Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.119341567T>ACA382971307C1QTNF5,MFRPc.1721A>T (p.Glu574Val)
c.1367A>T (p.Glu456Val)
c.-916A>T (n.-916A>T)
11g.119341567T>CCA382971309C1QTNF5,MFRPc.1721A>G (p.Glu574Gly)
c.1367A>G (p.Glu456Gly)
c.-916A>G (n.-916A>G)
11g.119341567T>GCA382971308C1QTNF5,MFRPc.1721A>C (p.Glu574Ala)
c.1367A>C (p.Glu456Ala)
c.-916A>C (n.-916A>C)
11g.119341568C>ACA382971310C1QTNF5,MFRPc.1720G>T (p.Glu574Ter)
c.1366G>T (p.Glu456Ter)
c.-917G>T (n.-917G>T)
11g.119341568C>GCA382971311C1QTNF5,MFRPc.1720G>C (p.Glu574Gln)
c.1366G>C (p.Glu456Gln)
c.-917G>C (n.-917G>C)
 gnomAD v4
11g.119341568C>TCA382971312C1QTNF5,MFRPc.1720G>A (p.Glu574Lys)
c.1366G>A (p.Glu456Lys)
c.-917G>A (n.-917G>A)
11g.119341569C>ACA477155279C1QTNF5,MFRPc.1719G>T (p.Leu573=)
c.1365G>T (p.Leu455=)
c.-918G>T (n.-918G>T)
11g.119341569C=CA2003917443C1QTNF5,MFRPc.1719G= (p.Leu573=)
c.1365G= (p.Leu455=)
c.-918G= (n.-918G=)
11g.119341569C>GCA477155280C1QTNF5,MFRPc.1719G>C (p.Leu573=)
c.1365G>C (p.Leu455=)
c.-918G>C (n.-918G>C)
11g.119341569C>TCA6320034C1QTNF5,MFRPc.1719G>A (p.Leu573=)
c.1365G>A (p.Leu455=)
c.-918G>A (n.-918G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341570A=CA2003917452C1QTNF5,MFRPc.1718T= (p.Leu573=)
c.1364T= (p.Leu455=)
c.-919T= (n.-919T=)
11g.119341570A>CCA382971313C1QTNF5,MFRPc.1718T>G (p.Leu573Arg)
c.1364T>G (p.Leu455Arg)
c.-919T>G (n.-919T>G)
 ClinVar dbSNP
11g.119341570A>GCA382971314C1QTNF5,MFRPc.1718T>C (p.Leu573Pro)
c.1364T>C (p.Leu455Pro)
c.-919T>C (n.-919T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119341570A>TCA382971315C1QTNF5,MFRPc.1718T>A (p.Leu573Gln)
c.1364T>A (p.Leu455Gln)
c.-919T>A (n.-919T>A)
11g.119341571G>ACA477155281C1QTNF5,MFRPc.1717C>T (p.Leu573=)
c.1363C>T (p.Leu455=)
c.-920C>T (n.-920C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.119341571G>CCA382971316C1QTNF5,MFRPc.1717C>G (p.Leu573Val)
c.1363C>G (p.Leu455Val)
c.-920C>G (n.-920C>G)
11g.119341571G=CA2003917456C1QTNF5,MFRPc.1717C= (p.Leu573=)
c.1363C= (p.Leu455=)
c.-920C= (n.-920C=)
11g.119341571G>TCA382971317C1QTNF5,MFRPc.1717C>A (p.Leu573Met)
c.1363C>A (p.Leu455Met)
c.-920C>A (n.-920C>A)
11g.119341572delCA2793833839C1QTNF5,MFRPc.1717del (p.Leu573TrpfsTer?)
c.1363del (p.Leu455TrpfsTer?)
c.-920del (n.-920del)
11g.119341572G>ACA477155282C1QTNF5,MFRPc.1716C>T (p.Asp572=)
c.1362C>T (p.Asp454=)
c.-921C>T (n.-921C>T)
 dbSNP gnomAD v4
11g.119341572G>CCA382971318C1QTNF5,MFRPc.1716C>G (p.Asp572Glu)
c.1362C>G (p.Asp454Glu)
c.-921C>G (n.-921C>G)
 gnomAD v4
11g.119341572G=CA2003917459C1QTNF5,MFRPc.1716C= (p.Asp572=)
c.1362C= (p.Asp454=)
c.-921C= (n.-921C=)
11g.119341572G>TCA382971319C1QTNF5,MFRPc.1716C>A (p.Asp572Glu)
c.1362C>A (p.Asp454Glu)
c.-921C>A (n.-921C>A)
11g.119341573T>ACA382971320C1QTNF5,MFRPc.1715A>T (p.Asp572Val)
c.1361A>T (p.Asp454Val)
c.-922A>T (n.-922A>T)
11g.119341573T>CCA382971322C1QTNF5,MFRPc.1715A>G (p.Asp572Gly)
c.1361A>G (p.Asp454Gly)
c.-922A>G (n.-922A>G)
11g.119341573T>GCA382971321C1QTNF5,MFRPc.1715A>C (p.Asp572Ala)
c.1361A>C (p.Asp454Ala)
c.-922A>C (n.-922A>C)
11g.119341574C>ACA382971323C1QTNF5,MFRPc.1714G>T (p.Asp572Tyr)
c.1360G>T (p.Asp454Tyr)
c.-923G>T (n.-923G>T)
 COSMIC
11g.119341574C>GCA382971324C1QTNF5,MFRPc.1714G>C (p.Asp572His)
c.1360G>C (p.Asp454His)
c.-923G>C (n.-923G>C)
11g.119341574C>TCA382971325C1QTNF5,MFRPc.1714G>A (p.Asp572Asn)
c.1360G>A (p.Asp454Asn)
c.-923G>A (n.-923G>A)
 COSMIC
11g.119341575A>CCA477155283C1QTNF5,MFRPc.1713T>G (p.Ala571=)
c.1359T>G (p.Ala453=)
c.-924T>G (n.-924T>G)
11g.119341575A>GCA477155284C1QTNF5,MFRPc.1713T>C (p.Ala571=)
c.1359T>C (p.Ala453=)
c.-924T>C (n.-924T>C)
11g.119341575A>TCA477155285C1QTNF5,MFRPc.1713T>A (p.Ala571=)
c.1359T>A (p.Ala453=)
c.-924T>A (n.-924T>A)
11g.119341576G>ACA6320035C1QTNF5,MFRPc.1712C>T (p.Ala571Val)
c.1358C>T (p.Ala453Val)
c.-925C>T (n.-925C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341576G>CCA382971326C1QTNF5,MFRPc.1712C>G (p.Ala571Gly)
c.1358C>G (p.Ala453Gly)
c.-925C>G (n.-925C>G)
11g.119341576G=CA2003917462C1QTNF5,MFRPc.1712C= (p.Ala571=)
c.1358C= (p.Ala453=)
c.-925C= (n.-925C=)
11g.119341576G>TCA382971327C1QTNF5,MFRPc.1712C>A (p.Ala571Asp)
c.1358C>A (p.Ala453Asp)
c.-925C>A (n.-925C>A)
11g.119341577C>ACA382971328C1QTNF5,MFRPc.1711G>T (p.Ala571Ser)
c.1357G>T (p.Ala453Ser)
c.-926G>T (n.-926G>T)
11g.119341577C=CA2003917464C1QTNF5,MFRPc.1711G= (p.Ala571=)
c.1357G= (p.Ala453=)
c.-926G= (n.-926G=)
11g.119341577C>GCA382971329C1QTNF5,MFRPc.1711G>C (p.Ala571Pro)
c.1357G>C (p.Ala453Pro)
c.-926G>C (n.-926G>C)
11g.119341577C>TCA382971330C1QTNF5,MFRPc.1711G>A (p.Ala571Thr)
c.1357G>A (p.Ala453Thr)
c.-926G>A (n.-926G>A)
 dbSNP gnomAD v2
11g.119341578T>ACA477155289C1QTNF5,MFRPc.1710A>T (p.Ala570=)
c.1356A>T (p.Ala452=)
c.-927A>T (n.-927A>T)
11g.119341578T>CCA477155288C1QTNF5,MFRPc.1710A>G (p.Ala570=)
c.1356A>G (p.Ala452=)
c.-927A>G (n.-927A>G)
11g.119341578T>GCA477155287C1QTNF5,MFRPc.1710A>C (p.Ala570=)
c.1356A>C (p.Ala452=)
c.-927A>C (n.-927A>C)
11g.119341579G>ACA6320036C1QTNF5,MFRPc.1709C>T (p.Ala570Val)
c.1355C>T (p.Ala452Val)
c.-928C>T (n.-928C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341579G>CCA382971331C1QTNF5,MFRPc.1709C>G (p.Ala570Gly)
c.1355C>G (p.Ala452Gly)
c.-928C>G (n.-928C>G)
11g.119341579G=CA2003917466C1QTNF5,MFRPc.1709C= (p.Ala570=)
c.1355C= (p.Ala452=)
c.-928C= (n.-928C=)
11g.119341579G>TCA382971332C1QTNF5,MFRPc.1709C>A (p.Ala570Glu)
c.1355C>A (p.Ala452Glu)
c.-928C>A (n.-928C>A)
11g.119341580C>ACA229675141C1QTNF5,MFRPc.1708G>T (p.Ala570Ser)
c.1354G>T (p.Ala452Ser)
c.-929G>T (n.-929G>T)
 dbSNP
11g.119341580C=CA2003917471C1QTNF5,MFRPc.1708G= (p.Ala570=)
c.1354G= (p.Ala452=)
c.-929G= (n.-929G=)
11g.119341580C>GCA382971333C1QTNF5,MFRPc.1708G>C (p.Ala570Pro)
c.1354G>C (p.Ala452Pro)
c.-929G>C (n.-929G>C)
11g.119341580C>TCA382971334C1QTNF5,MFRPc.1708G>A (p.Ala570Thr)
c.1354G>A (p.Ala452Thr)
c.-929G>A (n.-929G>A)
 dbSNP gnomAD v4
11g.119341581delCA2616404347C1QTNF5,MFRPc.1708del (p.Ala570GlnfsTer?)
