A (p.Trp1780Ter)
n.12238G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90763406G>CCA360378198ADGRV1c.12222G>C (p.Trp4074Cys)
c.1176G>C (p.Trp392Cys)
c.265+87197G>C (n.265+87197G>C)
n.2641G>C
n.799G>C
n.12235G>C
c.12219G>C (p.Trp4073Cys)
c.12141G>C (p.Trp4047Cys)
c.9525G>C (p.Trp3175Cys)
c.12243G>C (p.Trp4081Cys)
c.12240G>C (p.Trp4080Cys)
c.12162G>C (p.Trp4054Cys)
c.12147G>C (p.Trp4049Cys)
c.5361G>C (p.Trp1787Cys)
c.5340G>C (p.Trp1780Cys)
n.12238G>C
5g.90763406G=CA1562889908ADGRV1c.12222G= (p.Trp4074=)
c.1176G= (p.Trp392=)
c.265+87197G= (n.265+87197G=)
n.2641G=
n.799G=
n.12235G=
c.12219G= (p.Trp4073=)
c.12141G= (p.Trp4047=)
c.9525G= (p.Trp3175=)
c.12243G= (p.Trp4081=)
c.12240G= (p.Trp4080=)
c.12162G= (p.Trp4054=)
c.12147G= (p.Trp4049=)
c.5361G= (p.Trp1787=)
c.5340G= (p.Trp1780=)
n.12238G=
5g.90763406G>TCA360378226ADGRV1c.12222G>T (p.Trp4074Cys)
c.1176G>T (p.Trp392Cys)
c.265+87197G>T (n.265+87197G>T)
n.2641G>T
n.799G>T
n.12235G>T
c.12219G>T (p.Trp4073Cys)
c.12141G>T (p.Trp4047Cys)
c.9525G>T (p.Trp3175Cys)
c.12243G>T (p.Trp4081Cys)
c.12240G>T (p.Trp4080Cys)
c.12162G>T (p.Trp4054Cys)
c.12147G>T (p.Trp4049Cys)
c.5361G>T (p.Trp1787Cys)
c.5340G>T (p.Trp1780Cys)
n.12238G>T
5g.90763407A>CCA360378235ADGRV1c.12223A>C (p.Thr4075Pro)
c.1177A>C (p.Thr393Pro)
c.265+87198A>C (n.265+87198A>C)
n.2642A>C
n.800A>C
n.12236A>C
c.12220A>C (p.Thr4074Pro)
c.12142A>C (p.Thr4048Pro)
c.9526A>C (p.Thr3176Pro)
c.12244A>C (p.Thr4082Pro)
c.12241A>C (p.Thr4081Pro)
c.12163A>C (p.Thr4055Pro)
c.12148A>C (p.Thr4050Pro)
c.5362A>C (p.Thr1788Pro)
c.5341A>C (p.Thr1781Pro)
n.12239A>C
5g.90763407A>GCA360378246ADGRV1c.12223A>G (p.Thr4075Ala)
c.1177A>G (p.Thr393Ala)
c.265+87198A>G (n.265+87198A>G)
n.2642A>G
n.800A>G
n.12236A>G
c.12220A>G (p.Thr4074Ala)
c.12142A>G (p.Thr4048Ala)
c.9526A>G (p.Thr3176Ala)
c.12244A>G (p.Thr4082Ala)
c.12241A>G (p.Thr4081Ala)
c.12163A>G (p.Thr4055Ala)
c.12148A>G (p.Thr4050Ala)
c.5362A>G (p.Thr1788Ala)
c.5341A>G (p.Thr1781Ala)
n.12239A>G
5g.90763407A>TCA360378250ADGRV1c.12223A>T (p.Thr4075Ser)
c.1177A>T (p.Thr393Ser)
c.265+87198A>T (n.265+87198A>T)
n.2642A>T
n.800A>T
n.12236A>T
c.12220A>T (p.Thr4074Ser)
c.12142A>T (p.Thr4048Ser)
c.9526A>T (p.Thr3176Ser)
c.12244A>T (p.Thr4082Ser)
c.12241A>T (p.Thr4081Ser)
c.12163A>T (p.Thr4055Ser)
c.12148A>T (p.Thr4050Ser)
c.5362A>T (p.Thr1788Ser)
c.5341A>T (p.Thr1781Ser)
n.12239A>T
5g.90763408C>ACA360378279ADGRV1c.12224C>A (p.Thr4075Asn)
c.1178C>A (p.Thr393Asn)
c.265+87199C>A (n.265+87199C>A)
n.2643C>A
n.801C>A
n.12237C>A
c.12221C>A (p.Thr4074Asn)
c.12143C>A (p.Thr4048Asn)
c.9527C>A (p.Thr3176Asn)
c.12245C>A (p.Thr4082Asn)
c.12242C>A (p.Thr4081Asn)
c.12164C>A (p.Thr4055Asn)
c.12149C>A (p.Thr4050Asn)
c.5363C>A (p.Thr1788Asn)
c.5342C>A (p.Thr1781Asn)
n.12240C>A
5g.90763408C=CA1562889909ADGRV1c.12224C= (p.Thr4075=)
c.1178C= (p.Thr393=)
c.265+87199C= (n.265+87199C=)
n.2643C=
n.801C=
n.12237C=
c.12221C= (p.Thr4074=)
c.12143C= (p.Thr4048=)
c.9527C= (p.Thr3176=)
c.12245C= (p.Thr4082=)
c.12242C= (p.Thr4081=)
c.12164C= (p.Thr4055=)
c.12149C= (p.Thr4050=)
c.5363C= (p.Thr1788=)
c.5342C= (p.Thr1781=)
n.12240C=
5g.90763408C>GCA360378257ADGRV1c.12224C>G (p.Thr4075Ser)
c.1178C>G (p.Thr393Ser)
c.265+87199C>G (n.265+87199C>G)
n.2643C>G
n.801C>G
n.12237C>G
c.12221C>G (p.Thr4074Ser)
c.12143C>G (p.Thr4048Ser)
c.9527C>G (p.Thr3176Ser)
c.12245C>G (p.Thr4082Ser)
c.12242C>G (p.Thr4081Ser)
c.12164C>G (p.Thr4055Ser)
c.12149C>G (p.Thr4050Ser)
c.5363C>G (p.Thr1788Ser)
c.5342C>G (p.Thr1781Ser)
n.12240C>G
5g.90763408C>TCA3341176ADGRV1c.12224C>T (p.Thr4075Ile)
c.1178C>T (p.Thr393Ile)
c.265+87199C>T (n.265+87199C>T)
n.2643C>T
n.801C>T
n.12237C>T
c.12221C>T (p.Thr4074Ile)
c.12143C>T (p.Thr4048Ile)
c.9527C>T (p.Thr3176Ile)
c.12245C>T (p.Thr4082Ile)
c.12242C>T (p.Thr4081Ile)
c.12164C>T (p.Thr4055Ile)
c.12149C>T (p.Thr4050Ile)
c.5363C>T (p.Thr1788Ile)
c.5342C>T (p.Thr1781Ile)
n.12240C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763409C>ACA445406837ADGRV1c.12225C>A (p.Thr4075=)
c.1179C>A (p.Thr393=)
c.265+87200C>A (n.265+87200C>A)
n.2644C>A
n.802C>A
n.12238C>A
c.12222C>A (p.Thr4074=)
c.12144C>A (p.Thr4048=)
c.9528C>A (p.Thr3176=)
c.12246C>A (p.Thr4082=)
c.12243C>A (p.Thr4081=)
c.12165C>A (p.Thr4055=)
c.12150C>A (p.Thr4050=)
c.5364C>A (p.Thr1788=)
c.5343C>A (p.Thr1781=)
n.12241C>A
5g.90763409C>GCA445406839ADGRV1c.12225C>G (p.Thr4075=)
c.1179C>G (p.Thr393=)
c.265+87200C>G (n.265+87200C>G)
n.2644C>G
n.802C>G
n.12238C>G
c.12222C>G (p.Thr4074=)
c.12144C>G (p.Thr4048=)
c.9528C>G (p.Thr3176=)
c.12246C>G (p.Thr4082=)
c.12243C>G (p.Thr4081=)
c.12165C>G (p.Thr4055=)
c.12150C>G (p.Thr4050=)
c.5364C>G (p.Thr1788=)
c.5343C>G (p.Thr1781=)
n.12241C>G
5g.90763409C>TCA445406838ADGRV1c.12225C>T (p.Thr4075=)
c.1179C>T (p.Thr393=)
c.265+87200C>T (n.265+87200C>T)
n.2644C>T
n.802C>T
n.12238C>T
c.12222C>T (p.Thr4074=)
c.12144C>T (p.Thr4048=)
c.9528C>T (p.Thr3176=)
c.12246C>T (p.Thr4082=)
c.12243C>T (p.Thr4081=)
c.12165C>T (p.Thr4055=)
c.12150C>T (p.Thr4050=)
c.5364C>T (p.Thr1788=)
c.5343C>T (p.Thr1781=)
n.12241C>T
5g.90763409_90763410insGTAGCA2674574506ADGRV1c.12225_12226insGTAG (p.Ile4076ValfsTer4)
c.1179_1180insGTAG (p.Ile394ValfsTer4)
