Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90763318_90763319del | CA2674574418 | ADGRV1 | c.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 |
5 | g.90763319A>C | CA360377136 | ADGRV1 | c.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 | |
5 | g.90763319A>G | CA445406343 | ADGRV1 | c.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 |
5 | g.90763319A>T | CA360377137 | ADGRV1 | c.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 | |
5 | g.90763320T>A | CA360377140 | ADGRV1 | c.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 | |
5 | g.90763320T>C | CA360377143 | ADGRV1 | c.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 |
5 | g.90763320T>G | CA360377148 | ADGRV1 | c.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 | |
5 | g.90763321C>A | CA360377162 | ADGRV1 | c.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 |
5 | g.90763321C>G | CA360377157 | ADGRV1 | c.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 | |
5 | g.90763321C>T | CA360377153 | ADGRV1 | c.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 |
5 | g.90763322C>A | CA445406358 | ADGRV1 | c.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 |
5 | g.90763322C>G | CA445406357 | ADGRV1 | c.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 | |
5 | g.90763322C>T | CA445406356 | ADGRV1 | c.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 | |
5 | g.90763323C>A | CA360377167 | ADGRV1 | c.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 |
5 | g.90763323C>G | CA360377173 | ADGRV1 | c.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 |
5 | g.90763323C>T | CA360377176 | ADGRV1 | c.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 | |
5 | g.90763324T>A | CA360377180 | ADGRV1 | c.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 | |
5 | g.90763324T>C | CA360377199 | ADGRV1 | c.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 |
5 | g.90763324T>G | CA360377202 | ADGRV1 | c.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 | |
5 | g.90763325T>A | CA445406370 | ADGRV1 | c.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 | |
5 | g.90763325T>C | CA445406372 | ADGRV1 | c.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 | |
5 | g.90763325T>G | CA445406375 | ADGRV1 | c.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 | |
5 | g.90763326T>A | CA360377207 | ADGRV1 | c.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 | |
5 | g.90763326T>C | CA360377209 | ADGRV1 | c.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 | |
5 | g.90763326T>G | CA360377212 | ADGRV1 | c.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 | |
5 | g.90763327C>A | CA360377219 | ADGRV1 | c.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 |
5 | g.90763327C>G | CA360377226 | ADGRV1 | c.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 | |
5 | g.90763327C>T | CA360377229 | ADGRV1 | c.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 | |
5 | g.90763328A>C | CA445406384 | ADGRV1 | c.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 | |
5 | g.90763328A>G | CA445406386 | ADGRV1 | c.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 |
5 | g.90763328A>T | CA445406387 | ADGRV1 | c.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 | |
5 | g.90763329T>A | CA360377243 | ADGRV1 | c.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 | |
5 | g.90763329T>C | CA360377239 | ADGRV1 | c.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 |
5 | g.90763329T>G | CA360377234 | ADGRV1 | c.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 | |
5 | g.90763330C>A | CA360377247 | ADGRV1 | c.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 |
5 | g.90763330C>G | CA360377250 | ADGRV1 | c.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 | |
5 | g.90763330C>T | CA360377254 | ADGRV1 | c.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 |
5 | g.90763331C>A | CA445406393 | ADGRV1 | c.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 |
5 | g.90763331C= | CA1562889870 | ADGRV1 | c.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= | |
5 | g.90763331C>G | CA445406395 | ADGRV1 | c.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 | |
5 | g.90763331C>T | CA445406396 | ADGRV1 | c.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 |
5 | g.90763332G>A | CA3341162 | ADGRV1 | c.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 |
5 | g.90763332G>C | CA360377263 | ADGRV1 | c.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 | |
5 | g.90763332G= | CA1562889871 | ADGRV1 | c.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= | |
5 | g.90763332G>T | CA360377274 | ADGRV1 | c.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 |
5 | g.90763333A>C | CA360377288 | ADGRV1 | c.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 | |
5 | g.90763333A>G | CA360377279 | ADGRV1 | c.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 | |
5 | g.90763333A>T | CA360377282 | ADGRV1 | c.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 | |
5 | g.90763333dup | CA2674574432 | ADGRV1 | c.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 |
5 | g.90763334T>A | CA360377293 | ADGRV1 | c.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 | |
5 | g.90763334T>C | CA445406402 | ADGRV1 | c.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 |
5 | g.90763334T>G | CA360377298 | ADGRV1 | c.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 | |