c.1354del (p.Ala452GlnfsTer?)
c.-929del (n.-929del)
 gnomAD v4
11g.119341581C>ACA6320037C1QTNF5,MFRPc.1707G>T (p.Glu569Asp)
c.1353G>T (p.Glu451Asp)
c.-930G>T (n.-930G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341581C=CA2003917476C1QTNF5,MFRPc.1707G= (p.Glu569=)
c.1353G= (p.Glu451=)
c.-930G= (n.-930G=)
11g.119341581C>GCA382971335C1QTNF5,MFRPc.1707G>C (p.Glu569Asp)
c.1353G>C (p.Glu451Asp)
c.-930G>C (n.-930G>C)
11g.119341581C>TCA477155290C1QTNF5,MFRPc.1707G>A (p.Glu569=)
c.1353G>A (p.Glu451=)
c.-930G>A (n.-930G>A)
11g.119341582T>ACA382971336C1QTNF5,MFRPc.1706A>T (p.Glu569Val)
c.1352A>T (p.Glu451Val)
c.-931A>T (n.-931A>T)
11g.119341582T>CCA382971337C1QTNF5,MFRPc.1706A>G (p.Glu569Gly)
c.1352A>G (p.Glu451Gly)
c.-931A>G (n.-931A>G)
11g.119341582T>GCA382971338C1QTNF5,MFRPc.1706A>C (p.Glu569Ala)
c.1352A>C (p.Glu451Ala)
c.-931A>C (n.-931A>C)
11g.119341583C>ACA382971339C1QTNF5,MFRPc.1705G>T (p.Glu569Ter)
c.1351G>T (p.Glu451Ter)
c.-932G>T (n.-932G>T)
11g.119341583C>GCA382971340C1QTNF5,MFRPc.1705G>C (p.Glu569Gln)
c.1351G>C (p.Glu451Gln)
c.-932G>C (n.-932G>C)
 gnomAD v4
11g.119341583C>TCA382971341C1QTNF5,MFRPc.1705G>A (p.Glu569Lys)
c.1351G>A (p.Glu451Lys)
c.-932G>A (n.-932G>A)
11g.119341584T>ACA477155291C1QTNF5,MFRPc.1704A>T (p.Pro568=)
c.1350A>T (p.Pro450=)
c.-933A>T (n.-933A>T)
11g.119341584T>CCA477155292C1QTNF5,MFRPc.1704A>G (p.Pro568=)
c.1350A>G (p.Pro450=)
c.-933A>G (n.-933A>G)
11g.119341584T>GCA477155293C1QTNF5,MFRPc.1704A>C (p.Pro568=)
c.1350A>C (p.Pro450=)
c.-933A>C (n.-933A>C)
11g.119341585G>ACA382971342C1QTNF5,MFRPc.1703C>T (p.Pro568Leu)
c.1349C>T (p.Pro450Leu)
c.-934C>T (n.-934C>T)
11g.119341585G>CCA382971343C1QTNF5,MFRPc.1703C>G (p.Pro568Arg)
c.1349C>G (p.Pro450Arg)
c.-934C>G (n.-934C>G)
11g.119341585G>TCA382971344C1QTNF5,MFRPc.1703C>A (p.Pro568Gln)
c.1349C>A (p.Pro450Gln)
c.-934C>A (n.-934C>A)
 dbSNP
11g.119341586delCA2725145491C1QTNF5,MFRPc.1703del (p.Pro568GlnfsTer?)
c.1349del (p.Pro450GlnfsTer?)
c.-934del (n.-934del)
 dbSNP
11g.119341586G>ACA382971346C1QTNF5,MFRPc.1702C>T (p.Pro568Ser)
c.1348C>T (p.Pro450Ser)
c.-935C>T (n.-935C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.119341586G>CCA382971347C1QTNF5,MFRPc.1702C>G (p.Pro568Ala)
c.1348C>G (p.Pro450Ala)
c.-935C>G (n.-935C>G)
 gnomAD v4
11g.119341586G=CA2003917480C1QTNF5,MFRPc.1702C= (p.Pro568=)
c.1348C= (p.Pro450=)
c.-935C= (n.-935C=)
11g.119341586G>TCA382971345C1QTNF5,MFRPc.1702C>A (p.Pro568Thr)
c.1348C>A (p.Pro450Thr)
c.-935C>A (n.-935C>A)
11g.119341587C>ACA477155296C1QTNF5,MFRPc.1701G>T (p.Leu567=)
c.1347G>T (p.Leu449=)
c.-936G>T (n.-936G>T)
 gnomAD v4
11g.119341587C>GCA477155295C1QTNF5,MFRPc.1701G>C (p.Leu567=)
c.1347G>C (p.Leu449=)
c.-936G>C (n.-936G>C)
11g.119341587C>TCA477155294C1QTNF5,MFRPc.1701G>A (p.Leu567=)
c.1347G>A (p.Leu449=)
c.-936G>A (n.-936G>A)
 gnomAD v4
11g.119341588A>CCA382971348C1QTNF5,MFRPc.1700T>G (p.Leu567Arg)
c.1346T>G (p.Leu449Arg)
c.-937T>G (n.-937T>G)
11g.119341588A>GCA382971349C1QTNF5,MFRPc.1700T>C (p.Leu567Pro)
c.1346T>C (p.Leu449Pro)
c.-937T>C (n.-937T>C)
11g.119341588A>TCA382971350C1QTNF5,MFRPc.1700T>A (p.Leu567Gln)
c.1346T>A (p.Leu449Gln)
c.-937T>A (n.-937T>A)
11g.119341589G>ACA477155297C1QTNF5,MFRPc.1699C>T (p.Leu567=)
c.1345C>T (p.Leu449=)
c.-938C>T (n.-938C>T)
11g.119341589G>CCA382971351C1QTNF5,MFRPc.1699C>G (p.Leu567Val)
c.1345C>G (p.Leu449Val)
c.-938C>G (n.-938C>G)
11g.119341589G>TCA382971352C1QTNF5,MFRPc.1699C>A (p.Leu567Met)
c.1345C>A (p.Leu449Met)
c.-938C>A (n.-938C>A)
 dbSNP
11g.119341590C>ACA382971353C1QTNF5,MFRPc.1698G>T (p.Arg566Ser)
c.1344G>T (p.Arg448Ser)
c.-939G>T (n.-939G>T)
11g.119341590C>GCA382971354C1QTNF5,MFRPc.1698G>C (p.Arg566Ser)
c.1344G>C (p.Arg448Ser)
c.-939G>C (n.-939G>C)
11g.119341590C>TCA477155298C1QTNF5,MFRPc.1698G>A (p.Arg566=)
c.1344G>A (p.Arg448=)
c.-939G>A (n.-939G>A)
 gnomAD v4
11g.119341591C>ACA382971355C1QTNF5,MFRPc.1697G>T (p.Arg566Met)
c.1343G>T (p.Arg448Met)
c.-940G>T (n.-940G>T)
11g.119341591C=CA2003917483C1QTNF5,MFRPc.1697G= (p.Arg566=)
c.1343G= (p.Arg448=)
c.-940G= (n.-940G=)
11g.119341591C>GCA382971356C1QTNF5,MFRPc.1697G>C (p.Arg566Thr)
c.1343G>C (p.Arg448Thr)
c.-940G>C (n.-940G>C)
11g.119341591C>TCA229675143C1QTNF5,MFRPc.1697G>A (p.Arg566Lys)
c.1343G>A (p.Arg448Lys)
c.-940G>A (n.-940G>A)
 dbSNP gnomAD v4
11g.119341592T>ACA382971357C1QTNF5,MFRPc.1696A>T (p.Arg566Trp)
c.1342A>T (p.Arg448Trp)
c.-941A>T (n.-941A>T)
11g.119341592T>CCA382971358C1QTNF5,MFRPc.1696A>G (p.Arg566Gly)
c.1342A>G (p.Arg448Gly)
c.-941A>G (n.-941A>G)
11g.119341592T>GCA477155299C1QTNF5,MFRPc.1696A>C (p.Arg566=)
c.1342A>C (p.Arg448=)
c.-941A>C (n.-941A>C)
11g.119341593G>ACA477155300C1QTNF5,MFRPc.1695C>T (p.Asn565=)
c.1341C>T (p.Asn447=)
c.-942C>T (n.-942C>T)
 gnomAD v4
11g.119341593G>CCA382971359C1QTNF5,MFRPc.1695C>G (p.Asn565Lys)
c.1341C>G (p.Asn447Lys)
c.-942C>G (n.-942C>G)
11g.119341593G>TCA382971360C1QTNF5,MFRPc.1695C>A (p.Asn565Lys)
c.1341C>A (p.Asn447Lys)
c.-942C>A (n.-942C>A)
11g.119341594T>ACA382971363C1QTNF5,MFRPc.1694A>T (p.Asn565Ile)
c.1340A>T (p.Asn447Ile)
c.565A>T
c.-943A>T (n.-943A>T)
11g.119341594T>CCA382971361C1QTNF5,MFRPc.1694A>G (p.Asn565Ser)
c.1340A>G (p.Asn447Ser)
c.565A>G
c.-943A>G (n.-943A>G)
11g.119341594T>GCA382971362C1QTNF5,MFRPc.1694A>C (p.Asn565Thr)
c.1340A>C (p.Asn447Thr)
c.565A>C
c.-943A>C (n.-943A>C)
11g.119341595T>ACA382971364C1QTNF5,MFRPc.1693A>T (p.Asn565Tyr)
c.1339A>T (p.Asn447Tyr)
c.564A>T
c.-944A>T (n.-944A>T)
11g.119341595T>CCA382971365C1QTNF5,MFRPc.1693A>G (p.Asn565Asp)
c.1339A>G (p.Asn447Asp)
c.564A>G
c.-944A>G (n.-944A>G)
11g.119341595T>GCA382971366C1QTNF5,MFRPc.1693A>C (p.Asn565His)
c.1339A>C (p.Asn447His)
c.564A>C
c.-944A>C (n.-944A>C)
 gnomAD v4
11g.119341596G>ACA477155301C1QTNF5,MFRPc.1692C>T (p.Cys564=)
c.1338C>T (p.Cys446=)
c.563C>T
c.-945C>T (n.-945C>T)
 gnomAD v4
11g.119341596G>CCA382971367C1QTNF5,MFRPc.1692C>G (p.Cys564Trp)
c.1338C>G (p.Cys446Trp)
c.563C>G
c.-945C>G (n.-945C>G)
11g.119341596G>TCA382971368C1QTNF5,MFRPc.1692C>A (p.Cys564Ter)
c.1338C>A (p.Cys446Ter)
c.563C>A
c.-945C>A (n.-945C>A)
11g.119341597C>ACA382971369C1QTNF5,MFRPc.1691G>T (p.Cys564Phe)
c.1337G>T (p.Cys446Phe)
c.562G>T
c.-946G>T (n.-946G>T)
11g.119341597C=CA2003917486C1QTNF5,MFRPc.1691G= (p.Cys564=)
c.1337G= (p.Cys446=)
c.562G=
c.-946G= (n.-946G=)
11g.119341597C>GCA382971370C1QTNF5,MFRPc.1691G>C (p.Cys564Ser)
c.1337G>C (p.Cys446Ser)
c.562G>C
c.-946G>C (n.-946G>C)
11g.119341597C>TCA382971371C1QTNF5,MFRPc.1691G>A (p.Cys564Tyr)
c.1337G>A (p.Cys446Tyr)
c.562G>A
c.-946G>A (n.-946G>A)
 dbSNP
11g.119341598A=CA2003917489C1QTNF5,MFRPc.1690T= (p.Cys564=)
c.1336T= (p.Cys446=)
c.561T=
c.-947T= (n.-947T=)
11g.119341598A>CCA382971372C1QTNF5,MFRPc.1690T>G (p.Cys564Gly)
c.1336T>G (p.Cys446Gly)
c.561T>G
c.-947T>G (n.-947T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.119341598A>GCA382971373C1QTNF5,MFRPc.1690T>C (p.Cys564Arg)
c.1336T>C (p.Cys446Arg)
c.561T>C
c.-947T>C (n.-947T>C)
11g.119341598A>TCA382971374C1QTNF5,MFRPc.1690T>A (p.Cys564Ser)
c.1336T>A (p.Cys446Ser)
c.561T>A
c.-947T>A (n.-947T>A)
11g.119341599G>ACA477155302C1QTNF5,MFRPc.1689C>T (p.Asn563=)
c.1335C>T (p.Asn445=)
c.560C>T
c.-948C>T (n.-948C>T)
11g.119341599G>CCA382971375C1QTNF5,MFRPc.1689C>G (p.Asn563Lys)
c.1335C>G (p.Asn445Lys)
c.560C>G
c.-948C>G (n.-948C>G)
11g.119341599G>TCA382971376C1QTNF5,MFRPc.1689C>A (p.Asn563Lys)
c.1335C>A (p.Asn445Lys)
c.560C>A
c.-948C>A (n.-948C>A)
11g.119341600T>ACA382971377C1QTNF5,MFRPc.1688A>T (p.Asn563Ile)
c.1334A>T (p.Asn445Ile)
c.559A>T
c.-949A>T (n.-949A>T)
11g.119341600T>CCA382971379C1QTNF5,MFRPc.1688A>G (p.Asn563Ser)
c.1334A>G (p.Asn445Ser)
c.559A>G
c.-949A>G (n.-949A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119341600T>GCA382971378C1QTNF5,MFRPc.1688A>C (p.Asn563Thr)
c.1334A>C (p.Asn445Thr)
c.559A>C
c.-949A>C (n.-949A>C)
11g.119341600T=CA2003917490C1QTNF5,MFRPc.1688A= (p.Asn563=)
c.1334A= (p.Asn445=)
c.559A=
c.-949A= (n.-949A=)
11g.119341601T>ACA382971380C1QTNF5,MFRPc.1687A>T (p.Asn563Tyr)
c.1333A>T (p.Asn445Tyr)
c.558A>T
c.-950A>T (n.-950A>T)
11g.119341601T>CCA382971381C1QTNF5,MFRPc.1687A>G (p.Asn563Asp)
c.1333A>G (p.Asn445Asp)
c.558A>G
c.-950A>G (n.-950A>G)
11g.119341601T>GCA382971382C1QTNF5,MFRPc.1687A>C (p.Asn563His)
c.1333A>C (p.Asn445His)
c.558A>C
c.-950A>C (n.-950A>C)
11g.119341602G>ACA477155303C1QTNF5,MFRPc.1686C>T (p.Phe562=)
c.1332C>T (p.Phe444=)
c.557C>T
c.-951C>T (n.-951C>T)
11g.119341602G>CCA382971383C1QTNF5,MFRPc.1686C>G (p.Phe562Leu)
c.1332C>G (p.Phe444Leu)
c.557C>G
c.-951C>G (n.-951C>G)
11g.119341602G>TCA382971384C1QTNF5,MFRPc.1686C>A (p.Phe562Leu)
c.1332C>A (p.Phe444Leu)
c.557C>A
c.-951C>A (n.-951C>A)
11g.119341603A=CA2003917493C1QTNF5,MFRPc.1685T= (p.Phe562=)
c.1331T= (p.Phe444=)
c.556T=
c.-952T= (n.-952T=)
11g.119341603A>CCA382971387C1QTNF5,MFRPc.1685T>G (p.Phe562Cys)
c.1331T>G (p.Phe444Cys)
c.556T>G
c.-952T>G (n.-952T>G)
11g.119341603A>GCA382971386C1QTNF5,MFRPc.1685T>C (p.Phe562Ser)
c.1331T>C (p.Phe444Ser)
c.556T>C
c.-952T>C (n.-952T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.119341603A>TCA382971385C1QTNF5,MFRPc.1685T>A (p.Phe562Tyr)
c.1331T>A (p.Phe444Tyr)
c.556T>A
c.-952T>A (n.-952T>A)
11g.119341604A>CCA382971388C1QTNF5,MFRPc.1684T>G (p.Phe562Val)
c.1330T>G (p.Phe444Val)
c.555T>G
c.-953T>G (n.-953T>G)
11g.119341604A>GCA382971389C1QTNF5,MFRPc.1684T>C (p.Phe562Leu)
c.1330T>C (p.Phe444Leu)
c.555T>C
c.-953T>C (n.-953T>C)
11g.119341604A>TCA382971390C1QTNF5,MFRPc.1684T>A (p.Phe562Ile)
c.1330T>A (p.Phe444Ile)
c.555T>A
c.-953T>A (n.-953T>A)
11g.119341605G>ACA477155304C1QTNF5,MFRPc.1683C>T (p.Pro561=)
c.1329C>T (p.Pro443=)
c.554C>T
c.-954C>T (n.-954C>T)
 gnomAD v4
11g.119341605G>CCA477155305C1QTNF5,MFRPc.1683C>G (p.Pro561=)
c.1329C>G (p.Pro443=)
c.554C>G
c.-954C>G (n.-954C>G)
11g.119341605G>TCA477155306C1QTNF5,MFRPc.1683C>A (p.Pro561=)
c.1329C>A (p.Pro443=)
c.554C>A
c.-954C>A (n.-954C>A)
11g.119341606G>ACA6320038C1QTNF5,MFRPc.1682C>T (p.Pro561Leu)
c.1328C>T (p.Pro443Leu)
c.553C>T
c.-955C>T (n.-955C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341606G>CCA382971391C1QTNF5,MFRPc.1682C>G (p.Pro561Arg)
c.1328C>G (p.Pro443Arg)
c.553C>G
c.-955C>G (n.-955C>G)
11g.119341606G=CA2003917498C1QTNF5,MFRPc.1682C= (p.Pro561=)
c.1328C= (p.Pro443=)
c.553C=
c.-955C= (n.-955C=)
11g.119341606G>TCA382971392C1QTNF5,MFRPc.1682C>A (p.Pro561His)
c.1328C>A (p.Pro443His)
c.553C>A
c.-955C>A (n.-955C>A)
11g.119341607G>ACA382971393C1QTNF5,MFRPc.1681C>T (p.Pro561Ser)
c.1327C>T (p.Pro443Ser)
c.552C>T
c.-956C>T (n.-956C>T)
11g.119341607G>CCA382971395C1QTNF5,MFRPc.1681C>G (p.Pro561Ala)
c.1327C>G (p.Pro443Ala)
c.552C>G
c.-956C>G (n.-956C>G)
11g.119341607G>TCA382971394C1QTNF5,MFRPc.1681C>A (p.Pro561Thr)
c.1327C>A (p.Pro443Thr)
c.552C>A
c.-956C>A (n.-956C>A)
11g.119341608C>ACA382971396C1QTNF5,MFRPc.1680G>T (p.Trp560Cys)
c.1326G>T (p.Trp442Cys)
c.551G>T
c.-957G>T (n.-957G>T)
11g.119341608C>GCA382971397C1QTNF5,MFRPc.1680G>C (p.Trp560Cys)
c.1326G>C (p.Trp442Cys)
c.551G>C
c.-957G>C (n.-957G>C)
11g.119341608C>TCA382971398C1QTNF5,MFRPc.1680G>A (p.Trp560Ter)
c.1326G>A (p.Trp442Ter)
c.551G>A
c.-957G>A (n.-957G>A)
11g.119341609C>ACA382971399C1QTNF5,MFRPc.1679G>T (p.Trp560Leu)
c.1325G>T (p.Trp442Leu)
c.550G>T
c.-958G>T (n.-958G>T)
11g.119341609C>GCA382971400C1QTNF5,MFRPc.1679G>C (p.Trp560Ser)
c.1325G>C (p.Trp442Ser)
c.550G>C
c.-958G>C (n.-958G>C)
11g.119341609C>TCA382971401C1QTNF5,MFRPc.1679G>A (p.Trp560Ter)
c.1325G>A (p.Trp442Ter)
c.550G>A
c.-958G>A (n.-958G>A)
11g.119341609_119341610delinsCACA2003917504C1QTNF5,MFRPc.1678_1679delinsTG (p.Trp560=)
c.1324_1325delinsTG (p.Trp442=)
c.549_550delinsTG
c.-959_-958delinsTG (n.-959_-958delinsTG)
11g.119341610delCA6320039C1QTNF5,MFRPc.1678del (p.Trp560GlyfsTer?)
c.1324del (p.Trp442GlyfsTer?)
c.549del
c.-959del (n.-959del)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341610A>CCA382971402C1QTNF5,MFRPc.1678T>G (p.Trp560Gly)
c.1324T>G (p.Trp442Gly)
c.549T>G
c.-959T>G (n.-959T>G)
11g.119341610A>GCA382971403C1QTNF5,MFRPc.1678T>C (p.Trp560Arg)
c.1324T>C (p.Trp442Arg)
c.549T>C
c.-959T>C (n.-959T>C)
11g.119341610A>TCA382971404C1QTNF5,MFRPc.1678T>A (p.Trp560Arg)
c.1324T>A (p.Trp442Arg)
c.549T>A
c.-959T>A (n.-959T>A)
 gnomAD v4
11g.119341611G>ACA477155307C1QTNF5,MFRPc.1677C>T (p.Pro559=)
c.1323C>T (p.Pro441=)
c.548C>T
c.-960C>T (n.-960C>T)
11g.119341611G>CCA477155308C1QTNF5,MFRPc.1677C>G (p.Pro559=)
c.1323C>G (p.Pro441=)
c.548C>G
c.-960C>G (n.-960C>G)
11g.119341611G>TCA477155309C1QTNF5,MFRPc.1677C>A (p.Pro559=)
c.1323C>A (p.Pro441=)
c.548C>A
c.-960C>A (n.-960C>A)
11g.119341612G>ACA382971407C1QTNF5,MFRPc.1676C>T (p.Pro559Leu)
c.1322C>T (p.Pro441Leu)
c.547C>T
c.-961C>T (n.-961C>T)
11g.119341612G>CCA382971406C1QTNF5,MFRPc.1676C>G (p.Pro559Arg)
c.1322C>G (p.Pro441Arg)
c.547C>G
c.-961C>G (n.-961C>G)
11g.119341612G>TCA382971405C1QTNF5,MFRPc.1676C>A (p.Pro559His)
c.1322C>A (p.Pro441His)
c.547C>A
c.-961C>A (n.-961C>A)
11g.119341613G>ACA382971408C1QTNF5,MFRPc.1675C>T (p.Pro559Ser)
c.1321C>T (p.Pro441Ser)
c.546C>T
c.-962C>T (n.-962C>T)
11g.119341613G>CCA382971409C1QTNF5,MFRPc.1675C>G (p.Pro559Ala)
c.1321C>G (p.Pro441Ala)
c.546C>G
c.-962C>G (n.-962C>G)
11g.119341613G>TCA382971410C1QTNF5,MFRPc.1675C>A (p.Pro559Thr)
c.1321C>A (p.Pro441Thr)
c.546C>A
c.-962C>A (n.-962C>A)
 gnomAD v4
11g.119341614G>ACA477155310C1QTNF5,MFRPc.1674C>T (p.Thr558=)
c.1320C>T (p.Thr440=)
c.545C>T
c.-963C>T (n.-963C>T)
11g.119341614G>CCA477155311C1QTNF5,MFRPc.1674C>G (p.Thr558=)
c.1320C>G (p.Thr440=)
c.545C>G
c.-963C>G (n.-963C>G)
11g.119341614G=CA2003917509C1QTNF5,MFRPc.1674C= (p.Thr558=)
c.1320C= (p.Thr440=)
c.545C=
c.-963C= (n.-963C=)
11g.119341614G>TCA477155312C1QTNF5,MFRPc.1674C>A (p.Thr558=)
c.1320C>A (p.Thr440=)
c.545C>A
c.-963C>A (n.-963C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.119341615G>ACA382971411C1QTNF5,MFRPc.1673C>T (p.Thr558Ile)
c.1319C>T (p.Thr440Ile)
c.544C>T
c.-964C>T (n.-964C>T)
11g.119341615G>CCA382971412C1QTNF5,MFRPc.1673C>G (p.Thr558Ser)
c.1319C>G (p.Thr440Ser)
c.544C>G
c.-964C>G (n.-964C>G)
11g.119341615G=CA2003917514C1QTNF5,MFRPc.1673C= (p.Thr558=)
c.1319C= (p.Thr440=)
c.544C=
c.-964C= (n.-964C=)
11g.119341615G>TCA382971413C1QTNF5,MFRPc.1673C>A (p.Thr558Asn)
c.1319C>A (p.Thr440Asn)
c.544C>A
c.-964C>A (n.-964C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119341616T>ACA382971416C1QTNF5,MFRPc.1672A>T (p.Thr558Ser)
c.1318A>T (p.Thr440Ser)
c.543A>T
c.-965A>T (n.-965A>T)
11g.119341616T>CCA382971415C1QTNF5,MFRPc.1672A>G (p.Thr558Ala)
c.1318A>G (p.Thr440Ala)
c.543A>G
c.-965A>G (n.-965A>G)
11g.119341616T>GCA382971414C1QTNF5,MFRPc.1672A>C (p.Thr558Pro)
c.1318A>C (p.Thr440Pro)
c.543A>C
c.-965A>C (n.-965A>C)
11g.119341617G>ACA477155313C1QTNF5,MFRPc.1671C>T (p.Gly557=)
c.1317C>T (p.Gly439=)
c.542C>T
c.-966C>T (n.-966C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.119341617G>CCA477155314C1QTNF5,MFRPc.1671C>G (p.Gly557=)
c.1317C>G (p.Gly439=)
c.542C>G
c.-966C>G (n.-966C>G)
11g.119341617G=CA2003917520C1QTNF5,MFRPc.1671C= (p.Gly557=)
c.1317C= (p.Gly439=)
c.542C=
c.-966C= (n.-966C=)
11g.119341617G>TCA477155315C1QTNF5,MFRPc.1671C>A (p.Gly557=)
c.1317C>A (p.Gly439=)
c.542C>A
c.-966C>A (n.-966C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.119341618C>ACA382971417C1QTNF5,MFRPc.1670G>T (p.Gly557Val)
c.1316G>T (p.Gly439Val)
c.541G>T
c.-967G>T (n.-967G>T)
11g.119341618C>GCA382971418C1QTNF5,MFRPc.1670G>C (p.Gly557Ala)
c.1316G>C (p.Gly439Ala)
c.541G>C
c.-967G>C (n.-967G>C)
11g.119341618C>TCA382971419C1QTNF5,MFRPc.1670G>A (p.Gly557Asp)
c.1316G>A (p.Gly439Asp)
c.541G>A
c.-967G>A (n.-967G>A)
 gnomAD v4
11g.119341619C>ACA382971420C1QTNF5,MFRPc.1669G>T (p.Gly557Cys)
c.1315G>T (p.Gly439Cys)
c.540G>T
c.-968G>T (n.-968G>T)
11g.119341619C>GCA382971421C1QTNF5,MFRPc.1669G>C (p.Gly557Arg)
c.1315G>C (p.Gly439Arg)
c.540G>C
c.-968G>C (n.-968G>C)
11g.119341619C>TCA382971422C1QTNF5,MFRPc.1669G>A (p.Gly557Ser)
c.1315G>A (p.Gly439Ser)
c.540G>A
c.-968G>A (n.-968G>A)
11g.119341620C>ACA477155318C1QTNF5,MFRPc.1668G>T (p.Leu556=)
c.1314G>T (p.Leu438=)
c.539G>T
c.-969G>T (n.-969G>T)
11g.119341620C>GCA477155316C1QTNF5,MFRPc.1668G>C (p.Leu556=)
c.1314G>C (p.Leu438=)
c.539G>C
c.-969G>C (n.-969G>C)
11g.119341620C>TCA477155317C1QTNF5,MFRPc.1668G>A (p.Leu556=)
c.1314G>A (p.Leu438=)
c.539G>A
c.-969G>A (n.-969G>A)
 dbSNP gnomAD v4
11g.119341621A=CA2003917529C1QTNF5,MFRPc.1667T= (p.Leu556=)
c.1313T= (p.Leu438=)
c.538T=
c.-970T= (n.-970T=)
11g.119341621A>CCA382971423C1QTNF5,MFRPc.1667T>G (p.Leu556Arg)
c.1313T>G (p.Leu438Arg)
c.538T>G
c.-970T>G (n.-970T>G)
 dbSNP
11g.119341621A>GCA382971425C1QTNF5,MFRPc.1667T>C (p.Leu556Pro)
c.1313T>C (p.Leu438Pro)
c.538T>C
c.-970T>C (n.-970T>C)
11g.119341621A>TCA382971424C1QTNF5,MFRPc.1667T>A (p.Leu556Gln)
c.1313T>A (p.Leu438Gln)
c.538T>A
c.-970T>A (n.-970T>A)
11g.119341622G>ACA229675146C1QTNF5,MFRPc.1666C>T (p.Leu556=)
c.1312C>T (p.Leu438=)
c.537C>T
c.-971C>T (n.-971C>T)
 ClinVar dbSNP gnomAD v4
11g.119341622G>CCA382971426C1QTNF5,MFRPc.1666C>G (p.Leu556Val)
c.1312C>G (p.Leu438Val)
c.537C>G
c.-971C>G (n.-971C>G)
11g.119341622G=CA2003917537C1QTNF5,MFRPc.1666C= (p.Leu556=)
c.1312C= (p.Leu438=)
c.537C=
c.-971C= (n.-971C=)
11g.119341622G>TCA382971427C1QTNF5,MFRPc.1666C>A (p.Leu556Met)
c.1312C>A (p.Leu438Met)
c.537C>A
c.-971C>A (n.-971C>A)
11g.119341623T>ACA477155319C1QTNF5,MFRPc.1665A>T (p.Leu555=)
c.1311A>T (p.Leu437=)
c.536A>T
c.-972A>T (n.-972A>T)
11g.119341623T>CCA477155320C1QTNF5,MFRPc.1665A>G (p.Leu555=)
c.1311A>G (p.Leu437=)
c.536A>G
c.-972A>G (n.-972A>G)
 gnomAD v4
11g.119341623T>GCA477155321C1QTNF5,MFRPc.1665A>C (p.Leu555=)
c.1311A>C (p.Leu437=)
c.536A>C
c.-972A>C (n.-972A>C)
11g.119341623dupCA6320040C1QTNF5,MFRPc.1665dup (p.Leu556ThrfsTer17)
c.1311dup (p.Leu438ThrfsTer17)
c.536dup
c.-972dup (n.-972dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341624A>CCA382971428C1QTNF5,MFRPc.1664T>G (p.Leu555Arg)
c.1310T>G (p.Leu437Arg)
c.535T>G
c.-973T>G (n.-973T>G)
11g.119341624A>GCA382971429C1QTNF5,MFRPc.1664T>C (p.Leu555Pro)
c.1310T>C (p.Leu437Pro)
c.535T>C
c.-973T>C (n.-973T>C)
11g.119341624A>TCA382971430C1QTNF5,MFRPc.1664T>A (p.Leu555Gln)
c.1310T>A (p.Leu437Gln)
c.535T>A
c.-973T>A (n.-973T>A)
11g.119341625G>ACA477155322C1QTNF5,MFRPc.1663C>T (p.Leu555=)
c.1309C>T (p.Leu437=)
c.534C>T
c.-974C>T (n.-974C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.119341625G>CCA382971431C1QTNF5,MFRPc.1663C>G (p.Leu555Val)
c.1309C>G (p.Leu437Val)
c.534C>G
c.-974C>G (n.-974C>G)
11g.119341625G=CA2003917546C1QTNF5,MFRPc.1663C= (p.Leu555=)
c.1309C= (p.Leu437=)
c.534C=
c.-974C= (n.-974C=)
11g.119341625G>TCA382971432C1QTNF5,MFRPc.1663C>A (p.Leu555Ile)
c.1309C>A (p.Leu437Ile)
c.534C>A
c.-974C>A (n.-974C>A)
11g.119341626T>ACA477155323C1QTNF5,MFRPc.1662A>T (p.Ala554=)
c.1308A>T (p.Ala436=)
c.533A>T
c.-975A>T (n.-975A>T)
11g.119341626T>CCA477155324C1QTNF5,MFRPc.1662A>G (p.Ala554=)
c.1308A>G (p.Ala436=)
c.533A>G
c.-975A>G (n.-975A>G)
11g.119341626T>GCA477155325C1QTNF5,MFRPc.1662A>C (p.Ala554=)
c.1308A>C (p.Ala436=)
c.533A>C
c.-975A>C (n.-975A>C)
11g.119341627G>ACA382971433C1QTNF5,MFRPc.1661C>T (p.Ala554Val)
c.1307C>T (p.Ala436Val)
c.532C>T
c.-976C>T (n.-976C>T)
 gnomAD v4
11g.119341627G>CCA382971434C1QTNF5,MFRPc.1661C>G (p.Ala554Gly)
c.1307C>G (p.Ala436Gly)
c.532C>G
c.-976C>G (n.-976C>G)
11g.119341627G>TCA382971435C1QTNF5,MFRPc.1661C>A (p.Ala554Glu)
c.1307C>A (p.Ala436Glu)
c.532C>A
c.-976C>A (n.-976C>A)
11g.119341627dupCA2616404413C1QTNF5,MFRPc.1661dup (p.Leu555ThrfsTer18)
c.1307dup (p.Leu437ThrfsTer18)
c.532dup
c.-976dup (n.-976dup)
 gnomAD v4
11g.119341628C>ACA382971438C1QTNF5,MFRPc.1660G>T (p.Ala554Ser)
c.1306G>T (p.Ala436Ser)
c.531G>T
c.-977G>T (n.-977G>T)
11g.119341628C>GCA382971436C1QTNF5,MFRPc.1660G>C (p.Ala554Pro)
c.1306G>C (p.Ala436Pro)
c.531G>C
c.-977G>C (n.-977G>C)
11g.119341628C>TCA382971437C1QTNF5,MFRPc.1660G>A (p.Ala554Thr)
c.1306G>A (p.Ala436Thr)
c.531G>A
c.-977G>A (n.-977G>A)
 gnomAD v4
11g.119341629C>ACA477155326C1QTNF5,MFRPc.1659G>T (p.Leu553=)
c.1305G>T (p.Leu435=)
c.530G>T
c.-978G>T (n.-978G>T)
11g.119341629C>GCA477155327C1QTNF5,MFRPc.1659G>C (p.Leu553=)
c.1305G>C (p.Leu435=)
c.530G>C
c.-978G>C (n.-978G>C)
11g.119341629C>TCA477155328C1QTNF5,MFRPc.1659G>A (p.Leu553=)
c.1305G>A (p.Leu435=)
c.530G>A
c.-978G>A (n.-978G>A)
11g.119341630A=CA2003917550C1QTNF5,MFRPc.1658T= (p.Leu553=)
c.1304T= (p.Leu435=)
c.529T=
c.-979T= (n.-979T=)
11g.119341630A>CCA382971439C1QTNF5,MFRPc.1658T>G (p.Leu553Arg)
c.1304T>G (p.Leu435Arg)
c.529T>G
c.-979T>G (n.-979T>G)
11g.119341630A>GCA382971440C1QTNF5,MFRPc.1658T>C (p.Leu553Pro)
c.1304T>C (p.Leu435Pro)
c.529T>C
c.-979T>C (n.-979T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.119341630A>TCA382971441C1QTNF5,MFRPc.1658T>A (p.Leu553Gln)
c.1304T>A (p.Leu435Gln)
c.529T>A
c.-979T>A (n.-979T>A)
11g.119341631G>ACA6320041C1QTNF5,MFRPc.1657C>T (p.Leu553=)
c.1303C>T (p.Leu435=)
c.528C>T
c.-980C>T (n.-980C>T)
 dbSNP ExAC gnomAD v4
11g.119341631G>CCA382971442C1QTNF5,MFRPc.1657C>G (p.Leu553Val)
c.1303C>G (p.Leu435Val)
c.528C>G
c.-980C>G (n.-980C>G)
11g.119341631G=CA2003917556C1QTNF5,MFRPc.1657C= (p.Leu553=)
c.1303C= (p.Leu435=)
c.528C=
c.-980C= (n.-980C=)
11g.119341631G>TCA382971443C1QTNF5,MFRPc.1657C>A (p.Leu553Met)
c.1303C>A (p.Leu435Met)
c.528C>A
c.-980C>A (n.-980C>A)
11g.119341632G>ACA477155329C1QTNF5,MFRPc.1656C>T (p.Gly552=)
c.1302C>T (p.Gly434=)
c.527C>T
c.-981C>T (n.-981C>T)
 gnomAD v4
11g.119341632G>CCA477155331C1QTNF5,MFRPc.1656C>G (p.Gly552=)
c.1302C>G (p.Gly434=)
c.527C>G
c.-981C>G (n.-981C>G)
11g.119341632G>TCA477155330C1QTNF5,MFRPc.1656C>A (p.Gly552=)
c.1302C>A (p.Gly434=)
c.527C>A
c.-981C>A (n.-981C>A)
11g.119341633C>ACA382971446C1QTNF5,MFRPc.1655G>T (p.Gly552Val)
c.1301G>T (p.Gly434Val)
c.526G>T
c.-982G>T (n.-982G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.119341633C=CA2003917564C1QTNF5,MFRPc.1655G= (p.Gly552=)
c.1301G= (p.Gly434=)
c.526G=
c.-982G= (n.-982G=)
11g.119341633C>GCA382971445C1QTNF5,MFRPc.1655G>C (p.Gly552Ala)
c.1301G>C (p.Gly434Ala)
c.526G>C
c.-982G>C (n.-982G>C)
11g.119341633C>TCA382971444C1QTNF5,MFRPc.1655G>A (p.Gly552Asp)
c.1301G>A (p.Gly434Asp)
c.526G>A
c.-982G>A (n.-982G>A)
11g.119341634C>ACA382971447C1QTNF5,MFRPc.1654G>T (p.Gly552Cys)
c.1300G>T (p.Gly434Cys)
c.525G>T
c.-983G>T (n.-983G>T)
11g.119341634C=CA2003917569C1QTNF5,MFRPc.1654G= (p.Gly552=)
c.1300G= (p.Gly434=)
c.525G=
c.-983G= (n.-983G=)
11g.119341634C>GCA382971448C1QTNF5,MFRPc.1654G>C (p.Gly552Arg)
c.1300G>C (p.Gly434Arg)
c.525G>C
c.-983G>C (n.-983G>C)
11g.119341634C>TCA382971449C1QTNF5,MFRPc.1654G>A (p.Gly552Ser)
c.1300G>A (p.Gly434Ser)
c.525G>A
c.-983G>A (n.-983G>A)
 dbSNP
11g.119341635A=CA2003917573C1QTNF5,MFRPc.1653T= (p.Ser551=)
c.1299T= (p.Ser433=)
c.524T=
c.-984T= (n.-984T=)
11g.119341635A>CCA477155332C1QTNF5,MFRPc.1653T>G (p.Ser551=)
c.1299T>G (p.Ser433=)
c.524T>G
c.-984T>G (n.-984T>G)
11g.119341635A>GCA477155333C1QTNF5,MFRPc.1653T>C (p.Ser551=)
c.1299T>C (p.Ser433=)
c.524T>C
c.-984T>C (n.-984T>C)
 dbSNP gnomAD v4
11g.119341635A>TCA477155334C1QTNF5,MFRPc.1653T>A (p.Ser551=)
c.1299T>A (p.Ser433=)
c.524T>A
c.-984T>A (n.-984T>A)
11g.119341636G>ACA382971450C1QTNF5,MFRPc.1652C>T (p.Ser551Phe)
c.1298C>T (p.Ser433Phe)
c.523C>T
c.-985C>T (n.-985C>T)
11g.119341636G>CCA382971451C1QTNF5,MFRPc.1652C>G (p.Ser551Cys)
c.1298C>G (p.Ser433Cys)
c.523C>G
c.-985C>G (n.-985C>G)
11g.119341636G>TCA382971452C1QTNF5,MFRPc.1652C>A (p.Ser551Tyr)
c.1298C>A (p.Ser433Tyr)
c.523C>A
c.-985C>A (n.-985C>A)
11g.119341637A=CA2003917575C1QTNF5,MFRPc.1651T= (p.Ser551=)
c.1297T= (p.Ser433=)
c.522T=
c.-986T= (n.-986T=)
11g.119341637A>CCA382971453C1QTNF5,MFRPc.1651T>G (p.Ser551Ala)
c.1297T>G (p.Ser433Ala)
c.522T>G
c.-986T>G (n.-986T>G)
11g.119341637A>GCA6320042C1QTNF5,MFRPc.1651T>C (p.Ser551Pro)
c.1297T>C (p.Ser433Pro)
c.522T>C
c.-986T>C (n.-986T>C)
 dbSNP ExAC gnomAD v2
11g.119341637A>TCA382971454C1QTNF5,MFRPc.1651T>A (p.Ser551Thr)
c.1297T>A (p.Ser433Thr)
c.522T>A
c.-986T>A (n.-986T>A)
11g.119341637_119341638delCA2616404445C1QTNF5,MFRPc.1650_1651del (p.Gln550HisfsTer22)
c.1296_1297del (p.Gln432HisfsTer22)
c.521_522del
c.-987_-986del (n.-987_-986del)
 gnomAD v4
11g.119341638C>ACA382971455C1QTNF5,MFRPc.1650G>T (p.Gln550His)
c.1296G>T (p.Gln432His)
c.521G>T
c.-987G>T (n.-987G>T)
11g.119341638C>GCA382971456C1QTNF5,MFRPc.1650G>C (p.Gln550His)
c.1296G>C (p.Gln432His)
c.521G>C
c.-987G>C (n.-987G>C)
11g.119341638C>TCA477155338C1QTNF5,MFRPc.1650G>A (p.Gln550=)
c.1296G>A (p.Gln432=)
c.521G>A
c.-987G>A (n.-987G>A)
11g.119341639T>ACA382971457C1QTNF5,MFRPc.1649A>T (p.Gln550Leu)
c.1295A>T (p.Gln432Leu)
c.520A>T
c.-988A>T (n.-988A>T)
11g.119341639T>CCA382971458C1QTNF5,MFRPc.1649A>G (p.Gln550Arg)
c.1295A>G (p.Gln432Arg)
c.520A>G
c.-988A>G (n.-988A>G)
11g.119341639T>GCA382971459C1QTNF5,MFRPc.1649A>C (p.Gln550Pro)
c.1295A>C (p.Gln432Pro)
c.520A>C
c.-988A>C (n.-988A>C)
11g.119341640G>ACA382971460C1QTNF5,MFRPc.1648C>T (p.Gln550Ter)
c.1294C>T (p.Gln432Ter)
c.519C>T
c.-989C>T (n.-989C>T)
 dbSNP
11g.119341640G>CCA382971461C1QTNF5,MFRPc.1648C>G (p.Gln550Glu)
c.1294C>G (p.Gln432Glu)
c.519C>G
c.-989C>G (n.-989C>G)
11g.119341640G=CA2003917579C1QTNF5,MFRPc.1648C= (p.Gln550=)
c.1294C= (p.Gln432=)
c.519C=
c.-989C= (n.-989C=)
11g.119341640G>TCA382971462C1QTNF5,MFRPc.1648C>A (p.Gln550Lys)
c.1294C>A (p.Gln432Lys)
c.519C>A
c.-989C>A (n.-989C>A)
11g.119341641G>ACA6320043C1QTNF5,MFRPc.1647C>T (p.Cys549=)
c.1293C>T (p.Cys431=)
c.518C>T
c.-990C>T (n.-990C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341641G>CCA382971463C1QTNF5,MFRPc.1647C>G (p.Cys549Trp)
c.1293C>G (p.Cys431Trp)
c.518C>G
c.-990C>G (n.-990C>G)
 gnomAD v4
11g.119341641G=CA2003917585C1QTNF5,MFRPc.1647C= (p.Cys549=)
c.1293C= (p.Cys431=)
c.518C=
c.-990C= (n.-990C=)
11g.119341641G>TCA382971464C1QTNF5,MFRPc.1647C>A (p.Cys549Ter)
c.1293C>A (p.Cys431Ter)
c.518C>A
c.-990C>A (n.-990C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.119341642C>ACA6320044C1QTNF5,MFRPc.1646G>T (p.Cys549Phe)
c.1292G>T (p.Cys431Phe)
c.517G>T
c.-991G>T (n.-991G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341642C=CA2003917588C1QTNF5,MFRPc.1646G= (p.Cys549=)
c.1292G= (p.Cys431=)
c.517G=
c.-991G= (n.-991G=)
11g.119341642C>GCA382971465C1QTNF5,MFRPc.1646G>C (p.Cys549Ser)
c.1292G>C (p.Cys431Ser)
c.517G>C
c.-991G>C (n.-991G>C)
11g.119341642C>TCA382971466C1QTNF5,MFRPc.1646G>A (p.Cys549Tyr)
c.1292G>A (p.Cys431Tyr)
c.517G>A
c.-991G>A (n.-991G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.119341643A=CA2003917593C1QTNF5,MFRPc.1645T= (p.Cys549=)
c.1291T= (p.Cys431=)
c.516T=
c.-992T= (n.-992T=)
11g.119341643A>CCA382971467C1QTNF5,MFRPc.1645T>G (p.Cys549Gly)
c.1291T>G (p.Cys431Gly)
c.516T>G
c.-992T>G (n.-992T>G)
11g.119341643A>GCA382971469C1QTNF5,MFRPc.1645T>C (p.Cys549Arg)
c.1291T>C (p.Cys431Arg)
c.516T>C
c.-992T>C (n.-992T>C)
 dbSNP
11g.119341643A>TCA382971468C1QTNF5,MFRPc.1645T>A (p.Cys549Ser)
c.1291T>A (p.Cys431Ser)
c.516T>A
c.-992T>A (n.-992T>A)
11g.119341644C>ACA382971470C1QTNF5,MFRPc.1644G>T (p.Gln548His)
c.1290G>T (p.Gln430His)
c.515G>T
c.-993G>T (n.-993G>T)
11g.119341644C>GCA382971471C1QTNF5,MFRPc.1644G>C (p.Gln548His)
c.1290G>C (p.Gln430His)
c.515G>C
c.-993G>C (n.-993G>C)
11g.119341644C>TCA477155341C1QTNF5,MFRPc.1644G>A (p.Gln548=)
c.1290G>A (p.Gln430=)
c.515G>A
c.-993G>A (n.-993G>A)
11g.119341644_119341645delCA2616404459C1QTNF5,MFRPc.1643_1644del (p.Gln548LeufsTer24)
c.1289_1290del (p.Gln430LeufsTer24)
c.514_515del
c.-994_-993del (n.-994_-993del)
 gnomAD v4
11g.119341645T>ACA382971472C1QTNF5,MFRPc.1643A>T (p.Gln548Leu)
c.1289A>T (p.Gln430Leu)
c.514A>T
c.-994A>T (n.-994A>T)
