Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71785008C>A | CA377146785 | CDH23 | c.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 | |
10 | g.71785008C>G | CA377146784 | CDH23 | c.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 | |
10 | g.71785008C>T | CA470060755 | CDH23 | c.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 | |
10 | g.71785009T>A | CA377146787 | CDH23 | c.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 | |
10 | g.71785009T>C | CA377146790 | CDH23 | c.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 | |
10 | g.71785009T>G | CA5545818 | CDH23 | c.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 |
10 | g.71785009T= | CA1918862346 | CDH23 | c.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= | |
10 | g.71785010G>A | CA470060756 | CDH23 | c.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 | |
10 | g.71785010G>C | CA470060757 | CDH23 | c.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 |
10 | g.71785010G>T | CA470060758 | CDH23 | c.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 | |
10 | g.71785011G>A | CA377146793 | CDH23 | c.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 | |
10 | g.71785011G>C | CA377146797 | CDH23 | c.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 | |
10 | g.71785011G>T | CA377146795 | CDH23 | c.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 |
10 | g.71785012C>A | CA377146801 | CDH23 | c.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 | |
10 | g.71785012C>G | CA377146803 | CDH23 | c.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 | |
10 | g.71785012C>T | CA377146806 | CDH23 | c.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 |
10 | g.71785013C>A | CA470060759 | CDH23 | c.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 | |
10 | g.71785013C>G | CA470060761 | CDH23 | c.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 | |
10 | g.71785013C>T | CA470060760 | CDH23 | c.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 |
10 | g.71785014A>C | CA377146809 | CDH23 | c.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 | |
10 | g.71785014A>G | CA377146810 | CDH23 | c.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 | |
10 | g.71785014A>T | CA377146812 | CDH23 | c.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 | |
10 | g.71785015G>A | CA209457528 | CDH23 | c.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 |
10 | g.71785015G>C | CA377146814 | CDH23 | c.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 | |
10 | g.71785015G= | CA1918862354 | CDH23 | c.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= | |
10 | g.71785015G>T | CA377146815 | CDH23 | c.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 | |
10 | g.71785015_71785021delinsGTGACGC | CA1918862356 | CDH23 | c.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 | |
10 | g.71785016T>A | CA377146818 | CDH23 | c.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 | |
10 | g.71785016T>C | CA470060762 | CDH23 | c.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 | |
10 | g.71785016T>G | CA377146821 | CDH23 | c.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 | |
10 | g.71785020_71785025del | CA1139661498 | CDH23 | c.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 |
10 | g.71785017G>A | CA377146824 | CDH23 | c.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 |
10 | g.71785017G>C | CA377146827 | CDH23 | c.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 | |
10 | g.71785017G= | CA1918862363 | CDH23 | c.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= | |
10 | g.71785017G>T | CA377146829 | CDH23 | c.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 | |
10 | g.71785018A>C | CA377146836 | CDH23 | c.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 | |
10 | g.71785018A>G | CA377146832 | CDH23 | c.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 | |
10 | g.71785018A>T | CA377146834 | CDH23 | c.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 | |
10 | g.71785019C>A | CA377146838 | CDH23 | c.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 | |
10 | g.71785019C= | CA1918862371 | CDH23 | c.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= | |
10 | g.71785019C>G | CA377146840 | CDH23 | c.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 | |
10 | g.71785019C>T | CA5545819 | CDH23 | c.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 |
10 | g.71785020G>A | CA5545820 | CDH23 | c.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 |
10 | g.71785020G>C | CA377146845 | CDH23 | c.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 | |
10 | g.71785020G= | CA1918862378 | CDH23 | c.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= | |
10 | g.71785020G>T | CA377146848 | CDH23 | c.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 |
10 | g.71785021C>A | CA377146850 | CDH23 | c.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 | |
10 | g.71785021C>G | CA377146852 | CDH23 | c.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 | |
10 | g.71785021C>T | CA377146856 | CDH23 | c.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 |
10 | g.71785022T>A | CA470060765 | CDH23 | c.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 |
10 | g.71785022T>C | CA470060763 | CDH23 | c.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 |
10 | g.71785022T>G | CA470060764 | CDH23 | c.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 | |
10 | g.71785022T= | CA1918862382 | CDH23 | c.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= | |
10 | g.71785022dup | CA2788480771 | CDH23 | c.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 | |
10 | g.71785023G>A | CA377146859 | CDH23 | c.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 |
10 | g.71785023G>C | CA377146861 | CDH23 | c.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 | |
10 | g.71785023G>T | CA377146864 | CDH23 | c.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 | |
10 | g.71785024A>C | CA377146867 | CDH23 | c.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 | |
10 | g.71785024A>G | CA377146871 | CDH23 | c.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 |
10 | g.71785024A>T | CA377146868 | CDH23 | c.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 | |
10 | g.71785025C>A | CA377146874 | CDH23 | c.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 | |
10 | g.71785025C>G | CA377146877 | CDH23 | c.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 | |
10 | g.71785025C>T | CA470060766 | CDH23 | c.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 | |
10 | g.71785026A= | CA1918862388 | CDH23 | c.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= | |
10 | g.71785026A>C | CA5545821 | CDH23 | c.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 |
10 | g.71785026A>G | CA377146882 | CDH23 | c.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 | |
10 | g.71785026A>T | CA377146883 | CDH23 | c.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 | |
10 | g.71785027G>A | CA377146888 | CDH23 | c.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 |
10 | g.71785027G>C | CA377146891 | CDH23 | c.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 | |
10 | g.71785027G= | CA1918862394 | CDH23 | c.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= | |
10 | g.71785027G>T | CA377146893 | CDH23 | c.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 | |
10 | g.71785028T>A | CA377146896 | CDH23 | c.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 | |
10 | g.71785028T>C | CA470060767 | CDH23 | c.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 | |
10 | g.71785028T>G | CA377146901 | CDH23 | c.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 | |
10 | g.71785028_71785029delinsTG | CA1918862396 | CDH23 | c.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 | |
10 | g.71785029G>A | CA377146903 | CDH23 | c.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 |
10 | g.71785029G>C | CA377146905 | CDH23 | c.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 | |
10 | g.71785029G>T | CA377146920 | CDH23 | c.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 | |
10 | g.71785030del | CA668098180 | CDH23 | c.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 |
10 | g.71785030G>A | CA377146925 | CDH23 | c.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 | |
10 | g.71785030G>C | CA377146929 | CDH23 | c.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 | |
10 | g.71785030G>T | CA377146927 | CDH23 | c.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 | |
10 | g.71785031C>A | CA470060768 | CDH23 | c.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 | |
10 | g.71785031C>G | CA470060769 | CDH23 | c.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 | |
10 | g.71785031C>T | CA470060770 | CDH23 | c.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 | |
10 | g.71785031dup | CA2838827950 | CDH23 | c.5643dup (p.Cys1882LeufsTer?) c.5658dup (p.Cys1887LeufsTer?) c.5838dup (p.Cys1947LeufsTer?) c.5772dup (p.Cys1925LeufsTer?) c.5835dup (p.Cys1946LeufsTer?) c.5832dup (p.Cys1945LeufsTer?) c.5778dup (p.Cys1927LeufsTer?) c.5703dup (p.Cys1902LeufsTer?) c.5298dup (p.Cys1767LeufsTer?) c.4656dup (p.Cys1553LeufsTer?) c.2166dup (p.Cys723LeufsTer?) n.6081dup | |
10 | g.71785032T>A | CA377146931 | CDH23 | c.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 | |
10 | g.71785032T>C | CA377146933 | CDH23 | c.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 | |
10 | g.71785032T>G | CA377146935 | CDH23 | c.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 |
10 | g.71785032T= | CA1918862400 | CDH23 | c.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= | |
10 | g.71785033G>A | CA5545822 | CDH23 | c.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 |
10 | g.71785033G>C | CA377146939 | CDH23 | c.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 | |
10 | g.71785033G= | CA1918862403 | CDH23 | c.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= | |