5 | g.90763335G>A | CA360377303 | ADGRV1 | c.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 | |
5 | g.90763335G>C | CA360377310 | ADGRV1 | c.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 | |
5 | g.90763335G>T | CA360377311 | ADGRV1 | c.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 | |
5 | g.90763336A>C | CA360377312 | ADGRV1 | c.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 | |
5 | g.90763336A>G | CA360377314 | ADGRV1 | c.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 | |
5 | g.90763336A>T | CA360377313 | ADGRV1 | c.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 | |
5 | g.90763337C>A | CA360377317 | ADGRV1 | c.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 |
5 | g.90763337C= | CA1562889872 | ADGRV1 | c.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= | |
5 | g.90763337C>G | CA360377321 | ADGRV1 | c.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 |
5 | g.90763337C>T | CA445406408 | ADGRV1 | c.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 |
5 | g.90763338C>A | CA360377332 | ADGRV1 | c.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 | |
5 | g.90763338C= | CA1562889873 | ADGRV1 | c.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= | |
5 | g.90763338C>G | CA360377334 | ADGRV1 | c.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 |
5 | g.90763338C>T | CA360377336 | ADGRV1 | c.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 |
5 | g.90763339C>A | CA122800379 | ADGRV1 | c.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 |
5 | g.90763339C= | CA1562889874 | ADGRV1 | c.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= | |
5 | g.90763339C>G | CA360377346 | ADGRV1 | c.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 |
5 | g.90763339C>T | CA3341163 | ADGRV1 | c.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 |
5 | g.90763340T>A | CA445406411 | ADGRV1 | c.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 | |
5 | g.90763340T>C | CA445406412 | ADGRV1 | c.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 |
5 | g.90763340T>G | CA445406414 | ADGRV1 | c.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 | |
5 | g.90763341G>A | CA360377354 | ADGRV1 | c.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 |
5 | g.90763341G>C | CA360377357 | ADGRV1 | c.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 | |
5 | g.90763341G= | CA1562889875 | ADGRV1 | c.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= | |
5 | g.90763341G>T | CA360377366 | ADGRV1 | c.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 | |
5 | g.90763342A>C | CA360377382 | ADGRV1 | c.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 | |
5 | g.90763342A>G | CA360377386 | ADGRV1 | c.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 | |
5 | g.90763342A>T | CA360377376 | ADGRV1 | c.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 | |
5 | g.90763343T>A | CA360377388 | ADGRV1 | c.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 | |
5 | g.90763343T>C | CA445406417 | ADGRV1 | c.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 | |
5 | g.90763343T>G | CA360377393 | ADGRV1 | c.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 | |
5 | g.90763344T>A | CA360377407 | ADGRV1 | c.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 | |
5 | g.90763344T>C | CA360377420 | ADGRV1 | c.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 | |
5 | g.90763344T>G | CA360377424 | ADGRV1 | c.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 | |
5 | g.90763345C>A | CA360377430 | ADGRV1 | c.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 | |
5 | g.90763345C= | CA1562889876 | ADGRV1 | c.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= | |
5 | g.90763345C>G | CA360377432 | ADGRV1 | c.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 | |
5 | g.90763345C>T | CA360377437 | ADGRV1 | c.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 |
5 | g.90763346del | CA2674574446 | ADGRV1 | c.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 |
5 | g.90763346A= | CA1562889877 | ADGRV1 | c.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= | |
5 | g.90763346A>C | CA445406425 | ADGRV1 | c.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 |
5 | g.90763346A>G | CA445406424 | ADGRV1 | c.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 |
5 | g.90763346A>T | CA445406423 | ADGRV1 | c.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 | |
5 | g.90763347T>A | CA360377444 | ADGRV1 | c.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 |
5 | g.90763347T>C | CA360377447 | ADGRV1 | c.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 |
5 | g.90763347T>G | CA360377451 | ADGRV1 | c.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 | |
5 | g.90763347T= | CA1562889878 | ADGRV1 | c.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= | |
5 | g.90763348A>C | CA360377457 | ADGRV1 | c.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 | |
5 | g.90763348A>G | CA360377458 | ADGRV1 | c.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 | |
5 | g.90763348A>T | CA360377459 | ADGRV1 | c.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 | |
5 | g.90763348dup | CA122800380 | ADGRV1 | c.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 |
