Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.119341667_119341670delCA017116C1QTNF5,MFRPc.1622_1625del (p.Val541AlafsTer?)
c.1268_1271del (p.Val423AlafsTer?)
c.493_496del
c.-1015_-1012del (n.-1015_-1012del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341667C>ACA382971520C1QTNF5,MFRPc.1621G>T (p.Val541Phe)
c.1267G>T (p.Val423Phe)
c.492G>T
c.-1016G>T (n.-1016G>T)
11g.119341667C=CA2003917680C1QTNF5,MFRPc.1621G= (p.Val541=)
c.1267G= (p.Val423=)
c.492G=
c.-1016G= (n.-1016G=)
11g.119341667C>GCA382971521C1QTNF5,MFRPc.1621G>C (p.Val541Leu)
c.1267G>C (p.Val423Leu)
c.492G>C
c.-1016G>C (n.-1016G>C)
11g.119341667C>TCA6320052C1QTNF5,MFRPc.1621G>A (p.Val541Ile)
c.1267G>A (p.Val423Ile)
c.492G>A
c.-1016G>A (n.-1016G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341668A>CCA477155362C1QTNF5,MFRPc.1620T>G (p.Ser540=)
c.1266T>G (p.Ser422=)
c.491T>G
c.-1017T>G (n.-1017T>G)
11g.119341668A>GCA477155364C1QTNF5,MFRPc.1620T>C (p.Ser540=)
c.1266T>C (p.Ser422=)
c.491T>C
c.-1017T>C (n.-1017T>C)
11g.119341668A>TCA477155366C1QTNF5,MFRPc.1620T>A (p.Ser540=)
c.1266T>A (p.Ser422=)
c.491T>A
c.-1017T>A (n.-1017T>A)
11g.119341669G>ACA6320053C1QTNF5,MFRPc.1619C>T (p.Ser540Phe)
c.1265C>T (p.Ser422Phe)
c.490C>T
c.-1018C>T (n.-1018C>T)
 dbSNP ExAC gnomAD v2
11g.119341669G>CCA382971522C1QTNF5,MFRPc.1619C>G (p.Ser540Cys)
c.1265C>G (p.Ser422Cys)
c.490C>G
c.-1018C>G (n.-1018C>G)
 COSMIC
11g.119341669G=CA2003917684C1QTNF5,MFRPc.1619C= (p.Ser540=)
c.1265C= (p.Ser422=)
c.490C=
c.-1018C= (n.-1018C=)
11g.119341669G>TCA382971523C1QTNF5,MFRPc.1619C>A (p.Ser540Tyr)
c.1265C>A (p.Ser422Tyr)
c.490C>A
c.-1018C>A (n.-1018C>A)
11g.119341670A>CCA382971524C1QTNF5,MFRPc.1618T>G (p.Ser540Ala)
c.1264T>G (p.Ser422Ala)
c.489T>G
c.-1019T>G (n.-1019T>G)
11g.119341670A>GCA382971525C1QTNF5,MFRPc.1618T>C (p.Ser540Pro)
c.1264T>C (p.Ser422Pro)
c.489T>C
c.-1019T>C (n.-1019T>C)
 gnomAD v4
11g.119341670A>TCA382971526C1QTNF5,MFRPc.1618T>A (p.Ser540Thr)
c.1264T>A (p.Ser422Thr)
c.489T>A
c.-1019T>A (n.-1019T>A)
11g.119341671G>ACA477155369C1QTNF5,MFRPc.1617C>T (p.Arg539=)
c.1263C>T (p.Arg421=)
c.488C>T
c.-1020C>T (n.-1020C>T)
 dbSNP
11g.119341671G>CCA477155370C1QTNF5,MFRPc.1617C>G (p.Arg539=)
c.1263C>G (p.Arg421=)
c.488C>G
c.-1020C>G (n.-1020C>G)
11g.119341671G=CA2003917687C1QTNF5,MFRPc.1617C= (p.Arg539=)
c.1263C= (p.Arg421=)
c.488C=
c.-1020C= (n.-1020C=)
11g.119341671G>TCA477155371C1QTNF5,MFRPc.1617C>A (p.Arg539=)
c.1263C>A (p.Arg421=)
c.488C>A
c.-1020C>A (n.-1020C>A)
11g.119341673_119341675dupCA2793833840C1QTNF5,MFRPc.1615_1617dup (p.Arg539_Ser540insArg)
c.1261_1263dup (p.Arg421_Ser422insArg)
c.486_488dup
c.-1022_-1020dup (n.-1022_-1020dup)
11g.119341672C>ACA382971528C1QTNF5,MFRPc.1616G>T (p.Arg539Leu)
c.1262G>T (p.Arg421Leu)
c.487G>T
c.-1021G>T (n.-1021G>T)
 dbSNP gnomAD v3 gnomAD v4
11g.119341672C=CA2003917693C1QTNF5,MFRPc.1616G= (p.Arg539=)
c.1262G= (p.Arg421=)
c.487G=
c.-1021G= (n.-1021G=)
11g.119341672C>GCA382971527C1QTNF5,MFRPc.1616G>C (p.Arg539Pro)
c.1262G>C (p.Arg421Pro)
c.487G>C
c.-1021G>C (n.-1021G>C)
11g.119341672C>TCA6320054C1QTNF5,MFRPc.1616G>A (p.Arg539His)
c.1262G>A (p.Arg421His)
c.487G>A
c.-1021G>A (n.-1021G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341673G>ACA6320055C1QTNF5,MFRPc.1615C>T (p.Arg539Cys)
c.1261C>T (p.Arg421Cys)
c.486C>T
c.-1022C>T (n.-1022C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341673G>CCA382971529C1QTNF5,MFRPc.1615C>G (p.Arg539Gly)
c.1261C>G (p.Arg421Gly)
c.486C>G
c.-1022C>G (n.-1022C>G)
11g.119341673G=CA2003917698C1QTNF5,MFRPc.1615C= (p.Arg539=)
c.1261C= (p.Arg421=)
c.486C=
c.-1022C= (n.-1022C=)
11g.119341673G>TCA382971530C1QTNF5,MFRPc.1615C>A (p.Arg539Ser)
c.1261C>A (p.Arg421Ser)
c.486C>A
c.-1022C>A (n.-1022C>A)
11g.119341674G>ACA477155373C1QTNF5,MFRPc.1614C>T (p.Cys538=)
c.1260C>T (p.Cys420=)
c.485C>T
c.-1023C>T (n.-1023C>T)
11g.119341674G>CCA382971531C1QTNF5,MFRPc.1614C>G (p.Cys538Trp)
c.1260C>G (p.Cys420Trp)
c.485C>G
c.-1023C>G (n.-1023C>G)
11g.119341674G=CA2003917704C1QTNF5,MFRPc.1614C= (p.Cys538=)
c.1260C= (p.Cys420=)
c.485C=
c.-1023C= (n.-1023C=)
11g.119341674G>TCA382971532C1QTNF5,MFRPc.1614C>A (p.Cys538Ter)
c.1260C>A (p.Cys420Ter)
c.485C>A
c.-1023C>A (n.-1023C>A)
 dbSNP
11g.119341675C>ACA382971535C1QTNF5,MFRPc.1613G>T (p.Cys538Phe)
c.1259G>T (p.Cys420Phe)
c.484G>T
c.-1024G>T (n.-1024G>T)
11g.119341675C>GCA382971533C1QTNF5,MFRPc.1613G>C (p.Cys538Ser)
c.1259G>C (p.Cys420Ser)
c.484G>C
c.-1024G>C (n.-1024G>C)
11g.119341675C>TCA382971534C1QTNF5,MFRPc.1613G>A (p.Cys538Tyr)
c.1259G>A (p.Cys420Tyr)
c.484G>A
c.-1024G>A (n.-1024G>A)
 gnomAD v4
11g.119341676A>CCA382971536C1QTNF5,MFRPc.1612T>G (p.Cys538Gly)
c.1258T>G (p.Cys420Gly)
c.483T>G
c.-1025T>G (n.-1025T>G)
11g.119341676A>GCA382971537C1QTNF5,MFRPc.1612T>C (p.Cys538Arg)
c.1258T>C (p.Cys420Arg)
c.483T>C
c.-1025T>C (n.-1025T>C)
11g.119341676A>TCA382971538C1QTNF5,MFRPc.1612T>A (p.Cys538Ser)
c.1258T>A (p.Cys420Ser)
c.483T>A
c.-1025T>A (n.-1025T>A)
11g.119341677A=CA2003917708C1QTNF5,MFRPc.1611T= (p.Pro537=)
c.1257T= (p.Pro419=)
c.482T=
c.-1026T= (n.-1026T=)
11g.119341677A>CCA477155378C1QTNF5,MFRPc.1611T>G (p.Pro537=)
c.1257T>G (p.Pro419=)
c.482T>G
c.-1026T>G (n.-1026T>G)
11g.119341677A>GCA477155377C1QTNF5,MFRPc.1611T>C (p.Pro537=)
c.1257T>C (p.Pro419=)
c.482T>C
c.-1026T>C (n.-1026T>C)
11g.119341677A>TCA477155376C1QTNF5,MFRPc.1611T>A (p.Pro537=)
c.1257T>A (p.Pro419=)
c.482T>A
c.-1026T>A (n.-1026T>A)
 ClinVar dbSNP
11g.119341678G>ACA382971539C1QTNF5,MFRPc.1610C>T (p.Pro537Leu)
c.1256C>T (p.Pro419Leu)
c.481C>T
c.-1027C>T (n.-1027C>T)
11g.119341678G>CCA382971540C1QTNF5,MFRPc.1610C>G (p.Pro537Arg)
c.1256C>G (p.Pro419Arg)
c.481C>G
c.-1027C>G (n.-1027C>G)
11g.119341678G>TCA382971541C1QTNF5,MFRPc.1610C>A (p.Pro537His)
c.1256C>A (p.Pro419His)
c.481C>A
c.-1027C>A (n.-1027C>A)
11g.119341682dupCA2793833841C1QTNF5,MFRPc.1610dup (p.Cys538LeufsTer?)
