| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) |