5 | g.90763349T>A | CA360377483 | ADGRV1 | c.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 | |
5 | g.90763349T>C | CA445406435 | ADGRV1 | c.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 |
5 | g.90763349T>G | CA360377463 | ADGRV1 | c.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 | |
5 | g.90763350G>A | CA360377487 | ADGRV1 | c.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 |
5 | g.90763350G>C | CA360377489 | ADGRV1 | c.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 | |
5 | g.90763350G= | CA1562889879 | ADGRV1 | c.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= | |
5 | g.90763350G>T | CA360377490 | ADGRV1 | c.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 | |
5 | g.90763351T>A | CA360377493 | ADGRV1 | c.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 | |
5 | g.90763351T>C | CA360377506 | ADGRV1 | c.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 | |
5 | g.90763351T>G | CA360377507 | ADGRV1 | c.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 | |
5 | g.90763352G>A | CA445406439 | ADGRV1 | c.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 |
5 | g.90763352G>C | CA445406441 | ADGRV1 | c.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 | |
5 | g.90763352G>T | CA445406442 | ADGRV1 | c.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 | |
5 | g.90763353A>C | CA360377512 | ADGRV1 | c.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 | |
5 | g.90763353A>G | CA360377509 | ADGRV1 | c.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 |
5 | g.90763353A>T | CA360377510 | ADGRV1 | c.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 | |
5 | g.90763354C>A | CA360377523 | ADGRV1 | c.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 | |
5 | g.90763354C= | CA1562889880 | ADGRV1 | c.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= | |
5 | g.90763354C>G | CA360377525 | ADGRV1 | c.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 | |
5 | g.90763354C>T | CA360377530 | ADGRV1 | c.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 |
5 | g.90763355A= | CA1562889881 | ADGRV1 | c.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= | |
5 | g.90763355A>C | CA445406448 | ADGRV1 | c.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 |
5 | g.90763355A>G | CA445406449 | ADGRV1 | c.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 |
5 | g.90763355A>T | CA445406451 | ADGRV1 | c.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 | |
5 | g.90763356T>A | CA360377540 | ADGRV1 | c.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 |
5 | g.90763356T>C | CA445406457 | ADGRV1 | c.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 | |
5 | g.90763356T>G | CA360377544 | ADGRV1 | c.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 | |
5 | g.90763356T= | CA1562889882 | ADGRV1 | c.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= | |
5 | g.90763357T>A | CA360377563 | ADGRV1 | c.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 | |
5 | g.90763357T>C | CA360377550 | ADGRV1 | c.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 | |
5 | g.90763357T>G | CA360377556 | ADGRV1 | c.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 | |
5 | g.90763358G>A | CA3341164 | ADGRV1 | c.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 |
5 | g.90763358G>C | CA360377585 | ADGRV1 | c.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 | |
5 | g.90763358G= | CA1562889883 | ADGRV1 | c.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= | |
5 | g.90763358G>T | CA360377604 | ADGRV1 | c.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 |
5 | g.90763359A= | CA1562889884 | ADGRV1 | c.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= | |
5 | g.90763359A>C | CA360377616 | ADGRV1 | c.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 | |
5 | g.90763359A>G | CA122800381 | ADGRV1 | c.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 |
5 | g.90763359A>T | CA360377617 | ADGRV1 | c.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 | |
5 | g.90763360C>A | CA360377622 | ADGRV1 | c.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 | |
5 | g.90763360C= | CA1562889885 | ADGRV1 | c.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= | |
5 | g.90763360C>G | CA360377618 | ADGRV1 | c.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 | |
5 | g.90763360C>T | CA3341165 | ADGRV1 | c.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 |
5 | g.90763361G>A | CA445406473 | ADGRV1 | c.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 |
5 | g.90763361G>C | CA445406474 | ADGRV1 | c.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 | |
5 | g.90763361G= | CA1562889886 | ADGRV1 | c.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= | |
5 | g.90763361G>T | CA445406475 | ADGRV1 | c.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 |
5 | g.90763361_90763365del | CA2695204643 | ADGRV1 | c.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 | |
5 | g.90763362G>A | CA360377630 | ADGRV1 | c.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 | |
5 | g.90763362G>C | CA360377644 | ADGRV1 | c.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 | |
5 | g.90763362G>T | CA360377647 | ADGRV1 | c.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 | |
5 | g.90763363T>A | CA360377657 | ADGRV1 | c.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 | |
