| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 4 | g.72313804A>C | CA357430977 | ADAMTS3 | c.1618T>G (p.Cys540Gly) c.1561T>G (p.Cys521Gly) c.1534T>G (p.Cys512Gly) c.976T>G (p.Cys326Gly) c.886T>G (p.Cys296Gly) | gnomAD v4 |
| 4 | g.72313804A>G | CA357430979 | ADAMTS3 | c.1618T>C (p.Cys540Arg) c.1561T>C (p.Cys521Arg) c.1534T>C (p.Cys512Arg) c.976T>C (p.Cys326Arg) c.886T>C (p.Cys296Arg) | |
| 4 | g.72313804A>T | CA357430978 | ADAMTS3 | c.1618T>A (p.Cys540Ser) c.1561T>A (p.Cys521Ser) c.1534T>A (p.Cys512Ser) c.976T>A (p.Cys326Ser) c.886T>A (p.Cys296Ser) | |
| 4 | g.72313805A>C | CA357430980 | ADAMTS3 | c.1617T>G (p.His539Gln) c.1560T>G (p.His520Gln) c.1533T>G (p.His511Gln) c.975T>G (p.His325Gln) c.885T>G (p.His295Gln) | |
| 4 | g.72313805A>G | CA439879158 | ADAMTS3 | c.1617T>C (p.His539=) c.1560T>C (p.His520=) c.1533T>C (p.His511=) c.975T>C (p.His325=) c.885T>C (p.His295=) | |
| 4 | g.72313805A>T | CA357430981 | ADAMTS3 | c.1617T>A (p.His539Gln) c.1560T>A (p.His520Gln) c.1533T>A (p.His511Gln) c.975T>A (p.His325Gln) c.885T>A (p.His295Gln) | |
| 4 | g.72313806T>A | CA357430982 | ADAMTS3 | c.1616A>T (p.His539Leu) c.1559A>T (p.His520Leu) c.1532A>T (p.His511Leu) c.974A>T (p.His325Leu) c.884A>T (p.His295Leu) | |
| 4 | g.72313806T>C | CA357430983 | ADAMTS3 | c.1616A>G (p.His539Arg) c.1559A>G (p.His520Arg) c.1532A>G (p.His511Arg) c.974A>G (p.His325Arg) c.884A>G (p.His295Arg) | dbSNP |
| 4 | g.72313806T>G | CA357430984 | ADAMTS3 | c.1616A>C (p.His539Pro) c.1559A>C (p.His520Pro) c.1532A>C (p.His511Pro) c.974A>C (p.His325Pro) c.884A>C (p.His295Pro) | |
| 4 | g.72313806T= | CA1467599987 | ADAMTS3 | c.1616A= (p.His539=) c.1559A= (p.His520=) c.1532A= (p.His511=) c.974A= (p.His325=) c.884A= (p.His295=) | |
| 4 | g.72313807G>A | CA99549862 | ADAMTS3 | c.1615C>T (p.His539Tyr) c.1558C>T (p.His520Tyr) c.1531C>T (p.His511Tyr) c.973C>T (p.His325Tyr) c.883C>T (p.His295Tyr) | dbSNP gnomAD v4 |
| 4 | g.72313807G>C | CA357430985 | ADAMTS3 | c.1615C>G (p.His539Asp) c.1558C>G (p.His520Asp) c.1531C>G (p.His511Asp) c.973C>G (p.His325Asp) c.883C>G (p.His295Asp) | |
| 4 | g.72313807G= | CA1467599991 | ADAMTS3 | c.1615C= (p.His539=) c.1558C= (p.His520=) c.1531C= (p.His511=) c.973C= (p.His325=) c.883C= (p.His295=) | |
| 4 | g.72313807G>T | CA357430986 | ADAMTS3 | c.1615C>A (p.His539Asn) c.1558C>A (p.His520Asn) c.1531C>A (p.His511Asn) c.973C>A (p.His325Asn) c.883C>A (p.His295Asn) | |
| 4 | g.72313807_72313808insGA | CA1064026338 | ADAMTS3 | c.1614_1615insTC (p.His539SerfsTer?) c.1557_1558insTC (p.His520SerfsTer?) c.1530_1531insTC (p.His511SerfsTer?) c.972_973insTC (p.His325SerfsTer?) c.882_883insTC (p.His295SerfsTer?) | gnomAD v3 gnomAD v4 |