10 | g.71785033G>T | CA377146940 | CDH23 | c.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 | |
10 | g.71785034C>A | CA377146943 | CDH23 | c.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 | |
10 | g.71785034C= | CA1918862407 | CDH23 | c.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= | |
10 | g.71785034C>G | CA5545823 | CDH23 | c.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 |
10 | g.71785034C>T | CA5545824 | CDH23 | c.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 |
10 | g.71785035A= | CA1918862416 | CDH23 | c.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= | |
10 | g.71785035A>C | CA5545825 | CDH23 | c.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 |
10 | g.71785035A>G | CA209457552 | CDH23 | c.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 |
10 | g.71785035A>T | CA377146947 | CDH23 | c.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 | |
10 | g.71785036dup | CA2840286332 | CDH23 | c.5648dup (p.Asn1883LysfsTer?) c.5663dup (p.Asn1888LysfsTer?) c.5843dup (p.Asn1948LysfsTer?) c.5777dup (p.Asn1926LysfsTer?) c.5840dup (p.Asn1947LysfsTer?) c.5837dup (p.Asn1946LysfsTer?) c.5783dup (p.Asn1928LysfsTer?) c.5708dup (p.Asn1903LysfsTer?) c.5303dup (p.Asn1768LysfsTer?) c.4661dup (p.Asn1554LysfsTer?) c.2171dup (p.Asn724LysfsTer?) n.6086dup | |
10 | g.71785036A= | CA1918862428 | CDH23 | c.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= | |
10 | g.71785036A>C | CA377146957 | CDH23 | c.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 | |
10 | g.71785036A>G | CA377146958 | CDH23 | c.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 |
10 | g.71785036A>T | CA377146962 | CDH23 | c.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 | |
10 | g.71785037T>A | CA377146965 | CDH23 | c.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 |
10 | g.71785037T>C | CA470060771 | CDH23 | c.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 |
10 | g.71785037T>G | CA377146968 | CDH23 | c.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 | |
10 | g.71785037T= | CA1918862431 | CDH23 | c.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= | |
10 | g.71785038G>A | CA377146977 | CDH23 | c.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 |
10 | g.71785038G>C | CA377146974 | CDH23 | c.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 | |
10 | g.71785038G= | CA1918862434 | CDH23 | c.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= | |
10 | g.71785038G>T | CA377146971 | CDH23 | c.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 | |
10 | g.71785039C>A | CA377146981 | CDH23 | c.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 | |
10 | g.71785039C>G | CA377146983 | CDH23 | c.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 | |
10 | g.71785039C>T | CA377146985 | CDH23 | c.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 | |
10 | g.71785040A>C | CA470060772 | CDH23 | c.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 | |
10 | g.71785040A>G | CA470060773 | CDH23 | c.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 | |
10 | g.71785040A>T | CA470060774 | CDH23 | c.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 |
10 | g.71785041C>A | CA377146990 | CDH23 | c.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 |
10 | g.71785041C= | CA1918862441 | CDH23 | c.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= | |
10 | g.71785041C>G | CA377146992 | CDH23 | c.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 | |
10 | g.71785041C>T | CA5545826 | CDH23 | c.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 |
10 | g.71785042G>A | CA5545827 | CDH23 | c.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 |
10 | g.71785042G>C | CA377146993 | CDH23 | c.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 | |
10 | g.71785042G= | CA1918862448 | CDH23 | c.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= | |
10 | g.71785042G>T | CA377146996 | CDH23 | c.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 |
10 | g.71785043C>A | CA470060777 | CDH23 | c.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 | |
10 | g.71785043C>G | CA470060775 | CDH23 | c.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 | |
10 | g.71785043C>T | CA470060776 | CDH23 | c.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 | |
10 | g.71785044C>A | CA377147000 | CDH23 | c.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 | |
10 | g.71785044C>G | CA377147001 | CDH23 | c.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 | |
10 | g.71785044C>T | CA377147004 | CDH23 | c.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 |
10 | g.71785045T>A | CA377147006 | CDH23 | c.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 | |
10 | g.71785045T>C | CA377147009 | CDH23 | c.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 | |
10 | g.71785045T>G | CA377147011 | CDH23 | c.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 | |
10 | g.71785046del | CA2837994866 | CDH23 | c.5658del (p.Thr1887ProfsTer24) c.5673del (p.Thr1892ProfsTer24) c.5853del (p.Thr1952ProfsTer24) c.5787del (p.Thr1930ProfsTer24) c.5850del (p.Thr1951ProfsTer24) c.5847del (p.Thr1950ProfsTer24) c.5793del (p.Thr1932ProfsTer24) c.5718del (p.Thr1907ProfsTer24) c.5313del (p.Thr1772ProfsTer24) c.4671del (p.Thr1558ProfsTer24) c.2181del (p.Thr728ProfsTer24) n.6096del | |
10 | g.71785046C>A | CA470060778 | CDH23 | c.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 | |
10 | g.71785046C= | CA1918862452 | CDH23 | c.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= | |
10 | g.71785046C>G | CA470060779 | CDH23 | c.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 | |
10 | g.71785046C>T | CA209457561 | CDH23 | c.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 |
10 | g.71785047A>C | CA377147018 | CDH23 | c.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 | |
10 | g.71785047A>G | CA377147021 | CDH23 | c.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 |
10 | g.71785047A>T | CA377147024 | CDH23 | c.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 | |
10 | g.71785048C>A | CA377147025 | CDH23 | c.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 |
10 | g.71785048C= | CA1918862460 | CDH23 | c.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= | |
10 | g.71785048C>G | CA377147026 | CDH23 | c.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 | |
10 | g.71785048C>T | CA137502 | CDH23 | c.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 |
10 | g.71785049C>A | CA470060781 | CDH23 | c.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 | |
10 | g.71785049C= | CA1918862470 | CDH23 | c.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= | |
10 | g.71785049C>G | CA470060780 | CDH23 | c.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 | |
10 | g.71785049C>T | CA209457579 | CDH23 | c.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 |
10 | g.71785050T>A | CA377147028 | CDH23 | c.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 | |
10 | g.71785050T>C | CA377147030 | CDH23 | c.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 | |
10 | g.71785050T>G | CA377147029 | CDH23 | c.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 | |
10 | g.71785051T>A | CA377147031 | CDH23 | c.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 | |
10 | g.71785051T>C | CA253336 | CDH23 | c.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 |
10 | g.71785051T>G | CA377147032 | CDH23 | c.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 | |
10 | g.71785051T= | CA1918862478 | CDH23 | c.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= | |
10 | g.71785051_71785054del | CA2609543977 | CDH23 | c.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 |
10 | g.71785052C>A | CA377147034 | CDH23 | c.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 | |
10 | g.71785052C>G | CA377147035 | CDH23 | c.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 | |
10 | g.71785052C>T | CA470060782 | CDH23 | c.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 |
10 | g.71785053A>C | CA377147039 | CDH23 | c.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 | |
10 | g.71785053A>G | CA377147040 | CDH23 | c.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 | |
10 | g.71785053A>T | CA377147042 | CDH23 | c.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 | |
10 | g.71785054A>C | CA377147044 | CDH23 | c.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 | |
10 | g.71785054A>G | CA377147046 | CDH23 | c.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 | |
10 | g.71785054A>T | CA377147050 | CDH23 | c.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 | |
10 | g.71785054_71785055delinsAC | CA1918862486 | CDH23 | c.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 | |
10 | g.71785055del | CA594706072 | CDH23 | c.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 |
10 | g.71785055C>A | CA377147052 | CDH23 | c.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 |
10 | g.71785055C= | CA1918862499 | CDH23 | c.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= | |
10 | g.71785055C>G | CA377147051 | CDH23 | c.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 | |
10 | g.71785055C>T | CA5545828 | CDH23 | c.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 |
10 | g.71785056A= | CA1918862512 | CDH23 | c.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= | |
10 | g.71785056A>C | CA377147055 | CDH23 | c.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 | |
10 | g.71785056A>G | CA377147056 | CDH23 | c.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 | |
10 | g.71785056A>T | CA377147060 | CDH23 | c.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 |
10 | g.71785057T>A | CA377147062 | CDH23 | c.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 | |
10 | g.71785057T>C | CA377147065 | CDH23 | c.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 |
10 | g.71785057T>G | CA377147067 | CDH23 | c.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 | |
10 | g.71785058C>A | CA470060783 | CDH23 | c.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 | |
10 | g.71785058C>G | CA377147068 | CDH23 | c.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 | |
10 | g.71785058C>T | CA470060784 | CDH23 | c.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 | |
10 | g.71785059A>C | CA377147069 | CDH23 | c.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 | |
10 | g.71785059A>G | CA377147070 | CDH23 | c.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 |
10 | g.71785059A>T | CA377147072 | CDH23 | c.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 | |
10 | g.71785060C>A | CA377147075 | CDH23 | c.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 | |
10 | g.71785060C= | CA1918862518 | CDH23 | c.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= | |
10 | g.71785060C>G | CA377147077 | CDH23 | c.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 |
10 | g.71785060C>T | CA377147078 | CDH23 | c.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 |
10 | g.71785061T>A | CA470060785 | CDH23 | c.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 | |
10 | g.71785061T>C | CA5545829 | CDH23 | c.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 |
10 | g.71785061T>G | CA470060786 | CDH23 | c.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 | |
10 | g.71785061T= | CA1918862527 | CDH23 | c.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= | |
10 | g.71785062G>A | CA184937 | CDH23 | c.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 |
10 | g.71785062G>C | CA377147083 | CDH23 | c.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 | |
10 | g.71785062G= | CA1918862536 | CDH23 | c.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= | |
10 | g.71785062G>T | CA5545830 | CDH23 | c.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 |
10 | g.71785063C>A | CA377147086 | CDH23 | c.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 | |
10 | g.71785063C= | CA1918862545 | CDH23 | c.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= | |
10 | g.71785063C>G | CA377147087 | CDH23 | c.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 |
10 | g.71785063C>T | CA5545831 | CDH23 | c.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 |
10 | g.71785064G>A | CA5545832 | CDH23 | c.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 |
10 | g.71785064G>C | CA470060787 | CDH23 | c.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 |
10 | g.71785064G= | CA1918862560 | CDH23 | c.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= | |
10 | g.71785064G>T | CA470060788 | CDH23 | c.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 | |
10 | g.71785066del | CA2839202980 | CDH23 | c.5678del (p.Gly1893AlafsTer18) c.5693del (p.Gly1898AlafsTer18) c.5873del (p.Gly1958AlafsTer18) c.5807del (p.Gly1936AlafsTer18) c.5870del (p.Gly1957AlafsTer18) c.5867del (p.Gly1956AlafsTer18) c.5813del (p.Gly1938AlafsTer18) c.5738del (p.Gly1913AlafsTer18) c.5333del (p.Gly1778AlafsTer18) c.4691del (p.Gly1564AlafsTer18) c.2201del (p.Gly734AlafsTer18) n.6116del | |
10 | g.71785065G>A | CA377147090 | CDH23 | c.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 |
10 | g.71785065G>C | CA377147091 | CDH23 | c.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 | |
10 | g.71785065G>T | CA377147092 | CDH23 | c.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 | |
10 | g.71785066G>A | CA377147094 | CDH23 | c.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 |
10 | g.71785066G>C | CA377147097 | CDH23 | c.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 | |
10 | g.71785066G>T | CA377147101 | CDH23 | c.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 | |
10 | g.71785067C>A | CA470060789 | CDH23 | c.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 | |
10 | g.71785067C>G | CA470060790 | CDH23 | c.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 | |
10 | g.71785067C>T | CA470060791 | CDH23 | c.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 | |
10 | g.71785068A>C | CA377147105 | CDH23 | c.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 | |
10 | g.71785068A>G | CA377147106 | CDH23 | c.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 | |
10 | g.71785068A>T | CA377147107 | CDH23 | c.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 | |
10 | g.71785069dup | CA2840286333 | CDH23 | c.5681dup (p.Asn1894LysfsTer?) c.5696dup (p.Asn1899LysfsTer?) c.5876dup (p.Asn1959LysfsTer?) c.5810dup (p.Asn1937LysfsTer?) c.5873dup (p.Asn1958LysfsTer?) c.5870dup (p.Asn1957LysfsTer?) c.5816dup (p.Asn1939LysfsTer?) c.5741dup (p.Asn1914LysfsTer?) c.5336dup (p.Asn1779LysfsTer?) c.4694dup (p.Asn1565LysfsTer?) c.2204dup (p.Asn735LysfsTer?) n.6119dup | |
10 | g.71785069A= | CA1918862567 | CDH23 | c.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= | |
10 | g.71785069A>C | CA5545833 | CDH23 | c.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 |
10 | g.71785069A>G | CA377147108 | CDH23 | c.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 |
10 | g.71785069A>T | CA377147110 | CDH23 | c.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 | |
10 | g.71785070C>A | CA377147114 | CDH23 | c.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 |
10 | g.71785070C= | CA1918862572 | CDH23 | c.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= | |
10 | g.71785070C>G | CA377147117 | CDH23 | c.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 | |
10 | g.71785070C>T | CA5545834 | CDH23 | c.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 |
10 | g.71785071C>A | CA377147119 | CDH23 | c.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 | |
10 | g.71785071C= | CA1918862577 | CDH23 | c.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= | |
10 | g.71785071C>G | CA377147121 | CDH23 | c.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 | |
10 | g.71785071C>T | CA5545835 | CDH23 | c.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 |
10 | g.71785072G>A | CA5545836 | CDH23 | c.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 |
10 | g.71785072G>C | CA377147127 | CDH23 | c.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 |
10 | g.71785072G= | CA1918862605 | CDH23 | c.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= | |
10 | g.71785072G>T | CA377147129 | CDH23 | c.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 |
10 | g.71785073C>A | CA470060794 | CDH23 | c.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 | |
10 | g.71785073C= | CA1918862612 | CDH23 | c.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= | |
10 | g.71785073C>G | CA470060793 | CDH23 | c.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 | |
10 | g.71785073C>T | CA209457611 | CDH23 | c.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 |
10 | g.71785074G>A | CA377147137 | CDH23 | c.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 |
10 | g.71785074G>C | CA377147140 | CDH23 | c.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 |
10 | g.71785074G= | CA1918862623 | CDH23 | c.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= | |
10 | g.71785074G>T | CA377147143 | CDH23 | c.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 | |
10 | g.71785075A>C | CA377147151 | CDH23 | c.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 | |
10 | g.71785075A>G | CA377147148 | CDH23 | c.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 | |
10 | g.71785075A>T | CA377147147 | CDH23 | c.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 | |
10 | g.71785076G>A | CA5545837 | CDH23 | c.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 |
10 | g.71785076G>C | CA377147152 | CDH23 | c.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 |
10 | g.71785076G= | CA1918862627 | CDH23 | c.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= | |
10 | g.71785076G>T | CA377147154 | CDH23 | c.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 |
10 | g.71785077C>A | CA470060795 | CDH23 | c.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 |
10 | g.71785077C= | CA1918862635 | CDH23 | c.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= | |
10 | g.71785077C>G | CA377147156 | CDH23 | c.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 | |
10 | g.71785077C>T | CA5545838 | CDH23 | c.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 |
10 | g.71785078G>A | CA5545839 | CDH23 | c.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 |
10 | g.71785078G>C | CA377147163 | CDH23 | c.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 |
10 | g.71785078G= | CA1918862646 | CDH23 | c.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= | |
10 | g.71785078G>T | CA377147159 | CDH23 | c.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 |
10 | g.71785079G>A | CA470060796 | CDH23 | c.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 |
10 | g.71785079G>C | CA470060797 | CDH23 | c.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 | |
10 | g.71785079G>T | CA470060798 | CDH23 | c.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 | |
10 | g.71785079_71785080insACA | CA2788480864 | CDH23 | c.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 | |
10 | g.71785080G>A | CA5545840 | CDH23 | c.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 |
10 | g.71785080G>C | CA377147174 | CDH23 | c.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 | |
10 | g.71785080G= | CA1918862653 | CDH23 | c.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= | |
10 | g.71785080G>T | CA377147177 | CDH23 | c.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 |
10 | g.71785081C>A | CA377147187 | CDH23 | c.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 |
10 | g.71785081C= | CA1918862665 | CDH23 | c.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= | |
10 | g.71785081C>G | CA377147190 | CDH23 | c.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 | |
10 | g.71785081C>T | CA377147193 | CDH23 | c.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 |
10 | g.71785082C>A | CA470060800 | CDH23 | c.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 |
10 | g.71785082C= | CA1918862671 | CDH23 | c.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= | |
10 | g.71785082C>G | CA470060801 | CDH23 | c.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 | |
10 | g.71785082C>T | CA470060802 | CDH23 | c.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 | |
10 | g.71785082_71785083insACA | CA2788480870 | CDH23 | c.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 | |
10 | g.71785083T>A | CA377147195 | CDH23 | c.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 | |
10 | g.71785083T>C | CA377147205 | CDH23 | c.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 | |
10 | g.71785083T>G | CA377147199 | CDH23 | c.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 | |
10 | g.71785084T>A | CA377147208 | CDH23 | c.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 | |
10 | g.71785084T>C | CA377147211 | CDH23 | c.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 | |
10 | g.71785084T>G | CA377147214 | CDH23 | c.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 |
10 | g.71785085C>A | CA377147215 | CDH23 | c.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 | |
10 | g.71785085C>G | CA377147216 | CDH23 | c.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 | |
10 | g.71785085C>T | CA470060804 | CDH23 | c.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 | |
10 | g.71785086T>A | CA377147225 | CDH23 | c.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 | |
10 | g.71785086T>C | CA377147226 | CDH23 | c.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 |
10 | g.71785086T>G | CA377147228 | CDH23 | c.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 | |
10 | g.71785086T= | CA1918862675 | CDH23 | c.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= | |
10 | g.71785087T>A | CA377147234 | CDH23 | c.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 | |
10 | g.71785087T>C | CA377147244 | CDH23 | c.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 | |
10 | g.71785087T>G | CA377147260 | CDH23 | c.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 |
10 | g.71785088C>A | CA377147264 | CDH23 | c.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 | |
10 | g.71785088C= | CA1918862679 | CDH23 | c.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= | |
10 | g.71785088C>G | CA377147263 | CDH23 | c.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 | |
10 | g.71785088C>T | CA470060806 | CDH23 | c.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 |
10 | g.71785089A= | CA1918862683 | CDH23 | c.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= | |
10 | g.71785089A>C | CA5545841 | CDH23 | c.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 |
10 | g.71785089A>G | CA377147275 | CDH23 | c.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 |
10 | g.71785089A>T | CA377147277 | CDH23 | c.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 |
10 | g.71785090T>A | CA377147279 | CDH23 | c.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 | |
10 | g.71785090T>C | CA377147282 | CDH23 | c.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 | |
10 | g.71785090T>G | CA377147283 | CDH23 | c.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 | |
10 | g.71785091C>A | CA470060808 | CDH23 | c.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 | |
10 | g.71785091C>G | CA377147284 | CDH23 | c.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 | |
10 | g.71785091C>T | CA470060807 | CDH23 | c.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 | |
10 | g.71785092A= | CA1918862684 | CDH23 | c.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= | |
10 | g.71785092A>C | CA377147285 | CDH23 | c.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 | |
10 | g.71785092A>G | CA377147289 | CDH23 | c.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 |
10 | g.71785092A>T | CA377147302 | CDH23 | c.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 | |
10 | g.71785093A>C | CA377147306 | CDH23 | c.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 | |
10 | g.71785093A>G | CA377147307 | CDH23 | c.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 |
10 | g.71785093A>T | CA377147311 | CDH23 | c.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 | |
10 | g.71785094T>A | CA377147317 | CDH23 | c.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 | |
10 | g.71785094T>C | CA5545842 | CDH23 | c.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 |
10 | g.71785094T>G | CA377147316 | CDH23 | c.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 | |
10 | g.71785094T= | CA1918862687 | CDH23 | c.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= | |
10 | g.71785095G>A | CA377147323 | CDH23 | c.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 | |
10 | g.71785095G>C | CA377147324 | CDH23 | c.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 | |
10 | g.71785095G>T | CA377147330 | CDH23 | c.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 | |
10 | g.71785096C>A | CA377147335 | CDH23 | c.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 | |
10 | g.71785096C>G | CA377147338 | CDH23 | c.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 | |
10 | g.71785096C>T | CA377147340 | CDH23 | c.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 | |
10 | g.71785097C>A | CA470060810 | CDH23 | c.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 | |
10 | g.71785097C= | CA1918862690 | CDH23 | c.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= | |
10 | g.71785097C>G | CA470060811 | CDH23 | c.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 | |
10 | g.71785097C>T | CA5545843 | CDH23 | c.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 |
10 | g.71785097_71785103delinsCACGGTA | CA1918862691 | CDH23 | c.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 | |
10 | g.71785097_71785098insCT | CA2609544113 | CDH23 | c.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 |
10 | g.71785098A>C | CA377147351 | CDH23 | c.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 | |
10 | g.71785098A>G | CA377147356 | CDH23 | c.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 | |
10 | g.71785098A>T | CA377147359 | CDH23 | c.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 | |
10 | g.71785098_71785103del | CA915945951 | CDH23 | c.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 |
10 | g.71785099C>A | CA377147360 | CDH23 | c.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 | |
10 | g.71785099C= | CA1918862702 | CDH23 | c.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= | |
10 | g.71785099C>G | CA377147361 | CDH23 | c.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 | |
10 | g.71785099C>T | CA5545844 | CDH23 | c.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 |
10 | g.71785100G>A | CA261788 | CDH23 | c.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 |
10 | g.71785100G>C | CA470060812 | CDH23 | c.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 |
10 | g.71785100G= | CA1918862716 | CDH23 | c.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= | |
10 | g.71785100G>T | CA470060813 | CDH23 | c.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 | |
10 | g.71785101G>A | CA261787 | CDH23 | c.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 |
10 | g.71785101G>C | CA377147378 | CDH23 | c.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 |
10 | g.71785101G= | CA1918862725 | CDH23 | c.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= | |
10 | g.71785101G>T | CA377147372 | CDH23 | c.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 | |
10 | g.71785102T>A | CA377147381 | CDH23 | c.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 | |
10 | g.71785102T>C | CA377147382 | CDH23 | c.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 | |
10 | g.71785102T>G | CA377147384 | CDH23 | c.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 | |
10 | g.71785104G>A | CA1918862733 | CDH23 | c.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 |
10 | g.71785104G>C | CA209457692 | CDH23 | c.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 |
10 | g.71785104G= | CA1918862731 | CDH23 | c.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= | |
10 | g.71785106dup | CA2838201094 | CDH23 | c.5712+6dup (n.5712+6dup) c.5727+6dup (n.5727+6dup) c.5907+6dup (n.5907+6dup) c.5841+6dup (n.5841+6dup) c.5904+6dup (n.5904+6dup) c.5901+6dup (n.5901+6dup) c.5847+6dup (n.5847+6dup) c.5772+6dup (n.5772+6dup) c.5367+6dup (n.5367+6dup) c.4725+6dup (n.4725+6dup) c.2235+6dup (n.2235+6dup) n.6150+6dup | |
10 | g.71785109_71785328del | CA2788480878 | CDH23 | c.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 | |
10 | g.71785105G>T | CA2840286334 | CDH23 | c.5712+5G>T (n.5712+5G>T) c.5727+5G>T (n.5727+5G>T) c.5907+5G>T (n.5907+5G>T) c.5841+5G>T (n.5841+5G>T) c.5904+5G>T (n.5904+5G>T) c.5901+5G>T (n.5901+5G>T) c.5847+5G>T (n.5847+5G>T) c.5772+5G>T (n.5772+5G>T) c.5367+5G>T (n.5367+5G>T) c.4725+5G>T (n.4725+5G>T) c.2235+5G>T (n.2235+5G>T) n.6150+5G>T | |
10 | g.71785105_71785106insAGA | CA2788480879 | CDH23 | c.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 | |
10 | g.71785106G>A | CA2788480880 | CDH23 | c.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 | |
10 | g.71785107C>T | CA2609544129 | CDH23 | c.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 |
10 | g.71785108C>A | CA2788480882 | CDH23 | c.5712+8C>A (n.5712+8C>A) c.5727+8C>A (n.5727+8C>A) c.5907+8C>A (n.5907+8C>A) c.5841+8C>A (n.5841+8C>A) c.5904+8C>A (n.5904+8C>A) c.5901+8C>A (n.5901+8C>A) c.5847+8C>A (n.5847+8C>A) c.5772+8C>A (n.5772+8C>A) c.5367+8C>A (n.5367+8C>A) c.4725+8C>A (n.4725+8C>A) c.2235+8C>A (n.2235+8C>A) n.6150+8C>A | |
10 | g.71785108C>T | CA2609544131 | CDH23 | c.5712+8C>T (n.5712+8C>T) c.5727+8C>T (n.5727+8C>T) c.5907+8C>T (n.5907+8C>T) c.5841+8C>T (n.5841+8C>T) c.5904+8C>T (n.5904+8C>T) c.5901+8C>T (n.5901+8C>T) c.5847+8C>T (n.5847+8C>T) c.5772+8C>T (n.5772+8C>T) c.5367+8C>T (n.5367+8C>T) c.4725+8C>T (n.4725+8C>T) c.2235+8C>T (n.2235+8C>T) n.6150+8C>T | dbSNP gnomAD v4 |