5 | g.90763363T>C | CA360377664 | ADGRV1 | c.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 | |
5 | g.90763363T>G | CA360377673 | ADGRV1 | c.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 | |
5 | g.90763364T>A | CA445406501 | ADGRV1 | c.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 | |
5 | g.90763364T>C | CA445406505 | ADGRV1 | c.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 | |
5 | g.90763364T>G | CA445406498 | ADGRV1 | c.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 |
5 | g.90763365G>A | CA360377683 | ADGRV1 | c.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 |
5 | g.90763365G>C | CA3341166 | ADGRV1 | c.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 |
5 | g.90763365G= | CA1562889887 | ADGRV1 | c.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= | |
5 | g.90763365G>T | CA176223 | ADGRV1 | c.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 |
5 | g.90763366T>A | CA360377691 | ADGRV1 | c.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 | |
5 | g.90763366T>C | CA360377696 | ADGRV1 | c.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 | |
5 | g.90763366T>G | CA360377704 | ADGRV1 | c.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 | |
5 | g.90763367C>A | CA445406530 | ADGRV1 | c.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 | |
5 | g.90763367C>G | CA445406534 | ADGRV1 | c.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 | |
5 | g.90763367C>T | CA445406531 | ADGRV1 | c.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 |
5 | g.90763368C>A | CA445406537 | ADGRV1 | c.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 | |
5 | g.90763368C= | CA1562889888 | ADGRV1 | c.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= | |
5 | g.90763368C>G | CA360377711 | ADGRV1 | c.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 | |
5 | g.90763368C>T | CA3341167 | ADGRV1 | c.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 |
5 | g.90763369G>A | CA3341168 | ADGRV1 | c.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 |
5 | g.90763369G>C | CA3341169 | ADGRV1 | c.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 |
5 | g.90763369G= | CA1562889889 | ADGRV1 | c.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= | |
5 | g.90763369G>T | CA122800386 | ADGRV1 | c.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 |
5 | g.90763370G>A | CA445406546 | ADGRV1 | c.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 | |
5 | g.90763370G>C | CA445406547 | ADGRV1 | c.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 | |
5 | g.90763370G>T | CA445406548 | ADGRV1 | c.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 | |
5 | g.90763371T>A | CA360377742 | ADGRV1 | c.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 | |
5 | g.90763371T>C | CA360377762 | ADGRV1 | c.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 | |
5 | g.90763371T>G | CA360377767 | ADGRV1 | c.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 | |
5 | g.90763372C>A | CA360377791 | ADGRV1 | c.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 | |
5 | g.90763372C>G | CA360377770 | ADGRV1 | c.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 | |
5 | g.90763372C>T | CA360377772 | ADGRV1 | c.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 | |
5 | g.90763375del | CA2578359790 | ADGRV1 | c.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 | |
5 | g.90763373C>A | CA445406562 | ADGRV1 | c.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 |
5 | g.90763373C= | CA1562889890 | ADGRV1 | c.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= | |
5 | g.90763373C>G | CA445406564 | ADGRV1 | c.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 | |
5 | g.90763373C>T | CA445406566 | ADGRV1 | c.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 |
5 | g.90763374C>A | CA360377795 | ADGRV1 | c.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 | |
5 | g.90763374C= | CA1562889891 | ADGRV1 | c.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= | |
5 | g.90763374C>G | CA360377799 | ADGRV1 | c.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 |
5 | g.90763374C>T | CA360377804 | ADGRV1 | c.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 | |
5 | g.90763375C>A | CA360377811 | ADGRV1 | c.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 | |
5 | g.90763375C= | CA1562889892 | ADGRV1 | c.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= | |
5 | g.90763375C>G | CA360377817 | ADGRV1 | c.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 | |
5 | g.90763375C>T | CA3341170 | ADGRV1 | c.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 |
5 | g.90763376A>C | CA445406589 | ADGRV1 | c.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 | |
5 | g.90763376A>G | CA445406587 | ADGRV1 | c.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 | |
5 | g.90763376A>T | CA445406585 | ADGRV1 | c.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 | |
5 | g.90763377G>A | CA122800389 | ADGRV1 | c.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 |
5 | g.90763377G>C | CA360377827 | ADGRV1 | c.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 | |
5 | g.90763377G= | CA1562889893 | ADGRV1 | c.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= | |
5 | g.90763377G>T | CA360377830 | ADGRV1 | c.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 | |