| 4 | g.72313808A= | CA1467599994 | ADAMTS3 | c.1614T= (p.Gly538=) c.1557T= (p.Gly519=) c.1530T= (p.Gly510=) c.972T= (p.Gly324=) c.882T= (p.Gly294=) | |
| 4 | g.72313808A>C | CA439879159 | ADAMTS3 | c.1614T>G (p.Gly538=) c.1557T>G (p.Gly519=) c.1530T>G (p.Gly510=) c.972T>G (p.Gly324=) c.882T>G (p.Gly294=) | |
| 4 | g.72313808A>G | CA439879160 | ADAMTS3 | c.1614T>C (p.Gly538=) c.1557T>C (p.Gly519=) c.1530T>C (p.Gly510=) c.972T>C (p.Gly324=) c.882T>C (p.Gly294=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313808A>T | CA439879161 | ADAMTS3 | c.1614T>A (p.Gly538=) c.1557T>A (p.Gly519=) c.1530T>A (p.Gly510=) c.972T>A (p.Gly324=) c.882T>A (p.Gly294=) | |
| 4 | g.72313809C>A | CA357430987 | ADAMTS3 | c.1613G>T (p.Gly538Val) c.1556G>T (p.Gly519Val) c.1529G>T (p.Gly510Val) c.971G>T (p.Gly324Val) c.881G>T (p.Gly294Val) | gnomAD v4 |
| 4 | g.72313809C= | CA1467599997 | ADAMTS3 | c.1613G= (p.Gly538=) c.1556G= (p.Gly519=) c.1529G= (p.Gly510=) c.971G= (p.Gly324=) c.881G= (p.Gly294=) | |
| 4 | g.72313809C>G | CA357430988 | ADAMTS3 | c.1613G>C (p.Gly538Ala) c.1556G>C (p.Gly519Ala) c.1529G>C (p.Gly510Ala) c.971G>C (p.Gly324Ala) c.881G>C (p.Gly294Ala) | gnomAD v4 |
| 4 | g.72313809C>T | CA357430989 | ADAMTS3 | c.1613G>A (p.Gly538Asp) c.1556G>A (p.Gly519Asp) c.1529G>A (p.Gly510Asp) c.971G>A (p.Gly324Asp) c.881G>A (p.Gly294Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.72313809_72313810insTGGTGTT | CA1064026341 | ADAMTS3 | c.1612_1613insAACACCA (p.Gly538GlufsTer11) c.1555_1556insAACACCA (p.Gly519GlufsTer11) c.1528_1529insAACACCA (p.Gly510GlufsTer11) c.970_971insAACACCA (p.Gly324GlufsTer11) c.880_881insAACACCA (p.Gly294GlufsTer11) | gnomAD v3 gnomAD v4 |
| 4 | g.72313810C>A | CA357430991 | ADAMTS3 | c.1612G>T (p.Gly538Cys) c.1555G>T (p.Gly519Cys) c.1528G>T (p.Gly510Cys) c.970G>T (p.Gly324Cys) c.880G>T (p.Gly294Cys) | |
| 4 | g.72313810C= | CA1467599998 | ADAMTS3 | c.1612G= (p.Gly538=) c.1555G= (p.Gly519=) c.1528G= (p.Gly510=) c.970G= (p.Gly324=) c.880G= (p.Gly294=) | |
| 4 | g.72313810C>G | CA357430990 | ADAMTS3 | c.1612G>C (p.Gly538Arg) c.1555G>C (p.Gly519Arg) c.1528G>C (p.Gly510Arg) c.970G>C (p.Gly324Arg) c.880G>C (p.Gly294Arg) | |
| 4 | g.72313810C>T | CA2956892 | ADAMTS3 | c.1612G>A (p.Gly538Ser) c.1555G>A (p.Gly519Ser) c.1528G>A (p.Gly510Ser) c.970G>A (p.Gly324Ser) c.880G>A (p.Gly294Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.72313811C>A | CA357430992 | ADAMTS3 | c.1611G>T (p.Lys537Asn) c.1554G>T (p.Lys518Asn) c.1527G>T (p.Lys509Asn) c.969G>T (p.Lys323Asn) c.879G>T (p.Lys293Asn) | |
