Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90810742_90810746del | CA2674577083 | ADGRV1 | c.15482_15486del (p.Leu5161HisfsTer19) c.4436_4440del (p.Leu1479HisfsTer19) n.2749_2753del c.265+134533_265+134537del (n.265+134533_265+134537del) c.1892_1896del (p.Leu631HisfsTer19) c.2465_2469del (p.Leu822HisfsTer19) n.15495_15499del c.15479_15483del (p.Leu5160HisfsTer19) c.15401_15405del (p.Leu5134HisfsTer19) c.12785_12789del (p.Leu4262HisfsTer19) c.15503_15507del (p.Leu5168HisfsTer19) c.15500_15504del (p.Leu5167HisfsTer19) c.15422_15426del (p.Leu5141HisfsTer19) c.15407_15411del (p.Leu5136HisfsTer19) c.15323_15327del (p.Leu5108HisfsTer19) c.*436_*440del (n.*436_*440del) c.8621_8625del (p.Leu2874HisfsTer19) c.8600_8604del (p.Leu2867HisfsTer19) n.15498_15502del | gnomAD v4 |
5 | g.90810743C>A | CA445468379 | ADGRV1 | c.15483C>A (p.Leu5161=) c.4437C>A (p.Leu1479=) n.2750C>A c.265+134534C>A (n.265+134534C>A) c.1893C>A (p.Leu631=) c.2466C>A (p.Leu822=) n.15496C>A c.15480C>A (p.Leu5160=) c.15402C>A (p.Leu5134=) c.12786C>A (p.Leu4262=) c.15504C>A (p.Leu5168=) c.15501C>A (p.Leu5167=) c.15423C>A (p.Leu5141=) c.15408C>A (p.Leu5136=) c.15324C>A (p.Leu5108=) c.*437C>A (n.*437C>A) c.8622C>A (p.Leu2874=) c.8601C>A (p.Leu2867=) n.15499C>A | |
5 | g.90810743C>G | CA445468381 | ADGRV1 | c.15483C>G (p.Leu5161=) c.4437C>G (p.Leu1479=) n.2750C>G c.265+134534C>G (n.265+134534C>G) c.1893C>G (p.Leu631=) c.2466C>G (p.Leu822=) n.15496C>G c.15480C>G (p.Leu5160=) c.15402C>G (p.Leu5134=) c.12786C>G (p.Leu4262=) c.15504C>G (p.Leu5168=) c.15501C>G (p.Leu5167=) c.15423C>G (p.Leu5141=) c.15408C>G (p.Leu5136=) c.15324C>G (p.Leu5108=) c.*437C>G (n.*437C>G) c.8622C>G (p.Leu2874=) c.8601C>G (p.Leu2867=) n.15499C>G | |
5 | g.90810743C>T | CA445468378 | ADGRV1 | c.15483C>T (p.Leu5161=) c.4437C>T (p.Leu1479=) n.2750C>T c.265+134534C>T (n.265+134534C>T) c.1893C>T (p.Leu631=) c.2466C>T (p.Leu822=) n.15496C>T c.15480C>T (p.Leu5160=) c.15402C>T (p.Leu5134=) c.12786C>T (p.Leu4262=) c.15504C>T (p.Leu5168=) c.15501C>T (p.Leu5167=) c.15423C>T (p.Leu5141=) c.15408C>T (p.Leu5136=) c.15324C>T (p.Leu5108=) c.*437C>T (n.*437C>T) c.8622C>T (p.Leu2874=) c.8601C>T (p.Leu2867=) n.15499C>T | |
5 | g.90810744A>C | CA360409717 | ADGRV1 | c.15484A>C (p.Ser5162Arg) c.4438A>C (p.Ser1480Arg) n.2751A>C c.265+134535A>C (n.265+134535A>C) c.1894A>C (p.Ser632Arg) c.2467A>C (p.Ser823Arg) n.15497A>C c.15481A>C (p.Ser5161Arg) c.15403A>C (p.Ser5135Arg) c.12787A>C (p.Ser4263Arg) c.15505A>C (p.Ser5169Arg) c.15502A>C (p.Ser5168Arg) c.15424A>C (p.Ser5142Arg) c.15409A>C (p.Ser5137Arg) c.15325A>C (p.Ser5109Arg) c.*438A>C (n.*438A>C) c.8623A>C (p.Ser2875Arg) c.8602A>C (p.Ser2868Arg) n.15500A>C | |
5 | g.90810744A>G | CA360409718 | ADGRV1 | c.15484A>G (p.Ser5162Gly) c.4438A>G (p.Ser1480Gly) n.2751A>G c.265+134535A>G (n.265+134535A>G) c.1894A>G (p.Ser632Gly) c.2467A>G (p.Ser823Gly) n.15497A>G c.15481A>G (p.Ser5161Gly) c.15403A>G (p.Ser5135Gly) c.12787A>G (p.Ser4263Gly) c.15505A>G (p.Ser5169Gly) c.15502A>G (p.Ser5168Gly) c.15424A>G (p.Ser5142Gly) c.15409A>G (p.Ser5137Gly) c.15325A>G (p.Ser5109Gly) c.*438A>G (n.*438A>G) c.8623A>G (p.Ser2875Gly) c.8602A>G (p.Ser2868Gly) n.15500A>G | gnomAD v4 |
5 | g.90810744A>T | CA360409719 | ADGRV1 | c.15484A>T (p.Ser5162Cys) c.4438A>T (p.Ser1480Cys) n.2751A>T c.265+134535A>T (n.265+134535A>T) c.1894A>T (p.Ser632Cys) c.2467A>T (p.Ser823Cys) n.15497A>T c.15481A>T (p.Ser5161Cys) c.15403A>T (p.Ser5135Cys) c.12787A>T (p.Ser4263Cys) c.15505A>T (p.Ser5169Cys) c.15502A>T (p.Ser5168Cys) c.15424A>T (p.Ser5142Cys) c.15409A>T (p.Ser5137Cys) c.15325A>T (p.Ser5109Cys) c.*438A>T (n.*438A>T) c.8623A>T (p.Ser2875Cys) c.8602A>T (p.Ser2868Cys) n.15500A>T | |
5 | g.90810745G>A | CA3341929 | ADGRV1 | c.15485G>A (p.Ser5162Asn) c.4439G>A (p.Ser1480Asn) n.2752G>A c.265+134536G>A (n.265+134536G>A) c.1895G>A (p.Ser632Asn) c.2468G>A (p.Ser823Asn) n.15498G>A c.15482G>A (p.Ser5161Asn) c.15404G>A (p.Ser5135Asn) c.12788G>A (p.Ser4263Asn) c.15506G>A (p.Ser5169Asn) c.15503G>A (p.Ser5168Asn) c.15425G>A (p.Ser5142Asn) c.15410G>A (p.Ser5137Asn) c.15326G>A (p.Ser5109Asn) c.*439G>A (n.*439G>A) c.8624G>A (p.Ser2875Asn) c.8603G>A (p.Ser2868Asn) n.15501G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90810745G>C | CA360409728 | ADGRV1 | c.15485G>C (p.Ser5162Thr) c.4439G>C (p.Ser1480Thr) n.2752G>C c.265+134536G>C (n.265+134536G>C) c.1895G>C (p.Ser632Thr) c.2468G>C (p.Ser823Thr) n.15498G>C c.15482G>C (p.Ser5161Thr) c.15404G>C (p.Ser5135Thr) c.12788G>C (p.Ser4263Thr) c.15506G>C (p.Ser5169Thr) c.15503G>C (p.Ser5168Thr) c.15425G>C (p.Ser5142Thr) c.15410G>C (p.Ser5137Thr) c.15326G>C (p.Ser5109Thr) c.*439G>C (n.*439G>C) c.8624G>C (p.Ser2875Thr) c.8603G>C (p.Ser2868Thr) n.15501G>C | |
5 | g.90810745G= | CA1562911513 | ADGRV1 | c.15485G= (p.Ser5162=) c.4439G= (p.Ser1480=) n.2752G= c.265+134536G= (n.265+134536G=) c.1895G= (p.Ser632=) c.2468G= (p.Ser823=) n.15498G= c.15482G= (p.Ser5161=) c.15404G= (p.Ser5135=) c.12788G= (p.Ser4263=) c.15506G= (p.Ser5169=) c.15503G= (p.Ser5168=) c.15425G= (p.Ser5142=) c.15410G= (p.Ser5137=) c.15326G= (p.Ser5109=) c.*439G= (n.*439G=) c.8624G= (p.Ser2875=) c.8603G= (p.Ser2868=) n.15501G= | |
5 | g.90810745G>T | CA360409724 | ADGRV1 | c.15485G>T (p.Ser5162Ile) c.4439G>T (p.Ser1480Ile) n.2752G>T c.265+134536G>T (n.265+134536G>T) c.1895G>T (p.Ser632Ile) c.2468G>T (p.Ser823Ile) n.15498G>T c.15482G>T (p.Ser5161Ile) c.15404G>T (p.Ser5135Ile) c.12788G>T (p.Ser4263Ile) c.15506G>T (p.Ser5169Ile) c.15503G>T (p.Ser5168Ile) c.15425G>T (p.Ser5142Ile) c.15410G>T (p.Ser5137Ile) c.15326G>T (p.Ser5109Ile) c.*439G>T (n.*439G>T) c.8624G>T (p.Ser2875Ile) c.8603G>T (p.Ser2868Ile) n.15501G>T | |
5 | g.90810746C>A | CA360409729 | ADGRV1 | c.15486C>A (p.Ser5162Arg) c.4440C>A (p.Ser1480Arg) n.2753C>A c.265+134537C>A (n.265+134537C>A) c.1896C>A (p.Ser632Arg) c.2469C>A (p.Ser823Arg) n.15499C>A c.15483C>A (p.Ser5161Arg) c.15405C>A (p.Ser5135Arg) c.12789C>A (p.Ser4263Arg) c.15507C>A (p.Ser5169Arg) c.15504C>A (p.Ser5168Arg) c.15426C>A (p.Ser5142Arg) c.15411C>A (p.Ser5137Arg) c.15327C>A (p.Ser5109Arg) c.*440C>A (n.*440C>A) c.8625C>A (p.Ser2875Arg) c.8604C>A (p.Ser2868Arg) n.15502C>A | |
5 | g.90810746C>G | CA360409731 | ADGRV1 | c.15486C>G (p.Ser5162Arg) c.4440C>G (p.Ser1480Arg) n.2753C>G c.265+134537C>G (n.265+134537C>G) c.1896C>G (p.Ser632Arg) c.2469C>G (p.Ser823Arg) n.15499C>G c.15483C>G (p.Ser5161Arg) c.15405C>G (p.Ser5135Arg) c.12789C>G (p.Ser4263Arg) c.15507C>G (p.Ser5169Arg) c.15504C>G (p.Ser5168Arg) c.15426C>G (p.Ser5142Arg) c.15411C>G (p.Ser5137Arg) c.15327C>G (p.Ser5109Arg) c.*440C>G (n.*440C>G) c.8625C>G (p.Ser2875Arg) c.8604C>G (p.Ser2868Arg) n.15502C>G | |
5 | g.90810746C>T | CA445468389 | ADGRV1 | c.15486C>T (p.Ser5162=) c.4440C>T (p.Ser1480=) n.2753C>T c.265+134537C>T (n.265+134537C>T) c.1896C>T (p.Ser632=) c.2469C>T (p.Ser823=) n.15499C>T c.15483C>T (p.Ser5161=) c.15405C>T (p.Ser5135=) c.12789C>T (p.Ser4263=) c.15507C>T (p.Ser5169=) c.15504C>T (p.Ser5168=) c.15426C>T (p.Ser5142=) c.15411C>T (p.Ser5137=) c.15327C>T (p.Ser5109=) c.*440C>T (n.*440C>T) c.8625C>T (p.Ser2875=) c.8604C>T (p.Ser2868=) n.15502C>T | |
5 | g.90810747A>C | CA360409732 | ADGRV1 | c.15487A>C (p.Thr5163Pro) c.4441A>C (p.Thr1481Pro) n.2754A>C c.265+134538A>C (n.265+134538A>C) c.1897A>C (p.Thr633Pro) c.2470A>C (p.Thr824Pro) n.15500A>C c.15484A>C (p.Thr5162Pro) c.15406A>C (p.Thr5136Pro) c.12790A>C (p.Thr4264Pro) c.15508A>C (p.Thr5170Pro) c.15505A>C (p.Thr5169Pro) c.15427A>C (p.Thr5143Pro) c.15412A>C (p.Thr5138Pro) c.15328A>C (p.Thr5110Pro) c.*441A>C (n.*441A>C) c.8626A>C (p.Thr2876Pro) c.8605A>C (p.Thr2869Pro) n.15503A>C | |
5 | g.90810747A>G | CA360409733 | ADGRV1 | c.15487A>G (p.Thr5163Ala) c.4441A>G (p.Thr1481Ala) n.2754A>G c.265+134538A>G (n.265+134538A>G) c.1897A>G (p.Thr633Ala) c.2470A>G (p.Thr824Ala) n.15500A>G c.15484A>G (p.Thr5162Ala) c.15406A>G (p.Thr5136Ala) c.12790A>G (p.Thr4264Ala) c.15508A>G (p.Thr5170Ala) c.15505A>G (p.Thr5169Ala) c.15427A>G (p.Thr5143Ala) c.15412A>G (p.Thr5138Ala) c.15328A>G (p.Thr5110Ala) c.*441A>G (n.*441A>G) c.8626A>G (p.Thr2876Ala) c.8605A>G (p.Thr2869Ala) n.15503A>G | gnomAD v4 |
5 | g.90810747A>T | CA360409734 | ADGRV1 | c.15487A>T (p.Thr5163Ser) c.4441A>T (p.Thr1481Ser) n.2754A>T c.265+134538A>T (n.265+134538A>T) c.1897A>T (p.Thr633Ser) c.2470A>T (p.Thr824Ser) n.15500A>T c.15484A>T (p.Thr5162Ser) c.15406A>T (p.Thr5136Ser) c.12790A>T (p.Thr4264Ser) c.15508A>T (p.Thr5170Ser) c.15505A>T (p.Thr5169Ser) c.15427A>T (p.Thr5143Ser) c.15412A>T (p.Thr5138Ser) c.15328A>T (p.Thr5110Ser) c.*441A>T (n.*441A>T) c.8626A>T (p.Thr2876Ser) c.8605A>T (p.Thr2869Ser) n.15503A>T | |
5 | g.90810748C>A | CA360409738 | ADGRV1 | c.15488C>A (p.Thr5163Lys) c.4442C>A (p.Thr1481Lys) n.2755C>A c.265+134539C>A (n.265+134539C>A) c.1898C>A (p.Thr633Lys) c.2471C>A (p.Thr824Lys) n.15501C>A c.15485C>A (p.Thr5162Lys) c.15407C>A (p.Thr5136Lys) c.12791C>A (p.Thr4264Lys) c.15509C>A (p.Thr5170Lys) c.15506C>A (p.Thr5169Lys) c.15428C>A (p.Thr5143Lys) c.15413C>A (p.Thr5138Lys) c.15329C>A (p.Thr5110Lys) c.*442C>A (n.*442C>A) c.8627C>A (p.Thr2876Lys) c.8606C>A (p.Thr2869Lys) n.15504C>A | |
5 | g.90810748C= | CA1562911514 | ADGRV1 | c.15488C= (p.Thr5163=) c.4442C= (p.Thr1481=) n.2755C= c.265+134539C= (n.265+134539C=) c.1898C= (p.Thr633=) c.2471C= (p.Thr824=) n.15501C= c.15485C= (p.Thr5162=) c.15407C= (p.Thr5136=) c.12791C= (p.Thr4264=) c.15509C= (p.Thr5170=) c.15506C= (p.Thr5169=) c.15428C= (p.Thr5143=) c.15413C= (p.Thr5138=) c.15329C= (p.Thr5110=) c.*442C= (n.*442C=) c.8627C= (p.Thr2876=) c.8606C= (p.Thr2869=) n.15504C= | |
5 | g.90810748C>G | CA360409739 | ADGRV1 | c.15488C>G (p.Thr5163Arg) c.4442C>G (p.Thr1481Arg) n.2755C>G c.265+134539C>G (n.265+134539C>G) c.1898C>G (p.Thr633Arg) c.2471C>G (p.Thr824Arg) n.15501C>G c.15485C>G (p.Thr5162Arg) c.15407C>G (p.Thr5136Arg) c.12791C>G (p.Thr4264Arg) c.15509C>G (p.Thr5170Arg) c.15506C>G (p.Thr5169Arg) c.15428C>G (p.Thr5143Arg) c.15413C>G (p.Thr5138Arg) c.15329C>G (p.Thr5110Arg) c.*442C>G (n.*442C>G) c.8627C>G (p.Thr2876Arg) c.8606C>G (p.Thr2869Arg) n.15504C>G | gnomAD v4 |
5 | g.90810748C>T | CA360409736 | ADGRV1 | c.15488C>T (p.Thr5163Ile) c.4442C>T (p.Thr1481Ile) n.2755C>T c.265+134539C>T (n.265+134539C>T) c.1898C>T (p.Thr633Ile) c.2471C>T (p.Thr824Ile) n.15501C>T c.15485C>T (p.Thr5162Ile) c.15407C>T (p.Thr5136Ile) c.12791C>T (p.Thr4264Ile) c.15509C>T (p.Thr5170Ile) c.15506C>T (p.Thr5169Ile) c.15428C>T (p.Thr5143Ile) c.15413C>T (p.Thr5138Ile) c.15329C>T (p.Thr5110Ile) c.*442C>T (n.*442C>T) c.8627C>T (p.Thr2876Ile) c.8606C>T (p.Thr2869Ile) n.15504C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90810749A= | CA1562911515 | ADGRV1 | c.15489A= (p.Thr5163=) c.4443A= (p.Thr1481=) n.2756A= c.265+134540A= (n.265+134540A=) c.1899A= (p.Thr633=) c.2472A= (p.Thr824=) n.15502A= c.15486A= (p.Thr5162=) c.15408A= (p.Thr5136=) c.12792A= (p.Thr4264=) c.15510A= (p.Thr5170=) c.15507A= (p.Thr5169=) c.15429A= (p.Thr5143=) c.15414A= (p.Thr5138=) c.15330A= (p.Thr5110=) c.*443A= (n.*443A=) c.8628A= (p.Thr2876=) c.8607A= (p.Thr2869=) n.15505A= | |
5 | g.90810749A>C | CA445468400 | ADGRV1 | c.15489A>C (p.Thr5163=) c.4443A>C (p.Thr1481=) n.2756A>C c.265+134540A>C (n.265+134540A>C) c.1899A>C (p.Thr633=) c.2472A>C (p.Thr824=) n.15502A>C c.15486A>C (p.Thr5162=) c.15408A>C (p.Thr5136=) c.12792A>C (p.Thr4264=) c.15510A>C (p.Thr5170=) c.15507A>C (p.Thr5169=) c.15429A>C (p.Thr5143=) c.15414A>C (p.Thr5138=) c.15330A>C (p.Thr5110=) c.*443A>C (n.*443A>C) c.8628A>C (p.Thr2876=) c.8607A>C (p.Thr2869=) n.15505A>C | |
5 | g.90810749A>G | CA122821791 | ADGRV1 | c.15489A>G (p.Thr5163=) c.4443A>G (p.Thr1481=) n.2756A>G c.265+134540A>G (n.265+134540A>G) c.1899A>G (p.Thr633=) c.2472A>G (p.Thr824=) n.15502A>G c.15486A>G (p.Thr5162=) c.15408A>G (p.Thr5136=) c.12792A>G (p.Thr4264=) c.15510A>G (p.Thr5170=) c.15507A>G (p.Thr5169=) c.15429A>G (p.Thr5143=) c.15414A>G (p.Thr5138=) c.15330A>G (p.Thr5110=) c.*443A>G (n.*443A>G) c.8628A>G (p.Thr2876=) c.8607A>G (p.Thr2869=) n.15505A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810749A>T | CA445468398 | ADGRV1 | c.15489A>T (p.Thr5163=) c.4443A>T (p.Thr1481=) n.2756A>T c.265+134540A>T (n.265+134540A>T) c.1899A>T (p.Thr633=) c.2472A>T (p.Thr824=) n.15502A>T c.15486A>T (p.Thr5162=) c.15408A>T (p.Thr5136=) c.12792A>T (p.Thr4264=) c.15510A>T (p.Thr5170=) c.15507A>T (p.Thr5169=) c.15429A>T (p.Thr5143=) c.15414A>T (p.Thr5138=) c.15330A>T (p.Thr5110=) c.*443A>T (n.*443A>T) c.8628A>T (p.Thr2876=) c.8607A>T (p.Thr2869=) n.15505A>T | |
5 | g.90810750A>C | CA360409740 | ADGRV1 | c.15490A>C (p.Ser5164Arg) c.4444A>C (p.Ser1482Arg) n.2757A>C c.265+134541A>C (n.265+134541A>C) c.1900A>C (p.Ser634Arg) c.2473A>C (p.Ser825Arg) n.15503A>C c.15487A>C (p.Ser5163Arg) c.15409A>C (p.Ser5137Arg) c.12793A>C (p.Ser4265Arg) c.15511A>C (p.Ser5171Arg) c.15508A>C (p.Ser5170Arg) c.15430A>C (p.Ser5144Arg) c.15415A>C (p.Ser5139Arg) c.15331A>C (p.Ser5111Arg) c.*444A>C (n.*444A>C) c.8629A>C (p.Ser2877Arg) c.8608A>C (p.Ser2870Arg) n.15506A>C | |
5 | g.90810750A>G | CA360409741 | ADGRV1 | c.15490A>G (p.Ser5164Gly) c.4444A>G (p.Ser1482Gly) n.2757A>G c.265+134541A>G (n.265+134541A>G) c.1900A>G (p.Ser634Gly) c.2473A>G (p.Ser825Gly) n.15503A>G c.15487A>G (p.Ser5163Gly) c.15409A>G (p.Ser5137Gly) c.12793A>G (p.Ser4265Gly) c.15511A>G (p.Ser5171Gly) c.15508A>G (p.Ser5170Gly) c.15430A>G (p.Ser5144Gly) c.15415A>G (p.Ser5139Gly) c.15331A>G (p.Ser5111Gly) c.*444A>G (n.*444A>G) c.8629A>G (p.Ser2877Gly) c.8608A>G (p.Ser2870Gly) n.15506A>G | |
5 | g.90810750A>T | CA360409745 | ADGRV1 | c.15490A>T (p.Ser5164Cys) c.4444A>T (p.Ser1482Cys) n.2757A>T c.265+134541A>T (n.265+134541A>T) c.1900A>T (p.Ser634Cys) c.2473A>T (p.Ser825Cys) n.15503A>T c.15487A>T (p.Ser5163Cys) c.15409A>T (p.Ser5137Cys) c.12793A>T (p.Ser4265Cys) c.15511A>T (p.Ser5171Cys) c.15508A>T (p.Ser5170Cys) c.15430A>T (p.Ser5144Cys) c.15415A>T (p.Ser5139Cys) c.15331A>T (p.Ser5111Cys) c.*444A>T (n.*444A>T) c.8629A>T (p.Ser2877Cys) c.8608A>T (p.Ser2870Cys) n.15506A>T | |
5 | g.90810751G>A | CA360409748 | ADGRV1 | c.15491G>A (p.Ser5164Asn) c.4445G>A (p.Ser1482Asn) n.2758G>A c.265+134542G>A (n.265+134542G>A) c.1901G>A (p.Ser634Asn) c.2474G>A (p.Ser825Asn) n.15504G>A c.15488G>A (p.Ser5163Asn) c.15410G>A (p.Ser5137Asn) c.12794G>A (p.Ser4265Asn) c.15512G>A (p.Ser5171Asn) c.15509G>A (p.Ser5170Asn) c.15431G>A (p.Ser5144Asn) c.15416G>A (p.Ser5139Asn) c.15332G>A (p.Ser5111Asn) c.*445G>A (n.*445G>A) c.8630G>A (p.Ser2877Asn) c.8609G>A (p.Ser2870Asn) n.15507G>A | |
5 | g.90810751G>C | CA360409752 | ADGRV1 | c.15491G>C (p.Ser5164Thr) c.4445G>C (p.Ser1482Thr) n.2758G>C c.265+134542G>C (n.265+134542G>C) c.1901G>C (p.Ser634Thr) c.2474G>C (p.Ser825Thr) n.15504G>C c.15488G>C (p.Ser5163Thr) c.15410G>C (p.Ser5137Thr) c.12794G>C (p.Ser4265Thr) c.15512G>C (p.Ser5171Thr) c.15509G>C (p.Ser5170Thr) c.15431G>C (p.Ser5144Thr) c.15416G>C (p.Ser5139Thr) c.15332G>C (p.Ser5111Thr) c.*445G>C (n.*445G>C) c.8630G>C (p.Ser2877Thr) c.8609G>C (p.Ser2870Thr) n.15507G>C | |
5 | g.90810751G= | CA1562911516 | ADGRV1 | c.15491G= (p.Ser5164=) c.4445G= (p.Ser1482=) n.2758G= c.265+134542G= (n.265+134542G=) c.1901G= (p.Ser634=) c.2474G= (p.Ser825=) n.15504G= c.15488G= (p.Ser5163=) c.15410G= (p.Ser5137=) c.12794G= (p.Ser4265=) c.15512G= (p.Ser5171=) c.15509G= (p.Ser5170=) c.15431G= (p.Ser5144=) c.15416G= (p.Ser5139=) c.15332G= (p.Ser5111=) c.*445G= (n.*445G=) c.8630G= (p.Ser2877=) c.8609G= (p.Ser2870=) n.15507G= | |
5 | g.90810751G>T | CA360409754 | ADGRV1 | c.15491G>T (p.Ser5164Ile) c.4445G>T (p.Ser1482Ile) n.2758G>T c.265+134542G>T (n.265+134542G>T) c.1901G>T (p.Ser634Ile) c.2474G>T (p.Ser825Ile) n.15504G>T c.15488G>T (p.Ser5163Ile) c.15410G>T (p.Ser5137Ile) c.12794G>T (p.Ser4265Ile) c.15512G>T (p.Ser5171Ile) c.15509G>T (p.Ser5170Ile) c.15431G>T (p.Ser5144Ile) c.15416G>T (p.Ser5139Ile) c.15332G>T (p.Ser5111Ile) c.*445G>T (n.*445G>T) c.8630G>T (p.Ser2877Ile) c.8609G>T (p.Ser2870Ile) n.15507G>T | dbSNP |
5 | g.90810752C>A | CA360409757 | ADGRV1 | c.15492C>A (p.Ser5164Arg) c.4446C>A (p.Ser1482Arg) n.2759C>A c.265+134543C>A (n.265+134543C>A) c.1902C>A (p.Ser634Arg) c.2475C>A (p.Ser825Arg) n.15505C>A c.15489C>A (p.Ser5163Arg) c.15411C>A (p.Ser5137Arg) c.12795C>A (p.Ser4265Arg) c.15513C>A (p.Ser5171Arg) c.15510C>A (p.Ser5170Arg) c.15432C>A (p.Ser5144Arg) c.15417C>A (p.Ser5139Arg) c.15333C>A (p.Ser5111Arg) c.*446C>A (n.*446C>A) c.8631C>A (p.Ser2877Arg) c.8610C>A (p.Ser2870Arg) n.15508C>A | ClinVar dbSNP |
5 | g.90810752C= | CA1562911517 | ADGRV1 | c.15492C= (p.Ser5164=) c.4446C= (p.Ser1482=) n.2759C= c.265+134543C= (n.265+134543C=) c.1902C= (p.Ser634=) c.2475C= (p.Ser825=) n.15505C= c.15489C= (p.Ser5163=) c.15411C= (p.Ser5137=) c.12795C= (p.Ser4265=) c.15513C= (p.Ser5171=) c.15510C= (p.Ser5170=) c.15432C= (p.Ser5144=) c.15417C= (p.Ser5139=) c.15333C= (p.Ser5111=) c.*446C= (n.*446C=) c.8631C= (p.Ser2877=) c.8610C= (p.Ser2870=) n.15508C= | |
5 | g.90810752C>G | CA360409759 | ADGRV1 | c.15492C>G (p.Ser5164Arg) c.4446C>G (p.Ser1482Arg) n.2759C>G c.265+134543C>G (n.265+134543C>G) c.1902C>G (p.Ser634Arg) c.2475C>G (p.Ser825Arg) n.15505C>G c.15489C>G (p.Ser5163Arg) c.15411C>G (p.Ser5137Arg) c.12795C>G (p.Ser4265Arg) c.15513C>G (p.Ser5171Arg) c.15510C>G (p.Ser5170Arg) c.15432C>G (p.Ser5144Arg) c.15417C>G (p.Ser5139Arg) c.15333C>G (p.Ser5111Arg) c.*446C>G (n.*446C>G) c.8631C>G (p.Ser2877Arg) c.8610C>G (p.Ser2870Arg) n.15508C>G | |
5 | g.90810752C>T | CA3341930 | ADGRV1 | c.15492C>T (p.Ser5164=) c.4446C>T (p.Ser1482=) n.2759C>T c.265+134543C>T (n.265+134543C>T) c.1902C>T (p.Ser634=) c.2475C>T (p.Ser825=) n.15505C>T c.15489C>T (p.Ser5163=) c.15411C>T (p.Ser5137=) c.12795C>T (p.Ser4265=) c.15513C>T (p.Ser5171=) c.15510C>T (p.Ser5170=) c.15432C>T (p.Ser5144=) c.15417C>T (p.Ser5139=) c.15333C>T (p.Ser5111=) c.*446C>T (n.*446C>T) c.8631C>T (p.Ser2877=) c.8610C>T (p.Ser2870=) n.15508C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90810752_90810753delinsCA | CA1562911518 | ADGRV1 | c.15492_15493delinsCA (p.Ser5164=) c.4446_4447delinsCA (p.Ser1482=) n.2759_2760delinsCA c.265+134543_265+134544delinsCA (n.265+134543_265+134544delinsCA) c.1902_1903delinsCA (p.Ser634=) c.2475_2476delinsCA (p.Ser825=) n.15505_15506delinsCA c.15489_15490delinsCA (p.Ser5163=) c.15411_15412delinsCA (p.Ser5137=) c.12795_12796delinsCA (p.Ser4265=) c.15513_15514delinsCA (p.Ser5171=) c.15510_15511delinsCA (p.Ser5170=) c.15432_15433delinsCA (p.Ser5144=) c.15417_15418delinsCA (p.Ser5139=) c.15333_15334delinsCA (p.Ser5111=) c.*446_*447delinsCA (n.*446_*447delinsCA) c.8631_8632delinsCA (p.Ser2877=) c.8610_8611delinsCA (p.Ser2870=) n.15508_15509delinsCA | |
5 | g.90810753A= | CA1562911519 | ADGRV1 | c.15493A= (p.Lys5165=) c.4447A= (p.Lys1483=) n.2760A= c.265+134544A= (n.265+134544A=) c.1903A= (p.Lys635=) c.2476A= (p.Lys826=) n.15506A= c.15490A= (p.Lys5164=) c.15412A= (p.Lys5138=) c.12796A= (p.Lys4266=) c.15514A= (p.Lys5172=) c.15511A= (p.Lys5171=) c.15433A= (p.Lys5145=) c.15418A= (p.Lys5140=) c.15334A= (p.Lys5112=) c.*447A= (n.*447A=) c.8632A= (p.Lys2878=) c.8611A= (p.Lys2871=) n.15509A= | |
5 | g.90810753A>C | CA360409768 | ADGRV1 | c.15493A>C (p.Lys5165Gln) c.4447A>C (p.Lys1483Gln) n.2760A>C c.265+134544A>C (n.265+134544A>C) c.1903A>C (p.Lys635Gln) c.2476A>C (p.Lys826Gln) n.15506A>C c.15490A>C (p.Lys5164Gln) c.15412A>C (p.Lys5138Gln) c.12796A>C (p.Lys4266Gln) c.15514A>C (p.Lys5172Gln) c.15511A>C (p.Lys5171Gln) c.15433A>C (p.Lys5145Gln) c.15418A>C (p.Lys5140Gln) c.15334A>C (p.Lys5112Gln) c.*447A>C (n.*447A>C) c.8632A>C (p.Lys2878Gln) c.8611A>C (p.Lys2871Gln) n.15509A>C | |
5 | g.90810753A>G | CA360409770 | ADGRV1 | c.15493A>G (p.Lys5165Glu) c.4447A>G (p.Lys1483Glu) n.2760A>G c.265+134544A>G (n.265+134544A>G) c.1903A>G (p.Lys635Glu) c.2476A>G (p.Lys826Glu) n.15506A>G c.15490A>G (p.Lys5164Glu) c.15412A>G (p.Lys5138Glu) c.12796A>G (p.Lys4266Glu) c.15514A>G (p.Lys5172Glu) c.15511A>G (p.Lys5171Glu) c.15433A>G (p.Lys5145Glu) c.15418A>G (p.Lys5140Glu) c.15334A>G (p.Lys5112Glu) c.*447A>G (n.*447A>G) c.8632A>G (p.Lys2878Glu) c.8611A>G (p.Lys2871Glu) n.15509A>G | dbSNP |
5 | g.90810753A>T | CA360409774 | ADGRV1 | c.15493A>T (p.Lys5165Ter) c.4447A>T (p.Lys1483Ter) n.2760A>T c.265+134544A>T (n.265+134544A>T) c.1903A>T (p.Lys635Ter) c.2476A>T (p.Lys826Ter) n.15506A>T c.15490A>T (p.Lys5164Ter) c.15412A>T (p.Lys5138Ter) c.12796A>T (p.Lys4266Ter) c.15514A>T (p.Lys5172Ter) c.15511A>T (p.Lys5171Ter) c.15433A>T (p.Lys5145Ter) c.15418A>T (p.Lys5140Ter) c.15334A>T (p.Lys5112Ter) c.*447A>T (n.*447A>T) c.8632A>T (p.Lys2878Ter) c.8611A>T (p.Lys2871Ter) n.15509A>T | |
5 | g.90810754del | CA915943514 | ADGRV1 | c.15494del (p.Lys5165ArgfsTer?) c.4448del (p.Lys1483ArgfsTer?) n.2761del c.265+134545del (n.265+134545del) c.1904del (p.Lys635ArgfsTer?) c.2477del (p.Lys826ArgfsTer?) n.15507del c.15491del (p.Lys5164ArgfsTer?) c.15413del (p.Lys5138ArgfsTer?) c.12797del (p.Lys4266ArgfsTer?) c.15515del (p.Lys5172ArgfsTer?) c.15512del (p.Lys5171ArgfsTer?) c.15434del (p.Lys5145ArgfsTer?) c.15419del (p.Lys5140ArgfsTer?) c.15335del (p.Lys5112ArgfsTer?) c.*448del (n.*448del) c.8633del (p.Lys2878ArgfsTer?) c.8612del (p.Lys2871ArgfsTer?) n.15510del | ClinVar dbSNP |
