Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43038583T>ACA364188988CUL7n.2770A>T
c.4550A>T (p.Gln1517Leu)
n.1097A>T
c.*1206A>T (n.*1206A>T)
n.5428A>T
c.*2847A>T (n.*2847A>T)
n.4982A>T
n.5127A>T
c.563A>T (p.Gln188Leu)
c.2421A>T
n.5389A>T
c.4646A>T (p.Gln1549Leu)
c.3042A>T
c.4802A>T (p.Gln1601Leu)
c.4706A>T (p.Gln1569Leu)
c.2411A>T (p.Gln804Leu)
c.4829A>T (p.Gln1610Leu)
c.4733A>T (p.Gln1578Leu)
c.4673A>T (p.Gln1558Leu)
c.4577A>T (p.Gln1526Leu)
c.4547A>T (p.Gln1516Leu)
6g.43038583T>CCA364188990CUL7n.2770A>G
c.4550A>G (p.Gln1517Arg)
n.1097A>G
c.*1206A>G (n.*1206A>G)
n.5428A>G
c.*2847A>G (n.*2847A>G)
n.4982A>G
n.5127A>G
c.563A>G (p.Gln188Arg)
c.2421A>G
n.5389A>G
c.4646A>G (p.Gln1549Arg)
c.3042A>G
c.4802A>G (p.Gln1601Arg)
c.4706A>G (p.Gln1569Arg)
c.2411A>G (p.Gln804Arg)
c.4829A>G (p.Gln1610Arg)
c.4733A>G (p.Gln1578Arg)
c.4673A>G (p.Gln1558Arg)
c.4577A>G (p.Gln1526Arg)
c.4547A>G (p.Gln1516Arg)
 gnomAD v4
6g.43038583T>GCA364188992CUL7n.2770A>C
c.4550A>C (p.Gln1517Pro)
n.1097A>C
c.*1206A>C (n.*1206A>C)
n.5428A>C
c.*2847A>C (n.*2847A>C)
n.4982A>C
n.5127A>C
c.563A>C (p.Gln188Pro)
c.2421A>C
n.5389A>C
c.4646A>C (p.Gln1549Pro)
c.3042A>C
c.4802A>C (p.Gln1601Pro)
c.4706A>C (p.Gln1569Pro)
c.2411A>C (p.Gln804Pro)
c.4829A>C (p.Gln1610Pro)
c.4733A>C (p.Gln1578Pro)
c.4673A>C (p.Gln1558Pro)
c.4577A>C (p.Gln1526Pro)
c.4547A>C (p.Gln1516Pro)
6g.43038584G>ACA364188995CUL7n.2769C>T
c.4549C>T (p.Gln1517Ter)
n.1096C>T
c.*1205C>T (n.*1205C>T)
n.5427C>T
c.*2846C>T (n.*2846C>T)
n.4981C>T
n.5126C>T
c.562C>T (p.Gln188Ter)
c.2420C>T
n.5388C>T
c.4645C>T (p.Gln1549Ter)
c.3041C>T
c.4801C>T (p.Gln1601Ter)
c.4705C>T (p.Gln1569Ter)
c.2410C>T (p.Gln804Ter)
c.4828C>T (p.Gln1610Ter)
c.4732C>T (p.Gln1578Ter)
c.4672C>T (p.Gln1558Ter)
c.4576C>T (p.Gln1526Ter)
c.4546C>T (p.Gln1516Ter)
 gnomAD v4
6g.43038584G>CCA364189010CUL7n.2769C>G
c.4549C>G (p.Gln1517Glu)
n.1096C>G
c.*1205C>G (n.*1205C>G)
n.5427C>G
c.*2846C>G (n.*2846C>G)
n.4981C>G
n.5126C>G
c.562C>G (p.Gln188Glu)
c.2420C>G
n.5388C>G
c.4645C>G (p.Gln1549Glu)
c.3041C>G
c.4801C>G (p.Gln1601Glu)
c.4705C>G (p.Gln1569Glu)
c.2410C>G (p.Gln804Glu)
c.4828C>G (p.Gln1610Glu)
c.4732C>G (p.Gln1578Glu)
c.4672C>G (p.Gln1558Glu)
c.4576C>G (p.Gln1526Glu)
c.4546C>G (p.Gln1516Glu)
6g.43038584G>TCA364189016CUL7n.2769C>A
c.4549C>A (p.Gln1517Lys)
n.1096C>A
c.*1205C>A (n.*1205C>A)
n.5427C>A
c.*2846C>A (n.*2846C>A)
n.4981C>A
n.5126C>A
c.562C>A (p.Gln188Lys)
c.2420C>A
n.5388C>A
c.4645C>A (p.Gln1549Lys)
c.3041C>A
c.4801C>A (p.Gln1601Lys)
c.4705C>A (p.Gln1569Lys)
c.2410C>A (p.Gln804Lys)
c.4828C>A (p.Gln1610Lys)
c.4732C>A (p.Gln1578Lys)
c.4672C>A (p.Gln1558Lys)
c.4576C>A (p.Gln1526Lys)
c.4546C>A (p.Gln1516Lys)
6g.43038585C>ACA364189034CUL7n.2768G>T
c.4548G>T (p.Glu1516Asp)
n.1095G>T
c.*1204G>T (n.*1204G>T)
n.5426G>T
c.*2845G>T (n.*2845G>T)
n.4980G>T
n.5125G>T
c.561G>T (p.Glu187Asp)
c.2419G>T
n.5387G>T
c.4644G>T (p.Glu1548Asp)
c.3040G>T
c.4800G>T (p.Glu1600Asp)
c.4704G>T (p.Glu1568Asp)
c.2409G>T (p.Glu803Asp)
c.4827G>T (p.Glu1609Asp)
c.4731G>T (p.Glu1577Asp)
c.4671G>T (p.Glu1557Asp)
c.4575G>T (p.Glu1525Asp)
c.4545G>T (p.Glu1515Asp)
6g.43038585C>GCA364189045CUL7n.2768G>C
c.4548G>C (p.Glu1516Asp)
n.1095G>C
c.*1204G>C (n.*1204G>C)
n.5426G>C
c.*2845G>C (n.*2845G>C)
n.4980G>C
n.5125G>C
c.561G>C (p.Glu187Asp)
c.2419G>C
n.5387G>C
c.4644G>C (p.Glu1548Asp)
c.3040G>C
c.4800G>C (p.Glu1600Asp)
c.4704G>C (p.Glu1568Asp)
c.2409G>C (p.Glu803Asp)
c.4827G>C (p.Glu1609Asp)
c.4731G>C (p.Glu1577Asp)
c.4671G>C (p.Glu1557Asp)
c.4575G>C (p.Glu1525Asp)
c.4545G>C (p.Glu1515Asp)
6g.43038585C>TCA450369031CUL7n.2768G>A
c.4548G>A (p.Glu1516=)
n.1095G>A
c.*1204G>A (n.*1204G>A)
n.5426G>A
c.*2845G>A (n.*2845G>A)
n.4980G>A
n.5125G>A
c.561G>A (p.Glu187=)
c.2419G>A
n.5387G>A
c.4644G>A (p.Glu1548=)
c.3040G>A
c.4800G>A (p.Glu1600=)
c.4704G>A (p.Glu1568=)
c.2409G>A (p.Glu803=)
c.4827G>A (p.Glu1609=)
c.4731G>A (p.Glu1577=)
c.4671G>A (p.Glu1557=)
c.4575G>A (p.Glu1525=)
c.4545G>A (p.Glu1515=)
6g.43038586T>ACA364189051CUL7n.2767A>T
c.4547A>T (p.Glu1516Val)
n.1094A>T
c.*1203A>T (n.*1203A>T)
n.5425A>T
c.*2844A>T (n.*2844A>T)
n.4979A>T
n.5124A>T
c.560A>T (p.Glu187Val)
c.2418A>T
n.5386A>T
c.4643A>T (p.Glu1548Val)
c.3039A>T
c.4799A>T (p.Glu1600Val)
c.4703A>T (p.Glu1568Val)
c.2408A>T (p.Glu803Val)
c.4826A>T (p.Glu1609Val)
c.4730A>T (p.Glu1577Val)
c.4670A>T (p.Glu1557Val)
c.4574A>T (p.Glu1525Val)
c.4544A>T (p.Glu1515Val)
6g.43038586T>CCA364189052CUL7n.2767A>G
c.4547A>G (p.Glu1516Gly)
n.1094A>G
c.*1203A>G (n.*1203A>G)
n.5425A>G
c.*2844A>G (n.*2844A>G)
n.4979A>G
n.5124A>G
c.560A>G (p.Glu187Gly)
c.2418A>G
n.5386A>G
c.4643A>G (p.Glu1548Gly)
c.3039A>G
c.4799A>G (p.Glu1600Gly)
c.4703A>G (p.Glu1568Gly)
c.2408A>G (p.Glu803Gly)
c.4826A>G (p.Glu1609Gly)
c.4730A>G (p.Glu1577Gly)
c.4670A>G (p.Glu1557Gly)
c.4574A>G (p.Glu1525Gly)
c.4544A>G (p.Glu1515Gly)
6g.43038586T>GCA364189053CUL7n.2767A>C
c.4547A>C (p.Glu1516Ala)
n.1094A>C
c.*1203A>C (n.*1203A>C)
n.5425A>C
c.*2844A>C (n.*2844A>C)
n.4979A>C
n.5124A>C
c.560A>C (p.Glu187Ala)
c.2418A>C
n.5386A>C
c.4643A>C (p.Glu1548Ala)
c.3039A>C
c.4799A>C (p.Glu1600Ala)
c.4703A>C (p.Glu1568Ala)
c.2408A>C (p.Glu803Ala)
c.4826A>C (p.Glu1609Ala)
c.4730A>C (p.Glu1577Ala)
c.4670A>C (p.Glu1557Ala)
c.4574A>C (p.Glu1525Ala)
c.4544A>C (p.Glu1515Ala)
6g.43038587C>ACA364189054CUL7n.2766G>T
c.4546G>T (p.Glu1516Ter)
n.1093G>T
c.*1202G>T (n.*1202G>T)
n.5424G>T
c.*2843G>T (n.*2843G>T)
n.4978G>T
n.5123G>T
c.559G>T (p.Glu187Ter)
c.2417G>T
n.5385G>T
c.4642G>T (p.Glu1548Ter)
c.3038G>T
c.4798G>T (p.Glu1600Ter)
c.4702G>T (p.Glu1568Ter)
c.2407G>T (p.Glu803Ter)
c.4825G>T (p.Glu1609Ter)
c.4729G>T (p.Glu1577Ter)
c.4669G>T (p.Glu1557Ter)
c.4573G>T (p.Glu1525Ter)
c.4543G>T (p.Glu1515Ter)
6g.43038587C=CA1624352791CUL7n.2766G=
c.4546G= (p.Glu1516=)
n.1093G=
c.*1202G= (n.*1202G=)
n.5424G=
c.*2843G= (n.*2843G=)
n.4978G=
n.5123G=
c.559G= (p.Glu187=)
c.2417G=
n.5385G=
c.4642G= (p.Glu1548=)
c.3038G=
c.4798G= (p.Glu1600=)
c.4702G= (p.Glu1568=)
c.2407G= (p.Glu803=)
c.4825G= (p.Glu1609=)
c.4729G= (p.Glu1577=)
c.4669G= (p.Glu1557=)
c.4573G= (p.Glu1525=)
c.4543G= (p.Glu1515=)
6g.43038587C>GCA364189061CUL7n.2766G>C
c.4546G>C (p.Glu1516Gln)
n.1093G>C
c.*1202G>C (n.*1202G>C)
n.5424G>C
c.*2843G>C (n.*2843G>C)
n.4978G>C
n.5123G>C
c.559G>C (p.Glu187Gln)
c.2417G>C
n.5385G>C
c.4642G>C (p.Glu1548Gln)
c.3038G>C
c.4798G>C (p.Glu1600Gln)
c.4702G>C (p.Glu1568Gln)
c.2407G>C (p.Glu803Gln)
c.4825G>C (p.Glu1609Gln)
c.4729G>C (p.Glu1577Gln)
c.4669G>C (p.Glu1557Gln)
c.4573G>C (p.Glu1525Gln)
c.4543G>C (p.Glu1515Gln)
6g.43038587C>TCA3813179CUL7n.2766G>A
c.4546G>A (p.Glu1516Lys)
n.1093G>A
c.*1202G>A (n.*1202G>A)
n.5424G>A
c.*2843G>A (n.*2843G>A)
n.4978G>A
n.5123G>A
c.559G>A (p.Glu187Lys)
c.2417G>A
n.5385G>A
c.4642G>A (p.Glu1548Lys)
c.3038G>A
c.4798G>A (p.Glu1600Lys)
c.4702G>A (p.Glu1568Lys)
c.2407G>A (p.Glu803Lys)
c.4825G>A (p.Glu1609Lys)
c.4729G>A (p.Glu1577Lys)
c.4669G>A (p.Glu1557Lys)
c.4573G>A (p.Glu1525Lys)
c.4543G>A (p.Glu1515Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038588G>ACA3813180CUL7n.2765C>T
c.4545C>T (p.His1515=)
n.1092C>T
c.*1201C>T (n.*1201C>T)
n.5423C>T
c.*2842C>T (n.*2842C>T)
n.4977C>T
n.5122C>T
c.558C>T (p.His186=)
c.2416C>T
n.5384C>T
c.4641C>T (p.His1547=)
c.3037C>T
c.4797C>T (p.His1599=)
c.4701C>T (p.His1567=)
c.2406C>T (p.His802=)
c.4824C>T (p.His1608=)
c.4728C>T (p.His1576=)
c.4668C>T (p.His1556=)
c.4572C>T (p.His1524=)
c.4542C>T (p.His1514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038588G>CCA364189103CUL7n.2765C>G
c.4545C>G (p.His1515Gln)
n.1092C>G
c.*1201C>G (n.*1201C>G)
n.5423C>G
c.*2842C>G (n.*2842C>G)
n.4977C>G
n.5122C>G
c.558C>G (p.His186Gln)
c.2416C>G
n.5384C>G
c.4641C>G (p.His1547Gln)
c.3037C>G
c.4797C>G (p.His1599Gln)
c.4701C>G (p.His1567Gln)
c.2406C>G (p.His802Gln)
c.4824C>G (p.His1608Gln)
c.4728C>G (p.His1576Gln)
c.4668C>G (p.His1556Gln)
c.4572C>G (p.His1524Gln)
c.4542C>G (p.His1514Gln)
6g.43038588G=CA1624352792CUL7n.2765C=
c.4545C= (p.His1515=)
n.1092C=
c.*1201C= (n.*1201C=)
n.5423C=
c.*2842C= (n.*2842C=)
n.4977C=
n.5122C=
c.558C= (p.His186=)
c.2416C=
n.5384C=
c.4641C= (p.His1547=)
c.3037C=
c.4797C= (p.His1599=)
c.4701C= (p.His1567=)
c.2406C= (p.His802=)
c.4824C= (p.His1608=)
c.4728C= (p.His1576=)
c.4668C= (p.His1556=)
c.4572C= (p.His1524=)
c.4542C= (p.His1514=)
6g.43038588G>TCA364189106CUL7n.2765C>A
c.4545C>A (p.His1515Gln)
n.1092C>A
c.*1201C>A (n.*1201C>A)
n.5423C>A
c.*2842C>A (n.*2842C>A)
n.4977C>A
n.5122C>A
c.558C>A (p.His186Gln)
c.2416C>A
n.5384C>A
c.4641C>A (p.His1547Gln)
c.3037C>A
c.4797C>A (p.His1599Gln)
c.4701C>A (p.His1567Gln)
c.2406C>A (p.His802Gln)
c.4824C>A (p.His1608Gln)
c.4728C>A (p.His1576Gln)
c.4668C>A (p.His1556Gln)
c.4572C>A (p.His1524Gln)
c.4542C>A (p.His1514Gln)
6g.43038589T>ACA364189110CUL7n.2764A>T
c.4544A>T (p.His1515Leu)
n.1091A>T
c.*1200A>T (n.*1200A>T)
n.5422A>T
c.*2841A>T (n.*2841A>T)
n.4976A>T
n.5121A>T
c.557A>T (p.His186Leu)
c.2415A>T
n.5383A>T
c.4640A>T (p.His1547Leu)
c.3036A>T
c.4796A>T (p.His1599Leu)
c.4700A>T (p.His1567Leu)
c.2405A>T (p.His802Leu)
c.4823A>T (p.His1608Leu)
c.4727A>T (p.His1576Leu)
c.4667A>T (p.His1556Leu)
c.4571A>T (p.His1524Leu)
c.4541A>T (p.His1514Leu)
6g.43038589T>CCA364189111CUL7n.2764A>G
c.4544A>G (p.His1515Arg)
n.1091A>G
c.*1200A>G (n.*1200A>G)
n.5422A>G
c.*2841A>G (n.*2841A>G)
n.4976A>G
n.5121A>G
c.557A>G (p.His186Arg)
c.2415A>G
n.5383A>G
c.4640A>G (p.His1547Arg)
c.3036A>G
c.4796A>G (p.His1599Arg)
c.4700A>G (p.His1567Arg)
c.2405A>G (p.His802Arg)
c.4823A>G (p.His1608Arg)
c.4727A>G (p.His1576Arg)
c.4667A>G (p.His1556Arg)
c.4571A>G (p.His1524Arg)
c.4541A>G (p.His1514Arg)
6g.43038589T>GCA364189119CUL7n.2764A>C
c.4544A>C (p.His1515Pro)
n.1091A>C
c.*1200A>C (n.*1200A>C)
n.5422A>C
c.*2841A>C (n.*2841A>C)
n.4976A>C
n.5121A>C
c.557A>C (p.His186Pro)
c.2415A>C
n.5383A>C
c.4640A>C (p.His1547Pro)
c.3036A>C
c.4796A>C (p.His1599Pro)
c.4700A>C (p.His1567Pro)
c.2405A>C (p.His802Pro)
c.4823A>C (p.His1608Pro)
c.4727A>C (p.His1576Pro)
c.4667A>C (p.His1556Pro)
c.4571A>C (p.His1524Pro)
c.4541A>C (p.His1514Pro)
6g.43038590G>ACA364189134CUL7n.2763C>T
c.4543C>T (p.His1515Tyr)
n.1090C>T
c.*1199C>T (n.*1199C>T)
n.5421C>T
c.*2840C>T (n.*2840C>T)
n.4975C>T
n.5120C>T
c.556C>T (p.His186Tyr)
c.2414C>T
n.5382C>T
c.4639C>T (p.His1547Tyr)
c.3035C>T
c.4795C>T (p.His1599Tyr)
c.4699C>T (p.His1567Tyr)
c.2404C>T (p.His802Tyr)
c.4822C>T (p.His1608Tyr)
c.4726C>T (p.His1576Tyr)
c.4666C>T (p.His1556Tyr)
c.4570C>T (p.His1524Tyr)
c.4540C>T (p.His1514Tyr)
6g.43038590G>CCA364189132CUL7n.2763C>G
c.4543C>G (p.His1515Asp)
n.1090C>G
c.*1199C>G (n.*1199C>G)
n.5421C>G
c.*2840C>G (n.*2840C>G)
n.4975C>G
n.5120C>G
c.556C>G (p.His186Asp)
c.2414C>G
n.5382C>G
c.4639C>G (p.His1547Asp)
c.3035C>G
c.4795C>G (p.His1599Asp)
c.4699C>G (p.His1567Asp)
c.2404C>G (p.His802Asp)
c.4822C>G (p.His1608Asp)
c.4726C>G (p.His1576Asp)
c.4666C>G (p.His1556Asp)
c.4570C>G (p.His1524Asp)
c.4540C>G (p.His1514Asp)
6g.43038590G>TCA364189131CUL7n.2763C>A
c.4543C>A (p.His1515Asn)
n.1090C>A
c.*1199C>A (n.*1199C>A)
n.5421C>A
c.*2840C>A (n.*2840C>A)
n.4975C>A
n.5120C>A
c.556C>A (p.His186Asn)
c.2414C>A
n.5382C>A
c.4639C>A (p.His1547Asn)
c.3035C>A
c.4795C>A (p.His1599Asn)
c.4699C>A (p.His1567Asn)
c.2404C>A (p.His802Asn)
c.4822C>A (p.His1608Asn)
c.4726C>A (p.His1576Asn)
c.4666C>A (p.His1556Asn)
c.4570C>A (p.His1524Asn)
c.4540C>A (p.His1514Asn)
6g.43038591A=CA1624352793CUL7n.2762T=
c.4542T= (p.Leu1514=)
n.1089T=
c.*1198T= (n.*1198T=)
n.5420T=
c.*2839T= (n.*2839T=)
n.4974T=
n.5119T=
c.555T= (p.Leu185=)
c.2413T=
n.5381T=
c.4638T= (p.Leu1546=)
c.3034T=
c.4794T= (p.Leu1598=)
c.4698T= (p.Leu1566=)
c.2403T= (p.Leu801=)
c.4821T= (p.Leu1607=)
c.4725T= (p.Leu1575=)
c.4665T= (p.Leu1555=)
c.4569T= (p.Leu1523=)
c.4539T= (p.Leu1513=)
6g.43038591A>CCA450369042CUL7n.2762T>G
c.4542T>G (p.Leu1514=)
n.1089T>G
c.*1198T>G (n.*1198T>G)
n.5420T>G
c.*2839T>G (n.*2839T>G)
n.4974T>G
n.5119T>G
c.555T>G (p.Leu185=)
c.2413T>G
n.5381T>G
c.4638T>G (p.Leu1546=)
c.3034T>G
c.4794T>G (p.Leu1598=)
c.4698T>G (p.Leu1566=)
c.2403T>G (p.Leu801=)
c.4821T>G (p.Leu1607=)
c.4725T>G (p.Leu1575=)
c.4665T>G (p.Leu1555=)
c.4569T>G (p.Leu1523=)
c.4539T>G (p.Leu1513=)
6g.43038591A>GCA3813181CUL7n.2762T>C
c.4542T>C (p.Leu1514=)
n.1089T>C
c.*1198T>C (n.*1198T>C)
n.5420T>C
c.*2839T>C (n.*2839T>C)
n.4974T>C
n.5119T>C
c.555T>C (p.Leu185=)
c.2413T>C
n.5381T>C
c.4638T>C (p.Leu1546=)
c.3034T>C
c.4794T>C (p.Leu1598=)
c.4698T>C (p.Leu1566=)
c.2403T>C (p.Leu801=)
c.4821T>C (p.Leu1607=)
c.4725T>C (p.Leu1575=)
c.4665T>C (p.Leu1555=)
c.4569T>C (p.Leu1523=)
c.4539T>C (p.Leu1513=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038591A>TCA450369041CUL7n.2762T>A
c.4542T>A (p.Leu1514=)
n.1089T>A
c.*1198T>A (n.*1198T>A)
n.5420T>A
c.*2839T>A (n.*2839T>A)
n.4974T>A
n.5119T>A
c.555T>A (p.Leu185=)
c.2413T>A
n.5381T>A
c.4638T>A (p.Leu1546=)
c.3034T>A
c.4794T>A (p.Leu1598=)
c.4698T>A (p.Leu1566=)
c.2403T>A (p.Leu801=)
c.4821T>A (p.Leu1607=)
c.4725T>A (p.Leu1575=)
c.4665T>A (p.Leu1555=)
c.4569T>A (p.Leu1523=)
c.4539T>A (p.Leu1513=)
6g.43038592A>CCA364189154CUL7n.2761T>G
c.4541T>G (p.Leu1514Arg)
n.1088T>G
c.*1197T>G (n.*1197T>G)
n.5419T>G
c.*2838T>G (n.*2838T>G)
n.4973T>G
n.5118T>G
c.554T>G (p.Leu185Arg)
c.2412T>G
n.5380T>G
c.4637T>G (p.Leu1546Arg)
c.3033T>G
c.4793T>G (p.Leu1598Arg)
c.4697T>G (p.Leu1566Arg)
c.2402T>G (p.Leu801Arg)
c.4820T>G (p.Leu1607Arg)
c.4724T>G (p.Leu1575Arg)
c.4664T>G (p.Leu1555Arg)
c.4568T>G (p.Leu1523Arg)
c.4538T>G (p.Leu1513Arg)
6g.43038592A>GCA364189156CUL7n.2761T>C
c.4541T>C (p.Leu1514Pro)
n.1088T>C
c.*1197T>C (n.*1197T>C)
n.5419T>C
c.*2838T>C (n.*2838T>C)
n.4973T>C
n.5118T>C
c.554T>C (p.Leu185Pro)
c.2412T>C
n.5380T>C
c.4637T>C (p.Leu1546Pro)
c.3033T>C
c.4793T>C (p.Leu1598Pro)
c.4697T>C (p.Leu1566Pro)
c.2402T>C (p.Leu801Pro)
c.4820T>C (p.Leu1607Pro)
c.4724T>C (p.Leu1575Pro)
c.4664T>C (p.Leu1555Pro)
c.4568T>C (p.Leu1523Pro)
c.4538T>C (p.Leu1513Pro)
6g.43038592A>TCA364189166CUL7n.2761T>A
c.4541T>A (p.Leu1514His)
n.1088T>A
c.*1197T>A (n.*1197T>A)
n.5419T>A
c.*2838T>A (n.*2838T>A)
n.4973T>A
n.5118T>A
c.554T>A (p.Leu185His)
c.2412T>A
n.5380T>A
c.4637T>A (p.Leu1546His)
c.3033T>A
c.4793T>A (p.Leu1598His)
c.4697T>A (p.Leu1566His)
c.2402T>A (p.Leu801His)
c.4820T>A (p.Leu1607His)
c.4724T>A (p.Leu1575His)
c.4664T>A (p.Leu1555His)
c.4568T>A (p.Leu1523His)
c.4538T>A (p.Leu1513His)
 gnomAD v4
6g.43038593G>ACA3813182CUL7n.2760C>T
c.4540C>T (p.Leu1514Phe)
n.1087C>T
c.*1196C>T (n.*1196C>T)
n.5418C>T
c.*2837C>T (n.*2837C>T)
n.4972C>T
n.5117C>T
c.553C>T (p.Leu185Phe)
c.2411C>T
n.5379C>T
c.4636C>T (p.Leu1546Phe)
c.3032C>T
c.4792C>T (p.Leu1598Phe)
c.4696C>T (p.Leu1566Phe)
c.2401C>T (p.Leu801Phe)
c.4819C>T (p.Leu1607Phe)
c.4723C>T (p.Leu1575Phe)
c.4663C>T (p.Leu1555Phe)
c.4567C>T (p.Leu1523Phe)
c.4537C>T (p.Leu1513Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43038593G>CCA364189167CUL7n.2760C>G
c.4540C>G (p.Leu1514Val)
n.1087C>G
c.*1196C>G (n.*1196C>G)
n.5418C>G
c.*2837C>G (n.*2837C>G)
n.4972C>G
n.5117C>G
c.553C>G (p.Leu185Val)
c.2411C>G
n.5379C>G
c.4636C>G (p.Leu1546Val)
c.3032C>G
c.4792C>G (p.Leu1598Val)
c.4696C>G (p.Leu1566Val)
c.2401C>G (p.Leu801Val)
c.4819C>G (p.Leu1607Val)
c.4723C>G (p.Leu1575Val)
c.4663C>G (p.Leu1555Val)
c.4567C>G (p.Leu1523Val)
c.4537C>G (p.Leu1513Val)
6g.43038593G=CA1624352794CUL7n.2760C=
c.4540C= (p.Leu1514=)
n.1087C=
c.*1196C= (n.*1196C=)
n.5418C=
c.*2837C= (n.*2837C=)
n.4972C=
n.5117C=
c.553C= (p.Leu185=)
c.2411C=
n.5379C=
c.4636C= (p.Leu1546=)
c.3032C=
c.4792C= (p.Leu1598=)
c.4696C= (p.Leu1566=)
c.2401C= (p.Leu801=)
c.4819C= (p.Leu1607=)
c.4723C= (p.Leu1575=)
c.4663C= (p.Leu1555=)
c.4567C= (p.Leu1523=)
c.4537C= (p.Leu1513=)
6g.43038593G>TCA364189168CUL7n.2760C>A
c.4540C>A (p.Leu1514Ile)
n.1087C>A
c.*1196C>A (n.*1196C>A)
n.5418C>A
c.*2837C>A (n.*2837C>A)
n.4972C>A
n.5117C>A
c.553C>A (p.Leu185Ile)
c.2411C>A
n.5379C>A
c.4636C>A (p.Leu1546Ile)
c.3032C>A
c.4792C>A (p.Leu1598Ile)
c.4696C>A (p.Leu1566Ile)
c.2401C>A (p.Leu801Ile)
c.4819C>A (p.Leu1607Ile)
c.4723C>A (p.Leu1575Ile)
c.4663C>A (p.Leu1555Ile)
c.4567C>A (p.Leu1523Ile)
c.4537C>A (p.Leu1513Ile)
 gnomAD v4
6g.43038594G>ACA450369046CUL7n.2759C>T
c.4539C>T (p.Asp1513=)
n.1086C>T
c.*1195C>T (n.*1195C>T)
n.5417C>T
c.*2836C>T (n.*2836C>T)
n.4971C>T
n.5116C>T
c.552C>T (p.Asp184=)
c.2410C>T
n.5378C>T
c.4635C>T (p.Asp1545=)
c.3031C>T
c.4791C>T (p.Asp1597=)
c.4695C>T (p.Asp1565=)
c.2400C>T (p.Asp800=)
c.4818C>T (p.Asp1606=)
c.4722C>T (p.Asp1574=)
c.4662C>T (p.Asp1554=)
c.4566C>T (p.Asp1522=)
c.4536C>T (p.Asp1512=)
6g.43038594G>CCA364189182CUL7n.2759C>G
c.4539C>G (p.Asp1513Glu)
n.1086C>G
c.*1195C>G (n.*1195C>G)
n.5417C>G
c.*2836C>G (n.*2836C>G)
n.4971C>G
n.5116C>G
c.552C>G (p.Asp184Glu)
c.2410C>G
n.5378C>G
c.4635C>G (p.Asp1545Glu)
c.3031C>G
c.4791C>G (p.Asp1597Glu)
c.4695C>G (p.Asp1565Glu)
c.2400C>G (p.Asp800Glu)
c.4818C>G (p.Asp1606Glu)
c.4722C>G (p.Asp1574Glu)
c.4662C>G (p.Asp1554Glu)
c.4566C>G (p.Asp1522Glu)
c.4536C>G (p.Asp1512Glu)
6g.43038594G>TCA364189198CUL7n.2759C>A
c.4539C>A (p.Asp1513Glu)
n.1086C>A
c.*1195C>A (n.*1195C>A)
n.5417C>A
c.*2836C>A (n.*2836C>A)
n.4971C>A
n.5116C>A
c.552C>A (p.Asp184Glu)
c.2410C>A
n.5378C>A
c.4635C>A (p.Asp1545Glu)
c.3031C>A
c.4791C>A (p.Asp1597Glu)
c.4695C>A (p.Asp1565Glu)
c.2400C>A (p.Asp800Glu)
c.4818C>A (p.Asp1606Glu)
c.4722C>A (p.Asp1574Glu)
c.4662C>A (p.Asp1554Glu)
c.4566C>A (p.Asp1522Glu)
c.4536C>A (p.Asp1512Glu)
6g.43038595T>ACA364189201CUL7n.2758A>T
c.4538A>T (p.Asp1513Val)
n.1085A>T
c.*1194A>T (n.*1194A>T)
n.5416A>T
c.*2835A>T (n.*2835A>T)
n.4970A>T
n.5115A>T
c.551A>T (p.Asp184Val)
c.2409A>T
n.5377A>T
c.4634A>T (p.Asp1545Val)
c.3030A>T
c.4790A>T (p.Asp1597Val)
c.4694A>T (p.Asp1565Val)
c.2399A>T (p.Asp800Val)
c.4817A>T (p.Asp1606Val)
c.4721A>T (p.Asp1574Val)
c.4661A>T (p.Asp1554Val)
c.4565A>T (p.Asp1522Val)
c.4535A>T (p.Asp1512Val)
6g.43038595T>CCA364189202CUL7n.2758A>G
c.4538A>G (p.Asp1513Gly)
n.1085A>G
c.*1194A>G (n.*1194A>G)
n.5416A>G
c.*2835A>G (n.*2835A>G)
n.4970A>G
n.5115A>G
c.551A>G (p.Asp184Gly)
c.2409A>G
n.5377A>G
c.4634A>G (p.Asp1545Gly)
c.3030A>G
c.4790A>G (p.Asp1597Gly)
c.4694A>G (p.Asp1565Gly)
c.2399A>G (p.Asp800Gly)
c.4817A>G (p.Asp1606Gly)
c.4721A>G (p.Asp1574Gly)
c.4661A>G (p.Asp1554Gly)
c.4565A>G (p.Asp1522Gly)
c.4535A>G (p.Asp1512Gly)
6g.43038595T>GCA364189206CUL7n.2758A>C
c.4538A>C (p.Asp1513Ala)
n.1085A>C
c.*1194A>C (n.*1194A>C)
n.5416A>C
c.*2835A>C (n.*2835A>C)
n.4970A>C
n.5115A>C
c.551A>C (p.Asp184Ala)
c.2409A>C
n.5377A>C
c.4634A>C (p.Asp1545Ala)
c.3030A>C
c.4790A>C (p.Asp1597Ala)
c.4694A>C (p.Asp1565Ala)
c.2399A>C (p.Asp800Ala)
c.4817A>C (p.Asp1606Ala)
c.4721A>C (p.Asp1574Ala)
c.4661A>C (p.Asp1554Ala)
c.4565A>C (p.Asp1522Ala)
c.4535A>C (p.Asp1512Ala)
6g.43038596C>ACA364189231CUL7n.2757G>T
c.4537G>T (p.Asp1513Tyr)
n.1084G>T
c.*1193G>T (n.*1193G>T)
n.5415G>T
c.*2834G>T (n.*2834G>T)
n.4969G>T
n.5114G>T
c.550G>T (p.Asp184Tyr)
c.2408G>T
n.5376G>T
c.4633G>T (p.Asp1545Tyr)
c.3029G>T
c.4789G>T (p.Asp1597Tyr)
c.4693G>T (p.Asp1565Tyr)
c.2398G>T (p.Asp800Tyr)
c.4816G>T (p.Asp1606Tyr)
c.4720G>T (p.Asp1574Tyr)
c.4660G>T (p.Asp1554Tyr)
c.4564G>T (p.Asp1522Tyr)
c.4534G>T (p.Asp1512Tyr)
6g.43038596C>GCA364189211CUL7n.2757G>C
c.4537G>C (p.Asp1513His)
n.1084G>C
c.*1193G>C (n.*1193G>C)
n.5415G>C
c.*2834G>C (n.*2834G>C)
n.4969G>C
n.5114G>C
c.550G>C (p.Asp184His)
c.2408G>C
n.5376G>C
c.4633G>C (p.Asp1545His)
c.3029G>C
c.4789G>C (p.Asp1597His)
c.4693G>C (p.Asp1565His)
c.2398G>C (p.Asp800His)
c.4816G>C (p.Asp1606His)
c.4720G>C (p.Asp1574His)
c.4660G>C (p.Asp1554His)
c.4564G>C (p.Asp1522His)
c.4534G>C (p.Asp1512His)
6g.43038596C>TCA364189209CUL7n.2757G>A
c.4537G>A (p.Asp1513Asn)
n.1084G>A
c.*1193G>A (n.*1193G>A)
n.5415G>A
c.*2834G>A (n.*2834G>A)
n.4969G>A
n.5114G>A
c.550G>A (p.Asp184Asn)
c.2408G>A
n.5376G>A
c.4633G>A (p.Asp1545Asn)
c.3029G>A
c.4789G>A (p.Asp1597Asn)
c.4693G>A (p.Asp1565Asn)
c.2398G>A (p.Asp800Asn)
c.4816G>A (p.Asp1606Asn)
c.4720G>A (p.Asp1574Asn)
c.4660G>A (p.Asp1554Asn)
c.4564G>A (p.Asp1522Asn)
c.4534G>A (p.Asp1512Asn)
6g.43038597C>ACA450369049CUL7n.2756G>T
c.4536G>T (p.Leu1512=)
n.1083G>T
c.*1192G>T (n.*1192G>T)
n.5414G>T
c.*2833G>T (n.*2833G>T)
n.4968G>T
n.5113G>T
c.549G>T (p.Leu183=)
c.2407G>T
n.5375G>T
c.4632G>T (p.Leu1544=)
c.3028G>T
c.4788G>T (p.Leu1596=)
c.4692G>T (p.Leu1564=)
c.2397G>T (p.Leu799=)
c.4815G>T (p.Leu1605=)
c.4719G>T (p.Leu1573=)
c.4659G>T (p.Leu1553=)
c.4563G>T (p.Leu1521=)
c.4533G>T (p.Leu1511=)
6g.43038597C=CA1624352795CUL7n.2756G=
c.4536G= (p.Leu1512=)
n.1083G=
c.*1192G= (n.*1192G=)
n.5414G=
c.*2833G= (n.*2833G=)
n.4968G=
n.5113G=
c.549G= (p.Leu183=)
c.2407G=
n.5375G=
c.4632G= (p.Leu1544=)
c.3028G=
c.4788G= (p.Leu1596=)
c.4692G= (p.Leu1564=)
c.2397G= (p.Leu799=)
c.4815G= (p.Leu1605=)
c.4719G= (p.Leu1573=)
c.4659G= (p.Leu1553=)
c.4563G= (p.Leu1521=)
c.4533G= (p.Leu1511=)
6g.43038597C>GCA450369047CUL7n.2756G>C
c.4536G>C (p.Leu1512=)
n.1083G>C
c.*1192G>C (n.*1192G>C)
n.5414G>C
c.*2833G>C (n.*2833G>C)
n.4968G>C
n.5113G>C
c.549G>C (p.Leu183=)
c.2407G>C
n.5375G>C
c.4632G>C (p.Leu1544=)
c.3028G>C
c.4788G>C (p.Leu1596=)
c.4692G>C (p.Leu1564=)
c.2397G>C (p.Leu799=)
c.4815G>C (p.Leu1605=)
c.4719G>C (p.Leu1573=)
c.4659G>C (p.Leu1553=)
c.4563G>C (p.Leu1521=)
c.4533G>C (p.Leu1511=)
6g.43038597C>TCA450369048CUL7n.2756G>A
c.4536G>A (p.Leu1512=)
n.1083G>A
c.*1192G>A (n.*1192G>A)
n.5414G>A
c.*2833G>A (n.*2833G>A)
n.4968G>A
n.5113G>A
c.549G>A (p.Leu183=)
c.2407G>A
n.5375G>A
c.4632G>A (p.Leu1544=)
c.3028G>A
c.4788G>A (p.Leu1596=)
c.4692G>A (p.Leu1564=)
c.2397G>A (p.Leu799=)
c.4815G>A (p.Leu1605=)
c.4719G>A (p.Leu1573=)
c.4659G>A (p.Leu1553=)
c.4563G>A (p.Leu1521=)
c.4533G>A (p.Leu1511=)
6g.43038598A=CA1624352797CUL7n.2755T=
c.4535T= (p.Leu1512=)
n.1082T=
c.*1191T= (n.*1191T=)
n.5413T=
c.*2832T= (n.*2832T=)
n.4967T=
n.5112T=
c.548T= (p.Leu183=)
c.2406T=
n.5374T=
c.4631T= (p.Leu1544=)
c.3027T=
c.4787T= (p.Leu1596=)
c.4691T= (p.Leu1564=)
c.2396T= (p.Leu799=)
c.4814T= (p.Leu1605=)
c.4718T= (p.Leu1573=)
c.4658T= (p.Leu1553=)
c.4562T= (p.Leu1521=)
c.4532T= (p.Leu1511=)
6g.43038598A>CCA364189244CUL7n.2755T>G
c.4535T>G (p.Leu1512Arg)
n.1082T>G
c.*1191T>G (n.*1191T>G)
n.5413T>G
c.*2832T>G (n.*2832T>G)
n.4967T>G
n.5112T>G
c.548T>G (p.Leu183Arg)
c.2406T>G
n.5374T>G
c.4631T>G (p.Leu1544Arg)
c.3027T>G
c.4787T>G (p.Leu1596Arg)
c.4691T>G (p.Leu1564Arg)
c.2396T>G (p.Leu799Arg)
c.4814T>G (p.Leu1605Arg)
c.4718T>G (p.Leu1573Arg)
c.4658T>G (p.Leu1553Arg)
c.4562T>G (p.Leu1521Arg)
c.4532T>G (p.Leu1511Arg)
6g.43038598A>GCA364189253CUL7n.2755T>C
c.4535T>C (p.Leu1512Pro)
n.1082T>C
c.*1191T>C (n.*1191T>C)
n.5413T>C
c.*2832T>C (n.*2832T>C)
n.4967T>C
n.5112T>C
c.548T>C (p.Leu183Pro)
c.2406T>C
n.5374T>C
c.4631T>C (p.Leu1544Pro)
c.3027T>C
c.4787T>C (p.Leu1596Pro)
c.4691T>C (p.Leu1564Pro)
c.2396T>C (p.Leu799Pro)
c.4814T>C (p.Leu1605Pro)
c.4718T>C (p.Leu1573Pro)
c.4658T>C (p.Leu1553Pro)
c.4562T>C (p.Leu1521Pro)
c.4532T>C (p.Leu1511Pro)
 dbSNP
6g.43038598A>TCA364189262CUL7n.2755T>A
c.4535T>A (p.Leu1512Gln)
n.1082T>A
c.*1191T>A (n.*1191T>A)
n.5413T>A
c.*2832T>A (n.*2832T>A)
n.4967T>A
n.5112T>A
c.548T>A (p.Leu183Gln)
c.2406T>A
n.5374T>A
c.4631T>A (p.Leu1544Gln)
c.3027T>A
c.4787T>A (p.Leu1596Gln)
c.4691T>A (p.Leu1564Gln)
c.2396T>A (p.Leu799Gln)
c.4814T>A (p.Leu1605Gln)
c.4718T>A (p.Leu1573Gln)
c.4658T>A (p.Leu1553Gln)
c.4562T>A (p.Leu1521Gln)
c.4532T>A (p.Leu1511Gln)
6g.43038598dupCA1624352796CUL7n.2755dup
c.4535dup (p.Asp1513GlyfsTer?)
