Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.150557296C>ACA420898346ADAMTSL4,ADAMTSL4-AS2c.2008C>A (p.Arg670=)
c.2077C>A (p.Arg693=)
c.1891C>A (p.Arg631=)
c.622C>A (p.Arg208=)
c.2176C>A (p.Arg726=)
c.2107C>A (p.Arg703=)
c.685C>A (p.Arg229=)
n.2361C>A
n.139+397G>T
c.421C>A (p.Arg141=)
n.2161C>A
n.2334C>A
1g.150557296C=CA1143600764ADAMTSL4,ADAMTSL4-AS2c.2008C= (p.Arg670=)
c.2077C= (p.Arg693=)
c.1891C= (p.Arg631=)
c.622C= (p.Arg208=)
c.2176C= (p.Arg726=)
c.2107C= (p.Arg703=)
c.685C= (p.Arg229=)
n.2361C=
n.139+397G=
c.421C= (p.Arg141=)
n.2161C=
n.2334C=
1g.150557296C>GCA342313757ADAMTSL4,ADAMTSL4-AS2c.2008C>G (p.Arg670Gly)
c.2077C>G (p.Arg693Gly)
c.1891C>G (p.Arg631Gly)
c.622C>G (p.Arg208Gly)
c.2176C>G (p.Arg726Gly)
c.2107C>G (p.Arg703Gly)
c.685C>G (p.Arg229Gly)
n.2361C>G
n.139+397G>C
c.421C>G (p.Arg141Gly)
n.2161C>G
n.2334C>G
1g.150557296C>TCA261178ADAMTSL4,ADAMTSL4-AS2c.2008C>T (p.Arg670Ter)
c.2077C>T (p.Arg693Ter)
c.1891C>T (p.Arg631Ter)
c.622C>T (p.Arg208Ter)
c.2176C>T (p.Arg726Ter)
c.2107C>T (p.Arg703Ter)
c.685C>T (p.Arg229Ter)
n.2361C>T
n.139+397G>A
c.421C>T (p.Arg141Ter)
n.2161C>T
n.2334C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.150557297G>ACA1078484ADAMTSL4,ADAMTSL4-AS2c.2009G>A (p.Arg670Gln)
c.2078G>A (p.Arg693Gln)
c.1892G>A (p.Arg631Gln)
c.623G>A (p.Arg208Gln)
c.2177G>A (p.Arg726Gln)
c.2108G>A (p.Arg703Gln)
c.686G>A (p.Arg229Gln)
n.2362G>A
n.139+396C>T
c.422G>A (p.Arg141Gln)
n.2162G>A
n.2335G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.150557297G>CCA342313758ADAMTSL4,ADAMTSL4-AS2c.2009G>C (p.Arg670Pro)
c.2078G>C (p.Arg693Pro)
c.1892G>C (p.Arg631Pro)
c.623G>C (p.Arg208Pro)
c.2177G>C (p.Arg726Pro)
c.2108G>C (p.Arg703Pro)
c.686G>C (p.Arg229Pro)
n.2362G>C
n.139+396C>G
c.422G>C (p.Arg141Pro)
n.2162G>C
n.2335G>C
1g.150557297G=CA2479210865ADAMTSL4,ADAMTSL4-AS2c.2009G= (p.Arg670=)
c.2078G= (p.Arg693=)
c.1892G= (p.Arg631=)
c.623G= (p.Arg208=)
c.2177G= (p.Arg726=)
c.2108G= (p.Arg703=)
c.686G= (p.Arg229=)
n.2362G=
n.139+396C=
c.422G= (p.Arg141=)
n.2162G=
n.2335G=
1g.150557297G>TCA342313759ADAMTSL4,ADAMTSL4-AS2c.2009G>T (p.Arg670Leu)
c.2078G>T (p.Arg693Leu)
c.1892G>T (p.Arg631Leu)
