Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.72313773T>ACA357430901ADAMTS3c.1649A>T (p.Gln550Leu)
c.1592A>T (p.Gln531Leu)
c.1565A>T (p.Gln522Leu)
c.1007A>T (p.Gln336Leu)
c.917A>T (p.Gln306Leu)
4g.72313773T>CCA357430902ADAMTS3c.1649A>G (p.Gln550Arg)
c.1592A>G (p.Gln531Arg)
c.1565A>G (p.Gln522Arg)
c.1007A>G (p.Gln336Arg)
c.917A>G (p.Gln306Arg)
4g.72313773T>GCA357430900ADAMTS3c.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
4g.72313773T=CA1467599944ADAMTS3c.1649A= (p.Gln550=)
c.1592A= (p.Gln531=)
c.1565A= (p.Gln522=)
c.1007A= (p.Gln336=)
c.917A= (p.Gln306=)
4g.72313774G>ACA357430903ADAMTS3c.1648C>T (p.Gln550Ter)
c.1591C>T (p.Gln531Ter)
c.1564C>T (p.Gln522Ter)
c.1006C>T (p.Gln336Ter)
c.916C>T (p.Gln306Ter)
4g.72313774G>CCA357430904ADAMTS3c.1648C>G (p.Gln550Glu)
c.1591C>G (p.Gln531Glu)
c.1564C>G (p.Gln522Glu)
c.1006C>G (p.Gln336Glu)
c.916C>G (p.Gln306Glu)
4g.72313774G>TCA357430905ADAMTS3c.1648C>A (p.Gln550Lys)
c.1591C>A (p.Gln531Lys)
c.1564C>A (p.Gln522Lys)
c.1006C>A (p.Gln336Lys)
c.916C>A (p.Gln306Lys)
4g.72313775T>ACA357430906ADAMTS3c.1647A>T (p.Lys549Asn)
c.1590A>T (p.Lys530Asn)
c.1563A>T (p.Lys521Asn)
c.1005A>T (p.Lys335Asn)
c.915A>T (p.Lys305Asn)
4g.72313775T>CCA439879148ADAMTS3c.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
4g.72313775T>GCA357430907ADAMTS3c.1647A>C (p.Lys549Asn)
c.1590A>C (p.Lys530Asn)
c.1563A>C (p.Lys521Asn)
c.1005A>C (p.Lys335Asn)
c.915A>C (p.Lys305Asn)
4g.72313776T>ACA357430910ADAMTS3c.1646A>T (p.Lys549Ile)
c.1589A>T (p.Lys530Ile)
c.1562A>T (p.Lys521Ile)
c.1004A>T (p.Lys335Ile)
c.914A>T (p.Lys305Ile)
4g.72313776T>CCA357430908ADAMTS3c.1646A>G (p.Lys549Arg)
c.1589A>G (p.Lys530Arg)
c.1562A>G (p.Lys521Arg)
c.1004A>G (p.Lys335Arg)
c.914A>G (p.Lys305Arg)
4g.72313776T>GCA357430909ADAMTS3c.1646A>C (p.Lys549Thr)
c.1589A>C (p.Lys530Thr)
c.1562A>C (p.Lys521Thr)
c.1004A>C (p.Lys335Thr)
c.914A>C (p.Lys305Thr)
4g.72313777T>ACA357430911ADAMTS3c.1645A>T (p.Lys549Ter)
c.1588A>T (p.Lys530Ter)
c.1561A>T (p.Lys521Ter)
c.1003A>T (p.Lys335Ter)
c.913A>T (p.Lys305Ter)
4g.72313777T>CCA357430912ADAMTS3c.1645A>G (p.Lys549Glu)
c.1588A>G (p.Lys530Glu)
c.1561A>G (p.Lys521Glu)
c.1003A>G (p.Lys335Glu)
c.913A>G (p.Lys305Glu)
4g.72313777T>GCA357430913ADAMTS3c.1645A>C (p.Lys549Gln)
c.1588A>C (p.Lys530Gln)
c.1561A>C (p.Lys521Gln)
c.1003A>C (p.Lys335Gln)
c.913A>C (p.Lys305Gln)
4g.72313778T>ACA357430914ADAMTS3c.1644A>T (p.Gln548His)
c.1587A>T (p.Gln529His)
c.1560A>T (p.Gln520His)
c.1002A>T (p.Gln334His)
c.912A>T (p.Gln304His)
4g.72313778T>CCA439879149ADAMTS3c.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
4g.72313778T>GCA357430915ADAMTS3c.1644A>C (p.Gln548His)
c.1587A>C (p.Gln529His)
c.1560A>C (p.Gln520His)
c.1002A>C (p.Gln334His)
c.912A>C (p.Gln304His)
4g.72313779T>ACA357430916ADAMTS3c.1643A>T (p.Gln548Leu)
c.1586A>T (p.Gln529Leu)
c.1559A>T (p.Gln520Leu)
c.1001A>T (p.Gln334Leu)
c.911A>T (p.Gln304Leu)
4g.72313779T>CCA357430918ADAMTS3c.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
4g.72313779T>GCA357430917ADAMTS3c.1643A>C (p.Gln548Pro)
c.1586A>C (p.Gln529Pro)
c.1559A>C (p.Gln520Pro)
c.1001A>C (p.Gln334Pro)
c.911A>C (p.Gln304Pro)
4g.72313779T=CA1467599945ADAMTS3c.1643A= (p.Gln548=)
c.1586A= (p.Gln529=)
c.1559A= (p.Gln520=)
c.1001A= (p.Gln334=)
c.911A= (p.Gln304=)
4g.72313780G>ACA357430919ADAMTS3c.1642C>T (p.Gln548Ter)
c.1585C>T (p.Gln529Ter)
c.1558C>T (p.Gln520Ter)
c.1000C>T (p.Gln334Ter)
c.910C>T (p.Gln304Ter)
4g.72313780G>CCA357430921ADAMTS3c.1642C>G (p.Gln548Glu)
c.1585C>G (p.Gln529Glu)
c.1558C>G (p.Gln520Glu)
c.1000C>G (p.Gln334Glu)
c.910C>G (p.Gln304Glu)
4g.72313780G>TCA357430920ADAMTS3c.1642C>A (p.Gln548Lys)
c.1585C>A (p.Gln529Lys)
c.1558C>A (p.Gln520Lys)
c.1000C>A (p.Gln334Lys)
c.910C>A (p.Gln304Lys)
4g.72313781C>ACA357430922ADAMTS3c.1641G>T (p.Gln547His)
c.1584G>T (p.Gln528His)
c.1557G>T (p.Gln519His)
c.999G>T (p.Gln333His)
c.909G>T (p.Gln303His)
4g.72313781C>GCA357430923ADAMTS3c.1641G>C (p.Gln547His)
c.1584G>C (p.Gln528His)
c.1557G>C (p.Gln519His)
c.999G>C (p.Gln333His)
c.909G>C (p.Gln303His)
4g.72313781C>TCA439879150ADAMTS3c.1641G>A (p.Gln547=)
c.1584G>A (p.Gln528=)
c.1557G>A (p.Gln519=)
c.999G>A (p.Gln333=)
c.909G>A (p.Gln303=)
4g.72313782T>ACA357430924ADAMTS3c.1640A>T (p.Gln547Leu)
c.1583A>T (p.Gln528Leu)
c.1556A>T (p.Gln519Leu)