n.1082dup
c.*1191dup (n.*1191dup)
n.5413dup
c.*2832dup (n.*2832dup)
n.4967dup
n.5112dup
c.548dup (p.Asp184GlyfsTer?)
c.2406dup
n.5374dup
c.4631dup (p.Asp1545GlyfsTer?)
c.3027dup
c.4787dup (p.Asp1597GlyfsTer?)
c.4691dup (p.Asp1565GlyfsTer?)
c.2396dup (p.Asp800GlyfsTer?)
c.4814dup (p.Asp1606GlyfsTer?)
c.4718dup (p.Asp1574GlyfsTer?)
c.4658dup (p.Asp1554GlyfsTer?)
c.4562dup (p.Asp1522GlyfsTer?)
c.4532dup (p.Asp1512GlyfsTer?)
 dbSNP
6g.43038598_43038599delinsAGCA1624352798CUL7n.2754_2755delinsCT
c.4534_4535delinsCT (p.Leu1512=)
n.1081_1082delinsCT
c.*1190_*1191delinsCT (n.*1190_*1191delinsCT)
n.5412_5413delinsCT
c.*2831_*2832delinsCT (n.*2831_*2832delinsCT)
n.4966_4967delinsCT
n.5111_5112delinsCT
c.547_548delinsCT (p.Leu183=)
c.2405_2406delinsCT
n.5373_5374delinsCT
c.4630_4631delinsCT (p.Leu1544=)
c.3026_3027delinsCT
c.4786_4787delinsCT (p.Leu1596=)
c.4690_4691delinsCT (p.Leu1564=)
c.2395_2396delinsCT (p.Leu799=)
c.4813_4814delinsCT (p.Leu1605=)
c.4717_4718delinsCT (p.Leu1573=)
c.4657_4658delinsCT (p.Leu1553=)
c.4561_4562delinsCT (p.Leu1521=)
c.4531_4532delinsCT (p.Leu1511=)
6g.43038599G>ACA450369053CUL7n.2754C>T
c.4534C>T (p.Leu1512=)
n.1081C>T
c.*1190C>T (n.*1190C>T)
n.5412C>T
c.*2831C>T (n.*2831C>T)
n.4966C>T
n.5111C>T
c.547C>T (p.Leu183=)
c.2405C>T
n.5373C>T
c.4630C>T (p.Leu1544=)
c.3026C>T
c.4786C>T (p.Leu1596=)
c.4690C>T (p.Leu1564=)
c.2395C>T (p.Leu799=)
c.4813C>T (p.Leu1605=)
c.4717C>T (p.Leu1573=)
c.4657C>T (p.Leu1553=)
c.4561C>T (p.Leu1521=)
c.4531C>T (p.Leu1511=)
6g.43038599G>CCA364189274CUL7n.2754C>G
c.4534C>G (p.Leu1512Val)
n.1081C>G
c.*1190C>G (n.*1190C>G)
n.5412C>G
c.*2831C>G (n.*2831C>G)
n.4966C>G
n.5111C>G
c.547C>G (p.Leu183Val)
c.2405C>G
n.5373C>G
c.4630C>G (p.Leu1544Val)
c.3026C>G
c.4786C>G (p.Leu1596Val)
c.4690C>G (p.Leu1564Val)
c.2395C>G (p.Leu799Val)
c.4813C>G (p.Leu1605Val)
c.4717C>G (p.Leu1573Val)
c.4657C>G (p.Leu1553Val)
c.4561C>G (p.Leu1521Val)
c.4531C>G (p.Leu1511Val)
6g.43038599G>TCA364189287CUL7n.2754C>A
c.4534C>A (p.Leu1512Met)
n.1081C>A
c.*1190C>A (n.*1190C>A)
n.5412C>A
c.*2831C>A (n.*2831C>A)
n.4966C>A
n.5111C>A
c.547C>A (p.Leu183Met)
c.2405C>A
n.5373C>A
c.4630C>A (p.Leu1544Met)
c.3026C>A
c.4786C>A (p.Leu1596Met)
c.4690C>A (p.Leu1564Met)
c.2395C>A (p.Leu799Met)
c.4813C>A (p.Leu1605Met)
c.4717C>A (p.Leu1573Met)
c.4657C>A (p.Leu1553Met)
c.4561C>A (p.Leu1521Met)
c.4531C>A (p.Leu1511Met)
6g.43038603dupCA1624352800CUL7n.2754dup
c.4534dup (p.Leu1512ProfsTer?)
n.1081dup
c.*1190dup (n.*1190dup)
n.5412dup
c.*2831dup (n.*2831dup)
n.4966dup
n.5111dup
c.547dup (p.Leu183ProfsTer?)
c.2405dup
n.5373dup
c.4630dup (p.Leu1544ProfsTer?)
c.3026dup
c.4786dup (p.Leu1596ProfsTer?)
c.4690dup (p.Leu1564ProfsTer?)
c.2395dup (p.Leu799ProfsTer?)
c.4813dup (p.Leu1605ProfsTer?)
c.4717dup (p.Leu1573ProfsTer?)
c.4657dup (p.Leu1553ProfsTer?)
c.4561dup (p.Leu1521ProfsTer?)
c.4531dup (p.Leu1511ProfsTer?)
 dbSNP gnomAD v4
6g.43038603delCA1624352799CUL7n.2754del
c.4534del (p.Leu1512TrpfsTer?)
n.1081del
c.*1190del (n.*1190del)
n.5412del
c.*2831del (n.*2831del)
n.4966del
n.5111del
c.547del (p.Leu183TrpfsTer?)
c.2405del
n.5373del
c.4630del (p.Leu1544TrpfsTer?)
c.3026del
c.4786del (p.Leu1596TrpfsTer?)
c.4690del (p.Leu1564TrpfsTer?)
c.2395del (p.Leu799TrpfsTer?)
c.4813del (p.Leu1605TrpfsTer?)
c.4717del (p.Leu1573TrpfsTer?)
c.4657del (p.Leu1553TrpfsTer?)
c.4561del (p.Leu1521TrpfsTer?)
c.4531del (p.Leu1511TrpfsTer?)
 dbSNP
6g.43038600G>ACA450369054CUL7n.2753C>T
c.4533C>T (p.Pro1511=)
n.1080C>T
c.*1189C>T (n.*1189C>T)
n.5411C>T
c.*2830C>T (n.*2830C>T)
n.4965C>T
n.5110C>T
c.546C>T (p.Pro182=)
c.2404C>T
n.5372C>T
c.4629C>T (p.Pro1543=)
c.3025C>T
c.4785C>T (p.Pro1595=)
c.4689C>T (p.Pro1563=)
c.2394C>T (p.Pro798=)
c.4812C>T (p.Pro1604=)
c.4716C>T (p.Pro1572=)
c.4656C>T (p.Pro1552=)
c.4560C>T (p.Pro1520=)
c.4530C>T (p.Pro1510=)
6g.43038600G>CCA450369055CUL7n.2753C>G
c.4533C>G (p.Pro1511=)
n.1080C>G
c.*1189C>G (n.*1189C>G)
n.5411C>G
c.*2830C>G (n.*2830C>G)
n.4965C>G
n.5110C>G
c.546C>G (p.Pro182=)
c.2404C>G
n.5372C>G
c.4629C>G (p.Pro1543=)
c.3025C>G
c.4785C>G (p.Pro1595=)
c.4689C>G (p.Pro1563=)
c.2394C>G (p.Pro798=)
c.4812C>G (p.Pro1604=)
c.4716C>G (p.Pro1572=)
c.4656C>G (p.Pro1552=)
c.4560C>G (p.Pro1520=)
c.4530C>G (p.Pro1510=)
6g.43038600G>TCA450369056CUL7n.2753C>A
c.4533C>A (p.Pro1511=)
n.1080C>A
c.*1189C>A (n.*1189C>A)
n.5411C>A
c.*2830C>A (n.*2830C>A)
n.4965C>A
n.5110C>A
c.546C>A (p.Pro182=)
c.2404C>A
n.5372C>A
c.4629C>A (p.Pro1543=)
c.3025C>A
c.4785C>A (p.Pro1595=)
c.4689C>A (p.Pro1563=)
c.2394C>A (p.Pro798=)
c.4812C>A (p.Pro1604=)
c.4716C>A (p.Pro1572=)
c.4656C>A (p.Pro1552=)
c.4560C>A (p.Pro1520=)
c.4530C>A (p.Pro1510=)
6g.43038601G>ACA364189293CUL7n.2752C>T
c.4532C>T (p.Pro1511Leu)
n.1079C>T
c.*1188C>T (n.*1188C>T)
n.5410C>T
c.*2829C>T (n.*2829C>T)
n.4964C>T
n.5109C>T
c.545C>T (p.Pro182Leu)
c.2403C>T
n.5371C>T
c.4628C>T (p.Pro1543Leu)
c.3024C>T
c.4784C>T (p.Pro1595Leu)
c.4688C>T (p.Pro1563Leu)
c.2393C>T (p.Pro798Leu)
c.4811C>T (p.Pro1604Leu)
c.4715C>T (p.Pro1572Leu)
c.4655C>T (p.Pro1552Leu)
c.4559C>T (p.Pro1520Leu)
c.4529C>T (p.Pro1510Leu)
6g.43038601G>CCA364189292CUL7n.2752C>G
c.4532C>G (p.Pro1511Arg)
n.1079C>G
c.*1188C>G (n.*1188C>G)
n.5410C>G
c.*2829C>G (n.*2829C>G)
n.4964C>G
n.5109C>G
c.545C>G (p.Pro182Arg)
c.2403C>G
n.5371C>G
c.4628C>G (p.Pro1543Arg)
c.3024C>G
c.4784C>G (p.Pro1595Arg)
c.4688C>G (p.Pro1563Arg)
c.2393C>G (p.Pro798Arg)
c.4811C>G (p.Pro1604Arg)
c.4715C>G (p.Pro1572Arg)
c.4655C>G (p.Pro1552Arg)
c.4559C>G (p.Pro1520Arg)
c.4529C>G (p.Pro1510Arg)
6g.43038601G>TCA364189291CUL7n.2752C>A
c.4532C>A (p.Pro1511His)
n.1079C>A
c.*1188C>A (n.*1188C>A)
n.5410C>A
c.*2829C>A (n.*2829C>A)
n.4964C>A
n.5109C>A
c.545C>A (p.Pro182His)
c.2403C>A
n.5371C>A
c.4628C>A (p.Pro1543His)
c.3024C>A
c.4784C>A (p.Pro1595His)
c.4688C>A (p.Pro1563His)
c.2393C>A (p.Pro798His)
c.4811C>A (p.Pro1604His)
c.4715C>A (p.Pro1572His)
c.4655C>A (p.Pro1552His)
c.4559C>A (p.Pro1520His)
c.4529C>A (p.Pro1510His)
6g.43038602G>ACA364189299CUL7n.2751C>T
c.4531C>T (p.Pro1511Ser)
n.1078C>T
c.*1187C>T (n.*1187C>T)
n.5409C>T
c.*2828C>T (n.*2828C>T)
n.4963C>T
n.5108C>T
c.544C>T (p.Pro182Ser)
c.2402C>T
n.5370C>T
c.4627C>T (p.Pro1543Ser)
c.3023C>T
c.4783C>T (p.Pro1595Ser)
c.4687C>T (p.Pro1563Ser)
c.2392C>T (p.Pro798Ser)
c.4810C>T (p.Pro1604Ser)
c.4714C>T (p.Pro1572Ser)
c.4654C>T (p.Pro1552Ser)
c.4558C>T (p.Pro1520Ser)
c.4528C>T (p.Pro1510Ser)
 gnomAD v4
6g.43038602G>CCA364189305CUL7n.2751C>G
c.4531C>G (p.Pro1511Ala)
n.1078C>G
c.*1187C>G (n.*1187C>G)
n.5409C>G
c.*2828C>G (n.*2828C>G)
n.4963C>G
n.5108C>G
c.544C>G (p.Pro182Ala)
c.2402C>G
n.5370C>G
c.4627C>G (p.Pro1543Ala)
c.3023C>G
c.4783C>G (p.Pro1595Ala)
c.4687C>G (p.Pro1563Ala)
c.2392C>G (p.Pro798Ala)
c.4810C>G (p.Pro1604Ala)
c.4714C>G (p.Pro1572Ala)
c.4654C>G (p.Pro1552Ala)
c.4558C>G (p.Pro1520Ala)
c.4528C>G (p.Pro1510Ala)
6g.43038602G=CA1624352801CUL7n.2751C=
c.4531C= (p.Pro1511=)
n.1078C=
c.*1187C= (n.*1187C=)
n.5409C=
c.*2828C= (n.*2828C=)
n.4963C=
n.5108C=
c.544C= (p.Pro182=)
c.2402C=
n.5370C=
c.4627C= (p.Pro1543=)
c.3023C=
c.4783C= (p.Pro1595=)
c.4687C= (p.Pro1563=)
c.2392C= (p.Pro798=)
c.4810C= (p.Pro1604=)
c.4714C= (p.Pro1572=)
c.4654C= (p.Pro1552=)
c.4558C= (p.Pro1520=)
c.4528C= (p.Pro1510=)
6g.43038602G>TCA364189306CUL7n.2751C>A
c.4531C>A (p.Pro1511Thr)
n.1078C>A
c.*1187C>A (n.*1187C>A)
n.5409C>A
c.*2828C>A (n.*2828C>A)
n.4963C>A
n.5108C>A
c.544C>A (p.Pro182Thr)
c.2402C>A
n.5370C>A
c.4627C>A (p.Pro1543Thr)
c.3023C>A
c.4783C>A (p.Pro1595Thr)
c.4687C>A (p.Pro1563Thr)
c.2392C>A (p.Pro798Thr)
c.4810C>A (p.Pro1604Thr)
c.4714C>A (p.Pro1572Thr)
c.4654C>A (p.Pro1552Thr)
c.4558C>A (p.Pro1520Thr)
c.4528C>A (p.Pro1510Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.43038603G>ACA450369060CUL7n.2750C>T
c.4530C>T (p.Gly1510=)
n.1077C>T
c.*1186C>T (n.*1186C>T)
n.5408C>T
c.*2827C>T (n.*2827C>T)
n.4962C>T
n.5107C>T
c.543C>T (p.Gly181=)
c.2401C>T
n.5369C>T
c.4626C>T (p.Gly1542=)
c.3022C>T
c.4782C>T (p.Gly1594=)
c.4686C>T (p.Gly1562=)
c.2391C>T (p.Gly797=)
c.4809C>T (p.Gly1603=)
c.4713C>T (p.Gly1571=)
c.4653C>T (p.Gly1551=)
c.4557C>T (p.Gly1519=)
c.4527C>T (p.Gly1509=)
 dbSNP gnomAD v2 gnomAD v4
6g.43038603G>CCA450369061CUL7n.2750C>G
c.4530C>G (p.Gly1510=)
n.1077C>G
c.*1186C>G (n.*1186C>G)
n.5408C>G
c.*2827C>G (n.*2827C>G)
n.4962C>G
n.5107C>G
c.543C>G (p.Gly181=)
c.2401C>G
n.5369C>G
c.4626C>G (p.Gly1542=)
c.3022C>G
c.4782C>G (p.Gly1594=)
c.4686C>G (p.Gly1562=)
c.2391C>G (p.Gly797=)
c.4809C>G (p.Gly1603=)
c.4713C>G (p.Gly1571=)
c.4653C>G (p.Gly1551=)
c.4557C>G (p.Gly1519=)
c.4527C>G (p.Gly1509=)
6g.43038603G=CA1624352802CUL7n.2750C=
c.4530C= (p.Gly1510=)
n.1077C=
c.*1186C= (n.*1186C=)
n.5408C=
c.*2827C= (n.*2827C=)
n.4962C=
n.5107C=
c.543C= (p.Gly181=)
c.2401C=
n.5369C=
c.4626C= (p.Gly1542=)
c.3022C=
c.4782C= (p.Gly1594=)
c.4686C= (p.Gly1562=)
c.2391C= (p.Gly797=)
c.4809C= (p.Gly1603=)
c.4713C= (p.Gly1571=)
c.4653C= (p.Gly1551=)
c.4557C= (p.Gly1519=)
c.4527C= (p.Gly1509=)
6g.43038603G>TCA450369062CUL7n.2750C>A
c.4530C>A (p.Gly1510=)
n.1077C>A
c.*1186C>A (n.*1186C>A)
n.5408C>A
c.*2827C>A (n.*2827C>A)
n.4962C>A
n.5107C>A
c.543C>A (p.Gly181=)
c.2401C>A
n.5369C>A
c.4626C>A (p.Gly1542=)
c.3022C>A
c.4782C>A (p.Gly1594=)
c.4686C>A (p.Gly1562=)
c.2391C>A (p.Gly797=)
c.4809C>A (p.Gly1603=)
c.4713C>A (p.Gly1571=)
c.4653C>A (p.Gly1551=)
c.4557C>A (p.Gly1519=)
c.4527C>A (p.Gly1509=)
6g.43038604C>ACA236260CUL7n.2749G>T
c.4529G>T (p.Gly1510Val)
n.1076G>T
c.*1185G>T (n.*1185G>T)
n.5407G>T
c.*2826G>T (n.*2826G>T)
n.4961G>T
n.5106G>T
c.542G>T (p.Gly181Val)
c.2400G>T
n.5368G>T
c.4625G>T (p.Gly1542Val)
c.3021G>T
c.4781G>T (p.Gly1594Val)
c.4685G>T (p.Gly1562Val)
c.2390G>T (p.Gly797Val)
c.4808G>T (p.Gly1603Val)
c.4712G>T (p.Gly1571Val)
c.4652G>T (p.Gly1551Val)
c.4556G>T (p.Gly1519Val)
c.4526G>T (p.Gly1509Val)
 ClinVar dbSNP
6g.43038604C=CA1624352803CUL7n.2749G=
c.4529G= (p.Gly1510=)
n.1076G=
c.*1185G= (n.*1185G=)
n.5407G=
c.*2826G= (n.*2826G=)
n.4961G=
n.5106G=
c.542G= (p.Gly181=)
c.2400G=
n.5368G=
c.4625G= (p.Gly1542=)
c.3021G=
c.4781G= (p.Gly1594=)
c.4685G= (p.Gly1562=)
c.2390G= (p.Gly797=)
c.4808G= (p.Gly1603=)
c.4712G= (p.Gly1571=)
c.4652G= (p.Gly1551=)
c.4556G= (p.Gly1519=)
c.4526G= (p.Gly1509=)
6g.43038604C>GCA364189320CUL7n.2749G>C
c.4529G>C (p.Gly1510Ala)
n.1076G>C
c.*1185G>C (n.*1185G>C)
n.5407G>C
c.*2826G>C (n.*2826G>C)
n.4961G>C
n.5106G>C
c.542G>C (p.Gly181Ala)
c.2400G>C
n.5368G>C
c.4625G>C (p.Gly1542Ala)
c.3021G>C
c.4781G>C (p.Gly1594Ala)
c.4685G>C (p.Gly1562Ala)
c.2390G>C (p.Gly797Ala)
c.4808G>C (p.Gly1603Ala)
c.4712G>C (p.Gly1571Ala)
c.4652G>C (p.Gly1551Ala)
c.4556G>C (p.Gly1519Ala)
c.4526G>C (p.Gly1509Ala)
6g.43038604C>TCA364189325CUL7n.2749G>A
c.4529G>A (p.Gly1510Asp)
n.1076G>A
c.*1185G>A (n.*1185G>A)
n.5407G>A
c.*2826G>A (n.*2826G>A)
n.4961G>A
n.5106G>A
c.542G>A (p.Gly181Asp)
c.2400G>A
n.5368G>A
c.4625G>A (p.Gly1542Asp)
c.3021G>A
c.4781G>A (p.Gly1594Asp)
c.4685G>A (p.Gly1562Asp)
c.2390G>A (p.Gly797Asp)
c.4808G>A (p.Gly1603Asp)
c.4712G>A (p.Gly1571Asp)
c.4652G>A (p.Gly1551Asp)
c.4556G>A (p.Gly1519Asp)
c.4526G>A (p.Gly1509Asp)
6g.43038605C>ACA364189334CUL7n.2748G>T
c.4528G>T (p.Gly1510Cys)
n.1075G>T
c.*1184G>T (n.*1184G>T)
n.5406G>T
c.*2825G>T (n.*2825G>T)
n.4960G>T
n.5105G>T
c.541G>T (p.Gly181Cys)
c.2399G>T
n.5367G>T
c.4624G>T (p.Gly1542Cys)
c.3020G>T
c.4780G>T (p.Gly1594Cys)
c.4684G>T (p.Gly1562Cys)
c.2389G>T (p.Gly797Cys)
c.4807G>T (p.Gly1603Cys)
c.4711G>T (p.Gly1571Cys)
c.4651G>T (p.Gly1551Cys)
c.4555G>T (p.Gly1519Cys)
c.4525G>T (p.Gly1509Cys)
 gnomAD v4
6g.43038605C=CA1624352804CUL7n.2748G=
c.4528G= (p.Gly1510=)
n.1075G=
c.*1184G= (n.*1184G=)
n.5406G=
c.*2825G= (n.*2825G=)
n.4960G=
n.5105G=
c.541G= (p.Gly181=)
c.2399G=
n.5367G=
c.4624G= (p.Gly1542=)
c.3020G=
c.4780G= (p.Gly1594=)
c.4684G= (p.Gly1562=)
c.2389G= (p.Gly797=)
c.4807G= (p.Gly1603=)
c.4711G= (p.Gly1571=)
c.4651G= (p.Gly1551=)
c.4555G= (p.Gly1519=)
c.4525G= (p.Gly1509=)
6g.43038605C>GCA364189328CUL7n.2748G>C
c.4528G>C (p.Gly1510Arg)
n.1075G>C
c.*1184G>C (n.*1184G>C)
n.5406G>C
c.*2825G>C (n.*2825G>C)
n.4960G>C
n.5105G>C
c.541G>C (p.Gly181Arg)
c.2399G>C
n.5367G>C
c.4624G>C (p.Gly1542Arg)
c.3020G>C
c.4780G>C (p.Gly1594Arg)
c.4684G>C (p.Gly1562Arg)
c.2389G>C (p.Gly797Arg)
c.4807G>C (p.Gly1603Arg)
c.4711G>C (p.Gly1571Arg)
c.4651G>C (p.Gly1551Arg)
c.4555G>C (p.Gly1519Arg)
c.4525G>C (p.Gly1509Arg)
6g.43038605C>TCA364189329CUL7n.2748G>A
c.4528G>A (p.Gly1510Ser)
n.1075G>A
c.*1184G>A (n.*1184G>A)
n.5406G>A
c.*2825G>A (n.*2825G>A)
n.4960G>A
n.5105G>A
c.541G>A (p.Gly181Ser)
c.2399G>A
n.5367G>A
c.4624G>A (p.Gly1542Ser)
c.3020G>A
c.4780G>A (p.Gly1594Ser)
c.4684G>A (p.Gly1562Ser)
c.2389G>A (p.Gly797Ser)
c.4807G>A (p.Gly1603Ser)
c.4711G>A (p.Gly1571Ser)
c.4651G>A (p.Gly1551Ser)
c.4555G>A (p.Gly1519Ser)
c.4525G>A (p.Gly1509Ser)
 dbSNP gnomAD v2
6g.43038606T>ACA364189341CUL7n.2747A>T
c.4527A>T (p.Arg1509Ser)
n.1074A>T
c.*1183A>T (n.*1183A>T)
n.5405A>T
c.*2824A>T (n.*2824A>T)
n.4959A>T
n.5104A>T
c.540A>T (p.Arg180Ser)
c.2398A>T
n.5366A>T
c.4623A>T (p.Arg1541Ser)
c.3019A>T
c.4779A>T (p.Arg1593Ser)
c.4683A>T (p.Arg1561Ser)
c.2388A>T (p.Arg796Ser)
c.4806A>T (p.Arg1602Ser)
c.4710A>T (p.Arg1570Ser)
c.4650A>T (p.Arg1550Ser)
c.4554A>T (p.Arg1518Ser)
c.4524A>T (p.Arg1508Ser)
6g.43038606T>CCA450369066CUL7n.2747A>G
c.4527A>G (p.Arg1509=)
n.1074A>G
c.*1183A>G (n.*1183A>G)
n.5405A>G
c.*2824A>G (n.*2824A>G)
n.4959A>G
n.5104A>G
c.540A>G (p.Arg180=)
c.2398A>G
n.5366A>G
c.4623A>G (p.Arg1541=)
c.3019A>G
c.4779A>G (p.Arg1593=)
c.4683A>G (p.Arg1561=)
c.2388A>G (p.Arg796=)
c.4806A>G (p.Arg1602=)
c.4710A>G (p.Arg1570=)
c.4650A>G (p.Arg1550=)
c.4554A>G (p.Arg1518=)
c.4524A>G (p.Arg1508=)
6g.43038606T>GCA364189354CUL7n.2747A>C
c.4527A>C (p.Arg1509Ser)
n.1074A>C
c.*1183A>C (n.*1183A>C)
n.5405A>C
c.*2824A>C (n.*2824A>C)
n.4959A>C
n.5104A>C
c.540A>C (p.Arg180Ser)
c.2398A>C
n.5366A>C
c.4623A>C (p.Arg1541Ser)
c.3019A>C
c.4779A>C (p.Arg1593Ser)
c.4683A>C (p.Arg1561Ser)
c.2388A>C (p.Arg796Ser)
c.4806A>C (p.Arg1602Ser)
c.4710A>C (p.Arg1570Ser)
c.4650A>C (p.Arg1550Ser)
c.4554A>C (p.Arg1518Ser)
c.4524A>C (p.Arg1508Ser)
6g.43038607C>ACA364189359CUL7n.2746G>T
c.4526G>T (p.Arg1509Ile)
n.1073G>T
c.*1182G>T (n.*1182G>T)
n.5404G>T
c.*2823G>T (n.*2823G>T)
n.4958G>T
n.5103G>T
c.539G>T (p.Arg180Ile)
c.2397G>T
n.5365G>T
c.4622G>T (p.Arg1541Ile)
c.3018G>T
c.4778G>T (p.Arg1593Ile)
c.4682G>T (p.Arg1561Ile)
c.2387G>T (p.Arg796Ile)
c.4805G>T (p.Arg1602Ile)
c.4709G>T (p.Arg1570Ile)
c.4649G>T (p.Arg1550Ile)
c.4553G>T (p.Arg1518Ile)
c.4523G>T (p.Arg1508Ile)
 dbSNP gnomAD v2
6g.43038607C=CA1624352805CUL7n.2746G=
c.4526G= (p.Arg1509=)
n.1073G=
c.*1182G= (n.*1182G=)
n.5404G=
c.*2823G= (n.*2823G=)
n.4958G=
n.5103G=
c.539G= (p.Arg180=)
c.2397G=
n.5365G=
c.4622G= (p.Arg1541=)
c.3018G=
c.4778G= (p.Arg1593=)
c.4682G= (p.Arg1561=)
c.2387G= (p.Arg796=)
c.4805G= (p.Arg1602=)
c.4709G= (p.Arg1570=)
c.4649G= (p.Arg1550=)
c.4553G= (p.Arg1518=)
c.4523G= (p.Arg1508=)
6g.43038607C>GCA3813183CUL7n.2746G>C
c.4526G>C (p.Arg1509Thr)
n.1073G>C
c.*1182G>C (n.*1182G>C)
n.5404G>C
c.*2823G>C (n.*2823G>C)
n.4958G>C
n.5103G>C
c.539G>C (p.Arg180Thr)
c.2397G>C
n.5365G>C
c.4622G>C (p.Arg1541Thr)
c.3018G>C
c.4778G>C (p.Arg1593Thr)
c.4682G>C (p.Arg1561Thr)
c.2387G>C (p.Arg796Thr)
c.4805G>C (p.Arg1602Thr)
c.4709G>C (p.Arg1570Thr)
c.4649G>C (p.Arg1550Thr)
c.4553G>C (p.Arg1518Thr)
c.4523G>C (p.Arg1508Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43038607C>TCA364189375CUL7n.2746G>A
c.4526G>A (p.Arg1509Lys)
n.1073G>A
c.*1182G>A (n.*1182G>A)
n.5404G>A
c.*2823G>A (n.*2823G>A)
n.4958G>A
n.5103G>A
c.539G>A (p.Arg180Lys)
c.2397G>A
n.5365G>A
c.4622G>A (p.Arg1541Lys)
c.3018G>A
c.4778G>A (p.Arg1593Lys)
c.4682G>A (p.Arg1561Lys)
c.2387G>A (p.Arg796Lys)
c.4805G>A (p.Arg1602Lys)
c.4709G>A (p.Arg1570Lys)
c.4649G>A (p.Arg1550Lys)
c.4553G>A (p.Arg1518Lys)
c.4523G>A (p.Arg1508Lys)
6g.43038608T>ACA364189385CUL7n.2745A>T
c.4525A>T (p.Arg1509Ter)
n.1072A>T
c.*1181A>T (n.*1181A>T)
n.5403A>T
c.*2822A>T (n.*2822A>T)
n.4957A>T
n.5102A>T
c.538A>T (p.Arg180Ter)
c.2396A>T
n.5364A>T
c.4621A>T (p.Arg1541Ter)
c.3017A>T
c.4777A>T (p.Arg1593Ter)
c.4681A>T (p.Arg1561Ter)
c.2386A>T (p.Arg796Ter)
c.4804A>T (p.Arg1602Ter)
c.4708A>T (p.Arg1570Ter)
c.4648A>T (p.Arg1550Ter)
c.4552A>T (p.Arg1518Ter)