5 | g.90810754A>C | CA360409779 | ADGRV1 | c.15494A>C (p.Lys5165Thr) c.4448A>C (p.Lys1483Thr) n.2761A>C c.265+134545A>C (n.265+134545A>C) c.1904A>C (p.Lys635Thr) c.2477A>C (p.Lys826Thr) n.15507A>C c.15491A>C (p.Lys5164Thr) c.15413A>C (p.Lys5138Thr) c.12797A>C (p.Lys4266Thr) c.15515A>C (p.Lys5172Thr) c.15512A>C (p.Lys5171Thr) c.15434A>C (p.Lys5145Thr) c.15419A>C (p.Lys5140Thr) c.15335A>C (p.Lys5112Thr) c.*448A>C (n.*448A>C) c.8633A>C (p.Lys2878Thr) c.8612A>C (p.Lys2871Thr) n.15510A>C | |
5 | g.90810754A>G | CA360409775 | ADGRV1 | c.15494A>G (p.Lys5165Arg) c.4448A>G (p.Lys1483Arg) n.2761A>G c.265+134545A>G (n.265+134545A>G) c.1904A>G (p.Lys635Arg) c.2477A>G (p.Lys826Arg) n.15507A>G c.15491A>G (p.Lys5164Arg) c.15413A>G (p.Lys5138Arg) c.12797A>G (p.Lys4266Arg) c.15515A>G (p.Lys5172Arg) c.15512A>G (p.Lys5171Arg) c.15434A>G (p.Lys5145Arg) c.15419A>G (p.Lys5140Arg) c.15335A>G (p.Lys5112Arg) c.*448A>G (n.*448A>G) c.8633A>G (p.Lys2878Arg) c.8612A>G (p.Lys2871Arg) n.15510A>G | gnomAD v4 |
5 | g.90810754A>T | CA360409776 | ADGRV1 | c.15494A>T (p.Lys5165Met) c.4448A>T (p.Lys1483Met) n.2761A>T c.265+134545A>T (n.265+134545A>T) c.1904A>T (p.Lys635Met) c.2477A>T (p.Lys826Met) n.15507A>T c.15491A>T (p.Lys5164Met) c.15413A>T (p.Lys5138Met) c.12797A>T (p.Lys4266Met) c.15515A>T (p.Lys5172Met) c.15512A>T (p.Lys5171Met) c.15434A>T (p.Lys5145Met) c.15419A>T (p.Lys5140Met) c.15335A>T (p.Lys5112Met) c.*448A>T (n.*448A>T) c.8633A>T (p.Lys2878Met) c.8612A>T (p.Lys2871Met) n.15510A>T | |
5 | g.90810755G>A | CA445468428 | ADGRV1 | c.15495G>A (p.Lys5165=) c.4449G>A (p.Lys1483=) n.2762G>A c.265+134546G>A (n.265+134546G>A) c.1905G>A (p.Lys635=) c.2478G>A (p.Lys826=) n.15508G>A c.15492G>A (p.Lys5164=) c.15414G>A (p.Lys5138=) c.12798G>A (p.Lys4266=) c.15516G>A (p.Lys5172=) c.15513G>A (p.Lys5171=) c.15435G>A (p.Lys5145=) c.15420G>A (p.Lys5140=) c.15336G>A (p.Lys5112=) c.*449G>A (n.*449G>A) c.8634G>A (p.Lys2878=) c.8613G>A (p.Lys2871=) n.15511G>A | |
5 | g.90810755G>C | CA360409781 | ADGRV1 | c.15495G>C (p.Lys5165Asn) c.4449G>C (p.Lys1483Asn) n.2762G>C c.265+134546G>C (n.265+134546G>C) c.1905G>C (p.Lys635Asn) c.2478G>C (p.Lys826Asn) n.15508G>C c.15492G>C (p.Lys5164Asn) c.15414G>C (p.Lys5138Asn) c.12798G>C (p.Lys4266Asn) c.15516G>C (p.Lys5172Asn) c.15513G>C (p.Lys5171Asn) c.15435G>C (p.Lys5145Asn) c.15420G>C (p.Lys5140Asn) c.15336G>C (p.Lys5112Asn) c.*449G>C (n.*449G>C) c.8634G>C (p.Lys2878Asn) c.8613G>C (p.Lys2871Asn) n.15511G>C | |
5 | g.90810755G>T | CA360409784 | ADGRV1 | c.15495G>T (p.Lys5165Asn) c.4449G>T (p.Lys1483Asn) n.2762G>T c.265+134546G>T (n.265+134546G>T) c.1905G>T (p.Lys635Asn) c.2478G>T (p.Lys826Asn) n.15508G>T c.15492G>T (p.Lys5164Asn) c.15414G>T (p.Lys5138Asn) c.12798G>T (p.Lys4266Asn) c.15516G>T (p.Lys5172Asn) c.15513G>T (p.Lys5171Asn) c.15435G>T (p.Lys5145Asn) c.15420G>T (p.Lys5140Asn) c.15336G>T (p.Lys5112Asn) c.*449G>T (n.*449G>T) c.8634G>T (p.Lys2878Asn) c.8613G>T (p.Lys2871Asn) n.15511G>T | |
5 | g.90810756A= | CA1562911520 | ADGRV1 | c.15496A= (p.Thr5166=) c.4450A= (p.Thr1484=) n.2763A= c.265+134547A= (n.265+134547A=) c.1906A= (p.Thr636=) c.2479A= (p.Thr827=) n.15509A= c.15493A= (p.Thr5165=) c.15415A= (p.Thr5139=) c.12799A= (p.Thr4267=) c.15517A= (p.Thr5173=) c.15514A= (p.Thr5172=) c.15436A= (p.Thr5146=) c.15421A= (p.Thr5141=) c.15337A= (p.Thr5113=) c.*450A= (n.*450A=) c.8635A= (p.Thr2879=) c.8614A= (p.Thr2872=) n.15512A= | |
5 | g.90810756A>C | CA360409786 | ADGRV1 | c.15496A>C (p.Thr5166Pro) c.4450A>C (p.Thr1484Pro) n.2763A>C c.265+134547A>C (n.265+134547A>C) c.1906A>C (p.Thr636Pro) c.2479A>C (p.Thr827Pro) n.15509A>C c.15493A>C (p.Thr5165Pro) c.15415A>C (p.Thr5139Pro) c.12799A>C (p.Thr4267Pro) c.15517A>C (p.Thr5173Pro) c.15514A>C (p.Thr5172Pro) c.15436A>C (p.Thr5146Pro) c.15421A>C (p.Thr5141Pro) c.15337A>C (p.Thr5113Pro) c.*450A>C (n.*450A>C) c.8635A>C (p.Thr2879Pro) c.8614A>C (p.Thr2872Pro) n.15512A>C | |
5 | g.90810756A>G | CA360409788 | ADGRV1 | c.15496A>G (p.Thr5166Ala) c.4450A>G (p.Thr1484Ala) n.2763A>G c.265+134547A>G (n.265+134547A>G) c.1906A>G (p.Thr636Ala) c.2479A>G (p.Thr827Ala) n.15509A>G c.15493A>G (p.Thr5165Ala) c.15415A>G (p.Thr5139Ala) c.12799A>G (p.Thr4267Ala) c.15517A>G (p.Thr5173Ala) c.15514A>G (p.Thr5172Ala) c.15436A>G (p.Thr5146Ala) c.15421A>G (p.Thr5141Ala) c.15337A>G (p.Thr5113Ala) c.*450A>G (n.*450A>G) c.8635A>G (p.Thr2879Ala) c.8614A>G (p.Thr2872Ala) n.15512A>G | |
5 | g.90810756A>T | CA360409789 | ADGRV1 | c.15496A>T (p.Thr5166Ser) c.4450A>T (p.Thr1484Ser) n.2763A>T c.265+134547A>T (n.265+134547A>T) c.1906A>T (p.Thr636Ser) c.2479A>T (p.Thr827Ser) n.15509A>T c.15493A>T (p.Thr5165Ser) c.15415A>T (p.Thr5139Ser) c.12799A>T (p.Thr4267Ser) c.15517A>T (p.Thr5173Ser) c.15514A>T (p.Thr5172Ser) c.15436A>T (p.Thr5146Ser) c.15421A>T (p.Thr5141Ser) c.15337A>T (p.Thr5113Ser) c.*450A>T (n.*450A>T) c.8635A>T (p.Thr2879Ser) c.8614A>T (p.Thr2872Ser) n.15512A>T | ClinVar dbSNP |
5 | g.90810757C>A | CA360409794 | ADGRV1 | c.15497C>A (p.Thr5166Lys) c.4451C>A (p.Thr1484Lys) n.2764C>A c.265+134548C>A (n.265+134548C>A) c.1907C>A (p.Thr636Lys) c.2480C>A (p.Thr827Lys) n.15510C>A c.15494C>A (p.Thr5165Lys) c.15416C>A (p.Thr5139Lys) c.12800C>A (p.Thr4267Lys) c.15518C>A (p.Thr5173Lys) c.15515C>A (p.Thr5172Lys) c.15437C>A (p.Thr5146Lys) c.15422C>A (p.Thr5141Lys) c.15338C>A (p.Thr5113Lys) c.*451C>A (n.*451C>A) c.8636C>A (p.Thr2879Lys) c.8615C>A (p.Thr2872Lys) n.15513C>A | ClinVar dbSNP |
5 | g.90810757C= | CA1562911521 | ADGRV1 | c.15497C= (p.Thr5166=) c.4451C= (p.Thr1484=) n.2764C= c.265+134548C= (n.265+134548C=) c.1907C= (p.Thr636=) c.2480C= (p.Thr827=) n.15510C= c.15494C= (p.Thr5165=) c.15416C= (p.Thr5139=) c.12800C= (p.Thr4267=) c.15518C= (p.Thr5173=) c.15515C= (p.Thr5172=) c.15437C= (p.Thr5146=) c.15422C= (p.Thr5141=) c.15338C= (p.Thr5113=) c.*451C= (n.*451C=) c.8636C= (p.Thr2879=) c.8615C= (p.Thr2872=) n.15513C= | |
5 | g.90810757C>G | CA360409796 | ADGRV1 | c.15497C>G (p.Thr5166Arg) c.4451C>G (p.Thr1484Arg) n.2764C>G c.265+134548C>G (n.265+134548C>G) c.1907C>G (p.Thr636Arg) c.2480C>G (p.Thr827Arg) n.15510C>G c.15494C>G (p.Thr5165Arg) c.15416C>G (p.Thr5139Arg) c.12800C>G (p.Thr4267Arg) c.15518C>G (p.Thr5173Arg) c.15515C>G (p.Thr5172Arg) c.15437C>G (p.Thr5146Arg) c.15422C>G (p.Thr5141Arg) c.15338C>G (p.Thr5113Arg) c.*451C>G (n.*451C>G) c.8636C>G (p.Thr2879Arg) c.8615C>G (p.Thr2872Arg) n.15513C>G | ClinVar dbSNP |
5 | g.90810757C>T | CA3341931 | ADGRV1 | c.15497C>T (p.Thr5166Met) c.4451C>T (p.Thr1484Met) n.2764C>T c.265+134548C>T (n.265+134548C>T) c.1907C>T (p.Thr636Met) c.2480C>T (p.Thr827Met) n.15510C>T c.15494C>T (p.Thr5165Met) c.15416C>T (p.Thr5139Met) c.12800C>T (p.Thr4267Met) c.15518C>T (p.Thr5173Met) c.15515C>T (p.Thr5172Met) c.15437C>T (p.Thr5146Met) c.15422C>T (p.Thr5141Met) c.15338C>T (p.Thr5113Met) c.*451C>T (n.*451C>T) c.8636C>T (p.Thr2879Met) c.8615C>T (p.Thr2872Met) n.15513C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810758G>A | CA3341932 | ADGRV1 | c.15498G>A (p.Thr5166=) c.4452G>A (p.Thr1484=) n.2765G>A c.265+134549G>A (n.265+134549G>A) c.1908G>A (p.Thr636=) c.2481G>A (p.Thr827=) n.15511G>A c.15495G>A (p.Thr5165=) c.15417G>A (p.Thr5139=) c.12801G>A (p.Thr4267=) c.15519G>A (p.Thr5173=) c.15516G>A (p.Thr5172=) c.15438G>A (p.Thr5146=) c.15423G>A (p.Thr5141=) c.15339G>A (p.Thr5113=) c.*452G>A (n.*452G>A) c.8637G>A (p.Thr2879=) c.8616G>A (p.Thr2872=) n.15514G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810758G>C | CA445468435 | ADGRV1 | c.15498G>C (p.Thr5166=) c.4452G>C (p.Thr1484=) n.2765G>C c.265+134549G>C (n.265+134549G>C) c.1908G>C (p.Thr636=) c.2481G>C (p.Thr827=) n.15511G>C c.15495G>C (p.Thr5165=) c.15417G>C (p.Thr5139=) c.12801G>C (p.Thr4267=) c.15519G>C (p.Thr5173=) c.15516G>C (p.Thr5172=) c.15438G>C (p.Thr5146=) c.15423G>C (p.Thr5141=) c.15339G>C (p.Thr5113=) c.*452G>C (n.*452G>C) c.8637G>C (p.Thr2879=) c.8616G>C (p.Thr2872=) n.15514G>C | |
5 | g.90810758G= | CA1562911522 | ADGRV1 | c.15498G= (p.Thr5166=) c.4452G= (p.Thr1484=) n.2765G= c.265+134549G= (n.265+134549G=) c.1908G= (p.Thr636=) c.2481G= (p.Thr827=) n.15511G= c.15495G= (p.Thr5165=) c.15417G= (p.Thr5139=) c.12801G= (p.Thr4267=) c.15519G= (p.Thr5173=) c.15516G= (p.Thr5172=) c.15438G= (p.Thr5146=) c.15423G= (p.Thr5141=) c.15339G= (p.Thr5113=) c.*452G= (n.*452G=) c.8637G= (p.Thr2879=) c.8616G= (p.Thr2872=) n.15514G= | |
5 | g.90810758G>T | CA445468437 | ADGRV1 | c.15498G>T (p.Thr5166=) c.4452G>T (p.Thr1484=) n.2765G>T c.265+134549G>T (n.265+134549G>T) c.1908G>T (p.Thr636=) c.2481G>T (p.Thr827=) n.15511G>T c.15495G>T (p.Thr5165=) c.15417G>T (p.Thr5139=) c.12801G>T (p.Thr4267=) c.15519G>T (p.Thr5173=) c.15516G>T (p.Thr5172=) c.15438G>T (p.Thr5146=) c.15423G>T (p.Thr5141=) c.15339G>T (p.Thr5113=) c.*452G>T (n.*452G>T) c.8637G>T (p.Thr2879=) c.8616G>T (p.Thr2872=) n.15514G>T | gnomAD v4 |
5 | g.90810759A= | CA1562911523 | ADGRV1 | c.15499A= (p.Thr5167=) c.4453A= (p.Thr1485=) n.2766A= c.265+134550A= (n.265+134550A=) c.1909A= (p.Thr637=) c.2482A= (p.Thr828=) n.15512A= c.15496A= (p.Thr5166=) c.15418A= (p.Thr5140=) c.12802A= (p.Thr4268=) c.15520A= (p.Thr5174=) c.15517A= (p.Thr5173=) c.15439A= (p.Thr5147=) c.15424A= (p.Thr5142=) c.15340A= (p.Thr5114=) c.*453A= (n.*453A=) c.8638A= (p.Thr2880=) c.8617A= (p.Thr2873=) n.15515A= | |
5 | g.90810759A>C | CA360409803 | ADGRV1 | c.15499A>C (p.Thr5167Pro) c.4453A>C (p.Thr1485Pro) n.2766A>C c.265+134550A>C (n.265+134550A>C) c.1909A>C (p.Thr637Pro) c.2482A>C (p.Thr828Pro) n.15512A>C c.15496A>C (p.Thr5166Pro) c.15418A>C (p.Thr5140Pro) c.12802A>C (p.Thr4268Pro) c.15520A>C (p.Thr5174Pro) c.15517A>C (p.Thr5173Pro) c.15439A>C (p.Thr5147Pro) c.15424A>C (p.Thr5142Pro) c.15340A>C (p.Thr5114Pro) c.*453A>C (n.*453A>C) c.8638A>C (p.Thr2880Pro) c.8617A>C (p.Thr2873Pro) n.15515A>C | |
5 | g.90810759A>G | CA3341933 | ADGRV1 | c.15499A>G (p.Thr5167Ala) c.4453A>G (p.Thr1485Ala) n.2766A>G c.265+134550A>G (n.265+134550A>G) c.1909A>G (p.Thr637Ala) c.2482A>G (p.Thr828Ala) n.15512A>G c.15496A>G (p.Thr5166Ala) c.15418A>G (p.Thr5140Ala) c.12802A>G (p.Thr4268Ala) c.15520A>G (p.Thr5174Ala) c.15517A>G (p.Thr5173Ala) c.15439A>G (p.Thr5147Ala) c.15424A>G (p.Thr5142Ala) c.15340A>G (p.Thr5114Ala) c.*453A>G (n.*453A>G) c.8638A>G (p.Thr2880Ala) c.8617A>G (p.Thr2873Ala) n.15515A>G | dbSNP ExAC gnomAD v2 |
5 | g.90810759A>T | CA360409810 | ADGRV1 | c.15499A>T (p.Thr5167Ser) c.4453A>T (p.Thr1485Ser) n.2766A>T c.265+134550A>T (n.265+134550A>T) c.1909A>T (p.Thr637Ser) c.2482A>T (p.Thr828Ser) n.15512A>T c.15496A>T (p.Thr5166Ser) c.15418A>T (p.Thr5140Ser) c.12802A>T (p.Thr4268Ser) c.15520A>T (p.Thr5174Ser) c.15517A>T (p.Thr5173Ser) c.15439A>T (p.Thr5147Ser) c.15424A>T (p.Thr5142Ser) c.15340A>T (p.Thr5114Ser) c.*453A>T (n.*453A>T) c.8638A>T (p.Thr2880Ser) c.8617A>T (p.Thr2873Ser) n.15515A>T | |
5 | g.90810760C>A | CA360409814 | ADGRV1 | c.15500C>A (p.Thr5167Asn) c.4454C>A (p.Thr1485Asn) n.2767C>A c.265+134551C>A (n.265+134551C>A) c.1910C>A (p.Thr637Asn) c.2483C>A (p.Thr828Asn) n.15513C>A c.15497C>A (p.Thr5166Asn) c.15419C>A (p.Thr5140Asn) c.12803C>A (p.Thr4268Asn) c.15521C>A (p.Thr5174Asn) c.15518C>A (p.Thr5173Asn) c.15440C>A (p.Thr5147Asn) c.15425C>A (p.Thr5142Asn) c.15341C>A (p.Thr5114Asn) c.*454C>A (n.*454C>A) c.8639C>A (p.Thr2880Asn) c.8618C>A (p.Thr2873Asn) n.15516C>A | |
5 | g.90810760C>G | CA360409815 | ADGRV1 | c.15500C>G (p.Thr5167Ser) c.4454C>G (p.Thr1485Ser) n.2767C>G c.265+134551C>G (n.265+134551C>G) c.1910C>G (p.Thr637Ser) c.2483C>G (p.Thr828Ser) n.15513C>G c.15497C>G (p.Thr5166Ser) c.15419C>G (p.Thr5140Ser) c.12803C>G (p.Thr4268Ser) c.15521C>G (p.Thr5174Ser) c.15518C>G (p.Thr5173Ser) c.15440C>G (p.Thr5147Ser) c.15425C>G (p.Thr5142Ser) c.15341C>G (p.Thr5114Ser) c.*454C>G (n.*454C>G) c.8639C>G (p.Thr2880Ser) c.8618C>G (p.Thr2873Ser) n.15516C>G | |
5 | g.90810760C>T | CA360409811 | ADGRV1 | c.15500C>T (p.Thr5167Ile) c.4454C>T (p.Thr1485Ile) n.2767C>T c.265+134551C>T (n.265+134551C>T) c.1910C>T (p.Thr637Ile) c.2483C>T (p.Thr828Ile) n.15513C>T c.15497C>T (p.Thr5166Ile) c.15419C>T (p.Thr5140Ile) c.12803C>T (p.Thr4268Ile) c.15521C>T (p.Thr5174Ile) c.15518C>T (p.Thr5173Ile) c.15440C>T (p.Thr5147Ile) c.15425C>T (p.Thr5142Ile) c.15341C>T (p.Thr5114Ile) c.*454C>T (n.*454C>T) c.8639C>T (p.Thr2880Ile) c.8618C>T (p.Thr2873Ile) n.15516C>T | |
5 | g.90810761T>A | CA445468446 | ADGRV1 | c.15501T>A (p.Thr5167=) c.4455T>A (p.Thr1485=) n.2768T>A c.265+134552T>A (n.265+134552T>A) c.1911T>A (p.Thr637=) c.2484T>A (p.Thr828=) n.15514T>A c.15498T>A (p.Thr5166=) c.15420T>A (p.Thr5140=) c.12804T>A (p.Thr4268=) c.15522T>A (p.Thr5174=) c.15519T>A (p.Thr5173=) c.15441T>A (p.Thr5147=) c.15426T>A (p.Thr5142=) c.15342T>A (p.Thr5114=) c.*455T>A (n.*455T>A) c.8640T>A (p.Thr2880=) c.8619T>A (p.Thr2873=) n.15517T>A | |
5 | g.90810761T>C | CA445468447 | ADGRV1 | c.15501T>C (p.Thr5167=) c.4455T>C (p.Thr1485=) n.2768T>C c.265+134552T>C (n.265+134552T>C) c.1911T>C (p.Thr637=) c.2484T>C (p.Thr828=) n.15514T>C c.15498T>C (p.Thr5166=) c.15420T>C (p.Thr5140=) c.12804T>C (p.Thr4268=) c.15522T>C (p.Thr5174=) c.15519T>C (p.Thr5173=) c.15441T>C (p.Thr5147=) c.15426T>C (p.Thr5142=) c.15342T>C (p.Thr5114=) c.*455T>C (n.*455T>C) c.8640T>C (p.Thr2880=) c.8619T>C (p.Thr2873=) n.15517T>C | |
5 | g.90810761T>G | CA445468449 | ADGRV1 | c.15501T>G (p.Thr5167=) c.4455T>G (p.Thr1485=) n.2768T>G c.265+134552T>G (n.265+134552T>G) c.1911T>G (p.Thr637=) c.2484T>G (p.Thr828=) n.15514T>G c.15498T>G (p.Thr5166=) c.15420T>G (p.Thr5140=) c.12804T>G (p.Thr4268=) c.15522T>G (p.Thr5174=) c.15519T>G (p.Thr5173=) c.15441T>G (p.Thr5147=) c.15426T>G (p.Thr5142=) c.15342T>G (p.Thr5114=) c.*455T>G (n.*455T>G) c.8640T>G (p.Thr2880=) c.8619T>G (p.Thr2873=) n.15517T>G | |
5 | g.90810762A>C | CA360409818 | ADGRV1 | c.15502A>C (p.Thr5168Pro) c.4456A>C (p.Thr1486Pro) n.2769A>C c.265+134553A>C (n.265+134553A>C) c.1912A>C (p.Thr638Pro) c.2485A>C (p.Thr829Pro) n.15515A>C c.15499A>C (p.Thr5167Pro) c.15421A>C (p.Thr5141Pro) c.12805A>C (p.Thr4269Pro) c.15523A>C (p.Thr5175Pro) c.15520A>C (p.Thr5174Pro) c.15442A>C (p.Thr5148Pro) c.15427A>C (p.Thr5143Pro) c.15343A>C (p.Thr5115Pro) c.*456A>C (n.*456A>C) c.8641A>C (p.Thr2881Pro) c.8620A>C (p.Thr2874Pro) n.15518A>C | |
5 | g.90810762A>G | CA360409820 | ADGRV1 | c.15502A>G (p.Thr5168Ala) c.4456A>G (p.Thr1486Ala) n.2769A>G c.265+134553A>G (n.265+134553A>G) c.1912A>G (p.Thr638Ala) c.2485A>G (p.Thr829Ala) n.15515A>G c.15499A>G (p.Thr5167Ala) c.15421A>G (p.Thr5141Ala) c.12805A>G (p.Thr4269Ala) c.15523A>G (p.Thr5175Ala) c.15520A>G (p.Thr5174Ala) c.15442A>G (p.Thr5148Ala) c.15427A>G (p.Thr5143Ala) c.15343A>G (p.Thr5115Ala) c.*456A>G (n.*456A>G) c.8641A>G (p.Thr2881Ala) c.8620A>G (p.Thr2874Ala) n.15518A>G | |
5 | g.90810762A>T | CA360409821 | ADGRV1 | c.15502A>T (p.Thr5168Ser) c.4456A>T (p.Thr1486Ser) n.2769A>T c.265+134553A>T (n.265+134553A>T) c.1912A>T (p.Thr638Ser) c.2485A>T (p.Thr829Ser) n.15515A>T c.15499A>T (p.Thr5167Ser) c.15421A>T (p.Thr5141Ser) c.12805A>T (p.Thr4269Ser) c.15523A>T (p.Thr5175Ser) c.15520A>T (p.Thr5174Ser) c.15442A>T (p.Thr5148Ser) c.15427A>T (p.Thr5143Ser) c.15343A>T (p.Thr5115Ser) c.*456A>T (n.*456A>T) c.8641A>T (p.Thr2881Ser) c.8620A>T (p.Thr2874Ser) n.15518A>T | |
5 | g.90810763C>A | CA360409822 | ADGRV1 | c.15503C>A (p.Thr5168Asn) c.4457C>A (p.Thr1486Asn) n.2770C>A c.265+134554C>A (n.265+134554C>A) c.1913C>A (p.Thr638Asn) c.2486C>A (p.Thr829Asn) n.15516C>A c.15500C>A (p.Thr5167Asn) c.15422C>A (p.Thr5141Asn) c.12806C>A (p.Thr4269Asn) c.15524C>A (p.Thr5175Asn) c.15521C>A (p.Thr5174Asn) c.15443C>A (p.Thr5148Asn) c.15428C>A (p.Thr5143Asn) c.15344C>A (p.Thr5115Asn) c.*457C>A (n.*457C>A) c.8642C>A (p.Thr2881Asn) c.8621C>A (p.Thr2874Asn) n.15519C>A | gnomAD v4 |
5 | g.90810763C>G | CA360409823 | ADGRV1 | c.15503C>G (p.Thr5168Ser) c.4457C>G (p.Thr1486Ser) n.2770C>G c.265+134554C>G (n.265+134554C>G) c.1913C>G (p.Thr638Ser) c.2486C>G (p.Thr829Ser) n.15516C>G c.15500C>G (p.Thr5167Ser) c.15422C>G (p.Thr5141Ser) c.12806C>G (p.Thr4269Ser) c.15524C>G (p.Thr5175Ser) c.15521C>G (p.Thr5174Ser) c.15443C>G (p.Thr5148Ser) c.15428C>G (p.Thr5143Ser) c.15344C>G (p.Thr5115Ser) c.*457C>G (n.*457C>G) c.8642C>G (p.Thr2881Ser) c.8621C>G (p.Thr2874Ser) n.15519C>G | gnomAD v4 |
5 | g.90810763C>T | CA360409824 | ADGRV1 | c.15503C>T (p.Thr5168Ile) c.4457C>T (p.Thr1486Ile) n.2770C>T c.265+134554C>T (n.265+134554C>T) c.1913C>T (p.Thr638Ile) c.2486C>T (p.Thr829Ile) n.15516C>T c.15500C>T (p.Thr5167Ile) c.15422C>T (p.Thr5141Ile) c.12806C>T (p.Thr4269Ile) c.15524C>T (p.Thr5175Ile) c.15521C>T (p.Thr5174Ile) c.15443C>T (p.Thr5148Ile) c.15428C>T (p.Thr5143Ile) c.15344C>T (p.Thr5115Ile) c.*457C>T (n.*457C>T) c.8642C>T (p.Thr2881Ile) c.8621C>T (p.Thr2874Ile) n.15519C>T | |
5 | g.90810764C>A | CA445468454 | ADGRV1 | c.15504C>A (p.Thr5168=) c.4458C>A (p.Thr1486=) n.2771C>A c.265+134555C>A (n.265+134555C>A) c.1914C>A (p.Thr638=) c.2487C>A (p.Thr829=) n.15517C>A c.15501C>A (p.Thr5167=) c.15423C>A (p.Thr5141=) c.12807C>A (p.Thr4269=) c.15525C>A (p.Thr5175=) c.15522C>A (p.Thr5174=) c.15444C>A (p.Thr5148=) c.15429C>A (p.Thr5143=) c.15345C>A (p.Thr5115=) c.*458C>A (n.*458C>A) c.8643C>A (p.Thr2881=) c.8622C>A (p.Thr2874=) n.15520C>A | |
5 | g.90810764C>G | CA445468456 | ADGRV1 | c.15504C>G (p.Thr5168=) c.4458C>G (p.Thr1486=) n.2771C>G c.265+134555C>G (n.265+134555C>G) c.1914C>G (p.Thr638=) c.2487C>G (p.Thr829=) n.15517C>G c.15501C>G (p.Thr5167=) c.15423C>G (p.Thr5141=) c.12807C>G (p.Thr4269=) c.15525C>G (p.Thr5175=) c.15522C>G (p.Thr5174=) c.15444C>G (p.Thr5148=) c.15429C>G (p.Thr5143=) c.15345C>G (p.Thr5115=) c.*458C>G (n.*458C>G) c.8643C>G (p.Thr2881=) c.8622C>G (p.Thr2874=) n.15520C>G | |
5 | g.90810764C>T | CA445468459 | ADGRV1 | c.15504C>T (p.Thr5168=) c.4458C>T (p.Thr1486=) n.2771C>T c.265+134555C>T (n.265+134555C>T) c.1914C>T (p.Thr638=) c.2487C>T (p.Thr829=) n.15517C>T c.15501C>T (p.Thr5167=) c.15423C>T (p.Thr5141=) c.12807C>T (p.Thr4269=) c.15525C>T (p.Thr5175=) c.15522C>T (p.Thr5174=) c.15444C>T (p.Thr5148=) c.15429C>T (p.Thr5143=) c.15345C>T (p.Thr5115=) c.*458C>T (n.*458C>T) c.8643C>T (p.Thr2881=) c.8622C>T (p.Thr2874=) n.15520C>T | dbSNP |
5 | g.90810765A= | CA1562911524 | ADGRV1 | c.15505A= (p.Ile5169=) c.4459A= (p.Ile1487=) n.2772A= c.265+134556A= (n.265+134556A=) c.1915A= (p.Ile639=) c.2488A= (p.Ile830=) n.15518A= c.15502A= (p.Ile5168=) c.15424A= (p.Ile5142=) c.12808A= (p.Ile4270=) c.15526A= (p.Ile5176=) c.15523A= (p.Ile5175=) c.15445A= (p.Ile5149=) c.15430A= (p.Ile5144=) c.15346A= (p.Ile5116=) c.*459A= (n.*459A=) c.8644A= (p.Ile2882=) c.8623A= (p.Ile2875=) n.15521A= | |
5 | g.90810765A>C | CA360409825 | ADGRV1 | c.15505A>C (p.Ile5169Leu) c.4459A>C (p.Ile1487Leu) n.2772A>C c.265+134556A>C (n.265+134556A>C) c.1915A>C (p.Ile639Leu) c.2488A>C (p.Ile830Leu) n.15518A>C c.15502A>C (p.Ile5168Leu) c.15424A>C (p.Ile5142Leu) c.12808A>C (p.Ile4270Leu) c.15526A>C (p.Ile5176Leu) c.15523A>C (p.Ile5175Leu) c.15445A>C (p.Ile5149Leu) c.15430A>C (p.Ile5144Leu) c.15346A>C (p.Ile5116Leu) c.*459A>C (n.*459A>C) c.8644A>C (p.Ile2882Leu) c.8623A>C (p.Ile2875Leu) n.15521A>C | |
5 | g.90810765A>G | CA122821802 | ADGRV1 | c.15505A>G (p.Ile5169Val) c.4459A>G (p.Ile1487Val) n.2772A>G c.265+134556A>G (n.265+134556A>G) c.1915A>G (p.Ile639Val) c.2488A>G (p.Ile830Val) n.15518A>G c.15502A>G (p.Ile5168Val) c.15424A>G (p.Ile5142Val) c.12808A>G (p.Ile4270Val) c.15526A>G (p.Ile5176Val) c.15523A>G (p.Ile5175Val) c.15445A>G (p.Ile5149Val) c.15430A>G (p.Ile5144Val) c.15346A>G (p.Ile5116Val) c.*459A>G (n.*459A>G) c.8644A>G (p.Ile2882Val) c.8623A>G (p.Ile2875Val) n.15521A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810765A>T | CA3341934 | ADGRV1 | c.15505A>T (p.Ile5169Phe) c.4459A>T (p.Ile1487Phe) n.2772A>T c.265+134556A>T (n.265+134556A>T) c.1915A>T (p.Ile639Phe) c.2488A>T (p.Ile830Phe) n.15518A>T c.15502A>T (p.Ile5168Phe) c.15424A>T (p.Ile5142Phe) c.12808A>T (p.Ile4270Phe) c.15526A>T (p.Ile5176Phe) c.15523A>T (p.Ile5175Phe) c.15445A>T (p.Ile5149Phe) c.15430A>T (p.Ile5144Phe) c.15346A>T (p.Ile5116Phe) c.*459A>T (n.*459A>T) c.8644A>T (p.Ile2882Phe) c.8623A>T (p.Ile2875Phe) n.15521A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810766T>A | CA360409830 | ADGRV1 | c.15506T>A (p.Ile5169Asn) c.4460T>A (p.Ile1487Asn) n.2773T>A c.265+134557T>A (n.265+134557T>A) c.1916T>A (p.Ile639Asn) c.2489T>A (p.Ile830Asn) n.15519T>A c.15503T>A (p.Ile5168Asn) c.15425T>A (p.Ile5142Asn) c.12809T>A (p.Ile4270Asn) c.15527T>A (p.Ile5176Asn) c.15524T>A (p.Ile5175Asn) c.15446T>A (p.Ile5149Asn) c.15431T>A (p.Ile5144Asn) c.15347T>A (p.Ile5116Asn) c.*460T>A (n.*460T>A) c.8645T>A (p.Ile2882Asn) c.8624T>A (p.Ile2875Asn) n.15522T>A | |
5 | g.90810766T>C | CA360409832 | ADGRV1 | c.15506T>C (p.Ile5169Thr) c.4460T>C (p.Ile1487Thr) n.2773T>C c.265+134557T>C (n.265+134557T>C) c.1916T>C (p.Ile639Thr) c.2489T>C (p.Ile830Thr) n.15519T>C c.15503T>C (p.Ile5168Thr) c.15425T>C (p.Ile5142Thr) c.12809T>C (p.Ile4270Thr) c.15527T>C (p.Ile5176Thr) c.15524T>C (p.Ile5175Thr) c.15446T>C (p.Ile5149Thr) c.15431T>C (p.Ile5144Thr) c.15347T>C (p.Ile5116Thr) c.*460T>C (n.*460T>C) c.8645T>C (p.Ile2882Thr) c.8624T>C (p.Ile2875Thr) n.15522T>C | |
