Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
10g.71785070C>ACA377147114CDH23c.5682C>A (p.Asn1894Lys)
c.5697C>A (p.Asn1899Lys)
c.5877C>A (p.Asn1959Lys)
c.5811C>A (p.Asn1937Lys)
c.5874C>A (p.Asn1958Lys)
c.5871C>A (p.Asn1957Lys)
c.5817C>A (p.Asn1939Lys)
c.5742C>A (p.Asn1914Lys)
c.5337C>A (p.Asn1779Lys)
c.4695C>A (p.Asn1565Lys)
c.2205C>A (p.Asn735Lys)
n.6120C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71785070C=CA1918862572CDH23c.5682C= (p.Asn1894=)
c.5697C= (p.Asn1899=)
c.5877C= (p.Asn1959=)
c.5811C= (p.Asn1937=)
c.5874C= (p.Asn1958=)
c.5871C= (p.Asn1957=)
c.5817C= (p.Asn1939=)
c.5742C= (p.Asn1914=)
c.5337C= (p.Asn1779=)
c.4695C= (p.Asn1565=)
c.2205C= (p.Asn735=)
n.6120C=
10g.71785070C>GCA377147117CDH23c.5682C>G (p.Asn1894Lys)
c.5697C>G (p.Asn1899Lys)
c.5877C>G (p.Asn1959Lys)
c.5811C>G (p.Asn1937Lys)
c.5874C>G (p.Asn1958Lys)
c.5871C>G (p.Asn1957Lys)
c.5817C>G (p.Asn1939Lys)
c.5742C>G (p.Asn1914Lys)
c.5337C>G (p.Asn1779Lys)
c.4695C>G (p.Asn1565Lys)
c.2205C>G (p.Asn735Lys)
n.6120C>G
10g.71785070C>TCA5545834CDH23c.5682C>T (p.Asn1894=)
c.5697C>T (p.Asn1899=)
c.5877C>T (p.Asn1959=)
c.5811C>T (p.Asn1937=)
c.5874C>T (p.Asn1958=)
c.5871C>T (p.Asn1957=)
c.5817C>T (p.Asn1939=)
c.5742C>T (p.Asn1914=)
c.5337C>T (p.Asn1779=)
c.4695C>T (p.Asn1565=)
c.2205C>T (p.Asn735=)
n.6120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785071C>ACA377147119CDH23c.5683C>A (p.Arg1895Ser)
c.5698C>A (p.Arg1900Ser)
c.5878C>A (p.Arg1960Ser)
c.5812C>A (p.Arg1938Ser)
c.5875C>A (p.Arg1959Ser)
c.5872C>A (p.Arg1958Ser)
c.5818C>A (p.Arg1940Ser)
c.5743C>A (p.Arg1915Ser)
c.5338C>A (p.Arg1780Ser)
c.4696C>A (p.Arg1566Ser)
c.2206C>A (p.Arg736Ser)
n.6121C>A
10g.71785071C=CA1918862577CDH23c.5683C= (p.Arg1895=)
c.5698C= (p.Arg1900=)
c.5878C= (p.Arg1960=)
c.5812C= (p.Arg1938=)
c.5875C= (p.Arg1959=)
c.5872C= (p.Arg1958=)
c.5818C= (p.Arg1940=)
c.5743C= (p.Arg1915=)
c.5338C= (p.Arg1780=)
c.4696C= (p.Arg1566=)
c.2206C= (p.Arg736=)
n.6121C=
10g.71785071C>GCA377147121CDH23c.5683C>G (p.Arg1895Gly)
c.5698C>G (p.Arg1900Gly)
c.5878C>G (p.Arg1960Gly)
c.5812C>G (p.Arg1938Gly)
c.5875C>G (p.Arg1959Gly)
c.5872C>G (p.Arg1958Gly)
c.5818C>G (p.Arg1940Gly)
c.5743C>G (p.Arg1915Gly)
c.5338C>G (p.Arg1780Gly)
c.4696C>G (p.Arg1566Gly)
c.2206C>G (p.Arg736Gly)
n.6121C>G
10g.71785071C>TCA5545835CDH23c.5683C>T (p.Arg1895Cys)
c.5698C>T (p.Arg1900Cys)
c.5878C>T (p.Arg1960Cys)
c.5812C>T (p.Arg1938Cys)
c.5875C>T (p.Arg1959Cys)
c.5872C>T (p.Arg1958Cys)
c.5818C>T (p.Arg1940Cys)
c.5743C>T (p.Arg1915Cys)
c.5338C>T (p.Arg1780Cys)
c.4696C>T (p.Arg1566Cys)
c.2206C>T (p.Arg736Cys)
n.6121C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785072G>ACA5545836CDH23c.5684G>A (p.Arg1895His)
c.5699G>A (p.Arg1900His)
c.5879G>A (p.Arg1960His)
c.5813G>A (p.Arg1938His)
c.5876G>A (p.Arg1959His)
c.5873G>A (p.Arg1958His)
c.5819G>A (p.Arg1940His)
c.5744G>A (p.Arg1915His)
c.5339G>A (p.Arg1780His)
c.4697G>A (p.Arg1566His)
c.2207G>A (p.Arg736His)
n.6122G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785072G>CCA377147127CDH23c.5684G>C (p.Arg1895Pro)
c.5699G>C (p.Arg1900Pro)
c.5879G>C (p.Arg1960Pro)
c.5813G>C (p.Arg1938Pro)
c.5876G>C (p.Arg1959Pro)
c.5873G>C (p.Arg1958Pro)
c.5819G>C (p.Arg1940Pro)
c.5744G>C (p.Arg1915Pro)
c.5339G>C (p.Arg1780Pro)
c.4697G>C (p.Arg1566Pro)
c.2207G>C (p.Arg736Pro)
n.6122G>C
 gnomAD v4
10g.71785072G=CA1918862605CDH23c.5684G= (p.Arg1895=)
c.5699G= (p.Arg1900=)
c.5879G= (p.Arg1960=)
c.5813G= (p.Arg1938=)
c.5876G= (p.Arg1959=)
c.5873G= (p.Arg1958=)
c.5819G= (p.Arg1940=)
c.5744G= (p.Arg1915=)
c.5339G= (p.Arg1780=)
c.4697G= (p.Arg1566=)
c.2207G= (p.Arg736=)
n.6122G=
10g.71785072G>TCA377147129CDH23c.5684G>T (p.Arg1895Leu)
c.5699G>T (p.Arg1900Leu)
c.5879G>T (p.Arg1960Leu)
c.5813G>T (p.Arg1938Leu)
c.5876G>T (p.Arg1959Leu)
c.5873G>T (p.Arg1958Leu)
c.5819G>T (p.Arg1940Leu)
c.5744G>T (p.Arg1915Leu)
c.5339G>T (p.Arg1780Leu)
c.4697G>T (p.Arg1566Leu)
c.2207G>T (p.Arg736Leu)
n.6122G>T
 COSMIC
10g.71785073C>ACA470060794CDH23c.5685C>A (p.Arg1895=)
c.5700C>A (p.Arg1900=)
c.5880C>A (p.Arg1960=)
c.5814C>A (p.Arg1938=)
c.5877C>A (p.Arg1959=)
c.5874C>A (p.Arg1958=)
c.5820C>A (p.Arg1940=)
c.5745C>A (p.Arg1915=)
c.5340C>A (p.Arg1780=)
c.4698C>A (p.Arg1566=)
c.2208C>A (p.Arg736=)
n.6123C>A
10g.71785073C=CA1918862612CDH23c.5685C= (p.Arg1895=)
c.5700C= (p.Arg1900=)
c.5880C= (p.Arg1960=)
c.5814C= (p.Arg1938=)
c.5877C= (p.Arg1959=)
c.5874C= (p.Arg1958=)
c.5820C= (p.Arg1940=)
c.5745C= (p.Arg1915=)
c.5340C= (p.Arg1780=)
c.4698C= (p.Arg1566=)
c.2208C= (p.Arg736=)
n.6123C=
10g.71785073C>GCA470060793CDH23c.5685C>G (p.Arg1895=)
c.5700C>G (p.Arg1900=)
c.5880C>G (p.Arg1960=)
c.5814C>G (p.Arg1938=)
c.5877C>G (p.Arg1959=)
c.5874C>G (p.Arg1958=)
c.5820C>G (p.Arg1940=)
c.5745C>G (p.Arg1915=)
c.5340C>G (p.Arg1780=)
c.4698C>G (p.Arg1566=)
c.2208C>G (p.Arg736=)
n.6123C>G
10g.71785073C>TCA209457611CDH23c.5685C>T (p.Arg1895=)
c.5700C>T (p.Arg1900=)
c.5880C>T (p.Arg1960=)
c.5814C>T (p.Arg1938=)
c.5877C>T (p.Arg1959=)
c.5874C>T (p.Arg1958=)
c.5820C>T (p.Arg1940=)
c.5745C>T (p.Arg1915=)
c.5340C>T (p.Arg1780=)
c.4698C>T (p.Arg1566=)
c.2208C>T (p.Arg736=)
n.6123C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71785074G>ACA377147137CDH23c.5686G>A (p.Glu1896Lys)
c.5701G>A (p.Glu1901Lys)
c.5881G>A (p.Glu1961Lys)
c.5815G>A (p.Glu1939Lys)
c.5878G>A (p.Glu1960Lys)
c.5875G>A (p.Glu1959Lys)
c.5821G>A (p.Glu1941Lys)
c.5746G>A (p.Glu1916Lys)
c.5341G>A (p.Glu1781Lys)
c.4699G>A (p.Glu1567Lys)
c.2209G>A (p.Glu737Lys)
n.6124G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71785074G>CCA377147140CDH23c.5686G>C (p.Glu1896Gln)
c.5701G>C (p.Glu1901Gln)
c.5881G>C (p.Glu1961Gln)
c.5815G>C (p.Glu1939Gln)
c.5878G>C (p.Glu1960Gln)
c.5875G>C (p.Glu1959Gln)
c.5821G>C (p.Glu1941Gln)
c.5746G>C (p.Glu1916Gln)
c.5341G>C (p.Glu1781Gln)
c.4699G>C (p.Glu1567Gln)
c.2209G>C (p.Glu737Gln)
n.6124G>C
 ClinVar dbSNP
10g.71785074G=CA1918862623CDH23c.5686G= (p.Glu1896=)
c.5701G= (p.Glu1901=)
c.5881G= (p.Glu1961=)
c.5815G= (p.Glu1939=)
c.5878G= (p.Glu1960=)
c.5875G= (p.Glu1959=)
c.5821G= (p.Glu1941=)
c.5746G= (p.Glu1916=)
c.5341G= (p.Glu1781=)
c.4699G= (p.Glu1567=)
c.2209G= (p.Glu737=)
n.6124G=
10g.71785074G>TCA377147143CDH23c.5686G>T (p.Glu1896Ter)
c.5701G>T (p.Glu1901Ter)
c.5881G>T (p.Glu1961Ter)
c.5815G>T (p.Glu1939Ter)
c.5878G>T (p.Glu1960Ter)
c.5875G>T (p.Glu1959Ter)
c.5821G>T (p.Glu1941Ter)
c.5746G>T (p.Glu1916Ter)
c.5341G>T (p.Glu1781Ter)
c.4699G>T (p.Glu1567Ter)
c.2209G>T (p.Glu737Ter)
n.6124G>T
10g.71785075A>CCA377147151CDH23c.5687A>C (p.Glu1896Ala)
c.5702A>C (p.Glu1901Ala)
c.5882A>C (p.Glu1961Ala)
c.5816A>C (p.Glu1939Ala)
c.5879A>C (p.Glu1960Ala)
c.5876A>C (p.Glu1959Ala)
c.5822A>C (p.Glu1941Ala)
c.5747A>C (p.Glu1916Ala)
c.5342A>C (p.Glu1781Ala)
c.4700A>C (p.Glu1567Ala)
c.2210A>C (p.Glu737Ala)
n.6125A>C
10g.71785075A>GCA377147148CDH23c.5687A>G (p.Glu1896Gly)
c.5702A>G (p.Glu1901Gly)
c.5882A>G (p.Glu1961Gly)
c.5816A>G (p.Glu1939Gly)
c.5879A>G (p.Glu1960Gly)
c.5876A>G (p.Glu1959Gly)
c.5822A>G (p.Glu1941Gly)
c.5747A>G (p.Glu1916Gly)
c.5342A>G (p.Glu1781Gly)
c.4700A>G (p.Glu1567Gly)
c.2210A>G (p.Glu737Gly)
n.6125A>G
10g.71785075A>TCA377147147CDH23c.5687A>T (p.Glu1896Val)
c.5702A>T (p.Glu1901Val)
c.5882A>T (p.Glu1961Val)
c.5816A>T (p.Glu1939Val)
c.5879A>T (p.Glu1960Val)
c.5876A>T (p.Glu1959Val)
c.5822A>T (p.Glu1941Val)
c.5747A>T (p.Glu1916Val)
c.5342A>T (p.Glu1781Val)
c.4700A>T (p.Glu1567Val)
c.2210A>T (p.Glu737Val)
n.6125A>T
10g.71785076G>ACA5545837CDH23c.5688G>A (p.Glu1896=)
c.5703G>A (p.Glu1901=)
c.5883G>A (p.Glu1961=)
c.5817G>A (p.Glu1939=)
c.5880G>A (p.Glu1960=)
c.5877G>A (p.Glu1959=)
c.5823G>A (p.Glu1941=)
c.5748G>A (p.Glu1916=)
c.5343G>A (p.Glu1781=)
c.4701G>A (p.Glu1567=)
c.2211G>A (p.Glu737=)
n.6126G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785076G>CCA377147152CDH23c.5688G>C (p.Glu1896Asp)
c.5703G>C (p.Glu1901Asp)
c.5883G>C (p.Glu1961Asp)
c.5817G>C (p.Glu1939Asp)
c.5880G>C (p.Glu1960Asp)
c.5877G>C (p.Glu1959Asp)
c.5823G>C (p.Glu1941Asp)
c.5748G>C (p.Glu1916Asp)
c.5343G>C (p.Glu1781Asp)
c.4701G>C (p.Glu1567Asp)
c.2211G>C (p.Glu737Asp)
n.6126G>C
 gnomAD v4
10g.71785076G=CA1918862627CDH23c.5688G= (p.Glu1896=)
c.5703G= (p.Glu1901=)
c.5883G= (p.Glu1961=)
c.5817G= (p.Glu1939=)
c.5880G= (p.Glu1960=)
c.5877G= (p.Glu1959=)
c.5823G= (p.Glu1941=)
c.5748G= (p.Glu1916=)
c.5343G= (p.Glu1781=)
c.4701G= (p.Glu1567=)
c.2211G= (p.Glu737=)
n.6126G=
10g.71785076G>TCA377147154CDH23c.5688G>T (p.Glu1896Asp)
c.5703G>T (p.Glu1901Asp)
c.5883G>T (p.Glu1961Asp)
c.5817G>T (p.Glu1939Asp)
c.5880G>T (p.Glu1960Asp)
c.5877G>T (p.Glu1959Asp)
c.5823G>T (p.Glu1941Asp)
c.5748G>T (p.Glu1916Asp)
c.5343G>T (p.Glu1781Asp)
c.4701G>T (p.Glu1567Asp)
c.2211G>T (p.Glu737Asp)
n.6126G>T
 dbSNP gnomAD v4
10g.71785077C>ACA470060795CDH23c.5689C>A (p.Arg1897=)
c.5704C>A (p.Arg1902=)
c.5884C>A (p.Arg1962=)
c.5818C>A (p.Arg1940=)
c.5881C>A (p.Arg1961=)
c.5878C>A (p.Arg1960=)
c.5824C>A (p.Arg1942=)
c.5749C>A (p.Arg1917=)
c.5344C>A (p.Arg1782=)
c.4702C>A (p.Arg1568=)
c.2212C>A (p.Arg738=)
n.6127C>A
 gnomAD v4
10g.71785077C=CA1918862635CDH23c.5689C= (p.Arg1897=)
c.5704C= (p.Arg1902=)
c.5884C= (p.Arg1962=)
c.5818C= (p.Arg1940=)
c.5881C= (p.Arg1961=)
c.5878C= (p.Arg1960=)
c.5824C= (p.Arg1942=)
c.5749C= (p.Arg1917=)
c.5344C= (p.Arg1782=)
c.4702C= (p.Arg1568=)
c.2212C= (p.Arg738=)
n.6127C=
10g.71785077C>GCA377147156CDH23c.5689C>G (p.Arg1897Gly)
c.5704C>G (p.Arg1902Gly)
c.5884C>G (p.Arg1962Gly)
c.5818C>G (p.Arg1940Gly)
c.5881C>G (p.Arg1961Gly)
c.5878C>G (p.Arg1960Gly)
c.5824C>G (p.Arg1942Gly)
c.5749C>G (p.Arg1917Gly)
c.5344C>G (p.Arg1782Gly)
c.4702C>G (p.Arg1568Gly)
c.2212C>G (p.Arg738Gly)
n.6127C>G
10g.71785077C>TCA5545838CDH23c.5689C>T (p.Arg1897Trp)
c.5704C>T (p.Arg1902Trp)
c.5884C>T (p.Arg1962Trp)
c.5818C>T (p.Arg1940Trp)
c.5881C>T (p.Arg1961Trp)
c.5878C>T (p.Arg1960Trp)
c.5824C>T (p.Arg1942Trp)
c.5749C>T (p.Arg1917Trp)
c.5344C>T (p.Arg1782Trp)
c.4702C>T (p.Arg1568Trp)
c.2212C>T (p.Arg738Trp)
n.6127C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785078G>ACA5545839CDH23c.5690G>A (p.Arg1897Gln)
c.5705G>A (p.Arg1902Gln)
c.5885G>A (p.Arg1962Gln)
c.5819G>A (p.Arg1940Gln)
c.5882G>A (p.Arg1961Gln)
c.5879G>A (p.Arg1960Gln)
c.5825G>A (p.Arg1942Gln)
c.5750G>A (p.Arg1917Gln)
c.5345G>A (p.Arg1782Gln)
c.4703G>A (p.Arg1568Gln)
c.2213G>A (p.Arg738Gln)
n.6128G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785078G>CCA377147163CDH23c.5690G>C (p.Arg1897Pro)
c.5705G>C (p.Arg1902Pro)
c.5885G>C (p.Arg1962Pro)
c.5819G>C (p.Arg1940Pro)
c.5882G>C (p.Arg1961Pro)
c.5879G>C (p.Arg1960Pro)
c.5825G>C (p.Arg1942Pro)
c.5750G>C (p.Arg1917Pro)
c.5345G>C (p.Arg1782Pro)
c.4703G>C (p.Arg1568Pro)
c.2213G>C (p.Arg738Pro)
n.6128G>C
 dbSNP gnomAD v2 gnomAD v4
10g.71785078G=CA1918862646CDH23c.5690G= (p.Arg1897=)
c.5705G= (p.Arg1902=)
c.5885G= (p.Arg1962=)
c.5819G= (p.Arg1940=)
c.5882G= (p.Arg1961=)
c.5879G= (p.Arg1960=)
c.5825G= (p.Arg1942=)
c.5750G= (p.Arg1917=)
c.5345G= (p.Arg1782=)
c.4703G= (p.Arg1568=)
c.2213G= (p.Arg738=)
n.6128G=
10g.71785078G>TCA377147159CDH23c.5690G>T (p.Arg1897Leu)
c.5705G>T (p.Arg1902Leu)
c.5885G>T (p.Arg1962Leu)
c.5819G>T (p.Arg1940Leu)
c.5882G>T (p.Arg1961Leu)
c.5879G>T (p.Arg1960Leu)
c.5825G>T (p.Arg1942Leu)
c.5750G>T (p.Arg1917Leu)
c.5345G>T (p.Arg1782Leu)
c.4703G>T (p.Arg1568Leu)
c.2213G>T (p.Arg738Leu)
n.6128G>T
 dbSNP gnomAD v3 gnomAD v4
10g.71785079G>ACA470060796CDH23c.5691G>A (p.Arg1897=)
c.5706G>A (p.Arg1902=)
c.5886G>A (p.Arg1962=)
c.5820G>A (p.Arg1940=)
c.5883G>A (p.Arg1961=)
c.5880G>A (p.Arg1960=)
c.5826G>A (p.Arg1942=)
c.5751G>A (p.Arg1917=)
c.5346G>A (p.Arg1782=)
c.4704G>A (p.Arg1568=)
c.2214G>A (p.Arg738=)
n.6129G>A
 gnomAD v4
10g.71785079G>CCA470060797CDH23c.5691G>C (p.Arg1897=)
c.5706G>C (p.Arg1902=)
c.5886G>C (p.Arg1962=)
c.5820G>C (p.Arg1940=)
c.5883G>C (p.Arg1961=)
c.5880G>C (p.Arg1960=)
c.5826G>C (p.Arg1942=)
c.5751G>C (p.Arg1917=)
c.5346G>C (p.Arg1782=)
c.4704G>C (p.Arg1568=)
c.2214G>C (p.Arg738=)
n.6129G>C
10g.71785079G>TCA470060798CDH23c.5691G>T (p.Arg1897=)
c.5706G>T (p.Arg1902=)
c.5886G>T (p.Arg1962=)
c.5820G>T (p.Arg1940=)
c.5883G>T (p.Arg1961=)
c.5880G>T (p.Arg1960=)
c.5826G>T (p.Arg1942=)
c.5751G>T (p.Arg1917=)
c.5346G>T (p.Arg1782=)
c.4704G>T (p.Arg1568=)
c.2214G>T (p.Arg738=)
n.6129G>T
10g.71785079_71785080insACACA2788480864CDH23c.5691_5692insACA (p.Arg1897_Ala1898insThr)
c.5706_5707insACA (p.Arg1902_Ala1903insThr)
c.5886_5887insACA (p.Arg1962_Ala1963insThr)
c.5820_5821insACA (p.Arg1940_Ala1941insThr)
c.5883_5884insACA (p.Arg1961_Ala1962insThr)
c.5880_5881insACA (p.Arg1960_Ala1961insThr)
c.5826_5827insACA (p.Arg1942_Ala1943insThr)
c.5751_5752insACA (p.Arg1917_Ala1918insThr)
c.5346_5347insACA (p.Arg1782_Ala1783insThr)
c.4704_4705insACA (p.Arg1568_Ala1569insThr)
c.2214_2215insACA (p.Arg738_Ala739insThr)
n.6129_6130insACA
10g.71785080G>ACA5545840CDH23c.5692G>A (p.Ala1898Thr)
c.5707G>A (p.Ala1903Thr)
c.5887G>A (p.Ala1963Thr)
c.5821G>A (p.Ala1941Thr)
c.5884G>A (p.Ala1962Thr)
c.5881G>A (p.Ala1961Thr)
c.5827G>A (p.Ala1943Thr)
c.5752G>A (p.Ala1918Thr)
c.5347G>A (p.Ala1783Thr)
c.4705G>A (p.Ala1569Thr)
c.2215G>A (p.Ala739Thr)
n.6130G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785080G>CCA377147174CDH23c.5692G>C (p.Ala1898Pro)
c.5707G>C (p.Ala1903Pro)
c.5887G>C (p.Ala1963Pro)
c.5821G>C (p.Ala1941Pro)
c.5884G>C (p.Ala1962Pro)
c.5881G>C (p.Ala1961Pro)
c.5827G>C (p.Ala1943Pro)
c.5752G>C (p.Ala1918Pro)
c.5347G>C (p.Ala1783Pro)
c.4705G>C (p.Ala1569Pro)
c.2215G>C (p.Ala739Pro)
n.6130G>C
10g.71785080G=CA1918862653CDH23c.5692G= (p.Ala1898=)
c.5707G= (p.Ala1903=)
c.5887G= (p.Ala1963=)
c.5821G= (p.Ala1941=)
c.5884G= (p.Ala1962=)
c.5881G= (p.Ala1961=)
c.5827G= (p.Ala1943=)
c.5752G= (p.Ala1918=)
c.5347G= (p.Ala1783=)
c.4705G= (p.Ala1569=)
c.2215G= (p.Ala739=)
n.6130G=
10g.71785080G>TCA377147177CDH23c.5692G>T (p.Ala1898Ser)
c.5707G>T (p.Ala1903Ser)
c.5887G>T (p.Ala1963Ser)
c.5821G>T (p.Ala1941Ser)
c.5884G>T (p.Ala1962Ser)
c.5881G>T (p.Ala1961Ser)
c.5827G>T (p.Ala1943Ser)
c.5752G>T (p.Ala1918Ser)
c.5347G>T (p.Ala1783Ser)
c.4705G>T (p.Ala1569Ser)
c.2215G>T (p.Ala739Ser)
n.6130G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71785081C>ACA377147187CDH23c.5693C>A (p.Ala1898Asp)
c.5708C>A (p.Ala1903Asp)
c.5888C>A (p.Ala1963Asp)
c.5822C>A (p.Ala1941Asp)
c.5885C>A (p.Ala1962Asp)
c.5882C>A (p.Ala1961Asp)
c.5828C>A (p.Ala1943Asp)
c.5753C>A (p.Ala1918Asp)
c.5348C>A (p.Ala1783Asp)
c.4706C>A (p.Ala1569Asp)
c.2216C>A (p.Ala739Asp)
n.6131C>A
 dbSNP
10g.71785081C=CA1918862665CDH23c.5693C= (p.Ala1898=)
c.5708C= (p.Ala1903=)
c.5888C= (p.Ala1963=)
c.5822C= (p.Ala1941=)
c.5885C= (p.Ala1962=)
c.5882C= (p.Ala1961=)
c.5828C= (p.Ala1943=)
c.5753C= (p.Ala1918=)
c.5348C= (p.Ala1783=)
c.4706C= (p.Ala1569=)
c.2216C= (p.Ala739=)
n.6131C=
10g.71785081C>GCA377147190CDH23c.5693C>G (p.Ala1898Gly)
c.5708C>G (p.Ala1903Gly)
c.5888C>G (p.Ala1963Gly)
c.5822C>G (p.Ala1941Gly)
c.5885C>G (p.Ala1962Gly)
c.5882C>G (p.Ala1961Gly)
c.5828C>G (p.Ala1943Gly)
c.5753C>G (p.Ala1918Gly)
c.5348C>G (p.Ala1783Gly)
c.4706C>G (p.Ala1569Gly)
c.2216C>G (p.Ala739Gly)
n.6131C>G
10g.71785081C>TCA377147193CDH23c.5693C>T (p.Ala1898Val)
c.5708C>T (p.Ala1903Val)
c.5888C>T (p.Ala1963Val)
c.5822C>T (p.Ala1941Val)
c.5885C>T (p.Ala1962Val)
c.5882C>T (p.Ala1961Val)
c.5828C>T (p.Ala1943Val)
c.5753C>T (p.Ala1918Val)
c.5348C>T (p.Ala1783Val)
c.4706C>T (p.Ala1569Val)
c.2216C>T (p.Ala739Val)
n.6131C>T
 COSMIC
10g.71785082C>ACA470060800CDH23c.5694C>A (p.Ala1898=)
c.5709C>A (p.Ala1903=)
c.5889C>A (p.Ala1963=)
c.5823C>A (p.Ala1941=)
c.5886C>A (p.Ala1962=)
c.5883C>A (p.Ala1961=)
c.5829C>A (p.Ala1943=)
c.5754C>A (p.Ala1918=)
c.5349C>A (p.Ala1783=)
c.4707C>A (p.Ala1569=)
c.2217C>A (p.Ala739=)
n.6132C>A
 dbSNP
10g.71785082C=CA1918862671CDH23c.5694C= (p.Ala1898=)
c.5709C= (p.Ala1903=)
c.5889C= (p.Ala1963=)
c.5823C= (p.Ala1941=)
c.5886C= (p.Ala1962=)
c.5883C= (p.Ala1961=)
c.5829C= (p.Ala1943=)
c.5754C= (p.Ala1918=)
c.5349C= (p.Ala1783=)
c.4707C= (p.Ala1569=)
c.2217C= (p.Ala739=)
n.6132C=
10g.71785082C>GCA470060801CDH23c.5694C>G (p.Ala1898=)
c.5709C>G (p.Ala1903=)
c.5889C>G (p.Ala1963=)
c.5823C>G (p.Ala1941=)
c.5886C>G (p.Ala1962=)
c.5883C>G (p.Ala1961=)
c.5829C>G (p.Ala1943=)
c.5754C>G (p.Ala1918=)
c.5349C>G (p.Ala1783=)
c.4707C>G (p.Ala1569=)
c.2217C>G (p.Ala739=)
n.6132C>G
10g.71785082C>TCA470060802CDH23c.5694C>T (p.Ala1898=)
c.5709C>T (p.Ala1903=)
c.5889C>T (p.Ala1963=)
c.5823C>T (p.Ala1941=)
c.5886C>T (p.Ala1962=)
c.5883C>T (p.Ala1961=)
c.5829C>T (p.Ala1943=)
c.5754C>T (p.Ala1918=)
c.5349C>T (p.Ala1783=)
c.4707C>T (p.Ala1569=)
c.2217C>T (p.Ala739=)
n.6132C>T
10g.71785082_71785083insACACA2788480870CDH23c.5694_5695insACA (p.Ala1898_Phe1899insThr)
c.5709_5710insACA (p.Ala1903_Phe1904insThr)
c.5889_5890insACA (p.Ala1963_Phe1964insThr)
c.5823_5824insACA (p.Ala1941_Phe1942insThr)
c.5886_5887insACA (p.Ala1962_Phe1963insThr)
c.5883_5884insACA (p.Ala1961_Phe1962insThr)
c.5829_5830insACA (p.Ala1943_Phe1944insThr)
c.5754_5755insACA (p.Ala1918_Phe1919insThr)
c.5349_5350insACA (p.Ala1783_Phe1784insThr)
c.4707_4708insACA (p.Ala1569_Phe1570insThr)
c.2217_2218insACA (p.Ala739_Phe740insThr)
n.6132_6133insACA
10g.71785083T>ACA377147195CDH23c.5695T>A (p.Phe1899Ile)
c.5710T>A (p.Phe1904Ile)
c.5890T>A (p.Phe1964Ile)
c.5824T>A (p.Phe1942Ile)
c.5887T>A (p.Phe1963Ile)
c.5884T>A (p.Phe1962Ile)
c.5830T>A (p.Phe1944Ile)
c.5755T>A (p.Phe1919Ile)
c.5350T>A (p.Phe1784Ile)
c.4708T>A (p.Phe1570Ile)
c.2218T>A (p.Phe740Ile)
n.6133T>A
10g.71785083T>CCA377147205CDH23c.5695T>C (p.Phe1899Leu)
c.5710T>C (p.Phe1904Leu)
c.5890T>C (p.Phe1964Leu)
c.5824T>C (p.Phe1942Leu)
c.5887T>C (p.Phe1963Leu)
c.5884T>C (p.Phe1962Leu)
c.5830T>C (p.Phe1944Leu)
c.5755T>C (p.Phe1919Leu)
c.5350T>C (p.Phe1784Leu)
c.4708T>C (p.Phe1570Leu)
c.2218T>C (p.Phe740Leu)
n.6133T>C
10g.71785083T>GCA377147199CDH23c.5695T>G (p.Phe1899Val)
c.5710T>G (p.Phe1904Val)
c.5890T>G (p.Phe1964Val)
c.5824T>G (p.Phe1942Val)
c.5887T>G (p.Phe1963Val)
c.5884T>G (p.Phe1962Val)
c.5830T>G (p.Phe1944Val)
c.5755T>G (p.Phe1919Val)
c.5350T>G (p.Phe1784Val)
c.4708T>G (p.Phe1570Val)
c.2218T>G (p.Phe740Val)
n.6133T>G
10g.71785084T>ACA377147208CDH23c.5696T>A (p.Phe1899Tyr)
c.5711T>A (p.Phe1904Tyr)
c.5891T>A (p.Phe1964Tyr)
c.5825T>A (p.Phe1942Tyr)
c.5888T>A (p.Phe1963Tyr)
c.5885T>A (p.Phe1962Tyr)
c.5831T>A (p.Phe1944Tyr)
c.5756T>A (p.Phe1919Tyr)
c.5351T>A (p.Phe1784Tyr)
c.4709T>A (p.Phe1570Tyr)
c.2219T>A (p.Phe740Tyr)
n.6134T>A
10g.71785084T>CCA377147211CDH23c.5696T>C (p.Phe1899Ser)
c.5711T>C (p.Phe1904Ser)
c.5891T>C (p.Phe1964Ser)
c.5825T>C (p.Phe1942Ser)
c.5888T>C (p.Phe1963Ser)
c.5885T>C (p.Phe1962Ser)
c.5831T>C (p.Phe1944Ser)
c.5756T>C (p.Phe1919Ser)
c.5351T>C (p.Phe1784Ser)
c.4709T>C (p.Phe1570Ser)
c.2219T>C (p.Phe740Ser)
n.6134T>C
10g.71785084T>GCA377147214CDH23c.5696T>G (p.Phe1899Cys)
c.5711T>G (p.Phe1904Cys)
c.5891T>G (p.Phe1964Cys)
c.5825T>G (p.Phe1942Cys)
c.5888T>G (p.Phe1963Cys)
c.5885T>G (p.Phe1962Cys)
c.5831T>G (p.Phe1944Cys)
c.5756T>G (p.Phe1919Cys)
c.5351T>G (p.Phe1784Cys)
c.4709T>G (p.Phe1570Cys)
c.2219T>G (p.Phe740Cys)
n.6134T>G
 gnomAD v4
10g.71785085C>ACA377147215CDH23c.5697C>A (p.Phe1899Leu)
c.5712C>A (p.Phe1904Leu)
c.5892C>A (p.Phe1964Leu)
c.5826C>A (p.Phe1942Leu)
c.5889C>A (p.Phe1963Leu)
c.5886C>A (p.Phe1962Leu)
c.5832C>A (p.Phe1944Leu)
c.5757C>A (p.Phe1919Leu)
c.5352C>A (p.Phe1784Leu)
c.4710C>A (p.Phe1570Leu)
c.2220C>A (p.Phe740Leu)
n.6135C>A
10g.71785085C>GCA377147216CDH23c.5697C>G (p.Phe1899Leu)
c.5712C>G (p.Phe1904Leu)
c.5892C>G (p.Phe1964Leu)
c.5826C>G (p.Phe1942Leu)
c.5889C>G (p.Phe1963Leu)
c.5886C>G (p.Phe1962Leu)
c.5832C>G (p.Phe1944Leu)
c.5757C>G (p.Phe1919Leu)
c.5352C>G (p.Phe1784Leu)
c.4710C>G (p.Phe1570Leu)
c.2220C>G (p.Phe740Leu)
n.6135C>G
10g.71785085C>TCA470060804CDH23c.5697C>T (p.Phe1899=)
c.5712C>T (p.Phe1904=)
c.5892C>T (p.Phe1964=)
c.5826C>T (p.Phe1942=)
c.5889C>T (p.Phe1963=)
c.5886C>T (p.Phe1962=)
c.5832C>T (p.Phe1944=)
c.5757C>T (p.Phe1919=)
c.5352C>T (p.Phe1784=)
c.4710C>T (p.Phe1570=)
c.2220C>T (p.Phe740=)
n.6135C>T
10g.71785086T>ACA377147225CDH23c.5698T>A (p.Phe1900Ile)
c.5713T>A (p.Phe1905Ile)
c.5893T>A (p.Phe1965Ile)
c.5827T>A (p.Phe1943Ile)
c.5890T>A (p.Phe1964Ile)
c.5887T>A (p.Phe1963Ile)
c.5833T>A (p.Phe1945Ile)
c.5758T>A (p.Phe1920Ile)
c.5353T>A (p.Phe1785Ile)
c.4711T>A (p.Phe1571Ile)
c.2221T>A (p.Phe741Ile)
n.6136T>A
10g.71785086T>CCA377147226CDH23c.5698T>C (p.Phe1900Leu)
c.5713T>C (p.Phe1905Leu)
c.5893T>C (p.Phe1965Leu)
c.5827T>C (p.Phe1943Leu)
c.5890T>C (p.Phe1964Leu)
c.5887T>C (p.Phe1963Leu)
c.5833T>C (p.Phe1945Leu)
c.5758T>C (p.Phe1920Leu)
c.5353T>C (p.Phe1785Leu)
c.4711T>C (p.Phe1571Leu)
c.2221T>C (p.Phe741Leu)
n.6136T>C
 dbSNP
10g.71785086T>GCA377147228CDH23c.5698T>G (p.Phe1900Val)
c.5713T>G (p.Phe1905Val)
c.5893T>G (p.Phe1965Val)
c.5827T>G (p.Phe1943Val)
c.5890T>G (p.Phe1964Val)
c.5887T>G (p.Phe1963Val)
c.5833T>G (p.Phe1945Val)
c.5758T>G (p.Phe1920Val)
c.5353T>G (p.Phe1785Val)
c.4711T>G (p.Phe1571Val)
c.2221T>G (p.Phe741Val)
n.6136T>G
10g.71785086T=CA1918862675CDH23c.5698T= (p.Phe1900=)
c.5713T= (p.Phe1905=)
c.5893T= (p.Phe1965=)
c.5827T= (p.Phe1943=)
c.5890T= (p.Phe1964=)
c.5887T= (p.Phe1963=)
c.5833T= (p.Phe1945=)
c.5758T= (p.Phe1920=)
c.5353T= (p.Phe1785=)
c.4711T= (p.Phe1571=)
c.2221T= (p.Phe741=)
n.6136T=
10g.71785087T>ACA377147234CDH23c.5699T>A (p.Phe1900Tyr)
c.5714T>A (p.Phe1905Tyr)
c.5894T>A (p.Phe1965Tyr)
c.5828T>A (p.Phe1943Tyr)
c.5891T>A (p.Phe1964Tyr)
c.5888T>A (p.Phe1963Tyr)
c.5834T>A (p.Phe1945Tyr)
c.5759T>A (p.Phe1920Tyr)
c.5354T>A (p.Phe1785Tyr)
c.4712T>A (p.Phe1571Tyr)
c.2222T>A (p.Phe741Tyr)
n.6137T>A
10g.71785087T>CCA377147244CDH23c.5699T>C (p.Phe1900Ser)
c.5714T>C (p.Phe1905Ser)
c.5894T>C (p.Phe1965Ser)
c.5828T>C (p.Phe1943Ser)
c.5891T>C (p.Phe1964Ser)
c.5888T>C (p.Phe1963Ser)
c.5834T>C (p.Phe1945Ser)
c.5759T>C (p.Phe1920Ser)
c.5354T>C (p.Phe1785Ser)
c.4712T>C (p.Phe1571Ser)
c.2222T>C (p.Phe741Ser)
n.6137T>C
10g.71785087T>GCA377147260CDH23c.5699T>G (p.Phe1900Cys)
c.5714T>G (p.Phe1905Cys)
c.5894T>G (p.Phe1965Cys)
c.5828T>G (p.Phe1943Cys)
c.5891T>G (p.Phe1964Cys)
c.5888T>G (p.Phe1963Cys)
c.5834T>G (p.Phe1945Cys)
c.5759T>G (p.Phe1920Cys)
c.5354T>G (p.Phe1785Cys)
c.4712T>G (p.Phe1571Cys)
c.2222T>G (p.Phe741Cys)
n.6137T>G
 gnomAD v4
10g.71785088C>ACA377147264CDH23c.5700C>A (p.Phe1900Leu)
c.5715C>A (p.Phe1905Leu)
c.5895C>A (p.Phe1965Leu)
c.5829C>A (p.Phe1943Leu)
c.5892C>A (p.Phe1964Leu)
c.5889C>A (p.Phe1963Leu)
c.5835C>A (p.Phe1945Leu)
c.5760C>A (p.Phe1920Leu)
c.5355C>A (p.Phe1785Leu)
c.4713C>A (p.Phe1571Leu)
c.2223C>A (p.Phe741Leu)
n.6138C>A
10g.71785088C=CA1918862679CDH23c.5700C= (p.Phe1900=)
c.5715C= (p.Phe1905=)
c.5895C= (p.Phe1965=)
c.5829C= (p.Phe1943=)
c.5892C= (p.Phe1964=)
c.5889C= (p.Phe1963=)
c.5835C= (p.Phe1945=)
c.5760C= (p.Phe1920=)
c.5355C= (p.Phe1785=)
c.4713C= (p.Phe1571=)
c.2223C= (p.Phe741=)
n.6138C=
10g.71785088C>GCA377147263CDH23c.5700C>G (p.Phe1900Leu)
c.5715C>G (p.Phe1905Leu)
c.5895C>G (p.Phe1965Leu)
c.5829C>G (p.Phe1943Leu)
c.5892C>G (p.Phe1964Leu)
c.5889C>G (p.Phe1963Leu)
c.5835C>G (p.Phe1945Leu)
c.5760C>G (p.Phe1920Leu)
c.5355C>G (p.Phe1785Leu)
c.4713C>G (p.Phe1571Leu)
c.2223C>G (p.Phe741Leu)
n.6138C>G
10g.71785088C>TCA470060806CDH23c.5700C>T (p.Phe1900=)
c.5715C>T (p.Phe1905=)
c.5895C>T (p.Phe1965=)
c.5829C>T (p.Phe1943=)
c.5892C>T (p.Phe1964=)
c.5889C>T (p.Phe1963=)
c.5835C>T (p.Phe1945=)
c.5760C>T (p.Phe1920=)
c.5355C>T (p.Phe1785=)
c.4713C>T (p.Phe1571=)
c.2223C>T (p.Phe741=)
n.6138C>T
 ClinVar dbSNP gnomAD v4 COSMIC
10g.71785089A=CA1918862683CDH23c.5701A= (p.Ile1901=)
c.5716A= (p.Ile1906=)
c.5896A= (p.Ile1966=)
c.5830A= (p.Ile1944=)
c.5893A= (p.Ile1965=)
c.5890A= (p.Ile1964=)
c.5836A= (p.Ile1946=)
c.5761A= (p.Ile1921=)
c.5356A= (p.Ile1786=)
c.4714A= (p.Ile1572=)
c.2224A= (p.Ile742=)
n.6139A=
10g.71785089A>CCA5545841CDH23c.5701A>C (p.Ile1901Leu)
c.5716A>C (p.Ile1906Leu)
c.5896A>C (p.Ile1966Leu)
c.5830A>C (p.Ile1944Leu)
c.5893A>C (p.Ile1965Leu)
c.5890A>C (p.Ile1964Leu)
c.5836A>C (p.Ile1946Leu)
c.5761A>C (p.Ile1921Leu)
c.5356A>C (p.Ile1786Leu)
c.4714A>C (p.Ile1572Leu)
c.2224A>C (p.Ile742Leu)
n.6139A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785089A>GCA377147275CDH23c.5701A>G (p.Ile1901Val)
c.5716A>G (p.Ile1906Val)
c.5896A>G (p.Ile1966Val)
c.5830A>G (p.Ile1944Val)
c.5893A>G (p.Ile1965Val)
c.5890A>G (p.Ile1964Val)
c.5836A>G (p.Ile1946Val)
c.5761A>G (p.Ile1921Val)
c.5356A>G (p.Ile1786Val)
c.4714A>G (p.Ile1572Val)
c.2224A>G (p.Ile742Val)
n.6139A>G
 dbSNP
10g.71785089A>TCA377147277CDH23c.5701A>T (p.Ile1901Phe)
c.5716A>T (p.Ile1906Phe)
c.5896A>T (p.Ile1966Phe)
c.5830A>T (p.Ile1944Phe)
c.5893A>T (p.Ile1965Phe)
c.5890A>T (p.Ile1964Phe)
c.5836A>T (p.Ile1946Phe)
c.5761A>T (p.Ile1921Phe)
c.5356A>T (p.Ile1786Phe)
c.4714A>T (p.Ile1572Phe)
c.2224A>T (p.Ile742Phe)
n.6139A>T
 gnomAD v4
10g.71785090T>ACA377147279CDH23c.5702T>A (p.Ile1901Asn)
c.5717T>A (p.Ile1906Asn)
c.5897T>A (p.Ile1966Asn)
c.5831T>A (p.Ile1944Asn)
c.5894T>A (p.Ile1965Asn)
c.5891T>A (p.Ile1964Asn)
c.5837T>A (p.Ile1946Asn)
c.5762T>A (p.Ile1921Asn)
c.5357T>A (p.Ile1786Asn)
c.4715T>A (p.Ile1572Asn)
c.2225T>A (p.Ile742Asn)
n.6140T>A
10g.71785090T>CCA377147282CDH23c.5702T>C (p.Ile1901Thr)
c.5717T>C (p.Ile1906Thr)
c.5897T>C (p.Ile1966Thr)
c.5831T>C (p.Ile1944Thr)
c.5894T>C (p.Ile1965Thr)
c.5891T>C (p.Ile1964Thr)
c.5837T>C (p.Ile1946Thr)
c.5762T>C (p.Ile1921Thr)
c.5357T>C (p.Ile1786Thr)
c.4715T>C (p.Ile1572Thr)
c.2225T>C (p.Ile742Thr)
n.6140T>C
10g.71785090T>GCA377147283CDH23c.5702T>G (p.Ile1901Ser)
c.5717T>G (p.Ile1906Ser)
c.5897T>G (p.Ile1966Ser)
c.5831T>G (p.Ile1944Ser)
c.5894T>G (p.Ile1965Ser)
c.5891T>G (p.Ile1964Ser)
c.5837T>G (p.Ile1946Ser)
c.5762T>G (p.Ile1921Ser)
c.5357T>G (p.Ile1786Ser)
c.4715T>G (p.Ile1572Ser)
c.2225T>G (p.Ile742Ser)
n.6140T>G
10g.71785091C>ACA470060808CDH23c.5703C>A (p.Ile1901=)
c.5718C>A (p.Ile1906=)
c.5898C>A (p.Ile1966=)
c.5832C>A (p.Ile1944=)
c.5895C>A (p.Ile1965=)
c.5892C>A (p.Ile1964=)
c.5838C>A (p.Ile1946=)
c.5763C>A (p.Ile1921=)
c.5358C>A (p.Ile1786=)
c.4716C>A (p.Ile1572=)
c.2226C>A (p.Ile742=)
n.6141C>A
10g.71785091C>GCA377147284CDH23c.5703C>G (p.Ile1901Met)
c.5718C>G (p.Ile1906Met)
c.5898C>G (p.Ile1966Met)
c.5832C>G (p.Ile1944Met)
c.5895C>G (p.Ile1965Met)
c.5892C>G (p.Ile1964Met)
c.5838C>G (p.Ile1946Met)
c.5763C>G (p.Ile1921Met)
c.5358C>G (p.Ile1786Met)
c.4716C>G (p.Ile1572Met)
c.2226C>G (p.Ile742Met)
n.6141C>G
10g.71785091C>TCA470060807CDH23c.5703C>T (p.Ile1901=)
c.5718C>T (p.Ile1906=)
c.5898C>T (p.Ile1966=)
c.5832C>T (p.Ile1944=)
c.5895C>T (p.Ile1965=)
c.5892C>T (p.Ile1964=)
c.5838C>T (p.Ile1946=)
c.5763C>T (p.Ile1921=)
c.5358C>T (p.Ile1786=)
c.4716C>T (p.Ile1572=)
c.2226C>T (p.Ile742=)
n.6141C>T
10g.71785092A=CA1918862684CDH23c.5704A= (p.Asn1902=)
c.5719A= (p.Asn1907=)
c.5899A= (p.Asn1967=)
c.5833A= (p.Asn1945=)
c.5896A= (p.Asn1966=)
c.5893A= (p.Asn1965=)
c.5839A= (p.Asn1947=)
c.5764A= (p.Asn1922=)
c.5359A= (p.Asn1787=)
c.4717A= (p.Asn1573=)
c.2227A= (p.Asn743=)
n.6142A=
10g.71785092A>CCA377147285CDH23c.5704A>C (p.Asn1902His)
c.5719A>C (p.Asn1907His)
c.5899A>C (p.Asn1967His)
c.5833A>C (p.Asn1945His)
c.5896A>C (p.Asn1966His)
c.5893A>C (p.Asn1965His)
c.5839A>C (p.Asn1947His)
c.5764A>C (p.Asn1922His)
c.5359A>C (p.Asn1787His)
c.4717A>C (p.Asn1573His)
c.2227A>C (p.Asn743His)
n.6142A>C
10g.71785092A>GCA377147289CDH23c.5704A>G (p.Asn1902Asp)
c.5719A>G (p.Asn1907Asp)
c.5899A>G (p.Asn1967Asp)
c.5833A>G (p.Asn1945Asp)
c.5896A>G (p.Asn1966Asp)
c.5893A>G (p.Asn1965Asp)
c.5839A>G (p.Asn1947Asp)
c.5764A>G (p.Asn1922Asp)
c.5359A>G (p.Asn1787Asp)
c.4717A>G (p.Asn1573Asp)
c.2227A>G (p.Asn743Asp)
n.6142A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71785092A>TCA377147302CDH23c.5704A>T (p.Asn1902Tyr)
c.5719A>T (p.Asn1907Tyr)
c.5899A>T (p.Asn1967Tyr)
c.5833A>T (p.Asn1945Tyr)
c.5896A>T (p.Asn1966Tyr)
c.5893A>T (p.Asn1965Tyr)
c.5839A>T (p.Asn1947Tyr)
c.5764A>T (p.Asn1922Tyr)
c.5359A>T (p.Asn1787Tyr)
c.4717A>T (p.Asn1573Tyr)
c.2227A>T (p.Asn743Tyr)
n.6142A>T
10g.71785093A>CCA377147306CDH23c.5705A>C (p.Asn1902Thr)
c.5720A>C (p.Asn1907Thr)
c.5900A>C (p.Asn1967Thr)
c.5834A>C (p.Asn1945Thr)
c.5897A>C (p.Asn1966Thr)
c.5894A>C (p.Asn1965Thr)
c.5840A>C (p.Asn1947Thr)
c.5765A>C (p.Asn1922Thr)
c.5360A>C (p.Asn1787Thr)
c.4718A>C (p.Asn1573Thr)
c.2228A>C (p.Asn743Thr)
n.6143A>C
10g.71785093A>GCA377147307CDH23c.5705A>G (p.Asn1902Ser)
c.5720A>G (p.Asn1907Ser)
c.5900A>G (p.Asn1967Ser)
c.5834A>G (p.Asn1945Ser)
c.5897A>G (p.Asn1966Ser)
c.5894A>G (p.Asn1965Ser)
c.5840A>G (p.Asn1947Ser)
c.5765A>G (p.Asn1922Ser)
c.5360A>G (p.Asn1787Ser)
c.4718A>G (p.Asn1573Ser)
c.2228A>G (p.Asn743Ser)
n.6143A>G
 gnomAD v4
10g.71785093A>TCA377147311CDH23c.5705A>T (p.Asn1902Ile)
c.5720A>T (p.Asn1907Ile)
c.5900A>T (p.Asn1967Ile)
c.5834A>T (p.Asn1945Ile)
c.5897A>T (p.Asn1966Ile)
c.5894A>T (p.Asn1965Ile)
c.5840A>T (p.Asn1947Ile)
c.5765A>T (p.Asn1922Ile)
c.5360A>T (p.Asn1787Ile)
c.4718A>T (p.Asn1573Ile)
c.2228A>T (p.Asn743Ile)
n.6143A>T
10g.71785094T>ACA377147317CDH23c.5706T>A (p.Asn1902Lys)
c.5721T>A (p.Asn1907Lys)
c.5901T>A (p.Asn1967Lys)
c.5835T>A (p.Asn1945Lys)
c.5898T>A (p.Asn1966Lys)
c.5895T>A (p.Asn1965Lys)
c.5841T>A (p.Asn1947Lys)
c.5766T>A (p.Asn1922Lys)
c.5361T>A (p.Asn1787Lys)
c.4719T>A (p.Asn1573Lys)
c.2229T>A (p.Asn743Lys)
n.6144T>A
10g.71785094T>CCA5545842CDH23c.5706T>C (p.Asn1902=)
c.5721T>C (p.Asn1907=)
c.5901T>C (p.Asn1967=)
c.5835T>C (p.Asn1945=)
c.5898T>C (p.Asn1966=)
c.5895T>C (p.Asn1965=)
c.5841T>C (p.Asn1947=)
c.5766T>C (p.Asn1922=)
c.5361T>C (p.Asn1787=)
c.4719T>C (p.Asn1573=)
c.2229T>C (p.Asn743=)
n.6144T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785094T>GCA377147316CDH23c.5706T>G (p.Asn1902Lys)
c.5721T>G (p.Asn1907Lys)
c.5901T>G (p.Asn1967Lys)
c.5835T>G (p.Asn1945Lys)
c.5898T>G (p.Asn1966Lys)
c.5895T>G (p.Asn1965Lys)
c.5841T>G (p.Asn1947Lys)
c.5766T>G (p.Asn1922Lys)
c.5361T>G (p.Asn1787Lys)
c.4719T>G (p.Asn1573Lys)
c.2229T>G (p.Asn743Lys)
n.6144T>G
10g.71785094T=CA1918862687CDH23c.5706T= (p.Asn1902=)
c.5721T= (p.Asn1907=)
c.5901T= (p.Asn1967=)
c.5835T= (p.Asn1945=)
c.5898T= (p.Asn1966=)
c.5895T= (p.Asn1965=)
c.5841T= (p.Asn1947=)
c.5766T= (p.Asn1922=)
c.5361T= (p.Asn1787=)
c.4719T= (p.Asn1573=)
c.2229T= (p.Asn743=)
n.6144T=
10g.71785095G>ACA377147323CDH23c.5707G>A (p.Ala1903Thr)
c.5722G>A (p.Ala1908Thr)
c.5902G>A (p.Ala1968Thr)
c.5836G>A (p.Ala1946Thr)
c.5899G>A (p.Ala1967Thr)
c.5896G>A (p.Ala1966Thr)
c.5842G>A (p.Ala1948Thr)
c.5767G>A (p.Ala1923Thr)
c.5362G>A (p.Ala1788Thr)
c.4720G>A (p.Ala1574Thr)
c.2230G>A (p.Ala744Thr)
n.6145G>A
10g.71785095G>CCA377147324CDH23c.5707G>C (p.Ala1903Pro)
c.5722G>C (p.Ala1908Pro)
c.5902G>C (p.Ala1968Pro)
c.5836G>C (p.Ala1946Pro)
c.5899G>C (p.Ala1967Pro)
c.5896G>C (p.Ala1966Pro)
c.5842G>C (p.Ala1948Pro)
c.5767G>C (p.Ala1923Pro)
c.5362G>C (p.Ala1788Pro)
c.4720G>C (p.Ala1574Pro)
c.2230G>C (p.Ala744Pro)
n.6145G>C
10g.71785095G>TCA377147330CDH23c.5707G>T (p.Ala1903Ser)
c.5722G>T (p.Ala1908Ser)
c.5902G>T (p.Ala1968Ser)
c.5836G>T (p.Ala1946Ser)
c.5899G>T (p.Ala1967Ser)
c.5896G>T (p.Ala1966Ser)
c.5842G>T (p.Ala1948Ser)
c.5767G>T (p.Ala1923Ser)
c.5362G>T (p.Ala1788Ser)
c.4720G>T (p.Ala1574Ser)
c.2230G>T (p.Ala744Ser)
n.6145G>T
10g.71785096C>ACA377147335CDH23c.5708C>A (p.Ala1903Asp)
c.5723C>A (p.Ala1908Asp)
c.5903C>A (p.Ala1968Asp)
c.5837C>A (p.Ala1946Asp)
c.5900C>A (p.Ala1967Asp)
c.5897C>A (p.Ala1966Asp)
c.5843C>A (p.Ala1948Asp)
c.5768C>A (p.Ala1923Asp)
c.5363C>A (p.Ala1788Asp)
c.4721C>A (p.Ala1574Asp)
c.2231C>A (p.Ala744Asp)
n.6146C>A
10g.71785096C>GCA377147338CDH23c.5708C>G (p.Ala1903Gly)
c.5723C>G (p.Ala1908Gly)
c.5903C>G (p.Ala1968Gly)
c.5837C>G (p.Ala1946Gly)
c.5900C>G (p.Ala1967Gly)
c.5897C>G (p.Ala1966Gly)
c.5843C>G (p.Ala1948Gly)
c.5768C>G (p.Ala1923Gly)
c.5363C>G (p.Ala1788Gly)
c.4721C>G (p.Ala1574Gly)
c.2231C>G (p.Ala744Gly)
n.6146C>G
10g.71785096C>TCA377147340CDH23c.5708C>T (p.Ala1903Val)
c.5723C>T (p.Ala1908Val)
c.5903C>T (p.Ala1968Val)
c.5837C>T (p.Ala1946Val)
c.5900C>T (p.Ala1967Val)
c.5897C>T (p.Ala1966Val)
c.5843C>T (p.Ala1948Val)
c.5768C>T (p.Ala1923Val)
c.5363C>T (p.Ala1788Val)
c.4721C>T (p.Ala1574Val)
c.2231C>T (p.Ala744Val)
n.6146C>T
10g.71785097C>ACA470060810CDH23c.5709C>A (p.Ala1903=)
c.5724C>A (p.Ala1908=)
c.5904C>A (p.Ala1968=)
c.5838C>A (p.Ala1946=)
c.5901C>A (p.Ala1967=)
c.5898C>A (p.Ala1966=)
c.5844C>A (p.Ala1948=)
c.5769C>A (p.Ala1923=)
c.5364C>A (p.Ala1788=)
c.4722C>A (p.Ala1574=)
c.2232C>A (p.Ala744=)
n.6147C>A
10g.71785097C=CA1918862690CDH23c.5709C= (p.Ala1903=)
c.5724C= (p.Ala1908=)
c.5904C= (p.Ala1968=)
c.5838C= (p.Ala1946=)
c.5901C= (p.Ala1967=)
c.5898C= (p.Ala1966=)
c.5844C= (p.Ala1948=)
c.5769C= (p.Ala1923=)
c.5364C= (p.Ala1788=)
c.4722C= (p.Ala1574=)
c.2232C= (p.Ala744=)
n.6147C=
10g.71785097C>GCA470060811CDH23c.5709C>G (p.Ala1903=)
c.5724C>G (p.Ala1908=)
c.5904C>G (p.Ala1968=)
c.5838C>G (p.Ala1946=)
c.5901C>G (p.Ala1967=)
c.5898C>G (p.Ala1966=)
c.5844C>G (p.Ala1948=)
c.5769C>G (p.Ala1923=)
c.5364C>G (p.Ala1788=)
c.4722C>G (p.Ala1574=)
c.2232C>G (p.Ala744=)
n.6147C>G
10g.71785097C>TCA5545843CDH23c.5709C>T (p.Ala1903=)
c.5724C>T (p.Ala1908=)
c.5904C>T (p.Ala1968=)
c.5838C>T (p.Ala1946=)
c.5901C>T (p.Ala1967=)
c.5898C>T (p.Ala1966=)
c.5844C>T (p.Ala1948=)
c.5769C>T (p.Ala1923=)
c.5364C>T (p.Ala1788=)
c.4722C>T (p.Ala1574=)
c.2232C>T (p.Ala744=)
n.6147C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71785097_71785103delinsCACGGTACA1918862691CDH23c.5709_5712+3delinsCACGGTA
c.5724_5727+3delinsCACGGTA
c.5904_5907+3delinsCACGGTA
c.5838_5841+3delinsCACGGTA
c.5901_5904+3delinsCACGGTA
c.5898_5901+3delinsCACGGTA
c.5844_5847+3delinsCACGGTA
c.5769_5772+3delinsCACGGTA
c.5364_5367+3delinsCACGGTA
c.4722_4725+3delinsCACGGTA
c.2232_2235+3delinsCACGGTA
n.6147_6150+3delinsCACGGTA
10g.71785097_71785098insCTCA2609544113CDH23c.5709_5710insCT (p.Thr1904LeufsTer8)
c.5724_5725insCT (p.Thr1909LeufsTer8)
c.5904_5905insCT (p.Thr1969LeufsTer8)
c.5838_5839insCT (p.Thr1947LeufsTer8)
c.5901_5902insCT (p.Thr1968LeufsTer8)
c.5898_5899insCT (p.Thr1967LeufsTer8)
c.5844_5845insCT (p.Thr1949LeufsTer8)
c.5769_5770insCT (p.Thr1924LeufsTer8)
c.5364_5365insCT (p.Thr1789LeufsTer8)
c.4722_4723insCT (p.Thr1575LeufsTer8)
c.2232_2233insCT (p.Thr745LeufsTer8)
n.6147_6148insCT
 gnomAD v4
10g.71785098A>CCA377147351CDH23c.5710A>C (p.Thr1904Pro)
c.5725A>C (p.Thr1909Pro)
c.5905A>C (p.Thr1969Pro)
c.5839A>C (p.Thr1947Pro)
c.5902A>C (p.Thr1968Pro)
c.5899A>C (p.Thr1967Pro)
c.5845A>C (p.Thr1949Pro)
c.5770A>C (p.Thr1924Pro)
c.5365A>C (p.Thr1789Pro)
c.4723A>C (p.Thr1575Pro)
c.2233A>C (p.Thr745Pro)
n.6148A>C
10g.71785098A>GCA377147356CDH23c.5710A>G (p.Thr1904Ala)
c.5725A>G (p.Thr1909Ala)
c.5905A>G (p.Thr1969Ala)
c.5839A>G (p.Thr1947Ala)
c.5902A>G (p.Thr1968Ala)
c.5899A>G (p.Thr1967Ala)
c.5845A>G (p.Thr1949Ala)
c.5770A>G (p.Thr1924Ala)
c.5365A>G (p.Thr1789Ala)
c.4723A>G (p.Thr1575Ala)
c.2233A>G (p.Thr745Ala)
n.6148A>G
10g.71785098A>TCA377147359CDH23c.5710A>T (p.Thr1904Ser)
c.5725A>T (p.Thr1909Ser)
c.5905A>T (p.Thr1969Ser)
c.5839A>T (p.Thr1947Ser)
c.5902A>T (p.Thr1968Ser)
c.5899A>T (p.Thr1967Ser)
c.5845A>T (p.Thr1949Ser)
c.5770A>T (p.Thr1924Ser)
c.5365A>T (p.Thr1789Ser)
c.4723A>T (p.Thr1575Ser)
c.2233A>T (p.Thr745Ser)
n.6148A>T
10g.71785098_71785103delCA915945951CDH23c.5710_5712+3del
c.5725_5727+3del
c.5905_5907+3del
c.5839_5841+3del
c.5902_5904+3del
c.5899_5901+3del
c.5845_5847+3del
c.5770_5772+3del
c.5365_5367+3del
c.4723_4725+3del
c.2233_2235+3del
n.6148_6150+3del
 ClinVar dbSNP
10g.71785099C>ACA377147360CDH23c.5711C>A (p.Thr1904Lys)
c.5726C>A (p.Thr1909Lys)
c.5906C>A (p.Thr1969Lys)
c.5840C>A (p.Thr1947Lys)
c.5903C>A (p.Thr1968Lys)
c.5900C>A (p.Thr1967Lys)
c.5846C>A (p.Thr1949Lys)
c.5771C>A (p.Thr1924Lys)
c.5366C>A (p.Thr1789Lys)
c.4724C>A (p.Thr1575Lys)
c.2234C>A (p.Thr745Lys)
n.6149C>A
10g.71785099C=CA1918862702CDH23c.5711C= (p.Thr1904=)
c.5726C= (p.Thr1909=)
c.5906C= (p.Thr1969=)
c.5840C= (p.Thr1947=)
c.5903C= (p.Thr1968=)
c.5900C= (p.Thr1967=)
c.5846C= (p.Thr1949=)
c.5771C= (p.Thr1924=)
c.5366C= (p.Thr1789=)
c.4724C= (p.Thr1575=)
c.2234C= (p.Thr745=)
n.6149C=
10g.71785099C>GCA377147361CDH23c.5711C>G (p.Thr1904Arg)
c.5726C>G (p.Thr1909Arg)
c.5906C>G (p.Thr1969Arg)
c.5840C>G (p.Thr1947Arg)
c.5903C>G (p.Thr1968Arg)
c.5900C>G (p.Thr1967Arg)
c.5846C>G (p.Thr1949Arg)
c.5771C>G (p.Thr1924Arg)
c.5366C>G (p.Thr1789Arg)
c.4724C>G (p.Thr1575Arg)
c.2234C>G (p.Thr745Arg)
n.6149C>G
10g.71785099C>TCA5545844CDH23c.5711C>T (p.Thr1904Met)
c.5726C>T (p.Thr1909Met)
c.5906C>T (p.Thr1969Met)
c.5840C>T (p.Thr1947Met)
c.5903C>T (p.Thr1968Met)
c.5900C>T (p.Thr1967Met)
c.5846C>T (p.Thr1949Met)
c.5771C>T (p.Thr1924Met)
c.5366C>T (p.Thr1789Met)
c.4724C>T (p.Thr1575Met)
c.2234C>T (p.Thr745Met)
n.6149C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785100G>ACA261788CDH23c.5712G>A (p.Thr1904=)
c.5727G>A (p.Thr1909=)
c.5907G>A (p.Thr1969=)
c.5841G>A (p.Thr1947=)
c.5904G>A (p.Thr1968=)
c.5901G>A (p.Thr1967=)
c.5847G>A (p.Thr1949=)
c.5772G>A (p.Thr1924=)
c.5367G>A (p.Thr1789=)
c.4725G>A (p.Thr1575=)
c.2235G>A (p.Thr745=)
n.6150G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71785100G>CCA470060812CDH23c.5712G>C (p.Thr1904=)
c.5727G>C (p.Thr1909=)
c.5907G>C (p.Thr1969=)
c.5841G>C (p.Thr1947=)
c.5904G>C (p.Thr1968=)
c.5901G>C (p.Thr1967=)
c.5847G>C (p.Thr1949=)
c.5772G>C (p.Thr1924=)
c.5367G>C (p.Thr1789=)
c.4725G>C (p.Thr1575=)
c.2235G>C (p.Thr745=)
n.6150G>C
 gnomAD v4
10g.71785100G=CA1918862716CDH23c.5712G= (p.Thr1904=)
c.5727G= (p.Thr1909=)
c.5907G= (p.Thr1969=)
c.5841G= (p.Thr1947=)
c.5904G= (p.Thr1968=)
c.5901G= (p.Thr1967=)
c.5847G= (p.Thr1949=)
c.5772G= (p.Thr1924=)
c.5367G= (p.Thr1789=)
c.4725G= (p.Thr1575=)
c.2235G= (p.Thr745=)
n.6150G=
10g.71785100G>TCA470060813CDH23c.5712G>T (p.Thr1904=)
c.5727G>T (p.Thr1909=)
c.5907G>T (p.Thr1969=)
c.5841G>T (p.Thr1947=)
c.5904G>T (p.Thr1968=)
c.5901G>T (p.Thr1967=)
c.5847G>T (p.Thr1949=)
c.5772G>T (p.Thr1924=)
c.5367G>T (p.Thr1789=)
c.4725G>T (p.Thr1575=)
c.2235G>T (p.Thr745=)
n.6150G>T
10g.71785101G>ACA261787CDH23c.5712+1G>A (n.5712+1G>A)
c.5727+1G>A (n.5727+1G>A)
c.5907+1G>A (n.5907+1G>A)
c.5841+1G>A (n.5841+1G>A)
c.5904+1G>A (n.5904+1G>A)
c.5901+1G>A (n.5901+1G>A)
c.5847+1G>A (n.5847+1G>A)
c.5772+1G>A (n.5772+1G>A)
c.5367+1G>A (n.5367+1G>A)
c.4725+1G>A (n.4725+1G>A)
c.2235+1G>A (n.2235+1G>A)
n.6150+1G>A
 ClinVar dbSNP gnomAD v4
10g.71785101G>CCA377147378CDH23c.5712+1G>C (n.5712+1G>C)
c.5727+1G>C (n.5727+1G>C)
c.5907+1G>C (n.5907+1G>C)
c.5841+1G>C (n.5841+1G>C)
c.5904+1G>C (n.5904+1G>C)
c.5901+1G>C (n.5901+1G>C)
c.5847+1G>C (n.5847+1G>C)
c.5772+1G>C (n.5772+1G>C)
c.5367+1G>C (n.5367+1G>C)
c.4725+1G>C (n.4725+1G>C)
c.2235+1G>C (n.2235+1G>C)
n.6150+1G>C
 dbSNP
10g.71785101G=CA1918862725CDH23c.5712+1G= (n.5712+1G=)
c.5727+1G= (n.5727+1G=)
c.5907+1G= (n.5907+1G=)
c.5841+1G= (n.5841+1G=)
c.5904+1G= (n.5904+1G=)
c.5901+1G= (n.5901+1G=)
c.5847+1G= (n.5847+1G=)
c.5772+1G= (n.5772+1G=)
c.5367+1G= (n.5367+1G=)
c.4725+1G= (n.4725+1G=)
c.2235+1G= (n.2235+1G=)
n.6150+1G=
10g.71785101G>TCA377147372CDH23c.5712+1G>T (n.5712+1G>T)
c.5727+1G>T (n.5727+1G>T)
c.5907+1G>T (n.5907+1G>T)
c.5841+1G>T (n.5841+1G>T)
c.5904+1G>T (n.5904+1G>T)
c.5901+1G>T (n.5901+1G>T)
c.5847+1G>T (n.5847+1G>T)
c.5772+1G>T (n.5772+1G>T)
c.5367+1G>T (n.5367+1G>T)
c.4725+1G>T (n.4725+1G>T)
c.2235+1G>T (n.2235+1G>T)
n.6150+1G>T
10g.71785102T>ACA377147381CDH23c.5712+2T>A (n.5712+2T>A)
c.5727+2T>A (n.5727+2T>A)
c.5907+2T>A (n.5907+2T>A)
c.5841+2T>A (n.5841+2T>A)
c.5904+2T>A (n.5904+2T>A)
c.5901+2T>A (n.5901+2T>A)
c.5847+2T>A (n.5847+2T>A)
c.5772+2T>A (n.5772+2T>A)
c.5367+2T>A (n.5367+2T>A)
c.4725+2T>A (n.4725+2T>A)
c.2235+2T>A (n.2235+2T>A)
n.6150+2T>A
10g.71785102T>CCA377147382CDH23c.5712+2T>C (n.5712+2T>C)
c.5727+2T>C (n.5727+2T>C)
c.5907+2T>C (n.5907+2T>C)
c.5841+2T>C (n.5841+2T>C)
c.5904+2T>C (n.5904+2T>C)
c.5901+2T>C (n.5901+2T>C)
c.5847+2T>C (n.5847+2T>C)
c.5772+2T>C (n.5772+2T>C)
c.5367+2T>C (n.5367+2T>C)
c.4725+2T>C (n.4725+2T>C)
c.2235+2T>C (n.2235+2T>C)
n.6150+2T>C
10g.71785102T>GCA377147384CDH23c.5712+2T>G (n.5712+2T>G)
c.5727+2T>G (n.5727+2T>G)
c.5907+2T>G (n.5907+2T>G)
c.5841+2T>G (n.5841+2T>G)
c.5904+2T>G (n.5904+2T>G)
c.5901+2T>G (n.5901+2T>G)
c.5847+2T>G (n.5847+2T>G)
c.5772+2T>G (n.5772+2T>G)
c.5367+2T>G (n.5367+2T>G)
c.4725+2T>G (n.4725+2T>G)
c.2235+2T>G (n.2235+2T>G)
n.6150+2T>G
10g.71785104G>ACA1918862733CDH23c.5712+4G>A (n.5712+4G>A)
c.5727+4G>A (n.5727+4G>A)
c.5907+4G>A (n.5907+4G>A)
c.5841+4G>A (n.5841+4G>A)
c.5904+4G>A (n.5904+4G>A)
c.5901+4G>A (n.5901+4G>A)
c.5847+4G>A (n.5847+4G>A)
c.5772+4G>A (n.5772+4G>A)
c.5367+4G>A (n.5367+4G>A)
c.4725+4G>A (n.4725+4G>A)
c.2235+4G>A (n.2235+4G>A)
n.6150+4G>A
 dbSNP gnomAD v4
10g.71785104G>CCA209457692CDH23c.5712+4G>C (n.5712+4G>C)
c.5727+4G>C (n.5727+4G>C)
c.5907+4G>C (n.5907+4G>C)
c.5841+4G>C (n.5841+4G>C)
c.5904+4G>C (n.5904+4G>C)
c.5901+4G>C (n.5901+4G>C)
c.5847+4G>C (n.5847+4G>C)
c.5772+4G>C (n.5772+4G>C)
c.5367+4G>C (n.5367+4G>C)
c.4725+4G>C (n.4725+4G>C)
c.2235+4G>C (n.2235+4G>C)
n.6150+4G>C
 dbSNP
10g.71785104G=CA1918862731CDH23c.5712+4G= (n.5712+4G=)
c.5727+4G= (n.5727+4G=)
c.5907+4G= (n.5907+4G=)
c.5841+4G= (n.5841+4G=)
c.5904+4G= (n.5904+4G=)
c.5901+4G= (n.5901+4G=)
c.5847+4G= (n.5847+4G=)
c.5772+4G= (n.5772+4G=)
c.5367+4G= (n.5367+4G=)
c.4725+4G= (n.4725+4G=)
c.2235+4G= (n.2235+4G=)
n.6150+4G=
10g.71785109_71785328delCA2788480878CDH23c.5712+9_5712+228del (n.5712+9_5712+228del)
c.5727+9_5727+228del (n.5727+9_5727+228del)
c.5907+9_5907+228del (n.5907+9_5907+228del)
c.5841+9_5841+228del (n.5841+9_5841+228del)
c.5904+9_5904+228del (n.5904+9_5904+228del)
c.5901+9_5901+228del (n.5901+9_5901+228del)
c.5847+9_5847+228del (n.5847+9_5847+228del)
c.5772+9_5772+228del (n.5772+9_5772+228del)
c.5367+9_5367+228del (n.5367+9_5367+228del)
c.4725+9_4725+228del (n.4725+9_4725+228del)
c.2235+9_2235+228del (n.2235+9_2235+228del)
n.6150+9_6150+228del
10g.71785105_71785106insAGACA2788480879CDH23c.5712+5_5712+6insAGA (n.5712+5_5712+6insAGA)
c.5727+5_5727+6insAGA (n.5727+5_5727+6insAGA)
c.5907+5_5907+6insAGA (n.5907+5_5907+6insAGA)
c.5841+5_5841+6insAGA (n.5841+5_5841+6insAGA)
c.5904+5_5904+6insAGA (n.5904+5_5904+6insAGA)
c.5901+5_5901+6insAGA (n.5901+5_5901+6insAGA)
c.5847+5_5847+6insAGA (n.5847+5_5847+6insAGA)
c.5772+5_5772+6insAGA (n.5772+5_5772+6insAGA)
c.5367+5_5367+6insAGA (n.5367+5_5367+6insAGA)
c.4725+5_4725+6insAGA (n.4725+5_4725+6insAGA)
c.2235+5_2235+6insAGA (n.2235+5_2235+6insAGA)
n.6150+5_6150+6insAGA
10g.71785106G>ACA2788480880CDH23c.5712+6G>A (n.5712+6G>A)
c.5727+6G>A (n.5727+6G>A)
c.5907+6G>A (n.5907+6G>A)
c.5841+6G>A (n.5841+6G>A)
c.5904+6G>A (n.5904+6G>A)
c.5901+6G>A (n.5901+6G>A)
c.5847+6G>A (n.5847+6G>A)
c.5772+6G>A (n.5772+6G>A)
c.5367+6G>A (n.5367+6G>A)
c.4725+6G>A (n.4725+6G>A)
c.2235+6G>A (n.2235+6G>A)
n.6150+6G>A
10g.71785107C>TCA2609544129CDH23c.5712+7C>T (n.5712+7C>T)
c.5727+7C>T (n.5727+7C>T)
c.5907+7C>T (n.5907+7C>T)
c.5841+7C>T (n.5841+7C>T)
c.5904+7C>T (n.5904+7C>T)
c.5901+7C>T (n.5901+7C>T)
c.5847+7C>T (n.5847+7C>T)
c.5772+7C>T (n.5772+7C>T)
c.5367+7C>T (n.5367+7C>T)
c.4725+7C>T (n.4725+7C>T)
c.2235+7C>T (n.2235+7C>T)
n.6150+7C>T
 gnomAD v4

Number of alleles fetched