| 4 | g.72313811C= | CA1467600001 | ADAMTS3 | c.1611G= (p.Lys537=) c.1554G= (p.Lys518=) c.1527G= (p.Lys509=) c.969G= (p.Lys323=) c.879G= (p.Lys293=) | |
| 4 | g.72313811C>G | CA357430993 | ADAMTS3 | c.1611G>C (p.Lys537Asn) c.1554G>C (p.Lys518Asn) c.1527G>C (p.Lys509Asn) c.969G>C (p.Lys323Asn) c.879G>C (p.Lys293Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.72313811C>T | CA439879163 | ADAMTS3 | c.1611G>A (p.Lys537=) c.1554G>A (p.Lys518=) c.1527G>A (p.Lys509=) c.969G>A (p.Lys323=) c.879G>A (p.Lys293=) | gnomAD v4 |
| 4 | g.72313812T>A | CA357430994 | ADAMTS3 | c.1610A>T (p.Lys537Met) c.1553A>T (p.Lys518Met) c.1526A>T (p.Lys509Met) c.968A>T (p.Lys323Met) c.878A>T (p.Lys293Met) | |
| 4 | g.72313812T>C | CA357430995 | ADAMTS3 | c.1610A>G (p.Lys537Arg) c.1553A>G (p.Lys518Arg) c.1526A>G (p.Lys509Arg) c.968A>G (p.Lys323Arg) c.878A>G (p.Lys293Arg) | gnomAD v4 |
| 4 | g.72313812T>G | CA357430996 | ADAMTS3 | c.1610A>C (p.Lys537Thr) c.1553A>C (p.Lys518Thr) c.1526A>C (p.Lys509Thr) c.968A>C (p.Lys323Thr) c.878A>C (p.Lys293Thr) | |
| 4 | g.72313813del | CA2670948939 | ADAMTS3 | c.1610del (p.Lys537ArgfsTer?) c.1553del (p.Lys518ArgfsTer?) c.1526del (p.Lys509ArgfsTer?) c.968del (p.Lys323ArgfsTer?) c.878del (p.Lys293ArgfsTer?) | gnomAD v4 |
| 4 | g.72313813T>A | CA357430997 | ADAMTS3 | c.1609A>T (p.Lys537Ter) c.1552A>T (p.Lys518Ter) c.1525A>T (p.Lys509Ter) c.967A>T (p.Lys323Ter) c.877A>T (p.Lys293Ter) | |
| 4 | g.72313813T>C | CA357430998 | ADAMTS3 | c.1609A>G (p.Lys537Glu) c.1552A>G (p.Lys518Glu) c.1525A>G (p.Lys509Glu) c.967A>G (p.Lys323Glu) c.877A>G (p.Lys293Glu) | gnomAD v4 |
| 4 | g.72313813T>G | CA357430999 | ADAMTS3 | c.1609A>C (p.Lys537Gln) c.1552A>C (p.Lys518Gln) c.1525A>C (p.Lys509Gln) c.967A>C (p.Lys323Gln) c.877A>C (p.Lys293Gln) | |
| 4 | g.72313814A= | CA1467600003 | ADAMTS3 | c.1608T= (p.Tyr536=) c.1551T= (p.Tyr517=) c.1524T= (p.Tyr508=) c.966T= (p.Tyr322=) c.876T= (p.Tyr292=) | |
| 4 | g.72313814A>C | CA357431000 | ADAMTS3 | c.1608T>G (p.Tyr536Ter) c.1551T>G (p.Tyr517Ter) c.1524T>G (p.Tyr508Ter) c.966T>G (p.Tyr322Ter) c.876T>G (p.Tyr292Ter) | gnomAD v4 |
| 4 | g.72313814A>G | CA439879164 | ADAMTS3 | c.1608T>C (p.Tyr536=) c.1551T>C (p.Tyr517=) c.1524T>C (p.Tyr508=) c.966T>C (p.Tyr322=) c.876T>C (p.Tyr292=) | |
| 4 | g.72313814A>T | CA357431001 | ADAMTS3 | c.1608T>A (p.Tyr536Ter) c.1551T>A (p.Tyr517Ter) c.1524T>A (p.Tyr508Ter) c.966T>A (p.Tyr322Ter) c.876T>A (p.Tyr292Ter) | dbSNP gnomAD v2 |
| 4 | g.72313815T>A | CA357431003 | ADAMTS3 | c.1607A>T (p.Tyr536Phe) c.1550A>T (p.Tyr517Phe) c.1523A>T (p.Tyr508Phe) c.965A>T (p.Tyr322Phe) c.875A>T (p.Tyr292Phe) | gnomAD v4 |
| 4 | g.72313815T>C | CA2956893 | ADAMTS3 | c.1607A>G (p.Tyr536Cys) c.1550A>G (p.Tyr517Cys) c.1523A>G (p.Tyr508Cys) c.965A>G (p.Tyr322Cys) c.875A>G (p.Tyr292Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.72313815T>G | CA357431002 | ADAMTS3 | c.1607A>C (p.Tyr536Ser) c.1550A>C (p.Tyr517Ser) c.1523A>C (p.Tyr508Ser) c.965A>C (p.Tyr322Ser) c.875A>C (p.Tyr292Ser) | |
| 4 | g.72313815T= | CA1467600007 | ADAMTS3 | c.1607A= (p.Tyr536=) c.1550A= (p.Tyr517=) c.1523A= (p.Tyr508=) c.965A= (p.Tyr322=) c.875A= (p.Tyr292=) | |
| 4 | g.72313816A>C | CA357431004 | ADAMTS3 | c.1606T>G (p.Tyr536Asp) c.1549T>G (p.Tyr517Asp) c.1522T>G (p.Tyr508Asp) c.964T>G (p.Tyr322Asp) c.874T>G (p.Tyr292Asp) | |
| 4 | g.72313816A>G | CA357431005 | ADAMTS3 | c.1606T>C (p.Tyr536His) c.1549T>C (p.Tyr517His) c.1522T>C (p.Tyr508His) c.964T>C (p.Tyr322His) c.874T>C (p.Tyr292His) | |
| 4 | g.72313816A>T | CA357431007 | ADAMTS3 | c.1606T>A (p.Tyr536Asn) c.1549T>A (p.Tyr517Asn) c.1522T>A (p.Tyr508Asn) c.964T>A (p.Tyr322Asn) c.874T>A (p.Tyr292Asn) | |
| 4 | g.72313817G>A | CA439879165 | ADAMTS3 | c.1605C>T (p.Cys535=) c.1548C>T (p.Cys516=) c.1521C>T (p.Cys507=) c.963C>T (p.Cys321=) c.873C>T (p.Cys291=) | gnomAD v4 |
| 4 | g.72313817G>C | CA357431009 | ADAMTS3 | c.1605C>G (p.Cys535Trp) c.1548C>G (p.Cys516Trp) c.1521C>G (p.Cys507Trp) c.963C>G (p.Cys321Trp) c.873C>G (p.Cys291Trp) | |
| 4 | g.72313817G>T | CA357431011 | ADAMTS3 | c.1605C>A (p.Cys535Ter) c.1548C>A (p.Cys516Ter) c.1521C>A (p.Cys507Ter) c.963C>A (p.Cys321Ter) c.873C>A (p.Cys291Ter) | |
| 4 | g.72313818C>A | CA357431017 | ADAMTS3 | c.1604G>T (p.Cys535Phe) c.1547G>T (p.Cys516Phe) c.1520G>T (p.Cys507Phe) c.962G>T (p.Cys321Phe) c.872G>T (p.Cys291Phe) | gnomAD v4 |
| 4 | g.72313818C>G | CA357431015 | ADAMTS3 | c.1604G>C (p.Cys535Ser) c.1547G>C (p.Cys516Ser) c.1520G>C (p.Cys507Ser) c.962G>C (p.Cys321Ser) c.872G>C (p.Cys291Ser) | |
| 4 | g.72313818C>T | CA357431014 | ADAMTS3 | c.1604G>A (p.Cys535Tyr) c.1547G>A (p.Cys516Tyr) c.1520G>A (p.Cys507Tyr) c.962G>A (p.Cys321Tyr) c.872G>A (p.Cys291Tyr) | |
| 4 | g.72313819A>C | CA357431020 | ADAMTS3 | c.1603T>G (p.Cys535Gly) c.1546T>G (p.Cys516Gly) c.1519T>G (p.Cys507Gly) c.961T>G (p.Cys321Gly) c.871T>G (p.Cys291Gly) | |
| 4 | g.72313819A>G | CA357431021 | ADAMTS3 | c.1603T>C (p.Cys535Arg) c.1546T>C (p.Cys516Arg) c.1519T>C (p.Cys507Arg) c.961T>C (p.Cys321Arg) c.871T>C (p.Cys291Arg) | |
| 4 | g.72313819A>T | CA357431024 | ADAMTS3 | c.1603T>A (p.Cys535Ser) c.1546T>A (p.Cys516Ser) c.1519T>A (p.Cys507Ser) c.961T>A (p.Cys321Ser) c.871T>A (p.Cys291Ser) | |