5 | g.90763378G>A | CA360377840 | ADGRV1 | c.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 | |
5 | g.90763378G>C | CA360377842 | ADGRV1 | c.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 | |
5 | g.90763378G>T | CA360377845 | ADGRV1 | c.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 | |
5 | g.90763379A= | CA1562889894 | ADGRV1 | c.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= | |
5 | g.90763379A>C | CA445406604 | ADGRV1 | c.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 | |
5 | g.90763379A>G | CA3341171 | ADGRV1 | c.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 |
5 | g.90763379A>T | CA3341172 | ADGRV1 | c.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 |
5 | g.90763380G>A | CA3341173 | ADGRV1 | c.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 |
5 | g.90763380G>C | CA360377864 | ADGRV1 | c.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 | |
5 | g.90763380G= | CA1562889895 | ADGRV1 | c.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= | |
5 | g.90763380G>T | CA360377847 | ADGRV1 | c.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 | |
5 | g.90763380_90763393delinsGGAAAAGGAACCGT | CA1562889896 | ADGRV1 | c.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 | |
5 | g.90763381G>A | CA360377870 | ADGRV1 | c.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 |
5 | g.90763381G>C | CA360377875 | ADGRV1 | c.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 | |
5 | g.90763381G>T | CA360377896 | ADGRV1 | c.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 | |
5 | g.90763381_90763393delinsTGGGA | CA658796549 | ADGRV1 | c.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 |
5 | g.90763382A>C | CA445406615 | ADGRV1 | c.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 | |
5 | g.90763382A>G | CA445406624 | ADGRV1 | c.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 |
5 | g.90763382A>T | CA445406628 | ADGRV1 | c.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 | |
5 | g.90763385del | CA2674574480 | ADGRV1 | c.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 |
5 | g.90763383A>C | CA360377904 | ADGRV1 | c.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 | |
5 | g.90763383A>G | CA360377905 | ADGRV1 | c.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 | |
5 | g.90763383A>T | CA360377906 | ADGRV1 | c.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 | |
5 | g.90763384A>C | CA360377913 | ADGRV1 | c.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 | |
5 | g.90763384A>G | CA360377914 | ADGRV1 | c.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 | |
5 | g.90763384A>T | CA360377915 | ADGRV1 | c.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 | |
5 | g.90763385A>C | CA360377917 | ADGRV1 | c.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 |
5 | g.90763385A>G | CA445406652 | ADGRV1 | c.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 | |
5 | g.90763385A>T | CA360377919 | ADGRV1 | c.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 | |
5 | g.90763386G>A | CA3341174 | ADGRV1 | c.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 |
5 | g.90763386G>C | CA360377924 | ADGRV1 | c.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 |
5 | g.90763386G= | CA1562889897 | ADGRV1 | c.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= | |
5 | g.90763386G>T | CA360377927 | ADGRV1 | c.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 | |
5 | g.90763387del | CA2578359791 | ADGRV1 | c.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 | |
5 | g.90763387G>A | CA360377956 | ADGRV1 | c.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 |
5 | g.90763387G>C | CA360377961 | ADGRV1 | c.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 | |
5 | g.90763387G= | CA1562889898 | ADGRV1 | c.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= | |
5 | g.90763387G>T | CA360377944 | ADGRV1 | c.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 | |
5 | g.90763388A= | CA1562889899 | ADGRV1 | c.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= | |
5 | g.90763388A>C | CA445406666 | ADGRV1 | c.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 | |
5 | g.90763388A>G | CA445406673 | ADGRV1 | c.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 |
5 | g.90763388A>T | CA445406680 | ADGRV1 | c.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 | |
5 | g.90763389A>C | CA360377970 | ADGRV1 | c.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 | |
5 | g.90763389A>G | CA360377976 | ADGRV1 | c.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 |
5 | g.90763389A>T | CA360377991 | ADGRV1 | c.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 | |
5 | g.90763390C>A | CA360378029 | ADGRV1 | c.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 | |
5 | g.90763390C>G | CA360378033 | ADGRV1 | c.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 | |
5 | g.90763390C>T | CA360378036 | ADGRV1 | c.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 | |
5 | g.90763391C>A | CA445406706 | ADGRV1 | c.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 | |
5 | g.90763391C= | CA1562889900 | ADGRV1 | c.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= | |
5 | g.90763391C>G | CA445406707 | ADGRV1 | c.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 |
5 | g.90763391C>T | CA176225 | ADGRV1 | c.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 |
