Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71784969A>CCA377146656CDH23c.5581A>C (p.Ser1861Arg)
c.5596A>C (p.Ser1866Arg)
c.5776A>C (p.Ser1926Arg)
c.5710A>C (p.Ser1904Arg)
c.5773A>C (p.Ser1925Arg)
c.5770A>C (p.Ser1924Arg)
c.5716A>C (p.Ser1906Arg)
c.5641A>C (p.Ser1881Arg)
c.5236A>C (p.Ser1746Arg)
c.4594A>C (p.Ser1532Arg)
c.2104A>C (p.Ser702Arg)
n.6019A>C
10g.71784969A>GCA377146655CDH23c.5581A>G (p.Ser1861Gly)
c.5596A>G (p.Ser1866Gly)
c.5776A>G (p.Ser1926Gly)
c.5710A>G (p.Ser1904Gly)
c.5773A>G (p.Ser1925Gly)
c.5770A>G (p.Ser1924Gly)
c.5716A>G (p.Ser1906Gly)
c.5641A>G (p.Ser1881Gly)
c.5236A>G (p.Ser1746Gly)
c.4594A>G (p.Ser1532Gly)
c.2104A>G (p.Ser702Gly)
n.6019A>G
10g.71784969A>TCA377146653CDH23c.5581A>T (p.Ser1861Cys)
c.5596A>T (p.Ser1866Cys)
c.5776A>T (p.Ser1926Cys)
c.5710A>T (p.Ser1904Cys)
c.5773A>T (p.Ser1925Cys)
c.5770A>T (p.Ser1924Cys)
c.5716A>T (p.Ser1906Cys)
c.5641A>T (p.Ser1881Cys)
c.5236A>T (p.Ser1746Cys)
c.4594A>T (p.Ser1532Cys)
c.2104A>T (p.Ser702Cys)
n.6019A>T
10g.71784970G>ACA377146658CDH23c.5582G>A (p.Ser1861Asn)
c.5597G>A (p.Ser1866Asn)
c.5777G>A (p.Ser1926Asn)
c.5711G>A (p.Ser1904Asn)
c.5774G>A (p.Ser1925Asn)
c.5771G>A (p.Ser1924Asn)
c.5717G>A (p.Ser1906Asn)
c.5642G>A (p.Ser1881Asn)
c.5237G>A (p.Ser1746Asn)
c.4595G>A (p.Ser1532Asn)
c.2105G>A (p.Ser702Asn)
n.6020G>A
 gnomAD v4
10g.71784970G>CCA377146660CDH23c.5582G>C (p.Ser1861Thr)
c.5597G>C (p.Ser1866Thr)
c.5777G>C (p.Ser1926Thr)
c.5711G>C (p.Ser1904Thr)
c.5774G>C (p.Ser1925Thr)
c.5771G>C (p.Ser1924Thr)
c.5717G>C (p.Ser1906Thr)
c.5642G>C (p.Ser1881Thr)
c.5237G>C (p.Ser1746Thr)
c.4595G>C (p.Ser1532Thr)
c.2105G>C (p.Ser702Thr)
n.6020G>C
10g.71784970G>TCA377146661CDH23c.5582G>T (p.Ser1861Ile)
c.5597G>T (p.Ser1866Ile)
c.5777G>T (p.Ser1926Ile)
c.5711G>T (p.Ser1904Ile)
c.5774G>T (p.Ser1925Ile)
c.5771G>T (p.Ser1924Ile)
c.5717G>T (p.Ser1906Ile)
c.5642G>T (p.Ser1881Ile)
c.5237G>T (p.Ser1746Ile)
c.4595G>T (p.Ser1532Ile)
c.2105G>T (p.Ser702Ile)
n.6020G>T
10g.71784971C>ACA377146662CDH23c.5583C>A (p.Ser1861Arg)
c.5598C>A (p.Ser1866Arg)
c.5778C>A (p.Ser1926Arg)
c.5712C>A (p.Ser1904Arg)
c.5775C>A (p.Ser1925Arg)
c.5772C>A (p.Ser1924Arg)
c.5718C>A (p.Ser1906Arg)
c.5643C>A (p.Ser1881Arg)
c.5238C>A (p.Ser1746Arg)
c.4596C>A (p.Ser1532Arg)
c.2106C>A (p.Ser702Arg)
n.6021C>A
10g.71784971C=CA1918862271CDH23c.5583C= (p.Ser1861=)
c.5598C= (p.Ser1866=)
c.5778C= (p.Ser1926=)
c.5712C= (p.Ser1904=)
c.5775C= (p.Ser1925=)
c.5772C= (p.Ser1924=)
c.5718C= (p.Ser1906=)
c.5643C= (p.Ser1881=)
c.5238C= (p.Ser1746=)
c.4596C= (p.Ser1532=)
c.2106C= (p.Ser702=)
n.6021C=
10g.71784971C>GCA377146663CDH23c.5583C>G (p.Ser1861Arg)
c.5598C>G (p.Ser1866Arg)
c.5778C>G (p.Ser1926Arg)
c.5712C>G (p.Ser1904Arg)
c.5775C>G (p.Ser1925Arg)
c.5772C>G (p.Ser1924Arg)
c.5718C>G (p.Ser1906Arg)
c.5643C>G (p.Ser1881Arg)
c.5238C>G (p.Ser1746Arg)
c.4596C>G (p.Ser1532Arg)
c.2106C>G (p.Ser702Arg)
n.6021C>G
10g.71784971C>TCA5545812CDH23c.5583C>T (p.Ser1861=)
c.5598C>T (p.Ser1866=)
c.5778C>T (p.Ser1926=)
c.5712C>T (p.Ser1904=)
c.5775C>T (p.Ser1925=)
c.5772C>T (p.Ser1924=)
c.5718C>T (p.Ser1906=)
c.5643C>T (p.Ser1881=)
c.5238C>T (p.Ser1746=)
c.4596C>T (p.Ser1532=)
c.2106C>T (p.Ser702=)
n.6021C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784972G>ACA5545813CDH23c.5584G>A (p.Glu1862Lys)
c.5599G>A (p.Glu1867Lys)
c.5779G>A (p.Glu1927Lys)
c.5713G>A (p.Glu1905Lys)
c.5776G>A (p.Glu1926Lys)
c.5773G>A (p.Glu1925Lys)
c.5719G>A (p.Glu1907Lys)
c.5644G>A (p.Glu1882Lys)
c.5239G>A (p.Glu1747Lys)
c.4597G>A (p.Glu1533Lys)
c.2107G>A (p.Glu703Lys)
n.6022G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784972G>CCA377146665CDH23c.5584G>C (p.Glu1862Gln)
c.5599G>C (p.Glu1867Gln)
c.5779G>C (p.Glu1927Gln)
c.5713G>C (p.Glu1905Gln)
c.5776G>C (p.Glu1926Gln)
c.5773G>C (p.Glu1925Gln)
c.5719G>C (p.Glu1907Gln)
c.5644G>C (p.Glu1882Gln)
c.5239G>C (p.Glu1747Gln)
c.4597G>C (p.Glu1533Gln)
c.2107G>C (p.Glu703Gln)
n.6022G>C
10g.71784972G=CA1918862280CDH23c.5584G= (p.Glu1862=)
c.5599G= (p.Glu1867=)
c.5779G= (p.Glu1927=)
c.5713G= (p.Glu1905=)
c.5776G= (p.Glu1926=)
c.5773G= (p.Glu1925=)
c.5719G= (p.Glu1907=)
c.5644G= (p.Glu1882=)
c.5239G= (p.Glu1747=)
c.4597G= (p.Glu1533=)
c.2107G= (p.Glu703=)
n.6022G=
10g.71784972G>TCA377146666CDH23c.5584G>T (p.Glu1862Ter)
c.5599G>T (p.Glu1867Ter)
c.5779G>T (p.Glu1927Ter)
c.5713G>T (p.Glu1905Ter)
c.5776G>T (p.Glu1926Ter)
c.5773G>T (p.Glu1925Ter)
c.5719G>T (p.Glu1907Ter)
c.5644G>T (p.Glu1882Ter)
c.5239G>T (p.Glu1747Ter)
c.4597G>T (p.Glu1533Ter)
c.2107G>T (p.Glu703Ter)
n.6022G>T
 dbSNP
10g.71784973A>CCA377146668CDH23c.5585A>C (p.Glu1862Ala)
c.5600A>C (p.Glu1867Ala)
c.5780A>C (p.Glu1927Ala)
c.5714A>C (p.Glu1905Ala)
c.5777A>C (p.Glu1926Ala)
c.5774A>C (p.Glu1925Ala)
c.5720A>C (p.Glu1907Ala)
c.5645A>C (p.Glu1882Ala)
c.5240A>C (p.Glu1747Ala)
c.4598A>C (p.Glu1533Ala)
c.2108A>C (p.Glu703Ala)
n.6023A>C
10g.71784973A>GCA377146669CDH23c.5585A>G (p.Glu1862Gly)
c.5600A>G (p.Glu1867Gly)
c.5780A>G (p.Glu1927Gly)
c.5714A>G (p.Glu1905Gly)
c.5777A>G (p.Glu1926Gly)
c.5774A>G (p.Glu1925Gly)
c.5720A>G (p.Glu1907Gly)
c.5645A>G (p.Glu1882Gly)
c.5240A>G (p.Glu1747Gly)
c.4598A>G (p.Glu1533Gly)
c.2108A>G (p.Glu703Gly)
n.6023A>G
10g.71784973A>TCA377146670CDH23c.5585A>T (p.Glu1862Val)
c.5600A>T (p.Glu1867Val)
c.5780A>T (p.Glu1927Val)
c.5714A>T (p.Glu1905Val)
c.5777A>T (p.Glu1926Val)
c.5774A>T (p.Glu1925Val)
c.5720A>T (p.Glu1907Val)
c.5645A>T (p.Glu1882Val)
c.5240A>T (p.Glu1747Val)
c.4598A>T (p.Glu1533Val)
c.2108A>T (p.Glu703Val)
n.6023A>T
10g.71784974G>ACA470060733CDH23c.5586G>A (p.Glu1862=)
c.5601G>A (p.Glu1867=)
c.5781G>A (p.Glu1927=)
c.5715G>A (p.Glu1905=)
c.5778G>A (p.Glu1926=)
c.5775G>A (p.Glu1925=)
c.5721G>A (p.Glu1907=)
c.5646G>A (p.Glu1882=)
c.5241G>A (p.Glu1747=)
c.4599G>A (p.Glu1533=)
c.2109G>A (p.Glu703=)
n.6024G>A
 ClinVar gnomAD v4
10g.71784974G>CCA377146672CDH23c.5586G>C (p.Glu1862Asp)
c.5601G>C (p.Glu1867Asp)
c.5781G>C (p.Glu1927Asp)
c.5715G>C (p.Glu1905Asp)
c.5778G>C (p.Glu1926Asp)
c.5775G>C (p.Glu1925Asp)
c.5721G>C (p.Glu1907Asp)
c.5646G>C (p.Glu1882Asp)
c.5241G>C (p.Glu1747Asp)
c.4599G>C (p.Glu1533Asp)
c.2109G>C (p.Glu703Asp)
n.6024G>C
10g.71784974G>TCA377146674CDH23c.5586G>T (p.Glu1862Asp)
c.5601G>T (p.Glu1867Asp)
c.5781G>T (p.Glu1927Asp)
c.5715G>T (p.Glu1905Asp)
c.5778G>T (p.Glu1926Asp)
c.5775G>T (p.Glu1925Asp)
c.5721G>T (p.Glu1907Asp)
c.5646G>T (p.Glu1882Asp)
c.5241G>T (p.Glu1747Asp)
c.4599G>T (p.Glu1533Asp)
c.2109G>T (p.Glu703Asp)
n.6024G>T
10g.71784975A>CCA377146676CDH23c.5587A>C (p.Asn1863His)
c.5602A>C (p.Asn1868His)
c.5782A>C (p.Asn1928His)
c.5716A>C (p.Asn1906His)
c.5779A>C (p.Asn1927His)
c.5776A>C (p.Asn1926His)
c.5722A>C (p.Asn1908His)
c.5647A>C (p.Asn1883His)
c.5242A>C (p.Asn1748His)
c.4600A>C (p.Asn1534His)
c.2110A>C (p.Asn704His)
n.6025A>C
10g.71784975A>GCA377146678CDH23c.5587A>G (p.Asn1863Asp)
c.5602A>G (p.Asn1868Asp)
c.5782A>G (p.Asn1928Asp)
c.5716A>G (p.Asn1906Asp)
c.5779A>G (p.Asn1927Asp)
c.5776A>G (p.Asn1926Asp)
c.5722A>G (p.Asn1908Asp)
c.5647A>G (p.Asn1883Asp)
c.5242A>G (p.Asn1748Asp)
c.4600A>G (p.Asn1534Asp)
c.2110A>G (p.Asn704Asp)
n.6025A>G
 gnomAD v4
10g.71784975A>TCA377146677CDH23c.5587A>T (p.Asn1863Tyr)
c.5602A>T (p.Asn1868Tyr)
c.5782A>T (p.Asn1928Tyr)
c.5716A>T (p.Asn1906Tyr)
c.5779A>T (p.Asn1927Tyr)
c.5776A>T (p.Asn1926Tyr)
c.5722A>T (p.Asn1908Tyr)
c.5647A>T (p.Asn1883Tyr)
c.5242A>T (p.Asn1748Tyr)
c.4600A>T (p.Asn1534Tyr)
c.2110A>T (p.Asn704Tyr)
n.6025A>T
10g.71784976A>CCA377146680CDH23c.5588A>C (p.Asn1863Thr)
c.5603A>C (p.Asn1868Thr)
c.5783A>C (p.Asn1928Thr)
c.5717A>C (p.Asn1906Thr)
c.5780A>C (p.Asn1927Thr)
c.5777A>C (p.Asn1926Thr)
c.5723A>C (p.Asn1908Thr)
c.5648A>C (p.Asn1883Thr)
c.5243A>C (p.Asn1748Thr)
c.4601A>C (p.Asn1534Thr)
c.2111A>C (p.Asn704Thr)
n.6026A>C
10g.71784976A>GCA377146682CDH23c.5588A>G (p.Asn1863Ser)
c.5603A>G (p.Asn1868Ser)
c.5783A>G (p.Asn1928Ser)
c.5717A>G (p.Asn1906Ser)
c.5780A>G (p.Asn1927Ser)
c.5777A>G (p.Asn1926Ser)
c.5723A>G (p.Asn1908Ser)
c.5648A>G (p.Asn1883Ser)
c.5243A>G (p.Asn1748Ser)
c.4601A>G (p.Asn1534Ser)
c.2111A>G (p.Asn704Ser)
n.6026A>G
10g.71784976A>TCA377146683CDH23c.5588A>T (p.Asn1863Ile)
c.5603A>T (p.Asn1868Ile)
c.5783A>T (p.Asn1928Ile)
c.5717A>T (p.Asn1906Ile)
c.5780A>T (p.Asn1927Ile)
c.5777A>T (p.Asn1926Ile)
c.5723A>T (p.Asn1908Ile)
c.5648A>T (p.Asn1883Ile)
c.5243A>T (p.Asn1748Ile)
c.4601A>T (p.Asn1534Ile)
c.2111A>T (p.Asn704Ile)
n.6026A>T
10g.71784977C>ACA377146685CDH23c.5589C>A (p.Asn1863Lys)
c.5604C>A (p.Asn1868Lys)
c.5784C>A (p.Asn1928Lys)
c.5718C>A (p.Asn1906Lys)
c.5781C>A (p.Asn1927Lys)
c.5778C>A (p.Asn1926Lys)
c.5724C>A (p.Asn1908Lys)
c.5649C>A (p.Asn1883Lys)
c.5244C>A (p.Asn1748Lys)
c.4602C>A (p.Asn1534Lys)
c.2112C>A (p.Asn704Lys)
n.6027C>A
10g.71784977C>GCA377146686CDH23c.5589C>G (p.Asn1863Lys)
c.5604C>G (p.Asn1868Lys)
c.5784C>G (p.Asn1928Lys)
c.5718C>G (p.Asn1906Lys)
c.5781C>G (p.Asn1927Lys)
c.5778C>G (p.Asn1926Lys)
c.5724C>G (p.Asn1908Lys)
c.5649C>G (p.Asn1883Lys)
c.5244C>G (p.Asn1748Lys)
c.4602C>G (p.Asn1534Lys)
c.2112C>G (p.Asn704Lys)
n.6027C>G
10g.71784977C>TCA470060734CDH23c.5589C>T (p.Asn1863=)
c.5604C>T (p.Asn1868=)
c.5784C>T (p.Asn1928=)
c.5718C>T (p.Asn1906=)
c.5781C>T (p.Asn1927=)
c.5778C>T (p.Asn1926=)
c.5724C>T (p.Asn1908=)
c.5649C>T (p.Asn1883=)
c.5244C>T (p.Asn1748=)
c.4602C>T (p.Asn1534=)
c.2112C>T (p.Asn704=)
n.6027C>T
 ClinVar dbSNP gnomAD v4
10g.71784978A=CA1918862289CDH23c.5590A= (p.Ser1864=)
c.5605A= (p.Ser1869=)
c.5785A= (p.Ser1929=)
c.5719A= (p.Ser1907=)
c.5782A= (p.Ser1928=)
c.5779A= (p.Ser1927=)
c.5725A= (p.Ser1909=)
c.5650A= (p.Ser1884=)
c.5245A= (p.Ser1749=)
c.4603A= (p.Ser1535=)
c.2113A= (p.Ser705=)
n.6028A=
10g.71784978A>CCA377146687CDH23c.5590A>C (p.Ser1864Arg)
c.5605A>C (p.Ser1869Arg)
c.5785A>C (p.Ser1929Arg)
c.5719A>C (p.Ser1907Arg)
c.5782A>C (p.Ser1928Arg)
c.5779A>C (p.Ser1927Arg)
c.5725A>C (p.Ser1909Arg)
c.5650A>C (p.Ser1884Arg)
c.5245A>C (p.Ser1749Arg)
c.4603A>C (p.Ser1535Arg)
c.2113A>C (p.Ser705Arg)
n.6028A>C
10g.71784978A>GCA377146688CDH23c.5590A>G (p.Ser1864Gly)
c.5605A>G (p.Ser1869Gly)
c.5785A>G (p.Ser1929Gly)
c.5719A>G (p.Ser1907Gly)
c.5782A>G (p.Ser1928Gly)
c.5779A>G (p.Ser1927Gly)
c.5725A>G (p.Ser1909Gly)
c.5650A>G (p.Ser1884Gly)
c.5245A>G (p.Ser1749Gly)
c.4603A>G (p.Ser1535Gly)
c.2113A>G (p.Ser705Gly)
n.6028A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71784978A>TCA377146690CDH23c.5590A>T (p.Ser1864Cys)
c.5605A>T (p.Ser1869Cys)
c.5785A>T (p.Ser1929Cys)
c.5719A>T (p.Ser1907Cys)
c.5782A>T (p.Ser1928Cys)
c.5779A>T (p.Ser1927Cys)
c.5725A>T (p.Ser1909Cys)
c.5650A>T (p.Ser1884Cys)
c.5245A>T (p.Ser1749Cys)
c.4603A>T (p.Ser1535Cys)
c.2113A>T (p.Ser705Cys)
n.6028A>T
10g.71784979G>ACA377146692CDH23c.5591G>A (p.Ser1864Asn)
c.5606G>A (p.Ser1869Asn)
c.5786G>A (p.Ser1929Asn)
c.5720G>A (p.Ser1907Asn)
c.5783G>A (p.Ser1928Asn)
c.5780G>A (p.Ser1927Asn)
c.5726G>A (p.Ser1909Asn)
c.5651G>A (p.Ser1884Asn)
c.5246G>A (p.Ser1749Asn)
c.4604G>A (p.Ser1535Asn)
c.2114G>A (p.Ser705Asn)
n.6029G>A
10g.71784979G>CCA377146693CDH23c.5591G>C (p.Ser1864Thr)
c.5606G>C (p.Ser1869Thr)
c.5786G>C (p.Ser1929Thr)
c.5720G>C (p.Ser1907Thr)
c.5783G>C (p.Ser1928Thr)
c.5780G>C (p.Ser1927Thr)
c.5726G>C (p.Ser1909Thr)
c.5651G>C (p.Ser1884Thr)
c.5246G>C (p.Ser1749Thr)
c.4604G>C (p.Ser1535Thr)
c.2114G>C (p.Ser705Thr)
n.6029G>C
10g.71784979G>TCA377146695CDH23c.5591G>T (p.Ser1864Ile)
c.5606G>T (p.Ser1869Ile)
c.5786G>T (p.Ser1929Ile)
c.5720G>T (p.Ser1907Ile)
c.5783G>T (p.Ser1928Ile)
c.5780G>T (p.Ser1927Ile)
c.5726G>T (p.Ser1909Ile)
c.5651G>T (p.Ser1884Ile)
c.5246G>T (p.Ser1749Ile)
c.4604G>T (p.Ser1535Ile)
c.2114G>T (p.Ser705Ile)
n.6029G>T
10g.71784980C>ACA377146698CDH23c.5592C>A (p.Ser1864Arg)
c.5607C>A (p.Ser1869Arg)
c.5787C>A (p.Ser1929Arg)
c.5721C>A (p.Ser1907Arg)
c.5784C>A (p.Ser1928Arg)
c.5781C>A (p.Ser1927Arg)
c.5727C>A (p.Ser1909Arg)
c.5652C>A (p.Ser1884Arg)
c.5247C>A (p.Ser1749Arg)
c.4605C>A (p.Ser1535Arg)
c.2115C>A (p.Ser705Arg)
n.6030C>A
10g.71784980C>GCA377146696CDH23c.5592C>G (p.Ser1864Arg)
c.5607C>G (p.Ser1869Arg)
c.5787C>G (p.Ser1929Arg)
c.5721C>G (p.Ser1907Arg)
c.5784C>G (p.Ser1928Arg)
c.5781C>G (p.Ser1927Arg)
c.5727C>G (p.Ser1909Arg)
c.5652C>G (p.Ser1884Arg)
c.5247C>G (p.Ser1749Arg)
c.4605C>G (p.Ser1535Arg)
c.2115C>G (p.Ser705Arg)
n.6030C>G
10g.71784980C>TCA470060735CDH23c.5592C>T (p.Ser1864=)
c.5607C>T (p.Ser1869=)
c.5787C>T (p.Ser1929=)
c.5721C>T (p.Ser1907=)
c.5784C>T (p.Ser1928=)
c.5781C>T (p.Ser1927=)
c.5727C>T (p.Ser1909=)
c.5652C>T (p.Ser1884=)
c.5247C>T (p.Ser1749=)
c.4605C>T (p.Ser1535=)
c.2115C>T (p.Ser705=)
n.6030C>T
 ClinVar dbSNP
10g.71784981C>ACA377146700CDH23c.5593C>A (p.Pro1865Thr)
c.5608C>A (p.Pro1870Thr)
c.5788C>A (p.Pro1930Thr)
c.5722C>A (p.Pro1908Thr)
c.5785C>A (p.Pro1929Thr)
c.5782C>A (p.Pro1928Thr)
c.5728C>A (p.Pro1910Thr)
c.5653C>A (p.Pro1885Thr)
c.5248C>A (p.Pro1750Thr)
c.4606C>A (p.Pro1536Thr)
c.2116C>A (p.Pro706Thr)
n.6031C>A
 dbSNP
10g.71784981C=CA1918862296CDH23c.5593C= (p.Pro1865=)
c.5608C= (p.Pro1870=)
c.5788C= (p.Pro1930=)
c.5722C= (p.Pro1908=)
c.5785C= (p.Pro1929=)
c.5782C= (p.Pro1928=)
c.5728C= (p.Pro1910=)
c.5653C= (p.Pro1885=)
c.5248C= (p.Pro1750=)
c.4606C= (p.Pro1536=)
c.2116C= (p.Pro706=)
n.6031C=
10g.71784981C>GCA377146702CDH23c.5593C>G (p.Pro1865Ala)
c.5608C>G (p.Pro1870Ala)
c.5788C>G (p.Pro1930Ala)
c.5722C>G (p.Pro1908Ala)
c.5785C>G (p.Pro1929Ala)
c.5782C>G (p.Pro1928Ala)
c.5728C>G (p.Pro1910Ala)
c.5653C>G (p.Pro1885Ala)
c.5248C>G (p.Pro1750Ala)
c.4606C>G (p.Pro1536Ala)
c.2116C>G (p.Pro706Ala)
n.6031C>G
 dbSNP gnomAD v2 gnomAD v4
10g.71784981C>TCA377146701CDH23c.5593C>T (p.Pro1865Ser)
c.5608C>T (p.Pro1870Ser)
c.5788C>T (p.Pro1930Ser)
c.5722C>T (p.Pro1908Ser)
c.5785C>T (p.Pro1929Ser)
c.5782C>T (p.Pro1928Ser)
c.5728C>T (p.Pro1910Ser)
c.5653C>T (p.Pro1885Ser)
c.5248C>T (p.Pro1750Ser)
c.4606C>T (p.Pro1536Ser)
c.2116C>T (p.Pro706Ser)
n.6031C>T
10g.71784982C>ACA377146704CDH23c.5594C>A (p.Pro1865His)
c.5609C>A (p.Pro1870His)
c.5789C>A (p.Pro1930His)
c.5723C>A (p.Pro1908His)
c.5786C>A (p.Pro1929His)
c.5783C>A (p.Pro1928His)
c.5729C>A (p.Pro1910His)
c.5654C>A (p.Pro1885His)
c.5249C>A (p.Pro1750His)
c.4607C>A (p.Pro1536His)
c.2117C>A (p.Pro706His)
n.6032C>A
10g.71784982C=CA1918862303CDH23c.5594C= (p.Pro1865=)
c.5609C= (p.Pro1870=)
c.5789C= (p.Pro1930=)
c.5723C= (p.Pro1908=)
c.5786C= (p.Pro1929=)
c.5783C= (p.Pro1928=)
c.5729C= (p.Pro1910=)
c.5654C= (p.Pro1885=)
c.5249C= (p.Pro1750=)
c.4607C= (p.Pro1536=)
c.2117C= (p.Pro706=)
n.6032C=
10g.71784982C>GCA377146705CDH23c.5594C>G (p.Pro1865Arg)
c.5609C>G (p.Pro1870Arg)
c.5789C>G (p.Pro1930Arg)
c.5723C>G (p.Pro1908Arg)
c.5786C>G (p.Pro1929Arg)
c.5783C>G (p.Pro1928Arg)
c.5729C>G (p.Pro1910Arg)
c.5654C>G (p.Pro1885Arg)
c.5249C>G (p.Pro1750Arg)
c.4607C>G (p.Pro1536Arg)
c.2117C>G (p.Pro706Arg)
n.6032C>G
10g.71784982C>TCA377146706CDH23c.5594C>T (p.Pro1865Leu)
c.5609C>T (p.Pro1870Leu)
c.5789C>T (p.Pro1930Leu)
c.5723C>T (p.Pro1908Leu)
c.5786C>T (p.Pro1929Leu)
c.5783C>T (p.Pro1928Leu)
c.5729C>T (p.Pro1910Leu)
c.5654C>T (p.Pro1885Leu)
c.5249C>T (p.Pro1750Leu)
c.4607C>T (p.Pro1536Leu)
c.2117C>T (p.Pro706Leu)
n.6032C>T
 dbSNP gnomAD v2 gnomAD v4
10g.71784982_71784983delCA912970381CDH23c.5594_5595del (p.Pro1865ArgfsTer12)
c.5609_5610del (p.Pro1870ArgfsTer12)
c.5789_5790del (p.Pro1930ArgfsTer12)
c.5723_5724del (p.Pro1908ArgfsTer12)
c.5786_5787del (p.Pro1929ArgfsTer12)
c.5783_5784del (p.Pro1928ArgfsTer12)
c.5729_5730del (p.Pro1910ArgfsTer12)
c.5654_5655del (p.Pro1885ArgfsTer12)
c.5249_5250del (p.Pro1750ArgfsTer12)
c.4607_4608del (p.Pro1536ArgfsTer12)
c.2117_2118del (p.Pro706ArgfsTer12)
n.6032_6033del
10g.71784983T>ACA470060736CDH23c.5595T>A (p.Pro1865=)
c.5610T>A (p.Pro1870=)
c.5790T>A (p.Pro1930=)
c.5724T>A (p.Pro1908=)
c.5787T>A (p.Pro1929=)
c.5784T>A (p.Pro1928=)
c.5730T>A (p.Pro1910=)
c.5655T>A (p.Pro1885=)
c.5250T>A (p.Pro1750=)
c.4608T>A (p.Pro1536=)
c.2118T>A (p.Pro706=)
n.6033T>A
 dbSNP gnomAD v2 gnomAD v4
10g.71784983T>CCA470060737CDH23c.5595T>C (p.Pro1865=)
c.5610T>C (p.Pro1870=)
c.5790T>C (p.Pro1930=)
c.5724T>C (p.Pro1908=)
c.5787T>C (p.Pro1929=)
c.5784T>C (p.Pro1928=)
c.5730T>C (p.Pro1910=)
c.5655T>C (p.Pro1885=)
c.5250T>C (p.Pro1750=)
c.4608T>C (p.Pro1536=)
c.2118T>C (p.Pro706=)
n.6033T>C
 ClinVar dbSNP
10g.71784983T>GCA470060738CDH23c.5595T>G (p.Pro1865=)
c.5610T>G (p.Pro1870=)
c.5790T>G (p.Pro1930=)
c.5724T>G (p.Pro1908=)
c.5787T>G (p.Pro1929=)
c.5784T>G (p.Pro1928=)
c.5730T>G (p.Pro1910=)
c.5655T>G (p.Pro1885=)
c.5250T>G (p.Pro1750=)
c.4608T>G (p.Pro1536=)
c.2118T>G (p.Pro706=)
n.6033T>G
10g.71784983T=CA1918862305CDH23c.5595T= (p.Pro1865=)
c.5610T= (p.Pro1870=)
c.5790T= (p.Pro1930=)
c.5724T= (p.Pro1908=)
c.5787T= (p.Pro1929=)
c.5784T= (p.Pro1928=)
c.5730T= (p.Pro1910=)
c.5655T= (p.Pro1885=)
c.5250T= (p.Pro1750=)
c.4608T= (p.Pro1536=)
c.2118T= (p.Pro706=)
n.6033T=
10g.71784984G>ACA377146708CDH23c.5596G>A (p.Val1866Ile)
c.5611G>A (p.Val1871Ile)
c.5791G>A (p.Val1931Ile)
c.5725G>A (p.Val1909Ile)
c.5788G>A (p.Val1930Ile)
c.5785G>A (p.Val1929Ile)
c.5731G>A (p.Val1911Ile)
c.5656G>A (p.Val1886Ile)
c.5251G>A (p.Val1751Ile)
c.4609G>A (p.Val1537Ile)
c.2119G>A (p.Val707Ile)
n.6034G>A
 dbSNP
10g.71784984G>CCA377146709CDH23c.5596G>C (p.Val1866Leu)
c.5611G>C (p.Val1871Leu)
c.5791G>C (p.Val1931Leu)
c.5725G>C (p.Val1909Leu)
c.5788G>C (p.Val1930Leu)
c.5785G>C (p.Val1929Leu)
c.5731G>C (p.Val1911Leu)
c.5656G>C (p.Val1886Leu)
c.5251G>C (p.Val1751Leu)
c.4609G>C (p.Val1537Leu)
c.2119G>C (p.Val707Leu)
n.6034G>C
 gnomAD v4
10g.71784984G>TCA377146711CDH23c.5596G>T (p.Val1866Phe)
c.5611G>T (p.Val1871Phe)
c.5791G>T (p.Val1931Phe)
c.5725G>T (p.Val1909Phe)
c.5788G>T (p.Val1930Phe)
c.5785G>T (p.Val1929Phe)
c.5731G>T (p.Val1911Phe)
c.5656G>T (p.Val1886Phe)
c.5251G>T (p.Val1751Phe)
c.4609G>T (p.Val1537Phe)
c.2119G>T (p.Val707Phe)
n.6034G>T
10g.71784985T>ACA377146713CDH23c.5597T>A (p.Val1866Asp)
c.5612T>A (p.Val1871Asp)
c.5792T>A (p.Val1931Asp)
c.5726T>A (p.Val1909Asp)
c.5789T>A (p.Val1930Asp)
c.5786T>A (p.Val1929Asp)
c.5732T>A (p.Val1911Asp)
c.5657T>A (p.Val1886Asp)
c.5252T>A (p.Val1751Asp)
c.4610T>A (p.Val1537Asp)
c.2120T>A (p.Val707Asp)
n.6035T>A
10g.71784985T>CCA377146714CDH23c.5597T>C (p.Val1866Ala)
c.5612T>C (p.Val1871Ala)
c.5792T>C (p.Val1931Ala)
c.5726T>C (p.Val1909Ala)
c.5789T>C (p.Val1930Ala)
c.5786T>C (p.Val1929Ala)
c.5732T>C (p.Val1911Ala)
c.5657T>C (p.Val1886Ala)
c.5252T>C (p.Val1751Ala)
c.4610T>C (p.Val1537Ala)
c.2120T>C (p.Val707Ala)
n.6035T>C
10g.71784985T>GCA377146716CDH23c.5597T>G (p.Val1866Gly)
c.5612T>G (p.Val1871Gly)
c.5792T>G (p.Val1931Gly)
c.5726T>G (p.Val1909Gly)
c.5789T>G (p.Val1930Gly)
c.5786T>G (p.Val1929Gly)
c.5732T>G (p.Val1911Gly)
c.5657T>G (p.Val1886Gly)
c.5252T>G (p.Val1751Gly)
c.4610T>G (p.Val1537Gly)
c.2120T>G (p.Val707Gly)
n.6035T>G
10g.71784986C>ACA470060739CDH23c.5598C>A (p.Val1866=)
c.5613C>A (p.Val1871=)
c.5793C>A (p.Val1931=)
c.5727C>A (p.Val1909=)
c.5790C>A (p.Val1930=)
c.5787C>A (p.Val1929=)
c.5733C>A (p.Val1911=)
c.5658C>A (p.Val1886=)
c.5253C>A (p.Val1751=)
c.4611C>A (p.Val1537=)
c.2121C>A (p.Val707=)
n.6036C>A
 dbSNP
10g.71784986C>GCA470060740CDH23c.5598C>G (p.Val1866=)
c.5613C>G (p.Val1871=)
c.5793C>G (p.Val1931=)
c.5727C>G (p.Val1909=)
c.5790C>G (p.Val1930=)
c.5787C>G (p.Val1929=)
c.5733C>G (p.Val1911=)
c.5658C>G (p.Val1886=)
c.5253C>G (p.Val1751=)
c.4611C>G (p.Val1537=)
c.2121C>G (p.Val707=)
n.6036C>G
10g.71784986C>TCA470060741CDH23c.5598C>T (p.Val1866=)
c.5613C>T (p.Val1871=)
c.5793C>T (p.Val1931=)
c.5727C>T (p.Val1909=)
c.5790C>T (p.Val1930=)
c.5787C>T (p.Val1929=)
c.5733C>T (p.Val1911=)
c.5658C>T (p.Val1886=)
c.5253C>T (p.Val1751=)
c.4611C>T (p.Val1537=)
c.2121C>T (p.Val707=)
n.6036C>T
 gnomAD v4
10g.71784987T>ACA377146717CDH23c.5599T>A (p.Ser1867Thr)
c.5614T>A (p.Ser1872Thr)
c.5794T>A (p.Ser1932Thr)
c.5728T>A (p.Ser1910Thr)
c.5791T>A (p.Ser1931Thr)
c.5788T>A (p.Ser1930Thr)
c.5734T>A (p.Ser1912Thr)
c.5659T>A (p.Ser1887Thr)
c.5254T>A (p.Ser1752Thr)
c.4612T>A (p.Ser1538Thr)
c.2122T>A (p.Ser708Thr)
n.6037T>A
10g.71784987T>CCA377146718CDH23c.5599T>C (p.Ser1867Pro)
c.5614T>C (p.Ser1872Pro)
c.5794T>C (p.Ser1932Pro)
c.5728T>C (p.Ser1910Pro)
c.5791T>C (p.Ser1931Pro)
c.5788T>C (p.Ser1930Pro)
c.5734T>C (p.Ser1912Pro)
c.5659T>C (p.Ser1887Pro)
c.5254T>C (p.Ser1752Pro)
c.4612T>C (p.Ser1538Pro)
c.2122T>C (p.Ser708Pro)
n.6037T>C
10g.71784987T>GCA377146720CDH23c.5599T>G (p.Ser1867Ala)
c.5614T>G (p.Ser1872Ala)
c.5794T>G (p.Ser1932Ala)
c.5728T>G (p.Ser1910Ala)
c.5791T>G (p.Ser1931Ala)
c.5788T>G (p.Ser1930Ala)
c.5734T>G (p.Ser1912Ala)
c.5659T>G (p.Ser1887Ala)
c.5254T>G (p.Ser1752Ala)
c.4612T>G (p.Ser1538Ala)
c.2122T>G (p.Ser708Ala)
n.6037T>G
10g.71784988C>ACA377146725CDH23c.5600C>A (p.Ser1867Tyr)
c.5615C>A (p.Ser1872Tyr)
c.5795C>A (p.Ser1932Tyr)
c.5729C>A (p.Ser1910Tyr)
c.5792C>A (p.Ser1931Tyr)
c.5789C>A (p.Ser1930Tyr)
c.5735C>A (p.Ser1912Tyr)
c.5660C>A (p.Ser1887Tyr)
c.5255C>A (p.Ser1752Tyr)
c.4613C>A (p.Ser1538Tyr)
c.2123C>A (p.Ser708Tyr)
n.6038C>A
 gnomAD v4
10g.71784988C>GCA377146722CDH23c.5600C>G (p.Ser1867Cys)
c.5615C>G (p.Ser1872Cys)
c.5795C>G (p.Ser1932Cys)
c.5729C>G (p.Ser1910Cys)
c.5792C>G (p.Ser1931Cys)
c.5789C>G (p.Ser1930Cys)
c.5735C>G (p.Ser1912Cys)
c.5660C>G (p.Ser1887Cys)
c.5255C>G (p.Ser1752Cys)
c.4613C>G (p.Ser1538Cys)
c.2123C>G (p.Ser708Cys)
n.6038C>G
10g.71784988C>TCA377146724CDH23c.5600C>T (p.Ser1867Phe)
c.5615C>T (p.Ser1872Phe)
c.5795C>T (p.Ser1932Phe)
c.5729C>T (p.Ser1910Phe)
c.5792C>T (p.Ser1931Phe)
c.5789C>T (p.Ser1930Phe)
c.5735C>T (p.Ser1912Phe)
c.5660C>T (p.Ser1887Phe)
c.5255C>T (p.Ser1752Phe)
c.4613C>T (p.Ser1538Phe)
c.2123C>T (p.Ser708Phe)
n.6038C>T
10g.71784989C>ACA470060742CDH23c.5601C>A (p.Ser1867=)
c.5616C>A (p.Ser1872=)
c.5796C>A (p.Ser1932=)
c.5730C>A (p.Ser1910=)
c.5793C>A (p.Ser1931=)
c.5790C>A (p.Ser1930=)
c.5736C>A (p.Ser1912=)
c.5661C>A (p.Ser1887=)
c.5256C>A (p.Ser1752=)
c.4614C>A (p.Ser1538=)
c.2124C>A (p.Ser708=)
n.6039C>A
10g.71784989C>GCA470060743CDH23c.5601C>G (p.Ser1867=)
c.5616C>G (p.Ser1872=)
c.5796C>G (p.Ser1932=)
c.5730C>G (p.Ser1910=)
c.5793C>G (p.Ser1931=)
c.5790C>G (p.Ser1930=)
c.5736C>G (p.Ser1912=)
c.5661C>G (p.Ser1887=)
c.5256C>G (p.Ser1752=)
c.4614C>G (p.Ser1538=)
c.2124C>G (p.Ser708=)
n.6039C>G
10g.71784989C>TCA470060744CDH23c.5601C>T (p.Ser1867=)
c.5616C>T (p.Ser1872=)
c.5796C>T (p.Ser1932=)
c.5730C>T (p.Ser1910=)
c.5793C>T (p.Ser1931=)
c.5790C>T (p.Ser1930=)
c.5736C>T (p.Ser1912=)
c.5661C>T (p.Ser1887=)
c.5256C>T (p.Ser1752=)
c.4614C>T (p.Ser1538=)
c.2124C>T (p.Ser708=)
n.6039C>T
10g.71784990A>CCA377146726CDH23c.5602A>C (p.Ser1868Arg)
c.5617A>C (p.Ser1873Arg)
c.5797A>C (p.Ser1933Arg)
c.5731A>C (p.Ser1911Arg)
c.5794A>C (p.Ser1932Arg)
c.5791A>C (p.Ser1931Arg)
c.5737A>C (p.Ser1913Arg)
c.5662A>C (p.Ser1888Arg)
c.5257A>C (p.Ser1753Arg)
c.4615A>C (p.Ser1539Arg)
c.2125A>C (p.Ser709Arg)
n.6040A>C
10g.71784990A>GCA377146727CDH23c.5602A>G (p.Ser1868Gly)
c.5617A>G (p.Ser1873Gly)
c.5797A>G (p.Ser1933Gly)
c.5731A>G (p.Ser1911Gly)
c.5794A>G (p.Ser1932Gly)
c.5791A>G (p.Ser1931Gly)
c.5737A>G (p.Ser1913Gly)
c.5662A>G (p.Ser1888Gly)
c.5257A>G (p.Ser1753Gly)
c.4615A>G (p.Ser1539Gly)
c.2125A>G (p.Ser709Gly)
n.6040A>G
10g.71784990A>TCA377146728CDH23c.5602A>T (p.Ser1868Cys)
c.5617A>T (p.Ser1873Cys)
c.5797A>T (p.Ser1933Cys)
c.5731A>T (p.Ser1911Cys)
c.5794A>T (p.Ser1932Cys)
c.5791A>T (p.Ser1931Cys)
c.5737A>T (p.Ser1913Cys)
c.5662A>T (p.Ser1888Cys)
c.5257A>T (p.Ser1753Cys)
c.4615A>T (p.Ser1539Cys)
c.2125A>T (p.Ser709Cys)
n.6040A>T
10g.71784991G>ACA377146730CDH23c.5603G>A (p.Ser1868Asn)
c.5618G>A (p.Ser1873Asn)
c.5798G>A (p.Ser1933Asn)
c.5732G>A (p.Ser1911Asn)
c.5795G>A (p.Ser1932Asn)
c.5792G>A (p.Ser1931Asn)
c.5738G>A (p.Ser1913Asn)
c.5663G>A (p.Ser1888Asn)
c.5258G>A (p.Ser1753Asn)
c.4616G>A (p.Ser1539Asn)
c.2126G>A (p.Ser709Asn)
n.6041G>A
10g.71784991G>CCA377146732CDH23c.5603G>C (p.Ser1868Thr)
c.5618G>C (p.Ser1873Thr)
c.5798G>C (p.Ser1933Thr)
c.5732G>C (p.Ser1911Thr)
c.5795G>C (p.Ser1932Thr)
c.5792G>C (p.Ser1931Thr)
c.5738G>C (p.Ser1913Thr)
c.5663G>C (p.Ser1888Thr)
c.5258G>C (p.Ser1753Thr)
c.4616G>C (p.Ser1539Thr)
c.2126G>C (p.Ser709Thr)
n.6041G>C
10g.71784991G>TCA377146733CDH23c.5603G>T (p.Ser1868Ile)
c.5618G>T (p.Ser1873Ile)
c.5798G>T (p.Ser1933Ile)
c.5732G>T (p.Ser1911Ile)
c.5795G>T (p.Ser1932Ile)
c.5792G>T (p.Ser1931Ile)
c.5738G>T (p.Ser1913Ile)
c.5663G>T (p.Ser1888Ile)
c.5258G>T (p.Ser1753Ile)
c.4616G>T (p.Ser1539Ile)
c.2126G>T (p.Ser709Ile)
n.6041G>T
10g.71784992C>ACA377146735CDH23c.5604C>A (p.Ser1868Arg)
c.5619C>A (p.Ser1873Arg)
c.5799C>A (p.Ser1933Arg)
c.5733C>A (p.Ser1911Arg)
c.5796C>A (p.Ser1932Arg)
c.5793C>A (p.Ser1931Arg)
c.5739C>A (p.Ser1913Arg)
c.5664C>A (p.Ser1888Arg)
c.5259C>A (p.Ser1753Arg)
c.4617C>A (p.Ser1539Arg)
c.2127C>A (p.Ser709Arg)
n.6042C>A
 gnomAD v4
10g.71784992C=CA1918862309CDH23c.5604C= (p.Ser1868=)
c.5619C= (p.Ser1873=)
c.5799C= (p.Ser1933=)
c.5733C= (p.Ser1911=)
c.5796C= (p.Ser1932=)
c.5793C= (p.Ser1931=)
c.5739C= (p.Ser1913=)
c.5664C= (p.Ser1888=)
c.5259C= (p.Ser1753=)
c.4617C= (p.Ser1539=)
c.2127C= (p.Ser709=)
n.6042C=
10g.71784992C>GCA377146737CDH23c.5604C>G (p.Ser1868Arg)
c.5619C>G (p.Ser1873Arg)
c.5799C>G (p.Ser1933Arg)
c.5733C>G (p.Ser1911Arg)
c.5796C>G (p.Ser1932Arg)
c.5793C>G (p.Ser1931Arg)
c.5739C>G (p.Ser1913Arg)
c.5664C>G (p.Ser1888Arg)
c.5259C>G (p.Ser1753Arg)
c.4617C>G (p.Ser1539Arg)
c.2127C>G (p.Ser709Arg)
n.6042C>G
10g.71784992C>TCA470060745CDH23c.5604C>T (p.Ser1868=)
c.5619C>T (p.Ser1873=)
c.5799C>T (p.Ser1933=)
c.5733C>T (p.Ser1911=)
c.5796C>T (p.Ser1932=)
c.5793C>T (p.Ser1931=)
c.5739C>T (p.Ser1913=)
c.5664C>T (p.Ser1888=)
c.5259C>T (p.Ser1753=)
c.4617C>T (p.Ser1539=)
c.2127C>T (p.Ser709=)
n.6042C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71784993T>ACA377146738CDH23c.5605T>A (p.Phe1869Ile)
c.5620T>A (p.Phe1874Ile)
c.5800T>A (p.Phe1934Ile)
c.5734T>A (p.Phe1912Ile)
c.5797T>A (p.Phe1933Ile)
c.5794T>A (p.Phe1932Ile)
c.5740T>A (p.Phe1914Ile)
c.5665T>A (p.Phe1889Ile)
c.5260T>A (p.Phe1754Ile)
c.4618T>A (p.Phe1540Ile)
c.2128T>A (p.Phe710Ile)
n.6043T>A
10g.71784993T>CCA377146739CDH23c.5605T>C (p.Phe1869Leu)
c.5620T>C (p.Phe1874Leu)
c.5800T>C (p.Phe1934Leu)
c.5734T>C (p.Phe1912Leu)
c.5797T>C (p.Phe1933Leu)
c.5794T>C (p.Phe1932Leu)
c.5740T>C (p.Phe1914Leu)
c.5665T>C (p.Phe1889Leu)
c.5260T>C (p.Phe1754Leu)
c.4618T>C (p.Phe1540Leu)
c.2128T>C (p.Phe710Leu)
n.6043T>C
10g.71784993T>GCA377146741CDH23c.5605T>G (p.Phe1869Val)
c.5620T>G (p.Phe1874Val)
c.5800T>G (p.Phe1934Val)
c.5734T>G (p.Phe1912Val)
c.5797T>G (p.Phe1933Val)
c.5794T>G (p.Phe1932Val)
c.5740T>G (p.Phe1914Val)
c.5665T>G (p.Phe1889Val)
c.5260T>G (p.Phe1754Val)
c.4618T>G (p.Phe1540Val)
c.2128T>G (p.Phe710Val)
n.6043T>G
10g.71784994T>ACA377146744CDH23c.5606T>A (p.Phe1869Tyr)
c.5621T>A (p.Phe1874Tyr)
c.5801T>A (p.Phe1934Tyr)
c.5735T>A (p.Phe1912Tyr)
c.5798T>A (p.Phe1933Tyr)
c.5795T>A (p.Phe1932Tyr)
c.5741T>A (p.Phe1914Tyr)
c.5666T>A (p.Phe1889Tyr)
c.5261T>A (p.Phe1754Tyr)
c.4619T>A (p.Phe1540Tyr)
c.2129T>A (p.Phe710Tyr)
n.6044T>A
10g.71784994T>CCA377146745CDH23c.5606T>C (p.Phe1869Ser)
c.5621T>C (p.Phe1874Ser)
c.5801T>C (p.Phe1934Ser)
c.5735T>C (p.Phe1912Ser)
c.5798T>C (p.Phe1933Ser)
c.5795T>C (p.Phe1932Ser)
c.5741T>C (p.Phe1914Ser)
c.5666T>C (p.Phe1889Ser)
c.5261T>C (p.Phe1754Ser)
c.4619T>C (p.Phe1540Ser)
c.2129T>C (p.Phe710Ser)
n.6044T>C
10g.71784994T>GCA377146743CDH23c.5606T>G (p.Phe1869Cys)
c.5621T>G (p.Phe1874Cys)
c.5801T>G (p.Phe1934Cys)
c.5735T>G (p.Phe1912Cys)
c.5798T>G (p.Phe1933Cys)
c.5795T>G (p.Phe1932Cys)
c.5741T>G (p.Phe1914Cys)
c.5666T>G (p.Phe1889Cys)
c.5261T>G (p.Phe1754Cys)
c.4619T>G (p.Phe1540Cys)
c.2129T>G (p.Phe710Cys)
n.6044T>G
10g.71784995T>ACA377146747CDH23c.5607T>A (p.Phe1869Leu)
c.5622T>A (p.Phe1874Leu)
c.5802T>A (p.Phe1934Leu)
c.5736T>A (p.Phe1912Leu)
c.5799T>A (p.Phe1933Leu)
c.5796T>A (p.Phe1932Leu)
c.5742T>A (p.Phe1914Leu)
c.5667T>A (p.Phe1889Leu)
c.5262T>A (p.Phe1754Leu)
c.4620T>A (p.Phe1540Leu)
c.2130T>A (p.Phe710Leu)
n.6045T>A
10g.71784995T>CCA470060746CDH23c.5607T>C (p.Phe1869=)
c.5622T>C (p.Phe1874=)
c.5802T>C (p.Phe1934=)
c.5736T>C (p.Phe1912=)
c.5799T>C (p.Phe1933=)
c.5796T>C (p.Phe1932=)
c.5742T>C (p.Phe1914=)
c.5667T>C (p.Phe1889=)
c.5262T>C (p.Phe1754=)
c.4620T>C (p.Phe1540=)
c.2130T>C (p.Phe710=)
n.6045T>C
10g.71784995T>GCA377146749CDH23c.5607T>G (p.Phe1869Leu)
c.5622T>G (p.Phe1874Leu)
c.5802T>G (p.Phe1934Leu)
c.5736T>G (p.Phe1912Leu)
c.5799T>G (p.Phe1933Leu)
c.5796T>G (p.Phe1932Leu)
c.5742T>G (p.Phe1914Leu)
c.5667T>G (p.Phe1889Leu)
c.5262T>G (p.Phe1754Leu)
c.4620T>G (p.Phe1540Leu)
c.2130T>G (p.Phe710Leu)
n.6045T>G
10g.71784996G>ACA377146750CDH23c.5608G>A (p.Val1870Ile)
c.5623G>A (p.Val1875Ile)
c.5803G>A (p.Val1935Ile)
c.5737G>A (p.Val1913Ile)
c.5800G>A (p.Val1934Ile)
c.5797G>A (p.Val1933Ile)
c.5743G>A (p.Val1915Ile)
c.5668G>A (p.Val1890Ile)
c.5263G>A (p.Val1755Ile)
c.4621G>A (p.Val1541Ile)
c.2131G>A (p.Val711Ile)
n.6046G>A
 dbSNP
10g.71784996G>CCA377146752CDH23c.5608G>C (p.Val1870Leu)
c.5623G>C (p.Val1875Leu)
c.5803G>C (p.Val1935Leu)
c.5737G>C (p.Val1913Leu)
c.5800G>C (p.Val1934Leu)
c.5797G>C (p.Val1933Leu)
c.5743G>C (p.Val1915Leu)
c.5668G>C (p.Val1890Leu)
c.5263G>C (p.Val1755Leu)
c.4621G>C (p.Val1541Leu)
c.2131G>C (p.Val711Leu)
n.6046G>C
 dbSNP
10g.71784996G=CA1918862315CDH23c.5608G= (p.Val1870=)
c.5623G= (p.Val1875=)
c.5803G= (p.Val1935=)
c.5737G= (p.Val1913=)
c.5800G= (p.Val1934=)
c.5797G= (p.Val1933=)
c.5743G= (p.Val1915=)
c.5668G= (p.Val1890=)
c.5263G= (p.Val1755=)
c.4621G= (p.Val1541=)
c.2131G= (p.Val711=)
n.6046G=
10g.71784996G>TCA377146753CDH23c.5608G>T (p.Val1870Phe)
c.5623G>T (p.Val1875Phe)
c.5803G>T (p.Val1935Phe)
c.5737G>T (p.Val1913Phe)
c.5800G>T (p.Val1934Phe)
c.5797G>T (p.Val1933Phe)
c.5743G>T (p.Val1915Phe)
c.5668G>T (p.Val1890Phe)
c.5263G>T (p.Val1755Phe)
c.4621G>T (p.Val1541Phe)
c.2131G>T (p.Val711Phe)
n.6046G>T
10g.71784997T>ACA377146755CDH23c.5609T>A (p.Val1870Asp)
c.5624T>A (p.Val1875Asp)
c.5804T>A (p.Val1935Asp)
c.5738T>A (p.Val1913Asp)
c.5801T>A (p.Val1934Asp)
c.5798T>A (p.Val1933Asp)
c.5744T>A (p.Val1915Asp)
c.5669T>A (p.Val1890Asp)
c.5264T>A (p.Val1755Asp)
c.4622T>A (p.Val1541Asp)
c.2132T>A (p.Val711Asp)
n.6047T>A
10g.71784997T>CCA377146756CDH23c.5609T>C (p.Val1870Ala)
c.5624T>C (p.Val1875Ala)
c.5804T>C (p.Val1935Ala)
c.5738T>C (p.Val1913Ala)
c.5801T>C (p.Val1934Ala)
c.5798T>C (p.Val1933Ala)
c.5744T>C (p.Val1915Ala)
c.5669T>C (p.Val1890Ala)
c.5264T>C (p.Val1755Ala)
c.4622T>C (p.Val1541Ala)
c.2132T>C (p.Val711Ala)
n.6047T>C
 gnomAD v4
10g.71784997T>GCA377146757CDH23c.5609T>G (p.Val1870Gly)
c.5624T>G (p.Val1875Gly)
c.5804T>G (p.Val1935Gly)
c.5738T>G (p.Val1913Gly)
c.5801T>G (p.Val1934Gly)
c.5798T>G (p.Val1933Gly)
c.5744T>G (p.Val1915Gly)
c.5669T>G (p.Val1890Gly)
c.5264T>G (p.Val1755Gly)
c.4622T>G (p.Val1541Gly)
c.2132T>G (p.Val711Gly)
n.6047T>G
10g.71784998C>ACA470060747CDH23c.5610C>A (p.Val1870=)
c.5625C>A (p.Val1875=)
c.5805C>A (p.Val1935=)
c.5739C>A (p.Val1913=)
c.5802C>A (p.Val1934=)
c.5799C>A (p.Val1933=)
c.5745C>A (p.Val1915=)
c.5670C>A (p.Val1890=)
c.5265C>A (p.Val1755=)
c.4623C>A (p.Val1541=)
c.2133C>A (p.Val711=)
n.6048C>A
 ClinVar gnomAD v4
10g.71784998C=CA1918862320CDH23c.5610C= (p.Val1870=)
c.5625C= (p.Val1875=)
c.5805C= (p.Val1935=)
c.5739C= (p.Val1913=)
c.5802C= (p.Val1934=)
c.5799C= (p.Val1933=)
c.5745C= (p.Val1915=)
c.5670C= (p.Val1890=)
c.5265C= (p.Val1755=)
c.4623C= (p.Val1541=)
c.2133C= (p.Val711=)
n.6048C=
10g.71784998C>GCA470060748CDH23c.5610C>G (p.Val1870=)
c.5625C>G (p.Val1875=)
c.5805C>G (p.Val1935=)
c.5739C>G (p.Val1913=)
c.5802C>G (p.Val1934=)
c.5799C>G (p.Val1933=)
c.5745C>G (p.Val1915=)
c.5670C>G (p.Val1890=)
c.5265C>G (p.Val1755=)
c.4623C>G (p.Val1541=)
c.2133C>G (p.Val711=)
n.6048C>G
 ClinVar
10g.71784998C>TCA5545814CDH23c.5610C>T (p.Val1870=)
c.5625C>T (p.Val1875=)
c.5805C>T (p.Val1935=)
c.5739C>T (p.Val1913=)
c.5802C>T (p.Val1934=)
c.5799C>T (p.Val1933=)
c.5745C>T (p.Val1915=)
c.5670C>T (p.Val1890=)
c.5265C>T (p.Val1755=)
c.4623C>T (p.Val1541=)
c.2133C>T (p.Val711=)
n.6048C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784999G>ACA5545815CDH23c.5611G>A (p.Ala1871Thr)
c.5626G>A (p.Ala1876Thr)
c.5806G>A (p.Ala1936Thr)
c.5740G>A (p.Ala1914Thr)
c.5803G>A (p.Ala1935Thr)
c.5800G>A (p.Ala1934Thr)
c.5746G>A (p.Ala1916Thr)
c.5671G>A (p.Ala1891Thr)
c.5266G>A (p.Ala1756Thr)
c.4624G>A (p.Ala1542Thr)
c.2134G>A (p.Ala712Thr)
n.6049G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71784999G>CCA377146759CDH23c.5611G>C (p.Ala1871Pro)
c.5626G>C (p.Ala1876Pro)
c.5806G>C (p.Ala1936Pro)
c.5740G>C (p.Ala1914Pro)
c.5803G>C (p.Ala1935Pro)
c.5800G>C (p.Ala1934Pro)
c.5746G>C (p.Ala1916Pro)
c.5671G>C (p.Ala1891Pro)
c.5266G>C (p.Ala1756Pro)
c.4624G>C (p.Ala1542Pro)
c.2134G>C (p.Ala712Pro)
n.6049G>C
10g.71784999G=CA1918862325CDH23c.5611G= (p.Ala1871=)
c.5626G= (p.Ala1876=)
c.5806G= (p.Ala1936=)
c.5740G= (p.Ala1914=)
c.5803G= (p.Ala1935=)
c.5800G= (p.Ala1934=)
c.5746G= (p.Ala1916=)
c.5671G= (p.Ala1891=)
c.5266G= (p.Ala1756=)
c.4624G= (p.Ala1542=)
c.2134G= (p.Ala712=)
n.6049G=
10g.71784999G>TCA377146760CDH23c.5611G>T (p.Ala1871Ser)
c.5626G>T (p.Ala1876Ser)
c.5806G>T (p.Ala1936Ser)
c.5740G>T (p.Ala1914Ser)
c.5803G>T (p.Ala1935Ser)
c.5800G>T (p.Ala1934Ser)
c.5746G>T (p.Ala1916Ser)
c.5671G>T (p.Ala1891Ser)
c.5266G>T (p.Ala1756Ser)
c.4624G>T (p.Ala1542Ser)
c.2134G>T (p.Ala712Ser)
n.6049G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71785000C>ACA377146763CDH23c.5612C>A (p.Ala1871Asp)
c.5627C>A (p.Ala1876Asp)
c.5807C>A (p.Ala1936Asp)
c.5741C>A (p.Ala1914Asp)
c.5804C>A (p.Ala1935Asp)
c.5801C>A (p.Ala1934Asp)
c.5747C>A (p.Ala1916Asp)
c.5672C>A (p.Ala1891Asp)
c.5267C>A (p.Ala1756Asp)
c.4625C>A (p.Ala1542Asp)
c.2135C>A (p.Ala712Asp)
n.6050C>A
10g.71785000C>GCA377146764CDH23c.5612C>G (p.Ala1871Gly)
c.5627C>G (p.Ala1876Gly)
c.5807C>G (p.Ala1936Gly)
c.5741C>G (p.Ala1914Gly)
c.5804C>G (p.Ala1935Gly)
c.5801C>G (p.Ala1934Gly)
c.5747C>G (p.Ala1916Gly)
c.5672C>G (p.Ala1891Gly)
c.5267C>G (p.Ala1756Gly)
c.4625C>G (p.Ala1542Gly)
c.2135C>G (p.Ala712Gly)
n.6050C>G
10g.71785000C>TCA377146762CDH23c.5612C>T (p.Ala1871Val)
c.5627C>T (p.Ala1876Val)
c.5807C>T (p.Ala1936Val)
c.5741C>T (p.Ala1914Val)
c.5804C>T (p.Ala1935Val)
c.5801C>T (p.Ala1934Val)
c.5747C>T (p.Ala1916Val)
c.5672C>T (p.Ala1891Val)
c.5267C>T (p.Ala1756Val)
c.4625C>T (p.Ala1542Val)
c.2135C>T (p.Ala712Val)
n.6050C>T
 gnomAD v4
10g.71785001C>ACA470060749CDH23c.5613C>A (p.Ala1871=)
c.5628C>A (p.Ala1876=)
c.5808C>A (p.Ala1936=)
c.5742C>A (p.Ala1914=)
c.5805C>A (p.Ala1935=)
c.5802C>A (p.Ala1934=)
c.5748C>A (p.Ala1916=)
c.5673C>A (p.Ala1891=)
c.5268C>A (p.Ala1756=)
c.4626C>A (p.Ala1542=)
c.2136C>A (p.Ala712=)
n.6051C>A
10g.71785001C>GCA470060750CDH23c.5613C>G (p.Ala1871=)
c.5628C>G (p.Ala1876=)
c.5808C>G (p.Ala1936=)
c.5742C>G (p.Ala1914=)
c.5805C>G (p.Ala1935=)
c.5802C>G (p.Ala1934=)
c.5748C>G (p.Ala1916=)
c.5673C>G (p.Ala1891=)
c.5268C>G (p.Ala1756=)
c.4626C>G (p.Ala1542=)
c.2136C>G (p.Ala712=)
n.6051C>G
10g.71785001C>TCA470060751CDH23c.5613C>T (p.Ala1871=)
c.5628C>T (p.Ala1876=)
c.5808C>T (p.Ala1936=)
c.5742C>T (p.Ala1914=)
c.5805C>T (p.Ala1935=)
c.5802C>T (p.Ala1934=)
c.5748C>T (p.Ala1916=)
c.5673C>T (p.Ala1891=)
c.5268C>T (p.Ala1756=)
c.4626C>T (p.Ala1542=)
c.2136C>T (p.Ala712=)
n.6051C>T
10g.71785002C>ACA377146765CDH23c.5614C>A (p.His1872Asn)
c.5629C>A (p.His1877Asn)
c.5809C>A (p.His1937Asn)
c.5743C>A (p.His1915Asn)
c.5806C>A (p.His1936Asn)
c.5803C>A (p.His1935Asn)
c.5749C>A (p.His1917Asn)
c.5674C>A (p.His1892Asn)
c.5269C>A (p.His1757Asn)
c.4627C>A (p.His1543Asn)
c.2137C>A (p.His713Asn)
n.6052C>A
10g.71785002C=CA1918862333CDH23c.5614C= (p.His1872=)
c.5629C= (p.His1877=)
c.5809C= (p.His1937=)
c.5743C= (p.His1915=)
c.5806C= (p.His1936=)
c.5803C= (p.His1935=)
c.5749C= (p.His1917=)
c.5674C= (p.His1892=)
c.5269C= (p.His1757=)
c.4627C= (p.His1543=)
c.2137C= (p.His713=)
n.6052C=
10g.71785002C>GCA377146767CDH23c.5614C>G (p.His1872Asp)
c.5629C>G (p.His1877Asp)
c.5809C>G (p.His1937Asp)
c.5743C>G (p.His1915Asp)
c.5806C>G (p.His1936Asp)
c.5803C>G (p.His1935Asp)
c.5749C>G (p.His1917Asp)
c.5674C>G (p.His1892Asp)
c.5269C>G (p.His1757Asp)
c.4627C>G (p.His1543Asp)
c.2137C>G (p.His713Asp)
n.6052C>G
10g.71785002C>TCA5545816CDH23c.5614C>T (p.His1872Tyr)
c.5629C>T (p.His1877Tyr)
c.5809C>T (p.His1937Tyr)
c.5743C>T (p.His1915Tyr)
c.5806C>T (p.His1936Tyr)
c.5803C>T (p.His1935Tyr)
c.5749C>T (p.His1917Tyr)
c.5674C>T (p.His1892Tyr)
c.5269C>T (p.His1757Tyr)
c.4627C>T (p.His1543Tyr)
c.2137C>T (p.His713Tyr)
n.6052C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785003A=CA1918862336CDH23c.5615A= (p.His1872=)
c.5630A= (p.His1877=)
c.5810A= (p.His1937=)
c.5744A= (p.His1915=)
c.5807A= (p.His1936=)
c.5804A= (p.His1935=)
c.5750A= (p.His1917=)
c.5675A= (p.His1892=)
c.5270A= (p.His1757=)
c.4628A= (p.His1543=)
c.2138A= (p.His713=)
n.6053A=
10g.71785003A>CCA377146769CDH23c.5615A>C (p.His1872Pro)
c.5630A>C (p.His1877Pro)
c.5810A>C (p.His1937Pro)
c.5744A>C (p.His1915Pro)
c.5807A>C (p.His1936Pro)
c.5804A>C (p.His1935Pro)
c.5750A>C (p.His1917Pro)
c.5675A>C (p.His1892Pro)
c.5270A>C (p.His1757Pro)
c.4628A>C (p.His1543Pro)
c.2138A>C (p.His713Pro)
n.6053A>C
10g.71785003A>GCA5545817CDH23c.5615A>G (p.His1872Arg)
c.5630A>G (p.His1877Arg)
c.5810A>G (p.His1937Arg)
c.5744A>G (p.His1915Arg)
c.5807A>G (p.His1936Arg)
c.5804A>G (p.His1935Arg)
c.5750A>G (p.His1917Arg)
c.5675A>G (p.His1892Arg)
c.5270A>G (p.His1757Arg)
c.4628A>G (p.His1543Arg)
c.2138A>G (p.His713Arg)
n.6053A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785003A>TCA377146771CDH23c.5615A>T (p.His1872Leu)
c.5630A>T (p.His1877Leu)
c.5810A>T (p.His1937Leu)
c.5744A>T (p.His1915Leu)
c.5807A>T (p.His1936Leu)
c.5804A>T (p.His1935Leu)
c.5750A>T (p.His1917Leu)
c.5675A>T (p.His1892Leu)
c.5270A>T (p.His1757Leu)
c.4628A>T (p.His1543Leu)
c.2138A>T (p.His713Leu)
n.6053A>T
10g.71785004T>ACA377146775CDH23c.5616T>A (p.His1872Gln)
c.5631T>A (p.His1877Gln)
c.5811T>A (p.His1937Gln)
c.5745T>A (p.His1915Gln)
c.5808T>A (p.His1936Gln)
c.5805T>A (p.His1935Gln)
c.5751T>A (p.His1917Gln)
c.5676T>A (p.His1892Gln)
c.5271T>A (p.His1757Gln)
c.4629T>A (p.His1543Gln)
c.2139T>A (p.His713Gln)
n.6054T>A
10g.71785004T>CCA209457521CDH23c.5616T>C (p.His1872=)
c.5631T>C (p.His1877=)
c.5811T>C (p.His1937=)
c.5745T>C (p.His1915=)
c.5808T>C (p.His1936=)
c.5805T>C (p.His1935=)
c.5751T>C (p.His1917=)
c.5676T>C (p.His1892=)
c.5271T>C (p.His1757=)
c.4629T>C (p.His1543=)
c.2139T>C (p.His713=)
n.6054T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71785004T>GCA377146773CDH23c.5616T>G (p.His1872Gln)
c.5631T>G (p.His1877Gln)
c.5811T>G (p.His1937Gln)
c.5745T>G (p.His1915Gln)
c.5808T>G (p.His1936Gln)
c.5805T>G (p.His1935Gln)
c.5751T>G (p.His1917Gln)
c.5676T>G (p.His1892Gln)
c.5271T>G (p.His1757Gln)
c.4629T>G (p.His1543Gln)
c.2139T>G (p.His713Gln)
n.6054T>G
 gnomAD v4
10g.71785004T=CA1918862341CDH23c.5616T= (p.His1872=)
c.5631T= (p.His1877=)
c.5811T= (p.His1937=)
c.5745T= (p.His1915=)
c.5808T= (p.His1936=)
c.5805T= (p.His1935=)
c.5751T= (p.His1917=)
c.5676T= (p.His1892=)
c.5271T= (p.His1757=)
c.4629T= (p.His1543=)
c.2139T= (p.His713=)
n.6054T=
10g.71785005G>ACA377146776CDH23c.5617G>A (p.Val1873Ile)
c.5632G>A (p.Val1878Ile)
c.5812G>A (p.Val1938Ile)
c.5746G>A (p.Val1916Ile)
c.5809G>A (p.Val1937Ile)
c.5806G>A (p.Val1936Ile)
c.5752G>A (p.Val1918Ile)
c.5677G>A (p.Val1893Ile)
c.5272G>A (p.Val1758Ile)
c.4630G>A (p.Val1544Ile)
c.2140G>A (p.Val714Ile)
n.6055G>A
10g.71785005G>CCA377146777CDH23c.5617G>C (p.Val1873Leu)
c.5632G>C (p.Val1878Leu)
c.5812G>C (p.Val1938Leu)
c.5746G>C (p.Val1916Leu)
c.5809G>C (p.Val1937Leu)
c.5806G>C (p.Val1936Leu)
c.5752G>C (p.Val1918Leu)
c.5677G>C (p.Val1893Leu)
c.5272G>C (p.Val1758Leu)
c.4630G>C (p.Val1544Leu)
c.2140G>C (p.Val714Leu)
n.6055G>C
10g.71785005G>TCA377146778CDH23c.5617G>T (p.Val1873Phe)
c.5632G>T (p.Val1878Phe)
c.5812G>T (p.Val1938Phe)
c.5746G>T (p.Val1916Phe)
c.5809G>T (p.Val1937Phe)
c.5806G>T (p.Val1936Phe)
c.5752G>T (p.Val1918Phe)
c.5677G>T (p.Val1893Phe)
c.5272G>T (p.Val1758Phe)
c.4630G>T (p.Val1544Phe)
c.2140G>T (p.Val714Phe)
n.6055G>T
10g.71785006T>ACA377146780CDH23c.5618T>A (p.Val1873Asp)
c.5633T>A (p.Val1878Asp)
c.5813T>A (p.Val1938Asp)
c.5747T>A (p.Val1916Asp)
c.5810T>A (p.Val1937Asp)
c.5807T>A (p.Val1936Asp)
c.5753T>A (p.Val1918Asp)
c.5678T>A (p.Val1893Asp)
c.5273T>A (p.Val1758Asp)
c.4631T>A (p.Val1544Asp)
c.2141T>A (p.Val714Asp)
n.6056T>A
10g.71785006T>CCA377146781CDH23c.5618T>C (p.Val1873Ala)
c.5633T>C (p.Val1878Ala)
c.5813T>C (p.Val1938Ala)
c.5747T>C (p.Val1916Ala)
c.5810T>C (p.Val1937Ala)
c.5807T>C (p.Val1936Ala)
c.5753T>C (p.Val1918Ala)
c.5678T>C (p.Val1893Ala)
c.5273T>C (p.Val1758Ala)
c.4631T>C (p.Val1544Ala)
c.2141T>C (p.Val714Ala)
n.6056T>C
 dbSNP gnomAD v3 gnomAD v4
10g.71785006T>GCA377146783CDH23c.5618T>G (p.Val1873Gly)
c.5633T>G (p.Val1878Gly)
c.5813T>G (p.Val1938Gly)
c.5747T>G (p.Val1916Gly)
c.5810T>G (p.Val1937Gly)
c.5807T>G (p.Val1936Gly)
c.5753T>G (p.Val1918Gly)
c.5678T>G (p.Val1893Gly)
c.5273T>G (p.Val1758Gly)
c.4631T>G (p.Val1544Gly)
c.2141T>G (p.Val714Gly)
n.6056T>G
10g.71785006T=CA1918862344CDH23c.5618T= (p.Val1873=)
c.5633T= (p.Val1878=)
c.5813T= (p.Val1938=)
c.5747T= (p.Val1916=)
c.5810T= (p.Val1937=)
c.5807T= (p.Val1936=)
c.5753T= (p.Val1918=)
c.5678T= (p.Val1893=)
c.5273T= (p.Val1758=)
c.4631T= (p.Val1544=)
c.2141T= (p.Val714=)
n.6056T=
10g.71785007C>ACA470060752CDH23c.5619C>A (p.Val1873=)
c.5634C>A (p.Val1878=)
c.5814C>A (p.Val1938=)
c.5748C>A (p.Val1916=)
c.5811C>A (p.Val1937=)
c.5808C>A (p.Val1936=)
c.5754C>A (p.Val1918=)
c.5679C>A (p.Val1893=)
c.5274C>A (p.Val1758=)
c.4632C>A (p.Val1544=)
c.2142C>A (p.Val714=)
n.6057C>A
10g.71785007C>GCA470060754CDH23c.5619C>G (p.Val1873=)
c.5634C>G (p.Val1878=)
c.5814C>G (p.Val1938=)
c.5748C>G (p.Val1916=)
c.5811C>G (p.Val1937=)
c.5808C>G (p.Val1936=)
c.5754C>G (p.Val1918=)
c.5679C>G (p.Val1893=)
c.5274C>G (p.Val1758=)
c.4632C>G (p.Val1544=)
c.2142C>G (p.Val714=)
n.6057C>G
10g.71785007C>TCA470060753CDH23c.5619C>T (p.Val1873=)
c.5634C>T (p.Val1878=)
c.5814C>T (p.Val1938=)
c.5748C>T (p.Val1916=)
c.5811C>T (p.Val1937=)
c.5808C>T (p.Val1936=)
c.5754C>T (p.Val1918=)
c.5679C>T (p.Val1893=)
c.5274C>T (p.Val1758=)
c.4632C>T (p.Val1544=)
c.2142C>T (p.Val714=)
n.6057C>T
10g.71785008C>ACA377146785CDH23c.5620C>A (p.Leu1874Met)
c.5635C>A (p.Leu1879Met)
c.5815C>A (p.Leu1939Met)
c.5749C>A (p.Leu1917Met)
c.5812C>A (p.Leu1938Met)
c.5809C>A (p.Leu1937Met)
c.5755C>A (p.Leu1919Met)
c.5680C>A (p.Leu1894Met)
c.5275C>A (p.Leu1759Met)
c.4633C>A (p.Leu1545Met)
c.2143C>A (p.Leu715Met)
n.6058C>A
10g.71785008C>GCA377146784CDH23c.5620C>G (p.Leu1874Val)
c.5635C>G (p.Leu1879Val)
c.5815C>G (p.Leu1939Val)
c.5749C>G (p.Leu1917Val)
c.5812C>G (p.Leu1938Val)
c.5809C>G (p.Leu1937Val)
c.5755C>G (p.Leu1919Val)
c.5680C>G (p.Leu1894Val)
c.5275C>G (p.Leu1759Val)
c.4633C>G (p.Leu1545Val)
c.2143C>G (p.Leu715Val)
n.6058C>G
10g.71785008C>TCA470060755CDH23c.5620C>T (p.Leu1874=)
c.5635C>T (p.Leu1879=)
c.5815C>T (p.Leu1939=)
c.5749C>T (p.Leu1917=)
c.5812C>T (p.Leu1938=)
c.5809C>T (p.Leu1937=)
c.5755C>T (p.Leu1919=)
c.5680C>T (p.Leu1894=)
c.5275C>T (p.Leu1759=)
c.4633C>T (p.Leu1545=)
c.2143C>T (p.Leu715=)
n.6058C>T
10g.71785009T>ACA377146787CDH23c.5621T>A (p.Leu1874Gln)
c.5636T>A (p.Leu1879Gln)
c.5816T>A (p.Leu1939Gln)
c.5750T>A (p.Leu1917Gln)
c.5813T>A (p.Leu1938Gln)
c.5810T>A (p.Leu1937Gln)
c.5756T>A (p.Leu1919Gln)
c.5681T>A (p.Leu1894Gln)
c.5276T>A (p.Leu1759Gln)
c.4634T>A (p.Leu1545Gln)
c.2144T>A (p.Leu715Gln)
n.6059T>A
10g.71785009T>CCA377146790CDH23c.5621T>C (p.Leu1874Pro)
c.5636T>C (p.Leu1879Pro)
c.5816T>C (p.Leu1939Pro)
c.5750T>C (p.Leu1917Pro)
c.5813T>C (p.Leu1938Pro)
c.5810T>C (p.Leu1937Pro)
c.5756T>C (p.Leu1919Pro)
c.5681T>C (p.Leu1894Pro)
c.5276T>C (p.Leu1759Pro)
c.4634T>C (p.Leu1545Pro)
c.2144T>C (p.Leu715Pro)
n.6059T>C
10g.71785009T>GCA5545818CDH23c.5621T>G (p.Leu1874Arg)
c.5636T>G (p.Leu1879Arg)
c.5816T>G (p.Leu1939Arg)
c.5750T>G (p.Leu1917Arg)
c.5813T>G (p.Leu1938Arg)
c.5810T>G (p.Leu1937Arg)
c.5756T>G (p.Leu1919Arg)
c.5681T>G (p.Leu1894Arg)
c.5276T>G (p.Leu1759Arg)
c.4634T>G (p.Leu1545Arg)
c.2144T>G (p.Leu715Arg)
n.6059T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785009T=CA1918862346CDH23c.5621T= (p.Leu1874=)
c.5636T= (p.Leu1879=)
c.5816T= (p.Leu1939=)
c.5750T= (p.Leu1917=)
c.5813T= (p.Leu1938=)
c.5810T= (p.Leu1937=)
c.5756T= (p.Leu1919=)
c.5681T= (p.Leu1894=)
c.5276T= (p.Leu1759=)
c.4634T= (p.Leu1545=)
c.2144T= (p.Leu715=)
n.6059T=
10g.71785010G>ACA470060756CDH23c.5622G>A (p.Leu1874=)
c.5637G>A (p.Leu1879=)
c.5817G>A (p.Leu1939=)
c.5751G>A (p.Leu1917=)
c.5814G>A (p.Leu1938=)
c.5811G>A (p.Leu1937=)
c.5757G>A (p.Leu1919=)
c.5682G>A (p.Leu1894=)
c.5277G>A (p.Leu1759=)
c.4635G>A (p.Leu1545=)
c.2145G>A (p.Leu715=)
n.6060G>A
10g.71785010G>CCA470060757CDH23c.5622G>C (p.Leu1874=)
c.5637G>C (p.Leu1879=)
c.5817G>C (p.Leu1939=)
c.5751G>C (p.Leu1917=)
c.5814G>C (p.Leu1938=)
c.5811G>C (p.Leu1937=)
c.5757G>C (p.Leu1919=)
c.5682G>C (p.Leu1894=)
c.5277G>C (p.Leu1759=)
c.4635G>C (p.Leu1545=)
c.2145G>C (p.Leu715=)
n.6060G>C
 ClinVar dbSNP gnomAD v4
10g.71785010G>TCA470060758CDH23c.5622G>T (p.Leu1874=)
c.5637G>T (p.Leu1879=)
c.5817G>T (p.Leu1939=)
c.5751G>T (p.Leu1917=)
c.5814G>T (p.Leu1938=)
c.5811G>T (p.Leu1937=)
c.5757G>T (p.Leu1919=)
c.5682G>T (p.Leu1894=)
c.5277G>T (p.Leu1759=)
c.4635G>T (p.Leu1545=)
c.2145G>T (p.Leu715=)
n.6060G>T
10g.71785011G>ACA377146793CDH23c.5623G>A (p.Ala1875Thr)
c.5638G>A (p.Ala1880Thr)
c.5818G>A (p.Ala1940Thr)
c.5752G>A (p.Ala1918Thr)
c.5815G>A (p.Ala1939Thr)
c.5812G>A (p.Ala1938Thr)
c.5758G>A (p.Ala1920Thr)
c.5683G>A (p.Ala1895Thr)
c.5278G>A (p.Ala1760Thr)
c.4636G>A (p.Ala1546Thr)
c.2146G>A (p.Ala716Thr)
n.6061G>A
10g.71785011G>CCA377146797CDH23c.5623G>C (p.Ala1875Pro)
c.5638G>C (p.Ala1880Pro)
c.5818G>C (p.Ala1940Pro)
c.5752G>C (p.Ala1918Pro)
c.5815G>C (p.Ala1939Pro)
c.5812G>C (p.Ala1938Pro)
c.5758G>C (p.Ala1920Pro)
c.5683G>C (p.Ala1895Pro)
c.5278G>C (p.Ala1760Pro)
c.4636G>C (p.Ala1546Pro)
c.2146G>C (p.Ala716Pro)
n.6061G>C
10g.71785011G>TCA377146795CDH23c.5623G>T (p.Ala1875Ser)
c.5638G>T (p.Ala1880Ser)
c.5818G>T (p.Ala1940Ser)
c.5752G>T (p.Ala1918Ser)
c.5815G>T (p.Ala1939Ser)
c.5812G>T (p.Ala1938Ser)
c.5758G>T (p.Ala1920Ser)
c.5683G>T (p.Ala1895Ser)
c.5278G>T (p.Ala1760Ser)
c.4636G>T (p.Ala1546Ser)
c.2146G>T (p.Ala716Ser)
n.6061G>T
 COSMIC
10g.71785012C>ACA377146801CDH23c.5624C>A (p.Ala1875Asp)
c.5639C>A (p.Ala1880Asp)
c.5819C>A (p.Ala1940Asp)
c.5753C>A (p.Ala1918Asp)
c.5816C>A (p.Ala1939Asp)
c.5813C>A (p.Ala1938Asp)
c.5759C>A (p.Ala1920Asp)
c.5684C>A (p.Ala1895Asp)
c.5279C>A (p.Ala1760Asp)
c.4637C>A (p.Ala1546Asp)
c.2147C>A (p.Ala716Asp)
n.6062C>A
10g.71785012C>GCA377146803CDH23c.5624C>G (p.Ala1875Gly)
c.5639C>G (p.Ala1880Gly)
c.5819C>G (p.Ala1940Gly)
c.5753C>G (p.Ala1918Gly)
c.5816C>G (p.Ala1939Gly)
c.5813C>G (p.Ala1938Gly)
c.5759C>G (p.Ala1920Gly)
c.5684C>G (p.Ala1895Gly)
c.5279C>G (p.Ala1760Gly)
c.4637C>G (p.Ala1546Gly)
c.2147C>G (p.Ala716Gly)
n.6062C>G
10g.71785012C>TCA377146806CDH23c.5624C>T (p.Ala1875Val)
c.5639C>T (p.Ala1880Val)
c.5819C>T (p.Ala1940Val)
c.5753C>T (p.Ala1918Val)
c.5816C>T (p.Ala1939Val)
c.5813C>T (p.Ala1938Val)
c.5759C>T (p.Ala1920Val)
c.5684C>T (p.Ala1895Val)
c.5279C>T (p.Ala1760Val)
c.4637C>T (p.Ala1546Val)
c.2147C>T (p.Ala716Val)
n.6062C>T
 dbSNP
10g.71785013C>ACA470060759CDH23c.5625C>A (p.Ala1875=)
c.5640C>A (p.Ala1880=)
c.5820C>A (p.Ala1940=)
c.5754C>A (p.Ala1918=)
c.5817C>A (p.Ala1939=)
c.5814C>A (p.Ala1938=)
c.5760C>A (p.Ala1920=)
c.5685C>A (p.Ala1895=)
c.5280C>A (p.Ala1760=)
c.4638C>A (p.Ala1546=)
c.2148C>A (p.Ala716=)
n.6063C>A
10g.71785013C>GCA470060761CDH23c.5625C>G (p.Ala1875=)
c.5640C>G (p.Ala1880=)
c.5820C>G (p.Ala1940=)
c.5754C>G (p.Ala1918=)
c.5817C>G (p.Ala1939=)
c.5814C>G (p.Ala1938=)
c.5760C>G (p.Ala1920=)
c.5685C>G (p.Ala1895=)
c.5280C>G (p.Ala1760=)
c.4638C>G (p.Ala1546=)
c.2148C>G (p.Ala716=)
n.6063C>G
10g.71785013C>TCA470060760CDH23c.5625C>T (p.Ala1875=)
c.5640C>T (p.Ala1880=)
c.5820C>T (p.Ala1940=)
c.5754C>T (p.Ala1918=)
c.5817C>T (p.Ala1939=)
c.5814C>T (p.Ala1938=)
c.5760C>T (p.Ala1920=)
c.5685C>T (p.Ala1895=)
c.5280C>T (p.Ala1760=)
c.4638C>T (p.Ala1546=)
c.2148C>T (p.Ala716=)
n.6063C>T
 ClinVar dbSNP
10g.71785014A>CCA377146809CDH23c.5626A>C (p.Ser1876Arg)
c.5641A>C (p.Ser1881Arg)
c.5821A>C (p.Ser1941Arg)
c.5755A>C (p.Ser1919Arg)
c.5818A>C (p.Ser1940Arg)
c.5815A>C (p.Ser1939Arg)
c.5761A>C (p.Ser1921Arg)
c.5686A>C (p.Ser1896Arg)
c.5281A>C (p.Ser1761Arg)
c.4639A>C (p.Ser1547Arg)
c.2149A>C (p.Ser717Arg)
n.6064A>C
10g.71785014A>GCA377146810CDH23c.5626A>G (p.Ser1876Gly)
c.5641A>G (p.Ser1881Gly)
c.5821A>G (p.Ser1941Gly)
c.5755A>G (p.Ser1919Gly)
c.5818A>G (p.Ser1940Gly)
c.5815A>G (p.Ser1939Gly)
c.5761A>G (p.Ser1921Gly)
c.5686A>G (p.Ser1896Gly)
c.5281A>G (p.Ser1761Gly)
c.4639A>G (p.Ser1547Gly)
c.2149A>G (p.Ser717Gly)
n.6064A>G
10g.71785014A>TCA377146812CDH23c.5626A>T (p.Ser1876Cys)
c.5641A>T (p.Ser1881Cys)
c.5821A>T (p.Ser1941Cys)
c.5755A>T (p.Ser1919Cys)
c.5818A>T (p.Ser1940Cys)
c.5815A>T (p.Ser1939Cys)
c.5761A>T (p.Ser1921Cys)
c.5686A>T (p.Ser1896Cys)
c.5281A>T (p.Ser1761Cys)
c.4639A>T (p.Ser1547Cys)
c.2149A>T (p.Ser717Cys)
n.6064A>T
10g.71785015G>ACA209457528CDH23c.5627G>A (p.Ser1876Asn)
c.5642G>A (p.Ser1881Asn)
c.5822G>A (p.Ser1941Asn)
c.5756G>A (p.Ser1919Asn)
c.5819G>A (p.Ser1940Asn)
c.5816G>A (p.Ser1939Asn)
c.5762G>A (p.Ser1921Asn)
c.5687G>A (p.Ser1896Asn)
c.5282G>A (p.Ser1761Asn)
c.4640G>A (p.Ser1547Asn)
c.2150G>A (p.Ser717Asn)
n.6065G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71785015G>CCA377146814CDH23c.5627G>C (p.Ser1876Thr)
c.5642G>C (p.Ser1881Thr)
c.5822G>C (p.Ser1941Thr)
c.5756G>C (p.Ser1919Thr)
c.5819G>C (p.Ser1940Thr)
c.5816G>C (p.Ser1939Thr)
c.5762G>C (p.Ser1921Thr)
c.5687G>C (p.Ser1896Thr)
c.5282G>C (p.Ser1761Thr)
c.4640G>C (p.Ser1547Thr)
c.2150G>C (p.Ser717Thr)
n.6065G>C
10g.71785015G=CA1918862354CDH23c.5627G= (p.Ser1876=)
c.5642G= (p.Ser1881=)
c.5822G= (p.Ser1941=)
c.5756G= (p.Ser1919=)
c.5819G= (p.Ser1940=)
c.5816G= (p.Ser1939=)
c.5762G= (p.Ser1921=)
c.5687G= (p.Ser1896=)
c.5282G= (p.Ser1761=)
c.4640G= (p.Ser1547=)
c.2150G= (p.Ser717=)
n.6065G=
10g.71785015G>TCA377146815CDH23c.5627G>T (p.Ser1876Ile)
c.5642G>T (p.Ser1881Ile)
c.5822G>T (p.Ser1941Ile)
c.5756G>T (p.Ser1919Ile)
c.5819G>T (p.Ser1940Ile)
c.5816G>T (p.Ser1939Ile)
c.5762G>T (p.Ser1921Ile)
c.5687G>T (p.Ser1896Ile)
c.5282G>T (p.Ser1761Ile)
c.4640G>T (p.Ser1547Ile)
c.2150G>T (p.Ser717Ile)
n.6065G>T
10g.71785015_71785021delinsGTGACGCCA1918862356CDH23c.5627_5633delinsGTGACGC (p.Ser1876=)
c.5642_5648delinsGTGACGC (p.Ser1881=)
c.5822_5828delinsGTGACGC (p.Ser1941=)
c.5756_5762delinsGTGACGC (p.Ser1919=)
c.5819_5825delinsGTGACGC (p.Ser1940=)
c.5816_5822delinsGTGACGC (p.Ser1939=)
c.5762_5768delinsGTGACGC (p.Ser1921=)
c.5687_5693delinsGTGACGC (p.Ser1896=)
c.5282_5288delinsGTGACGC (p.Ser1761=)
c.4640_4646delinsGTGACGC (p.Ser1547=)
c.2150_2156delinsGTGACGC (p.Ser717=)
n.6065_6071delinsGTGACGC
10g.71785016T>ACA377146818CDH23c.5628T>A (p.Ser1876Arg)
c.5643T>A (p.Ser1881Arg)
c.5823T>A (p.Ser1941Arg)
c.5757T>A (p.Ser1919Arg)
c.5820T>A (p.Ser1940Arg)
c.5817T>A (p.Ser1939Arg)
c.5763T>A (p.Ser1921Arg)
c.5688T>A (p.Ser1896Arg)
c.5283T>A (p.Ser1761Arg)
c.4641T>A (p.Ser1547Arg)
c.2151T>A (p.Ser717Arg)
n.6066T>A
10g.71785016T>CCA470060762CDH23c.5628T>C (p.Ser1876=)
c.5643T>C (p.Ser1881=)
c.5823T>C (p.Ser1941=)
c.5757T>C (p.Ser1919=)
c.5820T>C (p.Ser1940=)
c.5817T>C (p.Ser1939=)
c.5763T>C (p.Ser1921=)
c.5688T>C (p.Ser1896=)
c.5283T>C (p.Ser1761=)
c.4641T>C (p.Ser1547=)
c.2151T>C (p.Ser717=)
n.6066T>C
10g.71785016T>GCA377146821CDH23c.5628T>G (p.Ser1876Arg)
c.5643T>G (p.Ser1881Arg)
c.5823T>G (p.Ser1941Arg)
c.5757T>G (p.Ser1919Arg)
c.5820T>G (p.Ser1940Arg)
c.5817T>G (p.Ser1939Arg)
c.5763T>G (p.Ser1921Arg)
c.5688T>G (p.Ser1896Arg)
c.5283T>G (p.Ser1761Arg)
c.4641T>G (p.Ser1547Arg)
c.2151T>G (p.Ser717Arg)
n.6066T>G
10g.71785020_71785025delCA1139661498CDH23c.5632_5637del (p.Ala1878_Asp1879del)
c.5647_5652del (p.Ala1883_Asp1884del)
c.5827_5832del (p.Ala1943_Asp1944del)
c.5761_5766del (p.Ala1921_Asp1922del)
c.5824_5829del (p.Ala1942_Asp1943del)
c.5821_5826del (p.Ala1941_Asp1942del)
c.5767_5772del (p.Ala1923_Asp1924del)
c.5692_5697del (p.Ala1898_Asp1899del)
c.5287_5292del (p.Ala1763_Asp1764del)
c.4645_4650del (p.Ala1549_Asp1550del)
c.2155_2160del (p.Ala719_Asp720del)
n.6070_6075del
 ClinVar dbSNP gnomAD v4
10g.71785017G>ACA377146824CDH23c.5629G>A (p.Asp1877Asn)
c.5644G>A (p.Asp1882Asn)
c.5824G>A (p.Asp1942Asn)
c.5758G>A (p.Asp1920Asn)
c.5821G>A (p.Asp1941Asn)
c.5818G>A (p.Asp1940Asn)
c.5764G>A (p.Asp1922Asn)
c.5689G>A (p.Asp1897Asn)
c.5284G>A (p.Asp1762Asn)
c.4642G>A (p.Asp1548Asn)
c.2152G>A (p.Asp718Asn)
n.6067G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71785017G>CCA377146827CDH23c.5629G>C (p.Asp1877His)
c.5644G>C (p.Asp1882His)
c.5824G>C (p.Asp1942His)
c.5758G>C (p.Asp1920His)
c.5821G>C (p.Asp1941His)
c.5818G>C (p.Asp1940His)
c.5764G>C (p.Asp1922His)
c.5689G>C (p.Asp1897His)
c.5284G>C (p.Asp1762His)
c.4642G>C (p.Asp1548His)
c.2152G>C (p.Asp718His)
n.6067G>C
10g.71785017G=CA1918862363CDH23c.5629G= (p.Asp1877=)
c.5644G= (p.Asp1882=)
c.5824G= (p.Asp1942=)
c.5758G= (p.Asp1920=)
c.5821G= (p.Asp1941=)
c.5818G= (p.Asp1940=)
c.5764G= (p.Asp1922=)
c.5689G= (p.Asp1897=)
c.5284G= (p.Asp1762=)
c.4642G= (p.Asp1548=)
c.2152G= (p.Asp718=)
n.6067G=
10g.71785017G>TCA377146829CDH23c.5629G>T (p.Asp1877Tyr)
c.5644G>T (p.Asp1882Tyr)
c.5824G>T (p.Asp1942Tyr)
c.5758G>T (p.Asp1920Tyr)
c.5821G>T (p.Asp1941Tyr)
c.5818G>T (p.Asp1940Tyr)
c.5764G>T (p.Asp1922Tyr)
c.5689G>T (p.Asp1897Tyr)
c.5284G>T (p.Asp1762Tyr)
c.4642G>T (p.Asp1548Tyr)
c.2152G>T (p.Asp718Tyr)
n.6067G>T
10g.71785018A>CCA377146836CDH23c.5630A>C (p.Asp1877Ala)
c.5645A>C (p.Asp1882Ala)
c.5825A>C (p.Asp1942Ala)
c.5759A>C (p.Asp1920Ala)
c.5822A>C (p.Asp1941Ala)
c.5819A>C (p.Asp1940Ala)
c.5765A>C (p.Asp1922Ala)
c.5690A>C (p.Asp1897Ala)
c.5285A>C (p.Asp1762Ala)
c.4643A>C (p.Asp1548Ala)
c.2153A>C (p.Asp718Ala)
n.6068A>C
10g.71785018A>GCA377146832CDH23c.5630A>G (p.Asp1877Gly)
c.5645A>G (p.Asp1882Gly)
c.5825A>G (p.Asp1942Gly)
c.5759A>G (p.Asp1920Gly)
c.5822A>G (p.Asp1941Gly)
c.5819A>G (p.Asp1940Gly)
c.5765A>G (p.Asp1922Gly)
c.5690A>G (p.Asp1897Gly)
c.5285A>G (p.Asp1762Gly)
c.4643A>G (p.Asp1548Gly)
c.2153A>G (p.Asp718Gly)
n.6068A>G
10g.71785018A>TCA377146834CDH23c.5630A>T (p.Asp1877Val)
c.5645A>T (p.Asp1882Val)
c.5825A>T (p.Asp1942Val)
c.5759A>T (p.Asp1920Val)
c.5822A>T (p.Asp1941Val)
c.5819A>T (p.Asp1940Val)
c.5765A>T (p.Asp1922Val)
c.5690A>T (p.Asp1897Val)
c.5285A>T (p.Asp1762Val)
c.4643A>T (p.Asp1548Val)
c.2153A>T (p.Asp718Val)
n.6068A>T
10g.71785019C>ACA377146838CDH23c.5631C>A (p.Asp1877Glu)
c.5646C>A (p.Asp1882Glu)
c.5826C>A (p.Asp1942Glu)
c.5760C>A (p.Asp1920Glu)
c.5823C>A (p.Asp1941Glu)
c.5820C>A (p.Asp1940Glu)
c.5766C>A (p.Asp1922Glu)
c.5691C>A (p.Asp1897Glu)
c.5286C>A (p.Asp1762Glu)
c.4644C>A (p.Asp1548Glu)
c.2154C>A (p.Asp718Glu)
n.6069C>A
10g.71785019C=CA1918862371CDH23c.5631C= (p.Asp1877=)
c.5646C= (p.Asp1882=)
c.5826C= (p.Asp1942=)
c.5760C= (p.Asp1920=)
c.5823C= (p.Asp1941=)
c.5820C= (p.Asp1940=)
c.5766C= (p.Asp1922=)
c.5691C= (p.Asp1897=)
c.5286C= (p.Asp1762=)
c.4644C= (p.Asp1548=)
c.2154C= (p.Asp718=)
n.6069C=
10g.71785019C>GCA377146840CDH23c.5631C>G (p.Asp1877Glu)
c.5646C>G (p.Asp1882Glu)
c.5826C>G (p.Asp1942Glu)
c.5760C>G (p.Asp1920Glu)
c.5823C>G (p.Asp1941Glu)
c.5820C>G (p.Asp1940Glu)
c.5766C>G (p.Asp1922Glu)
c.5691C>G (p.Asp1897Glu)
c.5286C>G (p.Asp1762Glu)
c.4644C>G (p.Asp1548Glu)
c.2154C>G (p.Asp718Glu)
n.6069C>G
10g.71785019C>TCA5545819CDH23c.5631C>T (p.Asp1877=)
c.5646C>T (p.Asp1882=)
c.5826C>T (p.Asp1942=)
c.5760C>T (p.Asp1920=)
c.5823C>T (p.Asp1941=)
c.5820C>T (p.Asp1940=)
c.5766C>T (p.Asp1922=)
c.5691C>T (p.Asp1897=)
c.5286C>T (p.Asp1762=)
c.4644C>T (p.Asp1548=)
c.2154C>T (p.Asp718=)
n.6069C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785020G>ACA5545820CDH23c.5632G>A (p.Ala1878Thr)
c.5647G>A (p.Ala1883Thr)
c.5827G>A (p.Ala1943Thr)
c.5761G>A (p.Ala1921Thr)
c.5824G>A (p.Ala1942Thr)
c.5821G>A (p.Ala1941Thr)
c.5767G>A (p.Ala1923Thr)
c.5692G>A (p.Ala1898Thr)
c.5287G>A (p.Ala1763Thr)
c.4645G>A (p.Ala1549Thr)
c.2155G>A (p.Ala719Thr)
n.6070G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785020G>CCA377146845CDH23c.5632G>C (p.Ala1878Pro)
c.5647G>C (p.Ala1883Pro)
c.5827G>C (p.Ala1943Pro)
c.5761G>C (p.Ala1921Pro)
c.5824G>C (p.Ala1942Pro)
c.5821G>C (p.Ala1941Pro)
c.5767G>C (p.Ala1923Pro)
c.5692G>C (p.Ala1898Pro)
c.5287G>C (p.Ala1763Pro)
c.4645G>C (p.Ala1549Pro)
c.2155G>C (p.Ala719Pro)
n.6070G>C
10g.71785020G=CA1918862378CDH23c.5632G= (p.Ala1878=)
c.5647G= (p.Ala1883=)
c.5827G= (p.Ala1943=)
c.5761G= (p.Ala1921=)
c.5824G= (p.Ala1942=)
c.5821G= (p.Ala1941=)
c.5767G= (p.Ala1923=)
c.5692G= (p.Ala1898=)
c.5287G= (p.Ala1763=)
c.4645G= (p.Ala1549=)
c.2155G= (p.Ala719=)
n.6070G=
10g.71785020G>TCA377146848CDH23c.5632G>T (p.Ala1878Ser)
c.5647G>T (p.Ala1883Ser)
c.5827G>T (p.Ala1943Ser)
c.5761G>T (p.Ala1921Ser)
c.5824G>T (p.Ala1942Ser)
c.5821G>T (p.Ala1941Ser)
c.5767G>T (p.Ala1923Ser)
c.5692G>T (p.Ala1898Ser)