5 | g.90810766T>G | CA360409834 | ADGRV1 | c.15506T>G (p.Ile5169Ser) c.4460T>G (p.Ile1487Ser) n.2773T>G c.265+134557T>G (n.265+134557T>G) c.1916T>G (p.Ile639Ser) c.2489T>G (p.Ile830Ser) n.15519T>G c.15503T>G (p.Ile5168Ser) c.15425T>G (p.Ile5142Ser) c.12809T>G (p.Ile4270Ser) c.15527T>G (p.Ile5176Ser) c.15524T>G (p.Ile5175Ser) c.15446T>G (p.Ile5149Ser) c.15431T>G (p.Ile5144Ser) c.15347T>G (p.Ile5116Ser) c.*460T>G (n.*460T>G) c.8645T>G (p.Ile2882Ser) c.8624T>G (p.Ile2875Ser) n.15522T>G | gnomAD v4 |
5 | g.90810767T>A | CA445468462 | ADGRV1 | c.15507T>A (p.Ile5169=) c.4461T>A (p.Ile1487=) n.2774T>A c.265+134558T>A (n.265+134558T>A) c.1917T>A (p.Ile639=) c.2490T>A (p.Ile830=) n.15520T>A c.15504T>A (p.Ile5168=) c.15426T>A (p.Ile5142=) c.12810T>A (p.Ile4270=) c.15528T>A (p.Ile5176=) c.15525T>A (p.Ile5175=) c.15447T>A (p.Ile5149=) c.15432T>A (p.Ile5144=) c.15348T>A (p.Ile5116=) c.*461T>A (n.*461T>A) c.8646T>A (p.Ile2882=) c.8625T>A (p.Ile2875=) n.15523T>A | |
5 | g.90810767T>C | CA445468463 | ADGRV1 | c.15507T>C (p.Ile5169=) c.4461T>C (p.Ile1487=) n.2774T>C c.265+134558T>C (n.265+134558T>C) c.1917T>C (p.Ile639=) c.2490T>C (p.Ile830=) n.15520T>C c.15504T>C (p.Ile5168=) c.15426T>C (p.Ile5142=) c.12810T>C (p.Ile4270=) c.15528T>C (p.Ile5176=) c.15525T>C (p.Ile5175=) c.15447T>C (p.Ile5149=) c.15432T>C (p.Ile5144=) c.15348T>C (p.Ile5116=) c.*461T>C (n.*461T>C) c.8646T>C (p.Ile2882=) c.8625T>C (p.Ile2875=) n.15523T>C | |
5 | g.90810767T>G | CA360409835 | ADGRV1 | c.15507T>G (p.Ile5169Met) c.4461T>G (p.Ile1487Met) n.2774T>G c.265+134558T>G (n.265+134558T>G) c.1917T>G (p.Ile639Met) c.2490T>G (p.Ile830Met) n.15520T>G c.15504T>G (p.Ile5168Met) c.15426T>G (p.Ile5142Met) c.12810T>G (p.Ile4270Met) c.15528T>G (p.Ile5176Met) c.15525T>G (p.Ile5175Met) c.15447T>G (p.Ile5149Met) c.15432T>G (p.Ile5144Met) c.15348T>G (p.Ile5116Met) c.*461T>G (n.*461T>G) c.8646T>G (p.Ile2882Met) c.8625T>G (p.Ile2875Met) n.15523T>G | |
5 | g.90810768C>A | CA360409837 | ADGRV1 | c.15508C>A (p.Leu5170Met) c.4462C>A (p.Leu1488Met) n.2775C>A c.265+134559C>A (n.265+134559C>A) c.1918C>A (p.Leu640Met) c.2491C>A (p.Leu831Met) n.15521C>A c.15505C>A (p.Leu5169Met) c.15427C>A (p.Leu5143Met) c.12811C>A (p.Leu4271Met) c.15529C>A (p.Leu5177Met) c.15526C>A (p.Leu5176Met) c.15448C>A (p.Leu5150Met) c.15433C>A (p.Leu5145Met) c.15349C>A (p.Leu5117Met) c.*462C>A (n.*462C>A) c.8647C>A (p.Leu2883Met) c.8626C>A (p.Leu2876Met) n.15524C>A | ClinVar dbSNP |
5 | g.90810768C= | CA1562911525 | ADGRV1 | c.15508C= (p.Leu5170=) c.4462C= (p.Leu1488=) n.2775C= c.265+134559C= (n.265+134559C=) c.1918C= (p.Leu640=) c.2491C= (p.Leu831=) n.15521C= c.15505C= (p.Leu5169=) c.15427C= (p.Leu5143=) c.12811C= (p.Leu4271=) c.15529C= (p.Leu5177=) c.15526C= (p.Leu5176=) c.15448C= (p.Leu5150=) c.15433C= (p.Leu5145=) c.15349C= (p.Leu5117=) c.*462C= (n.*462C=) c.8647C= (p.Leu2883=) c.8626C= (p.Leu2876=) n.15524C= | |
5 | g.90810768C>G | CA360409839 | ADGRV1 | c.15508C>G (p.Leu5170Val) c.4462C>G (p.Leu1488Val) n.2775C>G c.265+134559C>G (n.265+134559C>G) c.1918C>G (p.Leu640Val) c.2491C>G (p.Leu831Val) n.15521C>G c.15505C>G (p.Leu5169Val) c.15427C>G (p.Leu5143Val) c.12811C>G (p.Leu4271Val) c.15529C>G (p.Leu5177Val) c.15526C>G (p.Leu5176Val) c.15448C>G (p.Leu5150Val) c.15433C>G (p.Leu5145Val) c.15349C>G (p.Leu5117Val) c.*462C>G (n.*462C>G) c.8647C>G (p.Leu2883Val) c.8626C>G (p.Leu2876Val) n.15524C>G | |
5 | g.90810768C>T | CA3341935 | ADGRV1 | c.15508C>T (p.Leu5170=) c.4462C>T (p.Leu1488=) n.2775C>T c.265+134559C>T (n.265+134559C>T) c.1918C>T (p.Leu640=) c.2491C>T (p.Leu831=) n.15521C>T c.15505C>T (p.Leu5169=) c.15427C>T (p.Leu5143=) c.12811C>T (p.Leu4271=) c.15529C>T (p.Leu5177=) c.15526C>T (p.Leu5176=) c.15448C>T (p.Leu5150=) c.15433C>T (p.Leu5145=) c.15349C>T (p.Leu5117=) c.*462C>T (n.*462C>T) c.8647C>T (p.Leu2883=) c.8626C>T (p.Leu2876=) n.15524C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90810769T>A | CA360409841 | ADGRV1 | c.15509T>A (p.Leu5170Gln) c.4463T>A (p.Leu1488Gln) n.2776T>A c.265+134560T>A (n.265+134560T>A) c.1919T>A (p.Leu640Gln) c.2492T>A (p.Leu831Gln) n.15522T>A c.15506T>A (p.Leu5169Gln) c.15428T>A (p.Leu5143Gln) c.12812T>A (p.Leu4271Gln) c.15530T>A (p.Leu5177Gln) c.15527T>A (p.Leu5176Gln) c.15449T>A (p.Leu5150Gln) c.15434T>A (p.Leu5145Gln) c.15350T>A (p.Leu5117Gln) c.*463T>A (n.*463T>A) c.8648T>A (p.Leu2883Gln) c.8627T>A (p.Leu2876Gln) n.15525T>A | |
5 | g.90810769T>C | CA360409843 | ADGRV1 | c.15509T>C (p.Leu5170Pro) c.4463T>C (p.Leu1488Pro) n.2776T>C c.265+134560T>C (n.265+134560T>C) c.1919T>C (p.Leu640Pro) c.2492T>C (p.Leu831Pro) n.15522T>C c.15506T>C (p.Leu5169Pro) c.15428T>C (p.Leu5143Pro) c.12812T>C (p.Leu4271Pro) c.15530T>C (p.Leu5177Pro) c.15527T>C (p.Leu5176Pro) c.15449T>C (p.Leu5150Pro) c.15434T>C (p.Leu5145Pro) c.15350T>C (p.Leu5117Pro) c.*463T>C (n.*463T>C) c.8648T>C (p.Leu2883Pro) c.8627T>C (p.Leu2876Pro) n.15525T>C | |
5 | g.90810769T>G | CA360409845 | ADGRV1 | c.15509T>G (p.Leu5170Arg) c.4463T>G (p.Leu1488Arg) n.2776T>G c.265+134560T>G (n.265+134560T>G) c.1919T>G (p.Leu640Arg) c.2492T>G (p.Leu831Arg) n.15522T>G c.15506T>G (p.Leu5169Arg) c.15428T>G (p.Leu5143Arg) c.12812T>G (p.Leu4271Arg) c.15530T>G (p.Leu5177Arg) c.15527T>G (p.Leu5176Arg) c.15449T>G (p.Leu5150Arg) c.15434T>G (p.Leu5145Arg) c.15350T>G (p.Leu5117Arg) c.*463T>G (n.*463T>G) c.8648T>G (p.Leu2883Arg) c.8627T>G (p.Leu2876Arg) n.15525T>G | |
5 | g.90810770G>A | CA445468469 | ADGRV1 | c.15510G>A (p.Leu5170=) c.4464G>A (p.Leu1488=) n.2777G>A c.265+134561G>A (n.265+134561G>A) c.1920G>A (p.Leu640=) c.2493G>A (p.Leu831=) n.15523G>A c.15507G>A (p.Leu5169=) c.15429G>A (p.Leu5143=) c.12813G>A (p.Leu4271=) c.15531G>A (p.Leu5177=) c.15528G>A (p.Leu5176=) c.15450G>A (p.Leu5150=) c.15435G>A (p.Leu5145=) c.15351G>A (p.Leu5117=) c.*464G>A (n.*464G>A) c.8649G>A (p.Leu2883=) c.8628G>A (p.Leu2876=) n.15526G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90810770G>C | CA445468470 | ADGRV1 | c.15510G>C (p.Leu5170=) c.4464G>C (p.Leu1488=) n.2777G>C c.265+134561G>C (n.265+134561G>C) c.1920G>C (p.Leu640=) c.2493G>C (p.Leu831=) n.15523G>C c.15507G>C (p.Leu5169=) c.15429G>C (p.Leu5143=) c.12813G>C (p.Leu4271=) c.15531G>C (p.Leu5177=) c.15528G>C (p.Leu5176=) c.15450G>C (p.Leu5150=) c.15435G>C (p.Leu5145=) c.15351G>C (p.Leu5117=) c.*464G>C (n.*464G>C) c.8649G>C (p.Leu2883=) c.8628G>C (p.Leu2876=) n.15526G>C | ClinVar |
5 | g.90810770G= | CA1562911526 | ADGRV1 | c.15510G= (p.Leu5170=) c.4464G= (p.Leu1488=) n.2777G= c.265+134561G= (n.265+134561G=) c.1920G= (p.Leu640=) c.2493G= (p.Leu831=) n.15523G= c.15507G= (p.Leu5169=) c.15429G= (p.Leu5143=) c.12813G= (p.Leu4271=) c.15531G= (p.Leu5177=) c.15528G= (p.Leu5176=) c.15450G= (p.Leu5150=) c.15435G= (p.Leu5145=) c.15351G= (p.Leu5117=) c.*464G= (n.*464G=) c.8649G= (p.Leu2883=) c.8628G= (p.Leu2876=) n.15526G= | |
5 | g.90810770G>T | CA445468474 | ADGRV1 | c.15510G>T (p.Leu5170=) c.4464G>T (p.Leu1488=) n.2777G>T c.265+134561G>T (n.265+134561G>T) c.1920G>T (p.Leu640=) c.2493G>T (p.Leu831=) n.15523G>T c.15507G>T (p.Leu5169=) c.15429G>T (p.Leu5143=) c.12813G>T (p.Leu4271=) c.15531G>T (p.Leu5177=) c.15528G>T (p.Leu5176=) c.15450G>T (p.Leu5150=) c.15435G>T (p.Leu5145=) c.15351G>T (p.Leu5117=) c.*464G>T (n.*464G>T) c.8649G>T (p.Leu2883=) c.8628G>T (p.Leu2876=) n.15526G>T | |
5 | g.90810771C>A | CA360409846 | ADGRV1 | c.15511C>A (p.Gln5171Lys) c.4465C>A (p.Gln1489Lys) n.2778C>A c.265+134562C>A (n.265+134562C>A) c.1921C>A (p.Gln641Lys) c.2494C>A (p.Gln832Lys) n.15524C>A c.15508C>A (p.Gln5170Lys) c.15430C>A (p.Gln5144Lys) c.12814C>A (p.Gln4272Lys) c.15532C>A (p.Gln5178Lys) c.15529C>A (p.Gln5177Lys) c.15451C>A (p.Gln5151Lys) c.15436C>A (p.Gln5146Lys) c.15352C>A (p.Gln5118Lys) c.*465C>A (n.*465C>A) c.8650C>A (p.Gln2884Lys) c.8629C>A (p.Gln2877Lys) n.15527C>A | |
5 | g.90810771C>G | CA360409847 | ADGRV1 | c.15511C>G (p.Gln5171Glu) c.4465C>G (p.Gln1489Glu) n.2778C>G c.265+134562C>G (n.265+134562C>G) c.1921C>G (p.Gln641Glu) c.2494C>G (p.Gln832Glu) n.15524C>G c.15508C>G (p.Gln5170Glu) c.15430C>G (p.Gln5144Glu) c.12814C>G (p.Gln4272Glu) c.15532C>G (p.Gln5178Glu) c.15529C>G (p.Gln5177Glu) c.15451C>G (p.Gln5151Glu) c.15436C>G (p.Gln5146Glu) c.15352C>G (p.Gln5118Glu) c.*465C>G (n.*465C>G) c.8650C>G (p.Gln2884Glu) c.8629C>G (p.Gln2877Glu) n.15527C>G | |
5 | g.90810771C>T | CA360409849 | ADGRV1 | c.15511C>T (p.Gln5171Ter) c.4465C>T (p.Gln1489Ter) n.2778C>T c.265+134562C>T (n.265+134562C>T) c.1921C>T (p.Gln641Ter) c.2494C>T (p.Gln832Ter) n.15524C>T c.15508C>T (p.Gln5170Ter) c.15430C>T (p.Gln5144Ter) c.12814C>T (p.Gln4272Ter) c.15532C>T (p.Gln5178Ter) c.15529C>T (p.Gln5177Ter) c.15451C>T (p.Gln5151Ter) c.15436C>T (p.Gln5146Ter) c.15352C>T (p.Gln5118Ter) c.*465C>T (n.*465C>T) c.8650C>T (p.Gln2884Ter) c.8629C>T (p.Gln2877Ter) n.15527C>T | |
5 | g.90810772A>C | CA360409854 | ADGRV1 | c.15512A>C (p.Gln5171Pro) c.4466A>C (p.Gln1489Pro) n.2779A>C c.265+134563A>C (n.265+134563A>C) c.1922A>C (p.Gln641Pro) c.2495A>C (p.Gln832Pro) n.15525A>C c.15509A>C (p.Gln5170Pro) c.15431A>C (p.Gln5144Pro) c.12815A>C (p.Gln4272Pro) c.15533A>C (p.Gln5178Pro) c.15530A>C (p.Gln5177Pro) c.15452A>C (p.Gln5151Pro) c.15437A>C (p.Gln5146Pro) c.15353A>C (p.Gln5118Pro) c.*466A>C (n.*466A>C) c.8651A>C (p.Gln2884Pro) c.8630A>C (p.Gln2877Pro) n.15528A>C | |
5 | g.90810772A>G | CA360409851 | ADGRV1 | c.15512A>G (p.Gln5171Arg) c.4466A>G (p.Gln1489Arg) n.2779A>G c.265+134563A>G (n.265+134563A>G) c.1922A>G (p.Gln641Arg) c.2495A>G (p.Gln832Arg) n.15525A>G c.15509A>G (p.Gln5170Arg) c.15431A>G (p.Gln5144Arg) c.12815A>G (p.Gln4272Arg) c.15533A>G (p.Gln5178Arg) c.15530A>G (p.Gln5177Arg) c.15452A>G (p.Gln5151Arg) c.15437A>G (p.Gln5146Arg) c.15353A>G (p.Gln5118Arg) c.*466A>G (n.*466A>G) c.8651A>G (p.Gln2884Arg) c.8630A>G (p.Gln2877Arg) n.15528A>G | |
5 | g.90810772A>T | CA360409852 | ADGRV1 | c.15512A>T (p.Gln5171Leu) c.4466A>T (p.Gln1489Leu) n.2779A>T c.265+134563A>T (n.265+134563A>T) c.1922A>T (p.Gln641Leu) c.2495A>T (p.Gln832Leu) n.15525A>T c.15509A>T (p.Gln5170Leu) c.15431A>T (p.Gln5144Leu) c.12815A>T (p.Gln4272Leu) c.15533A>T (p.Gln5178Leu) c.15530A>T (p.Gln5177Leu) c.15452A>T (p.Gln5151Leu) c.15437A>T (p.Gln5146Leu) c.15353A>T (p.Gln5118Leu) c.*466A>T (n.*466A>T) c.8651A>T (p.Gln2884Leu) c.8630A>T (p.Gln2877Leu) n.15528A>T | |
5 | g.90810773G>A | CA445468484 | ADGRV1 | c.15513G>A (p.Gln5171=) c.4467G>A (p.Gln1489=) n.2780G>A c.265+134564G>A (n.265+134564G>A) c.1923G>A (p.Gln641=) c.2496G>A (p.Gln832=) n.15526G>A c.15510G>A (p.Gln5170=) c.15432G>A (p.Gln5144=) c.12816G>A (p.Gln4272=) c.15534G>A (p.Gln5178=) c.15531G>A (p.Gln5177=) c.15453G>A (p.Gln5151=) c.15438G>A (p.Gln5146=) c.15354G>A (p.Gln5118=) c.*467G>A (n.*467G>A) c.8652G>A (p.Gln2884=) c.8631G>A (p.Gln2877=) n.15529G>A | gnomAD v4 |
5 | g.90810773G>C | CA360409856 | ADGRV1 | c.15513G>C (p.Gln5171His) c.4467G>C (p.Gln1489His) n.2780G>C c.265+134564G>C (n.265+134564G>C) c.1923G>C (p.Gln641His) c.2496G>C (p.Gln832His) n.15526G>C c.15510G>C (p.Gln5170His) c.15432G>C (p.Gln5144His) c.12816G>C (p.Gln4272His) c.15534G>C (p.Gln5178His) c.15531G>C (p.Gln5177His) c.15453G>C (p.Gln5151His) c.15438G>C (p.Gln5146His) c.15354G>C (p.Gln5118His) c.*467G>C (n.*467G>C) c.8652G>C (p.Gln2884His) c.8631G>C (p.Gln2877His) n.15529G>C | |
5 | g.90810773G>T | CA360409859 | ADGRV1 | c.15513G>T (p.Gln5171His) c.4467G>T (p.Gln1489His) n.2780G>T c.265+134564G>T (n.265+134564G>T) c.1923G>T (p.Gln641His) c.2496G>T (p.Gln832His) n.15526G>T c.15510G>T (p.Gln5170His) c.15432G>T (p.Gln5144His) c.12816G>T (p.Gln4272His) c.15534G>T (p.Gln5178His) c.15531G>T (p.Gln5177His) c.15453G>T (p.Gln5151His) c.15438G>T (p.Gln5146His) c.15354G>T (p.Gln5118His) c.*467G>T (n.*467G>T) c.8652G>T (p.Gln2884His) c.8631G>T (p.Gln2877His) n.15529G>T | |
5 | g.90810774C>A | CA360409861 | ADGRV1 | c.15514C>A (p.Pro5172Thr) c.4468C>A (p.Pro1490Thr) n.2781C>A c.265+134565C>A (n.265+134565C>A) c.1924C>A (p.Pro642Thr) c.2497C>A (p.Pro833Thr) n.15527C>A c.15511C>A (p.Pro5171Thr) c.15433C>A (p.Pro5145Thr) c.12817C>A (p.Pro4273Thr) c.15535C>A (p.Pro5179Thr) c.15532C>A (p.Pro5178Thr) c.15454C>A (p.Pro5152Thr) c.15439C>A (p.Pro5147Thr) c.15355C>A (p.Pro5119Thr) c.*468C>A (n.*468C>A) c.8653C>A (p.Pro2885Thr) c.8632C>A (p.Pro2878Thr) n.15530C>A | |
5 | g.90810774C>G | CA360409862 | ADGRV1 | c.15514C>G (p.Pro5172Ala) c.4468C>G (p.Pro1490Ala) n.2781C>G c.265+134565C>G (n.265+134565C>G) c.1924C>G (p.Pro642Ala) c.2497C>G (p.Pro833Ala) n.15527C>G c.15511C>G (p.Pro5171Ala) c.15433C>G (p.Pro5145Ala) c.12817C>G (p.Pro4273Ala) c.15535C>G (p.Pro5179Ala) c.15532C>G (p.Pro5178Ala) c.15454C>G (p.Pro5152Ala) c.15439C>G (p.Pro5147Ala) c.15355C>G (p.Pro5119Ala) c.*468C>G (n.*468C>G) c.8653C>G (p.Pro2885Ala) c.8632C>G (p.Pro2878Ala) n.15530C>G | |
5 | g.90810774C>T | CA360409864 | ADGRV1 | c.15514C>T (p.Pro5172Ser) c.4468C>T (p.Pro1490Ser) n.2781C>T c.265+134565C>T (n.265+134565C>T) c.1924C>T (p.Pro642Ser) c.2497C>T (p.Pro833Ser) n.15527C>T c.15511C>T (p.Pro5171Ser) c.15433C>T (p.Pro5145Ser) c.12817C>T (p.Pro4273Ser) c.15535C>T (p.Pro5179Ser) c.15532C>T (p.Pro5178Ser) c.15454C>T (p.Pro5152Ser) c.15439C>T (p.Pro5147Ser) c.15355C>T (p.Pro5119Ser) c.*468C>T (n.*468C>T) c.8653C>T (p.Pro2885Ser) c.8632C>T (p.Pro2878Ser) n.15530C>T | |
5 | g.90810775C>A | CA360409866 | ADGRV1 | c.15515C>A (p.Pro5172Gln) c.4469C>A (p.Pro1490Gln) n.2782C>A c.265+134566C>A (n.265+134566C>A) c.1925C>A (p.Pro642Gln) c.2498C>A (p.Pro833Gln) n.15528C>A c.15512C>A (p.Pro5171Gln) c.15434C>A (p.Pro5145Gln) c.12818C>A (p.Pro4273Gln) c.15536C>A (p.Pro5179Gln) c.15533C>A (p.Pro5178Gln) c.15455C>A (p.Pro5152Gln) c.15440C>A (p.Pro5147Gln) c.15356C>A (p.Pro5119Gln) c.*469C>A (n.*469C>A) c.8654C>A (p.Pro2885Gln) c.8633C>A (p.Pro2878Gln) n.15531C>A | |
5 | g.90810775C>G | CA360409870 | ADGRV1 | c.15515C>G (p.Pro5172Arg) c.4469C>G (p.Pro1490Arg) n.2782C>G c.265+134566C>G (n.265+134566C>G) c.1925C>G (p.Pro642Arg) c.2498C>G (p.Pro833Arg) n.15528C>G c.15512C>G (p.Pro5171Arg) c.15434C>G (p.Pro5145Arg) c.12818C>G (p.Pro4273Arg) c.15536C>G (p.Pro5179Arg) c.15533C>G (p.Pro5178Arg) c.15455C>G (p.Pro5152Arg) c.15440C>G (p.Pro5147Arg) c.15356C>G (p.Pro5119Arg) c.*469C>G (n.*469C>G) c.8654C>G (p.Pro2885Arg) c.8633C>G (p.Pro2878Arg) n.15531C>G | |
5 | g.90810775C>T | CA360409868 | ADGRV1 | c.15515C>T (p.Pro5172Leu) c.4469C>T (p.Pro1490Leu) n.2782C>T c.265+134566C>T (n.265+134566C>T) c.1925C>T (p.Pro642Leu) c.2498C>T (p.Pro833Leu) n.15528C>T c.15512C>T (p.Pro5171Leu) c.15434C>T (p.Pro5145Leu) c.12818C>T (p.Pro4273Leu) c.15536C>T (p.Pro5179Leu) c.15533C>T (p.Pro5178Leu) c.15455C>T (p.Pro5152Leu) c.15440C>T (p.Pro5147Leu) c.15356C>T (p.Pro5119Leu) c.*469C>T (n.*469C>T) c.8654C>T (p.Pro2885Leu) c.8633C>T (p.Pro2878Leu) n.15531C>T | |
5 | g.90810776A>C | CA445468495 | ADGRV1 | c.15516A>C (p.Pro5172=) c.4470A>C (p.Pro1490=) n.2783A>C c.265+134567A>C (n.265+134567A>C) c.1926A>C (p.Pro642=) c.2499A>C (p.Pro833=) n.15529A>C c.15513A>C (p.Pro5171=) c.15435A>C (p.Pro5145=) c.12819A>C (p.Pro4273=) c.15537A>C (p.Pro5179=) c.15534A>C (p.Pro5178=) c.15456A>C (p.Pro5152=) c.15441A>C (p.Pro5147=) c.15357A>C (p.Pro5119=) c.*470A>C (n.*470A>C) c.8655A>C (p.Pro2885=) c.8634A>C (p.Pro2878=) n.15532A>C | |
5 | g.90810776A>G | CA445468499 | ADGRV1 | c.15516A>G (p.Pro5172=) c.4470A>G (p.Pro1490=) n.2783A>G c.265+134567A>G (n.265+134567A>G) c.1926A>G (p.Pro642=) c.2499A>G (p.Pro833=) n.15529A>G c.15513A>G (p.Pro5171=) c.15435A>G (p.Pro5145=) c.12819A>G (p.Pro4273=) c.15537A>G (p.Pro5179=) c.15534A>G (p.Pro5178=) c.15456A>G (p.Pro5152=) c.15441A>G (p.Pro5147=) c.15357A>G (p.Pro5119=) c.*470A>G (n.*470A>G) c.8655A>G (p.Pro2885=) c.8634A>G (p.Pro2878=) n.15532A>G | |
5 | g.90810776A>T | CA445468497 | ADGRV1 | c.15516A>T (p.Pro5172=) c.4470A>T (p.Pro1490=) n.2783A>T c.265+134567A>T (n.265+134567A>T) c.1926A>T (p.Pro642=) c.2499A>T (p.Pro833=) n.15529A>T c.15513A>T (p.Pro5171=) c.15435A>T (p.Pro5145=) c.12819A>T (p.Pro4273=) c.15537A>T (p.Pro5179=) c.15534A>T (p.Pro5178=) c.15456A>T (p.Pro5152=) c.15441A>T (p.Pro5147=) c.15357A>T (p.Pro5119=) c.*470A>T (n.*470A>T) c.8655A>T (p.Pro2885=) c.8634A>T (p.Pro2878=) n.15532A>T | |
5 | g.90810777A= | CA1562911527 | ADGRV1 | c.15517A= (p.Thr5173=) c.4471A= (p.Thr1491=) n.2784A= c.265+134568A= (n.265+134568A=) c.1927A= (p.Thr643=) c.2500A= (p.Thr834=) n.15530A= c.15514A= (p.Thr5172=) c.15436A= (p.Thr5146=) c.12820A= (p.Thr4274=) c.15538A= (p.Thr5180=) c.15535A= (p.Thr5179=) c.15457A= (p.Thr5153=) c.15442A= (p.Thr5148=) c.15358A= (p.Thr5120=) c.*471A= (n.*471A=) c.8656A= (p.Thr2886=) c.8635A= (p.Thr2879=) n.15533A= | |
5 | g.90810777A>C | CA360409871 | ADGRV1 | c.15517A>C (p.Thr5173Pro) c.4471A>C (p.Thr1491Pro) n.2784A>C c.265+134568A>C (n.265+134568A>C) c.1927A>C (p.Thr643Pro) c.2500A>C (p.Thr834Pro) n.15530A>C c.15514A>C (p.Thr5172Pro) c.15436A>C (p.Thr5146Pro) c.12820A>C (p.Thr4274Pro) c.15538A>C (p.Thr5180Pro) c.15535A>C (p.Thr5179Pro) c.15457A>C (p.Thr5153Pro) c.15442A>C (p.Thr5148Pro) c.15358A>C (p.Thr5120Pro) c.*471A>C (n.*471A>C) c.8656A>C (p.Thr2886Pro) c.8635A>C (p.Thr2879Pro) n.15533A>C | |
5 | g.90810777A>G | CA3341936 | ADGRV1 | c.15517A>G (p.Thr5173Ala) c.4471A>G (p.Thr1491Ala) n.2784A>G c.265+134568A>G (n.265+134568A>G) c.1927A>G (p.Thr643Ala) c.2500A>G (p.Thr834Ala) n.15530A>G c.15514A>G (p.Thr5172Ala) c.15436A>G (p.Thr5146Ala) c.12820A>G (p.Thr4274Ala) c.15538A>G (p.Thr5180Ala) c.15535A>G (p.Thr5179Ala) c.15457A>G (p.Thr5153Ala) c.15442A>G (p.Thr5148Ala) c.15358A>G (p.Thr5120Ala) c.*471A>G (n.*471A>G) c.8656A>G (p.Thr2886Ala) c.8635A>G (p.Thr2879Ala) n.15533A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810777A>T | CA360409872 | ADGRV1 | c.15517A>T (p.Thr5173Ser) c.4471A>T (p.Thr1491Ser) n.2784A>T c.265+134568A>T (n.265+134568A>T) c.1927A>T (p.Thr643Ser) c.2500A>T (p.Thr834Ser) n.15530A>T c.15514A>T (p.Thr5172Ser) c.15436A>T (p.Thr5146Ser) c.12820A>T (p.Thr4274Ser) c.15538A>T (p.Thr5180Ser) c.15535A>T (p.Thr5179Ser) c.15457A>T (p.Thr5153Ser) c.15442A>T (p.Thr5148Ser) c.15358A>T (p.Thr5120Ser) c.*471A>T (n.*471A>T) c.8656A>T (p.Thr2886Ser) c.8635A>T (p.Thr2879Ser) n.15533A>T | |
5 | g.90810777_90810784dup | CA2674577084 | ADGRV1 | c.15517_15524dup (p.Val5176ProfsTer?) c.4471_4478dup (p.Val1494ProfsTer?) n.2784_2791dup c.265+134568_265+134575dup (n.265+134568_265+134575dup) c.1927_1934dup (p.Val646ProfsTer?) c.2500_2507dup (p.Val837ProfsTer?) n.15530_15537dup c.15514_15521dup (p.Val5175ProfsTer?) c.15436_15443dup (p.Val5149ProfsTer?) c.12820_12827dup (p.Val4277ProfsTer?) c.15538_15545dup (p.Val5183ProfsTer?) c.15535_15542dup (p.Val5182ProfsTer?) c.15457_15464dup (p.Val5156ProfsTer?) c.15442_15449dup (p.Val5151ProfsTer?) c.15358_15365dup (p.Val5123ProfsTer?) c.*471_*478dup (n.*471_*478dup) c.8656_8663dup (p.Val2889ProfsTer?) c.8635_8642dup (p.Val2882ProfsTer?) n.15533_15540dup | gnomAD v4 |
5 | g.90810778C>A | CA360409874 | ADGRV1 | c.15518C>A (p.Thr5173Asn) c.4472C>A (p.Thr1491Asn) n.2785C>A c.265+134569C>A (n.265+134569C>A) c.1928C>A (p.Thr643Asn) c.2501C>A (p.Thr834Asn) n.15531C>A c.15515C>A (p.Thr5172Asn) c.15437C>A (p.Thr5146Asn) c.12821C>A (p.Thr4274Asn) c.15539C>A (p.Thr5180Asn) c.15536C>A (p.Thr5179Asn) c.15458C>A (p.Thr5153Asn) c.15443C>A (p.Thr5148Asn) c.15359C>A (p.Thr5120Asn) c.*472C>A (n.*472C>A) c.8657C>A (p.Thr2886Asn) c.8636C>A (p.Thr2879Asn) n.15534C>A | |
5 | g.90810778C>G | CA360409877 | ADGRV1 | c.15518C>G (p.Thr5173Ser) c.4472C>G (p.Thr1491Ser) n.2785C>G c.265+134569C>G (n.265+134569C>G) c.1928C>G (p.Thr643Ser) c.2501C>G (p.Thr834Ser) n.15531C>G c.15515C>G (p.Thr5172Ser) c.15437C>G (p.Thr5146Ser) c.12821C>G (p.Thr4274Ser) c.15539C>G (p.Thr5180Ser) c.15536C>G (p.Thr5179Ser) c.15458C>G (p.Thr5153Ser) c.15443C>G (p.Thr5148Ser) c.15359C>G (p.Thr5120Ser) c.*472C>G (n.*472C>G) c.8657C>G (p.Thr2886Ser) c.8636C>G (p.Thr2879Ser) n.15534C>G | |
5 | g.90810778C>T | CA360409876 | ADGRV1 | c.15518C>T (p.Thr5173Ile) c.4472C>T (p.Thr1491Ile) n.2785C>T c.265+134569C>T (n.265+134569C>T) c.1928C>T (p.Thr643Ile) c.2501C>T (p.Thr834Ile) n.15531C>T c.15515C>T (p.Thr5172Ile) c.15437C>T (p.Thr5146Ile) c.12821C>T (p.Thr4274Ile) c.15539C>T (p.Thr5180Ile) c.15536C>T (p.Thr5179Ile) c.15458C>T (p.Thr5153Ile) c.15443C>T (p.Thr5148Ile) c.15359C>T (p.Thr5120Ile) c.*472C>T (n.*472C>T) c.8657C>T (p.Thr2886Ile) c.8636C>T (p.Thr2879Ile) n.15534C>T | gnomAD v4 |
5 | g.90810779C>A | CA445468516 | ADGRV1 | c.15519C>A (p.Thr5173=) c.4473C>A (p.Thr1491=) n.2786C>A c.265+134570C>A (n.265+134570C>A) c.1929C>A (p.Thr643=) c.2502C>A (p.Thr834=) n.15532C>A c.15516C>A (p.Thr5172=) c.15438C>A (p.Thr5146=) c.12822C>A (p.Thr4274=) c.15540C>A (p.Thr5180=) c.15537C>A (p.Thr5179=) c.15459C>A (p.Thr5153=) c.15444C>A (p.Thr5148=) c.15360C>A (p.Thr5120=) c.*473C>A (n.*473C>A) c.8658C>A (p.Thr2886=) c.8637C>A (p.Thr2879=) n.15535C>A | |
5 | g.90810779C= | CA1562911528 | ADGRV1 | c.15519C= (p.Thr5173=) c.4473C= (p.Thr1491=) n.2786C= c.265+134570C= (n.265+134570C=) c.1929C= (p.Thr643=) c.2502C= (p.Thr834=) n.15532C= c.15516C= (p.Thr5172=) c.15438C= (p.Thr5146=) c.12822C= (p.Thr4274=) c.15540C= (p.Thr5180=) c.15537C= (p.Thr5179=) c.15459C= (p.Thr5153=) c.15444C= (p.Thr5148=) c.15360C= (p.Thr5120=) c.*473C= (n.*473C=) c.8658C= (p.Thr2886=) c.8637C= (p.Thr2879=) n.15535C= | |