5 | g.90763392G>A | CA246506 | ADGRV1 | c.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 |
5 | g.90763392G>C | CA360378042 | ADGRV1 | c.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 | |
5 | g.90763392G= | CA1562889901 | ADGRV1 | c.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= | |
5 | g.90763392G>T | CA360378049 | ADGRV1 | c.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 |
5 | g.90763393T>A | CA360378052 | ADGRV1 | c.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 |
5 | g.90763393T>C | CA360378054 | ADGRV1 | c.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 |
5 | g.90763393T>G | CA360378058 | ADGRV1 | c.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 | |
5 | g.90763393dup | CA561260037 | ADGRV1 | c.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 |
5 | g.90763393_90763394delinsTC | CA1562889902 | ADGRV1 | c.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 | |
5 | g.90763394C>A | CA445406726 | ADGRV1 | c.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 | |
5 | g.90763394C>G | CA445406727 | ADGRV1 | c.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 | |
5 | g.90763394C>T | CA445406728 | ADGRV1 | c.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 |
5 | g.90763395del | CA1562889903 | ADGRV1 | c.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 |
5 | g.90763395C>A | CA445406731 | ADGRV1 | c.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 | |
5 | g.90763395C= | CA1562889904 | ADGRV1 | c.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= | |
5 | g.90763395C>G | CA360378084 | ADGRV1 | c.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 | |
5 | g.90763395C>T | CA360378075 | ADGRV1 | c.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 |
5 | g.90763396G>A | CA182191 | ADGRV1 | c.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 |
5 | g.90763396G>C | CA360378097 | ADGRV1 | c.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 | |
5 | g.90763396G= | CA1562889905 | ADGRV1 | c.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= | |
5 | g.90763396G>T | CA360378102 | ADGRV1 | c.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 |
5 | g.90763397A>C | CA445406746 | ADGRV1 | c.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 | |
5 | g.90763397A>G | CA445406748 | ADGRV1 | c.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 |
5 | g.90763397A>T | CA445406747 | ADGRV1 | c.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 | |
5 | g.90763398C>A | CA360378107 | ADGRV1 | c.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 | |
5 | g.90763398C= | CA1562889906 | ADGRV1 | c.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= | |
5 | g.90763398C>G | CA360378108 | ADGRV1 | c.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 |
5 | g.90763398C>T | CA360378109 | ADGRV1 | c.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 | |
5 | g.90763399T>A | CA360378110 | ADGRV1 | c.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 | |
5 | g.90763399T>C | CA360378112 | ADGRV1 | c.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 | |
5 | g.90763399T>G | CA360378114 | ADGRV1 | c.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 | |
5 | g.90763400T>A | CA445406763 | ADGRV1 | c.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 | |
5 | g.90763400T>C | CA445406765 | ADGRV1 | c.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 | |
5 | g.90763400T>G | CA445406770 | ADGRV1 | c.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 | |
5 | g.90763401del | CA2674574501 | ADGRV1 | c.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 |
5 | g.90763401G>A | CA360378116 | ADGRV1 | c.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 | |
5 | g.90763401G>C | CA3341175 | ADGRV1 | c.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 |
5 | g.90763401G= | CA1562889907 | ADGRV1 | c.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= | |
5 | g.90763401G>T | CA360378124 | ADGRV1 | c.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 | |
5 | g.90763402A>C | CA360378132 | ADGRV1 | c.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 | |
5 | g.90763402A>G | CA360378157 | ADGRV1 | c.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 | |
5 | g.90763402A>T | CA360378149 | ADGRV1 | c.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 | |
5 | g.90763403G>A | CA445406794 | ADGRV1 | c.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 |
5 | g.90763403G>C | CA360378158 | ADGRV1 | c.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 | |
5 | g.90763403G>T | CA360378159 | ADGRV1 | c.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 |
5 | g.90763404T>A | CA360378163 | ADGRV1 | c.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 | |
5 | g.90763404T>C | CA360378167 | ADGRV1 | c.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 |
5 | g.90763404T>G | CA360378175 | ADGRV1 | c.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 | |
5 | g.90763405G>A | CA360378184 | ADGRV1 | c.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 | |
5 | g.90763405G>C | CA360378177 | ADGRV1 | c.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 | |
5 | g.90763405G>T | CA360378176 | ADGRV1 | c.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 | |
5 | g.90763405_90763408dup | CA2767420957 | ADGRV1 | c.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 | |