c.5287G>T (p.Ala1763Ser)
c.4645G>T (p.Ala1549Ser)
c.2155G>T (p.Ala719Ser)
n.6070G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71785021C>ACA377146850CDH23c.5633C>A (p.Ala1878Asp)
c.5648C>A (p.Ala1883Asp)
c.5828C>A (p.Ala1943Asp)
c.5762C>A (p.Ala1921Asp)
c.5825C>A (p.Ala1942Asp)
c.5822C>A (p.Ala1941Asp)
c.5768C>A (p.Ala1923Asp)
c.5693C>A (p.Ala1898Asp)
c.5288C>A (p.Ala1763Asp)
c.4646C>A (p.Ala1549Asp)
c.2156C>A (p.Ala719Asp)
n.6071C>A
10g.71785021C>GCA377146852CDH23c.5633C>G (p.Ala1878Gly)
c.5648C>G (p.Ala1883Gly)
c.5828C>G (p.Ala1943Gly)
c.5762C>G (p.Ala1921Gly)
c.5825C>G (p.Ala1942Gly)
c.5822C>G (p.Ala1941Gly)
c.5768C>G (p.Ala1923Gly)
c.5693C>G (p.Ala1898Gly)
c.5288C>G (p.Ala1763Gly)
c.4646C>G (p.Ala1549Gly)
c.2156C>G (p.Ala719Gly)
n.6071C>G
10g.71785021C>TCA377146856CDH23c.5633C>T (p.Ala1878Val)
c.5648C>T (p.Ala1883Val)
c.5828C>T (p.Ala1943Val)
c.5762C>T (p.Ala1921Val)
c.5825C>T (p.Ala1942Val)
c.5822C>T (p.Ala1941Val)
c.5768C>T (p.Ala1923Val)
c.5693C>T (p.Ala1898Val)
c.5288C>T (p.Ala1763Val)
c.4646C>T (p.Ala1549Val)
c.2156C>T (p.Ala719Val)
n.6071C>T
 ClinVar gnomAD v4
10g.71785022T>ACA470060765CDH23c.5634T>A (p.Ala1878=)
c.5649T>A (p.Ala1883=)
c.5829T>A (p.Ala1943=)
c.5763T>A (p.Ala1921=)
c.5826T>A (p.Ala1942=)
c.5823T>A (p.Ala1941=)
c.5769T>A (p.Ala1923=)
c.5694T>A (p.Ala1898=)
c.5289T>A (p.Ala1763=)
c.4647T>A (p.Ala1549=)
c.2157T>A (p.Ala719=)
n.6072T>A
 dbSNP gnomAD v3 gnomAD v4
10g.71785022T>CCA470060763CDH23c.5634T>C (p.Ala1878=)
c.5649T>C (p.Ala1883=)
c.5829T>C (p.Ala1943=)
c.5763T>C (p.Ala1921=)
c.5826T>C (p.Ala1942=)
c.5823T>C (p.Ala1941=)
c.5769T>C (p.Ala1923=)
c.5694T>C (p.Ala1898=)
c.5289T>C (p.Ala1763=)
c.4647T>C (p.Ala1549=)
c.2157T>C (p.Ala719=)
n.6072T>C
 gnomAD v4
10g.71785022T>GCA470060764CDH23c.5634T>G (p.Ala1878=)
c.5649T>G (p.Ala1883=)
c.5829T>G (p.Ala1943=)
c.5763T>G (p.Ala1921=)
c.5826T>G (p.Ala1942=)
c.5823T>G (p.Ala1941=)
c.5769T>G (p.Ala1923=)
c.5694T>G (p.Ala1898=)
c.5289T>G (p.Ala1763=)
c.4647T>G (p.Ala1549=)
c.2157T>G (p.Ala719=)
n.6072T>G
10g.71785022T=CA1918862382CDH23c.5634T= (p.Ala1878=)
c.5649T= (p.Ala1883=)
c.5829T= (p.Ala1943=)
c.5763T= (p.Ala1921=)
c.5826T= (p.Ala1942=)
c.5823T= (p.Ala1941=)
c.5769T= (p.Ala1923=)
c.5694T= (p.Ala1898=)
c.5289T= (p.Ala1763=)
c.4647T= (p.Ala1549=)
c.2157T= (p.Ala719=)
n.6072T=
10g.71785022dupCA2788480771CDH23c.5634dup (p.Asp1879Ter)
c.5649dup (p.Asp1884Ter)
c.5829dup (p.Asp1944Ter)
c.5763dup (p.Asp1922Ter)
c.5826dup (p.Asp1943Ter)
c.5823dup (p.Asp1942Ter)
c.5769dup (p.Asp1924Ter)
c.5694dup (p.Asp1899Ter)
c.5289dup (p.Asp1764Ter)
c.4647dup (p.Asp1550Ter)
c.2157dup (p.Asp720Ter)
n.6072dup
10g.71785023G>ACA377146859CDH23c.5635G>A (p.Asp1879Asn)
c.5650G>A (p.Asp1884Asn)
c.5830G>A (p.Asp1944Asn)
c.5764G>A (p.Asp1922Asn)
c.5827G>A (p.Asp1943Asn)
c.5824G>A (p.Asp1942Asn)
c.5770G>A (p.Asp1924Asn)
c.5695G>A (p.Asp1899Asn)
c.5290G>A (p.Asp1764Asn)
c.4648G>A (p.Asp1550Asn)
c.2158G>A (p.Asp720Asn)
n.6073G>A
 dbSNP
10g.71785023G>CCA377146861CDH23c.5635G>C (p.Asp1879His)
c.5650G>C (p.Asp1884His)
c.5830G>C (p.Asp1944His)
c.5764G>C (p.Asp1922His)
c.5827G>C (p.Asp1943His)
c.5824G>C (p.Asp1942His)
c.5770G>C (p.Asp1924His)
c.5695G>C (p.Asp1899His)
c.5290G>C (p.Asp1764His)
c.4648G>C (p.Asp1550His)
c.2158G>C (p.Asp720His)
n.6073G>C
10g.71785023G>TCA377146864CDH23c.5635G>T (p.Asp1879Tyr)
c.5650G>T (p.Asp1884Tyr)
c.5830G>T (p.Asp1944Tyr)
c.5764G>T (p.Asp1922Tyr)
c.5827G>T (p.Asp1943Tyr)
c.5824G>T (p.Asp1942Tyr)
c.5770G>T (p.Asp1924Tyr)
c.5695G>T (p.Asp1899Tyr)
c.5290G>T (p.Asp1764Tyr)
c.4648G>T (p.Asp1550Tyr)
c.2158G>T (p.Asp720Tyr)
n.6073G>T
10g.71785024A>CCA377146867CDH23c.5636A>C (p.Asp1879Ala)
c.5651A>C (p.Asp1884Ala)
c.5831A>C (p.Asp1944Ala)
c.5765A>C (p.Asp1922Ala)
c.5828A>C (p.Asp1943Ala)
c.5825A>C (p.Asp1942Ala)
c.5771A>C (p.Asp1924Ala)
c.5696A>C (p.Asp1899Ala)
c.5291A>C (p.Asp1764Ala)
c.4649A>C (p.Asp1550Ala)
c.2159A>C (p.Asp720Ala)
n.6074A>C
10g.71785024A>GCA377146871CDH23c.5636A>G (p.Asp1879Gly)
c.5651A>G (p.Asp1884Gly)
c.5831A>G (p.Asp1944Gly)
c.5765A>G (p.Asp1922Gly)
c.5828A>G (p.Asp1943Gly)
c.5825A>G (p.Asp1942Gly)
c.5771A>G (p.Asp1924Gly)
c.5696A>G (p.Asp1899Gly)
c.5291A>G (p.Asp1764Gly)
c.4649A>G (p.Asp1550Gly)
c.2159A>G (p.Asp720Gly)
n.6074A>G
 gnomAD v4
10g.71785024A>TCA377146868CDH23c.5636A>T (p.Asp1879Val)
c.5651A>T (p.Asp1884Val)
c.5831A>T (p.Asp1944Val)
c.5765A>T (p.Asp1922Val)
c.5828A>T (p.Asp1943Val)
c.5825A>T (p.Asp1942Val)
c.5771A>T (p.Asp1924Val)
c.5696A>T (p.Asp1899Val)
c.5291A>T (p.Asp1764Val)
c.4649A>T (p.Asp1550Val)
c.2159A>T (p.Asp720Val)
n.6074A>T
10g.71785025C>ACA377146874CDH23c.5637C>A (p.Asp1879Glu)
c.5652C>A (p.Asp1884Glu)
c.5832C>A (p.Asp1944Glu)
c.5766C>A (p.Asp1922Glu)
c.5829C>A (p.Asp1943Glu)
c.5826C>A (p.Asp1942Glu)
c.5772C>A (p.Asp1924Glu)
c.5697C>A (p.Asp1899Glu)
c.5292C>A (p.Asp1764Glu)
c.4650C>A (p.Asp1550Glu)
c.2160C>A (p.Asp720Glu)
n.6075C>A
10g.71785025C>GCA377146877CDH23c.5637C>G (p.Asp1879Glu)
c.5652C>G (p.Asp1884Glu)
c.5832C>G (p.Asp1944Glu)
c.5766C>G (p.Asp1922Glu)
c.5829C>G (p.Asp1943Glu)
c.5826C>G (p.Asp1942Glu)
c.5772C>G (p.Asp1924Glu)
c.5697C>G (p.Asp1899Glu)
c.5292C>G (p.Asp1764Glu)
c.4650C>G (p.Asp1550Glu)
c.2160C>G (p.Asp720Glu)
n.6075C>G
10g.71785025C>TCA470060766CDH23c.5637C>T (p.Asp1879=)
c.5652C>T (p.Asp1884=)
c.5832C>T (p.Asp1944=)
c.5766C>T (p.Asp1922=)
c.5829C>T (p.Asp1943=)
c.5826C>T (p.Asp1942=)
c.5772C>T (p.Asp1924=)
c.5697C>T (p.Asp1899=)
c.5292C>T (p.Asp1764=)
c.4650C>T (p.Asp1550=)
c.2160C>T (p.Asp720=)
n.6075C>T
10g.71785026A=CA1918862388CDH23c.5638A= (p.Ser1880=)
c.5653A= (p.Ser1885=)
c.5833A= (p.Ser1945=)
c.5767A= (p.Ser1923=)
c.5830A= (p.Ser1944=)
c.5827A= (p.Ser1943=)
c.5773A= (p.Ser1925=)
c.5698A= (p.Ser1900=)
c.5293A= (p.Ser1765=)
c.4651A= (p.Ser1551=)
c.2161A= (p.Ser721=)
n.6076A=
10g.71785026A>CCA5545821CDH23c.5638A>C (p.Ser1880Arg)
c.5653A>C (p.Ser1885Arg)
c.5833A>C (p.Ser1945Arg)
c.5767A>C (p.Ser1923Arg)
c.5830A>C (p.Ser1944Arg)
c.5827A>C (p.Ser1943Arg)
c.5773A>C (p.Ser1925Arg)
c.5698A>C (p.Ser1900Arg)
c.5293A>C (p.Ser1765Arg)
c.4651A>C (p.Ser1551Arg)
c.2161A>C (p.Ser721Arg)
n.6076A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785026A>GCA377146882CDH23c.5638A>G (p.Ser1880Gly)
c.5653A>G (p.Ser1885Gly)
c.5833A>G (p.Ser1945Gly)
c.5767A>G (p.Ser1923Gly)
c.5830A>G (p.Ser1944Gly)
c.5827A>G (p.Ser1943Gly)
c.5773A>G (p.Ser1925Gly)
c.5698A>G (p.Ser1900Gly)
c.5293A>G (p.Ser1765Gly)
c.4651A>G (p.Ser1551Gly)
c.2161A>G (p.Ser721Gly)
n.6076A>G
10g.71785026A>TCA377146883CDH23c.5638A>T (p.Ser1880Cys)
c.5653A>T (p.Ser1885Cys)
c.5833A>T (p.Ser1945Cys)
c.5767A>T (p.Ser1923Cys)
c.5830A>T (p.Ser1944Cys)
c.5827A>T (p.Ser1943Cys)
c.5773A>T (p.Ser1925Cys)
c.5698A>T (p.Ser1900Cys)
c.5293A>T (p.Ser1765Cys)
c.4651A>T (p.Ser1551Cys)
c.2161A>T (p.Ser721Cys)
n.6076A>T
10g.71785027G>ACA377146888CDH23c.5639G>A (p.Ser1880Asn)
c.5654G>A (p.Ser1885Asn)
c.5834G>A (p.Ser1945Asn)
c.5768G>A (p.Ser1923Asn)
c.5831G>A (p.Ser1944Asn)
c.5828G>A (p.Ser1943Asn)
c.5774G>A (p.Ser1925Asn)
c.5699G>A (p.Ser1900Asn)
c.5294G>A (p.Ser1765Asn)
c.4652G>A (p.Ser1551Asn)
c.2162G>A (p.Ser721Asn)
n.6077G>A
 dbSNP gnomAD v4
10g.71785027G>CCA377146891CDH23c.5639G>C (p.Ser1880Thr)
c.5654G>C (p.Ser1885Thr)
c.5834G>C (p.Ser1945Thr)
c.5768G>C (p.Ser1923Thr)
c.5831G>C (p.Ser1944Thr)
c.5828G>C (p.Ser1943Thr)
c.5774G>C (p.Ser1925Thr)
c.5699G>C (p.Ser1900Thr)
c.5294G>C (p.Ser1765Thr)
c.4652G>C (p.Ser1551Thr)
c.2162G>C (p.Ser721Thr)
n.6077G>C
10g.71785027G=CA1918862394CDH23c.5639G= (p.Ser1880=)
c.5654G= (p.Ser1885=)
c.5834G= (p.Ser1945=)
c.5768G= (p.Ser1923=)
c.5831G= (p.Ser1944=)
c.5828G= (p.Ser1943=)
c.5774G= (p.Ser1925=)
c.5699G= (p.Ser1900=)
c.5294G= (p.Ser1765=)
c.4652G= (p.Ser1551=)
c.2162G= (p.Ser721=)
n.6077G=
10g.71785027G>TCA377146893CDH23c.5639G>T (p.Ser1880Ile)
c.5654G>T (p.Ser1885Ile)
c.5834G>T (p.Ser1945Ile)
c.5768G>T (p.Ser1923Ile)
c.5831G>T (p.Ser1944Ile)
c.5828G>T (p.Ser1943Ile)
c.5774G>T (p.Ser1925Ile)
c.5699G>T (p.Ser1900Ile)
c.5294G>T (p.Ser1765Ile)
c.4652G>T (p.Ser1551Ile)
c.2162G>T (p.Ser721Ile)
n.6077G>T
10g.71785028T>ACA377146896CDH23c.5640T>A (p.Ser1880Arg)
c.5655T>A (p.Ser1885Arg)
c.5835T>A (p.Ser1945Arg)
c.5769T>A (p.Ser1923Arg)
c.5832T>A (p.Ser1944Arg)
c.5829T>A (p.Ser1943Arg)
c.5775T>A (p.Ser1925Arg)
c.5700T>A (p.Ser1900Arg)
c.5295T>A (p.Ser1765Arg)
c.4653T>A (p.Ser1551Arg)
c.2163T>A (p.Ser721Arg)
n.6078T>A
10g.71785028T>CCA470060767CDH23c.5640T>C (p.Ser1880=)
c.5655T>C (p.Ser1885=)
c.5835T>C (p.Ser1945=)
c.5769T>C (p.Ser1923=)
c.5832T>C (p.Ser1944=)
c.5829T>C (p.Ser1943=)
c.5775T>C (p.Ser1925=)
c.5700T>C (p.Ser1900=)
c.5295T>C (p.Ser1765=)
c.4653T>C (p.Ser1551=)
c.2163T>C (p.Ser721=)
n.6078T>C
10g.71785028T>GCA377146901CDH23c.5640T>G (p.Ser1880Arg)
c.5655T>G (p.Ser1885Arg)
c.5835T>G (p.Ser1945Arg)
c.5769T>G (p.Ser1923Arg)
c.5832T>G (p.Ser1944Arg)
c.5829T>G (p.Ser1943Arg)
c.5775T>G (p.Ser1925Arg)
c.5700T>G (p.Ser1900Arg)
c.5295T>G (p.Ser1765Arg)
c.4653T>G (p.Ser1551Arg)
c.2163T>G (p.Ser721Arg)
n.6078T>G
10g.71785028_71785029delinsTGCA1918862396CDH23c.5640_5641delinsTG (p.Ser1880=)
c.5655_5656delinsTG (p.Ser1885=)
c.5835_5836delinsTG (p.Ser1945=)
c.5769_5770delinsTG (p.Ser1923=)
c.5832_5833delinsTG (p.Ser1944=)
c.5829_5830delinsTG (p.Ser1943=)
c.5775_5776delinsTG (p.Ser1925=)
c.5700_5701delinsTG (p.Ser1900=)
c.5295_5296delinsTG (p.Ser1765=)
c.4653_4654delinsTG (p.Ser1551=)
c.2163_2164delinsTG (p.Ser721=)
n.6078_6079delinsTG
10g.71785029G>ACA377146903CDH23c.5641G>A (p.Gly1881Ser)
c.5656G>A (p.Gly1886Ser)
c.5836G>A (p.Gly1946Ser)
c.5770G>A (p.Gly1924Ser)
c.5833G>A (p.Gly1945Ser)
c.5830G>A (p.Gly1944Ser)
c.5776G>A (p.Gly1926Ser)
c.5701G>A (p.Gly1901Ser)
c.5296G>A (p.Gly1766Ser)
c.4654G>A (p.Gly1552Ser)
c.2164G>A (p.Gly722Ser)
n.6079G>A
 ClinVar gnomAD v4
10g.71785029G>CCA377146905CDH23c.5641G>C (p.Gly1881Arg)
c.5656G>C (p.Gly1886Arg)
c.5836G>C (p.Gly1946Arg)
c.5770G>C (p.Gly1924Arg)
c.5833G>C (p.Gly1945Arg)
c.5830G>C (p.Gly1944Arg)
c.5776G>C (p.Gly1926Arg)
c.5701G>C (p.Gly1901Arg)
c.5296G>C (p.Gly1766Arg)
c.4654G>C (p.Gly1552Arg)
c.2164G>C (p.Gly722Arg)
n.6079G>C
10g.71785029G>TCA377146920CDH23c.5641G>T (p.Gly1881Cys)
c.5656G>T (p.Gly1886Cys)
c.5836G>T (p.Gly1946Cys)
c.5770G>T (p.Gly1924Cys)
c.5833G>T (p.Gly1945Cys)
c.5830G>T (p.Gly1944Cys)
c.5776G>T (p.Gly1926Cys)
c.5701G>T (p.Gly1901Cys)
c.5296G>T (p.Gly1766Cys)
c.4654G>T (p.Gly1552Cys)
c.2164G>T (p.Gly722Cys)
n.6079G>T
10g.71785030delCA668098180CDH23c.5642del (p.Gly1881AlafsTer30)
c.5657del (p.Gly1886AlafsTer30)
c.5837del (p.Gly1946AlafsTer30)
c.5771del (p.Gly1924AlafsTer30)
c.5834del (p.Gly1945AlafsTer30)
c.5831del (p.Gly1944AlafsTer30)
c.5777del (p.Gly1926AlafsTer30)
c.5702del (p.Gly1901AlafsTer30)
c.5297del (p.Gly1766AlafsTer30)
c.4655del (p.Gly1552AlafsTer30)
c.2165del (p.Gly722AlafsTer30)
n.6080del
 dbSNP gnomAD v3 gnomAD v4
10g.71785030G>ACA377146925CDH23c.5642G>A (p.Gly1881Asp)
c.5657G>A (p.Gly1886Asp)
c.5837G>A (p.Gly1946Asp)
c.5771G>A (p.Gly1924Asp)
c.5834G>A (p.Gly1945Asp)
c.5831G>A (p.Gly1944Asp)
c.5777G>A (p.Gly1926Asp)
c.5702G>A (p.Gly1901Asp)
c.5297G>A (p.Gly1766Asp)
c.4655G>A (p.Gly1552Asp)
c.2165G>A (p.Gly722Asp)
n.6080G>A
10g.71785030G>CCA377146929CDH23c.5642G>C (p.Gly1881Ala)
c.5657G>C (p.Gly1886Ala)
c.5837G>C (p.Gly1946Ala)
c.5771G>C (p.Gly1924Ala)
c.5834G>C (p.Gly1945Ala)
c.5831G>C (p.Gly1944Ala)
c.5777G>C (p.Gly1926Ala)
c.5702G>C (p.Gly1901Ala)
c.5297G>C (p.Gly1766Ala)
c.4655G>C (p.Gly1552Ala)
c.2165G>C (p.Gly722Ala)
n.6080G>C
10g.71785030G>TCA377146927CDH23c.5642G>T (p.Gly1881Val)
c.5657G>T (p.Gly1886Val)
c.5837G>T (p.Gly1946Val)
c.5771G>T (p.Gly1924Val)
c.5834G>T (p.Gly1945Val)
c.5831G>T (p.Gly1944Val)
c.5777G>T (p.Gly1926Val)
c.5702G>T (p.Gly1901Val)
c.5297G>T (p.Gly1766Val)
c.4655G>T (p.Gly1552Val)
c.2165G>T (p.Gly722Val)
n.6080G>T
10g.71785031C>ACA470060768CDH23c.5643C>A (p.Gly1881=)
c.5658C>A (p.Gly1886=)
c.5838C>A (p.Gly1946=)
c.5772C>A (p.Gly1924=)
c.5835C>A (p.Gly1945=)
c.5832C>A (p.Gly1944=)
c.5778C>A (p.Gly1926=)
c.5703C>A (p.Gly1901=)
c.5298C>A (p.Gly1766=)
c.4656C>A (p.Gly1552=)
c.2166C>A (p.Gly722=)
n.6081C>A
10g.71785031C>GCA470060769CDH23c.5643C>G (p.Gly1881=)
c.5658C>G (p.Gly1886=)
c.5838C>G (p.Gly1946=)
c.5772C>G (p.Gly1924=)
c.5835C>G (p.Gly1945=)
c.5832C>G (p.Gly1944=)
c.5778C>G (p.Gly1926=)
c.5703C>G (p.Gly1901=)
c.5298C>G (p.Gly1766=)
c.4656C>G (p.Gly1552=)
c.2166C>G (p.Gly722=)
n.6081C>G
10g.71785031C>TCA470060770CDH23c.5643C>T (p.Gly1881=)
c.5658C>T (p.Gly1886=)
c.5838C>T (p.Gly1946=)
c.5772C>T (p.Gly1924=)
c.5835C>T (p.Gly1945=)
c.5832C>T (p.Gly1944=)
c.5778C>T (p.Gly1926=)
c.5703C>T (p.Gly1901=)
c.5298C>T (p.Gly1766=)
c.4656C>T (p.Gly1552=)
c.2166C>T (p.Gly722=)
n.6081C>T
10g.71785032T>ACA377146931CDH23c.5644T>A (p.Cys1882Ser)
c.5659T>A (p.Cys1887Ser)
c.5839T>A (p.Cys1947Ser)
c.5773T>A (p.Cys1925Ser)
c.5836T>A (p.Cys1946Ser)
c.5833T>A (p.Cys1945Ser)
c.5779T>A (p.Cys1927Ser)
c.5704T>A (p.Cys1902Ser)
c.5299T>A (p.Cys1767Ser)
c.4657T>A (p.Cys1553Ser)
c.2167T>A (p.Cys723Ser)
n.6082T>A
10g.71785032T>CCA377146933CDH23c.5644T>C (p.Cys1882Arg)
c.5659T>C (p.Cys1887Arg)
c.5839T>C (p.Cys1947Arg)
c.5773T>C (p.Cys1925Arg)
c.5836T>C (p.Cys1946Arg)
c.5833T>C (p.Cys1945Arg)
c.5779T>C (p.Cys1927Arg)
c.5704T>C (p.Cys1902Arg)
c.5299T>C (p.Cys1767Arg)
c.4657T>C (p.Cys1553Arg)
c.2167T>C (p.Cys723Arg)
n.6082T>C
10g.71785032T>GCA377146935CDH23c.5644T>G (p.Cys1882Gly)
c.5659T>G (p.Cys1887Gly)
c.5839T>G (p.Cys1947Gly)
c.5773T>G (p.Cys1925Gly)
c.5836T>G (p.Cys1946Gly)
c.5833T>G (p.Cys1945Gly)
c.5779T>G (p.Cys1927Gly)
c.5704T>G (p.Cys1902Gly)
c.5299T>G (p.Cys1767Gly)
c.4657T>G (p.Cys1553Gly)
c.2167T>G (p.Cys723Gly)
n.6082T>G
 dbSNP gnomAD v2 gnomAD v4
10g.71785032T=CA1918862400CDH23c.5644T= (p.Cys1882=)
c.5659T= (p.Cys1887=)
c.5839T= (p.Cys1947=)
c.5773T= (p.Cys1925=)
c.5836T= (p.Cys1946=)
c.5833T= (p.Cys1945=)
c.5779T= (p.Cys1927=)
c.5704T= (p.Cys1902=)
c.5299T= (p.Cys1767=)
c.4657T= (p.Cys1553=)
c.2167T= (p.Cys723=)
n.6082T=
10g.71785033G>ACA5545822CDH23c.5645G>A (p.Cys1882Tyr)
c.5660G>A (p.Cys1887Tyr)
c.5840G>A (p.Cys1947Tyr)
c.5774G>A (p.Cys1925Tyr)
c.5837G>A (p.Cys1946Tyr)
c.5834G>A (p.Cys1945Tyr)
c.5780G>A (p.Cys1927Tyr)
c.5705G>A (p.Cys1902Tyr)
c.5300G>A (p.Cys1767Tyr)
c.4658G>A (p.Cys1553Tyr)
c.2168G>A (p.Cys723Tyr)
