| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.119339342C>A | CA382967667 | C1QTNF5,MFRP | c.721G>T (p.Val241Phe) c.*1617G>T (n.*1617G>T) | |
| 11 | g.119339342C= | CA2003913099 | C1QTNF5,MFRP | c.721G= (p.Val241=) c.*1617G= (n.*1617G=) | |
| 11 | g.119339342C>G | CA382967668 | C1QTNF5,MFRP | c.721G>C (p.Val241Leu) c.*1617G>C (n.*1617G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.119339342C>T | CA382967669 | C1QTNF5,MFRP | c.721G>A (p.Val241Ile) c.*1617G>A (n.*1617G>A) | |
| 11 | g.119339343T>A | CA477377287 | C1QTNF5,MFRP | c.720A>T (p.Pro240=) c.*1616A>T (n.*1616A>T) | |
| 11 | g.119339343T>C | CA477377288 | C1QTNF5,MFRP | c.720A>G (p.Pro240=) c.*1616A>G (n.*1616A>G) | |
| 11 | g.119339343T>G | CA477377289 | C1QTNF5,MFRP | c.720A>C (p.Pro240=) c.*1616A>C (n.*1616A>C) | |
| 11 | g.119339344G>A | CA382967671 | C1QTNF5,MFRP | c.719C>T (p.Pro240Leu) c.*1615C>T (n.*1615C>T) | dbSNP |
| 11 | g.119339344G>C | CA382967673 | C1QTNF5,MFRP | c.719C>G (p.Pro240Arg) c.*1615C>G (n.*1615C>G) | |
| 11 | g.119339344G= | CA2003913102 | C1QTNF5,MFRP | c.719C= (p.Pro240=) c.*1615C= (n.*1615C=) | |
| 11 | g.119339344G>T | CA382967675 | C1QTNF5,MFRP | c.719C>A (p.Pro240Gln) c.*1615C>A (n.*1615C>A) | |
| 11 | g.119339347dup | CA2616397276 | C1QTNF5,MFRP | c.719dup (p.Val241SerfsTer10) c.*1615dup (n.*1615dup) | gnomAD v4 |
| 11 | g.119339347del | CA2616397277 | C1QTNF5,MFRP | c.719del (p.Pro240GlnfsTer17) c.*1615del (n.*1615del) | gnomAD v4 |
| 11 | g.119339345G>A | CA382967677 | C1QTNF5,MFRP | c.718C>T (p.Pro240Ser) c.*1614C>T (n.*1614C>T) | |
| 11 | g.119339345G>C | CA382967680 | C1QTNF5,MFRP | c.718C>G (p.Pro240Ala) c.*1614C>G (n.*1614C>G) | |
| 11 | g.119339345G>T | CA382967683 | C1QTNF5,MFRP | c.718C>A (p.Pro240Thr) c.*1614C>A (n.*1614C>A) | |
| 11 | g.119339346G>A | CA477377293 | C1QTNF5,MFRP | c.717C>T (p.Ser239=) c.*1613C>T (n.*1613C>T) | |
| 11 | g.119339346G>C | CA477377294 | C1QTNF5,MFRP | c.717C>G (p.Ser239=) c.*1613C>G (n.*1613C>G) | |
| 11 | g.119339346G= | CA2003913103 | C1QTNF5,MFRP | c.717C= (p.Ser239=) c.*1613C= (n.*1613C=) | |
| 11 | g.119339346G>T | CA6319896 | C1QTNF5,MFRP | c.717C>A (p.Ser239=) c.*1613C>A (n.*1613C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339347G>A | CA382967687 | C1QTNF5,MFRP | c.716C>T (p.Ser239Phe) c.*1612C>T (n.*1612C>T) | |
| 11 | g.119339347G>C | CA382967692 | C1QTNF5,MFRP | c.716C>G (p.Ser239Cys) c.*1612C>G (n.*1612C>G) | gnomAD v4 |
| 11 | g.119339347G>T | CA382967694 | C1QTNF5,MFRP | c.716C>A (p.Ser239Tyr) c.*1612C>A (n.*1612C>A) | |
| 11 | g.119339348A= | CA2003913107 | C1QTNF5,MFRP | c.715T= (p.Ser239=) c.*1611T= (n.*1611T=) | |
| 11 | g.119339348A>C | CA382967697 | C1QTNF5,MFRP | c.715T>G (p.Ser239Ala) c.*1611T>G (n.*1611T>G) | dbSNP gnomAD v4 |
| 11 | g.119339348A>G | CA382967704 | C1QTNF5,MFRP | c.715T>C (p.Ser239Pro) c.*1611T>C (n.*1611T>C) | |
| 11 | g.119339348A>T | CA382967700 | C1QTNF5,MFRP | c.715T>A (p.Ser239Thr) c.*1611T>A (n.*1611T>A) | gnomAD v4 |
| 11 | g.119339349G>A | CA229673447 | C1QTNF5,MFRP | c.714C>T (p.Ser238=) c.*1610C>T (n.*1610C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.119339349G>C | CA382967707 | C1QTNF5,MFRP | c.714C>G (p.Ser238Arg) c.*1610C>G (n.*1610C>G) | gnomAD v4 |
| 11 | g.119339349G= | CA2003913112 | C1QTNF5,MFRP | c.714C= (p.Ser238=) c.*1610C= (n.*1610C=) | |
| 11 | g.119339349G>T | CA382967710 | C1QTNF5,MFRP | c.714C>A (p.Ser238Arg) c.*1610C>A (n.*1610C>A) | |
| 11 | g.119339350C>A | CA382967713 | C1QTNF5,MFRP | c.713G>T (p.Ser238Ile) c.*1609G>T (n.*1609G>T) | |
| 11 | g.119339350C>G | CA382967716 | C1QTNF5,MFRP | c.713G>C (p.Ser238Thr) c.*1609G>C (n.*1609G>C) | |
| 11 | g.119339350C>T | CA382967719 | C1QTNF5,MFRP | c.713G>A (p.Ser238Asn) c.*1609G>A (n.*1609G>A) | |
| 11 | g.119339351T>A | CA382967722 | C1QTNF5,MFRP | c.712A>T (p.Ser238Cys) c.*1608A>T (n.*1608A>T) | |
| 11 | g.119339351T>C | CA382967725 | C1QTNF5,MFRP | c.712A>G (p.Ser238Gly) c.*1608A>G (n.*1608A>G) | |
| 11 | g.119339351T>G | CA382967729 | C1QTNF5,MFRP | c.712A>C (p.Ser238Arg) c.*1608A>C (n.*1608A>C) | |
| 11 | g.119339352G>A | CA229673450 | C1QTNF5,MFRP | c.711C>T (p.His237=) c.*1607C>T (n.*1607C>T) | ClinVar dbSNP |
| 11 | g.119339352G>C | CA382967734 | C1QTNF5,MFRP | c.711C>G (p.His237Gln) c.*1607C>G (n.*1607C>G) | |
| 11 | g.119339352G= | CA2003913117 | C1QTNF5,MFRP | c.711C= (p.His237=) c.*1607C= (n.*1607C=) | |
| 11 | g.119339352G>T | CA382967735 | C1QTNF5,MFRP | c.711C>A (p.His237Gln) c.*1607C>A (n.*1607C>A) | |
| 11 | g.119339353T>A | CA382967739 | C1QTNF5,MFRP | c.710A>T (p.His237Leu) c.*1606A>T (n.*1606A>T) | |
| 11 | g.119339353T>C | CA382967740 | C1QTNF5,MFRP | c.710A>G (p.His237Arg) c.*1606A>G (n.*1606A>G) | |
| 11 | g.119339353T>G | CA382967737 | C1QTNF5,MFRP | c.710A>C (p.His237Pro) c.*1606A>C (n.*1606A>C) | |
| 11 | g.119339354G>A | CA382967742 | C1QTNF5,MFRP | c.709C>T (p.His237Tyr) c.*1605C>T (n.*1605C>T) | |
| 11 | g.119339354G>C | CA382967744 | C1QTNF5,MFRP | c.709C>G (p.His237Asp) c.*1605C>G (n.*1605C>G) | |