5 | g.90763406G>A | CA360378190 | ADGRV1 | c.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 |
5 | g.90763406G>C | CA360378198 | ADGRV1 | c.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 | |
5 | g.90763406G= | CA1562889908 | ADGRV1 | c.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= | |
5 | g.90763406G>T | CA360378226 | ADGRV1 | c.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 | |
5 | g.90763407A>C | CA360378235 | ADGRV1 | c.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 | |
5 | g.90763407A>G | CA360378246 | ADGRV1 | c.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 | |
5 | g.90763407A>T | CA360378250 | ADGRV1 | c.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 | |
5 | g.90763408C>A | CA360378279 | ADGRV1 | c.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 | |
5 | g.90763408C= | CA1562889909 | ADGRV1 | c.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= | |
5 | g.90763408C>G | CA360378257 | ADGRV1 | c.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 | |
5 | g.90763408C>T | CA3341176 | ADGRV1 | c.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 |
5 | g.90763409C>A | CA445406837 | ADGRV1 | c.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 | |
5 | g.90763409C>G | CA445406839 | ADGRV1 | c.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 | |
5 | g.90763409C>T | CA445406838 | ADGRV1 | c.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 | |
5 | g.90763409_90763410insGTAG | CA2674574506 | ADGRV1 | c.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 |
5 | g.90763410A= | CA1562889910 | ADGRV1 | c.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= | |
5 | g.90763410A>C | CA360378285 | ADGRV1 | c.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 |
5 | g.90763410A>G | CA360378289 | ADGRV1 | c.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 |
5 | g.90763410A>T | CA360378291 | ADGRV1 | c.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 | |
5 | g.90763410_90763411delinsGTAGATGAGAGTAGATG | CA2695204644 | ADGRV1 | c.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 |
5 | g.90763411T>A | CA360378295 | ADGRV1 | c.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 | |
5 | g.90763411T>C | CA360378296 | ADGRV1 | c.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 |
5 | g.90763411T>G | CA360378300 | ADGRV1 | c.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 | |
5 | g.90763411_90763412insGAGAGTAGATG | CA2674574512 | ADGRV1 | c.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 |
5 | g.90763412A= | CA1562889911 | ADGRV1 | c.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= | |
5 | g.90763412A>C | CA445406851 | ADGRV1 | c.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 |
5 | g.90763412A>G | CA360378308 | ADGRV1 | c.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 |
5 | g.90763412A>T | CA445406853 | ADGRV1 | c.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 | |
5 | g.90763413G>A | CA360378335 | ADGRV1 | c.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 | |
5 | g.90763413G>C | CA360378345 | ADGRV1 | c.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 |
5 | g.90763413G>T | CA360378356 | ADGRV1 | c.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 | |
5 | g.90763414A>C | CA360378357 | ADGRV1 | c.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 | |
5 | g.90763414A>G | CA360378358 | ADGRV1 | c.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 | |
5 | g.90763414A>T | CA360378360 | ADGRV1 | c.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 | |
5 | g.90763415T>A | CA360378387 | ADGRV1 | c.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 | |
5 | g.90763415T>C | CA122800401 | ADGRV1 | c.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 |
5 | g.90763415T>G | CA360378380 | ADGRV1 | c.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 | |
5 | g.90763415T= | CA1562889912 | ADGRV1 | c.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= | |
5 | g.90763416G>A | CA360378397 | ADGRV1 | c.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 | |
5 | g.90763416G>C | CA360378399 | ADGRV1 | c.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 | |
5 | g.90763416G>T | CA360378406 | ADGRV1 | c.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 | |
5 | g.90763417A>C | CA360378410 | ADGRV1 | c.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 | |
5 | g.90763417A>G | CA360378412 | ADGRV1 | c.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 | |
5 | g.90763417A>T | CA360378415 | ADGRV1 | c.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 | |
5 | g.90763418G>A | CA445406904 | ADGRV1 | c.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 | |
5 | g.90763418G>C | CA360378420 | ADGRV1 | c.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 | |
5 | g.90763418G>T | CA360378423 | ADGRV1 | c.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 | |
5 | g.90763419A= | CA1562889913 | ADGRV1 | c.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= | |
5 | g.90763419A>C | CA360378427 | ADGRV1 | c.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 | |
5 | g.90763419A>G | CA3341177 | ADGRV1 | c.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 |
5 | g.90763419A>T | CA360378432 | ADGRV1 | c.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 |