n.6083G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785033G>CCA377146939CDH23c.5645G>C (p.Cys1882Ser)
c.5660G>C (p.Cys1887Ser)
c.5840G>C (p.Cys1947Ser)
c.5774G>C (p.Cys1925Ser)
c.5837G>C (p.Cys1946Ser)
c.5834G>C (p.Cys1945Ser)
c.5780G>C (p.Cys1927Ser)
c.5705G>C (p.Cys1902Ser)
c.5300G>C (p.Cys1767Ser)
c.4658G>C (p.Cys1553Ser)
c.2168G>C (p.Cys723Ser)
n.6083G>C
10g.71785033G=CA1918862403CDH23c.5645G= (p.Cys1882=)
c.5660G= (p.Cys1887=)
c.5840G= (p.Cys1947=)
c.5774G= (p.Cys1925=)
c.5837G= (p.Cys1946=)
c.5834G= (p.Cys1945=)
c.5780G= (p.Cys1927=)
c.5705G= (p.Cys1902=)
c.5300G= (p.Cys1767=)
c.4658G= (p.Cys1553=)
c.2168G= (p.Cys723=)
n.6083G=
10g.71785033G>TCA377146940CDH23c.5645G>T (p.Cys1882Phe)
c.5660G>T (p.Cys1887Phe)
c.5840G>T (p.Cys1947Phe)
c.5774G>T (p.Cys1925Phe)
c.5837G>T (p.Cys1946Phe)
c.5834G>T (p.Cys1945Phe)
c.5780G>T (p.Cys1927Phe)
c.5705G>T (p.Cys1902Phe)
c.5300G>T (p.Cys1767Phe)
c.4658G>T (p.Cys1553Phe)
c.2168G>T (p.Cys723Phe)
n.6083G>T
10g.71785034C>ACA377146943CDH23c.5646C>A (p.Cys1882Ter)
c.5661C>A (p.Cys1887Ter)
c.5841C>A (p.Cys1947Ter)
c.5775C>A (p.Cys1925Ter)
c.5838C>A (p.Cys1946Ter)
c.5835C>A (p.Cys1945Ter)
c.5781C>A (p.Cys1927Ter)
c.5706C>A (p.Cys1902Ter)
c.5301C>A (p.Cys1767Ter)
c.4659C>A (p.Cys1553Ter)
c.2169C>A (p.Cys723Ter)
n.6084C>A
10g.71785034C=CA1918862407CDH23c.5646C= (p.Cys1882=)
c.5661C= (p.Cys1887=)
c.5841C= (p.Cys1947=)
c.5775C= (p.Cys1925=)
c.5838C= (p.Cys1946=)
c.5835C= (p.Cys1945=)
c.5781C= (p.Cys1927=)
c.5706C= (p.Cys1902=)
c.5301C= (p.Cys1767=)
c.4659C= (p.Cys1553=)
c.2169C= (p.Cys723=)
n.6084C=
10g.71785034C>GCA5545823CDH23c.5646C>G (p.Cys1882Trp)
c.5661C>G (p.Cys1887Trp)
c.5841C>G (p.Cys1947Trp)
c.5775C>G (p.Cys1925Trp)
c.5838C>G (p.Cys1946Trp)
c.5835C>G (p.Cys1945Trp)
c.5781C>G (p.Cys1927Trp)
c.5706C>G (p.Cys1902Trp)
c.5301C>G (p.Cys1767Trp)
c.4659C>G (p.Cys1553Trp)
c.2169C>G (p.Cys723Trp)
n.6084C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785034C>TCA5545824CDH23c.5646C>T (p.Cys1882=)
c.5661C>T (p.Cys1887=)
c.5841C>T (p.Cys1947=)
c.5775C>T (p.Cys1925=)
c.5838C>T (p.Cys1946=)
c.5835C>T (p.Cys1945=)
c.5781C>T (p.Cys1927=)
c.5706C>T (p.Cys1902=)
c.5301C>T (p.Cys1767=)
c.4659C>T (p.Cys1553=)
c.2169C>T (p.Cys723=)
n.6084C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785035A=CA1918862416CDH23c.5647A= (p.Asn1883=)
c.5662A= (p.Asn1888=)
c.5842A= (p.Asn1948=)
c.5776A= (p.Asn1926=)
c.5839A= (p.Asn1947=)
c.5836A= (p.Asn1946=)
c.5782A= (p.Asn1928=)
c.5707A= (p.Asn1903=)
c.5302A= (p.Asn1768=)
c.4660A= (p.Asn1554=)
c.2170A= (p.Asn724=)
n.6085A=
10g.71785035A>CCA5545825CDH23c.5647A>C (p.Asn1883His)
c.5662A>C (p.Asn1888His)
c.5842A>C (p.Asn1948His)
c.5776A>C (p.Asn1926His)
c.5839A>C (p.Asn1947His)
c.5836A>C (p.Asn1946His)
c.5782A>C (p.Asn1928His)
c.5707A>C (p.Asn1903His)
c.5302A>C (p.Asn1768His)
c.4660A>C (p.Asn1554His)
c.2170A>C (p.Asn724His)
n.6085A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785035A>GCA209457552CDH23c.5647A>G (p.Asn1883Asp)
c.5662A>G (p.Asn1888Asp)
c.5842A>G (p.Asn1948Asp)
c.5776A>G (p.Asn1926Asp)
c.5839A>G (p.Asn1947Asp)
c.5836A>G (p.Asn1946Asp)
c.5782A>G (p.Asn1928Asp)
c.5707A>G (p.Asn1903Asp)
c.5302A>G (p.Asn1768Asp)
c.4660A>G (p.Asn1554Asp)
c.2170A>G (p.Asn724Asp)
n.6085A>G
 dbSNP gnomAD v4
10g.71785035A>TCA377146947CDH23c.5647A>T (p.Asn1883Tyr)
c.5662A>T (p.Asn1888Tyr)
c.5842A>T (p.Asn1948Tyr)
c.5776A>T (p.Asn1926Tyr)
c.5839A>T (p.Asn1947Tyr)
c.5836A>T (p.Asn1946Tyr)
c.5782A>T (p.Asn1928Tyr)
c.5707A>T (p.Asn1903Tyr)
c.5302A>T (p.Asn1768Tyr)
c.4660A>T (p.Asn1554Tyr)
c.2170A>T (p.Asn724Tyr)
n.6085A>T
10g.71785036A=CA1918862428CDH23c.5648A= (p.Asn1883=)
c.5663A= (p.Asn1888=)
c.5843A= (p.Asn1948=)
c.5777A= (p.Asn1926=)
c.5840A= (p.Asn1947=)
c.5837A= (p.Asn1946=)
c.5783A= (p.Asn1928=)
c.5708A= (p.Asn1903=)
c.5303A= (p.Asn1768=)
c.4661A= (p.Asn1554=)
c.2171A= (p.Asn724=)
n.6086A=
10g.71785036A>CCA377146957CDH23c.5648A>C (p.Asn1883Thr)
c.5663A>C (p.Asn1888Thr)
c.5843A>C (p.Asn1948Thr)
c.5777A>C (p.Asn1926Thr)
c.5840A>C (p.Asn1947Thr)
c.5837A>C (p.Asn1946Thr)
c.5783A>C (p.Asn1928Thr)
c.5708A>C (p.Asn1903Thr)
c.5303A>C (p.Asn1768Thr)
c.4661A>C (p.Asn1554Thr)
c.2171A>C (p.Asn724Thr)
n.6086A>C
10g.71785036A>GCA377146958CDH23c.5648A>G (p.Asn1883Ser)
c.5663A>G (p.Asn1888Ser)
c.5843A>G (p.Asn1948Ser)
c.5777A>G (p.Asn1926Ser)
c.5840A>G (p.Asn1947Ser)
c.5837A>G (p.Asn1946Ser)
c.5783A>G (p.Asn1928Ser)
c.5708A>G (p.Asn1903Ser)
c.5303A>G (p.Asn1768Ser)
c.4661A>G (p.Asn1554Ser)
c.2171A>G (p.Asn724Ser)
n.6086A>G
 dbSNP gnomAD v4
10g.71785036A>TCA377146962CDH23c.5648A>T (p.Asn1883Ile)
c.5663A>T (p.Asn1888Ile)
c.5843A>T (p.Asn1948Ile)
c.5777A>T (p.Asn1926Ile)
c.5840A>T (p.Asn1947Ile)
c.5837A>T (p.Asn1946Ile)
c.5783A>T (p.Asn1928Ile)
c.5708A>T (p.Asn1903Ile)
c.5303A>T (p.Asn1768Ile)
c.4661A>T (p.Asn1554Ile)
c.2171A>T (p.Asn724Ile)
n.6086A>T
10g.71785037T>ACA377146965CDH23c.5649T>A (p.Asn1883Lys)
c.5664T>A (p.Asn1888Lys)
c.5844T>A (p.Asn1948Lys)
c.5778T>A (p.Asn1926Lys)
c.5841T>A (p.Asn1947Lys)
c.5838T>A (p.Asn1946Lys)
c.5784T>A (p.Asn1928Lys)
c.5709T>A (p.Asn1903Lys)
c.5304T>A (p.Asn1768Lys)
c.4662T>A (p.Asn1554Lys)
c.2172T>A (p.Asn724Lys)
n.6087T>A
 dbSNP gnomAD v3 gnomAD v4
10g.71785037T>CCA470060771CDH23c.5649T>C (p.Asn1883=)
c.5664T>C (p.Asn1888=)
c.5844T>C (p.Asn1948=)
c.5778T>C (p.Asn1926=)
c.5841T>C (p.Asn1947=)
c.5838T>C (p.Asn1946=)
c.5784T>C (p.Asn1928=)
c.5709T>C (p.Asn1903=)
c.5304T>C (p.Asn1768=)
c.4662T>C (p.Asn1554=)
c.2172T>C (p.Asn724=)
n.6087T>C
 gnomAD v4
10g.71785037T>GCA377146968CDH23c.5649T>G (p.Asn1883Lys)
c.5664T>G (p.Asn1888Lys)
c.5844T>G (p.Asn1948Lys)
c.5778T>G (p.Asn1926Lys)
c.5841T>G (p.Asn1947Lys)
c.5838T>G (p.Asn1946Lys)
c.5784T>G (p.Asn1928Lys)
c.5709T>G (p.Asn1903Lys)
c.5304T>G (p.Asn1768Lys)
c.4662T>G (p.Asn1554Lys)
c.2172T>G (p.Asn724Lys)
n.6087T>G
10g.71785037T=CA1918862431CDH23c.5649T= (p.Asn1883=)
c.5664T= (p.Asn1888=)
c.5844T= (p.Asn1948=)
c.5778T= (p.Asn1926=)
c.5841T= (p.Asn1947=)
c.5838T= (p.Asn1946=)
c.5784T= (p.Asn1928=)
c.5709T= (p.Asn1903=)
c.5304T= (p.Asn1768=)
c.4662T= (p.Asn1554=)
c.2172T= (p.Asn724=)
n.6087T=
10g.71785038G>ACA377146977CDH23c.5650G>A (p.Ala1884Thr)
c.5665G>A (p.Ala1889Thr)
c.5845G>A (p.Ala1949Thr)
c.5779G>A (p.Ala1927Thr)
c.5842G>A (p.Ala1948Thr)
c.5839G>A (p.Ala1947Thr)
c.5785G>A (p.Ala1929Thr)
c.5710G>A (p.Ala1904Thr)
c.5305G>A (p.Ala1769Thr)
c.4663G>A (p.Ala1555Thr)
c.2173G>A (p.Ala725Thr)
n.6088G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71785038G>CCA377146974CDH23c.5650G>C (p.Ala1884Pro)
c.5665G>C (p.Ala1889Pro)
c.5845G>C (p.Ala1949Pro)
c.5779G>C (p.Ala1927Pro)
c.5842G>C (p.Ala1948Pro)
c.5839G>C (p.Ala1947Pro)
c.5785G>C (p.Ala1929Pro)
c.5710G>C (p.Ala1904Pro)
c.5305G>C (p.Ala1769Pro)
c.4663G>C (p.Ala1555Pro)
c.2173G>C (p.Ala725Pro)
n.6088G>C
10g.71785038G=CA1918862434CDH23c.5650G= (p.Ala1884=)
c.5665G= (p.Ala1889=)
c.5845G= (p.Ala1949=)
c.5779G= (p.Ala1927=)
c.5842G= (p.Ala1948=)
c.5839G= (p.Ala1947=)
c.5785G= (p.Ala1929=)
c.5710G= (p.Ala1904=)
c.5305G= (p.Ala1769=)
c.4663G= (p.Ala1555=)
c.2173G= (p.Ala725=)
n.6088G=
10g.71785038G>TCA377146971CDH23c.5650G>T (p.Ala1884Ser)
c.5665G>T (p.Ala1889Ser)
c.5845G>T (p.Ala1949Ser)
c.5779G>T (p.Ala1927Ser)
c.5842G>T (p.Ala1948Ser)
c.5839G>T (p.Ala1947Ser)
c.5785G>T (p.Ala1929Ser)
c.5710G>T (p.Ala1904Ser)
c.5305G>T (p.Ala1769Ser)
c.4663G>T (p.Ala1555Ser)
c.2173G>T (p.Ala725Ser)
n.6088G>T
10g.71785039C>ACA377146981CDH23c.5651C>A (p.Ala1884Glu)
c.5666C>A (p.Ala1889Glu)
c.5846C>A (p.Ala1949Glu)
c.5780C>A (p.Ala1927Glu)
c.5843C>A (p.Ala1948Glu)
c.5840C>A (p.Ala1947Glu)
c.5786C>A (p.Ala1929Glu)
c.5711C>A (p.Ala1904Glu)
c.5306C>A (p.Ala1769Glu)
c.4664C>A (p.Ala1555Glu)
c.2174C>A (p.Ala725Glu)
n.6089C>A
10g.71785039C>GCA377146983CDH23c.5651C>G (p.Ala1884Gly)
c.5666C>G (p.Ala1889Gly)
c.5846C>G (p.Ala1949Gly)
c.5780C>G (p.Ala1927Gly)
c.5843C>G (p.Ala1948Gly)
c.5840C>G (p.Ala1947Gly)
c.5786C>G (p.Ala1929Gly)
c.5711C>G (p.Ala1904Gly)
c.5306C>G (p.Ala1769Gly)
c.4664C>G (p.Ala1555Gly)
c.2174C>G (p.Ala725Gly)
n.6089C>G
10g.71785039C>TCA377146985CDH23c.5651C>T (p.Ala1884Val)
c.5666C>T (p.Ala1889Val)
c.5846C>T (p.Ala1949Val)
c.5780C>T (p.Ala1927Val)
c.5843C>T (p.Ala1948Val)
c.5840C>T (p.Ala1947Val)
c.5786C>T (p.Ala1929Val)
c.5711C>T (p.Ala1904Val)
c.5306C>T (p.Ala1769Val)
c.4664C>T (p.Ala1555Val)
c.2174C>T (p.Ala725Val)
n.6089C>T
10g.71785040A>CCA470060772CDH23c.5652A>C (p.Ala1884=)
c.5667A>C (p.Ala1889=)
c.5847A>C (p.Ala1949=)
c.5781A>C (p.Ala1927=)
c.5844A>C (p.Ala1948=)
c.5841A>C (p.Ala1947=)
c.5787A>C (p.Ala1929=)
c.5712A>C (p.Ala1904=)
c.5307A>C (p.Ala1769=)
c.4665A>C (p.Ala1555=)
c.2175A>C (p.Ala725=)
n.6090A>C
10g.71785040A>GCA470060773CDH23c.5652A>G (p.Ala1884=)
c.5667A>G (p.Ala1889=)
c.5847A>G (p.Ala1949=)
c.5781A>G (p.Ala1927=)
c.5844A>G (p.Ala1948=)
c.5841A>G (p.Ala1947=)
c.5787A>G (p.Ala1929=)
c.5712A>G (p.Ala1904=)
c.5307A>G (p.Ala1769=)
c.4665A>G (p.Ala1555=)
c.2175A>G (p.Ala725=)
n.6090A>G
10g.71785040A>TCA470060774CDH23c.5652A>T (p.Ala1884=)
c.5667A>T (p.Ala1889=)
c.5847A>T (p.Ala1949=)
c.5781A>T (p.Ala1927=)
c.5844A>T (p.Ala1948=)
c.5841A>T (p.Ala1947=)
c.5787A>T (p.Ala1929=)
c.5712A>T (p.Ala1904=)
c.5307A>T (p.Ala1769=)
c.4665A>T (p.Ala1555=)
c.2175A>T (p.Ala725=)
n.6090A>T
 ClinVar gnomAD v4
10g.71785041C>ACA377146990CDH23c.5653C>A (p.Arg1885Ser)
c.5668C>A (p.Arg1890Ser)
c.5848C>A (p.Arg1950Ser)
c.5782C>A (p.Arg1928Ser)
c.5845C>A (p.Arg1949Ser)
c.5842C>A (p.Arg1948Ser)
c.5788C>A (p.Arg1930Ser)
c.5713C>A (p.Arg1905Ser)
c.5308C>A (p.Arg1770Ser)
c.4666C>A (p.Arg1556Ser)
c.2176C>A (p.Arg726Ser)
n.6091C>A
 dbSNP
10g.71785041C=CA1918862441CDH23c.5653C= (p.Arg1885=)
c.5668C= (p.Arg1890=)
c.5848C= (p.Arg1950=)
c.5782C= (p.Arg1928=)
c.5845C= (p.Arg1949=)
c.5842C= (p.Arg1948=)
c.5788C= (p.Arg1930=)
c.5713C= (p.Arg1905=)
c.5308C= (p.Arg1770=)
c.4666C= (p.Arg1556=)
c.2176C= (p.Arg726=)
n.6091C=
10g.71785041C>GCA377146992CDH23c.5653C>G (p.Arg1885Gly)
c.5668C>G (p.Arg1890Gly)
c.5848C>G (p.Arg1950Gly)
c.5782C>G (p.Arg1928Gly)
c.5845C>G (p.Arg1949Gly)
c.5842C>G (p.Arg1948Gly)
c.5788C>G (p.Arg1930Gly)
c.5713C>G (p.Arg1905Gly)
c.5308C>G (p.Arg1770Gly)
c.4666C>G (p.Arg1556Gly)
c.2176C>G (p.Arg726Gly)
n.6091C>G
10g.71785041C>TCA5545826CDH23c.5653C>T (p.Arg1885Cys)
c.5668C>T (p.Arg1890Cys)
c.5848C>T (p.Arg1950Cys)
c.5782C>T (p.Arg1928Cys)
c.5845C>T (p.Arg1949Cys)
c.5842C>T (p.Arg1948Cys)
c.5788C>T (p.Arg1930Cys)
c.5713C>T (p.Arg1905Cys)
c.5308C>T (p.Arg1770Cys)
c.4666C>T (p.Arg1556Cys)
c.2176C>T (p.Arg726Cys)
n.6091C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71785042G>ACA5545827CDH23c.5654G>A (p.Arg1885His)
c.5669G>A (p.Arg1890His)
c.5849G>A (p.Arg1950His)
c.5783G>A (p.Arg1928His)
c.5846G>A (p.Arg1949His)
c.5843G>A (p.Arg1948His)
c.5789G>A (p.Arg1930His)
c.5714G>A (p.Arg1905His)
c.5309G>A (p.Arg1770His)
c.4667G>A (p.Arg1556His)
c.2177G>A (p.Arg726His)
n.6092G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785042G>CCA377146993CDH23c.5654G>C (p.Arg1885Pro)
c.5669G>C (p.Arg1890Pro)
c.5849G>C (p.Arg1950Pro)
c.5783G>C (p.Arg1928Pro)
c.5846G>C (p.Arg1949Pro)
c.5843G>C (p.Arg1948Pro)
c.5789G>C (p.Arg1930Pro)
c.5714G>C (p.Arg1905Pro)
c.5309G>C (p.Arg1770Pro)
c.4667G>C (p.Arg1556Pro)
c.2177G>C (p.Arg726Pro)
n.6092G>C
10g.71785042G=CA1918862448CDH23c.5654G= (p.Arg1885=)
c.5669G= (p.Arg1890=)
c.5849G= (p.Arg1950=)
c.5783G= (p.Arg1928=)
c.5846G= (p.Arg1949=)
c.5843G= (p.Arg1948=)
c.5789G= (p.Arg1930=)
c.5714G= (p.Arg1905=)
c.5309G= (p.Arg1770=)
c.4667G= (p.Arg1556=)
c.2177G= (p.Arg726=)
n.6092G=
10g.71785042G>TCA377146996CDH23c.5654G>T (p.Arg1885Leu)
c.5669G>T (p.Arg1890Leu)
c.5849G>T (p.Arg1950Leu)
c.5783G>T (p.Arg1928Leu)
c.5846G>T (p.Arg1949Leu)
c.5843G>T (p.Arg1948Leu)
c.5789G>T (p.Arg1930Leu)
c.5714G>T (p.Arg1905Leu)
c.5309G>T (p.Arg1770Leu)
c.4667G>T (p.Arg1556Leu)
c.2177G>T (p.Arg726Leu)
n.6092G>T
 dbSNP gnomAD v4
10g.71785043C>ACA470060777CDH23c.5655C>A (p.Arg1885=)
c.5670C>A (p.Arg1890=)
c.5850C>A (p.Arg1950=)
c.5784C>A (p.Arg1928=)
c.5847C>A (p.Arg1949=)
c.5844C>A (p.Arg1948=)
c.5790C>A (p.Arg1930=)
c.5715C>A (p.Arg1905=)
c.5310C>A (p.Arg1770=)
c.4668C>A (p.Arg1556=)
c.2178C>A (p.Arg726=)
n.6093C>A
10g.71785043C>GCA470060775CDH23c.5655C>G (p.Arg1885=)
c.5670C>G (p.Arg1890=)
c.5850C>G (p.Arg1950=)
c.5784C>G (p.Arg1928=)
c.5847C>G (p.Arg1949=)
c.5844C>G (p.Arg1948=)
c.5790C>G (p.Arg1930=)
c.5715C>G (p.Arg1905=)
c.5310C>G (p.Arg1770=)
c.4668C>G (p.Arg1556=)
c.2178C>G (p.Arg726=)
n.6093C>G
10g.71785043C>TCA470060776CDH23c.5655C>T (p.Arg1885=)
c.5670C>T (p.Arg1890=)
c.5850C>T (p.Arg1950=)
c.5784C>T (p.Arg1928=)
c.5847C>T (p.Arg1949=)
c.5844C>T (p.Arg1948=)
c.5790C>T (p.Arg1930=)
c.5715C>T (p.Arg1905=)
c.5310C>T (p.Arg1770=)
c.4668C>T (p.Arg1556=)
c.2178C>T (p.Arg726=)
n.6093C>T
10g.71785044C>ACA377147000CDH23c.5656C>A (p.Leu1886Ile)
c.5671C>A (p.Leu1891Ile)
c.5851C>A (p.Leu1951Ile)
c.5785C>A (p.Leu1929Ile)
c.5848C>A (p.Leu1950Ile)
c.5845C>A (p.Leu1949Ile)
c.5791C>A (p.Leu1931Ile)
c.5716C>A (p.Leu1906Ile)
c.5311C>A (p.Leu1771Ile)
c.4669C>A (p.Leu1557Ile)
c.2179C>A (p.Leu727Ile)
n.6094C>A
10g.71785044C>GCA377147001CDH23c.5656C>G (p.Leu1886Val)
c.5671C>G (p.Leu1891Val)
c.5851C>G (p.Leu1951Val)
c.5785C>G (p.Leu1929Val)
c.5848C>G (p.Leu1950Val)
c.5845C>G (p.Leu1949Val)
c.5791C>G (p.Leu1931Val)
c.5716C>G (p.Leu1906Val)
c.5311C>G (p.Leu1771Val)
c.4669C>G (p.Leu1557Val)
c.2179C>G (p.Leu727Val)
n.6094C>G
10g.71785044C>TCA377147004CDH23c.5656C>T (p.Leu1886Phe)
c.5671C>T (p.Leu1891Phe)
c.5851C>T (p.Leu1951Phe)
c.5785C>T (p.Leu1929Phe)
c.5848C>T (p.Leu1950Phe)
c.5845C>T (p.Leu1949Phe)
c.5791C>T (p.Leu1931Phe)
c.5716C>T (p.Leu1906Phe)
c.5311C>T (p.Leu1771Phe)
c.4669C>T (p.Leu1557Phe)
c.2179C>T (p.Leu727Phe)
n.6094C>T
 gnomAD v4
10g.71785045T>ACA377147006CDH23c.5657T>A (p.Leu1886His)
c.5672T>A (p.Leu1891His)
c.5852T>A (p.Leu1951His)
c.5786T>A (p.Leu1929His)
c.5849T>A (p.Leu1950His)
c.5846T>A (p.Leu1949His)
c.5792T>A (p.Leu1931His)
c.5717T>A (p.Leu1906His)
c.5312T>A (p.Leu1771His)
c.4670T>A (p.Leu1557His)
c.2180T>A (p.Leu727His)
n.6095T>A
10g.71785045T>CCA377147009CDH23c.5657T>C (p.Leu1886Pro)
c.5672T>C (p.Leu1891Pro)
c.5852T>C (p.Leu1951Pro)
c.5786T>C (p.Leu1929Pro)
c.5849T>C (p.Leu1950Pro)
c.5846T>C (p.Leu1949Pro)
c.5792T>C (p.Leu1931Pro)