c.1256dup (p.Cys420LeufsTer?)
c.481dup
c.-1027dup (n.-1027dup)
11g.119341679G>ACA6320056C1QTNF5,MFRPc.1609C>T (p.Pro537Ser)
c.1255C>T (p.Pro419Ser)
c.480C>T
c.-1028C>T (n.-1028C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341679G>CCA382971542C1QTNF5,MFRPc.1609C>G (p.Pro537Ala)
c.1255C>G (p.Pro419Ala)
c.480C>G
c.-1028C>G (n.-1028C>G)
11g.119341679G=CA2003917716C1QTNF5,MFRPc.1609C= (p.Pro537=)
c.1255C= (p.Pro419=)
c.480C=
c.-1028C= (n.-1028C=)
11g.119341679G>TCA382971543C1QTNF5,MFRPc.1609C>A (p.Pro537Thr)
c.1255C>A (p.Pro419Thr)
c.480C>A
c.-1028C>A (n.-1028C>A)
11g.119341680G>ACA477155379C1QTNF5,MFRPc.1608C>T (p.Pro536=)
c.1254C>T (p.Pro418=)
c.479C>T
c.-1029C>T (n.-1029C>T)
 gnomAD v4
11g.119341680G>CCA477155380C1QTNF5,MFRPc.1608C>G (p.Pro536=)
c.1254C>G (p.Pro418=)
c.479C>G
c.-1029C>G (n.-1029C>G)
 dbSNP gnomAD v4
11g.119341680G=CA2003917722C1QTNF5,MFRPc.1608C= (p.Pro536=)
c.1254C= (p.Pro418=)
c.479C=
c.-1029C= (n.-1029C=)
11g.119341680G>TCA477155381C1QTNF5,MFRPc.1608C>A (p.Pro536=)
c.1254C>A (p.Pro418=)
c.479C>A
c.-1029C>A (n.-1029C>A)
 COSMIC
11g.119341681G>ACA382971544C1QTNF5,MFRPc.1607C>T (p.Pro536Leu)
c.1253C>T (p.Pro418Leu)
c.478C>T
c.-1030C>T (n.-1030C>T)
11g.119341681G>CCA382971545C1QTNF5,MFRPc.1607C>G (p.Pro536Arg)
c.1253C>G (p.Pro418Arg)
c.478C>G
c.-1030C>G (n.-1030C>G)
11g.119341681G>TCA382971546C1QTNF5,MFRPc.1607C>A (p.Pro536His)
c.1253C>A (p.Pro418His)
c.478C>A
c.-1030C>A (n.-1030C>A)
11g.119341682G>ACA382971547C1QTNF5,MFRPc.1606C>T (p.Pro536Ser)
c.1252C>T (p.Pro418Ser)
c.477C>T
c.-1031C>T (n.-1031C>T)
11g.119341682G>CCA382971549C1QTNF5,MFRPc.1606C>G (p.Pro536Ala)
c.1252C>G (p.Pro418Ala)
c.477C>G
c.-1031C>G (n.-1031C>G)
 gnomAD v4
11g.119341682G=CA2003917728C1QTNF5,MFRPc.1606C= (p.Pro536=)
c.1252C= (p.Pro418=)
c.477C=
c.-1031C= (n.-1031C=)
11g.119341682G>TCA382971548C1QTNF5,MFRPc.1606C>A (p.Pro536Thr)
c.1252C>A (p.Pro418Thr)
c.477C>A
c.-1031C>A (n.-1031C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.119341683C>ACA477155385C1QTNF5,MFRPc.1605G>T (p.Leu535=)
c.1251G>T (p.Leu417=)
c.476G>T
c.-1032G>T (n.-1032G>T)
11g.119341683C>GCA477155386C1QTNF5,MFRPc.1605G>C (p.Leu535=)
c.1251G>C (p.Leu417=)
c.476G>C
c.-1032G>C (n.-1032G>C)
11g.119341683C>TCA477155387C1QTNF5,MFRPc.1605G>A (p.Leu535=)
c.1251G>A (p.Leu417=)
c.476G>A
c.-1032G>A (n.-1032G>A)
 gnomAD v4
11g.119341684A>CCA382971550C1QTNF5,MFRPc.1604T>G (p.Leu535Arg)
c.1250T>G (p.Leu417Arg)
c.475T>G
c.-1033T>G (n.-1033T>G)
11g.119341684A>GCA382971551C1QTNF5,MFRPc.1604T>C (p.Leu535Pro)
c.1250T>C (p.Leu417Pro)
c.475T>C
c.-1033T>C (n.-1033T>C)
 ClinVar dbSNP
11g.119341684A>TCA382971552C1QTNF5,MFRPc.1604T>A (p.Leu535Gln)
c.1250T>A (p.Leu417Gln)
c.475T>A
c.-1033T>A (n.-1033T>A)
11g.119341685G>ACA477155389C1QTNF5,MFRPc.1603C>T (p.Leu535=)
c.1249C>T (p.Leu417=)
c.474C>T
c.-1034C>T (n.-1034C>T)
11g.119341685G>CCA382971553C1QTNF5,MFRPc.1603C>G (p.Leu535Val)
c.1249C>G (p.Leu417Val)
c.474C>G
c.-1034C>G (n.-1034C>G)
11g.119341685G>TCA382971554C1QTNF5,MFRPc.1603C>A (p.Leu535Met)
c.1249C>A (p.Leu417Met)
c.474C>A
c.-1034C>A (n.-1034C>A)
11g.119341686A=CA2003917732C1QTNF5,MFRPc.1602T= (p.Val534=)
c.1248T= (p.Val416=)
c.473T=
c.-1035T= (n.-1035T=)
11g.119341686A>CCA477155392C1QTNF5,MFRPc.1602T>G (p.Val534=)
c.1248T>G (p.Val416=)
c.473T>G
c.-1035T>G (n.-1035T>G)
11g.119341686A>GCA477155391C1QTNF5,MFRPc.1602T>C (p.Val534=)
c.1248T>C (p.Val416=)
c.473T>C
c.-1035T>C (n.-1035T>C)
 gnomAD v4
11g.119341686A>TCA477155390C1QTNF5,MFRPc.1602T>A (p.Val534=)
c.1248T>A (p.Val416=)
c.473T>A
c.-1035T>A (n.-1035T>A)
 dbSNP
11g.119341687A>CCA382971555C1QTNF5,MFRPc.1601T>G (p.Val534Gly)
c.1247T>G (p.Val416Gly)
c.472T>G
c.-1036T>G (n.-1036T>G)
11g.119341687A>GCA382971556C1QTNF5,MFRPc.1601T>C (p.Val534Ala)
c.1247T>C (p.Val416Ala)
c.472T>C
c.-1036T>C (n.-1036T>C)
11g.119341687A>TCA382971557C1QTNF5,MFRPc.1601T>A (p.Val534Asp)
c.1247T>A (p.Val416Asp)
c.472T>A
c.-1036T>A (n.-1036T>A)
11g.119341688C>ACA382971558C1QTNF5,MFRPc.1600G>T (p.Val534Phe)
c.1246G>T (p.Val416Phe)
c.471G>T
c.-1037G>T (n.-1037G>T)
11g.119341688C>GCA382971559C1QTNF5,MFRPc.1600G>C (p.Val534Leu)
c.1246G>C (p.Val416Leu)
c.471G>C
c.-1037G>C (n.-1037G>C)
11g.119341688C>TCA382971560C1QTNF5,MFRPc.1600G>A (p.Val534Ile)
c.1246G>A (p.Val416Ile)
c.471G>A
c.-1037G>A (n.-1037G>A)
11g.119341689A>CCA382971562C1QTNF5,MFRPc.1599T>G (p.Ser533Arg)
c.1245T>G (p.Ser415Arg)
c.470T>G
c.-1038T>G (n.-1038T>G)
11g.119341689A>GCA477155393C1QTNF5,MFRPc.1599T>C (p.Ser533=)
c.1245T>C (p.Ser415=)
c.470T>C
c.-1038T>C (n.-1038T>C)
11g.119341689A>TCA382971564C1QTNF5,MFRPc.1599T>A (p.Ser533Arg)
c.1245T>A (p.Ser415Arg)
c.470T>A
c.-1038T>A (n.-1038T>A)
11g.119341690C>ACA382971566C1QTNF5,MFRPc.1598G>T (p.Ser533Ile)
c.1244G>T (p.Ser415Ile)
c.469G>T
c.-1039G>T (n.-1039G>T)
11g.119341690C=CA2003917734C1QTNF5,MFRPc.1598G= (p.Ser533=)
c.1244G= (p.Ser415=)
c.469G=
c.-1039G= (n.-1039G=)
11g.119341690C>GCA382971568C1QTNF5,MFRPc.1598G>C (p.Ser533Thr)
c.1244G>C (p.Ser415Thr)
c.469G>C
c.-1039G>C (n.-1039G>C)
11g.119341690C>TCA382971567C1QTNF5,MFRPc.1598G>A (p.Ser533Asn)
c.1244G>A (p.Ser415Asn)
c.469G>A
c.-1039G>A (n.-1039G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119341691T>ACA382971570C1QTNF5,MFRPc.1597A>T (p.Ser533Cys)
c.1243A>T (p.Ser415Cys)
c.468A>T
c.-1040A>T (n.-1040A>T)
11g.119341691T>CCA382971571C1QTNF5,MFRPc.1597A>G (p.Ser533Gly)
c.1243A>G (p.Ser415Gly)
c.468A>G
c.-1040A>G (n.-1040A>G)
11g.119341691T>GCA382971573C1QTNF5,MFRPc.1597A>C (p.Ser533Arg)
c.1243A>C (p.Ser415Arg)
c.468A>C
c.-1040A>C (n.-1040A>C)
11g.119341692G>ACA477155394C1QTNF5,MFRPc.1596C>T (p.Gly532=)
c.1242C>T (p.Gly414=)