| 11 | g.119339354G>T | CA382967746 | C1QTNF5,MFRP | c.709C>A (p.His237Asn) c.*1605C>A (n.*1605C>A) | |
| 11 | g.119339355C>A | CA382967748 | C1QTNF5,MFRP | c.708G>T (p.Trp236Cys) c.*1604G>T (n.*1604G>T) | gnomAD v4 |
| 11 | g.119339355C>G | CA382967751 | C1QTNF5,MFRP | c.708G>C (p.Trp236Cys) c.*1604G>C (n.*1604G>C) | |
| 11 | g.119339355C>T | CA382967753 | C1QTNF5,MFRP | c.708G>A (p.Trp236Ter) c.*1604G>A (n.*1604G>A) | gnomAD v4 |
| 11 | g.119339356C>A | CA382967758 | C1QTNF5,MFRP | c.707G>T (p.Trp236Leu) c.*1603G>T (n.*1603G>T) | |
| 11 | g.119339356C>G | CA382967755 | C1QTNF5,MFRP | c.707G>C (p.Trp236Ser) c.*1603G>C (n.*1603G>C) | |
| 11 | g.119339356C>T | CA382967756 | C1QTNF5,MFRP | c.707G>A (p.Trp236Ter) c.*1603G>A (n.*1603G>A) | |
| 11 | g.119339357A>C | CA382967760 | C1QTNF5,MFRP | c.706T>G (p.Trp236Gly) c.*1602T>G (n.*1602T>G) | |
| 11 | g.119339357A>G | CA382967763 | C1QTNF5,MFRP | c.706T>C (p.Trp236Arg) c.*1602T>C (n.*1602T>C) | |
| 11 | g.119339357A>T | CA382967768 | C1QTNF5,MFRP | c.706T>A (p.Trp236Arg) c.*1602T>A (n.*1602T>A) | |
| 11 | g.119339358G>A | CA477377300 | C1QTNF5,MFRP | c.705C>T (p.Asp235=) c.*1601C>T (n.*1601C>T) | |
| 11 | g.119339358G>C | CA382967771 | C1QTNF5,MFRP | c.705C>G (p.Asp235Glu) c.*1601C>G (n.*1601C>G) | |
| 11 | g.119339358G>T | CA382967774 | C1QTNF5,MFRP | c.705C>A (p.Asp235Glu) c.*1601C>A (n.*1601C>A) | |
| 11 | g.119339359T>A | CA382967775 | C1QTNF5,MFRP | c.704A>T (p.Asp235Val) c.*1600A>T (n.*1600A>T) | |
| 11 | g.119339359T>C | CA382967783 | C1QTNF5,MFRP | c.704A>G (p.Asp235Gly) c.*1600A>G (n.*1600A>G) | |
| 11 | g.119339359T>G | CA382967777 | C1QTNF5,MFRP | c.704A>C (p.Asp235Ala) c.*1600A>C (n.*1600A>C) | |
| 11 | g.119339360C>A | CA382967785 | C1QTNF5,MFRP | c.703G>T (p.Asp235Tyr) c.*1599G>T (n.*1599G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.119339360C= | CA2003913120 | C1QTNF5,MFRP | c.703G= (p.Asp235=) c.*1599G= (n.*1599G=) | |
| 11 | g.119339360C>G | CA382967786 | C1QTNF5,MFRP | c.703G>C (p.Asp235His) c.*1599G>C (n.*1599G>C) | dbSNP gnomAD v4 |
| 11 | g.119339360C>T | CA382967787 | C1QTNF5,MFRP | c.703G>A (p.Asp235Asn) c.*1599G>A (n.*1599G>A) | gnomAD v4 |
| 11 | g.119339361G>A | CA6319897 | C1QTNF5,MFRP | c.702C>T (p.Ser234=) c.*1598C>T (n.*1598C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339361G>C | CA477377301 | C1QTNF5,MFRP | c.702C>G (p.Ser234=) c.*1598C>G (n.*1598C>G) | COSMIC |
| 11 | g.119339361G= | CA2003913125 | C1QTNF5,MFRP | c.702C= (p.Ser234=) c.*1598C= (n.*1598C=) | |
| 11 | g.119339361G>T | CA477377302 | C1QTNF5,MFRP | c.702C>A (p.Ser234=) c.*1598C>A (n.*1598C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.119339362G>A | CA6319898 | C1QTNF5,MFRP | c.701C>T (p.Ser234Phe) c.*1597C>T (n.*1597C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339362G>C | CA382967793 | C1QTNF5,MFRP | c.701C>G (p.Ser234Cys) c.*1597C>G (n.*1597C>G) | dbSNP gnomAD v4 |
| 11 | g.119339362G= | CA2003913131 | C1QTNF5,MFRP | c.701C= (p.Ser234=) c.*1597C= (n.*1597C=) | |
| 11 | g.119339362G>T | CA382967794 | C1QTNF5,MFRP | c.701C>A (p.Ser234Tyr) c.*1597C>A (n.*1597C>A) | |
| 11 | g.119339363A>C | CA382967796 | C1QTNF5,MFRP | c.700T>G (p.Ser234Ala) c.*1596T>G (n.*1596T>G) | |
| 11 | g.119339363A>G | CA382967797 | C1QTNF5,MFRP | c.700T>C (p.Ser234Pro) c.*1596T>C (n.*1596T>C) | |
| 11 | g.119339363A>T | CA382967801 | C1QTNF5,MFRP | c.700T>A (p.Ser234Thr) c.*1596T>A (n.*1596T>A) | |
| 11 | g.119339364G>A | CA477377303 | C1QTNF5,MFRP | c.699C>T (p.Tyr233=) c.*1595C>T (n.*1595C>T) | gnomAD v4 |
| 11 | g.119339364G>C | CA382967804 | C1QTNF5,MFRP | c.699C>G (p.Tyr233Ter) c.*1595C>G (n.*1595C>G) | |
| 11 | g.119339364G>T | CA382967806 | C1QTNF5,MFRP | c.699C>A (p.Tyr233Ter) c.*1595C>A (n.*1595C>A) | |
| 11 | g.119339365T>A | CA382967812 | C1QTNF5,MFRP | c.698A>T (p.Tyr233Phe) c.*1594A>T (n.*1594A>T) | |
| 11 | g.119339365T>C | CA382967810 | C1QTNF5,MFRP | c.698A>G (p.Tyr233Cys) c.*1594A>G (n.*1594A>G) | gnomAD v4 |
| 11 | g.119339365T>G | CA382967808 | C1QTNF5,MFRP | c.698A>C (p.Tyr233Ser) c.*1594A>C (n.*1594A>C) | |
| 11 | g.119339366A>C | CA382967815 | C1QTNF5,MFRP | c.697T>G (p.Tyr233Asp) c.*1593T>G (n.*1593T>G) | |
| 11 | g.119339366A>G | CA382967820 | C1QTNF5,MFRP | c.697T>C (p.Tyr233His) c.*1593T>C (n.*1593T>C) | |
| 11 | g.119339366A>T | CA382967817 | C1QTNF5,MFRP | c.697T>A (p.Tyr233Asn) c.*1593T>A (n.*1593T>A) | |
| 11 | g.119339367C>A | CA477377304 | C1QTNF5,MFRP | c.696G>T (p.Val232=) c.*1592G>T (n.*1592G>T) | dbSNP gnomAD v4 |
| 11 | g.119339367C>G | CA477377305 | C1QTNF5,MFRP | c.696G>C (p.Val232=) c.*1592G>C (n.*1592G>C) | |
| 11 | g.119339367C>T | CA477377306 | C1QTNF5,MFRP | c.696G>A (p.Val232=) c.*1592G>A (n.*1592G>A) | |
| 11 | g.119339368A>C | CA382967821 | C1QTNF5,MFRP | c.695T>G (p.Val232Gly) c.*1591T>G (n.*1591T>G) | |
| 11 | g.119339368A>G | CA382967822 | C1QTNF5,MFRP | c.695T>C (p.Val232Ala) c.*1591T>C (n.*1591T>C) | |
| 11 | g.119339368A>T | CA382967824 | C1QTNF5,MFRP | c.695T>A (p.Val232Glu) c.*1591T>A (n.*1591T>A) | |