c.5717T>C (p.Leu1906Pro)
c.5312T>C (p.Leu1771Pro)
c.4670T>C (p.Leu1557Pro)
c.2180T>C (p.Leu727Pro)
n.6095T>C
10g.71785045T>GCA377147011CDH23c.5657T>G (p.Leu1886Arg)
c.5672T>G (p.Leu1891Arg)
c.5852T>G (p.Leu1951Arg)
c.5786T>G (p.Leu1929Arg)
c.5849T>G (p.Leu1950Arg)
c.5846T>G (p.Leu1949Arg)
c.5792T>G (p.Leu1931Arg)
c.5717T>G (p.Leu1906Arg)
c.5312T>G (p.Leu1771Arg)
c.4670T>G (p.Leu1557Arg)
c.2180T>G (p.Leu727Arg)
n.6095T>G
10g.71785046C>ACA470060778CDH23c.5658C>A (p.Leu1886=)
c.5673C>A (p.Leu1891=)
c.5853C>A (p.Leu1951=)
c.5787C>A (p.Leu1929=)
c.5850C>A (p.Leu1950=)
c.5847C>A (p.Leu1949=)
c.5793C>A (p.Leu1931=)
c.5718C>A (p.Leu1906=)
c.5313C>A (p.Leu1771=)
c.4671C>A (p.Leu1557=)
c.2181C>A (p.Leu727=)
n.6096C>A
10g.71785046C=CA1918862452CDH23c.5658C= (p.Leu1886=)
c.5673C= (p.Leu1891=)
c.5853C= (p.Leu1951=)
c.5787C= (p.Leu1929=)
c.5850C= (p.Leu1950=)
c.5847C= (p.Leu1949=)
c.5793C= (p.Leu1931=)
c.5718C= (p.Leu1906=)
c.5313C= (p.Leu1771=)
c.4671C= (p.Leu1557=)
c.2181C= (p.Leu727=)
n.6096C=
10g.71785046C>GCA470060779CDH23c.5658C>G (p.Leu1886=)
c.5673C>G (p.Leu1891=)
c.5853C>G (p.Leu1951=)
c.5787C>G (p.Leu1929=)
c.5850C>G (p.Leu1950=)
c.5847C>G (p.Leu1949=)
c.5793C>G (p.Leu1931=)
c.5718C>G (p.Leu1906=)
c.5313C>G (p.Leu1771=)
c.4671C>G (p.Leu1557=)
c.2181C>G (p.Leu727=)
n.6096C>G
10g.71785046C>TCA209457561CDH23c.5658C>T (p.Leu1886=)
c.5673C>T (p.Leu1891=)
c.5853C>T (p.Leu1951=)
c.5787C>T (p.Leu1929=)
c.5850C>T (p.Leu1950=)
c.5847C>T (p.Leu1949=)
c.5793C>T (p.Leu1931=)
c.5718C>T (p.Leu1906=)
c.5313C>T (p.Leu1771=)
c.4671C>T (p.Leu1557=)
c.2181C>T (p.Leu727=)
n.6096C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71785047A>CCA377147018CDH23c.5659A>C (p.Thr1887Pro)
c.5674A>C (p.Thr1892Pro)
c.5854A>C (p.Thr1952Pro)
c.5788A>C (p.Thr1930Pro)
c.5851A>C (p.Thr1951Pro)
c.5848A>C (p.Thr1950Pro)
c.5794A>C (p.Thr1932Pro)
c.5719A>C (p.Thr1907Pro)
c.5314A>C (p.Thr1772Pro)
c.4672A>C (p.Thr1558Pro)
c.2182A>C (p.Thr728Pro)
n.6097A>C
10g.71785047A>GCA377147021CDH23c.5659A>G (p.Thr1887Ala)
c.5674A>G (p.Thr1892Ala)
c.5854A>G (p.Thr1952Ala)
c.5788A>G (p.Thr1930Ala)
c.5851A>G (p.Thr1951Ala)
c.5848A>G (p.Thr1950Ala)
c.5794A>G (p.Thr1932Ala)
c.5719A>G (p.Thr1907Ala)
c.5314A>G (p.Thr1772Ala)
c.4672A>G (p.Thr1558Ala)
c.2182A>G (p.Thr728Ala)
n.6097A>G
 gnomAD v4
10g.71785047A>TCA377147024CDH23c.5659A>T (p.Thr1887Ser)
c.5674A>T (p.Thr1892Ser)
c.5854A>T (p.Thr1952Ser)
c.5788A>T (p.Thr1930Ser)
c.5851A>T (p.Thr1951Ser)
c.5848A>T (p.Thr1950Ser)
c.5794A>T (p.Thr1932Ser)
c.5719A>T (p.Thr1907Ser)
c.5314A>T (p.Thr1772Ser)
c.4672A>T (p.Thr1558Ser)
c.2182A>T (p.Thr728Ser)
n.6097A>T
10g.71785048C>ACA377147025CDH23c.5660C>A (p.Thr1887Asn)
c.5675C>A (p.Thr1892Asn)
c.5855C>A (p.Thr1952Asn)
c.5789C>A (p.Thr1930Asn)
c.5852C>A (p.Thr1951Asn)
c.5849C>A (p.Thr1950Asn)
c.5795C>A (p.Thr1932Asn)
c.5720C>A (p.Thr1907Asn)
c.5315C>A (p.Thr1772Asn)
c.4673C>A (p.Thr1558Asn)
c.2183C>A (p.Thr728Asn)
n.6098C>A
 gnomAD v4
10g.71785048C=CA1918862460CDH23c.5660C= (p.Thr1887=)
c.5675C= (p.Thr1892=)
c.5855C= (p.Thr1952=)
c.5789C= (p.Thr1930=)
c.5852C= (p.Thr1951=)
c.5849C= (p.Thr1950=)
c.5795C= (p.Thr1932=)
c.5720C= (p.Thr1907=)
c.5315C= (p.Thr1772=)
c.4673C= (p.Thr1558=)
c.2183C= (p.Thr728=)
n.6098C=
10g.71785048C>GCA377147026CDH23c.5660C>G (p.Thr1887Ser)
c.5675C>G (p.Thr1892Ser)
c.5855C>G (p.Thr1952Ser)
c.5789C>G (p.Thr1930Ser)
c.5852C>G (p.Thr1951Ser)
c.5849C>G (p.Thr1950Ser)
c.5795C>G (p.Thr1932Ser)
c.5720C>G (p.Thr1907Ser)
c.5315C>G (p.Thr1772Ser)
c.4673C>G (p.Thr1558Ser)
c.2183C>G (p.Thr728Ser)
n.6098C>G
10g.71785048C>TCA137502CDH23c.5660C>T (p.Thr1887Ile)
c.5675C>T (p.Thr1892Ile)
c.5855C>T (p.Thr1952Ile)
c.5789C>T (p.Thr1930Ile)
c.5852C>T (p.Thr1951Ile)
c.5849C>T (p.Thr1950Ile)
c.5795C>T (p.Thr1932Ile)
c.5720C>T (p.Thr1907Ile)
c.5315C>T (p.Thr1772Ile)
c.4673C>T (p.Thr1558Ile)
c.2183C>T (p.Thr728Ile)
n.6098C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71785049C>ACA470060781CDH23c.5661C>A (p.Thr1887=)
c.5676C>A (p.Thr1892=)
c.5856C>A (p.Thr1952=)
c.5790C>A (p.Thr1930=)
c.5853C>A (p.Thr1951=)
c.5850C>A (p.Thr1950=)
c.5796C>A (p.Thr1932=)
c.5721C>A (p.Thr1907=)
c.5316C>A (p.Thr1772=)
c.4674C>A (p.Thr1558=)
c.2184C>A (p.Thr728=)
n.6099C>A
10g.71785049C=CA1918862470CDH23c.5661C= (p.Thr1887=)
c.5676C= (p.Thr1892=)
c.5856C= (p.Thr1952=)
c.5790C= (p.Thr1930=)
c.5853C= (p.Thr1951=)
c.5850C= (p.Thr1950=)
c.5796C= (p.Thr1932=)
c.5721C= (p.Thr1907=)
c.5316C= (p.Thr1772=)
c.4674C= (p.Thr1558=)
c.2184C= (p.Thr728=)
n.6099C=
10g.71785049C>GCA470060780CDH23c.5661C>G (p.Thr1887=)
c.5676C>G (p.Thr1892=)
c.5856C>G (p.Thr1952=)
c.5790C>G (p.Thr1930=)
c.5853C>G (p.Thr1951=)
c.5850C>G (p.Thr1950=)
c.5796C>G (p.Thr1932=)
c.5721C>G (p.Thr1907=)
c.5316C>G (p.Thr1772=)
c.4674C>G (p.Thr1558=)
c.2184C>G (p.Thr728=)
n.6099C>G
10g.71785049C>TCA209457579CDH23c.5661C>T (p.Thr1887=)
c.5676C>T (p.Thr1892=)
c.5856C>T (p.Thr1952=)
c.5790C>T (p.Thr1930=)
c.5853C>T (p.Thr1951=)
c.5850C>T (p.Thr1950=)
c.5796C>T (p.Thr1932=)
c.5721C>T (p.Thr1907=)
c.5316C>T (p.Thr1772=)
c.4674C>T (p.Thr1558=)
c.2184C>T (p.Thr728=)
n.6099C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71785050T>ACA377147028CDH23c.5662T>A (p.Phe1888Ile)
c.5677T>A (p.Phe1893Ile)
c.5857T>A (p.Phe1953Ile)
c.5791T>A (p.Phe1931Ile)
c.5854T>A (p.Phe1952Ile)
c.5851T>A (p.Phe1951Ile)
c.5797T>A (p.Phe1933Ile)
c.5722T>A (p.Phe1908Ile)
c.5317T>A (p.Phe1773Ile)
c.4675T>A (p.Phe1559Ile)
c.2185T>A (p.Phe729Ile)
n.6100T>A
10g.71785050T>CCA377147030CDH23c.5662T>C (p.Phe1888Leu)
c.5677T>C (p.Phe1893Leu)
c.5857T>C (p.Phe1953Leu)
c.5791T>C (p.Phe1931Leu)
c.5854T>C (p.Phe1952Leu)
c.5851T>C (p.Phe1951Leu)
c.5797T>C (p.Phe1933Leu)
c.5722T>C (p.Phe1908Leu)
c.5317T>C (p.Phe1773Leu)
c.4675T>C (p.Phe1559Leu)
c.2185T>C (p.Phe729Leu)
n.6100T>C
10g.71785050T>GCA377147029CDH23c.5662T>G (p.Phe1888Val)
c.5677T>G (p.Phe1893Val)
c.5857T>G (p.Phe1953Val)
c.5791T>G (p.Phe1931Val)
c.5854T>G (p.Phe1952Val)
c.5851T>G (p.Phe1951Val)
c.5797T>G (p.Phe1933Val)
c.5722T>G (p.Phe1908Val)
c.5317T>G (p.Phe1773Val)
c.4675T>G (p.Phe1559Val)
c.2185T>G (p.Phe729Val)
n.6100T>G
10g.71785051T>ACA377147031CDH23c.5663T>A (p.Phe1888Tyr)
c.5678T>A (p.Phe1893Tyr)
c.5858T>A (p.Phe1953Tyr)
c.5792T>A (p.Phe1931Tyr)
c.5855T>A (p.Phe1952Tyr)
c.5852T>A (p.Phe1951Tyr)
c.5798T>A (p.Phe1933Tyr)
c.5723T>A (p.Phe1908Tyr)
c.5318T>A (p.Phe1773Tyr)
c.4676T>A (p.Phe1559Tyr)
c.2186T>A (p.Phe729Tyr)
n.6101T>A
10g.71785051T>CCA253336CDH23c.5663T>C (p.Phe1888Ser)
c.5678T>C (p.Phe1893Ser)
c.5858T>C (p.Phe1953Ser)
c.5792T>C (p.Phe1931Ser)
c.5855T>C (p.Phe1952Ser)
c.5852T>C (p.Phe1951Ser)
c.5798T>C (p.Phe1933Ser)
c.5723T>C (p.Phe1908Ser)
c.5318T>C (p.Phe1773Ser)
c.4676T>C (p.Phe1559Ser)
c.2186T>C (p.Phe729Ser)
n.6101T>C
 ClinVar dbSNP gnomAD v4
10g.71785051T>GCA377147032CDH23c.5663T>G (p.Phe1888Cys)
c.5678T>G (p.Phe1893Cys)
c.5858T>G (p.Phe1953Cys)
c.5792T>G (p.Phe1931Cys)
c.5855T>G (p.Phe1952Cys)
c.5852T>G (p.Phe1951Cys)
c.5798T>G (p.Phe1933Cys)
c.5723T>G (p.Phe1908Cys)
c.5318T>G (p.Phe1773Cys)
c.4676T>G (p.Phe1559Cys)
c.2186T>G (p.Phe729Cys)
n.6101T>G
10g.71785051T=CA1918862478CDH23c.5663T= (p.Phe1888=)
c.5678T= (p.Phe1893=)
c.5858T= (p.Phe1953=)
c.5792T= (p.Phe1931=)
c.5855T= (p.Phe1952=)
c.5852T= (p.Phe1951=)
c.5798T= (p.Phe1933=)
c.5723T= (p.Phe1908=)
c.5318T= (p.Phe1773=)
c.4676T= (p.Phe1559=)
c.2186T= (p.Phe729=)
n.6101T=
10g.71785051_71785054delCA2609543977CDH23c.5663_5666del (p.Phe1888SerfsTer22)
c.5678_5681del (p.Phe1893SerfsTer22)
c.5858_5861del (p.Phe1953SerfsTer22)
c.5792_5795del (p.Phe1931SerfsTer22)
c.5855_5858del (p.Phe1952SerfsTer22)
c.5852_5855del (p.Phe1951SerfsTer22)
c.5798_5801del (p.Phe1933SerfsTer22)
c.5723_5726del (p.Phe1908SerfsTer22)
c.5318_5321del (p.Phe1773SerfsTer22)
c.4676_4679del (p.Phe1559SerfsTer22)
c.2186_2189del (p.Phe729SerfsTer22)
n.6101_6104del
 gnomAD v4
10g.71785052C>ACA377147034CDH23c.5664C>A (p.Phe1888Leu)
c.5679C>A (p.Phe1893Leu)
c.5859C>A (p.Phe1953Leu)
c.5793C>A (p.Phe1931Leu)
c.5856C>A (p.Phe1952Leu)
c.5853C>A (p.Phe1951Leu)
c.5799C>A (p.Phe1933Leu)
c.5724C>A (p.Phe1908Leu)
c.5319C>A (p.Phe1773Leu)
c.4677C>A (p.Phe1559Leu)
c.2187C>A (p.Phe729Leu)
n.6102C>A
10g.71785052C>GCA377147035CDH23c.5664C>G (p.Phe1888Leu)
c.5679C>G (p.Phe1893Leu)
c.5859C>G (p.Phe1953Leu)
c.5793C>G (p.Phe1931Leu)
c.5856C>G (p.Phe1952Leu)
c.5853C>G (p.Phe1951Leu)
c.5799C>G (p.Phe1933Leu)
c.5724C>G (p.Phe1908Leu)
c.5319C>G (p.Phe1773Leu)
c.4677C>G (p.Phe1559Leu)
c.2187C>G (p.Phe729Leu)
n.6102C>G
10g.71785052C>TCA470060782CDH23c.5664C>T (p.Phe1888=)
c.5679C>T (p.Phe1893=)
c.5859C>T (p.Phe1953=)
c.5793C>T (p.Phe1931=)
c.5856C>T (p.Phe1952=)
c.5853C>T (p.Phe1951=)
c.5799C>T (p.Phe1933=)
c.5724C>T (p.Phe1908=)
c.5319C>T (p.Phe1773=)
c.4677C>T (p.Phe1559=)
c.2187C>T (p.Phe729=)
n.6102C>T
 ClinVar gnomAD v4 COSMIC
10g.71785053A>CCA377147039CDH23c.5665A>C (p.Asn1889His)
c.5680A>C (p.Asn1894His)
c.5860A>C (p.Asn1954His)
c.5794A>C (p.Asn1932His)
c.5857A>C (p.Asn1953His)
c.5854A>C (p.Asn1952His)
c.5800A>C (p.Asn1934His)
c.5725A>C (p.Asn1909His)
c.5320A>C (p.Asn1774His)
c.4678A>C (p.Asn1560His)
c.2188A>C (p.Asn730His)
n.6103A>C
10g.71785053A>GCA377147040CDH23c.5665A>G (p.Asn1889Asp)
c.5680A>G (p.Asn1894Asp)
c.5860A>G (p.Asn1954Asp)
c.5794A>G (p.Asn1932Asp)
c.5857A>G (p.Asn1953Asp)
c.5854A>G (p.Asn1952Asp)
c.5800A>G (p.Asn1934Asp)
c.5725A>G (p.Asn1909Asp)
c.5320A>G (p.Asn1774Asp)
c.4678A>G (p.Asn1560Asp)
c.2188A>G (p.Asn730Asp)
n.6103A>G
10g.71785053A>TCA377147042CDH23c.5665A>T (p.Asn1889Tyr)
c.5680A>T (p.Asn1894Tyr)
c.5860A>T (p.Asn1954Tyr)
c.5794A>T (p.Asn1932Tyr)
c.5857A>T (p.Asn1953Tyr)
c.5854A>T (p.Asn1952Tyr)
c.5800A>T (p.Asn1934Tyr)
c.5725A>T (p.Asn1909Tyr)
c.5320A>T (p.Asn1774Tyr)
c.4678A>T (p.Asn1560Tyr)
c.2188A>T (p.Asn730Tyr)
n.6103A>T
10g.71785054A>CCA377147044CDH23c.5666A>C (p.Asn1889Thr)
c.5681A>C (p.Asn1894Thr)
c.5861A>C (p.Asn1954Thr)
c.5795A>C (p.Asn1932Thr)
c.5858A>C (p.Asn1953Thr)
c.5855A>C (p.Asn1952Thr)
c.5801A>C (p.Asn1934Thr)
c.5726A>C (p.Asn1909Thr)
c.5321A>C (p.Asn1774Thr)
c.4679A>C (p.Asn1560Thr)
c.2189A>C (p.Asn730Thr)
n.6104A>C
10g.71785054A>GCA377147046CDH23c.5666A>G (p.Asn1889Ser)
c.5681A>G (p.Asn1894Ser)
c.5861A>G (p.Asn1954Ser)
c.5795A>G (p.Asn1932Ser)
c.5858A>G (p.Asn1953Ser)
c.5855A>G (p.Asn1952Ser)
c.5801A>G (p.Asn1934Ser)
c.5726A>G (p.Asn1909Ser)
c.5321A>G (p.Asn1774Ser)
c.4679A>G (p.Asn1560Ser)
c.2189A>G (p.Asn730Ser)
n.6104A>G
10g.71785054A>TCA377147050CDH23c.5666A>T (p.Asn1889Ile)
c.5681A>T (p.Asn1894Ile)
c.5861A>T (p.Asn1954Ile)
c.5795A>T (p.Asn1932Ile)
c.5858A>T (p.Asn1953Ile)
c.5855A>T (p.Asn1952Ile)
c.5801A>T (p.Asn1934Ile)
c.5726A>T (p.Asn1909Ile)
c.5321A>T (p.Asn1774Ile)
c.4679A>T (p.Asn1560Ile)
c.2189A>T (p.Asn730Ile)
n.6104A>T
10g.71785054_71785055delinsACCA1918862486CDH23c.5666_5667delinsAC (p.Asn1889=)
c.5681_5682delinsAC (p.Asn1894=)
c.5861_5862delinsAC (p.Asn1954=)
c.5795_5796delinsAC (p.Asn1932=)
c.5858_5859delinsAC (p.Asn1953=)
c.5855_5856delinsAC (p.Asn1952=)
c.5801_5802delinsAC (p.Asn1934=)
c.5726_5727delinsAC (p.Asn1909=)
c.5321_5322delinsAC (p.Asn1774=)
c.4679_4680delinsAC (p.Asn1560=)
c.2189_2190delinsAC (p.Asn730=)
n.6104_6105delinsAC
10g.71785055delCA594706072CDH23c.5667del (p.Asn1889LysfsTer22)
c.5682del (p.Asn1894LysfsTer22)
c.5862del (p.Asn1954LysfsTer22)
c.5796del (p.Asn1932LysfsTer22)
c.5859del (p.Asn1953LysfsTer22)
c.5856del (p.Asn1952LysfsTer22)
c.5802del (p.Asn1934LysfsTer22)
c.5727del (p.Asn1909LysfsTer22)
c.5322del (p.Asn1774LysfsTer22)
c.4680del (p.Asn1560LysfsTer22)
c.2190del (p.Asn730LysfsTer22)
n.6105del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71785055C>ACA377147052CDH23c.5667C>A (p.Asn1889Lys)
c.5682C>A (p.Asn1894Lys)
c.5862C>A (p.Asn1954Lys)
c.5796C>A (p.Asn1932Lys)
c.5859C>A (p.Asn1953Lys)
c.5856C>A (p.Asn1952Lys)
c.5802C>A (p.Asn1934Lys)
c.5727C>A (p.Asn1909Lys)
c.5322C>A (p.Asn1774Lys)
c.4680C>A (p.Asn1560Lys)
c.2190C>A (p.Asn730Lys)
n.6105C>A
 COSMIC
10g.71785055C=CA1918862499CDH23c.5667C= (p.Asn1889=)
c.5682C= (p.Asn1894=)
c.5862C= (p.Asn1954=)
c.5796C= (p.Asn1932=)
c.5859C= (p.Asn1953=)
c.5856C= (p.Asn1952=)
c.5802C= (p.Asn1934=)
c.5727C= (p.Asn1909=)
c.5322C= (p.Asn1774=)
c.4680C= (p.Asn1560=)
c.2190C= (p.Asn730=)
n.6105C=
10g.71785055C>GCA377147051CDH23c.5667C>G (p.Asn1889Lys)
c.5682C>G (p.Asn1894Lys)
c.5862C>G (p.Asn1954Lys)
c.5796C>G (p.Asn1932Lys)
c.5859C>G (p.Asn1953Lys)
c.5856C>G (p.Asn1952Lys)
c.5802C>G (p.Asn1934Lys)
c.5727C>G (p.Asn1909Lys)
c.5322C>G (p.Asn1774Lys)
c.4680C>G (p.Asn1560Lys)
c.2190C>G (p.Asn730Lys)
n.6105C>G
10g.71785055C>TCA5545828CDH23c.5667C>T (p.Asn1889=)
c.5682C>T (p.Asn1894=)
c.5862C>T (p.Asn1954=)
c.5796C>T (p.Asn1932=)
c.5859C>T (p.Asn1953=)
c.5856C>T (p.Asn1952=)
c.5802C>T (p.Asn1934=)
c.5727C>T (p.Asn1909=)
c.5322C>T (p.Asn1774=)
c.4680C>T (p.Asn1560=)
c.2190C>T (p.Asn730=)
n.6105C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785056A=CA1918862512CDH23c.5668A= (p.Ile1890=)
c.5683A= (p.Ile1895=)
c.5863A= (p.Ile1955=)
c.5797A= (p.Ile1933=)
c.5860A= (p.Ile1954=)
c.5857A= (p.Ile1953=)
c.5803A= (p.Ile1935=)
c.5728A= (p.Ile1910=)
c.5323A= (p.Ile1775=)
c.4681A= (p.Ile1561=)
c.2191A= (p.Ile731=)
n.6106A=
10g.71785056A>CCA377147055CDH23c.5668A>C (p.Ile1890Leu)
c.5683A>C (p.Ile1895Leu)
c.5863A>C (p.Ile1955Leu)
c.5797A>C (p.Ile1933Leu)
c.5860A>C (p.Ile1954Leu)
c.5857A>C (p.Ile1953Leu)
c.5803A>C (p.Ile1935Leu)
c.5728A>C (p.Ile1910Leu)
c.5323A>C (p.Ile1775Leu)
c.4681A>C (p.Ile1561Leu)
c.2191A>C (p.Ile731Leu)
n.6106A>C
10g.71785056A>GCA377147056CDH23c.5668A>G (p.Ile1890Val)
c.5683A>G (p.Ile1895Val)
c.5863A>G (p.Ile1955Val)
c.5797A>G (p.Ile1933Val)
c.5860A>G (p.Ile1954Val)
c.5857A>G (p.Ile1953Val)
c.5803A>G (p.Ile1935Val)
c.5728A>G (p.Ile1910Val)
c.5323A>G (p.Ile1775Val)
c.4681A>G (p.Ile1561Val)
c.2191A>G (p.Ile731Val)
n.6106A>G
10g.71785056A>TCA377147060CDH23c.5668A>T (p.Ile1890Phe)
c.5683A>T (p.Ile1895Phe)
c.5863A>T (p.Ile1955Phe)
c.5797A>T (p.Ile1933Phe)
c.5860A>T (p.Ile1954Phe)
c.5857A>T (p.Ile1953Phe)
c.5803A>T (p.Ile1935Phe)
c.5728A>T (p.Ile1910Phe)
c.5323A>T (p.Ile1775Phe)
c.4681A>T (p.Ile1561Phe)
c.2191A>T (p.Ile731Phe)
n.6106A>T
 ClinVar dbSNP
10g.71785057T>ACA377147062CDH23c.5669T>A (p.Ile1890Asn)
c.5684T>A (p.Ile1895Asn)
c.5864T>A (p.Ile1955Asn)