c.467C>T
c.-1041C>T (n.-1041C>T)
 dbSNP gnomAD v4 COSMIC
11g.119341692G>CCA477155395C1QTNF5,MFRPc.1596C>G (p.Gly532=)
c.1242C>G (p.Gly414=)
c.467C>G
c.-1041C>G (n.-1041C>G)
11g.119341692G=CA2003917737C1QTNF5,MFRPc.1596C= (p.Gly532=)
c.1242C= (p.Gly414=)
c.467C=
c.-1041C= (n.-1041C=)
11g.119341692G>TCA477155396C1QTNF5,MFRPc.1596C>A (p.Gly532=)
c.1242C>A (p.Gly414=)
c.467C>A
c.-1041C>A (n.-1041C>A)
11g.119341693C>ACA382971575C1QTNF5,MFRPc.1595G>T (p.Gly532Val)
c.1241G>T (p.Gly414Val)
c.466G>T
c.-1042G>T (n.-1042G>T)
11g.119341693C=CA2003917739C1QTNF5,MFRPc.1595G= (p.Gly532=)
c.1241G= (p.Gly414=)
c.466G=
c.-1042G= (n.-1042G=)
11g.119341693C>GCA382971577C1QTNF5,MFRPc.1595G>C (p.Gly532Ala)
c.1241G>C (p.Gly414Ala)
c.466G>C
c.-1042G>C (n.-1042G>C)
11g.119341693C>TCA382971579C1QTNF5,MFRPc.1595G>A (p.Gly532Asp)
c.1241G>A (p.Gly414Asp)
c.466G>A
c.-1042G>A (n.-1042G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.119341694C>ACA382971581C1QTNF5,MFRPc.1594G>T (p.Gly532Cys)
c.1240G>T (p.Gly414Cys)
c.465G>T
c.-1043G>T (n.-1043G>T)
11g.119341694C=CA2003917743C1QTNF5,MFRPc.1594G= (p.Gly532=)
c.1240G= (p.Gly414=)
c.465G=
c.-1043G= (n.-1043G=)
11g.119341694C>GCA382971582C1QTNF5,MFRPc.1594G>C (p.Gly532Arg)
c.1240G>C (p.Gly414Arg)
c.465G>C
c.-1043G>C (n.-1043G>C)
 dbSNP
11g.119341694C>TCA6320057C1QTNF5,MFRPc.1594G>A (p.Gly532Ser)
c.1240G>A (p.Gly414Ser)
c.465G>A
c.-1043G>A (n.-1043G>A)
 dbSNP ExAC gnomAD v2
11g.119341695T>ACA477155397C1QTNF5,MFRPc.1593A>T (p.Leu531=)
c.1239A>T (p.Leu413=)
c.464A>T
c.-1044A>T (n.-1044A>T)
11g.119341695T>CCA477155398C1QTNF5,MFRPc.1593A>G (p.Leu531=)
c.1239A>G (p.Leu413=)
c.464A>G
c.-1044A>G (n.-1044A>G)
11g.119341695T>GCA477155399C1QTNF5,MFRPc.1593A>C (p.Leu531=)
c.1239A>C (p.Leu413=)
c.464A>C
c.-1044A>C (n.-1044A>C)
11g.119341696A>CCA382971588C1QTNF5,MFRPc.1592T>G (p.Leu531Arg)
c.1238T>G (p.Leu413Arg)
c.463T>G
c.-1045T>G (n.-1045T>G)
11g.119341696A>GCA382971586C1QTNF5,MFRPc.1592T>C (p.Leu531Pro)
c.1238T>C (p.Leu413Pro)
c.463T>C
c.-1045T>C (n.-1045T>C)
11g.119341696A>TCA382971585C1QTNF5,MFRPc.1592T>A (p.Leu531Gln)
c.1238T>A (p.Leu413Gln)
c.463T>A
c.-1045T>A (n.-1045T>A)
11g.119341697G>ACA477155401C1QTNF5,MFRPc.1591C>T (p.Leu531=)
c.1237C>T (p.Leu413=)
c.462C>T
c.-1046C>T (n.-1046C>T)
11g.119341697G>CCA382971590C1QTNF5,MFRPc.1591C>G (p.Leu531Val)
c.1237C>G (p.Leu413Val)
c.462C>G
c.-1046C>G (n.-1046C>G)
 gnomAD v4
11g.119341697G>TCA382971592C1QTNF5,MFRPc.1591C>A (p.Leu531Ile)
c.1237C>A (p.Leu413Ile)
c.462C>A
c.-1046C>A (n.-1046C>A)
11g.119341698T>ACA477155404C1QTNF5,MFRPc.1590A>T (p.Pro530=)
c.1236A>T (p.Pro412=)
c.461A>T
c.-1047A>T (n.-1047A>T)
11g.119341698T>CCA477155402C1QTNF5,MFRPc.1590A>G (p.Pro530=)
c.1236A>G (p.Pro412=)
c.461A>G
c.-1047A>G (n.-1047A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.119341698T>GCA477155403C1QTNF5,MFRPc.1590A>C (p.Pro530=)
c.1236A>C (p.Pro412=)
c.461A>C
c.-1047A>C (n.-1047A>C)
11g.119341698T=CA2003917746C1QTNF5,MFRPc.1590A= (p.Pro530=)
c.1236A= (p.Pro412=)
c.461A=
c.-1047A= (n.-1047A=)
11g.119341699G>ACA382971593C1QTNF5,MFRPc.1589C>T (p.Pro530Leu)
c.1235C>T (p.Pro412Leu)
c.460C>T
c.-1048C>T (n.-1048C>T)
 dbSNP gnomAD v4
11g.119341699G>CCA382971595C1QTNF5,MFRPc.1589C>G (p.Pro530Arg)
c.1235C>G (p.Pro412Arg)
c.460C>G
c.-1048C>G (n.-1048C>G)
11g.119341699G=CA2003917750C1QTNF5,MFRPc.1589C= (p.Pro530=)
c.1235C= (p.Pro412=)
c.460C=
c.-1048C= (n.-1048C=)
11g.119341699G>TCA382971596C1QTNF5,MFRPc.1589C>A (p.Pro530Gln)
c.1235C>A (p.Pro412Gln)
c.460C>A
c.-1048C>A (n.-1048C>A)
11g.119341700G>ACA382971598C1QTNF5,MFRPc.1588C>T (p.Pro530Ser)
c.1234C>T (p.Pro412Ser)
c.459C>T
c.-1049C>T (n.-1049C>T)
 gnomAD v4 COSMIC
11g.119341700G>CCA382971599C1QTNF5,MFRPc.1588C>G (p.Pro530Ala)
c.1234C>G (p.Pro412Ala)
c.459C>G
c.-1049C>G (n.-1049C>G)
11g.119341700G>TCA382971600C1QTNF5,MFRPc.1588C>A (p.Pro530Thr)
c.1234C>A (p.Pro412Thr)
c.459C>A
c.-1049C>A (n.-1049C>A)
11g.119341701G>ACA477155405C1QTNF5,MFRPc.1587C>T (p.Thr529=)
c.1233C>T (p.Thr411=)
c.458C>T
c.-1050C>T (n.-1050C>T)
11g.119341701G>CCA477155406C1QTNF5,MFRPc.1587C>G (p.Thr529=)
c.1233C>G (p.Thr411=)
c.458C>G
c.-1050C>G (n.-1050C>G)
11g.119341701G>TCA477155407C1QTNF5,MFRPc.1587C>A (p.Thr529=)
c.1233C>A (p.Thr411=)
c.458C>A
c.-1050C>A (n.-1050C>A)
 gnomAD v4
11g.119341702G>ACA382971602C1QTNF5,MFRPc.1586C>T (p.Thr529Ile)
c.1232C>T (p.Thr411Ile)
c.457C>T
c.-1051C>T (n.-1051C>T)
11g.119341702G>CCA382971604C1QTNF5,MFRPc.1586C>G (p.Thr529Ser)
c.1232C>G (p.Thr411Ser)
c.457C>G
c.-1051C>G (n.-1051C>G)
11g.119341702G>TCA382971605C1QTNF5,MFRPc.1586C>A (p.Thr529Asn)
c.1232C>A (p.Thr411Asn)
c.457C>A
c.-1051C>A (n.-1051C>A)
 gnomAD v4
11g.119341703T>ACA382971607C1QTNF5,MFRPc.1585A>T (p.Thr529Ser)
c.1231A>T (p.Thr411Ser)
c.456A>T
c.-1052A>T (n.-1052A>T)
11g.119341703T>CCA382971609C1QTNF5,MFRPc.1585A>G (p.Thr529Ala)
c.1231A>G (p.Thr411Ala)
c.456A>G
c.-1052A>G (n.-1052A>G)
11g.119341703T>GCA382971611C1QTNF5,MFRPc.1585A>C (p.Thr529Pro)
c.1231A>C (p.Thr411Pro)
c.456A>C
c.-1052A>C (n.-1052A>C)
 gnomAD v4
11g.119341704G>ACA477155408C1QTNF5,MFRPc.1584C>T (p.Cys528=)
c.1230C>T (p.Cys410=)
c.455C>T
c.-1053C>T (n.-1053C>T)
11g.119341704G>CCA382971613C1QTNF5,MFRPc.1584C>G (p.Cys528Trp)
c.1230C>G (p.Cys410Trp)
c.455C>G
c.-1053C>G (n.-1053C>G)
11g.119341704G>TCA382971612C1QTNF5,MFRPc.1584C>A (p.Cys528Ter)
c.1230C>A (p.Cys410Ter)
c.455C>A
c.-1053C>A (n.-1053C>A)
11g.119341705C>ACA382971616C1QTNF5,MFRPc.1583G>T (p.Cys528Phe)
c.1229G>T (p.Cys410Phe)
c.454G>T
c.-1054G>T (n.-1054G>T)
11g.119341705C>GCA382971618C1QTNF5,MFRPc.1583G>C (p.Cys528Ser)
c.1229G>C (p.Cys410Ser)
c.454G>C