c.4522A>T (p.Arg1508Ter)
6g.43038608T>CCA138240377CUL7n.2745A>G
c.4525A>G (p.Arg1509Gly)
n.1072A>G
c.*1181A>G (n.*1181A>G)
n.5403A>G
c.*2822A>G (n.*2822A>G)
n.4957A>G
n.5102A>G
c.538A>G (p.Arg180Gly)
c.2396A>G
n.5364A>G
c.4621A>G (p.Arg1541Gly)
c.3017A>G
c.4777A>G (p.Arg1593Gly)
c.4681A>G (p.Arg1561Gly)
c.2386A>G (p.Arg796Gly)
c.4804A>G (p.Arg1602Gly)
c.4708A>G (p.Arg1570Gly)
c.4648A>G (p.Arg1550Gly)
c.4552A>G (p.Arg1518Gly)
c.4522A>G (p.Arg1508Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.43038608T>GCA450369073CUL7n.2745A>C
c.4525A>C (p.Arg1509=)
n.1072A>C
c.*1181A>C (n.*1181A>C)
n.5403A>C
c.*2822A>C (n.*2822A>C)
n.4957A>C
n.5102A>C
c.538A>C (p.Arg180=)
c.2396A>C
n.5364A>C
c.4621A>C (p.Arg1541=)
c.3017A>C
c.4777A>C (p.Arg1593=)
c.4681A>C (p.Arg1561=)
c.2386A>C (p.Arg796=)
c.4804A>C (p.Arg1602=)
c.4708A>C (p.Arg1570=)
c.4648A>C (p.Arg1550=)
c.4552A>C (p.Arg1518=)
c.4522A>C (p.Arg1508=)
6g.43038608T=CA1624352806CUL7n.2745A=
c.4525A= (p.Arg1509=)
n.1072A=
c.*1181A= (n.*1181A=)
n.5403A=
c.*2822A= (n.*2822A=)
n.4957A=
n.5102A=
c.538A= (p.Arg180=)
c.2396A=
n.5364A=
c.4621A= (p.Arg1541=)
c.3017A=
c.4777A= (p.Arg1593=)
c.4681A= (p.Arg1561=)
c.2386A= (p.Arg796=)
c.4804A= (p.Arg1602=)
c.4708A= (p.Arg1570=)
c.4648A= (p.Arg1550=)
c.4552A= (p.Arg1518=)
c.4522A= (p.Arg1508=)
6g.43038609T>ACA450369075CUL7n.2744A>T
c.4524A>T (p.Ser1508=)
n.1071A>T
c.*1180A>T (n.*1180A>T)
n.5402A>T
c.*2821A>T (n.*2821A>T)
n.4956A>T
n.5101A>T
c.537A>T (p.Ser179=)
c.2395A>T
n.5363A>T
c.4620A>T (p.Ser1540=)
c.3016A>T
c.4776A>T (p.Ser1592=)
c.4680A>T (p.Ser1560=)
c.2385A>T (p.Ser795=)
c.4803A>T (p.Ser1601=)
c.4707A>T (p.Ser1569=)
c.4647A>T (p.Ser1549=)
c.4551A>T (p.Ser1517=)
c.4521A>T (p.Ser1507=)
6g.43038609T>CCA450369076CUL7n.2744A>G
c.4524A>G (p.Ser1508=)
n.1071A>G
c.*1180A>G (n.*1180A>G)
n.5402A>G
c.*2821A>G (n.*2821A>G)
n.4956A>G
n.5101A>G
c.537A>G (p.Ser179=)
c.2395A>G
n.5363A>G
c.4620A>G (p.Ser1540=)
c.3016A>G
c.4776A>G (p.Ser1592=)
c.4680A>G (p.Ser1560=)
c.2385A>G (p.Ser795=)
c.4803A>G (p.Ser1601=)
c.4707A>G (p.Ser1569=)
c.4647A>G (p.Ser1549=)
c.4551A>G (p.Ser1517=)
c.4521A>G (p.Ser1507=)
6g.43038609T>GCA450369077CUL7n.2744A>C
c.4524A>C (p.Ser1508=)
n.1071A>C
c.*1180A>C (n.*1180A>C)
n.5402A>C
c.*2821A>C (n.*2821A>C)
n.4956A>C
n.5101A>C
c.537A>C (p.Ser179=)
c.2395A>C
n.5363A>C
c.4620A>C (p.Ser1540=)
c.3016A>C
c.4776A>C (p.Ser1592=)
c.4680A>C (p.Ser1560=)
c.2385A>C (p.Ser795=)
c.4803A>C (p.Ser1601=)
c.4707A>C (p.Ser1569=)
c.4647A>C (p.Ser1549=)
c.4551A>C (p.Ser1517=)
c.4521A>C (p.Ser1507=)
6g.43038610G>ACA364189407CUL7n.2743C>T
c.4523C>T (p.Ser1508Leu)
n.1070C>T
c.*1179C>T (n.*1179C>T)
n.5401C>T
c.*2820C>T (n.*2820C>T)
n.4955C>T
n.5100C>T
c.536C>T (p.Ser179Leu)
c.2394C>T
n.5362C>T
c.4619C>T (p.Ser1540Leu)
c.3015C>T
c.4775C>T (p.Ser1592Leu)
c.4679C>T (p.Ser1560Leu)
c.2384C>T (p.Ser795Leu)
c.4802C>T (p.Ser1601Leu)
c.4706C>T (p.Ser1569Leu)
c.4646C>T (p.Ser1549Leu)
c.4550C>T (p.Ser1517Leu)
c.4520C>T (p.Ser1507Leu)
6g.43038610G>CCA364189414CUL7n.2743C>G
c.4523C>G (p.Ser1508Ter)
n.1070C>G
c.*1179C>G (n.*1179C>G)
n.5401C>G
c.*2820C>G (n.*2820C>G)
n.4955C>G
n.5100C>G
c.536C>G (p.Ser179Ter)
c.2394C>G
n.5362C>G
c.4619C>G (p.Ser1540Ter)
c.3015C>G
c.4775C>G (p.Ser1592Ter)
c.4679C>G (p.Ser1560Ter)
c.2384C>G (p.Ser795Ter)
c.4802C>G (p.Ser1601Ter)
c.4706C>G (p.Ser1569Ter)
c.4646C>G (p.Ser1549Ter)
c.4550C>G (p.Ser1517Ter)
c.4520C>G (p.Ser1507Ter)
6g.43038610G>TCA364189419CUL7n.2743C>A
c.4523C>A (p.Ser1508Ter)
n.1070C>A
c.*1179C>A (n.*1179C>A)
n.5401C>A
c.*2820C>A (n.*2820C>A)
n.4955C>A
n.5100C>A
c.536C>A (p.Ser179Ter)
c.2394C>A
n.5362C>A
c.4619C>A (p.Ser1540Ter)
c.3015C>A
c.4775C>A (p.Ser1592Ter)
c.4679C>A (p.Ser1560Ter)
c.2384C>A (p.Ser795Ter)
c.4802C>A (p.Ser1601Ter)
c.4706C>A (p.Ser1569Ter)
c.4646C>A (p.Ser1549Ter)
c.4550C>A (p.Ser1517Ter)
c.4520C>A (p.Ser1507Ter)
6g.43038612_43038614delCA2678803962CUL7n.2741_2743del
c.4521_4523del (p.Ser1508del)
n.1068_1070del
c.*1177_*1179del (n.*1177_*1179del)
n.5399_5401del
c.*2818_*2820del (n.*2818_*2820del)
n.4953_4955del
n.5098_5100del
c.534_536del (p.Ser179del)
c.2392_2394del
n.5360_5362del
c.4617_4619del (p.Ser1540del)
c.3013_3015del
c.4773_4775del (p.Ser1592del)
c.4677_4679del (p.Ser1560del)
c.2382_2384del (p.Ser795del)
c.4800_4802del (p.Ser1601del)
c.4704_4706del (p.Ser1569del)
c.4644_4646del (p.Ser1549del)
c.4548_4550del (p.Ser1517del)
c.4518_4520del (p.Ser1507del)
 gnomAD v4
6g.43038611A>CCA364189425CUL7n.2742T>G
c.4522T>G (p.Ser1508Ala)
n.1069T>G
c.*1178T>G (n.*1178T>G)
n.5400T>G
c.*2819T>G (n.*2819T>G)
n.4954T>G
n.5099T>G
c.535T>G (p.Ser179Ala)
c.2393T>G
n.5361T>G
c.4618T>G (p.Ser1540Ala)
c.3014T>G
c.4774T>G (p.Ser1592Ala)
c.4678T>G (p.Ser1560Ala)
c.2383T>G (p.Ser795Ala)
c.4801T>G (p.Ser1601Ala)
c.4705T>G (p.Ser1569Ala)
c.4645T>G (p.Ser1549Ala)
c.4549T>G (p.Ser1517Ala)
c.4519T>G (p.Ser1507Ala)
6g.43038611A>GCA364189426CUL7n.2742T>C
c.4522T>C (p.Ser1508Pro)
n.1069T>C
c.*1178T>C (n.*1178T>C)
n.5400T>C
c.*2819T>C (n.*2819T>C)
n.4954T>C
n.5099T>C
c.535T>C (p.Ser179Pro)
c.2393T>C
n.5361T>C
c.4618T>C (p.Ser1540Pro)
c.3014T>C
c.4774T>C (p.Ser1592Pro)
c.4678T>C (p.Ser1560Pro)
c.2383T>C (p.Ser795Pro)
c.4801T>C (p.Ser1601Pro)
c.4705T>C (p.Ser1569Pro)
c.4645T>C (p.Ser1549Pro)
c.4549T>C (p.Ser1517Pro)
c.4519T>C (p.Ser1507Pro)
6g.43038611A>TCA364189427CUL7n.2742T>A
c.4522T>A (p.Ser1508Thr)
n.1069T>A
c.*1178T>A (n.*1178T>A)
n.5400T>A
c.*2819T>A (n.*2819T>A)
n.4954T>A
n.5099T>A
c.535T>A (p.Ser179Thr)
c.2393T>A
n.5361T>A
c.4618T>A (p.Ser1540Thr)
c.3014T>A
c.4774T>A (p.Ser1592Thr)
c.4678T>A (p.Ser1560Thr)
c.2383T>A (p.Ser795Thr)
c.4801T>A (p.Ser1601Thr)
c.4705T>A (p.Ser1569Thr)
c.4645T>A (p.Ser1549Thr)
c.4549T>A (p.Ser1517Thr)
c.4519T>A (p.Ser1507Thr)
6g.43038612A>CCA450369087CUL7n.2741T>G
c.4521T>G (p.Ser1507=)
n.1068T>G
c.*1177T>G (n.*1177T>G)
n.5399T>G
c.*2818T>G (n.*2818T>G)
n.4953T>G
n.5098T>G
c.534T>G (p.Ser178=)
c.2392T>G
n.5360T>G
c.4617T>G (p.Ser1539=)
c.3013T>G
c.4773T>G (p.Ser1591=)
c.4677T>G (p.Ser1559=)
c.2382T>G (p.Ser794=)
c.4800T>G (p.Ser1600=)
c.4704T>G (p.Ser1568=)
c.4644T>G (p.Ser1548=)
c.4548T>G (p.Ser1516=)
c.4518T>G (p.Ser1506=)
6g.43038612A>GCA450369089CUL7n.2741T>C
c.4521T>C (p.Ser1507=)
n.1068T>C
c.*1177T>C (n.*1177T>C)
n.5399T>C
c.*2818T>C (n.*2818T>C)
n.4953T>C
n.5098T>C
c.534T>C (p.Ser178=)
c.2392T>C
n.5360T>C
c.4617T>C (p.Ser1539=)
c.3013T>C
c.4773T>C (p.Ser1591=)
c.4677T>C (p.Ser1559=)
c.2382T>C (p.Ser794=)
c.4800T>C (p.Ser1600=)
c.4704T>C (p.Ser1568=)
c.4644T>C (p.Ser1548=)
c.4548T>C (p.Ser1516=)
c.4518T>C (p.Ser1506=)
6g.43038612A>TCA450369090CUL7n.2741T>A
c.4521T>A (p.Ser1507=)
n.1068T>A
c.*1177T>A (n.*1177T>A)
n.5399T>A
c.*2818T>A (n.*2818T>A)
n.4953T>A
n.5098T>A
c.534T>A (p.Ser178=)
c.2392T>A
n.5360T>A
c.4617T>A (p.Ser1539=)
c.3013T>A
c.4773T>A (p.Ser1591=)
c.4677T>A (p.Ser1559=)
c.2382T>A (p.Ser794=)
c.4800T>A (p.Ser1600=)
c.4704T>A (p.Ser1568=)
c.4644T>A (p.Ser1548=)
c.4548T>A (p.Ser1516=)
c.4518T>A (p.Ser1506=)
6g.43038613G>ACA364189429CUL7n.2740C>T
c.4520C>T (p.Ser1507Phe)
n.1067C>T
c.*1176C>T (n.*1176C>T)
n.5398C>T
c.*2817C>T (n.*2817C>T)
n.4952C>T
n.5097C>T
c.533C>T (p.Ser178Phe)
c.2391C>T
n.5359C>T
c.4616C>T (p.Ser1539Phe)
c.3012C>T
c.4772C>T (p.Ser1591Phe)
c.4676C>T (p.Ser1559Phe)
c.2381C>T (p.Ser794Phe)
c.4799C>T (p.Ser1600Phe)
c.4703C>T (p.Ser1568Phe)
c.4643C>T (p.Ser1548Phe)
c.4547C>T (p.Ser1516Phe)
c.4517C>T (p.Ser1506Phe)
6g.43038613G>CCA3813184CUL7n.2740C>G
c.4520C>G (p.Ser1507Cys)
n.1067C>G
c.*1176C>G (n.*1176C>G)
n.5398C>G
c.*2817C>G (n.*2817C>G)
n.4952C>G
n.5097C>G
c.533C>G (p.Ser178Cys)
c.2391C>G
n.5359C>G
c.4616C>G (p.Ser1539Cys)
c.3012C>G
c.4772C>G (p.Ser1591Cys)
c.4676C>G (p.Ser1559Cys)
c.2381C>G (p.Ser794Cys)
c.4799C>G (p.Ser1600Cys)
c.4703C>G (p.Ser1568Cys)
c.4643C>G (p.Ser1548Cys)
c.4547C>G (p.Ser1516Cys)
c.4517C>G (p.Ser1506Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43038613G=CA1624352807CUL7n.2740C=
c.4520C= (p.Ser1507=)
n.1067C=
c.*1176C= (n.*1176C=)
n.5398C=
c.*2817C= (n.*2817C=)
n.4952C=
n.5097C=
c.533C= (p.Ser178=)
c.2391C=
n.5359C=
c.4616C= (p.Ser1539=)
c.3012C=
c.4772C= (p.Ser1591=)
c.4676C= (p.Ser1559=)
c.2381C= (p.Ser794=)
c.4799C= (p.Ser1600=)
c.4703C= (p.Ser1568=)
c.4643C= (p.Ser1548=)
c.4547C= (p.Ser1516=)
c.4517C= (p.Ser1506=)
6g.43038613G>TCA364189430CUL7n.2740C>A
c.4520C>A (p.Ser1507Tyr)
n.1067C>A
c.*1176C>A (n.*1176C>A)
n.5398C>A
c.*2817C>A (n.*2817C>A)
n.4952C>A
n.5097C>A
c.533C>A (p.Ser178Tyr)
c.2391C>A
n.5359C>A
c.4616C>A (p.Ser1539Tyr)
c.3012C>A
c.4772C>A (p.Ser1591Tyr)
c.4676C>A (p.Ser1559Tyr)
c.2381C>A (p.Ser794Tyr)
c.4799C>A (p.Ser1600Tyr)
c.4703C>A (p.Ser1568Tyr)
c.4643C>A (p.Ser1548Tyr)
c.4547C>A (p.Ser1516Tyr)
c.4517C>A (p.Ser1506Tyr)
6g.43038614A>CCA364189437CUL7n.2739T>G
c.4519T>G (p.Ser1507Ala)
n.1066T>G
c.*1175T>G (n.*1175T>G)
n.5397T>G
c.*2816T>G (n.*2816T>G)
n.4951T>G
n.5096T>G
c.532T>G (p.Ser178Ala)
c.2390T>G
n.5358T>G
c.4615T>G (p.Ser1539Ala)
c.3011T>G
c.4771T>G (p.Ser1591Ala)
c.4675T>G (p.Ser1559Ala)
c.2380T>G (p.Ser794Ala)
c.4798T>G (p.Ser1600Ala)
c.4702T>G (p.Ser1568Ala)
c.4642T>G (p.Ser1548Ala)
c.4546T>G (p.Ser1516Ala)
c.4516T>G (p.Ser1506Ala)
6g.43038614A>GCA364189447CUL7n.2739T>C
c.4519T>C (p.Ser1507Pro)
n.1066T>C
c.*1175T>C (n.*1175T>C)
n.5397T>C
c.*2816T>C (n.*2816T>C)
n.4951T>C
n.5096T>C
c.532T>C (p.Ser178Pro)
c.2390T>C
n.5358T>C
c.4615T>C (p.Ser1539Pro)
c.3011T>C
c.4771T>C (p.Ser1591Pro)
c.4675T>C (p.Ser1559Pro)
c.2380T>C (p.Ser794Pro)
c.4798T>C (p.Ser1600Pro)
c.4702T>C (p.Ser1568Pro)
c.4642T>C (p.Ser1548Pro)
c.4546T>C (p.Ser1516Pro)
c.4516T>C (p.Ser1506Pro)
 gnomAD v4
6g.43038614A>TCA364189453CUL7n.2739T>A
c.4519T>A (p.Ser1507Thr)
n.1066T>A
c.*1175T>A (n.*1175T>A)
n.5397T>A
c.*2816T>A (n.*2816T>A)
n.4951T>A
n.5096T>A
c.532T>A (p.Ser178Thr)
c.2390T>A
n.5358T>A
c.4615T>A (p.Ser1539Thr)
c.3011T>A
c.4771T>A (p.Ser1591Thr)
c.4675T>A (p.Ser1559Thr)
c.2380T>A (p.Ser794Thr)
c.4798T>A (p.Ser1600Thr)
c.4702T>A (p.Ser1568Thr)
c.4642T>A (p.Ser1548Thr)
c.4546T>A (p.Ser1516Thr)
c.4516T>A (p.Ser1506Thr)
6g.43038615G>ACA450369096CUL7n.2738C>T
c.4518C>T (p.Thr1506=)
n.1065C>T
c.*1174C>T (n.*1174C>T)
n.5396C>T
c.*2815C>T (n.*2815C>T)
n.4950C>T
n.5095C>T
c.531C>T (p.Thr177=)
c.2389C>T
n.5357C>T
c.4614C>T (p.Thr1538=)
c.3010C>T
c.4770C>T (p.Thr1590=)
c.4674C>T (p.Thr1558=)
c.2379C>T (p.Thr793=)
c.4797C>T (p.Thr1599=)
c.4701C>T (p.Thr1567=)
c.4641C>T (p.Thr1547=)
c.4545C>T (p.Thr1515=)
c.4515C>T (p.Thr1505=)
 COSMIC COSMIC
6g.43038615G>CCA3813185CUL7n.2738C>G
c.4518C>G (p.Thr1506=)
n.1065C>G
c.*1174C>G (n.*1174C>G)
n.5396C>G
c.*2815C>G (n.*2815C>G)
n.4950C>G
n.5095C>G
c.531C>G (p.Thr177=)
c.2389C>G
n.5357C>G
c.4614C>G (p.Thr1538=)
c.3010C>G
c.4770C>G (p.Thr1590=)
c.4674C>G (p.Thr1558=)
c.2379C>G (p.Thr793=)
c.4797C>G (p.Thr1599=)
c.4701C>G (p.Thr1567=)
c.4641C>G (p.Thr1547=)
c.4545C>G (p.Thr1515=)
c.4515C>G (p.Thr1505=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038615G=CA1624352808CUL7n.2738C=
c.4518C= (p.Thr1506=)
n.1065C=
c.*1174C= (n.*1174C=)
n.5396C=
c.*2815C= (n.*2815C=)
n.4950C=
n.5095C=
c.531C= (p.Thr177=)
c.2389C=
n.5357C=
c.4614C= (p.Thr1538=)
c.3010C=
c.4770C= (p.Thr1590=)
c.4674C= (p.Thr1558=)
c.2379C= (p.Thr793=)
c.4797C= (p.Thr1599=)
c.4701C= (p.Thr1567=)
c.4641C= (p.Thr1547=)
c.4545C= (p.Thr1515=)
c.4515C= (p.Thr1505=)
6g.43038615G>TCA450369099CUL7n.2738C>A
c.4518C>A (p.Thr1506=)
n.1065C>A
c.*1174C>A (n.*1174C>A)
n.5396C>A
c.*2815C>A (n.*2815C>A)
n.4950C>A
n.5095C>A
c.531C>A (p.Thr177=)
c.2389C>A
n.5357C>A
c.4614C>A (p.Thr1538=)
c.3010C>A
c.4770C>A (p.Thr1590=)
c.4674C>A (p.Thr1558=)
c.2379C>A (p.Thr793=)
c.4797C>A (p.Thr1599=)
c.4701C>A (p.Thr1567=)
c.4641C>A (p.Thr1547=)
c.4545C>A (p.Thr1515=)
c.4515C>A (p.Thr1505=)
 dbSNP gnomAD v2
6g.43038616G>ACA364189462CUL7n.2737C>T
c.4517C>T (p.Thr1506Ile)
n.1064C>T
c.*1173C>T (n.*1173C>T)
n.5395C>T
c.*2814C>T (n.*2814C>T)
n.4949C>T
n.5094C>T
c.530C>T (p.Thr177Ile)
c.2388C>T
n.5356C>T
c.4613C>T (p.Thr1538Ile)
c.3009C>T
c.4769C>T (p.Thr1590Ile)
c.4673C>T (p.Thr1558Ile)
c.2378C>T (p.Thr793Ile)
c.4796C>T (p.Thr1599Ile)
c.4700C>T (p.Thr1567Ile)
c.4640C>T (p.Thr1547Ile)
c.4544C>T (p.Thr1515Ile)
c.4514C>T (p.Thr1505Ile)
6g.43038616G>CCA364189465CUL7n.2737C>G
c.4517C>G (p.Thr1506Ser)
n.1064C>G
c.*1173C>G (n.*1173C>G)
n.5395C>G
c.*2814C>G (n.*2814C>G)
n.4949C>G
n.5094C>G
c.530C>G (p.Thr177Ser)
c.2388C>G
n.5356C>G
c.4613C>G (p.Thr1538Ser)
c.3009C>G
c.4769C>G (p.Thr1590Ser)
c.4673C>G (p.Thr1558Ser)
c.2378C>G (p.Thr793Ser)
c.4796C>G (p.Thr1599Ser)
c.4700C>G (p.Thr1567Ser)
c.4640C>G (p.Thr1547Ser)
c.4544C>G (p.Thr1515Ser)
c.4514C>G (p.Thr1505Ser)
 gnomAD v4
6g.43038616G>TCA364189466CUL7n.2737C>A
c.4517C>A (p.Thr1506Asn)
n.1064C>A
c.*1173C>A (n.*1173C>A)
n.5395C>A
c.*2814C>A (n.*2814C>A)
n.4949C>A
n.5094C>A
c.530C>A (p.Thr177Asn)
c.2388C>A
n.5356C>A
c.4613C>A (p.Thr1538Asn)
c.3009C>A
c.4769C>A (p.Thr1590Asn)
c.4673C>A (p.Thr1558Asn)
c.2378C>A (p.Thr793Asn)
c.4796C>A (p.Thr1599Asn)
c.4700C>A (p.Thr1567Asn)
c.4640C>A (p.Thr1547Asn)
c.4544C>A (p.Thr1515Asn)
c.4514C>A (p.Thr1505Asn)
6g.43038617T>ACA364189469CUL7n.2736A>T
c.4516A>T (p.Thr1506Ser)
n.1063A>T
c.*1172A>T (n.*1172A>T)
n.5394A>T
c.*2813A>T (n.*2813A>T)
n.4948A>T
n.5093A>T
c.529A>T (p.Thr177Ser)
c.2387A>T
n.5355A>T
c.4612A>T (p.Thr1538Ser)
c.3008A>T
c.4768A>T (p.Thr1590Ser)
c.4672A>T (p.Thr1558Ser)
c.2377A>T (p.Thr793Ser)
c.4795A>T (p.Thr1599Ser)
c.4699A>T (p.Thr1567Ser)
c.4639A>T (p.Thr1547Ser)
c.4543A>T (p.Thr1515Ser)
c.4513A>T (p.Thr1505Ser)
6g.43038617T>CCA364189472CUL7n.2736A>G
c.4516A>G (p.Thr1506Ala)
n.1063A>G
c.*1172A>G (n.*1172A>G)
n.5394A>G
c.*2813A>G (n.*2813A>G)
n.4948A>G
n.5093A>G
c.529A>G (p.Thr177Ala)
c.2387A>G
n.5355A>G
c.4612A>G (p.Thr1538Ala)
c.3008A>G
c.4768A>G (p.Thr1590Ala)
c.4672A>G (p.Thr1558Ala)
c.2377A>G (p.Thr793Ala)
c.4795A>G (p.Thr1599Ala)
c.4699A>G (p.Thr1567Ala)
c.4639A>G (p.Thr1547Ala)
c.4543A>G (p.Thr1515Ala)
c.4513A>G (p.Thr1505Ala)
 gnomAD v4
6g.43038617T>GCA364189475CUL7n.2736A>C
c.4516A>C (p.Thr1506Pro)
n.1063A>C
c.*1172A>C (n.*1172A>C)
n.5394A>C
c.*2813A>C (n.*2813A>C)
n.4948A>C
n.5093A>C
c.529A>C (p.Thr177Pro)
c.2387A>C
n.5355A>C
c.4612A>C (p.Thr1538Pro)
c.3008A>C
c.4768A>C (p.Thr1590Pro)
c.4672A>C (p.Thr1558Pro)
c.2377A>C (p.Thr793Pro)
c.4795A>C (p.Thr1599Pro)
c.4699A>C (p.Thr1567Pro)
c.4639A>C (p.Thr1547Pro)
c.4543A>C (p.Thr1515Pro)
c.4513A>C (p.Thr1505Pro)
6g.43038618G>ACA450369100CUL7n.2735C>T
c.4515C>T (p.Leu1505=)
n.1062C>T
c.*1171C>T (n.*1171C>T)
n.5393C>T
c.*2812C>T (n.*2812C>T)
n.4947C>T
n.5092C>T
c.528C>T (p.Leu176=)
c.2386C>T
n.5354C>T
c.4611C>T (p.Leu1537=)
c.3007C>T
c.4767C>T (p.Leu1589=)
c.4671C>T (p.Leu1557=)
c.2376C>T (p.Leu792=)
c.4794C>T (p.Leu1598=)
c.4698C>T (p.Leu1566=)
c.4638C>T (p.Leu1546=)
c.4542C>T (p.Leu1514=)
c.4512C>T (p.Leu1504=)
 ClinVar dbSNP
6g.43038618G>CCA450369102CUL7n.2735C>G
c.4515C>G (p.Leu1505=)
n.1062C>G
c.*1171C>G (n.*1171C>G)
n.5393C>G
c.*2812C>G (n.*2812C>G)
n.4947C>G
n.5092C>G
c.528C>G (p.Leu176=)
c.2386C>G
n.5354C>G
c.4611C>G (p.Leu1537=)
c.3007C>G
c.4767C>G (p.Leu1589=)
c.4671C>G (p.Leu1557=)
c.2376C>G (p.Leu792=)
c.4794C>G (p.Leu1598=)
c.4698C>G (p.Leu1566=)
c.4638C>G (p.Leu1546=)
c.4542C>G (p.Leu1514=)
c.4512C>G (p.Leu1504=)
6g.43038618G>TCA450369101CUL7n.2735C>A
c.4515C>A (p.Leu1505=)
n.1062C>A
c.*1171C>A (n.*1171C>A)
n.5393C>A
c.*2812C>A (n.*2812C>A)
n.4947C>A
n.5092C>A
c.528C>A (p.Leu176=)
c.2386C>A
n.5354C>A
c.4611C>A (p.Leu1537=)
c.3007C>A
c.4767C>A (p.Leu1589=)
c.4671C>A (p.Leu1557=)
c.2376C>A (p.Leu792=)
c.4794C>A (p.Leu1598=)
c.4698C>A (p.Leu1566=)
c.4638C>A (p.Leu1546=)
c.4542C>A (p.Leu1514=)
c.4512C>A (p.Leu1504=)
6g.43038619_43038620delCA2770832189CUL7n.2734_2735del
c.4514_4515del (p.Leu1505HisfsTer?)
n.1061_1062del
c.*1170_*1171del (n.*1170_*1171del)
n.5392_5393del
c.*2811_*2812del (n.*2811_*2812del)
n.4946_4947del
n.5091_5092del
c.527_528del (p.Leu176HisfsTer?)
c.2385_2386del
n.5353_5354del
c.4610_4611del (p.Leu1537HisfsTer?)
c.3006_3007del
c.4766_4767del (p.Leu1589HisfsTer?)
c.4670_4671del (p.Leu1557HisfsTer?)
c.2375_2376del (p.Leu792HisfsTer?)
c.4793_4794del (p.Leu1598HisfsTer?)
c.4697_4698del (p.Leu1566HisfsTer?)
c.4637_4638del (p.Leu1546HisfsTer?)
c.4541_4542del (p.Leu1514HisfsTer?)
c.4511_4512del (p.Leu1504HisfsTer?)