c.998A>T (p.Gln333Leu)
c.908A>T (p.Gln303Leu)
4g.72313782T>CCA357430925ADAMTS3c.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
4g.72313782T>GCA357430926ADAMTS3c.1640A>C (p.Gln547Pro)
c.1583A>C (p.Gln528Pro)
c.1556A>C (p.Gln519Pro)
c.998A>C (p.Gln333Pro)
c.908A>C (p.Gln303Pro)
4g.72313783G>ACA357430927ADAMTS3c.1639C>T (p.Gln547Ter)
c.1582C>T (p.Gln528Ter)
c.1555C>T (p.Gln519Ter)
c.997C>T (p.Gln333Ter)
c.907C>T (p.Gln303Ter)
4g.72313783G>CCA357430928ADAMTS3c.1639C>G (p.Gln547Glu)
c.1582C>G (p.Gln528Glu)
c.1555C>G (p.Gln519Glu)
c.997C>G (p.Gln333Glu)
c.907C>G (p.Gln303Glu)
4g.72313783G=CA1467599948ADAMTS3c.1639C= (p.Gln547=)
c.1582C= (p.Gln528=)
c.1555C= (p.Gln519=)
c.997C= (p.Gln333=)
c.907C= (p.Gln303=)
4g.72313783G>TCA357430929ADAMTS3c.1639C>A (p.Gln547Lys)
c.1582C>A (p.Gln528Lys)
c.1555C>A (p.Gln519Lys)
c.997C>A (p.Gln333Lys)
c.907C>A (p.Gln303Lys)
4g.72313784A>CCA357430930ADAMTS3c.1638T>G (p.Asn546Lys)
c.1581T>G (p.Asn527Lys)
c.1554T>G (p.Asn518Lys)
c.996T>G (p.Asn332Lys)
c.906T>G (p.Asn302Lys)
4g.72313784A>GCA439879151ADAMTS3c.1638T>C (p.Asn546=)
c.1581T>C (p.Asn527=)
c.1554T>C (p.Asn518=)
c.996T>C (p.Asn332=)
c.906T>C (p.Asn302=)
4g.72313784A>TCA357430931ADAMTS3c.1638T>A (p.Asn546Lys)
c.1581T>A (p.Asn527Lys)
c.1554T>A (p.Asn518Lys)
c.996T>A (p.Asn332Lys)
c.906T>A (p.Asn302Lys)
4g.72313785_72313787dupCA552478962ADAMTS3c.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
4g.72313785T>ACA357430933ADAMTS3c.1637A>T (p.Asn546Ile)
c.1580A>T (p.Asn527Ile)
c.1553A>T (p.Asn518Ile)
c.995A>T (p.Asn332Ile)
c.905A>T (p.Asn302Ile)
4g.72313785T>CCA2956889ADAMTS3c.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
4g.72313785T>GCA357430932ADAMTS3c.1637A>C (p.Asn546Thr)
c.1580A>C (p.Asn527Thr)
c.1553A>C (p.Asn518Thr)
c.995A>C (p.Asn332Thr)
c.905A>C (p.Asn302Thr)
4g.72313785T=CA1467599954ADAMTS3c.1637A= (p.Asn546=)
c.1580A= (p.Asn527=)
c.1553A= (p.Asn518=)
c.995A= (p.Asn332=)
c.905A= (p.Asn302=)
4g.72313786delCA2706273113ADAMTS3c.1637del (p.Asn546IlefsTer?)
c.1580del (p.Asn527IlefsTer?)
c.1553del (p.Asn518IlefsTer?)
c.995del (p.Asn332IlefsTer?)
c.905del (p.Asn302IlefsTer?)
 dbSNP
4g.72313786T>ACA357430934ADAMTS3c.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
4g.72313786T>CCA99549859ADAMTS3c.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
4g.72313786T>GCA2956890ADAMTS3c.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
4g.72313786T=CA1467599958ADAMTS3c.1636A= (p.Asn546=)
c.1579A= (p.Asn527=)
c.1552A= (p.Asn518=)
c.994A= (p.Asn332=)
c.904A= (p.Asn302=)
4g.72313787A>CCA439879152ADAMTS3c.1635T>G (p.Ala545=)
c.1578T>G (p.Ala526=)
c.1551T>G (p.Ala517=)
c.993T>G (p.Ala331=)
c.903T>G (p.Ala301=)
4g.72313787A>GCA439879153ADAMTS3c.1635T>C (p.Ala545=)
c.1578T>C (p.Ala526=)
c.1551T>C (p.Ala517=)
c.993T>C (p.Ala331=)
c.903T>C (p.Ala301=)
4g.72313787A>TCA439879154ADAMTS3c.1635T>A (p.Ala545=)
c.1578T>A (p.Ala526=)
c.1551T>A (p.Ala517=)
c.993T>A (p.Ala331=)
c.903T>A (p.Ala301=)
4g.72313788G>ACA357430935ADAMTS3c.1634C>T (p.Ala545Val)
c.1577C>T (p.Ala526Val)
c.1550C>T (p.Ala517Val)
c.992C>T (p.Ala331Val)
c.902C>T (p.Ala301Val)
4g.72313788G>CCA2956891ADAMTS3c.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
4g.72313788G=CA1467599962ADAMTS3c.1634C= (p.Ala545=)
c.1577C= (p.Ala526=)
c.1550C= (p.Ala517=)
c.992C= (p.Ala331=)
c.902C= (p.Ala301=)
4g.72313788G>TCA357430936ADAMTS3c.1634C>A (p.Ala545Asp)
c.1577C>A (p.Ala526Asp)
c.1550C>A (p.Ala517Asp)
c.992C>A (p.Ala331Asp)
c.902C>A (p.Ala301Asp)
4g.72313789C>ACA357430937ADAMTS3c.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
4g.72313789C=CA1467599966ADAMTS3c.1633G= (p.Ala545=)
c.1576G= (p.Ala526=)
c.1549G= (p.Ala517=)
c.991G= (p.Ala331=)
c.901G= (p.Ala301=)
4g.72313789C>GCA357430938ADAMTS3c.1633G>C (p.Ala545Pro)
c.1576G>C (p.Ala526Pro)
c.1549G>C (p.Ala517Pro)
c.991G>C (p.Ala331Pro)
c.901G>C (p.Ala301Pro)
4g.72313789C>TCA357430939ADAMTS3c.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
4g.72313790A=CA1467599971ADAMTS3c.1632T= (p.Asn544=)
c.1575T= (p.Asn525=)
c.1548T= (p.Asn516=)
c.990T= (p.Asn330=)
c.900T= (p.Asn300=)
4g.72313790A>CCA357430940ADAMTS3c.1632T>G (p.Asn544Lys)
c.1575T>G (p.Asn525Lys)
c.1548T>G (p.Asn516Lys)
c.990T>G (p.Asn330Lys)
c.900T>G (p.Asn300Lys)
4g.72313790A>GCA439879155ADAMTS3c.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
4g.72313790A>TCA357430941ADAMTS3c.1632T>A (p.Asn544Lys)
c.1575T>A (p.Asn525Lys)
c.1548T>A (p.Asn516Lys)
c.990T>A (p.Asn330Lys)
c.900T>A (p.Asn300Lys)
4g.72313791T>ACA357430943ADAMTS3c.1631A>T (p.Asn544Ile)
c.1574A>T (p.Asn525Ile)
c.1547A>T (p.Asn516Ile)
c.989A>T (p.Asn330Ile)
c.899A>T (p.Asn300Ile)
4g.72313791T>CCA357430944ADAMTS3c.1631A>G (p.Asn544Ser)
c.1574A>G (p.Asn525Ser)
c.1547A>G (p.Asn516Ser)
c.989A>G (p.Asn330Ser)
c.899A>G (p.Asn300Ser)
4g.72313791T>GCA357430942ADAMTS3c.1631A>C (p.Asn544Thr)
c.1574A>C (p.Asn525Thr)
c.1547A>C (p.Asn516Thr)
c.989A>C (p.Asn330Thr)
c.899A>C (p.Asn300Thr)
4g.72313792T>ACA357430945ADAMTS3c.1630A>T (p.Asn544Tyr)
c.1573A>T (p.Asn525Tyr)
c.1546A>T (p.Asn516Tyr)
c.988A>T (p.Asn330Tyr)
c.898A>T (p.Asn300Tyr)
4g.72313792T>CCA357430946ADAMTS3c.1630A>G (p.Asn544Asp)
c.1573A>G (p.Asn525Asp)
c.1546A>G (p.Asn516Asp)
c.988A>G (p.Asn330Asp)
c.898A>G (p.Asn300Asp)
4g.72313792T>GCA357430947ADAMTS3c.1630A>C (p.Asn544His)
c.1573A>C (p.Asn525His)
c.1546A>C (p.Asn516His)
c.988A>C (p.Asn330His)
c.898A>C (p.Asn300His)
4g.72313793C>ACA357430948ADAMTS3c.1629G>T (p.Lys543Asn)
c.1572G>T (p.Lys524Asn)
c.1545G>T (p.Lys515Asn)
c.987G>T (p.Lys329Asn)
c.897G>T (p.Lys299Asn)
4g.72313793C>GCA357430949ADAMTS3c.1629G>C (p.Lys543Asn)
c.1572G>C (p.Lys524Asn)
c.1545G>C (p.Lys515Asn)
c.987G>C (p.Lys329Asn)
c.897G>C (p.Lys299Asn)
4g.72313793C>TCA439879156ADAMTS3c.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
4g.72313794T>ACA357430952ADAMTS3c.1628A>T (p.Lys543Met)
c.1571A>T (p.Lys524Met)
c.1544A>T (p.Lys515Met)
c.986A>T (p.Lys329Met)
c.896A>T (p.Lys299Met)
4g.72313794T>CCA357430951ADAMTS3c.1628A>G (p.Lys543Arg)
c.1571A>G (p.Lys524Arg)
c.1544A>G (p.Lys515Arg)
c.986A>G (p.Lys329Arg)
c.896A>G (p.Lys299Arg)
4g.72313794T>GCA357430950ADAMTS3c.1628A>C (p.Lys543Thr)
c.1571A>C (p.Lys524Thr)
c.1544A>C (p.Lys515Thr)
c.986A>C (p.Lys329Thr)
c.896A>C (p.Lys299Thr)
4g.72313794_72313795insGTTTTATAAAGTGCACA2670948938ADAMTS3c.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
4g.72313795T>ACA357430953ADAMTS3c.1627A>T (p.Lys543Ter)
c.1570A>T (p.Lys524Ter)
c.1543A>T (p.Lys515Ter)
c.985A>T (p.Lys329Ter)
c.895A>T (p.Lys299Ter)
4g.72313795T>CCA357430954ADAMTS3c.1627A>G (p.Lys543Glu)
c.1570A>G (p.Lys524Glu)
c.1543A>G (p.Lys515Glu)
c.985A>G (p.Lys329Glu)
c.895A>G (p.Lys299Glu)
4g.72313795T>GCA357430955ADAMTS3c.1627A>C (p.Lys543Gln)
c.1570A>C (p.Lys524Gln)
c.1543A>C (p.Lys515Gln)
c.985A>C (p.Lys329Gln)
c.895A>C (p.Lys299Gln)
4g.72313796C>ACA357430956ADAMTS3c.1626G>T (p.Trp542Cys)
c.1569G>T (p.Trp523Cys)
c.1542G>T (p.Trp514Cys)
c.984G>T (p.Trp328Cys)
c.894G>T (p.Trp298Cys)
4g.72313796C>GCA357430957ADAMTS3c.1626G>C (p.Trp542Cys)
c.1569G>C (p.Trp523Cys)
c.1542G>C (p.Trp514Cys)
c.984G>C (p.Trp328Cys)
c.894G>C (p.Trp298Cys)
4g.72313796C>TCA357430958ADAMTS3c.1626G>A (p.Trp542Ter)
c.1569G>A (p.Trp523Ter)
c.1542G>A (p.Trp514Ter)
c.984G>A (p.Trp328Ter)
c.894G>A (p.Trp298Ter)
4g.72313797C>ACA357430959ADAMTS3c.1625G>T (p.Trp542Leu)
c.1568G>T (p.Trp523Leu)
c.1541G>T (p.Trp514Leu)
c.983G>T (p.Trp328Leu)
c.893G>T (p.Trp298Leu)
4g.72313797C>GCA357430961ADAMTS3c.1625G>C (p.Trp542Ser)
c.1568G>C (p.Trp523Ser)
c.1541G>C (p.Trp514Ser)
c.983G>C (p.Trp328Ser)
c.893G>C (p.Trp298Ser)
4g.72313797C>TCA357430960ADAMTS3c.1625G>A (p.Trp542Ter)
c.1568G>A (p.Trp523Ter)
c.1541G>A (p.Trp514Ter)
c.983G>A (p.Trp328Ter)
c.893G>A (p.Trp298Ter)
4g.72313798A=CA1467599975ADAMTS3c.1624T= (p.Trp542=)
c.1567T= (p.Trp523=)
c.1540T= (p.Trp514=)
c.982T= (p.Trp328=)
c.892T= (p.Trp298=)
4g.72313798A>CCA357430962ADAMTS3c.1624T>G (p.Trp542Gly)
c.1567T>G (p.Trp523Gly)
c.1540T>G (p.Trp514Gly)
c.982T>G (p.Trp328Gly)
c.892T>G (p.Trp298Gly)
4g.72313798A>GCA99549860ADAMTS3c.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
4g.72313798A>TCA357430963ADAMTS3c.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
4g.72313799C>ACA357430964ADAMTS3c.1623G>T (p.Met541Ile)
c.1566G>T (p.Met522Ile)
c.1539G>T (p.Met513Ile)
c.981G>T (p.Met327Ile)
c.891G>T (p.Met297Ile)
4g.72313799C=CA1467599981ADAMTS3c.1623G= (p.Met541=)
c.1566G= (p.Met522=)
c.1539G= (p.Met513=)
c.981G= (p.Met327=)
c.891G= (p.Met297=)
4g.72313799C>GCA357430965ADAMTS3c.1623G>C (p.Met541Ile)
c.1566G>C (p.Met522Ile)
c.1539G>C (p.Met513Ile)
c.981G>C (p.Met327Ile)
c.891G>C (p.Met297Ile)
4g.72313799C>TCA357430966ADAMTS3c.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
4g.72313800A>CCA357430967ADAMTS3c.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
4g.72313800A>GCA357430968ADAMTS3c.1622T>C (p.Met541Thr)
c.1565T>C (p.Met522Thr)
c.1538T>C (p.Met513Thr)
c.980T>C (p.Met327Thr)
c.890T>C (p.Met297Thr)
4g.72313800A>TCA357430969ADAMTS3c.1622T>A (p.Met541Lys)
c.1565T>A (p.Met522Lys)
c.1538T>A (p.Met513Lys)
c.980T>A (p.Met327Lys)
c.890T>A (p.Met297Lys)
4g.72313801T>ACA357430970ADAMTS3c.1621A>T (p.Met541Leu)
c.1564A>T (p.Met522Leu)
c.1537A>T (p.Met513Leu)
c.979A>T (p.Met327Leu)
c.889A>T (p.Met297Leu)
4g.72313801T>CCA357430971ADAMTS3c.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
4g.72313801T>GCA99549861ADAMTS3c.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
4g.72313801T=CA1467599985ADAMTS3c.1621A= (p.Met541=)
c.1564A= (p.Met522=)
c.1537A= (p.Met513=)
c.979A= (p.Met327=)
c.889A= (p.Met297=)
4g.72313802G>ACA439879157ADAMTS3c.1620C>T (p.Cys540=)
c.1563C>T (p.Cys521=)
c.1536C>T (p.Cys512=)
c.978C>T (p.Cys326=)
c.888C>T (p.Cys296=)
4g.72313802G>CCA357430972ADAMTS3c.1620C>G (p.Cys540Trp)
c.1563C>G (p.Cys521Trp)
c.1536C>G (p.Cys512Trp)
c.978C>G (p.Cys326Trp)
c.888C>G (p.Cys296Trp)
4g.72313802G>TCA357430973ADAMTS3c.1620C>A (p.Cys540Ter)
c.1563C>A (p.Cys521Ter)
c.1536C>A (p.Cys512Ter)
c.978C>A (p.Cys326Ter)
c.888C>A (p.Cys296Ter)
4g.72313803C>ACA357430974ADAMTS3c.1619G>T (p.Cys540Phe)
c.1562G>T (p.Cys521Phe)
c.1535G>T (p.Cys512Phe)
c.977G>T (p.Cys326Phe)
c.887G>T (p.Cys296Phe)
4g.72313803C>GCA357430976ADAMTS3c.1619G>C (p.Cys540Ser)
c.1562G>C (p.Cys521Ser)
c.1535G>C (p.Cys512Ser)
c.977G>C (p.Cys326Ser)
c.887G>C (p.Cys296Ser)
4g.72313803C>TCA357430975ADAMTS3c.1619G>A (p.Cys540Tyr)
c.1562G>A (p.Cys521Tyr)
c.1535G>A (p.Cys512Tyr)
c.977G>A (p.Cys326Tyr)
c.887G>A (p.Cys296Tyr)
4g.72313803_72313805delCA1064026332ADAMTS3c.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
4g.72313804A>CCA357430977ADAMTS3c.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
4g.72313804A>GCA357430979ADAMTS3c.1618T>C (p.Cys540Arg)
c.1561T>C (p.Cys521Arg)
c.1534T>C (p.Cys512Arg)
c.976T>C (p.Cys326Arg)
c.886T>C (p.Cys296Arg)
4g.72313804A>TCA357430978ADAMTS3c.1618T>A (p.Cys540Ser)
c.1561T>A (p.Cys521Ser)
c.1534T>A (p.Cys512Ser)
c.976T>A (p.Cys326Ser)
c.886T>A (p.Cys296Ser)
4g.72313805A>CCA357430980ADAMTS3c.1617T>G (p.His539Gln)
c.1560T>G (p.His520Gln)
c.1533T>G (p.His511Gln)
c.975T>G (p.His325Gln)
c.885T>G (p.His295Gln)
4g.72313805A>GCA439879158ADAMTS3c.1617T>C (p.His539=)
c.1560T>C (p.His520=)
c.1533T>C (p.His511=)
c.975T>C (p.His325=)
c.885T>C (p.His295=)
4g.72313805A>TCA357430981ADAMTS3c.1617T>A (p.His539Gln)
c.1560T>A (p.His520Gln)
c.1533T>A (p.His511Gln)
c.975T>A (p.His325Gln)
c.885T>A (p.His295Gln)
4g.72313806T>ACA357430982ADAMTS3c.1616A>T (p.His539Leu)
c.1559A>T (p.His520Leu)
c.1532A>T (p.His511Leu)
c.974A>T (p.His325Leu)
c.884A>T (p.His295Leu)
4g.72313806T>CCA357430983ADAMTS3c.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
4g.72313806T>GCA357430984ADAMTS3c.1616A>C (p.His539Pro)
c.1559A>C (p.His520Pro)
c.1532A>C (p.His511Pro)
c.974A>C (p.His325Pro)
c.884A>C (p.His295Pro)
4g.72313806T=CA1467599987ADAMTS3c.1616A= (p.His539=)
c.1559A= (p.His520=)
c.1532A= (p.His511=)
c.974A= (p.His325=)
c.884A= (p.His295=)
4g.72313807G>ACA99549862ADAMTS3c.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
4g.72313807G>CCA357430985ADAMTS3c.1615C>G (p.His539Asp)
c.1558C>G (p.His520Asp)
c.1531C>G (p.His511Asp)
c.973C>G (p.His325Asp)
c.883C>G (p.His295Asp)
4g.72313807G=CA1467599991ADAMTS3c.1615C= (p.His539=)
c.1558C= (p.His520=)
c.1531C= (p.His511=)
c.973C= (p.His325=)
c.883C= (p.His295=)
4g.72313807G>TCA357430986ADAMTS3c.1615C>A (p.His539Asn)
c.1558C>A (p.His520Asn)
c.1531C>A (p.His511Asn)
c.973C>A (p.His325Asn)
c.883C>A (p.His295Asn)
4g.72313807_72313808insGACA1064026338ADAMTS3c.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
4g.72313808A=CA1467599994ADAMTS3c.1614T= (p.Gly538=)
c.1557T= (p.Gly519=)
c.1530T= (p.Gly510=)
c.972T= (p.Gly324=)
c.882T= (p.Gly294=)
4g.72313808A>CCA439879159ADAMTS3c.1614T>G (p.Gly538=)
c.1557T>G (p.Gly519=)
c.1530T>G (p.Gly510=)
c.972T>G (p.Gly324=)
c.882T>G (p.Gly294=)
4g.72313808A>GCA439879160ADAMTS3c.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
4g.72313808A>TCA439879161ADAMTS3c.1614T>A (p.Gly538=)
c.1557T>A (p.Gly519=)
c.1530T>A (p.Gly510=)
c.972T>A (p.Gly324=)
c.882T>A (p.Gly294=)
4g.72313809C>ACA357430987ADAMTS3c.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
4g.72313809C=CA1467599997ADAMTS3c.1613G= (p.Gly538=)
c.1556G= (p.Gly519=)
c.1529G= (p.Gly510=)
c.971G= (p.Gly324=)
c.881G= (p.Gly294=)
4g.72313809C>GCA357430988ADAMTS3c.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
4g.72313809C>TCA357430989ADAMTS3c.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
4g.72313809_72313810insTGGTGTTCA1064026341ADAMTS3c.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
4g.72313810C>ACA357430991ADAMTS3c.1612G>T (p.Gly538Cys)
c.1555G>T (p.Gly519Cys)
c.1528G>T (p.Gly510Cys)
c.970G>T (p.Gly324Cys)
c.880G>T (p.Gly294Cys)
4g.72313810C=CA1467599998ADAMTS3c.1612G= (p.Gly538=)
c.1555G= (p.Gly519=)
c.1528G= (p.Gly510=)
c.970G= (p.Gly324=)
c.880G= (p.Gly294=)
4g.72313810C>GCA357430990ADAMTS3c.1612G>C (p.Gly538Arg)
c.1555G>C (p.Gly519Arg)
c.1528G>C (p.Gly510Arg)
c.970G>C (p.Gly324Arg)
c.880G>C (p.Gly294Arg)
4g.72313810C>TCA2956892ADAMTS3c.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
4g.72313811C>ACA357430992ADAMTS3c.1611G>T (p.Lys537Asn)
c.1554G>T (p.Lys518Asn)
c.1527G>T (p.Lys509Asn)
c.969G>T (p.Lys323Asn)
c.879G>T (p.Lys293Asn)
4g.72313811C=CA1467600001ADAMTS3c.1611G= (p.Lys537=)
c.1554G= (p.Lys518=)
c.1527G= (p.Lys509=)
c.969G= (p.Lys323=)
c.879G= (p.Lys293=)
4g.72313811C>GCA357430993ADAMTS3c.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
4g.72313811C>TCA439879163ADAMTS3c.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
4g.72313812T>ACA357430994ADAMTS3c.1610A>T (p.Lys537Met)
c.1553A>T (p.Lys518Met)
c.1526A>T (p.Lys509Met)
c.968A>T (p.Lys323Met)
c.878A>T (p.Lys293Met)
4g.72313812T>CCA357430995ADAMTS3c.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
4g.72313812T>GCA357430996ADAMTS3c.1610A>C (p.Lys537Thr)
c.1553A>C (p.Lys518Thr)
c.1526A>C (p.Lys509Thr)
c.968A>C (p.Lys323Thr)
c.878A>C (p.Lys293Thr)
4g.72313813delCA2670948939ADAMTS3c.1610del (p.Lys537ArgfsTer?)
c.1553del (p.Lys518ArgfsTer?)
c.1526del (p.Lys509ArgfsTer?)
c.968del (p.Lys323ArgfsTer?)
c.878del (p.Lys293ArgfsTer?)
 gnomAD v4
4g.72313813T>ACA357430997ADAMTS3c.1609A>T (p.Lys537Ter)
c.1552A>T (p.Lys518Ter)
c.1525A>T (p.Lys509Ter)
c.967A>T (p.Lys323Ter)
c.877A>T (p.Lys293Ter)
4g.72313813T>CCA357430998ADAMTS3c.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
4g.72313813T>GCA357430999ADAMTS3c.1609A>C (p.Lys537Gln)
c.1552A>C (p.Lys518Gln)
c.1525A>C (p.Lys509Gln)
c.967A>C (p.Lys323Gln)
c.877A>C (p.Lys293Gln)
4g.72313814A=CA1467600003ADAMTS3c.1608T= (p.Tyr536=)
c.1551T= (p.Tyr517=)
c.1524T= (p.Tyr508=)
c.966T= (p.Tyr322=)
c.876T= (p.Tyr292=)
4g.72313814A>CCA357431000ADAMTS3c.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
4g.72313814A>GCA439879164ADAMTS3c.1608T>C (p.Tyr536=)
c.1551T>C (p.Tyr517=)
c.1524T>C (p.Tyr508=)
c.966T>C (p.Tyr322=)
c.876T>C (p.Tyr292=)
4g.72313814A>TCA357431001ADAMTS3c.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
4g.72313815T>ACA357431003ADAMTS3c.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
4g.72313815T>CCA2956893ADAMTS3c.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
4g.72313815T>GCA357431002ADAMTS3c.1607A>C (p.Tyr536Ser)
c.1550A>C (p.Tyr517Ser)
c.1523A>C (p.Tyr508Ser)
c.965A>C (p.Tyr322Ser)
c.875A>C (p.Tyr292Ser)
4g.72313815T=CA1467600007ADAMTS3c.1607A= (p.Tyr536=)
c.1550A= (p.Tyr517=)
c.1523A= (p.Tyr508=)
c.965A= (p.Tyr322=)
c.875A= (p.Tyr292=)
4g.72313816A>CCA357431004ADAMTS3c.1606T>G (p.Tyr536Asp)
c.1549T>G (p.Tyr517Asp)
c.1522T>G (p.Tyr508Asp)
c.964T>G (p.Tyr322Asp)
c.874T>G (p.Tyr292Asp)
4g.72313816A>GCA357431005ADAMTS3c.1606T>C (p.Tyr536His)
c.1549T>C (p.Tyr517His)
c.1522T>C (p.Tyr508His)
c.964T>C (p.Tyr322His)
c.874T>C (p.Tyr292His)
4g.72313816A>TCA357431007ADAMTS3c.1606T>A (p.Tyr536Asn)
c.1549T>A (p.Tyr517Asn)
c.1522T>A (p.Tyr508Asn)
c.964T>A (p.Tyr322Asn)
c.874T>A (p.Tyr292Asn)
4g.72313817G>ACA439879165ADAMTS3c.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
4g.72313817G>CCA357431009ADAMTS3c.1605C>G (p.Cys535Trp)
c.1548C>G (p.Cys516Trp)