| 4 | g.72313819_72313824delinsACCACT | CA1467600012 | ADAMTS3 | c.1600-2_1603delinsAGTGGT c.1543-2_1546delinsAGTGGT c.1516-2_1519delinsAGTGGT c.958-2_961delinsAGTGGT c.868-2_871delinsAGTGGT | |
| 4 | g.72313820C>A | CA2956894 | ADAMTS3 | c.1602G>T (p.Trp534Cys) c.1545G>T (p.Trp515Cys) c.1518G>T (p.Trp506Cys) c.960G>T (p.Trp320Cys) c.870G>T (p.Trp290Cys) | dbSNP ExAC gnomAD v2 |
| 4 | g.72313820C= | CA1467600016 | ADAMTS3 | c.1602G= (p.Trp534=) c.1545G= (p.Trp515=) c.1518G= (p.Trp506=) c.960G= (p.Trp320=) c.870G= (p.Trp290=) | |
| 4 | g.72313820C>G | CA357431028 | ADAMTS3 | c.1602G>C (p.Trp534Cys) c.1545G>C (p.Trp515Cys) c.1518G>C (p.Trp506Cys) c.960G>C (p.Trp320Cys) c.870G>C (p.Trp290Cys) | dbSNP |
| 4 | g.72313820C>T | CA357431030 | ADAMTS3 | c.1602G>A (p.Trp534Ter) c.1545G>A (p.Trp515Ter) c.1518G>A (p.Trp506Ter) c.960G>A (p.Trp320Ter) c.870G>A (p.Trp290Ter) | |
| 4 | g.72313820_72313824del | CA552478972 | ADAMTS3 | c.1600-2_1602del c.1543-2_1545del c.1516-2_1518del c.958-2_960del c.868-2_870del | dbSNP gnomAD v2 |
| 4 | g.72313821C>A | CA357431032 | ADAMTS3 | c.1601G>T (p.Trp534Leu) c.1544G>T (p.Trp515Leu) c.1517G>T (p.Trp506Leu) c.959G>T (p.Trp320Leu) c.869G>T (p.Trp290Leu) | |
| 4 | g.72313821C= | CA1467600021 | ADAMTS3 | c.1601G= (p.Trp534=) c.1544G= (p.Trp515=) c.1517G= (p.Trp506=) c.959G= (p.Trp320=) c.869G= (p.Trp290=) | |
| 4 | g.72313821C>G | CA357431037 | ADAMTS3 | c.1601G>C (p.Trp534Ser) c.1544G>C (p.Trp515Ser) c.1517G>C (p.Trp506Ser) c.959G>C (p.Trp320Ser) c.869G>C (p.Trp290Ser) | |
| 4 | g.72313821C>T | CA357431034 | ADAMTS3 | c.1601G>A (p.Trp534Ter) c.1544G>A (p.Trp515Ter) c.1517G>A (p.Trp506Ter) c.959G>A (p.Trp320Ter) c.869G>A (p.Trp290Ter) | |
| 4 | g.72313822A= | CA1467600023 | ADAMTS3 | c.1600T= (p.Trp534=) c.1543T= (p.Trp515=) c.1516T= (p.Trp506=) c.958T= (p.Trp320=) c.868T= (p.Trp290=) | |
| 4 | g.72313822A>C | CA357431039 | ADAMTS3 | c.1600T>G (p.Trp534Gly) c.1543T>G (p.Trp515Gly) c.1516T>G (p.Trp506Gly) c.958T>G (p.Trp320Gly) c.868T>G (p.Trp290Gly) | |
| 4 | g.72313822A>G | CA357431041 | ADAMTS3 | c.1600T>C (p.Trp534Arg) c.1543T>C (p.Trp515Arg) c.1516T>C (p.Trp506Arg) c.958T>C (p.Trp320Arg) c.868T>C (p.Trp290Arg) | dbSNP |
| 4 | g.72313822A>T | CA357431043 | ADAMTS3 | c.1600T>A (p.Trp534Arg) c.1543T>A (p.Trp515Arg) c.1516T>A (p.Trp506Arg) c.958T>A (p.Trp320Arg) c.868T>A (p.Trp290Arg) | |
| 4 | g.72313822dup | CA552478975 | ADAMTS3 | c.1600dup (p.Trp534LeufsTer4) c.1543dup (p.Trp515LeufsTer4) c.1516dup (p.Trp506LeufsTer4) c.958dup (p.Trp320LeufsTer4) c.868dup (p.Trp290LeufsTer4) | dbSNP gnomAD v2 gnomAD v4 |