c.265+87200_265+87201insGTAG (n.265+87200_265+87201insGTAG)
n.2644_2645insGTAG
n.802_803insGTAG
n.12238_12239insGTAG
c.12222_12223insGTAG (p.Ile4075ValfsTer4)
c.12144_12145insGTAG (p.Ile4049ValfsTer4)
c.9528_9529insGTAG (p.Ile3177ValfsTer4)
c.12246_12247insGTAG (p.Ile4083ValfsTer4)
c.12243_12244insGTAG (p.Ile4082ValfsTer4)
c.12165_12166insGTAG (p.Ile4056ValfsTer4)
c.12150_12151insGTAG (p.Ile4051ValfsTer4)
c.5364_5365insGTAG (p.Ile1789ValfsTer4)
c.5343_5344insGTAG (p.Ile1782ValfsTer4)
n.12241_12242insGTAG
 gnomAD v4
5g.90763410A=CA1562889910ADGRV1c.12226A= (p.Ile4076=)
c.1180A= (p.Ile394=)
c.265+87201A= (n.265+87201A=)
n.2645A=
n.803A=
n.12239A=
c.12223A= (p.Ile4075=)
c.12145A= (p.Ile4049=)
c.9529A= (p.Ile3177=)
c.12247A= (p.Ile4083=)
c.12244A= (p.Ile4082=)
c.12166A= (p.Ile4056=)
c.12151A= (p.Ile4051=)
c.5365A= (p.Ile1789=)
c.5344A= (p.Ile1782=)
n.12242A=
5g.90763410A>CCA360378285ADGRV1c.12226A>C (p.Ile4076Leu)
c.1180A>C (p.Ile394Leu)
c.265+87201A>C (n.265+87201A>C)
n.2645A>C
n.803A>C
n.12239A>C
c.12223A>C (p.Ile4075Leu)
c.12145A>C (p.Ile4049Leu)
c.9529A>C (p.Ile3177Leu)
c.12247A>C (p.Ile4083Leu)
c.12244A>C (p.Ile4082Leu)
c.12166A>C (p.Ile4056Leu)
c.12151A>C (p.Ile4051Leu)
c.5365A>C (p.Ile1789Leu)
c.5344A>C (p.Ile1782Leu)
n.12242A>C
 gnomAD v4
5g.90763410A>GCA360378289ADGRV1c.12226A>G (p.Ile4076Val)
c.1180A>G (p.Ile394Val)
c.265+87201A>G (n.265+87201A>G)
n.2645A>G
n.803A>G
n.12239A>G
c.12223A>G (p.Ile4075Val)
c.12145A>G (p.Ile4049Val)
c.9529A>G (p.Ile3177Val)
c.12247A>G (p.Ile4083Val)
c.12244A>G (p.Ile4082Val)
c.12166A>G (p.Ile4056Val)
c.12151A>G (p.Ile4051Val)
c.5365A>G (p.Ile1789Val)
c.5344A>G (p.Ile1782Val)
n.12242A>G
 dbSNP gnomAD v2 gnomAD v4
5g.90763410A>TCA360378291ADGRV1c.12226A>T (p.Ile4076Leu)
c.1180A>T (p.Ile394Leu)
c.265+87201A>T (n.265+87201A>T)
n.2645A>T
n.803A>T
n.12239A>T
c.12223A>T (p.Ile4075Leu)
c.12145A>T (p.Ile4049Leu)
c.9529A>T (p.Ile3177Leu)
c.12247A>T (p.Ile4083Leu)
c.12244A>T (p.Ile4082Leu)
c.12166A>T (p.Ile4056Leu)
c.12151A>T (p.Ile4051Leu)
c.5365A>T (p.Ile1789Leu)
c.5344A>T (p.Ile1782Leu)
n.12242A>T
5g.90763410_90763411delinsGTAGATGAGAGTAGATGCA2695204644ADGRV1c.12226_12227delinsGTAGATGAGAGTAGATG (p.Ile4076ValfsTer6)
c.1180_1181delinsGTAGATGAGAGTAGATG (p.Ile394ValfsTer6)
c.265+87201_265+87202delinsGTAGATGAGAGTAGATG (n.265+87201_265+87202delinsGTAGATGAGAGTAGATG)
n.2645_2646delinsGTAGATGAGAGTAGATG
n.803_804delinsGTAGATGAGAGTAGATG
n.12239_12240delinsGTAGATGAGAGTAGATG
c.12223_12224delinsGTAGATGAGAGTAGATG (p.Ile4075ValfsTer6)
c.12145_12146delinsGTAGATGAGAGTAGATG (p.Ile4049ValfsTer6)
c.9529_9530delinsGTAGATGAGAGTAGATG (p.Ile3177ValfsTer6)
c.12247_12248delinsGTAGATGAGAGTAGATG (p.Ile4083ValfsTer6)
c.12244_12245delinsGTAGATGAGAGTAGATG (p.Ile4082ValfsTer6)
c.12166_12167delinsGTAGATGAGAGTAGATG (p.Ile4056ValfsTer6)
c.12151_12152delinsGTAGATGAGAGTAGATG (p.Ile4051ValfsTer6)
c.5365_5366delinsGTAGATGAGAGTAGATG (p.Ile1789ValfsTer6)
c.5344_5345delinsGTAGATGAGAGTAGATG (p.Ile1782ValfsTer6)
n.12242_12243delinsGTAGATGAGAGTAGATG
 ClinVar
5g.90763411T>ACA360378295ADGRV1c.12227T>A (p.Ile4076Lys)
c.1181T>A (p.Ile394Lys)
c.265+87202T>A (n.265+87202T>A)
n.2646T>A
n.804T>A
n.12240T>A
c.12224T>A (p.Ile4075Lys)
c.12146T>A (p.Ile4049Lys)
c.9530T>A (p.Ile3177Lys)
c.12248T>A (p.Ile4083Lys)
c.12245T>A (p.Ile4082Lys)
c.12167T>A (p.Ile4056Lys)
c.12152T>A (p.Ile4051Lys)
c.5366T>A (p.Ile1789Lys)
c.5345T>A (p.Ile1782Lys)
n.12243T>A
5g.90763411T>CCA360378296ADGRV1c.12227T>C (p.Ile4076Thr)
c.1181T>C (p.Ile394Thr)
c.265+87202T>C (n.265+87202T>C)
n.2646T>C
n.804T>C
n.12240T>C
c.12224T>C (p.Ile4075Thr)
c.12146T>C (p.Ile4049Thr)
c.9530T>C (p.Ile3177Thr)
c.12248T>C (p.Ile4083Thr)
c.12245T>C (p.Ile4082Thr)
c.12167T>C (p.Ile4056Thr)
c.12152T>C (p.Ile4051Thr)
c.5366T>C (p.Ile1789Thr)
c.5345T>C (p.Ile1782Thr)
n.12243T>C
 gnomAD v4
5g.90763411T>GCA360378300ADGRV1c.12227T>G (p.Ile4076Arg)
c.1181T>G (p.Ile394Arg)
c.265+87202T>G (n.265+87202T>G)
n.2646T>G
n.804T>G
n.12240T>G
c.12224T>G (p.Ile4075Arg)
c.12146T>G (p.Ile4049Arg)
c.9530T>G (p.Ile3177Arg)
c.12248T>G (p.Ile4083Arg)
c.12245T>G (p.Ile4082Arg)
c.12167T>G (p.Ile4056Arg)
c.12152T>G (p.Ile4051Arg)
c.5366T>G (p.Ile1789Arg)
c.5345T>G (p.Ile1782Arg)
n.12243T>G
5g.90763411_90763412insGAGAGTAGATGCA2674574512ADGRV1c.12227_12228insGAGAGTAGATG (p.Ile4076MetfsTer16)
c.1181_1182insGAGAGTAGATG (p.Ile394MetfsTer16)
c.265+87202_265+87203insGAGAGTAGATG (n.265+87202_265+87203insGAGAGTAGATG)
n.2646_2647insGAGAGTAGATG
n.804_805insGAGAGTAGATG
n.12240_12241insGAGAGTAGATG
c.12224_12225insGAGAGTAGATG (p.Ile4075MetfsTer16)
c.12146_12147insGAGAGTAGATG (p.Ile4049MetfsTer16)
c.9530_9531insGAGAGTAGATG (p.Ile3177MetfsTer16)
c.12248_12249insGAGAGTAGATG (p.Ile4083MetfsTer16)
c.12245_12246insGAGAGTAGATG (p.Ile4082MetfsTer16)
c.12167_12168insGAGAGTAGATG (p.Ile4056MetfsTer16)
c.12152_12153insGAGAGTAGATG (p.Ile4051MetfsTer16)
c.5366_5367insGAGAGTAGATG (p.Ile1789MetfsTer16)
c.5345_5346insGAGAGTAGATG (p.Ile1782MetfsTer16)
n.12243_12244insGAGAGTAGATG
 gnomAD v4
5g.90763412A=CA1562889911ADGRV1c.12228A= (p.Ile4076=)
c.1182A= (p.Ile394=)
c.265+87203A= (n.265+87203A=)
n.2647A=
n.805A=
n.12241A=
c.12225A= (p.Ile4075=)