c.1521C>G (p.Cys507Trp)
c.963C>G (p.Cys321Trp)
c.873C>G (p.Cys291Trp)
4g.72313817G>TCA357431011ADAMTS3c.1605C>A (p.Cys535Ter)
c.1548C>A (p.Cys516Ter)
c.1521C>A (p.Cys507Ter)
c.963C>A (p.Cys321Ter)
c.873C>A (p.Cys291Ter)
4g.72313818C>ACA357431017ADAMTS3c.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
4g.72313818C>GCA357431015ADAMTS3c.1604G>C (p.Cys535Ser)
c.1547G>C (p.Cys516Ser)
c.1520G>C (p.Cys507Ser)
c.962G>C (p.Cys321Ser)
c.872G>C (p.Cys291Ser)
4g.72313818C>TCA357431014ADAMTS3c.1604G>A (p.Cys535Tyr)
c.1547G>A (p.Cys516Tyr)
c.1520G>A (p.Cys507Tyr)
c.962G>A (p.Cys321Tyr)
c.872G>A (p.Cys291Tyr)
4g.72313819A>CCA357431020ADAMTS3c.1603T>G (p.Cys535Gly)
c.1546T>G (p.Cys516Gly)
c.1519T>G (p.Cys507Gly)
c.961T>G (p.Cys321Gly)
c.871T>G (p.Cys291Gly)
4g.72313819A>GCA357431021ADAMTS3c.1603T>C (p.Cys535Arg)
c.1546T>C (p.Cys516Arg)
c.1519T>C (p.Cys507Arg)
c.961T>C (p.Cys321Arg)
c.871T>C (p.Cys291Arg)
4g.72313819A>TCA357431024ADAMTS3c.1603T>A (p.Cys535Ser)
c.1546T>A (p.Cys516Ser)
c.1519T>A (p.Cys507Ser)
c.961T>A (p.Cys321Ser)
c.871T>A (p.Cys291Ser)
4g.72313819_72313824delinsACCACTCA1467600012ADAMTS3c.1600-2_1603delinsAGTGGT
c.1543-2_1546delinsAGTGGT
c.1516-2_1519delinsAGTGGT
c.958-2_961delinsAGTGGT
c.868-2_871delinsAGTGGT
4g.72313820C>ACA2956894ADAMTS3c.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
4g.72313820C=CA1467600016ADAMTS3c.1602G= (p.Trp534=)
c.1545G= (p.Trp515=)
c.1518G= (p.Trp506=)
c.960G= (p.Trp320=)
c.870G= (p.Trp290=)
4g.72313820C>GCA357431028ADAMTS3c.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
4g.72313820C>TCA357431030ADAMTS3c.1602G>A (p.Trp534Ter)
c.1545G>A (p.Trp515Ter)
c.1518G>A (p.Trp506Ter)
c.960G>A (p.Trp320Ter)
c.870G>A (p.Trp290Ter)
4g.72313820_72313824delCA552478972ADAMTS3c.1600-2_1602del
c.1543-2_1545del
c.1516-2_1518del
c.958-2_960del
c.868-2_870del
 dbSNP gnomAD v2
4g.72313821C>ACA357431032ADAMTS3c.1601G>T (p.Trp534Leu)
c.1544G>T (p.Trp515Leu)
c.1517G>T (p.Trp506Leu)
c.959G>T (p.Trp320Leu)
c.869G>T (p.Trp290Leu)
4g.72313821C=CA1467600021ADAMTS3c.1601G= (p.Trp534=)
c.1544G= (p.Trp515=)
c.1517G= (p.Trp506=)
c.959G= (p.Trp320=)
c.869G= (p.Trp290=)
4g.72313821C>GCA357431037ADAMTS3c.1601G>C (p.Trp534Ser)
c.1544G>C (p.Trp515Ser)
c.1517G>C (p.Trp506Ser)
c.959G>C (p.Trp320Ser)
c.869G>C (p.Trp290Ser)
4g.72313821C>TCA357431034ADAMTS3c.1601G>A (p.Trp534Ter)
c.1544G>A (p.Trp515Ter)
c.1517G>A (p.Trp506Ter)
c.959G>A (p.Trp320Ter)
c.869G>A (p.Trp290Ter)
4g.72313822A=CA1467600023ADAMTS3c.1600T= (p.Trp534=)
c.1543T= (p.Trp515=)
c.1516T= (p.Trp506=)
c.958T= (p.Trp320=)
c.868T= (p.Trp290=)
4g.72313822A>CCA357431039ADAMTS3c.1600T>G (p.Trp534Gly)
c.1543T>G (p.Trp515Gly)
c.1516T>G (p.Trp506Gly)
c.958T>G (p.Trp320Gly)
c.868T>G (p.Trp290Gly)
4g.72313822A>GCA357431041ADAMTS3c.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
4g.72313822A>TCA357431043ADAMTS3c.1600T>A (p.Trp534Arg)
c.1543T>A (p.Trp515Arg)
c.1516T>A (p.Trp506Arg)
c.958T>A (p.Trp320Arg)
c.868T>A (p.Trp290Arg)
4g.72313822dupCA552478975ADAMTS3c.1600dup (p.Trp534LeufsTer4)
c.1543dup (p.Trp515LeufsTer4)
c.1516dup (p.Trp506LeufsTer4)
c.958dup (p.Trp320LeufsTer4)
c.868dup (p.Trp290LeufsTer4)
 dbSNP gnomAD v2 gnomAD v4
4g.72313823C>ACA357431046ADAMTS3c.1600-1G>T (n.1600-1G>T)
c.1543-1G>T (n.1543-1G>T)
c.1516-1G>T (n.1516-1G>T)
c.958-1G>T (n.958-1G>T)
c.868-1G>T (n.868-1G>T)
 gnomAD v4
4g.72313823C>GCA357431047ADAMTS3c.1600-1G>C (n.1600-1G>C)
c.1543-1G>C (n.1543-1G>C)
c.1516-1G>C (n.1516-1G>C)
c.958-1G>C (n.958-1G>C)
c.868-1G>C (n.868-1G>C)
4g.72313823C>TCA357431049ADAMTS3c.1600-1G>A (n.1600-1G>A)
c.1543-1G>A (n.1543-1G>A)
c.1516-1G>A (n.1516-1G>A)
c.958-1G>A (n.958-1G>A)
c.868-1G>A (n.868-1G>A)
4g.72313824T>ACA357431051ADAMTS3c.1600-2A>T (n.1600-2A>T)
c.1543-2A>T (n.1543-2A>T)
c.1516-2A>T (n.1516-2A>T)
c.958-2A>T (n.958-2A>T)
c.868-2A>T (n.868-2A>T)
4g.72313824T>CCA357431052ADAMTS3c.1600-2A>G (n.1600-2A>G)
c.1543-2A>G (n.1543-2A>G)
c.1516-2A>G (n.1516-2A>G)
c.958-2A>G (n.958-2A>G)
c.868-2A>G (n.868-2A>G)
4g.72313824T>GCA357431054ADAMTS3c.1600-2A>C (n.1600-2A>C)
c.1543-2A>C (n.1543-2A>C)
c.1516-2A>C (n.1516-2A>C)
c.958-2A>C (n.958-2A>C)
c.868-2A>C (n.868-2A>C)
4g.72313825T>CCA99549863ADAMTS3c.1600-3A>G (n.1600-3A>G)
c.1543-3A>G (n.1543-3A>G)
c.1516-3A>G (n.1516-3A>G)
c.958-3A>G (n.958-3A>G)