6g.43038619A>CCA364189477CUL7n.2734T>G
c.4514T>G (p.Leu1505Arg)
n.1061T>G
c.*1170T>G (n.*1170T>G)
n.5392T>G
c.*2811T>G (n.*2811T>G)
n.4946T>G
n.5091T>G
c.527T>G (p.Leu176Arg)
c.2385T>G
n.5353T>G
c.4610T>G (p.Leu1537Arg)
c.3006T>G
c.4766T>G (p.Leu1589Arg)
c.4670T>G (p.Leu1557Arg)
c.2375T>G (p.Leu792Arg)
c.4793T>G (p.Leu1598Arg)
c.4697T>G (p.Leu1566Arg)
c.4637T>G (p.Leu1546Arg)
c.4541T>G (p.Leu1514Arg)
c.4511T>G (p.Leu1504Arg)
6g.43038619A>GCA364189480CUL7n.2734T>C
c.4514T>C (p.Leu1505Pro)
n.1061T>C
c.*1170T>C (n.*1170T>C)
n.5392T>C
c.*2811T>C (n.*2811T>C)
n.4946T>C
n.5091T>C
c.527T>C (p.Leu176Pro)
c.2385T>C
n.5353T>C
c.4610T>C (p.Leu1537Pro)
c.3006T>C
c.4766T>C (p.Leu1589Pro)
c.4670T>C (p.Leu1557Pro)
c.2375T>C (p.Leu792Pro)
c.4793T>C (p.Leu1598Pro)
c.4697T>C (p.Leu1566Pro)
c.4637T>C (p.Leu1546Pro)
c.4541T>C (p.Leu1514Pro)
c.4511T>C (p.Leu1504Pro)
6g.43038619A>TCA364189481CUL7n.2734T>A
c.4514T>A (p.Leu1505His)
n.1061T>A
c.*1170T>A (n.*1170T>A)
n.5392T>A
c.*2811T>A (n.*2811T>A)
n.4946T>A
n.5091T>A
c.527T>A (p.Leu176His)
c.2385T>A
n.5353T>A
c.4610T>A (p.Leu1537His)
c.3006T>A
c.4766T>A (p.Leu1589His)
c.4670T>A (p.Leu1557His)
c.2375T>A (p.Leu792His)
c.4793T>A (p.Leu1598His)
c.4697T>A (p.Leu1566His)
c.4637T>A (p.Leu1546His)
c.4541T>A (p.Leu1514His)
c.4511T>A (p.Leu1504His)
6g.43038620G>ACA364189491CUL7n.2733C>T
c.4513C>T (p.Leu1505Phe)
n.1060C>T
c.*1169C>T (n.*1169C>T)
n.5391C>T
c.*2810C>T (n.*2810C>T)
n.4945C>T
n.5090C>T
c.526C>T (p.Leu176Phe)
c.2384C>T
n.5352C>T
c.4609C>T (p.Leu1537Phe)
c.3005C>T
c.4765C>T (p.Leu1589Phe)
c.4669C>T (p.Leu1557Phe)
c.2374C>T (p.Leu792Phe)
c.4792C>T (p.Leu1598Phe)
c.4696C>T (p.Leu1566Phe)
c.4636C>T (p.Leu1546Phe)
c.4540C>T (p.Leu1514Phe)
c.4510C>T (p.Leu1504Phe)
6g.43038620G>CCA364189510CUL7n.2733C>G
c.4513C>G (p.Leu1505Val)
n.1060C>G
c.*1169C>G (n.*1169C>G)
n.5391C>G
c.*2810C>G (n.*2810C>G)
n.4945C>G
n.5090C>G
c.526C>G (p.Leu176Val)
c.2384C>G
n.5352C>G
c.4609C>G (p.Leu1537Val)
c.3005C>G
c.4765C>G (p.Leu1589Val)
c.4669C>G (p.Leu1557Val)
c.2374C>G (p.Leu792Val)
c.4792C>G (p.Leu1598Val)
c.4696C>G (p.Leu1566Val)
c.4636C>G (p.Leu1546Val)
c.4540C>G (p.Leu1514Val)
c.4510C>G (p.Leu1504Val)
6g.43038620G>TCA364189506CUL7n.2733C>A
c.4513C>A (p.Leu1505Ile)
n.1060C>A
c.*1169C>A (n.*1169C>A)
n.5391C>A
c.*2810C>A (n.*2810C>A)
n.4945C>A
n.5090C>A
c.526C>A (p.Leu176Ile)
c.2384C>A
n.5352C>A
c.4609C>A (p.Leu1537Ile)
c.3005C>A
c.4765C>A (p.Leu1589Ile)
c.4669C>A (p.Leu1557Ile)
c.2374C>A (p.Leu792Ile)
c.4792C>A (p.Leu1598Ile)
c.4696C>A (p.Leu1566Ile)
c.4636C>A (p.Leu1546Ile)
c.4540C>A (p.Leu1514Ile)
c.4510C>A (p.Leu1504Ile)
6g.43038621G>ACA3813186CUL7n.2732C>T
c.4512C>T (p.Pro1504=)
n.1059C>T
c.*1168C>T (n.*1168C>T)
n.5390C>T
c.*2809C>T (n.*2809C>T)
n.4944C>T
n.5089C>T
c.525C>T (p.Pro175=)
c.2383C>T
n.5351C>T
c.4608C>T (p.Pro1536=)
c.3004C>T
c.4764C>T (p.Pro1588=)
c.4668C>T (p.Pro1556=)
c.2373C>T (p.Pro791=)
c.4791C>T (p.Pro1597=)
c.4695C>T (p.Pro1565=)
c.4635C>T (p.Pro1545=)
c.4539C>T (p.Pro1513=)
c.4509C>T (p.Pro1503=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038621G>CCA450369107CUL7n.2732C>G
c.4512C>G (p.Pro1504=)
n.1059C>G
c.*1168C>G (n.*1168C>G)
n.5390C>G
c.*2809C>G (n.*2809C>G)
n.4944C>G
n.5089C>G
c.525C>G (p.Pro175=)
c.2383C>G
n.5351C>G
c.4608C>G (p.Pro1536=)
c.3004C>G
c.4764C>G (p.Pro1588=)
c.4668C>G (p.Pro1556=)
c.2373C>G (p.Pro791=)
c.4791C>G (p.Pro1597=)
c.4695C>G (p.Pro1565=)
c.4635C>G (p.Pro1545=)
c.4539C>G (p.Pro1513=)
c.4509C>G (p.Pro1503=)
6g.43038621G=CA1624352809CUL7n.2732C=
c.4512C= (p.Pro1504=)
n.1059C=
c.*1168C= (n.*1168C=)
n.5390C=
c.*2809C= (n.*2809C=)
n.4944C=
n.5089C=
c.525C= (p.Pro175=)
c.2383C=
n.5351C=
c.4608C= (p.Pro1536=)
c.3004C=
c.4764C= (p.Pro1588=)
c.4668C= (p.Pro1556=)
c.2373C= (p.Pro791=)
c.4791C= (p.Pro1597=)
c.4695C= (p.Pro1565=)
c.4635C= (p.Pro1545=)
c.4539C= (p.Pro1513=)
c.4509C= (p.Pro1503=)
6g.43038621G>TCA450369109CUL7n.2732C>A
c.4512C>A (p.Pro1504=)
n.1059C>A
c.*1168C>A (n.*1168C>A)
n.5390C>A
c.*2809C>A (n.*2809C>A)
n.4944C>A
n.5089C>A
c.525C>A (p.Pro175=)
c.2383C>A
n.5351C>A
c.4608C>A (p.Pro1536=)
c.3004C>A
c.4764C>A (p.Pro1588=)
c.4668C>A (p.Pro1556=)
c.2373C>A (p.Pro791=)
c.4791C>A (p.Pro1597=)
c.4695C>A (p.Pro1565=)
c.4635C>A (p.Pro1545=)
c.4539C>A (p.Pro1513=)
c.4509C>A (p.Pro1503=)
6g.43038622G>ACA364189523CUL7n.2731C>T
c.4511C>T (p.Pro1504Leu)
n.1058C>T
c.*1167C>T (n.*1167C>T)
n.5389C>T
c.*2808C>T (n.*2808C>T)
n.4943C>T
n.5088C>T
c.524C>T (p.Pro175Leu)
c.2382C>T
n.5350C>T
c.4607C>T (p.Pro1536Leu)
c.3003C>T
c.4763C>T (p.Pro1588Leu)
c.4667C>T (p.Pro1556Leu)
c.2372C>T (p.Pro791Leu)
c.4790C>T (p.Pro1597Leu)
c.4694C>T (p.Pro1565Leu)
c.4634C>T (p.Pro1545Leu)
c.4538C>T (p.Pro1513Leu)
c.4508C>T (p.Pro1503Leu)
6g.43038622G>CCA364189526CUL7n.2731C>G
c.4511C>G (p.Pro1504Arg)
n.1058C>G
c.*1167C>G (n.*1167C>G)
n.5389C>G
c.*2808C>G (n.*2808C>G)
n.4943C>G
n.5088C>G
c.524C>G (p.Pro175Arg)
c.2382C>G
n.5350C>G
c.4607C>G (p.Pro1536Arg)
c.3003C>G
c.4763C>G (p.Pro1588Arg)
c.4667C>G (p.Pro1556Arg)
c.2372C>G (p.Pro791Arg)
c.4790C>G (p.Pro1597Arg)
c.4694C>G (p.Pro1565Arg)
c.4634C>G (p.Pro1545Arg)
c.4538C>G (p.Pro1513Arg)
c.4508C>G (p.Pro1503Arg)
6g.43038622G>TCA364189529CUL7n.2731C>A
c.4511C>A (p.Pro1504His)
n.1058C>A
c.*1167C>A (n.*1167C>A)
n.5389C>A
c.*2808C>A (n.*2808C>A)
n.4943C>A
n.5088C>A
c.524C>A (p.Pro175His)
c.2382C>A
n.5350C>A
c.4607C>A (p.Pro1536His)
c.3003C>A
c.4763C>A (p.Pro1588His)
c.4667C>A (p.Pro1556His)
c.2372C>A (p.Pro791His)
c.4790C>A (p.Pro1597His)
c.4694C>A (p.Pro1565His)
c.4634C>A (p.Pro1545His)
c.4538C>A (p.Pro1513His)
c.4508C>A (p.Pro1503His)
6g.43038623G>ACA364189555CUL7n.2730C>T
c.4510C>T (p.Pro1504Ser)
n.1057C>T
c.*1166C>T (n.*1166C>T)
n.5388C>T
c.*2807C>T (n.*2807C>T)
n.4942C>T
n.5087C>T
c.523C>T (p.Pro175Ser)
c.2381C>T
n.5349C>T
c.4606C>T (p.Pro1536Ser)
c.3002C>T
c.4762C>T (p.Pro1588Ser)
c.4666C>T (p.Pro1556Ser)
c.2371C>T (p.Pro791Ser)
c.4789C>T (p.Pro1597Ser)
c.4693C>T (p.Pro1565Ser)
c.4633C>T (p.Pro1545Ser)
c.4537C>T (p.Pro1513Ser)
c.4507C>T (p.Pro1503Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.43038623G>CCA364189558CUL7n.2730C>G
c.4510C>G (p.Pro1504Ala)
n.1057C>G
c.*1166C>G (n.*1166C>G)
n.5388C>G
c.*2807C>G (n.*2807C>G)
n.4942C>G
n.5087C>G
c.523C>G (p.Pro175Ala)
c.2381C>G
n.5349C>G
c.4606C>G (p.Pro1536Ala)
c.3002C>G
c.4762C>G (p.Pro1588Ala)
c.4666C>G (p.Pro1556Ala)
c.2371C>G (p.Pro791Ala)
c.4789C>G (p.Pro1597Ala)
c.4693C>G (p.Pro1565Ala)
c.4633C>G (p.Pro1545Ala)
c.4537C>G (p.Pro1513Ala)
c.4507C>G (p.Pro1503Ala)
6g.43038623G=CA1624352810CUL7n.2730C=
c.4510C= (p.Pro1504=)
n.1057C=
c.*1166C= (n.*1166C=)
n.5388C=
c.*2807C= (n.*2807C=)
n.4942C=
n.5087C=
c.523C= (p.Pro175=)
c.2381C=
n.5349C=
c.4606C= (p.Pro1536=)
c.3002C=
c.4762C= (p.Pro1588=)
c.4666C= (p.Pro1556=)
c.2371C= (p.Pro791=)
c.4789C= (p.Pro1597=)
c.4693C= (p.Pro1565=)
c.4633C= (p.Pro1545=)
c.4537C= (p.Pro1513=)
c.4507C= (p.Pro1503=)
6g.43038623G>TCA364189573CUL7n.2730C>A
c.4510C>A (p.Pro1504Thr)
n.1057C>A
c.*1166C>A (n.*1166C>A)
n.5388C>A
c.*2807C>A (n.*2807C>A)
n.4942C>A
n.5087C>A
c.523C>A (p.Pro175Thr)
c.2381C>A
n.5349C>A
c.4606C>A (p.Pro1536Thr)
c.3002C>A
c.4762C>A (p.Pro1588Thr)
c.4666C>A (p.Pro1556Thr)
c.2371C>A (p.Pro791Thr)
c.4789C>A (p.Pro1597Thr)
c.4693C>A (p.Pro1565Thr)
c.4633C>A (p.Pro1545Thr)
c.4537C>A (p.Pro1513Thr)
c.4507C>A (p.Pro1503Thr)
6g.43038624C>ACA450369112CUL7n.2729G>T
c.4509G>T (p.Gly1503=)
n.1056G>T
c.*1165G>T (n.*1165G>T)
n.5387G>T
c.*2806G>T (n.*2806G>T)
n.4941G>T
n.5086G>T
c.522G>T (p.Gly174=)
c.2380G>T
n.5348G>T
c.4605G>T (p.Gly1535=)
c.3001G>T
c.4761G>T (p.Gly1587=)
c.4665G>T (p.Gly1555=)
c.2370G>T (p.Gly790=)
c.4788G>T (p.Gly1596=)
c.4692G>T (p.Gly1564=)
c.4632G>T (p.Gly1544=)
c.4536G>T (p.Gly1512=)
c.4506G>T (p.Gly1502=)
6g.43038624C>GCA450369113CUL7n.2729G>C
c.4509G>C (p.Gly1503=)
n.1056G>C
c.*1165G>C (n.*1165G>C)
n.5387G>C
c.*2806G>C (n.*2806G>C)
n.4941G>C
n.5086G>C
c.522G>C (p.Gly174=)
c.2380G>C
n.5348G>C
c.4605G>C (p.Gly1535=)
c.3001G>C
c.4761G>C (p.Gly1587=)
c.4665G>C (p.Gly1555=)
c.2370G>C (p.Gly790=)
c.4788G>C (p.Gly1596=)
c.4692G>C (p.Gly1564=)
c.4632G>C (p.Gly1544=)
c.4536G>C (p.Gly1512=)
c.4506G>C (p.Gly1502=)
6g.43038624C>TCA450369116CUL7n.2729G>A
c.4509G>A (p.Gly1503=)
n.1056G>A
c.*1165G>A (n.*1165G>A)
n.5387G>A
c.*2806G>A (n.*2806G>A)
n.4941G>A
n.5086G>A
c.522G>A (p.Gly174=)
c.2380G>A
n.5348G>A
c.4605G>A (p.Gly1535=)
c.3001G>A
c.4761G>A (p.Gly1587=)
c.4665G>A (p.Gly1555=)
c.2370G>A (p.Gly790=)
c.4788G>A (p.Gly1596=)
c.4692G>A (p.Gly1564=)
c.4632G>A (p.Gly1544=)
c.4536G>A (p.Gly1512=)
c.4506G>A (p.Gly1502=)
6g.43038625C>ACA364189575CUL7n.2728G>T
c.4508G>T (p.Gly1503Val)
n.1055G>T
c.*1164G>T (n.*1164G>T)
n.5386G>T
c.*2805G>T (n.*2805G>T)
n.4940G>T
n.5085G>T
c.521G>T (p.Gly174Val)
c.2379G>T
n.5347G>T
c.4604G>T (p.Gly1535Val)
c.3000G>T
c.4760G>T (p.Gly1587Val)
c.4664G>T (p.Gly1555Val)
c.2369G>T (p.Gly790Val)
c.4787G>T (p.Gly1596Val)
c.4691G>T (p.Gly1564Val)
c.4631G>T (p.Gly1544Val)
c.4535G>T (p.Gly1512Val)
c.4505G>T (p.Gly1502Val)
6g.43038625C>GCA364189576CUL7n.2728G>C
c.4508G>C (p.Gly1503Ala)
n.1055G>C
c.*1164G>C (n.*1164G>C)
n.5386G>C
c.*2805G>C (n.*2805G>C)
n.4940G>C
n.5085G>C
c.521G>C (p.Gly174Ala)
c.2379G>C
n.5347G>C
c.4604G>C (p.Gly1535Ala)
c.3000G>C
c.4760G>C (p.Gly1587Ala)
c.4664G>C (p.Gly1555Ala)
c.2369G>C (p.Gly790Ala)
c.4787G>C (p.Gly1596Ala)
c.4691G>C (p.Gly1564Ala)
c.4631G>C (p.Gly1544Ala)
c.4535G>C (p.Gly1512Ala)
c.4505G>C (p.Gly1502Ala)
6g.43038625C>TCA364189577CUL7n.2728G>A
c.4508G>A (p.Gly1503Glu)
n.1055G>A
c.*1164G>A (n.*1164G>A)
n.5386G>A
c.*2805G>A (n.*2805G>A)
n.4940G>A
n.5085G>A
c.521G>A (p.Gly174Glu)
c.2379G>A
n.5347G>A
c.4604G>A (p.Gly1535Glu)
c.3000G>A
c.4760G>A (p.Gly1587Glu)
c.4664G>A (p.Gly1555Glu)
c.2369G>A (p.Gly790Glu)
c.4787G>A (p.Gly1596Glu)
c.4691G>A (p.Gly1564Glu)
c.4631G>A (p.Gly1544Glu)
c.4535G>A (p.Gly1512Glu)
c.4505G>A (p.Gly1502Glu)
 gnomAD v4
6g.43038626C>ACA364189591CUL7n.2727G>T
c.4507G>T (p.Gly1503Trp)
n.1054G>T
c.*1163G>T (n.*1163G>T)
n.5385G>T
c.*2804G>T (n.*2804G>T)
n.4939G>T
n.5084G>T
c.520G>T (p.Gly174Trp)
c.2378G>T
n.5346G>T
c.4603G>T (p.Gly1535Trp)
c.2999G>T
c.4759G>T (p.Gly1587Trp)
c.4663G>T (p.Gly1555Trp)
c.2368G>T (p.Gly790Trp)
c.4786G>T (p.Gly1596Trp)
c.4690G>T (p.Gly1564Trp)
c.4630G>T (p.Gly1544Trp)
c.4534G>T (p.Gly1512Trp)
c.4504G>T (p.Gly1502Trp)
6g.43038626C=CA1624352811CUL7n.2727G=
c.4507G= (p.Gly1503=)
n.1054G=
c.*1163G= (n.*1163G=)
n.5385G=
c.*2804G= (n.*2804G=)
n.4939G=
n.5084G=
c.520G= (p.Gly174=)
c.2378G=
n.5346G=
c.4603G= (p.Gly1535=)
c.2999G=
c.4759G= (p.Gly1587=)
c.4663G= (p.Gly1555=)
c.2368G= (p.Gly790=)
c.4786G= (p.Gly1596=)
c.4690G= (p.Gly1564=)
c.4630G= (p.Gly1544=)
c.4534G= (p.Gly1512=)
c.4504G= (p.Gly1502=)
6g.43038626C>GCA364189589CUL7n.2727G>C
c.4507G>C (p.Gly1503Arg)
n.1054G>C
c.*1163G>C (n.*1163G>C)
n.5385G>C
c.*2804G>C (n.*2804G>C)
n.4939G>C
n.5084G>C
c.520G>C (p.Gly174Arg)
c.2378G>C
n.5346G>C
c.4603G>C (p.Gly1535Arg)
c.2999G>C
c.4759G>C (p.Gly1587Arg)
c.4663G>C (p.Gly1555Arg)
c.2368G>C (p.Gly790Arg)
c.4786G>C (p.Gly1596Arg)
c.4690G>C (p.Gly1564Arg)
c.4630G>C (p.Gly1544Arg)
c.4534G>C (p.Gly1512Arg)
c.4504G>C (p.Gly1502Arg)
6g.43038626C>TCA364189583CUL7n.2727G>A
c.4507G>A (p.Gly1503Arg)
n.1054G>A
c.*1163G>A (n.*1163G>A)
n.5385G>A
c.*2804G>A (n.*2804G>A)
n.4939G>A
n.5084G>A
c.520G>A (p.Gly174Arg)
c.2378G>A
n.5346G>A
c.4603G>A (p.Gly1535Arg)
c.2999G>A
c.4759G>A (p.Gly1587Arg)
c.4663G>A (p.Gly1555Arg)
c.2368G>A (p.Gly790Arg)
c.4786G>A (p.Gly1596Arg)
c.4690G>A (p.Gly1564Arg)
c.4630G>A (p.Gly1544Arg)
c.4534G>A (p.Gly1512Arg)
c.4504G>A (p.Gly1502Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.43038627A>CCA364189594CUL7n.2726T>G
c.4506T>G (p.Ile1502Met)
n.1053T>G
c.*1162T>G (n.*1162T>G)
n.5384T>G
c.*2803T>G (n.*2803T>G)
n.4938T>G
n.5083T>G
c.519T>G (p.Ile173Met)
c.2377T>G
n.5345T>G
c.4602T>G (p.Ile1534Met)
c.2998T>G
c.4758T>G (p.Ile1586Met)
c.4662T>G (p.Ile1554Met)
c.2367T>G (p.Ile789Met)
c.4785T>G (p.Ile1595Met)
c.4689T>G (p.Ile1563Met)
c.4629T>G (p.Ile1543Met)
c.4533T>G (p.Ile1511Met)
c.4503T>G (p.Ile1501Met)
6g.43038627A>GCA450369118CUL7n.2726T>C
c.4506T>C (p.Ile1502=)
n.1053T>C
c.*1162T>C (n.*1162T>C)
n.5384T>C
c.*2803T>C (n.*2803T>C)
n.4938T>C
n.5083T>C
c.519T>C (p.Ile173=)
c.2377T>C
n.5345T>C
c.4602T>C (p.Ile1534=)
c.2998T>C
c.4758T>C (p.Ile1586=)
c.4662T>C (p.Ile1554=)
c.2367T>C (p.Ile789=)
c.4785T>C (p.Ile1595=)
c.4689T>C (p.Ile1563=)
c.4629T>C (p.Ile1543=)
c.4533T>C (p.Ile1511=)
c.4503T>C (p.Ile1501=)
6g.43038627A>TCA450369120CUL7n.2726T>A
c.4506T>A (p.Ile1502=)
n.1053T>A
c.*1162T>A (n.*1162T>A)
n.5384T>A
c.*2803T>A (n.*2803T>A)
n.4938T>A
n.5083T>A
c.519T>A (p.Ile173=)
c.2377T>A
n.5345T>A
c.4602T>A (p.Ile1534=)
c.2998T>A
c.4758T>A (p.Ile1586=)
c.4662T>A (p.Ile1554=)
c.2367T>A (p.Ile789=)
c.4785T>A (p.Ile1595=)
c.4689T>A (p.Ile1563=)
c.4629T>A (p.Ile1543=)
c.4533T>A (p.Ile1511=)
c.4503T>A (p.Ile1501=)
6g.43038628A=CA1624352812CUL7n.2725T=
c.4505T= (p.Ile1502=)
n.1052T=
c.*1161T= (n.*1161T=)
n.5383T=
c.*2802T= (n.*2802T=)
n.4937T=
n.5082T=
c.518T= (p.Ile173=)
c.2376T=
n.5344T=
c.4601T= (p.Ile1534=)
c.2997T=
c.4757T= (p.Ile1586=)
c.4661T= (p.Ile1554=)
c.2366T= (p.Ile789=)
c.4784T= (p.Ile1595=)
c.4688T= (p.Ile1563=)
c.4628T= (p.Ile1543=)
c.4532T= (p.Ile1511=)
c.4502T= (p.Ile1501=)
6g.43038628A>CCA364189620CUL7n.2725T>G
c.4505T>G (p.Ile1502Ser)
n.1052T>G
c.*1161T>G (n.*1161T>G)
n.5383T>G
c.*2802T>G (n.*2802T>G)
n.4937T>G
n.5082T>G
c.518T>G (p.Ile173Ser)
c.2376T>G
n.5344T>G
c.4601T>G (p.Ile1534Ser)
c.2997T>G
c.4757T>G (p.Ile1586Ser)
c.4661T>G (p.Ile1554Ser)
c.2366T>G (p.Ile789Ser)
c.4784T>G (p.Ile1595Ser)
c.4688T>G (p.Ile1563Ser)
c.4628T>G (p.Ile1543Ser)
c.4532T>G (p.Ile1511Ser)
c.4502T>G (p.Ile1501Ser)
6g.43038628A>GCA364189599CUL7n.2725T>C
c.4505T>C (p.Ile1502Thr)
n.1052T>C
c.*1161T>C (n.*1161T>C)
n.5383T>C
c.*2802T>C (n.*2802T>C)
n.4937T>C
n.5082T>C
c.518T>C (p.Ile173Thr)
c.2376T>C
n.5344T>C
c.4601T>C (p.Ile1534Thr)
c.2997T>C
c.4757T>C (p.Ile1586Thr)
c.4661T>C (p.Ile1554Thr)
c.2366T>C (p.Ile789Thr)
c.4784T>C (p.Ile1595Thr)
c.4688T>C (p.Ile1563Thr)
c.4628T>C (p.Ile1543Thr)
c.4532T>C (p.Ile1511Thr)
c.4502T>C (p.Ile1501Thr)
 dbSNP
6g.43038628A>TCA364189616CUL7n.2725T>A
c.4505T>A (p.Ile1502Asn)
n.1052T>A
c.*1161T>A (n.*1161T>A)
n.5383T>A
c.*2802T>A (n.*2802T>A)
n.4937T>A
n.5082T>A
c.518T>A (p.Ile173Asn)
c.2376T>A
n.5344T>A
c.4601T>A (p.Ile1534Asn)
c.2997T>A
c.4757T>A (p.Ile1586Asn)
c.4661T>A (p.Ile1554Asn)
c.2366T>A (p.Ile789Asn)
c.4784T>A (p.Ile1595Asn)
c.4688T>A (p.Ile1563Asn)
c.4628T>A (p.Ile1543Asn)
c.4532T>A (p.Ile1511Asn)
c.4502T>A (p.Ile1501Asn)
6g.43038629T>ACA364189628CUL7n.2724A>T
c.4504A>T (p.Ile1502Phe)
n.1051A>T
c.*1160A>T (n.*1160A>T)
n.5382A>T
c.*2801A>T (n.*2801A>T)
n.4936A>T
n.5081A>T
c.517A>T (p.Ile173Phe)
c.2375A>T
n.5343A>T
c.4600A>T (p.Ile1534Phe)
c.2996A>T
c.4756A>T (p.Ile1586Phe)
c.4660A>T (p.Ile1554Phe)
c.2365A>T (p.Ile789Phe)
c.4783A>T (p.Ile1595Phe)
c.4687A>T (p.Ile1563Phe)
c.4627A>T (p.Ile1543Phe)
c.4531A>T (p.Ile1511Phe)
c.4501A>T (p.Ile1501Phe)
 ClinVar dbSNP
6g.43038629T>CCA364189641CUL7n.2724A>G
c.4504A>G (p.Ile1502Val)
n.1051A>G
c.*1160A>G (n.*1160A>G)
n.5382A>G
c.*2801A>G (n.*2801A>G)
n.4936A>G
n.5081A>G
c.517A>G (p.Ile173Val)
c.2375A>G
n.5343A>G
c.4600A>G (p.Ile1534Val)
c.2996A>G
c.4756A>G (p.Ile1586Val)
c.4660A>G (p.Ile1554Val)
c.2365A>G (p.Ile789Val)
c.4783A>G (p.Ile1595Val)
c.4687A>G (p.Ile1563Val)
c.4627A>G (p.Ile1543Val)
c.4531A>G (p.Ile1511Val)
c.4501A>G (p.Ile1501Val)
6g.43038629T>GCA364189644CUL7n.2724A>C
c.4504A>C (p.Ile1502Leu)
n.1051A>C
c.*1160A>C (n.*1160A>C)
n.5382A>C
c.*2801A>C (n.*2801A>C)
n.4936A>C
n.5081A>C
c.517A>C (p.Ile173Leu)
c.2375A>C
n.5343A>C
c.4600A>C (p.Ile1534Leu)
c.2996A>C
c.4756A>C (p.Ile1586Leu)
c.4660A>C (p.Ile1554Leu)
c.2365A>C (p.Ile789Leu)
c.4783A>C (p.Ile1595Leu)
c.4687A>C (p.Ile1563Leu)
c.4627A>C (p.Ile1543Leu)
c.4531A>C (p.Ile1511Leu)
c.4501A>C (p.Ile1501Leu)
6g.43038629T=CA1624352813CUL7n.2724A=
c.4504A= (p.Ile1502=)
n.1051A=
c.*1160A= (n.*1160A=)
n.5382A=
c.*2801A= (n.*2801A=)
n.4936A=
n.5081A=
c.517A= (p.Ile173=)
c.2375A=
n.5343A=
c.4600A= (p.Ile1534=)
c.2996A=
c.4756A= (p.Ile1586=)
c.4660A= (p.Ile1554=)
c.2365A= (p.Ile789=)
c.4783A= (p.Ile1595=)
c.4687A= (p.Ile1563=)
c.4627A= (p.Ile1543=)
c.4531A= (p.Ile1511=)
c.4501A= (p.Ile1501=)
6g.43038630C>ACA450369124CUL7n.2723G>T
c.4503G>T (p.Ala1501=)
n.1050G>T
c.*1159G>T (n.*1159G>T)
n.5381G>T
c.*2800G>T (n.*2800G>T)
n.4935G>T
n.5080G>T
c.516G>T (p.Ala172=)
c.2374G>T
n.5342G>T
c.4599G>T (p.Ala1533=)
c.2995G>T
c.4755G>T (p.Ala1585=)
c.4659G>T (p.Ala1553=)
c.2364G>T (p.Ala788=)
c.4782G>T (p.Ala1594=)
c.4686G>T (p.Ala1562=)
c.4626G>T (p.Ala1542=)
c.4530G>T (p.Ala1510=)
c.4500G>T (p.Ala1500=)
6g.43038630C=CA1624352814CUL7n.2723G=
c.4503G= (p.Ala1501=)
n.1050G=
c.*1159G= (n.*1159G=)
n.5381G=
c.*2800G= (n.*2800G=)
n.4935G=
n.5080G=
c.516G= (p.Ala172=)
c.2374G=
n.5342G=
c.4599G= (p.Ala1533=)
c.2995G=
c.4755G= (p.Ala1585=)
c.4659G= (p.Ala1553=)
c.2364G= (p.Ala788=)
c.4782G= (p.Ala1594=)
c.4686G= (p.Ala1562=)
c.4626G= (p.Ala1542=)
c.4530G= (p.Ala1510=)
c.4500G= (p.Ala1500=)
6g.43038630C>GCA450369126CUL7n.2723G>C
c.4503G>C (p.Ala1501=)
n.1050G>C
c.*1159G>C (n.*1159G>C)
n.5381G>C
c.*2800G>C (n.*2800G>C)
n.4935G>C
n.5080G>C
c.516G>C (p.Ala172=)
c.2374G>C
n.5342G>C
c.4599G>C (p.Ala1533=)
c.2995G>C
c.4755G>C (p.Ala1585=)
c.4659G>C (p.Ala1553=)
c.2364G>C (p.Ala788=)
c.4782G>C (p.Ala1594=)
c.4686G>C (p.Ala1562=)
c.4626G>C (p.Ala1542=)
c.4530G>C (p.Ala1510=)
c.4500G>C (p.Ala1500=)
6g.43038630C>TCA450369125CUL7n.2723G>A
c.4503G>A (p.Ala1501=)
n.1050G>A
c.*1159G>A (n.*1159G>A)
n.5381G>A
c.*2800G>A (n.*2800G>A)
n.4935G>A
n.5080G>A
c.516G>A (p.Ala172=)
c.2374G>A
n.5342G>A
c.4599G>A (p.Ala1533=)
c.2995G>A
c.4755G>A (p.Ala1585=)
c.4659G>A (p.Ala1553=)
c.2364G>A (p.Ala788=)
c.4782G>A (p.Ala1594=)
c.4686G>A (p.Ala1562=)
c.4626G>A (p.Ala1542=)
c.4530G>A (p.Ala1510=)
c.4500G>A (p.Ala1500=)
 dbSNP gnomAD v3 gnomAD v4
6g.43038630_43038631insAGGCGATTGGCA2678803974CUL7n.2722_2723insCCAATCGCCT
c.4502_4503insCCAATCGCCT (p.Ile1502GlnfsTer?)
n.1049_1050insCCAATCGCCT
c.*1158_*1159insCCAATCGCCT (n.*1158_*1159insCCAATCGCCT)
n.5380_5381insCCAATCGCCT
c.*2799_*2800insCCAATCGCCT (n.*2799_*2800insCCAATCGCCT)
n.4934_4935insCCAATCGCCT
n.5079_5080insCCAATCGCCT
c.515_516insCCAATCGCCT (p.Ile173GlnfsTer?)
c.2373_2374insCCAATCGCCT
n.5341_5342insCCAATCGCCT
c.4598_4599insCCAATCGCCT (p.Ile1534GlnfsTer?)
c.2994_2995insCCAATCGCCT
c.4754_4755insCCAATCGCCT (p.Ile1586GlnfsTer?)
c.4658_4659insCCAATCGCCT (p.Ile1554GlnfsTer?)
c.2363_2364insCCAATCGCCT (p.Ile789GlnfsTer?)
c.4781_4782insCCAATCGCCT (p.Ile1595GlnfsTer?)
c.4685_4686insCCAATCGCCT (p.Ile1563GlnfsTer?)
c.4625_4626insCCAATCGCCT (p.Ile1543GlnfsTer?)
c.4529_4530insCCAATCGCCT (p.Ile1511GlnfsTer?)
c.4499_4500insCCAATCGCCT (p.Ile1501GlnfsTer?)
 gnomAD v4
6g.43038631G>ACA3813187CUL7n.2722C>T
c.4502C>T (p.Ala1501Val)
n.1049C>T
c.*1158C>T (n.*1158C>T)
n.5380C>T
c.*2799C>T (n.*2799C>T)
n.4934C>T
n.5079C>T
c.515C>T (p.Ala172Val)
c.2373C>T
n.5341C>T
c.4598C>T (p.Ala1533Val)
c.2994C>T
c.4754C>T (p.Ala1585Val)
c.4658C>T (p.Ala1553Val)
c.2363C>T (p.Ala788Val)
c.4781C>T (p.Ala1594Val)
c.4685C>T (p.Ala1562Val)
c.4625C>T (p.Ala1542Val)
c.4529C>T (p.Ala1510Val)
c.4499C>T (p.Ala1500Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038631G>CCA364189656CUL7n.2722C>G
c.4502C>G (p.Ala1501Gly)
n.1049C>G
c.*1158C>G (n.*1158C>G)
n.5380C>G
c.*2799C>G (n.*2799C>G)
n.4934C>G
n.5079C>G
c.515C>G (p.Ala172Gly)
c.2373C>G
n.5341C>G
c.4598C>G (p.Ala1533Gly)
c.2994C>G
c.4754C>G (p.Ala1585Gly)
c.4658C>G (p.Ala1553Gly)
c.2363C>G (p.Ala788Gly)
c.4781C>G (p.Ala1594Gly)
c.4685C>G (p.Ala1562Gly)
c.4625C>G (p.Ala1542Gly)
c.4529C>G (p.Ala1510Gly)
c.4499C>G (p.Ala1500Gly)
6g.43038631G=CA1624352815CUL7n.2722C=
c.4502C= (p.Ala1501=)
n.1049C=
c.*1158C= (n.*1158C=)
n.5380C=
c.*2799C= (n.*2799C=)
n.4934C=
n.5079C=
c.515C= (p.Ala172=)
c.2373C=
n.5341C=
c.4598C= (p.Ala1533=)
c.2994C=
c.4754C= (p.Ala1585=)
c.4658C= (p.Ala1553=)
c.2363C= (p.Ala788=)
c.4781C= (p.Ala1594=)
c.4685C= (p.Ala1562=)
c.4625C= (p.Ala1542=)
c.4529C= (p.Ala1510=)
c.4499C= (p.Ala1500=)
6g.43038631G>TCA364189663CUL7n.2722C>A
c.4502C>A (p.Ala1501Glu)
n.1049C>A
c.*1158C>A (n.*1158C>A)
n.5380C>A
c.*2799C>A (n.*2799C>A)
n.4934C>A
n.5079C>A
c.515C>A (p.Ala172Glu)
c.2373C>A
n.5341C>A
c.4598C>A (p.Ala1533Glu)
c.2994C>A
c.4754C>A (p.Ala1585Glu)
c.4658C>A (p.Ala1553Glu)
c.2363C>A (p.Ala788Glu)
c.4781C>A (p.Ala1594Glu)
c.4685C>A (p.Ala1562Glu)
c.4625C>A (p.Ala1542Glu)
c.4529C>A (p.Ala1510Glu)
c.4499C>A (p.Ala1500Glu)
6g.43038632C>ACA364189664CUL7n.2721G>T
c.4501G>T (p.Ala1501Ser)
n.1048G>T
c.*1157G>T (n.*1157G>T)
n.5379G>T
c.*2798G>T (n.*2798G>T)
n.4933G>T
n.5078G>T
c.514G>T (p.Ala172Ser)
c.2372G>T
n.5340G>T
c.4597G>T (p.Ala1533Ser)
c.2993G>T
c.4753G>T (p.Ala1585Ser)
c.4657G>T (p.Ala1553Ser)
c.2362G>T (p.Ala788Ser)
c.4780G>T (p.Ala1594Ser)
c.4684G>T (p.Ala1562Ser)
c.4624G>T (p.Ala1542Ser)
c.4528G>T (p.Ala1510Ser)
c.4498G>T (p.Ala1500Ser)
6g.43038632C>GCA364189669CUL7n.2721G>C
c.4501G>C (p.Ala1501Pro)
n.1048G>C
c.*1157G>C (n.*1157G>C)
n.5379G>C
c.*2798G>C (n.*2798G>C)
n.4933G>C
n.5078G>C
c.514G>C (p.Ala172Pro)
c.2372G>C
n.5340G>C
c.4597G>C (p.Ala1533Pro)
c.2993G>C
c.4753G>C (p.Ala1585Pro)
c.4657G>C (p.Ala1553Pro)
c.2362G>C (p.Ala788Pro)
c.4780G>C (p.Ala1594Pro)
c.4684G>C (p.Ala1562Pro)
c.4624G>C (p.Ala1542Pro)
c.4528G>C (p.Ala1510Pro)
c.4498G>C (p.Ala1500Pro)
6g.43038632C>TCA364189665CUL7n.2721G>A
c.4501G>A (p.Ala1501Thr)
n.1048G>A
c.*1157G>A (n.*1157G>A)
n.5379G>A
c.*2798G>A (n.*2798G>A)
n.4933G>A
n.5078G>A
c.514G>A (p.Ala172Thr)
c.2372G>A
n.5340G>A
c.4597G>A (p.Ala1533Thr)
c.2993G>A
c.4753G>A (p.Ala1585Thr)
c.4657G>A (p.Ala1553Thr)
c.2362G>A (p.Ala788Thr)
c.4780G>A (p.Ala1594Thr)
c.4684G>A (p.Ala1562Thr)
c.4624G>A (p.Ala1542Thr)
c.4528G>A (p.Ala1510Thr)
c.4498G>A (p.Ala1500Thr)
6g.43038633C>ACA364189676CUL7n.2720G>T
c.4500G>T (p.Gln1500His)
n.1047G>T
c.*1156G>T (n.*1156G>T)
n.5378G>T
c.*2797G>T (n.*2797G>T)
n.4932G>T
n.5077G>T
c.513G>T (p.Gln171His)
c.2371G>T
n.5339G>T
c.4596G>T (p.Gln1532His)
c.2992G>T
c.4752G>T (p.Gln1584His)
c.4656G>T (p.Gln1552His)
c.2361G>T (p.Gln787His)
c.4779G>T (p.Gln1593His)
c.4683G>T (p.Gln1561His)
c.4623G>T (p.Gln1541His)
c.4527G>T (p.Gln1509His)
c.4497G>T (p.Gln1499His)
6g.43038633C>GCA364189681CUL7n.2720G>C
c.4500G>C (p.Gln1500His)
n.1047G>C
c.*1156G>C (n.*1156G>C)
n.5378G>C
c.*2797G>C (n.*2797G>C)
n.4932G>C
n.5077G>C
c.513G>C (p.Gln171His)
c.2371G>C
n.5339G>C
c.4596G>C (p.Gln1532His)
c.2992G>C
c.4752G>C (p.Gln1584His)
c.4656G>C (p.Gln1552His)
c.2361G>C (p.Gln787His)
c.4779G>C (p.Gln1593His)
c.4683G>C (p.Gln1561His)
c.4623G>C (p.Gln1541His)
c.4527G>C (p.Gln1509His)
c.4497G>C (p.Gln1499His)
6g.43038633C>TCA450369132CUL7n.2720G>A
c.4500G>A (p.Gln1500=)
n.1047G>A
c.*1156G>A (n.*1156G>A)
n.5378G>A
c.*2797G>A (n.*2797G>A)
n.4932G>A
n.5077G>A
c.513G>A (p.Gln171=)
c.2371G>A
n.5339G>A
c.4596G>A (p.Gln1532=)
c.2992G>A
c.4752G>A (p.Gln1584=)
c.4656G>A (p.Gln1552=)
c.2361G>A (p.Gln787=)
c.4779G>A (p.Gln1593=)
c.4683G>A (p.Gln1561=)
c.4623G>A (p.Gln1541=)
c.4527G>A (p.Gln1509=)
c.4497G>A (p.Gln1499=)
6g.43038634T>ACA364189688CUL7n.2719A>T
c.4499A>T (p.Gln1500Leu)
n.1046A>T
c.*1155A>T (n.*1155A>T)
n.5377A>T
c.*2796A>T (n.*2796A>T)
n.4931A>T
n.5076A>T
c.512A>T (p.Gln171Leu)
c.2370A>T
n.5338A>T
c.4595A>T (p.Gln1532Leu)
c.2991A>T
c.4751A>T (p.Gln1584Leu)
c.4655A>T (p.Gln1552Leu)
c.2360A>T (p.Gln787Leu)
c.4778A>T (p.Gln1593Leu)
c.4682A>T (p.Gln1561Leu)
c.4622A>T (p.Gln1541Leu)
c.4526A>T (p.Gln1509Leu)
c.4496A>T (p.Gln1499Leu)
6g.43038634T>CCA364189708CUL7n.2719A>G
c.4499A>G (p.Gln1500Arg)
n.1046A>G
c.*1155A>G (n.*1155A>G)
n.5377A>G
c.*2796A>G (n.*2796A>G)
n.4931A>G
n.5076A>G
c.512A>G (p.Gln171Arg)
c.2370A>G
n.5338A>G
c.4595A>G (p.Gln1532Arg)
c.2991A>G
c.4751A>G (p.Gln1584Arg)
c.4655A>G (p.Gln1552Arg)
c.2360A>G (p.Gln787Arg)
c.4778A>G (p.Gln1593Arg)
c.4682A>G (p.Gln1561Arg)
c.4622A>G (p.Gln1541Arg)
c.4526A>G (p.Gln1509Arg)
c.4496A>G (p.Gln1499Arg)
6g.43038634T>GCA364189711CUL7n.2719A>C
c.4499A>C (p.Gln1500Pro)
n.1046A>C
c.*1155A>C (n.*1155A>C)
n.5377A>C
c.*2796A>C (n.*2796A>C)
n.4931A>C
n.5076A>C
c.512A>C (p.Gln171Pro)
c.2370A>C
n.5338A>C
c.4595A>C (p.Gln1532Pro)
c.2991A>C
c.4751A>C (p.Gln1584Pro)
c.4655A>C (p.Gln1552Pro)
c.2360A>C (p.Gln787Pro)
c.4778A>C (p.Gln1593Pro)
c.4682A>C (p.Gln1561Pro)
c.4622A>C (p.Gln1541Pro)
c.4526A>C (p.Gln1509Pro)
c.4496A>C (p.Gln1499Pro)
6g.43038635G>ACA364189714CUL7n.2718C>T
c.4498C>T (p.Gln1500Ter)
n.1045C>T
c.*1154C>T (n.*1154C>T)
n.5376C>T
c.*2795C>T (n.*2795C>T)
n.4930C>T
n.5075C>T
c.511C>T (p.Gln171Ter)
c.2369C>T
n.5337C>T
c.4594C>T (p.Gln1532Ter)
c.2990C>T
c.4750C>T (p.Gln1584Ter)
c.4654C>T (p.Gln1552Ter)
c.2359C>T (p.Gln787Ter)
c.4777C>T (p.Gln1593Ter)
c.4681C>T (p.Gln1561Ter)
c.4621C>T (p.Gln1541Ter)
c.4525C>T (p.Gln1509Ter)
c.4495C>T (p.Gln1499Ter)
6g.43038635G>CCA364189724CUL7n.2718C>G
c.4498C>G (p.Gln1500Glu)
n.1045C>G
c.*1154C>G (n.*1154C>G)
n.5376C>G
c.*2795C>G (n.*2795C>G)
n.4930C>G
n.5075C>G
c.511C>G (p.Gln171Glu)
c.2369C>G
n.5337C>G
c.4594C>G (p.Gln1532Glu)
c.2990C>G
c.4750C>G (p.Gln1584Glu)
c.4654C>G (p.Gln1552Glu)
c.2359C>G (p.Gln787Glu)
c.4777C>G (p.Gln1593Glu)
c.4681C>G (p.Gln1561Glu)
c.4621C>G (p.Gln1541Glu)
c.4525C>G (p.Gln1509Glu)
c.4495C>G (p.Gln1499Glu)
 gnomAD v4
6g.43038635G>TCA364189717CUL7n.2718C>A
c.4498C>A (p.Gln1500Lys)
n.1045C>A
c.*1154C>A (n.*1154C>A)
n.5376C>A
c.*2795C>A (n.*2795C>A)
n.4930C>A
n.5075C>A
c.511C>A (p.Gln171Lys)
c.2369C>A
n.5337C>A
c.4594C>A (p.Gln1532Lys)
c.2990C>A
c.4750C>A (p.Gln1584Lys)
c.4654C>A (p.Gln1552Lys)
c.2359C>A (p.Gln787Lys)
c.4777C>A (p.Gln1593Lys)
c.4681C>A (p.Gln1561Lys)
c.4621C>A (p.Gln1541Lys)
c.4525C>A (p.Gln1509Lys)
c.4495C>A (p.Gln1499Lys)
6g.43038636A=CA1624352816CUL7n.2717T=
c.4497T= (p.Asn1499=)
n.1044T=
c.*1153T= (n.*1153T=)
n.5375T=
c.*2794T= (n.*2794T=)
n.4929T=
n.5074T=
c.510T= (p.Asn170=)
c.2368T=
n.5336T=
c.4593T= (p.Asn1531=)
c.2989T=
c.4749T= (p.Asn1583=)
c.4653T= (p.Asn1551=)
c.2358T= (p.Asn786=)
c.4776T= (p.Asn1592=)
c.4680T= (p.Asn1560=)
c.4620T= (p.Asn1540=)
c.4524T= (p.Asn1508=)
c.4494T= (p.Asn1498=)
6g.43038636A>CCA364189730CUL7n.2717T>G
c.4497T>G (p.Asn1499Lys)
n.1044T>G
c.*1153T>G (n.*1153T>G)
n.5375T>G
c.*2794T>G (n.*2794T>G)
n.4929T>G
n.5074T>G
c.510T>G (p.Asn170Lys)
c.2368T>G
n.5336T>G
c.4593T>G (p.Asn1531Lys)
c.2989T>G
c.4749T>G (p.Asn1583Lys)
c.4653T>G (p.Asn1551Lys)
c.2358T>G (p.Asn786Lys)
c.4776T>G (p.Asn1592Lys)
c.4680T>G (p.Asn1560Lys)
c.4620T>G (p.Asn1540Lys)
c.4524T>G (p.Asn1508Lys)
c.4494T>G (p.Asn1498Lys)
6g.43038636A>GCA450369136CUL7n.2717T>C
c.4497T>C (p.Asn1499=)
n.1044T>C
c.*1153T>C (n.*1153T>C)
n.5375T>C
c.*2794T>C (n.*2794T>C)
n.4929T>C
n.5074T>C
c.510T>C (p.Asn170=)
c.2368T>C
n.5336T>C
c.4593T>C (p.Asn1531=)
c.2989T>C
c.4749T>C (p.Asn1583=)
c.4653T>C (p.Asn1551=)
c.2358T>C (p.Asn786=)
c.4776T>C (p.Asn1592=)
c.4680T>C (p.Asn1560=)
c.4620T>C (p.Asn1540=)
c.4524T>C (p.Asn1508=)
c.4494T>C (p.Asn1498=)
6g.43038636A>TCA364189733CUL7n.2717T>A
c.4497T>A (p.Asn1499Lys)
n.1044T>A
c.*1153T>A (n.*1153T>A)
n.5375T>A
c.*2794T>A (n.*2794T>A)
n.4929T>A
n.5074T>A
c.510T>A (p.Asn170Lys)
c.2368T>A
n.5336T>A
c.4593T>A (p.Asn1531Lys)
c.2989T>A
c.4749T>A (p.Asn1583Lys)
c.4653T>A (p.Asn1551Lys)
c.2358T>A (p.Asn786Lys)
c.4776T>A (p.Asn1592Lys)
c.4680T>A (p.Asn1560Lys)
c.4620T>A (p.Asn1540Lys)
c.4524T>A (p.Asn1508Lys)
c.4494T>A (p.Asn1498Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.43038637T>ACA364189739CUL7n.2716A>T
c.4496A>T (p.Asn1499Ile)
n.1043A>T
c.*1152A>T (n.*1152A>T)
n.5374A>T
c.*2793A>T (n.*2793A>T)
n.4928A>T
n.5073A>T
c.509A>T (p.Asn170Ile)
c.2367A>T
n.5335A>T
c.4592A>T (p.Asn1531Ile)
c.2988A>T
c.4748A>T (p.Asn1583Ile)
c.4652A>T (p.Asn1551Ile)
c.2357A>T (p.Asn786Ile)
c.4775A>T (p.Asn1592Ile)
c.4679A>T (p.Asn1560Ile)
c.4619A>T (p.Asn1540Ile)
c.4523A>T (p.Asn1508Ile)
c.4493A>T (p.Asn1498Ile)
6g.43038637T>CCA364189741CUL7n.2716A>G
c.4496A>G (p.Asn1499Ser)
n.1043A>G
c.*1152A>G (n.*1152A>G)
n.5374A>G
c.*2793A>G (n.*2793A>G)
n.4928A>G
n.5073A>G
c.509A>G (p.Asn170Ser)
c.2367A>G
n.5335A>G
c.4592A>G (p.Asn1531Ser)
c.2988A>G
c.4748A>G (p.Asn1583Ser)
c.4652A>G (p.Asn1551Ser)
c.2357A>G (p.Asn786Ser)
c.4775A>G (p.Asn1592Ser)
c.4679A>G (p.Asn1560Ser)
c.4619A>G (p.Asn1540Ser)
c.4523A>G (p.Asn1508Ser)
c.4493A>G (p.Asn1498Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.43038637T>GCA364189743CUL7n.2716A>C
c.4496A>C (p.Asn1499Thr)
n.1043A>C
c.*1152A>C (n.*1152A>C)
n.5374A>C
c.*2793A>C (n.*2793A>C)
n.4928A>C
n.5073A>C
c.509A>C (p.Asn170Thr)
c.2367A>C
n.5335A>C
c.4592A>C (p.Asn1531Thr)
c.2988A>C
c.4748A>C (p.Asn1583Thr)
c.4652A>C (p.Asn1551Thr)
c.2357A>C (p.Asn786Thr)
c.4775A>C (p.Asn1592Thr)
c.4679A>C (p.Asn1560Thr)
c.4619A>C (p.Asn1540Thr)
c.4523A>C (p.Asn1508Thr)
c.4493A>C (p.Asn1498Thr)
6g.43038637T=CA1624352817CUL7n.2716A=
c.4496A= (p.Asn1499=)
n.1043A=
c.*1152A= (n.*1152A=)
n.5374A=
c.*2793A= (n.*2793A=)
n.4928A=
n.5073A=
c.509A= (p.Asn170=)
c.2367A=
n.5335A=
c.4592A= (p.Asn1531=)
c.2988A=
c.4748A= (p.Asn1583=)
c.4652A= (p.Asn1551=)
c.2357A= (p.Asn786=)
c.4775A= (p.Asn1592=)
c.4679A= (p.Asn1560=)
c.4619A= (p.Asn1540=)
c.4523A= (p.Asn1508=)
c.4493A= (p.Asn1498=)
6g.43038638T>ACA364189747CUL7n.2715A>T
c.4495A>T (p.Asn1499Tyr)
n.1042A>T
c.*1151A>T (n.*1151A>T)
n.5373A>T
c.*2792A>T (n.*2792A>T)
n.4927A>T
n.5072A>T
c.508A>T (p.Asn170Tyr)
c.2366A>T
n.5334A>T
c.4591A>T (p.Asn1531Tyr)
c.2987A>T
c.4747A>T (p.Asn1583Tyr)
c.4651A>T (p.Asn1551Tyr)
c.2356A>T (p.Asn786Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4678A>T (p.Asn1560Tyr)
c.4618A>T (p.Asn1540Tyr)
c.4522A>T (p.Asn1508Tyr)
c.4492A>T (p.Asn1498Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.43038638T>CCA364189752CUL7n.2715A>G
c.4495A>G (p.Asn1499Asp)
n.1042A>G
c.*1151A>G (n.*1151A>G)
n.5373A>G
c.*2792A>G (n.*2792A>G)
n.4927A>G
n.5072A>G
c.508A>G (p.Asn170Asp)
c.2366A>G
n.5334A>G
c.4591A>G (p.Asn1531Asp)
c.2987A>G
c.4747A>G (p.Asn1583Asp)
c.4651A>G (p.Asn1551Asp)
c.2356A>G (p.Asn786Asp)
c.4774A>G (p.Asn1592Asp)
c.4678A>G (p.Asn1560Asp)
c.4618A>G (p.Asn1540Asp)
c.4522A>G (p.Asn1508Asp)
c.4492A>G (p.Asn1498Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43038638T>GCA364189759CUL7n.2715A>C
c.4495A>C (p.Asn1499His)
n.1042A>C
c.*1151A>C (n.*1151A>C)
n.5373A>C
c.*2792A>C (n.*2792A>C)
n.4927A>C
n.5072A>C
c.508A>C (p.Asn170His)
c.2366A>C
n.5334A>C
c.4591A>C (p.Asn1531His)
c.2987A>C
c.4747A>C (p.Asn1583His)
c.4651A>C (p.Asn1551His)
c.2356A>C (p.Asn786His)
c.4774A>C (p.Asn1592His)
c.4678A>C (p.Asn1560His)
c.4618A>C (p.Asn1540His)
c.4522A>C (p.Asn1508His)
c.4492A>C (p.Asn1498His)
6g.43038638T=CA1624352818CUL7n.2715A=
c.4495A= (p.Asn1499=)
n.1042A=
c.*1151A= (n.*1151A=)
n.5373A=
c.*2792A= (n.*2792A=)
n.4927A=
n.5072A=
c.508A= (p.Asn170=)
c.2366A=
n.5334A=
c.4591A= (p.Asn1531=)
c.2987A=
c.4747A= (p.Asn1583=)
c.4651A= (p.Asn1551=)
c.2356A= (p.Asn786=)
c.4774A= (p.Asn1592=)
c.4678A= (p.Asn1560=)
c.4618A= (p.Asn1540=)
c.4522A= (p.Asn1508=)
c.4492A= (p.Asn1498=)
6g.43038638_43038641delCA2678803984CUL7n.2712_2715del
c.4492_4495del (p.Leu1498IlefsTer?)
n.1039_1042del
c.*1148_*1151del (n.*1148_*1151del)
n.5370_5373del
c.*2789_*2792del (n.*2789_*2792del)
n.4924_4927del
n.5069_5072del
c.505_508del (p.Leu169IlefsTer?)
c.2363_2366del
n.5331_5334del
c.4588_4591del (p.Leu1530IlefsTer?)
c.2984_2987del
c.4744_4747del (p.Leu1582IlefsTer?)
c.4648_4651del (p.Leu1550IlefsTer?)
c.2353_2356del (p.Leu785IlefsTer?)
c.4771_4774del (p.Leu1591IlefsTer?)
c.4675_4678del (p.Leu1559IlefsTer?)
c.4615_4618del (p.Leu1539IlefsTer?)
c.4519_4522del (p.Leu1507IlefsTer?)
c.4489_4492del (p.Leu1497IlefsTer?)
 gnomAD v4
6g.43038639G>ACA3813188CUL7n.2714C>T
c.4494C>T (p.Leu1498=)
n.1041C>T
c.*1150C>T (n.*1150C>T)
n.5372C>T
c.*2791C>T (n.*2791C>T)
n.4926C>T
n.5071C>T
c.507C>T (p.Leu169=)
c.2365C>T
n.5333C>T
c.4590C>T (p.Leu1530=)
c.2986C>T
c.4746C>T (p.Leu1582=)
c.4650C>T (p.Leu1550=)
c.2355C>T (p.Leu785=)
c.4773C>T (p.Leu1591=)
c.4677C>T (p.Leu1559=)
c.4617C>T (p.Leu1539=)
c.4521C>T (p.Leu1507=)
c.4491C>T (p.Leu1497=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43038639G>CCA450369139CUL7n.2714C>G
c.4494C>G (p.Leu1498=)
n.1041C>G
c.*1150C>G (n.*1150C>G)
n.5372C>G
c.*2791C>G (n.*2791C>G)
n.4926C>G
n.5071C>G
c.507C>G (p.Leu169=)
c.2365C>G
n.5333C>G
c.4590C>G (p.Leu1530=)
c.2986C>G
c.4746C>G (p.Leu1582=)
c.4650C>G (p.Leu1550=)
c.2355C>G (p.Leu785=)
c.4773C>G (p.Leu1591=)
c.4677C>G (p.Leu1559=)
c.4617C>G (p.Leu1539=)
c.4521C>G (p.Leu1507=)
c.4491C>G (p.Leu1497=)
6g.43038639G=CA1624352819CUL7n.2714C=
c.4494C= (p.Leu1498=)
n.1041C=
c.*1150C= (n.*1150C=)
n.5372C=
c.*2791C= (n.*2791C=)
n.4926C=
n.5071C=
c.507C= (p.Leu169=)
c.2365C=
n.5333C=
c.4590C= (p.Leu1530=)
c.2986C=
c.4746C= (p.Leu1582=)
c.4650C= (p.Leu1550=)
c.2355C= (p.Leu785=)
c.4773C= (p.Leu1591=)
c.4677C= (p.Leu1559=)
c.4617C= (p.Leu1539=)
c.4521C= (p.Leu1507=)
c.4491C= (p.Leu1497=)
6g.43038639G>TCA450369138CUL7n.2714C>A
c.4494C>A (p.Leu1498=)
n.1041C>A
c.*1150C>A (n.*1150C>A)
n.5372C>A
c.*2791C>A (n.*2791C>A)
n.4926C>A
n.5071C>A
c.507C>A (p.Leu169=)
c.2365C>A
n.5333C>A
c.4590C>A (p.Leu1530=)
c.2986C>A
c.4746C>A (p.Leu1582=)
c.4650C>A (p.Leu1550=)
c.2355C>A (p.Leu785=)
c.4773C>A (p.Leu1591=)
c.4677C>A (p.Leu1559=)
c.4617C>A (p.Leu1539=)
c.4521C>A (p.Leu1507=)
c.4491C>A (p.Leu1497=)
6g.43038640A=CA1624352820CUL7n.2713T=
c.4493T= (p.Leu1498=)
n.1040T=
c.*1149T= (n.*1149T=)
n.5371T=
c.*2790T= (n.*2790T=)
n.4925T=
n.5070T=
c.506T= (p.Leu169=)
c.2364T=
n.5332T=
c.4589T= (p.Leu1530=)
c.2985T=
c.4745T= (p.Leu1582=)
c.4649T= (p.Leu1550=)
c.2354T= (p.Leu785=)
c.4772T= (p.Leu1591=)
c.4676T= (p.Leu1559=)
c.4616T= (p.Leu1539=)
c.4520T= (p.Leu1507=)
c.4490T= (p.Leu1497=)
6g.43038640A>CCA364189767CUL7n.2713T>G
c.4493T>G (p.Leu1498Arg)
n.1040T>G
c.*1149T>G (n.*1149T>G)
n.5371T>G
c.*2790T>G (n.*2790T>G)
n.4925T>G
n.5070T>G
c.506T>G (p.Leu169Arg)
c.2364T>G
n.5332T>G
c.4589T>G (p.Leu1530Arg)
c.2985T>G
c.4745T>G (p.Leu1582Arg)
c.4649T>G (p.Leu1550Arg)
c.2354T>G (p.Leu785Arg)
c.4772T>G (p.Leu1591Arg)
c.4676T>G (p.Leu1559Arg)
c.4616T>G (p.Leu1539Arg)
c.4520T>G (p.Leu1507Arg)
c.4490T>G (p.Leu1497Arg)
 gnomAD v4
6g.43038640A>GCA364189769CUL7n.2713T>C
c.4493T>C (p.Leu1498Pro)
n.1040T>C
c.*1149T>C (n.*1149T>C)
n.5371T>C
c.*2790T>C (n.*2790T>C)
n.4925T>C
n.5070T>C
c.506T>C (p.Leu169Pro)
c.2364T>C
n.5332T>C
c.4589T>C (p.Leu1530Pro)
c.2985T>C
c.4745T>C (p.Leu1582Pro)
c.4649T>C (p.Leu1550Pro)
c.2354T>C (p.Leu785Pro)
c.4772T>C (p.Leu1591Pro)
c.4676T>C (p.Leu1559Pro)
c.4616T>C (p.Leu1539Pro)
c.4520T>C (p.Leu1507Pro)
c.4490T>C (p.Leu1497Pro)
6g.43038640A>TCA364189773CUL7n.2713T>A
c.4493T>A (p.Leu1498His)
n.1040T>A
c.*1149T>A (n.*1149T>A)
n.5371T>A
c.*2790T>A (n.*2790T>A)
n.4925T>A
n.5070T>A
c.506T>A (p.Leu169His)
c.2364T>A
n.5332T>A
c.4589T>A (p.Leu1530His)
c.2985T>A
c.4745T>A (p.Leu1582His)
c.4649T>A (p.Leu1550His)
c.2354T>A (p.Leu785His)
c.4772T>A (p.Leu1591His)
c.4676T>A (p.Leu1559His)
c.4616T>A (p.Leu1539His)
c.4520T>A (p.Leu1507His)
c.4490T>A (p.Leu1497His)
6g.43038641G>ACA364189780CUL7n.2712C>T
c.4492C>T (p.Leu1498Phe)
n.1039C>T
c.*1148C>T (n.*1148C>T)
n.5370C>T
c.*2789C>T (n.*2789C>T)
n.4924C>T
n.5069C>T
c.505C>T (p.Leu169Phe)
c.2363C>T
n.5331C>T
c.4588C>T (p.Leu1530Phe)
c.2984C>T
c.4744C>T (p.Leu1582Phe)
c.4648C>T (p.Leu1550Phe)
c.2353C>T (p.Leu785Phe)
c.4771C>T (p.Leu1591Phe)
c.4675C>T (p.Leu1559Phe)
c.4615C>T (p.Leu1539Phe)
c.4519C>T (p.Leu1507Phe)
c.4489C>T (p.Leu1497Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.43038641G>CCA364189788CUL7n.2712C>G
c.4492C>G (p.Leu1498Val)
n.1039C>G
c.*1148C>G (n.*1148C>G)
n.5370C>G
c.*2789C>G (n.*2789C>G)
n.4924C>G
n.5069C>G
c.505C>G (p.Leu169Val)
c.2363C>G
n.5331C>G
c.4588C>G (p.Leu1530Val)
c.2984C>G
c.4744C>G (p.Leu1582Val)
c.4648C>G (p.Leu1550Val)
c.2353C>G (p.Leu785Val)
c.4771C>G (p.Leu1591Val)
c.4675C>G (p.Leu1559Val)
c.4615C>G (p.Leu1539Val)
c.4519C>G (p.Leu1507Val)
c.4489C>G (p.Leu1497Val)
 dbSNP gnomAD v4
6g.43038641G=CA1624352821CUL7n.2712C=
c.4492C= (p.Leu1498=)
n.1039C=
c.*1148C= (n.*1148C=)
n.5370C=
c.*2789C= (n.*2789C=)
n.4924C=
n.5069C=
c.505C= (p.Leu169=)
c.2363C=
n.5331C=
c.4588C= (p.Leu1530=)
c.2984C=
c.4744C= (p.Leu1582=)
c.4648C= (p.Leu1550=)
c.2353C= (p.Leu785=)
c.4771C= (p.Leu1591=)
c.4675C= (p.Leu1559=)
c.4615C= (p.Leu1539=)
c.4519C= (p.Leu1507=)
c.4489C= (p.Leu1497=)
6g.43038641G>TCA364189782CUL7n.2712C>A
c.4492C>A (p.Leu1498Ile)
n.1039C>A
c.*1148C>A (n.*1148C>A)
n.5370C>A
c.*2789C>A (n.*2789C>A)
n.4924C>A
n.5069C>A
c.505C>A (p.Leu169Ile)
c.2363C>A
n.5331C>A
c.4588C>A (p.Leu1530Ile)
c.2984C>A
c.4744C>A (p.Leu1582Ile)
c.4648C>A (p.Leu1550Ile)
c.2353C>A (p.Leu785Ile)
c.4771C>A (p.Leu1591Ile)
c.4675C>A (p.Leu1559Ile)
c.4615C>A (p.Leu1539Ile)
c.4519C>A (p.Leu1507Ile)
c.4489C>A (p.Leu1497Ile)
 COSMIC COSMIC
6g.43038642_43038645dupCA567150304CUL7n.2709_2712dup
c.4489_4492dup (p.Leu1498HisfsTer?)
n.1036_1039dup
c.*1145_*1148dup (n.*1145_*1148dup)
n.5367_5370dup
c.*2786_*2789dup (n.*2786_*2789dup)
n.4921_4924dup
n.5066_5069dup
c.502_505dup (p.Leu169HisfsTer?)
c.2360_2363dup
n.5328_5331dup
c.4585_4588dup (p.Leu1530HisfsTer?)
c.2981_2984dup
c.4741_4744dup (p.Leu1582HisfsTer?)
c.4645_4648dup (p.Leu1550HisfsTer?)
c.2350_2353dup (p.Leu785HisfsTer?)
c.4768_4771dup (p.Leu1591HisfsTer?)
c.4672_4675dup (p.Leu1559HisfsTer?)
c.4612_4615dup (p.Leu1539HisfsTer?)
c.4516_4519dup (p.Leu1507HisfsTer?)
c.4486_4489dup (p.Leu1497HisfsTer?)
 dbSNP gnomAD v2 gnomAD v4
6g.43038642C>ACA364189804CUL7n.2711G>T
c.4491G>T (p.Met1497Ile)
n.1038G>T
c.*1147G>T (n.*1147G>T)
n.5369G>T
c.*2788G>T (n.*2788G>T)
n.4923G>T
n.5068G>T
c.504G>T (p.Met168Ile)
c.2362G>T
n.5330G>T
c.4587G>T (p.Met1529Ile)
c.2983G>T
c.4743G>T (p.Met1581Ile)
c.4647G>T (p.Met1549Ile)
c.2352G>T (p.Met784Ile)
c.4770G>T (p.Met1590Ile)
c.4674G>T (p.Met1558Ile)
c.4614G>T (p.Met1538Ile)
c.4518G>T (p.Met1506Ile)
c.4488G>T (p.Met1496Ile)
6g.43038642C=CA1624352822CUL7n.2711G=
c.4491G= (p.Met1497=)
n.1038G=
c.*1147G= (n.*1147G=)
n.5369G=
c.*2788G= (n.*2788G=)
n.4923G=
n.5068G=
c.504G= (p.Met168=)
c.2362G=
n.5330G=
c.4587G= (p.Met1529=)
c.2983G=
c.4743G= (p.Met1581=)
c.4647G= (p.Met1549=)
c.2352G= (p.Met784=)
c.4770G= (p.Met1590=)
c.4674G= (p.Met1558=)
c.4614G= (p.Met1538=)
c.4518G= (p.Met1506=)
c.4488G= (p.Met1496=)
6g.43038642C>GCA364189813CUL7n.2711G>C
c.4491G>C (p.Met1497Ile)
n.1038G>C
c.*1147G>C (n.*1147G>C)
n.5369G>C
c.*2788G>C (n.*2788G>C)
n.4923G>C
n.5068G>C
c.504G>C (p.Met168Ile)
c.2362G>C
n.5330G>C
c.4587G>C (p.Met1529Ile)
c.2983G>C
c.4743G>C (p.Met1581Ile)
c.4647G>C (p.Met1549Ile)
c.2352G>C (p.Met784Ile)
c.4770G>C (p.Met1590Ile)
c.4674G>C (p.Met1558Ile)
c.4614G>C (p.Met1538Ile)
c.4518G>C (p.Met1506Ile)
c.4488G>C (p.Met1496Ile)
6g.43038642C>TCA364189819CUL7n.2711G>A
c.4491G>A (p.Met1497Ile)
n.1038G>A
c.*1147G>A (n.*1147G>A)
n.5369G>A
c.*2788G>A (n.*2788G>A)
n.4923G>A
n.5068G>A
c.504G>A (p.Met168Ile)
c.2362G>A
n.5330G>A
c.4587G>A (p.Met1529Ile)
c.2983G>A
c.4743G>A (p.Met1581Ile)
c.4647G>A (p.Met1549Ile)
c.2352G>A (p.Met784Ile)
c.4770G>A (p.Met1590Ile)
c.4674G>A (p.Met1558Ile)
c.4614G>A (p.Met1538Ile)
c.4518G>A (p.Met1506Ile)
c.4488G>A (p.Met1496Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.43038643A>CCA364189820CUL7n.2710T>G
c.4490T>G (p.Met1497Arg)
n.1037T>G
c.*1146T>G (n.*1146T>G)
n.5368T>G
c.*2787T>G (n.*2787T>G)
n.4922T>G
n.5067T>G
c.503T>G (p.Met168Arg)
c.2361T>G
n.5329T>G
c.4586T>G (p.Met1529Arg)
c.2982T>G
c.4742T>G (p.Met1581Arg)
c.4646T>G (p.Met1549Arg)
c.2351T>G (p.Met784Arg)
c.4769T>G (p.Met1590Arg)
c.4673T>G (p.Met1558Arg)
c.4613T>G (p.Met1538Arg)
c.4517T>G (p.Met1506Arg)
c.4487T>G (p.Met1496Arg)
6g.43038643A>GCA364189821CUL7n.2710T>C
c.4490T>C (p.Met1497Thr)
n.1037T>C
c.*1146T>C (n.*1146T>C)
n.5368T>C
c.*2787T>C (n.*2787T>C)
n.4922T>C
n.5067T>C
c.503T>C (p.Met168Thr)
c.2361T>C
n.5329T>C
c.4586T>C (p.Met1529Thr)
c.2982T>C
c.4742T>C (p.Met1581Thr)
c.4646T>C (p.Met1549Thr)
c.2351T>C (p.Met784Thr)
c.4769T>C (p.Met1590Thr)
c.4673T>C (p.Met1558Thr)
c.4613T>C (p.Met1538Thr)
c.4517T>C (p.Met1506Thr)
c.4487T>C (p.Met1496Thr)
6g.43038643A>TCA364189828CUL7n.2710T>A
c.4490T>A (p.Met1497Lys)
n.1037T>A
c.*1146T>A (n.*1146T>A)
n.5368T>A
c.*2787T>A (n.*2787T>A)
n.4922T>A
n.5067T>A
c.503T>A (p.Met168Lys)
c.2361T>A
n.5329T>A
c.4586T>A (p.Met1529Lys)
c.2982T>A
c.4742T>A (p.Met1581Lys)
c.4646T>A (p.Met1549Lys)
c.2351T>A (p.Met784Lys)
c.4769T>A (p.Met1590Lys)
c.4673T>A (p.Met1558Lys)
c.4613T>A (p.Met1538Lys)
c.4517T>A (p.Met1506Lys)
c.4487T>A (p.Met1496Lys)
6g.43038644T>ACA364189840CUL7n.2709A>T
c.4489A>T (p.Met1497Leu)
n.1036A>T
c.*1145A>T (n.*1145A>T)
n.5367A>T
c.*2786A>T (n.*2786A>T)
n.4921A>T
n.5066A>T
c.502A>T (p.Met168Leu)
c.2360A>T
n.5328A>T
c.4585A>T (p.Met1529Leu)
c.2981A>T
c.4741A>T (p.Met1581Leu)
c.4645A>T (p.Met1549Leu)
c.2350A>T (p.Met784Leu)
c.4768A>T (p.Met1590Leu)
c.4672A>T (p.Met1558Leu)
c.4612A>T (p.Met1538Leu)
c.4516A>T (p.Met1506Leu)
c.4486A>T (p.Met1496Leu)
6g.43038644T>CCA364189829CUL7n.2709A>G
c.4489A>G (p.Met1497Val)
n.1036A>G
c.*1145A>G (n.*1145A>G)
n.5367A>G
c.*2786A>G (n.*2786A>G)
n.4921A>G
n.5066A>G
c.502A>G (p.Met168Val)
c.2360A>G
n.5328A>G
c.4585A>G (p.Met1529Val)
c.2981A>G
c.4741A>G (p.Met1581Val)
c.4645A>G (p.Met1549Val)
c.2350A>G (p.Met784Val)
c.4768A>G (p.Met1590Val)
c.4672A>G (p.Met1558Val)
c.4612A>G (p.Met1538Val)
c.4516A>G (p.Met1506Val)
c.4486A>G (p.Met1496Val)
6g.43038644T>GCA364189834CUL7n.2709A>C
c.4489A>C (p.Met1497Leu)
n.1036A>C
c.*1145A>C (n.*1145A>C)
n.5367A>C
c.*2786A>C (n.*2786A>C)
n.4921A>C
n.5066A>C
c.502A>C (p.Met168Leu)
c.2360A>C
n.5328A>C
c.4585A>C (p.Met1529Leu)
c.2981A>C
c.4741A>C (p.Met1581Leu)
c.4645A>C (p.Met1549Leu)
c.2350A>C (p.Met784Leu)
c.4768A>C (p.Met1590Leu)
c.4672A>C (p.Met1558Leu)
c.4612A>C (p.Met1538Leu)
c.4516A>C (p.Met1506Leu)
c.4486A>C (p.Met1496Leu)
6g.43038645G>ACA450369144CUL7n.2708C>T
c.4488C>T (p.Asp1496=)
n.1035C>T
c.*1144C>T (n.*1144C>T)
n.5366C>T
c.*2785C>T (n.*2785C>T)
n.4920C>T
n.5065C>T
c.501C>T (p.Asp167=)
c.2359C>T
n.5327C>T
c.4584C>T (p.Asp1528=)
c.2980C>T
c.4740C>T (p.Asp1580=)
c.4644C>T (p.Asp1548=)
c.2349C>T (p.Asp783=)
c.4767C>T (p.Asp1589=)
c.4671C>T (p.Asp1557=)
c.4611C>T (p.Asp1537=)
c.4515C>T (p.Asp1505=)
c.4485C>T (p.Asp1495=)
6g.43038645G>CCA364189857CUL7n.2708C>G
c.4488C>G (p.Asp1496Glu)
n.1035C>G
c.*1144C>G (n.*1144C>G)
n.5366C>G
c.*2785C>G (n.*2785C>G)
n.4920C>G
n.5065C>G
c.501C>G (p.Asp167Glu)
c.2359C>G
n.5327C>G
c.4584C>G (p.Asp1528Glu)
c.2980C>G
c.4740C>G (p.Asp1580Glu)
c.4644C>G (p.Asp1548Glu)
c.2349C>G (p.Asp783Glu)
c.4767C>G (p.Asp1589Glu)
c.4671C>G (p.Asp1557Glu)
c.4611C>G (p.Asp1537Glu)
c.4515C>G (p.Asp1505Glu)
c.4485C>G (p.Asp1495Glu)
6g.43038645G>TCA364189867CUL7n.2708C>A
c.4488C>A (p.Asp1496Glu)
n.1035C>A
c.*1144C>A (n.*1144C>A)
n.5366C>A
c.*2785C>A (n.*2785C>A)
n.4920C>A
n.5065C>A
c.501C>A (p.Asp167Glu)
c.2359C>A
n.5327C>A
c.4584C>A (p.Asp1528Glu)
c.2980C>A
c.4740C>A (p.Asp1580Glu)
c.4644C>A (p.Asp1548Glu)
c.2349C>A (p.Asp783Glu)
c.4767C>A (p.Asp1589Glu)
c.4671C>A (p.Asp1557Glu)
c.4611C>A (p.Asp1537Glu)
c.4515C>A (p.Asp1505Glu)
c.4485C>A (p.Asp1495Glu)
 COSMIC COSMIC
6g.43038646T>ACA364189873CUL7n.2707A>T
c.4487A>T (p.Asp1496Val)
n.1034A>T
c.*1143A>T (n.*1143A>T)
n.5365A>T
c.*2784A>T (n.*2784A>T)
n.4919A>T
n.5064A>T
c.500A>T (p.Asp167Val)
c.2358A>T
n.5326A>T
c.4583A>T (p.Asp1528Val)
c.2979A>T
c.4739A>T (p.Asp1580Val)
c.4643A>T (p.Asp1548Val)
c.2348A>T (p.Asp783Val)
c.4766A>T (p.Asp1589Val)
c.4670A>T (p.Asp1557Val)
c.4610A>T (p.Asp1537Val)
c.4514A>T (p.Asp1505Val)
c.4484A>T (p.Asp1495Val)
6g.43038646T>CCA364189874CUL7n.2707A>G
c.4487A>G (p.Asp1496Gly)
n.1034A>G
c.*1143A>G (n.*1143A>G)
n.5365A>G
c.*2784A>G (n.*2784A>G)
n.4919A>G
n.5064A>G
c.500A>G (p.Asp167Gly)
c.2358A>G
n.5326A>G
c.4583A>G (p.Asp1528Gly)
c.2979A>G
c.4739A>G (p.Asp1580Gly)
c.4643A>G (p.Asp1548Gly)
c.2348A>G (p.Asp783Gly)
c.4766A>G (p.Asp1589Gly)
c.4670A>G (p.Asp1557Gly)
c.4610A>G (p.Asp1537Gly)
c.4514A>G (p.Asp1505Gly)
c.4484A>G (p.Asp1495Gly)
6g.43038646T>GCA364189876CUL7n.2707A>C
c.4487A>C (p.Asp1496Ala)
n.1034A>C
c.*1143A>C (n.*1143A>C)
n.5365A>C
c.*2784A>C (n.*2784A>C)
n.4919A>C
n.5064A>C
c.500A>C (p.Asp167Ala)
c.2358A>C
n.5326A>C
c.4583A>C (p.Asp1528Ala)
c.2979A>C
c.4739A>C (p.Asp1580Ala)
c.4643A>C (p.Asp1548Ala)
c.2348A>C (p.Asp783Ala)
c.4766A>C (p.Asp1589Ala)
c.4670A>C (p.Asp1557Ala)
c.4610A>C (p.Asp1537Ala)
c.4514A>C (p.Asp1505Ala)
c.4484A>C (p.Asp1495Ala)
6g.43038647C>ACA364189878CUL7n.2706G>T
c.4486G>T (p.Asp1496Tyr)
n.1033G>T
c.*1142G>T (n.*1142G>T)
n.5364G>T
c.*2783G>T (n.*2783G>T)
n.4918G>T
n.5063G>T
c.499G>T (p.Asp167Tyr)
c.2357G>T
n.5325G>T
c.4582G>T (p.Asp1528Tyr)
c.2978G>T
c.4738G>T (p.Asp1580Tyr)
c.4642G>T (p.Asp1548Tyr)
c.2347G>T (p.Asp783Tyr)
c.4765G>T (p.Asp1589Tyr)
c.4669G>T (p.Asp1557Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4513G>T (p.Asp1505Tyr)
c.4483G>T (p.Asp1495Tyr)
6g.43038647C>GCA364189884CUL7n.2706G>C
c.4486G>C (p.Asp1496His)
n.1033G>C
c.*1142G>C (n.*1142G>C)
n.5364G>C
c.*2783G>C (n.*2783G>C)
n.4918G>C
n.5063G>C
c.499G>C (p.Asp167His)
c.2357G>C
n.5325G>C
c.4582G>C (p.Asp1528His)
c.2978G>C
c.4738G>C (p.Asp1580His)
c.4642G>C (p.Asp1548His)
c.2347G>C (p.Asp783His)
c.4765G>C (p.Asp1589His)
c.4669G>C (p.Asp1557His)
c.4609G>C (p.Asp1537His)
c.4513G>C (p.Asp1505His)
c.4483G>C (p.Asp1495His)
6g.43038647C>TCA364189883CUL7n.2706G>A
c.4486G>A (p.Asp1496Asn)
n.1033G>A
c.*1142G>A (n.*1142G>A)
n.5364G>A
c.*2783G>A (n.*2783G>A)
n.4918G>A
n.5063G>A
c.499G>A (p.Asp167Asn)
c.2357G>A
n.5325G>A
c.4582G>A (p.Asp1528Asn)
c.2978G>A
c.4738G>A (p.Asp1580Asn)
c.4642G>A (p.Asp1548Asn)
c.2347G>A (p.Asp783Asn)
c.4765G>A (p.Asp1589Asn)
c.4669G>A (p.Asp1557Asn)
c.4609G>A (p.Asp1537Asn)
c.4513G>A (p.Asp1505Asn)
c.4483G>A (p.Asp1495Asn)
6g.43038648T>ACA450369152CUL7n.2705A>T
c.4485A>T (p.Ala1495=)
n.1032A>T
c.*1141A>T (n.*1141A>T)
n.5363A>T
c.*2782A>T (n.*2782A>T)
n.4917A>T
n.5062A>T
c.498A>T (p.Ala166=)
c.2356A>T
n.5324A>T
c.4581A>T (p.Ala1527=)
c.2977A>T
c.4737A>T (p.Ala1579=)
c.4641A>T (p.Ala1547=)
c.2346A>T (p.Ala782=)
c.4764A>T (p.Ala1588=)
c.4668A>T (p.Ala1556=)
c.4608A>T (p.Ala1536=)
c.4512A>T (p.Ala1504=)
c.4482A>T (p.Ala1494=)
6g.43038648T>CCA450369153CUL7n.2705A>G
c.4485A>G (p.Ala1495=)
n.1032A>G
c.*1141A>G (n.*1141A>G)
n.5363A>G
c.*2782A>G (n.*2782A>G)
n.4917A>G
n.5062A>G
c.498A>G (p.Ala166=)
c.2356A>G
n.5324A>G
c.4581A>G (p.Ala1527=)
c.2977A>G
c.4737A>G (p.Ala1579=)
c.4641A>G (p.Ala1547=)
c.2346A>G (p.Ala782=)
c.4764A>G (p.Ala1588=)
c.4668A>G (p.Ala1556=)
c.4608A>G (p.Ala1536=)
c.4512A>G (p.Ala1504=)
c.4482A>G (p.Ala1494=)
6g.43038648T>GCA450369154CUL7n.2705A>C
c.4485A>C (p.Ala1495=)
n.1032A>C
c.*1141A>C (n.*1141A>C)
n.5363A>C
c.*2782A>C (n.*2782A>C)
n.4917A>C
n.5062A>C
c.498A>C (p.Ala166=)
c.2356A>C
n.5324A>C
c.4581A>C (p.Ala1527=)
c.2977A>C
c.4737A>C (p.Ala1579=)
c.4641A>C (p.Ala1547=)
c.2346A>C (p.Ala782=)
c.4764A>C (p.Ala1588=)
c.4668A>C (p.Ala1556=)
c.4608A>C (p.Ala1536=)
c.4512A>C (p.Ala1504=)
c.4482A>C (p.Ala1494=)
6g.43038649G>ACA364189886CUL7n.2704C>T
c.4484C>T (p.Ala1495Val)
n.1031C>T
c.*1140C>T (n.*1140C>T)
n.5362C>T
c.*2781C>T (n.*2781C>T)
n.4916C>T
n.5061C>T
c.497C>T (p.Ala166Val)
c.2355C>T
n.5323C>T
c.4580C>T (p.Ala1527Val)
c.2976C>T
c.4736C>T (p.Ala1579Val)
c.4640C>T (p.Ala1547Val)
c.2345C>T (p.Ala782Val)
c.4763C>T (p.Ala1588Val)
c.4667C>T (p.Ala1556Val)
c.4607C>T (p.Ala1536Val)
c.4511C>T (p.Ala1504Val)
c.4481C>T (p.Ala1494Val)
6g.43038649G>CCA364189887CUL7n.2704C>G
c.4484C>G (p.Ala1495Gly)
n.1031C>G
c.*1140C>G (n.*1140C>G)
n.5362C>G
c.*2781C>G (n.*2781C>G)
n.4916C>G
n.5061C>G
c.497C>G (p.Ala166Gly)
c.2355C>G
n.5323C>G
c.4580C>G (p.Ala1527Gly)
c.2976C>G
c.4736C>G (p.Ala1579Gly)
c.4640C>G (p.Ala1547Gly)
c.2345C>G (p.Ala782Gly)
c.4763C>G (p.Ala1588Gly)
c.4667C>G (p.Ala1556Gly)
c.4607C>G (p.Ala1536Gly)
c.4511C>G (p.Ala1504Gly)
c.4481C>G (p.Ala1494Gly)
6g.43038649G>TCA364189889CUL7n.2704C>A
c.4484C>A (p.Ala1495Glu)
n.1031C>A
c.*1140C>A (n.*1140C>A)
n.5362C>A
c.*2781C>A (n.*2781C>A)
n.4916C>A
n.5061C>A
c.497C>A (p.Ala166Glu)
c.2355C>A
n.5323C>A
c.4580C>A (p.Ala1527Glu)
c.2976C>A
c.4736C>A (p.Ala1579Glu)
c.4640C>A (p.Ala1547Glu)
c.2345C>A (p.Ala782Glu)
c.4763C>A (p.Ala1588Glu)
c.4667C>A (p.Ala1556Glu)
c.4607C>A (p.Ala1536Glu)
c.4511C>A (p.Ala1504Glu)
c.4481C>A (p.Ala1494Glu)
6g.43038650C>ACA364189895CUL7n.2703G>T
c.4483G>T (p.Ala1495Ser)
n.1030G>T
c.*1139G>T (n.*1139G>T)
n.5361G>T
c.*2780G>T (n.*2780G>T)
n.4915G>T
n.5060G>T
c.496G>T (p.Ala166Ser)
c.2354G>T
n.5322G>T
c.4579G>T (p.Ala1527Ser)
c.2975G>T
c.4735G>T (p.Ala1579Ser)
c.4639G>T (p.Ala1547Ser)
c.2344G>T (p.Ala782Ser)
c.4762G>T (p.Ala1588Ser)
c.4666G>T (p.Ala1556Ser)
c.4606G>T (p.Ala1536Ser)
c.4510G>T (p.Ala1504Ser)
c.4480G>T (p.Ala1494Ser)
6g.43038650C=CA1624352823CUL7n.2703G=
c.4483G= (p.Ala1495=)
n.1030G=
c.*1139G= (n.*1139G=)
n.5361G=
c.*2780G= (n.*2780G=)
n.4915G=
n.5060G=
c.496G= (p.Ala166=)
c.2354G=
n.5322G=
c.4579G= (p.Ala1527=)
c.2975G=
c.4735G= (p.Ala1579=)
c.4639G= (p.Ala1547=)
c.2344G= (p.Ala782=)
c.4762G= (p.Ala1588=)
c.4666G= (p.Ala1556=)
c.4606G= (p.Ala1536=)
c.4510G= (p.Ala1504=)
c.4480G= (p.Ala1494=)
6g.43038650C>GCA364189901CUL7n.2703G>C
c.4483G>C (p.Ala1495Pro)
n.1030G>C
c.*1139G>C (n.*1139G>C)
n.5361G>C
c.*2780G>C (n.*2780G>C)
n.4915G>C
n.5060G>C
c.496G>C (p.Ala166Pro)
c.2354G>C
n.5322G>C
c.4579G>C (p.Ala1527Pro)
c.2975G>C
c.4735G>C (p.Ala1579Pro)
c.4639G>C (p.Ala1547Pro)
c.2344G>C (p.Ala782Pro)
c.4762G>C (p.Ala1588Pro)
c.4666G>C (p.Ala1556Pro)
c.4606G>C (p.Ala1536Pro)
c.4510G>C (p.Ala1504Pro)
c.4480G>C (p.Ala1494Pro)
6g.43038650C>TCA3813189CUL7n.2703G>A
c.4483G>A (p.Ala1495Thr)
n.1030G>A
c.*1139G>A (n.*1139G>A)
n.5361G>A
c.*2780G>A (n.*2780G>A)
n.4915G>A
n.5060G>A
c.496G>A (p.Ala166Thr)
c.2354G>A
n.5322G>A
c.4579G>A (p.Ala1527Thr)
c.2975G>A
c.4735G>A (p.Ala1579Thr)
c.4639G>A (p.Ala1547Thr)
c.2344G>A (p.Ala782Thr)
c.4762G>A (p.Ala1588Thr)
c.4666G>A (p.Ala1556Thr)
c.4606G>A (p.Ala1536Thr)
c.4510G>A (p.Ala1504Thr)
c.4480G>A (p.Ala1494Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038651G>ACA3813190CUL7n.2702C>T
c.4482C>T (p.Ser1494=)
n.1029C>T
c.*1138C>T (n.*1138C>T)
n.5360C>T
c.*2779C>T (n.*2779C>T)
n.4914C>T
n.5059C>T
c.495C>T (p.Ser165=)
c.2353C>T
n.5321C>T
c.4578C>T (p.Ser1526=)
c.2974C>T
c.4734C>T (p.Ser1578=)
c.4638C>T (p.Ser1546=)
c.2343C>T (p.Ser781=)
c.4761C>T (p.Ser1587=)
c.4665C>T (p.Ser1555=)
c.4605C>T (p.Ser1535=)
c.4509C>T (p.Ser1503=)
c.4479C>T (p.Ser1493=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038651G>CCA450369159CUL7n.2702C>G
c.4482C>G (p.Ser1494=)
n.1029C>G
c.*1138C>G (n.*1138C>G)
n.5360C>G
c.*2779C>G (n.*2779C>G)
n.4914C>G
n.5059C>G
c.495C>G (p.Ser165=)
c.2353C>G
n.5321C>G
c.4578C>G (p.Ser1526=)
c.2974C>G
c.4734C>G (p.Ser1578=)
c.4638C>G (p.Ser1546=)
c.2343C>G (p.Ser781=)
c.4761C>G (p.Ser1587=)
c.4665C>G (p.Ser1555=)
c.4605C>G (p.Ser1535=)
c.4509C>G (p.Ser1503=)
c.4479C>G (p.Ser1493=)
6g.43038651G=CA1624352824CUL7n.2702C=
c.4482C= (p.Ser1494=)
n.1029C=
c.*1138C= (n.*1138C=)
n.5360C=
c.*2779C= (n.*2779C=)
n.4914C=
n.5059C=
c.495C= (p.Ser165=)
c.2353C=
n.5321C=
c.4578C= (p.Ser1526=)
c.2974C=
c.4734C= (p.Ser1578=)
c.4638C= (p.Ser1546=)
c.2343C= (p.Ser781=)
c.4761C= (p.Ser1587=)
c.4665C= (p.Ser1555=)
c.4605C= (p.Ser1535=)
c.4509C= (p.Ser1503=)
c.4479C= (p.Ser1493=)
6g.43038651G>TCA450369160CUL7n.2702C>A
c.4482C>A (p.Ser1494=)
n.1029C>A
c.*1138C>A (n.*1138C>A)
n.5360C>A
c.*2779C>A (n.*2779C>A)
n.4914C>A
n.5059C>A
c.495C>A (p.Ser165=)
c.2353C>A
n.5321C>A
c.4578C>A (p.Ser1526=)
c.2974C>A
c.4734C>A (p.Ser1578=)
c.4638C>A (p.Ser1546=)
c.2343C>A (p.Ser781=)
c.4761C>A (p.Ser1587=)
c.4665C>A (p.Ser1555=)
c.4605C>A (p.Ser1535=)
c.4509C>A (p.Ser1503=)
c.4479C>A (p.Ser1493=)
6g.43038652G>ACA364189927CUL7n.2701C>T
c.4481C>T (p.Ser1494Phe)
n.1028C>T
c.*1137C>T (n.*1137C>T)
n.5359C>T
c.*2778C>T (n.*2778C>T)
n.4913C>T
n.5058C>T
c.494C>T (p.Ser165Phe)
c.2352C>T
n.5320C>T
c.4577C>T (p.Ser1526Phe)
c.2973C>T
c.4733C>T (p.Ser1578Phe)
c.4637C>T (p.Ser1546Phe)
c.2342C>T (p.Ser781Phe)
c.4760C>T (p.Ser1587Phe)
c.4664C>T (p.Ser1555Phe)
c.4604C>T (p.Ser1535Phe)
c.4508C>T (p.Ser1503Phe)
c.4478C>T (p.Ser1493Phe)
6g.43038652G>CCA364189930CUL7n.2701C>G
c.4481C>G (p.Ser1494Cys)
n.1028C>G
c.*1137C>G (n.*1137C>G)
n.5359C>G
c.*2778C>G (n.*2778C>G)
n.4913C>G
n.5058C>G
c.494C>G (p.Ser165Cys)
c.2352C>G
n.5320C>G
c.4577C>G (p.Ser1526Cys)
c.2973C>G
c.4733C>G (p.Ser1578Cys)
c.4637C>G (p.Ser1546Cys)
c.2342C>G (p.Ser781Cys)
c.4760C>G (p.Ser1587Cys)
c.4664C>G (p.Ser1555Cys)
c.4604C>G (p.Ser1535Cys)
c.4508C>G (p.Ser1503Cys)
c.4478C>G (p.Ser1493Cys)
6g.43038652G>TCA364189934CUL7n.2701C>A
c.4481C>A (p.Ser1494Tyr)
n.1028C>A
c.*1137C>A (n.*1137C>A)
n.5359C>A
c.*2778C>A (n.*2778C>A)
n.4913C>A
n.5058C>A
c.494C>A (p.Ser165Tyr)
c.2352C>A
n.5320C>A
c.4577C>A (p.Ser1526Tyr)
c.2973C>A
c.4733C>A (p.Ser1578Tyr)
c.4637C>A (p.Ser1546Tyr)
c.2342C>A (p.Ser781Tyr)
c.4760C>A (p.Ser1587Tyr)
c.4664C>A (p.Ser1555Tyr)
c.4604C>A (p.Ser1535Tyr)
c.4508C>A (p.Ser1503Tyr)
c.4478C>A (p.Ser1493Tyr)
6g.43038653A>CCA364189945CUL7n.2700T>G
c.4480T>G (p.Ser1494Ala)
n.1027T>G
c.*1136T>G (n.*1136T>G)
n.5358T>G
c.*2777T>G (n.*2777T>G)
n.4912T>G
n.5057T>G
c.493T>G (p.Ser165Ala)
c.2351T>G
n.5319T>G
c.4576T>G (p.Ser1526Ala)
c.2972T>G
c.4732T>G (p.Ser1578Ala)
c.4636T>G (p.Ser1546Ala)
c.2341T>G (p.Ser781Ala)
c.4759T>G (p.Ser1587Ala)
c.4663T>G (p.Ser1555Ala)
c.4603T>G (p.Ser1535Ala)
c.4507T>G (p.Ser1503Ala)
c.4477T>G (p.Ser1493Ala)
6g.43038653A>GCA364189962CUL7n.2700T>C
c.4480T>C (p.Ser1494Pro)
n.1027T>C
c.*1136T>C (n.*1136T>C)
n.5358T>C
c.*2777T>C (n.*2777T>C)
n.4912T>C
n.5057T>C
c.493T>C (p.Ser165Pro)
c.2351T>C
n.5319T>C
c.4576T>C (p.Ser1526Pro)
c.2972T>C
c.4732T>C (p.Ser1578Pro)
c.4636T>C (p.Ser1546Pro)
c.2341T>C (p.Ser781Pro)
c.4759T>C (p.Ser1587Pro)
c.4663T>C (p.Ser1555Pro)
c.4603T>C (p.Ser1535Pro)
c.4507T>C (p.Ser1503Pro)
c.4477T>C (p.Ser1493Pro)
6g.43038653A>TCA364189948CUL7n.2700T>A
c.4480T>A (p.Ser1494Thr)
n.1027T>A
c.*1136T>A (n.*1136T>A)
n.5358T>A
c.*2777T>A (n.*2777T>A)
n.4912T>A
n.5057T>A
c.493T>A (p.Ser165Thr)
c.2351T>A
n.5319T>A
c.4576T>A (p.Ser1526Thr)
c.2972T>A
c.4732T>A (p.Ser1578Thr)
c.4636T>A (p.Ser1546Thr)
c.2341T>A (p.Ser781Thr)
c.4759T>A (p.Ser1587Thr)
c.4663T>A (p.Ser1555Thr)
c.4603T>A (p.Ser1535Thr)
c.4507T>A (p.Ser1503Thr)
c.4477T>A (p.Ser1493Thr)
6g.43038654G>ACA138240401CUL7n.2699C>T
c.4479C>T (p.Leu1493=)
n.1026C>T
c.*1135C>T (n.*1135C>T)
n.5357C>T
c.*2776C>T (n.*2776C>T)
n.4911C>T
n.5056C>T
c.492C>T (p.Leu164=)
c.2350C>T
n.5318C>T
c.4575C>T (p.Leu1525=)
c.2971C>T
c.4731C>T (p.Leu1577=)
c.4635C>T (p.Leu1545=)
c.2340C>T (p.Leu780=)
c.4758C>T (p.Leu1586=)
c.4662C>T (p.Leu1554=)
c.4602C>T (p.Leu1534=)
c.4506C>T (p.Leu1502=)
c.4476C>T (p.Leu1492=)
 dbSNP
6g.43038654G>CCA450369166CUL7n.2699C>G
c.4479C>G (p.Leu1493=)
n.1026C>G
c.*1135C>G (n.*1135C>G)
n.5357C>G
c.*2776C>G (n.*2776C>G)
n.4911C>G
n.5056C>G
c.492C>G (p.Leu164=)
c.2350C>G
n.5318C>G
c.4575C>G (p.Leu1525=)
c.2971C>G
c.4731C>G (p.Leu1577=)
c.4635C>G (p.Leu1545=)
c.2340C>G (p.Leu780=)
c.4758C>G (p.Leu1586=)
c.4662C>G (p.Leu1554=)
c.4602C>G (p.Leu1534=)
c.4506C>G (p.Leu1502=)
c.4476C>G (p.Leu1492=)
 dbSNP gnomAD v2
6g.43038654G=CA1624352825CUL7n.2699C=
c.4479C= (p.Leu1493=)
n.1026C=
c.*1135C= (n.*1135C=)
n.5357C=
c.*2776C= (n.*2776C=)
n.4911C=
n.5056C=
c.492C= (p.Leu164=)
c.2350C=
n.5318C=
c.4575C= (p.Leu1525=)
c.2971C=
c.4731C= (p.Leu1577=)
c.4635C= (p.Leu1545=)
c.2340C= (p.Leu780=)
c.4758C= (p.Leu1586=)
c.4662C= (p.Leu1554=)
c.4602C= (p.Leu1534=)
c.4506C= (p.Leu1502=)
c.4476C= (p.Leu1492=)
6g.43038654G>TCA450369168CUL7n.2699C>A
c.4479C>A (p.Leu1493=)
n.1026C>A
c.*1135C>A (n.*1135C>A)
n.5357C>A
c.*2776C>A (n.*2776C>A)
n.4911C>A
n.5056C>A
c.492C>A (p.Leu164=)
c.2350C>A
n.5318C>A
c.4575C>A (p.Leu1525=)
c.2971C>A
c.4731C>A (p.Leu1577=)
c.4635C>A (p.Leu1545=)
c.2340C>A (p.Leu780=)
c.4758C>A (p.Leu1586=)
c.4662C>A (p.Leu1554=)
c.4602C>A (p.Leu1534=)
c.4506C>A (p.Leu1502=)
c.4476C>A (p.Leu1492=)
6g.43038655A=CA1624352826CUL7n.2698T=
c.4478T= (p.Leu1493=)
n.1025T=
c.*1134T= (n.*1134T=)
n.5356T=
c.*2775T= (n.*2775T=)
n.4910T=
n.5055T=
c.491T= (p.Leu164=)
c.2349T=
n.5317T=
c.4574T= (p.Leu1525=)
c.2970T=
c.4730T= (p.Leu1577=)
c.4634T= (p.Leu1545=)
c.2339T= (p.Leu780=)
c.4757T= (p.Leu1586=)
c.4661T= (p.Leu1554=)
c.4601T= (p.Leu1534=)
c.4505T= (p.Leu1502=)
c.4475T= (p.Leu1492=)
6g.43038655A>CCA364189984CUL7n.2698T>G
c.4478T>G (p.Leu1493Arg)
n.1025T>G
c.*1134T>G (n.*1134T>G)
n.5356T>G
c.*2775T>G (n.*2775T>G)
n.4910T>G
n.5055T>G
c.491T>G (p.Leu164Arg)
c.2349T>G
n.5317T>G
c.4574T>G (p.Leu1525Arg)
c.2970T>G
c.4730T>G (p.Leu1577Arg)
c.4634T>G (p.Leu1545Arg)
c.2339T>G (p.Leu780Arg)
c.4757T>G (p.Leu1586Arg)
c.4661T>G (p.Leu1554Arg)
c.4601T>G (p.Leu1534Arg)
c.4505T>G (p.Leu1502Arg)
c.4475T>G (p.Leu1492Arg)
6g.43038655A>GCA138240404CUL7n.2698T>C
c.4478T>C (p.Leu1493Pro)
n.1025T>C
c.*1134T>C (n.*1134T>C)
n.5356T>C
c.*2775T>C (n.*2775T>C)
n.4910T>C
n.5055T>C
c.491T>C (p.Leu164Pro)
c.2349T>C
n.5317T>C
c.4574T>C (p.Leu1525Pro)
c.2970T>C
c.4730T>C (p.Leu1577Pro)
c.4634T>C (p.Leu1545Pro)
c.2339T>C (p.Leu780Pro)
c.4757T>C (p.Leu1586Pro)
c.4661T>C (p.Leu1554Pro)
c.4601T>C (p.Leu1534Pro)
c.4505T>C (p.Leu1502Pro)
c.4475T>C (p.Leu1492Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43038655A>TCA364189982CUL7n.2698T>A
c.4478T>A (p.Leu1493His)
n.1025T>A
c.*1134T>A (n.*1134T>A)
n.5356T>A
c.*2775T>A (n.*2775T>A)
n.4910T>A
n.5055T>A
c.491T>A (p.Leu164His)
c.2349T>A
n.5317T>A
c.4574T>A (p.Leu1525His)
c.2970T>A
c.4730T>A (p.Leu1577His)
c.4634T>A (p.Leu1545His)
c.2339T>A (p.Leu780His)
c.4757T>A (p.Leu1586His)
c.4661T>A (p.Leu1554His)
c.4601T>A (p.Leu1534His)
c.4505T>A (p.Leu1502His)
c.4475T>A (p.Leu1492His)
6g.43038656G>ACA3813191CUL7n.2697C>T
c.4477C>T (p.Leu1493Phe)
n.1024C>T
c.*1133C>T (n.*1133C>T)
n.5355C>T
c.*2774C>T (n.*2774C>T)
n.4909C>T
n.5054C>T
c.490C>T (p.Leu164Phe)
c.2348C>T
n.5316C>T
c.4573C>T (p.Leu1525Phe)
c.2969C>T
c.4729C>T (p.Leu1577Phe)
c.4633C>T (p.Leu1545Phe)
c.2338C>T (p.Leu780Phe)
c.4756C>T (p.Leu1586Phe)
c.4660C>T (p.Leu1554Phe)
c.4600C>T (p.Leu1534Phe)
c.4504C>T (p.Leu1502Phe)
c.4474C>T (p.Leu1492Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43038656G>CCA364190008CUL7n.2697C>G
c.4477C>G (p.Leu1493Val)
n.1024C>G
c.*1133C>G (n.*1133C>G)
n.5355C>G
c.*2774C>G (n.*2774C>G)
n.4909C>G
n.5054C>G
c.490C>G (p.Leu164Val)
c.2348C>G
n.5316C>G
c.4573C>G (p.Leu1525Val)
c.2969C>G
c.4729C>G (p.Leu1577Val)
c.4633C>G (p.Leu1545Val)
c.2338C>G (p.Leu780Val)
c.4756C>G (p.Leu1586Val)
c.4660C>G (p.Leu1554Val)
c.4600C>G (p.Leu1534Val)
c.4504C>G (p.Leu1502Val)
c.4474C>G (p.Leu1492Val)
6g.43038656G=CA1624352827CUL7n.2697C=
c.4477C= (p.Leu1493=)
n.1024C=
c.*1133C= (n.*1133C=)
n.5355C=
c.*2774C= (n.*2774C=)
n.4909C=
n.5054C=
c.490C= (p.Leu164=)
c.2348C=
n.5316C=
c.4573C= (p.Leu1525=)
c.2969C=
c.4729C= (p.Leu1577=)
c.4633C= (p.Leu1545=)
c.2338C= (p.Leu780=)
c.4756C= (p.Leu1586=)
c.4660C= (p.Leu1554=)
c.4600C= (p.Leu1534=)
c.4504C= (p.Leu1502=)
c.4474C= (p.Leu1492=)
6g.43038656G>TCA364190010CUL7n.2697C>A
c.4477C>A (p.Leu1493Ile)
n.1024C>A
c.*1133C>A (n.*1133C>A)
n.5355C>A
c.*2774C>A (n.*2774C>A)
n.4909C>A
n.5054C>A
c.490C>A (p.Leu164Ile)
c.2348C>A
n.5316C>A
c.4573C>A (p.Leu1525Ile)
c.2969C>A
c.4729C>A (p.Leu1577Ile)
c.4633C>A (p.Leu1545Ile)
c.2338C>A (p.Leu780Ile)
c.4756C>A (p.Leu1586Ile)
c.4660C>A (p.Leu1554Ile)
c.4600C>A (p.Leu1534Ile)
c.4504C>A (p.Leu1502Ile)
c.4474C>A (p.Leu1492Ile)
6g.43038656_43038657delinsGCCA1624352828CUL7n.2696_2697delinsGC
c.4476_4477delinsGC (p.Gly1492=)
n.1023_1024delinsGC
c.*1132_*1133delinsGC (n.*1132_*1133delinsGC)
n.5354_5355delinsGC
c.*2773_*2774delinsGC (n.*2773_*2774delinsGC)
n.4908_4909delinsGC
n.5053_5054delinsGC
c.489_490delinsGC (p.Gly163=)
c.2347_2348delinsGC
n.5315_5316delinsGC
c.4572_4573delinsGC (p.Gly1524=)
c.2968_2969delinsGC
c.4728_4729delinsGC (p.Gly1576=)
c.4632_4633delinsGC (p.Gly1544=)
c.2337_2338delinsGC (p.Gly779=)
c.4755_4756delinsGC (p.Gly1585=)
c.4659_4660delinsGC (p.Gly1553=)
c.4599_4600delinsGC (p.Gly1533=)
c.4503_4504delinsGC (p.Gly1501=)
c.4473_4474delinsGC (p.Gly1491=)
6g.43038657C>ACA450369171CUL7n.2696G>T
c.4476G>T (p.Gly1492=)
n.1023G>T
c.*1132G>T (n.*1132G>T)
n.5354G>T
c.*2773G>T (n.*2773G>T)
n.4908G>T
n.5053G>T
c.489G>T (p.Gly163=)
c.2347G>T
n.5315G>T
c.4572G>T (p.Gly1524=)
c.2968G>T
c.4728G>T (p.Gly1576=)
c.4632G>T (p.Gly1544=)
c.2337G>T (p.Gly779=)
c.4755G>T (p.Gly1585=)
c.4659G>T (p.Gly1553=)
c.4599G>T (p.Gly1533=)
c.4503G>T (p.Gly1501=)
c.4473G>T (p.Gly1491=)
6g.43038657C=CA1624352829CUL7n.2696G=
c.4476G= (p.Gly1492=)
n.1023G=
c.*1132G= (n.*1132G=)
n.5354G=
c.*2773G= (n.*2773G=)
n.4908G=
n.5053G=
c.489G= (p.Gly163=)
c.2347G=
n.5315G=
c.4572G= (p.Gly1524=)
c.2968G=
c.4728G= (p.Gly1576=)
c.4632G= (p.Gly1544=)
c.2337G= (p.Gly779=)
c.4755G= (p.Gly1585=)
c.4659G= (p.Gly1553=)
c.4599G= (p.Gly1533=)
c.4503G= (p.Gly1501=)
c.4473G= (p.Gly1491=)
6g.43038657C>GCA450369172CUL7n.2696G>C
c.4476G>C (p.Gly1492=)
n.1023G>C
c.*1132G>C (n.*1132G>C)
n.5354G>C
c.*2773G>C (n.*2773G>C)
n.4908G>C
n.5053G>C
c.489G>C (p.Gly163=)
c.2347G>C
n.5315G>C
c.4572G>C (p.Gly1524=)
c.2968G>C
c.4728G>C (p.Gly1576=)
c.4632G>C (p.Gly1544=)
c.2337G>C (p.Gly779=)
c.4755G>C (p.Gly1585=)
c.4659G>C (p.Gly1553=)
c.4599G>C (p.Gly1533=)
c.4503G>C (p.Gly1501=)
c.4473G>C (p.Gly1491=)
6g.43038657C>TCA450369173CUL7n.2696G>A
c.4476G>A (p.Gly1492=)
n.1023G>A
c.*1132G>A (n.*1132G>A)
n.5354G>A
c.*2773G>A (n.*2773G>A)
n.4908G>A
n.5053G>A
c.489G>A (p.Gly163=)
c.2347G>A
n.5315G>A
c.4572G>A (p.Gly1524=)
c.2968G>A
c.4728G>A (p.Gly1576=)
c.4632G>A (p.Gly1544=)
c.2337G>A (p.Gly779=)
c.4755G>A (p.Gly1585=)
c.4659G>A (p.Gly1553=)
c.4599G>A (p.Gly1533=)
c.4503G>A (p.Gly1501=)
c.4473G>A (p.Gly1491=)
 dbSNP gnomAD v4
6g.43038659delCA658657595CUL7n.2696del
c.4476del (p.Leu1493SerfsTer?)
n.1023del
c.*1132del (n.*1132del)
n.5354del
c.*2773del (n.*2773del)
n.4908del
n.5053del
c.489del (p.Leu164SerfsTer?)
c.2347del
n.5315del
c.4572del (p.Leu1525SerfsTer?)
c.2968del
c.4728del (p.Leu1577SerfsTer?)
c.4632del (p.Leu1545SerfsTer?)
c.2337del (p.Leu780SerfsTer?)
c.4755del (p.Leu1586SerfsTer?)
c.4659del (p.Leu1554SerfsTer?)
c.4599del (p.Leu1534SerfsTer?)
c.4503del (p.Leu1502SerfsTer?)
c.4473del (p.Leu1492SerfsTer?)
 ClinVar dbSNP
6g.43038658C>ACA364190015CUL7n.2695G>T
c.4475G>T (p.Gly1492Val)
n.1022G>T
c.*1131G>T (n.*1131G>T)
n.5353G>T
c.*2772G>T (n.*2772G>T)
n.4907G>T
n.5052G>T
c.488G>T (p.Gly163Val)
c.2346G>T
n.5314G>T
c.4571G>T (p.Gly1524Val)
c.2967G>T
c.4727G>T (p.Gly1576Val)
c.4631G>T (p.Gly1544Val)
c.2336G>T (p.Gly779Val)
c.4754G>T (p.Gly1585Val)
c.4658G>T (p.Gly1553Val)
c.4598G>T (p.Gly1533Val)
c.4502G>T (p.Gly1501Val)
c.4472G>T (p.Gly1491Val)
6g.43038658C>GCA364190039CUL7n.2695G>C
c.4475G>C (p.Gly1492Ala)
n.1022G>C
c.*1131G>C (n.*1131G>C)
n.5353G>C
c.*2772G>C (n.*2772G>C)
n.4907G>C
n.5052G>C
c.488G>C (p.Gly163Ala)
c.2346G>C
n.5314G>C
c.4571G>C (p.Gly1524Ala)
c.2967G>C
c.4727G>C (p.Gly1576Ala)
c.4631G>C (p.Gly1544Ala)
c.2336G>C (p.Gly779Ala)
c.4754G>C (p.Gly1585Ala)
c.4658G>C (p.Gly1553Ala)
c.4598G>C (p.Gly1533Ala)
c.4502G>C (p.Gly1501Ala)
c.4472G>C (p.Gly1491Ala)
6g.43038658C>TCA364190058CUL7n.2695G>A
c.4475G>A (p.Gly1492Glu)
n.1022G>A
c.*1131G>A (n.*1131G>A)
n.5353G>A
c.*2772G>A (n.*2772G>A)
n.4907G>A
n.5052G>A
c.488G>A (p.Gly163Glu)
c.2346G>A
n.5314G>A
c.4571G>A (p.Gly1524Glu)
c.2967G>A
c.4727G>A (p.Gly1576Glu)
c.4631G>A (p.Gly1544Glu)
c.2336G>A (p.Gly779Glu)
c.4754G>A (p.Gly1585Glu)
c.4658G>A (p.Gly1553Glu)
c.4598G>A (p.Gly1533Glu)
c.4502G>A (p.Gly1501Glu)
c.4472G>A (p.Gly1491Glu)
6g.43038659C>ACA364190068CUL7n.2694G>T
c.4474G>T (p.Gly1492Trp)
n.1021G>T
c.*1130G>T (n.*1130G>T)
n.5352G>T
c.*2771G>T (n.*2771G>T)
n.4906G>T
n.5051G>T
c.487G>T (p.Gly163Trp)
c.2345G>T
n.5313G>T
c.4570G>T (p.Gly1524Trp)
c.2966G>T
c.4726G>T (p.Gly1576Trp)
c.4630G>T (p.Gly1544Trp)
c.2335G>T (p.Gly779Trp)
c.4753G>T (p.Gly1585Trp)
c.4657G>T (p.Gly1553Trp)
c.4597G>T (p.Gly1533Trp)
c.4501G>T (p.Gly1501Trp)
c.4471G>T (p.Gly1491Trp)
6g.43038659C>GCA364190074CUL7n.2694G>C
c.4474G>C (p.Gly1492Arg)
n.1021G>C
c.*1130G>C (n.*1130G>C)
n.5352G>C
c.*2771G>C (n.*2771G>C)
n.4906G>C
n.5051G>C
c.487G>C (p.Gly163Arg)
c.2345G>C
n.5313G>C
c.4570G>C (p.Gly1524Arg)
c.2966G>C
c.4726G>C (p.Gly1576Arg)
c.4630G>C (p.Gly1544Arg)
c.2335G>C (p.Gly779Arg)
c.4753G>C (p.Gly1585Arg)
c.4657G>C (p.Gly1553Arg)
c.4597G>C (p.Gly1533Arg)
c.4501G>C (p.Gly1501Arg)
c.4471G>C (p.Gly1491Arg)
6g.43038659C>TCA364190079CUL7n.2694G>A
c.4474G>A (p.Gly1492Arg)
n.1021G>A
c.*1130G>A (n.*1130G>A)
n.5352G>A
c.*2771G>A (n.*2771G>A)
n.4906G>A
n.5051G>A
c.487G>A (p.Gly163Arg)
c.2345G>A
n.5313G>A
c.4570G>A (p.Gly1524Arg)
c.2966G>A
c.4726G>A (p.Gly1576Arg)
c.4630G>A (p.Gly1544Arg)
c.2335G>A (p.Gly779Arg)
c.4753G>A (p.Gly1585Arg)
c.4657G>A (p.Gly1553Arg)
c.4597G>A (p.Gly1533Arg)
c.4501G>A (p.Gly1501Arg)
c.4471G>A (p.Gly1491Arg)
6g.43038660T>ACA450369177CUL7n.2693A>T
c.4473A>T (p.Ser1491=)
n.1020A>T
c.*1129A>T (n.*1129A>T)
n.5351A>T
c.*2770A>T (n.*2770A>T)
n.4905A>T
n.5050A>T
c.486A>T (p.Ser162=)
c.2344A>T
n.5312A>T
c.4569A>T (p.Ser1523=)
c.2965A>T
c.4725A>T (p.Ser1575=)
c.4629A>T (p.Ser1543=)
c.2334A>T (p.Ser778=)
c.4752A>T (p.Ser1584=)
c.4656A>T (p.Ser1552=)
c.4596A>T (p.Ser1532=)
c.4500A>T (p.Ser1500=)
c.4470A>T (p.Ser1490=)
6g.43038660T>CCA450369179CUL7n.2693A>G
c.4473A>G (p.Ser1491=)
n.1020A>G
c.*1129A>G (n.*1129A>G)
n.5351A>G
c.*2770A>G (n.*2770A>G)
n.4905A>G
n.5050A>G
c.486A>G (p.Ser162=)
c.2344A>G
n.5312A>G
c.4569A>G (p.Ser1523=)
c.2965A>G
c.4725A>G (p.Ser1575=)
c.4629A>G (p.Ser1543=)
c.2334A>G (p.Ser778=)
c.4752A>G (p.Ser1584=)
c.4656A>G (p.Ser1552=)
c.4596A>G (p.Ser1532=)
c.4500A>G (p.Ser1500=)
c.4470A>G (p.Ser1490=)
6g.43038660T>GCA450369178CUL7n.2693A>C
c.4473A>C (p.Ser1491=)
n.1020A>C
c.*1129A>C (n.*1129A>C)
n.5351A>C
c.*2770A>C (n.*2770A>C)
n.4905A>C
n.5050A>C
c.486A>C (p.Ser162=)
c.2344A>C
n.5312A>C
c.4569A>C (p.Ser1523=)
c.2965A>C
c.4725A>C (p.Ser1575=)
c.4629A>C (p.Ser1543=)
c.2334A>C (p.Ser778=)
c.4752A>C (p.Ser1584=)
c.4656A>C (p.Ser1552=)
c.4596A>C (p.Ser1532=)
c.4500A>C (p.Ser1500=)
c.4470A>C (p.Ser1490=)
6g.43038661G>ACA364190095CUL7n.2692C>T
c.4472C>T (p.Ser1491Leu)
n.1019C>T
c.*1128C>T (n.*1128C>T)
n.5350C>T
c.*2769C>T (n.*2769C>T)
n.4904C>T
n.5049C>T
c.485C>T (p.Ser162Leu)
c.2343C>T
n.5311C>T
c.4568C>T (p.Ser1523Leu)
c.2964C>T
c.4724C>T (p.Ser1575Leu)
c.4628C>T (p.Ser1543Leu)
c.2333C>T (p.Ser778Leu)
c.4751C>T (p.Ser1584Leu)
c.4655C>T (p.Ser1552Leu)
c.4595C>T (p.Ser1532Leu)
c.4499C>T (p.Ser1500Leu)
c.4469C>T (p.Ser1490Leu)
 gnomAD v4
6g.43038661G>CCA364190091CUL7n.2692C>G
c.4472C>G (p.Ser1491Ter)
n.1019C>G
c.*1128C>G (n.*1128C>G)
n.5350C>G
c.*2769C>G (n.*2769C>G)
n.4904C>G
n.5049C>G
c.485C>G (p.Ser162Ter)
c.2343C>G
n.5311C>G
c.4568C>G (p.Ser1523Ter)
c.2964C>G
c.4724C>G (p.Ser1575Ter)
c.4628C>G (p.Ser1543Ter)
c.2333C>G (p.Ser778Ter)
c.4751C>G (p.Ser1584Ter)
c.4655C>G (p.Ser1552Ter)
c.4595C>G (p.Ser1532Ter)
c.4499C>G (p.Ser1500Ter)
c.4469C>G (p.Ser1490Ter)
6g.43038661G>TCA364190086CUL7n.2692C>A
c.4472C>A (p.Ser1491Ter)
n.1019C>A
c.*1128C>A (n.*1128C>A)
n.5350C>A
c.*2769C>A (n.*2769C>A)
n.4904C>A
n.5049C>A
c.485C>A (p.Ser162Ter)
c.2343C>A
n.5311C>A
c.4568C>A (p.Ser1523Ter)
c.2964C>A
c.4724C>A (p.Ser1575Ter)
c.4628C>A (p.Ser1543Ter)
c.2333C>A (p.Ser778Ter)
c.4751C>A (p.Ser1584Ter)
c.4655C>A (p.Ser1552Ter)
c.4595C>A (p.Ser1532Ter)
c.4499C>A (p.Ser1500Ter)
c.4469C>A (p.Ser1490Ter)
6g.43038662A>CCA364190100CUL7n.2691T>G
c.4471T>G (p.Ser1491Ala)
n.1018T>G
c.*1127T>G (n.*1127T>G)
n.5349T>G
c.*2768T>G (n.*2768T>G)
n.4903T>G
n.5048T>G
c.484T>G (p.Ser162Ala)
c.2342T>G
n.5310T>G
c.4567T>G (p.Ser1523Ala)
c.2963T>G
c.4723T>G (p.Ser1575Ala)
c.4627T>G (p.Ser1543Ala)
c.2332T>G (p.Ser778Ala)
c.4750T>G (p.Ser1584Ala)
c.4654T>G (p.Ser1552Ala)
c.4594T>G (p.Ser1532Ala)
c.4498T>G (p.Ser1500Ala)
c.4468T>G (p.Ser1490Ala)
6g.43038662A>GCA364190106CUL7n.2691T>C
c.4471T>C (p.Ser1491Pro)
n.1018T>C
c.*1127T>C (n.*1127T>C)
n.5349T>C
c.*2768T>C (n.*2768T>C)
n.4903T>C
n.5048T>C
c.484T>C (p.Ser162Pro)
c.2342T>C
n.5310T>C
c.4567T>C (p.Ser1523Pro)
c.2963T>C
c.4723T>C (p.Ser1575Pro)
c.4627T>C (p.Ser1543Pro)
c.2332T>C (p.Ser778Pro)
c.4750T>C (p.Ser1584Pro)
c.4654T>C (p.Ser1552Pro)
c.4594T>C (p.Ser1532Pro)
c.4498T>C (p.Ser1500Pro)
c.4468T>C (p.Ser1490Pro)
6g.43038662A>TCA364190109CUL7n.2691T>A
c.4471T>A (p.Ser1491Thr)
n.1018T>A
c.*1127T>A (n.*1127T>A)
n.5349T>A
c.*2768T>A (n.*2768T>A)
n.4903T>A
n.5048T>A
c.484T>A (p.Ser162Thr)
c.2342T>A
n.5310T>A
c.4567T>A (p.Ser1523Thr)
c.2963T>A
c.4723T>A (p.Ser1575Thr)
c.4627T>A (p.Ser1543Thr)
c.2332T>A (p.Ser778Thr)
c.4750T>A (p.Ser1584Thr)
c.4654T>A (p.Ser1552Thr)
c.4594T>A (p.Ser1532Thr)
c.4498T>A (p.Ser1500Thr)
c.4468T>A (p.Ser1490Thr)
6g.43038663G>ACA450369181CUL7n.2690C>T
c.4470C>T (p.Phe1490=)
n.1017C>T
c.*1126C>T (n.*1126C>T)
n.5348C>T
c.*2767C>T (n.*2767C>T)
n.4902C>T
n.5047C>T
c.483C>T (p.Phe161=)
c.2341C>T
n.5309C>T
c.4566C>T (p.Phe1522=)
c.2962C>T
c.4722C>T (p.Phe1574=)
c.4626C>T (p.Phe1542=)
c.2331C>T (p.Phe777=)
c.4749C>T (p.Phe1583=)
c.4653C>T (p.Phe1551=)
c.4593C>T (p.Phe1531=)
c.4497C>T (p.Phe1499=)
c.4467C>T (p.Phe1489=)
6g.43038663G>CCA364190119CUL7n.2690C>G
c.4470C>G (p.Phe1490Leu)
n.1017C>G
c.*1126C>G (n.*1126C>G)
n.5348C>G
c.*2767C>G (n.*2767C>G)
n.4902C>G
n.5047C>G
c.483C>G (p.Phe161Leu)
c.2341C>G
n.5309C>G
c.4566C>G (p.Phe1522Leu)
c.2962C>G
c.4722C>G (p.Phe1574Leu)
c.4626C>G (p.Phe1542Leu)
c.2331C>G (p.Phe777Leu)
c.4749C>G (p.Phe1583Leu)
c.4653C>G (p.Phe1551Leu)
c.4593C>G (p.Phe1531Leu)
c.4497C>G (p.Phe1499Leu)
c.4467C>G (p.Phe1489Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43038663G=CA1624352830CUL7n.2690C=
c.4470C= (p.Phe1490=)
n.1017C=
c.*1126C= (n.*1126C=)
n.5348C=
c.*2767C= (n.*2767C=)
n.4902C=
n.5047C=
c.483C= (p.Phe161=)
c.2341C=
n.5309C=
c.4566C= (p.Phe1522=)
c.2962C=
c.4722C= (p.Phe1574=)
c.4626C= (p.Phe1542=)
c.2331C= (p.Phe777=)
c.4749C= (p.Phe1583=)
c.4653C= (p.Phe1551=)
c.4593C= (p.Phe1531=)
c.4497C= (p.Phe1499=)
c.4467C= (p.Phe1489=)
6g.43038663G>TCA364190122CUL7n.2690C>A
c.4470C>A (p.Phe1490Leu)
n.1017C>A
c.*1126C>A (n.*1126C>A)
n.5348C>A
c.*2767C>A (n.*2767C>A)
n.4902C>A
n.5047C>A
c.483C>A (p.Phe161Leu)
c.2341C>A
n.5309C>A
c.4566C>A (p.Phe1522Leu)
c.2962C>A
c.4722C>A (p.Phe1574Leu)
c.4626C>A (p.Phe1542Leu)
c.2331C>A (p.Phe777Leu)
c.4749C>A (p.Phe1583Leu)
c.4653C>A (p.Phe1551Leu)
c.4593C>A (p.Phe1531Leu)
c.4497C>A (p.Phe1499Leu)
c.4467C>A (p.Phe1489Leu)
6g.43038664A>CCA364190123CUL7n.2689T>G
c.4469T>G (p.Phe1490Cys)
n.1016T>G
c.*1125T>G (n.*1125T>G)
n.5347T>G
c.*2766T>G (n.*2766T>G)
n.4901T>G
n.5046T>G
c.482T>G (p.Phe161Cys)
c.2340T>G
n.5308T>G
c.4565T>G (p.Phe1522Cys)
c.2961T>G
c.4721T>G (p.Phe1574Cys)
c.4625T>G (p.Phe1542Cys)
c.2330T>G (p.Phe777Cys)
c.4748T>G (p.Phe1583Cys)
c.4652T>G (p.Phe1551Cys)
c.4592T>G (p.Phe1531Cys)
c.4496T>G (p.Phe1499Cys)
c.4466T>G (p.Phe1489Cys)
6g.43038664A>GCA364190124CUL7n.2689T>C
c.4469T>C (p.Phe1490Ser)
n.1016T>C
c.*1125T>C (n.*1125T>C)
n.5347T>C
c.*2766T>C (n.*2766T>C)
n.4901T>C
n.5046T>C
c.482T>C (p.Phe161Ser)
c.2340T>C
n.5308T>C
c.4565T>C (p.Phe1522Ser)
c.2961T>C
c.4721T>C (p.Phe1574Ser)
c.4625T>C (p.Phe1542Ser)
c.2330T>C (p.Phe777Ser)
c.4748T>C (p.Phe1583Ser)
c.4652T>C (p.Phe1551Ser)
c.4592T>C (p.Phe1531Ser)
c.4496T>C (p.Phe1499Ser)
c.4466T>C (p.Phe1489Ser)
6g.43038664A>TCA364190126CUL7n.2689T>A
c.4469T>A (p.Phe1490Tyr)
n.1016T>A
c.*1125T>A (n.*1125T>A)
n.5347T>A
c.*2766T>A (n.*2766T>A)
n.4901T>A
n.5046T>A
c.482T>A (p.Phe161Tyr)
c.2340T>A
n.5308T>A
c.4565T>A (p.Phe1522Tyr)
c.2961T>A
c.4721T>A (p.Phe1574Tyr)
c.4625T>A (p.Phe1542Tyr)
c.2330T>A (p.Phe777Tyr)
c.4748T>A (p.Phe1583Tyr)
c.4652T>A (p.Phe1551Tyr)
c.4592T>A (p.Phe1531Tyr)
c.4496T>A (p.Phe1499Tyr)
c.4466T>A (p.Phe1489Tyr)
6g.43038665A>CCA364190149CUL7n.2688T>G
c.4468T>G (p.Phe1490Val)
n.1015T>G
c.*1124T>G (n.*1124T>G)
n.5346T>G
c.*2765T>G (n.*2765T>G)
n.4900T>G
n.5045T>G
c.481T>G (p.Phe161Val)
c.2339T>G
n.5307T>G
c.4564T>G (p.Phe1522Val)
c.2960T>G
c.4720T>G (p.Phe1574Val)
c.4624T>G (p.Phe1542Val)
c.2329T>G (p.Phe777Val)
c.4747T>G (p.Phe1583Val)
c.4651T>G (p.Phe1551Val)
c.4591T>G (p.Phe1531Val)
c.4495T>G (p.Phe1499Val)
c.4465T>G (p.Phe1489Val)
6g.43038665A>GCA364190153CUL7n.2688T>C
c.4468T>C (p.Phe1490Leu)
n.1015T>C
c.*1124T>C (n.*1124T>C)
n.5346T>C
c.*2765T>C (n.*2765T>C)
n.4900T>C
n.5045T>C
c.481T>C (p.Phe161Leu)
c.2339T>C
n.5307T>C
c.4564T>C (p.Phe1522Leu)
c.2960T>C
c.4720T>C (p.Phe1574Leu)
c.4624T>C (p.Phe1542Leu)
c.2329T>C (p.Phe777Leu)
c.4747T>C (p.Phe1583Leu)
c.4651T>C (p.Phe1551Leu)
c.4591T>C (p.Phe1531Leu)
c.4495T>C (p.Phe1499Leu)
c.4465T>C (p.Phe1489Leu)
 dbSNP
6g.43038665A>TCA364190155CUL7n.2688T>A
c.4468T>A (p.Phe1490Ile)
n.1015T>A
c.*1124T>A (n.*1124T>A)
n.5346T>A
c.*2765T>A (n.*2765T>A)
n.4900T>A
n.5045T>A
c.481T>A (p.Phe161Ile)
c.2339T>A
n.5307T>A
c.4564T>A (p.Phe1522Ile)
c.2960T>A
c.4720T>A (p.Phe1574Ile)
c.4624T>A (p.Phe1542Ile)
c.2329T>A (p.Phe777Ile)
c.4747T>A (p.Phe1583Ile)
c.4651T>A (p.Phe1551Ile)
c.4591T>A (p.Phe1531Ile)
c.4495T>A (p.Phe1499Ile)
c.4465T>A (p.Phe1489Ile)
6g.43038666C>ACA450369186CUL7n.2687G>T
c.4467G>T (p.Ala1489=)
n.1014G>T
c.*1123G>T (n.*1123G>T)
n.5345G>T
c.*2764G>T (n.*2764G>T)
n.4899G>T
n.5044G>T
c.480G>T (p.Ala160=)
c.2338G>T
n.5306G>T
c.4563G>T (p.Ala1521=)
c.2959G>T
c.4719G>T (p.Ala1573=)
c.4623G>T (p.Ala1541=)
c.2328G>T (p.Ala776=)
c.4746G>T (p.Ala1582=)
c.4650G>T (p.Ala1550=)
c.4590G>T (p.Ala1530=)
c.4494G>T (p.Ala1498=)
c.4464G>T (p.Ala1488=)
6g.43038666C=CA1624352831CUL7n.2687G=
c.4467G= (p.Ala1489=)
n.1014G=
c.*1123G= (n.*1123G=)
n.5345G=
c.*2764G= (n.*2764G=)
n.4899G=
n.5044G=
c.480G= (p.Ala160=)
c.2338G=
n.5306G=
c.4563G= (p.Ala1521=)
c.2959G=
c.4719G= (p.Ala1573=)
c.4623G= (p.Ala1541=)
c.2328G= (p.Ala776=)
c.4746G= (p.Ala1582=)
c.4650G= (p.Ala1550=)
c.4590G= (p.Ala1530=)
c.4494G= (p.Ala1498=)
c.4464G= (p.Ala1488=)
6g.43038666C>GCA450369187CUL7n.2687G>C
c.4467G>C (p.Ala1489=)
n.1014G>C
c.*1123G>C (n.*1123G>C)
n.5345G>C
c.*2764G>C (n.*2764G>C)
n.4899G>C
n.5044G>C
c.480G>C (p.Ala160=)
c.2338G>C
n.5306G>C
c.4563G>C (p.Ala1521=)
c.2959G>C
c.4719G>C (p.Ala1573=)
c.4623G>C (p.Ala1541=)
c.2328G>C (p.Ala776=)
c.4746G>C (p.Ala1582=)
c.4650G>C (p.Ala1550=)
c.4590G>C (p.Ala1530=)
c.4494G>C (p.Ala1498=)
c.4464G>C (p.Ala1488=)
6g.43038666C>TCA3813192CUL7n.2687G>A
c.4467G>A (p.Ala1489=)
n.1014G>A
c.*1123G>A (n.*1123G>A)
n.5345G>A
c.*2764G>A (n.*2764G>A)
n.4899G>A
n.5044G>A
c.480G>A (p.Ala160=)
c.2338G>A
n.5306G>A
c.4563G>A (p.Ala1521=)
c.2959G>A
c.4719G>A (p.Ala1573=)
c.4623G>A (p.Ala1541=)
c.2328G>A (p.Ala776=)
c.4746G>A (p.Ala1582=)
c.4650G>A (p.Ala1550=)
c.4590G>A (p.Ala1530=)
c.4494G>A (p.Ala1498=)
c.4464G>A (p.Ala1488=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038667G>ACA3813193CUL7n.2686C>T
c.4466C>T (p.Ala1489Val)
n.1013C>T
c.*1122C>T (n.*1122C>T)
n.5344C>T
c.*2763C>T (n.*2763C>T)
n.4898C>T
n.5043C>T
c.479C>T (p.Ala160Val)
c.2337C>T
n.5305C>T
c.4562C>T (p.Ala1521Val)
c.2958C>T
c.4718C>T (p.Ala1573Val)
c.4622C>T (p.Ala1541Val)
c.2327C>T (p.Ala776Val)
c.4745C>T (p.Ala1582Val)
c.4649C>T (p.Ala1550Val)
c.4589C>T (p.Ala1530Val)
c.4493C>T (p.Ala1498Val)
c.4463C>T (p.Ala1488Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038667G>CCA364190164CUL7n.2686C>G
c.4466C>G (p.Ala1489Gly)
n.1013C>G
c.*1122C>G (n.*1122C>G)
n.5344C>G
c.*2763C>G (n.*2763C>G)
n.4898C>G
n.5043C>G
c.479C>G (p.Ala160Gly)
c.2337C>G
n.5305C>G
c.4562C>G (p.Ala1521Gly)
c.2958C>G
c.4718C>G (p.Ala1573Gly)
c.4622C>G (p.Ala1541Gly)
c.2327C>G (p.Ala776Gly)
c.4745C>G (p.Ala1582Gly)
c.4649C>G (p.Ala1550Gly)
c.4589C>G (p.Ala1530Gly)
c.4493C>G (p.Ala1498Gly)
c.4463C>G (p.Ala1488Gly)
6g.43038667G=CA1624352832CUL7n.2686C=
c.4466C= (p.Ala1489=)
n.1013C=
c.*1122C= (n.*1122C=)
n.5344C=
c.*2763C= (n.*2763C=)
n.4898C=
n.5043C=
c.479C= (p.Ala160=)
c.2337C=
n.5305C=
c.4562C= (p.Ala1521=)
c.2958C=
c.4718C= (p.Ala1573=)
c.4622C= (p.Ala1541=)
c.2327C= (p.Ala776=)
c.4745C= (p.Ala1582=)
c.4649C= (p.Ala1550=)
c.4589C= (p.Ala1530=)
c.4493C= (p.Ala1498=)
c.4463C= (p.Ala1488=)
6g.43038667G>TCA364190162CUL7n.2686C>A
c.4466C>A (p.Ala1489Glu)
n.1013C>A
c.*1122C>A (n.*1122C>A)
n.5344C>A
c.*2763C>A (n.*2763C>A)
n.4898C>A
n.5043C>A
c.479C>A (p.Ala160Glu)
c.2337C>A
n.5305C>A
c.4562C>A (p.Ala1521Glu)
c.2958C>A
c.4718C>A (p.Ala1573Glu)
c.4622C>A (p.Ala1541Glu)
c.2327C>A (p.Ala776Glu)
c.4745C>A (p.Ala1582Glu)
c.4649C>A (p.Ala1550Glu)
c.4589C>A (p.Ala1530Glu)
c.4493C>A (p.Ala1498Glu)
c.4463C>A (p.Ala1488Glu)
6g.43038668C>ACA364190182CUL7n.2685G>T
c.4465G>T (p.Ala1489Ser)
n.1012G>T
c.*1121G>T (n.*1121G>T)
n.5343G>T
c.*2762G>T (n.*2762G>T)
n.4897G>T
n.5042G>T
c.478G>T (p.Ala160Ser)
c.2336G>T
n.5304G>T
c.4561G>T (p.Ala1521Ser)
c.2957G>T
c.4717G>T (p.Ala1573Ser)
c.4621G>T (p.Ala1541Ser)
c.2326G>T (p.Ala776Ser)
c.4744G>T (p.Ala1582Ser)
c.4648G>T (p.Ala1550Ser)
c.4588G>T (p.Ala1530Ser)
c.4492G>T (p.Ala1498Ser)
c.4462G>T (p.Ala1488Ser)
6g.43038668C=CA1624352833CUL7n.2685G=
c.4465G= (p.Ala1489=)
n.1012G=
c.*1121G= (n.*1121G=)
n.5343G=
c.*2762G= (n.*2762G=)
n.4897G=
n.5042G=
c.478G= (p.Ala160=)
c.2336G=
n.5304G=
c.4561G= (p.Ala1521=)
c.2957G=
c.4717G= (p.Ala1573=)
c.4621G= (p.Ala1541=)
c.2326G= (p.Ala776=)
c.4744G= (p.Ala1582=)
c.4648G= (p.Ala1550=)
c.4588G= (p.Ala1530=)
c.4492G= (p.Ala1498=)
c.4462G= (p.Ala1488=)
6g.43038668C>GCA364190184CUL7n.2685G>C
c.4465G>C (p.Ala1489Pro)
n.1012G>C
c.*1121G>C (n.*1121G>C)
n.5343G>C
c.*2762G>C (n.*2762G>C)
n.4897G>C
n.5042G>C
c.478G>C (p.Ala160Pro)
c.2336G>C
n.5304G>C
c.4561G>C (p.Ala1521Pro)
c.2957G>C
c.4717G>C (p.Ala1573Pro)
c.4621G>C (p.Ala1541Pro)
c.2326G>C (p.Ala776Pro)
c.4744G>C (p.Ala1582Pro)
c.4648G>C (p.Ala1550Pro)
c.4588G>C (p.Ala1530Pro)
c.4492G>C (p.Ala1498Pro)
c.4462G>C (p.Ala1488Pro)
6g.43038668C>TCA364190188CUL7n.2685G>A
c.4465G>A (p.Ala1489Thr)
n.1012G>A
c.*1121G>A (n.*1121G>A)
n.5343G>A
c.*2762G>A (n.*2762G>A)
n.4897G>A
n.5042G>A
c.478G>A (p.Ala160Thr)
c.2336G>A
n.5304G>A
c.4561G>A (p.Ala1521Thr)
c.2957G>A
c.4717G>A (p.Ala1573Thr)
c.4621G>A (p.Ala1541Thr)
c.2326G>A (p.Ala776Thr)
c.4744G>A (p.Ala1582Thr)
c.4648G>A (p.Ala1550Thr)
c.4588G>A (p.Ala1530Thr)
c.4492G>A (p.Ala1498Thr)
c.4462G>A (p.Ala1488Thr)
 dbSNP gnomAD v2
6g.43038669C>ACA450259361CUL7n.2684G>T
c.4464G>T (p.Leu1488=)
n.1011G>T
c.*1120G>T (n.*1120G>T)
n.5342G>T
c.*2761G>T (n.*2761G>T)
n.4896G>T
n.5041G>T
c.477G>T (p.Leu159=)
c.2335G>T
n.5303G>T
c.4560G>T (p.Leu1520=)
c.2956G>T
c.4716G>T (p.Leu1572=)
c.4620G>T (p.Leu1540=)
c.2325G>T (p.Leu775=)
c.4743G>T (p.Leu1581=)
c.4647G>T (p.Leu1549=)
c.4587G>T (p.Leu1529=)
c.4491G>T (p.Leu1497=)
c.4461G>T (p.Leu1487=)
6g.43038669C>GCA450259362CUL7n.2684G>C
c.4464G>C (p.Leu1488=)
n.1011G>C
c.*1120G>C (n.*1120G>C)
n.5342G>C
c.*2761G>C (n.*2761G>C)
n.4896G>C
n.5041G>C
c.477G>C (p.Leu159=)
c.2335G>C
n.5303G>C
c.4560G>C (p.Leu1520=)
c.2956G>C
c.4716G>C (p.Leu1572=)
c.4620G>C (p.Leu1540=)
c.2325G>C (p.Leu775=)
c.4743G>C (p.Leu1581=)
c.4647G>C (p.Leu1549=)
c.4587G>C (p.Leu1529=)
c.4491G>C (p.Leu1497=)
c.4461G>C (p.Leu1487=)
6g.43038669C>TCA450259363CUL7n.2684G>A
c.4464G>A (p.Leu1488=)
n.1011G>A
c.*1120G>A (n.*1120G>A)
n.5342G>A
c.*2761G>A (n.*2761G>A)
n.4896G>A
n.5041G>A
c.477G>A (p.Leu159=)
c.2335G>A
n.5303G>A
c.4560G>A (p.Leu1520=)
c.2956G>A
c.4716G>A (p.Leu1572=)
c.4620G>A (p.Leu1540=)
c.2325G>A (p.Leu775=)
c.4743G>A (p.Leu1581=)
c.4647G>A (p.Leu1549=)
c.4587G>A (p.Leu1529=)
c.4491G>A (p.Leu1497=)
c.4461G>A (p.Leu1487=)
 ClinVar
6g.43038670A=CA1624352834CUL7n.2683T=
c.4463T= (p.Leu1488=)
n.1010T=
c.*1119T= (n.*1119T=)
n.5341T=
c.*2760T= (n.*2760T=)
n.4895T=
n.5040T=
c.476T= (p.Leu159=)
c.2334T=
n.5302T=
c.4559T= (p.Leu1520=)
c.2955T=
c.4715T= (p.Leu1572=)
c.4619T= (p.Leu1540=)
c.2324T= (p.Leu775=)
c.4742T= (p.Leu1581=)
c.4646T= (p.Leu1549=)
c.4586T= (p.Leu1529=)
c.4490T= (p.Leu1497=)
c.4460T= (p.Leu1487=)
6g.43038670A>CCA364190193CUL7n.2683T>G
c.4463T>G (p.Leu1488Arg)
n.1010T>G
c.*1119T>G (n.*1119T>G)
n.5341T>G
c.*2760T>G (n.*2760T>G)
n.4895T>G
n.5040T>G
c.476T>G (p.Leu159Arg)
c.2334T>G
n.5302T>G
c.4559T>G (p.Leu1520Arg)
c.2955T>G
c.4715T>G (p.Leu1572Arg)
c.4619T>G (p.Leu1540Arg)
c.2324T>G (p.Leu775Arg)
c.4742T>G (p.Leu1581Arg)
c.4646T>G (p.Leu1549Arg)
c.4586T>G (p.Leu1529Arg)
c.4490T>G (p.Leu1497Arg)
c.4460T>G (p.Leu1487Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.43038670A>GCA3813194CUL7n.2683T>C
c.4463T>C (p.Leu1488Pro)
n.1010T>C
c.*1119T>C (n.*1119T>C)
n.5341T>C
c.*2760T>C (n.*2760T>C)
n.4895T>C
n.5040T>C
c.476T>C (p.Leu159Pro)
c.2334T>C
n.5302T>C
c.4559T>C (p.Leu1520Pro)
c.2955T>C
c.4715T>C (p.Leu1572Pro)
c.4619T>C (p.Leu1540Pro)
c.2324T>C (p.Leu775Pro)
c.4742T>C (p.Leu1581Pro)
c.4646T>C (p.Leu1549Pro)
c.4586T>C (p.Leu1529Pro)
c.4490T>C (p.Leu1497Pro)
c.4460T>C (p.Leu1487Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038670A>TCA364190198CUL7n.2683T>A
c.4463T>A (p.Leu1488Gln)
n.1010T>A
c.*1119T>A (n.*1119T>A)
n.5341T>A
c.*2760T>A (n.*2760T>A)
n.4895T>A
n.5040T>A
c.476T>A (p.Leu159Gln)
c.2334T>A
n.5302T>A
c.4559T>A (p.Leu1520Gln)
c.2955T>A
c.4715T>A (p.Leu1572Gln)
c.4619T>A (p.Leu1540Gln)
c.2324T>A (p.Leu775Gln)
c.4742T>A (p.Leu1581Gln)
c.4646T>A (p.Leu1549Gln)
c.4586T>A (p.Leu1529Gln)
c.4490T>A (p.Leu1497Gln)
c.4460T>A (p.Leu1487Gln)
6g.43038671G>ACA450259364CUL7n.2682C>T
c.4462C>T (p.Leu1488=)
n.1009C>T
c.*1118C>T (n.*1118C>T)
n.5340C>T
c.*2759C>T (n.*2759C>T)
n.4894C>T
n.5039C>T
c.475C>T (p.Leu159=)
c.2333C>T
n.5301C>T
c.4558C>T (p.Leu1520=)
c.2954C>T
c.4714C>T (p.Leu1572=)
c.4618C>T (p.Leu1540=)
c.2323C>T (p.Leu775=)
c.4741C>T (p.Leu1581=)
c.4645C>T (p.Leu1549=)
c.4585C>T (p.Leu1529=)
c.4489C>T (p.Leu1497=)
c.4459C>T (p.Leu1487=)
6g.43038671G>CCA364190200CUL7n.2682C>G
c.4462C>G (p.Leu1488Val)
n.1009C>G
c.*1118C>G (n.*1118C>G)
n.5340C>G
c.*2759C>G (n.*2759C>G)
n.4894C>G
n.5039C>G
c.475C>G (p.Leu159Val)
c.2333C>G
n.5301C>G
c.4558C>G (p.Leu1520Val)
c.2954C>G
c.4714C>G (p.Leu1572Val)
c.4618C>G (p.Leu1540Val)
c.2323C>G (p.Leu775Val)
c.4741C>G (p.Leu1581Val)
c.4645C>G (p.Leu1549Val)
c.4585C>G (p.Leu1529Val)
c.4489C>G (p.Leu1497Val)
c.4459C>G (p.Leu1487Val)
6g.43038671G>TCA364190209CUL7n.2682C>A
c.4462C>A (p.Leu1488Met)
n.1009C>A
c.*1118C>A (n.*1118C>A)
n.5340C>A
c.*2759C>A (n.*2759C>A)
n.4894C>A
n.5039C>A
c.475C>A (p.Leu159Met)
c.2333C>A
n.5301C>A
c.4558C>A (p.Leu1520Met)
