Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.72313648_72313666delinsAATAACAAGAGTTACAAGG | CA1467599748 | ADAMTS3 | c.1745+11_1745+29delinsCCTTGTAACTCTTGTTATT (n.1745+11_1745+29delinsCCTTGTAACTCTTGTTATT) c.1688+11_1688+29delinsCCTTGTAACTCTTGTTATT (n.1688+11_1688+29delinsCCTTGTAACTCTTGTTATT) c.1661+11_1661+29delinsCCTTGTAACTCTTGTTATT (n.1661+11_1661+29delinsCCTTGTAACTCTTGTTATT) c.1103+11_1103+29delinsCCTTGTAACTCTTGTTATT (n.1103+11_1103+29delinsCCTTGTAACTCTTGTTATT) c.1013+11_1013+29delinsCCTTGTAACTCTTGTTATT (n.1013+11_1013+29delinsCCTTGTAACTCTTGTTATT) | |
4 | g.72313652_72313669del | CA552478875 | ADAMTS3 | c.1745+11_1745+28del (n.1745+11_1745+28del) c.1688+11_1688+28del (n.1688+11_1688+28del) c.1661+11_1661+28del (n.1661+11_1661+28del) c.1103+11_1103+28del (n.1103+11_1103+28del) c.1013+11_1013+28del (n.1013+11_1013+28del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313662C= | CA1467599766 | ADAMTS3 | c.1745+15G= (n.1745+15G=) c.1688+15G= (n.1688+15G=) c.1661+15G= (n.1661+15G=) c.1103+15G= (n.1103+15G=) c.1013+15G= (n.1013+15G=) | |
4 | g.72313662C>G | CA552478884 | ADAMTS3 | c.1745+15G>C (n.1745+15G>C) c.1688+15G>C (n.1688+15G>C) c.1661+15G>C (n.1661+15G>C) c.1103+15G>C (n.1103+15G>C) c.1013+15G>C (n.1013+15G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313662_72313663delinsCA | CA1467599768 | ADAMTS3 | c.1745+14_1745+15delinsTG (n.1745+14_1745+15delinsTG) c.1688+14_1688+15delinsTG (n.1688+14_1688+15delinsTG) c.1661+14_1661+15delinsTG (n.1661+14_1661+15delinsTG) c.1103+14_1103+15delinsTG (n.1103+14_1103+15delinsTG) c.1013+14_1013+15delinsTG (n.1013+14_1013+15delinsTG) | |
4 | g.72313663A>G | CA2670948935 | ADAMTS3 | c.1745+14T>C (n.1745+14T>C) c.1688+14T>C (n.1688+14T>C) c.1661+14T>C (n.1661+14T>C) c.1103+14T>C (n.1103+14T>C) c.1013+14T>C (n.1013+14T>C) | gnomAD v4 |
4 | g.72313664del | CA552478886 | ADAMTS3 | c.1745+14del (n.1745+14del) c.1688+14del (n.1688+14del) c.1661+14del (n.1661+14del) c.1103+14del (n.1103+14del) c.1013+14del (n.1013+14del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313664A= | CA1467599773 | ADAMTS3 | c.1745+13T= (n.1745+13T=) c.1688+13T= (n.1688+13T=) c.1661+13T= (n.1661+13T=) c.1103+13T= (n.1103+13T=) c.1013+13T= (n.1013+13T=) | |
4 | g.72313664A>T | CA552478888 | ADAMTS3 | c.1745+13T>A (n.1745+13T>A) c.1688+13T>A (n.1688+13T>A) c.1661+13T>A (n.1661+13T>A) c.1103+13T>A (n.1103+13T>A) c.1013+13T>A (n.1013+13T>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313665G>A | CA2670948936 | ADAMTS3 | c.1745+12C>T (n.1745+12C>T) c.1688+12C>T (n.1688+12C>T) c.1661+12C>T (n.1661+12C>T) c.1103+12C>T (n.1103+12C>T) c.1013+12C>T (n.1013+12C>T) | gnomAD v4 |
4 | g.72313666G>A | CA552478889 | ADAMTS3 | c.1745+11C>T (n.1745+11C>T) c.1688+11C>T (n.1688+11C>T) c.1661+11C>T (n.1661+11C>T) c.1103+11C>T (n.1103+11C>T) c.1013+11C>T (n.1013+11C>T) | dbSNP gnomAD v2 |
4 | g.72313666G= | CA1467599775 | ADAMTS3 | c.1745+11C= (n.1745+11C=) c.1688+11C= (n.1688+11C=) c.1661+11C= (n.1661+11C=) c.1103+11C= (n.1103+11C=) c.1013+11C= (n.1013+11C=) | |
4 | g.72313667A= | CA1467599776 | ADAMTS3 | c.1745+10T= (n.1745+10T=) c.1688+10T= (n.1688+10T=) c.1661+10T= (n.1661+10T=) c.1103+10T= (n.1103+10T=) c.1013+10T= (n.1013+10T=) | |
4 | g.72313667A>T | CA1467599778 | ADAMTS3 | c.1745+10T>A (n.1745+10T>A) c.1688+10T>A (n.1688+10T>A) c.1661+10T>A (n.1661+10T>A) c.1103+10T>A (n.1103+10T>A) c.1013+10T>A (n.1013+10T>A) | dbSNP |
4 | g.72313668T>C | CA552478891 | ADAMTS3 | c.1745+9A>G (n.1745+9A>G) c.1688+9A>G (n.1688+9A>G) c.1661+9A>G (n.1661+9A>G) c.1103+9A>G (n.1103+9A>G) c.1013+9A>G (n.1013+9A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313668T= | CA1467599780 | ADAMTS3 | c.1745+9A= (n.1745+9A=) c.1688+9A= (n.1688+9A=) c.1661+9A= (n.1661+9A=) c.1103+9A= (n.1103+9A=) c.1013+9A= (n.1013+9A=) | |
4 | g.72313669A= | CA1467599784 | ADAMTS3 | c.1745+8T= (n.1745+8T=) c.1688+8T= (n.1688+8T=) c.1661+8T= (n.1661+8T=) c.1103+8T= (n.1103+8T=) c.1013+8T= (n.1013+8T=) | |
4 | g.72313669A>T | CA99549856 | ADAMTS3 | c.1745+8T>A (n.1745+8T>A) c.1688+8T>A (n.1688+8T>A) c.1661+8T>A (n.1661+8T>A) c.1103+8T>A (n.1103+8T>A) c.1013+8T>A (n.1013+8T>A) | dbSNP gnomAD v2 |
4 | g.72313670T>C | CA552478892 | ADAMTS3 | c.1745+7A>G (n.1745+7A>G) c.1688+7A>G (n.1688+7A>G) c.1661+7A>G (n.1661+7A>G) c.1103+7A>G (n.1103+7A>G) c.1013+7A>G (n.1013+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313670T= | CA1467599787 | ADAMTS3 | c.1745+7A= (n.1745+7A=) c.1688+7A= (n.1688+7A=) c.1661+7A= (n.1661+7A=) c.1103+7A= (n.1103+7A=) c.1013+7A= (n.1013+7A=) | |
4 | g.72313672C= | CA1467599788 | ADAMTS3 | c.1745+5G= (n.1745+5G=) c.1688+5G= (n.1688+5G=) c.1661+5G= (n.1661+5G=) c.1103+5G= (n.1103+5G=) c.1013+5G= (n.1013+5G=) | |
4 | g.72313672C>T | CA552478893 | ADAMTS3 | c.1745+5G>A (n.1745+5G>A) c.1688+5G>A (n.1688+5G>A) c.1661+5G>A (n.1661+5G>A) c.1103+5G>A (n.1103+5G>A) c.1013+5G>A (n.1013+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313673T>C | CA2670948937 | ADAMTS3 | c.1745+4A>G (n.1745+4A>G) c.1688+4A>G (n.1688+4A>G) c.1661+4A>G (n.1661+4A>G) c.1103+4A>G (n.1103+4A>G) c.1013+4A>G (n.1013+4A>G) | gnomAD v4 |
4 | g.72313675A>C | CA357430692 | ADAMTS3 | c.1745+2T>G (n.1745+2T>G) c.1688+2T>G (n.1688+2T>G) c.1661+2T>G (n.1661+2T>G) c.1103+2T>G (n.1103+2T>G) c.1013+2T>G (n.1013+2T>G) | |
4 | g.72313675A>G | CA357430690 | ADAMTS3 | c.1745+2T>C (n.1745+2T>C) c.1688+2T>C (n.1688+2T>C) c.1661+2T>C (n.1661+2T>C) c.1103+2T>C (n.1103+2T>C) c.1013+2T>C (n.1013+2T>C) | |
4 | g.72313675A>T | CA357430691 | ADAMTS3 | c.1745+2T>A (n.1745+2T>A) c.1688+2T>A (n.1688+2T>A) c.1661+2T>A (n.1661+2T>A) c.1103+2T>A (n.1103+2T>A) c.1013+2T>A (n.1013+2T>A) | |
4 | g.72313676C>A | CA357430693 | ADAMTS3 | c.1745+1G>T (n.1745+1G>T) c.1688+1G>T (n.1688+1G>T) c.1661+1G>T (n.1661+1G>T) c.1103+1G>T (n.1103+1G>T) c.1013+1G>T (n.1013+1G>T) | gnomAD v4 COSMIC |
4 | g.72313676C>G | CA357430694 | ADAMTS3 | c.1745+1G>C (n.1745+1G>C) c.1688+1G>C (n.1688+1G>C) c.1661+1G>C (n.1661+1G>C) c.1103+1G>C (n.1103+1G>C) c.1013+1G>C (n.1013+1G>C) | |
4 | g.72313676C>T | CA357430695 | ADAMTS3 | c.1745+1G>A (n.1745+1G>A) c.1688+1G>A (n.1688+1G>A) c.1661+1G>A (n.1661+1G>A) c.1103+1G>A (n.1103+1G>A) c.1013+1G>A (n.1013+1G>A) | |
4 | g.72313677A= | CA1467599793 | ADAMTS3 | c.1745T= (p.Met582=) c.1688T= (p.Met563=) c.1661T= (p.Met554=) c.1103T= (p.Met368=) c.1013T= (p.Met338=) | |
4 | g.72313677A>C | CA357430696 | ADAMTS3 | c.1745T>G (p.Met582Arg) c.1688T>G (p.Met563Arg) c.1661T>G (p.Met554Arg) c.1103T>G (p.Met368Arg) c.1013T>G (p.Met338Arg) | dbSNP |
4 | g.72313677A>G | CA357430697 | ADAMTS3 | c.1745T>C (p.Met582Thr) c.1688T>C (p.Met563Thr) c.1661T>C (p.Met554Thr) c.1103T>C (p.Met368Thr) c.1013T>C (p.Met338Thr) | |
4 | g.72313677A>T | CA357430698 | ADAMTS3 | c.1745T>A (p.Met582Lys) c.1688T>A (p.Met563Lys) c.1661T>A (p.Met554Lys) c.1103T>A (p.Met368Lys) c.1013T>A (p.Met338Lys) | |
4 | g.72313678T>A | CA357430699 | ADAMTS3 | c.1744A>T (p.Met582Leu) c.1687A>T (p.Met563Leu) c.1660A>T (p.Met554Leu) c.1102A>T (p.Met368Leu) c.1012A>T (p.Met338Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313678T>C | CA357430700 | ADAMTS3 | c.1744A>G (p.Met582Val) c.1687A>G (p.Met563Val) c.1660A>G (p.Met554Val) c.1102A>G (p.Met368Val) c.1012A>G (p.Met338Val) | gnomAD v4 |
4 | g.72313678T>G | CA357430701 | ADAMTS3 | c.1744A>C (p.Met582Leu) c.1687A>C (p.Met563Leu) c.1660A>C (p.Met554Leu) c.1102A>C (p.Met368Leu) c.1012A>C (p.Met338Leu) | |
4 | g.72313678T= | CA1467599796 | ADAMTS3 | c.1744A= (p.Met582=) c.1687A= (p.Met563=) c.1660A= (p.Met554=) c.1102A= (p.Met368=) c.1012A= (p.Met338=) | |
4 | g.72313679G>A | CA2956865 | ADAMTS3 | c.1743C>T (p.Pro581=) c.1686C>T (p.Pro562=) c.1659C>T (p.Pro553=) c.1101C>T (p.Pro367=) c.1011C>T (p.Pro337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313679G>C | CA439879057 | ADAMTS3 | c.1743C>G (p.Pro581=) c.1686C>G (p.Pro562=) c.1659C>G (p.Pro553=) c.1101C>G (p.Pro367=) c.1011C>G (p.Pro337=) | |
4 | g.72313679G= | CA1467599799 | ADAMTS3 | c.1743C= (p.Pro581=) c.1686C= (p.Pro562=) c.1659C= (p.Pro553=) c.1101C= (p.Pro367=) c.1011C= (p.Pro337=) | |
4 | g.72313679G>T | CA439879058 | ADAMTS3 | c.1743C>A (p.Pro581=) c.1686C>A (p.Pro562=) c.1659C>A (p.Pro553=) c.1101C>A (p.Pro367=) c.1011C>A (p.Pro337=) | |
4 | g.72313680G>A | CA357430703 | ADAMTS3 | c.1742C>T (p.Pro581Leu) c.1685C>T (p.Pro562Leu) c.1658C>T (p.Pro553Leu) c.1100C>T (p.Pro367Leu) c.1010C>T (p.Pro337Leu) | |
4 | g.72313680G>C | CA357430704 | ADAMTS3 | c.1742C>G (p.Pro581Arg) c.1685C>G (p.Pro562Arg) c.1658C>G (p.Pro553Arg) c.1100C>G (p.Pro367Arg) c.1010C>G (p.Pro337Arg) | gnomAD v4 |
4 | g.72313680G>T | CA357430702 | ADAMTS3 | c.1742C>A (p.Pro581His) c.1685C>A (p.Pro562His) c.1658C>A (p.Pro553His) c.1100C>A (p.Pro367His) c.1010C>A (p.Pro337His) | |
4 | g.72313681G>A | CA357430705 | ADAMTS3 | c.1741C>T (p.Pro581Ser) c.1684C>T (p.Pro562Ser) c.1657C>T (p.Pro553Ser) c.1099C>T (p.Pro367Ser) c.1009C>T (p.Pro337Ser) | |
4 | g.72313681G>C | CA357430706 | ADAMTS3 | c.1741C>G (p.Pro581Ala) c.1684C>G (p.Pro562Ala) c.1657C>G (p.Pro553Ala) c.1099C>G (p.Pro367Ala) c.1009C>G (p.Pro337Ala) | |
4 | g.72313681G>T | CA357430707 | ADAMTS3 | c.1741C>A (p.Pro581Thr) c.1684C>A (p.Pro562Thr) c.1657C>A (p.Pro553Thr) c.1099C>A (p.Pro367Thr) c.1009C>A (p.Pro337Thr) | |
4 | g.72313682A>C | CA357430708 | ADAMTS3 | c.1740T>G (p.Asn580Lys) c.1683T>G (p.Asn561Lys) c.1656T>G (p.Asn552Lys) c.1098T>G (p.Asn366Lys) c.1008T>G (p.Asn336Lys) | |
4 | g.72313682A>G | CA439879061 | ADAMTS3 | c.1740T>C (p.Asn580=) c.1683T>C (p.Asn561=) c.1656T>C (p.Asn552=) c.1098T>C (p.Asn366=) c.1008T>C (p.Asn336=) | |
4 | g.72313682A>T | CA357430709 | ADAMTS3 | c.1740T>A (p.Asn580Lys) c.1683T>A (p.Asn561Lys) c.1656T>A (p.Asn552Lys) c.1098T>A (p.Asn366Lys) c.1008T>A (p.Asn336Lys) | |
4 | g.72313683T>A | CA357430712 | ADAMTS3 | c.1739A>T (p.Asn580Ile) c.1682A>T (p.Asn561Ile) c.1655A>T (p.Asn552Ile) c.1097A>T (p.Asn366Ile) c.1007A>T (p.Asn336Ile) | |
4 | g.72313683T>C | CA357430710 | ADAMTS3 | c.1739A>G (p.Asn580Ser) c.1682A>G (p.Asn561Ser) c.1655A>G (p.Asn552Ser) c.1097A>G (p.Asn366Ser) c.1007A>G (p.Asn336Ser) | |
4 | g.72313683T>G | CA357430711 | ADAMTS3 | c.1739A>C (p.Asn580Thr) c.1682A>C (p.Asn561Thr) c.1655A>C (p.Asn552Thr) c.1097A>C (p.Asn366Thr) c.1007A>C (p.Asn336Thr) | |
4 | g.72313684T>A | CA357430713 | ADAMTS3 | c.1738A>T (p.Asn580Tyr) c.1681A>T (p.Asn561Tyr) c.1654A>T (p.Asn552Tyr) c.1096A>T (p.Asn366Tyr) c.1006A>T (p.Asn336Tyr) | |
4 | g.72313684T>C | CA357430714 | ADAMTS3 | c.1738A>G (p.Asn580Asp) c.1681A>G (p.Asn561Asp) c.1654A>G (p.Asn552Asp) c.1096A>G (p.Asn366Asp) c.1006A>G (p.Asn336Asp) | |
4 | g.72313684T>G | CA357430715 | ADAMTS3 | c.1738A>C (p.Asn580His) c.1681A>C (p.Asn561His) c.1654A>C (p.Asn552His) c.1096A>C (p.Asn366His) c.1006A>C (p.Asn336His) | |
4 | g.72313685A>C | CA357430716 | ADAMTS3 | c.1737T>G (p.Asn579Lys) c.1680T>G (p.Asn560Lys) c.1653T>G (p.Asn551Lys) c.1095T>G (p.Asn365Lys) c.1005T>G (p.Asn335Lys) | |
4 | g.72313685A>G | CA439879069 | ADAMTS3 | c.1737T>C (p.Asn579=) c.1680T>C (p.Asn560=) c.1653T>C (p.Asn551=) c.1095T>C (p.Asn365=) c.1005T>C (p.Asn335=) | |
4 | g.72313685A>T | CA357430717 | ADAMTS3 | c.1737T>A (p.Asn579Lys) c.1680T>A (p.Asn560Lys) c.1653T>A (p.Asn551Lys) c.1095T>A (p.Asn365Lys) c.1005T>A (p.Asn335Lys) | |
4 | g.72313686T>A | CA357430720 | ADAMTS3 | c.1736A>T (p.Asn579Ile) c.1679A>T (p.Asn560Ile) c.1652A>T (p.Asn551Ile) c.1094A>T (p.Asn365Ile) c.1004A>T (p.Asn335Ile) | |
4 | g.72313686T>C | CA357430719 | ADAMTS3 | c.1736A>G (p.Asn579Ser) c.1679A>G (p.Asn560Ser) c.1652A>G (p.Asn551Ser) c.1094A>G (p.Asn365Ser) c.1004A>G (p.Asn335Ser) | gnomAD v4 |
4 | g.72313686T>G | CA357430718 | ADAMTS3 | c.1736A>C (p.Asn579Thr) c.1679A>C (p.Asn560Thr) c.1652A>C (p.Asn551Thr) c.1094A>C (p.Asn365Thr) c.1004A>C (p.Asn335Thr) | gnomAD v4 |
4 | g.72313687T>A | CA357430721 | ADAMTS3 | c.1735A>T (p.Asn579Tyr) c.1678A>T (p.Asn560Tyr) c.1651A>T (p.Asn551Tyr) c.1093A>T (p.Asn365Tyr) c.1003A>T (p.Asn335Tyr) | |
4 | g.72313687T>C | CA357430722 | ADAMTS3 | c.1735A>G (p.Asn579Asp) c.1678A>G (p.Asn560Asp) c.1651A>G (p.Asn551Asp) c.1093A>G (p.Asn365Asp) c.1003A>G (p.Asn335Asp) | |
4 | g.72313687T>G | CA357430723 | ADAMTS3 | c.1735A>C (p.Asn579His) c.1678A>C (p.Asn560His) c.1651A>C (p.Asn551His) c.1093A>C (p.Asn365His) c.1003A>C (p.Asn335His) | |
4 | g.72313688G>A | CA439879073 | ADAMTS3 | c.1734C>T (p.Cys578=) c.1677C>T (p.Cys559=) c.1650C>T (p.Cys550=) c.1092C>T (p.Cys364=) c.1002C>T (p.Cys334=) | dbSNP gnomAD v2 |
4 | g.72313688G>C | CA357430724 | ADAMTS3 | c.1734C>G (p.Cys578Trp) c.1677C>G (p.Cys559Trp) c.1650C>G (p.Cys550Trp) c.1092C>G (p.Cys364Trp) c.1002C>G (p.Cys334Trp) | |
4 | g.72313688G= | CA1467599804 | ADAMTS3 | c.1734C= (p.Cys578=) c.1677C= (p.Cys559=) c.1650C= (p.Cys550=) c.1092C= (p.Cys364=) c.1002C= (p.Cys334=) | |
4 | g.72313688G>T | CA357430725 | ADAMTS3 | c.1734C>A (p.Cys578Ter) c.1677C>A (p.Cys559Ter) c.1650C>A (p.Cys550Ter) c.1092C>A (p.Cys364Ter) c.1002C>A (p.Cys334Ter) | |
4 | g.72313689C>A | CA357430726 | ADAMTS3 | c.1733G>T (p.Cys578Phe) c.1676G>T (p.Cys559Phe) c.1649G>T (p.Cys550Phe) c.1091G>T (p.Cys364Phe) c.1001G>T (p.Cys334Phe) | |
4 | g.72313689C>G | CA357430727 | ADAMTS3 | c.1733G>C (p.Cys578Ser) c.1676G>C (p.Cys559Ser) c.1649G>C (p.Cys550Ser) c.1091G>C (p.Cys364Ser) c.1001G>C (p.Cys334Ser) | |
4 | g.72313689C>T | CA357430728 | ADAMTS3 | c.1733G>A (p.Cys578Tyr) c.1676G>A (p.Cys559Tyr) c.1649G>A (p.Cys550Tyr) c.1091G>A (p.Cys364Tyr) c.1001G>A (p.Cys334Tyr) | gnomAD v4 |
4 | g.72313690A>C | CA357430729 | ADAMTS3 | c.1732T>G (p.Cys578Gly) c.1675T>G (p.Cys559Gly) c.1648T>G (p.Cys550Gly) c.1090T>G (p.Cys364Gly) c.1000T>G (p.Cys334Gly) | |
4 | g.72313690A>G | CA357430730 | ADAMTS3 | c.1732T>C (p.Cys578Arg) c.1675T>C (p.Cys559Arg) c.1648T>C (p.Cys550Arg) c.1090T>C (p.Cys364Arg) c.1000T>C (p.Cys334Arg) | |
4 | g.72313690A>T | CA357430731 | ADAMTS3 | c.1732T>A (p.Cys578Ser) c.1675T>A (p.Cys559Ser) c.1648T>A (p.Cys550Ser) c.1090T>A (p.Cys364Ser) c.1000T>A (p.Cys334Ser) | |
4 | g.72313691C>A | CA357430732 | ADAMTS3 | c.1731G>T (p.Gln577His) c.1674G>T (p.Gln558His) c.1647G>T (p.Gln549His) c.1089G>T (p.Gln363His) c.999G>T (p.Gln333His) | |
4 | g.72313691C= | CA1467599807 | ADAMTS3 | c.1731G= (p.Gln577=) c.1674G= (p.Gln558=) c.1647G= (p.Gln549=) c.1089G= (p.Gln363=) c.999G= (p.Gln333=) | |
4 | g.72313691C>G | CA2956866 | ADAMTS3 | c.1731G>C (p.Gln577His) c.1674G>C (p.Gln558His) c.1647G>C (p.Gln549His) c.1089G>C (p.Gln363His) c.999G>C (p.Gln333His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.72313691C>T | CA439879079 | ADAMTS3 | c.1731G>A (p.Gln577=) c.1674G>A (p.Gln558=) c.1647G>A (p.Gln549=) c.1089G>A (p.Gln363=) c.999G>A (p.Gln333=) | |
4 | g.72313692T>A | CA357430735 | ADAMTS3 | c.1730A>T (p.Gln577Leu) c.1673A>T (p.Gln558Leu) c.1646A>T (p.Gln549Leu) c.1088A>T (p.Gln363Leu) c.998A>T (p.Gln333Leu) | |
4 | g.72313692T>C | CA357430733 | ADAMTS3 | c.1730A>G (p.Gln577Arg) c.1673A>G (p.Gln558Arg) c.1646A>G (p.Gln549Arg) c.1088A>G (p.Gln363Arg) c.998A>G (p.Gln333Arg) | dbSNP |
4 | g.72313692T>G | CA357430734 | ADAMTS3 | c.1730A>C (p.Gln577Pro) c.1673A>C (p.Gln558Pro) c.1646A>C (p.Gln549Pro) c.1088A>C (p.Gln363Pro) c.998A>C (p.Gln333Pro) | |
4 | g.72313692T= | CA1467599808 | ADAMTS3 | c.1730A= (p.Gln577=) c.1673A= (p.Gln558=) c.1646A= (p.Gln549=) c.1088A= (p.Gln363=) c.998A= (p.Gln333=) | |
4 | g.72313693G>A | CA357430736 | ADAMTS3 | c.1729C>T (p.Gln577Ter) c.1672C>T (p.Gln558Ter) c.1645C>T (p.Gln549Ter) c.1087C>T (p.Gln363Ter) c.997C>T (p.Gln333Ter) | |
4 | g.72313693G>C | CA357430737 | ADAMTS3 | c.1729C>G (p.Gln577Glu) c.1672C>G (p.Gln558Glu) c.1645C>G (p.Gln549Glu) c.1087C>G (p.Gln363Glu) c.997C>G (p.Gln333Glu) | |
4 | g.72313693G>T | CA357430738 | ADAMTS3 | c.1729C>A (p.Gln577Lys) c.1672C>A (p.Gln558Lys) c.1645C>A (p.Gln549Lys) c.1087C>A (p.Gln363Lys) c.997C>A (p.Gln333Lys) | |
4 | g.72313694G>A | CA439879083 | ADAMTS3 | c.1728C>T (p.Arg576=) c.1671C>T (p.Arg557=) c.1644C>T (p.Arg548=) c.1086C>T (p.Arg362=) c.996C>T (p.Arg332=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313694G>C | CA439879082 | ADAMTS3 | c.1728C>G (p.Arg576=) c.1671C>G (p.Arg557=) c.1644C>G (p.Arg548=) c.1086C>G (p.Arg362=) c.996C>G (p.Arg332=) | |
4 | g.72313694G= | CA1467599810 | ADAMTS3 | c.1728C= (p.Arg576=) c.1671C= (p.Arg557=) c.1644C= (p.Arg548=) c.1086C= (p.Arg362=) c.996C= (p.Arg332=) | |
4 | g.72313694G>T | CA439879080 | ADAMTS3 | c.1728C>A (p.Arg576=) c.1671C>A (p.Arg557=) c.1644C>A (p.Arg548=) c.1086C>A (p.Arg362=) c.996C>A (p.Arg332=) | |
4 | g.72313695C>A | CA2956868 | ADAMTS3 | c.1727G>T (p.Arg576Leu) c.1670G>T (p.Arg557Leu) c.1643G>T (p.Arg548Leu) c.1085G>T (p.Arg362Leu) c.995G>T (p.Arg332Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.72313695C= | CA1467599812 | ADAMTS3 | c.1727G= (p.Arg576=) c.1670G= (p.Arg557=) c.1643G= (p.Arg548=) c.1085G= (p.Arg362=) c.995G= (p.Arg332=) | |
4 | g.72313695C>G | CA357430739 | ADAMTS3 | c.1727G>C (p.Arg576Pro) c.1670G>C (p.Arg557Pro) c.1643G>C (p.Arg548Pro) c.1085G>C (p.Arg362Pro) c.995G>C (p.Arg332Pro) | |
4 | g.72313695C>T | CA2956867 | ADAMTS3 | c.1727G>A (p.Arg576His) c.1670G>A (p.Arg557His) c.1643G>A (p.Arg548His) c.1085G>A (p.Arg362His) c.995G>A (p.Arg332His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.72313696G>A | CA357430740 | ADAMTS3 | c.1726C>T (p.Arg576Cys) c.1669C>T (p.Arg557Cys) c.1642C>T (p.Arg548Cys) c.1084C>T (p.Arg362Cys) c.994C>T (p.Arg332Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313696G>C | CA357430741 | ADAMTS3 | c.1726C>G (p.Arg576Gly) c.1669C>G (p.Arg557Gly) c.1642C>G (p.Arg548Gly) c.1084C>G (p.Arg362Gly) c.994C>G (p.Arg332Gly) | COSMIC |
4 | g.72313696G= | CA1467599818 | ADAMTS3 | c.1726C= (p.Arg576=) c.1669C= (p.Arg557=) c.1642C= (p.Arg548=) c.1084C= (p.Arg362=) c.994C= (p.Arg332=) | |
4 | g.72313696G>T | CA357430742 | ADAMTS3 | c.1726C>A (p.Arg576Ser) c.1669C>A (p.Arg557Ser) c.1642C>A (p.Arg548Ser) c.1084C>A (p.Arg362Ser) c.994C>A (p.Arg332Ser) | |
4 | g.72313697T>A | CA439879087 | ADAMTS3 | c.1725A>T (p.Thr575=) c.1668A>T (p.Thr556=) c.1641A>T (p.Thr547=) c.1083A>T (p.Thr361=) c.993A>T (p.Thr331=) | |
4 | g.72313697T>C | CA439879089 | ADAMTS3 | c.1725A>G (p.Thr575=) c.1668A>G (p.Thr556=) c.1641A>G (p.Thr547=) c.1083A>G (p.Thr361=) c.993A>G (p.Thr331=) | |
4 | g.72313697T>G | CA439879088 | ADAMTS3 | c.1725A>C (p.Thr575=) c.1668A>C (p.Thr556=) c.1641A>C (p.Thr547=) c.1083A>C (p.Thr361=) c.993A>C (p.Thr331=) | |
4 | g.72313698G>A | CA2956869 | ADAMTS3 | c.1724C>T (p.Thr575Ile) c.1667C>T (p.Thr556Ile) c.1640C>T (p.Thr547Ile) c.1082C>T (p.Thr361Ile) c.992C>T (p.Thr331Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.72313698G>C | CA357430743 | ADAMTS3 | c.1724C>G (p.Thr575Arg) c.1667C>G (p.Thr556Arg) c.1640C>G (p.Thr547Arg) c.1082C>G (p.Thr361Arg) c.992C>G (p.Thr331Arg) | |
4 | g.72313698G= | CA1467599824 | ADAMTS3 | c.1724C= (p.Thr575=) c.1667C= (p.Thr556=) c.1640C= (p.Thr547=) c.1082C= (p.Thr361=) c.992C= (p.Thr331=) | |
4 | g.72313698G>T | CA357430744 | ADAMTS3 | c.1724C>A (p.Thr575Lys) c.1667C>A (p.Thr556Lys) c.1640C>A (p.Thr547Lys) c.1082C>A (p.Thr361Lys) c.992C>A (p.Thr331Lys) | |
4 | g.72313699T>A | CA357430745 | ADAMTS3 | c.1723A>T (p.Thr575Ser) c.1666A>T (p.Thr556Ser) c.1639A>T (p.Thr547Ser) c.1081A>T (p.Thr361Ser) c.991A>T (p.Thr331Ser) | |
4 | g.72313699T>C | CA2956870 | ADAMTS3 | c.1723A>G (p.Thr575Ala) c.1666A>G (p.Thr556Ala) c.1639A>G (p.Thr547Ala) c.1081A>G (p.Thr361Ala) c.991A>G (p.Thr331Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.72313699T>G | CA357430746 | ADAMTS3 | c.1723A>C (p.Thr575Pro) c.1666A>C (p.Thr556Pro) c.1639A>C (p.Thr547Pro) c.1081A>C (p.Thr361Pro) c.991A>C (p.Thr331Pro) | |
4 | g.72313699T= | CA1467599828 | ADAMTS3 | c.1723A= (p.Thr575=) c.1666A= (p.Thr556=) c.1639A= (p.Thr547=) c.1081A= (p.Thr361=) c.991A= (p.Thr331=) | |
4 | g.72313700T>A | CA357430747 | ADAMTS3 | c.1722A>T (p.Arg574Ser) c.1665A>T (p.Arg555Ser) c.1638A>T (p.Arg546Ser) c.1080A>T (p.Arg360Ser) c.990A>T (p.Arg330Ser) | |
4 | g.72313700T>C | CA2956871 | ADAMTS3 | c.1722A>G (p.Arg574=) c.1665A>G (p.Arg555=) c.1638A>G (p.Arg546=) c.1080A>G (p.Arg360=) c.990A>G (p.Arg330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.72313700T>G | CA357430748 | ADAMTS3 | c.1722A>C (p.Arg574Ser) c.1665A>C (p.Arg555Ser) c.1638A>C (p.Arg546Ser) c.1080A>C (p.Arg360Ser) c.990A>C (p.Arg330Ser) | |
4 | g.72313700T= | CA1467599830 | ADAMTS3 | c.1722A= (p.Arg574=) c.1665A= (p.Arg555=) c.1638A= (p.Arg546=) c.1080A= (p.Arg360=) c.990A= (p.Arg330=) | |
4 | g.72313701C>A | CA357430749 | ADAMTS3 | c.1721G>T (p.Arg574Ile) c.1664G>T (p.Arg555Ile) c.1637G>T (p.Arg546Ile) c.1079G>T (p.Arg360Ile) c.989G>T (p.Arg330Ile) | gnomAD v4 |
4 | g.72313701C>G | CA357430751 | ADAMTS3 | c.1721G>C (p.Arg574Thr) c.1664G>C (p.Arg555Thr) c.1637G>C (p.Arg546Thr) c.1079G>C (p.Arg360Thr) c.989G>C (p.Arg330Thr) | |
4 | g.72313701C>T | CA357430750 | ADAMTS3 | c.1721G>A (p.Arg574Lys) c.1664G>A (p.Arg555Lys) c.1637G>A (p.Arg546Lys) c.1079G>A (p.Arg360Lys) c.989G>A (p.Arg330Lys) | COSMIC |
4 | g.72313702T>A | CA357430752 | ADAMTS3 | c.1720A>T (p.Arg574Ter) c.1663A>T (p.Arg555Ter) c.1636A>T (p.Arg546Ter) c.1078A>T (p.Arg360Ter) c.988A>T (p.Arg330Ter) | |
4 | g.72313702T>C | CA357430753 | ADAMTS3 | c.1720A>G (p.Arg574Gly) c.1663A>G (p.Arg555Gly) c.1636A>G (p.Arg546Gly) c.1078A>G (p.Arg360Gly) c.988A>G (p.Arg330Gly) | |
4 | g.72313702T>G | CA439879095 | ADAMTS3 | c.1720A>C (p.Arg574=) c.1663A>C (p.Arg555=) c.1636A>C (p.Arg546=) c.1078A>C (p.Arg360=) c.988A>C (p.Arg330=) | |
4 | g.72313703G>A | CA439879097 | ADAMTS3 | c.1719C>T (p.Phe573=) c.1662C>T (p.Phe554=) c.1635C>T (p.Phe545=) c.1077C>T (p.Phe359=) c.987C>T (p.Phe329=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.72313703G>C | CA357430754 | ADAMTS3 | c.1719C>G (p.Phe573Leu) c.1662C>G (p.Phe554Leu) c.1635C>G (p.Phe545Leu) c.1077C>G (p.Phe359Leu) c.987C>G (p.Phe329Leu) | |
4 | g.72313703G= | CA1467599834 | ADAMTS3 | c.1719C= (p.Phe573=) c.1662C= (p.Phe554=) c.1635C= (p.Phe545=) c.1077C= (p.Phe359=) c.987C= (p.Phe329=) | |
4 | g.72313703G>T | CA357430755 | ADAMTS3 | c.1719C>A (p.Phe573Leu) c.1662C>A (p.Phe554Leu) c.1635C>A (p.Phe545Leu) c.1077C>A (p.Phe359Leu) c.987C>A (p.Phe329Leu) | COSMIC |
4 | g.72313704A>C | CA357430756 | ADAMTS3 | c.1718T>G (p.Phe573Cys) c.1661T>G (p.Phe554Cys) c.1634T>G (p.Phe545Cys) c.1076T>G (p.Phe359Cys) c.986T>G (p.Phe329Cys) | |
4 | g.72313704A>G | CA357430757 | ADAMTS3 | c.1718T>C (p.Phe573Ser) c.1661T>C (p.Phe554Ser) c.1634T>C (p.Phe545Ser) c.1076T>C (p.Phe359Ser) c.986T>C (p.Phe329Ser) | |
4 | g.72313704A>T | CA357430758 | ADAMTS3 | c.1718T>A (p.Phe573Tyr) c.1661T>A (p.Phe554Tyr) c.1634T>A (p.Phe545Tyr) c.1076T>A (p.Phe359Tyr) c.986T>A (p.Phe329Tyr) | |
4 | g.72313705A>C | CA357430759 | ADAMTS3 | c.1717T>G (p.Phe573Val) c.1660T>G (p.Phe554Val) c.1633T>G (p.Phe545Val) c.1075T>G (p.Phe359Val) c.985T>G (p.Phe329Val) | |
4 | g.72313705A>G | CA357430760 | ADAMTS3 | c.1717T>C (p.Phe573Leu) c.1660T>C (p.Phe554Leu) c.1633T>C (p.Phe545Leu) c.1075T>C (p.Phe359Leu) c.985T>C (p.Phe329Leu) | |
4 | g.72313705A>T | CA357430761 | ADAMTS3 | c.1717T>A (p.Phe573Ile) c.1660T>A (p.Phe554Ile) c.1633T>A (p.Phe545Ile) c.1075T>A (p.Phe359Ile) c.985T>A (p.Phe329Ile) | |
4 | g.72313706A>C | CA439879102 | ADAMTS3 | c.1716T>G (p.Arg572=) c.1659T>G (p.Arg553=) c.1632T>G (p.Arg544=) c.1074T>G (p.Arg358=) c.984T>G (p.Arg328=) | |
4 | g.72313706A>G | CA439879103 | ADAMTS3 | c.1716T>C (p.Arg572=) c.1659T>C (p.Arg553=) c.1632T>C (p.Arg544=) c.1074T>C (p.Arg358=) c.984T>C (p.Arg328=) | |
4 | g.72313706A>T | CA439879104 | ADAMTS3 | c.1716T>A (p.Arg572=) c.1659T>A (p.Arg553=) c.1632T>A (p.Arg544=) c.1074T>A (p.Arg358=) c.984T>A (p.Arg328=) | |
4 | g.72313707C>A | CA357430762 | ADAMTS3 | c.1715G>T (p.Arg572Leu) c.1658G>T (p.Arg553Leu) c.1631G>T (p.Arg544Leu) c.1073G>T (p.Arg358Leu) c.983G>T (p.Arg328Leu) | |
4 | g.72313707C= | CA1467599838 | ADAMTS3 | c.1715G= (p.Arg572=) c.1658G= (p.Arg553=) c.1631G= (p.Arg544=) c.1073G= (p.Arg358=) c.983G= (p.Arg328=) | |
4 | g.72313707C>G | CA357430763 | ADAMTS3 | c.1715G>C (p.Arg572Pro) c.1658G>C (p.Arg553Pro) c.1631G>C (p.Arg544Pro) c.1073G>C (p.Arg358Pro) c.983G>C (p.Arg328Pro) | |
4 | g.72313707C>T | CA2956872 | ADAMTS3 | c.1715G>A (p.Arg572His) c.1658G>A (p.Arg553His) c.1631G>A (p.Arg544His) c.1073G>A (p.Arg358His) c.983G>A (p.Arg328His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.72313708G>A | CA2956873 | ADAMTS3 | c.1714C>T (p.Arg572Cys) c.1657C>T (p.Arg553Cys) c.1630C>T (p.Arg544Cys) c.1072C>T (p.Arg358Cys) c.982C>T (p.Arg328Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.72313708G>C | CA2956874 | ADAMTS3 | c.1714C>G (p.Arg572Gly) c.1657C>G (p.Arg553Gly) c.1630C>G (p.Arg544Gly) c.1072C>G (p.Arg358Gly) c.982C>G (p.Arg328Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313708G= | CA1467599844 | ADAMTS3 | c.1714C= (p.Arg572=) c.1657C= (p.Arg553=) c.1630C= (p.Arg544=) c.1072C= (p.Arg358=) c.982C= (p.Arg328=) | |
4 | g.72313708G>T | CA357430764 | ADAMTS3 | c.1714C>A (p.Arg572Ser) c.1657C>A (p.Arg553Ser) c.1630C>A (p.Arg544Ser) c.1072C>A (p.Arg358Ser) c.982C>A (p.Arg328Ser) | |
4 | g.72313709A>C | CA439879105 | ADAMTS3 | c.1713T>G (p.Val571=) c.1656T>G (p.Val552=) c.1629T>G (p.Val543=) c.1071T>G (p.Val357=) c.981T>G (p.Val327=) | |
4 | g.72313709A>G | CA439879106 | ADAMTS3 | c.1713T>C (p.Val571=) c.1656T>C (p.Val552=) c.1629T>C (p.Val543=) c.1071T>C (p.Val357=) c.981T>C (p.Val327=) | |
4 | g.72313709A>T | CA439879107 | ADAMTS3 | c.1713T>A (p.Val571=) c.1656T>A (p.Val552=) c.1629T>A (p.Val543=) c.1071T>A (p.Val357=) c.981T>A (p.Val327=) | |
4 | g.72313710A>C | CA357430765 | ADAMTS3 | c.1712T>G (p.Val571Gly) c.1655T>G (p.Val552Gly) c.1628T>G (p.Val543Gly) c.1070T>G (p.Val357Gly) c.980T>G (p.Val327Gly) | |
4 | g.72313710A>G | CA357430766 | ADAMTS3 | c.1712T>C (p.Val571Ala) c.1655T>C (p.Val552Ala) c.1628T>C (p.Val543Ala) c.1070T>C (p.Val357Ala) c.980T>C (p.Val327Ala) | |
4 | g.72313710A>T | CA357430767 | ADAMTS3 | c.1712T>A (p.Val571Asp) c.1655T>A (p.Val552Asp) c.1628T>A (p.Val543Asp) c.1070T>A (p.Val357Asp) c.980T>A (p.Val327Asp) | |
4 | g.72313711C>A | CA357430768 | ADAMTS3 | c.1711G>T (p.Val571Phe) c.1654G>T (p.Val552Phe) c.1627G>T (p.Val543Phe) c.1069G>T (p.Val357Phe) c.979G>T (p.Val327Phe) | |
4 | g.72313711C>G | CA357430769 | ADAMTS3 | c.1711G>C (p.Val571Leu) c.1654G>C (p.Val552Leu) c.1627G>C (p.Val543Leu) c.1069G>C (p.Val357Leu) c.979G>C (p.Val327Leu) | |
4 | g.72313711C>T | CA357430770 | ADAMTS3 | c.1711G>A (p.Val571Ile) c.1654G>A (p.Val552Ile) c.1627G>A (p.Val543Ile) c.1069G>A (p.Val357Ile) c.979G>A (p.Val327Ile) | |
4 | g.72313712A>C | CA439879108 | ADAMTS3 | c.1710T>G (p.Gly570=) c.1653T>G (p.Gly551=) c.1626T>G (p.Gly542=) c.1068T>G (p.Gly356=) c.978T>G (p.Gly326=) | |
4 | g.72313712A>G | CA439879110 | ADAMTS3 | c.1710T>C (p.Gly570=) c.1653T>C (p.Gly551=) c.1626T>C (p.Gly542=) c.1068T>C (p.Gly356=) c.978T>C (p.Gly326=) | |
4 | g.72313712A>T | CA439879109 | ADAMTS3 | c.1710T>A (p.Gly570=) c.1653T>A (p.Gly551=) c.1626T>A (p.Gly542=) c.1068T>A (p.Gly356=) c.978T>A (p.Gly326=) | |
4 | g.72313713C>A | CA357430771 | ADAMTS3 | c.1709G>T (p.Gly570Val) c.1652G>T (p.Gly551Val) c.1625G>T (p.Gly542Val) c.1067G>T (p.Gly356Val) c.977G>T (p.Gly326Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.72313713C= | CA1467599848 | ADAMTS3 | c.1709G= (p.Gly570=) c.1652G= (p.Gly551=) c.1625G= (p.Gly542=) c.1067G= (p.Gly356=) c.977G= (p.Gly326=) | |
4 | g.72313713C>G | CA357430772 | ADAMTS3 | c.1709G>C (p.Gly570Ala) c.1652G>C (p.Gly551Ala) c.1625G>C (p.Gly542Ala) c.1067G>C (p.Gly356Ala) c.977G>C (p.Gly326Ala) | |
4 | g.72313713C>T | CA357430773 | ADAMTS3 | c.1709G>A (p.Gly570Asp) c.1652G>A (p.Gly551Asp) c.1625G>A (p.Gly542Asp) c.1067G>A (p.Gly356Asp) c.977G>A (p.Gly326Asp) | dbSNP |
4 | g.72313714C>A | CA357430776 | ADAMTS3 | c.1708G>T (p.Gly570Cys) c.1651G>T (p.Gly551Cys) c.1624G>T (p.Gly542Cys) c.1066G>T (p.Gly356Cys) c.976G>T (p.Gly326Cys) | |
4 | g.72313714C>G | CA357430775 | ADAMTS3 | c.1708G>C (p.Gly570Arg) c.1651G>C (p.Gly551Arg) c.1624G>C (p.Gly542Arg) c.1066G>C (p.Gly356Arg) c.976G>C (p.Gly326Arg) | |
4 | g.72313714C>T | CA357430774 | ADAMTS3 | c.1708G>A (p.Gly570Ser) c.1651G>A (p.Gly551Ser) c.1624G>A (p.Gly542Ser) c.1066G>A (p.Gly356Ser) c.976G>A (p.Gly326Ser) | |
4 | g.72313715A>C | CA439879111 | ADAMTS3 | c.1707T>G (p.Thr569=) c.1650T>G (p.Thr550=) c.1623T>G (p.Thr541=) c.1065T>G (p.Thr355=) c.975T>G (p.Thr325=) | gnomAD v4 |
4 | g.72313715A>G | CA439879112 | ADAMTS3 | c.1707T>C (p.Thr569=) c.1650T>C (p.Thr550=) c.1623T>C (p.Thr541=) c.1065T>C (p.Thr355=) c.975T>C (p.Thr325=) | gnomAD v4 |
4 | g.72313715A>T | CA439879113 | ADAMTS3 | c.1707T>A (p.Thr569=) c.1650T>A (p.Thr550=) c.1623T>A (p.Thr541=) c.1065T>A (p.Thr355=) c.975T>A (p.Thr325=) | gnomAD v4 |
4 | g.72313716G>A | CA2956875 | ADAMTS3 | c.1706C>T (p.Thr569Ile) c.1649C>T (p.Thr550Ile) c.1622C>T (p.Thr541Ile) c.1064C>T (p.Thr355Ile) c.974C>T (p.Thr325Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313716G>C | CA357430777 | ADAMTS3 | c.1706C>G (p.Thr569Ser) c.1649C>G (p.Thr550Ser) c.1622C>G (p.Thr541Ser) c.1064C>G (p.Thr355Ser) c.974C>G (p.Thr325Ser) | |
4 | g.72313716G= | CA1467599852 | ADAMTS3 | c.1706C= (p.Thr569=) c.1649C= (p.Thr550=) c.1622C= (p.Thr541=) c.1064C= (p.Thr355=) c.974C= (p.Thr325=) | |
4 | g.72313716G>T | CA357430778 | ADAMTS3 | c.1706C>A (p.Thr569Asn) c.1649C>A (p.Thr550Asn) c.1622C>A (p.Thr541Asn) c.1064C>A (p.Thr355Asn) c.974C>A (p.Thr325Asn) | |
4 | g.72313717T>A | CA357430779 | ADAMTS3 | c.1705A>T (p.Thr569Ser) c.1648A>T (p.Thr550Ser) c.1621A>T (p.Thr541Ser) c.1063A>T (p.Thr355Ser) c.973A>T (p.Thr325Ser) | |
4 | g.72313717T>C | CA357430780 | ADAMTS3 | c.1705A>G (p.Thr569Ala) c.1648A>G (p.Thr550Ala) c.1621A>G (p.Thr541Ala) c.1063A>G (p.Thr355Ala) c.973A>G (p.Thr325Ala) | |
4 | g.72313717T>G | CA357430781 | ADAMTS3 | c.1705A>C (p.Thr569Pro) c.1648A>C (p.Thr550Pro) c.1621A>C (p.Thr541Pro) c.1063A>C (p.Thr355Pro) c.973A>C (p.Thr325Pro) | |
4 | g.72313718T>A | CA439879114 | ADAMTS3 | c.1704A>T (p.Gly568=) c.1647A>T (p.Gly549=) c.1620A>T (p.Gly540=) c.1062A>T (p.Gly354=) c.972A>T (p.Gly324=) | |
4 | g.72313718T>C | CA439879115 | ADAMTS3 | c.1704A>G (p.Gly568=) c.1647A>G (p.Gly549=) c.1620A>G (p.Gly540=) c.1062A>G (p.Gly354=) c.972A>G (p.Gly324=) | |
4 | g.72313718T>G | CA439879116 | ADAMTS3 | c.1704A>C (p.Gly568=) c.1647A>C (p.Gly549=) c.1620A>C (p.Gly540=) c.1062A>C (p.Gly354=) c.972A>C (p.Gly324=) | |
4 | g.72313719C>A | CA357430782 | ADAMTS3 | c.1703G>T (p.Gly568Val) c.1646G>T (p.Gly549Val) c.1619G>T (p.Gly540Val) c.1061G>T (p.Gly354Val) c.971G>T (p.Gly324Val) | gnomAD v4 |
4 | g.72313719C>G | CA357430783 | ADAMTS3 | c.1703G>C (p.Gly568Ala) c.1646G>C (p.Gly549Ala) c.1619G>C (p.Gly540Ala) c.1061G>C (p.Gly354Ala) c.971G>C (p.Gly324Ala) | |
4 | g.72313719C>T | CA357430784 | ADAMTS3 | c.1703G>A (p.Gly568Glu) c.1646G>A (p.Gly549Glu) c.1619G>A (p.Gly540Glu) c.1061G>A (p.Gly354Glu) c.971G>A (p.Gly324Glu) | |
4 | g.72313720C>A | CA357430785 | ADAMTS3 | c.1702G>T (p.Gly568Ter) c.1645G>T (p.Gly549Ter) c.1618G>T (p.Gly540Ter) c.1060G>T (p.Gly354Ter) c.970G>T (p.Gly324Ter) | |
4 | g.72313720C>G | CA357430786 | ADAMTS3 | c.1702G>C (p.Gly568Arg) c.1645G>C (p.Gly549Arg) c.1618G>C (p.Gly540Arg) c.1060G>C (p.Gly354Arg) c.970G>C (p.Gly324Arg) | |
4 | g.72313720C>T | CA357430787 | ADAMTS3 | c.1702G>A (p.Gly568Arg) c.1645G>A (p.Gly549Arg) c.1618G>A (p.Gly540Arg) c.1060G>A (p.Gly354Arg) c.970G>A (p.Gly324Arg) | |
4 | g.72313721A>C | CA357430789 | ADAMTS3 | c.1701T>G (p.Cys567Trp) c.1644T>G (p.Cys548Trp) c.1617T>G (p.Cys539Trp) c.1059T>G (p.Cys353Trp) c.969T>G (p.Cys323Trp) | gnomAD v4 |
4 | g.72313721A>G | CA439879117 | ADAMTS3 | c.1701T>C (p.Cys567=) c.1644T>C (p.Cys548=) c.1617T>C (p.Cys539=) c.1059T>C (p.Cys353=) c.969T>C (p.Cys323=) | dbSNP |
4 | g.72313721A>T | CA357430788 | ADAMTS3 | c.1701T>A (p.Cys567Ter) c.1644T>A (p.Cys548Ter) c.1617T>A (p.Cys539Ter) c.1059T>A (p.Cys353Ter) c.969T>A (p.Cys323Ter) | |
4 | g.72313722C>A | CA357430790 | ADAMTS3 | c.1700G>T (p.Cys567Phe) c.1643G>T (p.Cys548Phe) c.1616G>T (p.Cys539Phe) c.1058G>T (p.Cys353Phe) c.968G>T (p.Cys323Phe) | gnomAD v4 |
4 | g.72313722C= | CA1467599856 | ADAMTS3 | c.1700G= (p.Cys567=) c.1643G= (p.Cys548=) c.1616G= (p.Cys539=) c.1058G= (p.Cys353=) c.968G= (p.Cys323=) | |
4 | g.72313722C>G | CA357430791 | ADAMTS3 | c.1700G>C (p.Cys567Ser) c.1643G>C (p.Cys548Ser) c.1616G>C (p.Cys539Ser) c.1058G>C (p.Cys353Ser) c.968G>C (p.Cys323Ser) | |
4 | g.72313722C>T | CA2956876 | ADAMTS3 | c.1700G>A (p.Cys567Tyr) c.1643G>A (p.Cys548Tyr) c.1616G>A (p.Cys539Tyr) c.1058G>A (p.Cys353Tyr) c.968G>A (p.Cys323Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.72313723A= | CA1467599858 | ADAMTS3 | c.1699T= (p.Cys567=) c.1642T= (p.Cys548=) c.1615T= (p.Cys539=) c.1057T= (p.Cys353=) c.967T= (p.Cys323=) | |
4 | g.72313723A>C | CA357430792 | ADAMTS3 | c.1699T>G (p.Cys567Gly) c.1642T>G (p.Cys548Gly) c.1615T>G (p.Cys539Gly) c.1057T>G (p.Cys353Gly) c.967T>G (p.Cys323Gly) | |
4 | g.72313723A>G | CA2956877 | ADAMTS3 | c.1699T>C (p.Cys567Arg) c.1642T>C (p.Cys548Arg) c.1615T>C (p.Cys539Arg) c.1057T>C (p.Cys353Arg) c.967T>C (p.Cys323Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313723A>T | CA357430793 | ADAMTS3 | c.1699T>A (p.Cys567Ser) c.1642T>A (p.Cys548Ser) c.1615T>A (p.Cys539Ser) c.1057T>A (p.Cys353Ser) c.967T>A (p.Cys323Ser) | |
4 | g.72313724T>A | CA439879118 | ADAMTS3 | c.1698A>T (p.Thr566=) c.1641A>T (p.Thr547=) c.1614A>T (p.Thr538=) c.1056A>T (p.Thr352=) c.966A>T (p.Thr322=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313724T>C | CA439879119 | ADAMTS3 | c.1698A>G (p.Thr566=) c.1641A>G (p.Thr547=) c.1614A>G (p.Thr538=) c.1056A>G (p.Thr352=) c.966A>G (p.Thr322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313724T>G | CA439879120 | ADAMTS3 | c.1698A>C (p.Thr566=) c.1641A>C (p.Thr547=) c.1614A>C (p.Thr538=) c.1056A>C (p.Thr352=) c.966A>C (p.Thr322=) | |
4 | g.72313724T= | CA1467599864 | ADAMTS3 | c.1698A= (p.Thr566=) c.1641A= (p.Thr547=) c.1614A= (p.Thr538=) c.1056A= (p.Thr352=) c.966A= (p.Thr322=) | |
4 | g.72313725G>A | CA2956878 | ADAMTS3 | c.1697C>T (p.Thr566Ile) c.1640C>T (p.Thr547Ile) c.1613C>T (p.Thr538Ile) c.1055C>T (p.Thr352Ile) c.965C>T (p.Thr322Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313725G>C | CA357430794 | ADAMTS3 | c.1697C>G (p.Thr566Arg) c.1640C>G (p.Thr547Arg) c.1613C>G (p.Thr538Arg) c.1055C>G (p.Thr352Arg) c.965C>G (p.Thr322Arg) | |
4 | g.72313725G= | CA1467599870 | ADAMTS3 | c.1697C= (p.Thr566=) c.1640C= (p.Thr547=) c.1613C= (p.Thr538=) c.1055C= (p.Thr352=) c.965C= (p.Thr322=) | |
4 | g.72313725G>T | CA357430795 | ADAMTS3 | c.1697C>A (p.Thr566Lys) c.1640C>A (p.Thr547Lys) c.1613C>A (p.Thr538Lys) c.1055C>A (p.Thr352Lys) c.965C>A (p.Thr322Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.72313726T>A | CA357430796 | ADAMTS3 | c.1696A>T (p.Thr566Ser) c.1639A>T (p.Thr547Ser) c.1612A>T (p.Thr538Ser) c.1054A>T (p.Thr352Ser) c.964A>T (p.Thr322Ser) | |
4 | g.72313726T>C | CA357430797 | ADAMTS3 | c.1696A>G (p.Thr566Ala) c.1639A>G (p.Thr547Ala) c.1612A>G (p.Thr538Ala) c.1054A>G (p.Thr352Ala) c.964A>G (p.Thr322Ala) | COSMIC |
4 | g.72313726T>G | CA357430798 | ADAMTS3 | c.1696A>C (p.Thr566Pro) c.1639A>C (p.Thr547Pro) c.1612A>C (p.Thr538Pro) c.1054A>C (p.Thr352Pro) c.964A>C (p.Thr322Pro) | |
4 | g.72313727C>A | CA439879121 | ADAMTS3 | c.1695G>T (p.Arg565=) c.1638G>T (p.Arg546=) c.1611G>T (p.Arg537=) c.1053G>T (p.Arg351=) c.963G>T (p.Arg321=) | |
4 | g.72313727C>G | CA439879122 | ADAMTS3 | c.1695G>C (p.Arg565=) c.1638G>C (p.Arg546=) c.1611G>C (p.Arg537=) c.1053G>C (p.Arg351=) c.963G>C (p.Arg321=) | |
4 | g.72313727C>T | CA439879123 | ADAMTS3 | c.1695G>A (p.Arg565=) c.1638G>A (p.Arg546=) c.1611G>A (p.Arg537=) c.1053G>A (p.Arg351=) c.963G>A (p.Arg321=) | |
4 | g.72313728C>A | CA357430800 | ADAMTS3 | c.1694G>T (p.Arg565Leu) c.1637G>T (p.Arg546Leu) c.1610G>T (p.Arg537Leu) c.1052G>T (p.Arg351Leu) c.962G>T (p.Arg321Leu) | |
4 | g.72313728C= | CA1467599874 | ADAMTS3 | c.1694G= (p.Arg565=) c.1637G= (p.Arg546=) c.1610G= (p.Arg537=) c.1052G= (p.Arg351=) c.962G= (p.Arg321=) | |
4 | g.72313728C>G | CA357430799 | ADAMTS3 | c.1694G>C (p.Arg565Pro) c.1637G>C (p.Arg546Pro) c.1610G>C (p.Arg537Pro) c.1052G>C (p.Arg351Pro) c.962G>C (p.Arg321Pro) | |
4 | g.72313728C>T | CA2956879 | ADAMTS3 | c.1694G>A (p.Arg565Gln) c.1637G>A (p.Arg546Gln) c.1610G>A (p.Arg537Gln) c.1052G>A (p.Arg351Gln) c.962G>A (p.Arg321Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313729G>A | CA2956880 | ADAMTS3 | c.1693C>T (p.Arg565Trp) c.1636C>T (p.Arg546Trp) c.1609C>T (p.Arg537Trp) c.1051C>T (p.Arg351Trp) c.961C>T (p.Arg321Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313729G>C | CA357430801 | ADAMTS3 | c.1693C>G (p.Arg565Gly) c.1636C>G (p.Arg546Gly) c.1609C>G (p.Arg537Gly) c.1051C>G (p.Arg351Gly) c.961C>G (p.Arg321Gly) | gnomAD v4 |
4 | g.72313729G= | CA1467599880 | ADAMTS3 | c.1693C= (p.Arg565=) c.1636C= (p.Arg546=) c.1609C= (p.Arg537=) c.1051C= (p.Arg351=) c.961C= (p.Arg321=) | |
4 | g.72313729G>T | CA439879124 | ADAMTS3 | c.1693C>A (p.Arg565=) c.1636C>A (p.Arg546=) c.1609C>A (p.Arg537=) c.1051C>A (p.Arg351=) c.961C>A (p.Arg321=) | |
4 | g.72313730A>C | CA439879125 | ADAMTS3 | c.1692T>G (p.Ser564=) c.1635T>G (p.Ser545=) c.1608T>G (p.Ser536=) c.1050T>G (p.Ser350=) c.960T>G (p.Ser320=) | |
4 | g.72313730A>G | CA439879126 | ADAMTS3 | c.1692T>C (p.Ser564=) c.1635T>C (p.Ser545=) c.1608T>C (p.Ser536=) c.1050T>C (p.Ser350=) c.960T>C (p.Ser320=) | |
4 | g.72313730A>T | CA439879127 | ADAMTS3 | c.1692T>A (p.Ser564=) c.1635T>A (p.Ser545=) c.1608T>A (p.Ser536=) c.1050T>A (p.Ser350=) c.960T>A (p.Ser320=) | |
4 | g.72313731G>A | CA357430802 | ADAMTS3 | c.1691C>T (p.Ser564Phe) c.1634C>T (p.Ser545Phe) c.1607C>T (p.Ser536Phe) c.1049C>T (p.Ser350Phe) c.959C>T (p.Ser320Phe) | |
4 | g.72313731G>C | CA357430803 | ADAMTS3 | c.1691C>G (p.Ser564Cys) c.1634C>G (p.Ser545Cys) c.1607C>G (p.Ser536Cys) c.1049C>G (p.Ser350Cys) c.959C>G (p.Ser320Cys) | |
4 | g.72313731G>T | CA357430804 | ADAMTS3 | c.1691C>A (p.Ser564Tyr) c.1634C>A (p.Ser545Tyr) c.1607C>A (p.Ser536Tyr) c.1049C>A (p.Ser350Tyr) c.959C>A (p.Ser320Tyr) | COSMIC |
4 | g.72313732A>C | CA357430805 | ADAMTS3 | c.1690T>G (p.Ser564Ala) c.1633T>G (p.Ser545Ala) c.1606T>G (p.Ser536Ala) c.1048T>G (p.Ser350Ala) c.958T>G (p.Ser320Ala) | |
4 | g.72313732A>G | CA357430806 | ADAMTS3 | c.1690T>C (p.Ser564Pro) c.1633T>C (p.Ser545Pro) c.1606T>C (p.Ser536Pro) c.1048T>C (p.Ser350Pro) c.958T>C (p.Ser320Pro) | |
4 | g.72313732A>T | CA357430807 | ADAMTS3 | c.1690T>A (p.Ser564Thr) c.1633T>A (p.Ser545Thr) c.1606T>A (p.Ser536Thr) c.1048T>A (p.Ser350Thr) c.958T>A (p.Ser320Thr) | |
4 | g.72313733A>C | CA357430808 | ADAMTS3 | c.1689T>G (p.Cys563Trp) c.1632T>G (p.Cys544Trp) c.1605T>G (p.Cys535Trp) c.1047T>G (p.Cys349Trp) c.957T>G (p.Cys319Trp) | |
4 | g.72313733A>G | CA439879128 | ADAMTS3 | c.1689T>C (p.Cys563=) c.1632T>C (p.Cys544=) c.1605T>C (p.Cys535=) c.1047T>C (p.Cys349=) c.957T>C (p.Cys319=) | |
4 | g.72313733A>T | CA357430809 | ADAMTS3 | c.1689T>A (p.Cys563Ter) c.1632T>A (p.Cys544Ter) c.1605T>A (p.Cys535Ter) c.1047T>A (p.Cys349Ter) c.957T>A (p.Cys319Ter) | |
4 | g.72313734C>A | CA357430810 | ADAMTS3 | c.1688G>T (p.Cys563Phe) c.1631G>T (p.Cys544Phe) c.1604G>T (p.Cys535Phe) c.1046G>T (p.Cys349Phe) c.956G>T (p.Cys319Phe) | |
4 | g.72313734C>G | CA357430811 | ADAMTS3 | c.1688G>C (p.Cys563Ser) c.1631G>C (p.Cys544Ser) c.1604G>C (p.Cys535Ser) c.1046G>C (p.Cys349Ser) c.956G>C (p.Cys319Ser) | COSMIC |
4 | g.72313734C>T | CA357430812 | ADAMTS3 | c.1688G>A (p.Cys563Tyr) c.1631G>A (p.Cys544Tyr) c.1604G>A (p.Cys535Tyr) c.1046G>A (p.Cys349Tyr) c.956G>A (p.Cys319Tyr) | gnomAD v4 |
4 | g.72313735A>C | CA357430815 | ADAMTS3 | c.1687T>G (p.Cys563Gly) c.1630T>G (p.Cys544Gly) c.1603T>G (p.Cys535Gly) c.1045T>G (p.Cys349Gly) c.955T>G (p.Cys319Gly) | |
4 | g.72313735A>G | CA357430814 | ADAMTS3 | c.1687T>C (p.Cys563Arg) c.1630T>C (p.Cys544Arg) c.1603T>C (p.Cys535Arg) c.1045T>C (p.Cys349Arg) c.955T>C (p.Cys319Arg) | |
4 | g.72313735A>T | CA357430813 | ADAMTS3 | c.1687T>A (p.Cys563Ser) c.1630T>A (p.Cys544Ser) c.1603T>A (p.Cys535Ser) c.1045T>A (p.Cys349Ser) c.955T>A (p.Cys319Ser) | |
4 | g.72313736G>A | CA439879132 | ADAMTS3 | c.1686C>T (p.Ser562=) c.1629C>T (p.Ser543=) c.1602C>T (p.Ser534=) c.1044C>T (p.Ser348=) c.954C>T (p.Ser318=) | gnomAD v4 |
4 | g.72313736G>C | CA439879131 | ADAMTS3 | c.1686C>G (p.Ser562=) c.1629C>G (p.Ser543=) c.1602C>G (p.Ser534=) c.1044C>G (p.Ser348=) c.954C>G (p.Ser318=) | |
4 | g.72313736G>T | CA439879130 | ADAMTS3 | c.1686C>A (p.Ser562=) c.1629C>A (p.Ser543=) c.1602C>A (p.Ser534=) c.1044C>A (p.Ser348=) c.954C>A (p.Ser318=) | |
4 | g.72313737G>A | CA357430816 | ADAMTS3 | c.1685C>T (p.Ser562Phe) c.1628C>T (p.Ser543Phe) c.1601C>T (p.Ser534Phe) c.1043C>T (p.Ser348Phe) c.953C>T (p.Ser318Phe) | gnomAD v4 |
4 | g.72313737G>C | CA357430817 | ADAMTS3 | c.1685C>G (p.Ser562Cys) c.1628C>G (p.Ser543Cys) c.1601C>G (p.Ser534Cys) c.1043C>G (p.Ser348Cys) c.953C>G (p.Ser318Cys) | |
4 | g.72313737G>T | CA357430818 | ADAMTS3 | c.1685C>A (p.Ser562Tyr) c.1628C>A (p.Ser543Tyr) c.1601C>A (p.Ser534Tyr) c.1043C>A (p.Ser348Tyr) c.953C>A (p.Ser318Tyr) | |
4 | g.72313738A>C | CA357430819 | ADAMTS3 | c.1684T>G (p.Ser562Ala) c.1627T>G (p.Ser543Ala) c.1600T>G (p.Ser534Ala) c.1042T>G (p.Ser348Ala) c.952T>G (p.Ser318Ala) | |
4 | g.72313738A>G | CA357430820 | ADAMTS3 | c.1684T>C (p.Ser562Pro) c.1627T>C (p.Ser543Pro) c.1600T>C (p.Ser534Pro) c.1042T>C (p.Ser348Pro) c.952T>C (p.Ser318Pro) | |
4 | g.72313738A>T | CA357430821 | ADAMTS3 | c.1684T>A (p.Ser562Thr) c.1627T>A (p.Ser543Thr) c.1600T>A (p.Ser534Thr) c.1042T>A (p.Ser348Thr) c.952T>A (p.Ser318Thr) | |
4 | g.72313739G>A | CA439879133 | ADAMTS3 | c.1683C>T (p.Gly561=) c.1626C>T (p.Gly542=) c.1599C>T (p.Gly533=) c.1041C>T (p.Gly347=) c.951C>T (p.Gly317=) | |
4 | g.72313739G>C | CA439879135 | ADAMTS3 | c.1683C>G (p.Gly561=) c.1626C>G (p.Gly542=) c.1599C>G (p.Gly533=) c.1041C>G (p.Gly347=) c.951C>G (p.Gly317=) | |
4 | g.72313739G>T | CA439879134 | ADAMTS3 | c.1683C>A (p.Gly561=) c.1626C>A (p.Gly542=) c.1599C>A (p.Gly533=) c.1041C>A (p.Gly347=) c.951C>A (p.Gly317=) | |
4 | g.72313740C>A | CA357430822 | ADAMTS3 | c.1682G>T (p.Gly561Val) c.1625G>T (p.Gly542Val) c.1598G>T (p.Gly533Val) c.1040G>T (p.Gly347Val) c.950G>T (p.Gly317Val) | |
4 | g.72313740C= | CA1467599882 | ADAMTS3 | c.1682G= (p.Gly561=) c.1625G= (p.Gly542=) c.1598G= (p.Gly533=) c.1040G= (p.Gly347=) c.950G= (p.Gly317=) | |
4 | g.72313740C>G | CA357430823 | ADAMTS3 | c.1682G>C (p.Gly561Ala) c.1625G>C (p.Gly542Ala) c.1598G>C (p.Gly533Ala) c.1040G>C (p.Gly347Ala) c.950G>C (p.Gly317Ala) | dbSNP |
4 | g.72313740C>T | CA357430824 | ADAMTS3 | c.1682G>A (p.Gly561Asp) c.1625G>A (p.Gly542Asp) c.1598G>A (p.Gly533Asp) c.1040G>A (p.Gly347Asp) c.950G>A (p.Gly317Asp) | |
4 | g.72313741C>A | CA357430825 | ADAMTS3 | c.1681G>T (p.Gly561Cys) c.1624G>T (p.Gly542Cys) c.1597G>T (p.Gly533Cys) c.1039G>T (p.Gly347Cys) c.949G>T (p.Gly317Cys) | |
4 | g.72313741C>G | CA357430826 | ADAMTS3 | c.1681G>C (p.Gly561Arg) c.1624G>C (p.Gly542Arg) c.1597G>C (p.Gly533Arg) c.1039G>C (p.Gly347Arg) c.949G>C (p.Gly317Arg) | |
4 | g.72313741C>T | CA357430827 | ADAMTS3 | c.1681G>A (p.Gly561Ser) c.1624G>A (p.Gly542Ser) c.1597G>A (p.Gly533Ser) c.1039G>A (p.Gly347Ser) c.949G>A (p.Gly317Ser) | |
4 | g.72313742A>C | CA357430828 | ADAMTS3 | c.1680T>G (p.Phe560Leu) c.1623T>G (p.Phe541Leu) c.1596T>G (p.Phe532Leu) c.1038T>G (p.Phe346Leu) c.948T>G (p.Phe316Leu) | |
4 | g.72313742A>G | CA439879136 | ADAMTS3 | c.1680T>C (p.Phe560=) c.1623T>C (p.Phe541=) c.1596T>C (p.Phe532=) c.1038T>C (p.Phe346=) c.948T>C (p.Phe316=) | dbSNP |
4 | g.72313742A>T | CA357430829 | ADAMTS3 | c.1680T>A (p.Phe560Leu) c.1623T>A (p.Phe541Leu) c.1596T>A (p.Phe532Leu) c.1038T>A (p.Phe346Leu) c.948T>A (p.Phe316Leu) | |
4 | g.72313743A= | CA1467599886 | ADAMTS3 | c.1679T= (p.Phe560=) c.1622T= (p.Phe541=) c.1595T= (p.Phe532=) c.1037T= (p.Phe346=) c.947T= (p.Phe316=) | |
4 | g.72313743A>C | CA357430831 | ADAMTS3 | c.1679T>G (p.Phe560Cys) c.1622T>G (p.Phe541Cys) c.1595T>G (p.Phe532Cys) c.1037T>G (p.Phe346Cys) c.947T>G (p.Phe316Cys) | |
4 | g.72313743A>G | CA357430832 | ADAMTS3 | c.1679T>C (p.Phe560Ser) c.1622T>C (p.Phe541Ser) c.1595T>C (p.Phe532Ser) c.1037T>C (p.Phe346Ser) c.947T>C (p.Phe316Ser) | dbSNP |
4 | g.72313743A>T | CA357430830 | ADAMTS3 | c.1679T>A (p.Phe560Tyr) c.1622T>A (p.Phe541Tyr) c.1595T>A (p.Phe532Tyr) c.1037T>A (p.Phe346Tyr) c.947T>A (p.Phe316Tyr) | |
4 | g.72313744A>C | CA357430833 | ADAMTS3 | c.1678T>G (p.Phe560Val) c.1621T>G (p.Phe541Val) c.1594T>G (p.Phe532Val) c.1036T>G (p.Phe346Val) c.946T>G (p.Phe316Val) | |
4 | g.72313744A>G | CA357430834 | ADAMTS3 | c.1678T>C (p.Phe560Leu) c.1621T>C (p.Phe541Leu) c.1594T>C (p.Phe532Leu) c.1036T>C (p.Phe346Leu) c.946T>C (p.Phe316Leu) | |
4 | g.72313744A>T | CA357430835 | ADAMTS3 | c.1678T>A (p.Phe560Ile) c.1621T>A (p.Phe541Ile) c.1594T>A (p.Phe532Ile) c.1036T>A (p.Phe346Ile) c.946T>A (p.Phe316Ile) | |
4 | g.72313745T>A | CA357430836 | ADAMTS3 | c.1677A>T (p.Lys559Asn) c.1620A>T (p.Lys540Asn) c.1593A>T (p.Lys531Asn) c.1035A>T (p.Lys345Asn) c.945A>T (p.Lys315Asn) | |
4 | g.72313745T>C | CA2956881 | ADAMTS3 | c.1677A>G (p.Lys559=) c.1620A>G (p.Lys540=) c.1593A>G (p.Lys531=) c.1035A>G (p.Lys345=) c.945A>G (p.Lys315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313745T>G | CA357430837 | ADAMTS3 | c.1677A>C (p.Lys559Asn) c.1620A>C (p.Lys540Asn) c.1593A>C (p.Lys531Asn) c.1035A>C (p.Lys345Asn) c.945A>C (p.Lys315Asn) | gnomAD v4 |
4 | g.72313745T= | CA1467599889 | ADAMTS3 | c.1677A= (p.Lys559=) c.1620A= (p.Lys540=) c.1593A= (p.Lys531=) c.1035A= (p.Lys345=) c.945A= (p.Lys315=) | |
4 | g.72313746T>A | CA357430838 | ADAMTS3 | c.1676A>T (p.Lys559Ile) c.1619A>T (p.Lys540Ile) c.1592A>T (p.Lys531Ile) c.1034A>T (p.Lys345Ile) c.944A>T (p.Lys315Ile) | |
4 | g.72313746T>C | CA357430839 | ADAMTS3 | c.1676A>G (p.Lys559Arg) c.1619A>G (p.Lys540Arg) c.1592A>G (p.Lys531Arg) c.1034A>G (p.Lys345Arg) c.944A>G (p.Lys315Arg) | |
4 | g.72313746T>G | CA357430840 | ADAMTS3 | c.1676A>C (p.Lys559Thr) c.1619A>C (p.Lys540Thr) c.1592A>C (p.Lys531Thr) c.1034A>C (p.Lys345Thr) c.944A>C (p.Lys315Thr) | |
4 | g.72313747T>A | CA357430841 | ADAMTS3 | c.1675A>T (p.Lys559Ter) c.1618A>T (p.Lys540Ter) c.1591A>T (p.Lys531Ter) c.1033A>T (p.Lys345Ter) c.943A>T (p.Lys315Ter) | |
4 | g.72313747T>C | CA357430842 | ADAMTS3 | c.1675A>G (p.Lys559Glu) c.1618A>G (p.Lys540Glu) c.1591A>G (p.Lys531Glu) c.1033A>G (p.Lys345Glu) c.943A>G (p.Lys315Glu) | |
4 | g.72313747T>G | CA357430843 | ADAMTS3 | c.1675A>C (p.Lys559Gln) c.1618A>C (p.Lys540Gln) c.1591A>C (p.Lys531Gln) c.1033A>C (p.Lys345Gln) c.943A>C (p.Lys315Gln) | |
4 | g.72313748A>C | CA439879137 | ADAMTS3 | c.1674T>G (p.Thr558=) c.1617T>G (p.Thr539=) c.1590T>G (p.Thr530=) c.1032T>G (p.Thr344=) c.942T>G (p.Thr314=) | |
4 | g.72313748A>G | CA439879138 | ADAMTS3 | c.1674T>C (p.Thr558=) c.1617T>C (p.Thr539=) c.1590T>C (p.Thr530=) c.1032T>C (p.Thr344=) c.942T>C (p.Thr314=) | |
4 | g.72313748A>T | CA439879139 | ADAMTS3 | c.1674T>A (p.Thr558=) c.1617T>A (p.Thr539=) c.1590T>A (p.Thr530=) c.1032T>A (p.Thr344=) c.942T>A (p.Thr314=) | |
4 | g.72313749G>A | CA2956882 | ADAMTS3 | c.1673C>T (p.Thr558Ile) c.1616C>T (p.Thr539Ile) c.1589C>T (p.Thr530Ile) c.1031C>T (p.Thr344Ile) c.941C>T (p.Thr314Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.72313749G>C | CA357430844 | ADAMTS3 | c.1673C>G (p.Thr558Ser) c.1616C>G (p.Thr539Ser) c.1589C>G (p.Thr530Ser) c.1031C>G (p.Thr344Ser) c.941C>G (p.Thr314Ser) | |
4 | g.72313749G= | CA1467599895 | ADAMTS3 | c.1673C= (p.Thr558=) c.1616C= (p.Thr539=) c.1589C= (p.Thr530=) c.1031C= (p.Thr344=) c.941C= (p.Thr314=) | |
4 | g.72313749G>T | CA357430845 | ADAMTS3 | c.1673C>A (p.Thr558Asn) c.1616C>A (p.Thr539Asn) c.1589C>A (p.Thr530Asn) c.1031C>A (p.Thr344Asn) c.941C>A (p.Thr314Asn) | |
4 | g.72313750T>A | CA357430846 | ADAMTS3 | c.1672A>T (p.Thr558Ser) c.1615A>T (p.Thr539Ser) c.1588A>T (p.Thr530Ser) c.1030A>T (p.Thr344Ser) c.940A>T (p.Thr314Ser) | |
4 | g.72313750T>C | CA357430847 | ADAMTS3 | c.1672A>G (p.Thr558Ala) c.1615A>G (p.Thr539Ala) c.1588A>G (p.Thr530Ala) c.1030A>G (p.Thr344Ala) c.940A>G (p.Thr314Ala) | gnomAD v4 |
4 | g.72313750T>G | CA357430848 | ADAMTS3 | c.1672A>C (p.Thr558Pro) c.1615A>C (p.Thr539Pro) c.1588A>C (p.Thr530Pro) c.1030A>C (p.Thr344Pro) c.940A>C (p.Thr314Pro) | |
4 | g.72313751C>A | CA357430849 | ADAMTS3 | c.1671G>T (p.Trp557Cys) c.1614G>T (p.Trp538Cys) c.1587G>T (p.Trp529Cys) c.1029G>T (p.Trp343Cys) c.939G>T (p.Trp313Cys) | |
4 | g.72313751C>G | CA357430850 | ADAMTS3 | c.1671G>C (p.Trp557Cys) c.1614G>C (p.Trp538Cys) c.1587G>C (p.Trp529Cys) c.1029G>C (p.Trp343Cys) c.939G>C (p.Trp313Cys) | |
4 | g.72313751C>T | CA357430851 | ADAMTS3 | c.1671G>A (p.Trp557Ter) c.1614G>A (p.Trp538Ter) c.1587G>A (p.Trp529Ter) c.1029G>A (p.Trp343Ter) c.939G>A (p.Trp313Ter) | |
4 | g.72313752C>A | CA357430852 | ADAMTS3 | c.1670G>T (p.Trp557Leu) c.1613G>T (p.Trp538Leu) c.1586G>T (p.Trp529Leu) c.1028G>T (p.Trp343Leu) c.938G>T (p.Trp313Leu) | |
4 | g.72313752C>G | CA357430853 | ADAMTS3 | c.1670G>C (p.Trp557Ser) c.1613G>C (p.Trp538Ser) c.1586G>C (p.Trp529Ser) c.1028G>C (p.Trp343Ser) c.938G>C (p.Trp313Ser) | gnomAD v4 |
4 | g.72313752C>T | CA357430854 | ADAMTS3 | c.1670G>A (p.Trp557Ter) c.1613G>A (p.Trp538Ter) c.1586G>A (p.Trp529Ter) c.1028G>A (p.Trp343Ter) c.938G>A (p.Trp313Ter) | |
4 | g.72313753A>C | CA357430855 | ADAMTS3 | c.1669T>G (p.Trp557Gly) c.1612T>G (p.Trp538Gly) c.1585T>G (p.Trp529Gly) c.1027T>G (p.Trp343Gly) c.937T>G (p.Trp313Gly) | |
4 | g.72313753A>G | CA357430856 | ADAMTS3 | c.1669T>C (p.Trp557Arg) c.1612T>C (p.Trp538Arg) c.1585T>C (p.Trp529Arg) c.1027T>C (p.Trp343Arg) c.937T>C (p.Trp313Arg) | |
4 | g.72313753A>T | CA357430857 | ADAMTS3 | c.1669T>A (p.Trp557Arg) c.1612T>A (p.Trp538Arg) c.1585T>A (p.Trp529Arg) c.1027T>A (p.Trp343Arg) c.937T>A (p.Trp313Arg) | |
4 | g.72313754T>A | CA439879141 | ADAMTS3 | c.1668A>T (p.Ser556=) c.1611A>T (p.Ser537=) c.1584A>T (p.Ser528=) c.1026A>T (p.Ser342=) c.936A>T (p.Ser312=) | |
4 | g.72313754T>C | CA439879142 | ADAMTS3 | c.1668A>G (p.Ser556=) c.1611A>G (p.Ser537=) c.1584A>G (p.Ser528=) c.1026A>G (p.Ser342=) c.936A>G (p.Ser312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313754T>G | CA2956883 | ADAMTS3 | c.1668A>C (p.Ser556=) c.1611A>C (p.Ser537=) c.1584A>C (p.Ser528=) c.1026A>C (p.Ser342=) c.936A>C (p.Ser312=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313754T= | CA1467599901 | ADAMTS3 | c.1668A= (p.Ser556=) c.1611A= (p.Ser537=) c.1584A= (p.Ser528=) c.1026A= (p.Ser342=) c.936A= (p.Ser312=) | |
4 | g.72313755G>A | CA357430859 | ADAMTS3 | c.1667C>T (p.Ser556Leu) c.1610C>T (p.Ser537Leu) c.1583C>T (p.Ser528Leu) c.1025C>T (p.Ser342Leu) c.935C>T (p.Ser312Leu) | |
4 | g.72313755G>C | CA357430858 | ADAMTS3 | c.1667C>G (p.Ser556Ter) c.1610C>G (p.Ser537Ter) c.1583C>G (p.Ser528Ter) c.1025C>G (p.Ser342Ter) c.935C>G (p.Ser312Ter) | |
4 | g.72313755G>T | CA357430860 | ADAMTS3 | c.1667C>A (p.Ser556Ter) c.1610C>A (p.Ser537Ter) c.1583C>A (p.Ser528Ter) c.1025C>A (p.Ser342Ter) c.935C>A (p.Ser312Ter) | |
4 | g.72313756A= | CA1467599905 | ADAMTS3 | c.1666T= (p.Ser556=) c.1609T= (p.Ser537=) c.1582T= (p.Ser528=) c.1024T= (p.Ser342=) c.934T= (p.Ser312=) | |
4 | g.72313756A>C | CA357430861 | ADAMTS3 | c.1666T>G (p.Ser556Ala) c.1609T>G (p.Ser537Ala) c.1582T>G (p.Ser528Ala) c.1024T>G (p.Ser342Ala) c.934T>G (p.Ser312Ala) | |
4 | g.72313756A>G | CA99549857 | ADAMTS3 | c.1666T>C (p.Ser556Pro) c.1609T>C (p.Ser537Pro) c.1582T>C (p.Ser528Pro) c.1024T>C (p.Ser342Pro) c.934T>C (p.Ser312Pro) | dbSNP |
4 | g.72313756A>T | CA357430862 | ADAMTS3 | c.1666T>A (p.Ser556Thr) c.1609T>A (p.Ser537Thr) c.1582T>A (p.Ser528Thr) c.1024T>A (p.Ser342Thr) c.934T>A (p.Ser312Thr) | gnomAD v4 |
4 | g.72313757C>A | CA2956884 | ADAMTS3 | c.1665G>T (p.Gly555=) c.1608G>T (p.Gly536=) c.1581G>T (p.Gly527=) c.1023G>T (p.Gly341=) c.933G>T (p.Gly311=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.72313757C= | CA1467599909 | ADAMTS3 | c.1665G= (p.Gly555=) c.1608G= (p.Gly536=) c.1581G= (p.Gly527=) c.1023G= (p.Gly341=) c.933G= (p.Gly311=) | |
4 | g.72313757C>G | CA439879143 | ADAMTS3 | c.1665G>C (p.Gly555=) c.1608G>C (p.Gly536=) c.1581G>C (p.Gly527=) c.1023G>C (p.Gly341=) c.933G>C (p.Gly311=) | gnomAD v4 |
4 | g.72313757C>T | CA99549858 | ADAMTS3 | c.1665G>A (p.Gly555=) c.1608G>A (p.Gly536=) c.1581G>A (p.Gly527=) c.1023G>A (p.Gly341=) c.933G>A (p.Gly311=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.72313758C>A | CA357430863 | ADAMTS3 | c.1664G>T (p.Gly555Val) c.1607G>T (p.Gly536Val) c.1580G>T (p.Gly527Val) c.1022G>T (p.Gly341Val) c.932G>T (p.Gly311Val) | gnomAD v4 |
4 | g.72313758C>G | CA357430864 | ADAMTS3 | c.1664G>C (p.Gly555Ala) c.1607G>C (p.Gly536Ala) c.1580G>C (p.Gly527Ala) c.1022G>C (p.Gly341Ala) c.932G>C (p.Gly311Ala) | |
4 | g.72313758C>T | CA357430865 | ADAMTS3 | c.1664G>A (p.Gly555Glu) c.1607G>A (p.Gly536Glu) c.1580G>A (p.Gly527Glu) c.1022G>A (p.Gly341Glu) c.932G>A (p.Gly311Glu) | |
4 | g.72313759C>A | CA357430866 | ADAMTS3 | c.1663G>T (p.Gly555Trp) c.1606G>T (p.Gly536Trp) c.1579G>T (p.Gly527Trp) c.1021G>T (p.Gly341Trp) c.931G>T (p.Gly311Trp) | COSMIC |
4 | g.72313759C>G | CA357430867 | ADAMTS3 | c.1663G>C (p.Gly555Arg) c.1606G>C (p.Gly536Arg) c.1579G>C (p.Gly527Arg) c.1021G>C (p.Gly341Arg) c.931G>C (p.Gly311Arg) | |
4 | g.72313759C>T | CA357430868 | ADAMTS3 | c.1663G>A (p.Gly555Arg) c.1606G>A (p.Gly536Arg) c.1579G>A (p.Gly527Arg) c.1021G>A (p.Gly341Arg) c.931G>A (p.Gly311Arg) | |
4 | g.72313760C>A | CA357430869 | ADAMTS3 | c.1662G>T (p.Trp554Cys) c.1605G>T (p.Trp535Cys) c.1578G>T (p.Trp526Cys) c.1020G>T (p.Trp340Cys) c.930G>T (p.Trp310Cys) | |
4 | g.72313760C>G | CA357430870 | ADAMTS3 | c.1662G>C (p.Trp554Cys) c.1605G>C (p.Trp535Cys) c.1578G>C (p.Trp526Cys) c.1020G>C (p.Trp340Cys) c.930G>C (p.Trp310Cys) | |
4 | g.72313760C>T | CA357430871 | ADAMTS3 | c.1662G>A (p.Trp554Ter) c.1605G>A (p.Trp535Ter) c.1578G>A (p.Trp526Ter) c.1020G>A (p.Trp340Ter) c.930G>A (p.Trp310Ter) | gnomAD v4 |
4 | g.72313761C>A | CA357430874 | ADAMTS3 | c.1661G>T (p.Trp554Leu) c.1604G>T (p.Trp535Leu) c.1577G>T (p.Trp526Leu) c.1019G>T (p.Trp340Leu) c.929G>T (p.Trp310Leu) | |
4 | g.72313761C>G | CA357430873 | ADAMTS3 | c.1661G>C (p.Trp554Ser) c.1604G>C (p.Trp535Ser) c.1577G>C (p.Trp526Ser) c.1019G>C (p.Trp340Ser) c.929G>C (p.Trp310Ser) | |
4 | g.72313761C>T | CA357430872 | ADAMTS3 | c.1661G>A (p.Trp554Ter) c.1604G>A (p.Trp535Ter) c.1577G>A (p.Trp526Ter) c.1019G>A (p.Trp340Ter) c.929G>A (p.Trp310Ter) | |
4 | g.72313762A>C | CA357430875 | ADAMTS3 | c.1660T>G (p.Trp554Gly) c.1603T>G (p.Trp535Gly) c.1576T>G (p.Trp526Gly) c.1018T>G (p.Trp340Gly) c.928T>G (p.Trp310Gly) | |
4 | g.72313762A>G | CA357430876 | ADAMTS3 | c.1660T>C (p.Trp554Arg) c.1603T>C (p.Trp535Arg) c.1576T>C (p.Trp526Arg) c.1018T>C (p.Trp340Arg) c.928T>C (p.Trp310Arg) | gnomAD v4 |
4 | g.72313762A>T | CA357430877 | ADAMTS3 | c.1660T>A (p.Trp554Arg) c.1603T>A (p.Trp535Arg) c.1576T>A (p.Trp526Arg) c.1018T>A (p.Trp340Arg) c.928T>A (p.Trp310Arg) |