c.868-3A>G (n.868-3A>G)
 dbSNP
4g.72313825T>GCA552478976ADAMTS3c.1600-3A>C (n.1600-3A>C)
c.1543-3A>C (n.1543-3A>C)
c.1516-3A>C (n.1516-3A>C)
c.958-3A>C (n.958-3A>C)
c.868-3A>C (n.868-3A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.72313825T=CA1467600025ADAMTS3c.1600-3A= (n.1600-3A=)
c.1543-3A= (n.1543-3A=)
c.1516-3A= (n.1516-3A=)
c.958-3A= (n.958-3A=)
c.868-3A= (n.868-3A=)
4g.72313827G>ACA2956895ADAMTS3c.1600-5C>T (n.1600-5C>T)
c.1543-5C>T (n.1543-5C>T)
c.1516-5C>T (n.1516-5C>T)
c.958-5C>T (n.958-5C>T)
c.868-5C>T (n.868-5C>T)
 dbSNP ExAC
4g.72313827G=CA1467600027ADAMTS3c.1600-5C= (n.1600-5C=)
c.1543-5C= (n.1543-5C=)
c.1516-5C= (n.1516-5C=)
c.958-5C= (n.958-5C=)
c.868-5C= (n.868-5C=)
4g.72313828A=CA1467600030ADAMTS3c.1600-6T= (n.1600-6T=)
c.1543-6T= (n.1543-6T=)
c.1516-6T= (n.1516-6T=)
c.958-6T= (n.958-6T=)
c.868-6T= (n.868-6T=)
4g.72313828A>CCA2956896ADAMTS3c.1600-6T>G (n.1600-6T>G)
c.1543-6T>G (n.1543-6T>G)
c.1516-6T>G (n.1516-6T>G)
c.958-6T>G (n.958-6T>G)
c.868-6T>G (n.868-6T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.72313832dupCA2762151612ADAMTS3c.1600-6dup (n.1600-6dup)
c.1543-6dup (n.1543-6dup)
c.1516-6dup (n.1516-6dup)
c.958-6dup (n.958-6dup)
c.868-6dup (n.868-6dup)
4g.72313834G>ACA2956897ADAMTS3c.1600-12C>T (n.1600-12C>T)
c.1543-12C>T (n.1543-12C>T)
c.1516-12C>T (n.1516-12C>T)
c.958-12C>T (n.958-12C>T)
c.868-12C>T (n.868-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.72313834G=CA1467600033ADAMTS3c.1600-12C= (n.1600-12C=)
c.1543-12C= (n.1543-12C=)
c.1516-12C= (n.1516-12C=)
c.958-12C= (n.958-12C=)
c.868-12C= (n.868-12C=)
4g.72313834G>TCA2670948940ADAMTS3c.1600-12C>A (n.1600-12C>A)
c.1543-12C>A (n.1543-12C>A)
c.1516-12C>A (n.1516-12C>A)
c.958-12C>A (n.958-12C>A)
c.868-12C>A (n.868-12C>A)
 gnomAD v4
4g.72313835dupCA1467600036ADAMTS3c.1600-13dup (n.1600-13dup)
c.1543-13dup (n.1543-13dup)
c.1516-13dup (n.1516-13dup)
c.958-13dup (n.958-13dup)
c.868-13dup (n.868-13dup)
 dbSNP
4g.72313836C=CA1467600038ADAMTS3c.1600-14G= (n.1600-14G=)
c.1543-14G= (n.1543-14G=)
c.1516-14G= (n.1516-14G=)
c.958-14G= (n.958-14G=)
c.868-14G= (n.868-14G=)
4g.72313836C>TCA798160755ADAMTS3c.1600-14G>A (n.1600-14G>A)
c.1543-14G>A (n.1543-14G>A)
c.1516-14G>A (n.1516-14G>A)
c.958-14G>A (n.958-14G>A)
c.868-14G>A (n.868-14G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.72313838A>CCA2578109975ADAMTS3c.1600-16T>G (n.1600-16T>G)
c.1543-16T>G (n.1543-16T>G)
c.1516-16T>G (n.1516-16T>G)
c.958-16T>G (n.958-16T>G)
c.868-16T>G (n.868-16T>G)
 gnomAD v4
4g.72313841G>ACA552478978ADAMTS3c.1600-19C>T (n.1600-19C>T)
c.1543-19C>T (n.1543-19C>T)
c.1516-19C>T (n.1516-19C>T)
c.958-19C>T (n.958-19C>T)
c.868-19C>T (n.868-19C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.72313841G=CA1467600039ADAMTS3c.1600-19C= (n.1600-19C=)
c.1543-19C= (n.1543-19C=)
c.1516-19C= (n.1516-19C=)
c.958-19C= (n.958-19C=)
c.868-19C= (n.868-19C=)
4g.72313842G>CCA798160759ADAMTS3c.1600-20C>G (n.1600-20C>G)
c.1543-20C>G (n.1543-20C>G)
c.1516-20C>G (n.1516-20C>G)
c.958-20C>G (n.958-20C>G)
c.868-20C>G (n.868-20C>G)
 dbSNP
4g.72313842G=CA1467600042ADAMTS3c.1600-20C= (n.1600-20C=)
c.1543-20C= (n.1543-20C=)
c.1516-20C= (n.1516-20C=)
c.958-20C= (n.958-20C=)
c.868-20C= (n.868-20C=)
4g.72313842G>TCA798160765ADAMTS3c.1600-20C>A (n.1600-20C>A)
c.1543-20C>A (n.1543-20C>A)
c.1516-20C>A (n.1516-20C>A)
c.958-20C>A (n.958-20C>A)
c.868-20C>A (n.868-20C>A)
 dbSNP
4g.72313846T>CCA2578109976ADAMTS3c.1600-24A>G (n.1600-24A>G)
c.1543-24A>G (n.1543-24A>G)
c.1516-24A>G (n.1516-24A>G)
c.958-24A>G (n.958-24A>G)
c.868-24A>G (n.868-24A>G)
 dbSNP gnomAD v4
4g.72313849T>CCA2578109977ADAMTS3c.1600-27A>G (n.1600-27A>G)
c.1543-27A>G (n.1543-27A>G)
c.1516-27A>G (n.1516-27A>G)
c.958-27A>G (n.958-27A>G)
c.868-27A>G (n.868-27A>G)
 gnomAD v4
4g.72313849T>GCA2578109978ADAMTS3c.1600-27A>C (n.1600-27A>C)
c.1543-27A>C (n.1543-27A>C)
c.1516-27A>C (n.1516-27A>C)
c.958-27A>C (n.958-27A>C)
c.868-27A>C (n.868-27A>C)
4g.72313850T>CCA2578109979ADAMTS3c.1600-28A>G (n.1600-28A>G)
c.1543-28A>G (n.1543-28A>G)
c.1516-28A>G (n.1516-28A>G)
c.958-28A>G (n.958-28A>G)
c.868-28A>G (n.868-28A>G)
 gnomAD v4
4g.72313851A>GCA2670948941ADAMTS3c.1600-29T>C (n.1600-29T>C)
c.1543-29T>C (n.1543-29T>C)
c.1516-29T>C (n.1516-29T>C)
c.958-29T>C (n.958-29T>C)
