Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.72313648_72313666delinsAATAACAAGAGTTACAAGGCA1467599748ADAMTS3c.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)
4g.72313652_72313669delCA552478875ADAMTS3c.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
4g.72313653_72313655delCA2670948930ADAMTS3c.1745+24_1745+26del (n.1745+24_1745+26del)
c.1688+24_1688+26del (n.1688+24_1688+26del)
c.1661+24_1661+26del (n.1661+24_1661+26del)
c.1103+24_1103+26del (n.1103+24_1103+26del)
c.1013+24_1013+26del (n.1013+24_1013+26del)
 gnomAD v4
4g.72313654A=CA1467599754ADAMTS3c.1745+23T= (n.1745+23T=)
c.1688+23T= (n.1688+23T=)
c.1661+23T= (n.1661+23T=)
c.1103+23T= (n.1103+23T=)
c.1013+23T= (n.1013+23T=)
4g.72313654A>GCA1467599755ADAMTS3c.1745+23T>C (n.1745+23T>C)
c.1688+23T>C (n.1688+23T>C)
c.1661+23T>C (n.1661+23T>C)
c.1103+23T>C (n.1103+23T>C)
c.1013+23T>C (n.1013+23T>C)
 dbSNP
4g.72313654A>TCA2670948933ADAMTS3c.1745+23T>A (n.1745+23T>A)
c.1688+23T>A (n.1688+23T>A)
c.1661+23T>A (n.1661+23T>A)
c.1103+23T>A (n.1103+23T>A)
c.1013+23T>A (n.1013+23T>A)
 gnomAD v4
4g.72313655delCA2670948932ADAMTS3c.1745+23del (n.1745+23del)
c.1688+23del (n.1688+23del)
c.1661+23del (n.1661+23del)
c.1103+23del (n.1103+23del)
c.1013+23del (n.1013+23del)
 gnomAD v4
4g.72313655A=CA1467599758ADAMTS3c.1745+22T= (n.1745+22T=)
c.1688+22T= (n.1688+22T=)
c.1661+22T= (n.1661+22T=)
c.1103+22T= (n.1103+22T=)
c.1013+22T= (n.1013+22T=)
4g.72313655A>GCA552478878ADAMTS3c.1745+22T>C (n.1745+22T>C)
c.1688+22T>C (n.1688+22T>C)
c.1661+22T>C (n.1661+22T>C)
c.1103+22T>C (n.1103+22T>C)
c.1013+22T>C (n.1013+22T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.72313657_72313658delCA2670948934ADAMTS3c.1745+21_1745+22del (n.1745+21_1745+22del)
c.1688+21_1688+22del (n.1688+21_1688+22del)
c.1661+21_1661+22del (n.1661+21_1661+22del)
c.1103+21_1103+22del (n.1103+21_1103+22del)
c.1013+21_1013+22del (n.1013+21_1013+22del)
 gnomAD v4
4g.72313656G>CCA2578109974ADAMTS3c.1745+21C>G (n.1745+21C>G)
c.1688+21C>G (n.1688+21C>G)
c.1661+21C>G (n.1661+21C>G)
c.1103+21C>G (n.1103+21C>G)
c.1013+21C>G (n.1013+21C>G)
 gnomAD v4
4g.72313659T>CCA2956862ADAMTS3c.1745+18A>G (n.1745+18A>G)
c.1688+18A>G (n.1688+18A>G)
c.1661+18A>G (n.1661+18A>G)
c.1103+18A>G (n.1103+18A>G)
c.1013+18A>G (n.1013+18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.72313659T=CA1467599761ADAMTS3c.1745+18A= (n.1745+18A=)
c.1688+18A= (n.1688+18A=)
c.1661+18A= (n.1661+18A=)
c.1103+18A= (n.1103+18A=)
c.1013+18A= (n.1013+18A=)
4g.72313660T>ACA2956863ADAMTS3c.1745+17A>T (n.1745+17A>T)
c.1688+17A>T (n.1688+17A>T)
c.1661+17A>T (n.1661+17A>T)
c.1103+17A>T (n.1103+17A>T)
c.1013+17A>T (n.1013+17A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.72313660T=CA1467599762ADAMTS3c.1745+17A= (n.1745+17A=)
c.1688+17A= (n.1688+17A=)
c.1661+17A= (n.1661+17A=)
c.1103+17A= (n.1103+17A=)
c.1013+17A= (n.1013+17A=)
4g.72313661A=CA1467599764ADAMTS3c.1745+16T= (n.1745+16T=)
c.1688+16T= (n.1688+16T=)
c.1661+16T= (n.1661+16T=)
c.1103+16T= (n.1103+16T=)
c.1013+16T= (n.1013+16T=)
4g.72313661A>TCA2956864ADAMTS3c.1745+16T>A (n.1745+16T>A)
c.1688+16T>A (n.1688+16T>A)
c.1661+16T>A (n.1661+16T>A)
c.1103+16T>A (n.1103+16T>A)
c.1013+16T>A (n.1013+16T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.72313662C=CA1467599766ADAMTS3c.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=)
4g.72313662C>GCA552478884ADAMTS3c.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
4g.72313662_72313663delinsCACA1467599768ADAMTS3c.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)
4g.72313663A>GCA2670948935ADAMTS3c.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
4g.72313664delCA552478886ADAMTS3c.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
4g.72313664A=CA1467599773ADAMTS3c.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=)
4g.72313664A>TCA552478888ADAMTS3c.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
4g.72313665G>ACA2670948936ADAMTS3c.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
4g.72313666G>ACA552478889ADAMTS3c.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
4g.72313666G=CA1467599775ADAMTS3c.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=)
4g.72313667A=CA1467599776ADAMTS3c.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=)
4g.72313667A>TCA1467599778ADAMTS3c.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
4g.72313668T>CCA552478891ADAMTS3c.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
4g.72313668T=CA1467599780ADAMTS3c.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=)
4g.72313669A=CA1467599784ADAMTS3c.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=)
4g.72313669A>TCA99549856ADAMTS3c.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
4g.72313670T>CCA552478892ADAMTS3c.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
4g.72313670T=CA1467599787ADAMTS3c.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=)
4g.72313672C=CA1467599788ADAMTS3c.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=)
4g.72313672C>TCA552478893ADAMTS3c.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
4g.72313673T>CCA2670948937ADAMTS3c.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
4g.72313675A>CCA357430692ADAMTS3c.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)
4g.72313675A>GCA357430690ADAMTS3c.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)
4g.72313675A>TCA357430691ADAMTS3c.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)
4g.72313676C>ACA357430693ADAMTS3c.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
4g.72313676C>GCA357430694ADAMTS3c.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)
4g.72313676C>TCA357430695ADAMTS3c.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)
4g.72313677A=CA1467599793ADAMTS3c.1745T= (p.Met582=)
c.1688T= (p.Met563=)
c.1661T= (p.Met554=)
c.1103T= (p.Met368=)
c.1013T= (p.Met338=)
4g.72313677A>CCA357430696ADAMTS3c.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
4g.72313677A>GCA357430697ADAMTS3c.1745T>C (p.Met582Thr)
c.1688T>C (p.Met563Thr)
c.1661T>C (p.Met554Thr)
c.1103T>C (p.Met368Thr)
c.1013T>C (p.Met338Thr)
4g.72313677A>TCA357430698ADAMTS3c.1745T>A (p.Met582Lys)
c.1688T>A (p.Met563Lys)
c.1661T>A (p.Met554Lys)
c.1103T>A (p.Met368Lys)
c.1013T>A (p.Met338Lys)
4g.72313678T>ACA357430699ADAMTS3c.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
4g.72313678T>CCA357430700ADAMTS3c.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
4g.72313678T>GCA357430701ADAMTS3c.1744A>C (p.Met582Leu)
c.1687A>C (p.Met563Leu)
c.1660A>C (p.Met554Leu)
c.1102A>C (p.Met368Leu)
c.1012A>C (p.Met338Leu)
4g.72313678T=CA1467599796ADAMTS3c.1744A= (p.Met582=)
c.1687A= (p.Met563=)
c.1660A= (p.Met554=)
c.1102A= (p.Met368=)
c.1012A= (p.Met338=)
4g.72313679G>ACA2956865ADAMTS3c.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
4g.72313679G>CCA439879057ADAMTS3c.1743C>G (p.Pro581=)
c.1686C>G (p.Pro562=)
c.1659C>G (p.Pro553=)
c.1101C>G (p.Pro367=)
c.1011C>G (p.Pro337=)
4g.72313679G=CA1467599799ADAMTS3c.1743C= (p.Pro581=)
c.1686C= (p.Pro562=)
c.1659C= (p.Pro553=)
c.1101C= (p.Pro367=)
c.1011C= (p.Pro337=)
4g.72313679G>TCA439879058ADAMTS3c.1743C>A (p.Pro581=)
c.1686C>A (p.Pro562=)
c.1659C>A (p.Pro553=)
c.1101C>A (p.Pro367=)
c.1011C>A (p.Pro337=)
4g.72313680G>ACA357430703ADAMTS3c.1742C>T (p.Pro581Leu)
c.1685C>T (p.Pro562Leu)
c.1658C>T (p.Pro553Leu)
c.1100C>T (p.Pro367Leu)
c.1010C>T (p.Pro337Leu)
4g.72313680G>CCA357430704ADAMTS3c.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
4g.72313680G>TCA357430702ADAMTS3c.1742C>A (p.Pro581His)
c.1685C>A (p.Pro562His)
c.1658C>A (p.Pro553His)
c.1100C>A (p.Pro367His)
c.1010C>A (p.Pro337His)
4g.72313681G>ACA357430705ADAMTS3c.1741C>T (p.Pro581Ser)
c.1684C>T (p.Pro562Ser)
c.1657C>T (p.Pro553Ser)
c.1099C>T (p.Pro367Ser)
c.1009C>T (p.Pro337Ser)
4g.72313681G>CCA357430706ADAMTS3c.1741C>G (p.Pro581Ala)
c.1684C>G (p.Pro562Ala)
c.1657C>G (p.Pro553Ala)
c.1099C>G (p.Pro367Ala)
c.1009C>G (p.Pro337Ala)
4g.72313681G>TCA357430707ADAMTS3c.1741C>A (p.Pro581Thr)
c.1684C>A (p.Pro562Thr)
c.1657C>A (p.Pro553Thr)
c.1099C>A (p.Pro367Thr)
c.1009C>A (p.Pro337Thr)
4g.72313682A>CCA357430708ADAMTS3c.1740T>G (p.Asn580Lys)
c.1683T>G (p.Asn561Lys)
c.1656T>G (p.Asn552Lys)
c.1098T>G (p.Asn366Lys)
c.1008T>G (p.Asn336Lys)
4g.72313682A>GCA439879061ADAMTS3c.1740T>C (p.Asn580=)
c.1683T>C (p.Asn561=)
c.1656T>C (p.Asn552=)
c.1098T>C (p.Asn366=)
c.1008T>C (p.Asn336=)
4g.72313682A>TCA357430709ADAMTS3c.1740T>A (p.Asn580Lys)
c.1683T>A (p.Asn561Lys)
c.1656T>A (p.Asn552Lys)
c.1098T>A (p.Asn366Lys)
c.1008T>A (p.Asn336Lys)
4g.72313683T>ACA357430712ADAMTS3c.1739A>T (p.Asn580Ile)
c.1682A>T (p.Asn561Ile)
c.1655A>T (p.Asn552Ile)
c.1097A>T (p.Asn366Ile)
c.1007A>T (p.Asn336Ile)
4g.72313683T>CCA357430710ADAMTS3c.1739A>G (p.Asn580Ser)
c.1682A>G (p.Asn561Ser)
c.1655A>G (p.Asn552Ser)
c.1097A>G (p.Asn366Ser)
c.1007A>G (p.Asn336Ser)
4g.72313683T>GCA357430711ADAMTS3c.1739A>C (p.Asn580Thr)
c.1682A>C (p.Asn561Thr)
c.1655A>C (p.Asn552Thr)
c.1097A>C (p.Asn366Thr)
c.1007A>C (p.Asn336Thr)
4g.72313684T>ACA357430713ADAMTS3c.1738A>T (p.Asn580Tyr)
c.1681A>T (p.Asn561Tyr)
c.1654A>T (p.Asn552Tyr)
c.1096A>T (p.Asn366Tyr)
c.1006A>T (p.Asn336Tyr)
4g.72313684T>CCA357430714ADAMTS3c.1738A>G (p.Asn580Asp)
c.1681A>G (p.Asn561Asp)
c.1654A>G (p.Asn552Asp)
c.1096A>G (p.Asn366Asp)
c.1006A>G (p.Asn336Asp)
4g.72313684T>GCA357430715ADAMTS3c.1738A>C (p.Asn580His)
c.1681A>C (p.Asn561His)
c.1654A>C (p.Asn552His)
c.1096A>C (p.Asn366His)
c.1006A>C (p.Asn336His)
4g.72313685A>CCA357430716ADAMTS3c.1737T>G (p.Asn579Lys)
c.1680T>G (p.Asn560Lys)
c.1653T>G (p.Asn551Lys)
c.1095T>G (p.Asn365Lys)
c.1005T>G (p.Asn335Lys)
4g.72313685A>GCA439879069ADAMTS3c.1737T>C (p.Asn579=)
c.1680T>C (p.Asn560=)
c.1653T>C (p.Asn551=)
c.1095T>C (p.Asn365=)
c.1005T>C (p.Asn335=)
4g.72313685A>TCA357430717ADAMTS3c.1737T>A (p.Asn579Lys)
c.1680T>A (p.Asn560Lys)
c.1653T>A (p.Asn551Lys)
c.1095T>A (p.Asn365Lys)
c.1005T>A (p.Asn335Lys)
4g.72313686T>ACA357430720ADAMTS3c.1736A>T (p.Asn579Ile)
c.1679A>T (p.Asn560Ile)
c.1652A>T (p.Asn551Ile)
c.1094A>T (p.Asn365Ile)
c.1004A>T (p.Asn335Ile)
4g.72313686T>CCA357430719ADAMTS3c.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
4g.72313686T>GCA357430718ADAMTS3c.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
4g.72313687T>ACA357430721ADAMTS3c.1735A>T (p.Asn579Tyr)
c.1678A>T (p.Asn560Tyr)
c.1651A>T (p.Asn551Tyr)
c.1093A>T (p.Asn365Tyr)
c.1003A>T (p.Asn335Tyr)
4g.72313687T>CCA357430722ADAMTS3c.1735A>G (p.Asn579Asp)
c.1678A>G (p.Asn560Asp)
c.1651A>G (p.Asn551Asp)
c.1093A>G (p.Asn365Asp)
c.1003A>G (p.Asn335Asp)
4g.72313687T>GCA357430723ADAMTS3c.1735A>C (p.Asn579His)
c.1678A>C (p.Asn560His)
c.1651A>C (p.Asn551His)
c.1093A>C (p.Asn365His)
c.1003A>C (p.Asn335His)
4g.72313688G>ACA439879073ADAMTS3c.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
4g.72313688G>CCA357430724ADAMTS3c.1734C>G (p.Cys578Trp)
c.1677C>G (p.Cys559Trp)
c.1650C>G (p.Cys550Trp)
c.1092C>G (p.Cys364Trp)
c.1002C>G (p.Cys334Trp)
4g.72313688G=CA1467599804ADAMTS3c.1734C= (p.Cys578=)
c.1677C= (p.Cys559=)
c.1650C= (p.Cys550=)
c.1092C= (p.Cys364=)
c.1002C= (p.Cys334=)
4g.72313688G>TCA357430725ADAMTS3c.1734C>A (p.Cys578Ter)
c.1677C>A (p.Cys559Ter)
c.1650C>A (p.Cys550Ter)
c.1092C>A (p.Cys364Ter)
c.1002C>A (p.Cys334Ter)
4g.72313689C>ACA357430726ADAMTS3c.1733G>T (p.Cys578Phe)
c.1676G>T (p.Cys559Phe)
c.1649G>T (p.Cys550Phe)
c.1091G>T (p.Cys364Phe)
c.1001G>T (p.Cys334Phe)
4g.72313689C>GCA357430727ADAMTS3c.1733G>C (p.Cys578Ser)
c.1676G>C (p.Cys559Ser)
c.1649G>C (p.Cys550Ser)
c.1091G>C (p.Cys364Ser)
c.1001G>C (p.Cys334Ser)
4g.72313689C>TCA357430728ADAMTS3c.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
4g.72313690A>CCA357430729ADAMTS3c.1732T>G (p.Cys578Gly)
c.1675T>G (p.Cys559Gly)
c.1648T>G (p.Cys550Gly)
c.1090T>G (p.Cys364Gly)
c.1000T>G (p.Cys334Gly)
4g.72313690A>GCA357430730ADAMTS3c.1732T>C (p.Cys578Arg)
c.1675T>C (p.Cys559Arg)
c.1648T>C (p.Cys550Arg)
c.1090T>C (p.Cys364Arg)
c.1000T>C (p.Cys334Arg)
4g.72313690A>TCA357430731ADAMTS3c.1732T>A (p.Cys578Ser)
c.1675T>A (p.Cys559Ser)
c.1648T>A (p.Cys550Ser)
c.1090T>A (p.Cys364Ser)
c.1000T>A (p.Cys334Ser)
4g.72313691C>ACA357430732ADAMTS3c.1731G>T (p.Gln577His)
c.1674G>T (p.Gln558His)
c.1647G>T (p.Gln549His)
c.1089G>T (p.Gln363His)
c.999G>T (p.Gln333His)
4g.72313691C=CA1467599807ADAMTS3c.1731G= (p.Gln577=)
c.1674G= (p.Gln558=)
c.1647G= (p.Gln549=)
c.1089G= (p.Gln363=)
c.999G= (p.Gln333=)
4g.72313691C>GCA2956866ADAMTS3c.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
4g.72313691C>TCA439879079ADAMTS3c.1731G>A (p.Gln577=)
c.1674G>A (p.Gln558=)
c.1647G>A (p.Gln549=)
c.1089G>A (p.Gln363=)
c.999G>A (p.Gln333=)
4g.72313692T>ACA357430735ADAMTS3c.1730A>T (p.Gln577Leu)
c.1673A>T (p.Gln558Leu)
c.1646A>T (p.Gln549Leu)
c.1088A>T (p.Gln363Leu)
c.998A>T (p.Gln333Leu)
4g.72313692T>CCA357430733ADAMTS3c.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
4g.72313692T>GCA357430734ADAMTS3c.1730A>C (p.Gln577Pro)
c.1673A>C (p.Gln558Pro)
c.1646A>C (p.Gln549Pro)
c.1088A>C (p.Gln363Pro)
c.998A>C (p.Gln333Pro)
4g.72313692T=CA1467599808ADAMTS3c.1730A= (p.Gln577=)
c.1673A= (p.Gln558=)
c.1646A= (p.Gln549=)
c.1088A= (p.Gln363=)
c.998A= (p.Gln333=)
4g.72313693G>ACA357430736ADAMTS3c.1729C>T (p.Gln577Ter)
c.1672C>T (p.Gln558Ter)
c.1645C>T (p.Gln549Ter)
c.1087C>T (p.Gln363Ter)
c.997C>T (p.Gln333Ter)
4g.72313693G>CCA357430737ADAMTS3c.1729C>G (p.Gln577Glu)
c.1672C>G (p.Gln558Glu)
c.1645C>G (p.Gln549Glu)
c.1087C>G (p.Gln363Glu)
c.997C>G (p.Gln333Glu)
4g.72313693G>TCA357430738ADAMTS3c.1729C>A (p.Gln577Lys)
c.1672C>A (p.Gln558Lys)
c.1645C>A (p.Gln549Lys)
c.1087C>A (p.Gln363Lys)
c.997C>A (p.Gln333Lys)
4g.72313694G>ACA439879083ADAMTS3c.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
4g.72313694G>CCA439879082ADAMTS3c.1728C>G (p.Arg576=)
c.1671C>G (p.Arg557=)
c.1644C>G (p.Arg548=)
c.1086C>G (p.Arg362=)
c.996C>G (p.Arg332=)
4g.72313694G=CA1467599810ADAMTS3c.1728C= (p.Arg576=)
c.1671C= (p.Arg557=)
c.1644C= (p.Arg548=)
c.1086C= (p.Arg362=)
c.996C= (p.Arg332=)
4g.72313694G>TCA439879080ADAMTS3c.1728C>A (p.Arg576=)
c.1671C>A (p.Arg557=)
c.1644C>A (p.Arg548=)
c.1086C>A (p.Arg362=)
c.996C>A (p.Arg332=)
4g.72313695C>ACA2956868ADAMTS3c.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
4g.72313695C=CA1467599812ADAMTS3c.1727G= (p.Arg576=)
c.1670G= (p.Arg557=)
c.1643G= (p.Arg548=)
c.1085G= (p.Arg362=)
c.995G= (p.Arg332=)
4g.72313695C>GCA357430739ADAMTS3c.1727G>C (p.Arg576Pro)
c.1670G>C (p.Arg557Pro)
c.1643G>C (p.Arg548Pro)
c.1085G>C (p.Arg362Pro)
c.995G>C (p.Arg332Pro)
4g.72313695C>TCA2956867ADAMTS3c.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
4g.72313696G>ACA357430740ADAMTS3c.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
4g.72313696G>CCA357430741ADAMTS3c.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
4g.72313696G=CA1467599818ADAMTS3c.1726C= (p.Arg576=)
c.1669C= (p.Arg557=)
c.1642C= (p.Arg548=)
c.1084C= (p.Arg362=)
c.994C= (p.Arg332=)
4g.72313696G>TCA357430742ADAMTS3c.1726C>A (p.Arg576Ser)
c.1669C>A (p.Arg557Ser)
c.1642C>A (p.Arg548Ser)
c.1084C>A (p.Arg362Ser)
c.994C>A (p.Arg332Ser)
4g.72313697T>ACA439879087ADAMTS3c.1725A>T (p.Thr575=)
c.1668A>T (p.Thr556=)
c.1641A>T (p.Thr547=)
c.1083A>T (p.Thr361=)
c.993A>T (p.Thr331=)
4g.72313697T>CCA439879089ADAMTS3c.1725A>G (p.Thr575=)
c.1668A>G (p.Thr556=)
c.1641A>G (p.Thr547=)
c.1083A>G (p.Thr361=)
c.993A>G (p.Thr331=)
4g.72313697T>GCA439879088ADAMTS3c.1725A>C (p.Thr575=)
c.1668A>C (p.Thr556=)
c.1641A>C (p.Thr547=)
c.1083A>C (p.Thr361=)
c.993A>C (p.Thr331=)
4g.72313698G>ACA2956869ADAMTS3c.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
4g.72313698G>CCA357430743ADAMTS3c.1724C>G (p.Thr575Arg)
c.1667C>G (p.Thr556Arg)
c.1640C>G (p.Thr547Arg)
c.1082C>G (p.Thr361Arg)
c.992C>G (p.Thr331Arg)
4g.72313698G=CA1467599824ADAMTS3c.1724C= (p.Thr575=)
c.1667C= (p.Thr556=)
c.1640C= (p.Thr547=)
c.1082C= (p.Thr361=)
c.992C= (p.Thr331=)
4g.72313698G>TCA357430744ADAMTS3c.1724C>A (p.Thr575Lys)
c.1667C>A (p.Thr556Lys)
c.1640C>A (p.Thr547Lys)
c.1082C>A (p.Thr361Lys)
c.992C>A (p.Thr331Lys)
4g.72313699T>ACA357430745ADAMTS3c.1723A>T (p.Thr575Ser)
c.1666A>T (p.Thr556Ser)
c.1639A>T (p.Thr547Ser)
c.1081A>T (p.Thr361Ser)
c.991A>T (p.Thr331Ser)
4g.72313699T>CCA2956870ADAMTS3c.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
4g.72313699T>GCA357430746ADAMTS3c.1723A>C (p.Thr575Pro)
c.1666A>C (p.Thr556Pro)
c.1639A>C (p.Thr547Pro)
c.1081A>C (p.Thr361Pro)
c.991A>C (p.Thr331Pro)
4g.72313699T=CA1467599828ADAMTS3c.1723A= (p.Thr575=)
c.1666A= (p.Thr556=)
c.1639A= (p.Thr547=)
c.1081A= (p.Thr361=)
c.991A= (p.Thr331=)
4g.72313700T>ACA357430747ADAMTS3c.1722A>T (p.Arg574Ser)
c.1665A>T (p.Arg555Ser)
c.1638A>T (p.Arg546Ser)
c.1080A>T (p.Arg360Ser)
c.990A>T (p.Arg330Ser)
4g.72313700T>CCA2956871ADAMTS3c.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
4g.72313700T>GCA357430748ADAMTS3c.1722A>C (p.Arg574Ser)
c.1665A>C (p.Arg555Ser)
c.1638A>C (p.Arg546Ser)
c.1080A>C (p.Arg360Ser)
c.990A>C (p.Arg330Ser)
4g.72313700T=CA1467599830ADAMTS3c.1722A= (p.Arg574=)
c.1665A= (p.Arg555=)
c.1638A= (p.Arg546=)
c.1080A= (p.Arg360=)
c.990A= (p.Arg330=)
4g.72313701C>ACA357430749ADAMTS3c.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
4g.72313701C>GCA357430751ADAMTS3c.1721G>C (p.Arg574Thr)
c.1664G>C (p.Arg555Thr)
c.1637G>C (p.Arg546Thr)
c.1079G>C (p.Arg360Thr)
c.989G>C (p.Arg330Thr)
4g.72313701C>TCA357430750ADAMTS3c.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
4g.72313702T>ACA357430752ADAMTS3c.1720A>T (p.Arg574Ter)
c.1663A>T (p.Arg555Ter)
c.1636A>T (p.Arg546Ter)
c.1078A>T (p.Arg360Ter)
c.988A>T (p.Arg330Ter)
4g.72313702T>CCA357430753ADAMTS3c.1720A>G (p.Arg574Gly)
c.1663A>G (p.Arg555Gly)
c.1636A>G (p.Arg546Gly)
c.1078A>G (p.Arg360Gly)
c.988A>G (p.Arg330Gly)
4g.72313702T>GCA439879095ADAMTS3c.1720A>C (p.Arg574=)
c.1663A>C (p.Arg555=)
c.1636A>C (p.Arg546=)
c.1078A>C (p.Arg360=)
c.988A>C (p.Arg330=)
4g.72313703G>ACA439879097ADAMTS3c.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
4g.72313703G>CCA357430754ADAMTS3c.1719C>G (p.Phe573Leu)
c.1662C>G (p.Phe554Leu)
c.1635C>G (p.Phe545Leu)
c.1077C>G (p.Phe359Leu)
c.987C>G (p.Phe329Leu)
4g.72313703G=CA1467599834ADAMTS3c.1719C= (p.Phe573=)
c.1662C= (p.Phe554=)
c.1635C= (p.Phe545=)
c.1077C= (p.Phe359=)
c.987C= (p.Phe329=)
4g.72313703G>TCA357430755ADAMTS3c.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
4g.72313704A>CCA357430756ADAMTS3c.1718T>G (p.Phe573Cys)
c.1661T>G (p.Phe554Cys)
c.1634T>G (p.Phe545Cys)
c.1076T>G (p.Phe359Cys)
c.986T>G (p.Phe329Cys)
4g.72313704A>GCA357430757ADAMTS3c.1718T>C (p.Phe573Ser)
c.1661T>C (p.Phe554Ser)
c.1634T>C (p.Phe545Ser)
c.1076T>C (p.Phe359Ser)
c.986T>C (p.Phe329Ser)
4g.72313704A>TCA357430758ADAMTS3c.1718T>A (p.Phe573Tyr)
c.1661T>A (p.Phe554Tyr)
c.1634T>A (p.Phe545Tyr)
c.1076T>A (p.Phe359Tyr)
c.986T>A (p.Phe329Tyr)
4g.72313705A>CCA357430759ADAMTS3c.1717T>G (p.Phe573Val)
c.1660T>G (p.Phe554Val)
c.1633T>G (p.Phe545Val)
c.1075T>G (p.Phe359Val)
c.985T>G (p.Phe329Val)
4g.72313705A>GCA357430760ADAMTS3c.1717T>C (p.Phe573Leu)
c.1660T>C (p.Phe554Leu)
c.1633T>C (p.Phe545Leu)
c.1075T>C (p.Phe359Leu)
c.985T>C (p.Phe329Leu)
4g.72313705A>TCA357430761ADAMTS3c.1717T>A (p.Phe573Ile)
c.1660T>A (p.Phe554Ile)
c.1633T>A (p.Phe545Ile)
c.1075T>A (p.Phe359Ile)
c.985T>A (p.Phe329Ile)
4g.72313706A>CCA439879102ADAMTS3c.1716T>G (p.Arg572=)
c.1659T>G (p.Arg553=)
c.1632T>G (p.Arg544=)
c.1074T>G (p.Arg358=)
c.984T>G (p.Arg328=)
4g.72313706A>GCA439879103ADAMTS3c.1716T>C (p.Arg572=)
c.1659T>C (p.Arg553=)
c.1632T>C (p.Arg544=)
c.1074T>C (p.Arg358=)
c.984T>C (p.Arg328=)
4g.72313706A>TCA439879104ADAMTS3c.1716T>A (p.Arg572=)
c.1659T>A (p.Arg553=)
c.1632T>A (p.Arg544=)
c.1074T>A (p.Arg358=)
c.984T>A (p.Arg328=)
4g.72313707C>ACA357430762ADAMTS3c.1715G>T (p.Arg572Leu)
c.1658G>T (p.Arg553Leu)
c.1631G>T (p.Arg544Leu)
c.1073G>T (p.Arg358Leu)
c.983G>T (p.Arg328Leu)
4g.72313707C=CA1467599838ADAMTS3c.1715G= (p.Arg572=)
c.1658G= (p.Arg553=)
c.1631G= (p.Arg544=)
c.1073G= (p.Arg358=)
c.983G= (p.Arg328=)
4g.72313707C>GCA357430763ADAMTS3c.1715G>C (p.Arg572Pro)
c.1658G>C (p.Arg553Pro)
c.1631G>C (p.Arg544Pro)
c.1073G>C (p.Arg358Pro)
c.983G>C (p.Arg328Pro)
4g.72313707C>TCA2956872ADAMTS3c.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
4g.72313708G>ACA2956873ADAMTS3c.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
4g.72313708G>CCA2956874ADAMTS3c.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
4g.72313708G=CA1467599844ADAMTS3c.1714C= (p.Arg572=)
c.1657C= (p.Arg553=)
c.1630C= (p.Arg544=)
c.1072C= (p.Arg358=)
c.982C= (p.Arg328=)
4g.72313708G>TCA357430764ADAMTS3c.1714C>A (p.Arg572Ser)
c.1657C>A (p.Arg553Ser)
c.1630C>A (p.Arg544Ser)
c.1072C>A (p.Arg358Ser)
c.982C>A (p.Arg328Ser)
4g.72313709A>CCA439879105ADAMTS3c.1713T>G (p.Val571=)
c.1656T>G (p.Val552=)
c.1629T>G (p.Val543=)
c.1071T>G (p.Val357=)
c.981T>G (p.Val327=)
4g.72313709A>GCA439879106ADAMTS3c.1713T>C (p.Val571=)
c.1656T>C (p.Val552=)
c.1629T>C (p.Val543=)
c.1071T>C (p.Val357=)
c.981T>C (p.Val327=)
4g.72313709A>TCA439879107ADAMTS3c.1713T>A (p.Val571=)
c.1656T>A (p.Val552=)
c.1629T>A (p.Val543=)
c.1071T>A (p.Val357=)
c.981T>A (p.Val327=)
4g.72313710A>CCA357430765ADAMTS3c.1712T>G (p.Val571Gly)
c.1655T>G (p.Val552Gly)
c.1628T>G (p.Val543Gly)
c.1070T>G (p.Val357Gly)
c.980T>G (p.Val327Gly)
4g.72313710A>GCA357430766ADAMTS3c.1712T>C (p.Val571Ala)
c.1655T>C (p.Val552Ala)
c.1628T>C (p.Val543Ala)
c.1070T>C (p.Val357Ala)
c.980T>C (p.Val327Ala)
4g.72313710A>TCA357430767ADAMTS3c.1712T>A (p.Val571Asp)
c.1655T>A (p.Val552Asp)
c.1628T>A (p.Val543Asp)
c.1070T>A (p.Val357Asp)
c.980T>A (p.Val327Asp)
4g.72313711C>ACA357430768ADAMTS3c.1711G>T (p.Val571Phe)
c.1654G>T (p.Val552Phe)
c.1627G>T (p.Val543Phe)
c.1069G>T (p.Val357Phe)
c.979G>T (p.Val327Phe)
4g.72313711C>GCA357430769ADAMTS3c.1711G>C (p.Val571Leu)
c.1654G>C (p.Val552Leu)
c.1627G>C (p.Val543Leu)
c.1069G>C (p.Val357Leu)
c.979G>C (p.Val327Leu)
4g.72313711C>TCA357430770ADAMTS3c.1711G>A (p.Val571Ile)
c.1654G>A (p.Val552Ile)
c.1627G>A (p.Val543Ile)
c.1069G>A (p.Val357Ile)
c.979G>A (p.Val327Ile)
4g.72313712A>CCA439879108ADAMTS3c.1710T>G (p.Gly570=)
c.1653T>G (p.Gly551=)
c.1626T>G (p.Gly542=)
c.1068T>G (p.Gly356=)
c.978T>G (p.Gly326=)
4g.72313712A>GCA439879110ADAMTS3c.1710T>C (p.Gly570=)
c.1653T>C (p.Gly551=)
c.1626T>C (p.Gly542=)
c.1068T>C (p.Gly356=)
c.978T>C (p.Gly326=)
4g.72313712A>TCA439879109ADAMTS3c.1710T>A (p.Gly570=)
c.1653T>A (p.Gly551=)
c.1626T>A (p.Gly542=)
c.1068T>A (p.Gly356=)
c.978T>A (p.Gly326=)
4g.72313713C>ACA357430771ADAMTS3c.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
4g.72313713C=CA1467599848ADAMTS3c.1709G= (p.Gly570=)
c.1652G= (p.Gly551=)
c.1625G= (p.Gly542=)
c.1067G= (p.Gly356=)
c.977G= (p.Gly326=)
4g.72313713C>GCA357430772ADAMTS3c.1709G>C (p.Gly570Ala)
c.1652G>C (p.Gly551Ala)
c.1625G>C (p.Gly542Ala)
c.1067G>C (p.Gly356Ala)
c.977G>C (p.Gly326Ala)
4g.72313713C>TCA357430773ADAMTS3c.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
4g.72313714C>ACA357430776ADAMTS3c.1708G>T (p.Gly570Cys)
c.1651G>T (p.Gly551Cys)
c.1624G>T (p.Gly542Cys)
c.1066G>T (p.Gly356Cys)
c.976G>T (p.Gly326Cys)
4g.72313714C>GCA357430775ADAMTS3c.1708G>C (p.Gly570Arg)
c.1651G>C (p.Gly551Arg)
c.1624G>C (p.Gly542Arg)
c.1066G>C (p.Gly356Arg)
c.976G>C (p.Gly326Arg)
4g.72313714C>TCA357430774ADAMTS3c.1708G>A (p.Gly570Ser)
c.1651G>A (p.Gly551Ser)
c.1624G>A (p.Gly542Ser)
c.1066G>A (p.Gly356Ser)
c.976G>A (p.Gly326Ser)
4g.72313715A>CCA439879111ADAMTS3c.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
4g.72313715A>GCA439879112ADAMTS3c.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
4g.72313715A>TCA439879113ADAMTS3c.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
4g.72313716G>ACA2956875ADAMTS3c.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
4g.72313716G>CCA357430777ADAMTS3c.1706C>G (p.Thr569Ser)
c.1649C>G (p.Thr550Ser)
c.1622C>G (p.Thr541Ser)
c.1064C>G (p.Thr355Ser)
c.974C>G (p.Thr325Ser)
4g.72313716G=CA1467599852ADAMTS3c.1706C= (p.Thr569=)
c.1649C= (p.Thr550=)
c.1622C= (p.Thr541=)
c.1064C= (p.Thr355=)
c.974C= (p.Thr325=)
4g.72313716G>TCA357430778ADAMTS3c.1706C>A (p.Thr569Asn)
c.1649C>A (p.Thr550Asn)
c.1622C>A (p.Thr541Asn)
c.1064C>A (p.Thr355Asn)
c.974C>A (p.Thr325Asn)
4g.72313717T>ACA357430779ADAMTS3c.1705A>T (p.Thr569Ser)
c.1648A>T (p.Thr550Ser)
c.1621A>T (p.Thr541Ser)
c.1063A>T (p.Thr355Ser)
c.973A>T (p.Thr325Ser)
4g.72313717T>CCA357430780ADAMTS3c.1705A>G (p.Thr569Ala)
c.1648A>G (p.Thr550Ala)
c.1621A>G (p.Thr541Ala)
c.1063A>G (p.Thr355Ala)
c.973A>G (p.Thr325Ala)
4g.72313717T>GCA357430781ADAMTS3c.1705A>C (p.Thr569Pro)
c.1648A>C (p.Thr550Pro)
c.1621A>C (p.Thr541Pro)
c.1063A>C (p.Thr355Pro)
c.973A>C (p.Thr325Pro)
4g.72313718T>ACA439879114ADAMTS3c.1704A>T (p.Gly568=)
c.1647A>T (p.Gly549=)
c.1620A>T (p.Gly540=)
c.1062A>T (p.Gly354=)
c.972A>T (p.Gly324=)
4g.72313718T>CCA439879115ADAMTS3c.1704A>G (p.Gly568=)
c.1647A>G (p.Gly549=)
c.1620A>G (p.Gly540=)
c.1062A>G (p.Gly354=)
c.972A>G (p.Gly324=)
4g.72313718T>GCA439879116ADAMTS3c.1704A>C (p.Gly568=)
c.1647A>C (p.Gly549=)
c.1620A>C (p.Gly540=)
c.1062A>C (p.Gly354=)
c.972A>C (p.Gly324=)
4g.72313719C>ACA357430782ADAMTS3c.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
4g.72313719C>GCA357430783ADAMTS3c.1703G>C (p.Gly568Ala)
c.1646G>C (p.Gly549Ala)
c.1619G>C (p.Gly540Ala)
c.1061G>C (p.Gly354Ala)
c.971G>C (p.Gly324Ala)
4g.72313719C>TCA357430784ADAMTS3c.1703G>A (p.Gly568Glu)
c.1646G>A (p.Gly549Glu)
c.1619G>A (p.Gly540Glu)
c.1061G>A (p.Gly354Glu)
c.971G>A (p.Gly324Glu)
4g.72313720C>ACA357430785ADAMTS3c.1702G>T (p.Gly568Ter)
c.1645G>T (p.Gly549Ter)
c.1618G>T (p.Gly540Ter)
c.1060G>T (p.Gly354Ter)
c.970G>T (p.Gly324Ter)
4g.72313720C>GCA357430786ADAMTS3c.1702G>C (p.Gly568Arg)
c.1645G>C (p.Gly549Arg)
c.1618G>C (p.Gly540Arg)
c.1060G>C (p.Gly354Arg)
c.970G>C (p.Gly324Arg)
4g.72313720C>TCA357430787ADAMTS3c.1702G>A (p.Gly568Arg)
c.1645G>A (p.Gly549Arg)
c.1618G>A (p.Gly540Arg)
c.1060G>A (p.Gly354Arg)
c.970G>A (p.Gly324Arg)
4g.72313721A>CCA357430789ADAMTS3c.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
4g.72313721A>GCA439879117ADAMTS3c.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
4g.72313721A>TCA357430788ADAMTS3c.1701T>A (p.Cys567Ter)
c.1644T>A (p.Cys548Ter)
c.1617T>A (p.Cys539Ter)
c.1059T>A (p.Cys353Ter)
c.969T>A (p.Cys323Ter)
4g.72313722C>ACA357430790ADAMTS3c.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
4g.72313722C=CA1467599856ADAMTS3c.1700G= (p.Cys567=)
c.1643G= (p.Cys548=)
c.1616G= (p.Cys539=)
c.1058G= (p.Cys353=)
c.968G= (p.Cys323=)
4g.72313722C>GCA357430791ADAMTS3c.1700G>C (p.Cys567Ser)
c.1643G>C (p.Cys548Ser)
c.1616G>C (p.Cys539Ser)
c.1058G>C (p.Cys353Ser)
c.968G>C (p.Cys323Ser)
4g.72313722C>TCA2956876ADAMTS3c.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
4g.72313723A=CA1467599858ADAMTS3c.1699T= (p.Cys567=)
c.1642T= (p.Cys548=)
c.1615T= (p.Cys539=)
c.1057T= (p.Cys353=)
c.967T= (p.Cys323=)
4g.72313723A>CCA357430792ADAMTS3c.1699T>G (p.Cys567Gly)
c.1642T>G (p.Cys548Gly)
c.1615T>G (p.Cys539Gly)
c.1057T>G (p.Cys353Gly)
c.967T>G (p.Cys323Gly)
4g.72313723A>GCA2956877ADAMTS3c.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
4g.72313723A>TCA357430793ADAMTS3c.1699T>A (p.Cys567Ser)
c.1642T>A (p.Cys548Ser)
c.1615T>A (p.Cys539Ser)
c.1057T>A (p.Cys353Ser)
c.967T>A (p.Cys323Ser)
4g.72313724T>ACA439879118ADAMTS3c.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
4g.72313724T>CCA439879119ADAMTS3c.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
4g.72313724T>GCA439879120ADAMTS3c.1698A>C (p.Thr566=)
c.1641A>C (p.Thr547=)
c.1614A>C (p.Thr538=)
c.1056A>C (p.Thr352=)
c.966A>C (p.Thr322=)
4g.72313724T=CA1467599864ADAMTS3c.1698A= (p.Thr566=)
c.1641A= (p.Thr547=)
c.1614A= (p.Thr538=)
c.1056A= (p.Thr352=)
c.966A= (p.Thr322=)
4g.72313725G>ACA2956878ADAMTS3c.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
4g.72313725G>CCA357430794ADAMTS3c.1697C>G (p.Thr566Arg)
c.1640C>G (p.Thr547Arg)
c.1613C>G (p.Thr538Arg)
c.1055C>G (p.Thr352Arg)
c.965C>G (p.Thr322Arg)
4g.72313725G=CA1467599870ADAMTS3c.1697C= (p.Thr566=)
c.1640C= (p.Thr547=)
c.1613C= (p.Thr538=)
c.1055C= (p.Thr352=)
c.965C= (p.Thr322=)
4g.72313725G>TCA357430795ADAMTS3c.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
4g.72313726T>ACA357430796ADAMTS3c.1696A>T (p.Thr566Ser)
c.1639A>T (p.Thr547Ser)
c.1612A>T (p.Thr538Ser)
c.1054A>T (p.Thr352Ser)
c.964A>T (p.Thr322Ser)
4g.72313726T>CCA357430797ADAMTS3c.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
4g.72313726T>GCA357430798ADAMTS3c.1696A>C (p.Thr566Pro)
c.1639A>C (p.Thr547Pro)
c.1612A>C (p.Thr538Pro)
c.1054A>C (p.Thr352Pro)
c.964A>C (p.Thr322Pro)
4g.72313727C>ACA439879121ADAMTS3c.1695G>T (p.Arg565=)
c.1638G>T (p.Arg546=)
c.1611G>T (p.Arg537=)
c.1053G>T (p.Arg351=)
c.963G>T (p.Arg321=)
4g.72313727C>GCA439879122ADAMTS3c.1695G>C (p.Arg565=)
c.1638G>C (p.Arg546=)
c.1611G>C (p.Arg537=)
c.1053G>C (p.Arg351=)
c.963G>C (p.Arg321=)
4g.72313727C>TCA439879123ADAMTS3c.1695G>A (p.Arg565=)
c.1638G>A (p.Arg546=)
c.1611G>A (p.Arg537=)
c.1053G>A (p.Arg351=)
c.963G>A (p.Arg321=)
4g.72313728C>ACA357430800ADAMTS3c.1694G>T (p.Arg565Leu)
c.1637G>T (p.Arg546Leu)
c.1610G>T (p.Arg537Leu)
c.1052G>T (p.Arg351Leu)
c.962G>T (p.Arg321Leu)
4g.72313728C=CA1467599874ADAMTS3c.1694G= (p.Arg565=)
c.1637G= (p.Arg546=)
c.1610G= (p.Arg537=)
c.1052G= (p.Arg351=)
c.962G= (p.Arg321=)
4g.72313728C>GCA357430799ADAMTS3c.1694G>C (p.Arg565Pro)
c.1637G>C (p.Arg546Pro)
c.1610G>C (p.Arg537Pro)
c.1052G>C (p.Arg351Pro)
c.962G>C (p.Arg321Pro)
4g.72313728C>TCA2956879ADAMTS3c.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
4g.72313729G>ACA2956880ADAMTS3c.1693C>T (p.Arg565Trp)
c.1636C>T (p.Arg546Trp)
c.1609C>T (p.Arg537Trp)
c.1051C>T (p.Arg351Trp)
c.961C>T (p.Arg321Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.72313729G>CCA357430801ADAMTS3c.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
4g.72313729G=CA1467599880ADAMTS3c.1693C= (p.Arg565=)
c.1636C= (p.Arg546=)
c.1609C= (p.Arg537=)
c.1051C= (p.Arg351=)
c.961C= (p.Arg321=)
4g.72313729G>TCA439879124ADAMTS3c.1693C>A (p.Arg565=)
c.1636C>A (p.Arg546=)
c.1609C>A (p.Arg537=)
c.1051C>A (p.Arg351=)
c.961C>A (p.Arg321=)
4g.72313730A>CCA439879125ADAMTS3c.1692T>G (p.Ser564=)
c.1635T>G (p.Ser545=)
c.1608T>G (p.Ser536=)
c.1050T>G (p.Ser350=)
c.960T>G (p.Ser320=)
4g.72313730A>GCA439879126ADAMTS3c.1692T>C (p.Ser564=)
c.1635T>C (p.Ser545=)
c.1608T>C (p.Ser536=)
c.1050T>C (p.Ser350=)
c.960T>C (p.Ser320=)
4g.72313730A>TCA439879127ADAMTS3c.1692T>A (p.Ser564=)
c.1635T>A (p.Ser545=)
c.1608T>A (p.Ser536=)
c.1050T>A (p.Ser350=)
c.960T>A (p.Ser320=)
4g.72313731G>ACA357430802ADAMTS3c.1691C>T (p.Ser564Phe)
c.1634C>T (p.Ser545Phe)
c.1607C>T (p.Ser536Phe)
c.1049C>T (p.Ser350Phe)
c.959C>T (p.Ser320Phe)
4g.72313731G>CCA357430803ADAMTS3c.1691C>G (p.Ser564Cys)
c.1634C>G (p.Ser545Cys)
c.1607C>G (p.Ser536Cys)
c.1049C>G (p.Ser350Cys)
c.959C>G (p.Ser320Cys)
4g.72313731G>TCA357430804ADAMTS3c.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
4g.72313732A>CCA357430805ADAMTS3c.1690T>G (p.Ser564Ala)
c.1633T>G (p.Ser545Ala)
c.1606T>G (p.Ser536Ala)
c.1048T>G (p.Ser350Ala)
c.958T>G (p.Ser320Ala)
4g.72313732A>GCA357430806ADAMTS3c.1690T>C (p.Ser564Pro)
c.1633T>C (p.Ser545Pro)
c.1606T>C (p.Ser536Pro)
c.1048T>C (p.Ser350Pro)
c.958T>C (p.Ser320Pro)
4g.72313732A>TCA357430807ADAMTS3c.1690T>A (p.Ser564Thr)
c.1633T>A (p.Ser545Thr)
c.1606T>A (p.Ser536Thr)
c.1048T>A (p.Ser350Thr)
c.958T>A (p.Ser320Thr)
4g.72313733A>CCA357430808ADAMTS3c.1689T>G (p.Cys563Trp)
c.1632T>G (p.Cys544Trp)
c.1605T>G (p.Cys535Trp)
c.1047T>G (p.Cys349Trp)
c.957T>G (p.Cys319Trp)
4g.72313733A>GCA439879128ADAMTS3c.1689T>C (p.Cys563=)
c.1632T>C (p.Cys544=)
c.1605T>C (p.Cys535=)
c.1047T>C (p.Cys349=)
c.957T>C (p.Cys319=)
4g.72313733A>TCA357430809ADAMTS3c.1689T>A (p.Cys563Ter)
c.1632T>A (p.Cys544Ter)
c.1605T>A (p.Cys535Ter)
c.1047T>A (p.Cys349Ter)
c.957T>A (p.Cys319Ter)
4g.72313734C>ACA357430810ADAMTS3c.1688G>T (p.Cys563Phe)
c.1631G>T (p.Cys544Phe)
c.1604G>T (p.Cys535Phe)
c.1046G>T (p.Cys349Phe)
c.956G>T (p.Cys319Phe)
4g.72313734C>GCA357430811ADAMTS3c.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
4g.72313734C>TCA357430812ADAMTS3c.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
4g.72313735A>CCA357430815ADAMTS3c.1687T>G (p.Cys563Gly)
c.1630T>G (p.Cys544Gly)
c.1603T>G (p.Cys535Gly)
c.1045T>G (p.Cys349Gly)
c.955T>G (p.Cys319Gly)
4g.72313735A>GCA357430814ADAMTS3c.1687T>C (p.Cys563Arg)
c.1630T>C (p.Cys544Arg)
c.1603T>C (p.Cys535Arg)
c.1045T>C (p.Cys349Arg)
c.955T>C (p.Cys319Arg)
4g.72313735A>TCA357430813ADAMTS3c.1687T>A (p.Cys563Ser)
c.1630T>A (p.Cys544Ser)
c.1603T>A (p.Cys535Ser)
c.1045T>A (p.Cys349Ser)
c.955T>A (p.Cys319Ser)
4g.72313736G>ACA439879132ADAMTS3c.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
4g.72313736G>CCA439879131ADAMTS3c.1686C>G (p.Ser562=)
c.1629C>G (p.Ser543=)
c.1602C>G (p.Ser534=)
c.1044C>G (p.Ser348=)
c.954C>G (p.Ser318=)
4g.72313736G>TCA439879130ADAMTS3c.1686C>A (p.Ser562=)
c.1629C>A (p.Ser543=)
c.1602C>A (p.Ser534=)
c.1044C>A (p.Ser348=)
c.954C>A (p.Ser318=)
4g.72313737G>ACA357430816ADAMTS3c.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
4g.72313737G>CCA357430817ADAMTS3c.1685C>G (p.Ser562Cys)
c.1628C>G (p.Ser543Cys)
c.1601C>G (p.Ser534Cys)
c.1043C>G (p.Ser348Cys)
c.953C>G (p.Ser318Cys)
4g.72313737G>TCA357430818ADAMTS3c.1685C>A (p.Ser562Tyr)
c.1628C>A (p.Ser543Tyr)
c.1601C>A (p.Ser534Tyr)
c.1043C>A (p.Ser348Tyr)
c.953C>A (p.Ser318Tyr)
4g.72313738A>CCA357430819ADAMTS3c.1684T>G (p.Ser562Ala)
c.1627T>G (p.Ser543Ala)
c.1600T>G (p.Ser534Ala)
c.1042T>G (p.Ser348Ala)
c.952T>G (p.Ser318Ala)
4g.72313738A>GCA357430820ADAMTS3c.1684T>C (p.Ser562Pro)
c.1627T>C (p.Ser543Pro)
c.1600T>C (p.Ser534Pro)
c.1042T>C (p.Ser348Pro)
c.952T>C (p.Ser318Pro)
4g.72313738A>TCA357430821ADAMTS3c.1684T>A (p.Ser562Thr)
c.1627T>A (p.Ser543Thr)
c.1600T>A (p.Ser534Thr)
c.1042T>A (p.Ser348Thr)
c.952T>A (p.Ser318Thr)
4g.72313739G>ACA439879133ADAMTS3c.1683C>T (p.Gly561=)
c.1626C>T (p.Gly542=)
c.1599C>T (p.Gly533=)
c.1041C>T (p.Gly347=)
c.951C>T (p.Gly317=)
4g.72313739G>CCA439879135ADAMTS3c.1683C>G (p.Gly561=)
c.1626C>G (p.Gly542=)
c.1599C>G (p.Gly533=)
c.1041C>G (p.Gly347=)
c.951C>G (p.Gly317=)
4g.72313739G>TCA439879134ADAMTS3c.1683C>A (p.Gly561=)
c.1626C>A (p.Gly542=)
c.1599C>A (p.Gly533=)
c.1041C>A (p.Gly347=)
c.951C>A (p.Gly317=)
4g.72313740C>ACA357430822ADAMTS3c.1682G>T (p.Gly561Val)
c.1625G>T (p.Gly542Val)
c.1598G>T (p.Gly533Val)
c.1040G>T (p.Gly347Val)
c.950G>T (p.Gly317Val)
4g.72313740C=CA1467599882ADAMTS3c.1682G= (p.Gly561=)
c.1625G= (p.Gly542=)
c.1598G= (p.Gly533=)
c.1040G= (p.Gly347=)
c.950G= (p.Gly317=)
4g.72313740C>GCA357430823ADAMTS3c.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
4g.72313740C>TCA357430824ADAMTS3c.1682G>A (p.Gly561Asp)
c.1625G>A (p.Gly542Asp)
c.1598G>A (p.Gly533Asp)
c.1040G>A (p.Gly347Asp)
c.950G>A (p.Gly317Asp)
4g.72313741C>ACA357430825ADAMTS3c.1681G>T (p.Gly561Cys)
c.1624G>T (p.Gly542Cys)
c.1597G>T (p.Gly533Cys)
c.1039G>T (p.Gly347Cys)
c.949G>T (p.Gly317Cys)
4g.72313741C>GCA357430826ADAMTS3c.1681G>C (p.Gly561Arg)
c.1624G>C (p.Gly542Arg)
c.1597G>C (p.Gly533Arg)
c.1039G>C (p.Gly347Arg)
c.949G>C (p.Gly317Arg)
4g.72313741C>TCA357430827ADAMTS3c.1681G>A (p.Gly561Ser)
c.1624G>A (p.Gly542Ser)
c.1597G>A (p.Gly533Ser)
c.1039G>A (p.Gly347Ser)
c.949G>A (p.Gly317Ser)
4g.72313742A>CCA357430828ADAMTS3c.1680T>G (p.Phe560Leu)
c.1623T>G (p.Phe541Leu)
c.1596T>G (p.Phe532Leu)
c.1038T>G (p.Phe346Leu)
c.948T>G (p.Phe316Leu)
4g.72313742A>GCA439879136ADAMTS3c.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
4g.72313742A>TCA357430829ADAMTS3c.1680T>A (p.Phe560Leu)
c.1623T>A (p.Phe541Leu)
c.1596T>A (p.Phe532Leu)
c.1038T>A (p.Phe346Leu)
c.948T>A (p.Phe316Leu)
4g.72313743A=CA1467599886ADAMTS3c.1679T= (p.Phe560=)
c.1622T= (p.Phe541=)
c.1595T= (p.Phe532=)
c.1037T= (p.Phe346=)
c.947T= (p.Phe316=)
4g.72313743A>CCA357430831ADAMTS3c.1679T>G (p.Phe560Cys)
c.1622T>G (p.Phe541Cys)
c.1595T>G (p.Phe532Cys)
c.1037T>G (p.Phe346Cys)
c.947T>G (p.Phe316Cys)
4g.72313743A>GCA357430832ADAMTS3c.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
4g.72313743A>TCA357430830ADAMTS3c.1679T>A (p.Phe560Tyr)
c.1622T>A (p.Phe541Tyr)
c.1595T>A (p.Phe532Tyr)
c.1037T>A (p.Phe346Tyr)
c.947T>A (p.Phe316Tyr)
4g.72313744A>CCA357430833ADAMTS3c.1678T>G (p.Phe560Val)
c.1621T>G (p.Phe541Val)
c.1594T>G (p.Phe532Val)
c.1036T>G (p.Phe346Val)
c.946T>G (p.Phe316Val)
4g.72313744A>GCA357430834ADAMTS3c.1678T>C (p.Phe560Leu)
c.1621T>C (p.Phe541Leu)
c.1594T>C (p.Phe532Leu)
c.1036T>C (p.Phe346Leu)
c.946T>C (p.Phe316Leu)
4g.72313744A>TCA357430835ADAMTS3c.1678T>A (p.Phe560Ile)
c.1621T>A (p.Phe541Ile)
c.1594T>A (p.Phe532Ile)
c.1036T>A (p.Phe346Ile)
c.946T>A (p.Phe316Ile)
4g.72313745T>ACA357430836ADAMTS3c.1677A>T (p.Lys559Asn)
c.1620A>T (p.Lys540Asn)
c.1593A>T (p.Lys531Asn)
c.1035A>T (p.Lys345Asn)
c.945A>T (p.Lys315Asn)
4g.72313745T>CCA2956881ADAMTS3c.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
4g.72313745T>GCA357430837ADAMTS3c.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
4g.72313745T=CA1467599889ADAMTS3c.1677A= (p.Lys559=)
c.1620A= (p.Lys540=)
c.1593A= (p.Lys531=)
c.1035A= (p.Lys345=)
c.945A= (p.Lys315=)
4g.72313746T>ACA357430838ADAMTS3c.1676A>T (p.Lys559Ile)
c.1619A>T (p.Lys540Ile)
c.1592A>T (p.Lys531Ile)
c.1034A>T (p.Lys345Ile)
c.944A>T (p.Lys315Ile)
4g.72313746T>CCA357430839ADAMTS3c.1676A>G (p.Lys559Arg)
c.1619A>G (p.Lys540Arg)
c.1592A>G (p.Lys531Arg)
c.1034A>G (p.Lys345Arg)
c.944A>G (p.Lys315Arg)
4g.72313746T>GCA357430840ADAMTS3c.1676A>C (p.Lys559Thr)
c.1619A>C (p.Lys540Thr)
c.1592A>C (p.Lys531Thr)
c.1034A>C (p.Lys345Thr)
c.944A>C (p.Lys315Thr)
4g.72313747T>ACA357430841ADAMTS3c.1675A>T (p.Lys559Ter)
c.1618A>T (p.Lys540Ter)
c.1591A>T (p.Lys531Ter)
c.1033A>T (p.Lys345Ter)
c.943A>T (p.Lys315Ter)
4g.72313747T>CCA357430842ADAMTS3c.1675A>G (p.Lys559Glu)
c.1618A>G (p.Lys540Glu)
c.1591A>G (p.Lys531Glu)
c.1033A>G (p.Lys345Glu)
c.943A>G (p.Lys315Glu)
4g.72313747T>GCA357430843ADAMTS3c.1675A>C (p.Lys559Gln)
c.1618A>C (p.Lys540Gln)
c.1591A>C (p.Lys531Gln)
c.1033A>C (p.Lys345Gln)
c.943A>C (p.Lys315Gln)
4g.72313748A>CCA439879137ADAMTS3c.1674T>G (p.Thr558=)
c.1617T>G (p.Thr539=)
c.1590T>G (p.Thr530=)
c.1032T>G (p.Thr344=)
c.942T>G (p.Thr314=)
4g.72313748A>GCA439879138ADAMTS3c.1674T>C (p.Thr558=)
c.1617T>C (p.Thr539=)
c.1590T>C (p.Thr530=)
c.1032T>C (p.Thr344=)
c.942T>C (p.Thr314=)
4g.72313748A>TCA439879139ADAMTS3c.1674T>A (p.Thr558=)
c.1617T>A (p.Thr539=)
c.1590T>A (p.Thr530=)
c.1032T>A (p.Thr344=)
c.942T>A (p.Thr314=)
4g.72313749G>ACA2956882ADAMTS3c.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
4g.72313749G>CCA357430844ADAMTS3c.1673C>G (p.Thr558Ser)
c.1616C>G (p.Thr539Ser)
c.1589C>G (p.Thr530Ser)
c.1031C>G (p.Thr344Ser)
c.941C>G (p.Thr314Ser)
4g.72313749G=CA1467599895ADAMTS3c.1673C= (p.Thr558=)
c.1616C= (p.Thr539=)
c.1589C= (p.Thr530=)
c.1031C= (p.Thr344=)
c.941C= (p.Thr314=)
4g.72313749G>TCA357430845ADAMTS3c.1673C>A (p.Thr558Asn)
c.1616C>A (p.Thr539Asn)
c.1589C>A (p.Thr530Asn)
c.1031C>A (p.Thr344Asn)
c.941C>A (p.Thr314Asn)
4g.72313750T>ACA357430846ADAMTS3c.1672A>T (p.Thr558Ser)
c.1615A>T (p.Thr539Ser)
c.1588A>T (p.Thr530Ser)
c.1030A>T (p.Thr344Ser)
c.940A>T (p.Thr314Ser)
4g.72313750T>CCA357430847ADAMTS3c.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
4g.72313750T>GCA357430848ADAMTS3c.1672A>C (p.Thr558Pro)
c.1615A>C (p.Thr539Pro)
c.1588A>C (p.Thr530Pro)
c.1030A>C (p.Thr344Pro)
c.940A>C (p.Thr314Pro)
4g.72313751C>ACA357430849ADAMTS3c.1671G>T (p.Trp557Cys)
c.1614G>T (p.Trp538Cys)
c.1587G>T (p.Trp529Cys)
c.1029G>T (p.Trp343Cys)
c.939G>T (p.Trp313Cys)
4g.72313751C>GCA357430850ADAMTS3c.1671G>C (p.Trp557Cys)
c.1614G>C (p.Trp538Cys)
c.1587G>C (p.Trp529Cys)
c.1029G>C (p.Trp343Cys)
c.939G>C (p.Trp313Cys)
4g.72313751C>TCA357430851ADAMTS3c.1671G>A (p.Trp557Ter)
c.1614G>A (p.Trp538Ter)
c.1587G>A (p.Trp529Ter)
c.1029G>A (p.Trp343Ter)
c.939G>A (p.Trp313Ter)
4g.72313752C>ACA357430852ADAMTS3c.1670G>T (p.Trp557Leu)
c.1613G>T (p.Trp538Leu)
c.1586G>T (p.Trp529Leu)
c.1028G>T (p.Trp343Leu)
c.938G>T (p.Trp313Leu)
4g.72313752C>GCA357430853ADAMTS3c.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
4g.72313752C>TCA357430854ADAMTS3c.1670G>A (p.Trp557Ter)
c.1613G>A (p.Trp538Ter)
c.1586G>A (p.Trp529Ter)
c.1028G>A (p.Trp343Ter)
c.938G>A (p.Trp313Ter)
4g.72313753A>CCA357430855ADAMTS3c.1669T>G (p.Trp557Gly)
c.1612T>G (p.Trp538Gly)
c.1585T>G (p.Trp529Gly)
c.1027T>G (p.Trp343Gly)
c.937T>G (p.Trp313Gly)
4g.72313753A>GCA357430856ADAMTS3c.1669T>C (p.Trp557Arg)
c.1612T>C (p.Trp538Arg)
c.1585T>C (p.Trp529Arg)
c.1027T>C (p.Trp343Arg)
c.937T>C (p.Trp313Arg)
4g.72313753A>TCA357430857ADAMTS3c.1669T>A (p.Trp557Arg)
c.1612T>A (p.Trp538Arg)
c.1585T>A (p.Trp529Arg)
c.1027T>A (p.Trp343Arg)
c.937T>A (p.Trp313Arg)
4g.72313754T>ACA439879141ADAMTS3c.1668A>T (p.Ser556=)
c.1611A>T (p.Ser537=)
c.1584A>T (p.Ser528=)
c.1026A>T (p.Ser342=)
c.936A>T (p.Ser312=)
4g.72313754T>CCA439879142ADAMTS3c.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
4g.72313754T>GCA2956883ADAMTS3c.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
4g.72313754T=CA1467599901ADAMTS3c.1668A= (p.Ser556=)
c.1611A= (p.Ser537=)
c.1584A= (p.Ser528=)
c.1026A= (p.Ser342=)
c.936A= (p.Ser312=)

Number of alleles fetched