| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.72313703G>A | CA439879097 | ADAMTS3 | c.1719C>T (p.Phe573=) c.1662C>T (p.Phe554=) c.1635C>T (p.Phe545=) c.1077C>T (p.Phe359=) c.987C>T (p.Phe329=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.72313703G>C | CA357430754 | ADAMTS3 | c.1719C>G (p.Phe573Leu) c.1662C>G (p.Phe554Leu) c.1635C>G (p.Phe545Leu) c.1077C>G (p.Phe359Leu) c.987C>G (p.Phe329Leu) | |
| 4 | g.72313703G= | CA1467599834 | ADAMTS3 | c.1719C= (p.Phe573=) c.1662C= (p.Phe554=) c.1635C= (p.Phe545=) c.1077C= (p.Phe359=) c.987C= (p.Phe329=) | |
| 4 | g.72313703G>T | CA357430755 | ADAMTS3 | c.1719C>A (p.Phe573Leu) c.1662C>A (p.Phe554Leu) c.1635C>A (p.Phe545Leu) c.1077C>A (p.Phe359Leu) c.987C>A (p.Phe329Leu) | COSMIC |
| 4 | g.72313704A>C | CA357430756 | ADAMTS3 | c.1718T>G (p.Phe573Cys) c.1661T>G (p.Phe554Cys) c.1634T>G (p.Phe545Cys) c.1076T>G (p.Phe359Cys) c.986T>G (p.Phe329Cys) | |
| 4 | g.72313704A>G | CA357430757 | ADAMTS3 | c.1718T>C (p.Phe573Ser) c.1661T>C (p.Phe554Ser) c.1634T>C (p.Phe545Ser) c.1076T>C (p.Phe359Ser) c.986T>C (p.Phe329Ser) | |
| 4 | g.72313704A>T | CA357430758 | ADAMTS3 | c.1718T>A (p.Phe573Tyr) c.1661T>A (p.Phe554Tyr) c.1634T>A (p.Phe545Tyr) c.1076T>A (p.Phe359Tyr) c.986T>A (p.Phe329Tyr) | |
| 4 | g.72313705A>C | CA357430759 | ADAMTS3 | c.1717T>G (p.Phe573Val) c.1660T>G (p.Phe554Val) c.1633T>G (p.Phe545Val) c.1075T>G (p.Phe359Val) c.985T>G (p.Phe329Val) | |
| 4 | g.72313705A>G | CA357430760 | ADAMTS3 | c.1717T>C (p.Phe573Leu) c.1660T>C (p.Phe554Leu) c.1633T>C (p.Phe545Leu) c.1075T>C (p.Phe359Leu) c.985T>C (p.Phe329Leu) | |
| 4 | g.72313705A>T | CA357430761 | ADAMTS3 | c.1717T>A (p.Phe573Ile) c.1660T>A (p.Phe554Ile) c.1633T>A (p.Phe545Ile) c.1075T>A (p.Phe359Ile) c.985T>A (p.Phe329Ile) | |
| 4 | g.72313706A>C | CA439879102 | ADAMTS3 | c.1716T>G (p.Arg572=) c.1659T>G (p.Arg553=) c.1632T>G (p.Arg544=) c.1074T>G (p.Arg358=) c.984T>G (p.Arg328=) | |
| 4 | g.72313706A>G | CA439879103 | ADAMTS3 | c.1716T>C (p.Arg572=) c.1659T>C (p.Arg553=) c.1632T>C (p.Arg544=) c.1074T>C (p.Arg358=) c.984T>C (p.Arg328=) | |
| 4 | g.72313706A>T | CA439879104 | ADAMTS3 | c.1716T>A (p.Arg572=) c.1659T>A (p.Arg553=) c.1632T>A (p.Arg544=) c.1074T>A (p.Arg358=) c.984T>A (p.Arg328=) | |
| 4 | g.72313707C>A | CA357430762 | ADAMTS3 | c.1715G>T (p.Arg572Leu) c.1658G>T (p.Arg553Leu) c.1631G>T (p.Arg544Leu) c.1073G>T (p.Arg358Leu) c.983G>T (p.Arg328Leu) | |
| 4 | g.72313707C= | CA1467599838 | ADAMTS3 | c.1715G= (p.Arg572=) c.1658G= (p.Arg553=) c.1631G= (p.Arg544=) c.1073G= (p.Arg358=) c.983G= (p.Arg328=) | |
| 4 | g.72313707C>G | CA357430763 | ADAMTS3 | c.1715G>C (p.Arg572Pro) c.1658G>C (p.Arg553Pro) c.1631G>C (p.Arg544Pro) c.1073G>C (p.Arg358Pro) c.983G>C (p.Arg328Pro) | |
| 4 | g.72313707C>T | CA2956872 | ADAMTS3 | c.1715G>A (p.Arg572His) c.1658G>A (p.Arg553His) c.1631G>A (p.Arg544His) c.1073G>A (p.Arg358His) c.983G>A (p.Arg328His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.72313708G>A | CA2956873 | ADAMTS3 | c.1714C>T (p.Arg572Cys) c.1657C>T (p.Arg553Cys) c.1630C>T (p.Arg544Cys) c.1072C>T (p.Arg358Cys) c.982C>T (p.Arg328Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.72313708G>C | CA2956874 | ADAMTS3 | c.1714C>G (p.Arg572Gly) c.1657C>G (p.Arg553Gly) c.1630C>G (p.Arg544Gly) c.1072C>G (p.Arg358Gly) c.982C>G (p.Arg328Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313708G= | CA1467599844 | ADAMTS3 | c.1714C= (p.Arg572=) c.1657C= (p.Arg553=) c.1630C= (p.Arg544=) c.1072C= (p.Arg358=) c.982C= (p.Arg328=) | |
| 4 | g.72313708G>T | CA357430764 | ADAMTS3 | c.1714C>A (p.Arg572Ser) c.1657C>A (p.Arg553Ser) c.1630C>A (p.Arg544Ser) c.1072C>A (p.Arg358Ser) c.982C>A (p.Arg328Ser) | |
| 4 | g.72313709A>C | CA439879105 | ADAMTS3 | c.1713T>G (p.Val571=) c.1656T>G (p.Val552=) c.1629T>G (p.Val543=) c.1071T>G (p.Val357=) c.981T>G (p.Val327=) | |
| 4 | g.72313709A>G | CA439879106 | ADAMTS3 | c.1713T>C (p.Val571=) c.1656T>C (p.Val552=) c.1629T>C (p.Val543=) c.1071T>C (p.Val357=) c.981T>C (p.Val327=) | |
| 4 | g.72313709A>T | CA439879107 | ADAMTS3 | c.1713T>A (p.Val571=) c.1656T>A (p.Val552=) c.1629T>A (p.Val543=) c.1071T>A (p.Val357=) c.981T>A (p.Val327=) | |
| 4 | g.72313710A>C | CA357430765 | ADAMTS3 | c.1712T>G (p.Val571Gly) c.1655T>G (p.Val552Gly) c.1628T>G (p.Val543Gly) c.1070T>G (p.Val357Gly) c.980T>G (p.Val327Gly) | |
| 4 | g.72313710A>G | CA357430766 | ADAMTS3 | c.1712T>C (p.Val571Ala) c.1655T>C (p.Val552Ala) c.1628T>C (p.Val543Ala) c.1070T>C (p.Val357Ala) c.980T>C (p.Val327Ala) | |
| 4 | g.72313710A>T | CA357430767 | ADAMTS3 | c.1712T>A (p.Val571Asp) c.1655T>A (p.Val552Asp) c.1628T>A (p.Val543Asp) c.1070T>A (p.Val357Asp) c.980T>A (p.Val327Asp) | |
| 4 | g.72313711C>A | CA357430768 | ADAMTS3 | c.1711G>T (p.Val571Phe) c.1654G>T (p.Val552Phe) c.1627G>T (p.Val543Phe) c.1069G>T (p.Val357Phe) c.979G>T (p.Val327Phe) | |
| 4 | g.72313711C>G | CA357430769 | ADAMTS3 | c.1711G>C (p.Val571Leu) c.1654G>C (p.Val552Leu) c.1627G>C (p.Val543Leu) c.1069G>C (p.Val357Leu) c.979G>C (p.Val327Leu) | |
| 4 | g.72313711C>T | CA357430770 | ADAMTS3 | c.1711G>A (p.Val571Ile) c.1654G>A (p.Val552Ile) c.1627G>A (p.Val543Ile) c.1069G>A (p.Val357Ile) c.979G>A (p.Val327Ile) | |
| 4 | g.72313712A>C | CA439879108 | ADAMTS3 | c.1710T>G (p.Gly570=) c.1653T>G (p.Gly551=) c.1626T>G (p.Gly542=) c.1068T>G (p.Gly356=) c.978T>G (p.Gly326=) | |
| 4 | g.72313712A>G | CA439879110 | ADAMTS3 | c.1710T>C (p.Gly570=) c.1653T>C (p.Gly551=) c.1626T>C (p.Gly542=) c.1068T>C (p.Gly356=) c.978T>C (p.Gly326=) | |
| 4 | g.72313712A>T | CA439879109 | ADAMTS3 | c.1710T>A (p.Gly570=) c.1653T>A (p.Gly551=) c.1626T>A (p.Gly542=) c.1068T>A (p.Gly356=) c.978T>A (p.Gly326=) | |
| 4 | g.72313713C>A | CA357430771 | ADAMTS3 | c.1709G>T (p.Gly570Val) c.1652G>T (p.Gly551Val) c.1625G>T (p.Gly542Val) c.1067G>T (p.Gly356Val) c.977G>T (p.Gly326Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.72313713C= | CA1467599848 | ADAMTS3 | c.1709G= (p.Gly570=) c.1652G= (p.Gly551=) c.1625G= (p.Gly542=) c.1067G= (p.Gly356=) c.977G= (p.Gly326=) | |
| 4 | g.72313713C>G | CA357430772 | ADAMTS3 | c.1709G>C (p.Gly570Ala) c.1652G>C (p.Gly551Ala) c.1625G>C (p.Gly542Ala) c.1067G>C (p.Gly356Ala) c.977G>C (p.Gly326Ala) | |
| 4 | g.72313713C>T | CA357430773 | ADAMTS3 | c.1709G>A (p.Gly570Asp) c.1652G>A (p.Gly551Asp) c.1625G>A (p.Gly542Asp) c.1067G>A (p.Gly356Asp) c.977G>A (p.Gly326Asp) | dbSNP |
| 4 | g.72313714C>A | CA357430776 | ADAMTS3 | c.1708G>T (p.Gly570Cys) c.1651G>T (p.Gly551Cys) c.1624G>T (p.Gly542Cys) c.1066G>T (p.Gly356Cys) c.976G>T (p.Gly326Cys) | |
| 4 | g.72313714C>G | CA357430775 | ADAMTS3 | c.1708G>C (p.Gly570Arg) c.1651G>C (p.Gly551Arg) c.1624G>C (p.Gly542Arg) c.1066G>C (p.Gly356Arg) c.976G>C (p.Gly326Arg) | |
| 4 | g.72313714C>T | CA357430774 | ADAMTS3 | c.1708G>A (p.Gly570Ser) c.1651G>A (p.Gly551Ser) c.1624G>A (p.Gly542Ser) c.1066G>A (p.Gly356Ser) c.976G>A (p.Gly326Ser) | |
| 4 | g.72313715A>C | CA439879111 | ADAMTS3 | c.1707T>G (p.Thr569=) c.1650T>G (p.Thr550=) c.1623T>G (p.Thr541=) c.1065T>G (p.Thr355=) c.975T>G (p.Thr325=) | gnomAD v4 |
| 4 | g.72313715A>G | CA439879112 | ADAMTS3 | c.1707T>C (p.Thr569=) c.1650T>C (p.Thr550=) c.1623T>C (p.Thr541=) c.1065T>C (p.Thr355=) c.975T>C (p.Thr325=) | gnomAD v4 |
| 4 | g.72313715A>T | CA439879113 | ADAMTS3 | c.1707T>A (p.Thr569=) c.1650T>A (p.Thr550=) c.1623T>A (p.Thr541=) c.1065T>A (p.Thr355=) c.975T>A (p.Thr325=) | gnomAD v4 |
| 4 | g.72313716G>A | CA2956875 | ADAMTS3 | c.1706C>T (p.Thr569Ile) c.1649C>T (p.Thr550Ile) c.1622C>T (p.Thr541Ile) c.1064C>T (p.Thr355Ile) c.974C>T (p.Thr325Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313716G>C | CA357430777 | ADAMTS3 | c.1706C>G (p.Thr569Ser) c.1649C>G (p.Thr550Ser) c.1622C>G (p.Thr541Ser) c.1064C>G (p.Thr355Ser) c.974C>G (p.Thr325Ser) | |
| 4 | g.72313716G= | CA1467599852 | ADAMTS3 | c.1706C= (p.Thr569=) c.1649C= (p.Thr550=) c.1622C= (p.Thr541=) c.1064C= (p.Thr355=) c.974C= (p.Thr325=) | |
| 4 | g.72313716G>T | CA357430778 | ADAMTS3 | c.1706C>A (p.Thr569Asn) c.1649C>A (p.Thr550Asn) c.1622C>A (p.Thr541Asn) c.1064C>A (p.Thr355Asn) c.974C>A (p.Thr325Asn) | |
| 4 | g.72313717T>A | CA357430779 | ADAMTS3 | c.1705A>T (p.Thr569Ser) c.1648A>T (p.Thr550Ser) c.1621A>T (p.Thr541Ser) c.1063A>T (p.Thr355Ser) c.973A>T (p.Thr325Ser) | |
| 4 | g.72313717T>C | CA357430780 | ADAMTS3 | c.1705A>G (p.Thr569Ala) c.1648A>G (p.Thr550Ala) c.1621A>G (p.Thr541Ala) c.1063A>G (p.Thr355Ala) c.973A>G (p.Thr325Ala) | |
| 4 | g.72313717T>G | CA357430781 | ADAMTS3 | c.1705A>C (p.Thr569Pro) c.1648A>C (p.Thr550Pro) c.1621A>C (p.Thr541Pro) c.1063A>C (p.Thr355Pro) c.973A>C (p.Thr325Pro) | |
| 4 | g.72313718T>A | CA439879114 | ADAMTS3 | c.1704A>T (p.Gly568=) c.1647A>T (p.Gly549=) c.1620A>T (p.Gly540=) c.1062A>T (p.Gly354=) c.972A>T (p.Gly324=) | |
| 4 | g.72313718T>C | CA439879115 | ADAMTS3 | c.1704A>G (p.Gly568=) c.1647A>G (p.Gly549=) c.1620A>G (p.Gly540=) c.1062A>G (p.Gly354=) c.972A>G (p.Gly324=) | |
| 4 | g.72313718T>G | CA439879116 | ADAMTS3 | c.1704A>C (p.Gly568=) c.1647A>C (p.Gly549=) c.1620A>C (p.Gly540=) c.1062A>C (p.Gly354=) c.972A>C (p.Gly324=) | |
| 4 | g.72313719C>A | CA357430782 | ADAMTS3 | c.1703G>T (p.Gly568Val) c.1646G>T (p.Gly549Val) c.1619G>T (p.Gly540Val) c.1061G>T (p.Gly354Val) c.971G>T (p.Gly324Val) | gnomAD v4 |
| 4 | g.72313719C>G | CA357430783 | ADAMTS3 | c.1703G>C (p.Gly568Ala) c.1646G>C (p.Gly549Ala) c.1619G>C (p.Gly540Ala) c.1061G>C (p.Gly354Ala) c.971G>C (p.Gly324Ala) | |
| 4 | g.72313719C>T | CA357430784 | ADAMTS3 | c.1703G>A (p.Gly568Glu) c.1646G>A (p.Gly549Glu) c.1619G>A (p.Gly540Glu) c.1061G>A (p.Gly354Glu) c.971G>A (p.Gly324Glu) | |
| 4 | g.72313720C>A | CA357430785 | ADAMTS3 | c.1702G>T (p.Gly568Ter) c.1645G>T (p.Gly549Ter) c.1618G>T (p.Gly540Ter) c.1060G>T (p.Gly354Ter) c.970G>T (p.Gly324Ter) | |
| 4 | g.72313720C>G | CA357430786 | ADAMTS3 | c.1702G>C (p.Gly568Arg) c.1645G>C (p.Gly549Arg) c.1618G>C (p.Gly540Arg) c.1060G>C (p.Gly354Arg) c.970G>C (p.Gly324Arg) | |
| 4 | g.72313720C>T | CA357430787 | ADAMTS3 | c.1702G>A (p.Gly568Arg) c.1645G>A (p.Gly549Arg) c.1618G>A (p.Gly540Arg) c.1060G>A (p.Gly354Arg) c.970G>A (p.Gly324Arg) | |
| 4 | g.72313721A>C | CA357430789 | ADAMTS3 | c.1701T>G (p.Cys567Trp) c.1644T>G (p.Cys548Trp) c.1617T>G (p.Cys539Trp) c.1059T>G (p.Cys353Trp) c.969T>G (p.Cys323Trp) | gnomAD v4 |
| 4 | g.72313721A>G | CA439879117 | ADAMTS3 | c.1701T>C (p.Cys567=) c.1644T>C (p.Cys548=) c.1617T>C (p.Cys539=) c.1059T>C (p.Cys353=) c.969T>C (p.Cys323=) | dbSNP |
| 4 | g.72313721A>T | CA357430788 | ADAMTS3 | c.1701T>A (p.Cys567Ter) c.1644T>A (p.Cys548Ter) c.1617T>A (p.Cys539Ter) c.1059T>A (p.Cys353Ter) c.969T>A (p.Cys323Ter) | |
| 4 | g.72313722C>A | CA357430790 | ADAMTS3 | c.1700G>T (p.Cys567Phe) c.1643G>T (p.Cys548Phe) c.1616G>T (p.Cys539Phe) c.1058G>T (p.Cys353Phe) c.968G>T (p.Cys323Phe) | gnomAD v4 |
| 4 | g.72313722C= | CA1467599856 | ADAMTS3 | c.1700G= (p.Cys567=) c.1643G= (p.Cys548=) c.1616G= (p.Cys539=) c.1058G= (p.Cys353=) c.968G= (p.Cys323=) | |
| 4 | g.72313722C>G | CA357430791 | ADAMTS3 | c.1700G>C (p.Cys567Ser) c.1643G>C (p.Cys548Ser) c.1616G>C (p.Cys539Ser) c.1058G>C (p.Cys353Ser) c.968G>C (p.Cys323Ser) | |
| 4 | g.72313722C>T | CA2956876 | ADAMTS3 | c.1700G>A (p.Cys567Tyr) c.1643G>A (p.Cys548Tyr) c.1616G>A (p.Cys539Tyr) c.1058G>A (p.Cys353Tyr) c.968G>A (p.Cys323Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 4 | g.72313723A= | CA1467599858 | ADAMTS3 | c.1699T= (p.Cys567=) c.1642T= (p.Cys548=) c.1615T= (p.Cys539=) c.1057T= (p.Cys353=) c.967T= (p.Cys323=) | |
| 4 | g.72313723A>C | CA357430792 | ADAMTS3 | c.1699T>G (p.Cys567Gly) c.1642T>G (p.Cys548Gly) c.1615T>G (p.Cys539Gly) c.1057T>G (p.Cys353Gly) c.967T>G (p.Cys323Gly) | |
| 4 | g.72313723A>G | CA2956877 | ADAMTS3 | c.1699T>C (p.Cys567Arg) c.1642T>C (p.Cys548Arg) c.1615T>C (p.Cys539Arg) c.1057T>C (p.Cys353Arg) c.967T>C (p.Cys323Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313723A>T | CA357430793 | ADAMTS3 | c.1699T>A (p.Cys567Ser) c.1642T>A (p.Cys548Ser) c.1615T>A (p.Cys539Ser) c.1057T>A (p.Cys353Ser) c.967T>A (p.Cys323Ser) | |
| 4 | g.72313724T>A | CA439879118 | ADAMTS3 | c.1698A>T (p.Thr566=) c.1641A>T (p.Thr547=) c.1614A>T (p.Thr538=) c.1056A>T (p.Thr352=) c.966A>T (p.Thr322=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313724T>C | CA439879119 | ADAMTS3 | c.1698A>G (p.Thr566=) c.1641A>G (p.Thr547=) c.1614A>G (p.Thr538=) c.1056A>G (p.Thr352=) c.966A>G (p.Thr322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313724T>G | CA439879120 | ADAMTS3 | c.1698A>C (p.Thr566=) c.1641A>C (p.Thr547=) c.1614A>C (p.Thr538=) c.1056A>C (p.Thr352=) c.966A>C (p.Thr322=) | |
| 4 | g.72313724T= | CA1467599864 | ADAMTS3 | c.1698A= (p.Thr566=) c.1641A= (p.Thr547=) c.1614A= (p.Thr538=) c.1056A= (p.Thr352=) c.966A= (p.Thr322=) | |
| 4 | g.72313725G>A | CA2956878 | ADAMTS3 | c.1697C>T (p.Thr566Ile) c.1640C>T (p.Thr547Ile) c.1613C>T (p.Thr538Ile) c.1055C>T (p.Thr352Ile) c.965C>T (p.Thr322Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313725G>C | CA357430794 | ADAMTS3 | c.1697C>G (p.Thr566Arg) c.1640C>G (p.Thr547Arg) c.1613C>G (p.Thr538Arg) c.1055C>G (p.Thr352Arg) c.965C>G (p.Thr322Arg) | |
| 4 | g.72313725G= | CA1467599870 | ADAMTS3 | c.1697C= (p.Thr566=) c.1640C= (p.Thr547=) c.1613C= (p.Thr538=) c.1055C= (p.Thr352=) c.965C= (p.Thr322=) | |
| 4 | g.72313725G>T | CA357430795 | ADAMTS3 | c.1697C>A (p.Thr566Lys) c.1640C>A (p.Thr547Lys) c.1613C>A (p.Thr538Lys) c.1055C>A (p.Thr352Lys) c.965C>A (p.Thr322Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313726T>A | CA357430796 | ADAMTS3 | c.1696A>T (p.Thr566Ser) c.1639A>T (p.Thr547Ser) c.1612A>T (p.Thr538Ser) c.1054A>T (p.Thr352Ser) c.964A>T (p.Thr322Ser) | |
| 4 | g.72313726T>C | CA357430797 | ADAMTS3 | c.1696A>G (p.Thr566Ala) c.1639A>G (p.Thr547Ala) c.1612A>G (p.Thr538Ala) c.1054A>G (p.Thr352Ala) c.964A>G (p.Thr322Ala) | COSMIC |
| 4 | g.72313726T>G | CA357430798 | ADAMTS3 | c.1696A>C (p.Thr566Pro) c.1639A>C (p.Thr547Pro) c.1612A>C (p.Thr538Pro) c.1054A>C (p.Thr352Pro) c.964A>C (p.Thr322Pro) | |
| 4 | g.72313727C>A | CA439879121 | ADAMTS3 | c.1695G>T (p.Arg565=) c.1638G>T (p.Arg546=) c.1611G>T (p.Arg537=) c.1053G>T (p.Arg351=) c.963G>T (p.Arg321=) | |
| 4 | g.72313727C>G | CA439879122 | ADAMTS3 | c.1695G>C (p.Arg565=) c.1638G>C (p.Arg546=) c.1611G>C (p.Arg537=) c.1053G>C (p.Arg351=) c.963G>C (p.Arg321=) | |
| 4 | g.72313727C>T | CA439879123 | ADAMTS3 | c.1695G>A (p.Arg565=) c.1638G>A (p.Arg546=) c.1611G>A (p.Arg537=) c.1053G>A (p.Arg351=) c.963G>A (p.Arg321=) | |
| 4 | g.72313728C>A | CA357430800 | ADAMTS3 | c.1694G>T (p.Arg565Leu) c.1637G>T (p.Arg546Leu) c.1610G>T (p.Arg537Leu) c.1052G>T (p.Arg351Leu) c.962G>T (p.Arg321Leu) | |
| 4 | g.72313728C= | CA1467599874 | ADAMTS3 | c.1694G= (p.Arg565=) c.1637G= (p.Arg546=) c.1610G= (p.Arg537=) c.1052G= (p.Arg351=) c.962G= (p.Arg321=) | |
| 4 | g.72313728C>G | CA357430799 | ADAMTS3 | c.1694G>C (p.Arg565Pro) c.1637G>C (p.Arg546Pro) c.1610G>C (p.Arg537Pro) c.1052G>C (p.Arg351Pro) c.962G>C (p.Arg321Pro) | |
| 4 | g.72313728C>T | CA2956879 | ADAMTS3 | c.1694G>A (p.Arg565Gln) c.1637G>A (p.Arg546Gln) c.1610G>A (p.Arg537Gln) c.1052G>A (p.Arg351Gln) c.962G>A (p.Arg321Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313729G>A | CA2956880 | ADAMTS3 | c.1693C>T (p.Arg565Trp) c.1636C>T (p.Arg546Trp) c.1609C>T (p.Arg537Trp) c.1051C>T (p.Arg351Trp) c.961C>T (p.Arg321Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313729G>C | CA357430801 | ADAMTS3 | c.1693C>G (p.Arg565Gly) c.1636C>G (p.Arg546Gly) c.1609C>G (p.Arg537Gly) c.1051C>G (p.Arg351Gly) c.961C>G (p.Arg321Gly) | gnomAD v4 |
| 4 | g.72313729G= | CA1467599880 | ADAMTS3 | c.1693C= (p.Arg565=) c.1636C= (p.Arg546=) c.1609C= (p.Arg537=) c.1051C= (p.Arg351=) c.961C= (p.Arg321=) | |
| 4 | g.72313729G>T | CA439879124 | ADAMTS3 | c.1693C>A (p.Arg565=) c.1636C>A (p.Arg546=) c.1609C>A (p.Arg537=) c.1051C>A (p.Arg351=) c.961C>A (p.Arg321=) | |
| 4 | g.72313730A>C | CA439879125 | ADAMTS3 | c.1692T>G (p.Ser564=) c.1635T>G (p.Ser545=) c.1608T>G (p.Ser536=) c.1050T>G (p.Ser350=) c.960T>G (p.Ser320=) | |
| 4 | g.72313730A>G | CA439879126 | ADAMTS3 | c.1692T>C (p.Ser564=) c.1635T>C (p.Ser545=) c.1608T>C (p.Ser536=) c.1050T>C (p.Ser350=) c.960T>C (p.Ser320=) | |
| 4 | g.72313730A>T | CA439879127 | ADAMTS3 | c.1692T>A (p.Ser564=) c.1635T>A (p.Ser545=) c.1608T>A (p.Ser536=) c.1050T>A (p.Ser350=) c.960T>A (p.Ser320=) | |
| 4 | g.72313731G>A | CA357430802 | ADAMTS3 | c.1691C>T (p.Ser564Phe) c.1634C>T (p.Ser545Phe) c.1607C>T (p.Ser536Phe) c.1049C>T (p.Ser350Phe) c.959C>T (p.Ser320Phe) | |
| 4 | g.72313731G>C | CA357430803 | ADAMTS3 | c.1691C>G (p.Ser564Cys) c.1634C>G (p.Ser545Cys) c.1607C>G (p.Ser536Cys) c.1049C>G (p.Ser350Cys) c.959C>G (p.Ser320Cys) | |
| 4 | g.72313731G>T | CA357430804 | ADAMTS3 | c.1691C>A (p.Ser564Tyr) c.1634C>A (p.Ser545Tyr) c.1607C>A (p.Ser536Tyr) c.1049C>A (p.Ser350Tyr) c.959C>A (p.Ser320Tyr) | COSMIC |
| 4 | g.72313732A>C | CA357430805 | ADAMTS3 | c.1690T>G (p.Ser564Ala) c.1633T>G (p.Ser545Ala) c.1606T>G (p.Ser536Ala) c.1048T>G (p.Ser350Ala) c.958T>G (p.Ser320Ala) | |
| 4 | g.72313732A>G | CA357430806 | ADAMTS3 | c.1690T>C (p.Ser564Pro) c.1633T>C (p.Ser545Pro) c.1606T>C (p.Ser536Pro) c.1048T>C (p.Ser350Pro) c.958T>C (p.Ser320Pro) | |
| 4 | g.72313732A>T | CA357430807 | ADAMTS3 | c.1690T>A (p.Ser564Thr) c.1633T>A (p.Ser545Thr) c.1606T>A (p.Ser536Thr) c.1048T>A (p.Ser350Thr) c.958T>A (p.Ser320Thr) | |
| 4 | g.72313733A>C | CA357430808 | ADAMTS3 | c.1689T>G (p.Cys563Trp) c.1632T>G (p.Cys544Trp) c.1605T>G (p.Cys535Trp) c.1047T>G (p.Cys349Trp) c.957T>G (p.Cys319Trp) | |
| 4 | g.72313733A>G | CA439879128 | ADAMTS3 | c.1689T>C (p.Cys563=) c.1632T>C (p.Cys544=) c.1605T>C (p.Cys535=) c.1047T>C (p.Cys349=) c.957T>C (p.Cys319=) | |
| 4 | g.72313733A>T | CA357430809 | ADAMTS3 | c.1689T>A (p.Cys563Ter) c.1632T>A (p.Cys544Ter) c.1605T>A (p.Cys535Ter) c.1047T>A (p.Cys349Ter) c.957T>A (p.Cys319Ter) | |
| 4 | g.72313734C>A | CA357430810 | ADAMTS3 | c.1688G>T (p.Cys563Phe) c.1631G>T (p.Cys544Phe) c.1604G>T (p.Cys535Phe) c.1046G>T (p.Cys349Phe) c.956G>T (p.Cys319Phe) | |
| 4 | g.72313734C>G | CA357430811 | ADAMTS3 | c.1688G>C (p.Cys563Ser) c.1631G>C (p.Cys544Ser) c.1604G>C (p.Cys535Ser) c.1046G>C (p.Cys349Ser) c.956G>C (p.Cys319Ser) | COSMIC |
| 4 | g.72313734C>T | CA357430812 | ADAMTS3 | c.1688G>A (p.Cys563Tyr) c.1631G>A (p.Cys544Tyr) c.1604G>A (p.Cys535Tyr) c.1046G>A (p.Cys349Tyr) c.956G>A (p.Cys319Tyr) | gnomAD v4 |
| 4 | g.72313735A>C | CA357430815 | ADAMTS3 | c.1687T>G (p.Cys563Gly) c.1630T>G (p.Cys544Gly) c.1603T>G (p.Cys535Gly) c.1045T>G (p.Cys349Gly) c.955T>G (p.Cys319Gly) | |
| 4 | g.72313735A>G | CA357430814 | ADAMTS3 | c.1687T>C (p.Cys563Arg) c.1630T>C (p.Cys544Arg) c.1603T>C (p.Cys535Arg) c.1045T>C (p.Cys349Arg) c.955T>C (p.Cys319Arg) | |
| 4 | g.72313735A>T | CA357430813 | ADAMTS3 | c.1687T>A (p.Cys563Ser) c.1630T>A (p.Cys544Ser) c.1603T>A (p.Cys535Ser) c.1045T>A (p.Cys349Ser) c.955T>A (p.Cys319Ser) | |
| 4 | g.72313736G>A | CA439879132 | ADAMTS3 | c.1686C>T (p.Ser562=) c.1629C>T (p.Ser543=) c.1602C>T (p.Ser534=) c.1044C>T (p.Ser348=) c.954C>T (p.Ser318=) | gnomAD v4 |
| 4 | g.72313736G>C | CA439879131 | ADAMTS3 | c.1686C>G (p.Ser562=) c.1629C>G (p.Ser543=) c.1602C>G (p.Ser534=) c.1044C>G (p.Ser348=) c.954C>G (p.Ser318=) | |
| 4 | g.72313736G>T | CA439879130 | ADAMTS3 | c.1686C>A (p.Ser562=) c.1629C>A (p.Ser543=) c.1602C>A (p.Ser534=) c.1044C>A (p.Ser348=) c.954C>A (p.Ser318=) | |
| 4 | g.72313737G>A | CA357430816 | ADAMTS3 | c.1685C>T (p.Ser562Phe) c.1628C>T (p.Ser543Phe) c.1601C>T (p.Ser534Phe) c.1043C>T (p.Ser348Phe) c.953C>T (p.Ser318Phe) | gnomAD v4 |
| 4 | g.72313737G>C | CA357430817 | ADAMTS3 | c.1685C>G (p.Ser562Cys) c.1628C>G (p.Ser543Cys) c.1601C>G (p.Ser534Cys) c.1043C>G (p.Ser348Cys) c.953C>G (p.Ser318Cys) | |
| 4 | g.72313737G>T | CA357430818 | ADAMTS3 | c.1685C>A (p.Ser562Tyr) c.1628C>A (p.Ser543Tyr) c.1601C>A (p.Ser534Tyr) c.1043C>A (p.Ser348Tyr) c.953C>A (p.Ser318Tyr) | |
| 4 | g.72313738A>C | CA357430819 | ADAMTS3 | c.1684T>G (p.Ser562Ala) c.1627T>G (p.Ser543Ala) c.1600T>G (p.Ser534Ala) c.1042T>G (p.Ser348Ala) c.952T>G (p.Ser318Ala) | |
| 4 | g.72313738A>G | CA357430820 | ADAMTS3 | c.1684T>C (p.Ser562Pro) c.1627T>C (p.Ser543Pro) c.1600T>C (p.Ser534Pro) c.1042T>C (p.Ser348Pro) c.952T>C (p.Ser318Pro) | |
| 4 | g.72313738A>T | CA357430821 | ADAMTS3 | c.1684T>A (p.Ser562Thr) c.1627T>A (p.Ser543Thr) c.1600T>A (p.Ser534Thr) c.1042T>A (p.Ser348Thr) c.952T>A (p.Ser318Thr) | |
| 4 | g.72313739G>A | CA439879133 | ADAMTS3 | c.1683C>T (p.Gly561=) c.1626C>T (p.Gly542=) c.1599C>T (p.Gly533=) c.1041C>T (p.Gly347=) c.951C>T (p.Gly317=) | |
| 4 | g.72313739G>C | CA439879135 | ADAMTS3 | c.1683C>G (p.Gly561=) c.1626C>G (p.Gly542=) c.1599C>G (p.Gly533=) c.1041C>G (p.Gly347=) c.951C>G (p.Gly317=) | |
| 4 | g.72313739G>T | CA439879134 | ADAMTS3 | c.1683C>A (p.Gly561=) c.1626C>A (p.Gly542=) c.1599C>A (p.Gly533=) c.1041C>A (p.Gly347=) c.951C>A (p.Gly317=) | |
| 4 | g.72313740C>A | CA357430822 | ADAMTS3 | c.1682G>T (p.Gly561Val) c.1625G>T (p.Gly542Val) c.1598G>T (p.Gly533Val) c.1040G>T (p.Gly347Val) c.950G>T (p.Gly317Val) | |
| 4 | g.72313740C= | CA1467599882 | ADAMTS3 | c.1682G= (p.Gly561=) c.1625G= (p.Gly542=) c.1598G= (p.Gly533=) c.1040G= (p.Gly347=) c.950G= (p.Gly317=) | |
| 4 | g.72313740C>G | CA357430823 | ADAMTS3 | c.1682G>C (p.Gly561Ala) c.1625G>C (p.Gly542Ala) c.1598G>C (p.Gly533Ala) c.1040G>C (p.Gly347Ala) c.950G>C (p.Gly317Ala) | dbSNP |
| 4 | g.72313740C>T | CA357430824 | ADAMTS3 | c.1682G>A (p.Gly561Asp) c.1625G>A (p.Gly542Asp) c.1598G>A (p.Gly533Asp) c.1040G>A (p.Gly347Asp) c.950G>A (p.Gly317Asp) | |
| 4 | g.72313741C>A | CA357430825 | ADAMTS3 | c.1681G>T (p.Gly561Cys) c.1624G>T (p.Gly542Cys) c.1597G>T (p.Gly533Cys) c.1039G>T (p.Gly347Cys) c.949G>T (p.Gly317Cys) | |
| 4 | g.72313741C>G | CA357430826 | ADAMTS3 | c.1681G>C (p.Gly561Arg) c.1624G>C (p.Gly542Arg) c.1597G>C (p.Gly533Arg) c.1039G>C (p.Gly347Arg) c.949G>C (p.Gly317Arg) | |
| 4 | g.72313741C>T | CA357430827 | ADAMTS3 | c.1681G>A (p.Gly561Ser) c.1624G>A (p.Gly542Ser) c.1597G>A (p.Gly533Ser) c.1039G>A (p.Gly347Ser) c.949G>A (p.Gly317Ser) | |
| 4 | g.72313742A>C | CA357430828 | ADAMTS3 | c.1680T>G (p.Phe560Leu) c.1623T>G (p.Phe541Leu) c.1596T>G (p.Phe532Leu) c.1038T>G (p.Phe346Leu) c.948T>G (p.Phe316Leu) | |
| 4 | g.72313742A>G | CA439879136 | ADAMTS3 | c.1680T>C (p.Phe560=) c.1623T>C (p.Phe541=) c.1596T>C (p.Phe532=) c.1038T>C (p.Phe346=) c.948T>C (p.Phe316=) | dbSNP |
| 4 | g.72313742A>T | CA357430829 | ADAMTS3 | c.1680T>A (p.Phe560Leu) c.1623T>A (p.Phe541Leu) c.1596T>A (p.Phe532Leu) c.1038T>A (p.Phe346Leu) c.948T>A (p.Phe316Leu) | |
| 4 | g.72313743A= | CA1467599886 | ADAMTS3 | c.1679T= (p.Phe560=) c.1622T= (p.Phe541=) c.1595T= (p.Phe532=) c.1037T= (p.Phe346=) c.947T= (p.Phe316=) | |
| 4 | g.72313743A>C | CA357430831 | ADAMTS3 | c.1679T>G (p.Phe560Cys) c.1622T>G (p.Phe541Cys) c.1595T>G (p.Phe532Cys) c.1037T>G (p.Phe346Cys) c.947T>G (p.Phe316Cys) | |
| 4 | g.72313743A>G | CA357430832 | ADAMTS3 | c.1679T>C (p.Phe560Ser) c.1622T>C (p.Phe541Ser) c.1595T>C (p.Phe532Ser) c.1037T>C (p.Phe346Ser) c.947T>C (p.Phe316Ser) | dbSNP |
| 4 | g.72313743A>T | CA357430830 | ADAMTS3 | c.1679T>A (p.Phe560Tyr) c.1622T>A (p.Phe541Tyr) c.1595T>A (p.Phe532Tyr) c.1037T>A (p.Phe346Tyr) c.947T>A (p.Phe316Tyr) | |
| 4 | g.72313744A>C | CA357430833 | ADAMTS3 | c.1678T>G (p.Phe560Val) c.1621T>G (p.Phe541Val) c.1594T>G (p.Phe532Val) c.1036T>G (p.Phe346Val) c.946T>G (p.Phe316Val) | |
| 4 | g.72313744A>G | CA357430834 | ADAMTS3 | c.1678T>C (p.Phe560Leu) c.1621T>C (p.Phe541Leu) c.1594T>C (p.Phe532Leu) c.1036T>C (p.Phe346Leu) c.946T>C (p.Phe316Leu) | |
| 4 | g.72313744A>T | CA357430835 | ADAMTS3 | c.1678T>A (p.Phe560Ile) c.1621T>A (p.Phe541Ile) c.1594T>A (p.Phe532Ile) c.1036T>A (p.Phe346Ile) c.946T>A (p.Phe316Ile) | |
| 4 | g.72313745T>A | CA357430836 | ADAMTS3 | c.1677A>T (p.Lys559Asn) c.1620A>T (p.Lys540Asn) c.1593A>T (p.Lys531Asn) c.1035A>T (p.Lys345Asn) c.945A>T (p.Lys315Asn) | |
| 4 | g.72313745T>C | CA2956881 | ADAMTS3 | c.1677A>G (p.Lys559=) c.1620A>G (p.Lys540=) c.1593A>G (p.Lys531=) c.1035A>G (p.Lys345=) c.945A>G (p.Lys315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313745T>G | CA357430837 | ADAMTS3 | c.1677A>C (p.Lys559Asn) c.1620A>C (p.Lys540Asn) c.1593A>C (p.Lys531Asn) c.1035A>C (p.Lys345Asn) c.945A>C (p.Lys315Asn) | gnomAD v4 |
| 4 | g.72313745T= | CA1467599889 | ADAMTS3 | c.1677A= (p.Lys559=) c.1620A= (p.Lys540=) c.1593A= (p.Lys531=) c.1035A= (p.Lys345=) c.945A= (p.Lys315=) | |
| 4 | g.72313746T>A | CA357430838 | ADAMTS3 | c.1676A>T (p.Lys559Ile) c.1619A>T (p.Lys540Ile) c.1592A>T (p.Lys531Ile) c.1034A>T (p.Lys345Ile) c.944A>T (p.Lys315Ile) | |
| 4 | g.72313746T>C | CA357430839 | ADAMTS3 | c.1676A>G (p.Lys559Arg) c.1619A>G (p.Lys540Arg) c.1592A>G (p.Lys531Arg) c.1034A>G (p.Lys345Arg) c.944A>G (p.Lys315Arg) | |
| 4 | g.72313746T>G | CA357430840 | ADAMTS3 | c.1676A>C (p.Lys559Thr) c.1619A>C (p.Lys540Thr) c.1592A>C (p.Lys531Thr) c.1034A>C (p.Lys345Thr) c.944A>C (p.Lys315Thr) | |
| 4 | g.72313747T>A | CA357430841 | ADAMTS3 | c.1675A>T (p.Lys559Ter) c.1618A>T (p.Lys540Ter) c.1591A>T (p.Lys531Ter) c.1033A>T (p.Lys345Ter) c.943A>T (p.Lys315Ter) | |
| 4 | g.72313747T>C | CA357430842 | ADAMTS3 | c.1675A>G (p.Lys559Glu) c.1618A>G (p.Lys540Glu) c.1591A>G (p.Lys531Glu) c.1033A>G (p.Lys345Glu) c.943A>G (p.Lys315Glu) | |
| 4 | g.72313747T>G | CA357430843 | ADAMTS3 | c.1675A>C (p.Lys559Gln) c.1618A>C (p.Lys540Gln) c.1591A>C (p.Lys531Gln) c.1033A>C (p.Lys345Gln) c.943A>C (p.Lys315Gln) | |
| 4 | g.72313748A>C | CA439879137 | ADAMTS3 | c.1674T>G (p.Thr558=) c.1617T>G (p.Thr539=) c.1590T>G (p.Thr530=) c.1032T>G (p.Thr344=) c.942T>G (p.Thr314=) | |
| 4 | g.72313748A>G | CA439879138 | ADAMTS3 | c.1674T>C (p.Thr558=) c.1617T>C (p.Thr539=) c.1590T>C (p.Thr530=) c.1032T>C (p.Thr344=) c.942T>C (p.Thr314=) | |
| 4 | g.72313748A>T | CA439879139 | ADAMTS3 | c.1674T>A (p.Thr558=) c.1617T>A (p.Thr539=) c.1590T>A (p.Thr530=) c.1032T>A (p.Thr344=) c.942T>A (p.Thr314=) | |
| 4 | g.72313749G>A | CA2956882 | ADAMTS3 | c.1673C>T (p.Thr558Ile) c.1616C>T (p.Thr539Ile) c.1589C>T (p.Thr530Ile) c.1031C>T (p.Thr344Ile) c.941C>T (p.Thr314Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.72313749G>C | CA357430844 | ADAMTS3 | c.1673C>G (p.Thr558Ser) c.1616C>G (p.Thr539Ser) c.1589C>G (p.Thr530Ser) c.1031C>G (p.Thr344Ser) c.941C>G (p.Thr314Ser) | |
| 4 | g.72313749G= | CA1467599895 | ADAMTS3 | c.1673C= (p.Thr558=) c.1616C= (p.Thr539=) c.1589C= (p.Thr530=) c.1031C= (p.Thr344=) c.941C= (p.Thr314=) | |
| 4 | g.72313749G>T | CA357430845 | ADAMTS3 | c.1673C>A (p.Thr558Asn) c.1616C>A (p.Thr539Asn) c.1589C>A (p.Thr530Asn) c.1031C>A (p.Thr344Asn) c.941C>A (p.Thr314Asn) | |
| 4 | g.72313750T>A | CA357430846 | ADAMTS3 | c.1672A>T (p.Thr558Ser) c.1615A>T (p.Thr539Ser) c.1588A>T (p.Thr530Ser) c.1030A>T (p.Thr344Ser) c.940A>T (p.Thr314Ser) | |
| 4 | g.72313750T>C | CA357430847 | ADAMTS3 | c.1672A>G (p.Thr558Ala) c.1615A>G (p.Thr539Ala) c.1588A>G (p.Thr530Ala) c.1030A>G (p.Thr344Ala) c.940A>G (p.Thr314Ala) | gnomAD v4 |
| 4 | g.72313750T>G | CA357430848 | ADAMTS3 | c.1672A>C (p.Thr558Pro) c.1615A>C (p.Thr539Pro) c.1588A>C (p.Thr530Pro) c.1030A>C (p.Thr344Pro) c.940A>C (p.Thr314Pro) | |
| 4 | g.72313751C>A | CA357430849 | ADAMTS3 | c.1671G>T (p.Trp557Cys) c.1614G>T (p.Trp538Cys) c.1587G>T (p.Trp529Cys) c.1029G>T (p.Trp343Cys) c.939G>T (p.Trp313Cys) | |
| 4 | g.72313751C>G | CA357430850 | ADAMTS3 | c.1671G>C (p.Trp557Cys) c.1614G>C (p.Trp538Cys) c.1587G>C (p.Trp529Cys) c.1029G>C (p.Trp343Cys) c.939G>C (p.Trp313Cys) | |
| 4 | g.72313751C>T | CA357430851 | ADAMTS3 | c.1671G>A (p.Trp557Ter) c.1614G>A (p.Trp538Ter) c.1587G>A (p.Trp529Ter) c.1029G>A (p.Trp343Ter) c.939G>A (p.Trp313Ter) | |
| 4 | g.72313752C>A | CA357430852 | ADAMTS3 | c.1670G>T (p.Trp557Leu) c.1613G>T (p.Trp538Leu) c.1586G>T (p.Trp529Leu) c.1028G>T (p.Trp343Leu) c.938G>T (p.Trp313Leu) | |
| 4 | g.72313752C>G | CA357430853 | ADAMTS3 | c.1670G>C (p.Trp557Ser) c.1613G>C (p.Trp538Ser) c.1586G>C (p.Trp529Ser) c.1028G>C (p.Trp343Ser) c.938G>C (p.Trp313Ser) | gnomAD v4 |
| 4 | g.72313752C>T | CA357430854 | ADAMTS3 | c.1670G>A (p.Trp557Ter) c.1613G>A (p.Trp538Ter) c.1586G>A (p.Trp529Ter) c.1028G>A (p.Trp343Ter) c.938G>A (p.Trp313Ter) | |
| 4 | g.72313753A>C | CA357430855 | ADAMTS3 | c.1669T>G (p.Trp557Gly) c.1612T>G (p.Trp538Gly) c.1585T>G (p.Trp529Gly) c.1027T>G (p.Trp343Gly) c.937T>G (p.Trp313Gly) | |
| 4 | g.72313753A>G | CA357430856 | ADAMTS3 | c.1669T>C (p.Trp557Arg) c.1612T>C (p.Trp538Arg) c.1585T>C (p.Trp529Arg) c.1027T>C (p.Trp343Arg) c.937T>C (p.Trp313Arg) | |
| 4 | g.72313753A>T | CA357430857 | ADAMTS3 | c.1669T>A (p.Trp557Arg) c.1612T>A (p.Trp538Arg) c.1585T>A (p.Trp529Arg) c.1027T>A (p.Trp343Arg) c.937T>A (p.Trp313Arg) | |
| 4 | g.72313754T>A | CA439879141 | ADAMTS3 | c.1668A>T (p.Ser556=) c.1611A>T (p.Ser537=) c.1584A>T (p.Ser528=) c.1026A>T (p.Ser342=) c.936A>T (p.Ser312=) | |
| 4 | g.72313754T>C | CA439879142 | ADAMTS3 | c.1668A>G (p.Ser556=) c.1611A>G (p.Ser537=) c.1584A>G (p.Ser528=) c.1026A>G (p.Ser342=) c.936A>G (p.Ser312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313754T>G | CA2956883 | ADAMTS3 | c.1668A>C (p.Ser556=) c.1611A>C (p.Ser537=) c.1584A>C (p.Ser528=) c.1026A>C (p.Ser342=) c.936A>C (p.Ser312=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313754T= | CA1467599901 | ADAMTS3 | c.1668A= (p.Ser556=) c.1611A= (p.Ser537=) c.1584A= (p.Ser528=) c.1026A= (p.Ser342=) c.936A= (p.Ser312=) | |
| 4 | g.72313755G>A | CA357430859 | ADAMTS3 | c.1667C>T (p.Ser556Leu) c.1610C>T (p.Ser537Leu) c.1583C>T (p.Ser528Leu) c.1025C>T (p.Ser342Leu) c.935C>T (p.Ser312Leu) | |
| 4 | g.72313755G>C | CA357430858 | ADAMTS3 | c.1667C>G (p.Ser556Ter) c.1610C>G (p.Ser537Ter) c.1583C>G (p.Ser528Ter) c.1025C>G (p.Ser342Ter) c.935C>G (p.Ser312Ter) | |
| 4 | g.72313755G>T | CA357430860 | ADAMTS3 | c.1667C>A (p.Ser556Ter) c.1610C>A (p.Ser537Ter) c.1583C>A (p.Ser528Ter) c.1025C>A (p.Ser342Ter) c.935C>A (p.Ser312Ter) | |
| 4 | g.72313756A= | CA1467599905 | ADAMTS3 | c.1666T= (p.Ser556=) c.1609T= (p.Ser537=) c.1582T= (p.Ser528=) c.1024T= (p.Ser342=) c.934T= (p.Ser312=) | |
| 4 | g.72313756A>C | CA357430861 | ADAMTS3 | c.1666T>G (p.Ser556Ala) c.1609T>G (p.Ser537Ala) c.1582T>G (p.Ser528Ala) c.1024T>G (p.Ser342Ala) c.934T>G (p.Ser312Ala) | |
| 4 | g.72313756A>G | CA99549857 | ADAMTS3 | c.1666T>C (p.Ser556Pro) c.1609T>C (p.Ser537Pro) c.1582T>C (p.Ser528Pro) c.1024T>C (p.Ser342Pro) c.934T>C (p.Ser312Pro) | dbSNP |
| 4 | g.72313756A>T | CA357430862 | ADAMTS3 | c.1666T>A (p.Ser556Thr) c.1609T>A (p.Ser537Thr) c.1582T>A (p.Ser528Thr) c.1024T>A (p.Ser342Thr) c.934T>A (p.Ser312Thr) | gnomAD v4 |
| 4 | g.72313757C>A | CA2956884 | ADAMTS3 | c.1665G>T (p.Gly555=) c.1608G>T (p.Gly536=) c.1581G>T (p.Gly527=) c.1023G>T (p.Gly341=) c.933G>T (p.Gly311=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.72313757C= | CA1467599909 | ADAMTS3 | c.1665G= (p.Gly555=) c.1608G= (p.Gly536=) c.1581G= (p.Gly527=) c.1023G= (p.Gly341=) c.933G= (p.Gly311=) | |
| 4 | g.72313757C>G | CA439879143 | ADAMTS3 | c.1665G>C (p.Gly555=) c.1608G>C (p.Gly536=) c.1581G>C (p.Gly527=) c.1023G>C (p.Gly341=) c.933G>C (p.Gly311=) | gnomAD v4 |
| 4 | g.72313757C>T | CA99549858 | ADAMTS3 | c.1665G>A (p.Gly555=) c.1608G>A (p.Gly536=) c.1581G>A (p.Gly527=) c.1023G>A (p.Gly341=) c.933G>A (p.Gly311=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313758C>A | CA357430863 | ADAMTS3 | c.1664G>T (p.Gly555Val) c.1607G>T (p.Gly536Val) c.1580G>T (p.Gly527Val) c.1022G>T (p.Gly341Val) c.932G>T (p.Gly311Val) | gnomAD v4 |
| 4 | g.72313758C>G | CA357430864 | ADAMTS3 | c.1664G>C (p.Gly555Ala) c.1607G>C (p.Gly536Ala) c.1580G>C (p.Gly527Ala) c.1022G>C (p.Gly341Ala) c.932G>C (p.Gly311Ala) | |
| 4 | g.72313758C>T | CA357430865 | ADAMTS3 | c.1664G>A (p.Gly555Glu) c.1607G>A (p.Gly536Glu) c.1580G>A (p.Gly527Glu) c.1022G>A (p.Gly341Glu) c.932G>A (p.Gly311Glu) | |
| 4 | g.72313759C>A | CA357430866 | ADAMTS3 | c.1663G>T (p.Gly555Trp) c.1606G>T (p.Gly536Trp) c.1579G>T (p.Gly527Trp) c.1021G>T (p.Gly341Trp) c.931G>T (p.Gly311Trp) | COSMIC |
| 4 | g.72313759C>G | CA357430867 | ADAMTS3 | c.1663G>C (p.Gly555Arg) c.1606G>C (p.Gly536Arg) c.1579G>C (p.Gly527Arg) c.1021G>C (p.Gly341Arg) c.931G>C (p.Gly311Arg) | |
| 4 | g.72313759C>T | CA357430868 | ADAMTS3 | c.1663G>A (p.Gly555Arg) c.1606G>A (p.Gly536Arg) c.1579G>A (p.Gly527Arg) c.1021G>A (p.Gly341Arg) c.931G>A (p.Gly311Arg) | |
| 4 | g.72313760C>A | CA357430869 | ADAMTS3 | c.1662G>T (p.Trp554Cys) c.1605G>T (p.Trp535Cys) c.1578G>T (p.Trp526Cys) c.1020G>T (p.Trp340Cys) c.930G>T (p.Trp310Cys) | |
| 4 | g.72313760C>G | CA357430870 | ADAMTS3 | c.1662G>C (p.Trp554Cys) c.1605G>C (p.Trp535Cys) c.1578G>C (p.Trp526Cys) c.1020G>C (p.Trp340Cys) c.930G>C (p.Trp310Cys) | |
| 4 | g.72313760C>T | CA357430871 | ADAMTS3 | c.1662G>A (p.Trp554Ter) c.1605G>A (p.Trp535Ter) c.1578G>A (p.Trp526Ter) c.1020G>A (p.Trp340Ter) c.930G>A (p.Trp310Ter) | gnomAD v4 |
| 4 | g.72313761C>A | CA357430874 | ADAMTS3 | c.1661G>T (p.Trp554Leu) c.1604G>T (p.Trp535Leu) c.1577G>T (p.Trp526Leu) c.1019G>T (p.Trp340Leu) c.929G>T (p.Trp310Leu) | |
| 4 | g.72313761C>G | CA357430873 | ADAMTS3 | c.1661G>C (p.Trp554Ser) c.1604G>C (p.Trp535Ser) c.1577G>C (p.Trp526Ser) c.1019G>C (p.Trp340Ser) c.929G>C (p.Trp310Ser) | |
| 4 | g.72313761C>T | CA357430872 | ADAMTS3 | c.1661G>A (p.Trp554Ter) c.1604G>A (p.Trp535Ter) c.1577G>A (p.Trp526Ter) c.1019G>A (p.Trp340Ter) c.929G>A (p.Trp310Ter) | |
| 4 | g.72313762A>C | CA357430875 | ADAMTS3 | c.1660T>G (p.Trp554Gly) c.1603T>G (p.Trp535Gly) c.1576T>G (p.Trp526Gly) c.1018T>G (p.Trp340Gly) c.928T>G (p.Trp310Gly) | |
| 4 | g.72313762A>G | CA357430876 | ADAMTS3 | c.1660T>C (p.Trp554Arg) c.1603T>C (p.Trp535Arg) c.1576T>C (p.Trp526Arg) c.1018T>C (p.Trp340Arg) c.928T>C (p.Trp310Arg) | gnomAD v4 |
| 4 | g.72313762A>T | CA357430877 | ADAMTS3 | c.1660T>A (p.Trp554Arg) c.1603T>A (p.Trp535Arg) c.1576T>A (p.Trp526Arg) c.1018T>A (p.Trp340Arg) c.928T>A (p.Trp310Arg) | |
| 4 | g.72313763A= | CA1467599914 | ADAMTS3 | c.1659T= (p.Asn553=) c.1602T= (p.Asn534=) c.1575T= (p.Asn525=) c.1017T= (p.Asn339=) c.927T= (p.Asn309=) | |
| 4 | g.72313763A>C | CA357430878 | ADAMTS3 | c.1659T>G (p.Asn553Lys) c.1602T>G (p.Asn534Lys) c.1575T>G (p.Asn525Lys) c.1017T>G (p.Asn339Lys) c.927T>G (p.Asn309Lys) | |
| 4 | g.72313763A>G | CA439879144 | ADAMTS3 | c.1659T>C (p.Asn553=) c.1602T>C (p.Asn534=) c.1575T>C (p.Asn525=) c.1017T>C (p.Asn339=) c.927T>C (p.Asn309=) | dbSNP gnomAD v4 |
| 4 | g.72313763A>T | CA357430879 | ADAMTS3 | c.1659T>A (p.Asn553Lys) c.1602T>A (p.Asn534Lys) c.1575T>A (p.Asn525Lys) c.1017T>A (p.Asn339Lys) c.927T>A (p.Asn309Lys) | |
| 4 | g.72313763_72313764delinsAT | CA1467599913 | ADAMTS3 | c.1658_1659delinsAT (p.Asn553=) c.1601_1602delinsAT (p.Asn534=) c.1574_1575delinsAT (p.Asn525=) c.1016_1017delinsAT (p.Asn339=) c.926_927delinsAT (p.Asn309=) | |
| 4 | g.72313764T>A | CA357430880 | ADAMTS3 | c.1658A>T (p.Asn553Ile) c.1601A>T (p.Asn534Ile) c.1574A>T (p.Asn525Ile) c.1016A>T (p.Asn339Ile) c.926A>T (p.Asn309Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313764T>C | CA2956885 | ADAMTS3 | c.1658A>G (p.Asn553Ser) c.1601A>G (p.Asn534Ser) c.1574A>G (p.Asn525Ser) c.1016A>G (p.Asn339Ser) c.926A>G (p.Asn309Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313764T>G | CA357430881 | ADAMTS3 | c.1658A>C (p.Asn553Thr) c.1601A>C (p.Asn534Thr) c.1574A>C (p.Asn525Thr) c.1016A>C (p.Asn339Thr) c.926A>C (p.Asn309Thr) | |
| 4 | g.72313764T= | CA1467599918 | ADAMTS3 | c.1658A= (p.Asn553=) c.1601A= (p.Asn534=) c.1574A= (p.Asn525=) c.1016A= (p.Asn339=) c.926A= (p.Asn309=) | |
| 4 | g.72313765del | CA552478950 | ADAMTS3 | c.1658del (p.Asn553IlefsTer?) c.1601del (p.Asn534IlefsTer?) c.1574del (p.Asn525IlefsTer?) c.1016del (p.Asn339IlefsTer?) c.926del (p.Asn309IlefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313765T>A | CA357430882 | ADAMTS3 | c.1657A>T (p.Asn553Tyr) c.1600A>T (p.Asn534Tyr) c.1573A>T (p.Asn525Tyr) c.1015A>T (p.Asn339Tyr) c.925A>T (p.Asn309Tyr) | |
| 4 | g.72313765T>C | CA357430883 | ADAMTS3 | c.1657A>G (p.Asn553Asp) c.1600A>G (p.Asn534Asp) c.1573A>G (p.Asn525Asp) c.1015A>G (p.Asn339Asp) c.925A>G (p.Asn309Asp) | |
| 4 | g.72313765T>G | CA357430884 | ADAMTS3 | c.1657A>C (p.Asn553His) c.1600A>C (p.Asn534His) c.1573A>C (p.Asn525His) c.1015A>C (p.Asn339His) c.925A>C (p.Asn309His) | |
| 4 | g.72313766G>A | CA439879147 | ADAMTS3 | c.1656C>T (p.Gly552=) c.1599C>T (p.Gly533=) c.1572C>T (p.Gly524=) c.1014C>T (p.Gly338=) c.924C>T (p.Gly308=) | dbSNP gnomAD v4 |
| 4 | g.72313766G>C | CA439879146 | ADAMTS3 | c.1656C>G (p.Gly552=) c.1599C>G (p.Gly533=) c.1572C>G (p.Gly524=) c.1014C>G (p.Gly338=) c.924C>G (p.Gly308=) | |
| 4 | g.72313766G= | CA1467599920 | ADAMTS3 | c.1656C= (p.Gly552=) c.1599C= (p.Gly533=) c.1572C= (p.Gly524=) c.1014C= (p.Gly338=) c.924C= (p.Gly308=) | |
| 4 | g.72313766G>T | CA439879145 | ADAMTS3 | c.1656C>A (p.Gly552=) c.1599C>A (p.Gly533=) c.1572C>A (p.Gly524=) c.1014C>A (p.Gly338=) c.924C>A (p.Gly308=) | gnomAD v4 |
| 4 | g.72313767C>A | CA357430885 | ADAMTS3 | c.1655G>T (p.Gly552Val) c.1598G>T (p.Gly533Val) c.1571G>T (p.Gly524Val) c.1013G>T (p.Gly338Val) c.923G>T (p.Gly308Val) | |
| 4 | g.72313767C= | CA1467599924 | ADAMTS3 | c.1655G= (p.Gly552=) c.1598G= (p.Gly533=) c.1571G= (p.Gly524=) c.1013G= (p.Gly338=) c.923G= (p.Gly308=) | |
| 4 | g.72313767C>G | CA357430886 | ADAMTS3 | c.1655G>C (p.Gly552Ala) c.1598G>C (p.Gly533Ala) c.1571G>C (p.Gly524Ala) c.1013G>C (p.Gly338Ala) c.923G>C (p.Gly308Ala) | |
| 4 | g.72313767C>T | CA357430887 | ADAMTS3 | c.1655G>A (p.Gly552Asp) c.1598G>A (p.Gly533Asp) c.1571G>A (p.Gly524Asp) c.1013G>A (p.Gly338Asp) c.923G>A (p.Gly308Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313768C>A | CA357430888 | ADAMTS3 | c.1654G>T (p.Gly552Cys) c.1597G>T (p.Gly533Cys) c.1570G>T (p.Gly524Cys) c.1012G>T (p.Gly338Cys) c.922G>T (p.Gly308Cys) | |
| 4 | g.72313768C= | CA1467599930 | ADAMTS3 | c.1654G= (p.Gly552=) c.1597G= (p.Gly533=) c.1570G= (p.Gly524=) c.1012G= (p.Gly338=) c.922G= (p.Gly308=) | |
| 4 | g.72313768C>G | CA357430889 | ADAMTS3 | c.1654G>C (p.Gly552Arg) c.1597G>C (p.Gly533Arg) c.1570G>C (p.Gly524Arg) c.1012G>C (p.Gly338Arg) c.922G>C (p.Gly308Arg) | |
| 4 | g.72313768C>T | CA2956886 | ADAMTS3 | c.1654G>A (p.Gly552Ser) c.1597G>A (p.Gly533Ser) c.1570G>A (p.Gly524Ser) c.1012G>A (p.Gly338Ser) c.922G>A (p.Gly308Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313769A= | CA1467599932 | ADAMTS3 | c.1653T= (p.Asp551=) c.1596T= (p.Asp532=) c.1569T= (p.Asp523=) c.1011T= (p.Asp337=) c.921T= (p.Asp307=) | |
| 4 | g.72313769A>C | CA357430890 | ADAMTS3 | c.1653T>G (p.Asp551Glu) c.1596T>G (p.Asp532Glu) c.1569T>G (p.Asp523Glu) c.1011T>G (p.Asp337Glu) c.921T>G (p.Asp307Glu) | |
| 4 | g.72313769A>G | CA2956887 | ADAMTS3 | c.1653T>C (p.Asp551=) c.1596T>C (p.Asp532=) c.1569T>C (p.Asp523=) c.1011T>C (p.Asp337=) c.921T>C (p.Asp307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.72313769A>T | CA357430891 | ADAMTS3 | c.1653T>A (p.Asp551Glu) c.1596T>A (p.Asp532Glu) c.1569T>A (p.Asp523Glu) c.1011T>A (p.Asp337Glu) c.921T>A (p.Asp307Glu) | |
| 4 | g.72313770T>A | CA357430892 | ADAMTS3 | c.1652A>T (p.Asp551Val) c.1595A>T (p.Asp532Val) c.1568A>T (p.Asp523Val) c.1010A>T (p.Asp337Val) c.920A>T (p.Asp307Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.72313770T>C | CA357430893 | ADAMTS3 | c.1652A>G (p.Asp551Gly) c.1595A>G (p.Asp532Gly) c.1568A>G (p.Asp523Gly) c.1010A>G (p.Asp337Gly) c.920A>G (p.Asp307Gly) | |
| 4 | g.72313770T>G | CA357430894 | ADAMTS3 | c.1652A>C (p.Asp551Ala) c.1595A>C (p.Asp532Ala) c.1568A>C (p.Asp523Ala) c.1010A>C (p.Asp337Ala) c.920A>C (p.Asp307Ala) | |
| 4 | g.72313770T= | CA1467599935 | ADAMTS3 | c.1652A= (p.Asp551=) c.1595A= (p.Asp532=) c.1568A= (p.Asp523=) c.1010A= (p.Asp337=) c.920A= (p.Asp307=) | |
| 4 | g.72313771C>A | CA357430895 | ADAMTS3 | c.1651G>T (p.Asp551Tyr) c.1594G>T (p.Asp532Tyr) c.1567G>T (p.Asp523Tyr) c.1009G>T (p.Asp337Tyr) c.919G>T (p.Asp307Tyr) | |
| 4 | g.72313771C= | CA1467599937 | ADAMTS3 | c.1651G= (p.Asp551=) c.1594G= (p.Asp532=) c.1567G= (p.Asp523=) c.1009G= (p.Asp337=) c.919G= (p.Asp307=) | |
| 4 | g.72313771C>G | CA357430896 | ADAMTS3 | c.1651G>C (p.Asp551His) c.1594G>C (p.Asp532His) c.1567G>C (p.Asp523His) c.1009G>C (p.Asp337His) c.919G>C (p.Asp307His) | dbSNP |
| 4 | g.72313771C>T | CA357430897 | ADAMTS3 | c.1651G>A (p.Asp551Asn) c.1594G>A (p.Asp532Asn) c.1567G>A (p.Asp523Asn) c.1009G>A (p.Asp337Asn) c.919G>A (p.Asp307Asn) | |
| 4 | g.72313772T>A | CA357430898 | ADAMTS3 | c.1650A>T (p.Gln550His) c.1593A>T (p.Gln531His) c.1566A>T (p.Gln522His) c.1008A>T (p.Gln336His) c.918A>T (p.Gln306His) | |
| 4 | g.72313772T>C | CA2956888 | ADAMTS3 | c.1650A>G (p.Gln550=) c.1593A>G (p.Gln531=) c.1566A>G (p.Gln522=) c.1008A>G (p.Gln336=) c.918A>G (p.Gln306=) | dbSNP ExAC gnomAD v2 |
| 4 | g.72313772T>G | CA357430899 | ADAMTS3 | c.1650A>C (p.Gln550His) c.1593A>C (p.Gln531His) c.1566A>C (p.Gln522His) c.1008A>C (p.Gln336His) c.918A>C (p.Gln306His) | dbSNP |
| 4 | g.72313772T= | CA1467599941 | ADAMTS3 | c.1650A= (p.Gln550=) c.1593A= (p.Gln531=) c.1566A= (p.Gln522=) c.1008A= (p.Gln336=) c.918A= (p.Gln306=) | |
| 4 | g.72313773T>A | CA357430901 | ADAMTS3 | c.1649A>T (p.Gln550Leu) c.1592A>T (p.Gln531Leu) c.1565A>T (p.Gln522Leu) c.1007A>T (p.Gln336Leu) c.917A>T (p.Gln306Leu) | |
| 4 | g.72313773T>C | CA357430902 | ADAMTS3 | c.1649A>G (p.Gln550Arg) c.1592A>G (p.Gln531Arg) c.1565A>G (p.Gln522Arg) c.1007A>G (p.Gln336Arg) c.917A>G (p.Gln306Arg) | |
| 4 | g.72313773T>G | CA357430900 | ADAMTS3 | c.1649A>C (p.Gln550Pro) c.1592A>C (p.Gln531Pro) c.1565A>C (p.Gln522Pro) c.1007A>C (p.Gln336Pro) c.917A>C (p.Gln306Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313773T= | CA1467599944 | ADAMTS3 | c.1649A= (p.Gln550=) c.1592A= (p.Gln531=) c.1565A= (p.Gln522=) c.1007A= (p.Gln336=) c.917A= (p.Gln306=) | |
| 4 | g.72313774G>A | CA357430903 | ADAMTS3 | c.1648C>T (p.Gln550Ter) c.1591C>T (p.Gln531Ter) c.1564C>T (p.Gln522Ter) c.1006C>T (p.Gln336Ter) c.916C>T (p.Gln306Ter) | |
| 4 | g.72313774G>C | CA357430904 | ADAMTS3 | c.1648C>G (p.Gln550Glu) c.1591C>G (p.Gln531Glu) c.1564C>G (p.Gln522Glu) c.1006C>G (p.Gln336Glu) c.916C>G (p.Gln306Glu) | |
| 4 | g.72313774G>T | CA357430905 | ADAMTS3 | c.1648C>A (p.Gln550Lys) c.1591C>A (p.Gln531Lys) c.1564C>A (p.Gln522Lys) c.1006C>A (p.Gln336Lys) c.916C>A (p.Gln306Lys) | |
| 4 | g.72313775T>A | CA357430906 | ADAMTS3 | c.1647A>T (p.Lys549Asn) c.1590A>T (p.Lys530Asn) c.1563A>T (p.Lys521Asn) c.1005A>T (p.Lys335Asn) c.915A>T (p.Lys305Asn) | |
| 4 | g.72313775T>C | CA439879148 | ADAMTS3 | c.1647A>G (p.Lys549=) c.1590A>G (p.Lys530=) c.1563A>G (p.Lys521=) c.1005A>G (p.Lys335=) c.915A>G (p.Lys305=) | gnomAD v4 |
| 4 | g.72313775T>G | CA357430907 | ADAMTS3 | c.1647A>C (p.Lys549Asn) c.1590A>C (p.Lys530Asn) c.1563A>C (p.Lys521Asn) c.1005A>C (p.Lys335Asn) c.915A>C (p.Lys305Asn) | |
| 4 | g.72313776T>A | CA357430910 | ADAMTS3 | c.1646A>T (p.Lys549Ile) c.1589A>T (p.Lys530Ile) c.1562A>T (p.Lys521Ile) c.1004A>T (p.Lys335Ile) c.914A>T (p.Lys305Ile) | |
| 4 | g.72313776T>C | CA357430908 | ADAMTS3 | c.1646A>G (p.Lys549Arg) c.1589A>G (p.Lys530Arg) c.1562A>G (p.Lys521Arg) c.1004A>G (p.Lys335Arg) c.914A>G (p.Lys305Arg) | |
| 4 | g.72313776T>G | CA357430909 | ADAMTS3 | c.1646A>C (p.Lys549Thr) c.1589A>C (p.Lys530Thr) c.1562A>C (p.Lys521Thr) c.1004A>C (p.Lys335Thr) c.914A>C (p.Lys305Thr) | |
| 4 | g.72313777T>A | CA357430911 | ADAMTS3 | c.1645A>T (p.Lys549Ter) c.1588A>T (p.Lys530Ter) c.1561A>T (p.Lys521Ter) c.1003A>T (p.Lys335Ter) c.913A>T (p.Lys305Ter) | |
| 4 | g.72313777T>C | CA357430912 | ADAMTS3 | c.1645A>G (p.Lys549Glu) c.1588A>G (p.Lys530Glu) c.1561A>G (p.Lys521Glu) c.1003A>G (p.Lys335Glu) c.913A>G (p.Lys305Glu) | |
| 4 | g.72313777T>G | CA357430913 | ADAMTS3 | c.1645A>C (p.Lys549Gln) c.1588A>C (p.Lys530Gln) c.1561A>C (p.Lys521Gln) c.1003A>C (p.Lys335Gln) c.913A>C (p.Lys305Gln) | |
| 4 | g.72313778T>A | CA357430914 | ADAMTS3 | c.1644A>T (p.Gln548His) c.1587A>T (p.Gln529His) c.1560A>T (p.Gln520His) c.1002A>T (p.Gln334His) c.912A>T (p.Gln304His) | |
| 4 | g.72313778T>C | CA439879149 | ADAMTS3 | c.1644A>G (p.Gln548=) c.1587A>G (p.Gln529=) c.1560A>G (p.Gln520=) c.1002A>G (p.Gln334=) c.912A>G (p.Gln304=) | dbSNP |
| 4 | g.72313778T>G | CA357430915 | ADAMTS3 | c.1644A>C (p.Gln548His) c.1587A>C (p.Gln529His) c.1560A>C (p.Gln520His) c.1002A>C (p.Gln334His) c.912A>C (p.Gln304His) | |
| 4 | g.72313779T>A | CA357430916 | ADAMTS3 | c.1643A>T (p.Gln548Leu) c.1586A>T (p.Gln529Leu) c.1559A>T (p.Gln520Leu) c.1001A>T (p.Gln334Leu) c.911A>T (p.Gln304Leu) | |
| 4 | g.72313779T>C | CA357430918 | ADAMTS3 | c.1643A>G (p.Gln548Arg) c.1586A>G (p.Gln529Arg) c.1559A>G (p.Gln520Arg) c.1001A>G (p.Gln334Arg) c.911A>G (p.Gln304Arg) | dbSNP |
| 4 | g.72313779T>G | CA357430917 | ADAMTS3 | c.1643A>C (p.Gln548Pro) c.1586A>C (p.Gln529Pro) c.1559A>C (p.Gln520Pro) c.1001A>C (p.Gln334Pro) c.911A>C (p.Gln304Pro) | |
| 4 | g.72313779T= | CA1467599945 | ADAMTS3 | c.1643A= (p.Gln548=) c.1586A= (p.Gln529=) c.1559A= (p.Gln520=) c.1001A= (p.Gln334=) c.911A= (p.Gln304=) | |
| 4 | g.72313780G>A | CA357430919 | ADAMTS3 | c.1642C>T (p.Gln548Ter) c.1585C>T (p.Gln529Ter) c.1558C>T (p.Gln520Ter) c.1000C>T (p.Gln334Ter) c.910C>T (p.Gln304Ter) | |
| 4 | g.72313780G>C | CA357430921 | ADAMTS3 | c.1642C>G (p.Gln548Glu) c.1585C>G (p.Gln529Glu) c.1558C>G (p.Gln520Glu) c.1000C>G (p.Gln334Glu) c.910C>G (p.Gln304Glu) | |
| 4 | g.72313780G>T | CA357430920 | ADAMTS3 | c.1642C>A (p.Gln548Lys) c.1585C>A (p.Gln529Lys) c.1558C>A (p.Gln520Lys) c.1000C>A (p.Gln334Lys) c.910C>A (p.Gln304Lys) | |
| 4 | g.72313781C>A | CA357430922 | ADAMTS3 | c.1641G>T (p.Gln547His) c.1584G>T (p.Gln528His) c.1557G>T (p.Gln519His) c.999G>T (p.Gln333His) c.909G>T (p.Gln303His) | |
| 4 | g.72313781C>G | CA357430923 | ADAMTS3 | c.1641G>C (p.Gln547His) c.1584G>C (p.Gln528His) c.1557G>C (p.Gln519His) c.999G>C (p.Gln333His) c.909G>C (p.Gln303His) | |
| 4 | g.72313781C>T | CA439879150 | ADAMTS3 | c.1641G>A (p.Gln547=) c.1584G>A (p.Gln528=) c.1557G>A (p.Gln519=) c.999G>A (p.Gln333=) c.909G>A (p.Gln303=) | |
| 4 | g.72313782T>A | CA357430924 | ADAMTS3 | c.1640A>T (p.Gln547Leu) c.1583A>T (p.Gln528Leu) c.1556A>T (p.Gln519Leu) c.998A>T (p.Gln333Leu) c.908A>T (p.Gln303Leu) | |
| 4 | g.72313782T>C | CA357430925 | ADAMTS3 | c.1640A>G (p.Gln547Arg) c.1583A>G (p.Gln528Arg) c.1556A>G (p.Gln519Arg) c.998A>G (p.Gln333Arg) c.908A>G (p.Gln303Arg) | gnomAD v4 |
| 4 | g.72313782T>G | CA357430926 | ADAMTS3 | c.1640A>C (p.Gln547Pro) c.1583A>C (p.Gln528Pro) c.1556A>C (p.Gln519Pro) c.998A>C (p.Gln333Pro) c.908A>C (p.Gln303Pro) | |
| 4 | g.72313783G>A | CA357430927 | ADAMTS3 | c.1639C>T (p.Gln547Ter) c.1582C>T (p.Gln528Ter) c.1555C>T (p.Gln519Ter) c.997C>T (p.Gln333Ter) c.907C>T (p.Gln303Ter) | |
| 4 | g.72313783G>C | CA357430928 | ADAMTS3 | c.1639C>G (p.Gln547Glu) c.1582C>G (p.Gln528Glu) c.1555C>G (p.Gln519Glu) c.997C>G (p.Gln333Glu) c.907C>G (p.Gln303Glu) | |
| 4 | g.72313783G= | CA1467599948 | ADAMTS3 | c.1639C= (p.Gln547=) c.1582C= (p.Gln528=) c.1555C= (p.Gln519=) c.997C= (p.Gln333=) c.907C= (p.Gln303=) | |
| 4 | g.72313783G>T | CA357430929 | ADAMTS3 | c.1639C>A (p.Gln547Lys) c.1582C>A (p.Gln528Lys) c.1555C>A (p.Gln519Lys) c.997C>A (p.Gln333Lys) c.907C>A (p.Gln303Lys) | |
| 4 | g.72313784A>C | CA357430930 | ADAMTS3 | c.1638T>G (p.Asn546Lys) c.1581T>G (p.Asn527Lys) c.1554T>G (p.Asn518Lys) c.996T>G (p.Asn332Lys) c.906T>G (p.Asn302Lys) | |
| 4 | g.72313784A>G | CA439879151 | ADAMTS3 | c.1638T>C (p.Asn546=) c.1581T>C (p.Asn527=) c.1554T>C (p.Asn518=) c.996T>C (p.Asn332=) c.906T>C (p.Asn302=) | |
| 4 | g.72313784A>T | CA357430931 | ADAMTS3 | c.1638T>A (p.Asn546Lys) c.1581T>A (p.Asn527Lys) c.1554T>A (p.Asn518Lys) c.996T>A (p.Asn332Lys) c.906T>A (p.Asn302Lys) | |
| 4 | g.72313785_72313787dup | CA552478962 | ADAMTS3 | c.1636_1638dup (p.Asn546_Gln547insAsn) c.1579_1581dup (p.Asn527_Gln528insAsn) c.1552_1554dup (p.Asn518_Gln519insAsn) c.994_996dup (p.Asn332_Gln333insAsn) c.904_906dup (p.Asn302_Gln303insAsn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313785T>A | CA357430933 | ADAMTS3 | c.1637A>T (p.Asn546Ile) c.1580A>T (p.Asn527Ile) c.1553A>T (p.Asn518Ile) c.995A>T (p.Asn332Ile) c.905A>T (p.Asn302Ile) | |
| 4 | g.72313785T>C | CA2956889 | ADAMTS3 | c.1637A>G (p.Asn546Ser) c.1580A>G (p.Asn527Ser) c.1553A>G (p.Asn518Ser) c.995A>G (p.Asn332Ser) c.905A>G (p.Asn302Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313785T>G | CA357430932 | ADAMTS3 | c.1637A>C (p.Asn546Thr) c.1580A>C (p.Asn527Thr) c.1553A>C (p.Asn518Thr) c.995A>C (p.Asn332Thr) c.905A>C (p.Asn302Thr) | |
| 4 | g.72313785T= | CA1467599954 | ADAMTS3 | c.1637A= (p.Asn546=) c.1580A= (p.Asn527=) c.1553A= (p.Asn518=) c.995A= (p.Asn332=) c.905A= (p.Asn302=) | |
| 4 | g.72313786del | CA2706273113 | ADAMTS3 | c.1637del (p.Asn546IlefsTer?) c.1580del (p.Asn527IlefsTer?) c.1553del (p.Asn518IlefsTer?) c.995del (p.Asn332IlefsTer?) c.905del (p.Asn302IlefsTer?) | dbSNP |
| 4 | g.72313786T>A | CA357430934 | ADAMTS3 | c.1636A>T (p.Asn546Tyr) c.1579A>T (p.Asn527Tyr) c.1552A>T (p.Asn518Tyr) c.994A>T (p.Asn332Tyr) c.904A>T (p.Asn302Tyr) | dbSNP |
| 4 | g.72313786T>C | CA99549859 | ADAMTS3 | c.1636A>G (p.Asn546Asp) c.1579A>G (p.Asn527Asp) c.1552A>G (p.Asn518Asp) c.994A>G (p.Asn332Asp) c.904A>G (p.Asn302Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313786T>G | CA2956890 | ADAMTS3 | c.1636A>C (p.Asn546His) c.1579A>C (p.Asn527His) c.1552A>C (p.Asn518His) c.994A>C (p.Asn332His) c.904A>C (p.Asn302His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313786T= | CA1467599958 | ADAMTS3 | c.1636A= (p.Asn546=) c.1579A= (p.Asn527=) c.1552A= (p.Asn518=) c.994A= (p.Asn332=) c.904A= (p.Asn302=) | |
| 4 | g.72313787A>C | CA439879152 | ADAMTS3 | c.1635T>G (p.Ala545=) c.1578T>G (p.Ala526=) c.1551T>G (p.Ala517=) c.993T>G (p.Ala331=) c.903T>G (p.Ala301=) | |
| 4 | g.72313787A>G | CA439879153 | ADAMTS3 | c.1635T>C (p.Ala545=) c.1578T>C (p.Ala526=) c.1551T>C (p.Ala517=) c.993T>C (p.Ala331=) c.903T>C (p.Ala301=) | |
| 4 | g.72313787A>T | CA439879154 | ADAMTS3 | c.1635T>A (p.Ala545=) c.1578T>A (p.Ala526=) c.1551T>A (p.Ala517=) c.993T>A (p.Ala331=) c.903T>A (p.Ala301=) | |
| 4 | g.72313788G>A | CA357430935 | ADAMTS3 | c.1634C>T (p.Ala545Val) c.1577C>T (p.Ala526Val) c.1550C>T (p.Ala517Val) c.992C>T (p.Ala331Val) c.902C>T (p.Ala301Val) | |
| 4 | g.72313788G>C | CA2956891 | ADAMTS3 | c.1634C>G (p.Ala545Gly) c.1577C>G (p.Ala526Gly) c.1550C>G (p.Ala517Gly) c.992C>G (p.Ala331Gly) c.902C>G (p.Ala301Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.72313788G= | CA1467599962 | ADAMTS3 | c.1634C= (p.Ala545=) c.1577C= (p.Ala526=) c.1550C= (p.Ala517=) c.992C= (p.Ala331=) c.902C= (p.Ala301=) | |
| 4 | g.72313788G>T | CA357430936 | ADAMTS3 | c.1634C>A (p.Ala545Asp) c.1577C>A (p.Ala526Asp) c.1550C>A (p.Ala517Asp) c.992C>A (p.Ala331Asp) c.902C>A (p.Ala301Asp) | |
| 4 | g.72313789C>A | CA357430937 | ADAMTS3 | c.1633G>T (p.Ala545Ser) c.1576G>T (p.Ala526Ser) c.1549G>T (p.Ala517Ser) c.991G>T (p.Ala331Ser) c.901G>T (p.Ala301Ser) | dbSNP COSMIC |
| 4 | g.72313789C= | CA1467599966 | ADAMTS3 | c.1633G= (p.Ala545=) c.1576G= (p.Ala526=) c.1549G= (p.Ala517=) c.991G= (p.Ala331=) c.901G= (p.Ala301=) | |
| 4 | g.72313789C>G | CA357430938 | ADAMTS3 | c.1633G>C (p.Ala545Pro) c.1576G>C (p.Ala526Pro) c.1549G>C (p.Ala517Pro) c.991G>C (p.Ala331Pro) c.901G>C (p.Ala301Pro) | |
| 4 | g.72313789C>T | CA357430939 | ADAMTS3 | c.1633G>A (p.Ala545Thr) c.1576G>A (p.Ala526Thr) c.1549G>A (p.Ala517Thr) c.991G>A (p.Ala331Thr) c.901G>A (p.Ala301Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313790A= | CA1467599971 | ADAMTS3 | c.1632T= (p.Asn544=) c.1575T= (p.Asn525=) c.1548T= (p.Asn516=) c.990T= (p.Asn330=) c.900T= (p.Asn300=) | |
| 4 | g.72313790A>C | CA357430940 | ADAMTS3 | c.1632T>G (p.Asn544Lys) c.1575T>G (p.Asn525Lys) c.1548T>G (p.Asn516Lys) c.990T>G (p.Asn330Lys) c.900T>G (p.Asn300Lys) | |
| 4 | g.72313790A>G | CA439879155 | ADAMTS3 | c.1632T>C (p.Asn544=) c.1575T>C (p.Asn525=) c.1548T>C (p.Asn516=) c.990T>C (p.Asn330=) c.900T>C (p.Asn300=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.72313790A>T | CA357430941 | ADAMTS3 | c.1632T>A (p.Asn544Lys) c.1575T>A (p.Asn525Lys) c.1548T>A (p.Asn516Lys) c.990T>A (p.Asn330Lys) c.900T>A (p.Asn300Lys) | |
| 4 | g.72313791T>A | CA357430943 | ADAMTS3 | c.1631A>T (p.Asn544Ile) c.1574A>T (p.Asn525Ile) c.1547A>T (p.Asn516Ile) c.989A>T (p.Asn330Ile) c.899A>T (p.Asn300Ile) | |
| 4 | g.72313791T>C | CA357430944 | ADAMTS3 | c.1631A>G (p.Asn544Ser) c.1574A>G (p.Asn525Ser) c.1547A>G (p.Asn516Ser) c.989A>G (p.Asn330Ser) c.899A>G (p.Asn300Ser) | |
| 4 | g.72313791T>G | CA357430942 | ADAMTS3 | c.1631A>C (p.Asn544Thr) c.1574A>C (p.Asn525Thr) c.1547A>C (p.Asn516Thr) c.989A>C (p.Asn330Thr) c.899A>C (p.Asn300Thr) | |
| 4 | g.72313792T>A | CA357430945 | ADAMTS3 | c.1630A>T (p.Asn544Tyr) c.1573A>T (p.Asn525Tyr) c.1546A>T (p.Asn516Tyr) c.988A>T (p.Asn330Tyr) c.898A>T (p.Asn300Tyr) | |
| 4 | g.72313792T>C | CA357430946 | ADAMTS3 | c.1630A>G (p.Asn544Asp) c.1573A>G (p.Asn525Asp) c.1546A>G (p.Asn516Asp) c.988A>G (p.Asn330Asp) c.898A>G (p.Asn300Asp) | |
| 4 | g.72313792T>G | CA357430947 | ADAMTS3 | c.1630A>C (p.Asn544His) c.1573A>C (p.Asn525His) c.1546A>C (p.Asn516His) c.988A>C (p.Asn330His) c.898A>C (p.Asn300His) | |
| 4 | g.72313793C>A | CA357430948 | ADAMTS3 | c.1629G>T (p.Lys543Asn) c.1572G>T (p.Lys524Asn) c.1545G>T (p.Lys515Asn) c.987G>T (p.Lys329Asn) c.897G>T (p.Lys299Asn) | |
| 4 | g.72313793C>G | CA357430949 | ADAMTS3 | c.1629G>C (p.Lys543Asn) c.1572G>C (p.Lys524Asn) c.1545G>C (p.Lys515Asn) c.987G>C (p.Lys329Asn) c.897G>C (p.Lys299Asn) | |
| 4 | g.72313793C>T | CA439879156 | ADAMTS3 | c.1629G>A (p.Lys543=) c.1572G>A (p.Lys524=) c.1545G>A (p.Lys515=) c.987G>A (p.Lys329=) c.897G>A (p.Lys299=) | COSMIC |
| 4 | g.72313794T>A | CA357430952 | ADAMTS3 | c.1628A>T (p.Lys543Met) c.1571A>T (p.Lys524Met) c.1544A>T (p.Lys515Met) c.986A>T (p.Lys329Met) c.896A>T (p.Lys299Met) | |
| 4 | g.72313794T>C | CA357430951 | ADAMTS3 | c.1628A>G (p.Lys543Arg) c.1571A>G (p.Lys524Arg) c.1544A>G (p.Lys515Arg) c.986A>G (p.Lys329Arg) c.896A>G (p.Lys299Arg) | |
| 4 | g.72313794T>G | CA357430950 | ADAMTS3 | c.1628A>C (p.Lys543Thr) c.1571A>C (p.Lys524Thr) c.1544A>C (p.Lys515Thr) c.986A>C (p.Lys329Thr) c.896A>C (p.Lys299Thr) | |
| 4 | g.72313794_72313795insGTTTTATAAAGTGCA | CA2670948938 | ADAMTS3 | c.1627_1628insTGCACTTTATAAAAC (p.Lys543delinsMetHisPheIleLysGln) c.1570_1571insTGCACTTTATAAAAC (p.Lys524delinsMetHisPheIleLysGln) c.1543_1544insTGCACTTTATAAAAC (p.Lys515delinsMetHisPheIleLysGln) c.985_986insTGCACTTTATAAAAC (p.Lys329delinsMetHisPheIleLysGln) c.895_896insTGCACTTTATAAAAC (p.Lys299delinsMetHisPheIleLysGln) | gnomAD v4 |
| 4 | g.72313795T>A | CA357430953 | ADAMTS3 | c.1627A>T (p.Lys543Ter) c.1570A>T (p.Lys524Ter) c.1543A>T (p.Lys515Ter) c.985A>T (p.Lys329Ter) c.895A>T (p.Lys299Ter) | |
| 4 | g.72313795T>C | CA357430954 | ADAMTS3 | c.1627A>G (p.Lys543Glu) c.1570A>G (p.Lys524Glu) c.1543A>G (p.Lys515Glu) c.985A>G (p.Lys329Glu) c.895A>G (p.Lys299Glu) | |
| 4 | g.72313795T>G | CA357430955 | ADAMTS3 | c.1627A>C (p.Lys543Gln) c.1570A>C (p.Lys524Gln) c.1543A>C (p.Lys515Gln) c.985A>C (p.Lys329Gln) c.895A>C (p.Lys299Gln) | |
| 4 | g.72313796C>A | CA357430956 | ADAMTS3 | c.1626G>T (p.Trp542Cys) c.1569G>T (p.Trp523Cys) c.1542G>T (p.Trp514Cys) c.984G>T (p.Trp328Cys) c.894G>T (p.Trp298Cys) | |
| 4 | g.72313796C>G | CA357430957 | ADAMTS3 | c.1626G>C (p.Trp542Cys) c.1569G>C (p.Trp523Cys) c.1542G>C (p.Trp514Cys) c.984G>C (p.Trp328Cys) c.894G>C (p.Trp298Cys) | |
| 4 | g.72313796C>T | CA357430958 | ADAMTS3 | c.1626G>A (p.Trp542Ter) c.1569G>A (p.Trp523Ter) c.1542G>A (p.Trp514Ter) c.984G>A (p.Trp328Ter) c.894G>A (p.Trp298Ter) | |
| 4 | g.72313797C>A | CA357430959 | ADAMTS3 | c.1625G>T (p.Trp542Leu) c.1568G>T (p.Trp523Leu) c.1541G>T (p.Trp514Leu) c.983G>T (p.Trp328Leu) c.893G>T (p.Trp298Leu) | |
| 4 | g.72313797C>G | CA357430961 | ADAMTS3 | c.1625G>C (p.Trp542Ser) c.1568G>C (p.Trp523Ser) c.1541G>C (p.Trp514Ser) c.983G>C (p.Trp328Ser) c.893G>C (p.Trp298Ser) | |
| 4 | g.72313797C>T | CA357430960 | ADAMTS3 | c.1625G>A (p.Trp542Ter) c.1568G>A (p.Trp523Ter) c.1541G>A (p.Trp514Ter) c.983G>A (p.Trp328Ter) c.893G>A (p.Trp298Ter) | |
| 4 | g.72313798A= | CA1467599975 | ADAMTS3 | c.1624T= (p.Trp542=) c.1567T= (p.Trp523=) c.1540T= (p.Trp514=) c.982T= (p.Trp328=) c.892T= (p.Trp298=) | |
| 4 | g.72313798A>C | CA357430962 | ADAMTS3 | c.1624T>G (p.Trp542Gly) c.1567T>G (p.Trp523Gly) c.1540T>G (p.Trp514Gly) c.982T>G (p.Trp328Gly) c.892T>G (p.Trp298Gly) | |
| 4 | g.72313798A>G | CA99549860 | ADAMTS3 | c.1624T>C (p.Trp542Arg) c.1567T>C (p.Trp523Arg) c.1540T>C (p.Trp514Arg) c.982T>C (p.Trp328Arg) c.892T>C (p.Trp298Arg) | dbSNP |
| 4 | g.72313798A>T | CA357430963 | ADAMTS3 | c.1624T>A (p.Trp542Arg) c.1567T>A (p.Trp523Arg) c.1540T>A (p.Trp514Arg) c.982T>A (p.Trp328Arg) c.892T>A (p.Trp298Arg) | COSMIC |
| 4 | g.72313799C>A | CA357430964 | ADAMTS3 | c.1623G>T (p.Met541Ile) c.1566G>T (p.Met522Ile) c.1539G>T (p.Met513Ile) c.981G>T (p.Met327Ile) c.891G>T (p.Met297Ile) | |
| 4 | g.72313799C= | CA1467599981 | ADAMTS3 | c.1623G= (p.Met541=) c.1566G= (p.Met522=) c.1539G= (p.Met513=) c.981G= (p.Met327=) c.891G= (p.Met297=) | |
| 4 | g.72313799C>G | CA357430965 | ADAMTS3 | c.1623G>C (p.Met541Ile) c.1566G>C (p.Met522Ile) c.1539G>C (p.Met513Ile) c.981G>C (p.Met327Ile) c.891G>C (p.Met297Ile) | |
| 4 | g.72313799C>T | CA357430966 | ADAMTS3 | c.1623G>A (p.Met541Ile) c.1566G>A (p.Met522Ile) c.1539G>A (p.Met513Ile) c.981G>A (p.Met327Ile) c.891G>A (p.Met297Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.72313800A>C | CA357430967 | ADAMTS3 | c.1622T>G (p.Met541Arg) c.1565T>G (p.Met522Arg) c.1538T>G (p.Met513Arg) c.980T>G (p.Met327Arg) c.890T>G (p.Met297Arg) | gnomAD v4 |
| 4 | g.72313800A>G | CA357430968 | ADAMTS3 | c.1622T>C (p.Met541Thr) c.1565T>C (p.Met522Thr) c.1538T>C (p.Met513Thr) c.980T>C (p.Met327Thr) c.890T>C (p.Met297Thr) | |
| 4 | g.72313800A>T | CA357430969 | ADAMTS3 | c.1622T>A (p.Met541Lys) c.1565T>A (p.Met522Lys) c.1538T>A (p.Met513Lys) c.980T>A (p.Met327Lys) c.890T>A (p.Met297Lys) | |
| 4 | g.72313801T>A | CA357430970 | ADAMTS3 | c.1621A>T (p.Met541Leu) c.1564A>T (p.Met522Leu) c.1537A>T (p.Met513Leu) c.979A>T (p.Met327Leu) c.889A>T (p.Met297Leu) | |
| 4 | g.72313801T>C | CA357430971 | ADAMTS3 | c.1621A>G (p.Met541Val) c.1564A>G (p.Met522Val) c.1537A>G (p.Met513Val) c.979A>G (p.Met327Val) c.889A>G (p.Met297Val) | gnomAD v4 |
| 4 | g.72313801T>G | CA99549861 | ADAMTS3 | c.1621A>C (p.Met541Leu) c.1564A>C (p.Met522Leu) c.1537A>C (p.Met513Leu) c.979A>C (p.Met327Leu) c.889A>C (p.Met297Leu) | dbSNP gnomAD v4 |
| 4 | g.72313801T= | CA1467599985 | ADAMTS3 | c.1621A= (p.Met541=) c.1564A= (p.Met522=) c.1537A= (p.Met513=) c.979A= (p.Met327=) c.889A= (p.Met297=) | |
| 4 | g.72313802G>A | CA439879157 | ADAMTS3 | c.1620C>T (p.Cys540=) c.1563C>T (p.Cys521=) c.1536C>T (p.Cys512=) c.978C>T (p.Cys326=) c.888C>T (p.Cys296=) | |
| 4 | g.72313802G>C | CA357430972 | ADAMTS3 | c.1620C>G (p.Cys540Trp) c.1563C>G (p.Cys521Trp) c.1536C>G (p.Cys512Trp) c.978C>G (p.Cys326Trp) c.888C>G (p.Cys296Trp) | |
| 4 | g.72313802G>T | CA357430973 | ADAMTS3 | c.1620C>A (p.Cys540Ter) c.1563C>A (p.Cys521Ter) c.1536C>A (p.Cys512Ter) c.978C>A (p.Cys326Ter) c.888C>A (p.Cys296Ter) | |
| 4 | g.72313803C>A | CA357430974 | ADAMTS3 | c.1619G>T (p.Cys540Phe) c.1562G>T (p.Cys521Phe) c.1535G>T (p.Cys512Phe) c.977G>T (p.Cys326Phe) c.887G>T (p.Cys296Phe) | |
| 4 | g.72313803C>G | CA357430976 | ADAMTS3 | c.1619G>C (p.Cys540Ser) c.1562G>C (p.Cys521Ser) c.1535G>C (p.Cys512Ser) c.977G>C (p.Cys326Ser) c.887G>C (p.Cys296Ser) | |
| 4 | g.72313803C>T | CA357430975 | ADAMTS3 | c.1619G>A (p.Cys540Tyr) c.1562G>A (p.Cys521Tyr) c.1535G>A (p.Cys512Tyr) c.977G>A (p.Cys326Tyr) c.887G>A (p.Cys296Tyr) | |
| 4 | g.72313803_72313805del | CA1064026332 | ADAMTS3 | c.1617_1619del (p.Cys540del) c.1560_1562del (p.Cys521del) c.1533_1535del (p.Cys512del) c.975_977del (p.Cys326del) c.885_887del (p.Cys296del) | gnomAD v3 gnomAD v4 |