5 | g.90810779C>G | CA445468517 | ADGRV1 | c.15519C>G (p.Thr5173=) c.4473C>G (p.Thr1491=) n.2786C>G c.265+134570C>G (n.265+134570C>G) c.1929C>G (p.Thr643=) c.2502C>G (p.Thr834=) n.15532C>G c.15516C>G (p.Thr5172=) c.15438C>G (p.Thr5146=) c.12822C>G (p.Thr4274=) c.15540C>G (p.Thr5180=) c.15537C>G (p.Thr5179=) c.15459C>G (p.Thr5153=) c.15444C>G (p.Thr5148=) c.15360C>G (p.Thr5120=) c.*473C>G (n.*473C>G) c.8658C>G (p.Thr2886=) c.8637C>G (p.Thr2879=) n.15535C>G | |
5 | g.90810779C>T | CA445468518 | ADGRV1 | c.15519C>T (p.Thr5173=) c.4473C>T (p.Thr1491=) n.2786C>T c.265+134570C>T (n.265+134570C>T) c.1929C>T (p.Thr643=) c.2502C>T (p.Thr834=) n.15532C>T c.15516C>T (p.Thr5172=) c.15438C>T (p.Thr5146=) c.12822C>T (p.Thr4274=) c.15540C>T (p.Thr5180=) c.15537C>T (p.Thr5179=) c.15459C>T (p.Thr5153=) c.15444C>T (p.Thr5148=) c.15360C>T (p.Thr5120=) c.*473C>T (n.*473C>T) c.8658C>T (p.Thr2886=) c.8637C>T (p.Thr2879=) n.15535C>T | dbSNP |
5 | g.90810780A>C | CA360409879 | ADGRV1 | c.15520A>C (p.Asn5174His) c.4474A>C (p.Asn1492His) n.2787A>C c.265+134571A>C (n.265+134571A>C) c.1930A>C (p.Asn644His) c.2503A>C (p.Asn835His) n.15533A>C c.15517A>C (p.Asn5173His) c.15439A>C (p.Asn5147His) c.12823A>C (p.Asn4275His) c.15541A>C (p.Asn5181His) c.15538A>C (p.Asn5180His) c.15460A>C (p.Asn5154His) c.15445A>C (p.Asn5149His) c.15361A>C (p.Asn5121His) c.*474A>C (n.*474A>C) c.8659A>C (p.Asn2887His) c.8638A>C (p.Asn2880His) n.15536A>C | |
5 | g.90810780A>G | CA360409882 | ADGRV1 | c.15520A>G (p.Asn5174Asp) c.4474A>G (p.Asn1492Asp) n.2787A>G c.265+134571A>G (n.265+134571A>G) c.1930A>G (p.Asn644Asp) c.2503A>G (p.Asn835Asp) n.15533A>G c.15517A>G (p.Asn5173Asp) c.15439A>G (p.Asn5147Asp) c.12823A>G (p.Asn4275Asp) c.15541A>G (p.Asn5181Asp) c.15538A>G (p.Asn5180Asp) c.15460A>G (p.Asn5154Asp) c.15445A>G (p.Asn5149Asp) c.15361A>G (p.Asn5121Asp) c.*474A>G (n.*474A>G) c.8659A>G (p.Asn2887Asp) c.8638A>G (p.Asn2880Asp) n.15536A>G | |
5 | g.90810780A>T | CA360409880 | ADGRV1 | c.15520A>T (p.Asn5174Tyr) c.4474A>T (p.Asn1492Tyr) n.2787A>T c.265+134571A>T (n.265+134571A>T) c.1930A>T (p.Asn644Tyr) c.2503A>T (p.Asn835Tyr) n.15533A>T c.15517A>T (p.Asn5173Tyr) c.15439A>T (p.Asn5147Tyr) c.12823A>T (p.Asn4275Tyr) c.15541A>T (p.Asn5181Tyr) c.15538A>T (p.Asn5180Tyr) c.15460A>T (p.Asn5154Tyr) c.15445A>T (p.Asn5149Tyr) c.15361A>T (p.Asn5121Tyr) c.*474A>T (n.*474A>T) c.8659A>T (p.Asn2887Tyr) c.8638A>T (p.Asn2880Tyr) n.15536A>T | |
5 | g.90810781A>C | CA360409885 | ADGRV1 | c.15521A>C (p.Asn5174Thr) c.4475A>C (p.Asn1492Thr) n.2788A>C c.265+134572A>C (n.265+134572A>C) c.1931A>C (p.Asn644Thr) c.2504A>C (p.Asn835Thr) n.15534A>C c.15518A>C (p.Asn5173Thr) c.15440A>C (p.Asn5147Thr) c.12824A>C (p.Asn4275Thr) c.15542A>C (p.Asn5181Thr) c.15539A>C (p.Asn5180Thr) c.15461A>C (p.Asn5154Thr) c.15446A>C (p.Asn5149Thr) c.15362A>C (p.Asn5121Thr) c.*475A>C (n.*475A>C) c.8660A>C (p.Asn2887Thr) c.8639A>C (p.Asn2880Thr) n.15537A>C | |
5 | g.90810781A>G | CA360409888 | ADGRV1 | c.15521A>G (p.Asn5174Ser) c.4475A>G (p.Asn1492Ser) n.2788A>G c.265+134572A>G (n.265+134572A>G) c.1931A>G (p.Asn644Ser) c.2504A>G (p.Asn835Ser) n.15534A>G c.15518A>G (p.Asn5173Ser) c.15440A>G (p.Asn5147Ser) c.12824A>G (p.Asn4275Ser) c.15542A>G (p.Asn5181Ser) c.15539A>G (p.Asn5180Ser) c.15461A>G (p.Asn5154Ser) c.15446A>G (p.Asn5149Ser) c.15362A>G (p.Asn5121Ser) c.*475A>G (n.*475A>G) c.8660A>G (p.Asn2887Ser) c.8639A>G (p.Asn2880Ser) n.15537A>G | |
5 | g.90810781A>T | CA360409886 | ADGRV1 | c.15521A>T (p.Asn5174Ile) c.4475A>T (p.Asn1492Ile) n.2788A>T c.265+134572A>T (n.265+134572A>T) c.1931A>T (p.Asn644Ile) c.2504A>T (p.Asn835Ile) n.15534A>T c.15518A>T (p.Asn5173Ile) c.15440A>T (p.Asn5147Ile) c.12824A>T (p.Asn4275Ile) c.15542A>T (p.Asn5181Ile) c.15539A>T (p.Asn5180Ile) c.15461A>T (p.Asn5154Ile) c.15446A>T (p.Asn5149Ile) c.15362A>T (p.Asn5121Ile) c.*475A>T (n.*475A>T) c.8660A>T (p.Asn2887Ile) c.8639A>T (p.Asn2880Ile) n.15537A>T | |
5 | g.90810782C>A | CA360409890 | ADGRV1 | c.15522C>A (p.Asn5174Lys) c.4476C>A (p.Asn1492Lys) n.2789C>A c.265+134573C>A (n.265+134573C>A) c.1932C>A (p.Asn644Lys) c.2505C>A (p.Asn835Lys) n.15535C>A c.15519C>A (p.Asn5173Lys) c.15441C>A (p.Asn5147Lys) c.12825C>A (p.Asn4275Lys) c.15543C>A (p.Asn5181Lys) c.15540C>A (p.Asn5180Lys) c.15462C>A (p.Asn5154Lys) c.15447C>A (p.Asn5149Lys) c.15363C>A (p.Asn5121Lys) c.*476C>A (n.*476C>A) c.8661C>A (p.Asn2887Lys) c.8640C>A (p.Asn2880Lys) n.15538C>A | gnomAD v4 |
5 | g.90810782C= | CA1562911529 | ADGRV1 | c.15522C= (p.Asn5174=) c.4476C= (p.Asn1492=) n.2789C= c.265+134573C= (n.265+134573C=) c.1932C= (p.Asn644=) c.2505C= (p.Asn835=) n.15535C= c.15519C= (p.Asn5173=) c.15441C= (p.Asn5147=) c.12825C= (p.Asn4275=) c.15543C= (p.Asn5181=) c.15540C= (p.Asn5180=) c.15462C= (p.Asn5154=) c.15447C= (p.Asn5149=) c.15363C= (p.Asn5121=) c.*476C= (n.*476C=) c.8661C= (p.Asn2887=) c.8640C= (p.Asn2880=) n.15538C= | |
5 | g.90810782C>G | CA3341938 | ADGRV1 | c.15522C>G (p.Asn5174Lys) c.4476C>G (p.Asn1492Lys) n.2789C>G c.265+134573C>G (n.265+134573C>G) c.1932C>G (p.Asn644Lys) c.2505C>G (p.Asn835Lys) n.15535C>G c.15519C>G (p.Asn5173Lys) c.15441C>G (p.Asn5147Lys) c.12825C>G (p.Asn4275Lys) c.15543C>G (p.Asn5181Lys) c.15540C>G (p.Asn5180Lys) c.15462C>G (p.Asn5154Lys) c.15447C>G (p.Asn5149Lys) c.15363C>G (p.Asn5121Lys) c.*476C>G (n.*476C>G) c.8661C>G (p.Asn2887Lys) c.8640C>G (p.Asn2880Lys) n.15538C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90810782C>T | CA3341937 | ADGRV1 | c.15522C>T (p.Asn5174=) c.4476C>T (p.Asn1492=) n.2789C>T c.265+134573C>T (n.265+134573C>T) c.1932C>T (p.Asn644=) c.2505C>T (p.Asn835=) n.15535C>T c.15519C>T (p.Asn5173=) c.15441C>T (p.Asn5147=) c.12825C>T (p.Asn4275=) c.15543C>T (p.Asn5181=) c.15540C>T (p.Asn5180=) c.15462C>T (p.Asn5154=) c.15447C>T (p.Asn5149=) c.15363C>T (p.Asn5121=) c.*476C>T (n.*476C>T) c.8661C>T (p.Asn2887=) c.8640C>T (p.Asn2880=) n.15538C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810783G>A | CA3341939 | ADGRV1 | c.15523G>A (p.Val5175Met) c.4477G>A (p.Val1493Met) n.2790G>A c.265+134574G>A (n.265+134574G>A) c.1933G>A (p.Val645Met) c.2506G>A (p.Val836Met) n.15536G>A c.15520G>A (p.Val5174Met) c.15442G>A (p.Val5148Met) c.12826G>A (p.Val4276Met) c.15544G>A (p.Val5182Met) c.15541G>A (p.Val5181Met) c.15463G>A (p.Val5155Met) c.15448G>A (p.Val5150Met) c.15364G>A (p.Val5122Met) c.*477G>A (n.*477G>A) c.8662G>A (p.Val2888Met) c.8641G>A (p.Val2881Met) n.15539G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810783G>C | CA360409896 | ADGRV1 | c.15523G>C (p.Val5175Leu) c.4477G>C (p.Val1493Leu) n.2790G>C c.265+134574G>C (n.265+134574G>C) c.1933G>C (p.Val645Leu) c.2506G>C (p.Val836Leu) n.15536G>C c.15520G>C (p.Val5174Leu) c.15442G>C (p.Val5148Leu) c.12826G>C (p.Val4276Leu) c.15544G>C (p.Val5182Leu) c.15541G>C (p.Val5181Leu) c.15463G>C (p.Val5155Leu) c.15448G>C (p.Val5150Leu) c.15364G>C (p.Val5122Leu) c.*477G>C (n.*477G>C) c.8662G>C (p.Val2888Leu) c.8641G>C (p.Val2881Leu) n.15539G>C | |
5 | g.90810783G= | CA1562911530 | ADGRV1 | c.15523G= (p.Val5175=) c.4477G= (p.Val1493=) n.2790G= c.265+134574G= (n.265+134574G=) c.1933G= (p.Val645=) c.2506G= (p.Val836=) n.15536G= c.15520G= (p.Val5174=) c.15442G= (p.Val5148=) c.12826G= (p.Val4276=) c.15544G= (p.Val5182=) c.15541G= (p.Val5181=) c.15463G= (p.Val5155=) c.15448G= (p.Val5150=) c.15364G= (p.Val5122=) c.*477G= (n.*477G=) c.8662G= (p.Val2888=) c.8641G= (p.Val2881=) n.15539G= | |
5 | g.90810783G>T | CA360409894 | ADGRV1 | c.15523G>T (p.Val5175Leu) c.4477G>T (p.Val1493Leu) n.2790G>T c.265+134574G>T (n.265+134574G>T) c.1933G>T (p.Val645Leu) c.2506G>T (p.Val836Leu) n.15536G>T c.15520G>T (p.Val5174Leu) c.15442G>T (p.Val5148Leu) c.12826G>T (p.Val4276Leu) c.15544G>T (p.Val5182Leu) c.15541G>T (p.Val5181Leu) c.15463G>T (p.Val5155Leu) c.15448G>T (p.Val5150Leu) c.15364G>T (p.Val5122Leu) c.*477G>T (n.*477G>T) c.8662G>T (p.Val2888Leu) c.8641G>T (p.Val2881Leu) n.15539G>T | |
5 | g.90810784T>A | CA360409899 | ADGRV1 | c.15524T>A (p.Val5175Glu) c.4478T>A (p.Val1493Glu) n.2791T>A c.265+134575T>A (n.265+134575T>A) c.1934T>A (p.Val645Glu) c.2507T>A (p.Val836Glu) n.15537T>A c.15521T>A (p.Val5174Glu) c.15443T>A (p.Val5148Glu) c.12827T>A (p.Val4276Glu) c.15545T>A (p.Val5182Glu) c.15542T>A (p.Val5181Glu) c.15464T>A (p.Val5155Glu) c.15449T>A (p.Val5150Glu) c.15365T>A (p.Val5122Glu) c.*478T>A (n.*478T>A) c.8663T>A (p.Val2888Glu) c.8642T>A (p.Val2881Glu) n.15540T>A | |
5 | g.90810784T>C | CA360409901 | ADGRV1 | c.15524T>C (p.Val5175Ala) c.4478T>C (p.Val1493Ala) n.2791T>C c.265+134575T>C (n.265+134575T>C) c.1934T>C (p.Val645Ala) c.2507T>C (p.Val836Ala) n.15537T>C c.15521T>C (p.Val5174Ala) c.15443T>C (p.Val5148Ala) c.12827T>C (p.Val4276Ala) c.15545T>C (p.Val5182Ala) c.15542T>C (p.Val5181Ala) c.15464T>C (p.Val5155Ala) c.15449T>C (p.Val5150Ala) c.15365T>C (p.Val5122Ala) c.*478T>C (n.*478T>C) c.8663T>C (p.Val2888Ala) c.8642T>C (p.Val2881Ala) n.15540T>C | |
5 | g.90810784T>G | CA360409900 | ADGRV1 | c.15524T>G (p.Val5175Gly) c.4478T>G (p.Val1493Gly) n.2791T>G c.265+134575T>G (n.265+134575T>G) c.1934T>G (p.Val645Gly) c.2507T>G (p.Val836Gly) n.15537T>G c.15521T>G (p.Val5174Gly) c.15443T>G (p.Val5148Gly) c.12827T>G (p.Val4276Gly) c.15545T>G (p.Val5182Gly) c.15542T>G (p.Val5181Gly) c.15464T>G (p.Val5155Gly) c.15449T>G (p.Val5150Gly) c.15365T>G (p.Val5122Gly) c.*478T>G (n.*478T>G) c.8663T>G (p.Val2888Gly) c.8642T>G (p.Val2881Gly) n.15540T>G | |
5 | g.90810785G>A | CA445468545 | ADGRV1 | c.15525G>A (p.Val5175=) c.4479G>A (p.Val1493=) n.2792G>A c.265+134576G>A (n.265+134576G>A) c.1935G>A (p.Val645=) c.2508G>A (p.Val836=) n.15538G>A c.15522G>A (p.Val5174=) c.15444G>A (p.Val5148=) c.12828G>A (p.Val4276=) c.15546G>A (p.Val5182=) c.15543G>A (p.Val5181=) c.15465G>A (p.Val5155=) c.15450G>A (p.Val5150=) c.15366G>A (p.Val5122=) c.*479G>A (n.*479G>A) c.8664G>A (p.Val2888=) c.8643G>A (p.Val2881=) n.15541G>A | gnomAD v4 |
5 | g.90810785G>C | CA445468546 | ADGRV1 | c.15525G>C (p.Val5175=) c.4479G>C (p.Val1493=) n.2792G>C c.265+134576G>C (n.265+134576G>C) c.1935G>C (p.Val645=) c.2508G>C (p.Val836=) n.15538G>C c.15522G>C (p.Val5174=) c.15444G>C (p.Val5148=) c.12828G>C (p.Val4276=) c.15546G>C (p.Val5182=) c.15543G>C (p.Val5181=) c.15465G>C (p.Val5155=) c.15450G>C (p.Val5150=) c.15366G>C (p.Val5122=) c.*479G>C (n.*479G>C) c.8664G>C (p.Val2888=) c.8643G>C (p.Val2881=) n.15541G>C | |
5 | g.90810785G>T | CA445468553 | ADGRV1 | c.15525G>T (p.Val5175=) c.4479G>T (p.Val1493=) n.2792G>T c.265+134576G>T (n.265+134576G>T) c.1935G>T (p.Val645=) c.2508G>T (p.Val836=) n.15538G>T c.15522G>T (p.Val5174=) c.15444G>T (p.Val5148=) c.12828G>T (p.Val4276=) c.15546G>T (p.Val5182=) c.15543G>T (p.Val5181=) c.15465G>T (p.Val5155=) c.15450G>T (p.Val5150=) c.15366G>T (p.Val5122=) c.*479G>T (n.*479G>T) c.8664G>T (p.Val2888=) c.8643G>T (p.Val2881=) n.15541G>T | |
5 | g.90810786G>A | CA360409903 | ADGRV1 | c.15526G>A (p.Val5176Ile) c.4480G>A (p.Val1494Ile) n.2793G>A c.265+134577G>A (n.265+134577G>A) c.1936G>A (p.Val646Ile) c.2509G>A (p.Val837Ile) n.15539G>A c.15523G>A (p.Val5175Ile) c.15445G>A (p.Val5149Ile) c.12829G>A (p.Val4277Ile) c.15547G>A (p.Val5183Ile) c.15544G>A (p.Val5182Ile) c.15466G>A (p.Val5156Ile) c.15451G>A (p.Val5151Ile) c.15367G>A (p.Val5123Ile) c.*480G>A (n.*480G>A) c.8665G>A (p.Val2889Ile) c.8644G>A (p.Val2882Ile) n.15542G>A | COSMIC |
5 | g.90810786G>C | CA360409907 | ADGRV1 | c.15526G>C (p.Val5176Leu) c.4480G>C (p.Val1494Leu) n.2793G>C c.265+134577G>C (n.265+134577G>C) c.1936G>C (p.Val646Leu) c.2509G>C (p.Val837Leu) n.15539G>C c.15523G>C (p.Val5175Leu) c.15445G>C (p.Val5149Leu) c.12829G>C (p.Val4277Leu) c.15547G>C (p.Val5183Leu) c.15544G>C (p.Val5182Leu) c.15466G>C (p.Val5156Leu) c.15451G>C (p.Val5151Leu) c.15367G>C (p.Val5123Leu) c.*480G>C (n.*480G>C) c.8665G>C (p.Val2889Leu) c.8644G>C (p.Val2882Leu) n.15542G>C | |
5 | g.90810786G>T | CA360409905 | ADGRV1 | c.15526G>T (p.Val5176Phe) c.4480G>T (p.Val1494Phe) n.2793G>T c.265+134577G>T (n.265+134577G>T) c.1936G>T (p.Val646Phe) c.2509G>T (p.Val837Phe) n.15539G>T c.15523G>T (p.Val5175Phe) c.15445G>T (p.Val5149Phe) c.12829G>T (p.Val4277Phe) c.15547G>T (p.Val5183Phe) c.15544G>T (p.Val5182Phe) c.15466G>T (p.Val5156Phe) c.15451G>T (p.Val5151Phe) c.15367G>T (p.Val5123Phe) c.*480G>T (n.*480G>T) c.8665G>T (p.Val2889Phe) c.8644G>T (p.Val2882Phe) n.15542G>T | |
5 | g.90810787T>A | CA360409909 | ADGRV1 | c.15527T>A (p.Val5176Asp) c.4481T>A (p.Val1494Asp) n.2794T>A c.265+134578T>A (n.265+134578T>A) c.1937T>A (p.Val646Asp) c.2510T>A (p.Val837Asp) n.15540T>A c.15524T>A (p.Val5175Asp) c.15446T>A (p.Val5149Asp) c.12830T>A (p.Val4277Asp) c.15548T>A (p.Val5183Asp) c.15545T>A (p.Val5182Asp) c.15467T>A (p.Val5156Asp) c.15452T>A (p.Val5151Asp) c.15368T>A (p.Val5123Asp) c.*481T>A (n.*481T>A) c.8666T>A (p.Val2889Asp) c.8645T>A (p.Val2882Asp) n.15543T>A | |
5 | g.90810787T>C | CA3341940 | ADGRV1 | c.15527T>C (p.Val5176Ala) c.4481T>C (p.Val1494Ala) n.2794T>C c.265+134578T>C (n.265+134578T>C) c.1937T>C (p.Val646Ala) c.2510T>C (p.Val837Ala) n.15540T>C c.15524T>C (p.Val5175Ala) c.15446T>C (p.Val5149Ala) c.12830T>C (p.Val4277Ala) c.15548T>C (p.Val5183Ala) c.15545T>C (p.Val5182Ala) c.15467T>C (p.Val5156Ala) c.15452T>C (p.Val5151Ala) c.15368T>C (p.Val5123Ala) c.*481T>C (n.*481T>C) c.8666T>C (p.Val2889Ala) c.8645T>C (p.Val2882Ala) n.15543T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90810787T>G | CA360409911 | ADGRV1 | c.15527T>G (p.Val5176Gly) c.4481T>G (p.Val1494Gly) n.2794T>G c.265+134578T>G (n.265+134578T>G) c.1937T>G (p.Val646Gly) c.2510T>G (p.Val837Gly) n.15540T>G c.15524T>G (p.Val5175Gly) c.15446T>G (p.Val5149Gly) c.12830T>G (p.Val4277Gly) c.15548T>G (p.Val5183Gly) c.15545T>G (p.Val5182Gly) c.15467T>G (p.Val5156Gly) c.15452T>G (p.Val5151Gly) c.15368T>G (p.Val5123Gly) c.*481T>G (n.*481T>G) c.8666T>G (p.Val2889Gly) c.8645T>G (p.Val2882Gly) n.15543T>G | |
5 | g.90810787T= | CA1562911531 | ADGRV1 | c.15527T= (p.Val5176=) c.4481T= (p.Val1494=) n.2794T= c.265+134578T= (n.265+134578T=) c.1937T= (p.Val646=) c.2510T= (p.Val837=) n.15540T= c.15524T= (p.Val5175=) c.15446T= (p.Val5149=) c.12830T= (p.Val4277=) c.15548T= (p.Val5183=) c.15545T= (p.Val5182=) c.15467T= (p.Val5156=) c.15452T= (p.Val5151=) c.15368T= (p.Val5123=) c.*481T= (n.*481T=) c.8666T= (p.Val2889=) c.8645T= (p.Val2882=) n.15543T= | |
5 | g.90810788T>A | CA445468568 | ADGRV1 | c.15528T>A (p.Val5176=) c.4482T>A (p.Val1494=) n.2795T>A c.265+134579T>A (n.265+134579T>A) c.1938T>A (p.Val646=) c.2511T>A (p.Val837=) n.15541T>A c.15525T>A (p.Val5175=) c.15447T>A (p.Val5149=) c.12831T>A (p.Val4277=) c.15549T>A (p.Val5183=) c.15546T>A (p.Val5182=) c.15468T>A (p.Val5156=) c.15453T>A (p.Val5151=) c.15369T>A (p.Val5123=) c.*482T>A (n.*482T>A) c.8667T>A (p.Val2889=) c.8646T>A (p.Val2882=) n.15544T>A | |
5 | g.90810788T>C | CA3341941 | ADGRV1 | c.15528T>C (p.Val5176=) c.4482T>C (p.Val1494=) n.2795T>C c.265+134579T>C (n.265+134579T>C) c.1938T>C (p.Val646=) c.2511T>C (p.Val837=) n.15541T>C c.15525T>C (p.Val5175=) c.15447T>C (p.Val5149=) c.12831T>C (p.Val4277=) c.15549T>C (p.Val5183=) c.15546T>C (p.Val5182=) c.15468T>C (p.Val5156=) c.15453T>C (p.Val5151=) c.15369T>C (p.Val5123=) c.*482T>C (n.*482T>C) c.8667T>C (p.Val2889=) c.8646T>C (p.Val2882=) n.15544T>C | dbSNP ExAC gnomAD v2 |
5 | g.90810788T>G | CA445468569 | ADGRV1 | c.15528T>G (p.Val5176=) c.4482T>G (p.Val1494=) n.2795T>G c.265+134579T>G (n.265+134579T>G) c.1938T>G (p.Val646=) c.2511T>G (p.Val837=) n.15541T>G c.15525T>G (p.Val5175=) c.15447T>G (p.Val5149=) c.12831T>G (p.Val4277=) c.15549T>G (p.Val5183=) c.15546T>G (p.Val5182=) c.15468T>G (p.Val5156=) c.15453T>G (p.Val5151=) c.15369T>G (p.Val5123=) c.*482T>G (n.*482T>G) c.8667T>G (p.Val2889=) c.8646T>G (p.Val2882=) n.15544T>G | |
5 | g.90810788T= | CA1562911532 | ADGRV1 | c.15528T= (p.Val5176=) c.4482T= (p.Val1494=) n.2795T= c.265+134579T= (n.265+134579T=) c.1938T= (p.Val646=) c.2511T= (p.Val837=) n.15541T= c.15525T= (p.Val5175=) c.15447T= (p.Val5149=) c.12831T= (p.Val4277=) c.15549T= (p.Val5183=) c.15546T= (p.Val5182=) c.15468T= (p.Val5156=) c.15453T= (p.Val5151=) c.15369T= (p.Val5123=) c.*482T= (n.*482T=) c.8667T= (p.Val2889=) c.8646T= (p.Val2882=) n.15544T= | |
5 | g.90810789G>A | CA360409916 | ADGRV1 | c.15529G>A (p.Ala5177Thr) c.4483G>A (p.Ala1495Thr) n.2796G>A c.265+134580G>A (n.265+134580G>A) c.1939G>A (p.Ala647Thr) c.2512G>A (p.Ala838Thr) n.15542G>A c.15526G>A (p.Ala5176Thr) c.15448G>A (p.Ala5150Thr) c.12832G>A (p.Ala4278Thr) c.15550G>A (p.Ala5184Thr) c.15547G>A (p.Ala5183Thr) c.15469G>A (p.Ala5157Thr) c.15454G>A (p.Ala5152Thr) c.15370G>A (p.Ala5124Thr) c.*483G>A (n.*483G>A) c.8668G>A (p.Ala2890Thr) c.8647G>A (p.Ala2883Thr) n.15545G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810789G>C | CA360409914 | ADGRV1 | c.15529G>C (p.Ala5177Pro) c.4483G>C (p.Ala1495Pro) n.2796G>C c.265+134580G>C (n.265+134580G>C) c.1939G>C (p.Ala647Pro) c.2512G>C (p.Ala838Pro) n.15542G>C c.15526G>C (p.Ala5176Pro) c.15448G>C (p.Ala5150Pro) c.12832G>C (p.Ala4278Pro) c.15550G>C (p.Ala5184Pro) c.15547G>C (p.Ala5183Pro) c.15469G>C (p.Ala5157Pro) c.15454G>C (p.Ala5152Pro) c.15370G>C (p.Ala5124Pro) c.*483G>C (n.*483G>C) c.8668G>C (p.Ala2890Pro) c.8647G>C (p.Ala2883Pro) n.15545G>C | |
5 | g.90810789G= | CA1562911533 | ADGRV1 | c.15529G= (p.Ala5177=) c.4483G= (p.Ala1495=) n.2796G= c.265+134580G= (n.265+134580G=) c.1939G= (p.Ala647=) c.2512G= (p.Ala838=) n.15542G= c.15526G= (p.Ala5176=) c.15448G= (p.Ala5150=) c.12832G= (p.Ala4278=) c.15550G= (p.Ala5184=) c.15547G= (p.Ala5183=) c.15469G= (p.Ala5157=) c.15454G= (p.Ala5152=) c.15370G= (p.Ala5124=) c.*483G= (n.*483G=) c.8668G= (p.Ala2890=) c.8647G= (p.Ala2883=) n.15545G= | |
5 | g.90810789G>T | CA360409918 | ADGRV1 | c.15529G>T (p.Ala5177Ser) c.4483G>T (p.Ala1495Ser) n.2796G>T c.265+134580G>T (n.265+134580G>T) c.1939G>T (p.Ala647Ser) c.2512G>T (p.Ala838Ser) n.15542G>T c.15526G>T (p.Ala5176Ser) c.15448G>T (p.Ala5150Ser) c.12832G>T (p.Ala4278Ser) c.15550G>T (p.Ala5184Ser) c.15547G>T (p.Ala5183Ser) c.15469G>T (p.Ala5157Ser) c.15454G>T (p.Ala5152Ser) c.15370G>T (p.Ala5124Ser) c.*483G>T (n.*483G>T) c.8668G>T (p.Ala2890Ser) c.8647G>T (p.Ala2883Ser) n.15545G>T | gnomAD v4 |
5 | g.90810790C>A | CA360409920 | ADGRV1 | c.15530C>A (p.Ala5177Asp) c.4484C>A (p.Ala1495Asp) n.2797C>A c.265+134581C>A (n.265+134581C>A) c.1940C>A (p.Ala647Asp) c.2513C>A (p.Ala838Asp) n.15543C>A c.15527C>A (p.Ala5176Asp) c.15449C>A (p.Ala5150Asp) c.12833C>A (p.Ala4278Asp) c.15551C>A (p.Ala5184Asp) c.15548C>A (p.Ala5183Asp) c.15470C>A (p.Ala5157Asp) c.15455C>A (p.Ala5152Asp) c.15371C>A (p.Ala5124Asp) c.*484C>A (n.*484C>A) c.8669C>A (p.Ala2890Asp) c.8648C>A (p.Ala2883Asp) n.15546C>A | |
5 | g.90810790C>G | CA360409924 | ADGRV1 | c.15530C>G (p.Ala5177Gly) c.4484C>G (p.Ala1495Gly) n.2797C>G c.265+134581C>G (n.265+134581C>G) c.1940C>G (p.Ala647Gly) c.2513C>G (p.Ala838Gly) n.15543C>G c.15527C>G (p.Ala5176Gly) c.15449C>G (p.Ala5150Gly) c.12833C>G (p.Ala4278Gly) c.15551C>G (p.Ala5184Gly) c.15548C>G (p.Ala5183Gly) c.15470C>G (p.Ala5157Gly) c.15455C>G (p.Ala5152Gly) c.15371C>G (p.Ala5124Gly) c.*484C>G (n.*484C>G) c.8669C>G (p.Ala2890Gly) c.8648C>G (p.Ala2883Gly) n.15546C>G | |
5 | g.90810790C>T | CA360409922 | ADGRV1 | c.15530C>T (p.Ala5177Val) c.4484C>T (p.Ala1495Val) n.2797C>T c.265+134581C>T (n.265+134581C>T) c.1940C>T (p.Ala647Val) c.2513C>T (p.Ala838Val) n.15543C>T c.15527C>T (p.Ala5176Val) c.15449C>T (p.Ala5150Val) c.12833C>T (p.Ala4278Val) c.15551C>T (p.Ala5184Val) c.15548C>T (p.Ala5183Val) c.15470C>T (p.Ala5157Val) c.15455C>T (p.Ala5152Val) c.15371C>T (p.Ala5124Val) c.*484C>T (n.*484C>T) c.8669C>T (p.Ala2890Val) c.8648C>T (p.Ala2883Val) n.15546C>T | |
5 | g.90810791C>A | CA445468579 | ADGRV1 | c.15531C>A (p.Ala5177=) c.4485C>A (p.Ala1495=) n.2798C>A c.265+134582C>A (n.265+134582C>A) c.1941C>A (p.Ala647=) c.2514C>A (p.Ala838=) n.15544C>A c.15528C>A (p.Ala5176=) c.15450C>A (p.Ala5150=) c.12834C>A (p.Ala4278=) c.15552C>A (p.Ala5184=) c.15549C>A (p.Ala5183=) c.15471C>A (p.Ala5157=) c.15456C>A (p.Ala5152=) c.15372C>A (p.Ala5124=) c.*485C>A (n.*485C>A) c.8670C>A (p.Ala2890=) c.8649C>A (p.Ala2883=) n.15547C>A | |
5 | g.90810791C>G | CA445468585 | ADGRV1 | c.15531C>G (p.Ala5177=) c.4485C>G (p.Ala1495=) n.2798C>G c.265+134582C>G (n.265+134582C>G) c.1941C>G (p.Ala647=) c.2514C>G (p.Ala838=) n.15544C>G c.15528C>G (p.Ala5176=) c.15450C>G (p.Ala5150=) c.12834C>G (p.Ala4278=) c.15552C>G (p.Ala5184=) c.15549C>G (p.Ala5183=) c.15471C>G (p.Ala5157=) c.15456C>G (p.Ala5152=) c.15372C>G (p.Ala5124=) c.*485C>G (n.*485C>G) c.8670C>G (p.Ala2890=) c.8649C>G (p.Ala2883=) n.15547C>G | |
5 | g.90810791C>T | CA445468586 | ADGRV1 | c.15531C>T (p.Ala5177=) c.4485C>T (p.Ala1495=) n.2798C>T c.265+134582C>T (n.265+134582C>T) c.1941C>T (p.Ala647=) c.2514C>T (p.Ala838=) n.15544C>T c.15528C>T (p.Ala5176=) c.15450C>T (p.Ala5150=) c.12834C>T (p.Ala4278=) c.15552C>T (p.Ala5184=) c.15549C>T (p.Ala5183=) c.15471C>T (p.Ala5157=) c.15456C>T (p.Ala5152=) c.15372C>T (p.Ala5124=) c.*485C>T (n.*485C>T) c.8670C>T (p.Ala2890=) c.8649C>T (p.Ala2883=) n.15547C>T | |
5 | g.90810791_90810792del | CA2674577085 | ADGRV1 | c.15531_15532del (p.Ile5178CysfsTer3) c.4485_4486del (p.Ile1496CysfsTer3) n.2798_2799del c.265+134582_265+134583del (n.265+134582_265+134583del) c.1941_1942del (p.Ile648CysfsTer3) c.2514_2515del (p.Ile839CysfsTer3) n.15544_15545del c.15528_15529del (p.Ile5177CysfsTer3) c.15450_15451del (p.Ile5151CysfsTer3) c.12834_12835del (p.Ile4279CysfsTer3) c.15552_15553del (p.Ile5185CysfsTer3) c.15549_15550del (p.Ile5184CysfsTer3) c.15471_15472del (p.Ile5158CysfsTer3) c.15456_15457del (p.Ile5153CysfsTer3) c.15372_15373del (p.Ile5125CysfsTer3) c.*485_*486del (n.*485_*486del) c.8670_8671del (p.Ile2891CysfsTer3) c.8649_8650del (p.Ile2884CysfsTer3) n.15547_15548del | gnomAD v4 |
5 | g.90810792del | CA2674577086 | ADGRV1 | c.15532del (p.Ile5178LeufsTer?) c.4486del (p.Ile1496LeufsTer?) n.2799del c.265+134583del (n.265+134583del) c.1942del (p.Ile648LeufsTer?) c.2515del (p.Ile839LeufsTer?) n.15545del c.15529del (p.Ile5177LeufsTer?) c.15451del (p.Ile5151LeufsTer?) c.12835del (p.Ile4279LeufsTer?) c.15553del (p.Ile5185LeufsTer?) c.15550del (p.Ile5184LeufsTer?) c.15472del (p.Ile5158LeufsTer?) c.15457del (p.Ile5153LeufsTer?) c.15373del (p.Ile5125LeufsTer?) c.*486del (n.*486del) c.8671del (p.Ile2891LeufsTer?) c.8650del (p.Ile2884LeufsTer?) n.15548del | gnomAD v4 |
5 | g.90810792A= | CA1562911534 | ADGRV1 | c.15532A= (p.Ile5178=) c.4486A= (p.Ile1496=) n.2799A= c.265+134583A= (n.265+134583A=) c.1942A= (p.Ile648=) c.2515A= (p.Ile839=) n.15545A= c.15529A= (p.Ile5177=) c.15451A= (p.Ile5151=) c.12835A= (p.Ile4279=) c.15553A= (p.Ile5185=) c.15550A= (p.Ile5184=) c.15472A= (p.Ile5158=) c.15457A= (p.Ile5153=) c.15373A= (p.Ile5125=) c.*486A= (n.*486A=) c.8671A= (p.Ile2891=) c.8650A= (p.Ile2884=) n.15548A= | |
5 | g.90810792A>C | CA360409926 | ADGRV1 | c.15532A>C (p.Ile5178Leu) c.4486A>C (p.Ile1496Leu) n.2799A>C c.265+134583A>C (n.265+134583A>C) c.1942A>C (p.Ile648Leu) c.2515A>C (p.Ile839Leu) n.15545A>C c.15529A>C (p.Ile5177Leu) c.15451A>C (p.Ile5151Leu) c.12835A>C (p.Ile4279Leu) c.15553A>C (p.Ile5185Leu) c.15550A>C (p.Ile5184Leu) c.15472A>C (p.Ile5158Leu) c.15457A>C (p.Ile5153Leu) c.15373A>C (p.Ile5125Leu) c.*486A>C (n.*486A>C) c.8671A>C (p.Ile2891Leu) c.8650A>C (p.Ile2884Leu) n.15548A>C | |
5 | g.90810792A>G | CA360409928 | ADGRV1 | c.15532A>G (p.Ile5178Val) c.4486A>G (p.Ile1496Val) n.2799A>G c.265+134583A>G (n.265+134583A>G) c.1942A>G (p.Ile648Val) c.2515A>G (p.Ile839Val) n.15545A>G c.15529A>G (p.Ile5177Val) c.15451A>G (p.Ile5151Val) c.12835A>G (p.Ile4279Val) c.15553A>G (p.Ile5185Val) c.15550A>G (p.Ile5184Val) c.15472A>G (p.Ile5158Val) c.15457A>G (p.Ile5153Val) c.15373A>G (p.Ile5125Val) c.*486A>G (n.*486A>G) c.8671A>G (p.Ile2891Val) c.8650A>G (p.Ile2884Val) n.15548A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90810792A>T | CA360409929 | ADGRV1 | c.15532A>T (p.Ile5178Phe) c.4486A>T (p.Ile1496Phe) n.2799A>T c.265+134583A>T (n.265+134583A>T) c.1942A>T (p.Ile648Phe) c.2515A>T (p.Ile839Phe) n.15545A>T c.15529A>T (p.Ile5177Phe) c.15451A>T (p.Ile5151Phe) c.12835A>T (p.Ile4279Phe) c.15553A>T (p.Ile5185Phe) c.15550A>T (p.Ile5184Phe) c.15472A>T (p.Ile5158Phe) c.15457A>T (p.Ile5153Phe) c.15373A>T (p.Ile5125Phe) c.*486A>T (n.*486A>T) c.8671A>T (p.Ile2891Phe) c.8650A>T (p.Ile2884Phe) n.15548A>T | |
5 | g.90810793T>A | CA360409932 | ADGRV1 | c.15533T>A (p.Ile5178Asn) c.4487T>A (p.Ile1496Asn) n.2800T>A c.265+134584T>A (n.265+134584T>A) c.1943T>A (p.Ile648Asn) c.2516T>A (p.Ile839Asn) n.15546T>A c.15530T>A (p.Ile5177Asn) c.15452T>A (p.Ile5151Asn) c.12836T>A (p.Ile4279Asn) c.15554T>A (p.Ile5185Asn) c.15551T>A (p.Ile5184Asn) c.15473T>A (p.Ile5158Asn) c.15458T>A (p.Ile5153Asn) c.15374T>A (p.Ile5125Asn) c.*487T>A (n.*487T>A) c.8672T>A (p.Ile2891Asn) c.8651T>A (p.Ile2884Asn) n.15549T>A | |
5 | g.90810793T>C | CA3341942 | ADGRV1 | c.15533T>C (p.Ile5178Thr) c.4487T>C (p.Ile1496Thr) n.2800T>C c.265+134584T>C (n.265+134584T>C) c.1943T>C (p.Ile648Thr) c.2516T>C (p.Ile839Thr) n.15546T>C c.15530T>C (p.Ile5177Thr) c.15452T>C (p.Ile5151Thr) c.12836T>C (p.Ile4279Thr) c.15554T>C (p.Ile5185Thr) c.15551T>C (p.Ile5184Thr) c.15473T>C (p.Ile5158Thr) c.15458T>C (p.Ile5153Thr) c.15374T>C (p.Ile5125Thr) c.*487T>C (n.*487T>C) c.8672T>C (p.Ile2891Thr) c.8651T>C (p.Ile2884Thr) n.15549T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90810793T>G | CA360409935 | ADGRV1 | c.15533T>G (p.Ile5178Ser) c.4487T>G (p.Ile1496Ser) n.2800T>G c.265+134584T>G (n.265+134584T>G) c.1943T>G (p.Ile648Ser) c.2516T>G (p.Ile839Ser) n.15546T>G c.15530T>G (p.Ile5177Ser) c.15452T>G (p.Ile5151Ser) c.12836T>G (p.Ile4279Ser) c.15554T>G (p.Ile5185Ser) c.15551T>G (p.Ile5184Ser) c.15473T>G (p.Ile5158Ser) c.15458T>G (p.Ile5153Ser) c.15374T>G (p.Ile5125Ser) c.*487T>G (n.*487T>G) c.8672T>G (p.Ile2891Ser) c.8651T>G (p.Ile2884Ser) n.15549T>G | |
5 | g.90810793T= | CA1562911535 | ADGRV1 | c.15533T= (p.Ile5178=) c.4487T= (p.Ile1496=) n.2800T= c.265+134584T= (n.265+134584T=) c.1943T= (p.Ile648=) c.2516T= (p.Ile839=) n.15546T= c.15530T= (p.Ile5177=) c.15452T= (p.Ile5151=) c.12836T= (p.Ile4279=) c.15554T= (p.Ile5185=) c.15551T= (p.Ile5184=) c.15473T= (p.Ile5158=) c.15458T= (p.Ile5153=) c.15374T= (p.Ile5125=) c.*487T= (n.*487T=) c.8672T= (p.Ile2891=) c.8651T= (p.Ile2884=) n.15549T= | |
5 | g.90810794T>A | CA445468601 | ADGRV1 | c.15534T>A (p.Ile5178=) c.4488T>A (p.Ile1496=) n.2801T>A c.265+134585T>A (n.265+134585T>A) c.1944T>A (p.Ile648=) c.2517T>A (p.Ile839=) n.15547T>A c.15531T>A (p.Ile5177=) c.15453T>A (p.Ile5151=) c.12837T>A (p.Ile4279=) c.15555T>A (p.Ile5185=) c.15552T>A (p.Ile5184=) c.15474T>A (p.Ile5158=) c.15459T>A (p.Ile5153=) c.15375T>A (p.Ile5125=) c.*488T>A (n.*488T>A) c.8673T>A (p.Ile2891=) c.8652T>A (p.Ile2884=) n.15550T>A | |
5 | g.90810794T>C | CA445468602 | ADGRV1 | c.15534T>C (p.Ile5178=) c.4488T>C (p.Ile1496=) n.2801T>C c.265+134585T>C (n.265+134585T>C) c.1944T>C (p.Ile648=) c.2517T>C (p.Ile839=) n.15547T>C c.15531T>C (p.Ile5177=) c.15453T>C (p.Ile5151=) c.12837T>C (p.Ile4279=) c.15555T>C (p.Ile5185=) c.15552T>C (p.Ile5184=) c.15474T>C (p.Ile5158=) c.15459T>C (p.Ile5153=) c.15375T>C (p.Ile5125=) c.*488T>C (n.*488T>C) c.8673T>C (p.Ile2891=) c.8652T>C (p.Ile2884=) n.15550T>C | |
5 | g.90810794T>G | CA360409938 | ADGRV1 | c.15534T>G (p.Ile5178Met) c.4488T>G (p.Ile1496Met) n.2801T>G c.265+134585T>G (n.265+134585T>G) c.1944T>G (p.Ile648Met) c.2517T>G (p.Ile839Met) n.15547T>G c.15531T>G (p.Ile5177Met) c.15453T>G (p.Ile5151Met) c.12837T>G (p.Ile4279Met) c.15555T>G (p.Ile5185Met) c.15552T>G (p.Ile5184Met) c.15474T>G (p.Ile5158Met) c.15459T>G (p.Ile5153Met) c.15375T>G (p.Ile5125Met) c.*488T>G (n.*488T>G) c.8673T>G (p.Ile2891Met) c.8652T>G (p.Ile2884Met) n.15550T>G | |
5 | g.90810795G>A | CA360409939 | ADGRV1 | c.15535G>A (p.Val5179Ile) c.4489G>A (p.Val1497Ile) n.2802G>A c.265+134586G>A (n.265+134586G>A) c.1945G>A (p.Val649Ile) c.2518G>A (p.Val840Ile) n.15548G>A c.15532G>A (p.Val5178Ile) c.15454G>A (p.Val5152Ile) c.12838G>A (p.Val4280Ile) c.15556G>A (p.Val5186Ile) c.15553G>A (p.Val5185Ile) c.15475G>A (p.Val5159Ile) c.15460G>A (p.Val5154Ile) c.15376G>A (p.Val5126Ile) c.*489G>A (n.*489G>A) c.8674G>A (p.Val2892Ile) c.8653G>A (p.Val2885Ile) n.15551G>A | |
5 | g.90810795G>C | CA360409941 | ADGRV1 | c.15535G>C (p.Val5179Leu) c.4489G>C (p.Val1497Leu) n.2802G>C c.265+134586G>C (n.265+134586G>C) c.1945G>C (p.Val649Leu) c.2518G>C (p.Val840Leu) n.15548G>C c.15532G>C (p.Val5178Leu) c.15454G>C (p.Val5152Leu) c.12838G>C (p.Val4280Leu) c.15556G>C (p.Val5186Leu) c.15553G>C (p.Val5185Leu) c.15475G>C (p.Val5159Leu) c.15460G>C (p.Val5154Leu) c.15376G>C (p.Val5126Leu) c.*489G>C (n.*489G>C) c.8674G>C (p.Val2892Leu) c.8653G>C (p.Val2885Leu) n.15551G>C | |
5 | g.90810795G>T | CA360409942 | ADGRV1 | c.15535G>T (p.Val5179Phe) c.4489G>T (p.Val1497Phe) n.2802G>T c.265+134586G>T (n.265+134586G>T) c.1945G>T (p.Val649Phe) c.2518G>T (p.Val840Phe) n.15548G>T c.15532G>T (p.Val5178Phe) c.15454G>T (p.Val5152Phe) c.12838G>T (p.Val4280Phe) c.15556G>T (p.Val5186Phe) c.15553G>T (p.Val5185Phe) c.15475G>T (p.Val5159Phe) c.15460G>T (p.Val5154Phe) c.15376G>T (p.Val5126Phe) c.*489G>T (n.*489G>T) c.8674G>T (p.Val2892Phe) c.8653G>T (p.Val2885Phe) n.15551G>T | |
5 | g.90810795_90810796insCAG | CA2674577087 | ADGRV1 | c.15535_15536insCAG (p.Ile5178_Val5179insAla) c.4489_4490insCAG (p.Ile1496_Val1497insAla) n.2802_2803insCAG c.265+134586_265+134587insCAG (n.265+134586_265+134587insCAG) c.1945_1946insCAG (p.Ile648_Val649insAla) c.2518_2519insCAG (p.Ile839_Val840insAla) n.15548_15549insCAG c.15532_15533insCAG (p.Ile5177_Val5178insAla) c.15454_15455insCAG (p.Ile5151_Val5152insAla) c.12838_12839insCAG (p.Ile4279_Val4280insAla) c.15556_15557insCAG (p.Ile5185_Val5186insAla) c.15553_15554insCAG (p.Ile5184_Val5185insAla) c.15475_15476insCAG (p.Ile5158_Val5159insAla) c.15460_15461insCAG (p.Ile5153_Val5154insAla) c.15376_15377insCAG (p.Ile5125_Val5126insAla) c.*489_*490insCAG (n.*489_*490insCAG) c.8674_8675insCAG (p.Ile2891_Val2892insAla) c.8653_8654insCAG (p.Ile2884_Val2885insAla) n.15551_15552insCAG | gnomAD v4 |
5 | g.90810796T>A | CA360409947 | ADGRV1 | c.15536T>A (p.Val5179Asp) c.4490T>A (p.Val1497Asp) n.2803T>A c.265+134587T>A (n.265+134587T>A) c.1946T>A (p.Val649Asp) c.2519T>A (p.Val840Asp) n.15549T>A c.15533T>A (p.Val5178Asp) c.15455T>A (p.Val5152Asp) c.12839T>A (p.Val4280Asp) c.15557T>A (p.Val5186Asp) c.15554T>A (p.Val5185Asp) c.15476T>A (p.Val5159Asp) c.15461T>A (p.Val5154Asp) c.15377T>A (p.Val5126Asp) c.*490T>A (n.*490T>A) c.8675T>A (p.Val2892Asp) c.8654T>A (p.Val2885Asp) n.15552T>A | gnomAD v4 |
5 | g.90810796T>C | CA360409945 | ADGRV1 | c.15536T>C (p.Val5179Ala) c.4490T>C (p.Val1497Ala) n.2803T>C c.265+134587T>C (n.265+134587T>C) c.1946T>C (p.Val649Ala) c.2519T>C (p.Val840Ala) n.15549T>C c.15533T>C (p.Val5178Ala) c.15455T>C (p.Val5152Ala) c.12839T>C (p.Val4280Ala) c.15557T>C (p.Val5186Ala) c.15554T>C (p.Val5185Ala) c.15476T>C (p.Val5159Ala) c.15461T>C (p.Val5154Ala) c.15377T>C (p.Val5126Ala) c.*490T>C (n.*490T>C) c.8675T>C (p.Val2892Ala) c.8654T>C (p.Val2885Ala) n.15552T>C | |
5 | g.90810796T>G | CA360409944 | ADGRV1 | c.15536T>G (p.Val5179Gly) c.4490T>G (p.Val1497Gly) n.2803T>G c.265+134587T>G (n.265+134587T>G) c.1946T>G (p.Val649Gly) c.2519T>G (p.Val840Gly) n.15549T>G c.15533T>G (p.Val5178Gly) c.15455T>G (p.Val5152Gly) c.12839T>G (p.Val4280Gly) c.15557T>G (p.Val5186Gly) c.15554T>G (p.Val5185Gly) c.15476T>G (p.Val5159Gly) c.15461T>G (p.Val5154Gly) c.15377T>G (p.Val5126Gly) c.*490T>G (n.*490T>G) c.8675T>G (p.Val2892Gly) c.8654T>G (p.Val2885Gly) n.15552T>G | |
5 | g.90810797T>A | CA445468605 | ADGRV1 | c.15537T>A (p.Val5179=) c.4491T>A (p.Val1497=) n.2804T>A c.265+134588T>A (n.265+134588T>A) c.1947T>A (p.Val649=) c.2520T>A (p.Val840=) n.15550T>A c.15534T>A (p.Val5178=) c.15456T>A (p.Val5152=) c.12840T>A (p.Val4280=) c.15558T>A (p.Val5186=) c.15555T>A (p.Val5185=) c.15477T>A (p.Val5159=) c.15462T>A (p.Val5154=) c.15378T>A (p.Val5126=) c.*491T>A (n.*491T>A) c.8676T>A (p.Val2892=) c.8655T>A (p.Val2885=) n.15553T>A | |
5 | g.90810797T>C | CA445468607 | ADGRV1 | c.15537T>C (p.Val5179=) c.4491T>C (p.Val1497=) n.2804T>C c.265+134588T>C (n.265+134588T>C) c.1947T>C (p.Val649=) c.2520T>C (p.Val840=) n.15550T>C c.15534T>C (p.Val5178=) c.15456T>C (p.Val5152=) c.12840T>C (p.Val4280=) c.15558T>C (p.Val5186=) c.15555T>C (p.Val5185=) c.15477T>C (p.Val5159=) c.15462T>C (p.Val5154=) c.15378T>C (p.Val5126=) c.*491T>C (n.*491T>C) c.8676T>C (p.Val2892=) c.8655T>C (p.Val2885=) n.15553T>C | |
5 | g.90810797T>G | CA445468604 | ADGRV1 | c.15537T>G (p.Val5179=) c.4491T>G (p.Val1497=) n.2804T>G c.265+134588T>G (n.265+134588T>G) c.1947T>G (p.Val649=) c.2520T>G (p.Val840=) n.15550T>G c.15534T>G (p.Val5178=) c.15456T>G (p.Val5152=) c.12840T>G (p.Val4280=) c.15558T>G (p.Val5186=) c.15555T>G (p.Val5185=) c.15477T>G (p.Val5159=) c.15462T>G (p.Val5154=) c.15378T>G (p.Val5126=) c.*491T>G (n.*491T>G) c.8676T>G (p.Val2892=) c.8655T>G (p.Val2885=) n.15553T>G | |
5 | g.90810798A>C | CA360409949 | ADGRV1 | c.15538A>C (p.Thr5180Pro) c.4492A>C (p.Thr1498Pro) n.2805A>C c.265+134589A>C (n.265+134589A>C) c.1948A>C (p.Thr650Pro) c.2521A>C (p.Thr841Pro) n.15551A>C c.15535A>C (p.Thr5179Pro) c.15457A>C (p.Thr5153Pro) c.12841A>C (p.Thr4281Pro) c.15559A>C (p.Thr5187Pro) c.15556A>C (p.Thr5186Pro) c.15478A>C (p.Thr5160Pro) c.15463A>C (p.Thr5155Pro) c.15379A>C (p.Thr5127Pro) c.*492A>C (n.*492A>C) c.8677A>C (p.Thr2893Pro) c.8656A>C (p.Thr2886Pro) n.15554A>C | |
5 | g.90810798A>G | CA360409951 | ADGRV1 | c.15538A>G (p.Thr5180Ala) c.4492A>G (p.Thr1498Ala) n.2805A>G c.265+134589A>G (n.265+134589A>G) c.1948A>G (p.Thr650Ala) c.2521A>G (p.Thr841Ala) n.15551A>G c.15535A>G (p.Thr5179Ala) c.15457A>G (p.Thr5153Ala) c.12841A>G (p.Thr4281Ala) c.15559A>G (p.Thr5187Ala) c.15556A>G (p.Thr5186Ala) c.15478A>G (p.Thr5160Ala) c.15463A>G (p.Thr5155Ala) c.15379A>G (p.Thr5127Ala) c.*492A>G (n.*492A>G) c.8677A>G (p.Thr2893Ala) c.8656A>G (p.Thr2886Ala) n.15554A>G | |
5 | g.90810798A>T | CA360409953 | ADGRV1 | c.15538A>T (p.Thr5180Ser) c.4492A>T (p.Thr1498Ser) n.2805A>T c.265+134589A>T (n.265+134589A>T) c.1948A>T (p.Thr650Ser) c.2521A>T (p.Thr841Ser) n.15551A>T c.15535A>T (p.Thr5179Ser) c.15457A>T (p.Thr5153Ser) c.12841A>T (p.Thr4281Ser) c.15559A>T (p.Thr5187Ser) c.15556A>T (p.Thr5186Ser) c.15478A>T (p.Thr5160Ser) c.15463A>T (p.Thr5155Ser) c.15379A>T (p.Thr5127Ser) c.*492A>T (n.*492A>T) c.8677A>T (p.Thr2893Ser) c.8656A>T (p.Thr2886Ser) n.15554A>T | |
5 | g.90810799C>A | CA360409956 | ADGRV1 | c.15539C>A (p.Thr5180Asn) c.4493C>A (p.Thr1498Asn) n.2806C>A c.265+134590C>A (n.265+134590C>A) c.1949C>A (p.Thr650Asn) c.2522C>A (p.Thr841Asn) n.15552C>A c.15536C>A (p.Thr5179Asn) c.15458C>A (p.Thr5153Asn) c.12842C>A (p.Thr4281Asn) c.15560C>A (p.Thr5187Asn) c.15557C>A (p.Thr5186Asn) c.15479C>A (p.Thr5160Asn) c.15464C>A (p.Thr5155Asn) c.15380C>A (p.Thr5127Asn) c.*493C>A (n.*493C>A) c.8678C>A (p.Thr2893Asn) c.8657C>A (p.Thr2886Asn) n.15555C>A | |
5 | g.90810799C= | CA1562911536 | ADGRV1 | c.15539C= (p.Thr5180=) c.4493C= (p.Thr1498=) n.2806C= c.265+134590C= (n.265+134590C=) c.1949C= (p.Thr650=) c.2522C= (p.Thr841=) n.15552C= c.15536C= (p.Thr5179=) c.15458C= (p.Thr5153=) c.12842C= (p.Thr4281=) c.15560C= (p.Thr5187=) c.15557C= (p.Thr5186=) c.15479C= (p.Thr5160=) c.15464C= (p.Thr5155=) c.15380C= (p.Thr5127=) c.*493C= (n.*493C=) c.8678C= (p.Thr2893=) c.8657C= (p.Thr2886=) n.15555C= | |
5 | g.90810799C>G | CA360409958 | ADGRV1 | c.15539C>G (p.Thr5180Ser) c.4493C>G (p.Thr1498Ser) n.2806C>G c.265+134590C>G (n.265+134590C>G) c.1949C>G (p.Thr650Ser) c.2522C>G (p.Thr841Ser) n.15552C>G c.15536C>G (p.Thr5179Ser) c.15458C>G (p.Thr5153Ser) c.12842C>G (p.Thr4281Ser) c.15560C>G (p.Thr5187Ser) c.15557C>G (p.Thr5186Ser) c.15479C>G (p.Thr5160Ser) c.15464C>G (p.Thr5155Ser) c.15380C>G (p.Thr5127Ser) c.*493C>G (n.*493C>G) c.8678C>G (p.Thr2893Ser) c.8657C>G (p.Thr2886Ser) n.15555C>G | |
5 | g.90810799C>T | CA360409960 | ADGRV1 | c.15539C>T (p.Thr5180Ile) c.4493C>T (p.Thr1498Ile) n.2806C>T c.265+134590C>T (n.265+134590C>T) c.1949C>T (p.Thr650Ile) c.2522C>T (p.Thr841Ile) n.15552C>T c.15536C>T (p.Thr5179Ile) c.15458C>T (p.Thr5153Ile) c.12842C>T (p.Thr4281Ile) c.15560C>T (p.Thr5187Ile) c.15557C>T (p.Thr5186Ile) c.15479C>T (p.Thr5160Ile) c.15464C>T (p.Thr5155Ile) c.15380C>T (p.Thr5127Ile) c.*493C>T (n.*493C>T) c.8678C>T (p.Thr2893Ile) c.8657C>T (p.Thr2886Ile) n.15555C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90810800T>A | CA445467717 | ADGRV1 | c.15540T>A (p.Thr5180=) c.4494T>A (p.Thr1498=) n.2807T>A c.265+134591T>A (n.265+134591T>A) c.1950T>A (p.Thr650=) c.2523T>A (p.Thr841=) n.15553T>A c.15537T>A (p.Thr5179=) c.15459T>A (p.Thr5153=) c.12843T>A (p.Thr4281=) c.15561T>A (p.Thr5187=) c.15558T>A (p.Thr5186=) c.15480T>A (p.Thr5160=) c.15465T>A (p.Thr5155=) c.15381T>A (p.Thr5127=) c.*494T>A (n.*494T>A) c.8679T>A (p.Thr2893=) c.8658T>A (p.Thr2886=) n.15556T>A | |
5 | g.90810800T>C | CA445467718 | ADGRV1 | c.15540T>C (p.Thr5180=) c.4494T>C (p.Thr1498=) n.2807T>C c.265+134591T>C (n.265+134591T>C) c.1950T>C (p.Thr650=) c.2523T>C (p.Thr841=) n.15553T>C c.15537T>C (p.Thr5179=) c.15459T>C (p.Thr5153=) c.12843T>C (p.Thr4281=) c.15561T>C (p.Thr5187=) c.15558T>C (p.Thr5186=) c.15480T>C (p.Thr5160=) c.15465T>C (p.Thr5155=) c.15381T>C (p.Thr5127=) c.*494T>C (n.*494T>C) c.8679T>C (p.Thr2893=) c.8658T>C (p.Thr2886=) n.15556T>C | |
5 | g.90810800T>G | CA445467719 | ADGRV1 | c.15540T>G (p.Thr5180=) c.4494T>G (p.Thr1498=) n.2807T>G c.265+134591T>G (n.265+134591T>G) c.1950T>G (p.Thr650=) c.2523T>G (p.Thr841=) n.15553T>G c.15537T>G (p.Thr5179=) c.15459T>G (p.Thr5153=) c.12843T>G (p.Thr4281=) c.15561T>G (p.Thr5187=) c.15558T>G (p.Thr5186=) c.15480T>G (p.Thr5160=) c.15465T>G (p.Thr5155=) c.15381T>G (p.Thr5127=) c.*494T>G (n.*494T>G) c.8679T>G (p.Thr2893=) c.8658T>G (p.Thr2886=) n.15556T>G | |
5 | g.90810801G>A | CA360409961 | ADGRV1 | c.15541G>A (p.Glu5181Lys) c.4495G>A (p.Glu1499Lys) n.2808G>A c.265+134592G>A (n.265+134592G>A) c.1951G>A (p.Glu651Lys) c.2524G>A (p.Glu842Lys) n.15554G>A c.15538G>A (p.Glu5180Lys) c.15460G>A (p.Glu5154Lys) c.12844G>A (p.Glu4282Lys) c.15562G>A (p.Glu5188Lys) c.15559G>A (p.Glu5187Lys) c.15481G>A (p.Glu5161Lys) c.15466G>A (p.Glu5156Lys) c.15382G>A (p.Glu5128Lys) c.*495G>A (n.*495G>A) c.8680G>A (p.Glu2894Lys) c.8659G>A (p.Glu2887Lys) n.15557G>A | |
5 | g.90810801G>C | CA360409962 | ADGRV1 | c.15541G>C (p.Glu5181Gln) c.4495G>C (p.Glu1499Gln) n.2808G>C c.265+134592G>C (n.265+134592G>C) c.1951G>C (p.Glu651Gln) c.2524G>C (p.Glu842Gln) n.15554G>C c.15538G>C (p.Glu5180Gln) c.15460G>C (p.Glu5154Gln) c.12844G>C (p.Glu4282Gln) c.15562G>C (p.Glu5188Gln) c.15559G>C (p.Glu5187Gln) c.15481G>C (p.Glu5161Gln) c.15466G>C (p.Glu5156Gln) c.15382G>C (p.Glu5128Gln) c.*495G>C (n.*495G>C) c.8680G>C (p.Glu2894Gln) c.8659G>C (p.Glu2887Gln) n.15557G>C | |
5 | g.90810801G>T | CA360409963 | ADGRV1 | c.15541G>T (p.Glu5181Ter) c.4495G>T (p.Glu1499Ter) n.2808G>T c.265+134592G>T (n.265+134592G>T) c.1951G>T (p.Glu651Ter) c.2524G>T (p.Glu842Ter) n.15554G>T c.15538G>T (p.Glu5180Ter) c.15460G>T (p.Glu5154Ter) c.12844G>T (p.Glu4282Ter) c.15562G>T (p.Glu5188Ter) c.15559G>T (p.Glu5187Ter) c.15481G>T (p.Glu5161Ter) c.15466G>T (p.Glu5156Ter) c.15382G>T (p.Glu5128Ter) c.*495G>T (n.*495G>T) c.8680G>T (p.Glu2894Ter) c.8659G>T (p.Glu2887Ter) n.15557G>T | |
5 | g.90810802A>C | CA360409965 | ADGRV1 | c.15542A>C (p.Glu5181Ala) c.4496A>C (p.Glu1499Ala) n.2809A>C c.265+134593A>C (n.265+134593A>C) c.1952A>C (p.Glu651Ala) c.2525A>C (p.Glu842Ala) n.15555A>C c.15539A>C (p.Glu5180Ala) c.15461A>C (p.Glu5154Ala) c.12845A>C (p.Glu4282Ala) c.15563A>C (p.Glu5188Ala) c.15560A>C (p.Glu5187Ala) c.15482A>C (p.Glu5161Ala) c.15467A>C (p.Glu5156Ala) c.15383A>C (p.Glu5128Ala) c.*496A>C (n.*496A>C) c.8681A>C (p.Glu2894Ala) c.8660A>C (p.Glu2887Ala) n.15558A>C | |
5 | g.90810802A>G | CA360409967 | ADGRV1 | c.15542A>G (p.Glu5181Gly) c.4496A>G (p.Glu1499Gly) n.2809A>G c.265+134593A>G (n.265+134593A>G) c.1952A>G (p.Glu651Gly) c.2525A>G (p.Glu842Gly) n.15555A>G c.15539A>G (p.Glu5180Gly) c.15461A>G (p.Glu5154Gly) c.12845A>G (p.Glu4282Gly) c.15563A>G (p.Glu5188Gly) c.15560A>G (p.Glu5187Gly) c.15482A>G (p.Glu5161Gly) c.15467A>G (p.Glu5156Gly) c.15383A>G (p.Glu5128Gly) c.*496A>G (n.*496A>G) c.8681A>G (p.Glu2894Gly) c.8660A>G (p.Glu2887Gly) n.15558A>G | |
5 | g.90810802A>T | CA360409968 | ADGRV1 | c.15542A>T (p.Glu5181Val) c.4496A>T (p.Glu1499Val) n.2809A>T c.265+134593A>T (n.265+134593A>T) c.1952A>T (p.Glu651Val) c.2525A>T (p.Glu842Val) n.15555A>T c.15539A>T (p.Glu5180Val) c.15461A>T (p.Glu5154Val) c.12845A>T (p.Glu4282Val) c.15563A>T (p.Glu5188Val) c.15560A>T (p.Glu5187Val) c.15482A>T (p.Glu5161Val) c.15467A>T (p.Glu5156Val) c.15383A>T (p.Glu5128Val) c.*496A>T (n.*496A>T) c.8681A>T (p.Glu2894Val) c.8660A>T (p.Glu2887Val) n.15558A>T | |
5 | g.90810803G>A | CA445467724 | ADGRV1 | c.15543G>A (p.Glu5181=) c.4497G>A (p.Glu1499=) n.2810G>A c.265+134594G>A (n.265+134594G>A) c.1953G>A (p.Glu651=) c.2526G>A (p.Glu842=) n.15556G>A c.15540G>A (p.Glu5180=) c.15462G>A (p.Glu5154=) c.12846G>A (p.Glu4282=) c.15564G>A (p.Glu5188=) c.15561G>A (p.Glu5187=) c.15483G>A (p.Glu5161=) c.15468G>A (p.Glu5156=) c.15384G>A (p.Glu5128=) c.*497G>A (n.*497G>A) c.8682G>A (p.Glu2894=) c.8661G>A (p.Glu2887=) n.15559G>A | |
5 | g.90810803G>C | CA360409969 | ADGRV1 | c.15543G>C (p.Glu5181Asp) c.4497G>C (p.Glu1499Asp) n.2810G>C c.265+134594G>C (n.265+134594G>C) c.1953G>C (p.Glu651Asp) c.2526G>C (p.Glu842Asp) n.15556G>C c.15540G>C (p.Glu5180Asp) c.15462G>C (p.Glu5154Asp) c.12846G>C (p.Glu4282Asp) c.15564G>C (p.Glu5188Asp) c.15561G>C (p.Glu5187Asp) c.15483G>C (p.Glu5161Asp) c.15468G>C (p.Glu5156Asp) c.15384G>C (p.Glu5128Asp) c.*497G>C (n.*497G>C) c.8682G>C (p.Glu2894Asp) c.8661G>C (p.Glu2887Asp) n.15559G>C | |
5 | g.90810803G>T | CA360409971 | ADGRV1 | c.15543G>T (p.Glu5181Asp) c.4497G>T (p.Glu1499Asp) n.2810G>T c.265+134594G>T (n.265+134594G>T) c.1953G>T (p.Glu651Asp) c.2526G>T (p.Glu842Asp) n.15556G>T c.15540G>T (p.Glu5180Asp) c.15462G>T (p.Glu5154Asp) c.12846G>T (p.Glu4282Asp) c.15564G>T (p.Glu5188Asp) c.15561G>T (p.Glu5187Asp) c.15483G>T (p.Glu5161Asp) c.15468G>T (p.Glu5156Asp) c.15384G>T (p.Glu5128Asp) c.*497G>T (n.*497G>T) c.8682G>T (p.Glu2894Asp) c.8661G>T (p.Glu2887Asp) n.15559G>T | |
5 | g.90810804G>A | CA360409974 | ADGRV1 | c.15544G>A (p.Ala5182Thr) c.4498G>A (p.Ala1500Thr) n.2811G>A c.265+134595G>A (n.265+134595G>A) c.1954G>A (p.Ala652Thr) c.2527G>A (p.Ala843Thr) n.15557G>A c.15541G>A (p.Ala5181Thr) c.15463G>A (p.Ala5155Thr) c.12847G>A (p.Ala4283Thr) c.15565G>A (p.Ala5189Thr) c.15562G>A (p.Ala5188Thr) c.15484G>A (p.Ala5162Thr) c.15469G>A (p.Ala5157Thr) c.15385G>A (p.Ala5129Thr) c.*498G>A (n.*498G>A) c.8683G>A (p.Ala2895Thr) c.8662G>A (p.Ala2888Thr) n.15560G>A | |
5 | g.90810804G>C | CA360409976 | ADGRV1 | c.15544G>C (p.Ala5182Pro) c.4498G>C (p.Ala1500Pro) n.2811G>C c.265+134595G>C (n.265+134595G>C) c.1954G>C (p.Ala652Pro) c.2527G>C (p.Ala843Pro) n.15557G>C c.15541G>C (p.Ala5181Pro) c.15463G>C (p.Ala5155Pro) c.12847G>C (p.Ala4283Pro) c.15565G>C (p.Ala5189Pro) c.15562G>C (p.Ala5188Pro) c.15484G>C (p.Ala5162Pro) c.15469G>C (p.Ala5157Pro) c.15385G>C (p.Ala5129Pro) c.*498G>C (n.*498G>C) c.8683G>C (p.Ala2895Pro) c.8662G>C (p.Ala2888Pro) n.15560G>C | |
5 | g.90810804G>T | CA360409978 | ADGRV1 | c.15544G>T (p.Ala5182Ser) c.4498G>T (p.Ala1500Ser) n.2811G>T c.265+134595G>T (n.265+134595G>T) c.1954G>T (p.Ala652Ser) c.2527G>T (p.Ala843Ser) n.15557G>T c.15541G>T (p.Ala5181Ser) c.15463G>T (p.Ala5155Ser) c.12847G>T (p.Ala4283Ser) c.15565G>T (p.Ala5189Ser) c.15562G>T (p.Ala5188Ser) c.15484G>T (p.Ala5162Ser) c.15469G>T (p.Ala5157Ser) c.15385G>T (p.Ala5129Ser) c.*498G>T (n.*498G>T) c.8683G>T (p.Ala2895Ser) c.8662G>T (p.Ala2888Ser) n.15560G>T | |
5 | g.90810805C>A | CA360409979 | ADGRV1 | c.15545C>A (p.Ala5182Glu) c.4499C>A (p.Ala1500Glu) n.2812C>A c.265+134596C>A (n.265+134596C>A) c.1955C>A (p.Ala652Glu) c.2528C>A (p.Ala843Glu) n.15558C>A c.15542C>A (p.Ala5181Glu) c.15464C>A (p.Ala5155Glu) c.12848C>A (p.Ala4283Glu) c.15566C>A (p.Ala5189Glu) c.15563C>A (p.Ala5188Glu) c.15485C>A (p.Ala5162Glu) c.15470C>A (p.Ala5157Glu) c.15386C>A (p.Ala5129Glu) c.*499C>A (n.*499C>A) c.8684C>A (p.Ala2895Glu) c.8663C>A (p.Ala2888Glu) n.15561C>A | |
5 | g.90810805C>G | CA360409981 | ADGRV1 | c.15545C>G (p.Ala5182Gly) c.4499C>G (p.Ala1500Gly) n.2812C>G c.265+134596C>G (n.265+134596C>G) c.1955C>G (p.Ala652Gly) c.2528C>G (p.Ala843Gly) n.15558C>G c.15542C>G (p.Ala5181Gly) c.15464C>G (p.Ala5155Gly) c.12848C>G (p.Ala4283Gly) c.15566C>G (p.Ala5189Gly) c.15563C>G (p.Ala5188Gly) c.15485C>G (p.Ala5162Gly) c.15470C>G (p.Ala5157Gly) c.15386C>G (p.Ala5129Gly) c.*499C>G (n.*499C>G) c.8684C>G (p.Ala2895Gly) c.8663C>G (p.Ala2888Gly) n.15561C>G | |
5 | g.90810805C>T | CA360409983 | ADGRV1 | c.15545C>T (p.Ala5182Val) c.4499C>T (p.Ala1500Val) n.2812C>T c.265+134596C>T (n.265+134596C>T) c.1955C>T (p.Ala652Val) c.2528C>T (p.Ala843Val) n.15558C>T c.15542C>T (p.Ala5181Val) c.15464C>T (p.Ala5155Val) c.12848C>T (p.Ala4283Val) c.15566C>T (p.Ala5189Val) c.15563C>T (p.Ala5188Val) c.15485C>T (p.Ala5162Val) c.15470C>T (p.Ala5157Val) c.15386C>T (p.Ala5129Val) c.*499C>T (n.*499C>T) c.8684C>T (p.Ala2895Val) c.8663C>T (p.Ala2888Val) n.15561C>T | |
5 | g.90810806A>C | CA445467725 | ADGRV1 | c.15546A>C (p.Ala5182=) c.4500A>C (p.Ala1500=) n.2813A>C c.265+134597A>C (n.265+134597A>C) c.1956A>C (p.Ala652=) c.2529A>C (p.Ala843=) n.15559A>C c.15543A>C (p.Ala5181=) c.15465A>C (p.Ala5155=) c.12849A>C (p.Ala4283=) c.15567A>C (p.Ala5189=) c.15564A>C (p.Ala5188=) c.15486A>C (p.Ala5162=) c.15471A>C (p.Ala5157=) c.15387A>C (p.Ala5129=) c.*500A>C (n.*500A>C) c.8685A>C (p.Ala2895=) c.8664A>C (p.Ala2888=) n.15562A>C | |
5 | g.90810806A>G | CA445467726 | ADGRV1 | c.15546A>G (p.Ala5182=) c.4500A>G (p.Ala1500=) n.2813A>G c.265+134597A>G (n.265+134597A>G) c.1956A>G (p.Ala652=) c.2529A>G (p.Ala843=) n.15559A>G c.15543A>G (p.Ala5181=) c.15465A>G (p.Ala5155=) c.12849A>G (p.Ala4283=) c.15567A>G (p.Ala5189=) c.15564A>G (p.Ala5188=) c.15486A>G (p.Ala5162=) c.15471A>G (p.Ala5157=) c.15387A>G (p.Ala5129=) c.*500A>G (n.*500A>G) c.8685A>G (p.Ala2895=) c.8664A>G (p.Ala2888=) n.15562A>G | |
5 | g.90810806A>T | CA445467727 | ADGRV1 | c.15546A>T (p.Ala5182=) c.4500A>T (p.Ala1500=) n.2813A>T c.265+134597A>T (n.265+134597A>T) c.1956A>T (p.Ala652=) c.2529A>T (p.Ala843=) n.15559A>T c.15543A>T (p.Ala5181=) c.15465A>T (p.Ala5155=) c.12849A>T (p.Ala4283=) c.15567A>T (p.Ala5189=) c.15564A>T (p.Ala5188=) c.15486A>T (p.Ala5162=) c.15471A>T (p.Ala5157=) c.15387A>T (p.Ala5129=) c.*500A>T (n.*500A>T) c.8685A>T (p.Ala2895=) c.8664A>T (p.Ala2888=) n.15562A>T | |
5 | g.90810807A>C | CA360409985 | ADGRV1 | c.15547A>C (p.Thr5183Pro) c.4501A>C (p.Thr1501Pro) n.2814A>C c.265+134598A>C (n.265+134598A>C) c.1957A>C (p.Thr653Pro) c.2530A>C (p.Thr844Pro) n.15560A>C c.15544A>C (p.Thr5182Pro) c.15466A>C (p.Thr5156Pro) c.12850A>C (p.Thr4284Pro) c.15568A>C (p.Thr5190Pro) c.15565A>C (p.Thr5189Pro) c.15487A>C (p.Thr5163Pro) c.15472A>C (p.Thr5158Pro) c.15388A>C (p.Thr5130Pro) c.*501A>C (n.*501A>C) c.8686A>C (p.Thr2896Pro) c.8665A>C (p.Thr2889Pro) n.15563A>C | |
5 | g.90810807A>G | CA360409986 | ADGRV1 | c.15547A>G (p.Thr5183Ala) c.4501A>G (p.Thr1501Ala) n.2814A>G c.265+134598A>G (n.265+134598A>G) c.1957A>G (p.Thr653Ala) c.2530A>G (p.Thr844Ala) n.15560A>G c.15544A>G (p.Thr5182Ala) c.15466A>G (p.Thr5156Ala) c.12850A>G (p.Thr4284Ala) c.15568A>G (p.Thr5190Ala) c.15565A>G (p.Thr5189Ala) c.15487A>G (p.Thr5163Ala) c.15472A>G (p.Thr5158Ala) c.15388A>G (p.Thr5130Ala) c.*501A>G (n.*501A>G) c.8686A>G (p.Thr2896Ala) c.8665A>G (p.Thr2889Ala) n.15563A>G | gnomAD v4 |
5 | g.90810807A>T | CA360409989 | ADGRV1 | c.15547A>T (p.Thr5183Ser) c.4501A>T (p.Thr1501Ser) n.2814A>T c.265+134598A>T (n.265+134598A>T) c.1957A>T (p.Thr653Ser) c.2530A>T (p.Thr844Ser) n.15560A>T c.15544A>T (p.Thr5182Ser) c.15466A>T (p.Thr5156Ser) c.12850A>T (p.Thr4284Ser) c.15568A>T (p.Thr5190Ser) c.15565A>T (p.Thr5189Ser) c.15487A>T (p.Thr5163Ser) c.15472A>T (p.Thr5158Ser) c.15388A>T (p.Thr5130Ser) c.*501A>T (n.*501A>T) c.8686A>T (p.Thr2896Ser) c.8665A>T (p.Thr2889Ser) n.15563A>T | |
5 | g.90810808C>A | CA360409991 | ADGRV1 | c.15548C>A (p.Thr5183Asn) c.4502C>A (p.Thr1501Asn) n.2815C>A c.265+134599C>A (n.265+134599C>A) c.1958C>A (p.Thr653Asn) c.2531C>A (p.Thr844Asn) n.15561C>A c.15545C>A (p.Thr5182Asn) c.15467C>A (p.Thr5156Asn) c.12851C>A (p.Thr4284Asn) c.15569C>A (p.Thr5190Asn) c.15566C>A (p.Thr5189Asn) c.15488C>A (p.Thr5163Asn) c.15473C>A (p.Thr5158Asn) c.15389C>A (p.Thr5130Asn) c.*502C>A (n.*502C>A) c.8687C>A (p.Thr2896Asn) c.8666C>A (p.Thr2889Asn) n.15564C>A | gnomAD v4 |
5 | g.90810808C>G | CA360409993 | ADGRV1 | c.15548C>G (p.Thr5183Ser) c.4502C>G (p.Thr1501Ser) n.2815C>G c.265+134599C>G (n.265+134599C>G) c.1958C>G (p.Thr653Ser) c.2531C>G (p.Thr844Ser) n.15561C>G c.15545C>G (p.Thr5182Ser) c.15467C>G (p.Thr5156Ser) c.12851C>G (p.Thr4284Ser) c.15569C>G (p.Thr5190Ser) c.15566C>G (p.Thr5189Ser) c.15488C>G (p.Thr5163Ser) c.15473C>G (p.Thr5158Ser) c.15389C>G (p.Thr5130Ser) c.*502C>G (n.*502C>G) c.8687C>G (p.Thr2896Ser) c.8666C>G (p.Thr2889Ser) n.15564C>G | |
5 | g.90810808C>T | CA360409995 | ADGRV1 | c.15548C>T (p.Thr5183Ile) c.4502C>T (p.Thr1501Ile) n.2815C>T c.265+134599C>T (n.265+134599C>T) c.1958C>T (p.Thr653Ile) c.2531C>T (p.Thr844Ile) n.15561C>T c.15545C>T (p.Thr5182Ile) c.15467C>T (p.Thr5156Ile) c.12851C>T (p.Thr4284Ile) c.15569C>T (p.Thr5190Ile) c.15566C>T (p.Thr5189Ile) c.15488C>T (p.Thr5163Ile) c.15473C>T (p.Thr5158Ile) c.15389C>T (p.Thr5130Ile) c.*502C>T (n.*502C>T) c.8687C>T (p.Thr2896Ile) c.8666C>T (p.Thr2889Ile) n.15564C>T | gnomAD v4 |
5 | g.90810809T>A | CA445467729 | ADGRV1 | c.15549T>A (p.Thr5183=) c.4503T>A (p.Thr1501=) n.2816T>A c.265+134600T>A (n.265+134600T>A) c.1959T>A (p.Thr653=) c.2532T>A (p.Thr844=) n.15562T>A c.15546T>A (p.Thr5182=) c.15468T>A (p.Thr5156=) c.12852T>A (p.Thr4284=) c.15570T>A (p.Thr5190=) c.15567T>A (p.Thr5189=) c.15489T>A (p.Thr5163=) c.15474T>A (p.Thr5158=) c.15390T>A (p.Thr5130=) c.*503T>A (n.*503T>A) c.8688T>A (p.Thr2896=) c.8667T>A (p.Thr2889=) n.15565T>A | |
5 | g.90810809T>C | CA445467730 | ADGRV1 | c.15549T>C (p.Thr5183=) c.4503T>C (p.Thr1501=) n.2816T>C c.265+134600T>C (n.265+134600T>C) c.1959T>C (p.Thr653=) c.2532T>C (p.Thr844=) n.15562T>C c.15546T>C (p.Thr5182=) c.15468T>C (p.Thr5156=) c.12852T>C (p.Thr4284=) c.15570T>C (p.Thr5190=) c.15567T>C (p.Thr5189=) c.15489T>C (p.Thr5163=) c.15474T>C (p.Thr5158=) c.15390T>C (p.Thr5130=) c.*503T>C (n.*503T>C) c.8688T>C (p.Thr2896=) c.8667T>C (p.Thr2889=) n.15565T>C | gnomAD v4 |
5 | g.90810809T>G | CA445467731 | ADGRV1 | c.15549T>G (p.Thr5183=) c.4503T>G (p.Thr1501=) n.2816T>G c.265+134600T>G (n.265+134600T>G) c.1959T>G (p.Thr653=) c.2532T>G (p.Thr844=) n.15562T>G c.15546T>G (p.Thr5182=) c.15468T>G (p.Thr5156=) c.12852T>G (p.Thr4284=) c.15570T>G (p.Thr5190=) c.15567T>G (p.Thr5189=) c.15489T>G (p.Thr5163=) c.15474T>G (p.Thr5158=) c.15390T>G (p.Thr5130=) c.*503T>G (n.*503T>G) c.8688T>G (p.Thr2896=) c.8667T>G (p.Thr2889=) n.15565T>G | |
5 | g.90810810G>A | CA360410002 | ADGRV1 | c.15550G>A (p.Gly5184Ser) c.4504G>A (p.Gly1502Ser) n.2817G>A c.265+134601G>A (n.265+134601G>A) c.1960G>A (p.Gly654Ser) c.2533G>A (p.Gly845Ser) n.15563G>A c.15547G>A (p.Gly5183Ser) c.15469G>A (p.Gly5157Ser) c.12853G>A (p.Gly4285Ser) c.15571G>A (p.Gly5191Ser) c.15568G>A (p.Gly5190Ser) c.15490G>A (p.Gly5164Ser) c.15475G>A (p.Gly5159Ser) c.15391G>A (p.Gly5131Ser) c.*504G>A (n.*504G>A) c.8689G>A (p.Gly2897Ser) c.8668G>A (p.Gly2890Ser) n.15566G>A | gnomAD v4 |
5 | g.90810810G>C | CA360409998 | ADGRV1 | c.15550G>C (p.Gly5184Arg) c.4504G>C (p.Gly1502Arg) n.2817G>C c.265+134601G>C (n.265+134601G>C) c.1960G>C (p.Gly654Arg) c.2533G>C (p.Gly845Arg) n.15563G>C c.15547G>C (p.Gly5183Arg) c.15469G>C (p.Gly5157Arg) c.12853G>C (p.Gly4285Arg) c.15571G>C (p.Gly5191Arg) c.15568G>C (p.Gly5190Arg) c.15490G>C (p.Gly5164Arg) c.15475G>C (p.Gly5159Arg) c.15391G>C (p.Gly5131Arg) c.*504G>C (n.*504G>C) c.8689G>C (p.Gly2897Arg) c.8668G>C (p.Gly2890Arg) n.15566G>C | |
5 | g.90810810G>T | CA360410000 | ADGRV1 | c.15550G>T (p.Gly5184Cys) c.4504G>T (p.Gly1502Cys) n.2817G>T c.265+134601G>T (n.265+134601G>T) c.1960G>T (p.Gly654Cys) c.2533G>T (p.Gly845Cys) n.15563G>T c.15547G>T (p.Gly5183Cys) c.15469G>T (p.Gly5157Cys) c.12853G>T (p.Gly4285Cys) c.15571G>T (p.Gly5191Cys) c.15568G>T (p.Gly5190Cys) c.15490G>T (p.Gly5164Cys) c.15475G>T (p.Gly5159Cys) c.15391G>T (p.Gly5131Cys) c.*504G>T (n.*504G>T) c.8689G>T (p.Gly2897Cys) c.8668G>T (p.Gly2890Cys) n.15566G>T | |
5 | g.90810811G>A | CA360410003 | ADGRV1 | c.15551G>A (p.Gly5184Asp) c.4505G>A (p.Gly1502Asp) n.2818G>A c.265+134602G>A (n.265+134602G>A) c.1961G>A (p.Gly654Asp) c.2534G>A (p.Gly845Asp) n.15564G>A c.15548G>A (p.Gly5183Asp) c.15470G>A (p.Gly5157Asp) c.12854G>A (p.Gly4285Asp) c.15572G>A (p.Gly5191Asp) c.15569G>A (p.Gly5190Asp) c.15491G>A (p.Gly5164Asp) c.15476G>A (p.Gly5159Asp) c.15392G>A (p.Gly5131Asp) c.*505G>A (n.*505G>A) c.8690G>A (p.Gly2897Asp) c.8669G>A (p.Gly2890Asp) n.15567G>A | |
5 | g.90810811G>C | CA360410004 | ADGRV1 | c.15551G>C (p.Gly5184Ala) c.4505G>C (p.Gly1502Ala) n.2818G>C c.265+134602G>C (n.265+134602G>C) c.1961G>C (p.Gly654Ala) c.2534G>C (p.Gly845Ala) n.15564G>C c.15548G>C (p.Gly5183Ala) c.15470G>C (p.Gly5157Ala) c.12854G>C (p.Gly4285Ala) c.15572G>C (p.Gly5191Ala) c.15569G>C (p.Gly5190Ala) c.15491G>C (p.Gly5164Ala) c.15476G>C (p.Gly5159Ala) c.15392G>C (p.Gly5131Ala) c.*505G>C (n.*505G>C) c.8690G>C (p.Gly2897Ala) c.8669G>C (p.Gly2890Ala) n.15567G>C | |
5 | g.90810811G>T | CA360410006 | ADGRV1 | c.15551G>T (p.Gly5184Val) c.4505G>T (p.Gly1502Val) n.2818G>T c.265+134602G>T (n.265+134602G>T) c.1961G>T (p.Gly654Val) c.2534G>T (p.Gly845Val) n.15564G>T c.15548G>T (p.Gly5183Val) c.15470G>T (p.Gly5157Val) c.12854G>T (p.Gly4285Val) c.15572G>T (p.Gly5191Val) c.15569G>T (p.Gly5190Val) c.15491G>T (p.Gly5164Val) c.15476G>T (p.Gly5159Val) c.15392G>T (p.Gly5131Val) c.*505G>T (n.*505G>T) c.8690G>T (p.Gly2897Val) c.8669G>T (p.Gly2890Val) n.15567G>T | gnomAD v4 |
5 | g.90810812T>A | CA445467734 | ADGRV1 | c.15552T>A (p.Gly5184=) c.4506T>A (p.Gly1502=) n.2819T>A c.265+134603T>A (n.265+134603T>A) c.1962T>A (p.Gly654=) c.2535T>A (p.Gly845=) n.15565T>A c.15549T>A (p.Gly5183=) c.15471T>A (p.Gly5157=) c.12855T>A (p.Gly4285=) c.15573T>A (p.Gly5191=) c.15570T>A (p.Gly5190=) c.15492T>A (p.Gly5164=) c.15477T>A (p.Gly5159=) c.15393T>A (p.Gly5131=) c.*506T>A (n.*506T>A) c.8691T>A (p.Gly2897=) c.8670T>A (p.Gly2890=) n.15568T>A | |
5 | g.90810812T>C | CA445467736 | ADGRV1 | c.15552T>C (p.Gly5184=) c.4506T>C (p.Gly1502=) n.2819T>C c.265+134603T>C (n.265+134603T>C) c.1962T>C (p.Gly654=) c.2535T>C (p.Gly845=) n.15565T>C c.15549T>C (p.Gly5183=) c.15471T>C (p.Gly5157=) c.12855T>C (p.Gly4285=) c.15573T>C (p.Gly5191=) c.15570T>C (p.Gly5190=) c.15492T>C (p.Gly5164=) c.15477T>C (p.Gly5159=) c.15393T>C (p.Gly5131=) c.*506T>C (n.*506T>C) c.8691T>C (p.Gly2897=) c.8670T>C (p.Gly2890=) n.15568T>C | |
5 | g.90810812T>G | CA445467737 | ADGRV1 | c.15552T>G (p.Gly5184=) c.4506T>G (p.Gly1502=) n.2819T>G c.265+134603T>G (n.265+134603T>G) c.1962T>G (p.Gly654=) c.2535T>G (p.Gly845=) n.15565T>G c.15549T>G (p.Gly5183=) c.15471T>G (p.Gly5157=) c.12855T>G (p.Gly4285=) c.15573T>G (p.Gly5191=) c.15570T>G (p.Gly5190=) c.15492T>G (p.Gly5164=) c.15477T>G (p.Gly5159=) c.15393T>G (p.Gly5131=) c.*506T>G (n.*506T>G) c.8691T>G (p.Gly2897=) c.8670T>G (p.Gly2890=) n.15568T>G | |
5 | g.90810813G>A | CA3341943 | ADGRV1 | c.15553G>A (p.Val5185Ile) c.4507G>A (p.Val1503Ile) n.2820G>A c.265+134604G>A (n.265+134604G>A) c.1963G>A (p.Val655Ile) c.2536G>A (p.Val846Ile) n.15566G>A c.15550G>A (p.Val5184Ile) c.15472G>A (p.Val5158Ile) c.12856G>A (p.Val4286Ile) c.15574G>A (p.Val5192Ile) c.15571G>A (p.Val5191Ile) c.15493G>A (p.Val5165Ile) c.15478G>A (p.Val5160Ile) c.15394G>A (p.Val5132Ile) c.*507G>A (n.*507G>A) c.8692G>A (p.Val2898Ile) c.8671G>A (p.Val2891Ile) n.15569G>A | dbSNP ExAC gnomAD v2 |
5 | g.90810813G>C | CA360410009 | ADGRV1 | c.15553G>C (p.Val5185Leu) c.4507G>C (p.Val1503Leu) n.2820G>C c.265+134604G>C (n.265+134604G>C) c.1963G>C (p.Val655Leu) c.2536G>C (p.Val846Leu) n.15566G>C c.15550G>C (p.Val5184Leu) c.15472G>C (p.Val5158Leu) c.12856G>C (p.Val4286Leu) c.15574G>C (p.Val5192Leu) c.15571G>C (p.Val5191Leu) c.15493G>C (p.Val5165Leu) c.15478G>C (p.Val5160Leu) c.15394G>C (p.Val5132Leu) c.*507G>C (n.*507G>C) c.8692G>C (p.Val2898Leu) c.8671G>C (p.Val2891Leu) n.15569G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90810813G= | CA1562911537 | ADGRV1 | c.15553G= (p.Val5185=) c.4507G= (p.Val1503=) n.2820G= c.265+134604G= (n.265+134604G=) c.1963G= (p.Val655=) c.2536G= (p.Val846=) n.15566G= c.15550G= (p.Val5184=) c.15472G= (p.Val5158=) c.12856G= (p.Val4286=) c.15574G= (p.Val5192=) c.15571G= (p.Val5191=) c.15493G= (p.Val5165=) c.15478G= (p.Val5160=) c.15394G= (p.Val5132=) c.*507G= (n.*507G=) c.8692G= (p.Val2898=) c.8671G= (p.Val2891=) n.15569G= | |
5 | g.90810813G>T | CA360410012 | ADGRV1 | c.15553G>T (p.Val5185Leu) c.4507G>T (p.Val1503Leu) n.2820G>T c.265+134604G>T (n.265+134604G>T) c.1963G>T (p.Val655Leu) c.2536G>T (p.Val846Leu) n.15566G>T c.15550G>T (p.Val5184Leu) c.15472G>T (p.Val5158Leu) c.12856G>T (p.Val4286Leu) c.15574G>T (p.Val5192Leu) c.15571G>T (p.Val5191Leu) c.15493G>T (p.Val5165Leu) c.15478G>T (p.Val5160Leu) c.15394G>T (p.Val5132Leu) c.*507G>T (n.*507G>T) c.8692G>T (p.Val2898Leu) c.8671G>T (p.Val2891Leu) n.15569G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90810814T>A | CA360410014 | ADGRV1 | c.15554T>A (p.Val5185Glu) c.4508T>A (p.Val1503Glu) n.2821T>A c.265+134605T>A (n.265+134605T>A) c.1964T>A (p.Val655Glu) c.2537T>A (p.Val846Glu) n.15567T>A c.15551T>A (p.Val5184Glu) c.15473T>A (p.Val5158Glu) c.12857T>A (p.Val4286Glu) c.15575T>A (p.Val5192Glu) c.15572T>A (p.Val5191Glu) c.15494T>A (p.Val5165Glu) c.15479T>A (p.Val5160Glu) c.15395T>A (p.Val5132Glu) c.*508T>A (n.*508T>A) c.8693T>A (p.Val2898Glu) c.8672T>A (p.Val2891Glu) n.15570T>A | |
5 | g.90810814T>C | CA360410015 | ADGRV1 | c.15554T>C (p.Val5185Ala) c.4508T>C (p.Val1503Ala) n.2821T>C c.265+134605T>C (n.265+134605T>C) c.1964T>C (p.Val655Ala) c.2537T>C (p.Val846Ala) n.15567T>C c.15551T>C (p.Val5184Ala) c.15473T>C (p.Val5158Ala) c.12857T>C (p.Val4286Ala) c.15575T>C (p.Val5192Ala) c.15572T>C (p.Val5191Ala) c.15494T>C (p.Val5165Ala) c.15479T>C (p.Val5160Ala) c.15395T>C (p.Val5132Ala) c.*508T>C (n.*508T>C) c.8693T>C (p.Val2898Ala) c.8672T>C (p.Val2891Ala) n.15570T>C | |
5 | g.90810814T>G | CA360410017 | ADGRV1 | c.15554T>G (p.Val5185Gly) c.4508T>G (p.Val1503Gly) n.2821T>G c.265+134605T>G (n.265+134605T>G) c.1964T>G (p.Val655Gly) c.2537T>G (p.Val846Gly) n.15567T>G c.15551T>G (p.Val5184Gly) c.15473T>G (p.Val5158Gly) c.12857T>G (p.Val4286Gly) c.15575T>G (p.Val5192Gly) c.15572T>G (p.Val5191Gly) c.15494T>G (p.Val5165Gly) c.15479T>G (p.Val5160Gly) c.15395T>G (p.Val5132Gly) c.*508T>G (n.*508T>G) c.8693T>G (p.Val2898Gly) c.8672T>G (p.Val2891Gly) n.15570T>G | dbSNP gnomAD v2 |
5 | g.90810814T= | CA1562911538 | ADGRV1 | c.15554T= (p.Val5185=) c.4508T= (p.Val1503=) n.2821T= c.265+134605T= (n.265+134605T=) c.1964T= (p.Val655=) c.2537T= (p.Val846=) n.15567T= c.15551T= (p.Val5184=) c.15473T= (p.Val5158=) c.12857T= (p.Val4286=) c.15575T= (p.Val5192=) c.15572T= (p.Val5191=) c.15494T= (p.Val5165=) c.15479T= (p.Val5160=) c.15395T= (p.Val5132=) c.*508T= (n.*508T=) c.8693T= (p.Val2898=) c.8672T= (p.Val2891=) n.15570T= | |
5 | g.90810815A= | CA1562911539 | ADGRV1 | c.15555A= (p.Val5185=) c.4509A= (p.Val1503=) n.2822A= c.265+134606A= (n.265+134606A=) c.1965A= (p.Val655=) c.2538A= (p.Val846=) n.15568A= c.15552A= (p.Val5184=) c.15474A= (p.Val5158=) c.12858A= (p.Val4286=) c.15576A= (p.Val5192=) c.15573A= (p.Val5191=) c.15495A= (p.Val5165=) c.15480A= (p.Val5160=) c.15396A= (p.Val5132=) c.*509A= (n.*509A=) c.8694A= (p.Val2898=) c.8673A= (p.Val2891=) n.15571A= | |
5 | g.90810815A>C | CA445467740 | ADGRV1 | c.15555A>C (p.Val5185=) c.4509A>C (p.Val1503=) n.2822A>C c.265+134606A>C (n.265+134606A>C) c.1965A>C (p.Val655=) c.2538A>C (p.Val846=) n.15568A>C c.15552A>C (p.Val5184=) c.15474A>C (p.Val5158=) c.12858A>C (p.Val4286=) c.15576A>C (p.Val5192=) c.15573A>C (p.Val5191=) c.15495A>C (p.Val5165=) c.15480A>C (p.Val5160=) c.15396A>C (p.Val5132=) c.*509A>C (n.*509A>C) c.8694A>C (p.Val2898=) c.8673A>C (p.Val2891=) n.15571A>C | |
5 | g.90810815A>G | CA445467742 | ADGRV1 | c.15555A>G (p.Val5185=) c.4509A>G (p.Val1503=) n.2822A>G c.265+134606A>G (n.265+134606A>G) c.1965A>G (p.Val655=) c.2538A>G (p.Val846=) n.15568A>G c.15552A>G (p.Val5184=) c.15474A>G (p.Val5158=) c.12858A>G (p.Val4286=) c.15576A>G (p.Val5192=) c.15573A>G (p.Val5191=) c.15495A>G (p.Val5165=) c.15480A>G (p.Val5160=) c.15396A>G (p.Val5132=) c.*509A>G (n.*509A>G) c.8694A>G (p.Val2898=) c.8673A>G (p.Val2891=) n.15571A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90810815A>T | CA445467743 | ADGRV1 | c.15555A>T (p.Val5185=) c.4509A>T (p.Val1503=) n.2822A>T c.265+134606A>T (n.265+134606A>T) c.1965A>T (p.Val655=) c.2538A>T (p.Val846=) n.15568A>T c.15552A>T (p.Val5184=) c.15474A>T (p.Val5158=) c.12858A>T (p.Val4286=) c.15576A>T (p.Val5192=) c.15573A>T (p.Val5191=) c.15495A>T (p.Val5165=) c.15480A>T (p.Val5160=) c.15396A>T (p.Val5132=) c.*509A>T (n.*509A>T) c.8694A>T (p.Val2898=) c.8673A>T (p.Val2891=) n.15571A>T | |
5 | g.90810816T>A | CA360410018 | ADGRV1 | c.15556T>A (p.Ser5186Thr) c.4510T>A (p.Ser1504Thr) n.2823T>A c.265+134607T>A (n.265+134607T>A) c.1966T>A (p.Ser656Thr) c.2539T>A (p.Ser847Thr) n.15569T>A c.15553T>A (p.Ser5185Thr) c.15475T>A (p.Ser5159Thr) c.12859T>A (p.Ser4287Thr) c.15577T>A (p.Ser5193Thr) c.15574T>A (p.Ser5192Thr) c.15496T>A (p.Ser5166Thr) c.15481T>A (p.Ser5161Thr) c.15397T>A (p.Ser5133Thr) c.*510T>A (n.*510T>A) c.8695T>A (p.Ser2899Thr) c.8674T>A (p.Ser2892Thr) n.15572T>A | |
5 | g.90810816T>C | CA360410019 | ADGRV1 | c.15556T>C (p.Ser5186Pro) c.4510T>C (p.Ser1504Pro) n.2823T>C c.265+134607T>C (n.265+134607T>C) c.1966T>C (p.Ser656Pro) c.2539T>C (p.Ser847Pro) n.15569T>C c.15553T>C (p.Ser5185Pro) c.15475T>C (p.Ser5159Pro) c.12859T>C (p.Ser4287Pro) c.15577T>C (p.Ser5193Pro) c.15574T>C (p.Ser5192Pro) c.15496T>C (p.Ser5166Pro) c.15481T>C (p.Ser5161Pro) c.15397T>C (p.Ser5133Pro) c.*510T>C (n.*510T>C) c.8695T>C (p.Ser2899Pro) c.8674T>C (p.Ser2892Pro) n.15572T>C | |
5 | g.90810816T>G | CA360410021 | ADGRV1 | c.15556T>G (p.Ser5186Ala) c.4510T>G (p.Ser1504Ala) n.2823T>G c.265+134607T>G (n.265+134607T>G) c.1966T>G (p.Ser656Ala) c.2539T>G (p.Ser847Ala) n.15569T>G c.15553T>G (p.Ser5185Ala) c.15475T>G (p.Ser5159Ala) c.12859T>G (p.Ser4287Ala) c.15577T>G (p.Ser5193Ala) c.15574T>G (p.Ser5192Ala) c.15496T>G (p.Ser5166Ala) c.15481T>G (p.Ser5161Ala) c.15397T>G (p.Ser5133Ala) c.*510T>G (n.*510T>G) c.8695T>G (p.Ser2899Ala) c.8674T>G (p.Ser2892Ala) n.15572T>G | |
5 | g.90810817C>A | CA360410026 | ADGRV1 | c.15557C>A (p.Ser5186Tyr) c.4511C>A (p.Ser1504Tyr) n.2824C>A c.265+134608C>A (n.265+134608C>A) c.1967C>A (p.Ser656Tyr) c.2540C>A (p.Ser847Tyr) n.15570C>A c.15554C>A (p.Ser5185Tyr) c.15476C>A (p.Ser5159Tyr) c.12860C>A (p.Ser4287Tyr) c.15578C>A (p.Ser5193Tyr) c.15575C>A (p.Ser5192Tyr) c.15497C>A (p.Ser5166Tyr) c.15482C>A (p.Ser5161Tyr) c.15398C>A (p.Ser5133Tyr) c.*511C>A (n.*511C>A) c.8696C>A (p.Ser2899Tyr) c.8675C>A (p.Ser2892Tyr) n.15573C>A | |
5 | g.90810817C>G | CA360410028 | ADGRV1 | c.15557C>G (p.Ser5186Cys) c.4511C>G (p.Ser1504Cys) n.2824C>G c.265+134608C>G (n.265+134608C>G) c.1967C>G (p.Ser656Cys) c.2540C>G (p.Ser847Cys) n.15570C>G c.15554C>G (p.Ser5185Cys) c.15476C>G (p.Ser5159Cys) c.12860C>G (p.Ser4287Cys) c.15578C>G (p.Ser5193Cys) c.15575C>G (p.Ser5192Cys) c.15497C>G (p.Ser5166Cys) c.15482C>G (p.Ser5161Cys) c.15398C>G (p.Ser5133Cys) c.*511C>G (n.*511C>G) c.8696C>G (p.Ser2899Cys) c.8675C>G (p.Ser2892Cys) n.15573C>G | |
5 | g.90810817C>T | CA360410024 | ADGRV1 | c.15557C>T (p.Ser5186Phe) c.4511C>T (p.Ser1504Phe) n.2824C>T c.265+134608C>T (n.265+134608C>T) c.1967C>T (p.Ser656Phe) c.2540C>T (p.Ser847Phe) n.15570C>T c.15554C>T (p.Ser5185Phe) c.15476C>T (p.Ser5159Phe) c.12860C>T (p.Ser4287Phe) c.15578C>T (p.Ser5193Phe) c.15575C>T (p.Ser5192Phe) c.15497C>T (p.Ser5166Phe) c.15482C>T (p.Ser5161Phe) c.15398C>T (p.Ser5133Phe) c.*511C>T (n.*511C>T) c.8696C>T (p.Ser2899Phe) c.8675C>T (p.Ser2892Phe) n.15573C>T | gnomAD v4 |
5 | g.90810818T>A | CA445467744 | ADGRV1 | c.15558T>A (p.Ser5186=) c.4512T>A (p.Ser1504=) n.2825T>A c.265+134609T>A (n.265+134609T>A) c.1968T>A (p.Ser656=) c.2541T>A (p.Ser847=) n.15571T>A c.15555T>A (p.Ser5185=) c.15477T>A (p.Ser5159=) c.12861T>A (p.Ser4287=) c.15579T>A (p.Ser5193=) c.15576T>A (p.Ser5192=) c.15498T>A (p.Ser5166=) c.15483T>A (p.Ser5161=) c.15399T>A (p.Ser5133=) c.*512T>A (n.*512T>A) c.8697T>A (p.Ser2899=) c.8676T>A (p.Ser2892=) n.15574T>A | |
5 | g.90810818T>C | CA445467746 | ADGRV1 | c.15558T>C (p.Ser5186=) c.4512T>C (p.Ser1504=) n.2825T>C c.265+134609T>C (n.265+134609T>C) c.1968T>C (p.Ser656=) c.2541T>C (p.Ser847=) n.15571T>C c.15555T>C (p.Ser5185=) c.15477T>C (p.Ser5159=) c.12861T>C (p.Ser4287=) c.15579T>C (p.Ser5193=) c.15576T>C (p.Ser5192=) c.15498T>C (p.Ser5166=) c.15483T>C (p.Ser5161=) c.15399T>C (p.Ser5133=) c.*512T>C (n.*512T>C) c.8697T>C (p.Ser2899=) c.8676T>C (p.Ser2892=) n.15574T>C | |
5 | g.90810818T>G | CA445467745 | ADGRV1 | c.15558T>G (p.Ser5186=) c.4512T>G (p.Ser1504=) n.2825T>G c.265+134609T>G (n.265+134609T>G) c.1968T>G (p.Ser656=) c.2541T>G (p.Ser847=) n.15571T>G c.15555T>G (p.Ser5185=) c.15477T>G (p.Ser5159=) c.12861T>G (p.Ser4287=) c.15579T>G (p.Ser5193=) c.15576T>G (p.Ser5192=) c.15498T>G (p.Ser5166=) c.15483T>G (p.Ser5161=) c.15399T>G (p.Ser5133=) c.*512T>G (n.*512T>G) c.8697T>G (p.Ser2899=) c.8676T>G (p.Ser2892=) n.15574T>G | |
5 | g.90810819G>A | CA360410034 | ADGRV1 | c.15559G>A (p.Ala5187Thr) c.4513G>A (p.Ala1505Thr) n.2826G>A c.265+134610G>A (n.265+134610G>A) c.1969G>A (p.Ala657Thr) c.2542G>A (p.Ala848Thr) n.15572G>A c.15556G>A (p.Ala5186Thr) c.15478G>A (p.Ala5160Thr) c.12862G>A (p.Ala4288Thr) c.15580G>A (p.Ala5194Thr) c.15577G>A (p.Ala5193Thr) c.15499G>A (p.Ala5167Thr) c.15484G>A (p.Ala5162Thr) c.15400G>A (p.Ala5134Thr) c.*513G>A (n.*513G>A) c.8698G>A (p.Ala2900Thr) c.8677G>A (p.Ala2893Thr) n.15575G>A | |
5 | g.90810819G>C | CA360410031 | ADGRV1 | c.15559G>C (p.Ala5187Pro) c.4513G>C (p.Ala1505Pro) n.2826G>C c.265+134610G>C (n.265+134610G>C) c.1969G>C (p.Ala657Pro) c.2542G>C (p.Ala848Pro) n.15572G>C c.15556G>C (p.Ala5186Pro) c.15478G>C (p.Ala5160Pro) c.12862G>C (p.Ala4288Pro) c.15580G>C (p.Ala5194Pro) c.15577G>C (p.Ala5193Pro) c.15499G>C (p.Ala5167Pro) c.15484G>C (p.Ala5162Pro) c.15400G>C (p.Ala5134Pro) c.*513G>C (n.*513G>C) c.8698G>C (p.Ala2900Pro) c.8677G>C (p.Ala2893Pro) n.15575G>C | gnomAD v4 |
5 | g.90810819G>T | CA360410032 | ADGRV1 | c.15559G>T (p.Ala5187Ser) c.4513G>T (p.Ala1505Ser) n.2826G>T c.265+134610G>T (n.265+134610G>T) c.1969G>T (p.Ala657Ser) c.2542G>T (p.Ala848Ser) n.15572G>T c.15556G>T (p.Ala5186Ser) c.15478G>T (p.Ala5160Ser) c.12862G>T (p.Ala4288Ser) c.15580G>T (p.Ala5194Ser) c.15577G>T (p.Ala5193Ser) c.15499G>T (p.Ala5167Ser) c.15484G>T (p.Ala5162Ser) c.15400G>T (p.Ala5134Ser) c.*513G>T (n.*513G>T) c.8698G>T (p.Ala2900Ser) c.8677G>T (p.Ala2893Ser) n.15575G>T | |
5 | g.90810820C>A | CA360410036 | ADGRV1 | c.15560C>A (p.Ala5187Asp) c.4514C>A (p.Ala1505Asp) n.2827C>A c.265+134611C>A (n.265+134611C>A) c.1970C>A (p.Ala657Asp) c.2543C>A (p.Ala848Asp) n.15573C>A c.15557C>A (p.Ala5186Asp) c.15479C>A (p.Ala5160Asp) c.12863C>A (p.Ala4288Asp) c.15581C>A (p.Ala5194Asp) c.15578C>A (p.Ala5193Asp) c.15500C>A (p.Ala5167Asp) c.15485C>A (p.Ala5162Asp) c.15401C>A (p.Ala5134Asp) c.*514C>A (n.*514C>A) c.8699C>A (p.Ala2900Asp) c.8678C>A (p.Ala2893Asp) n.15576C>A | |
5 | g.90810820C= | CA1562911540 | ADGRV1 | c.15560C= (p.Ala5187=) c.4514C= (p.Ala1505=) n.2827C= c.265+134611C= (n.265+134611C=) c.1970C= (p.Ala657=) c.2543C= (p.Ala848=) n.15573C= c.15557C= (p.Ala5186=) c.15479C= (p.Ala5160=) c.12863C= (p.Ala4288=) c.15581C= (p.Ala5194=) c.15578C= (p.Ala5193=) c.15500C= (p.Ala5167=) c.15485C= (p.Ala5162=) c.15401C= (p.Ala5134=) c.*514C= (n.*514C=) c.8699C= (p.Ala2900=) c.8678C= (p.Ala2893=) n.15576C= | |
5 | g.90810820C>G | CA360410038 | ADGRV1 | c.15560C>G (p.Ala5187Gly) c.4514C>G (p.Ala1505Gly) n.2827C>G c.265+134611C>G (n.265+134611C>G) c.1970C>G (p.Ala657Gly) c.2543C>G (p.Ala848Gly) n.15573C>G c.15557C>G (p.Ala5186Gly) c.15479C>G (p.Ala5160Gly) c.12863C>G (p.Ala4288Gly) c.15581C>G (p.Ala5194Gly) c.15578C>G (p.Ala5193Gly) c.15500C>G (p.Ala5167Gly) c.15485C>G (p.Ala5162Gly) c.15401C>G (p.Ala5134Gly) c.*514C>G (n.*514C>G) c.8699C>G (p.Ala2900Gly) c.8678C>G (p.Ala2893Gly) n.15576C>G | |
5 | g.90810820C>T | CA3341944 | ADGRV1 | c.15560C>T (p.Ala5187Val) c.4514C>T (p.Ala1505Val) n.2827C>T c.265+134611C>T (n.265+134611C>T) c.1970C>T (p.Ala657Val) c.2543C>T (p.Ala848Val) n.15573C>T c.15557C>T (p.Ala5186Val) c.15479C>T (p.Ala5160Val) c.12863C>T (p.Ala4288Val) c.15581C>T (p.Ala5194Val) c.15578C>T (p.Ala5193Val) c.15500C>T (p.Ala5167Val) c.15485C>T (p.Ala5162Val) c.15401C>T (p.Ala5134Val) c.*514C>T (n.*514C>T) c.8699C>T (p.Ala2900Val) c.8678C>T (p.Ala2893Val) n.15576C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90810821C>A | CA445467752 | ADGRV1 | c.15561C>A (p.Ala5187=) c.4515C>A (p.Ala1505=) n.2828C>A c.265+134612C>A (n.265+134612C>A) c.1971C>A (p.Ala657=) c.2544C>A (p.Ala848=) n.15574C>A c.15558C>A (p.Ala5186=) c.15480C>A (p.Ala5160=) c.12864C>A (p.Ala4288=) c.15582C>A (p.Ala5194=) c.15579C>A (p.Ala5193=) c.15501C>A (p.Ala5167=) c.15486C>A (p.Ala5162=) c.15402C>A (p.Ala5134=) c.*515C>A (n.*515C>A) c.8700C>A (p.Ala2900=) c.8679C>A (p.Ala2893=) n.15577C>A | |
5 | g.90810821C>G | CA445467753 | ADGRV1 | c.15561C>G (p.Ala5187=) c.4515C>G (p.Ala1505=) n.2828C>G c.265+134612C>G (n.265+134612C>G) c.1971C>G (p.Ala657=) c.2544C>G (p.Ala848=) n.15574C>G c.15558C>G (p.Ala5186=) c.15480C>G (p.Ala5160=) c.12864C>G (p.Ala4288=) c.15582C>G (p.Ala5194=) c.15579C>G (p.Ala5193=) c.15501C>G (p.Ala5167=) c.15486C>G (p.Ala5162=) c.15402C>G (p.Ala5134=) c.*515C>G (n.*515C>G) c.8700C>G (p.Ala2900=) c.8679C>G (p.Ala2893=) n.15577C>G | |
5 | g.90810821C>T | CA445467754 | ADGRV1 | c.15561C>T (p.Ala5187=) c.4515C>T (p.Ala1505=) n.2828C>T c.265+134612C>T (n.265+134612C>T) c.1971C>T (p.Ala657=) c.2544C>T (p.Ala848=) n.15574C>T c.15558C>T (p.Ala5186=) c.15480C>T (p.Ala5160=) c.12864C>T (p.Ala4288=) c.15582C>T (p.Ala5194=) c.15579C>T (p.Ala5193=) c.15501C>T (p.Ala5167=) c.15486C>T (p.Ala5162=) c.15402C>T (p.Ala5134=) c.*515C>T (n.*515C>T) c.8700C>T (p.Ala2900=) c.8679C>T (p.Ala2893=) n.15577C>T | |
5 | g.90810822A>C | CA360410041 | ADGRV1 | c.15562A>C (p.Ile5188Leu) c.4516A>C (p.Ile1506Leu) n.2829A>C c.265+134613A>C (n.265+134613A>C) c.1972A>C (p.Ile658Leu) c.2545A>C (p.Ile849Leu) n.15575A>C c.15559A>C (p.Ile5187Leu) c.15481A>C (p.Ile5161Leu) c.12865A>C (p.Ile4289Leu) c.15583A>C (p.Ile5195Leu) c.15580A>C (p.Ile5194Leu) c.15502A>C (p.Ile5168Leu) c.15487A>C (p.Ile5163Leu) c.15403A>C (p.Ile5135Leu) c.*516A>C (n.*516A>C) c.8701A>C (p.Ile2901Leu) c.8680A>C (p.Ile2894Leu) n.15578A>C | |
5 | g.90810822A>G | CA360410043 | ADGRV1 | c.15562A>G (p.Ile5188Val) c.4516A>G (p.Ile1506Val) n.2829A>G c.265+134613A>G (n.265+134613A>G) c.1972A>G (p.Ile658Val) c.2545A>G (p.Ile849Val) n.15575A>G c.15559A>G (p.Ile5187Val) c.15481A>G (p.Ile5161Val) c.12865A>G (p.Ile4289Val) c.15583A>G (p.Ile5195Val) c.15580A>G (p.Ile5194Val) c.15502A>G (p.Ile5168Val) c.15487A>G (p.Ile5163Val) c.15403A>G (p.Ile5135Val) c.*516A>G (n.*516A>G) c.8701A>G (p.Ile2901Val) c.8680A>G (p.Ile2894Val) n.15578A>G | |
5 | g.90810822A>T | CA360410044 | ADGRV1 | c.15562A>T (p.Ile5188Phe) c.4516A>T (p.Ile1506Phe) n.2829A>T c.265+134613A>T (n.265+134613A>T) c.1972A>T (p.Ile658Phe) c.2545A>T (p.Ile849Phe) n.15575A>T c.15559A>T (p.Ile5187Phe) c.15481A>T (p.Ile5161Phe) c.12865A>T (p.Ile4289Phe) c.15583A>T (p.Ile5195Phe) c.15580A>T (p.Ile5194Phe) c.15502A>T (p.Ile5168Phe) c.15487A>T (p.Ile5163Phe) c.15403A>T (p.Ile5135Phe) c.*516A>T (n.*516A>T) c.8701A>T (p.Ile2901Phe) c.8680A>T (p.Ile2894Phe) n.15578A>T | |
5 | g.90810823T>A | CA360410046 | ADGRV1 | c.15563T>A (p.Ile5188Asn) c.4517T>A (p.Ile1506Asn) n.2830T>A c.265+134614T>A (n.265+134614T>A) c.1973T>A (p.Ile658Asn) c.2546T>A (p.Ile849Asn) n.15576T>A c.15560T>A (p.Ile5187Asn) c.15482T>A (p.Ile5161Asn) c.12866T>A (p.Ile4289Asn) c.15584T>A (p.Ile5195Asn) c.15581T>A (p.Ile5194Asn) c.15503T>A (p.Ile5168Asn) c.15488T>A (p.Ile5163Asn) c.15404T>A (p.Ile5135Asn) c.*517T>A (n.*517T>A) c.8702T>A (p.Ile2901Asn) c.8681T>A (p.Ile2894Asn) n.15579T>A | |
5 | g.90810823T>C | CA360410047 | ADGRV1 | c.15563T>C (p.Ile5188Thr) c.4517T>C (p.Ile1506Thr) n.2830T>C c.265+134614T>C (n.265+134614T>C) c.1973T>C (p.Ile658Thr) c.2546T>C (p.Ile849Thr) n.15576T>C c.15560T>C (p.Ile5187Thr) c.15482T>C (p.Ile5161Thr) c.12866T>C (p.Ile4289Thr) c.15584T>C (p.Ile5195Thr) c.15581T>C (p.Ile5194Thr) c.15503T>C (p.Ile5168Thr) c.15488T>C (p.Ile5163Thr) c.15404T>C (p.Ile5135Thr) c.*517T>C (n.*517T>C) c.8702T>C (p.Ile2901Thr) c.8681T>C (p.Ile2894Thr) n.15579T>C | |
5 | g.90810823T>G | CA360410049 | ADGRV1 | c.15563T>G (p.Ile5188Ser) c.4517T>G (p.Ile1506Ser) n.2830T>G c.265+134614T>G (n.265+134614T>G) c.1973T>G (p.Ile658Ser) c.2546T>G (p.Ile849Ser) n.15576T>G c.15560T>G (p.Ile5187Ser) c.15482T>G (p.Ile5161Ser) c.12866T>G (p.Ile4289Ser) c.15584T>G (p.Ile5195Ser) c.15581T>G (p.Ile5194Ser) c.15503T>G (p.Ile5168Ser) c.15488T>G (p.Ile5163Ser) c.15404T>G (p.Ile5135Ser) c.*517T>G (n.*517T>G) c.8702T>G (p.Ile2901Ser) c.8681T>G (p.Ile2894Ser) n.15579T>G | |
5 | g.90810824C>A | CA445467757 | ADGRV1 | c.15564C>A (p.Ile5188=) c.4518C>A (p.Ile1506=) n.2831C>A c.265+134615C>A (n.265+134615C>A) c.1974C>A (p.Ile658=) c.2547C>A (p.Ile849=) n.15577C>A c.15561C>A (p.Ile5187=) c.15483C>A (p.Ile5161=) c.12867C>A (p.Ile4289=) c.15585C>A (p.Ile5195=) c.15582C>A (p.Ile5194=) c.15504C>A (p.Ile5168=) c.15489C>A (p.Ile5163=) c.15405C>A (p.Ile5135=) c.*518C>A (n.*518C>A) c.8703C>A (p.Ile2901=) c.8682C>A (p.Ile2894=) n.15580C>A | |
5 | g.90810824C>G | CA360410052 | ADGRV1 | c.15564C>G (p.Ile5188Met) c.4518C>G (p.Ile1506Met) n.2831C>G c.265+134615C>G (n.265+134615C>G) c.1974C>G (p.Ile658Met) c.2547C>G (p.Ile849Met) n.15577C>G c.15561C>G (p.Ile5187Met) c.15483C>G (p.Ile5161Met) c.12867C>G (p.Ile4289Met) c.15585C>G (p.Ile5195Met) c.15582C>G (p.Ile5194Met) c.15504C>G (p.Ile5168Met) c.15489C>G (p.Ile5163Met) c.15405C>G (p.Ile5135Met) c.*518C>G (n.*518C>G) c.8703C>G (p.Ile2901Met) c.8682C>G (p.Ile2894Met) n.15580C>G | |
5 | g.90810824C>T | CA445467759 | ADGRV1 | c.15564C>T (p.Ile5188=) c.4518C>T (p.Ile1506=) n.2831C>T c.265+134615C>T (n.265+134615C>T) c.1974C>T (p.Ile658=) c.2547C>T (p.Ile849=) n.15577C>T c.15561C>T (p.Ile5187=) c.15483C>T (p.Ile5161=) c.12867C>T (p.Ile4289=) c.15585C>T (p.Ile5195=) c.15582C>T (p.Ile5194=) c.15504C>T (p.Ile5168=) c.15489C>T (p.Ile5163=) c.15405C>T (p.Ile5135=) c.*518C>T (n.*518C>T) c.8703C>T (p.Ile2901=) c.8682C>T (p.Ile2894=) n.15580C>T | ClinVar dbSNP gnomAD v4 |
5 | g.90810825C>A | CA360410056 | ADGRV1 | c.15565C>A (p.Pro5189Thr) c.4519C>A (p.Pro1507Thr) n.2832C>A c.265+134616C>A (n.265+134616C>A) c.1975C>A (p.Pro659Thr) c.2548C>A (p.Pro850Thr) n.15578C>A c.15562C>A (p.Pro5188Thr) c.15484C>A (p.Pro5162Thr) c.12868C>A (p.Pro4290Thr) c.15586C>A (p.Pro5196Thr) c.15583C>A (p.Pro5195Thr) c.15505C>A (p.Pro5169Thr) c.15490C>A (p.Pro5164Thr) c.15406C>A (p.Pro5136Thr) c.*519C>A (n.*519C>A) c.8704C>A (p.Pro2902Thr) c.8683C>A (p.Pro2895Thr) n.15581C>A | |
5 | g.90810825C= | CA1562911541 | ADGRV1 | c.15565C= (p.Pro5189=) c.4519C= (p.Pro1507=) n.2832C= c.265+134616C= (n.265+134616C=) c.1975C= (p.Pro659=) c.2548C= (p.Pro850=) n.15578C= c.15562C= (p.Pro5188=) c.15484C= (p.Pro5162=) c.12868C= (p.Pro4290=) c.15586C= (p.Pro5196=) c.15583C= (p.Pro5195=) c.15505C= (p.Pro5169=) c.15490C= (p.Pro5164=) c.15406C= (p.Pro5136=) c.*519C= (n.*519C=) c.8704C= (p.Pro2902=) c.8683C= (p.Pro2895=) n.15581C= | |
5 | g.90810825C>G | CA3341945 | ADGRV1 | c.15565C>G (p.Pro5189Ala) c.4519C>G (p.Pro1507Ala) n.2832C>G c.265+134616C>G (n.265+134616C>G) c.1975C>G (p.Pro659Ala) c.2548C>G (p.Pro850Ala) n.15578C>G c.15562C>G (p.Pro5188Ala) c.15484C>G (p.Pro5162Ala) c.12868C>G (p.Pro4290Ala) c.15586C>G (p.Pro5196Ala) c.15583C>G (p.Pro5195Ala) c.15505C>G (p.Pro5169Ala) c.15490C>G (p.Pro5164Ala) c.15406C>G (p.Pro5136Ala) c.*519C>G (n.*519C>G) c.8704C>G (p.Pro2902Ala) c.8683C>G (p.Pro2895Ala) n.15581C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810825C>T | CA360410054 | ADGRV1 | c.15565C>T (p.Pro5189Ser) c.4519C>T (p.Pro1507Ser) n.2832C>T c.265+134616C>T (n.265+134616C>T) c.1975C>T (p.Pro659Ser) c.2548C>T (p.Pro850Ser) n.15578C>T c.15562C>T (p.Pro5188Ser) c.15484C>T (p.Pro5162Ser) c.12868C>T (p.Pro4290Ser) c.15586C>T (p.Pro5196Ser) c.15583C>T (p.Pro5195Ser) c.15505C>T (p.Pro5169Ser) c.15490C>T (p.Pro5164Ser) c.15406C>T (p.Pro5136Ser) c.*519C>T (n.*519C>T) c.8704C>T (p.Pro2902Ser) c.8683C>T (p.Pro2895Ser) n.15581C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90810826C>A | CA360410059 | ADGRV1 | c.15566C>A (p.Pro5189His) c.4520C>A (p.Pro1507His) n.2833C>A c.265+134617C>A (n.265+134617C>A) c.1976C>A (p.Pro659His) c.2549C>A (p.Pro850His) n.15579C>A c.15563C>A (p.Pro5188His) c.15485C>A (p.Pro5162His) c.12869C>A (p.Pro4290His) c.15587C>A (p.Pro5196His) c.15584C>A (p.Pro5195His) c.15506C>A (p.Pro5169His) c.15491C>A (p.Pro5164His) c.15407C>A (p.Pro5136His) c.*520C>A (n.*520C>A) c.8705C>A (p.Pro2902His) c.8684C>A (p.Pro2895His) n.15582C>A | |
5 | g.90810826C= | CA1562911542 | ADGRV1 | c.15566C= (p.Pro5189=) c.4520C= (p.Pro1507=) n.2833C= c.265+134617C= (n.265+134617C=) c.1976C= (p.Pro659=) c.2549C= (p.Pro850=) n.15579C= c.15563C= (p.Pro5188=) c.15485C= (p.Pro5162=) c.12869C= (p.Pro4290=) c.15587C= (p.Pro5196=) c.15584C= (p.Pro5195=) c.15506C= (p.Pro5169=) c.15491C= (p.Pro5164=) c.15407C= (p.Pro5136=) c.*520C= (n.*520C=) c.8705C= (p.Pro2902=) c.8684C= (p.Pro2895=) n.15582C= | |
5 | g.90810826C>G | CA360410061 | ADGRV1 | c.15566C>G (p.Pro5189Arg) c.4520C>G (p.Pro1507Arg) n.2833C>G c.265+134617C>G (n.265+134617C>G) c.1976C>G (p.Pro659Arg) c.2549C>G (p.Pro850Arg) n.15579C>G c.15563C>G (p.Pro5188Arg) c.15485C>G (p.Pro5162Arg) c.12869C>G (p.Pro4290Arg) c.15587C>G (p.Pro5196Arg) c.15584C>G (p.Pro5195Arg) c.15506C>G (p.Pro5169Arg) c.15491C>G (p.Pro5164Arg) c.15407C>G (p.Pro5136Arg) c.*520C>G (n.*520C>G) c.8705C>G (p.Pro2902Arg) c.8684C>G (p.Pro2895Arg) n.15582C>G | |
5 | g.90810826C>T | CA122821841 | ADGRV1 | c.15566C>T (p.Pro5189Leu) c.4520C>T (p.Pro1507Leu) n.2833C>T c.265+134617C>T (n.265+134617C>T) c.1976C>T (p.Pro659Leu) c.2549C>T (p.Pro850Leu) n.15579C>T c.15563C>T (p.Pro5188Leu) c.15485C>T (p.Pro5162Leu) c.12869C>T (p.Pro4290Leu) c.15587C>T (p.Pro5196Leu) c.15584C>T (p.Pro5195Leu) c.15506C>T (p.Pro5169Leu) c.15491C>T (p.Pro5164Leu) c.15407C>T (p.Pro5136Leu) c.*520C>T (n.*520C>T) c.8705C>T (p.Pro2902Leu) c.8684C>T (p.Pro2895Leu) n.15582C>T | ClinVar dbSNP |
5 | g.90810827T>A | CA445467764 | ADGRV1 | c.15567T>A (p.Pro5189=) c.4521T>A (p.Pro1507=) n.2834T>A c.265+134618T>A (n.265+134618T>A) c.1977T>A (p.Pro659=) c.2550T>A (p.Pro850=) n.15580T>A c.15564T>A (p.Pro5188=) c.15486T>A (p.Pro5162=) c.12870T>A (p.Pro4290=) c.15588T>A (p.Pro5196=) c.15585T>A (p.Pro5195=) c.15507T>A (p.Pro5169=) c.15492T>A (p.Pro5164=) c.15408T>A (p.Pro5136=) c.*521T>A (n.*521T>A) c.8706T>A (p.Pro2902=) c.8685T>A (p.Pro2895=) n.15583T>A | |
5 | g.90810827T>C | CA445467765 | ADGRV1 | c.15567T>C (p.Pro5189=) c.4521T>C (p.Pro1507=) n.2834T>C c.265+134618T>C (n.265+134618T>C) c.1977T>C (p.Pro659=) c.2550T>C (p.Pro850=) n.15580T>C c.15564T>C (p.Pro5188=) c.15486T>C (p.Pro5162=) c.12870T>C (p.Pro4290=) c.15588T>C (p.Pro5196=) c.15585T>C (p.Pro5195=) c.15507T>C (p.Pro5169=) c.15492T>C (p.Pro5164=) c.15408T>C (p.Pro5136=) c.*521T>C (n.*521T>C) c.8706T>C (p.Pro2902=) c.8685T>C (p.Pro2895=) n.15583T>C | |
5 | g.90810827T>G | CA445467766 | ADGRV1 | c.15567T>G (p.Pro5189=) c.4521T>G (p.Pro1507=) n.2834T>G c.265+134618T>G (n.265+134618T>G) c.1977T>G (p.Pro659=) c.2550T>G (p.Pro850=) n.15580T>G c.15564T>G (p.Pro5188=) c.15486T>G (p.Pro5162=) c.12870T>G (p.Pro4290=) c.15588T>G (p.Pro5196=) c.15585T>G (p.Pro5195=) c.15507T>G (p.Pro5169=) c.15492T>G (p.Pro5164=) c.15408T>G (p.Pro5136=) c.*521T>G (n.*521T>G) c.8706T>G (p.Pro2902=) c.8685T>G (p.Pro2895=) n.15583T>G | |
5 | g.90810828G>A | CA360410063 | ADGRV1 | c.15568G>A (p.Glu5190Lys) c.4522G>A (p.Glu1508Lys) n.2835G>A c.265+134619G>A (n.265+134619G>A) c.1978G>A (p.Glu660Lys) c.2551G>A (p.Glu851Lys) n.15581G>A c.15565G>A (p.Glu5189Lys) c.15487G>A (p.Glu5163Lys) c.12871G>A (p.Glu4291Lys) c.15589G>A (p.Glu5197Lys) c.15586G>A (p.Glu5196Lys) c.15508G>A (p.Glu5170Lys) c.15493G>A (p.Glu5165Lys) c.15409G>A (p.Glu5137Lys) c.*522G>A (n.*522G>A) c.8707G>A (p.Glu2903Lys) c.8686G>A (p.Glu2896Lys) n.15584G>A | COSMIC |
5 | g.90810828G>C | CA360410065 | ADGRV1 | c.15568G>C (p.Glu5190Gln) c.4522G>C (p.Glu1508Gln) n.2835G>C c.265+134619G>C (n.265+134619G>C) c.1978G>C (p.Glu660Gln) c.2551G>C (p.Glu851Gln) n.15581G>C c.15565G>C (p.Glu5189Gln) c.15487G>C (p.Glu5163Gln) c.12871G>C (p.Glu4291Gln) c.15589G>C (p.Glu5197Gln) c.15586G>C (p.Glu5196Gln) c.15508G>C (p.Glu5170Gln) c.15493G>C (p.Glu5165Gln) c.15409G>C (p.Glu5137Gln) c.*522G>C (n.*522G>C) c.8707G>C (p.Glu2903Gln) c.8686G>C (p.Glu2896Gln) n.15584G>C | |
5 | g.90810828G>T | CA360410067 | ADGRV1 | c.15568G>T (p.Glu5190Ter) c.4522G>T (p.Glu1508Ter) n.2835G>T c.265+134619G>T (n.265+134619G>T) c.1978G>T (p.Glu660Ter) c.2551G>T (p.Glu851Ter) n.15581G>T c.15565G>T (p.Glu5189Ter) c.15487G>T (p.Glu5163Ter) c.12871G>T (p.Glu4291Ter) c.15589G>T (p.Glu5197Ter) c.15586G>T (p.Glu5196Ter) c.15508G>T (p.Glu5170Ter) c.15493G>T (p.Glu5165Ter) c.15409G>T (p.Glu5137Ter) c.*522G>T (n.*522G>T) c.8707G>T (p.Glu2903Ter) c.8686G>T (p.Glu2896Ter) n.15584G>T | |
5 | g.90810829A>C | CA360410069 | ADGRV1 | c.15569A>C (p.Glu5190Ala) c.4523A>C (p.Glu1508Ala) n.2836A>C c.265+134620A>C (n.265+134620A>C) c.1979A>C (p.Glu660Ala) c.2552A>C (p.Glu851Ala) n.15582A>C c.15566A>C (p.Glu5189Ala) c.15488A>C (p.Glu5163Ala) c.12872A>C (p.Glu4291Ala) c.15590A>C (p.Glu5197Ala) c.15587A>C (p.Glu5196Ala) c.15509A>C (p.Glu5170Ala) c.15494A>C (p.Glu5165Ala) c.15410A>C (p.Glu5137Ala) c.*523A>C (n.*523A>C) c.8708A>C (p.Glu2903Ala) c.8687A>C (p.Glu2896Ala) n.15585A>C | |
5 | g.90810829A>G | CA360410070 | ADGRV1 | c.15569A>G (p.Glu5190Gly) c.4523A>G (p.Glu1508Gly) n.2836A>G c.265+134620A>G (n.265+134620A>G) c.1979A>G (p.Glu660Gly) c.2552A>G (p.Glu851Gly) n.15582A>G c.15566A>G (p.Glu5189Gly) c.15488A>G (p.Glu5163Gly) c.12872A>G (p.Glu4291Gly) c.15590A>G (p.Glu5197Gly) c.15587A>G (p.Glu5196Gly) c.15509A>G (p.Glu5170Gly) c.15494A>G (p.Glu5165Gly) c.15410A>G (p.Glu5137Gly) c.*523A>G (n.*523A>G) c.8708A>G (p.Glu2903Gly) c.8687A>G (p.Glu2896Gly) n.15585A>G | |
5 | g.90810829A>T | CA360410072 | ADGRV1 | c.15569A>T (p.Glu5190Val) c.4523A>T (p.Glu1508Val) n.2836A>T c.265+134620A>T (n.265+134620A>T) c.1979A>T (p.Glu660Val) c.2552A>T (p.Glu851Val) n.15582A>T c.15566A>T (p.Glu5189Val) c.15488A>T (p.Glu5163Val) c.12872A>T (p.Glu4291Val) c.15590A>T (p.Glu5197Val) c.15587A>T (p.Glu5196Val) c.15509A>T (p.Glu5170Val) c.15494A>T (p.Glu5165Val) c.15410A>T (p.Glu5137Val) c.*523A>T (n.*523A>T) c.8708A>T (p.Glu2903Val) c.8687A>T (p.Glu2896Val) n.15585A>T | |
5 | g.90810830G>A | CA445467769 | ADGRV1 | c.15570G>A (p.Glu5190=) c.4524G>A (p.Glu1508=) n.2837G>A c.265+134621G>A (n.265+134621G>A) c.1980G>A (p.Glu660=) c.2553G>A (p.Glu851=) n.15583G>A c.15567G>A (p.Glu5189=) c.15489G>A (p.Glu5163=) c.12873G>A (p.Glu4291=) c.15591G>A (p.Glu5197=) c.15588G>A (p.Glu5196=) c.15510G>A (p.Glu5170=) c.15495G>A (p.Glu5165=) c.15411G>A (p.Glu5137=) c.*524G>A (n.*524G>A) c.8709G>A (p.Glu2903=) c.8688G>A (p.Glu2896=) n.15586G>A | ClinVar |
5 | g.90810830G>C | CA360410073 | ADGRV1 | c.15570G>C (p.Glu5190Asp) c.4524G>C (p.Glu1508Asp) n.2837G>C c.265+134621G>C (n.265+134621G>C) c.1980G>C (p.Glu660Asp) c.2553G>C (p.Glu851Asp) n.15583G>C c.15567G>C (p.Glu5189Asp) c.15489G>C (p.Glu5163Asp) c.12873G>C (p.Glu4291Asp) c.15591G>C (p.Glu5197Asp) c.15588G>C (p.Glu5196Asp) c.15510G>C (p.Glu5170Asp) c.15495G>C (p.Glu5165Asp) c.15411G>C (p.Glu5137Asp) c.*524G>C (n.*524G>C) c.8709G>C (p.Glu2903Asp) c.8688G>C (p.Glu2896Asp) n.15586G>C | gnomAD v4 |
5 | g.90810830G>T | CA360410075 | ADGRV1 | c.15570G>T (p.Glu5190Asp) c.4524G>T (p.Glu1508Asp) n.2837G>T c.265+134621G>T (n.265+134621G>T) c.1980G>T (p.Glu660Asp) c.2553G>T (p.Glu851Asp) n.15583G>T c.15567G>T (p.Glu5189Asp) c.15489G>T (p.Glu5163Asp) c.12873G>T (p.Glu4291Asp) c.15591G>T (p.Glu5197Asp) c.15588G>T (p.Glu5196Asp) c.15510G>T (p.Glu5170Asp) c.15495G>T (p.Glu5165Asp) c.15411G>T (p.Glu5137Asp) c.*524G>T (n.*524G>T) c.8709G>T (p.Glu2903Asp) c.8688G>T (p.Glu2896Asp) n.15586G>T | |
5 | g.90810831A>C | CA360410079 | ADGRV1 | c.15571A>C (p.Lys5191Gln) c.4525A>C (p.Lys1509Gln) n.2838A>C c.265+134622A>C (n.265+134622A>C) c.1981A>C (p.Lys661Gln) c.2554A>C (p.Lys852Gln) n.15584A>C c.15568A>C (p.Lys5190Gln) c.15490A>C (p.Lys5164Gln) c.12874A>C (p.Lys4292Gln) c.15592A>C (p.Lys5198Gln) c.15589A>C (p.Lys5197Gln) c.15511A>C (p.Lys5171Gln) c.15496A>C (p.Lys5166Gln) c.15412A>C (p.Lys5138Gln) c.*525A>C (n.*525A>C) c.8710A>C (p.Lys2904Gln) c.8689A>C (p.Lys2897Gln) n.15587A>C | |
5 | g.90810831A>G | CA360410081 | ADGRV1 | c.15571A>G (p.Lys5191Glu) c.4525A>G (p.Lys1509Glu) n.2838A>G c.265+134622A>G (n.265+134622A>G) c.1981A>G (p.Lys661Glu) c.2554A>G (p.Lys852Glu) n.15584A>G c.15568A>G (p.Lys5190Glu) c.15490A>G (p.Lys5164Glu) c.12874A>G (p.Lys4292Glu) c.15592A>G (p.Lys5198Glu) c.15589A>G (p.Lys5197Glu) c.15511A>G (p.Lys5171Glu) c.15496A>G (p.Lys5166Glu) c.15412A>G (p.Lys5138Glu) c.*525A>G (n.*525A>G) c.8710A>G (p.Lys2904Glu) c.8689A>G (p.Lys2897Glu) n.15587A>G | |
5 | g.90810831A>T | CA360410078 | ADGRV1 | c.15571A>T (p.Lys5191Ter) c.4525A>T (p.Lys1509Ter) n.2838A>T c.265+134622A>T (n.265+134622A>T) c.1981A>T (p.Lys661Ter) c.2554A>T (p.Lys852Ter) n.15584A>T c.15568A>T (p.Lys5190Ter) c.15490A>T (p.Lys5164Ter) c.12874A>T (p.Lys4292Ter) c.15592A>T (p.Lys5198Ter) c.15589A>T (p.Lys5197Ter) c.15511A>T (p.Lys5171Ter) c.15496A>T (p.Lys5166Ter) c.15412A>T (p.Lys5138Ter) c.*525A>T (n.*525A>T) c.8710A>T (p.Lys2904Ter) c.8689A>T (p.Lys2897Ter) n.15587A>T | |
5 | g.90810832A>C | CA360410083 | ADGRV1 | c.15572A>C (p.Lys5191Thr) c.4526A>C (p.Lys1509Thr) n.2839A>C c.265+134623A>C (n.265+134623A>C) c.1982A>C (p.Lys661Thr) c.2555A>C (p.Lys852Thr) n.15585A>C c.15569A>C (p.Lys5190Thr) c.15491A>C (p.Lys5164Thr) c.12875A>C (p.Lys4292Thr) c.15593A>C (p.Lys5198Thr) c.15590A>C (p.Lys5197Thr) c.15512A>C (p.Lys5171Thr) c.15497A>C (p.Lys5166Thr) c.15413A>C (p.Lys5138Thr) c.*526A>C (n.*526A>C) c.8711A>C (p.Lys2904Thr) c.8690A>C (p.Lys2897Thr) n.15588A>C | |
5 | g.90810832A>G | CA360410085 | ADGRV1 | c.15572A>G (p.Lys5191Arg) c.4526A>G (p.Lys1509Arg) n.2839A>G c.265+134623A>G (n.265+134623A>G) c.1982A>G (p.Lys661Arg) c.2555A>G (p.Lys852Arg) n.15585A>G c.15569A>G (p.Lys5190Arg) c.15491A>G (p.Lys5164Arg) c.12875A>G (p.Lys4292Arg) c.15593A>G (p.Lys5198Arg) c.15590A>G (p.Lys5197Arg) c.15512A>G (p.Lys5171Arg) c.15497A>G (p.Lys5166Arg) c.15413A>G (p.Lys5138Arg) c.*526A>G (n.*526A>G) c.8711A>G (p.Lys2904Arg) c.8690A>G (p.Lys2897Arg) n.15588A>G | |
5 | g.90810832A>T | CA360410086 | ADGRV1 | c.15572A>T (p.Lys5191Ile) c.4526A>T (p.Lys1509Ile) n.2839A>T c.265+134623A>T (n.265+134623A>T) c.1982A>T (p.Lys661Ile) c.2555A>T (p.Lys852Ile) n.15585A>T c.15569A>T (p.Lys5190Ile) c.15491A>T (p.Lys5164Ile) c.12875A>T (p.Lys4292Ile) c.15593A>T (p.Lys5198Ile) c.15590A>T (p.Lys5197Ile) c.15512A>T (p.Lys5171Ile) c.15497A>T (p.Lys5166Ile) c.15413A>T (p.Lys5138Ile) c.*526A>T (n.*526A>T) c.8711A>T (p.Lys2904Ile) c.8690A>T (p.Lys2897Ile) n.15588A>T | |
5 | g.90810833A= | CA1562911543 | ADGRV1 | c.15573A= (p.Lys5191=) c.4527A= (p.Lys1509=) n.2840A= c.265+134624A= (n.265+134624A=) c.1983A= (p.Lys661=) c.2556A= (p.Lys852=) n.15586A= c.15570A= (p.Lys5190=) c.15492A= (p.Lys5164=) c.12876A= (p.Lys4292=) c.15594A= (p.Lys5198=) c.15591A= (p.Lys5197=) c.15513A= (p.Lys5171=) c.15498A= (p.Lys5166=) c.15414A= (p.Lys5138=) c.*527A= (n.*527A=) c.8712A= (p.Lys2904=) c.8691A= (p.Lys2897=) n.15589A= | |
5 | g.90810833A>C | CA360410088 | ADGRV1 | c.15573A>C (p.Lys5191Asn) c.4527A>C (p.Lys1509Asn) n.2840A>C c.265+134624A>C (n.265+134624A>C) c.1983A>C (p.Lys661Asn) c.2556A>C (p.Lys852Asn) n.15586A>C c.15570A>C (p.Lys5190Asn) c.15492A>C (p.Lys5164Asn) c.12876A>C (p.Lys4292Asn) c.15594A>C (p.Lys5198Asn) c.15591A>C (p.Lys5197Asn) c.15513A>C (p.Lys5171Asn) c.15498A>C (p.Lys5166Asn) c.15414A>C (p.Lys5138Asn) c.*527A>C (n.*527A>C) c.8712A>C (p.Lys2904Asn) c.8691A>C (p.Lys2897Asn) n.15589A>C | |
5 | g.90810833A>G | CA445467777 | ADGRV1 | c.15573A>G (p.Lys5191=) c.4527A>G (p.Lys1509=) n.2840A>G c.265+134624A>G (n.265+134624A>G) c.1983A>G (p.Lys661=) c.2556A>G (p.Lys852=) n.15586A>G c.15570A>G (p.Lys5190=) c.15492A>G (p.Lys5164=) c.12876A>G (p.Lys4292=) c.15594A>G (p.Lys5198=) c.15591A>G (p.Lys5197=) c.15513A>G (p.Lys5171=) c.15498A>G (p.Lys5166=) c.15414A>G (p.Lys5138=) c.*527A>G (n.*527A>G) c.8712A>G (p.Lys2904=) c.8691A>G (p.Lys2897=) n.15589A>G | dbSNP |
5 | g.90810833A>T | CA360410090 | ADGRV1 | c.15573A>T (p.Lys5191Asn) c.4527A>T (p.Lys1509Asn) n.2840A>T c.265+134624A>T (n.265+134624A>T) c.1983A>T (p.Lys661Asn) c.2556A>T (p.Lys852Asn) n.15586A>T c.15570A>T (p.Lys5190Asn) c.15492A>T (p.Lys5164Asn) c.12876A>T (p.Lys4292Asn) c.15594A>T (p.Lys5198Asn) c.15591A>T (p.Lys5197Asn) c.15513A>T (p.Lys5171Asn) c.15498A>T (p.Lys5166Asn) c.15414A>T (p.Lys5138Asn) c.*527A>T (n.*527A>T) c.8712A>T (p.Lys2904Asn) c.8691A>T (p.Lys2897Asn) n.15589A>T | |
5 | g.90810834C>A | CA360410095 | ADGRV1 | c.15574C>A (p.Leu5192Ile) c.4528C>A (p.Leu1510Ile) n.2841C>A c.265+134625C>A (n.265+134625C>A) c.1984C>A (p.Leu662Ile) c.2557C>A (p.Leu853Ile) n.15587C>A c.15571C>A (p.Leu5191Ile) c.15493C>A (p.Leu5165Ile) c.12877C>A (p.Leu4293Ile) c.15595C>A (p.Leu5199Ile) c.15592C>A (p.Leu5198Ile) c.15514C>A (p.Leu5172Ile) c.15499C>A (p.Leu5167Ile) c.15415C>A (p.Leu5139Ile) c.*528C>A (n.*528C>A) c.8713C>A (p.Leu2905Ile) c.8692C>A (p.Leu2898Ile) n.15590C>A | |
5 | g.90810834C>G | CA360410093 | ADGRV1 | c.15574C>G (p.Leu5192Val) c.4528C>G (p.Leu1510Val) n.2841C>G c.265+134625C>G (n.265+134625C>G) c.1984C>G (p.Leu662Val) c.2557C>G (p.Leu853Val) n.15587C>G c.15571C>G (p.Leu5191Val) c.15493C>G (p.Leu5165Val) c.12877C>G (p.Leu4293Val) c.15595C>G (p.Leu5199Val) c.15592C>G (p.Leu5198Val) c.15514C>G (p.Leu5172Val) c.15499C>G (p.Leu5167Val) c.15415C>G (p.Leu5139Val) c.*528C>G (n.*528C>G) c.8713C>G (p.Leu2905Val) c.8692C>G (p.Leu2898Val) n.15590C>G | |
5 | g.90810834C>T | CA360410092 | ADGRV1 | c.15574C>T (p.Leu5192Phe) c.4528C>T (p.Leu1510Phe) n.2841C>T c.265+134625C>T (n.265+134625C>T) c.1984C>T (p.Leu662Phe) c.2557C>T (p.Leu853Phe) n.15587C>T c.15571C>T (p.Leu5191Phe) c.15493C>T (p.Leu5165Phe) c.12877C>T (p.Leu4293Phe) c.15595C>T (p.Leu5199Phe) c.15592C>T (p.Leu5198Phe) c.15514C>T (p.Leu5172Phe) c.15499C>T (p.Leu5167Phe) c.15415C>T (p.Leu5139Phe) c.*528C>T (n.*528C>T) c.8713C>T (p.Leu2905Phe) c.8692C>T (p.Leu2898Phe) n.15590C>T | |
5 | g.90810835T>A | CA360410096 | ADGRV1 | c.15575T>A (p.Leu5192His) c.4529T>A (p.Leu1510His) n.2842T>A c.265+134626T>A (n.265+134626T>A) c.1985T>A (p.Leu662His) c.2558T>A (p.Leu853His) n.15588T>A c.15572T>A (p.Leu5191His) c.15494T>A (p.Leu5165His) c.12878T>A (p.Leu4293His) c.15596T>A (p.Leu5199His) c.15593T>A (p.Leu5198His) c.15515T>A (p.Leu5172His) c.15500T>A (p.Leu5167His) c.15416T>A (p.Leu5139His) c.8714T>A (p.Leu2905His) c.8693T>A (p.Leu2898His) n.15591T>A | |
5 | g.90810835T>C | CA360410097 | ADGRV1 | c.15575T>C (p.Leu5192Pro) c.4529T>C (p.Leu1510Pro) n.2842T>C c.265+134626T>C (n.265+134626T>C) c.1985T>C (p.Leu662Pro) c.2558T>C (p.Leu853Pro) n.15588T>C c.15572T>C (p.Leu5191Pro) c.15494T>C (p.Leu5165Pro) c.12878T>C (p.Leu4293Pro) c.15596T>C (p.Leu5199Pro) c.15593T>C (p.Leu5198Pro) c.15515T>C (p.Leu5172Pro) c.15500T>C (p.Leu5167Pro) c.15416T>C (p.Leu5139Pro) c.8714T>C (p.Leu2905Pro) c.8693T>C (p.Leu2898Pro) n.15591T>C | |
5 | g.90810835T>G | CA360410099 | ADGRV1 | c.15575T>G (p.Leu5192Arg) c.4529T>G (p.Leu1510Arg) n.2842T>G c.265+134626T>G (n.265+134626T>G) c.1985T>G (p.Leu662Arg) c.2558T>G (p.Leu853Arg) n.15588T>G c.15572T>G (p.Leu5191Arg) c.15494T>G (p.Leu5165Arg) c.12878T>G (p.Leu4293Arg) c.15596T>G (p.Leu5199Arg) c.15593T>G (p.Leu5198Arg) c.15515T>G (p.Leu5172Arg) c.15500T>G (p.Leu5167Arg) c.15416T>G (p.Leu5139Arg) c.8714T>G (p.Leu2905Arg) c.8693T>G (p.Leu2898Arg) n.15591T>G | |
5 | g.90810836T>A | CA445467780 | ADGRV1 | c.15576T>A (p.Leu5192=) c.4530T>A (p.Leu1510=) n.2843T>A c.265+134627T>A (n.265+134627T>A) c.1986T>A (p.Leu662=) c.2559T>A (p.Leu853=) n.15589T>A c.15573T>A (p.Leu5191=) c.15495T>A (p.Leu5165=) c.12879T>A (p.Leu4293=) c.15597T>A (p.Leu5199=) c.15594T>A (p.Leu5198=) c.15516T>A (p.Leu5172=) c.15501T>A (p.Leu5167=) c.15417T>A (p.Leu5139=) c.8715T>A (p.Leu2905=) c.8694T>A (p.Leu2898=) n.15592T>A | |
5 | g.90810836T>C | CA445467782 | ADGRV1 | c.15576T>C (p.Leu5192=) c.4530T>C (p.Leu1510=) n.2843T>C c.265+134627T>C (n.265+134627T>C) c.1986T>C (p.Leu662=) c.2559T>C (p.Leu853=) n.15589T>C c.15573T>C (p.Leu5191=) c.15495T>C (p.Leu5165=) c.12879T>C (p.Leu4293=) c.15597T>C (p.Leu5199=) c.15594T>C (p.Leu5198=) c.15516T>C (p.Leu5172=) c.15501T>C (p.Leu5167=) c.15417T>C (p.Leu5139=) c.8715T>C (p.Leu2905=) c.8694T>C (p.Leu2898=) n.15592T>C | gnomAD v4 |
5 | g.90810836T>G | CA445467781 | ADGRV1 | c.15576T>G (p.Leu5192=) c.4530T>G (p.Leu1510=) n.2843T>G c.265+134627T>G (n.265+134627T>G) c.1986T>G (p.Leu662=) c.2559T>G (p.Leu853=) n.15589T>G c.15573T>G (p.Leu5191=) c.15495T>G (p.Leu5165=) c.12879T>G (p.Leu4293=) c.15597T>G (p.Leu5199=) c.15594T>G (p.Leu5198=) c.15516T>G (p.Leu5172=) c.15501T>G (p.Leu5167=) c.15417T>G (p.Leu5139=) c.8715T>G (p.Leu2905=) c.8694T>G (p.Leu2898=) n.15592T>G | |
5 | g.90810837G>A | CA360410101 | ADGRV1 | c.15577G>A (p.Val5193Ile) c.4531G>A (p.Val1511Ile) n.2844G>A c.265+134628G>A (n.265+134628G>A) c.1987G>A (p.Val663Ile) c.2560G>A (p.Val854Ile) n.15590G>A c.15574G>A (p.Val5192Ile) c.15496G>A (p.Val5166Ile) c.12880G>A (p.Val4294Ile) c.15598G>A (p.Val5200Ile) c.15595G>A (p.Val5199Ile) c.15517G>A (p.Val5173Ile) c.15502G>A (p.Val5168Ile) c.15418G>A (p.Val5140Ile) c.8716G>A (p.Val2906Ile) c.8695G>A (p.Val2899Ile) n.15593G>A | |
5 | g.90810837G>C | CA360410102 | ADGRV1 | c.15577G>C (p.Val5193Leu) c.4531G>C (p.Val1511Leu) n.2844G>C c.265+134628G>C (n.265+134628G>C) c.1987G>C (p.Val663Leu) c.2560G>C (p.Val854Leu) n.15590G>C c.15574G>C (p.Val5192Leu) c.15496G>C (p.Val5166Leu) c.12880G>C (p.Val4294Leu) c.15598G>C (p.Val5200Leu) c.15595G>C (p.Val5199Leu) c.15517G>C (p.Val5173Leu) c.15502G>C (p.Val5168Leu) c.15418G>C (p.Val5140Leu) c.8716G>C (p.Val2906Leu) c.8695G>C (p.Val2899Leu) n.15593G>C | |
5 | g.90810837G>T | CA360410104 | ADGRV1 | c.15577G>T (p.Val5193Phe) c.4531G>T (p.Val1511Phe) n.2844G>T c.265+134628G>T (n.265+134628G>T) c.1987G>T (p.Val663Phe) c.2560G>T (p.Val854Phe) n.15590G>T c.15574G>T (p.Val5192Phe) c.15496G>T (p.Val5166Phe) c.12880G>T (p.Val4294Phe) c.15598G>T (p.Val5200Phe) c.15595G>T (p.Val5199Phe) c.15517G>T (p.Val5173Phe) c.15502G>T (p.Val5168Phe) c.15418G>T (p.Val5140Phe) c.8716G>T (p.Val2906Phe) c.8695G>T (p.Val2899Phe) n.15593G>T | |
5 | g.90810838T>A | CA360410105 | ADGRV1 | c.15578T>A (p.Val5193Asp) c.4532T>A (p.Val1511Asp) n.2845T>A c.265+134629T>A (n.265+134629T>A) c.1988T>A (p.Val663Asp) c.2561T>A (p.Val854Asp) n.15591T>A c.15575T>A (p.Val5192Asp) c.15497T>A (p.Val5166Asp) c.12881T>A (p.Val4294Asp) c.15599T>A (p.Val5200Asp) c.15596T>A (p.Val5199Asp) c.15518T>A (p.Val5173Asp) c.15503T>A (p.Val5168Asp) c.15419T>A (p.Val5140Asp) c.8717T>A (p.Val2906Asp) c.8696T>A (p.Val2899Asp) n.15594T>A | |
5 | g.90810838T>C | CA360410110 | ADGRV1 | c.15578T>C (p.Val5193Ala) c.4532T>C (p.Val1511Ala) n.2845T>C c.265+134629T>C (n.265+134629T>C) c.1988T>C (p.Val663Ala) c.2561T>C (p.Val854Ala) n.15591T>C c.15575T>C (p.Val5192Ala) c.15497T>C (p.Val5166Ala) c.12881T>C (p.Val4294Ala) c.15599T>C (p.Val5200Ala) c.15596T>C (p.Val5199Ala) c.15518T>C (p.Val5173Ala) c.15503T>C (p.Val5168Ala) c.15419T>C (p.Val5140Ala) c.8717T>C (p.Val2906Ala) c.8696T>C (p.Val2899Ala) n.15594T>C | |
5 | g.90810838T>G | CA360410108 | ADGRV1 | c.15578T>G (p.Val5193Gly) c.4532T>G (p.Val1511Gly) n.2845T>G c.265+134629T>G (n.265+134629T>G) c.1988T>G (p.Val663Gly) c.2561T>G (p.Val854Gly) n.15591T>G c.15575T>G (p.Val5192Gly) c.15497T>G (p.Val5166Gly) c.12881T>G (p.Val4294Gly) c.15599T>G (p.Val5200Gly) c.15596T>G (p.Val5199Gly) c.15518T>G (p.Val5173Gly) c.15503T>G (p.Val5168Gly) c.15419T>G (p.Val5140Gly) c.8717T>G (p.Val2906Gly) c.8696T>G (p.Val2899Gly) n.15594T>G | |
5 | g.90810839C>A | CA445467790 | ADGRV1 | c.15579C>A (p.Val5193=) c.4533C>A (p.Val1511=) n.2846C>A c.265+134630C>A (n.265+134630C>A) c.1989C>A (p.Val663=) c.2562C>A (p.Val854=) n.15592C>A c.15576C>A (p.Val5192=) c.15498C>A (p.Val5166=) c.12882C>A (p.Val4294=) c.15600C>A (p.Val5200=) c.15597C>A (p.Val5199=) c.15519C>A (p.Val5173=) c.15504C>A (p.Val5168=) c.15420C>A (p.Val5140=) c.8718C>A (p.Val2906=) c.8697C>A (p.Val2899=) n.15595C>A | |
5 | g.90810839C>G | CA445467791 | ADGRV1 | c.15579C>G (p.Val5193=) c.4533C>G (p.Val1511=) n.2846C>G c.265+134630C>G (n.265+134630C>G) c.1989C>G (p.Val663=) c.2562C>G (p.Val854=) n.15592C>G c.15576C>G (p.Val5192=) c.15498C>G (p.Val5166=) c.12882C>G (p.Val4294=) c.15600C>G (p.Val5200=) c.15597C>G (p.Val5199=) c.15519C>G (p.Val5173=) c.15504C>G (p.Val5168=) c.15420C>G (p.Val5140=) c.8718C>G (p.Val2906=) c.8697C>G (p.Val2899=) n.15595C>G | |
5 | g.90810839C>T | CA445467792 | ADGRV1 | c.15579C>T (p.Val5193=) c.4533C>T (p.Val1511=) n.2846C>T c.265+134630C>T (n.265+134630C>T) c.1989C>T (p.Val663=) c.2562C>T (p.Val854=) n.15592C>T c.15576C>T (p.Val5192=) c.15498C>T (p.Val5166=) c.12882C>T (p.Val4294=) c.15600C>T (p.Val5200=) c.15597C>T (p.Val5199=) c.15519C>T (p.Val5173=) c.15504C>T (p.Val5168=) c.15420C>T (p.Val5140=) c.8718C>T (p.Val2906=) c.8697C>T (p.Val2899=) n.15595C>T | |
5 | g.90810843_90810856del | CA2697546363 | ADGRV1 | c.15583_15596del (p.Leu5195CysfsTer4) c.4537_4550del (p.Leu1513CysfsTer4) n.2850_2863del c.265+134634_265+134647del (n.265+134634_265+134647del) c.1993_2006del (p.Leu665CysfsTer4) c.2566_2579del (p.Leu856CysfsTer4) n.15596_15609del c.15580_15593del (p.Leu5194CysfsTer4) c.15502_15515del (p.Leu5168CysfsTer4) c.12886_12899del (p.Leu4296CysfsTer4) c.15604_15617del (p.Leu5202CysfsTer4) c.15601_15614del (p.Leu5201CysfsTer4) c.15523_15536del (p.Leu5175CysfsTer4) c.15508_15521del (p.Leu5170CysfsTer4) c.15424_15437del (p.Leu5142CysfsTer4) c.8722_8735del (p.Leu2908CysfsTer4) c.8701_8714del (p.Leu2901CysfsTer4) n.15599_15612del | ClinVar |
5 | g.90810840A= | CA1562911544 | ADGRV1 | c.15580A= (p.Thr5194=) c.4534A= (p.Thr1512=) n.2847A= c.265+134631A= (n.265+134631A=) c.1990A= (p.Thr664=) c.2563A= (p.Thr855=) n.15593A= c.15577A= (p.Thr5193=) c.15499A= (p.Thr5167=) c.12883A= (p.Thr4295=) c.15601A= (p.Thr5201=) c.15598A= (p.Thr5200=) c.15520A= (p.Thr5174=) c.15505A= (p.Thr5169=) c.15421A= (p.Thr5141=) c.8719A= (p.Thr2907=) c.8698A= (p.Thr2900=) n.15596A= | |
5 | g.90810840A>C | CA360410111 | ADGRV1 | c.15580A>C (p.Thr5194Pro) c.4534A>C (p.Thr1512Pro) n.2847A>C c.265+134631A>C (n.265+134631A>C) c.1990A>C (p.Thr664Pro) c.2563A>C (p.Thr855Pro) n.15593A>C c.15577A>C (p.Thr5193Pro) c.15499A>C (p.Thr5167Pro) c.12883A>C (p.Thr4295Pro) c.15601A>C (p.Thr5201Pro) c.15598A>C (p.Thr5200Pro) c.15520A>C (p.Thr5174Pro) c.15505A>C (p.Thr5169Pro) c.15421A>C (p.Thr5141Pro) c.8719A>C (p.Thr2907Pro) c.8698A>C (p.Thr2900Pro) n.15596A>C | dbSNP |
5 | g.90810840A>G | CA360410113 | ADGRV1 | c.15580A>G (p.Thr5194Ala) c.4534A>G (p.Thr1512Ala) n.2847A>G c.265+134631A>G (n.265+134631A>G) c.1990A>G (p.Thr664Ala) c.2563A>G (p.Thr855Ala) n.15593A>G c.15577A>G (p.Thr5193Ala) c.15499A>G (p.Thr5167Ala) c.12883A>G (p.Thr4295Ala) c.15601A>G (p.Thr5201Ala) c.15598A>G (p.Thr5200Ala) c.15520A>G (p.Thr5174Ala) c.15505A>G (p.Thr5169Ala) c.15421A>G (p.Thr5141Ala) c.8719A>G (p.Thr2907Ala) c.8698A>G (p.Thr2900Ala) n.15596A>G | |
5 | g.90810840A>T | CA360410115 | ADGRV1 | c.15580A>T (p.Thr5194Ser) c.4534A>T (p.Thr1512Ser) n.2847A>T c.265+134631A>T (n.265+134631A>T) c.1990A>T (p.Thr664Ser) c.2563A>T (p.Thr855Ser) n.15593A>T c.15577A>T (p.Thr5193Ser) c.15499A>T (p.Thr5167Ser) c.12883A>T (p.Thr4295Ser) c.15601A>T (p.Thr5201Ser) c.15598A>T (p.Thr5200Ser) c.15520A>T (p.Thr5174Ser) c.15505A>T (p.Thr5169Ser) c.15421A>T (p.Thr5141Ser) c.8719A>T (p.Thr2907Ser) c.8698A>T (p.Thr2900Ser) n.15596A>T | |
5 | g.90810841C>A | CA360410117 | ADGRV1 | c.15581C>A (p.Thr5194Asn) c.4535C>A (p.Thr1512Asn) n.2848C>A c.265+134632C>A (n.265+134632C>A) c.1991C>A (p.Thr664Asn) c.2564C>A (p.Thr855Asn) n.15594C>A c.15578C>A (p.Thr5193Asn) c.15500C>A (p.Thr5167Asn) c.12884C>A (p.Thr4295Asn) c.15602C>A (p.Thr5201Asn) c.15599C>A (p.Thr5200Asn) c.15521C>A (p.Thr5174Asn) c.15506C>A (p.Thr5169Asn) c.15422C>A (p.Thr5141Asn) c.8720C>A (p.Thr2907Asn) c.8699C>A (p.Thr2900Asn) n.15597C>A | gnomAD v4 |
5 | g.90810841C= | CA1562911545 | ADGRV1 | c.15581C= (p.Thr5194=) c.4535C= (p.Thr1512=) n.2848C= c.265+134632C= (n.265+134632C=) c.1991C= (p.Thr664=) c.2564C= (p.Thr855=) n.15594C= c.15578C= (p.Thr5193=) c.15500C= (p.Thr5167=) c.12884C= (p.Thr4295=) c.15602C= (p.Thr5201=) c.15599C= (p.Thr5200=) c.15521C= (p.Thr5174=) c.15506C= (p.Thr5169=) c.15422C= (p.Thr5141=) c.8720C= (p.Thr2907=) c.8699C= (p.Thr2900=) n.15597C= | |
5 | g.90810841C>G | CA360410119 | ADGRV1 | c.15581C>G (p.Thr5194Ser) c.4535C>G (p.Thr1512Ser) n.2848C>G c.265+134632C>G (n.265+134632C>G) c.1991C>G (p.Thr664Ser) c.2564C>G (p.Thr855Ser) n.15594C>G c.15578C>G (p.Thr5193Ser) c.15500C>G (p.Thr5167Ser) c.12884C>G (p.Thr4295Ser) c.15602C>G (p.Thr5201Ser) c.15599C>G (p.Thr5200Ser) c.15521C>G (p.Thr5174Ser) c.15506C>G (p.Thr5169Ser) c.15422C>G (p.Thr5141Ser) c.8720C>G (p.Thr2907Ser) c.8699C>G (p.Thr2900Ser) n.15597C>G | |
5 | g.90810841C>T | CA3341946 | ADGRV1 | c.15581C>T (p.Thr5194Ile) c.4535C>T (p.Thr1512Ile) n.2848C>T c.265+134632C>T (n.265+134632C>T) c.1991C>T (p.Thr664Ile) c.2564C>T (p.Thr855Ile) n.15594C>T c.15578C>T (p.Thr5193Ile) c.15500C>T (p.Thr5167Ile) c.12884C>T (p.Thr4295Ile) c.15602C>T (p.Thr5201Ile) c.15599C>T (p.Thr5200Ile) c.15521C>T (p.Thr5174Ile) c.15506C>T (p.Thr5169Ile) c.15422C>T (p.Thr5141Ile) c.8720C>T (p.Thr2907Ile) c.8699C>T (p.Thr2900Ile) n.15597C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90810842C>A | CA445467801 | ADGRV1 | c.15582C>A (p.Thr5194=) c.4536C>A (p.Thr1512=) n.2849C>A c.265+134633C>A (n.265+134633C>A) c.1992C>A (p.Thr664=) c.2565C>A (p.Thr855=) n.15595C>A c.15579C>A (p.Thr5193=) c.15501C>A (p.Thr5167=) c.12885C>A (p.Thr4295=) c.15603C>A (p.Thr5201=) c.15600C>A (p.Thr5200=) c.15522C>A (p.Thr5174=) c.15507C>A (p.Thr5169=) c.15423C>A (p.Thr5141=) c.8721C>A (p.Thr2907=) c.8700C>A (p.Thr2900=) n.15598C>A | |
5 | g.90810842C>G | CA445467802 | ADGRV1 | c.15582C>G (p.Thr5194=) c.4536C>G (p.Thr1512=) n.2849C>G c.265+134633C>G (n.265+134633C>G) c.1992C>G (p.Thr664=) c.2565C>G (p.Thr855=) n.15595C>G c.15579C>G (p.Thr5193=) c.15501C>G (p.Thr5167=) c.12885C>G (p.Thr4295=) c.15603C>G (p.Thr5201=) c.15600C>G (p.Thr5200=) c.15522C>G (p.Thr5174=) c.15507C>G (p.Thr5169=) c.15423C>G (p.Thr5141=) c.8721C>G (p.Thr2907=) c.8700C>G (p.Thr2900=) n.15598C>G | |
5 | g.90810842C>T | CA445467803 | ADGRV1 | c.15582C>T (p.Thr5194=) c.4536C>T (p.Thr1512=) n.2849C>T c.265+134633C>T (n.265+134633C>T) c.1992C>T (p.Thr664=) c.2565C>T (p.Thr855=) n.15595C>T c.15579C>T (p.Thr5193=) c.15501C>T (p.Thr5167=) c.12885C>T (p.Thr4295=) c.15603C>T (p.Thr5201=) c.15600C>T (p.Thr5200=) c.15522C>T (p.Thr5174=) c.15507C>T (p.Thr5169=) c.15423C>T (p.Thr5141=) c.8721C>T (p.Thr2907=) c.8700C>T (p.Thr2900=) n.15598C>T | |
5 | g.90810843C>A | CA360410122 | ADGRV1 | c.15583C>A (p.Leu5195Ile) c.4537C>A (p.Leu1513Ile) n.2850C>A c.265+134634C>A (n.265+134634C>A) c.1993C>A (p.Leu665Ile) c.2566C>A (p.Leu856Ile) n.15596C>A c.15580C>A (p.Leu5194Ile) c.15502C>A (p.Leu5168Ile) c.12886C>A (p.Leu4296Ile) c.15604C>A (p.Leu5202Ile) c.15601C>A (p.Leu5201Ile) c.15523C>A (p.Leu5175Ile) c.15508C>A (p.Leu5170Ile) c.15424C>A (p.Leu5142Ile) c.8722C>A (p.Leu2908Ile) c.8701C>A (p.Leu2901Ile) n.15599C>A | |
5 | g.90810843C= | CA1562911546 | ADGRV1 | c.15583C= (p.Leu5195=) c.4537C= (p.Leu1513=) n.2850C= c.265+134634C= (n.265+134634C=) c.1993C= (p.Leu665=) c.2566C= (p.Leu856=) n.15596C= c.15580C= (p.Leu5194=) c.15502C= (p.Leu5168=) c.12886C= (p.Leu4296=) c.15604C= (p.Leu5202=) c.15601C= (p.Leu5201=) c.15523C= (p.Leu5175=) c.15508C= (p.Leu5170=) c.15424C= (p.Leu5142=) c.8722C= (p.Leu2908=) c.8701C= (p.Leu2901=) n.15599C= | |
5 | g.90810843C>G | CA360410124 | ADGRV1 | c.15583C>G (p.Leu5195Val) c.4537C>G (p.Leu1513Val) n.2850C>G c.265+134634C>G (n.265+134634C>G) c.1993C>G (p.Leu665Val) c.2566C>G (p.Leu856Val) n.15596C>G c.15580C>G (p.Leu5194Val) c.15502C>G (p.Leu5168Val) c.12886C>G (p.Leu4296Val) c.15604C>G (p.Leu5202Val) c.15601C>G (p.Leu5201Val) c.15523C>G (p.Leu5175Val) c.15508C>G (p.Leu5170Val) c.15424C>G (p.Leu5142Val) c.8722C>G (p.Leu2908Val) c.8701C>G (p.Leu2901Val) n.15599C>G | |
5 | g.90810843C>T | CA360410126 | ADGRV1 | c.15583C>T (p.Leu5195Phe) c.4537C>T (p.Leu1513Phe) n.2850C>T c.265+134634C>T (n.265+134634C>T) c.1993C>T (p.Leu665Phe) c.2566C>T (p.Leu856Phe) n.15596C>T c.15580C>T (p.Leu5194Phe) c.15502C>T (p.Leu5168Phe) c.12886C>T (p.Leu4296Phe) c.15604C>T (p.Leu5202Phe) c.15601C>T (p.Leu5201Phe) c.15523C>T (p.Leu5175Phe) c.15508C>T (p.Leu5170Phe) c.15424C>T (p.Leu5142Phe) c.8722C>T (p.Leu2908Phe) c.8701C>T (p.Leu2901Phe) n.15599C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |