Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.77335785C>ACA8181148ADAMTS18c.1830G>T (p.Lys610Asn)
c.-86G>T (n.-86G>T)
c.1314G>T (p.Lys438Asn)
c.594G>T (p.Lys198Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335785C=CA2234406037ADAMTS18c.1830G= (p.Lys610=)
c.-86G= (n.-86G=)
c.1314G= (p.Lys438=)
c.594G= (p.Lys198=)
16g.77335785C>GCA396831862ADAMTS18c.1830G>C (p.Lys610Asn)
c.-86G>C (n.-86G>C)
c.1314G>C (p.Lys438Asn)
c.594G>C (p.Lys198Asn)
 dbSNP gnomAD v2 gnomAD v4
16g.77335785C>TCA496590122ADAMTS18c.1830G>A (p.Lys610=)
c.-86G>A (n.-86G>A)
c.1314G>A (p.Lys438=)
c.594G>A (p.Lys198=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.77335786T>ACA396831863ADAMTS18c.1829A>T (p.Lys610Met)
c.-87A>T (n.-87A>T)
c.1313A>T (p.Lys438Met)
c.593A>T (p.Lys198Met)
16g.77335786T>CCA8181149ADAMTS18c.1829A>G (p.Lys610Arg)
c.-87A>G (n.-87A>G)
c.1313A>G (p.Lys438Arg)
c.593A>G (p.Lys198Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335786T>GCA396831864ADAMTS18c.1829A>C (p.Lys610Thr)
c.-87A>C (n.-87A>C)
c.1313A>C (p.Lys438Thr)
c.593A>C (p.Lys198Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.77335786T=CA2234406038ADAMTS18c.1829A= (p.Lys610=)
c.-87A= (n.-87A=)
c.1313A= (p.Lys438=)
c.593A= (p.Lys198=)
16g.77335787T>ACA396831867ADAMTS18c.1828A>T (p.Lys610Ter)
c.-88A>T (n.-88A>T)
c.1312A>T (p.Lys438Ter)
c.592A>T (p.Lys198Ter)
 gnomAD v4
16g.77335787T>CCA396831869ADAMTS18c.1828A>G (p.Lys610Glu)
c.-88A>G (n.-88A>G)
c.1312A>G (p.Lys438Glu)
c.592A>G (p.Lys198Glu)
16g.77335787T>GCA396831871ADAMTS18c.1828A>C (p.Lys610Gln)
c.-88A>C (n.-88A>C)
c.1312A>C (p.Lys438Gln)
c.592A>C (p.Lys198Gln)
 gnomAD v4
16g.77335788G>ACA496590131ADAMTS18c.1827C>T (p.Val609=)
c.-89C>T (n.-89C>T)
c.1311C>T (p.Val437=)
c.591C>T (p.Val197=)
 dbSNP gnomAD v4
16g.77335788G>CCA496590133ADAMTS18c.1827C>G (p.Val609=)
c.-89C>G (n.-89C>G)
c.1311C>G (p.Val437=)
c.591C>G (p.Val197=)
 gnomAD v4
16g.77335788G=CA2234406042ADAMTS18c.1827C= (p.Val609=)
c.-89C= (n.-89C=)
c.1311C= (p.Val437=)
c.591C= (p.Val197=)
16g.77335788G>TCA496590135ADAMTS18c.1827C>A (p.Val609=)
c.-89C>A (n.-89C>A)
c.1311C>A (p.Val437=)
c.591C>A (p.Val197=)
16g.77335789A=CA2234406044ADAMTS18c.1826T= (p.Val609=)
c.-90T= (n.-90T=)
c.1310T= (p.Val437=)
c.590T= (p.Val197=)
16g.77335789A>CCA396831874ADAMTS18c.1826T>G (p.Val609Gly)
c.-90T>G (n.-90T>G)
c.1310T>G (p.Val437Gly)
c.590T>G (p.Val197Gly)
16g.77335789A>GCA396831883ADAMTS18c.1826T>C (p.Val609Ala)
c.-90T>C (n.-90T>C)
c.1310T>C (p.Val437Ala)
c.590T>C (p.Val197Ala)
 dbSNP gnomAD v2 gnomAD v4
16g.77335789A>TCA396831878ADAMTS18c.1826T>A (p.Val609Asp)
c.-90T>A (n.-90T>A)
c.1310T>A (p.Val437Asp)
c.590T>A (p.Val197Asp)
 gnomAD v4
16g.77335790C>ACA396831886ADAMTS18c.1825G>T (p.Val609Phe)
c.-91G>T (n.-91G>T)
c.1309G>T (p.Val437Phe)
c.589G>T (p.Val197Phe)
16g.77335790C>GCA396831888ADAMTS18c.1825G>C (p.Val609Leu)
c.-91G>C (n.-91G>C)
c.1309G>C (p.Val437Leu)
c.589G>C (p.Val197Leu)
16g.77335790C>TCA396831892ADAMTS18c.1825G>A (p.Val609Ile)
c.-91G>A (n.-91G>A)
c.1309G>A (p.Val437Ile)
c.589G>A (p.Val197Ile)
16g.77335791T>ACA496590148ADAMTS18c.1824A>T (p.Gly608=)
c.-92A>T (n.-92A>T)
c.1308A>T (p.Gly436=)
c.588A>T (p.Gly196=)
 dbSNP
16g.77335791T>CCA496590146ADAMTS18c.1824A>G (p.Gly608=)
c.-92A>G (n.-92A>G)
c.1308A>G (p.Gly436=)
c.588A>G (p.Gly196=)
16g.77335791T>GCA496590144ADAMTS18c.1824A>C (p.Gly608=)
c.-92A>C (n.-92A>C)
c.1308A>C (p.Gly436=)
c.588A>C (p.Gly196=)
16g.77335791T=CA2234406046ADAMTS18c.1824A= (p.Gly608=)
c.-92A= (n.-92A=)
c.1308A= (p.Gly436=)
c.588A= (p.Gly196=)
16g.77335792C>ACA8181150ADAMTS18c.1823G>T (p.Gly608Val)
c.-93G>T (n.-93G>T)
c.1307G>T (p.Gly436Val)
c.587G>T (p.Gly196Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335792C=CA2234406049ADAMTS18c.1823G= (p.Gly608=)
c.-93G= (n.-93G=)
c.1307G= (p.Gly436=)
c.587G= (p.Gly196=)
16g.77335792C>GCA396831894ADAMTS18c.1823G>C (p.Gly608Ala)
c.-93G>C (n.-93G>C)
c.1307G>C (p.Gly436Ala)
c.587G>C (p.Gly196Ala)
16g.77335792C>TCA396831896ADAMTS18c.1823G>A (p.Gly608Glu)
c.-93G>A (n.-93G>A)
c.1307G>A (p.Gly436Glu)
c.587G>A (p.Gly196Glu)
16g.77335793C>ACA396831899ADAMTS18c.1822G>T (p.Gly608Ter)
c.-94G>T (n.-94G>T)
c.1306G>T (p.Gly436Ter)
c.586G>T (p.Gly196Ter)
16g.77335793C=CA2234406052ADAMTS18c.1822G= (p.Gly608=)
c.-94G= (n.-94G=)
c.1306G= (p.Gly436=)
c.586G= (p.Gly196=)
16g.77335793C>GCA396831902ADAMTS18c.1822G>C (p.Gly608Arg)
c.-94G>C (n.-94G>C)
c.1306G>C (p.Gly436Arg)
c.586G>C (p.Gly196Arg)
16g.77335793C>TCA396831905ADAMTS18c.1822G>A (p.Gly608Arg)
c.-94G>A (n.-94G>A)
c.1306G>A (p.Gly436Arg)
c.586G>A (p.Gly196Arg)
 ClinVar dbSNP gnomAD v4
16g.77335794T>ACA496590157ADAMTS18c.1821A>T (p.Gly607=)
c.-95A>T (n.-95A>T)
c.1305A>T (p.Gly435=)
c.585A>T (p.Gly195=)
16g.77335794T>CCA496590159ADAMTS18c.1821A>G (p.Gly607=)
c.-95A>G (n.-95A>G)
c.1305A>G (p.Gly435=)
c.585A>G (p.Gly195=)
16g.77335794T>GCA496590161ADAMTS18c.1821A>C (p.Gly607=)
c.-95A>C (n.-95A>C)
c.1305A>C (p.Gly435=)
c.585A>C (p.Gly195=)
16g.77335795C>ACA396831909ADAMTS18c.1820G>T (p.Gly607Val)
c.-96G>T (n.-96G>T)
c.1304G>T (p.Gly435Val)
c.584G>T (p.Gly195Val)
16g.77335795C>GCA396831910ADAMTS18c.1820G>C (p.Gly607Ala)
c.-96G>C (n.-96G>C)
c.1304G>C (p.Gly435Ala)
c.584G>C (p.Gly195Ala)
16g.77335795C>TCA396831917ADAMTS18c.1820G>A (p.Gly607Glu)
c.-96G>A (n.-96G>A)
c.1304G>A (p.Gly435Glu)
c.584G>A (p.Gly195Glu)
16g.77335799_77335801delCA2807716820ADAMTS18c.1818_1820del (p.Gly607del)
c.-98_-96del (n.-98_-96del)
c.1302_1304del (p.Gly435del)
c.582_584del (p.Gly195del)
16g.77335796C>ACA8181152ADAMTS18c.1819G>T (p.Gly607Ter)
c.-97G>T (n.-97G>T)
c.1303G>T (p.Gly435Ter)
c.583G>T (p.Gly195Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335796C=CA2234406057ADAMTS18c.1819G= (p.Gly607=)
c.-97G= (n.-97G=)
c.1303G= (p.Gly435=)
c.583G= (p.Gly195=)
16g.77335796C>GCA396831923ADAMTS18c.1819G>C (p.Gly607Arg)
c.-97G>C (n.-97G>C)
c.1303G>C (p.Gly435Arg)
c.583G>C (p.Gly195Arg)
16g.77335796C>TCA8181151ADAMTS18c.1819G>A (p.Gly607Arg)
c.-97G>A (n.-97G>A)
c.1303G>A (p.Gly435Arg)
c.583G>A (p.Gly195Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.77335797A>CCA496590170ADAMTS18c.1818T>G (p.Gly606=)
c.-98T>G (n.-98T>G)
c.1302T>G (p.Gly434=)
c.582T>G (p.Gly194=)
16g.77335797A>GCA496590172ADAMTS18c.1818T>C (p.Gly606=)
c.-98T>C (n.-98T>C)
c.1302T>C (p.Gly434=)
c.582T>C (p.Gly194=)
16g.77335797A>TCA496590174ADAMTS18c.1818T>A (p.Gly606=)
c.-98T>A (n.-98T>A)
c.1302T>A (p.Gly434=)
c.582T>A (p.Gly194=)
16g.77335804_77335805insAACCACATGCA2634396341ADAMTS18c.1818_1819insTCATGTGGT (p.Gly606_Gly607insSerCysGly)
c.-98_-97insTCATGTGGT (n.-98_-97insTCATGTGGT)
c.1302_1303insTCATGTGGT (p.Gly434_Gly435insSerCysGly)
c.582_583insTCATGTGGT (p.Gly194_Gly195insSerCysGly)
 gnomAD v4
16g.77335798C>ACA396831932ADAMTS18c.1817G>T (p.Gly606Val)
c.-99G>T (n.-99G>T)
c.1301G>T (p.Gly434Val)
c.581G>T (p.Gly194Val)
16g.77335798C=CA2234406059ADAMTS18c.1817G= (p.Gly606=)
c.-99G= (n.-99G=)
c.1301G= (p.Gly434=)
c.581G= (p.Gly194=)
16g.77335798C>GCA8181153ADAMTS18c.1817G>C (p.Gly606Ala)
c.-99G>C (n.-99G>C)
c.1301G>C (p.Gly434Ala)
c.581G>C (p.Gly194Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335798C>TCA396831937ADAMTS18c.1817G>A (p.Gly606Asp)
c.-99G>A (n.-99G>A)
c.1301G>A (p.Gly434Asp)
c.581G>A (p.Gly194Asp)
16g.77335798_77335799dupCA2807716821ADAMTS18c.1816_1817dup (p.Gly607ValfsTer?)
c.-100_-99dup (n.-100_-99dup)
c.1300_1301dup (p.Gly435ValfsTer?)
c.580_581dup (p.Gly195ValfsTer?)
16g.77335799C>ACA396831940ADAMTS18c.1816G>T (p.Gly606Cys)
c.-100G>T (n.-100G>T)
c.1300G>T (p.Gly434Cys)
c.580G>T (p.Gly194Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.77335799C=CA2234406061ADAMTS18c.1816G= (p.Gly606=)
c.-100G= (n.-100G=)
c.1300G= (p.Gly434=)
c.580G= (p.Gly194=)
16g.77335799C>GCA284408943ADAMTS18c.1816G>C (p.Gly606Arg)
c.-100G>C (n.-100G>C)
c.1300G>C (p.Gly434Arg)
c.580G>C (p.Gly194Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.77335799C>TCA396831944ADAMTS18c.1816G>A (p.Gly606Ser)
c.-100G>A (n.-100G>A)
c.1300G>A (p.Gly434Ser)
c.580G>A (p.Gly194Ser)
 gnomAD v4
16g.77335800A=CA2234406065ADAMTS18c.1815T= (p.Cys605=)
c.-101T= (n.-101T=)
c.1299T= (p.Cys433=)
c.579T= (p.Cys193=)
16g.77335800A>CCA396831946ADAMTS18c.1815T>G (p.Cys605Trp)
c.-101T>G (n.-101T>G)
c.1299T>G (p.Cys433Trp)
c.579T>G (p.Cys193Trp)
16g.77335800A>GCA8181154ADAMTS18c.1815T>C (p.Cys605=)
c.-101T>C (n.-101T>C)
c.1299T>C (p.Cys433=)
c.579T>C (p.Cys193=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335800A>TCA396831948ADAMTS18c.1815T>A (p.Cys605Ter)
c.-101T>A (n.-101T>A)
c.1299T>A (p.Cys433Ter)
c.579T>A (p.Cys193Ter)
16g.77335801C>ACA396831953ADAMTS18c.1814G>T (p.Cys605Phe)
c.-102G>T (n.-102G>T)
c.1298G>T (p.Cys433Phe)
c.578G>T (p.Cys193Phe)
16g.77335801C>GCA396831954ADAMTS18c.1814G>C (p.Cys605Ser)
c.-102G>C (n.-102G>C)
c.1298G>C (p.Cys433Ser)
c.578G>C (p.Cys193Ser)
16g.77335801C>TCA396831955ADAMTS18c.1814G>A (p.Cys605Tyr)
c.-102G>A (n.-102G>A)
c.1298G>A (p.Cys433Tyr)
c.578G>A (p.Cys193Tyr)
 gnomAD v4
16g.77335802A=CA2234406069ADAMTS18c.1813T= (p.Cys605=)
c.-103T= (n.-103T=)
c.1297T= (p.Cys433=)
c.577T= (p.Cys193=)
16g.77335802A>CCA396831960ADAMTS18c.1813T>G (p.Cys605Gly)
c.-103T>G (n.-103T>G)
c.1297T>G (p.Cys433Gly)
c.577T>G (p.Cys193Gly)
16g.77335802A>GCA8181155ADAMTS18c.1813T>C (p.Cys605Arg)
c.-103T>C (n.-103T>C)
c.1297T>C (p.Cys433Arg)
c.577T>C (p.Cys193Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335802A>TCA284408972ADAMTS18c.1813T>A (p.Cys605Ser)
c.-103T>A (n.-103T>A)
c.1297T>A (p.Cys433Ser)
c.577T>A (p.Cys193Ser)
 ClinVar dbSNP
16g.77335803T>ACA496590196ADAMTS18c.1812A>T (p.Thr604=)
c.-104A>T (n.-104A>T)
c.1296A>T (p.Thr432=)
c.576A>T (p.Thr192=)
16g.77335803T>CCA8181156ADAMTS18c.1812A>G (p.Thr604=)
c.-104A>G (n.-104A>G)
c.1296A>G (p.Thr432=)
c.576A>G (p.Thr192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335803T>GCA496590199ADAMTS18c.1812A>C (p.Thr604=)
c.-104A>C (n.-104A>C)
c.1296A>C (p.Thr432=)
c.576A>C (p.Thr192=)
16g.77335803T=CA2234406073ADAMTS18c.1812A= (p.Thr604=)
c.-104A= (n.-104A=)
c.1296A= (p.Thr432=)
c.576A= (p.Thr192=)
16g.77335804G>ACA396831965ADAMTS18c.1811C>T (p.Thr604Ile)
c.-105C>T (n.-105C>T)
c.1295C>T (p.Thr432Ile)
c.575C>T (p.Thr192Ile)
 gnomAD v4
16g.77335804G>CCA396831968ADAMTS18c.1811C>G (p.Thr604Arg)
c.-105C>G (n.-105C>G)
c.1295C>G (p.Thr432Arg)
c.575C>G (p.Thr192Arg)
16g.77335804G>TCA396831972ADAMTS18c.1811C>A (p.Thr604Lys)
c.-105C>A (n.-105C>A)
c.1295C>A (p.Thr432Lys)
c.575C>A (p.Thr192Lys)
16g.77335805T>ACA396831974ADAMTS18c.1810A>T (p.Thr604Ser)
c.-106A>T (n.-106A>T)
c.1294A>T (p.Thr432Ser)
c.574A>T (p.Thr192Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.77335805T>CCA396831977ADAMTS18c.1810A>G (p.Thr604Ala)
c.-106A>G (n.-106A>G)
c.1294A>G (p.Thr432Ala)
c.574A>G (p.Thr192Ala)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.77335805T>GCA396831978ADAMTS18c.1810A>C (p.Thr604Pro)
c.-106A>C (n.-106A>C)
c.1294A>C (p.Thr432Pro)
c.574A>C (p.Thr192Pro)
16g.77335805T=CA2234406076ADAMTS18c.1810A= (p.Thr604=)
c.-106A= (n.-106A=)
c.1294A= (p.Thr432=)
c.574A= (p.Thr192=)
16g.77335806C>ACA496590416ADAMTS18c.1809G>T (p.Arg603=)
c.-107G>T (n.-107G>T)
c.1293G>T (p.Arg431=)
c.573G>T (p.Arg191=)
 ClinVar dbSNP
16g.77335806C>GCA496590418ADAMTS18c.1809G>C (p.Arg603=)
c.-107G>C (n.-107G>C)
c.1293G>C (p.Arg431=)
c.573G>C (p.Arg191=)
16g.77335806C>TCA496590419ADAMTS18c.1809G>A (p.Arg603=)
c.-107G>A (n.-107G>A)
c.1293G>A (p.Arg431=)
c.573G>A (p.Arg191=)
16g.77335807C>ACA396831981ADAMTS18c.1808G>T (p.Arg603Leu)
c.-108G>T (n.-108G>T)
c.1292G>T (p.Arg431Leu)
c.572G>T (p.Arg191Leu)
 gnomAD v4 COSMIC
16g.77335807C=CA2234406083ADAMTS18c.1808G= (p.Arg603=)
c.-108G= (n.-108G=)
c.1292G= (p.Arg431=)
c.572G= (p.Arg191=)
16g.77335807C>GCA396831982ADAMTS18c.1808G>C (p.Arg603Pro)
c.-108G>C (n.-108G>C)
c.1292G>C (p.Arg431Pro)
c.572G>C (p.Arg191Pro)
16g.77335807C>TCA8181157ADAMTS18c.1808G>A (p.Arg603Gln)
c.-108G>A (n.-108G>A)
c.1292G>A (p.Arg431Gln)
c.572G>A (p.Arg191Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335808G>ACA8181158ADAMTS18c.1807C>T (p.Arg603Trp)
c.-109C>T (n.-109C>T)
c.1291C>T (p.Arg431Trp)
c.571C>T (p.Arg191Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335808G>CCA396831983ADAMTS18c.1807C>G (p.Arg603Gly)
c.-109C>G (n.-109C>G)
c.1291C>G (p.Arg431Gly)
c.571C>G (p.Arg191Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.77335808G=CA2234406087ADAMTS18c.1807C= (p.Arg603=)
c.-109C= (n.-109C=)
c.1291C= (p.Arg431=)
c.571C= (p.Arg191=)
16g.77335808G>TCA496590427ADAMTS18c.1807C>A (p.Arg603=)
c.-109C>A (n.-109C>A)
c.1291C>A (p.Arg431=)
c.571C>A (p.Arg191=)
16g.77335809G>ACA496590430ADAMTS18c.1806C>T (p.Ser602=)
c.-110C>T (n.-110C>T)
c.1290C>T (p.Ser430=)
c.570C>T (p.Ser190=)
16g.77335809G>CCA496590431ADAMTS18c.1806C>G (p.Ser602=)
c.-110C>G (n.-110C>G)
c.1290C>G (p.Ser430=)
c.570C>G (p.Ser190=)
 dbSNP gnomAD v4 COSMIC
16g.77335809G=CA2234406092ADAMTS18c.1806C= (p.Ser602=)
c.-110C= (n.-110C=)
c.1290C= (p.Ser430=)
c.570C= (p.Ser190=)
16g.77335809G>TCA496590433ADAMTS18c.1806C>A (p.Ser602=)
c.-110C>A (n.-110C>A)
c.1290C>A (p.Ser430=)
c.570C>A (p.Ser190=)
16g.77335810G>ACA396831987ADAMTS18c.1805C>T (p.Ser602Phe)
c.-111C>T (n.-111C>T)
c.1289C>T (p.Ser430Phe)
c.569C>T (p.Ser190Phe)
 COSMIC
16g.77335810G>CCA396831985ADAMTS18c.1805C>G (p.Ser602Cys)
c.-111C>G (n.-111C>G)
c.1289C>G (p.Ser430Cys)
c.569C>G (p.Ser190Cys)
16g.77335810G>TCA396831986ADAMTS18c.1805C>A (p.Ser602Tyr)
c.-111C>A (n.-111C>A)
c.1289C>A (p.Ser430Tyr)
c.569C>A (p.Ser190Tyr)
16g.77335811A>CCA396831989ADAMTS18c.1804T>G (p.Ser602Ala)
c.-112T>G (n.-112T>G)
c.1288T>G (p.Ser430Ala)
c.568T>G (p.Ser190Ala)
16g.77335811A>GCA396831994ADAMTS18c.1804T>C (p.Ser602Pro)
c.-112T>C (n.-112T>C)
c.1288T>C (p.Ser430Pro)
c.568T>C (p.Ser190Pro)
16g.77335811A>TCA396831992ADAMTS18c.1804T>A (p.Ser602Thr)
c.-112T>A (n.-112T>A)
c.1288T>A (p.Ser430Thr)
c.568T>A (p.Ser190Thr)
16g.77335812A=CA2234406095ADAMTS18c.1803T= (p.Cys601=)
c.-113T= (n.-113T=)
c.1287T= (p.Cys429=)
c.567T= (p.Cys189=)
16g.77335812A>CCA396831996ADAMTS18c.1803T>G (p.Cys601Trp)
c.-113T>G (n.-113T>G)
c.1287T>G (p.Cys429Trp)
c.567T>G (p.Cys189Trp)
16g.77335812A>GCA496590443ADAMTS18c.1803T>C (p.Cys601=)
c.-113T>C (n.-113T>C)
c.1287T>C (p.Cys429=)
c.567T>C (p.Cys189=)
 dbSNP gnomAD v2 gnomAD v4
16g.77335812A>TCA396831998ADAMTS18c.1803T>A (p.Cys601Ter)
c.-113T>A (n.-113T>A)
c.1287T>A (p.Cys429Ter)
c.567T>A (p.Cys189Ter)
16g.77335813C>ACA396832000ADAMTS18c.1802G>T (p.Cys601Phe)
c.-114G>T (n.-114G>T)
c.1286G>T (p.Cys429Phe)
c.566G>T (p.Cys189Phe)
 COSMIC
16g.77335813C>GCA396832003ADAMTS18c.1802G>C (p.Cys601Ser)
c.-114G>C (n.-114G>C)
c.1286G>C (p.Cys429Ser)
c.566G>C (p.Cys189Ser)
16g.77335813C>TCA396832005ADAMTS18c.1802G>A (p.Cys601Tyr)
c.-114G>A (n.-114G>A)
c.1286G>A (p.Cys429Tyr)
c.566G>A (p.Cys189Tyr)
16g.77335814A>CCA396832007ADAMTS18c.1801T>G (p.Cys601Gly)
c.-115T>G (n.-115T>G)
c.1285T>G (p.Cys429Gly)
c.565T>G (p.Cys189Gly)
16g.77335814A>GCA396832010ADAMTS18c.1801T>C (p.Cys601Arg)
c.-115T>C (n.-115T>C)
c.1285T>C (p.Cys429Arg)
c.565T>C (p.Cys189Arg)
 ClinVar
16g.77335814A>TCA396832014ADAMTS18c.1801T>A (p.Cys601Ser)
c.-115T>A (n.-115T>A)
c.1285T>A (p.Cys429Ser)
c.565T>A (p.Cys189Ser)
16g.77335815T>ACA396832016ADAMTS18c.1800A>T (p.Glu600Asp)
c.-116A>T (n.-116A>T)
c.1284A>T (p.Glu428Asp)
c.564A>T (p.Glu188Asp)
16g.77335815T>CCA496590456ADAMTS18c.1800A>G (p.Glu600=)
c.-116A>G (n.-116A>G)
c.1284A>G (p.Glu428=)
c.564A>G (p.Glu188=)
16g.77335815T>GCA396832018ADAMTS18c.1800A>C (p.Glu600Asp)
c.-116A>C (n.-116A>C)
c.1284A>C (p.Glu428Asp)
c.564A>C (p.Glu188Asp)
16g.77335816T>ACA396832026ADAMTS18c.1799A>T (p.Glu600Val)
c.-117A>T (n.-117A>T)
c.1283A>T (p.Glu428Val)
c.563A>T (p.Glu188Val)
16g.77335816T>CCA396832028ADAMTS18c.1799A>G (p.Glu600Gly)
c.-117A>G (n.-117A>G)
c.1283A>G (p.Glu428Gly)
c.563A>G (p.Glu188Gly)
16g.77335816T>GCA396832030ADAMTS18c.1799A>C (p.Glu600Ala)
c.-117A>C (n.-117A>C)
c.1283A>C (p.Glu428Ala)
c.563A>C (p.Glu188Ala)
16g.77335817C>ACA8181159ADAMTS18c.1798G>T (p.Glu600Ter)
c.-118G>T (n.-118G>T)
c.1282G>T (p.Glu428Ter)
c.562G>T (p.Glu188Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335817C=CA2234406102ADAMTS18c.1798G= (p.Glu600=)
c.-118G= (n.-118G=)
c.1282G= (p.Glu428=)
c.562G= (p.Glu188=)
16g.77335817C>GCA396832032ADAMTS18c.1798G>C (p.Glu600Gln)
c.-118G>C (n.-118G>C)
c.1282G>C (p.Glu428Gln)
c.562G>C (p.Glu188Gln)
 gnomAD v4
16g.77335817C>TCA396832031ADAMTS18c.1798G>A (p.Glu600Lys)
c.-118G>A (n.-118G>A)
c.1282G>A (p.Glu428Lys)
c.562G>A (p.Glu188Lys)
 gnomAD v4
16g.77335818T>ACA496590464ADAMTS18c.1797A>T (p.Ser599=)
c.-119A>T (n.-119A>T)
c.1281A>T (p.Ser427=)
c.561A>T (p.Ser187=)
16g.77335818T>CCA496590468ADAMTS18c.1797A>G (p.Ser599=)
c.-119A>G (n.-119A>G)
c.1281A>G (p.Ser427=)
c.561A>G (p.Ser187=)
 gnomAD v4
16g.77335818T>GCA496590466ADAMTS18c.1797A>C (p.Ser599=)
c.-119A>C (n.-119A>C)
c.1281A>C (p.Ser427=)
c.561A>C (p.Ser187=)
 gnomAD v4
16g.77335819G>ACA396832036ADAMTS18c.1796C>T (p.Ser599Leu)
c.-120C>T (n.-120C>T)
c.1280C>T (p.Ser427Leu)
c.560C>T (p.Ser187Leu)
16g.77335819G>CCA396832037ADAMTS18c.1796C>G (p.Ser599Ter)
c.-120C>G (n.-120C>G)
c.1280C>G (p.Ser427Ter)
c.560C>G (p.Ser187Ter)
16g.77335819G>TCA396832038ADAMTS18c.1796C>A (p.Ser599Ter)
c.-120C>A (n.-120C>A)
c.1280C>A (p.Ser427Ter)
c.560C>A (p.Ser187Ter)
16g.77335824_77335832delCA2634396342ADAMTS18c.1788_1796del (p.Lys597_Ser599del)
c.-128_-120del (n.-128_-120del)
c.1272_1280del (p.Lys425_Ser427del)
c.552_560del (p.Lys185_Ser187del)
 gnomAD v4
16g.77335820A>CCA396832041ADAMTS18c.1795T>G (p.Ser599Ala)
c.-121T>G (n.-121T>G)
c.1279T>G (p.Ser427Ala)
c.559T>G (p.Ser187Ala)
16g.77335820A>GCA396832043ADAMTS18c.1795T>C (p.Ser599Pro)
c.-121T>C (n.-121T>C)
c.1279T>C (p.Ser427Pro)
c.559T>C (p.Ser187Pro)
16g.77335820A>TCA396832047ADAMTS18c.1795T>A (p.Ser599Thr)
c.-121T>A (n.-121T>A)
c.1279T>A (p.Ser427Thr)
c.559T>A (p.Ser187Thr)
16g.77335821C>ACA396832049ADAMTS18c.1794G>T (p.Trp598Cys)
c.-122G>T (n.-122G>T)
c.1278G>T (p.Trp426Cys)
c.558G>T (p.Trp186Cys)
16g.77335821C=CA2234406109ADAMTS18c.1794G= (p.Trp598=)
c.-122G= (n.-122G=)
c.1278G= (p.Trp426=)
c.558G= (p.Trp186=)
16g.77335821C>GCA284409002ADAMTS18c.1794G>C (p.Trp598Cys)
c.-122G>C (n.-122G>C)
c.1278G>C (p.Trp426Cys)
c.558G>C (p.Trp186Cys)
 ClinVar dbSNP gnomAD v4
16g.77335821C>TCA396832054ADAMTS18c.1794G>A (p.Trp598Ter)
c.-122G>A (n.-122G>A)
c.1278G>A (p.Trp426Ter)
c.558G>A (p.Trp186Ter)
 dbSNP
16g.77335822C>ACA396832057ADAMTS18c.1793G>T (p.Trp598Leu)
c.-123G>T (n.-123G>T)
c.1277G>T (p.Trp426Leu)
c.557G>T (p.Trp186Leu)
16g.77335822C>GCA396832061ADAMTS18c.1793G>C (p.Trp598Ser)
c.-123G>C (n.-123G>C)
c.1277G>C (p.Trp426Ser)
c.557G>C (p.Trp186Ser)
16g.77335822C>TCA396832064ADAMTS18c.1793G>A (p.Trp598Ter)
c.-123G>A (n.-123G>A)
c.1277G>A (p.Trp426Ter)
c.557G>A (p.Trp186Ter)
16g.77335823A>CCA396832069ADAMTS18c.1792T>G (p.Trp598Gly)
c.-124T>G (n.-124T>G)
c.1276T>G (p.Trp426Gly)
c.556T>G (p.Trp186Gly)
 gnomAD v4
16g.77335823A>GCA396832067ADAMTS18c.1792T>C (p.Trp598Arg)
c.-124T>C (n.-124T>C)
c.1276T>C (p.Trp426Arg)
c.556T>C (p.Trp186Arg)
16g.77335823A>TCA396832066ADAMTS18c.1792T>A (p.Trp598Arg)
c.-124T>A (n.-124T>A)
c.1276T>A (p.Trp426Arg)
c.556T>A (p.Trp186Arg)
16g.77335824C>ACA396832072ADAMTS18c.1791G>T (p.Lys597Asn)
c.-125G>T (n.-125G>T)
c.1275G>T (p.Lys425Asn)
c.555G>T (p.Lys185Asn)
16g.77335824C>GCA396832073ADAMTS18c.1791G>C (p.Lys597Asn)
c.-125G>C (n.-125G>C)
c.1275G>C (p.Lys425Asn)
c.555G>C (p.Lys185Asn)
16g.77335824C>TCA496590489ADAMTS18c.1791G>A (p.Lys597=)
c.-125G>A (n.-125G>A)
c.1275G>A (p.Lys425=)
c.555G>A (p.Lys185=)
16g.77335825T>ACA396832077ADAMTS18c.1790A>T (p.Lys597Met)
c.-126A>T (n.-126A>T)
c.1274A>T (p.Lys425Met)
c.554A>T (p.Lys185Met)
 gnomAD v4
16g.77335825T>CCA396832079ADAMTS18c.1790A>G (p.Lys597Arg)
c.-126A>G (n.-126A>G)
c.1274A>G (p.Lys425Arg)
c.554A>G (p.Lys185Arg)
 COSMIC
16g.77335825T>GCA396832080ADAMTS18c.1790A>C (p.Lys597Thr)
c.-126A>C (n.-126A>C)
c.1274A>C (p.Lys425Thr)
c.554A>C (p.Lys185Thr)
 dbSNP
16g.77335826T>ACA396832083ADAMTS18c.1789A>T (p.Lys597Ter)
c.-127A>T (n.-127A>T)
c.1273A>T (p.Lys425Ter)
c.553A>T (p.Lys185Ter)
16g.77335826T>CCA396832084ADAMTS18c.1789A>G (p.Lys597Glu)
c.-127A>G (n.-127A>G)
c.1273A>G (p.Lys425Glu)
c.553A>G (p.Lys185Glu)
16g.77335826T>GCA396832085ADAMTS18c.1789A>C (p.Lys597Gln)
c.-127A>C (n.-127A>C)
c.1273A>C (p.Lys425Gln)
c.553A>C (p.Lys185Gln)
16g.77335827C>ACA496590497ADAMTS18c.1788G>T (p.Ser596=)
c.-128G>T (n.-128G>T)
c.1272G>T (p.Ser424=)
c.552G>T (p.Ser184=)
 gnomAD v4
16g.77335827C=CA2234406111ADAMTS18c.1788G= (p.Ser596=)
c.-128G= (n.-128G=)
c.1272G= (p.Ser424=)
c.552G= (p.Ser184=)
16g.77335827C>GCA496590498ADAMTS18c.1788G>C (p.Ser596=)
c.-128G>C (n.-128G>C)
c.1272G>C (p.Ser424=)
c.552G>C (p.Ser184=)
16g.77335827C>TCA8181160ADAMTS18c.1788G>A (p.Ser596=)
c.-128G>A (n.-128G>A)
c.1272G>A (p.Ser424=)
c.552G>A (p.Ser184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.77335828G>ACA8181161ADAMTS18c.1787C>T (p.Ser596Leu)
c.-129C>T (n.-129C>T)
c.1271C>T (p.Ser424Leu)
c.551C>T (p.Ser184Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335828G>CCA396832088ADAMTS18c.1787C>G (p.Ser596Trp)
c.-129C>G (n.-129C>G)
c.1271C>G (p.Ser424Trp)
c.551C>G (p.Ser184Trp)
 gnomAD v4
16g.77335828G=CA2234406114ADAMTS18c.1787C= (p.Ser596=)
c.-129C= (n.-129C=)
c.1271C= (p.Ser424=)
c.551C= (p.Ser184=)
16g.77335828G>TCA396832089ADAMTS18c.1787C>A (p.Ser596Ter)
c.-129C>A (n.-129C>A)
c.1271C>A (p.Ser424Ter)
c.551C>A (p.Ser184Ter)
16g.77335829A>CCA396832095ADAMTS18c.1786T>G (p.Ser596Ala)
c.-130T>G (n.-130T>G)
c.1270T>G (p.Ser424Ala)
c.550T>G (p.Ser184Ala)
16g.77335829A>GCA396832091ADAMTS18c.1786T>C (p.Ser596Pro)
c.-130T>C (n.-130T>C)
c.1270T>C (p.Ser424Pro)
c.550T>C (p.Ser184Pro)
16g.77335829A>TCA396832093ADAMTS18c.1786T>A (p.Ser596Thr)
c.-130T>A (n.-130T>A)
c.1270T>A (p.Ser424Thr)
c.550T>A (p.Ser184Thr)
16g.77335830C>ACA396832097ADAMTS18c.1785G>T (p.Trp595Cys)
c.-131G>T (n.-131G>T)
c.1269G>T (p.Trp423Cys)
c.549G>T (p.Trp183Cys)
16g.77335830C>GCA396832099ADAMTS18c.1785G>C (p.Trp595Cys)
c.-131G>C (n.-131G>C)
c.1269G>C (p.Trp423Cys)
c.549G>C (p.Trp183Cys)
16g.77335830C>TCA396832102ADAMTS18c.1785G>A (p.Trp595Ter)
c.-131G>A (n.-131G>A)
c.1269G>A (p.Trp423Ter)
c.549G>A (p.Trp183Ter)
16g.77335831C>ACA396832110ADAMTS18c.1784G>T (p.Trp595Leu)
c.-132G>T (n.-132G>T)
c.1268G>T (p.Trp423Leu)
c.548G>T (p.Trp183Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.77335831C=CA2234406118ADAMTS18c.1784G= (p.Trp595=)
c.-132G= (n.-132G=)
c.1268G= (p.Trp423=)
c.548G= (p.Trp183=)
16g.77335831C>GCA396832111ADAMTS18c.1784G>C (p.Trp595Ser)
c.-132G>C (n.-132G>C)
c.1268G>C (p.Trp423Ser)
c.548G>C (p.Trp183Ser)
16g.77335831C>TCA396832112ADAMTS18c.1784G>A (p.Trp595Ter)
c.-132G>A (n.-132G>A)
c.1268G>A (p.Trp423Ter)
c.548G>A (p.Trp183Ter)
16g.77335832A=CA2234406123ADAMTS18c.1783T= (p.Trp595=)
c.-133T= (n.-133T=)
c.1267T= (p.Trp423=)
c.547T= (p.Trp183=)
16g.77335832A>CCA8181162ADAMTS18c.1783T>G (p.Trp595Gly)
c.-133T>G (n.-133T>G)
c.1267T>G (p.Trp423Gly)
c.547T>G (p.Trp183Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335832A>GCA396832117ADAMTS18c.1783T>C (p.Trp595Arg)
c.-133T>C (n.-133T>C)
c.1267T>C (p.Trp423Arg)
c.547T>C (p.Trp183Arg)
16g.77335832A>TCA396832120ADAMTS18c.1783T>A (p.Trp595Arg)
c.-133T>A (n.-133T>A)
c.1267T>A (p.Trp423Arg)
c.547T>A (p.Trp183Arg)
16g.77335833G>ACA496590522ADAMTS18c.1782C>T (p.Ala594=)
c.-134C>T (n.-134C>T)
c.1266C>T (p.Ala422=)
c.546C>T (p.Ala182=)
 ClinVar dbSNP
16g.77335833G>CCA496590524ADAMTS18c.1782C>G (p.Ala594=)
c.-134C>G (n.-134C>G)
c.1266C>G (p.Ala422=)
c.546C>G (p.Ala182=)
16g.77335833G>TCA496590520ADAMTS18c.1782C>A (p.Ala594=)
c.-134C>A (n.-134C>A)
c.1266C>A (p.Ala422=)
c.546C>A (p.Ala182=)
16g.77335834G>ACA396832127ADAMTS18c.1781C>T (p.Ala594Val)
c.-135C>T (n.-135C>T)
c.1265C>T (p.Ala422Val)
c.545C>T (p.Ala182Val)
16g.77335834G>CCA396832129ADAMTS18c.1781C>G (p.Ala594Gly)
c.-135C>G (n.-135C>G)
c.1265C>G (p.Ala422Gly)
c.545C>G (p.Ala182Gly)
16g.77335834G>TCA396832131ADAMTS18c.1781C>A (p.Ala594Asp)
c.-135C>A (n.-135C>A)
c.1265C>A (p.Ala422Asp)
c.545C>A (p.Ala182Asp)
16g.77335835C>ACA396832136ADAMTS18c.1780G>T (p.Ala594Ser)
c.-136G>T (n.-136G>T)
c.1264G>T (p.Ala422Ser)
c.544G>T (p.Ala182Ser)
16g.77335835C=CA2234406130ADAMTS18c.1780G= (p.Ala594=)
c.-136G= (n.-136G=)
c.1264G= (p.Ala422=)
c.544G= (p.Ala182=)
16g.77335835C>GCA8181164ADAMTS18c.1780G>C (p.Ala594Pro)
c.-136G>C (n.-136G>C)
c.1264G>C (p.Ala422Pro)
c.544G>C (p.Ala182Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335835C>TCA8181163ADAMTS18c.1780G>A (p.Ala594Thr)
c.-136G>A (n.-136G>A)
c.1264G>A (p.Ala422Thr)
c.544G>A (p.Ala182Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335836G>ACA284409042ADAMTS18c.1779C>T (p.Ser593=)
c.-137C>T (n.-137C>T)
c.1263C>T (p.Ser421=)
c.543C>T (p.Ser181=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.77335836G>CCA496590535ADAMTS18c.1779C>G (p.Ser593=)
c.-137C>G (n.-137C>G)
c.1263C>G (p.Ser421=)
c.543C>G (p.Ser181=)
16g.77335836G=CA2234406133ADAMTS18c.1779C= (p.Ser593=)
c.-137C= (n.-137C=)
c.1263C= (p.Ser421=)
c.543C= (p.Ser181=)
16g.77335836G>TCA496590538ADAMTS18c.1779C>A (p.Ser593=)
c.-137C>A (n.-137C>A)
c.1263C>A (p.Ser421=)
c.543C>A (p.Ser181=)
 COSMIC
16g.77335837G>ACA396832139ADAMTS18c.1778C>T (p.Ser593Phe)
c.-138C>T (n.-138C>T)
c.1262C>T (p.Ser421Phe)
c.542C>T (p.Ser181Phe)
16g.77335837G>CCA396832141ADAMTS18c.1778C>G (p.Ser593Cys)
c.-138C>G (n.-138C>G)
c.1262C>G (p.Ser421Cys)
c.542C>G (p.Ser181Cys)
16g.77335837G>TCA396832142ADAMTS18c.1778C>A (p.Ser593Tyr)
c.-138C>A (n.-138C>A)
c.1262C>A (p.Ser421Tyr)
c.542C>A (p.Ser181Tyr)
 ClinVar dbSNP
16g.77335838A>CCA396832150ADAMTS18c.1777T>G (p.Ser593Ala)
c.-139T>G (n.-139T>G)
c.1261T>G (p.Ser421Ala)
c.541T>G (p.Ser181Ala)
16g.77335838A>GCA396832151ADAMTS18c.1777T>C (p.Ser593Pro)
c.-139T>C (n.-139T>C)
c.1261T>C (p.Ser421Pro)
c.541T>C (p.Ser181Pro)
16g.77335838A>TCA396832152ADAMTS18c.1777T>A (p.Ser593Thr)
c.-139T>A (n.-139T>A)
c.1261T>A (p.Ser421Thr)
c.541T>A (p.Ser181Thr)
16g.77335839C>ACA396832155ADAMTS18c.1776G>T (p.Trp592Cys)
c.1260G>T (p.Trp420Cys)
c.540G>T (p.Trp180Cys)
16g.77335839C>GCA396832154ADAMTS18c.1776G>C (p.Trp592Cys)
c.1260G>C (p.Trp420Cys)
c.540G>C (p.Trp180Cys)
16g.77335839C>TCA396832153ADAMTS18c.1776G>A (p.Trp592Ter)
c.1260G>A (p.Trp420Ter)
c.540G>A (p.Trp180Ter)
16g.77335840C>ACA396832158ADAMTS18c.1775G>T (p.Trp592Leu)
c.1259G>T (p.Trp420Leu)
c.539G>T (p.Trp180Leu)
 gnomAD v4
16g.77335840C>GCA396832160ADAMTS18c.1775G>C (p.Trp592Ser)
c.1259G>C (p.Trp420Ser)
c.539G>C (p.Trp180Ser)
16g.77335840C>TCA396832166ADAMTS18c.1775G>A (p.Trp592Ter)
c.1259G>A (p.Trp420Ter)
c.539G>A (p.Trp180Ter)
 dbSNP
16g.77335841A=CA2234406144ADAMTS18c.1774T= (p.Trp592=)
c.1258T= (p.Trp420=)
c.538T= (p.Trp180=)
16g.77335841A>CCA396832167ADAMTS18c.1774T>G (p.Trp592Gly)
c.1258T>G (p.Trp420Gly)
c.538T>G (p.Trp180Gly)
16g.77335841A>GCA396832168ADAMTS18c.1774T>C (p.Trp592Arg)
c.1258T>C (p.Trp420Arg)
c.538T>C (p.Trp180Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.77335841A>TCA396832169ADAMTS18c.1774T>A (p.Trp592Arg)
c.1258T>A (p.Trp420Arg)
c.538T>A (p.Trp180Arg)
16g.77335842C>ACA396832172ADAMTS18c.1773G>T (p.Gln591His)
c.1257G>T (p.Gln419His)
c.537G>T (p.Gln179His)
16g.77335842C=CA2234406151ADAMTS18c.1773G= (p.Gln591=)
c.1257G= (p.Gln419=)
c.537G= (p.Gln179=)
16g.77335842C>GCA8181165ADAMTS18c.1773G>C (p.Gln591His)
c.1257G>C (p.Gln419His)
c.537G>C (p.Gln179His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335842C>TCA8181166ADAMTS18c.1773G>A (p.Gln591=)
c.1257G>A (p.Gln419=)
c.537G>A (p.Gln179=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335843T>ACA396832180ADAMTS18c.1772A>T (p.Gln591Leu)
c.1256A>T (p.Gln419Leu)
c.536A>T (p.Gln179Leu)
16g.77335843T>CCA396832181ADAMTS18c.1772A>G (p.Gln591Arg)
c.1256A>G (p.Gln419Arg)
c.536A>G (p.Gln179Arg)
 dbSNP gnomAD v4
16g.77335843T>GCA396832183ADAMTS18c.1772A>C (p.Gln591Pro)
c.1256A>C (p.Gln419Pro)
c.536A>C (p.Gln179Pro)
16g.77335844G>ACA396832187ADAMTS18c.1771C>T (p.Gln591Ter)
c.1255C>T (p.Gln419Ter)
c.535C>T (p.Gln179Ter)
16g.77335844G>CCA396832190ADAMTS18c.1771C>G (p.Gln591Glu)
c.1255C>G (p.Gln419Glu)
c.535C>G (p.Gln179Glu)
16g.77335844G>TCA396832195ADAMTS18c.1771C>A (p.Gln591Lys)
c.1255C>A (p.Gln419Lys)
c.535C>A (p.Gln179Lys)
 ClinVar
16g.77335858_77335859insAGTGGATGGGCCGTGGATGGGCCCA2634396343ADAMTS18c.1771_1772insCATCCACTGGCCCATCCACGGCC (p.Gln591ProfsTer?)
c.1255_1256insCATCCACTGGCCCATCCACGGCC (p.Gln419ProfsTer?)
c.535_536insCATCCACTGGCCCATCCACGGCC (p.Gln179ProfsTer?)
 gnomAD v4
16g.77335845G>ACA496590569ADAMTS18c.1770C>T (p.Gly590=)
c.1254C>T (p.Gly418=)
c.534C>T (p.Gly178=)
16g.77335845G>CCA496590571ADAMTS18c.1770C>G (p.Gly590=)
c.1254C>G (p.Gly418=)
c.534C>G (p.Gly178=)
16g.77335845G>TCA496590572ADAMTS18c.1770C>A (p.Gly590=)
c.1254C>A (p.Gly418=)
c.534C>A (p.Gly178=)
16g.77335846C>ACA396832198ADAMTS18c.1769G>T (p.Gly590Val)
c.1253G>T (p.Gly418Val)
c.533G>T (p.Gly178Val)
 gnomAD v4
16g.77335846C>GCA396832200ADAMTS18c.1769G>C (p.Gly590Ala)
c.1253G>C (p.Gly418Ala)
c.533G>C (p.Gly178Ala)
16g.77335846C>TCA396832204ADAMTS18c.1769G>A (p.Gly590Asp)
c.1253G>A (p.Gly418Asp)
c.533G>A (p.Gly178Asp)
16g.77335847C>ACA396832207ADAMTS18c.1768G>T (p.Gly590Cys)
c.1252G>T (p.Gly418Cys)
c.532G>T (p.Gly178Cys)
 dbSNP gnomAD v3 gnomAD v4
16g.77335847C=CA2234406159ADAMTS18c.1768G= (p.Gly590=)
c.1252G= (p.Gly418=)
c.532G= (p.Gly178=)
16g.77335847C>GCA396832210ADAMTS18c.1768G>C (p.Gly590Arg)
c.1252G>C (p.Gly418Arg)
c.532G>C (p.Gly178Arg)
 dbSNP gnomAD v4
16g.77335847C>TCA396832212ADAMTS18c.1768G>A (p.Gly590Ser)
c.1252G>A (p.Gly418Ser)
c.532G>A (p.Gly178Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.77335848G>ACA8181167ADAMTS18c.1767C>T (p.His589=)
c.1251C>T (p.His417=)
c.531C>T (p.His177=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335848G>CCA396832220ADAMTS18c.1767C>G (p.His589Gln)
c.1251C>G (p.His417Gln)
c.531C>G (p.His177Gln)
16g.77335848G=CA2234406162ADAMTS18c.1767C= (p.His589=)
c.1251C= (p.His417=)
c.531C= (p.His177=)
16g.77335848G>TCA396832218ADAMTS18c.1767C>A (p.His589Gln)
c.1251C>A (p.His417Gln)
c.531C>A (p.His177Gln)
16g.77335849T>ACA396832223ADAMTS18c.1766A>T (p.His589Leu)
c.1250A>T (p.His417Leu)
c.530A>T (p.His177Leu)
16g.77335849T>CCA396832225ADAMTS18c.1766A>G (p.His589Arg)
c.1250A>G (p.His417Arg)
c.530A>G (p.His177Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.77335849T>GCA396832229ADAMTS18c.1766A>C (p.His589Pro)
c.1250A>C (p.His417Pro)
c.530A>C (p.His177Pro)
16g.77335849T=CA2234406165ADAMTS18c.1766A= (p.His589=)
c.1250A= (p.His417=)
c.530A= (p.His177=)
16g.77335850G>ACA396832232ADAMTS18c.1765C>T (p.His589Tyr)
c.1249C>T (p.His417Tyr)
c.529C>T (p.His177Tyr)
16g.77335850G>CCA396832235ADAMTS18c.1765C>G (p.His589Asp)
c.1249C>G (p.His417Asp)
c.529C>G (p.His177Asp)
16g.77335850G>TCA396832237ADAMTS18c.1765C>A (p.His589Asn)
c.1249C>A (p.His417Asn)
c.529C>A (p.His177Asn)
16g.77335851G>ACA496590592ADAMTS18c.1764C>T (p.Ile588=)
c.1248C>T (p.Ile416=)
c.528C>T (p.Ile176=)
16g.77335851G>CCA396832239ADAMTS18c.1764C>G (p.Ile588Met)
c.1248C>G (p.Ile416Met)
c.528C>G (p.Ile176Met)
 gnomAD v4
16g.77335851G=CA2234406167ADAMTS18c.1764C= (p.Ile588=)
c.1248C= (p.Ile416=)
c.528C= (p.Ile176=)
16g.77335851G>TCA496590595ADAMTS18c.1764C>A (p.Ile588=)
c.1248C>A (p.Ile416=)
c.528C>A (p.Ile176=)
 dbSNP gnomAD v2 gnomAD v4
16g.77335852A>CCA396832240ADAMTS18c.1763T>G (p.Ile588Ser)
c.1247T>G (p.Ile416Ser)
c.527T>G (p.Ile176Ser)
16g.77335852A>GCA396832241ADAMTS18c.1763T>C (p.Ile588Thr)
c.1247T>C (p.Ile416Thr)
c.527T>C (p.Ile176Thr)
16g.77335852A>TCA396832243ADAMTS18c.1763T>A (p.Ile588Asn)
c.1247T>A (p.Ile416Asn)
c.527T>A (p.Ile176Asn)
16g.77335853T>ACA396832246ADAMTS18c.1762A>T (p.Ile588Phe)
c.1246A>T (p.Ile416Phe)
c.526A>T (p.Ile176Phe)
16g.77335853T>CCA396832247ADAMTS18c.1762A>G (p.Ile588Val)
c.1246A>G (p.Ile416Val)
c.526A>G (p.Ile176Val)
 gnomAD v4
16g.77335853T>GCA396832248ADAMTS18c.1762A>C (p.Ile588Leu)
c.1246A>C (p.Ile416Leu)
c.526A>C (p.Ile176Leu)
16g.77335854G>ACA496590604ADAMTS18c.1761C>T (p.Pro587=)
c.1245C>T (p.Pro415=)
c.525C>T (p.Pro175=)
 gnomAD v4 COSMIC
16g.77335854G>CCA496590606ADAMTS18c.1761C>G (p.Pro587=)
c.1245C>G (p.Pro415=)
c.525C>G (p.Pro175=)
16g.77335854G>TCA496590608ADAMTS18c.1761C>A (p.Pro587=)
c.1245C>A (p.Pro415=)
c.525C>A (p.Pro175=)
 COSMIC
16g.77335855G>ACA396832249ADAMTS18c.1760C>T (p.Pro587Leu)
c.1244C>T (p.Pro415Leu)
c.524C>T (p.Pro175Leu)
 gnomAD v4
16g.77335855G>CCA396832255ADAMTS18c.1760C>G (p.Pro587Arg)
c.1244C>G (p.Pro415Arg)
c.524C>G (p.Pro175Arg)
16g.77335855G>TCA396832251ADAMTS18c.1760C>A (p.Pro587His)
c.1244C>A (p.Pro415His)
c.524C>A (p.Pro175His)
 gnomAD v4
16g.77335856G>ACA396832259ADAMTS18c.1759C>T (p.Pro587Ser)
c.1243C>T (p.Pro415Ser)
c.523C>T (p.Pro175Ser)
16g.77335856G>CCA396832262ADAMTS18c.1759C>G (p.Pro587Ala)
c.1243C>G (p.Pro415Ala)
c.523C>G (p.Pro175Ala)
16g.77335856G>TCA396832264ADAMTS18c.1759C>A (p.Pro587Thr)
c.1243C>A (p.Pro415Thr)
c.523C>A (p.Pro175Thr)
16g.77335857C>ACA496590618ADAMTS18c.1758G>T (p.Arg586=)
c.1242G>T (p.Arg414=)
c.522G>T (p.Arg174=)
16g.77335857C>GCA496590619ADAMTS18c.1758G>C (p.Arg586=)
c.1242G>C (p.Arg414=)
c.522G>C (p.Arg174=)
16g.77335857C>TCA496590621ADAMTS18c.1758G>A (p.Arg586=)
c.1242G>A (p.Arg414=)
c.522G>A (p.Arg174=)
 ClinVar dbSNP
16g.77335858C>ACA8181169ADAMTS18c.1757G>T (p.Arg586Leu)
c.1241G>T (p.Arg414Leu)
c.521G>T (p.Arg174Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335858C=CA2234406168ADAMTS18c.1757G= (p.Arg586=)
c.1241G= (p.Arg414=)
c.521G= (p.Arg174=)
16g.77335858C>GCA396832272ADAMTS18c.1757G>C (p.Arg586Pro)
c.1241G>C (p.Arg414Pro)
c.521G>C (p.Arg174Pro)
16g.77335858C>TCA8181168ADAMTS18c.1757G>A (p.Arg586Gln)
c.1241G>A (p.Arg414Gln)
c.521G>A (p.Arg174Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335859G>ACA8181170ADAMTS18c.1756C>T (p.Arg586Trp)
c.1240C>T (p.Arg414Trp)
c.520C>T (p.Arg174Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.77335859G>CCA396832275ADAMTS18c.1756C>G (p.Arg586Gly)
c.1240C>G (p.Arg414Gly)
c.520C>G (p.Arg174Gly)
16g.77335859G=CA2234406173ADAMTS18c.1756C= (p.Arg586=)
c.1240C= (p.Arg414=)
c.520C= (p.Arg174=)
16g.77335859G>TCA496590627ADAMTS18c.1756C>A (p.Arg586=)
c.1240C>A (p.Arg414=)
c.520C>A (p.Arg174=)
 dbSNP gnomAD v2 gnomAD v4
16g.77335860G>ACA496590631ADAMTS18c.1755C>T (p.Pro585=)
c.1239C>T (p.Pro413=)
c.519C>T (p.Pro173=)
16g.77335860G>CCA496590632ADAMTS18c.1755C>G (p.Pro585=)
c.1239C>G (p.Pro413=)
c.519C>G (p.Pro173=)
 gnomAD v4
16g.77335860G>TCA496590634ADAMTS18c.1755C>A (p.Pro585=)
c.1239C>A (p.Pro413=)
c.519C>A (p.Pro173=)
16g.77335861G>ACA396832278ADAMTS18c.1754C>T (p.Pro585Leu)
c.1238C>T (p.Pro413Leu)
c.518C>T (p.Pro173Leu)
 gnomAD v4
16g.77335861G>CCA396832280ADAMTS18c.1754C>G (p.Pro585Arg)
c.1238C>G (p.Pro413Arg)
c.518C>G (p.Pro173Arg)
16g.77335861G>TCA396832284ADAMTS18c.1754C>A (p.Pro585His)
c.1238C>A (p.Pro413His)
c.518C>A (p.Pro173His)
16g.77335862G>ACA8181171ADAMTS18c.1753C>T (p.Pro585Ser)
c.1237C>T (p.Pro413Ser)
c.517C>T (p.Pro173Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335862G>CCA396832290ADAMTS18c.1753C>G (p.Pro585Ala)
c.1237C>G (p.Pro413Ala)
c.517C>G (p.Pro173Ala)
16g.77335862G=CA2234406175ADAMTS18c.1753C= (p.Pro585=)
c.1237C= (p.Pro413=)
c.517C= (p.Pro173=)
16g.77335862G>TCA284409547ADAMTS18c.1753C>A (p.Pro585Thr)
c.1237C>A (p.Pro413Thr)
c.517C>A (p.Pro173Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.77335863C>ACA496590644ADAMTS18c.1752G>T (p.Gly584=)
c.1236G>T (p.Gly412=)
c.516G>T (p.Gly172=)
16g.77335863C>GCA496590646ADAMTS18c.1752G>C (p.Gly584=)
c.1236G>C (p.Gly412=)
c.516G>C (p.Gly172=)
16g.77335863C>TCA496590648ADAMTS18c.1752G>A (p.Gly584=)
c.1236G>A (p.Gly412=)
c.516G>A (p.Gly172=)
16g.77335864C>ACA396832294ADAMTS18c.1751G>T (p.Gly584Val)
c.1235G>T (p.Gly412Val)
c.515G>T (p.Gly172Val)
16g.77335864C>GCA396832300ADAMTS18c.1751G>C (p.Gly584Ala)
c.1235G>C (p.Gly412Ala)
c.515G>C (p.Gly172Ala)
16g.77335864C>TCA396832297ADAMTS18c.1751G>A (p.Gly584Glu)
c.1235G>A (p.Gly412Glu)
c.515G>A (p.Gly172Glu)
16g.77335865C>ACA396832304ADAMTS18c.1750G>T (p.Gly584Trp)
c.1234G>T (p.Gly412Trp)
c.514G>T (p.Gly172Trp)
16g.77335865C=CA2234406177ADAMTS18c.1750G= (p.Gly584=)
c.1234G= (p.Gly412=)
c.514G= (p.Gly172=)
16g.77335865C>GCA396832309ADAMTS18c.1750G>C (p.Gly584Arg)
c.1234G>C (p.Gly412Arg)
c.514G>C (p.Gly172Arg)
16g.77335865C>TCA8181172ADAMTS18c.1750G>A (p.Gly584Arg)
c.1234G>A (p.Gly412Arg)
c.514G>A (p.Gly172Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.77335866G>ACA284409637ADAMTS18c.1749C>T (p.Leu583=)
c.1233C>T (p.Leu411=)
c.513C>T (p.Leu171=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.77335866G>CCA496590661ADAMTS18c.1749C>G (p.Leu583=)
c.1233C>G (p.Leu411=)
c.513C>G (p.Leu171=)
 dbSNP
16g.77335866G=CA2234406178ADAMTS18c.1749C= (p.Leu583=)
c.1233C= (p.Leu411=)
c.513C= (p.Leu171=)
16g.77335866G>TCA496590659ADAMTS18c.1749C>A (p.Leu583=)
c.1233C>A (p.Leu411=)
c.513C>A (p.Leu171=)
16g.77335867A>CCA396832313ADAMTS18c.1748T>G (p.Leu583Arg)
c.1232T>G (p.Leu411Arg)
c.512T>G (p.Leu171Arg)
16g.77335867A>GCA396832317ADAMTS18c.1748T>C (p.Leu583Pro)
c.1232T>C (p.Leu411Pro)
c.512T>C (p.Leu171Pro)
16g.77335867A>TCA396832316ADAMTS18c.1748T>A (p.Leu583His)
c.1232T>A (p.Leu411His)
c.512T>A (p.Leu171His)
16g.77335868G>ACA396832320ADAMTS18c.1747C>T (p.Leu583Phe)
c.1231C>T (p.Leu411Phe)
c.511C>T (p.Leu171Phe)
16g.77335868G>CCA396832327ADAMTS18c.1747C>G (p.Leu583Val)
c.1231C>G (p.Leu411Val)
c.511C>G (p.Leu171Val)
16g.77335868G>TCA396832329ADAMTS18c.1747C>A (p.Leu583Ile)
c.1231C>A (p.Leu411Ile)
c.511C>A (p.Leu171Ile)
16g.77335869C>ACA396832330ADAMTS18c.1746G>T (p.Glu582Asp)
c.1230G>T (p.Glu410Asp)
c.510G>T (p.Glu170Asp)
 dbSNP gnomAD v3 gnomAD v4
16g.77335869C=CA2234406179ADAMTS18c.1746G= (p.Glu582=)
c.1230G= (p.Glu410=)
c.510G= (p.Glu170=)
16g.77335869C>GCA396832332ADAMTS18c.1746G>C (p.Glu582Asp)
c.1230G>C (p.Glu410Asp)
c.510G>C (p.Glu170Asp)
 gnomAD v4
16g.77335869C>TCA496590672ADAMTS18c.1746G>A (p.Glu582=)
c.1230G>A (p.Glu410=)
c.510G>A (p.Glu170=)
 gnomAD v4
16g.77335870T>ACA396832334ADAMTS18c.1745A>T (p.Glu582Val)
c.1229A>T (p.Glu410Val)
c.509A>T (p.Glu170Val)
16g.77335870T>CCA396832335ADAMTS18c.1745A>G (p.Glu582Gly)
c.1229A>G (p.Glu410Gly)
c.509A>G (p.Glu170Gly)
16g.77335870T>GCA396832336ADAMTS18c.1745A>C (p.Glu582Ala)
c.1229A>C (p.Glu410Ala)
c.509A>C (p.Glu170Ala)
 gnomAD v4
16g.77335871C>ACA396832337ADAMTS18c.1744G>T (p.Glu582Ter)
c.1228G>T (p.Glu410Ter)
c.508G>T (p.Glu170Ter)
16g.77335871C>GCA396832338ADAMTS18c.1744G>C (p.Glu582Gln)
c.1228G>C (p.Glu410Gln)
c.508G>C (p.Glu170Gln)
16g.77335871C>TCA396832339ADAMTS18c.1744G>A (p.Glu582Lys)
c.1228G>A (p.Glu410Lys)
c.508G>A (p.Glu170Lys)
16g.77335872C>ACA496590681ADAMTS18c.1743G>T (p.Gly581=)
c.1227G>T (p.Gly409=)
c.507G>T (p.Gly169=)
16g.77335872C>GCA496590683ADAMTS18c.1743G>C (p.Gly581=)
c.1227G>C (p.Gly409=)
c.507G>C (p.Gly169=)
16g.77335872C>TCA496590684ADAMTS18c.1743G>A (p.Gly581=)
c.1227G>A (p.Gly409=)
c.507G>A (p.Gly169=)
16g.77335873C>ACA396832343ADAMTS18c.1742G>T (p.Gly581Val)
c.1226G>T (p.Gly409Val)
c.506G>T (p.Gly169Val)
16g.77335873C=CA2234406182ADAMTS18c.1742G= (p.Gly581=)
c.1226G= (p.Gly409=)
c.506G= (p.Gly169=)
16g.77335873C>GCA8181173ADAMTS18c.1742G>C (p.Gly581Ala)
c.1226G>C (p.Gly409Ala)
c.506G>C (p.Gly169Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335873C>TCA396832340ADAMTS18c.1742G>A (p.Gly581Glu)
c.1226G>A (p.Gly409Glu)
c.506G>A (p.Gly169Glu)
 gnomAD v4
16g.77335874C>ACA284409640ADAMTS18c.1741G>T (p.Gly581Trp)
c.1225G>T (p.Gly409Trp)
c.505G>T (p.Gly169Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.77335874C=CA2234406184ADAMTS18c.1741G= (p.Gly581=)
c.1225G= (p.Gly409=)
c.505G= (p.Gly169=)
16g.77335874C>GCA396832346ADAMTS18c.1741G>C (p.Gly581Arg)
c.1225G>C (p.Gly409Arg)
c.505G>C (p.Gly169Arg)
 gnomAD v4
16g.77335874C>TCA396832348ADAMTS18c.1741G>A (p.Gly581Arg)
c.1225G>A (p.Gly409Arg)
c.505G>A (p.Gly169Arg)
16g.77335875A=CA2234406186ADAMTS18c.1740T= (p.Phe580=)
c.1224T= (p.Phe408=)
c.504T= (p.Phe168=)
16g.77335875A>CCA396832351ADAMTS18c.1740T>G (p.Phe580Leu)
c.1224T>G (p.Phe408Leu)
c.504T>G (p.Phe168Leu)
 gnomAD v4
16g.77335875A>GCA496590697ADAMTS18c.1740T>C (p.Phe580=)
c.1224T>C (p.Phe408=)
c.504T>C (p.Phe168=)
16g.77335875A>TCA396832354ADAMTS18c.1740T>A (p.Phe580Leu)
c.1224T>A (p.Phe408Leu)
c.504T>A (p.Phe168Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.77335876A=CA2234406188ADAMTS18c.1739T= (p.Phe580=)
c.1223T= (p.Phe408=)
c.503T= (p.Phe168=)
16g.77335876A>CCA396832355ADAMTS18c.1739T>G (p.Phe580Cys)
c.1223T>G (p.Phe408Cys)
c.503T>G (p.Phe168Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.77335876A>GCA8181174ADAMTS18c.1739T>C (p.Phe580Ser)
c.1223T>C (p.Phe408Ser)
c.503T>C (p.Phe168Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335876A>TCA396832358ADAMTS18c.1739T>A (p.Phe580Tyr)
c.1223T>A (p.Phe408Tyr)
c.503T>A (p.Phe168Tyr)
 gnomAD v4
16g.77335877A>CCA396832361ADAMTS18c.1738T>G (p.Phe580Val)
c.1222T>G (p.Phe408Val)
c.502T>G (p.Phe168Val)
16g.77335877A>GCA396832364ADAMTS18c.1738T>C (p.Phe580Leu)
c.1222T>C (p.Phe408Leu)
c.502T>C (p.Phe168Leu)
 COSMIC
16g.77335877A>TCA396832366ADAMTS18c.1738T>A (p.Phe580Ile)
c.1222T>A (p.Phe408Ile)
c.502T>A (p.Phe168Ile)
16g.77335878C>ACA396832376ADAMTS18c.1737G>T (p.Lys579Asn)
c.1221G>T (p.Lys407Asn)
c.501G>T (p.Lys167Asn)
16g.77335878C>GCA396832373ADAMTS18c.1737G>C (p.Lys579Asn)
c.1221G>C (p.Lys407Asn)
c.501G>C (p.Lys167Asn)
16g.77335878C>TCA496590710ADAMTS18c.1737G>A (p.Lys579=)
c.1221G>A (p.Lys407=)
c.501G>A (p.Lys167=)
16g.77335878_77335880delinsCTTCA2234406189ADAMTS18c.1735_1737delinsAAG (p.Lys579=)
c.1219_1221delinsAAG (p.Lys407=)
c.499_501delinsAAG (p.Lys167=)
16g.77335879T>ACA396832378ADAMTS18c.1736A>T (p.Lys579Met)
c.1220A>T (p.Lys407Met)
c.500A>T (p.Lys167Met)
16g.77335879T>CCA396832379ADAMTS18c.1736A>G (p.Lys579Arg)
c.1220A>G (p.Lys407Arg)
c.500A>G (p.Lys167Arg)
16g.77335879T>GCA8181176ADAMTS18c.1736A>C (p.Lys579Thr)
c.1220A>C (p.Lys407Thr)
c.500A>C (p.Lys167Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335879T=CA2234406192ADAMTS18c.1736A= (p.Lys579=)
c.1220A= (p.Lys407=)
c.500A= (p.Lys167=)
16g.77335880_77335881delCA8181175ADAMTS18c.1735_1736del (p.Lys579ValfsTer?)
c.1219_1220del (p.Lys407ValfsTer?)
c.499_500del (p.Lys167ValfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.77335880T>ACA396832384ADAMTS18c.1735A>T (p.Lys579Ter)
c.1219A>T (p.Lys407Ter)
c.499A>T (p.Lys167Ter)
16g.77335880T>CCA396832386ADAMTS18c.1735A>G (p.Lys579Glu)
c.1219A>G (p.Lys407Glu)
c.499A>G (p.Lys167Glu)
 dbSNP
16g.77335880T>GCA396832388ADAMTS18c.1735A>C (p.Lys579Gln)
c.1219A>C (p.Lys407Gln)
c.499A>C (p.Lys167Gln)
 dbSNP gnomAD v4
16g.77335880T=CA2234406200ADAMTS18c.1735A= (p.Lys579=)
c.1219A= (p.Lys407=)
c.499A= (p.Lys167=)
16g.77335881T>ACA496590723ADAMTS18c.1734A>T (p.Val578=)
c.1218A>T (p.Val406=)
c.498A>T (p.Val166=)
 gnomAD v4
16g.77335881T>CCA284409678ADAMTS18c.1734A>G (p.Val578=)
c.1218A>G (p.Val406=)
c.498A>G (p.Val166=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.77335881T>GCA496590726ADAMTS18c.1734A>C (p.Val578=)
c.1218A>C (p.Val406=)
c.498A>C (p.Val166=)
16g.77335881T=CA2234406207ADAMTS18c.1734A= (p.Val578=)
c.1218A= (p.Val406=)
c.498A= (p.Val166=)
16g.77335882A>CCA396832391ADAMTS18c.1733T>G (p.Val578Gly)
c.1217T>G (p.Val406Gly)
c.497T>G (p.Val166Gly)
16g.77335882A>GCA396832393ADAMTS18c.1733T>C (p.Val578Ala)
c.1217T>C (p.Val406Ala)
c.497T>C (p.Val166Ala)
16g.77335882A>TCA396832396ADAMTS18c.1733T>A (p.Val578Glu)
c.1217T>A (p.Val406Glu)
c.497T>A (p.Val166Glu)
16g.77335883C>ACA396832400ADAMTS18c.1732G>T (p.Val578Leu)
c.1216G>T (p.Val406Leu)
c.496G>T (p.Val166Leu)
 gnomAD v4
16g.77335883C=CA2234406213ADAMTS18c.1732G= (p.Val578=)
c.1216G= (p.Val406=)
c.496G= (p.Val166=)
16g.77335883C>GCA396832402ADAMTS18c.1732G>C (p.Val578Leu)
c.1216G>C (p.Val406Leu)
c.496G>C (p.Val166Leu)
16g.77335883C>TCA8181177ADAMTS18c.1732G>A (p.Val578Ile)
c.1216G>A (p.Val406Ile)
c.496G>A (p.Val166Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.77335884G>ACA284409685ADAMTS18c.1731C>T (p.Cys577=)
c.1215C>T (p.Cys405=)
c.495C>T (p.Cys165=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.77335884G>CCA144839ADAMTS18c.1731C>G (p.Cys577Trp)
c.1215C>G (p.Cys405Trp)
c.495C>G (p.Cys165Trp)
 ClinVar dbSNP gnomAD v4
16g.77335884G=CA2234406218ADAMTS18c.1731C= (p.Cys577=)
c.1215C= (p.Cys405=)
c.495C= (p.Cys165=)
16g.77335884G>TCA396832405ADAMTS18c.1731C>A (p.Cys577Ter)
c.1215C>A (p.Cys405Ter)
c.495C>A (p.Cys165Ter)
 COSMIC
16g.77335885C>ACA396832407ADAMTS18c.1730G>T (p.Cys577Phe)
c.1214G>T (p.Cys405Phe)
c.494G>T (p.Cys165Phe)
16g.77335885C=CA2234406224ADAMTS18c.1730G= (p.Cys577=)
c.1214G= (p.Cys405=)
c.494G= (p.Cys165=)
16g.77335885C>GCA396832410ADAMTS18c.1730G>C (p.Cys577Ser)
c.1214G>C (p.Cys405Ser)
c.494G>C (p.Cys165Ser)
16g.77335885C>TCA396832413ADAMTS18c.1730G>A (p.Cys577Tyr)
c.1214G>A (p.Cys405Tyr)
c.494G>A (p.Cys165Tyr)
 ClinVar dbSNP

Number of alleles fetched