Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=

Number of alleles fetched