| 11 | g.119339369C>A | CA382967827 | C1QTNF5,MFRP | c.694G>T (p.Val232Leu) c.*1590G>T (n.*1590G>T) | |
| 11 | g.119339369C>G | CA382967829 | C1QTNF5,MFRP | c.694G>C (p.Val232Leu) c.*1590G>C (n.*1590G>C) | |
| 11 | g.119339369C>T | CA382967832 | C1QTNF5,MFRP | c.694G>A (p.Val232Met) c.*1590G>A (n.*1590G>A) | gnomAD v4 |
| 11 | g.119339370C>A | CA477377307 | C1QTNF5,MFRP | c.693G>T (p.Leu231=) c.*1589G>T (n.*1589G>T) n.583G>T | gnomAD v4 |
| 11 | g.119339370C>G | CA477377308 | C1QTNF5,MFRP | c.693G>C (p.Leu231=) c.*1589G>C (n.*1589G>C) n.583G>C | |
| 11 | g.119339370C>T | CA477377309 | C1QTNF5,MFRP | c.693G>A (p.Leu231=) c.*1589G>A (n.*1589G>A) n.583G>A | gnomAD v4 |
| 11 | g.119339371A>C | CA382967833 | C1QTNF5,MFRP | c.692T>G (p.Leu231Arg) c.*1588T>G (n.*1588T>G) n.582T>G | |
| 11 | g.119339371A>G | CA382967835 | C1QTNF5,MFRP | c.692T>C (p.Leu231Pro) c.*1588T>C (n.*1588T>C) n.582T>C | |
| 11 | g.119339371A>T | CA382967837 | C1QTNF5,MFRP | c.692T>A (p.Leu231Gln) c.*1588T>A (n.*1588T>A) n.582T>A | |
| 11 | g.119339372G>A | CA477377310 | C1QTNF5,MFRP | c.691C>T (p.Leu231=) c.*1587C>T (n.*1587C>T) n.581C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.119339372G>C | CA382967839 | C1QTNF5,MFRP | c.691C>G (p.Leu231Val) c.*1587C>G (n.*1587C>G) n.581C>G | |
| 11 | g.119339372G= | CA2003913137 | C1QTNF5,MFRP | c.691C= (p.Leu231=) c.*1587C= (n.*1587C=) n.581C= | |
| 11 | g.119339372G>T | CA382967840 | C1QTNF5,MFRP | c.691C>A (p.Leu231Met) c.*1587C>A (n.*1587C>A) n.581C>A | |
| 11 | g.119339373A>C | CA382967842 | C1QTNF5,MFRP | c.690T>G (p.Phe230Leu) c.*1586T>G (n.*1586T>G) n.580T>G | |
| 11 | g.119339373A>G | CA477377311 | C1QTNF5,MFRP | c.690T>C (p.Phe230=) c.*1586T>C (n.*1586T>C) n.580T>C | gnomAD v4 |
| 11 | g.119339373A>T | CA382967843 | C1QTNF5,MFRP | c.690T>A (p.Phe230Leu) c.*1586T>A (n.*1586T>A) n.580T>A | |
| 11 | g.119339374A>C | CA382967845 | C1QTNF5,MFRP | c.689T>G (p.Phe230Cys) c.*1585T>G (n.*1585T>G) n.579T>G | |
| 11 | g.119339374A>G | CA382967849 | C1QTNF5,MFRP | c.689T>C (p.Phe230Ser) c.*1585T>C (n.*1585T>C) n.579T>C | |
| 11 | g.119339374A>T | CA382967847 | C1QTNF5,MFRP | c.689T>A (p.Phe230Tyr) c.*1585T>A (n.*1585T>A) n.579T>A | |
| 11 | g.119339375A>C | CA382967852 | C1QTNF5,MFRP | c.688T>G (p.Phe230Val) c.*1584T>G (n.*1584T>G) n.578T>G | |
| 11 | g.119339375A>G | CA382967854 | C1QTNF5,MFRP | c.688T>C (p.Phe230Leu) c.*1584T>C (n.*1584T>C) n.578T>C | |
| 11 | g.119339375A>T | CA382967857 | C1QTNF5,MFRP | c.688T>A (p.Phe230Ile) c.*1584T>A (n.*1584T>A) n.578T>A | |
| 11 | g.119339376T>A | CA477377312 | C1QTNF5,MFRP | c.687A>T (p.Gly229=) c.*1583A>T (n.*1583A>T) n.577A>T | |
| 11 | g.119339376T>C | CA477377313 | C1QTNF5,MFRP | c.687A>G (p.Gly229=) c.*1583A>G (n.*1583A>G) n.577A>G | |
| 11 | g.119339376T>G | CA477377314 | C1QTNF5,MFRP | c.687A>C (p.Gly229=) c.*1583A>C (n.*1583A>C) n.577A>C | |
| 11 | g.119339377C>A | CA382967859 | C1QTNF5,MFRP | c.686G>T (p.Gly229Val) c.*1582G>T (n.*1582G>T) n.576G>T | |
| 11 | g.119339377C= | CA2003913141 | C1QTNF5,MFRP | c.686G= (p.Gly229=) c.*1582G= (n.*1582G=) n.576G= | |
| 11 | g.119339377C>G | CA6319899 | C1QTNF5,MFRP | c.686G>C (p.Gly229Ala) c.*1582G>C (n.*1582G>C) n.576G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339377C>T | CA382967862 | C1QTNF5,MFRP | c.686G>A (p.Gly229Glu) c.*1582G>A (n.*1582G>A) n.576G>A | |
| 11 | g.119339378C>A | CA382967864 | C1QTNF5,MFRP | c.685G>T (p.Gly229Ter) c.*1581G>T (n.*1581G>T) n.575G>T | |
| 11 | g.119339378C= | CA2003913142 | C1QTNF5,MFRP | c.685G= (p.Gly229=) c.*1581G= (n.*1581G=) n.575G= | |
| 11 | g.119339378C>G | CA382967866 | C1QTNF5,MFRP | c.685G>C (p.Gly229Arg) c.*1581G>C (n.*1581G>C) n.575G>C | dbSNP |
| 11 | g.119339378C>T | CA382967868 | C1QTNF5,MFRP | c.685G>A (p.Gly229Arg) c.*1581G>A (n.*1581G>A) n.575G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.119339379G>A | CA6319900 | C1QTNF5,MFRP | c.684C>T (p.Ser228=) c.*1580C>T (n.*1580C>T) n.574C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.119339379G>C | CA477377316 | C1QTNF5,MFRP | c.684C>G (p.Ser228=) c.*1580C>G (n.*1580C>G) n.574C>G | |
| 11 | g.119339379G= | CA2003913145 | C1QTNF5,MFRP | c.684C= (p.Ser228=) c.*1580C= (n.*1580C=) n.574C= | |
| 11 | g.119339379G>T | CA477377315 | C1QTNF5,MFRP | c.684C>A (p.Ser228=) c.*1580C>A (n.*1580C>A) n.574C>A | |
| 11 | g.119339380G>A | CA382967876 | C1QTNF5,MFRP | c.683C>T (p.Ser228Phe) c.*1579C>T (n.*1579C>T) n.573C>T | |
| 11 | g.119339380G>C | CA382967875 | C1QTNF5,MFRP | c.683C>G (p.Ser228Cys) c.*1579C>G (n.*1579C>G) n.573C>G | |
| 11 | g.119339380G>T | CA382967872 | C1QTNF5,MFRP | c.683C>A (p.Ser228Tyr) c.*1579C>A (n.*1579C>A) n.573C>A | |
| 11 | g.119339381A>C | CA382967879 | C1QTNF5,MFRP | c.682T>G (p.Ser228Ala) c.*1578T>G (n.*1578T>G) n.572T>G | |
| 11 | g.119339381A>G | CA382967882 | C1QTNF5,MFRP | c.682T>C (p.Ser228Pro) c.*1578T>C (n.*1578T>C) n.572T>C | |
| 11 | g.119339381A>T | CA382967883 | C1QTNF5,MFRP | c.682T>A (p.Ser228Thr) c.*1578T>A (n.*1578T>A) n.572T>A | |
| 11 | g.119339382G>A | CA477377318 | C1QTNF5,MFRP | c.681C>T (p.Phe227=) c.*1577C>T (n.*1577C>T) n.571C>T | |