c.5798T>A (p.Ile1933Asn)
c.5861T>A (p.Ile1954Asn)
c.5858T>A (p.Ile1953Asn)
c.5804T>A (p.Ile1935Asn)
c.5729T>A (p.Ile1910Asn)
c.5324T>A (p.Ile1775Asn)
c.4682T>A (p.Ile1561Asn)
c.2192T>A (p.Ile731Asn)
n.6107T>A
10g.71785057T>CCA377147065CDH23c.5669T>C (p.Ile1890Thr)
c.5684T>C (p.Ile1895Thr)
c.5864T>C (p.Ile1955Thr)
c.5798T>C (p.Ile1933Thr)
c.5861T>C (p.Ile1954Thr)
c.5858T>C (p.Ile1953Thr)
c.5804T>C (p.Ile1935Thr)
c.5729T>C (p.Ile1910Thr)
c.5324T>C (p.Ile1775Thr)
c.4682T>C (p.Ile1561Thr)
c.2192T>C (p.Ile731Thr)
n.6107T>C
 gnomAD v4
10g.71785057T>GCA377147067CDH23c.5669T>G (p.Ile1890Ser)
c.5684T>G (p.Ile1895Ser)
c.5864T>G (p.Ile1955Ser)
c.5798T>G (p.Ile1933Ser)
c.5861T>G (p.Ile1954Ser)
c.5858T>G (p.Ile1953Ser)
c.5804T>G (p.Ile1935Ser)
c.5729T>G (p.Ile1910Ser)
c.5324T>G (p.Ile1775Ser)
c.4682T>G (p.Ile1561Ser)
c.2192T>G (p.Ile731Ser)
n.6107T>G
10g.71785058C>ACA470060783CDH23c.5670C>A (p.Ile1890=)
c.5685C>A (p.Ile1895=)
c.5865C>A (p.Ile1955=)
c.5799C>A (p.Ile1933=)
c.5862C>A (p.Ile1954=)
c.5859C>A (p.Ile1953=)
c.5805C>A (p.Ile1935=)
c.5730C>A (p.Ile1910=)
c.5325C>A (p.Ile1775=)
c.4683C>A (p.Ile1561=)
c.2193C>A (p.Ile731=)
n.6108C>A
10g.71785058C>GCA377147068CDH23c.5670C>G (p.Ile1890Met)
c.5685C>G (p.Ile1895Met)
c.5865C>G (p.Ile1955Met)
c.5799C>G (p.Ile1933Met)
c.5862C>G (p.Ile1954Met)
c.5859C>G (p.Ile1953Met)
c.5805C>G (p.Ile1935Met)
c.5730C>G (p.Ile1910Met)
c.5325C>G (p.Ile1775Met)
c.4683C>G (p.Ile1561Met)
c.2193C>G (p.Ile731Met)
n.6108C>G
10g.71785058C>TCA470060784CDH23c.5670C>T (p.Ile1890=)
c.5685C>T (p.Ile1895=)
c.5865C>T (p.Ile1955=)
c.5799C>T (p.Ile1933=)
c.5862C>T (p.Ile1954=)
c.5859C>T (p.Ile1953=)
c.5805C>T (p.Ile1935=)
c.5730C>T (p.Ile1910=)
c.5325C>T (p.Ile1775=)
c.4683C>T (p.Ile1561=)
c.2193C>T (p.Ile731=)
n.6108C>T
10g.71785059A>CCA377147069CDH23c.5671A>C (p.Thr1891Pro)
c.5686A>C (p.Thr1896Pro)
c.5866A>C (p.Thr1956Pro)
c.5800A>C (p.Thr1934Pro)
c.5863A>C (p.Thr1955Pro)
c.5860A>C (p.Thr1954Pro)
c.5806A>C (p.Thr1936Pro)
c.5731A>C (p.Thr1911Pro)
c.5326A>C (p.Thr1776Pro)
c.4684A>C (p.Thr1562Pro)
c.2194A>C (p.Thr732Pro)
n.6109A>C
10g.71785059A>GCA377147070CDH23c.5671A>G (p.Thr1891Ala)
c.5686A>G (p.Thr1896Ala)
c.5866A>G (p.Thr1956Ala)
c.5800A>G (p.Thr1934Ala)
c.5863A>G (p.Thr1955Ala)
c.5860A>G (p.Thr1954Ala)
c.5806A>G (p.Thr1936Ala)
c.5731A>G (p.Thr1911Ala)
c.5326A>G (p.Thr1776Ala)
c.4684A>G (p.Thr1562Ala)
c.2194A>G (p.Thr732Ala)
n.6109A>G
 gnomAD v4
10g.71785059A>TCA377147072CDH23c.5671A>T (p.Thr1891Ser)
c.5686A>T (p.Thr1896Ser)
c.5866A>T (p.Thr1956Ser)
c.5800A>T (p.Thr1934Ser)
c.5863A>T (p.Thr1955Ser)
c.5860A>T (p.Thr1954Ser)
c.5806A>T (p.Thr1936Ser)
c.5731A>T (p.Thr1911Ser)
c.5326A>T (p.Thr1776Ser)
c.4684A>T (p.Thr1562Ser)
c.2194A>T (p.Thr732Ser)
n.6109A>T
10g.71785060C>ACA377147075CDH23c.5672C>A (p.Thr1891Asn)
c.5687C>A (p.Thr1896Asn)
c.5867C>A (p.Thr1956Asn)
c.5801C>A (p.Thr1934Asn)
c.5864C>A (p.Thr1955Asn)
c.5861C>A (p.Thr1954Asn)
c.5807C>A (p.Thr1936Asn)
c.5732C>A (p.Thr1911Asn)
c.5327C>A (p.Thr1776Asn)
c.4685C>A (p.Thr1562Asn)
c.2195C>A (p.Thr732Asn)
n.6110C>A
10g.71785060C=CA1918862518CDH23c.5672C= (p.Thr1891=)
c.5687C= (p.Thr1896=)
c.5867C= (p.Thr1956=)
c.5801C= (p.Thr1934=)
c.5864C= (p.Thr1955=)
c.5861C= (p.Thr1954=)
c.5807C= (p.Thr1936=)
c.5732C= (p.Thr1911=)
c.5327C= (p.Thr1776=)
c.4685C= (p.Thr1562=)
c.2195C= (p.Thr732=)
n.6110C=
10g.71785060C>GCA377147077CDH23c.5672C>G (p.Thr1891Ser)
c.5687C>G (p.Thr1896Ser)
c.5867C>G (p.Thr1956Ser)
c.5801C>G (p.Thr1934Ser)
c.5864C>G (p.Thr1955Ser)
c.5861C>G (p.Thr1954Ser)
c.5807C>G (p.Thr1936Ser)
c.5732C>G (p.Thr1911Ser)
c.5327C>G (p.Thr1776Ser)
c.4685C>G (p.Thr1562Ser)
c.2195C>G (p.Thr732Ser)
n.6110C>G
 dbSNP gnomAD v4
10g.71785060C>TCA377147078CDH23c.5672C>T (p.Thr1891Ile)
c.5687C>T (p.Thr1896Ile)
c.5867C>T (p.Thr1956Ile)
c.5801C>T (p.Thr1934Ile)
c.5864C>T (p.Thr1955Ile)
c.5861C>T (p.Thr1954Ile)
c.5807C>T (p.Thr1936Ile)
c.5732C>T (p.Thr1911Ile)
c.5327C>T (p.Thr1776Ile)
c.4685C>T (p.Thr1562Ile)
c.2195C>T (p.Thr732Ile)
n.6110C>T
 dbSNP gnomAD v4
10g.71785061T>ACA470060785CDH23c.5673T>A (p.Thr1891=)
c.5688T>A (p.Thr1896=)
c.5868T>A (p.Thr1956=)
c.5802T>A (p.Thr1934=)
c.5865T>A (p.Thr1955=)
c.5862T>A (p.Thr1954=)
c.5808T>A (p.Thr1936=)
c.5733T>A (p.Thr1911=)
c.5328T>A (p.Thr1776=)
c.4686T>A (p.Thr1562=)
c.2196T>A (p.Thr732=)
n.6111T>A
10g.71785061T>CCA5545829CDH23c.5673T>C (p.Thr1891=)
c.5688T>C (p.Thr1896=)
c.5868T>C (p.Thr1956=)
c.5802T>C (p.Thr1934=)
c.5865T>C (p.Thr1955=)
c.5862T>C (p.Thr1954=)
c.5808T>C (p.Thr1936=)
c.5733T>C (p.Thr1911=)
c.5328T>C (p.Thr1776=)
c.4686T>C (p.Thr1562=)
c.2196T>C (p.Thr732=)
n.6111T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785061T>GCA470060786CDH23c.5673T>G (p.Thr1891=)
c.5688T>G (p.Thr1896=)
c.5868T>G (p.Thr1956=)
c.5802T>G (p.Thr1934=)
c.5865T>G (p.Thr1955=)
c.5862T>G (p.Thr1954=)
c.5808T>G (p.Thr1936=)
c.5733T>G (p.Thr1911=)
c.5328T>G (p.Thr1776=)
c.4686T>G (p.Thr1562=)
c.2196T>G (p.Thr732=)
n.6111T>G
10g.71785061T=CA1918862527CDH23c.5673T= (p.Thr1891=)
c.5688T= (p.Thr1896=)
c.5868T= (p.Thr1956=)
c.5802T= (p.Thr1934=)
c.5865T= (p.Thr1955=)
c.5862T= (p.Thr1954=)
c.5808T= (p.Thr1936=)
c.5733T= (p.Thr1911=)
c.5328T= (p.Thr1776=)
c.4686T= (p.Thr1562=)
c.2196T= (p.Thr732=)
n.6111T=
10g.71785062G>ACA184937CDH23c.5674G>A (p.Ala1892Thr)
c.5689G>A (p.Ala1897Thr)
c.5869G>A (p.Ala1957Thr)
c.5803G>A (p.Ala1935Thr)
c.5866G>A (p.Ala1956Thr)
c.5863G>A (p.Ala1955Thr)
c.5809G>A (p.Ala1937Thr)
c.5734G>A (p.Ala1912Thr)
c.5329G>A (p.Ala1777Thr)
c.4687G>A (p.Ala1563Thr)
c.2197G>A (p.Ala733Thr)
n.6112G>A
 ClinVar dbSNP gnomAD v4
10g.71785062G>CCA377147083CDH23c.5674G>C (p.Ala1892Pro)
c.5689G>C (p.Ala1897Pro)
c.5869G>C (p.Ala1957Pro)
c.5803G>C (p.Ala1935Pro)
c.5866G>C (p.Ala1956Pro)
c.5863G>C (p.Ala1955Pro)
c.5809G>C (p.Ala1937Pro)
c.5734G>C (p.Ala1912Pro)
c.5329G>C (p.Ala1777Pro)
c.4687G>C (p.Ala1563Pro)
c.2197G>C (p.Ala733Pro)
n.6112G>C
10g.71785062G=CA1918862536CDH23c.5674G= (p.Ala1892=)
c.5689G= (p.Ala1897=)
c.5869G= (p.Ala1957=)
c.5803G= (p.Ala1935=)
c.5866G= (p.Ala1956=)
c.5863G= (p.Ala1955=)
c.5809G= (p.Ala1937=)
c.5734G= (p.Ala1912=)
c.5329G= (p.Ala1777=)
c.4687G= (p.Ala1563=)
c.2197G= (p.Ala733=)
n.6112G=
10g.71785062G>TCA5545830CDH23c.5674G>T (p.Ala1892Ser)
c.5689G>T (p.Ala1897Ser)
c.5869G>T (p.Ala1957Ser)
c.5803G>T (p.Ala1935Ser)
c.5866G>T (p.Ala1956Ser)
c.5863G>T (p.Ala1955Ser)
c.5809G>T (p.Ala1937Ser)
c.5734G>T (p.Ala1912Ser)
c.5329G>T (p.Ala1777Ser)
c.4687G>T (p.Ala1563Ser)
c.2197G>T (p.Ala733Ser)
n.6112G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785063C>ACA377147086CDH23c.5675C>A (p.Ala1892Glu)
c.5690C>A (p.Ala1897Glu)
c.5870C>A (p.Ala1957Glu)
c.5804C>A (p.Ala1935Glu)
c.5867C>A (p.Ala1956Glu)
c.5864C>A (p.Ala1955Glu)
c.5810C>A (p.Ala1937Glu)
c.5735C>A (p.Ala1912Glu)
c.5330C>A (p.Ala1777Glu)
c.4688C>A (p.Ala1563Glu)
c.2198C>A (p.Ala733Glu)
n.6113C>A
10g.71785063C=CA1918862545CDH23c.5675C= (p.Ala1892=)
c.5690C= (p.Ala1897=)
c.5870C= (p.Ala1957=)
c.5804C= (p.Ala1935=)
c.5867C= (p.Ala1956=)
c.5864C= (p.Ala1955=)
c.5810C= (p.Ala1937=)
c.5735C= (p.Ala1912=)
c.5330C= (p.Ala1777=)
c.4688C= (p.Ala1563=)
c.2198C= (p.Ala733=)
n.6113C=
10g.71785063C>GCA377147087CDH23c.5675C>G (p.Ala1892Gly)
c.5690C>G (p.Ala1897Gly)
c.5870C>G (p.Ala1957Gly)
c.5804C>G (p.Ala1935Gly)
c.5867C>G (p.Ala1956Gly)
c.5864C>G (p.Ala1955Gly)
c.5810C>G (p.Ala1937Gly)
c.5735C>G (p.Ala1912Gly)
c.5330C>G (p.Ala1777Gly)
c.4688C>G (p.Ala1563Gly)
c.2198C>G (p.Ala733Gly)
n.6113C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71785063C>TCA5545831CDH23c.5675C>T (p.Ala1892Val)
c.5690C>T (p.Ala1897Val)
c.5870C>T (p.Ala1957Val)
c.5804C>T (p.Ala1935Val)
c.5867C>T (p.Ala1956Val)
c.5864C>T (p.Ala1955Val)
c.5810C>T (p.Ala1937Val)
c.5735C>T (p.Ala1912Val)
c.5330C>T (p.Ala1777Val)
c.4688C>T (p.Ala1563Val)
c.2198C>T (p.Ala733Val)
n.6113C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71785064G>ACA5545832CDH23c.5676G>A (p.Ala1892=)
c.5691G>A (p.Ala1897=)
c.5871G>A (p.Ala1957=)
c.5805G>A (p.Ala1935=)
c.5868G>A (p.Ala1956=)
c.5865G>A (p.Ala1955=)
c.5811G>A (p.Ala1937=)
c.5736G>A (p.Ala1912=)
c.5331G>A (p.Ala1777=)
c.4689G>A (p.Ala1563=)
c.2199G>A (p.Ala733=)
n.6114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785064G>CCA470060787CDH23c.5676G>C (p.Ala1892=)
c.5691G>C (p.Ala1897=)
c.5871G>C (p.Ala1957=)
c.5805G>C (p.Ala1935=)
c.5868G>C (p.Ala1956=)
c.5865G>C (p.Ala1955=)
c.5811G>C (p.Ala1937=)
c.5736G>C (p.Ala1912=)
c.5331G>C (p.Ala1777=)
c.4689G>C (p.Ala1563=)
c.2199G>C (p.Ala733=)
n.6114G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71785064G=CA1918862560CDH23c.5676G= (p.Ala1892=)
c.5691G= (p.Ala1897=)
c.5871G= (p.Ala1957=)
c.5805G= (p.Ala1935=)
c.5868G= (p.Ala1956=)
c.5865G= (p.Ala1955=)
c.5811G= (p.Ala1937=)
c.5736G= (p.Ala1912=)
c.5331G= (p.Ala1777=)
c.4689G= (p.Ala1563=)
c.2199G= (p.Ala733=)
n.6114G=
10g.71785064G>TCA470060788CDH23c.5676G>T (p.Ala1892=)
c.5691G>T (p.Ala1897=)
c.5871G>T (p.Ala1957=)
c.5805G>T (p.Ala1935=)
c.5868G>T (p.Ala1956=)
c.5865G>T (p.Ala1955=)
c.5811G>T (p.Ala1937=)
c.5736G>T (p.Ala1912=)
c.5331G>T (p.Ala1777=)
c.4689G>T (p.Ala1563=)
c.2199G>T (p.Ala733=)
n.6114G>T
10g.71785065G>ACA377147090CDH23c.5677G>A (p.Gly1893Ser)
c.5692G>A (p.Gly1898Ser)
c.5872G>A (p.Gly1958Ser)
c.5806G>A (p.Gly1936Ser)
c.5869G>A (p.Gly1957Ser)
c.5866G>A (p.Gly1956Ser)
c.5812G>A (p.Gly1938Ser)
c.5737G>A (p.Gly1913Ser)
c.5332G>A (p.Gly1778Ser)
c.4690G>A (p.Gly1564Ser)
c.2200G>A (p.Gly734Ser)
n.6115G>A
 COSMIC
10g.71785065G>CCA377147091CDH23c.5677G>C (p.Gly1893Arg)
c.5692G>C (p.Gly1898Arg)
c.5872G>C (p.Gly1958Arg)
c.5806G>C (p.Gly1936Arg)
c.5869G>C (p.Gly1957Arg)
c.5866G>C (p.Gly1956Arg)
c.5812G>C (p.Gly1938Arg)
c.5737G>C (p.Gly1913Arg)
c.5332G>C (p.Gly1778Arg)
c.4690G>C (p.Gly1564Arg)
c.2200G>C (p.Gly734Arg)
n.6115G>C
10g.71785065G>TCA377147092CDH23c.5677G>T (p.Gly1893Cys)
c.5692G>T (p.Gly1898Cys)
c.5872G>T (p.Gly1958Cys)
c.5806G>T (p.Gly1936Cys)
c.5869G>T (p.Gly1957Cys)
c.5866G>T (p.Gly1956Cys)
c.5812G>T (p.Gly1938Cys)
c.5737G>T (p.Gly1913Cys)
c.5332G>T (p.Gly1778Cys)
c.4690G>T (p.Gly1564Cys)
c.2200G>T (p.Gly734Cys)
n.6115G>T
10g.71785066G>ACA377147094CDH23c.5678G>A (p.Gly1893Asp)
c.5693G>A (p.Gly1898Asp)
c.5873G>A (p.Gly1958Asp)
c.5807G>A (p.Gly1936Asp)
c.5870G>A (p.Gly1957Asp)
c.5867G>A (p.Gly1956Asp)
c.5813G>A (p.Gly1938Asp)
c.5738G>A (p.Gly1913Asp)
c.5333G>A (p.Gly1778Asp)
c.4691G>A (p.Gly1564Asp)
c.2201G>A (p.Gly734Asp)
n.6116G>A
 gnomAD v4
10g.71785066G>CCA377147097CDH23c.5678G>C (p.Gly1893Ala)
c.5693G>C (p.Gly1898Ala)
c.5873G>C (p.Gly1958Ala)
c.5807G>C (p.Gly1936Ala)
c.5870G>C (p.Gly1957Ala)
c.5867G>C (p.Gly1956Ala)
c.5813G>C (p.Gly1938Ala)
c.5738G>C (p.Gly1913Ala)
c.5333G>C (p.Gly1778Ala)
c.4691G>C (p.Gly1564Ala)
c.2201G>C (p.Gly734Ala)
n.6116G>C
10g.71785066G>TCA377147101CDH23c.5678G>T (p.Gly1893Val)
c.5693G>T (p.Gly1898Val)
c.5873G>T (p.Gly1958Val)
c.5807G>T (p.Gly1936Val)
c.5870G>T (p.Gly1957Val)
c.5867G>T (p.Gly1956Val)
c.5813G>T (p.Gly1938Val)
c.5738G>T (p.Gly1913Val)
c.5333G>T (p.Gly1778Val)
c.4691G>T (p.Gly1564Val)
c.2201G>T (p.Gly734Val)
n.6116G>T
10g.71785067C>ACA470060789CDH23c.5679C>A (p.Gly1893=)
c.5694C>A (p.Gly1898=)
c.5874C>A (p.Gly1958=)
c.5808C>A (p.Gly1936=)
c.5871C>A (p.Gly1957=)
c.5868C>A (p.Gly1956=)
c.5814C>A (p.Gly1938=)
c.5739C>A (p.Gly1913=)
c.5334C>A (p.Gly1778=)
c.4692C>A (p.Gly1564=)
c.2202C>A (p.Gly734=)
n.6117C>A
10g.71785067C>GCA470060790CDH23c.5679C>G (p.Gly1893=)
c.5694C>G (p.Gly1898=)
c.5874C>G (p.Gly1958=)
c.5808C>G (p.Gly1936=)
c.5871C>G (p.Gly1957=)
c.5868C>G (p.Gly1956=)
c.5814C>G (p.Gly1938=)
c.5739C>G (p.Gly1913=)
c.5334C>G (p.Gly1778=)
c.4692C>G (p.Gly1564=)
c.2202C>G (p.Gly734=)
n.6117C>G
10g.71785067C>TCA470060791CDH23c.5679C>T (p.Gly1893=)
c.5694C>T (p.Gly1898=)
c.5874C>T (p.Gly1958=)
c.5808C>T (p.Gly1936=)
c.5871C>T (p.Gly1957=)
c.5868C>T (p.Gly1956=)
c.5814C>T (p.Gly1938=)
c.5739C>T (p.Gly1913=)
c.5334C>T (p.Gly1778=)
c.4692C>T (p.Gly1564=)
c.2202C>T (p.Gly734=)
n.6117C>T
10g.71785068A>CCA377147105CDH23c.5680A>C (p.Asn1894His)
c.5695A>C (p.Asn1899His)
c.5875A>C (p.Asn1959His)
c.5809A>C (p.Asn1937His)
c.5872A>C (p.Asn1958His)
c.5869A>C (p.Asn1957His)
c.5815A>C (p.Asn1939His)
c.5740A>C (p.Asn1914His)
c.5335A>C (p.Asn1779His)
c.4693A>C (p.Asn1565His)
c.2203A>C (p.Asn735His)
n.6118A>C
10g.71785068A>GCA377147106CDH23c.5680A>G (p.Asn1894Asp)
c.5695A>G (p.Asn1899Asp)
c.5875A>G (p.Asn1959Asp)
c.5809A>G (p.Asn1937Asp)
c.5872A>G (p.Asn1958Asp)
c.5869A>G (p.Asn1957Asp)
c.5815A>G (p.Asn1939Asp)
c.5740A>G (p.Asn1914Asp)
c.5335A>G (p.Asn1779Asp)
c.4693A>G (p.Asn1565Asp)
c.2203A>G (p.Asn735Asp)
n.6118A>G
10g.71785068A>TCA377147107CDH23c.5680A>T (p.Asn1894Tyr)
c.5695A>T (p.Asn1899Tyr)
c.5875A>T (p.Asn1959Tyr)
c.5809A>T (p.Asn1937Tyr)
c.5872A>T (p.Asn1958Tyr)
c.5869A>T (p.Asn1957Tyr)
c.5815A>T (p.Asn1939Tyr)
c.5740A>T (p.Asn1914Tyr)
c.5335A>T (p.Asn1779Tyr)
c.4693A>T (p.Asn1565Tyr)
c.2203A>T (p.Asn735Tyr)
n.6118A>T
10g.71785069A=CA1918862567CDH23c.5681A= (p.Asn1894=)
c.5696A= (p.Asn1899=)
c.5876A= (p.Asn1959=)
c.5810A= (p.Asn1937=)
c.5873A= (p.Asn1958=)
c.5870A= (p.Asn1957=)
c.5816A= (p.Asn1939=)
c.5741A= (p.Asn1914=)
c.5336A= (p.Asn1779=)
c.4694A= (p.Asn1565=)
c.2204A= (p.Asn735=)
n.6119A=
10g.71785069A>CCA5545833CDH23c.5681A>C (p.Asn1894Thr)
c.5696A>C (p.Asn1899Thr)
c.5876A>C (p.Asn1959Thr)
c.5810A>C (p.Asn1937Thr)
c.5873A>C (p.Asn1958Thr)
c.5870A>C (p.Asn1957Thr)
c.5816A>C (p.Asn1939Thr)
c.5741A>C (p.Asn1914Thr)
c.5336A>C (p.Asn1779Thr)
c.4694A>C (p.Asn1565Thr)
c.2204A>C (p.Asn735Thr)
n.6119A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785069A>GCA377147108CDH23c.5681A>G (p.Asn1894Ser)
c.5696A>G (p.Asn1899Ser)
c.5876A>G (p.Asn1959Ser)
c.5810A>G (p.Asn1937Ser)
c.5873A>G (p.Asn1958Ser)
c.5870A>G (p.Asn1957Ser)
c.5816A>G (p.Asn1939Ser)
c.5741A>G (p.Asn1914Ser)
c.5336A>G (p.Asn1779Ser)
c.4694A>G (p.Asn1565Ser)
c.2204A>G (p.Asn735Ser)
n.6119A>G
 gnomAD v4
10g.71785069A>TCA377147110CDH23c.5681A>T (p.Asn1894Ile)
c.5696A>T (p.Asn1899Ile)
c.5876A>T (p.Asn1959Ile)
c.5810A>T (p.Asn1937Ile)
c.5873A>T (p.Asn1958Ile)
c.5870A>T (p.Asn1957Ile)
c.5816A>T (p.Asn1939Ile)
c.5741A>T (p.Asn1914Ile)
c.5336A>T (p.Asn1779Ile)
c.4694A>T (p.Asn1565Ile)
c.2204A>T (p.Asn735Ile)
n.6119A>T

Number of alleles fetched