11g.119341645T>CCA382971473C1QTNF5,MFRPc.1643A>G (p.Gln548Arg)
c.1289A>G (p.Gln430Arg)
c.514A>G
c.-994A>G (n.-994A>G)
11g.119341645T>GCA382971474C1QTNF5,MFRPc.1643A>C (p.Gln548Pro)
c.1289A>C (p.Gln430Pro)
c.514A>C
c.-994A>C (n.-994A>C)
11g.119341646G>ACA382971475C1QTNF5,MFRPc.1642C>T (p.Gln548Ter)
c.1288C>T (p.Gln430Ter)
c.513C>T
c.-995C>T (n.-995C>T)
 gnomAD v4
11g.119341646G>CCA382971476C1QTNF5,MFRPc.1642C>G (p.Gln548Glu)
c.1288C>G (p.Gln430Glu)
c.513C>G
c.-995C>G (n.-995C>G)
 dbSNP gnomAD v4
11g.119341646G>TCA382971477C1QTNF5,MFRPc.1642C>A (p.Gln548Lys)
c.1288C>A (p.Gln430Lys)
c.513C>A
c.-995C>A (n.-995C>A)
11g.119341647G>ACA477155342C1QTNF5,MFRPc.1641C>T (p.His547=)
c.1287C>T (p.His429=)
c.512C>T
c.-996C>T (n.-996C>T)
 gnomAD v4
11g.119341647G>CCA382971478C1QTNF5,MFRPc.1641C>G (p.His547Gln)
c.1287C>G (p.His429Gln)
c.512C>G
c.-996C>G (n.-996C>G)
 dbSNP gnomAD v3 gnomAD v4
11g.119341647G=CA2003917597C1QTNF5,MFRPc.1641C= (p.His547=)
c.1287C= (p.His429=)
c.512C=
c.-996C= (n.-996C=)
11g.119341647G>TCA382971479C1QTNF5,MFRPc.1641C>A (p.His547Gln)
c.1287C>A (p.His429Gln)
c.512C>A
c.-996C>A (n.-996C>A)
 ClinVar dbSNP gnomAD v4
11g.119341647_119341648insCCACCA2616404469C1QTNF5,MFRPc.1640_1641insGTGG (p.His547GlnfsTer27)
c.1286_1287insGTGG (p.His429GlnfsTer27)
c.511_512insGTGG
c.-997_-996insGTGG (n.-997_-996insGTGG)
 gnomAD v4
11g.119341648T>ACA382971482C1QTNF5,MFRPc.1640A>T (p.His547Leu)
c.1286A>T (p.His429Leu)
c.511A>T
c.-997A>T (n.-997A>T)
11g.119341648T>CCA382971481C1QTNF5,MFRPc.1640A>G (p.His547Arg)
c.1286A>G (p.His429Arg)
c.511A>G
c.-997A>G (n.-997A>G)
 ClinVar dbSNP gnomAD v4
11g.119341648T>GCA382971480C1QTNF5,MFRPc.1640A>C (p.His547Pro)
c.1286A>C (p.His429Pro)
c.511A>C
c.-997A>C (n.-997A>C)
 gnomAD v4
11g.119341648T=CA2003917603C1QTNF5,MFRPc.1640A= (p.His547=)
c.1286A= (p.His429=)
c.511A=
c.-997A= (n.-997A=)
11g.119341649G>ACA6320045C1QTNF5,MFRPc.1639C>T (p.His547Tyr)
c.1285C>T (p.His429Tyr)
c.510C>T
c.-998C>T (n.-998C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341649G>CCA382971483C1QTNF5,MFRPc.1639C>G (p.His547Asp)
c.1285C>G (p.His429Asp)
c.510C>G
c.-998C>G (n.-998C>G)
11g.119341649G=CA2003917605C1QTNF5,MFRPc.1639C= (p.His547=)
c.1285C= (p.His429=)
c.510C=
c.-998C= (n.-998C=)
11g.119341649G>TCA382971484C1QTNF5,MFRPc.1639C>A (p.His547Asn)
c.1285C>A (p.His429Asn)
c.510C>A
c.-998C>A (n.-998C>A)
11g.119341650C>ACA382971485C1QTNF5,MFRPc.1638G>T (p.Glu546Asp)
c.1284G>T (p.Glu428Asp)
c.509G>T
c.-999G>T (n.-999G>T)
11g.119341650C>GCA382971486C1QTNF5,MFRPc.1638G>C (p.Glu546Asp)
c.1284G>C (p.Glu428Asp)
c.509G>C
c.-999G>C (n.-999G>C)
11g.119341650C>TCA477155344C1QTNF5,MFRPc.1638G>A (p.Glu546=)
c.1284G>A (p.Glu428=)
c.509G>A
c.-999G>A (n.-999G>A)
11g.119341650_119341651insCAGCA2616404477C1QTNF5,MFRPc.1637_1638insCTG (p.Glu546delinsAspTrp)
c.1283_1284insCTG (p.Glu428delinsAspTrp)
c.508_509insCTG
c.-1000_-999insCTG (n.-1000_-999insCTG)
 gnomAD v4
11g.119341651T>ACA382971487C1QTNF5,MFRPc.1637A>T (p.Glu546Val)
c.1283A>T (p.Glu428Val)
c.508A>T
c.-1000A>T (n.-1000A>T)
11g.119341651T>CCA382971488C1QTNF5,MFRPc.1637A>G (p.Glu546Gly)
c.1283A>G (p.Glu428Gly)
c.508A>G
c.-1000A>G (n.-1000A>G)
 gnomAD v4
11g.119341651T>GCA6320046C1QTNF5,MFRPc.1637A>C (p.Glu546Ala)
c.1283A>C (p.Glu428Ala)
c.508A>C
c.-1000A>C (n.-1000A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.119341651T=CA2003917610C1QTNF5,MFRPc.1637A= (p.Glu546=)
c.1283A= (p.Glu428=)
c.508A=
c.-1000A= (n.-1000A=)
11g.119341652C>ACA382971489C1QTNF5,MFRPc.1636G>T (p.Glu546Ter)
c.1282G>T (p.Glu428Ter)
c.507G>T
c.-1001G>T (n.-1001G>T)
11g.119341652C>GCA382971490C1QTNF5,MFRPc.1636G>C (p.Glu546Gln)
c.1282G>C (p.Glu428Gln)
c.507G>C
c.-1001G>C (n.-1001G>C)
11g.119341652C>TCA382971491C1QTNF5,MFRPc.1636G>A (p.Glu546Lys)
c.1282G>A (p.Glu428Lys)
c.507G>A
c.-1001G>A (n.-1001G>A)
11g.119341653C>ACA229675155C1QTNF5,MFRPc.1635G>T (p.Ala545=)
c.1281G>T (p.Ala427=)
c.506G>T
c.-1002G>T (n.-1002G>T)
 ClinVar dbSNP gnomAD v4
11g.119341653C=CA2003917617C1QTNF5,MFRPc.1635G= (p.Ala545=)
c.1281G= (p.Ala427=)
c.506G=
c.-1002G= (n.-1002G=)
11g.119341653C>GCA477155346C1QTNF5,MFRPc.1635G>C (p.Ala545=)
c.1281G>C (p.Ala427=)
c.506G>C
c.-1002G>C (n.-1002G>C)
11g.119341653C>TCA017110C1QTNF5,MFRPc.1635G>A (p.Ala545=)
c.1281G>A (p.Ala427=)
c.506G>A
c.-1002G>A (n.-1002G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341654G>ACA6320047C1QTNF5,MFRPc.1634C>T (p.Ala545Val)
c.1280C>T (p.Ala427Val)
c.505C>T
c.-1003C>T (n.-1003C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341654G>CCA6320048C1QTNF5,MFRPc.1634C>G (p.Ala545Gly)
c.1280C>G (p.Ala427Gly)
c.505C>G
c.-1003C>G (n.-1003C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341654G=CA2003917624C1QTNF5,MFRPc.1634C= (p.Ala545=)
c.1280C= (p.Ala427=)
c.505C=
c.-1003C= (n.-1003C=)
11g.119341654G>TCA382971492C1QTNF5,MFRPc.1634C>A (p.Ala545Glu)
c.1280C>A (p.Ala427Glu)
c.505C>A
c.-1003C>A (n.-1003C>A)
11g.119341655C>ACA229675158C1QTNF5,MFRPc.1633G>T (p.Ala545Ser)
c.1279G>T (p.Ala427Ser)
c.504G>T
c.-1004G>T (n.-1004G>T)
 dbSNP gnomAD v4
11g.119341655C=CA2003917633C1QTNF5,MFRPc.1633G= (p.Ala545=)
c.1279G= (p.Ala427=)
c.504G=
c.-1004G= (n.-1004G=)
11g.119341655C>GCA382971493C1QTNF5,MFRPc.1633G>C (p.Ala545Pro)
c.1279G>C (p.Ala427Pro)
c.504G>C
c.-1004G>C (n.-1004G>C)
11g.119341655C>TCA382971494C1QTNF5,MFRPc.1633G>A (p.Ala545Thr)
c.1279G>A (p.Ala427Thr)
c.504G>A
c.-1004G>A (n.-1004G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.119341656T>ACA382971495C1QTNF5,MFRPc.1632A>T (p.Glu544Asp)
c.1278A>T (p.Glu426Asp)
c.503A>T
c.-1005A>T (n.-1005A>T)
11g.119341656T>CCA477155349C1QTNF5,MFRPc.1632A>G (p.Glu544=)
c.1278A>G (p.Glu426=)
c.503A>G
c.-1005A>G (n.-1005A>G)
11g.119341656T>GCA382971496C1QTNF5,MFRPc.1632A>C (p.Glu544Asp)
c.1278A>C (p.Glu426Asp)
c.503A>C
c.-1005A>C (n.-1005A>C)
11g.119341657T>ACA382971497C1QTNF5,MFRPc.1631A>T (p.Glu544Val)
c.1277A>T (p.Glu426Val)
c.502A>T
c.-1006A>T (n.-1006A>T)
11g.119341657T>CCA382971498C1QTNF5,MFRPc.1631A>G (p.Glu544Gly)
c.1277A>G (p.Glu426Gly)
c.502A>G
c.-1006A>G (n.-1006A>G)
11g.119341657T>GCA6320049C1QTNF5,MFRPc.1631A>C (p.Glu544Ala)
c.1277A>C (p.Glu426Ala)
c.502A>C
c.-1006A>C (n.-1006A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341657T=CA2003917637C1QTNF5,MFRPc.1631A= (p.Glu544=)
c.1277A= (p.Glu426=)
c.502A=
c.-1006A= (n.-1006A=)
11g.119341658C>ACA382971499C1QTNF5,MFRPc.1630G>T (p.Glu544Ter)
c.1276G>T (p.Glu426Ter)
c.501G>T
c.-1007G>T (n.-1007G>T)
11g.119341658C>GCA382971500C1QTNF5,MFRPc.1630G>C (p.Glu544Gln)
c.1276G>C (p.Glu426Gln)
c.501G>C
c.-1007G>C (n.-1007G>C)
11g.119341658C>TCA382971501C1QTNF5,MFRPc.1630G>A (p.Glu544Lys)
c.1276G>A (p.Glu426Lys)
c.501G>A
c.-1007G>A (n.-1007G>A)
11g.119341659C>ACA382971502C1QTNF5,MFRPc.1629G>T (p.Gln543His)
c.1275G>T (p.Gln425His)
c.500G>T
c.-1008G>T (n.-1008G>T)
11g.119341659C=CA2003917646C1QTNF5,MFRPc.1629G= (p.Gln543=)
c.1275G= (p.Gln425=)
c.500G=
c.-1008G= (n.-1008G=)
11g.119341659C>GCA382971503C1QTNF5,MFRPc.1629G>C (p.Gln543His)
c.1275G>C (p.Gln425His)
c.500G>C
c.-1008G>C (n.-1008G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.119341659C>TCA477155354C1QTNF5,MFRPc.1629G>A (p.Gln543=)
c.1275G>A (p.Gln425=)
c.500G>A
c.-1008G>A (n.-1008G>A)
 COSMIC
11g.119341660T>ACA382971506C1QTNF5,MFRPc.1628A>T (p.Gln543Leu)
c.1274A>T (p.Gln425Leu)
c.499A>T
c.-1009A>T (n.-1009A>T)
11g.119341660T>CCA382971505C1QTNF5,MFRPc.1628A>G (p.Gln543Arg)
c.1274A>G (p.Gln425Arg)
c.499A>G
c.-1009A>G (n.-1009A>G)
11g.119341660T>GCA382971504C1QTNF5,MFRPc.1628A>C (p.Gln543Pro)
c.1274A>C (p.Gln425Pro)
c.499A>C
c.-1009A>C (n.-1009A>C)
11g.119341661G>ACA382971507C1QTNF5,MFRPc.1627C>T (p.Gln543Ter)
c.1273C>T (p.Gln425Ter)
c.498C>T
c.-1010C>T (n.-1010C>T)
11g.119341661G>CCA382971508C1QTNF5,MFRPc.1627C>G (p.Gln543Glu)
c.1273C>G (p.Gln425Glu)
c.498C>G
c.-1010C>G (n.-1010C>G)
11g.119341661G>TCA382971509C1QTNF5,MFRPc.1627C>A (p.Gln543Lys)
c.1273C>A (p.Gln425Lys)
c.498C>A
c.-1010C>A (n.-1010C>A)
11g.119341662G>ACA6320050C1QTNF5,MFRPc.1626C>T (p.Cys542=)
c.1272C>T (p.Cys424=)
c.497C>T
c.-1011C>T (n.-1011C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.119341662G>CCA382971510C1QTNF5,MFRPc.1626C>G (p.Cys542Trp)
c.1272C>G (p.Cys424Trp)
c.497C>G
c.-1011C>G (n.-1011C>G)
11g.119341662G=CA2003917652C1QTNF5,MFRPc.1626C= (p.Cys542=)
c.1272C= (p.Cys424=)
c.497C=
c.-1011C= (n.-1011C=)
11g.119341662G>TCA382971511C1QTNF5,MFRPc.1626C>A (p.Cys542Ter)
c.1272C>A (p.Cys424Ter)
c.497C>A
c.-1011C>A (n.-1011C>A)
11g.119341662_119341666delinsGCAGACA2003917650C1QTNF5,MFRPc.1622_1626delinsTCTGC (p.Val541=)
c.1268_1272delinsTCTGC (p.Val423=)
c.493_497delinsTCTGC
c.-1015_-1011delinsTCTGC (n.-1015_-1011delinsTCTGC)
11g.119341663C>ACA6320051C1QTNF5,MFRPc.1625G>T (p.Cys542Phe)
c.1271G>T (p.Cys424Phe)
c.496G>T
c.-1012G>T (n.-1012G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.119341663C=CA2003917665C1QTNF5,MFRPc.1625G= (p.Cys542=)
c.1271G= (p.Cys424=)
c.496G=
c.-1012G= (n.-1012G=)
11g.119341663C>GCA382971512C1QTNF5,MFRPc.1625G>C (p.Cys542Ser)
c.1271G>C (p.Cys424Ser)
c.496G>C
c.-1012G>C (n.-1012G>C)
11g.119341663C>TCA382971513C1QTNF5,MFRPc.1625G>A (p.Cys542Tyr)
c.1271G>A (p.Cys424Tyr)
c.496G>A
c.-1012G>A (n.-1012G>A)
 COSMIC
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.119341664A>CCA382971514C1QTNF5,MFRPc.1624T>G (p.Cys542Gly)
c.1270T>G (p.Cys424Gly)
c.495T>G
c.-1013T>G (n.-1013T>G)
11g.119341664A>GCA382971515C1QTNF5,MFRPc.1624T>C (p.Cys542Arg)
c.1270T>C (p.Cys424Arg)
c.495T>C
c.-1013T>C (n.-1013T>C)
11g.119341664A>TCA382971516C1QTNF5,MFRPc.1624T>A (p.Cys542Ser)
c.1270T>A (p.Cys424Ser)
c.495T>A
c.-1013T>A (n.-1013T>A)
11g.119341665G>ACA477155358C1QTNF5,MFRPc.1623C>T (p.Val541=)
c.1269C>T (p.Val423=)
c.494C>T
c.-1014C>T (n.-1014C>T)
11g.119341665G>CCA477155359C1QTNF5,MFRPc.1623C>G (p.Val541=)
c.1269C>G (p.Val423=)
c.494C>G
c.-1014C>G (n.-1014C>G)
11g.119341665G>TCA477155360C1QTNF5,MFRPc.1623C>A (p.Val541=)
c.1269C>A (p.Val423=)
c.494C>A
c.-1014C>A (n.-1014C>A)
11g.119341666A=CA2003917671C1QTNF5,MFRPc.1622T= (p.Val541=)
c.1268T= (p.Val423=)
c.493T=
c.-1015T= (n.-1015T=)
11g.119341666A>CCA382971518C1QTNF5,MFRPc.1622T>G (p.Val541Gly)
c.1268T>G (p.Val423Gly)
c.493T>G
c.-1015T>G (n.-1015T>G)
11g.119341666A>GCA382971519C1QTNF5,MFRPc.1622T>C (p.Val541Ala)
c.1268T>C (p.Val423Ala)
c.493T>C
c.-1015T>C (n.-1015T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.119341666A>TCA382971517C1QTNF5,MFRPc.1622T>A (p.Val541Asp)
c.1268T>A (p.Val423Asp)
c.493T>A
c.-1015T>A (n.-1015T>A)
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

Number of alleles fetched