c.623G>T (p.Arg208Leu)
c.2177G>T (p.Arg726Leu)
c.2108G>T (p.Arg703Leu)
c.686G>T (p.Arg229Leu)
n.2362G>T
n.139+396C>A
c.422G>T (p.Arg141Leu)
n.2162G>T
n.2335G>T
 dbSNP
1g.150557298A=CA2479210866ADAMTSL4,ADAMTSL4-AS2c.2010A= (p.Arg670=)
c.2079A= (p.Arg693=)
c.1893A= (p.Arg631=)
c.624A= (p.Arg208=)
c.2178A= (p.Arg726=)
c.2109A= (p.Arg703=)
c.687A= (p.Arg229=)
n.2363A=
n.139+395T=
c.423A= (p.Arg141=)
n.2163A=
n.2336A=
1g.150557298A>CCA420898348ADAMTSL4,ADAMTSL4-AS2c.2010A>C (p.Arg670=)
c.2079A>C (p.Arg693=)
c.1893A>C (p.Arg631=)
c.624A>C (p.Arg208=)
c.2178A>C (p.Arg726=)
c.2109A>C (p.Arg703=)
c.687A>C (p.Arg229=)
n.2363A>C
n.139+395T>G
c.423A>C (p.Arg141=)
n.2163A>C
n.2336A>C
1g.150557298A>GCA420898349ADAMTSL4,ADAMTSL4-AS2c.2010A>G (p.Arg670=)
c.2079A>G (p.Arg693=)
c.1893A>G (p.Arg631=)
c.624A>G (p.Arg208=)
c.2178A>G (p.Arg726=)
c.2109A>G (p.Arg703=)
c.687A>G (p.Arg229=)
n.2363A>G
n.139+395T>C
c.423A>G (p.Arg141=)
n.2163A>G
n.2336A>G
1g.150557298A>TCA420898350ADAMTSL4,ADAMTSL4-AS2c.2010A>T (p.Arg670=)
c.2079A>T (p.Arg693=)
c.1893A>T (p.Arg631=)
c.624A>T (p.Arg208=)
c.2178A>T (p.Arg726=)
c.2109A>T (p.Arg703=)
c.687A>T (p.Arg229=)
n.2363A>T
n.139+395T>A
c.423A>T (p.Arg141=)
n.2163A>T
n.2336A>T
 dbSNP gnomAD v2
1g.150557299G>ACA342313760ADAMTSL4,ADAMTSL4-AS2c.2011G>A (p.Val671Met)
c.2080G>A (p.Val694Met)
c.1894G>A (p.Val632Met)
c.625G>A (p.Val209Met)
c.2179G>A (p.Val727Met)
c.2110G>A (p.Val704Met)
c.688G>A (p.Val230Met)
n.2364G>A
n.139+394C>T
c.424G>A (p.Val142Met)
n.2164G>A
n.2337G>A
 gnomAD v4
1g.150557299G>CCA342313761ADAMTSL4,ADAMTSL4-AS2c.2011G>C (p.Val671Leu)
c.2080G>C (p.Val694Leu)
c.1894G>C (p.Val632Leu)
c.625G>C (p.Val209Leu)
c.2179G>C (p.Val727Leu)
c.2110G>C (p.Val704Leu)
c.688G>C (p.Val230Leu)
n.2364G>C
n.139+394C>G
c.424G>C (p.Val142Leu)
n.2164G>C
n.2337G>C
1g.150557299G>TCA342313762ADAMTSL4,ADAMTSL4-AS2c.2011G>T (p.Val671Leu)
c.2080G>T (p.Val694Leu)
c.1894G>T (p.Val632Leu)
c.625G>T (p.Val209Leu)
c.2179G>T (p.Val727Leu)
c.2110G>T (p.Val704Leu)
c.688G>T (p.Val230Leu)
n.2364G>T
n.139+394C>A
c.424G>T (p.Val142Leu)
n.2164G>T
n.2337G>T
1g.150557300T>ACA342313763ADAMTSL4,ADAMTSL4-AS2c.2012T>A (p.Val671Glu)
c.2081T>A (p.Val694Glu)
c.1895T>A (p.Val632Glu)
c.626T>A (p.Val209Glu)
c.2180T>A (p.Val727Glu)
c.2111T>A (p.Val704Glu)
c.689T>A (p.Val230Glu)
n.2365T>A
n.139+393A>T
c.425T>A (p.Val142Glu)
n.2165T>A
n.2338T>A
1g.150557300T>CCA342313765ADAMTSL4,ADAMTSL4-AS2c.2012T>C (p.Val671Ala)
c.2081T>C (p.Val694Ala)
c.1895T>C (p.Val632Ala)
c.626T>C (p.Val209Ala)
c.2180T>C (p.Val727Ala)
c.2111T>C (p.Val704Ala)
c.689T>C (p.Val230Ala)
n.2365T>C
n.139+393A>G
c.425T>C (p.Val142Ala)
n.2165T>C
n.2338T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.150557300T>GCA342313764ADAMTSL4,ADAMTSL4-AS2c.2012T>G (p.Val671Gly)
c.2081T>G (p.Val694Gly)
c.1895T>G (p.Val632Gly)
c.626T>G (p.Val209Gly)
c.2180T>G (p.Val727Gly)
c.2111T>G (p.Val704Gly)
c.689T>G (p.Val230Gly)
n.2365T>G
n.139+393A>C
c.425T>G (p.Val142Gly)
n.2165T>G
n.2338T>G
1g.150557300T=CA2479210867ADAMTSL4,ADAMTSL4-AS2c.2012T= (p.Val671=)
c.2081T= (p.Val694=)
c.1895T= (p.Val632=)
c.626T= (p.Val209=)
c.2180T= (p.Val727=)
c.2111T= (p.Val704=)
c.689T= (p.Val230=)
n.2365T=
n.139+393A=
c.425T= (p.Val142=)
n.2165T=
n.2338T=
1g.150557301G>ACA420898353ADAMTSL4,ADAMTSL4-AS2c.2013G>A (p.Val671=)
c.2082G>A (p.Val694=)
c.1896G>A (p.Val632=)
c.627G>A (p.Val209=)
c.2181G>A (p.Val727=)
c.2112G>A (p.Val704=)
c.690G>A (p.Val230=)
n.2366G>A
n.139+392C>T
c.426G>A (p.Val142=)
n.2166G>A
n.2339G>A
1g.150557301G>CCA420898355ADAMTSL4,ADAMTSL4-AS2c.2013G>C (p.Val671=)
c.2082G>C (p.Val694=)
c.1896G>C (p.Val632=)
c.627G>C (p.Val209=)
c.2181G>C (p.Val727=)
c.2112G>C (p.Val704=)
c.690G>C (p.Val230=)
n.2366G>C
n.139+392C>G
c.426G>C (p.Val142=)
n.2166G>C
n.2339G>C
1g.150557301G>TCA420898354ADAMTSL4,ADAMTSL4-AS2c.2013G>T (p.Val671=)
c.2082G>T (p.Val694=)
c.1896G>T (p.Val632=)
c.627G>T (p.Val209=)
c.2181G>T (p.Val727=)
c.2112G>T (p.Val704=)
c.690G>T (p.Val230=)
n.2366G>T
n.139+392C>A
c.426G>T (p.Val142=)
n.2166G>T
n.2339G>T
1g.150557303delCA2647815641ADAMTSL4,ADAMTSL4-AS2c.2015del (p.Gly672AspfsTer?)
c.2084del (p.Gly695AspfsTer?)
c.1898del (p.Gly633AspfsTer?)
c.629del (p.Gly210AspfsTer?)
c.2183del (p.Gly728AspfsTer?)
c.2114del (p.Gly705AspfsTer?)
c.692del (p.Gly231AspfsTer?)
n.2368del
n.139+392del
c.428del (p.Gly143AspfsTer?)
n.2168del
n.2341del
 gnomAD v4
1g.150557302G>ACA342313766ADAMTSL4,ADAMTSL4-AS2c.2014G>A (p.Gly672Arg)
c.2083G>A (p.Gly695Arg)
c.1897G>A (p.Gly633Arg)
c.628G>A (p.Gly210Arg)
c.2182G>A (p.Gly728Arg)
c.2113G>A (p.Gly705Arg)
c.691G>A (p.Gly231Arg)
n.2367G>A
n.139+391C>T
c.427G>A (p.Gly143Arg)
n.2167G>A
n.2340G>A
 dbSNP
1g.150557302G>CCA342313767ADAMTSL4,ADAMTSL4-AS2c.2014G>C (p.Gly672Arg)
c.2083G>C (p.Gly695Arg)
c.1897G>C (p.Gly633Arg)
c.628G>C (p.Gly210Arg)
c.2182G>C (p.Gly728Arg)
c.2113G>C (p.Gly705Arg)
c.691G>C (p.Gly231Arg)
n.2367G>C
n.139+391C>G
c.427G>C (p.Gly143Arg)
n.2167G>C
n.2340G>C
1g.150557302G=CA2479210868ADAMTSL4,ADAMTSL4-AS2c.2014G= (p.Gly672=)
c.2083G= (p.Gly695=)
c.1897G= (p.Gly633=)
c.628G= (p.Gly210=)
c.2182G= (p.Gly728=)
c.2113G= (p.Gly705=)
c.691G= (p.Gly231=)
n.2367G=
n.139+391C=
c.427G= (p.Gly143=)
n.2167G=
n.2340G=
1g.150557302G>TCA342313768ADAMTSL4,ADAMTSL4-AS2c.2014G>T (p.Gly672Ter)
c.2083G>T (p.Gly695Ter)
c.1897G>T (p.Gly633Ter)
c.628G>T (p.Gly210Ter)
c.2182G>T (p.Gly728Ter)
c.2113G>T (p.Gly705Ter)
c.691G>T (p.Gly231Ter)
n.2367G>T
n.139+391C>A
c.427G>T (p.Gly143Ter)
n.2167G>T
n.2340G>T
 gnomAD v4
1g.150557303G>ACA342313770ADAMTSL4,ADAMTSL4-AS2c.2015G>A (p.Gly672Glu)
c.2084G>A (p.Gly695Glu)
c.1898G>A (p.Gly633Glu)
c.629G>A (p.Gly210Glu)
c.2183G>A (p.Gly728Glu)
c.2114G>A (p.Gly705Glu)
c.692G>A (p.Gly231Glu)
n.2368G>A
n.139+390C>T
c.428G>A (p.Gly143Glu)
n.2168G>A
n.2341G>A
1g.150557303G>CCA342313772ADAMTSL4,ADAMTSL4-AS2c.2015G>C (p.Gly672Ala)
c.2084G>C (p.Gly695Ala)
c.1898G>C (p.Gly633Ala)
c.629G>C (p.Gly210Ala)
c.2183G>C (p.Gly728Ala)
c.2114G>C (p.Gly705Ala)
c.692G>C (p.Gly231Ala)
n.2368G>C
n.139+390C>G
c.428G>C (p.Gly143Ala)
n.2168G>C
n.2341G>C
1g.150557303G>TCA342313774ADAMTSL4,ADAMTSL4-AS2c.2015G>T (p.Gly672Val)
c.2084G>T (p.Gly695Val)
c.1898G>T (p.Gly633Val)
c.629G>T (p.Gly210Val)
c.2183G>T (p.Gly728Val)
c.2114G>T (p.Gly705Val)
c.692G>T (p.Gly231Val)
n.2368G>T
n.139+390C>A
c.428G>T (p.Gly143Val)
n.2168G>T
n.2341G>T
1g.150557304A=CA1143847590ADAMTSL4,ADAMTSL4-AS2c.2016A= (p.Gly672=)
c.2085A= (p.Gly695=)
c.1899A= (p.Gly633=)
c.630A= (p.Gly210=)
c.2184A= (p.Gly728=)
c.2115A= (p.Gly705=)
c.693A= (p.Gly231=)
n.2369A=
n.139+389T=
c.429A= (p.Gly143=)
n.2169A=
n.2342A=
1g.150557304A>CCA420898360ADAMTSL4,ADAMTSL4-AS2c.2016A>C (p.Gly672=)
c.2085A>C (p.Gly695=)
c.1899A>C (p.Gly633=)
c.630A>C (p.Gly210=)
c.2184A>C (p.Gly728=)
c.2115A>C (p.Gly705=)
c.693A>C (p.Gly231=)
n.2369A>C
n.139+389T>G
c.429A>C (p.Gly143=)
n.2169A>C
n.2342A>C
1g.150557304A>GCA420898362ADAMTSL4,ADAMTSL4-AS2c.2016A>G (p.Gly672=)
c.2085A>G (p.Gly695=)
c.1899A>G (p.Gly633=)
c.630A>G (p.Gly210=)
c.2184A>G (p.Gly728=)
c.2115A>G (p.Gly705=)
c.693A>G (p.Gly231=)
n.2369A>G
n.139+389T>C
c.429A>G (p.Gly143=)
n.2169A>G
n.2342A>G
1g.150557304A>TCA30071493ADAMTSL4,ADAMTSL4-AS2c.2016A>T (p.Gly672=)
c.2085A>T (p.Gly695=)
c.1899A>T (p.Gly633=)
c.630A>T (p.Gly210=)
c.2184A>T (p.Gly728=)
c.2115A>T (p.Gly705=)
c.693A>T (p.Gly231=)
n.2369A>T
n.139+389T>A
c.429A>T (p.Gly143=)
n.2169A>T
n.2342A>T
 dbSNP gnomAD v2 gnomAD v4
1g.150557305C>ACA342313777ADAMTSL4,ADAMTSL4-AS2c.2017C>A (p.His673Asn)
c.2086C>A (p.His696Asn)
c.1900C>A (p.His634Asn)
c.631C>A (p.His211Asn)
c.2185C>A (p.His729Asn)
c.2116C>A (p.His706Asn)
c.694C>A (p.His232Asn)
n.2370C>A
n.139+388G>T
c.430C>A (p.His144Asn)
n.2170C>A
n.2343C>A
1g.150557305C=CA2479210869ADAMTSL4,ADAMTSL4-AS2c.2017C= (p.His673=)
c.2086C= (p.His696=)
c.1900C= (p.His634=)
c.631C= (p.His211=)
c.2185C= (p.His729=)
c.2116C= (p.His706=)
c.694C= (p.His232=)
n.2370C=
n.139+388G=
c.430C= (p.His144=)
n.2170C=
n.2343C=
1g.150557305C>GCA342313779ADAMTSL4,ADAMTSL4-AS2c.2017C>G (p.His673Asp)
c.2086C>G (p.His696Asp)
c.1900C>G (p.His634Asp)
c.631C>G (p.His211Asp)
c.2185C>G (p.His729Asp)
c.2116C>G (p.His706Asp)
c.694C>G (p.His232Asp)
n.2370C>G
n.139+388G>C
c.430C>G (p.His144Asp)
n.2170C>G
n.2343C>G
1g.150557305C>TCA342313780ADAMTSL4,ADAMTSL4-AS2c.2017C>T (p.His673Tyr)
c.2086C>T (p.His696Tyr)
c.1900C>T (p.His634Tyr)
c.631C>T (p.His211Tyr)
c.2185C>T (p.His729Tyr)
c.2116C>T (p.His706Tyr)
c.694C>T (p.His232Tyr)
n.2370C>T
n.139+388G>A
c.430C>T (p.His144Tyr)
n.2170C>T
n.2343C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.150557306A=CA2479210871ADAMTSL4,ADAMTSL4-AS2c.2018A= (p.His673=)
c.2087A= (p.His696=)
c.1901A= (p.His634=)
c.632A= (p.His211=)
c.2186A= (p.His729=)
c.2117A= (p.His706=)
c.695A= (p.His232=)
n.2371A=
n.139+387T=
c.431A= (p.His144=)
n.2171A=
n.2344A=
1g.150557306A>CCA342313786ADAMTSL4,ADAMTSL4-AS2c.2018A>C (p.His673Pro)
c.2087A>C (p.His696Pro)
c.1901A>C (p.His634Pro)
c.632A>C (p.His211Pro)
c.2186A>C (p.His729Pro)
c.2117A>C (p.His706Pro)
c.695A>C (p.His232Pro)
n.2371A>C
n.139+387T>G
c.431A>C (p.His144Pro)
n.2171A>C
n.2344A>C
1g.150557306A>GCA342313784ADAMTSL4,ADAMTSL4-AS2c.2018A>G (p.His673Arg)
c.2087A>G (p.His696Arg)
c.1901A>G (p.His634Arg)
c.632A>G (p.His211Arg)
c.2186A>G (p.His729Arg)
c.2117A>G (p.His706Arg)
c.695A>G (p.His232Arg)
n.2371A>G
n.139+387T>C
c.431A>G (p.His144Arg)
n.2171A>G
n.2344A>G
 dbSNP gnomAD v4
1g.150557306A>TCA342313783ADAMTSL4,ADAMTSL4-AS2c.2018A>T (p.His673Leu)
c.2087A>T (p.His696Leu)
c.1901A>T (p.His634Leu)
c.632A>T (p.His211Leu)
c.2186A>T (p.His729Leu)
c.2117A>T (p.His706Leu)
c.695A>T (p.His232Leu)
n.2371A>T
n.139+387T>A
c.431A>T (p.His144Leu)
n.2171A>T
n.2344A>T
1g.150557306_150557308delinsACTCA2479210870ADAMTSL4,ADAMTSL4-AS2c.2018_2020delinsACT (p.His673=)
c.2087_2089delinsACT (p.His696=)
c.1901_1903delinsACT (p.His634=)
c.632_634delinsACT (p.His211=)
c.2186_2188delinsACT (p.His729=)
c.2117_2119delinsACT (p.His706=)
c.695_697delinsACT (p.His232=)
n.2371_2373delinsACT
n.139+385_139+387delinsAGT
c.431_433delinsACT (p.His144=)
n.2171_2173delinsACT
n.2344_2346delinsACT
1g.150557307C>ACA342313789ADAMTSL4,ADAMTSL4-AS2c.2019C>A (p.His673Gln)
c.2088C>A (p.His696Gln)
c.1902C>A (p.His634Gln)
c.633C>A (p.His211Gln)
c.2187C>A (p.His729Gln)
c.2118C>A (p.His706Gln)
c.696C>A (p.His232Gln)
n.2372C>A
n.139+386G>T
c.432C>A (p.His144Gln)
n.2172C>A
n.2345C>A
1g.150557307C=CA2479210872ADAMTSL4,ADAMTSL4-AS2c.2019C= (p.His673=)
c.2088C= (p.His696=)
c.1902C= (p.His634=)
c.633C= (p.His211=)
c.2187C= (p.His729=)
c.2118C= (p.His706=)
c.696C= (p.His232=)
n.2372C=
n.139+386G=
c.432C= (p.His144=)
n.2172C=
n.2345C=
1g.150557307C>GCA342313791ADAMTSL4,ADAMTSL4-AS2c.2019C>G (p.His673Gln)
c.2088C>G (p.His696Gln)
c.1902C>G (p.His634Gln)
c.633C>G (p.His211Gln)
c.2187C>G (p.His729Gln)
c.2118C>G (p.His706Gln)
c.696C>G (p.His232Gln)
n.2372C>G
n.139+386G>C
c.432C>G (p.His144Gln)
n.2172C>G
n.2345C>G
1g.150557307C>TCA420898364ADAMTSL4,ADAMTSL4-AS2c.2019C>T (p.His673=)
c.2088C>T (p.His696=)
c.1902C>T (p.His634=)
c.633C>T (p.His211=)
c.2187C>T (p.His729=)
c.2118C>T (p.His706=)
c.696C>T (p.His232=)
n.2372C>T
n.139+386G>A
c.432C>T (p.His144=)
n.2172C>T
n.2345C>T
 dbSNP gnomAD v4
1g.150557309_150557310dupCA2561717433ADAMTSL4,ADAMTSL4-AS2c.2021_2022dup (p.Ala675LeufsTer?)
c.2090_2091dup (p.Ala698LeufsTer?)
c.1904_1905dup (p.Ala636LeufsTer?)
c.635_636dup (p.Ala213LeufsTer?)
c.2189_2190dup (p.Ala731LeufsTer?)
c.2120_2121dup (p.Ala708LeufsTer?)
c.698_699dup (p.Ala234LeufsTer?)
n.2374_2375dup
n.139+385_139+386dup
c.434_435dup (p.Ala146LeufsTer?)
n.2174_2175dup
n.2347_2348dup
1g.150557309_150557310delCA1078485ADAMTSL4,ADAMTSL4-AS2c.2021_2022del (p.Ser674CysfsTer21)
c.2090_2091del (p.Ser697CysfsTer21)
c.1904_1905del (p.Ser635CysfsTer21)
c.635_636del (p.Ser212CysfsTer21)
c.2189_2190del (p.Ser730CysfsTer21)
c.2120_2121del (p.Ser707CysfsTer21)
c.698_699del (p.Ser233CysfsTer21)
n.2374_2375del
n.139+385_139+386del
c.434_435del (p.Ser145CysfsTer21)
n.2174_2175del
n.2347_2348del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.150557308T>ACA342313794ADAMTSL4,ADAMTSL4-AS2c.2020T>A (p.Ser674Thr)
c.2089T>A (p.Ser697Thr)
c.1903T>A (p.Ser635Thr)
c.634T>A (p.Ser212Thr)
c.2188T>A (p.Ser730Thr)
c.2119T>A (p.Ser707Thr)
c.697T>A (p.Ser233Thr)
n.2373T>A
n.139+385A>T
c.433T>A (p.Ser145Thr)
n.2173T>A
n.2346T>A

Number of alleles fetched