c.868-29T>C (n.868-29T>C)
 gnomAD v4
4g.72313855T>ACA2670948942ADAMTS3c.1600-33A>T (n.1600-33A>T)
c.1543-33A>T (n.1543-33A>T)
c.1516-33A>T (n.1516-33A>T)
c.958-33A>T (n.958-33A>T)
c.868-33A>T (n.868-33A>T)
 gnomAD v4
4g.72313858C>ACA2670948943ADAMTS3c.1600-36G>T (n.1600-36G>T)
c.1543-36G>T (n.1543-36G>T)
c.1516-36G>T (n.1516-36G>T)
c.958-36G>T (n.958-36G>T)
c.868-36G>T (n.868-36G>T)
 gnomAD v4
4g.72313858C=CA1467600045ADAMTS3c.1600-36G= (n.1600-36G=)
c.1543-36G= (n.1543-36G=)
c.1516-36G= (n.1516-36G=)
c.958-36G= (n.958-36G=)
c.868-36G= (n.868-36G=)
4g.72313858C>GCA2670948944ADAMTS3c.1600-36G>C (n.1600-36G>C)
c.1543-36G>C (n.1543-36G>C)
c.1516-36G>C (n.1516-36G>C)
c.958-36G>C (n.958-36G>C)
c.868-36G>C (n.868-36G>C)
 gnomAD v4
4g.72313858C>TCA2956898ADAMTS3c.1600-36G>A (n.1600-36G>A)
c.1543-36G>A (n.1543-36G>A)
c.1516-36G>A (n.1516-36G>A)
c.958-36G>A (n.958-36G>A)
c.868-36G>A (n.868-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.72313859G>ACA2956899ADAMTS3c.1600-37C>T (n.1600-37C>T)
c.1543-37C>T (n.1543-37C>T)
c.1516-37C>T (n.1516-37C>T)
c.958-37C>T (n.958-37C>T)
c.868-37C>T (n.868-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.72313859G>CCA1467600049ADAMTS3c.1600-37C>G (n.1600-37C>G)
c.1543-37C>G (n.1543-37C>G)
c.1516-37C>G (n.1516-37C>G)
c.958-37C>G (n.958-37C>G)
c.868-37C>G (n.868-37C>G)
 dbSNP gnomAD v4
4g.72313859G=CA1467600047ADAMTS3c.1600-37C= (n.1600-37C=)
c.1543-37C= (n.1543-37C=)
c.1516-37C= (n.1516-37C=)
c.958-37C= (n.958-37C=)
c.868-37C= (n.868-37C=)
4g.72313859G>TCA2578109980ADAMTS3c.1600-37C>A (n.1600-37C>A)
c.1543-37C>A (n.1543-37C>A)
c.1516-37C>A (n.1516-37C>A)
c.958-37C>A (n.958-37C>A)
c.868-37C>A (n.868-37C>A)
4g.72313861A=CA1467600050ADAMTS3c.1600-39T= (n.1600-39T=)
c.1543-39T= (n.1543-39T=)
c.1516-39T= (n.1516-39T=)
c.958-39T= (n.958-39T=)
c.868-39T= (n.868-39T=)
4g.72313861A>GCA552478979ADAMTS3c.1600-39T>C (n.1600-39T>C)
c.1543-39T>C (n.1543-39T>C)
c.1516-39T>C (n.1516-39T>C)
c.958-39T>C (n.958-39T>C)
c.868-39T>C (n.868-39T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.72313862T>CCA2956900ADAMTS3c.1600-40A>G (n.1600-40A>G)
c.1543-40A>G (n.1543-40A>G)
c.1516-40A>G (n.1516-40A>G)
c.958-40A>G (n.958-40A>G)
c.868-40A>G (n.868-40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.72313862T=CA1467600052ADAMTS3c.1600-40A= (n.1600-40A=)
c.1543-40A= (n.1543-40A=)
c.1516-40A= (n.1516-40A=)
c.958-40A= (n.958-40A=)
c.868-40A= (n.868-40A=)
4g.72313865A=CA1467600054ADAMTS3c.1600-43T= (n.1600-43T=)
c.1543-43T= (n.1543-43T=)
c.1516-43T= (n.1516-43T=)
c.958-43T= (n.958-43T=)
c.868-43T= (n.868-43T=)
4g.72313865A>GCA798160776ADAMTS3c.1600-43T>C (n.1600-43T>C)
c.1543-43T>C (n.1543-43T>C)
c.1516-43T>C (n.1516-43T>C)
c.958-43T>C (n.958-43T>C)
c.868-43T>C (n.868-43T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.72313866C=CA1467600056ADAMTS3c.1600-44G= (n.1600-44G=)
c.1543-44G= (n.1543-44G=)
c.1516-44G= (n.1516-44G=)
c.958-44G= (n.958-44G=)
c.868-44G= (n.868-44G=)
4g.72313866C>TCA1467600057ADAMTS3c.1600-44G>A (n.1600-44G>A)
c.1543-44G>A (n.1543-44G>A)
c.1516-44G>A (n.1516-44G>A)
c.958-44G>A (n.958-44G>A)
c.868-44G>A (n.868-44G>A)
 dbSNP gnomAD v4
4g.72313867T>CCA2670948945ADAMTS3c.1600-45A>G (n.1600-45A>G)
c.1543-45A>G (n.1543-45A>G)
c.1516-45A>G (n.1516-45A>G)
c.958-45A>G (n.958-45A>G)
c.868-45A>G (n.868-45A>G)
 gnomAD v4
4g.72313870delCA2670948946ADAMTS3c.1600-46del (n.1600-46del)
c.1543-46del (n.1543-46del)
c.1516-46del (n.1516-46del)
c.958-46del (n.958-46del)
c.868-46del (n.868-46del)
 gnomAD v4
4g.72313869A=CA1467600060ADAMTS3c.1600-47T= (n.1600-47T=)
c.1543-47T= (n.1543-47T=)
c.1516-47T= (n.1516-47T=)
c.958-47T= (n.958-47T=)
c.868-47T= (n.868-47T=)
4g.72313869A>CCA552478981ADAMTS3c.1600-47T>G (n.1600-47T>G)
c.1543-47T>G (n.1543-47T>G)
c.1516-47T>G (n.1516-47T>G)
c.958-47T>G (n.958-47T>G)
c.868-47T>G (n.868-47T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.72313871G=CA1467600062ADAMTS3c.1600-49C= (n.1600-49C=)
c.1543-49C= (n.1543-49C=)
c.1516-49C= (n.1516-49C=)
c.958-49C= (n.958-49C=)
c.868-49C= (n.868-49C=)
4g.72313871G>TCA552478982ADAMTS3c.1600-49C>A (n.1600-49C>A)
c.1543-49C>A (n.1543-49C>A)
c.1516-49C>A (n.1516-49C>A)
c.958-49C>A (n.958-49C>A)
c.868-49C>A (n.868-49C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched