Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.72313823C>A | CA357431046 | ADAMTS3 | c.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 |
4 | g.72313823C>G | CA357431047 | ADAMTS3 | c.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) | |
4 | g.72313823C>T | CA357431049 | ADAMTS3 | c.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) | |
4 | g.72313824T>A | CA357431051 | ADAMTS3 | c.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) | |
4 | g.72313824T>C | CA357431052 | ADAMTS3 | c.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) | |
4 | g.72313824T>G | CA357431054 | ADAMTS3 | c.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) | |
4 | g.72313825T>C | CA99549863 | ADAMTS3 | c.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 |
4 | g.72313825T>G | CA552478976 | ADAMTS3 | c.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 |
4 | g.72313825T= | CA1467600025 | ADAMTS3 | c.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=) | |
4 | g.72313827G>A | CA2956895 | ADAMTS3 | c.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 |
4 | g.72313827G= | CA1467600027 | ADAMTS3 | c.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=) | |
4 | g.72313828A= | CA1467600030 | ADAMTS3 | c.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=) | |
4 | g.72313828A>C | CA2956896 | ADAMTS3 | c.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 |
4 | g.72313832dup | CA2762151612 | ADAMTS3 | c.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) | |
4 | g.72313834G>A | CA2956897 | ADAMTS3 | c.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 |
4 | g.72313834G= | CA1467600033 | ADAMTS3 | c.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=) | |
4 | g.72313834G>T | CA2670948940 | ADAMTS3 | c.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 |
4 | g.72313835dup | CA1467600036 | ADAMTS3 | c.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 |
4 | g.72313836C= | CA1467600038 | ADAMTS3 | c.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=) | |
4 | g.72313836C>T | CA798160755 | ADAMTS3 | c.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 |
4 | g.72313838A>C | CA2578109975 | ADAMTS3 | c.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 |
4 | g.72313841G>A | CA552478978 | ADAMTS3 | c.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 |
4 | g.72313841G= | CA1467600039 | ADAMTS3 | c.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=) | |
4 | g.72313842G>C | CA798160759 | ADAMTS3 | c.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 |
4 | g.72313842G= | CA1467600042 | ADAMTS3 | c.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=) | |
4 | g.72313842G>T | CA798160765 | ADAMTS3 | c.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 |
4 | g.72313846T>C | CA2578109976 | ADAMTS3 | c.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 |
4 | g.72313849T>C | CA2578109977 | ADAMTS3 | c.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 |
4 | g.72313849T>G | CA2578109978 | ADAMTS3 | c.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) | |
4 | g.72313850T>C | CA2578109979 | ADAMTS3 | c.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 |
4 | g.72313851A>G | CA2670948941 | ADAMTS3 | c.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 |
4 | g.72313855T>A | CA2670948942 | ADAMTS3 | c.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 |
4 | g.72313858C>A | CA2670948943 | ADAMTS3 | c.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 |
4 | g.72313858C= | CA1467600045 | ADAMTS3 | c.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=) | |
4 | g.72313858C>G | CA2670948944 | ADAMTS3 | c.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 |
4 | g.72313858C>T | CA2956898 | ADAMTS3 | c.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 |
4 | g.72313859G>A | CA2956899 | ADAMTS3 | c.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 |
4 | g.72313859G>C | CA1467600049 | ADAMTS3 | c.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 |
4 | g.72313859G= | CA1467600047 | ADAMTS3 | c.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=) | |
4 | g.72313859G>T | CA2578109980 | ADAMTS3 | c.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) | |
4 | g.72313861A= | CA1467600050 | ADAMTS3 | c.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=) | |
4 | g.72313861A>G | CA552478979 | ADAMTS3 | c.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 |
4 | g.72313862T>C | CA2956900 | ADAMTS3 | c.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 |
4 | g.72313862T= | CA1467600052 | ADAMTS3 | c.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=) | |
4 | g.72313865A= | CA1467600054 | ADAMTS3 | c.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=) | |
4 | g.72313865A>G | CA798160776 | ADAMTS3 | c.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 |
4 | g.72313866C= | CA1467600056 | ADAMTS3 | c.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=) | |
4 | g.72313866C>T | CA1467600057 | ADAMTS3 | c.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 |
4 | g.72313867T>C | CA2670948945 | ADAMTS3 | c.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 |
4 | g.72313870del | CA2670948946 | ADAMTS3 | c.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 |
4 | g.72313869A= | CA1467600060 | ADAMTS3 | c.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=) | |
4 | g.72313869A>C | CA552478981 | ADAMTS3 | c.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 |
4 | g.72313871G= | CA1467600062 | ADAMTS3 | c.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=) | |
4 | g.72313871G>T | CA552478982 | ADAMTS3 | c.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 |
4 | g.72313877G>C | CA1467600065 | ADAMTS3 | c.1600-55C>G (n.1600-55C>G) c.1543-55C>G (n.1543-55C>G) c.1516-55C>G (n.1516-55C>G) c.958-55C>G (n.958-55C>G) c.868-55C>G (n.868-55C>G) | dbSNP |
4 | g.72313877G= | CA1467600067 | ADAMTS3 | c.1600-55C= (n.1600-55C=) c.1543-55C= (n.1543-55C=) c.1516-55C= (n.1516-55C=) c.958-55C= (n.958-55C=) c.868-55C= (n.868-55C=) | |
4 | g.72313880_72313882del | CA2670948947 | ADAMTS3 | c.1600-57_1600-55del (n.1600-57_1600-55del) c.1543-57_1543-55del (n.1543-57_1543-55del) c.1516-57_1516-55del (n.1516-57_1516-55del) c.958-57_958-55del (n.958-57_958-55del) c.868-57_868-55del (n.868-57_868-55del) | gnomAD v4 |
4 | g.72313878T>G | CA2670948948 | ADAMTS3 | c.1600-56A>C (n.1600-56A>C) c.1543-56A>C (n.1543-56A>C) c.1516-56A>C (n.1516-56A>C) c.958-56A>C (n.958-56A>C) c.868-56A>C (n.868-56A>C) | gnomAD v4 |
4 | g.72313880G>A | CA99549864 | ADAMTS3 | c.1600-58C>T (n.1600-58C>T) c.1543-58C>T (n.1543-58C>T) c.1516-58C>T (n.1516-58C>T) c.958-58C>T (n.958-58C>T) c.868-58C>T (n.868-58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313880G= | CA1467600068 | ADAMTS3 | c.1600-58C= (n.1600-58C=) c.1543-58C= (n.1543-58C=) c.1516-58C= (n.1516-58C=) c.958-58C= (n.958-58C=) c.868-58C= (n.868-58C=) | |
4 | g.72313880G>T | CA99549865 | ADAMTS3 | c.1600-58C>A (n.1600-58C>A) c.1543-58C>A (n.1543-58C>A) c.1516-58C>A (n.1516-58C>A) c.958-58C>A (n.958-58C>A) c.868-58C>A (n.868-58C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313882dup | CA2578109981 | ADAMTS3 | c.1600-59dup (n.1600-59dup) c.1543-59dup (n.1543-59dup) c.1516-59dup (n.1516-59dup) c.958-59dup (n.958-59dup) c.868-59dup (n.868-59dup) | gnomAD v4 |
4 | g.72313882del | CA2670948949 | ADAMTS3 | c.1600-59del (n.1600-59del) c.1543-59del (n.1543-59del) c.1516-59del (n.1516-59del) c.958-59del (n.958-59del) c.868-59del (n.868-59del) | gnomAD v4 |
4 | g.72313884T>C | CA2670948950 | ADAMTS3 | c.1600-62A>G (n.1600-62A>G) c.1543-62A>G (n.1543-62A>G) c.1516-62A>G (n.1516-62A>G) c.958-62A>G (n.958-62A>G) c.868-62A>G (n.868-62A>G) | gnomAD v4 |
4 | g.72313885A>T | CA2670948951 | ADAMTS3 | c.1600-63T>A (n.1600-63T>A) c.1543-63T>A (n.1543-63T>A) c.1516-63T>A (n.1516-63T>A) c.958-63T>A (n.958-63T>A) c.868-63T>A (n.868-63T>A) | gnomAD v4 |
4 | g.72313886C>A | CA2670948952 | ADAMTS3 | c.1600-64G>T (n.1600-64G>T) c.1543-64G>T (n.1543-64G>T) c.1516-64G>T (n.1516-64G>T) c.958-64G>T (n.958-64G>T) c.868-64G>T (n.868-64G>T) | gnomAD v4 |
4 | g.72313886C= | CA1467600072 | ADAMTS3 | c.1600-64G= (n.1600-64G=) c.1543-64G= (n.1543-64G=) c.1516-64G= (n.1516-64G=) c.958-64G= (n.958-64G=) c.868-64G= (n.868-64G=) | |
4 | g.72313886C>T | CA1467600073 | ADAMTS3 | c.1600-64G>A (n.1600-64G>A) c.1543-64G>A (n.1543-64G>A) c.1516-64G>A (n.1516-64G>A) c.958-64G>A (n.958-64G>A) c.868-64G>A (n.868-64G>A) | dbSNP gnomAD v4 |
4 | g.72313887A>G | CA2578109982 | ADAMTS3 | c.1600-65T>C (n.1600-65T>C) c.1543-65T>C (n.1543-65T>C) c.1516-65T>C (n.1516-65T>C) c.958-65T>C (n.958-65T>C) c.868-65T>C (n.868-65T>C) | |
4 | g.72313888A= | CA1467600075 | ADAMTS3 | c.1600-66T= (n.1600-66T=) c.1543-66T= (n.1543-66T=) c.1516-66T= (n.1516-66T=) c.958-66T= (n.958-66T=) c.868-66T= (n.868-66T=) | |
4 | g.72313888A>C | CA798160781 | ADAMTS3 | c.1600-66T>G (n.1600-66T>G) c.1543-66T>G (n.1543-66T>G) c.1516-66T>G (n.1516-66T>G) c.958-66T>G (n.958-66T>G) c.868-66T>G (n.868-66T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.72313889G>T | CA2670948953 | ADAMTS3 | c.1600-67C>A (n.1600-67C>A) c.1543-67C>A (n.1543-67C>A) c.1516-67C>A (n.1516-67C>A) c.958-67C>A (n.958-67C>A) c.868-67C>A (n.868-67C>A) | gnomAD v4 |