| 11 | g.119339382G>C | CA382967885 | C1QTNF5,MFRP | c.681C>G (p.Phe227Leu) c.*1577C>G (n.*1577C>G) n.571C>G | |
| 11 | g.119339382G>T | CA382967888 | C1QTNF5,MFRP | c.681C>A (p.Phe227Leu) c.*1577C>A (n.*1577C>A) n.571C>A | |
| 11 | g.119339383A>C | CA382967894 | C1QTNF5,MFRP | c.680T>G (p.Phe227Cys) c.*1576T>G (n.*1576T>G) n.570T>G | |
| 11 | g.119339383A>G | CA382967892 | C1QTNF5,MFRP | c.680T>C (p.Phe227Ser) c.*1576T>C (n.*1576T>C) n.570T>C | |
| 11 | g.119339383A>T | CA382967891 | C1QTNF5,MFRP | c.680T>A (p.Phe227Tyr) c.*1576T>A (n.*1576T>A) n.570T>A | |
| 11 | g.119339384A>C | CA382967897 | C1QTNF5,MFRP | c.679T>G (p.Phe227Val) c.*1575T>G (n.*1575T>G) n.569T>G | |
| 11 | g.119339384A>G | CA382967900 | C1QTNF5,MFRP | c.679T>C (p.Phe227Leu) c.*1575T>C (n.*1575T>C) n.569T>C | |
| 11 | g.119339384A>T | CA382967902 | C1QTNF5,MFRP | c.679T>A (p.Phe227Ile) c.*1575T>A (n.*1575T>A) n.569T>A | |
| 11 | g.119339385G>A | CA477377321 | C1QTNF5,MFRP | c.678C>T (p.Thr226=) c.*1574C>T (n.*1574C>T) n.568C>T | gnomAD v4 |
| 11 | g.119339385G>C | CA477377322 | C1QTNF5,MFRP | c.678C>G (p.Thr226=) c.*1574C>G (n.*1574C>G) n.568C>G | |
| 11 | g.119339385G>T | CA477377323 | C1QTNF5,MFRP | c.678C>A (p.Thr226=) c.*1574C>A (n.*1574C>A) n.568C>A | |
| 11 | g.119339386G>A | CA229673467 | C1QTNF5,MFRP | c.677C>T (p.Thr226Ile) c.*1573C>T (n.*1573C>T) n.567C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119339386G>C | CA382967905 | C1QTNF5,MFRP | c.677C>G (p.Thr226Ser) c.*1573C>G (n.*1573C>G) n.567C>G | |
| 11 | g.119339386G= | CA2003913151 | C1QTNF5,MFRP | c.677C= (p.Thr226=) c.*1573C= (n.*1573C=) n.567C= | |
| 11 | g.119339386G>T | CA382967906 | C1QTNF5,MFRP | c.677C>A (p.Thr226Asn) c.*1573C>A (n.*1573C>A) n.567C>A | |
| 11 | g.119339387T>A | CA382967909 | C1QTNF5,MFRP | c.676A>T (p.Thr226Ser) c.*1572A>T (n.*1572A>T) n.566A>T | |
| 11 | g.119339387T>C | CA382967912 | C1QTNF5,MFRP | c.676A>G (p.Thr226Ala) c.*1572A>G (n.*1572A>G) n.566A>G | |
| 11 | g.119339387T>G | CA382967910 | C1QTNF5,MFRP | c.676A>C (p.Thr226Pro) c.*1572A>C (n.*1572A>C) n.566A>C | |
| 11 | g.119339388G>A | CA477377325 | C1QTNF5,MFRP | c.675C>T (p.Ser225=) c.*1571C>T (n.*1571C>T) n.565C>T | |
| 11 | g.119339388G>C | CA382967922 | C1QTNF5,MFRP | c.675C>G (p.Ser225Arg) c.*1571C>G (n.*1571C>G) n.565C>G | |
| 11 | g.119339388G>T | CA382967923 | C1QTNF5,MFRP | c.675C>A (p.Ser225Arg) c.*1571C>A (n.*1571C>A) n.565C>A | |
| 11 | g.119339388_119339392delinsGCTGT | CA2003913153 | C1QTNF5,MFRP | c.671_675delinsACAGC (p.Asp224=) c.*1567_*1571delinsACAGC (n.*1567_*1571delinsACAGC) n.561_565delinsACAGC | |
| 11 | g.119339389C>A | CA382967928 | C1QTNF5,MFRP | c.674G>T (p.Ser225Ile) c.*1570G>T (n.*1570G>T) n.564G>T | |
| 11 | g.119339389C>G | CA382967930 | C1QTNF5,MFRP | c.674G>C (p.Ser225Thr) c.*1570G>C (n.*1570G>C) n.564G>C | |
| 11 | g.119339389C>T | CA382967934 | C1QTNF5,MFRP | c.674G>A (p.Ser225Asn) c.*1570G>A (n.*1570G>A) n.564G>A | |
| 11 | g.119339395_119339398del | CA6319901 | C1QTNF5,MFRP | c.671_674del (p.Asp224AlafsTer?) c.*1567_*1570del (n.*1567_*1570del) n.561_564del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119339390T>A | CA382967938 | C1QTNF5,MFRP | c.673A>T (p.Ser225Cys) c.*1569A>T (n.*1569A>T) n.563A>T | |
| 11 | g.119339390T>C | CA382967941 | C1QTNF5,MFRP | c.673A>G (p.Ser225Gly) c.*1569A>G (n.*1569A>G) n.563A>G | |
| 11 | g.119339390T>G | CA382967944 | C1QTNF5,MFRP | c.673A>C (p.Ser225Arg) c.*1569A>C (n.*1569A>C) n.563A>C | |
| 11 | g.119339391G>A | CA477377328 | C1QTNF5,MFRP | c.672C>T (p.Asp224=) c.*1568C>T (n.*1568C>T) n.562C>T | |
| 11 | g.119339391G>C | CA6319902 | C1QTNF5,MFRP | c.672C>G (p.Asp224Glu) c.*1568C>G (n.*1568C>G) n.562C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119339391G= | CA2003913160 | C1QTNF5,MFRP | c.672C= (p.Asp224=) c.*1568C= (n.*1568C=) n.562C= | |
| 11 | g.119339391G>T | CA382967948 | C1QTNF5,MFRP | c.672C>A (p.Asp224Glu) c.*1568C>A (n.*1568C>A) n.562C>A | |
| 11 | g.119339392T>A | CA382967955 | C1QTNF5,MFRP | c.671A>T (p.Asp224Val) c.*1567A>T (n.*1567A>T) n.561A>T | |
| 11 | g.119339392T>C | CA382967953 | C1QTNF5,MFRP | c.671A>G (p.Asp224Gly) c.*1567A>G (n.*1567A>G) n.561A>G | |
| 11 | g.119339392T>G | CA382967951 | C1QTNF5,MFRP | c.671A>C (p.Asp224Ala) c.*1567A>C (n.*1567A>C) n.561A>C | |
| 11 | g.119339393C>A | CA382967960 | C1QTNF5,MFRP | c.670G>T (p.Asp224Tyr) c.*1566G>T (n.*1566G>T) n.560G>T | |
| 11 | g.119339393C>G | CA382967958 | C1QTNF5,MFRP | c.670G>C (p.Asp224His) c.*1566G>C (n.*1566G>C) n.560G>C | |
| 11 | g.119339393C>T | CA382967961 | C1QTNF5,MFRP | c.670G>A (p.Asp224Asn) c.*1566G>A (n.*1566G>A) n.560G>A | |
| 11 | g.119339394T>A | CA477377329 | C1QTNF5,MFRP | c.669A>T (p.Thr223=) c.*1565A>T (n.*1565A>T) n.559A>T | |
| 11 | g.119339394T>C | CA477377330 | C1QTNF5,MFRP | c.669A>G (p.Thr223=) c.*1565A>G (n.*1565A>G) n.559A>G | |
| 11 | g.119339394T>G | CA477377331 | C1QTNF5,MFRP | c.669A>C (p.Thr223=) c.*1565A>C (n.*1565A>C) n.559A>C | dbSNP gnomAD v4 |
| 11 | g.119339394T= | CA2003913161 | C1QTNF5,MFRP | c.669A= (p.Thr223=) c.*1565A= (n.*1565A=) n.559A= | |
| 11 | g.119339395G>A | CA382967963 | C1QTNF5,MFRP | c.668C>T (p.Thr223Ile) c.*1564C>T (n.*1564C>T) n.558C>T | |
| 11 | g.119339395G>C | CA382967967 | C1QTNF5,MFRP | c.668C>G (p.Thr223Arg) c.*1564C>G (n.*1564C>G) n.558C>G | gnomAD v4 COSMIC |
| 11 | g.119339395G>T | CA382967965 | C1QTNF5,MFRP | c.668C>A (p.Thr223Lys) c.*1564C>A (n.*1564C>A) n.558C>A | |
| 11 | g.119339396_119339407del | CA2616397355 | C1QTNF5,MFRP | c.657_668del (p.Ser220_Thr223del) c.*1553_*1564del (n.*1553_*1564del) n.547_558del | gnomAD v4 |
| 11 | g.119339396T>A | CA382967970 | C1QTNF5,MFRP | c.667A>T (p.Thr223Ser) c.*1563A>T (n.*1563A>T) n.557A>T | |
| 11 | g.119339396T>C | CA382967973 | C1QTNF5,MFRP | c.667A>G (p.Thr223Ala) c.*1563A>G (n.*1563A>G) n.557A>G | |
| 11 | g.119339396T>G | CA382967976 | C1QTNF5,MFRP | c.667A>C (p.Thr223Pro) c.*1563A>C (n.*1563A>C) n.557A>C | |
| 11 | g.119339397C>A | CA382967984 | C1QTNF5,MFRP | c.666G>T (p.Lys222Asn) c.*1562G>T (n.*1562G>T) n.556G>T | |
| 11 | g.119339397C>G | CA382967986 | C1QTNF5,MFRP | c.666G>C (p.Lys222Asn) c.*1562G>C (n.*1562G>C) n.556G>C | |
| 11 | g.119339397C>T | CA477377334 | C1QTNF5,MFRP | c.666G>A (p.Lys222=) c.*1562G>A (n.*1562G>A) n.556G>A | gnomAD v4 |
| 11 | g.119339398T>A | CA382967989 | C1QTNF5,MFRP | c.665A>T (p.Lys222Met) c.*1561A>T (n.*1561A>T) n.555A>T | |
| 11 | g.119339398T>C | CA382967992 | C1QTNF5,MFRP | c.665A>G (p.Lys222Arg) c.*1561A>G (n.*1561A>G) n.555A>G | |
| 11 | g.119339398T>G | CA382967994 | C1QTNF5,MFRP | c.665A>C (p.Lys222Thr) c.*1561A>C (n.*1561A>C) n.555A>C | |
| 11 | g.119339399T>A | CA382967996 | C1QTNF5,MFRP | c.664A>T (p.Lys222Ter) c.*1560A>T (n.*1560A>T) n.554A>T | |
| 11 | g.119339399T>C | CA382967998 | C1QTNF5,MFRP | c.664A>G (p.Lys222Glu) c.*1560A>G (n.*1560A>G) n.554A>G | |
| 11 | g.119339399T>G | CA382967999 | C1QTNF5,MFRP | c.664A>C (p.Lys222Gln) c.*1560A>C (n.*1560A>C) n.554A>C | gnomAD v4 |
| 11 | g.119339400G>A | CA6319903 | C1QTNF5,MFRP | c.663C>T (p.Ile221=) c.*1559C>T (n.*1559C>T) n.553C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339400G>C | CA382968002 | C1QTNF5,MFRP | c.663C>G (p.Ile221Met) c.*1559C>G (n.*1559C>G) n.553C>G | |
| 11 | g.119339400G= | CA2003913165 | C1QTNF5,MFRP | c.663C= (p.Ile221=) c.*1559C= (n.*1559C=) n.553C= | |
| 11 | g.119339400G>T | CA477377336 | C1QTNF5,MFRP | c.663C>A (p.Ile221=) c.*1559C>A (n.*1559C>A) n.553C>A | |
| 11 | g.119339401A>C | CA382968007 | C1QTNF5,MFRP | c.662T>G (p.Ile221Ser) c.*1558T>G (n.*1558T>G) n.552T>G | |
| 11 | g.119339401A>G | CA382968005 | C1QTNF5,MFRP | c.662T>C (p.Ile221Thr) c.*1558T>C (n.*1558T>C) n.552T>C | |
| 11 | g.119339401A>T | CA382968004 | C1QTNF5,MFRP | c.662T>A (p.Ile221Asn) c.*1558T>A (n.*1558T>A) n.552T>A | |
| 11 | g.119339402T>A | CA382968009 | C1QTNF5,MFRP | c.661A>T (p.Ile221Phe) c.*1557A>T (n.*1557A>T) n.551A>T | gnomAD v4 |
| 11 | g.119339402T>C | CA382968010 | C1QTNF5,MFRP | c.661A>G (p.Ile221Val) c.*1557A>G (n.*1557A>G) n.551A>G | |
| 11 | g.119339402T>G | CA382968013 | C1QTNF5,MFRP | c.661A>C (p.Ile221Leu) c.*1557A>C (n.*1557A>C) n.551A>C | |
| 11 | g.119339403G>A | CA477377338 | C1QTNF5,MFRP | c.660C>T (p.Ser220=) c.*1556C>T (n.*1556C>T) n.550C>T | |
| 11 | g.119339403G>C | CA382968015 | C1QTNF5,MFRP | c.660C>G (p.Ser220Arg) c.*1556C>G (n.*1556C>G) n.550C>G | |
| 11 | g.119339403G>T | CA382968016 | C1QTNF5,MFRP | c.660C>A (p.Ser220Arg) c.*1556C>A (n.*1556C>A) n.550C>A | |
| 11 | g.119339404C>A | CA382968018 | C1QTNF5,MFRP | c.659G>T (p.Ser220Ile) c.*1555G>T (n.*1555G>T) n.549G>T | |
| 11 | g.119339404C= | CA2003913166 | C1QTNF5,MFRP | c.659G= (p.Ser220=) c.*1555G= (n.*1555G=) n.549G= | |
| 11 | g.119339404C>G | CA382968020 | C1QTNF5,MFRP | c.659G>C (p.Ser220Thr) c.*1555G>C (n.*1555G>C) n.549G>C | dbSNP |
| 11 | g.119339404C>T | CA382968022 | C1QTNF5,MFRP | c.659G>A (p.Ser220Asn) c.*1555G>A (n.*1555G>A) n.549G>A | |
| 11 | g.119339405T>A | CA382968024 | C1QTNF5,MFRP | c.658A>T (p.Ser220Cys) c.*1554A>T (n.*1554A>T) n.548A>T | |
| 11 | g.119339405T>C | CA382968026 | C1QTNF5,MFRP | c.658A>G (p.Ser220Gly) c.*1554A>G (n.*1554A>G) n.548A>G | |
| 11 | g.119339405T>G | CA382968027 | C1QTNF5,MFRP | c.658A>C (p.Ser220Arg) c.*1554A>C (n.*1554A>C) n.548A>C | gnomAD v4 |
| 11 | g.119339406G>A | CA229673477 | C1QTNF5,MFRP | c.657C>T (p.Ala219=) c.*1553C>T (n.*1553C>T) n.547C>T | dbSNP gnomAD v4 |
| 11 | g.119339406G>C | CA477377340 | C1QTNF5,MFRP | c.657C>G (p.Ala219=) c.*1553C>G (n.*1553C>G) n.547C>G | |
| 11 | g.119339406G= | CA2003913169 | C1QTNF5,MFRP | c.657C= (p.Ala219=) c.*1553C= (n.*1553C=) n.547C= | |
| 11 | g.119339406G>T | CA477377341 | C1QTNF5,MFRP | c.657C>A (p.Ala219=) c.*1553C>A (n.*1553C>A) n.547C>A | |
| 11 | g.119339407G>A | CA382968028 | C1QTNF5,MFRP | c.656C>T (p.Ala219Val) c.*1552C>T (n.*1552C>T) n.546C>T | gnomAD v4 |
| 11 | g.119339407G>C | CA382968030 | C1QTNF5,MFRP | c.656C>G (p.Ala219Gly) c.*1552C>G (n.*1552C>G) n.546C>G | gnomAD v4 |
| 11 | g.119339407G>T | CA382968031 | C1QTNF5,MFRP | c.656C>A (p.Ala219Asp) c.*1552C>A (n.*1552C>A) n.546C>A | |
| 11 | g.119339408C>A | CA382968036 | C1QTNF5,MFRP | c.655G>T (p.Ala219Ser) c.*1551G>T (n.*1551G>T) n.545G>T | |
| 11 | g.119339408C>G | CA382968035 | C1QTNF5,MFRP | c.655G>C (p.Ala219Pro) c.*1551G>C (n.*1551G>C) n.545G>C | |
| 11 | g.119339408C>T | CA382968033 | C1QTNF5,MFRP | c.655G>A (p.Ala219Thr) c.*1551G>A (n.*1551G>A) n.545G>A | |
| 11 | g.119339409A= | CA2003913179 | C1QTNF5,MFRP | c.654T= (p.Tyr218=) c.*1550T= (n.*1550T=) n.544T= | |
| 11 | g.119339409A>C | CA382968037 | C1QTNF5,MFRP | c.654T>G (p.Tyr218Ter) c.*1550T>G (n.*1550T>G) n.544T>G | |
| 11 | g.119339409A>G | CA477377342 | C1QTNF5,MFRP | c.654T>C (p.Tyr218=) c.*1550T>C (n.*1550T>C) n.544T>C | dbSNP |
| 11 | g.119339409A>T | CA382968039 | C1QTNF5,MFRP | c.654T>A (p.Tyr218Ter) c.*1550T>A (n.*1550T>A) n.544T>A | |
| 11 | g.119339410T>A | CA6319904 | C1QTNF5,MFRP | c.653A>T (p.Tyr218Phe) c.*1549A>T (n.*1549A>T) n.543A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119339410T>C | CA382968042 | C1QTNF5,MFRP | c.653A>G (p.Tyr218Cys) c.*1549A>G (n.*1549A>G) n.543A>G | dbSNP |
| 11 | g.119339410T>G | CA382968043 | C1QTNF5,MFRP | c.653A>C (p.Tyr218Ser) c.*1549A>C (n.*1549A>C) n.543A>C | |
| 11 | g.119339410T= | CA2003913182 | C1QTNF5,MFRP | c.653A= (p.Tyr218=) c.*1549A= (n.*1549A=) n.543A= | |
| 11 | g.119339411A>C | CA382968044 | C1QTNF5,MFRP | c.652T>G (p.Tyr218Asp) c.*1548T>G (n.*1548T>G) n.542T>G | |
| 11 | g.119339411A>G | CA382968045 | C1QTNF5,MFRP | c.652T>C (p.Tyr218His) c.*1548T>C (n.*1548T>C) n.542T>C | |
| 11 | g.119339411A>T | CA382968046 | C1QTNF5,MFRP | c.652T>A (p.Tyr218Asn) c.*1548T>A (n.*1548T>A) n.542T>A | |
| 11 | g.119339412G>A | CA477377344 | C1QTNF5,MFRP | c.651C>T (p.Ile217=) c.*1547C>T (n.*1547C>T) n.541C>T | |
| 11 | g.119339412G>C | CA382968047 | C1QTNF5,MFRP | c.651C>G (p.Ile217Met) c.*1547C>G (n.*1547C>G) n.541C>G | COSMIC |
| 11 | g.119339412G>T | CA477377346 | C1QTNF5,MFRP | c.651C>A (p.Ile217=) c.*1547C>A (n.*1547C>A) n.541C>A | |
| 11 | g.119339413A>C | CA382968048 | C1QTNF5,MFRP | c.650T>G (p.Ile217Ser) c.*1546T>G (n.*1546T>G) n.540T>G | |
| 11 | g.119339413A>G | CA382968051 | C1QTNF5,MFRP | c.650T>C (p.Ile217Thr) c.*1546T>C (n.*1546T>C) n.540T>C | |
| 11 | g.119339413A>T | CA382968052 | C1QTNF5,MFRP | c.650T>A (p.Ile217Asn) c.*1546T>A (n.*1546T>A) n.540T>A | |
| 11 | g.119339414T>A | CA382968059 | C1QTNF5,MFRP | c.649A>T (p.Ile217Phe) c.*1545A>T (n.*1545A>T) n.539A>T | gnomAD v4 |
| 11 | g.119339414T>C | CA382968056 | C1QTNF5,MFRP | c.649A>G (p.Ile217Val) c.*1545A>G (n.*1545A>G) n.539A>G | |
| 11 | g.119339414T>G | CA382968055 | C1QTNF5,MFRP | c.649A>C (p.Ile217Leu) c.*1545A>C (n.*1545A>C) n.539A>C | |
| 11 | g.119339415G>A | CA477377350 | C1QTNF5,MFRP | c.648C>T (p.Gly216=) c.*1544C>T (n.*1544C>T) n.538C>T | ClinVar gnomAD v4 |
| 11 | g.119339415G>C | CA477377351 | C1QTNF5,MFRP | c.648C>G (p.Gly216=) c.*1544C>G (n.*1544C>G) n.538C>G | |
| 11 | g.119339415G>T | CA477377352 | C1QTNF5,MFRP | c.648C>A (p.Gly216=) c.*1544C>A (n.*1544C>A) n.538C>A | |
| 11 | g.119339416C>A | CA382968061 | C1QTNF5,MFRP | c.647G>T (p.Gly216Val) c.*1543G>T (n.*1543G>T) n.537G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.119339416C= | CA2003913186 | C1QTNF5,MFRP | c.647G= (p.Gly216=) c.*1543G= (n.*1543G=) n.537G= | |
| 11 | g.119339416C>G | CA382968063 | C1QTNF5,MFRP | c.647G>C (p.Gly216Ala) c.*1543G>C (n.*1543G>C) n.537G>C | |
| 11 | g.119339416C>T | CA382968065 | C1QTNF5,MFRP | c.647G>A (p.Gly216Asp) c.*1543G>A (n.*1543G>A) n.537G>A | |
| 11 | g.119339417C>A | CA382968068 | C1QTNF5,MFRP | c.646G>T (p.Gly216Cys) c.*1542G>T (n.*1542G>T) n.536G>T | |
| 11 | g.119339417C>G | CA382968071 | C1QTNF5,MFRP | c.646G>C (p.Gly216Arg) c.*1542G>C (n.*1542G>C) n.536G>C | |
| 11 | g.119339417C>T | CA382968072 | C1QTNF5,MFRP | c.646G>A (p.Gly216Ser) c.*1542G>A (n.*1542G>A) n.536G>A | |
| 11 | g.119339418A>C | CA382968074 | C1QTNF5,MFRP | c.645T>G (p.Ile215Met) c.*1541T>G (n.*1541T>G) n.535T>G | |
| 11 | g.119339418A>G | CA477377356 | C1QTNF5,MFRP | c.645T>C (p.Ile215=) c.*1541T>C (n.*1541T>C) n.535T>C | |
| 11 | g.119339418A>T | CA477377357 | C1QTNF5,MFRP | c.645T>A (p.Ile215=) c.*1541T>A (n.*1541T>A) n.535T>A | |
| 11 | g.119339419A= | CA2003913199 | C1QTNF5,MFRP | c.644T= (p.Ile215=) c.*1540T= (n.*1540T=) n.534T= | |
| 11 | g.119339419A>C | CA382968076 | C1QTNF5,MFRP | c.644T>G (p.Ile215Ser) c.*1540T>G (n.*1540T>G) n.534T>G | |
| 11 | g.119339419A>G | CA6319905 | C1QTNF5,MFRP | c.644T>C (p.Ile215Thr) c.*1540T>C (n.*1540T>C) n.534T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119339419A>T | CA382968081 | C1QTNF5,MFRP | c.644T>A (p.Ile215Asn) c.*1540T>A (n.*1540T>A) n.534T>A | |
| 11 | g.119339420T>A | CA382968083 | C1QTNF5,MFRP | c.643A>T (p.Ile215Phe) c.*1539A>T (n.*1539A>T) n.533A>T | |
| 11 | g.119339420T>C | CA382968084 | C1QTNF5,MFRP | c.643A>G (p.Ile215Val) c.*1539A>G (n.*1539A>G) n.533A>G | |
| 11 | g.119339420T>G | CA382968086 | C1QTNF5,MFRP | c.643A>C (p.Ile215Leu) c.*1539A>C (n.*1539A>C) n.533A>C | |
| 11 | g.119339421G>A | CA6319906 | C1QTNF5,MFRP | c.642C>T (p.Tyr214=) c.*1538C>T (n.*1538C>T) n.532C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339421G>C | CA382968091 | C1QTNF5,MFRP | c.642C>G (p.Tyr214Ter) c.*1538C>G (n.*1538C>G) n.532C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.119339421G= | CA2003913201 | C1QTNF5,MFRP | c.642C= (p.Tyr214=) c.*1538C= (n.*1538C=) n.532C= | |
| 11 | g.119339421G>T | CA382968087 | C1QTNF5,MFRP | c.642C>A (p.Tyr214Ter) c.*1538C>A (n.*1538C>A) n.532C>A | |
| 11 | g.119339422T>A | CA382968094 | C1QTNF5,MFRP | c.641A>T (p.Tyr214Phe) c.*1537A>T (n.*1537A>T) n.531A>T | |
| 11 | g.119339422T>C | CA382968099 | C1QTNF5,MFRP | c.641A>G (p.Tyr214Cys) c.*1537A>G (n.*1537A>G) n.531A>G | |
| 11 | g.119339422T>G | CA382968096 | C1QTNF5,MFRP | c.641A>C (p.Tyr214Ser) c.*1537A>C (n.*1537A>C) n.531A>C | |
| 11 | g.119339423A>C | CA382968104 | C1QTNF5,MFRP | c.640T>G (p.Tyr214Asp) c.*1536T>G (n.*1536T>G) n.530T>G | |
| 11 | g.119339423A>G | CA382968105 | C1QTNF5,MFRP | c.640T>C (p.Tyr214His) c.*1536T>C (n.*1536T>C) n.530T>C | |
| 11 | g.119339423A>T | CA382968107 | C1QTNF5,MFRP | c.640T>A (p.Tyr214Asn) c.*1536T>A (n.*1536T>A) n.530T>A | |
| 11 | g.119339423_119339424insTATGACTATCTCGAACGGAATGCCACTGATGAGGATAAAGTGGCAGGACTGGACATCGCAGATTTCCTTCTACGGCAAATGCCCAACCTGAAAGTACCATCTGCAAAAGCTGATGAAGGAGT | CA2793833657 | C1QTNF5,MFRP | c.639_640insACTCCTTCATCAGCTTTTGCAGATGGTACTTTCAGGTTGGGCATTTGCCGTAGAAGGAAATCTGCGATGTCCAGTCCTGCCACTTTATCCTCATCAGTGGCATTCCGTTCGAGATAGTCATA (p.Tyr214ThrfsTer39) c.*1535_*1536insACTCCTTCATCAGCTTTTGCAGATGGTACTTTCAGGTTGGGCATTTGCCGTAGAAGGAAATCTGCGATGTCCAGTCCTGCCACTTTATCCTCATCAGTGGCATTCCGTTCGAGATAGTCATA (n.*1535_*1536insACTCCTTCATCAGCTTTTGCAGATGGTACTTTCAGGTTGGGCATTTGCCGTAGAAGGAAATCTGCGATGTCCAGTCCTGCCACTTTATCCTCATCAGTGGCATTCCGTTCGAGATAGTCATA) n.529_530insACTCCTTCATCAGCTTTTGCAGATGGTACTTTCAGGTTGGGCATTTGCCGTAGAAGGAAATCTGCGATGTCCAGTCCTGCCACTTTATCCTCATCAGTGGCATTCCGTTCGAGATAGTCATA | |
| 11 | g.119339424G>A | CA477377363 | C1QTNF5,MFRP | c.639C>T (p.Asp213=) c.*1535C>T (n.*1535C>T) n.529C>T | |
| 11 | g.119339424G>C | CA382968109 | C1QTNF5,MFRP | c.639C>G (p.Asp213Glu) c.*1535C>G (n.*1535C>G) n.529C>G | |
| 11 | g.119339424G>T | CA382968111 | C1QTNF5,MFRP | c.639C>A (p.Asp213Glu) c.*1535C>A (n.*1535C>A) n.529C>A | |
| 11 | g.119339425T>A | CA382968113 | C1QTNF5,MFRP | c.638A>T (p.Asp213Val) c.*1534A>T (n.*1534A>T) n.528A>T | |
| 11 | g.119339425T>C | CA382968114 | C1QTNF5,MFRP | c.638A>G (p.Asp213Gly) c.*1534A>G (n.*1534A>G) n.528A>G | |
| 11 | g.119339425T>G | CA382968117 | C1QTNF5,MFRP | c.638A>C (p.Asp213Ala) c.*1534A>C (n.*1534A>C) n.528A>C | |
| 11 | g.119339426C>A | CA382968118 | C1QTNF5,MFRP | c.637G>T (p.Asp213Tyr) c.*1533G>T (n.*1533G>T) n.527G>T | |
| 11 | g.119339426C>G | CA382968120 | C1QTNF5,MFRP | c.637G>C (p.Asp213His) c.*1533G>C (n.*1533G>C) n.527G>C | |
| 11 | g.119339426C>T | CA382968123 | C1QTNF5,MFRP | c.637G>A (p.Asp213Asn) c.*1533G>A (n.*1533G>A) n.527G>A | |
| 11 | g.119339427A= | CA2003913207 | C1QTNF5,MFRP | c.636T= (p.Gly212=) c.*1532T= (n.*1532T=) n.526T= | |
| 11 | g.119339427A>C | CA477377365 | C1QTNF5,MFRP | c.636T>G (p.Gly212=) c.*1532T>G (n.*1532T>G) n.526T>G | dbSNP |
| 11 | g.119339427A>G | CA477377366 | C1QTNF5,MFRP | c.636T>C (p.Gly212=) c.*1532T>C (n.*1532T>C) n.526T>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.119339427A>T | CA477377367 | C1QTNF5,MFRP | c.636T>A (p.Gly212=) c.*1532T>A (n.*1532T>A) n.526T>A | gnomAD v4 |
| 11 | g.119339428C>A | CA382968129 | C1QTNF5,MFRP | c.635G>T (p.Gly212Val) c.*1531G>T (n.*1531G>T) n.525G>T | |
| 11 | g.119339428C= | CA2003913213 | C1QTNF5,MFRP | c.635G= (p.Gly212=) c.*1531G= (n.*1531G=) n.525G= | |
| 11 | g.119339428C>G | CA382968125 | C1QTNF5,MFRP | c.635G>C (p.Gly212Ala) c.*1531G>C (n.*1531G>C) n.525G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.119339428C>T | CA382968127 | C1QTNF5,MFRP | c.635G>A (p.Gly212Asp) c.*1531G>A (n.*1531G>A) n.525G>A | |
| 11 | g.119339429C>A | CA382968131 | C1QTNF5,MFRP | c.634G>T (p.Gly212Cys) c.*1530G>T (n.*1530G>T) n.524G>T | |
| 11 | g.119339429C= | CA2003913219 | C1QTNF5,MFRP | c.634G= (p.Gly212=) c.*1530G= (n.*1530G=) n.524G= | |
| 11 | g.119339429C>G | CA382968134 | C1QTNF5,MFRP | c.634G>C (p.Gly212Arg) c.*1530G>C (n.*1530G>C) n.524G>C | |
| 11 | g.119339429C>T | CA6319907 | C1QTNF5,MFRP | c.634G>A (p.Gly212Ser) c.*1530G>A (n.*1530G>A) n.524G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339430C>A | CA477377370 | C1QTNF5,MFRP | c.633G>T (p.Val211=) c.*1529G>T (n.*1529G>T) n.523G>T | |
| 11 | g.119339430C>G | CA477377371 | C1QTNF5,MFRP | c.633G>C (p.Val211=) c.*1529G>C (n.*1529G>C) n.523G>C | COSMIC |
| 11 | g.119339430C>T | CA477377372 | C1QTNF5,MFRP | c.633G>A (p.Val211=) c.*1529G>A (n.*1529G>A) n.523G>A | |
| 11 | g.119339431A>C | CA382968137 | C1QTNF5,MFRP | c.632T>G (p.Val211Gly) c.*1528T>G (n.*1528T>G) n.522T>G | |
| 11 | g.119339431A>G | CA382968138 | C1QTNF5,MFRP | c.632T>C (p.Val211Ala) c.*1528T>C (n.*1528T>C) n.522T>C | |
| 11 | g.119339431A>T | CA382968142 | C1QTNF5,MFRP | c.632T>A (p.Val211Glu) c.*1528T>A (n.*1528T>A) n.522T>A | |
| 11 | g.119339432C>A | CA382968145 | C1QTNF5,MFRP | c.631G>T (p.Val211Leu) c.*1527G>T (n.*1527G>T) n.521G>T | |
| 11 | g.119339432C>G | CA382968146 | C1QTNF5,MFRP | c.631G>C (p.Val211Leu) c.*1527G>C (n.*1527G>C) n.521G>C | |
| 11 | g.119339432C>T | CA382968148 | C1QTNF5,MFRP | c.631G>A (p.Val211Met) c.*1527G>A (n.*1527G>A) n.521G>A | gnomAD v4 |
| 11 | g.119339433A= | CA2003913227 | C1QTNF5,MFRP | c.630T= (p.Gly210=) c.*1526T= (n.*1526T=) n.520T= | |
| 11 | g.119339433A>C | CA477377374 | C1QTNF5,MFRP | c.630T>G (p.Gly210=) c.*1526T>G (n.*1526T>G) n.520T>G | dbSNP |
| 11 | g.119339433A>G | CA6319908 | C1QTNF5,MFRP | c.630T>C (p.Gly210=) c.*1526T>C (n.*1526T>C) n.520T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339433A>T | CA477377375 | C1QTNF5,MFRP | c.630T>A (p.Gly210=) c.*1526T>A (n.*1526T>A) n.520T>A | |
| 11 | g.119339434C>A | CA382968155 | C1QTNF5,MFRP | c.629G>T (p.Gly210Val) c.*1525G>T (n.*1525G>T) n.519G>T | |
| 11 | g.119339434C= | CA2003913232 | C1QTNF5,MFRP | c.629G= (p.Gly210=) c.*1525G= (n.*1525G=) n.519G= | |
| 11 | g.119339434C>G | CA382968157 | C1QTNF5,MFRP | c.629G>C (p.Gly210Ala) c.*1525G>C (n.*1525G>C) n.519G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119339434C>T | CA382968152 | C1QTNF5,MFRP | c.629G>A (p.Gly210Asp) c.*1525G>A (n.*1525G>A) n.519G>A | ClinVar gnomAD v4 |
| 11 | g.119339435C>A | CA382968159 | C1QTNF5,MFRP | c.628G>T (p.Gly210Cys) c.*1524G>T (n.*1524G>T) n.518G>T | |
| 11 | g.119339435C= | CA2003913246 | C1QTNF5,MFRP | c.628G= (p.Gly210=) c.*1524G= (n.*1524G=) n.518G= | |
| 11 | g.119339435C>G | CA382968162 | C1QTNF5,MFRP | c.628G>C (p.Gly210Arg) c.*1524G>C (n.*1524G>C) n.518G>C | ClinVar dbSNP |
| 11 | g.119339435C>T | CA382968164 | C1QTNF5,MFRP | c.628G>A (p.Gly210Ser) c.*1524G>A (n.*1524G>A) n.518G>A | dbSNP gnomAD v2 |
| 11 | g.119339436C>A | CA477377377 | C1QTNF5,MFRP | c.627G>T (p.Val209=) c.*1523G>T (n.*1523G>T) n.517G>T | gnomAD v4 |
| 11 | g.119339436C= | CA2003913255 | C1QTNF5,MFRP | c.627G= (p.Val209=) c.*1523G= (n.*1523G=) n.517G= | |
| 11 | g.119339436C>G | CA6319909 | C1QTNF5,MFRP | c.627G>C (p.Val209=) c.*1523G>C (n.*1523G>C) n.517G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.119339436C>T | CA477377378 | C1QTNF5,MFRP | c.627G>A (p.Val209=) c.*1523G>A (n.*1523G>A) n.517G>A | dbSNP |
| 11 | g.119339437A= | CA2003913258 | C1QTNF5,MFRP | c.626T= (p.Val209=) c.*1522T= (n.*1522T=) n.516T= | |
| 11 | g.119339437A>C | CA382968169 | C1QTNF5,MFRP | c.626T>G (p.Val209Gly) c.*1522T>G (n.*1522T>G) n.516T>G | dbSNP |
| 11 | g.119339437A>G | CA382968172 | C1QTNF5,MFRP | c.626T>C (p.Val209Ala) c.*1522T>C (n.*1522T>C) n.516T>C | |
| 11 | g.119339437A>T | CA382968173 | C1QTNF5,MFRP | c.626T>A (p.Val209Glu) c.*1522T>A (n.*1522T>A) n.516T>A | |
| 11 | g.119339438C>A | CA382968175 | C1QTNF5,MFRP | c.625G>T (p.Val209Leu) c.*1521G>T (n.*1521G>T) n.515G>T | |
| 11 | g.119339438C= | CA2003913261 | C1QTNF5,MFRP | c.625G= (p.Val209=) c.*1521G= (n.*1521G=) n.515G= | |
| 11 | g.119339438C>G | CA382968176 | C1QTNF5,MFRP | c.625G>C (p.Val209Leu) c.*1521G>C (n.*1521G>C) n.515G>C | |
| 11 | g.119339438C>T | CA6319910 | C1QTNF5,MFRP | c.625G>A (p.Val209Met) c.*1521G>A (n.*1521G>A) n.515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.119339439C>A | CA382968180 | C1QTNF5,MFRP | c.624G>T (p.Gln208His) c.*1520G>T (n.*1520G>T) n.514G>T | |
| 11 | g.119339439C>G | CA382968183 | C1QTNF5,MFRP | c.624G>C (p.Gln208His) c.*1520G>C (n.*1520G>C) n.514G>C | |
| 11 | g.119339439C>T | CA477377383 | C1QTNF5,MFRP | c.624G>A (p.Gln208=) c.*1520G>A (n.*1520G>A) n.514G>A | gnomAD v4 |
| 11 | g.119339440T>A | CA382968189 | C1QTNF5,MFRP | c.623A>T (p.Gln208Leu) c.*1519A>T (n.*1519A>T) n.513A>T | |
| 11 | g.119339440T>C | CA382968185 | C1QTNF5,MFRP | c.623A>G (p.Gln208Arg) c.*1519A>G (n.*1519A>G) n.513A>G | |
| 11 | g.119339440T>G | CA382968186 | C1QTNF5,MFRP | c.623A>C (p.Gln208Pro) c.*1519A>C (n.*1519A>C) n.513A>C | |
| 11 | g.119339441G>A | CA382968190 | C1QTNF5,MFRP | c.622C>T (p.Gln208Ter) c.*1518C>T (n.*1518C>T) n.512C>T | gnomAD v4 |
| 11 | g.119339441G>C | CA382968193 | C1QTNF5,MFRP | c.622C>G (p.Gln208Glu) c.*1518C>G (n.*1518C>G) n.512C>G | |
| 11 | g.119339441G>T | CA382968195 | C1QTNF5,MFRP | c.622C>A (p.Gln208Lys) c.*1518C>A (n.*1518C>A) n.512C>A | |
| 11 | g.119339442C>A | CA477377390 | C1QTNF5,MFRP | c.621G>T (p.Val207=) c.*1517G>T (n.*1517G>T) n.511G>T | |
| 11 | g.119339442C= | CA2003913265 | C1QTNF5,MFRP | c.621G= (p.Val207=) c.*1517G= (n.*1517G=) n.511G= | |
| 11 | g.119339442C>G | CA477377388 | C1QTNF5,MFRP | c.621G>C (p.Val207=) c.*1517G>C (n.*1517G>C) n.511G>C | |
| 11 | g.119339442C>T | CA477377387 | C1QTNF5,MFRP | c.621G>A (p.Val207=) c.*1517G>A (n.*1517G>A) n.511G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.119339443_119339444dup | CA2575062205 | C1QTNF5,MFRP | c.620_621dup (p.Gln208CysfsTer?) c.*1516_*1517dup (n.*1516_*1517dup) n.510_511dup |