c.-1054G>C (n.-1054G>C)
11g.119341705C>TCA382971619C1QTNF5,MFRPc.1583G>A (p.Cys528Tyr)
c.1229G>A (p.Cys410Tyr)
c.454G>A
c.-1054G>A (n.-1054G>A)
11g.119341706A=CA2003917752C1QTNF5,MFRPc.1582T= (p.Cys528=)
c.1228T= (p.Cys410=)
c.453T=
c.-1055T= (n.-1055T=)
11g.119341706A>CCA382971622C1QTNF5,MFRPc.1582T>G (p.Cys528Gly)
c.1228T>G (p.Cys410Gly)
c.453T>G
c.-1055T>G (n.-1055T>G)
11g.119341706A>GCA382971623C1QTNF5,MFRPc.1582T>C (p.Cys528Arg)
c.1228T>C (p.Cys410Arg)
c.453T>C
c.-1055T>C (n.-1055T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.119341706A>TCA382971624C1QTNF5,MFRPc.1582T>A (p.Cys528Ser)
c.1228T>A (p.Cys410Ser)
c.453T>A
c.-1055T>A (n.-1055T>A)
11g.119341707A=CA2003917754C1QTNF5,MFRPc.1581T= (p.Arg527=)
c.1227T= (p.Arg409=)
c.452T=
c.-1056T= (n.-1056T=)
11g.119341707A>CCA477155409C1QTNF5,MFRPc.1581T>G (p.Arg527=)
c.1227T>G (p.Arg409=)
c.452T>G
c.-1056T>G (n.-1056T>G)
11g.119341707A>GCA477155410C1QTNF5,MFRPc.1581T>C (p.Arg527=)
c.1227T>C (p.Arg409=)
c.452T>C
c.-1056T>C (n.-1056T>C)
11g.119341707A>TCA477155411C1QTNF5,MFRPc.1581T>A (p.Arg527=)
c.1227T>A (p.Arg409=)
c.452T>A
c.-1056T>A (n.-1056T>A)
 dbSNP gnomAD v4
11g.119341708C>ACA382971626C1QTNF5,MFRPc.1580G>T (p.Arg527Leu)
c.1226G>T (p.Arg409Leu)
c.451G>T
c.-1057G>T (n.-1057G>T)
11g.119341708C=CA2003917759C1QTNF5,MFRPc.1580G= (p.Arg527=)
c.1226G= (p.Arg409=)
c.451G=
c.-1057G= (n.-1057G=)
11g.119341708C>GCA382971628C1QTNF5,MFRPc.1580G>C (p.Arg527Pro)
c.1226G>C (p.Arg409Pro)
c.451G>C
c.-1057G>C (n.-1057G>C)
11g.119341708C>TCA6320058C1QTNF5,MFRPc.1580G>A (p.Arg527His)
c.1226G>A (p.Arg409His)
c.451G>A
c.-1057G>A (n.-1057G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341709G>ACA6320059C1QTNF5,MFRPc.1579C>T (p.Arg527Cys)
c.1225C>T (p.Arg409Cys)
c.450C>T
c.-1058C>T (n.-1058C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341709G>CCA382971630C1QTNF5,MFRPc.1579C>G (p.Arg527Gly)
c.1225C>G (p.Arg409Gly)
c.450C>G
c.-1058C>G (n.-1058C>G)
 dbSNP gnomAD v3 gnomAD v4
11g.119341709G=CA2003917764C1QTNF5,MFRPc.1579C= (p.Arg527=)
c.1225C= (p.Arg409=)
c.450C=
c.-1058C= (n.-1058C=)
11g.119341709G>TCA382971631C1QTNF5,MFRPc.1579C>A (p.Arg527Ser)
c.1225C>A (p.Arg409Ser)
c.450C>A
c.-1058C>A (n.-1058C>A)
11g.119341710G>ACA229675168C1QTNF5,MFRPc.1578C>T (p.Pro526=)
c.1224C>T (p.Pro408=)
c.449C>T
c.-1059C>T (n.-1059C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119341710G>CCA477155412C1QTNF5,MFRPc.1578C>G (p.Pro526=)
c.1224C>G (p.Pro408=)
c.449C>G
c.-1059C>G (n.-1059C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119341710G=CA2003917768C1QTNF5,MFRPc.1578C= (p.Pro526=)
c.1224C= (p.Pro408=)
c.449C=
c.-1059C= (n.-1059C=)
11g.119341710G>TCA229675170C1QTNF5,MFRPc.1578C>A (p.Pro526=)
c.1224C>A (p.Pro408=)
c.449C>A
c.-1059C>A (n.-1059C>A)
 dbSNP
11g.119341711G>ACA382971637C1QTNF5,MFRPc.1577C>T (p.Pro526Leu)
c.1223C>T (p.Pro408Leu)
c.448C>T
c.-1060C>T (n.-1060C>T)
11g.119341711G>CCA382971635C1QTNF5,MFRPc.1577C>G (p.Pro526Arg)
c.1223C>G (p.Pro408Arg)
c.448C>G
c.-1060C>G (n.-1060C>G)
11g.119341711G>TCA382971633C1QTNF5,MFRPc.1577C>A (p.Pro526His)
c.1223C>A (p.Pro408His)
c.448C>A
c.-1060C>A (n.-1060C>A)
11g.119341712G>ACA382971641C1QTNF5,MFRPc.1576C>T (p.Pro526Ser)
c.1222C>T (p.Pro408Ser)
c.447C>T
c.-1061C>T (n.-1061C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.119341712G>CCA382971642C1QTNF5,MFRPc.1576C>G (p.Pro526Ala)
c.1222C>G (p.Pro408Ala)
c.447C>G
c.-1061C>G (n.-1061C>G)
11g.119341712G=CA2003917775C1QTNF5,MFRPc.1576C= (p.Pro526=)
c.1222C= (p.Pro408=)
c.447C=
c.-1061C= (n.-1061C=)
11g.119341712G>TCA382971644C1QTNF5,MFRPc.1576C>A (p.Pro526Thr)
c.1222C>A (p.Pro408Thr)
c.447C>A
c.-1061C>A (n.-1061C>A)
11g.119341713C>ACA477155413C1QTNF5,MFRPc.1575G>T (p.Val525=)
c.1221G>T (p.Val407=)
c.446G>T
c.-1062G>T (n.-1062G>T)
 gnomAD v4
11g.119341713C>GCA477155414C1QTNF5,MFRPc.1575G>C (p.Val525=)
c.1221G>C (p.Val407=)
c.446G>C
c.-1062G>C (n.-1062G>C)
11g.119341713C>TCA477155415C1QTNF5,MFRPc.1575G>A (p.Val525=)
c.1221G>A (p.Val407=)
c.446G>A
c.-1062G>A (n.-1062G>A)
11g.119341714delCA2616404559C1QTNF5,MFRPc.1574del (p.Val525GlyfsTer7)
c.1220del (p.Val407GlyfsTer7)
c.445del
c.-1063del (n.-1063del)
 gnomAD v4
11g.119341714A>CCA382971646C1QTNF5,MFRPc.1574T>G (p.Val525Gly)
c.1220T>G (p.Val407Gly)
c.445T>G
c.-1063T>G (n.-1063T>G)
11g.119341714A>GCA382971648C1QTNF5,MFRPc.1574T>C (p.Val525Ala)
c.1220T>C (p.Val407Ala)
c.445T>C
c.-1063T>C (n.-1063T>C)
11g.119341714A>TCA382971649C1QTNF5,MFRPc.1574T>A (p.Val525Glu)
c.1220T>A (p.Val407Glu)
c.445T>A
c.-1063T>A (n.-1063T>A)
11g.119341715C>ACA382971651C1QTNF5,MFRPc.1573G>T (p.Val525Leu)
c.1219G>T (p.Val407Leu)
c.444G>T
c.-1064G>T (n.-1064G>T)
11g.119341715C>GCA382971652C1QTNF5,MFRPc.1573G>C (p.Val525Leu)
c.1219G>C (p.Val407Leu)
c.444G>C
c.-1064G>C (n.-1064G>C)
11g.119341715C>TCA382971653C1QTNF5,MFRPc.1573G>A (p.Val525Met)
c.1219G>A (p.Val407Met)
c.444G>A
c.-1064G>A (n.-1064G>A)
11g.119341716A>CCA477155416C1QTNF5,MFRPc.1572T>G (p.Leu524=)
c.1218T>G (p.Leu406=)
c.443T>G
c.-1065T>G (n.-1065T>G)
11g.119341716A>GCA477155417C1QTNF5,MFRPc.1572T>C (p.Leu524=)
c.1218T>C (p.Leu406=)
c.443T>C
c.-1065T>C (n.-1065T>C)
11g.119341716A>TCA477155418C1QTNF5,MFRPc.1572T>A (p.Leu524=)
c.1218T>A (p.Leu406=)
c.443T>A
c.-1065T>A (n.-1065T>A)
11g.119341717A>CCA382971654C1QTNF5,MFRPc.1571T>G (p.Leu524Arg)
c.1217T>G (p.Leu406Arg)
c.442T>G
c.-1066T>G (n.-1066T>G)
11g.119341717A>GCA382971655C1QTNF5,MFRPc.1571T>C (p.Leu524Pro)
c.1217T>C (p.Leu406Pro)
c.442T>C
c.-1066T>C (n.-1066T>C)
11g.119341717A>TCA382971656C1QTNF5,MFRPc.1571T>A (p.Leu524His)
c.1217T>A (p.Leu406His)
c.442T>A
c.-1066T>A (n.-1066T>A)
11g.119341718G>ACA382971660C1QTNF5,MFRPc.1570C>T (p.Leu524Phe)
c.1216C>T (p.Leu406Phe)
c.441C>T
c.-1067C>T (n.-1067C>T)
11g.119341718G>CCA6320060C1QTNF5,MFRPc.1570C>G (p.Leu524Val)
c.1216C>G (p.Leu406Val)
c.441C>G
c.-1067C>G (n.-1067C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341718G=CA2003917779C1QTNF5,MFRPc.1570C= (p.Leu524=)
c.1216C= (p.Leu406=)
c.441C=
c.-1067C= (n.-1067C=)
11g.119341718G>TCA382971657C1QTNF5,MFRPc.1570C>A (p.Leu524Ile)
c.1216C>A (p.Leu406Ile)
c.441C>A
c.-1067C>A (n.-1067C>A)
11g.119341719C>ACA477155421C1QTNF5,MFRPc.1569G>T (p.Leu523=)
c.1215G>T (p.Leu405=)
c.440G>T
c.-1068G>T (n.-1068G>T)
11g.119341719C>GCA477155419C1QTNF5,MFRPc.1569G>C (p.Leu523=)
c.1215G>C (p.Leu405=)
c.440G>C
c.-1068G>C (n.-1068G>C)
 gnomAD v4
11g.119341719C>TCA477155420C1QTNF5,MFRPc.1569G>A (p.Leu523=)
c.1215G>A (p.Leu405=)
c.440G>A
c.-1068G>A (n.-1068G>A)
11g.119341720A>CCA382971661C1QTNF5,MFRPc.1568T>G (p.Leu523Arg)
c.1214T>G (p.Leu405Arg)
c.439T>G
c.-1069T>G (n.-1069T>G)
 COSMIC
11g.119341720A>GCA382971663C1QTNF5,MFRPc.1568T>C (p.Leu523Pro)
c.1214T>C (p.Leu405Pro)
c.439T>C
c.-1069T>C (n.-1069T>C)
11g.119341720A>TCA382971664C1QTNF5,MFRPc.1568T>A (p.Leu523Gln)
c.1214T>A (p.Leu405Gln)
c.439T>A
c.-1069T>A (n.-1069T>A)
11g.119341721G>ACA477155422C1QTNF5,MFRPc.1567C>T (p.Leu523=)
c.1213C>T (p.Leu405=)
c.438C>T
c.-1070C>T (n.-1070C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.119341721G>CCA382971665C1QTNF5,MFRPc.1567C>G (p.Leu523Val)
c.1213C>G (p.Leu405Val)
c.438C>G
c.-1070C>G (n.-1070C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119341721G=CA2003917784C1QTNF5,MFRPc.1567C= (p.Leu523=)
c.1213C= (p.Leu405=)
c.438C=
c.-1070C= (n.-1070C=)
11g.119341721G>TCA382971667C1QTNF5,MFRPc.1567C>A (p.Leu523Met)
c.1213C>A (p.Leu405Met)
c.438C>A
c.-1070C>A (n.-1070C>A)
11g.119341722C>ACA477155423C1QTNF5,MFRPc.1566G>T (p.Gly522=)
c.1212G>T (p.Gly404=)
c.437G>T
c.-1071G>T (n.-1071G>T)
11g.119341722C>GCA477155424C1QTNF5,MFRPc.1566G>C (p.Gly522=)
c.1212G>C (p.Gly404=)
c.437G>C
c.-1071G>C (n.-1071G>C)
11g.119341722C>TCA477155425C1QTNF5,MFRPc.1566G>A (p.Gly522=)
c.1212G>A (p.Gly404=)
c.437G>A
c.-1071G>A (n.-1071G>A)
 gnomAD v4
11g.119341723C>ACA382971669C1QTNF5,MFRPc.1565G>T (p.Gly522Val)
c.1211G>T (p.Gly404Val)
c.436G>T
c.-1072G>T (n.-1072G>T)
11g.119341723C=CA2003917787C1QTNF5,MFRPc.1565G= (p.Gly522=)
c.1211G= (p.Gly404=)
c.436G=
c.-1072G= (n.-1072G=)
11g.119341723C>GCA382971671C1QTNF5,MFRPc.1565G>C (p.Gly522Ala)
c.1211G>C (p.Gly404Ala)
c.436G>C
c.-1072G>C (n.-1072G>C)
 gnomAD v4
11g.119341723C>TCA6320061C1QTNF5,MFRPc.1565G>A (p.Gly522Glu)
c.1211G>A (p.Gly404Glu)
c.436G>A
c.-1072G>A (n.-1072G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341724C>ACA382971673C1QTNF5,MFRPc.1564G>T (p.Gly522Trp)
c.1210G>T (p.Gly404Trp)
c.435G>T
c.-1073G>T (n.-1073G>T)
11g.119341724C=CA2003917788C1QTNF5,MFRPc.1564G= (p.Gly522=)
c.1210G= (p.Gly404=)
c.435G=
c.-1073G= (n.-1073G=)
11g.119341724C>GCA382971675C1QTNF5,MFRPc.1564G>C (p.Gly522Arg)
c.1210G>C (p.Gly404Arg)
c.435G>C
c.-1073G>C (n.-1073G>C)
11g.119341724C>TCA382971676C1QTNF5,MFRPc.1564G>A (p.Gly522Arg)
c.1210G>A (p.Gly404Arg)
c.435G>A
c.-1073G>A (n.-1073G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.119341725A>CCA382971678C1QTNF5,MFRPc.1563T>G (p.Cys521Trp)
c.1209T>G (p.Cys403Trp)
c.434T>G
c.-1074T>G (n.-1074T>G)
11g.119341725A>GCA477155426C1QTNF5,MFRPc.1563T>C (p.Cys521=)
c.1209T>C (p.Cys403=)
c.434T>C
c.-1074T>C (n.-1074T>C)
11g.119341725A>TCA382971680C1QTNF5,MFRPc.1563T>A (p.Cys521Ter)
c.1209T>A (p.Cys403Ter)
c.434T>A
c.-1074T>A (n.-1074T>A)
11g.119341726C>ACA382971683C1QTNF5,MFRPc.1562G>T (p.Cys521Phe)
c.1208G>T (p.Cys403Phe)
c.433G>T
c.-1075G>T (n.-1075G>T)
11g.119341726C=CA2003917790C1QTNF5,MFRPc.1562G= (p.Cys521=)
c.1208G= (p.Cys403=)
c.433G=
c.-1075G= (n.-1075G=)
11g.119341726C>GCA382971685C1QTNF5,MFRPc.1562G>C (p.Cys521Ser)
c.1208G>C (p.Cys403Ser)
c.433G>C
c.-1075G>C (n.-1075G>C)
11g.119341726C>TCA382971682C1QTNF5,MFRPc.1562G>A (p.Cys521Tyr)
c.1208G>A (p.Cys403Tyr)
c.433G>A
c.-1075G>A (n.-1075G>A)
 dbSNP gnomAD v4
11g.119341727A>CCA382971688C1QTNF5,MFRPc.1561T>G (p.Cys521Gly)
c.1207T>G (p.Cys403Gly)
c.432T>G
c.-1076T>G (n.-1076T>G)
11g.119341727A>GCA382971687C1QTNF5,MFRPc.1561T>C (p.Cys521Arg)
c.1207T>C (p.Cys403Arg)
c.432T>C
c.-1076T>C (n.-1076T>C)
11g.119341727A>TCA382971690C1QTNF5,MFRPc.1561T>A (p.Cys521Ser)
c.1207T>A (p.Cys403Ser)
c.432T>A
c.-1076T>A (n.-1076T>A)
11g.119341728C>ACA477155427C1QTNF5,MFRPc.1560G>T (p.Leu520=)
c.1206G>T (p.Leu402=)
c.431G>T
c.-1077G>T (n.-1077G>T)
11g.119341728C=CA2003917794C1QTNF5,MFRPc.1560G= (p.Leu520=)
c.1206G= (p.Leu402=)
c.431G=
c.-1077G= (n.-1077G=)
11g.119341728C>GCA10630089C1QTNF5,MFRPc.1560G>C (p.Leu520=)
c.1206G>C (p.Leu402=)
c.431G>C
c.-1077G>C (n.-1077G>C)
 ClinVar dbSNP
11g.119341728C>TCA477155429C1QTNF5,MFRPc.1560G>A (p.Leu520=)
c.1206G>A (p.Leu402=)
c.431G>A
c.-1077G>A (n.-1077G>A)
11g.119341729A>CCA382971695C1QTNF5,MFRPc.1559T>G (p.Leu520Arg)
c.1205T>G (p.Leu402Arg)
c.430T>G
c.-1078T>G (n.-1078T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.119341729A>GCA382971693C1QTNF5,MFRPc.1559T>C (p.Leu520Pro)
c.1205T>C (p.Leu402Pro)
c.430T>C
c.-1078T>C (n.-1078T>C)
11g.119341729A>TCA382971694C1QTNF5,MFRPc.1559T>A (p.Leu520Gln)
c.1205T>A (p.Leu402Gln)
c.430T>A
c.-1078T>A (n.-1078T>A)
11g.119341730G>ACA477155430C1QTNF5,MFRPc.1558C>T (p.Leu520=)
c.1204C>T (p.Leu402=)
c.429C>T
c.-1079C>T (n.-1079C>T)
11g.119341730G>CCA382971697C1QTNF5,MFRPc.1558C>G (p.Leu520Val)
c.1204C>G (p.Leu402Val)
c.429C>G
c.-1079C>G (n.-1079C>G)
11g.119341730G>TCA382971699C1QTNF5,MFRPc.1558C>A (p.Leu520Met)
c.1204C>A (p.Leu402Met)
c.429C>A
c.-1079C>A (n.-1079C>A)
11g.119341731G>ACA477155433C1QTNF5,MFRPc.1557C>T (p.Leu519=)
c.1203C>T (p.Leu401=)
c.428C>T
c.-1080C>T (n.-1080C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.119341731G>CCA477155432C1QTNF5,MFRPc.1557C>G (p.Leu519=)
c.1203C>G (p.Leu401=)
c.428C>G
c.-1080C>G (n.-1080C>G)
11g.119341731G=CA2003917798C1QTNF5,MFRPc.1557C= (p.Leu519=)
c.1203C= (p.Leu401=)
c.428C=
c.-1080C= (n.-1080C=)
11g.119341731G>TCA477155431C1QTNF5,MFRPc.1557C>A (p.Leu519=)
c.1203C>A (p.Leu401=)
c.428C>A
c.-1080C>A (n.-1080C>A)
11g.119341732A>CCA382971700C1QTNF5,MFRPc.1556T>G (p.Leu519Arg)
c.1202T>G (p.Leu401Arg)
c.427T>G
c.-1081T>G (n.-1081T>G)
11g.119341732A>GCA382971702C1QTNF5,MFRPc.1556T>C (p.Leu519Pro)
c.1202T>C (p.Leu401Pro)
c.427T>C
c.-1081T>C (n.-1081T>C)
11g.119341732A>TCA382971705C1QTNF5,MFRPc.1556T>A (p.Leu519His)
c.1202T>A (p.Leu401His)
c.427T>A
c.-1081T>A (n.-1081T>A)
11g.119341733G>ACA382971712C1QTNF5,MFRPc.1555C>T (p.Leu519Phe)
c.1201C>T (p.Leu401Phe)
c.426C>T
c.-1082C>T (n.-1082C>T)
11g.119341733G>CCA382971714C1QTNF5,MFRPc.1555C>G (p.Leu519Val)
c.1201C>G (p.Leu401Val)
c.426C>G
c.-1082C>G (n.-1082C>G)
11g.119341733G>TCA382971715C1QTNF5,MFRPc.1555C>A (p.Leu519Ile)
c.1201C>A (p.Leu401Ile)
c.426C>A
c.-1082C>A (n.-1082C>A)
11g.119341733_119341734delinsGCCA2003917801C1QTNF5,MFRPc.1554_1555delinsGC (p.Arg518=)
c.1200_1201delinsGC (p.Arg400=)
c.425_426delinsGC
c.-1083_-1082delinsGC (n.-1083_-1082delinsGC)
11g.119341734C>ACA382971717C1QTNF5,MFRPc.1554G>T (p.Arg518Ser)
c.1200G>T (p.Arg400Ser)
c.425G>T
c.-1083G>T (n.-1083G>T)
11g.119341734C>GCA382971718C1QTNF5,MFRPc.1554G>C (p.Arg518Ser)
c.1200G>C (p.Arg400Ser)
c.425G>C
c.-1083G>C (n.-1083G>C)
11g.119341734C>TCA477155434C1QTNF5,MFRPc.1554G>A (p.Arg518=)
c.1200G>A (p.Arg400=)
c.425G>A
c.-1083G>A (n.-1083G>A)
11g.119341735delCA672443439C1QTNF5,MFRPc.1554del (p.Arg518SerfsTer14)
c.1200del (p.Arg400SerfsTer14)
c.425del
c.-1083del (n.-1083del)
 dbSNP
11g.119341735C>ACA382971722C1QTNF5,MFRPc.1553G>T (p.Arg518Met)
c.1199G>T (p.Arg400Met)
c.424G>T
c.-1084G>T (n.-1084G>T)
11g.119341735C=CA2003917809C1QTNF5,MFRPc.1553G= (p.Arg518=)
c.1199G= (p.Arg400=)
c.424G=
c.-1084G= (n.-1084G=)
11g.119341735C>GCA382971720C1QTNF5,MFRPc.1553G>C (p.Arg518Thr)
c.1199G>C (p.Arg400Thr)
c.424G>C
c.-1084G>C (n.-1084G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.119341735C>TCA229675176C1QTNF5,MFRPc.1553G>A (p.Arg518Lys)
c.1199G>A (p.Arg400Lys)
c.424G>A
c.-1084G>A (n.-1084G>A)
 ClinVar dbSNP gnomAD v4
11g.119341736T>ACA382971723C1QTNF5,MFRPc.1552A>T (p.Arg518Trp)
c.1198A>T (p.Arg400Trp)
c.423A>T
c.-1085A>T (n.-1085A>T)
11g.119341736T>CCA382971725C1QTNF5,MFRPc.1552A>G (p.Arg518Gly)
c.1198A>G (p.Arg400Gly)
c.423A>G
c.-1085A>G (n.-1085A>G)
11g.119341736T>GCA477155435C1QTNF5,MFRPc.1552A>C (p.Arg518=)
c.1198A>C (p.Arg400=)
c.423A>C
c.-1085A>C (n.-1085A>C)
 gnomAD v4
11g.119341737C>ACA477155436C1QTNF5,MFRPc.1551G>T (p.Arg517=)
c.1197G>T (p.Arg399=)
c.422G>T
c.-1086G>T (n.-1086G>T)
11g.119341737C=CA2003917815C1QTNF5,MFRPc.1551G= (p.Arg517=)
c.1197G= (p.Arg399=)
c.422G=
c.-1086G= (n.-1086G=)
11g.119341737C>GCA477155437C1QTNF5,MFRPc.1551G>C (p.Arg517=)
c.1197G>C (p.Arg399=)
c.422G>C
c.-1086G>C (n.-1086G>C)
11g.119341737C>TCA477155438C1QTNF5,MFRPc.1551G>A (p.Arg517=)
c.1197G>A (p.Arg399=)
c.422G>A
c.-1086G>A (n.-1086G>A)
 dbSNP gnomAD v4
11g.119341738C>ACA382971726C1QTNF5,MFRPc.1550G>T (p.Arg517Leu)
c.1196G>T (p.Arg399Leu)
c.421G>T
c.-1087G>T (n.-1087G>T)
11g.119341738C=CA2003917822C1QTNF5,MFRPc.1550G= (p.Arg517=)
c.1196G= (p.Arg399=)
c.421G=
c.-1087G= (n.-1087G=)
11g.119341738C>GCA382971727C1QTNF5,MFRPc.1550G>C (p.Arg517Pro)
c.1196G>C (p.Arg399Pro)
c.421G>C
c.-1087G>C (n.-1087G>C)
11g.119341738C>TCA6320062C1QTNF5,MFRPc.1550G>A (p.Arg517Gln)
c.1196G>A (p.Arg399Gln)
c.421G>A
c.-1087G>A (n.-1087G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341739G>ACA017120C1QTNF5,MFRPc.1549C>T (p.Arg517Trp)
c.1195C>T (p.Arg399Trp)
c.420C>T
c.-1088C>T (n.-1088C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341739G>CCA382971730C1QTNF5,MFRPc.1549C>G (p.Arg517Gly)
c.1195C>G (p.Arg399Gly)
c.420C>G
c.-1088C>G (n.-1088C>G)
11g.119341739G=CA2003917826C1QTNF5,MFRPc.1549C= (p.Arg517=)
c.1195C= (p.Arg399=)
c.420C=
c.-1088C= (n.-1088C=)
11g.119341739G>TCA477155439C1QTNF5,MFRPc.1549C>A (p.Arg517=)
c.1195C>A (p.Arg399=)
c.420C>A
c.-1088C>A (n.-1088C>A)
11g.119341740G>ACA477155441C1QTNF5,MFRPc.1548C>T (p.Phe516=)
c.1194C>T (p.Phe398=)
c.419C>T
c.-1089C>T (n.-1089C>T)
11g.119341740G>CCA382971731C1QTNF5,MFRPc.1548C>G (p.Phe516Leu)
c.1194C>G (p.Phe398Leu)
c.419C>G
c.-1089C>G (n.-1089C>G)
11g.119341740G>TCA382971732C1QTNF5,MFRPc.1548C>A (p.Phe516Leu)
c.1194C>A (p.Phe398Leu)
c.419C>A
c.-1089C>A (n.-1089C>A)
11g.119341741A>CCA382971733C1QTNF5,MFRPc.1547T>G (p.Phe516Cys)
c.1193T>G (p.Phe398Cys)
c.418T>G
c.-1090T>G (n.-1090T>G)
11g.119341741A>GCA382971734C1QTNF5,MFRPc.1547T>C (p.Phe516Ser)
c.1193T>C (p.Phe398Ser)
c.418T>C
c.-1090T>C (n.-1090T>C)
11g.119341741A>TCA382971736C1QTNF5,MFRPc.1547T>A (p.Phe516Tyr)
c.1193T>A (p.Phe398Tyr)
c.418T>A
c.-1090T>A (n.-1090T>A)
11g.119341742A>CCA382971739C1QTNF5,MFRPc.1546T>G (p.Phe516Val)
c.1192T>G (p.Phe398Val)
c.417T>G
c.-1091T>G (n.-1091T>G)
11g.119341742A>GCA382971738C1QTNF5,MFRPc.1546T>C (p.Phe516Leu)
c.1192T>C (p.Phe398Leu)
c.417T>C
c.-1091T>C (n.-1091T>C)
11g.119341742A>TCA382971737C1QTNF5,MFRPc.1546T>A (p.Phe516Ile)
c.1192T>A (p.Phe398Ile)
c.417T>A
c.-1091T>A (n.-1091T>A)
11g.119341743A>CCA382971742C1QTNF5,MFRPc.1545T>G (p.His515Gln)
c.1191T>G (p.His397Gln)
c.416T>G
c.-1092T>G (n.-1092T>G)
11g.119341743A>GCA477155442C1QTNF5,MFRPc.1545T>C (p.His515=)
c.1191T>C (p.His397=)
c.416T>C
c.-1092T>C (n.-1092T>C)
11g.119341743A>TCA382971740C1QTNF5,MFRPc.1545T>A (p.His515Gln)
c.1191T>A (p.His397Gln)
c.416T>A
c.-1092T>A (n.-1092T>A)
11g.119341744T>ACA382971744C1QTNF5,MFRPc.1544A>T (p.His515Leu)
c.1190A>T (p.His397Leu)
c.415A>T
c.-1093A>T (n.-1093A>T)
11g.119341744T>CCA382971747C1QTNF5,MFRPc.1544A>G (p.His515Arg)
c.1190A>G (p.His397Arg)
c.415A>G
c.-1093A>G (n.-1093A>G)
11g.119341744T>GCA382971749C1QTNF5,MFRPc.1544A>C (p.His515Pro)
c.1190A>C (p.His397Pro)
c.415A>C
c.-1093A>C (n.-1093A>C)
11g.119341745G>ACA382971752C1QTNF5,MFRPc.1543C>T (p.His515Tyr)
c.1189C>T (p.His397Tyr)
c.414C>T
c.-1094C>T (n.-1094C>T)
11g.119341745G>CCA382971754C1QTNF5,MFRPc.1543C>G (p.His515Asp)
c.1189C>G (p.His397Asp)
c.414C>G
c.-1094C>G (n.-1094C>G)
11g.119341745G>TCA382971755C1QTNF5,MFRPc.1543C>A (p.His515Asn)
c.1189C>A (p.His397Asn)
c.414C>A
c.-1094C>A (n.-1094C>A)
 gnomAD v4
11g.119341746C>ACA382971756C1QTNF5,MFRPc.1542G>T (p.Gln514His)
c.1188G>T (p.Gln396His)
c.413G>T
c.-1095G>T (n.-1095G>T)
11g.119341746C=CA2003917838C1QTNF5,MFRPc.1542G= (p.Gln514=)
c.1188G= (p.Gln396=)
c.413G=
c.-1095G= (n.-1095G=)
11g.119341746C>GCA6320063C1QTNF5,MFRPc.1542G>C (p.Gln514His)
c.1188G>C (p.Gln396His)
c.413G>C
c.-1095G>C (n.-1095G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341746C>TCA477155443C1QTNF5,MFRPc.1542G>A (p.Gln514=)
c.1188G>A (p.Gln396=)
c.413G>A
c.-1095G>A (n.-1095G>A)
11g.119341747T>ACA382971759C1QTNF5,MFRPc.1541A>T (p.Gln514Leu)
c.1187A>T (p.Gln396Leu)
c.412A>T
c.-1096A>T (n.-1096A>T)
11g.119341747T>CCA382971760C1QTNF5,MFRPc.1541A>G (p.Gln514Arg)
c.1187A>G (p.Gln396Arg)
c.412A>G
c.-1096A>G (n.-1096A>G)
 gnomAD v4
11g.119341747T>GCA6320064C1QTNF5,MFRPc.1541A>C (p.Gln514Pro)
c.1187A>C (p.Gln396Pro)
c.412A>C
c.-1096A>C (n.-1096A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341747T=CA2003917841C1QTNF5,MFRPc.1541A= (p.Gln514=)
c.1187A= (p.Gln396=)
c.412A=
c.-1096A= (n.-1096A=)
11g.119341748G>ACA229675181C1QTNF5,MFRPc.1540C>T (p.Gln514Ter)
c.1186C>T (p.Gln396Ter)
c.411C>T
c.-1097C>T (n.-1097C>T)
 dbSNP gnomAD v4
11g.119341748G>CCA382971764C1QTNF5,MFRPc.1540C>G (p.Gln514Glu)
c.1186C>G (p.Gln396Glu)
c.411C>G
c.-1097C>G (n.-1097C>G)
11g.119341748G=CA2003917849C1QTNF5,MFRPc.1540C= (p.Gln514=)
c.1186C= (p.Gln396=)
c.411C=
c.-1097C= (n.-1097C=)
11g.119341748G>TCA382971763C1QTNF5,MFRPc.1540C>A (p.Gln514Lys)
c.1186C>A (p.Gln396Lys)
c.411C>A
c.-1097C>A (n.-1097C>A)
11g.119341749G>ACA477155444C1QTNF5,MFRPc.1539C>T (p.Tyr513=)
c.1185C>T (p.Tyr395=)
c.410C>T
c.-1098C>T (n.-1098C>T)
11g.119341749G>CCA382971767C1QTNF5,MFRPc.1539C>G (p.Tyr513Ter)
c.1185C>G (p.Tyr395Ter)
c.410C>G
c.-1098C>G (n.-1098C>G)
11g.119341749G>TCA382971768C1QTNF5,MFRPc.1539C>A (p.Tyr513Ter)
c.1185C>A (p.Tyr395Ter)
c.410C>A
c.-1098C>A (n.-1098C>A)
 gnomAD v4
11g.119341750T>ACA382971770C1QTNF5,MFRPc.1538A>T (p.Tyr513Phe)
c.1184A>T (p.Tyr395Phe)
c.409A>T
c.-1099A>T (n.-1099A>T)
11g.119341750T>CCA6320065C1QTNF5,MFRPc.1538A>G (p.Tyr513Cys)
c.1184A>G (p.Tyr395Cys)
c.409A>G
c.-1099A>G (n.-1099A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341750T>GCA382971773C1QTNF5,MFRPc.1538A>C (p.Tyr513Ser)
c.1184A>C (p.Tyr395Ser)
c.409A>C
c.-1099A>C (n.-1099A>C)
11g.119341750T=CA2003917855C1QTNF5,MFRPc.1538A= (p.Tyr513=)
c.1184A= (p.Tyr395=)
c.409A=
c.-1099A= (n.-1099A=)
11g.119341751A=CA2003917859C1QTNF5,MFRPc.1537T= (p.Tyr513=)
c.1183T= (p.Tyr395=)
c.408T=
c.-1100T= (n.-1100T=)
11g.119341751A>CCA382971775C1QTNF5,MFRPc.1537T>G (p.Tyr513Asp)
c.1183T>G (p.Tyr395Asp)
c.408T>G
c.-1100T>G (n.-1100T>G)
11g.119341751A>GCA6320066C1QTNF5,MFRPc.1537T>C (p.Tyr513His)
c.1183T>C (p.Tyr395His)
c.408T>C
c.-1100T>C (n.-1100T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341751A>TCA382971777C1QTNF5,MFRPc.1537T>A (p.Tyr513Asn)
c.1183T>A (p.Tyr395Asn)
c.408T>A
c.-1100T>A (n.-1100T>A)
11g.119341752G>ACA477155445C1QTNF5,MFRPc.1536C>T (p.Cys512=)
c.1182C>T (p.Cys394=)
c.407C>T
c.-1101C>T (n.-1101C>T)
11g.119341752G>CCA382971779C1QTNF5,MFRPc.1536C>G (p.Cys512Trp)
c.1182C>G (p.Cys394Trp)
c.407C>G
c.-1101C>G (n.-1101C>G)
11g.119341752G>TCA382971781C1QTNF5,MFRPc.1536C>A (p.Cys512Ter)
c.1182C>A (p.Cys394Ter)
c.407C>A
c.-1101C>A (n.-1101C>A)
11g.119341753C>ACA382971782C1QTNF5,MFRPc.1535G>T (p.Cys512Phe)
c.1181G>T (p.Cys394Phe)
c.406G>T
c.-1102G>T (n.-1102G>T)
11g.119341753C=CA2003917861C1QTNF5,MFRPc.1535G= (p.Cys512=)
c.1181G= (p.Cys394=)
c.406G=
c.-1102G= (n.-1102G=)
11g.119341753C>GCA382971783C1QTNF5,MFRPc.1535G>C (p.Cys512Ser)
c.1181G>C (p.Cys394Ser)
c.406G>C
c.-1102G>C (n.-1102G>C)
11g.119341753C>TCA382971784C1QTNF5,MFRPc.1535G>A (p.Cys512Tyr)
c.1181G>A (p.Cys394Tyr)
c.406G>A
c.-1102G>A (n.-1102G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.119341754A>CCA382971788C1QTNF5,MFRPc.1534T>G (p.Cys512Gly)
c.1180T>G (p.Cys394Gly)
c.405T>G
c.-1103T>G (n.-1103T>G)
11g.119341754A>GCA382971789C1QTNF5,MFRPc.1534T>C (p.Cys512Arg)
c.1180T>C (p.Cys394Arg)
c.405T>C
c.-1103T>C (n.-1103T>C)
11g.119341754A>TCA382971786C1QTNF5,MFRPc.1534T>A (p.Cys512Ser)
c.1180T>A (p.Cys394Ser)
c.405T>A
c.-1103T>A (n.-1103T>A)
11g.119341755G>ACA477155446C1QTNF5,MFRPc.1533C>T (p.Pro511=)
c.1179C>T (p.Pro393=)
c.404C>T
c.-1104C>T (n.-1104C>T)
11g.119341755G>CCA477155447C1QTNF5,MFRPc.1533C>G (p.Pro511=)
c.1179C>G (p.Pro393=)
c.404C>G
c.-1104C>G (n.-1104C>G)
11g.119341755G>TCA477155448C1QTNF5,MFRPc.1533C>A (p.Pro511=)
c.1179C>A (p.Pro393=)
c.404C>A
c.-1104C>A (n.-1104C>A)
11g.119341757dupCA2838545238C1QTNF5,MFRPc.1533dup (p.Cys512LeufsTer?)