c.12147A= (p.Ile4049=)
c.9531A= (p.Ile3177=)
c.12249A= (p.Ile4083=)
c.12246A= (p.Ile4082=)
c.12168A= (p.Ile4056=)
c.12153A= (p.Ile4051=)
c.5367A= (p.Ile1789=)
c.5346A= (p.Ile1782=)
n.12244A=
5g.90763412A>CCA445406851ADGRV1c.12228A>C (p.Ile4076=)
c.1182A>C (p.Ile394=)
c.265+87203A>C (n.265+87203A>C)
n.2647A>C
n.805A>C
n.12241A>C
c.12225A>C (p.Ile4075=)
c.12147A>C (p.Ile4049=)
c.9531A>C (p.Ile3177=)
c.12249A>C (p.Ile4083=)
c.12246A>C (p.Ile4082=)
c.12168A>C (p.Ile4056=)
c.12153A>C (p.Ile4051=)
c.5367A>C (p.Ile1789=)
c.5346A>C (p.Ile1782=)
n.12244A>C
 gnomAD v4
5g.90763412A>GCA360378308ADGRV1c.12228A>G (p.Ile4076Met)
c.1182A>G (p.Ile394Met)
c.265+87203A>G (n.265+87203A>G)
n.2647A>G
n.805A>G
n.12241A>G
c.12225A>G (p.Ile4075Met)
c.12147A>G (p.Ile4049Met)
c.9531A>G (p.Ile3177Met)
c.12249A>G (p.Ile4083Met)
c.12246A>G (p.Ile4082Met)
c.12168A>G (p.Ile4056Met)
c.12153A>G (p.Ile4051Met)
c.5367A>G (p.Ile1789Met)
c.5346A>G (p.Ile1782Met)
n.12244A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90763412A>TCA445406853ADGRV1c.12228A>T (p.Ile4076=)
c.1182A>T (p.Ile394=)
c.265+87203A>T (n.265+87203A>T)
n.2647A>T
n.805A>T
n.12241A>T
c.12225A>T (p.Ile4075=)
c.12147A>T (p.Ile4049=)
c.9531A>T (p.Ile3177=)
c.12249A>T (p.Ile4083=)
c.12246A>T (p.Ile4082=)
c.12168A>T (p.Ile4056=)
c.12153A>T (p.Ile4051=)
c.5367A>T (p.Ile1789=)
c.5346A>T (p.Ile1782=)
n.12244A>T
5g.90763413G>ACA360378335ADGRV1c.12229G>A (p.Asp4077Asn)
c.1183G>A (p.Asp395Asn)
c.265+87204G>A (n.265+87204G>A)
n.2648G>A
n.806G>A
n.12242G>A
c.12226G>A (p.Asp4076Asn)
c.12148G>A (p.Asp4050Asn)
c.9532G>A (p.Asp3178Asn)
c.12250G>A (p.Asp4084Asn)
c.12247G>A (p.Asp4083Asn)
c.12169G>A (p.Asp4057Asn)
c.12154G>A (p.Asp4052Asn)
c.5368G>A (p.Asp1790Asn)
c.5347G>A (p.Asp1783Asn)
n.12245G>A
5g.90763413G>CCA360378345ADGRV1c.12229G>C (p.Asp4077His)
c.1183G>C (p.Asp395His)
c.265+87204G>C (n.265+87204G>C)
n.2648G>C
n.806G>C
n.12242G>C
c.12226G>C (p.Asp4076His)
c.12148G>C (p.Asp4050His)
c.9532G>C (p.Asp3178His)
c.12250G>C (p.Asp4084His)
c.12247G>C (p.Asp4083His)
c.12169G>C (p.Asp4057His)
c.12154G>C (p.Asp4052His)
c.5368G>C (p.Asp1790His)
c.5347G>C (p.Asp1783His)
n.12245G>C
 COSMIC
5g.90763413G>TCA360378356ADGRV1c.12229G>T (p.Asp4077Tyr)
c.1183G>T (p.Asp395Tyr)
c.265+87204G>T (n.265+87204G>T)
n.2648G>T
n.806G>T
n.12242G>T
c.12226G>T (p.Asp4076Tyr)
c.12148G>T (p.Asp4050Tyr)
c.9532G>T (p.Asp3178Tyr)
c.12250G>T (p.Asp4084Tyr)
c.12247G>T (p.Asp4083Tyr)
c.12169G>T (p.Asp4057Tyr)
c.12154G>T (p.Asp4052Tyr)
c.5368G>T (p.Asp1790Tyr)
c.5347G>T (p.Asp1783Tyr)
n.12245G>T
5g.90763414A>CCA360378357ADGRV1c.12230A>C (p.Asp4077Ala)
c.1184A>C (p.Asp395Ala)
c.265+87205A>C (n.265+87205A>C)
n.2649A>C
n.807A>C
n.12243A>C
c.12227A>C (p.Asp4076Ala)
c.12149A>C (p.Asp4050Ala)
c.9533A>C (p.Asp3178Ala)
c.12251A>C (p.Asp4084Ala)
c.12248A>C (p.Asp4083Ala)
c.12170A>C (p.Asp4057Ala)
c.12155A>C (p.Asp4052Ala)
c.5369A>C (p.Asp1790Ala)
c.5348A>C (p.Asp1783Ala)
n.12246A>C
5g.90763414A>GCA360378358ADGRV1c.12230A>G (p.Asp4077Gly)
c.1184A>G (p.Asp395Gly)
c.265+87205A>G (n.265+87205A>G)
n.2649A>G
n.807A>G
n.12243A>G
c.12227A>G (p.Asp4076Gly)
c.12149A>G (p.Asp4050Gly)
c.9533A>G (p.Asp3178Gly)
c.12251A>G (p.Asp4084Gly)
c.12248A>G (p.Asp4083Gly)
c.12170A>G (p.Asp4057Gly)
c.12155A>G (p.Asp4052Gly)
c.5369A>G (p.Asp1790Gly)
c.5348A>G (p.Asp1783Gly)
n.12246A>G
5g.90763414A>TCA360378360ADGRV1c.12230A>T (p.Asp4077Val)
c.1184A>T (p.Asp395Val)
c.265+87205A>T (n.265+87205A>T)
n.2649A>T
n.807A>T
n.12243A>T
c.12227A>T (p.Asp4076Val)
c.12149A>T (p.Asp4050Val)
c.9533A>T (p.Asp3178Val)
c.12251A>T (p.Asp4084Val)
c.12248A>T (p.Asp4083Val)
c.12170A>T (p.Asp4057Val)
c.12155A>T (p.Asp4052Val)
c.5369A>T (p.Asp1790Val)
c.5348A>T (p.Asp1783Val)
n.12246A>T
5g.90763415T>ACA360378387ADGRV1c.12231T>A (p.Asp4077Glu)
c.1185T>A (p.Asp395Glu)
c.265+87206T>A (n.265+87206T>A)
n.2650T>A
n.808T>A
n.12244T>A
c.12228T>A (p.Asp4076Glu)
c.12150T>A (p.Asp4050Glu)
c.9534T>A (p.Asp3178Glu)
c.12252T>A (p.Asp4084Glu)
c.12249T>A (p.Asp4083Glu)
c.12171T>A (p.Asp4057Glu)
c.12156T>A (p.Asp4052Glu)
c.5370T>A (p.Asp1790Glu)
c.5349T>A (p.Asp1783Glu)
n.12247T>A
5g.90763415T>CCA122800401ADGRV1c.12231T>C (p.Asp4077=)
c.1185T>C (p.Asp395=)
c.265+87206T>C (n.265+87206T>C)
n.2650T>C
n.808T>C
n.12244T>C
c.12228T>C (p.Asp4076=)
c.12150T>C (p.Asp4050=)
c.9534T>C (p.Asp3178=)
c.12252T>C (p.Asp4084=)
c.12249T>C (p.Asp4083=)
c.12171T>C (p.Asp4057=)
c.12156T>C (p.Asp4052=)
c.5370T>C (p.Asp1790=)
c.5349T>C (p.Asp1783=)
n.12247T>C
 dbSNP gnomAD v3 gnomAD v4
5g.90763415T>GCA360378380ADGRV1c.12231T>G (p.Asp4077Glu)
c.1185T>G (p.Asp395Glu)
c.265+87206T>G (n.265+87206T>G)
n.2650T>G
n.808T>G
n.12244T>G
c.12228T>G (p.Asp4076Glu)
c.12150T>G (p.Asp4050Glu)
c.9534T>G (p.Asp3178Glu)
c.12252T>G (p.Asp4084Glu)
c.12249T>G (p.Asp4083Glu)
c.12171T>G (p.Asp4057Glu)
c.12156T>G (p.Asp4052Glu)
c.5370T>G (p.Asp1790Glu)
c.5349T>G (p.Asp1783Glu)
n.12247T>G
5g.90763415T=CA1562889912ADGRV1c.12231T= (p.Asp4077=)
c.1185T= (p.Asp395=)
c.265+87206T= (n.265+87206T=)
n.2650T=
n.808T=
n.12244T=
c.12228T= (p.Asp4076=)
c.12150T= (p.Asp4050=)
c.9534T= (p.Asp3178=)
c.12252T= (p.Asp4084=)
c.12249T= (p.Asp4083=)
c.12171T= (p.Asp4057=)
c.12156T= (p.Asp4052=)
c.5370T= (p.Asp1790=)
c.5349T= (p.Asp1783=)
n.12247T=
5g.90763416G>ACA360378397ADGRV1c.12232G>A (p.Glu4078Lys)
c.1186G>A (p.Glu396Lys)
c.265+87207G>A (n.265+87207G>A)
n.2651G>A
n.809G>A
n.12245G>A
c.12229G>A (p.Glu4077Lys)
c.12151G>A (p.Glu4051Lys)
c.9535G>A (p.Glu3179Lys)
c.12253G>A (p.Glu4085Lys)
c.12250G>A (p.Glu4084Lys)
c.12172G>A (p.Glu4058Lys)
c.12157G>A (p.Glu4053Lys)
c.5371G>A (p.Glu1791Lys)
c.5350G>A (p.Glu1784Lys)
n.12248G>A
5g.90763416G>CCA360378399ADGRV1c.12232G>C (p.Glu4078Gln)
c.1186G>C (p.Glu396Gln)
c.265+87207G>C (n.265+87207G>C)
n.2651G>C
n.809G>C
n.12245G>C
c.12229G>C (p.Glu4077Gln)
c.12151G>C (p.Glu4051Gln)
c.9535G>C (p.Glu3179Gln)
c.12253G>C (p.Glu4085Gln)
c.12250G>C (p.Glu4084Gln)
c.12172G>C (p.Glu4058Gln)
c.12157G>C (p.Glu4053Gln)
c.5371G>C (p.Glu1791Gln)
c.5350G>C (p.Glu1784Gln)
n.12248G>C
5g.90763416G>TCA360378406ADGRV1c.12232G>T (p.Glu4078Ter)
c.1186G>T (p.Glu396Ter)
c.265+87207G>T (n.265+87207G>T)
n.2651G>T
n.809G>T
n.12245G>T
c.12229G>T (p.Glu4077Ter)
c.12151G>T (p.Glu4051Ter)
c.9535G>T (p.Glu3179Ter)
c.12253G>T (p.Glu4085Ter)
c.12250G>T (p.Glu4084Ter)
c.12172G>T (p.Glu4058Ter)
c.12157G>T (p.Glu4053Ter)
c.5371G>T (p.Glu1791Ter)
c.5350G>T (p.Glu1784Ter)
n.12248G>T
5g.90763417A>CCA360378410ADGRV1c.12233A>C (p.Glu4078Ala)
c.1187A>C (p.Glu396Ala)
c.265+87208A>C (n.265+87208A>C)
n.2652A>C
n.810A>C
n.12246A>C
c.12230A>C (p.Glu4077Ala)
c.12152A>C (p.Glu4051Ala)
c.9536A>C (p.Glu3179Ala)
c.12254A>C (p.Glu4085Ala)
c.12251A>C (p.Glu4084Ala)
c.12173A>C (p.Glu4058Ala)
c.12158A>C (p.Glu4053Ala)
c.5372A>C (p.Glu1791Ala)
c.5351A>C (p.Glu1784Ala)
n.12249A>C
5g.90763417A>GCA360378412ADGRV1c.12233A>G (p.Glu4078Gly)
c.1187A>G (p.Glu396Gly)
c.265+87208A>G (n.265+87208A>G)
n.2652A>G
n.810A>G
n.12246A>G
c.12230A>G (p.Glu4077Gly)
c.12152A>G (p.Glu4051Gly)
c.9536A>G (p.Glu3179Gly)
c.12254A>G (p.Glu4085Gly)
c.12251A>G (p.Glu4084Gly)
c.12173A>G (p.Glu4058Gly)
c.12158A>G (p.Glu4053Gly)
c.5372A>G (p.Glu1791Gly)
c.5351A>G (p.Glu1784Gly)
n.12249A>G
5g.90763417A>TCA360378415ADGRV1c.12233A>T (p.Glu4078Val)
c.1187A>T (p.Glu396Val)
c.265+87208A>T (n.265+87208A>T)
n.2652A>T
n.810A>T
n.12246A>T
c.12230A>T (p.Glu4077Val)
c.12152A>T (p.Glu4051Val)
c.9536A>T (p.Glu3179Val)
c.12254A>T (p.Glu4085Val)
c.12251A>T (p.Glu4084Val)
c.12173A>T (p.Glu4058Val)
c.12158A>T (p.Glu4053Val)
c.5372A>T (p.Glu1791Val)
c.5351A>T (p.Glu1784Val)
n.12249A>T
5g.90763418G>ACA445406904ADGRV1c.12234G>A (p.Glu4078=)
c.1188G>A (p.Glu396=)
c.265+87209G>A (n.265+87209G>A)
n.2653G>A
n.811G>A
n.12247G>A
c.12231G>A (p.Glu4077=)
c.12153G>A (p.Glu4051=)
c.9537G>A (p.Glu3179=)
c.12255G>A (p.Glu4085=)
c.12252G>A (p.Glu4084=)
c.12174G>A (p.Glu4058=)
c.12159G>A (p.Glu4053=)
c.5373G>A (p.Glu1791=)
c.5352G>A (p.Glu1784=)
n.12250G>A
5g.90763418G>CCA360378420ADGRV1c.12234G>C (p.Glu4078Asp)
c.1188G>C (p.Glu396Asp)
c.265+87209G>C (n.265+87209G>C)
n.2653G>C
n.811G>C
n.12247G>C
c.12231G>C (p.Glu4077Asp)
c.12153G>C (p.Glu4051Asp)
c.9537G>C (p.Glu3179Asp)
c.12255G>C (p.Glu4085Asp)
c.12252G>C (p.Glu4084Asp)
c.12174G>C (p.Glu4058Asp)
c.12159G>C (p.Glu4053Asp)
c.5373G>C (p.Glu1791Asp)
c.5352G>C (p.Glu1784Asp)
n.12250G>C
5g.90763418G>TCA360378423ADGRV1c.12234G>T (p.Glu4078Asp)
c.1188G>T (p.Glu396Asp)
c.265+87209G>T (n.265+87209G>T)
n.2653G>T
n.811G>T
n.12247G>T
c.12231G>T (p.Glu4077Asp)
c.12153G>T (p.Glu4051Asp)
c.9537G>T (p.Glu3179Asp)
c.12255G>T (p.Glu4085Asp)
c.12252G>T (p.Glu4084Asp)
c.12174G>T (p.Glu4058Asp)
c.12159G>T (p.Glu4053Asp)
c.5373G>T (p.Glu1791Asp)
c.5352G>T (p.Glu1784Asp)
n.12250G>T
5g.90763419A=CA1562889913ADGRV1c.12235A= (p.Lys4079=)
c.1189A= (p.Lys397=)
c.265+87210A= (n.265+87210A=)
n.2654A=
n.812A=
n.12248A=
c.12232A= (p.Lys4078=)
c.12154A= (p.Lys4052=)
c.9538A= (p.Lys3180=)
c.12256A= (p.Lys4086=)
c.12253A= (p.Lys4085=)
c.12175A= (p.Lys4059=)
c.12160A= (p.Lys4054=)
c.5374A= (p.Lys1792=)
c.5353A= (p.Lys1785=)
n.12251A=
5g.90763419A>CCA360378427ADGRV1c.12235A>C (p.Lys4079Gln)
c.1189A>C (p.Lys397Gln)
c.265+87210A>C (n.265+87210A>C)
n.2654A>C
n.812A>C
n.12248A>C
c.12232A>C (p.Lys4078Gln)
c.12154A>C (p.Lys4052Gln)
c.9538A>C (p.Lys3180Gln)
c.12256A>C (p.Lys4086Gln)
c.12253A>C (p.Lys4085Gln)
c.12175A>C (p.Lys4059Gln)
c.12160A>C (p.Lys4054Gln)
c.5374A>C (p.Lys1792Gln)
c.5353A>C (p.Lys1785Gln)
n.12251A>C
5g.90763419A>GCA3341177ADGRV1c.12235A>G (p.Lys4079Glu)
c.1189A>G (p.Lys397Glu)
c.265+87210A>G (n.265+87210A>G)
n.2654A>G
n.812A>G
n.12248A>G
c.12232A>G (p.Lys4078Glu)
c.12154A>G (p.Lys4052Glu)
c.9538A>G (p.Lys3180Glu)
c.12256A>G (p.Lys4086Glu)
c.12253A>G (p.Lys4085Glu)
c.12175A>G (p.Lys4059Glu)
c.12160A>G (p.Lys4054Glu)
c.5374A>G (p.Lys1792Glu)
c.5353A>G (p.Lys1785Glu)
n.12251A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90763419A>TCA360378432ADGRV1c.12235A>T (p.Lys4079Ter)
c.1189A>T (p.Lys397Ter)
c.265+87210A>T (n.265+87210A>T)
n.2654A>T
n.812A>T
n.12248A>T
c.12232A>T (p.Lys4078Ter)
c.12154A>T (p.Lys4052Ter)
c.9538A>T (p.Lys3180Ter)
c.12256A>T (p.Lys4086Ter)
c.12253A>T (p.Lys4085Ter)
c.12175A>T (p.Lys4059Ter)
c.12160A>T (p.Lys4054Ter)
c.5374A>T (p.Lys1792Ter)
c.5353A>T (p.Lys1785Ter)
n.12251A>T

Number of alleles fetched