c.2954C>A
c.4714C>A (p.Leu1572Met)
c.4618C>A (p.Leu1540Met)
c.2323C>A (p.Leu775Met)
c.4741C>A (p.Leu1581Met)
c.4645C>A (p.Leu1549Met)
c.4585C>A (p.Leu1529Met)
c.4489C>A (p.Leu1497Met)
c.4459C>A (p.Leu1487Met)
6g.43038672C>ACA450259366CUL7n.2681G>T
c.4461G>T (p.Leu1487=)
n.1008G>T
c.*1117G>T (n.*1117G>T)
n.5339G>T
c.*2758G>T (n.*2758G>T)
n.4893G>T
n.5038G>T
c.474G>T (p.Leu158=)
c.2332G>T
n.5300G>T
c.4557G>T (p.Leu1519=)
c.2953G>T
c.4713G>T (p.Leu1571=)
c.4617G>T (p.Leu1539=)
c.2322G>T (p.Leu774=)
c.4740G>T (p.Leu1580=)
c.4644G>T (p.Leu1548=)
c.4584G>T (p.Leu1528=)
c.4488G>T (p.Leu1496=)
c.4458G>T (p.Leu1486=)
6g.43038672C>GCA450259368CUL7n.2681G>C
c.4461G>C (p.Leu1487=)
n.1008G>C
c.*1117G>C (n.*1117G>C)
n.5339G>C
c.*2758G>C (n.*2758G>C)
n.4893G>C
n.5038G>C
c.474G>C (p.Leu158=)
c.2332G>C
n.5300G>C
c.4557G>C (p.Leu1519=)
c.2953G>C
c.4713G>C (p.Leu1571=)
c.4617G>C (p.Leu1539=)
c.2322G>C (p.Leu774=)
c.4740G>C (p.Leu1580=)
c.4644G>C (p.Leu1548=)
c.4584G>C (p.Leu1528=)
c.4488G>C (p.Leu1496=)
c.4458G>C (p.Leu1486=)
6g.43038672C>TCA450259367CUL7n.2681G>A
c.4461G>A (p.Leu1487=)
n.1008G>A
c.*1117G>A (n.*1117G>A)
n.5339G>A
c.*2758G>A (n.*2758G>A)
n.4893G>A
n.5038G>A
c.474G>A (p.Leu158=)
c.2332G>A
n.5300G>A
c.4557G>A (p.Leu1519=)
c.2953G>A
c.4713G>A (p.Leu1571=)
c.4617G>A (p.Leu1539=)
c.2322G>A (p.Leu774=)
c.4740G>A (p.Leu1580=)
c.4644G>A (p.Leu1548=)
c.4584G>A (p.Leu1528=)
c.4488G>A (p.Leu1496=)
c.4458G>A (p.Leu1486=)
6g.43038674_43038682delCA2578621767CUL7n.2673_2681del
c.4453_4461del (p.Glu1485_Leu1487del)
n.1000_1008del
c.*1109_*1117del (n.*1109_*1117del)
n.5331_5339del
c.*2750_*2758del (n.*2750_*2758del)
n.4885_4893del
n.5030_5038del
c.466_474del (p.Glu156_Leu158del)
c.2324_2332del
n.5292_5300del
c.4549_4557del (p.Glu1517_Leu1519del)
c.2945_2953del
c.4705_4713del (p.Glu1569_Leu1571del)
c.4609_4617del (p.Glu1537_Leu1539del)
c.2314_2322del (p.Glu772_Leu774del)
c.4732_4740del (p.Glu1578_Leu1580del)
c.4636_4644del (p.Glu1546_Leu1548del)
c.4576_4584del (p.Glu1526_Leu1528del)
c.4480_4488del (p.Glu1494_Leu1496del)
c.4450_4458del (p.Glu1484_Leu1486del)
6g.43038673A>CCA364190218CUL7n.2680T>G
c.4460T>G (p.Leu1487Arg)
n.1007T>G
c.*1116T>G (n.*1116T>G)
n.5338T>G
c.*2757T>G (n.*2757T>G)
n.4892T>G
n.5037T>G
c.473T>G (p.Leu158Arg)
c.2331T>G
n.5299T>G
c.4556T>G (p.Leu1519Arg)
c.2952T>G
c.4712T>G (p.Leu1571Arg)
c.4616T>G (p.Leu1539Arg)
c.2321T>G (p.Leu774Arg)
c.4739T>G (p.Leu1580Arg)
c.4643T>G (p.Leu1548Arg)
c.4583T>G (p.Leu1528Arg)
c.4487T>G (p.Leu1496Arg)
c.4457T>G (p.Leu1486Arg)
6g.43038673A>GCA364190223CUL7n.2680T>C
c.4460T>C (p.Leu1487Pro)
n.1007T>C
c.*1116T>C (n.*1116T>C)
n.5338T>C
c.*2757T>C (n.*2757T>C)
n.4892T>C
n.5037T>C
c.473T>C (p.Leu158Pro)
c.2331T>C
n.5299T>C
c.4556T>C (p.Leu1519Pro)
c.2952T>C
c.4712T>C (p.Leu1571Pro)
c.4616T>C (p.Leu1539Pro)
c.2321T>C (p.Leu774Pro)
c.4739T>C (p.Leu1580Pro)
c.4643T>C (p.Leu1548Pro)
c.4583T>C (p.Leu1528Pro)
c.4487T>C (p.Leu1496Pro)
c.4457T>C (p.Leu1486Pro)
6g.43038673A>TCA364190237CUL7n.2680T>A
c.4460T>A (p.Leu1487Gln)
n.1007T>A
c.*1116T>A (n.*1116T>A)
n.5338T>A
c.*2757T>A (n.*2757T>A)
n.4892T>A
n.5037T>A
c.473T>A (p.Leu158Gln)
c.2331T>A
n.5299T>A
c.4556T>A (p.Leu1519Gln)
c.2952T>A
c.4712T>A (p.Leu1571Gln)
c.4616T>A (p.Leu1539Gln)
c.2321T>A (p.Leu774Gln)
c.4739T>A (p.Leu1580Gln)
c.4643T>A (p.Leu1548Gln)
c.4583T>A (p.Leu1528Gln)
c.4487T>A (p.Leu1496Gln)
c.4457T>A (p.Leu1486Gln)
6g.43038674G>ACA3813195CUL7n.2679C>T
c.4459C>T (p.Leu1487=)
n.1006C>T
c.*1115C>T (n.*1115C>T)
n.5337C>T
c.*2756C>T (n.*2756C>T)
n.4891C>T
n.5036C>T
c.472C>T (p.Leu158=)
c.2330C>T
n.5298C>T
c.4555C>T (p.Leu1519=)
c.2951C>T
c.4711C>T (p.Leu1571=)
c.4615C>T (p.Leu1539=)
c.2320C>T (p.Leu774=)
c.4738C>T (p.Leu1580=)
c.4642C>T (p.Leu1548=)
c.4582C>T (p.Leu1528=)
c.4486C>T (p.Leu1496=)
c.4456C>T (p.Leu1486=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43038674G>CCA364190261CUL7n.2679C>G
c.4459C>G (p.Leu1487Val)
n.1006C>G
c.*1115C>G (n.*1115C>G)
n.5337C>G
c.*2756C>G (n.*2756C>G)
n.4891C>G
n.5036C>G
c.472C>G (p.Leu158Val)
c.2330C>G
n.5298C>G
c.4555C>G (p.Leu1519Val)
c.2951C>G
c.4711C>G (p.Leu1571Val)
c.4615C>G (p.Leu1539Val)
c.2320C>G (p.Leu774Val)
c.4738C>G (p.Leu1580Val)
c.4642C>G (p.Leu1548Val)
c.4582C>G (p.Leu1528Val)
c.4486C>G (p.Leu1496Val)
c.4456C>G (p.Leu1486Val)
6g.43038674G=CA1624352835CUL7n.2679C=
c.4459C= (p.Leu1487=)
n.1006C=
c.*1115C= (n.*1115C=)
n.5337C=
c.*2756C= (n.*2756C=)
n.4891C=
n.5036C=
c.472C= (p.Leu158=)
c.2330C=
n.5298C=
c.4555C= (p.Leu1519=)
c.2951C=
c.4711C= (p.Leu1571=)
c.4615C= (p.Leu1539=)
c.2320C= (p.Leu774=)
c.4738C= (p.Leu1580=)
c.4642C= (p.Leu1548=)
c.4582C= (p.Leu1528=)
c.4486C= (p.Leu1496=)
c.4456C= (p.Leu1486=)
6g.43038674G>TCA364190257CUL7n.2679C>A
c.4459C>A (p.Leu1487Met)
n.1006C>A
c.*1115C>A (n.*1115C>A)
n.5337C>A
c.*2756C>A (n.*2756C>A)
n.4891C>A
n.5036C>A
c.472C>A (p.Leu158Met)
c.2330C>A
n.5298C>A
c.4555C>A (p.Leu1519Met)
c.2951C>A
c.4711C>A (p.Leu1571Met)
c.4615C>A (p.Leu1539Met)
c.2320C>A (p.Leu774Met)
c.4738C>A (p.Leu1580Met)
c.4642C>A (p.Leu1548Met)
c.4582C>A (p.Leu1528Met)
c.4486C>A (p.Leu1496Met)
c.4456C>A (p.Leu1486Met)
6g.43038675A>CCA364190276CUL7n.2678T>G
c.4458T>G (p.Ser1486Arg)
n.1005T>G
c.*1114T>G (n.*1114T>G)
n.5336T>G
c.*2755T>G (n.*2755T>G)
n.4890T>G
n.5035T>G
c.471T>G (p.Ser157Arg)
c.2329T>G
n.5297T>G
c.4554T>G (p.Ser1518Arg)
c.2950T>G
c.4710T>G (p.Ser1570Arg)
c.4614T>G (p.Ser1538Arg)
c.2319T>G (p.Ser773Arg)
c.4737T>G (p.Ser1579Arg)
c.4641T>G (p.Ser1547Arg)
c.4581T>G (p.Ser1527Arg)
c.4485T>G (p.Ser1495Arg)
c.4455T>G (p.Ser1485Arg)
6g.43038675A>GCA450259369CUL7n.2678T>C
c.4458T>C (p.Ser1486=)
n.1005T>C
c.*1114T>C (n.*1114T>C)
n.5336T>C
c.*2755T>C (n.*2755T>C)
n.4890T>C
n.5035T>C
c.471T>C (p.Ser157=)
c.2329T>C
n.5297T>C
c.4554T>C (p.Ser1518=)
c.2950T>C
c.4710T>C (p.Ser1570=)
c.4614T>C (p.Ser1538=)
c.2319T>C (p.Ser773=)
c.4737T>C (p.Ser1579=)
c.4641T>C (p.Ser1547=)
c.4581T>C (p.Ser1527=)
c.4485T>C (p.Ser1495=)
c.4455T>C (p.Ser1485=)
6g.43038675A>TCA364190280CUL7n.2678T>A
c.4458T>A (p.Ser1486Arg)
n.1005T>A
c.*1114T>A (n.*1114T>A)
n.5336T>A
c.*2755T>A (n.*2755T>A)
n.4890T>A
n.5035T>A
c.471T>A (p.Ser157Arg)
c.2329T>A
n.5297T>A
c.4554T>A (p.Ser1518Arg)
c.2950T>A
c.4710T>A (p.Ser1570Arg)
c.4614T>A (p.Ser1538Arg)
c.2319T>A (p.Ser773Arg)
c.4737T>A (p.Ser1579Arg)
c.4641T>A (p.Ser1547Arg)
c.4581T>A (p.Ser1527Arg)
c.4485T>A (p.Ser1495Arg)
c.4455T>A (p.Ser1485Arg)
6g.43038676C>ACA364190285CUL7n.2677G>T
c.4457G>T (p.Ser1486Ile)
n.1004G>T
c.*1113G>T (n.*1113G>T)
n.5335G>T
c.*2754G>T (n.*2754G>T)
n.4889G>T
n.5034G>T
c.470G>T (p.Ser157Ile)
c.2328G>T
n.5296G>T
c.4553G>T (p.Ser1518Ile)
c.2949G>T
c.4709G>T (p.Ser1570Ile)
c.4613G>T (p.Ser1538Ile)
c.2318G>T (p.Ser773Ile)
c.4736G>T (p.Ser1579Ile)
c.4640G>T (p.Ser1547Ile)
c.4580G>T (p.Ser1527Ile)
c.4484G>T (p.Ser1495Ile)
c.4454G>T (p.Ser1485Ile)
 gnomAD v4
6g.43038676C>GCA364190290CUL7n.2677G>C
c.4457G>C (p.Ser1486Thr)
n.1004G>C
c.*1113G>C (n.*1113G>C)
n.5335G>C
c.*2754G>C (n.*2754G>C)
n.4889G>C
n.5034G>C
c.470G>C (p.Ser157Thr)
c.2328G>C
n.5296G>C
c.4553G>C (p.Ser1518Thr)
c.2949G>C
c.4709G>C (p.Ser1570Thr)
c.4613G>C (p.Ser1538Thr)
c.2318G>C (p.Ser773Thr)
c.4736G>C (p.Ser1579Thr)
c.4640G>C (p.Ser1547Thr)
c.4580G>C (p.Ser1527Thr)
c.4484G>C (p.Ser1495Thr)
c.4454G>C (p.Ser1485Thr)
6g.43038676C>TCA364190293CUL7n.2677G>A
c.4457G>A (p.Ser1486Asn)
n.1004G>A
c.*1113G>A (n.*1113G>A)
n.5335G>A
c.*2754G>A (n.*2754G>A)
n.4889G>A
n.5034G>A
c.470G>A (p.Ser157Asn)
c.2328G>A
n.5296G>A
c.4553G>A (p.Ser1518Asn)
c.2949G>A
c.4709G>A (p.Ser1570Asn)
c.4613G>A (p.Ser1538Asn)
c.2318G>A (p.Ser773Asn)
c.4736G>A (p.Ser1579Asn)
c.4640G>A (p.Ser1547Asn)
c.4580G>A (p.Ser1527Asn)
c.4484G>A (p.Ser1495Asn)
c.4454G>A (p.Ser1485Asn)
6g.43038679_43038680delCA450259374CUL7n.2676_2677del
c.4456_4457del (p.Leu1487AlafsTer?)
n.1003_1004del
c.*1112_*1113del (n.*1112_*1113del)
n.5334_5335del
c.*2753_*2754del (n.*2753_*2754del)
n.4888_4889del
n.5033_5034del
c.469_470del (p.Leu158AlafsTer?)
c.2327_2328del
n.5295_5296del
c.4552_4553del (p.Leu1519AlafsTer?)
c.2948_2949del
c.4708_4709del (p.Leu1571AlafsTer?)
c.4612_4613del (p.Leu1539AlafsTer?)
c.2317_2318del (p.Leu774AlafsTer?)
c.4735_4736del (p.Leu1580AlafsTer?)
c.4639_4640del (p.Leu1548AlafsTer?)
c.4579_4580del (p.Leu1528AlafsTer?)
c.4483_4484del (p.Leu1496AlafsTer?)
c.4453_4454del (p.Leu1486AlafsTer?)
6g.43038677T>ACA364190298CUL7n.2676A>T
c.4456A>T (p.Ser1486Cys)
n.1003A>T
c.*1112A>T (n.*1112A>T)
n.5334A>T
c.*2753A>T (n.*2753A>T)
n.4888A>T
n.5033A>T
c.469A>T (p.Ser157Cys)
c.2327A>T
n.5295A>T
c.4552A>T (p.Ser1518Cys)
c.2948A>T
c.4708A>T (p.Ser1570Cys)
c.4612A>T (p.Ser1538Cys)
c.2317A>T (p.Ser773Cys)
c.4735A>T (p.Ser1579Cys)
c.4639A>T (p.Ser1547Cys)
c.4579A>T (p.Ser1527Cys)
c.4483A>T (p.Ser1495Cys)
c.4453A>T (p.Ser1485Cys)
6g.43038677T>CCA364190299CUL7n.2676A>G
c.4456A>G (p.Ser1486Gly)
n.1003A>G
c.*1112A>G (n.*1112A>G)
n.5334A>G
c.*2753A>G (n.*2753A>G)
n.4888A>G
n.5033A>G
c.469A>G (p.Ser157Gly)
c.2327A>G
n.5295A>G
c.4552A>G (p.Ser1518Gly)
c.2948A>G
c.4708A>G (p.Ser1570Gly)
c.4612A>G (p.Ser1538Gly)
c.2317A>G (p.Ser773Gly)
c.4735A>G (p.Ser1579Gly)
c.4639A>G (p.Ser1547Gly)
c.4579A>G (p.Ser1527Gly)
c.4483A>G (p.Ser1495Gly)
c.4453A>G (p.Ser1485Gly)
6g.43038677T>GCA364190300CUL7n.2676A>C
c.4456A>C (p.Ser1486Arg)
n.1003A>C
c.*1112A>C (n.*1112A>C)
n.5334A>C
c.*2753A>C (n.*2753A>C)
n.4888A>C
n.5033A>C
c.469A>C (p.Ser157Arg)
c.2327A>C
n.5295A>C
c.4552A>C (p.Ser1518Arg)
c.2948A>C
c.4708A>C (p.Ser1570Arg)
c.4612A>C (p.Ser1538Arg)
c.2317A>C (p.Ser773Arg)
c.4735A>C (p.Ser1579Arg)
c.4639A>C (p.Ser1547Arg)
c.4579A>C (p.Ser1527Arg)
c.4483A>C (p.Ser1495Arg)
c.4453A>C (p.Ser1485Arg)
6g.43038678C>ACA364190302CUL7n.2675G>T
c.4455G>T (p.Glu1485Asp)
n.1002G>T
c.*1111G>T (n.*1111G>T)
n.5333G>T
c.*2752G>T (n.*2752G>T)
n.4887G>T
n.5032G>T
c.468G>T (p.Glu156Asp)
c.2326G>T
n.5294G>T
c.4551G>T (p.Glu1517Asp)
c.2947G>T
c.4707G>T (p.Glu1569Asp)
c.4611G>T (p.Glu1537Asp)
c.2316G>T (p.Glu772Asp)
c.4734G>T (p.Glu1578Asp)
c.4638G>T (p.Glu1546Asp)
c.4578G>T (p.Glu1526Asp)
c.4482G>T (p.Glu1494Asp)
c.4452G>T (p.Glu1484Asp)
6g.43038678C=CA1624352836CUL7n.2675G=
c.4455G= (p.Glu1485=)
n.1002G=
c.*1111G= (n.*1111G=)
n.5333G=
c.*2752G= (n.*2752G=)
n.4887G=
n.5032G=
c.468G= (p.Glu156=)
c.2326G=
n.5294G=
c.4551G= (p.Glu1517=)
c.2947G=
c.4707G= (p.Glu1569=)
c.4611G= (p.Glu1537=)
c.2316G= (p.Glu772=)
c.4734G= (p.Glu1578=)
c.4638G= (p.Glu1546=)
c.4578G= (p.Glu1526=)
c.4482G= (p.Glu1494=)
c.4452G= (p.Glu1484=)
6g.43038678C>GCA364190305CUL7n.2675G>C
c.4455G>C (p.Glu1485Asp)
n.1002G>C
c.*1111G>C (n.*1111G>C)
n.5333G>C
c.*2752G>C (n.*2752G>C)
n.4887G>C
n.5032G>C
c.468G>C (p.Glu156Asp)
c.2326G>C
n.5294G>C
c.4551G>C (p.Glu1517Asp)
c.2947G>C
c.4707G>C (p.Glu1569Asp)
c.4611G>C (p.Glu1537Asp)
c.2316G>C (p.Glu772Asp)
c.4734G>C (p.Glu1578Asp)
c.4638G>C (p.Glu1546Asp)
c.4578G>C (p.Glu1526Asp)
c.4482G>C (p.Glu1494Asp)
c.4452G>C (p.Glu1484Asp)
6g.43038678C>TCA450259375CUL7n.2675G>A
c.4455G>A (p.Glu1485=)
n.1002G>A
c.*1111G>A (n.*1111G>A)
n.5333G>A
c.*2752G>A (n.*2752G>A)
n.4887G>A
n.5032G>A
c.468G>A (p.Glu156=)
c.2326G>A
n.5294G>A
c.4551G>A (p.Glu1517=)
c.2947G>A
c.4707G>A (p.Glu1569=)
c.4611G>A (p.Glu1537=)
c.2316G>A (p.Glu772=)
c.4734G>A (p.Glu1578=)
c.4638G>A (p.Glu1546=)
c.4578G>A (p.Glu1526=)
c.4482G>A (p.Glu1494=)
c.4452G>A (p.Glu1484=)
 dbSNP gnomAD v2 gnomAD v4
6g.43038679T>ACA364190317CUL7n.2674A>T
c.4454A>T (p.Glu1485Val)
n.1001A>T
c.*1110A>T (n.*1110A>T)
n.5332A>T
c.*2751A>T (n.*2751A>T)
n.4886A>T
n.5031A>T
c.467A>T (p.Glu156Val)
c.2325A>T
n.5293A>T
c.4550A>T (p.Glu1517Val)
c.2946A>T
c.4706A>T (p.Glu1569Val)
c.4610A>T (p.Glu1537Val)
c.2315A>T (p.Glu772Val)
c.4733A>T (p.Glu1578Val)
c.4637A>T (p.Glu1546Val)
c.4577A>T (p.Glu1526Val)
c.4481A>T (p.Glu1494Val)
c.4451A>T (p.Glu1484Val)
6g.43038679T>CCA364190322CUL7n.2674A>G
c.4454A>G (p.Glu1485Gly)
n.1001A>G
c.*1110A>G (n.*1110A>G)
n.5332A>G
c.*2751A>G (n.*2751A>G)
n.4886A>G
n.5031A>G
c.467A>G (p.Glu156Gly)
c.2325A>G
n.5293A>G
c.4550A>G (p.Glu1517Gly)
c.2946A>G
c.4706A>G (p.Glu1569Gly)
c.4610A>G (p.Glu1537Gly)
c.2315A>G (p.Glu772Gly)
c.4733A>G (p.Glu1578Gly)
c.4637A>G (p.Glu1546Gly)
c.4577A>G (p.Glu1526Gly)
c.4481A>G (p.Glu1494Gly)
c.4451A>G (p.Glu1484Gly)
 COSMIC COSMIC
6g.43038679T>GCA364190331CUL7n.2674A>C
c.4454A>C (p.Glu1485Ala)
n.1001A>C
c.*1110A>C (n.*1110A>C)
n.5332A>C
c.*2751A>C (n.*2751A>C)
n.4886A>C
n.5031A>C
c.467A>C (p.Glu156Ala)
c.2325A>C
n.5293A>C
c.4550A>C (p.Glu1517Ala)
c.2946A>C
c.4706A>C (p.Glu1569Ala)
c.4610A>C (p.Glu1537Ala)
c.2315A>C (p.Glu772Ala)
c.4733A>C (p.Glu1578Ala)
c.4637A>C (p.Glu1546Ala)
c.4577A>C (p.Glu1526Ala)
c.4481A>C (p.Glu1494Ala)
c.4451A>C (p.Glu1484Ala)
6g.43038680C>ACA364190333CUL7n.2673G>T
c.4453G>T (p.Glu1485Ter)
n.1000G>T
c.*1109G>T (n.*1109G>T)
n.5331G>T
c.*2750G>T (n.*2750G>T)
n.4885G>T
n.5030G>T
c.466G>T (p.Glu156Ter)
c.2324G>T
n.5292G>T
c.4549G>T (p.Glu1517Ter)
c.2945G>T
c.4705G>T (p.Glu1569Ter)
c.4609G>T (p.Glu1537Ter)
c.2314G>T (p.Glu772Ter)
c.4732G>T (p.Glu1578Ter)
c.4636G>T (p.Glu1546Ter)
c.4576G>T (p.Glu1526Ter)
c.4480G>T (p.Glu1494Ter)
c.4450G>T (p.Glu1484Ter)
6g.43038680C=CA1624352838CUL7n.2673G=
c.4453G= (p.Glu1485=)
n.1000G=
c.*1109G= (n.*1109G=)
n.5331G=
c.*2750G= (n.*2750G=)
n.4885G=
n.5030G=
c.466G= (p.Glu156=)
c.2324G=
n.5292G=
c.4549G= (p.Glu1517=)
c.2945G=
c.4705G= (p.Glu1569=)
c.4609G= (p.Glu1537=)
c.2314G= (p.Glu772=)
c.4732G= (p.Glu1578=)
c.4636G= (p.Glu1546=)
c.4576G= (p.Glu1526=)
c.4480G= (p.Glu1494=)
c.4450G= (p.Glu1484=)
6g.43038680C>GCA364190337CUL7n.2673G>C
c.4453G>C (p.Glu1485Gln)
n.1000G>C
c.*1109G>C (n.*1109G>C)
n.5331G>C
c.*2750G>C (n.*2750G>C)
n.4885G>C
n.5030G>C
c.466G>C (p.Glu156Gln)
c.2324G>C
n.5292G>C
c.4549G>C (p.Glu1517Gln)
c.2945G>C
c.4705G>C (p.Glu1569Gln)
c.4609G>C (p.Glu1537Gln)
c.2314G>C (p.Glu772Gln)
c.4732G>C (p.Glu1578Gln)
c.4636G>C (p.Glu1546Gln)
c.4576G>C (p.Glu1526Gln)
c.4480G>C (p.Glu1494Gln)
c.4450G>C (p.Glu1484Gln)
6g.43038680C>TCA364190332CUL7n.2673G>A
c.4453G>A (p.Glu1485Lys)
n.1000G>A
c.*1109G>A (n.*1109G>A)
n.5331G>A
c.*2750G>A (n.*2750G>A)
n.4885G>A
n.5030G>A
c.466G>A (p.Glu156Lys)
c.2324G>A
n.5292G>A
c.4549G>A (p.Glu1517Lys)
c.2945G>A
c.4705G>A (p.Glu1569Lys)
c.4609G>A (p.Glu1537Lys)
c.2314G>A (p.Glu772Lys)
c.4732G>A (p.Glu1578Lys)
c.4636G>A (p.Glu1546Lys)
c.4576G>A (p.Glu1526Lys)
c.4480G>A (p.Glu1494Lys)
c.4450G>A (p.Glu1484Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.43038680_43038682delinsCCACA1624352837CUL7n.2671_2673delinsTGG
c.4451_4453delinsTGG (p.Val1484=)
n.998_1000delinsTGG
c.*1107_*1109delinsTGG (n.*1107_*1109delinsTGG)
n.5329_5331delinsTGG
c.*2748_*2750delinsTGG (n.*2748_*2750delinsTGG)
n.4883_4885delinsTGG
n.5028_5030delinsTGG
c.464_466delinsTGG (p.Val155=)
c.2322_2324delinsTGG
n.5290_5292delinsTGG
c.4547_4549delinsTGG (p.Val1516=)
c.2943_2945delinsTGG
c.4703_4705delinsTGG (p.Val1568=)
c.4607_4609delinsTGG (p.Val1536=)
c.2312_2314delinsTGG (p.Val771=)
c.4730_4732delinsTGG (p.Val1577=)
c.4634_4636delinsTGG (p.Val1545=)
c.4574_4576delinsTGG (p.Val1525=)
c.4478_4480delinsTGG (p.Val1493=)
c.4448_4450delinsTGG (p.Val1483=)
6g.43038681C>ACA450259378CUL7n.2672G>T
c.4452G>T (p.Val1484=)
n.999G>T
c.*1108G>T (n.*1108G>T)
n.5330G>T
c.*2749G>T (n.*2749G>T)
n.4884G>T
n.5029G>T
c.465G>T (p.Val155=)
c.2323G>T
n.5291G>T
c.4548G>T (p.Val1516=)
c.2944G>T
c.4704G>T (p.Val1568=)
c.4608G>T (p.Val1536=)
c.2313G>T (p.Val771=)
c.4731G>T (p.Val1577=)
c.4635G>T (p.Val1545=)
c.4575G>T (p.Val1525=)
c.4479G>T (p.Val1493=)
c.4449G>T (p.Val1483=)
6g.43038681C=CA1624352839CUL7n.2672G=
c.4452G= (p.Val1484=)
n.999G=
c.*1108G= (n.*1108G=)
n.5330G=
c.*2749G= (n.*2749G=)
n.4884G=
n.5029G=
c.465G= (p.Val155=)
c.2323G=
n.5291G=
c.4548G= (p.Val1516=)
c.2944G=
c.4704G= (p.Val1568=)
c.4608G= (p.Val1536=)
c.2313G= (p.Val771=)
c.4731G= (p.Val1577=)
c.4635G= (p.Val1545=)
c.4575G= (p.Val1525=)
c.4479G= (p.Val1493=)
c.4449G= (p.Val1483=)
6g.43038681C>GCA450259379CUL7n.2672G>C
c.4452G>C (p.Val1484=)
n.999G>C
c.*1108G>C (n.*1108G>C)
n.5330G>C
c.*2749G>C (n.*2749G>C)
n.4884G>C
n.5029G>C
c.465G>C (p.Val155=)
c.2323G>C
n.5291G>C
c.4548G>C (p.Val1516=)
c.2944G>C
c.4704G>C (p.Val1568=)
c.4608G>C (p.Val1536=)
c.2313G>C (p.Val771=)
c.4731G>C (p.Val1577=)
c.4635G>C (p.Val1545=)
c.4575G>C (p.Val1525=)
c.4479G>C (p.Val1493=)
c.4449G>C (p.Val1483=)
6g.43038681C>TCA450259380CUL7n.2672G>A
c.4452G>A (p.Val1484=)
n.999G>A
c.*1108G>A (n.*1108G>A)
n.5330G>A
c.*2749G>A (n.*2749G>A)
n.4884G>A
n.5029G>A
c.465G>A (p.Val155=)
c.2323G>A
n.5291G>A
c.4548G>A (p.Val1516=)
c.2944G>A
c.4704G>A (p.Val1568=)
c.4608G>A (p.Val1536=)
c.2313G>A (p.Val771=)
c.4731G>A (p.Val1577=)
c.4635G>A (p.Val1545=)
c.4575G>A (p.Val1525=)
c.4479G>A (p.Val1493=)
c.4449G>A (p.Val1483=)
 dbSNP
6g.43038683_43038684delCA251900CUL7n.2671_2672del
c.4451_4452del (p.Val1484GlyfsTer?)
n.998_999del
c.*1107_*1108del (n.*1107_*1108del)
n.5329_5330del
c.*2748_*2749del (n.*2748_*2749del)
n.4883_4884del
n.5028_5029del
c.464_465del (p.Val155GlyfsTer?)
c.2322_2323del
n.5290_5291del
c.4547_4548del (p.Val1516GlyfsTer?)
c.2943_2944del
c.4703_4704del (p.Val1568GlyfsTer?)
c.4607_4608del (p.Val1536GlyfsTer?)
c.2312_2313del (p.Val771GlyfsTer?)
c.4730_4731del (p.Val1577GlyfsTer?)
c.4634_4635del (p.Val1545GlyfsTer?)
c.4574_4575del (p.Val1525GlyfsTer?)
c.4478_4479del (p.Val1493GlyfsTer?)
c.4448_4449del (p.Val1483GlyfsTer?)
 ClinVar dbSNP gnomAD v4
6g.43038682A>CCA364190347CUL7n.2671T>G
c.4451T>G (p.Val1484Gly)
n.998T>G
c.*1107T>G (n.*1107T>G)
n.5329T>G
c.*2748T>G (n.*2748T>G)
n.4883T>G
n.5028T>G
c.464T>G (p.Val155Gly)
c.2322T>G
n.5290T>G
c.4547T>G (p.Val1516Gly)
c.2943T>G
c.4703T>G (p.Val1568Gly)
c.4607T>G (p.Val1536Gly)
c.2312T>G (p.Val771Gly)
c.4730T>G (p.Val1577Gly)
c.4634T>G (p.Val1545Gly)
c.4574T>G (p.Val1525Gly)
c.4478T>G (p.Val1493Gly)
c.4448T>G (p.Val1483Gly)
6g.43038682A>GCA364190355CUL7n.2671T>C
c.4451T>C (p.Val1484Ala)
n.998T>C
c.*1107T>C (n.*1107T>C)
n.5329T>C
c.*2748T>C (n.*2748T>C)
n.4883T>C
n.5028T>C
c.464T>C (p.Val155Ala)
c.2322T>C
n.5290T>C
c.4547T>C (p.Val1516Ala)
c.2943T>C
c.4703T>C (p.Val1568Ala)
c.4607T>C (p.Val1536Ala)
c.2312T>C (p.Val771Ala)
c.4730T>C (p.Val1577Ala)
c.4634T>C (p.Val1545Ala)
c.4574T>C (p.Val1525Ala)
c.4478T>C (p.Val1493Ala)
c.4448T>C (p.Val1483Ala)
6g.43038682A>TCA364190356CUL7n.2671T>A
c.4451T>A (p.Val1484Glu)
n.998T>A
c.*1107T>A (n.*1107T>A)
n.5329T>A
c.*2748T>A (n.*2748T>A)
n.4883T>A
n.5028T>A
c.464T>A (p.Val155Glu)
c.2322T>A
n.5290T>A
c.4547T>A (p.Val1516Glu)
c.2943T>A
c.4703T>A (p.Val1568Glu)
c.4607T>A (p.Val1536Glu)
c.2312T>A (p.Val771Glu)
c.4730T>A (p.Val1577Glu)
c.4634T>A (p.Val1545Glu)
c.4574T>A (p.Val1525Glu)
c.4478T>A (p.Val1493Glu)
c.4448T>A (p.Val1483Glu)
6g.43038683C>ACA364190357CUL7n.2670G>T
c.4450G>T (p.Val1484Leu)
n.997G>T
c.*1106G>T (n.*1106G>T)
n.5328G>T
c.*2747G>T (n.*2747G>T)
n.4882G>T
n.5027G>T
c.463G>T (p.Val155Leu)
c.2321G>T
n.5289G>T
c.4546G>T (p.Val1516Leu)
c.2942G>T
c.4702G>T (p.Val1568Leu)
c.4606G>T (p.Val1536Leu)
c.2311G>T (p.Val771Leu)
c.4729G>T (p.Val1577Leu)
c.4633G>T (p.Val1545Leu)
c.4573G>T (p.Val1525Leu)
c.4477G>T (p.Val1493Leu)
c.4447G>T (p.Val1483Leu)
6g.43038683C>GCA364190361CUL7n.2670G>C
c.4450G>C (p.Val1484Leu)
n.997G>C
c.*1106G>C (n.*1106G>C)
n.5328G>C
c.*2747G>C (n.*2747G>C)
n.4882G>C
n.5027G>C
c.463G>C (p.Val155Leu)
c.2321G>C
n.5289G>C
c.4546G>C (p.Val1516Leu)
c.2942G>C
c.4702G>C (p.Val1568Leu)
c.4606G>C (p.Val1536Leu)
c.2311G>C (p.Val771Leu)
c.4729G>C (p.Val1577Leu)
c.4633G>C (p.Val1545Leu)
c.4573G>C (p.Val1525Leu)
c.4477G>C (p.Val1493Leu)
c.4447G>C (p.Val1483Leu)
6g.43038683C>TCA364190362CUL7n.2670G>A
c.4450G>A (p.Val1484Met)
n.997G>A
c.*1106G>A (n.*1106G>A)
n.5328G>A
c.*2747G>A (n.*2747G>A)
n.4882G>A
n.5027G>A
c.463G>A (p.Val155Met)
c.2321G>A
n.5289G>A
c.4546G>A (p.Val1516Met)
c.2942G>A
c.4702G>A (p.Val1568Met)
c.4606G>A (p.Val1536Met)
c.2311G>A (p.Val771Met)
c.4729G>A (p.Val1577Met)
c.4633G>A (p.Val1545Met)
c.4573G>A (p.Val1525Met)
c.4477G>A (p.Val1493Met)
c.4447G>A (p.Val1483Met)

Number of alleles fetched