c.1179dup (p.Cys394LeufsTer?)
c.404dup
c.-1104dup (n.-1104dup)
11g.119341756G>ACA382971791C1QTNF5,MFRPc.1532C>T (p.Pro511Leu)
c.1178C>T (p.Pro393Leu)
c.403C>T
c.-1105C>T (n.-1105C>T)
 gnomAD v4
11g.119341756G>CCA382971794C1QTNF5,MFRPc.1532C>G (p.Pro511Arg)
c.1178C>G (p.Pro393Arg)
c.403C>G
c.-1105C>G (n.-1105C>G)
11g.119341756G>TCA382971793C1QTNF5,MFRPc.1532C>A (p.Pro511His)
c.1178C>A (p.Pro393His)
c.403C>A
c.-1105C>A (n.-1105C>A)
11g.119341757G>ACA382971797C1QTNF5,MFRPc.1531C>T (p.Pro511Ser)
c.1177C>T (p.Pro393Ser)
c.402C>T
c.-1106C>T (n.-1106C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119341757G>CCA382971798C1QTNF5,MFRPc.1531C>G (p.Pro511Ala)
c.1177C>G (p.Pro393Ala)
c.402C>G
c.-1106C>G (n.-1106C>G)
 gnomAD v4
11g.119341757G=CA2003917868C1QTNF5,MFRPc.1531C= (p.Pro511=)
c.1177C= (p.Pro393=)
c.402C=
c.-1106C= (n.-1106C=)
11g.119341757G>TCA382971800C1QTNF5,MFRPc.1531C>A (p.Pro511Thr)
c.1177C>A (p.Pro393Thr)
c.402C>A
c.-1106C>A (n.-1106C>A)
11g.119341758C>ACA477155449C1QTNF5,MFRPc.1530G>T (p.Leu510=)
c.1176G>T (p.Leu392=)
c.401G>T
c.-1107G>T (n.-1107G>T)
11g.119341758C>GCA477155450C1QTNF5,MFRPc.1530G>C (p.Leu510=)
c.1176G>C (p.Leu392=)
c.401G>C
c.-1107G>C (n.-1107G>C)
11g.119341758C>TCA477155451C1QTNF5,MFRPc.1530G>A (p.Leu510=)
c.1176G>A (p.Leu392=)
c.401G>A
c.-1107G>A (n.-1107G>A)
11g.119341759A>CCA382971801C1QTNF5,MFRPc.1529T>G (p.Leu510Arg)
c.1175T>G (p.Leu392Arg)
c.400T>G
c.-1108T>G (n.-1108T>G)
11g.119341759A>GCA382971802C1QTNF5,MFRPc.1529T>C (p.Leu510Pro)
c.1175T>C (p.Leu392Pro)
c.400T>C
c.-1108T>C (n.-1108T>C)
 ClinVar dbSNP
11g.119341759A>TCA382971804C1QTNF5,MFRPc.1529T>A (p.Leu510Gln)
c.1175T>A (p.Leu392Gln)
c.400T>A
c.-1108T>A (n.-1108T>A)
11g.119341760G>ACA477155452C1QTNF5,MFRPc.1528C>T (p.Leu510=)
c.1174C>T (p.Leu392=)
c.399C>T
c.-1109C>T (n.-1109C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.119341760G>CCA382971805C1QTNF5,MFRPc.1528C>G (p.Leu510Val)
c.1174C>G (p.Leu392Val)
c.399C>G
c.-1109C>G (n.-1109C>G)
11g.119341760G=CA2003917874C1QTNF5,MFRPc.1528C= (p.Leu510=)
c.1174C= (p.Leu392=)
c.399C=
c.-1109C= (n.-1109C=)
11g.119341760G>TCA382971807C1QTNF5,MFRPc.1528C>A (p.Leu510Met)
c.1174C>A (p.Leu392Met)
c.399C>A
c.-1109C>A (n.-1109C>A)
11g.119341761G>ACA477155453C1QTNF5,MFRPc.1527C>T (p.Ser509=)
c.1173C>T (p.Ser391=)
c.398C>T
c.-1110C>T (n.-1110C>T)
11g.119341761G>CCA382971808C1QTNF5,MFRPc.1527C>G (p.Ser509Arg)
c.1173C>G (p.Ser391Arg)
c.398C>G
c.-1110C>G (n.-1110C>G)
11g.119341761G>TCA382971810C1QTNF5,MFRPc.1527C>A (p.Ser509Arg)
c.1173C>A (p.Ser391Arg)
c.398C>A
c.-1110C>A (n.-1110C>A)
 gnomAD v4
11g.119341762C>ACA382971815C1QTNF5,MFRPc.1526G>T (p.Ser509Ile)
c.1172G>T (p.Ser391Ile)
c.397G>T
c.-1111G>T (n.-1111G>T)
11g.119341762C>GCA382971814C1QTNF5,MFRPc.1526G>C (p.Ser509Thr)
c.1172G>C (p.Ser391Thr)
c.397G>C
c.-1111G>C (n.-1111G>C)
 gnomAD v4
11g.119341762C>TCA382971812C1QTNF5,MFRPc.1526G>A (p.Ser509Asn)
c.1172G>A (p.Ser391Asn)
c.397G>A
c.-1111G>A (n.-1111G>A)
11g.119341763T>ACA382971817C1QTNF5,MFRPc.1525A>T (p.Ser509Cys)
c.1171A>T (p.Ser391Cys)
c.396A>T
c.-1112A>T (n.-1112A>T)
11g.119341763T>CCA382971818C1QTNF5,MFRPc.1525A>G (p.Ser509Gly)
c.1171A>G (p.Ser391Gly)
c.396A>G
c.-1112A>G (n.-1112A>G)
11g.119341763T>GCA382971820C1QTNF5,MFRPc.1525A>C (p.Ser509Arg)
c.1171A>C (p.Ser391Arg)
c.396A>C
c.-1112A>C (n.-1112A>C)
11g.119341764T>ACA477155454C1QTNF5,MFRPc.1524A>T (p.Thr508=)
c.1170A>T (p.Thr390=)
c.395A>T
c.-1113A>T (n.-1113A>T)
11g.119341764T>CCA477155455C1QTNF5,MFRPc.1524A>G (p.Thr508=)
c.1170A>G (p.Thr390=)
c.395A>G
c.-1113A>G (n.-1113A>G)
11g.119341764T>GCA477155456C1QTNF5,MFRPc.1524A>C (p.Thr508=)
c.1170A>C (p.Thr390=)
c.395A>C
c.-1113A>C (n.-1113A>C)
11g.119341765G>ACA229675184C1QTNF5,MFRPc.1523C>T (p.Thr508Ile)
c.1169C>T (p.Thr390Ile)
c.394C>T
c.-1114C>T (n.-1114C>T)
 dbSNP
11g.119341765G>CCA6320067C1QTNF5,MFRPc.1523C>G (p.Thr508Arg)
c.1169C>G (p.Thr390Arg)
c.394C>G
c.-1114C>G (n.-1114C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341765G=CA2003917878C1QTNF5,MFRPc.1523C= (p.Thr508=)
c.1169C= (p.Thr390=)
c.394C=
c.-1114C= (n.-1114C=)
11g.119341765G>TCA382971821C1QTNF5,MFRPc.1523C>A (p.Thr508Lys)
c.1169C>A (p.Thr390Lys)
c.394C>A
c.-1114C>A (n.-1114C>A)
11g.119341766T>ACA382971824C1QTNF5,MFRPc.1522A>T (p.Thr508Ser)
c.1168A>T (p.Thr390Ser)
c.393A>T
c.-1115A>T (n.-1115A>T)
11g.119341766T>CCA382971825C1QTNF5,MFRPc.1522A>G (p.Thr508Ala)
c.1168A>G (p.Thr390Ala)
c.393A>G
c.-1115A>G (n.-1115A>G)
11g.119341766T>GCA382971826C1QTNF5,MFRPc.1522A>C (p.Thr508Pro)
c.1168A>C (p.Thr390Pro)
c.393A>C
c.-1115A>C (n.-1115A>C)
11g.119341767C>ACA477155457C1QTNF5,MFRPc.1521G>T (p.Leu507=)
c.1167G>T (p.Leu389=)
c.392G>T
c.-1116G>T (n.-1116G>T)
11g.119341767C=CA2003917882C1QTNF5,MFRPc.1521G= (p.Leu507=)
c.1167G= (p.Leu389=)
c.392G=
c.-1116G= (n.-1116G=)
11g.119341767C>GCA477155458C1QTNF5,MFRPc.1521G>C (p.Leu507=)
c.1167G>C (p.Leu389=)
c.392G>C
c.-1116G>C (n.-1116G>C)
11g.119341767C>TCA477155459C1QTNF5,MFRPc.1521G>A (p.Leu507=)
c.1167G>A (p.Leu389=)
c.392G>A
c.-1116G>A (n.-1116G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched