Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71784965C>A | CA470060729 | CDH23 | c.5577C>A (p.Thr1859=) c.5592C>A (p.Thr1864=) c.5772C>A (p.Thr1924=) c.5706C>A (p.Thr1902=) c.5769C>A (p.Thr1923=) c.5766C>A (p.Thr1922=) c.5712C>A (p.Thr1904=) c.5637C>A (p.Thr1879=) c.5232C>A (p.Thr1744=) c.4590C>A (p.Thr1530=) c.2100C>A (p.Thr700=) n.6015C>A | |
10 | g.71784965C= | CA1918862253 | CDH23 | c.5577C= (p.Thr1859=) c.5592C= (p.Thr1864=) c.5772C= (p.Thr1924=) c.5706C= (p.Thr1902=) c.5769C= (p.Thr1923=) c.5766C= (p.Thr1922=) c.5712C= (p.Thr1904=) c.5637C= (p.Thr1879=) c.5232C= (p.Thr1744=) c.4590C= (p.Thr1530=) c.2100C= (p.Thr700=) n.6015C= | |
10 | g.71784965C>G | CA470060730 | CDH23 | c.5577C>G (p.Thr1859=) c.5592C>G (p.Thr1864=) c.5772C>G (p.Thr1924=) c.5706C>G (p.Thr1902=) c.5769C>G (p.Thr1923=) c.5766C>G (p.Thr1922=) c.5712C>G (p.Thr1904=) c.5637C>G (p.Thr1879=) c.5232C>G (p.Thr1744=) c.4590C>G (p.Thr1530=) c.2100C>G (p.Thr700=) n.6015C>G | |
10 | g.71784965C>T | CA209457495 | CDH23 | c.5577C>T (p.Thr1859=) c.5592C>T (p.Thr1864=) c.5772C>T (p.Thr1924=) c.5706C>T (p.Thr1902=) c.5769C>T (p.Thr1923=) c.5766C>T (p.Thr1922=) c.5712C>T (p.Thr1904=) c.5637C>T (p.Thr1879=) c.5232C>T (p.Thr1744=) c.4590C>T (p.Thr1530=) c.2100C>T (p.Thr700=) n.6015C>T | dbSNP |
10 | g.71784966A= | CA1918862263 | CDH23 | c.5578A= (p.Ile1860=) c.5593A= (p.Ile1865=) c.5773A= (p.Ile1925=) c.5707A= (p.Ile1903=) c.5770A= (p.Ile1924=) c.5767A= (p.Ile1923=) c.5713A= (p.Ile1905=) c.5638A= (p.Ile1880=) c.5233A= (p.Ile1745=) c.4591A= (p.Ile1531=) c.2101A= (p.Ile701=) n.6016A= | |
10 | g.71784966A>C | CA377146644 | CDH23 | c.5578A>C (p.Ile1860Leu) c.5593A>C (p.Ile1865Leu) c.5773A>C (p.Ile1925Leu) c.5707A>C (p.Ile1903Leu) c.5770A>C (p.Ile1924Leu) c.5767A>C (p.Ile1923Leu) c.5713A>C (p.Ile1905Leu) c.5638A>C (p.Ile1880Leu) c.5233A>C (p.Ile1745Leu) c.4591A>C (p.Ile1531Leu) c.2101A>C (p.Ile701Leu) n.6016A>C | |
10 | g.71784966A>G | CA209457499 | CDH23 | c.5578A>G (p.Ile1860Val) c.5593A>G (p.Ile1865Val) c.5773A>G (p.Ile1925Val) c.5707A>G (p.Ile1903Val) c.5770A>G (p.Ile1924Val) c.5767A>G (p.Ile1923Val) c.5713A>G (p.Ile1905Val) c.5638A>G (p.Ile1880Val) c.5233A>G (p.Ile1745Val) c.4591A>G (p.Ile1531Val) c.2101A>G (p.Ile701Val) n.6016A>G | ClinVar dbSNP |
10 | g.71784966A>T | CA5545811 | CDH23 | c.5578A>T (p.Ile1860Phe) c.5593A>T (p.Ile1865Phe) c.5773A>T (p.Ile1925Phe) c.5707A>T (p.Ile1903Phe) c.5770A>T (p.Ile1924Phe) c.5767A>T (p.Ile1923Phe) c.5713A>T (p.Ile1905Phe) c.5638A>T (p.Ile1880Phe) c.5233A>T (p.Ile1745Phe) c.4591A>T (p.Ile1531Phe) c.2101A>T (p.Ile701Phe) n.6016A>T | dbSNP ExAC gnomAD v4 |
10 | g.71784967T>A | CA377146646 | CDH23 | c.5579T>A (p.Ile1860Asn) c.5594T>A (p.Ile1865Asn) c.5774T>A (p.Ile1925Asn) c.5708T>A (p.Ile1903Asn) c.5771T>A (p.Ile1924Asn) c.5768T>A (p.Ile1923Asn) c.5714T>A (p.Ile1905Asn) c.5639T>A (p.Ile1880Asn) c.5234T>A (p.Ile1745Asn) c.4592T>A (p.Ile1531Asn) c.2102T>A (p.Ile701Asn) n.6017T>A | |
10 | g.71784967T>C | CA377146648 | CDH23 | c.5579T>C (p.Ile1860Thr) c.5594T>C (p.Ile1865Thr) c.5774T>C (p.Ile1925Thr) c.5708T>C (p.Ile1903Thr) c.5771T>C (p.Ile1924Thr) c.5768T>C (p.Ile1923Thr) c.5714T>C (p.Ile1905Thr) c.5639T>C (p.Ile1880Thr) c.5234T>C (p.Ile1745Thr) c.4592T>C (p.Ile1531Thr) c.2102T>C (p.Ile701Thr) n.6017T>C | |
10 | g.71784967T>G | CA377146650 | CDH23 | c.5579T>G (p.Ile1860Ser) c.5594T>G (p.Ile1865Ser) c.5774T>G (p.Ile1925Ser) c.5708T>G (p.Ile1903Ser) c.5771T>G (p.Ile1924Ser) c.5768T>G (p.Ile1923Ser) c.5714T>G (p.Ile1905Ser) c.5639T>G (p.Ile1880Ser) c.5234T>G (p.Ile1745Ser) c.4592T>G (p.Ile1531Ser) c.2102T>G (p.Ile701Ser) n.6017T>G | |
10 | g.71784968C>A | CA470060731 | CDH23 | c.5580C>A (p.Ile1860=) c.5595C>A (p.Ile1865=) c.5775C>A (p.Ile1925=) c.5709C>A (p.Ile1903=) c.5772C>A (p.Ile1924=) c.5769C>A (p.Ile1923=) c.5715C>A (p.Ile1905=) c.5640C>A (p.Ile1880=) c.5235C>A (p.Ile1745=) c.4593C>A (p.Ile1531=) c.2103C>A (p.Ile701=) n.6018C>A | |
10 | g.71784968C>G | CA377146652 | CDH23 | c.5580C>G (p.Ile1860Met) c.5595C>G (p.Ile1865Met) c.5775C>G (p.Ile1925Met) c.5709C>G (p.Ile1903Met) c.5772C>G (p.Ile1924Met) c.5769C>G (p.Ile1923Met) c.5715C>G (p.Ile1905Met) c.5640C>G (p.Ile1880Met) c.5235C>G (p.Ile1745Met) c.4593C>G (p.Ile1531Met) c.2103C>G (p.Ile701Met) n.6018C>G | |
10 | g.71784968C>T | CA470060732 | CDH23 | c.5580C>T (p.Ile1860=) c.5595C>T (p.Ile1865=) c.5775C>T (p.Ile1925=) c.5709C>T (p.Ile1903=) c.5772C>T (p.Ile1924=) c.5769C>T (p.Ile1923=) c.5715C>T (p.Ile1905=) c.5640C>T (p.Ile1880=) c.5235C>T (p.Ile1745=) c.4593C>T (p.Ile1531=) c.2103C>T (p.Ile701=) n.6018C>T | |
10 | g.71784969A>C | CA377146656 | CDH23 | c.5581A>C (p.Ser1861Arg) c.5596A>C (p.Ser1866Arg) c.5776A>C (p.Ser1926Arg) c.5710A>C (p.Ser1904Arg) c.5773A>C (p.Ser1925Arg) c.5770A>C (p.Ser1924Arg) c.5716A>C (p.Ser1906Arg) c.5641A>C (p.Ser1881Arg) c.5236A>C (p.Ser1746Arg) c.4594A>C (p.Ser1532Arg) c.2104A>C (p.Ser702Arg) n.6019A>C | |
10 | g.71784969A>G | CA377146655 | CDH23 | c.5581A>G (p.Ser1861Gly) c.5596A>G (p.Ser1866Gly) c.5776A>G (p.Ser1926Gly) c.5710A>G (p.Ser1904Gly) c.5773A>G (p.Ser1925Gly) c.5770A>G (p.Ser1924Gly) c.5716A>G (p.Ser1906Gly) c.5641A>G (p.Ser1881Gly) c.5236A>G (p.Ser1746Gly) c.4594A>G (p.Ser1532Gly) c.2104A>G (p.Ser702Gly) n.6019A>G | |
10 | g.71784969A>T | CA377146653 | CDH23 | c.5581A>T (p.Ser1861Cys) c.5596A>T (p.Ser1866Cys) c.5776A>T (p.Ser1926Cys) c.5710A>T (p.Ser1904Cys) c.5773A>T (p.Ser1925Cys) c.5770A>T (p.Ser1924Cys) c.5716A>T (p.Ser1906Cys) c.5641A>T (p.Ser1881Cys) c.5236A>T (p.Ser1746Cys) c.4594A>T (p.Ser1532Cys) c.2104A>T (p.Ser702Cys) n.6019A>T | |
10 | g.71784970G>A | CA377146658 | CDH23 | c.5582G>A (p.Ser1861Asn) c.5597G>A (p.Ser1866Asn) c.5777G>A (p.Ser1926Asn) c.5711G>A (p.Ser1904Asn) c.5774G>A (p.Ser1925Asn) c.5771G>A (p.Ser1924Asn) c.5717G>A (p.Ser1906Asn) c.5642G>A (p.Ser1881Asn) c.5237G>A (p.Ser1746Asn) c.4595G>A (p.Ser1532Asn) c.2105G>A (p.Ser702Asn) n.6020G>A | gnomAD v4 |
10 | g.71784970G>C | CA377146660 | CDH23 | c.5582G>C (p.Ser1861Thr) c.5597G>C (p.Ser1866Thr) c.5777G>C (p.Ser1926Thr) c.5711G>C (p.Ser1904Thr) c.5774G>C (p.Ser1925Thr) c.5771G>C (p.Ser1924Thr) c.5717G>C (p.Ser1906Thr) c.5642G>C (p.Ser1881Thr) c.5237G>C (p.Ser1746Thr) c.4595G>C (p.Ser1532Thr) c.2105G>C (p.Ser702Thr) n.6020G>C | |
10 | g.71784970G>T | CA377146661 | CDH23 | c.5582G>T (p.Ser1861Ile) c.5597G>T (p.Ser1866Ile) c.5777G>T (p.Ser1926Ile) c.5711G>T (p.Ser1904Ile) c.5774G>T (p.Ser1925Ile) c.5771G>T (p.Ser1924Ile) c.5717G>T (p.Ser1906Ile) c.5642G>T (p.Ser1881Ile) c.5237G>T (p.Ser1746Ile) c.4595G>T (p.Ser1532Ile) c.2105G>T (p.Ser702Ile) n.6020G>T | |
10 | g.71784971C>A | CA377146662 | CDH23 | c.5583C>A (p.Ser1861Arg) c.5598C>A (p.Ser1866Arg) c.5778C>A (p.Ser1926Arg) c.5712C>A (p.Ser1904Arg) c.5775C>A (p.Ser1925Arg) c.5772C>A (p.Ser1924Arg) c.5718C>A (p.Ser1906Arg) c.5643C>A (p.Ser1881Arg) c.5238C>A (p.Ser1746Arg) c.4596C>A (p.Ser1532Arg) c.2106C>A (p.Ser702Arg) n.6021C>A | |
10 | g.71784971C= | CA1918862271 | CDH23 | c.5583C= (p.Ser1861=) c.5598C= (p.Ser1866=) c.5778C= (p.Ser1926=) c.5712C= (p.Ser1904=) c.5775C= (p.Ser1925=) c.5772C= (p.Ser1924=) c.5718C= (p.Ser1906=) c.5643C= (p.Ser1881=) c.5238C= (p.Ser1746=) c.4596C= (p.Ser1532=) c.2106C= (p.Ser702=) n.6021C= | |
10 | g.71784971C>G | CA377146663 | CDH23 | c.5583C>G (p.Ser1861Arg) c.5598C>G (p.Ser1866Arg) c.5778C>G (p.Ser1926Arg) c.5712C>G (p.Ser1904Arg) c.5775C>G (p.Ser1925Arg) c.5772C>G (p.Ser1924Arg) c.5718C>G (p.Ser1906Arg) c.5643C>G (p.Ser1881Arg) c.5238C>G (p.Ser1746Arg) c.4596C>G (p.Ser1532Arg) c.2106C>G (p.Ser702Arg) n.6021C>G | |
10 | g.71784971C>T | CA5545812 | CDH23 | c.5583C>T (p.Ser1861=) c.5598C>T (p.Ser1866=) c.5778C>T (p.Ser1926=) c.5712C>T (p.Ser1904=) c.5775C>T (p.Ser1925=) c.5772C>T (p.Ser1924=) c.5718C>T (p.Ser1906=) c.5643C>T (p.Ser1881=) c.5238C>T (p.Ser1746=) c.4596C>T (p.Ser1532=) c.2106C>T (p.Ser702=) n.6021C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784972G>A | CA5545813 | CDH23 | c.5584G>A (p.Glu1862Lys) c.5599G>A (p.Glu1867Lys) c.5779G>A (p.Glu1927Lys) c.5713G>A (p.Glu1905Lys) c.5776G>A (p.Glu1926Lys) c.5773G>A (p.Glu1925Lys) c.5719G>A (p.Glu1907Lys) c.5644G>A (p.Glu1882Lys) c.5239G>A (p.Glu1747Lys) c.4597G>A (p.Glu1533Lys) c.2107G>A (p.Glu703Lys) n.6022G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71784972G>C | CA377146665 | CDH23 | c.5584G>C (p.Glu1862Gln) c.5599G>C (p.Glu1867Gln) c.5779G>C (p.Glu1927Gln) c.5713G>C (p.Glu1905Gln) c.5776G>C (p.Glu1926Gln) c.5773G>C (p.Glu1925Gln) c.5719G>C (p.Glu1907Gln) c.5644G>C (p.Glu1882Gln) c.5239G>C (p.Glu1747Gln) c.4597G>C (p.Glu1533Gln) c.2107G>C (p.Glu703Gln) n.6022G>C | |
10 | g.71784972G= | CA1918862280 | CDH23 | c.5584G= (p.Glu1862=) c.5599G= (p.Glu1867=) c.5779G= (p.Glu1927=) c.5713G= (p.Glu1905=) c.5776G= (p.Glu1926=) c.5773G= (p.Glu1925=) c.5719G= (p.Glu1907=) c.5644G= (p.Glu1882=) c.5239G= (p.Glu1747=) c.4597G= (p.Glu1533=) c.2107G= (p.Glu703=) n.6022G= | |
10 | g.71784972G>T | CA377146666 | CDH23 | c.5584G>T (p.Glu1862Ter) c.5599G>T (p.Glu1867Ter) c.5779G>T (p.Glu1927Ter) c.5713G>T (p.Glu1905Ter) c.5776G>T (p.Glu1926Ter) c.5773G>T (p.Glu1925Ter) c.5719G>T (p.Glu1907Ter) c.5644G>T (p.Glu1882Ter) c.5239G>T (p.Glu1747Ter) c.4597G>T (p.Glu1533Ter) c.2107G>T (p.Glu703Ter) n.6022G>T | dbSNP |
10 | g.71784973A>C | CA377146668 | CDH23 | c.5585A>C (p.Glu1862Ala) c.5600A>C (p.Glu1867Ala) c.5780A>C (p.Glu1927Ala) c.5714A>C (p.Glu1905Ala) c.5777A>C (p.Glu1926Ala) c.5774A>C (p.Glu1925Ala) c.5720A>C (p.Glu1907Ala) c.5645A>C (p.Glu1882Ala) c.5240A>C (p.Glu1747Ala) c.4598A>C (p.Glu1533Ala) c.2108A>C (p.Glu703Ala) n.6023A>C | |
10 | g.71784973A>G | CA377146669 | CDH23 | c.5585A>G (p.Glu1862Gly) c.5600A>G (p.Glu1867Gly) c.5780A>G (p.Glu1927Gly) c.5714A>G (p.Glu1905Gly) c.5777A>G (p.Glu1926Gly) c.5774A>G (p.Glu1925Gly) c.5720A>G (p.Glu1907Gly) c.5645A>G (p.Glu1882Gly) c.5240A>G (p.Glu1747Gly) c.4598A>G (p.Glu1533Gly) c.2108A>G (p.Glu703Gly) n.6023A>G | |
10 | g.71784973A>T | CA377146670 | CDH23 | c.5585A>T (p.Glu1862Val) c.5600A>T (p.Glu1867Val) c.5780A>T (p.Glu1927Val) c.5714A>T (p.Glu1905Val) c.5777A>T (p.Glu1926Val) c.5774A>T (p.Glu1925Val) c.5720A>T (p.Glu1907Val) c.5645A>T (p.Glu1882Val) c.5240A>T (p.Glu1747Val) c.4598A>T (p.Glu1533Val) c.2108A>T (p.Glu703Val) n.6023A>T | |
10 | g.71784974G>A | CA470060733 | CDH23 | c.5586G>A (p.Glu1862=) c.5601G>A (p.Glu1867=) c.5781G>A (p.Glu1927=) c.5715G>A (p.Glu1905=) c.5778G>A (p.Glu1926=) c.5775G>A (p.Glu1925=) c.5721G>A (p.Glu1907=) c.5646G>A (p.Glu1882=) c.5241G>A (p.Glu1747=) c.4599G>A (p.Glu1533=) c.2109G>A (p.Glu703=) n.6024G>A | ClinVar gnomAD v4 |
10 | g.71784974G>C | CA377146672 | CDH23 | c.5586G>C (p.Glu1862Asp) c.5601G>C (p.Glu1867Asp) c.5781G>C (p.Glu1927Asp) c.5715G>C (p.Glu1905Asp) c.5778G>C (p.Glu1926Asp) c.5775G>C (p.Glu1925Asp) c.5721G>C (p.Glu1907Asp) c.5646G>C (p.Glu1882Asp) c.5241G>C (p.Glu1747Asp) c.4599G>C (p.Glu1533Asp) c.2109G>C (p.Glu703Asp) n.6024G>C | |
10 | g.71784974G>T | CA377146674 | CDH23 | c.5586G>T (p.Glu1862Asp) c.5601G>T (p.Glu1867Asp) c.5781G>T (p.Glu1927Asp) c.5715G>T (p.Glu1905Asp) c.5778G>T (p.Glu1926Asp) c.5775G>T (p.Glu1925Asp) c.5721G>T (p.Glu1907Asp) c.5646G>T (p.Glu1882Asp) c.5241G>T (p.Glu1747Asp) c.4599G>T (p.Glu1533Asp) c.2109G>T (p.Glu703Asp) n.6024G>T | |
10 | g.71784975A>C | CA377146676 | CDH23 | c.5587A>C (p.Asn1863His) c.5602A>C (p.Asn1868His) c.5782A>C (p.Asn1928His) c.5716A>C (p.Asn1906His) c.5779A>C (p.Asn1927His) c.5776A>C (p.Asn1926His) c.5722A>C (p.Asn1908His) c.5647A>C (p.Asn1883His) c.5242A>C (p.Asn1748His) c.4600A>C (p.Asn1534His) c.2110A>C (p.Asn704His) n.6025A>C | |
10 | g.71784975A>G | CA377146678 | CDH23 | c.5587A>G (p.Asn1863Asp) c.5602A>G (p.Asn1868Asp) c.5782A>G (p.Asn1928Asp) c.5716A>G (p.Asn1906Asp) c.5779A>G (p.Asn1927Asp) c.5776A>G (p.Asn1926Asp) c.5722A>G (p.Asn1908Asp) c.5647A>G (p.Asn1883Asp) c.5242A>G (p.Asn1748Asp) c.4600A>G (p.Asn1534Asp) c.2110A>G (p.Asn704Asp) n.6025A>G | gnomAD v4 |
10 | g.71784975A>T | CA377146677 | CDH23 | c.5587A>T (p.Asn1863Tyr) c.5602A>T (p.Asn1868Tyr) c.5782A>T (p.Asn1928Tyr) c.5716A>T (p.Asn1906Tyr) c.5779A>T (p.Asn1927Tyr) c.5776A>T (p.Asn1926Tyr) c.5722A>T (p.Asn1908Tyr) c.5647A>T (p.Asn1883Tyr) c.5242A>T (p.Asn1748Tyr) c.4600A>T (p.Asn1534Tyr) c.2110A>T (p.Asn704Tyr) n.6025A>T | |
10 | g.71784976A>C | CA377146680 | CDH23 | c.5588A>C (p.Asn1863Thr) c.5603A>C (p.Asn1868Thr) c.5783A>C (p.Asn1928Thr) c.5717A>C (p.Asn1906Thr) c.5780A>C (p.Asn1927Thr) c.5777A>C (p.Asn1926Thr) c.5723A>C (p.Asn1908Thr) c.5648A>C (p.Asn1883Thr) c.5243A>C (p.Asn1748Thr) c.4601A>C (p.Asn1534Thr) c.2111A>C (p.Asn704Thr) n.6026A>C | |
10 | g.71784976A>G | CA377146682 | CDH23 | c.5588A>G (p.Asn1863Ser) c.5603A>G (p.Asn1868Ser) c.5783A>G (p.Asn1928Ser) c.5717A>G (p.Asn1906Ser) c.5780A>G (p.Asn1927Ser) c.5777A>G (p.Asn1926Ser) c.5723A>G (p.Asn1908Ser) c.5648A>G (p.Asn1883Ser) c.5243A>G (p.Asn1748Ser) c.4601A>G (p.Asn1534Ser) c.2111A>G (p.Asn704Ser) n.6026A>G | |
10 | g.71784976A>T | CA377146683 | CDH23 | c.5588A>T (p.Asn1863Ile) c.5603A>T (p.Asn1868Ile) c.5783A>T (p.Asn1928Ile) c.5717A>T (p.Asn1906Ile) c.5780A>T (p.Asn1927Ile) c.5777A>T (p.Asn1926Ile) c.5723A>T (p.Asn1908Ile) c.5648A>T (p.Asn1883Ile) c.5243A>T (p.Asn1748Ile) c.4601A>T (p.Asn1534Ile) c.2111A>T (p.Asn704Ile) n.6026A>T | |
10 | g.71784977C>A | CA377146685 | CDH23 | c.5589C>A (p.Asn1863Lys) c.5604C>A (p.Asn1868Lys) c.5784C>A (p.Asn1928Lys) c.5718C>A (p.Asn1906Lys) c.5781C>A (p.Asn1927Lys) c.5778C>A (p.Asn1926Lys) c.5724C>A (p.Asn1908Lys) c.5649C>A (p.Asn1883Lys) c.5244C>A (p.Asn1748Lys) c.4602C>A (p.Asn1534Lys) c.2112C>A (p.Asn704Lys) n.6027C>A | |
10 | g.71784977C>G | CA377146686 | CDH23 | c.5589C>G (p.Asn1863Lys) c.5604C>G (p.Asn1868Lys) c.5784C>G (p.Asn1928Lys) c.5718C>G (p.Asn1906Lys) c.5781C>G (p.Asn1927Lys) c.5778C>G (p.Asn1926Lys) c.5724C>G (p.Asn1908Lys) c.5649C>G (p.Asn1883Lys) c.5244C>G (p.Asn1748Lys) c.4602C>G (p.Asn1534Lys) c.2112C>G (p.Asn704Lys) n.6027C>G | |
10 | g.71784977C>T | CA470060734 | CDH23 | c.5589C>T (p.Asn1863=) c.5604C>T (p.Asn1868=) c.5784C>T (p.Asn1928=) c.5718C>T (p.Asn1906=) c.5781C>T (p.Asn1927=) c.5778C>T (p.Asn1926=) c.5724C>T (p.Asn1908=) c.5649C>T (p.Asn1883=) c.5244C>T (p.Asn1748=) c.4602C>T (p.Asn1534=) c.2112C>T (p.Asn704=) n.6027C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71784978A= | CA1918862289 | CDH23 | c.5590A= (p.Ser1864=) c.5605A= (p.Ser1869=) c.5785A= (p.Ser1929=) c.5719A= (p.Ser1907=) c.5782A= (p.Ser1928=) c.5779A= (p.Ser1927=) c.5725A= (p.Ser1909=) c.5650A= (p.Ser1884=) c.5245A= (p.Ser1749=) c.4603A= (p.Ser1535=) c.2113A= (p.Ser705=) n.6028A= | |
10 | g.71784978A>C | CA377146687 | CDH23 | c.5590A>C (p.Ser1864Arg) c.5605A>C (p.Ser1869Arg) c.5785A>C (p.Ser1929Arg) c.5719A>C (p.Ser1907Arg) c.5782A>C (p.Ser1928Arg) c.5779A>C (p.Ser1927Arg) c.5725A>C (p.Ser1909Arg) c.5650A>C (p.Ser1884Arg) c.5245A>C (p.Ser1749Arg) c.4603A>C (p.Ser1535Arg) c.2113A>C (p.Ser705Arg) n.6028A>C | |
10 | g.71784978A>G | CA377146688 | CDH23 | c.5590A>G (p.Ser1864Gly) c.5605A>G (p.Ser1869Gly) c.5785A>G (p.Ser1929Gly) c.5719A>G (p.Ser1907Gly) c.5782A>G (p.Ser1928Gly) c.5779A>G (p.Ser1927Gly) c.5725A>G (p.Ser1909Gly) c.5650A>G (p.Ser1884Gly) c.5245A>G (p.Ser1749Gly) c.4603A>G (p.Ser1535Gly) c.2113A>G (p.Ser705Gly) n.6028A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784978A>T | CA377146690 | CDH23 | c.5590A>T (p.Ser1864Cys) c.5605A>T (p.Ser1869Cys) c.5785A>T (p.Ser1929Cys) c.5719A>T (p.Ser1907Cys) c.5782A>T (p.Ser1928Cys) c.5779A>T (p.Ser1927Cys) c.5725A>T (p.Ser1909Cys) c.5650A>T (p.Ser1884Cys) c.5245A>T (p.Ser1749Cys) c.4603A>T (p.Ser1535Cys) c.2113A>T (p.Ser705Cys) n.6028A>T | |
10 | g.71784979G>A | CA377146692 | CDH23 | c.5591G>A (p.Ser1864Asn) c.5606G>A (p.Ser1869Asn) c.5786G>A (p.Ser1929Asn) c.5720G>A (p.Ser1907Asn) c.5783G>A (p.Ser1928Asn) c.5780G>A (p.Ser1927Asn) c.5726G>A (p.Ser1909Asn) c.5651G>A (p.Ser1884Asn) c.5246G>A (p.Ser1749Asn) c.4604G>A (p.Ser1535Asn) c.2114G>A (p.Ser705Asn) n.6029G>A | |
10 | g.71784979G>C | CA377146693 | CDH23 | c.5591G>C (p.Ser1864Thr) c.5606G>C (p.Ser1869Thr) c.5786G>C (p.Ser1929Thr) c.5720G>C (p.Ser1907Thr) c.5783G>C (p.Ser1928Thr) c.5780G>C (p.Ser1927Thr) c.5726G>C (p.Ser1909Thr) c.5651G>C (p.Ser1884Thr) c.5246G>C (p.Ser1749Thr) c.4604G>C (p.Ser1535Thr) c.2114G>C (p.Ser705Thr) n.6029G>C | |
10 | g.71784979G>T | CA377146695 | CDH23 | c.5591G>T (p.Ser1864Ile) c.5606G>T (p.Ser1869Ile) c.5786G>T (p.Ser1929Ile) c.5720G>T (p.Ser1907Ile) c.5783G>T (p.Ser1928Ile) c.5780G>T (p.Ser1927Ile) c.5726G>T (p.Ser1909Ile) c.5651G>T (p.Ser1884Ile) c.5246G>T (p.Ser1749Ile) c.4604G>T (p.Ser1535Ile) c.2114G>T (p.Ser705Ile) n.6029G>T | |
10 | g.71784980C>A | CA377146698 | CDH23 | c.5592C>A (p.Ser1864Arg) c.5607C>A (p.Ser1869Arg) c.5787C>A (p.Ser1929Arg) c.5721C>A (p.Ser1907Arg) c.5784C>A (p.Ser1928Arg) c.5781C>A (p.Ser1927Arg) c.5727C>A (p.Ser1909Arg) c.5652C>A (p.Ser1884Arg) c.5247C>A (p.Ser1749Arg) c.4605C>A (p.Ser1535Arg) c.2115C>A (p.Ser705Arg) n.6030C>A | |
10 | g.71784980C>G | CA377146696 | CDH23 | c.5592C>G (p.Ser1864Arg) c.5607C>G (p.Ser1869Arg) c.5787C>G (p.Ser1929Arg) c.5721C>G (p.Ser1907Arg) c.5784C>G (p.Ser1928Arg) c.5781C>G (p.Ser1927Arg) c.5727C>G (p.Ser1909Arg) c.5652C>G (p.Ser1884Arg) c.5247C>G (p.Ser1749Arg) c.4605C>G (p.Ser1535Arg) c.2115C>G (p.Ser705Arg) n.6030C>G | |
10 | g.71784980C>T | CA470060735 | CDH23 | c.5592C>T (p.Ser1864=) c.5607C>T (p.Ser1869=) c.5787C>T (p.Ser1929=) c.5721C>T (p.Ser1907=) c.5784C>T (p.Ser1928=) c.5781C>T (p.Ser1927=) c.5727C>T (p.Ser1909=) c.5652C>T (p.Ser1884=) c.5247C>T (p.Ser1749=) c.4605C>T (p.Ser1535=) c.2115C>T (p.Ser705=) n.6030C>T | ClinVar dbSNP |
10 | g.71784981C>A | CA377146700 | CDH23 | c.5593C>A (p.Pro1865Thr) c.5608C>A (p.Pro1870Thr) c.5788C>A (p.Pro1930Thr) c.5722C>A (p.Pro1908Thr) c.5785C>A (p.Pro1929Thr) c.5782C>A (p.Pro1928Thr) c.5728C>A (p.Pro1910Thr) c.5653C>A (p.Pro1885Thr) c.5248C>A (p.Pro1750Thr) c.4606C>A (p.Pro1536Thr) c.2116C>A (p.Pro706Thr) n.6031C>A | dbSNP |
10 | g.71784981C= | CA1918862296 | CDH23 | c.5593C= (p.Pro1865=) c.5608C= (p.Pro1870=) c.5788C= (p.Pro1930=) c.5722C= (p.Pro1908=) c.5785C= (p.Pro1929=) c.5782C= (p.Pro1928=) c.5728C= (p.Pro1910=) c.5653C= (p.Pro1885=) c.5248C= (p.Pro1750=) c.4606C= (p.Pro1536=) c.2116C= (p.Pro706=) n.6031C= | |
10 | g.71784981C>G | CA377146702 | CDH23 | c.5593C>G (p.Pro1865Ala) c.5608C>G (p.Pro1870Ala) c.5788C>G (p.Pro1930Ala) c.5722C>G (p.Pro1908Ala) c.5785C>G (p.Pro1929Ala) c.5782C>G (p.Pro1928Ala) c.5728C>G (p.Pro1910Ala) c.5653C>G (p.Pro1885Ala) c.5248C>G (p.Pro1750Ala) c.4606C>G (p.Pro1536Ala) c.2116C>G (p.Pro706Ala) n.6031C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784981C>T | CA377146701 | CDH23 | c.5593C>T (p.Pro1865Ser) c.5608C>T (p.Pro1870Ser) c.5788C>T (p.Pro1930Ser) c.5722C>T (p.Pro1908Ser) c.5785C>T (p.Pro1929Ser) c.5782C>T (p.Pro1928Ser) c.5728C>T (p.Pro1910Ser) c.5653C>T (p.Pro1885Ser) c.5248C>T (p.Pro1750Ser) c.4606C>T (p.Pro1536Ser) c.2116C>T (p.Pro706Ser) n.6031C>T | |
10 | g.71784982C>A | CA377146704 | CDH23 | c.5594C>A (p.Pro1865His) c.5609C>A (p.Pro1870His) c.5789C>A (p.Pro1930His) c.5723C>A (p.Pro1908His) c.5786C>A (p.Pro1929His) c.5783C>A (p.Pro1928His) c.5729C>A (p.Pro1910His) c.5654C>A (p.Pro1885His) c.5249C>A (p.Pro1750His) c.4607C>A (p.Pro1536His) c.2117C>A (p.Pro706His) n.6032C>A | |
10 | g.71784982C= | CA1918862303 | CDH23 | c.5594C= (p.Pro1865=) c.5609C= (p.Pro1870=) c.5789C= (p.Pro1930=) c.5723C= (p.Pro1908=) c.5786C= (p.Pro1929=) c.5783C= (p.Pro1928=) c.5729C= (p.Pro1910=) c.5654C= (p.Pro1885=) c.5249C= (p.Pro1750=) c.4607C= (p.Pro1536=) c.2117C= (p.Pro706=) n.6032C= | |
10 | g.71784982C>G | CA377146705 | CDH23 | c.5594C>G (p.Pro1865Arg) c.5609C>G (p.Pro1870Arg) c.5789C>G (p.Pro1930Arg) c.5723C>G (p.Pro1908Arg) c.5786C>G (p.Pro1929Arg) c.5783C>G (p.Pro1928Arg) c.5729C>G (p.Pro1910Arg) c.5654C>G (p.Pro1885Arg) c.5249C>G (p.Pro1750Arg) c.4607C>G (p.Pro1536Arg) c.2117C>G (p.Pro706Arg) n.6032C>G | |
10 | g.71784982C>T | CA377146706 | CDH23 | c.5594C>T (p.Pro1865Leu) c.5609C>T (p.Pro1870Leu) c.5789C>T (p.Pro1930Leu) c.5723C>T (p.Pro1908Leu) c.5786C>T (p.Pro1929Leu) c.5783C>T (p.Pro1928Leu) c.5729C>T (p.Pro1910Leu) c.5654C>T (p.Pro1885Leu) c.5249C>T (p.Pro1750Leu) c.4607C>T (p.Pro1536Leu) c.2117C>T (p.Pro706Leu) n.6032C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784982_71784983del | CA912970381 | CDH23 | c.5594_5595del (p.Pro1865ArgfsTer12) c.5609_5610del (p.Pro1870ArgfsTer12) c.5789_5790del (p.Pro1930ArgfsTer12) c.5723_5724del (p.Pro1908ArgfsTer12) c.5786_5787del (p.Pro1929ArgfsTer12) c.5783_5784del (p.Pro1928ArgfsTer12) c.5729_5730del (p.Pro1910ArgfsTer12) c.5654_5655del (p.Pro1885ArgfsTer12) c.5249_5250del (p.Pro1750ArgfsTer12) c.4607_4608del (p.Pro1536ArgfsTer12) c.2117_2118del (p.Pro706ArgfsTer12) n.6032_6033del | |
10 | g.71784983T>A | CA470060736 | CDH23 | c.5595T>A (p.Pro1865=) c.5610T>A (p.Pro1870=) c.5790T>A (p.Pro1930=) c.5724T>A (p.Pro1908=) c.5787T>A (p.Pro1929=) c.5784T>A (p.Pro1928=) c.5730T>A (p.Pro1910=) c.5655T>A (p.Pro1885=) c.5250T>A (p.Pro1750=) c.4608T>A (p.Pro1536=) c.2118T>A (p.Pro706=) n.6033T>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784983T>C | CA470060737 | CDH23 | c.5595T>C (p.Pro1865=) c.5610T>C (p.Pro1870=) c.5790T>C (p.Pro1930=) c.5724T>C (p.Pro1908=) c.5787T>C (p.Pro1929=) c.5784T>C (p.Pro1928=) c.5730T>C (p.Pro1910=) c.5655T>C (p.Pro1885=) c.5250T>C (p.Pro1750=) c.4608T>C (p.Pro1536=) c.2118T>C (p.Pro706=) n.6033T>C | ClinVar dbSNP |
10 | g.71784983T>G | CA470060738 | CDH23 | c.5595T>G (p.Pro1865=) c.5610T>G (p.Pro1870=) c.5790T>G (p.Pro1930=) c.5724T>G (p.Pro1908=) c.5787T>G (p.Pro1929=) c.5784T>G (p.Pro1928=) c.5730T>G (p.Pro1910=) c.5655T>G (p.Pro1885=) c.5250T>G (p.Pro1750=) c.4608T>G (p.Pro1536=) c.2118T>G (p.Pro706=) n.6033T>G | |
10 | g.71784983T= | CA1918862305 | CDH23 | c.5595T= (p.Pro1865=) c.5610T= (p.Pro1870=) c.5790T= (p.Pro1930=) c.5724T= (p.Pro1908=) c.5787T= (p.Pro1929=) c.5784T= (p.Pro1928=) c.5730T= (p.Pro1910=) c.5655T= (p.Pro1885=) c.5250T= (p.Pro1750=) c.4608T= (p.Pro1536=) c.2118T= (p.Pro706=) n.6033T= | |
10 | g.71784984G>A | CA377146708 | CDH23 | c.5596G>A (p.Val1866Ile) c.5611G>A (p.Val1871Ile) c.5791G>A (p.Val1931Ile) c.5725G>A (p.Val1909Ile) c.5788G>A (p.Val1930Ile) c.5785G>A (p.Val1929Ile) c.5731G>A (p.Val1911Ile) c.5656G>A (p.Val1886Ile) c.5251G>A (p.Val1751Ile) c.4609G>A (p.Val1537Ile) c.2119G>A (p.Val707Ile) n.6034G>A | dbSNP |
10 | g.71784984G>C | CA377146709 | CDH23 | c.5596G>C (p.Val1866Leu) c.5611G>C (p.Val1871Leu) c.5791G>C (p.Val1931Leu) c.5725G>C (p.Val1909Leu) c.5788G>C (p.Val1930Leu) c.5785G>C (p.Val1929Leu) c.5731G>C (p.Val1911Leu) c.5656G>C (p.Val1886Leu) c.5251G>C (p.Val1751Leu) c.4609G>C (p.Val1537Leu) c.2119G>C (p.Val707Leu) n.6034G>C | gnomAD v4 |
10 | g.71784984G>T | CA377146711 | CDH23 | c.5596G>T (p.Val1866Phe) c.5611G>T (p.Val1871Phe) c.5791G>T (p.Val1931Phe) c.5725G>T (p.Val1909Phe) c.5788G>T (p.Val1930Phe) c.5785G>T (p.Val1929Phe) c.5731G>T (p.Val1911Phe) c.5656G>T (p.Val1886Phe) c.5251G>T (p.Val1751Phe) c.4609G>T (p.Val1537Phe) c.2119G>T (p.Val707Phe) n.6034G>T | |
10 | g.71784985T>A | CA377146713 | CDH23 | c.5597T>A (p.Val1866Asp) c.5612T>A (p.Val1871Asp) c.5792T>A (p.Val1931Asp) c.5726T>A (p.Val1909Asp) c.5789T>A (p.Val1930Asp) c.5786T>A (p.Val1929Asp) c.5732T>A (p.Val1911Asp) c.5657T>A (p.Val1886Asp) c.5252T>A (p.Val1751Asp) c.4610T>A (p.Val1537Asp) c.2120T>A (p.Val707Asp) n.6035T>A | |
10 | g.71784985T>C | CA377146714 | CDH23 | c.5597T>C (p.Val1866Ala) c.5612T>C (p.Val1871Ala) c.5792T>C (p.Val1931Ala) c.5726T>C (p.Val1909Ala) c.5789T>C (p.Val1930Ala) c.5786T>C (p.Val1929Ala) c.5732T>C (p.Val1911Ala) c.5657T>C (p.Val1886Ala) c.5252T>C (p.Val1751Ala) c.4610T>C (p.Val1537Ala) c.2120T>C (p.Val707Ala) n.6035T>C | |
10 | g.71784985T>G | CA377146716 | CDH23 | c.5597T>G (p.Val1866Gly) c.5612T>G (p.Val1871Gly) c.5792T>G (p.Val1931Gly) c.5726T>G (p.Val1909Gly) c.5789T>G (p.Val1930Gly) c.5786T>G (p.Val1929Gly) c.5732T>G (p.Val1911Gly) c.5657T>G (p.Val1886Gly) c.5252T>G (p.Val1751Gly) c.4610T>G (p.Val1537Gly) c.2120T>G (p.Val707Gly) n.6035T>G | |
10 | g.71784986C>A | CA470060739 | CDH23 | c.5598C>A (p.Val1866=) c.5613C>A (p.Val1871=) c.5793C>A (p.Val1931=) c.5727C>A (p.Val1909=) c.5790C>A (p.Val1930=) c.5787C>A (p.Val1929=) c.5733C>A (p.Val1911=) c.5658C>A (p.Val1886=) c.5253C>A (p.Val1751=) c.4611C>A (p.Val1537=) c.2121C>A (p.Val707=) n.6036C>A | dbSNP |
10 | g.71784986C>G | CA470060740 | CDH23 | c.5598C>G (p.Val1866=) c.5613C>G (p.Val1871=) c.5793C>G (p.Val1931=) c.5727C>G (p.Val1909=) c.5790C>G (p.Val1930=) c.5787C>G (p.Val1929=) c.5733C>G (p.Val1911=) c.5658C>G (p.Val1886=) c.5253C>G (p.Val1751=) c.4611C>G (p.Val1537=) c.2121C>G (p.Val707=) n.6036C>G | |
10 | g.71784986C>T | CA470060741 | CDH23 | c.5598C>T (p.Val1866=) c.5613C>T (p.Val1871=) c.5793C>T (p.Val1931=) c.5727C>T (p.Val1909=) c.5790C>T (p.Val1930=) c.5787C>T (p.Val1929=) c.5733C>T (p.Val1911=) c.5658C>T (p.Val1886=) c.5253C>T (p.Val1751=) c.4611C>T (p.Val1537=) c.2121C>T (p.Val707=) n.6036C>T | gnomAD v4 |
10 | g.71784987T>A | CA377146717 | CDH23 | c.5599T>A (p.Ser1867Thr) c.5614T>A (p.Ser1872Thr) c.5794T>A (p.Ser1932Thr) c.5728T>A (p.Ser1910Thr) c.5791T>A (p.Ser1931Thr) c.5788T>A (p.Ser1930Thr) c.5734T>A (p.Ser1912Thr) c.5659T>A (p.Ser1887Thr) c.5254T>A (p.Ser1752Thr) c.4612T>A (p.Ser1538Thr) c.2122T>A (p.Ser708Thr) n.6037T>A | |
10 | g.71784987T>C | CA377146718 | CDH23 | c.5599T>C (p.Ser1867Pro) c.5614T>C (p.Ser1872Pro) c.5794T>C (p.Ser1932Pro) c.5728T>C (p.Ser1910Pro) c.5791T>C (p.Ser1931Pro) c.5788T>C (p.Ser1930Pro) c.5734T>C (p.Ser1912Pro) c.5659T>C (p.Ser1887Pro) c.5254T>C (p.Ser1752Pro) c.4612T>C (p.Ser1538Pro) c.2122T>C (p.Ser708Pro) n.6037T>C | |
10 | g.71784987T>G | CA377146720 | CDH23 | c.5599T>G (p.Ser1867Ala) c.5614T>G (p.Ser1872Ala) c.5794T>G (p.Ser1932Ala) c.5728T>G (p.Ser1910Ala) c.5791T>G (p.Ser1931Ala) c.5788T>G (p.Ser1930Ala) c.5734T>G (p.Ser1912Ala) c.5659T>G (p.Ser1887Ala) c.5254T>G (p.Ser1752Ala) c.4612T>G (p.Ser1538Ala) c.2122T>G (p.Ser708Ala) n.6037T>G | |
10 | g.71784988C>A | CA377146725 | CDH23 | c.5600C>A (p.Ser1867Tyr) c.5615C>A (p.Ser1872Tyr) c.5795C>A (p.Ser1932Tyr) c.5729C>A (p.Ser1910Tyr) c.5792C>A (p.Ser1931Tyr) c.5789C>A (p.Ser1930Tyr) c.5735C>A (p.Ser1912Tyr) c.5660C>A (p.Ser1887Tyr) c.5255C>A (p.Ser1752Tyr) c.4613C>A (p.Ser1538Tyr) c.2123C>A (p.Ser708Tyr) n.6038C>A | gnomAD v4 |
10 | g.71784988C>G | CA377146722 | CDH23 | c.5600C>G (p.Ser1867Cys) c.5615C>G (p.Ser1872Cys) c.5795C>G (p.Ser1932Cys) c.5729C>G (p.Ser1910Cys) c.5792C>G (p.Ser1931Cys) c.5789C>G (p.Ser1930Cys) c.5735C>G (p.Ser1912Cys) c.5660C>G (p.Ser1887Cys) c.5255C>G (p.Ser1752Cys) c.4613C>G (p.Ser1538Cys) c.2123C>G (p.Ser708Cys) n.6038C>G | |
10 | g.71784988C>T | CA377146724 | CDH23 | c.5600C>T (p.Ser1867Phe) c.5615C>T (p.Ser1872Phe) c.5795C>T (p.Ser1932Phe) c.5729C>T (p.Ser1910Phe) c.5792C>T (p.Ser1931Phe) c.5789C>T (p.Ser1930Phe) c.5735C>T (p.Ser1912Phe) c.5660C>T (p.Ser1887Phe) c.5255C>T (p.Ser1752Phe) c.4613C>T (p.Ser1538Phe) c.2123C>T (p.Ser708Phe) n.6038C>T | |
10 | g.71784989C>A | CA470060742 | CDH23 | c.5601C>A (p.Ser1867=) c.5616C>A (p.Ser1872=) c.5796C>A (p.Ser1932=) c.5730C>A (p.Ser1910=) c.5793C>A (p.Ser1931=) c.5790C>A (p.Ser1930=) c.5736C>A (p.Ser1912=) c.5661C>A (p.Ser1887=) c.5256C>A (p.Ser1752=) c.4614C>A (p.Ser1538=) c.2124C>A (p.Ser708=) n.6039C>A | |
10 | g.71784989C>G | CA470060743 | CDH23 | c.5601C>G (p.Ser1867=) c.5616C>G (p.Ser1872=) c.5796C>G (p.Ser1932=) c.5730C>G (p.Ser1910=) c.5793C>G (p.Ser1931=) c.5790C>G (p.Ser1930=) c.5736C>G (p.Ser1912=) c.5661C>G (p.Ser1887=) c.5256C>G (p.Ser1752=) c.4614C>G (p.Ser1538=) c.2124C>G (p.Ser708=) n.6039C>G | |
10 | g.71784989C>T | CA470060744 | CDH23 | c.5601C>T (p.Ser1867=) c.5616C>T (p.Ser1872=) c.5796C>T (p.Ser1932=) c.5730C>T (p.Ser1910=) c.5793C>T (p.Ser1931=) c.5790C>T (p.Ser1930=) c.5736C>T (p.Ser1912=) c.5661C>T (p.Ser1887=) c.5256C>T (p.Ser1752=) c.4614C>T (p.Ser1538=) c.2124C>T (p.Ser708=) n.6039C>T | |
10 | g.71784990A>C | CA377146726 | CDH23 | c.5602A>C (p.Ser1868Arg) c.5617A>C (p.Ser1873Arg) c.5797A>C (p.Ser1933Arg) c.5731A>C (p.Ser1911Arg) c.5794A>C (p.Ser1932Arg) c.5791A>C (p.Ser1931Arg) c.5737A>C (p.Ser1913Arg) c.5662A>C (p.Ser1888Arg) c.5257A>C (p.Ser1753Arg) c.4615A>C (p.Ser1539Arg) c.2125A>C (p.Ser709Arg) n.6040A>C | |
10 | g.71784990A>G | CA377146727 | CDH23 | c.5602A>G (p.Ser1868Gly) c.5617A>G (p.Ser1873Gly) c.5797A>G (p.Ser1933Gly) c.5731A>G (p.Ser1911Gly) c.5794A>G (p.Ser1932Gly) c.5791A>G (p.Ser1931Gly) c.5737A>G (p.Ser1913Gly) c.5662A>G (p.Ser1888Gly) c.5257A>G (p.Ser1753Gly) c.4615A>G (p.Ser1539Gly) c.2125A>G (p.Ser709Gly) n.6040A>G | |
10 | g.71784990A>T | CA377146728 | CDH23 | c.5602A>T (p.Ser1868Cys) c.5617A>T (p.Ser1873Cys) c.5797A>T (p.Ser1933Cys) c.5731A>T (p.Ser1911Cys) c.5794A>T (p.Ser1932Cys) c.5791A>T (p.Ser1931Cys) c.5737A>T (p.Ser1913Cys) c.5662A>T (p.Ser1888Cys) c.5257A>T (p.Ser1753Cys) c.4615A>T (p.Ser1539Cys) c.2125A>T (p.Ser709Cys) n.6040A>T | |
10 | g.71784991G>A | CA377146730 | CDH23 | c.5603G>A (p.Ser1868Asn) c.5618G>A (p.Ser1873Asn) c.5798G>A (p.Ser1933Asn) c.5732G>A (p.Ser1911Asn) c.5795G>A (p.Ser1932Asn) c.5792G>A (p.Ser1931Asn) c.5738G>A (p.Ser1913Asn) c.5663G>A (p.Ser1888Asn) c.5258G>A (p.Ser1753Asn) c.4616G>A (p.Ser1539Asn) c.2126G>A (p.Ser709Asn) n.6041G>A | |
10 | g.71784991G>C | CA377146732 | CDH23 | c.5603G>C (p.Ser1868Thr) c.5618G>C (p.Ser1873Thr) c.5798G>C (p.Ser1933Thr) c.5732G>C (p.Ser1911Thr) c.5795G>C (p.Ser1932Thr) c.5792G>C (p.Ser1931Thr) c.5738G>C (p.Ser1913Thr) c.5663G>C (p.Ser1888Thr) c.5258G>C (p.Ser1753Thr) c.4616G>C (p.Ser1539Thr) c.2126G>C (p.Ser709Thr) n.6041G>C | |
10 | g.71784991G>T | CA377146733 | CDH23 | c.5603G>T (p.Ser1868Ile) c.5618G>T (p.Ser1873Ile) c.5798G>T (p.Ser1933Ile) c.5732G>T (p.Ser1911Ile) c.5795G>T (p.Ser1932Ile) c.5792G>T (p.Ser1931Ile) c.5738G>T (p.Ser1913Ile) c.5663G>T (p.Ser1888Ile) c.5258G>T (p.Ser1753Ile) c.4616G>T (p.Ser1539Ile) c.2126G>T (p.Ser709Ile) n.6041G>T | |
10 | g.71784992C>A | CA377146735 | CDH23 | c.5604C>A (p.Ser1868Arg) c.5619C>A (p.Ser1873Arg) c.5799C>A (p.Ser1933Arg) c.5733C>A (p.Ser1911Arg) c.5796C>A (p.Ser1932Arg) c.5793C>A (p.Ser1931Arg) c.5739C>A (p.Ser1913Arg) c.5664C>A (p.Ser1888Arg) c.5259C>A (p.Ser1753Arg) c.4617C>A (p.Ser1539Arg) c.2127C>A (p.Ser709Arg) n.6042C>A | gnomAD v4 |
10 | g.71784992C= | CA1918862309 | CDH23 | c.5604C= (p.Ser1868=) c.5619C= (p.Ser1873=) c.5799C= (p.Ser1933=) c.5733C= (p.Ser1911=) c.5796C= (p.Ser1932=) c.5793C= (p.Ser1931=) c.5739C= (p.Ser1913=) c.5664C= (p.Ser1888=) c.5259C= (p.Ser1753=) c.4617C= (p.Ser1539=) c.2127C= (p.Ser709=) n.6042C= | |
10 | g.71784992C>G | CA377146737 | CDH23 | c.5604C>G (p.Ser1868Arg) c.5619C>G (p.Ser1873Arg) c.5799C>G (p.Ser1933Arg) c.5733C>G (p.Ser1911Arg) c.5796C>G (p.Ser1932Arg) c.5793C>G (p.Ser1931Arg) c.5739C>G (p.Ser1913Arg) c.5664C>G (p.Ser1888Arg) c.5259C>G (p.Ser1753Arg) c.4617C>G (p.Ser1539Arg) c.2127C>G (p.Ser709Arg) n.6042C>G | |
10 | g.71784992C>T | CA470060745 | CDH23 | c.5604C>T (p.Ser1868=) c.5619C>T (p.Ser1873=) c.5799C>T (p.Ser1933=) c.5733C>T (p.Ser1911=) c.5796C>T (p.Ser1932=) c.5793C>T (p.Ser1931=) c.5739C>T (p.Ser1913=) c.5664C>T (p.Ser1888=) c.5259C>T (p.Ser1753=) c.4617C>T (p.Ser1539=) c.2127C>T (p.Ser709=) n.6042C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71784993T>A | CA377146738 | CDH23 | c.5605T>A (p.Phe1869Ile) c.5620T>A (p.Phe1874Ile) c.5800T>A (p.Phe1934Ile) c.5734T>A (p.Phe1912Ile) c.5797T>A (p.Phe1933Ile) c.5794T>A (p.Phe1932Ile) c.5740T>A (p.Phe1914Ile) c.5665T>A (p.Phe1889Ile) c.5260T>A (p.Phe1754Ile) c.4618T>A (p.Phe1540Ile) c.2128T>A (p.Phe710Ile) n.6043T>A | |
10 | g.71784993T>C | CA377146739 | CDH23 | c.5605T>C (p.Phe1869Leu) c.5620T>C (p.Phe1874Leu) c.5800T>C (p.Phe1934Leu) c.5734T>C (p.Phe1912Leu) c.5797T>C (p.Phe1933Leu) c.5794T>C (p.Phe1932Leu) c.5740T>C (p.Phe1914Leu) c.5665T>C (p.Phe1889Leu) c.5260T>C (p.Phe1754Leu) c.4618T>C (p.Phe1540Leu) c.2128T>C (p.Phe710Leu) n.6043T>C | |
10 | g.71784993T>G | CA377146741 | CDH23 | c.5605T>G (p.Phe1869Val) c.5620T>G (p.Phe1874Val) c.5800T>G (p.Phe1934Val) c.5734T>G (p.Phe1912Val) c.5797T>G (p.Phe1933Val) c.5794T>G (p.Phe1932Val) c.5740T>G (p.Phe1914Val) c.5665T>G (p.Phe1889Val) c.5260T>G (p.Phe1754Val) c.4618T>G (p.Phe1540Val) c.2128T>G (p.Phe710Val) n.6043T>G | |
10 | g.71784994T>A | CA377146744 | CDH23 | c.5606T>A (p.Phe1869Tyr) c.5621T>A (p.Phe1874Tyr) c.5801T>A (p.Phe1934Tyr) c.5735T>A (p.Phe1912Tyr) c.5798T>A (p.Phe1933Tyr) c.5795T>A (p.Phe1932Tyr) c.5741T>A (p.Phe1914Tyr) c.5666T>A (p.Phe1889Tyr) c.5261T>A (p.Phe1754Tyr) c.4619T>A (p.Phe1540Tyr) c.2129T>A (p.Phe710Tyr) n.6044T>A | |
10 | g.71784994T>C | CA377146745 | CDH23 | c.5606T>C (p.Phe1869Ser) c.5621T>C (p.Phe1874Ser) c.5801T>C (p.Phe1934Ser) c.5735T>C (p.Phe1912Ser) c.5798T>C (p.Phe1933Ser) c.5795T>C (p.Phe1932Ser) c.5741T>C (p.Phe1914Ser) c.5666T>C (p.Phe1889Ser) c.5261T>C (p.Phe1754Ser) c.4619T>C (p.Phe1540Ser) c.2129T>C (p.Phe710Ser) n.6044T>C | |
10 | g.71784994T>G | CA377146743 | CDH23 | c.5606T>G (p.Phe1869Cys) c.5621T>G (p.Phe1874Cys) c.5801T>G (p.Phe1934Cys) c.5735T>G (p.Phe1912Cys) c.5798T>G (p.Phe1933Cys) c.5795T>G (p.Phe1932Cys) c.5741T>G (p.Phe1914Cys) c.5666T>G (p.Phe1889Cys) c.5261T>G (p.Phe1754Cys) c.4619T>G (p.Phe1540Cys) c.2129T>G (p.Phe710Cys) n.6044T>G | |
10 | g.71784995T>A | CA377146747 | CDH23 | c.5607T>A (p.Phe1869Leu) c.5622T>A (p.Phe1874Leu) c.5802T>A (p.Phe1934Leu) c.5736T>A (p.Phe1912Leu) c.5799T>A (p.Phe1933Leu) c.5796T>A (p.Phe1932Leu) c.5742T>A (p.Phe1914Leu) c.5667T>A (p.Phe1889Leu) c.5262T>A (p.Phe1754Leu) c.4620T>A (p.Phe1540Leu) c.2130T>A (p.Phe710Leu) n.6045T>A | |
10 | g.71784995T>C | CA470060746 | CDH23 | c.5607T>C (p.Phe1869=) c.5622T>C (p.Phe1874=) c.5802T>C (p.Phe1934=) c.5736T>C (p.Phe1912=) c.5799T>C (p.Phe1933=) c.5796T>C (p.Phe1932=) c.5742T>C (p.Phe1914=) c.5667T>C (p.Phe1889=) c.5262T>C (p.Phe1754=) c.4620T>C (p.Phe1540=) c.2130T>C (p.Phe710=) n.6045T>C | |
10 | g.71784995T>G | CA377146749 | CDH23 | c.5607T>G (p.Phe1869Leu) c.5622T>G (p.Phe1874Leu) c.5802T>G (p.Phe1934Leu) c.5736T>G (p.Phe1912Leu) c.5799T>G (p.Phe1933Leu) c.5796T>G (p.Phe1932Leu) c.5742T>G (p.Phe1914Leu) c.5667T>G (p.Phe1889Leu) c.5262T>G (p.Phe1754Leu) c.4620T>G (p.Phe1540Leu) c.2130T>G (p.Phe710Leu) n.6045T>G | |
10 | g.71784996G>A | CA377146750 | CDH23 | c.5608G>A (p.Val1870Ile) c.5623G>A (p.Val1875Ile) c.5803G>A (p.Val1935Ile) c.5737G>A (p.Val1913Ile) c.5800G>A (p.Val1934Ile) c.5797G>A (p.Val1933Ile) c.5743G>A (p.Val1915Ile) c.5668G>A (p.Val1890Ile) c.5263G>A (p.Val1755Ile) c.4621G>A (p.Val1541Ile) c.2131G>A (p.Val711Ile) n.6046G>A | dbSNP |
10 | g.71784996G>C | CA377146752 | CDH23 | c.5608G>C (p.Val1870Leu) c.5623G>C (p.Val1875Leu) c.5803G>C (p.Val1935Leu) c.5737G>C (p.Val1913Leu) c.5800G>C (p.Val1934Leu) c.5797G>C (p.Val1933Leu) c.5743G>C (p.Val1915Leu) c.5668G>C (p.Val1890Leu) c.5263G>C (p.Val1755Leu) c.4621G>C (p.Val1541Leu) c.2131G>C (p.Val711Leu) n.6046G>C | dbSNP |
10 | g.71784996G= | CA1918862315 | CDH23 | c.5608G= (p.Val1870=) c.5623G= (p.Val1875=) c.5803G= (p.Val1935=) c.5737G= (p.Val1913=) c.5800G= (p.Val1934=) c.5797G= (p.Val1933=) c.5743G= (p.Val1915=) c.5668G= (p.Val1890=) c.5263G= (p.Val1755=) c.4621G= (p.Val1541=) c.2131G= (p.Val711=) n.6046G= | |
10 | g.71784996G>T | CA377146753 | CDH23 | c.5608G>T (p.Val1870Phe) c.5623G>T (p.Val1875Phe) c.5803G>T (p.Val1935Phe) c.5737G>T (p.Val1913Phe) c.5800G>T (p.Val1934Phe) c.5797G>T (p.Val1933Phe) c.5743G>T (p.Val1915Phe) c.5668G>T (p.Val1890Phe) c.5263G>T (p.Val1755Phe) c.4621G>T (p.Val1541Phe) c.2131G>T (p.Val711Phe) n.6046G>T | |
10 | g.71784997T>A | CA377146755 | CDH23 | c.5609T>A (p.Val1870Asp) c.5624T>A (p.Val1875Asp) c.5804T>A (p.Val1935Asp) c.5738T>A (p.Val1913Asp) c.5801T>A (p.Val1934Asp) c.5798T>A (p.Val1933Asp) c.5744T>A (p.Val1915Asp) c.5669T>A (p.Val1890Asp) c.5264T>A (p.Val1755Asp) c.4622T>A (p.Val1541Asp) c.2132T>A (p.Val711Asp) n.6047T>A | |
10 | g.71784997T>C | CA377146756 | CDH23 | c.5609T>C (p.Val1870Ala) c.5624T>C (p.Val1875Ala) c.5804T>C (p.Val1935Ala) c.5738T>C (p.Val1913Ala) c.5801T>C (p.Val1934Ala) c.5798T>C (p.Val1933Ala) c.5744T>C (p.Val1915Ala) c.5669T>C (p.Val1890Ala) c.5264T>C (p.Val1755Ala) c.4622T>C (p.Val1541Ala) c.2132T>C (p.Val711Ala) n.6047T>C | gnomAD v4 |
10 | g.71784997T>G | CA377146757 | CDH23 | c.5609T>G (p.Val1870Gly) c.5624T>G (p.Val1875Gly) c.5804T>G (p.Val1935Gly) c.5738T>G (p.Val1913Gly) c.5801T>G (p.Val1934Gly) c.5798T>G (p.Val1933Gly) c.5744T>G (p.Val1915Gly) c.5669T>G (p.Val1890Gly) c.5264T>G (p.Val1755Gly) c.4622T>G (p.Val1541Gly) c.2132T>G (p.Val711Gly) n.6047T>G | |
10 | g.71784998C>A | CA470060747 | CDH23 | c.5610C>A (p.Val1870=) c.5625C>A (p.Val1875=) c.5805C>A (p.Val1935=) c.5739C>A (p.Val1913=) c.5802C>A (p.Val1934=) c.5799C>A (p.Val1933=) c.5745C>A (p.Val1915=) c.5670C>A (p.Val1890=) c.5265C>A (p.Val1755=) c.4623C>A (p.Val1541=) c.2133C>A (p.Val711=) n.6048C>A | ClinVar gnomAD v4 |
10 | g.71784998C= | CA1918862320 | CDH23 | c.5610C= (p.Val1870=) c.5625C= (p.Val1875=) c.5805C= (p.Val1935=) c.5739C= (p.Val1913=) c.5802C= (p.Val1934=) c.5799C= (p.Val1933=) c.5745C= (p.Val1915=) c.5670C= (p.Val1890=) c.5265C= (p.Val1755=) c.4623C= (p.Val1541=) c.2133C= (p.Val711=) n.6048C= | |
10 | g.71784998C>G | CA470060748 | CDH23 | c.5610C>G (p.Val1870=) c.5625C>G (p.Val1875=) c.5805C>G (p.Val1935=) c.5739C>G (p.Val1913=) c.5802C>G (p.Val1934=) c.5799C>G (p.Val1933=) c.5745C>G (p.Val1915=) c.5670C>G (p.Val1890=) c.5265C>G (p.Val1755=) c.4623C>G (p.Val1541=) c.2133C>G (p.Val711=) n.6048C>G | ClinVar |
10 | g.71784998C>T | CA5545814 | CDH23 | c.5610C>T (p.Val1870=) c.5625C>T (p.Val1875=) c.5805C>T (p.Val1935=) c.5739C>T (p.Val1913=) c.5802C>T (p.Val1934=) c.5799C>T (p.Val1933=) c.5745C>T (p.Val1915=) c.5670C>T (p.Val1890=) c.5265C>T (p.Val1755=) c.4623C>T (p.Val1541=) c.2133C>T (p.Val711=) n.6048C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784999G>A | CA5545815 | CDH23 | c.5611G>A (p.Ala1871Thr) c.5626G>A (p.Ala1876Thr) c.5806G>A (p.Ala1936Thr) c.5740G>A (p.Ala1914Thr) c.5803G>A (p.Ala1935Thr) c.5800G>A (p.Ala1934Thr) c.5746G>A (p.Ala1916Thr) c.5671G>A (p.Ala1891Thr) c.5266G>A (p.Ala1756Thr) c.4624G>A (p.Ala1542Thr) c.2134G>A (p.Ala712Thr) n.6049G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71784999G>C | CA377146759 | CDH23 | c.5611G>C (p.Ala1871Pro) c.5626G>C (p.Ala1876Pro) c.5806G>C (p.Ala1936Pro) c.5740G>C (p.Ala1914Pro) c.5803G>C (p.Ala1935Pro) c.5800G>C (p.Ala1934Pro) c.5746G>C (p.Ala1916Pro) c.5671G>C (p.Ala1891Pro) c.5266G>C (p.Ala1756Pro) c.4624G>C (p.Ala1542Pro) c.2134G>C (p.Ala712Pro) n.6049G>C | |
10 | g.71784999G= | CA1918862325 | CDH23 | c.5611G= (p.Ala1871=) c.5626G= (p.Ala1876=) c.5806G= (p.Ala1936=) c.5740G= (p.Ala1914=) c.5803G= (p.Ala1935=) c.5800G= (p.Ala1934=) c.5746G= (p.Ala1916=) c.5671G= (p.Ala1891=) c.5266G= (p.Ala1756=) c.4624G= (p.Ala1542=) c.2134G= (p.Ala712=) n.6049G= | |
10 | g.71784999G>T | CA377146760 | CDH23 | c.5611G>T (p.Ala1871Ser) c.5626G>T (p.Ala1876Ser) c.5806G>T (p.Ala1936Ser) c.5740G>T (p.Ala1914Ser) c.5803G>T (p.Ala1935Ser) c.5800G>T (p.Ala1934Ser) c.5746G>T (p.Ala1916Ser) c.5671G>T (p.Ala1891Ser) c.5266G>T (p.Ala1756Ser) c.4624G>T (p.Ala1542Ser) c.2134G>T (p.Ala712Ser) n.6049G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71785000C>A | CA377146763 | CDH23 | c.5612C>A (p.Ala1871Asp) c.5627C>A (p.Ala1876Asp) c.5807C>A (p.Ala1936Asp) c.5741C>A (p.Ala1914Asp) c.5804C>A (p.Ala1935Asp) c.5801C>A (p.Ala1934Asp) c.5747C>A (p.Ala1916Asp) c.5672C>A (p.Ala1891Asp) c.5267C>A (p.Ala1756Asp) c.4625C>A (p.Ala1542Asp) c.2135C>A (p.Ala712Asp) n.6050C>A | |
10 | g.71785000C>G | CA377146764 | CDH23 | c.5612C>G (p.Ala1871Gly) c.5627C>G (p.Ala1876Gly) c.5807C>G (p.Ala1936Gly) c.5741C>G (p.Ala1914Gly) c.5804C>G (p.Ala1935Gly) c.5801C>G (p.Ala1934Gly) c.5747C>G (p.Ala1916Gly) c.5672C>G (p.Ala1891Gly) c.5267C>G (p.Ala1756Gly) c.4625C>G (p.Ala1542Gly) c.2135C>G (p.Ala712Gly) n.6050C>G | |
10 | g.71785000C>T | CA377146762 | CDH23 | c.5612C>T (p.Ala1871Val) c.5627C>T (p.Ala1876Val) c.5807C>T (p.Ala1936Val) c.5741C>T (p.Ala1914Val) c.5804C>T (p.Ala1935Val) c.5801C>T (p.Ala1934Val) c.5747C>T (p.Ala1916Val) c.5672C>T (p.Ala1891Val) c.5267C>T (p.Ala1756Val) c.4625C>T (p.Ala1542Val) c.2135C>T (p.Ala712Val) n.6050C>T | gnomAD v4 |
10 | g.71785001C>A | CA470060749 | CDH23 | c.5613C>A (p.Ala1871=) c.5628C>A (p.Ala1876=) c.5808C>A (p.Ala1936=) c.5742C>A (p.Ala1914=) c.5805C>A (p.Ala1935=) c.5802C>A (p.Ala1934=) c.5748C>A (p.Ala1916=) c.5673C>A (p.Ala1891=) c.5268C>A (p.Ala1756=) c.4626C>A (p.Ala1542=) c.2136C>A (p.Ala712=) n.6051C>A | |
10 | g.71785001C>G | CA470060750 | CDH23 | c.5613C>G (p.Ala1871=) c.5628C>G (p.Ala1876=) c.5808C>G (p.Ala1936=) c.5742C>G (p.Ala1914=) c.5805C>G (p.Ala1935=) c.5802C>G (p.Ala1934=) c.5748C>G (p.Ala1916=) c.5673C>G (p.Ala1891=) c.5268C>G (p.Ala1756=) c.4626C>G (p.Ala1542=) c.2136C>G (p.Ala712=) n.6051C>G | |
10 | g.71785001C>T | CA470060751 | CDH23 | c.5613C>T (p.Ala1871=) c.5628C>T (p.Ala1876=) c.5808C>T (p.Ala1936=) c.5742C>T (p.Ala1914=) c.5805C>T (p.Ala1935=) c.5802C>T (p.Ala1934=) c.5748C>T (p.Ala1916=) c.5673C>T (p.Ala1891=) c.5268C>T (p.Ala1756=) c.4626C>T (p.Ala1542=) c.2136C>T (p.Ala712=) n.6051C>T | |
10 | g.71785002C>A | CA377146765 | CDH23 | c.5614C>A (p.His1872Asn) c.5629C>A (p.His1877Asn) c.5809C>A (p.His1937Asn) c.5743C>A (p.His1915Asn) c.5806C>A (p.His1936Asn) c.5803C>A (p.His1935Asn) c.5749C>A (p.His1917Asn) c.5674C>A (p.His1892Asn) c.5269C>A (p.His1757Asn) c.4627C>A (p.His1543Asn) c.2137C>A (p.His713Asn) n.6052C>A | |
10 | g.71785002C= | CA1918862333 | CDH23 | c.5614C= (p.His1872=) c.5629C= (p.His1877=) c.5809C= (p.His1937=) c.5743C= (p.His1915=) c.5806C= (p.His1936=) c.5803C= (p.His1935=) c.5749C= (p.His1917=) c.5674C= (p.His1892=) c.5269C= (p.His1757=) c.4627C= (p.His1543=) c.2137C= (p.His713=) n.6052C= | |
10 | g.71785002C>G | CA377146767 | CDH23 | c.5614C>G (p.His1872Asp) c.5629C>G (p.His1877Asp) c.5809C>G (p.His1937Asp) c.5743C>G (p.His1915Asp) c.5806C>G (p.His1936Asp) c.5803C>G (p.His1935Asp) c.5749C>G (p.His1917Asp) c.5674C>G (p.His1892Asp) c.5269C>G (p.His1757Asp) c.4627C>G (p.His1543Asp) c.2137C>G (p.His713Asp) n.6052C>G | |
10 | g.71785002C>T | CA5545816 | CDH23 | c.5614C>T (p.His1872Tyr) c.5629C>T (p.His1877Tyr) c.5809C>T (p.His1937Tyr) c.5743C>T (p.His1915Tyr) c.5806C>T (p.His1936Tyr) c.5803C>T (p.His1935Tyr) c.5749C>T (p.His1917Tyr) c.5674C>T (p.His1892Tyr) c.5269C>T (p.His1757Tyr) c.4627C>T (p.His1543Tyr) c.2137C>T (p.His713Tyr) n.6052C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71785003A= | CA1918862336 | CDH23 | c.5615A= (p.His1872=) c.5630A= (p.His1877=) c.5810A= (p.His1937=) c.5744A= (p.His1915=) c.5807A= (p.His1936=) c.5804A= (p.His1935=) c.5750A= (p.His1917=) c.5675A= (p.His1892=) c.5270A= (p.His1757=) c.4628A= (p.His1543=) c.2138A= (p.His713=) n.6053A= | |
10 | g.71785003A>C | CA377146769 | CDH23 | c.5615A>C (p.His1872Pro) c.5630A>C (p.His1877Pro) c.5810A>C (p.His1937Pro) c.5744A>C (p.His1915Pro) c.5807A>C (p.His1936Pro) c.5804A>C (p.His1935Pro) c.5750A>C (p.His1917Pro) c.5675A>C (p.His1892Pro) c.5270A>C (p.His1757Pro) c.4628A>C (p.His1543Pro) c.2138A>C (p.His713Pro) n.6053A>C | |
10 | g.71785003A>G | CA5545817 | CDH23 | c.5615A>G (p.His1872Arg) c.5630A>G (p.His1877Arg) c.5810A>G (p.His1937Arg) c.5744A>G (p.His1915Arg) c.5807A>G (p.His1936Arg) c.5804A>G (p.His1935Arg) c.5750A>G (p.His1917Arg) c.5675A>G (p.His1892Arg) c.5270A>G (p.His1757Arg) c.4628A>G (p.His1543Arg) c.2138A>G (p.His713Arg) n.6053A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71785003A>T | CA377146771 | CDH23 | c.5615A>T (p.His1872Leu) c.5630A>T (p.His1877Leu) c.5810A>T (p.His1937Leu) c.5744A>T (p.His1915Leu) c.5807A>T (p.His1936Leu) c.5804A>T (p.His1935Leu) c.5750A>T (p.His1917Leu) c.5675A>T (p.His1892Leu) c.5270A>T (p.His1757Leu) c.4628A>T (p.His1543Leu) c.2138A>T (p.His713Leu) n.6053A>T | |
10 | g.71785004T>A | CA377146775 | CDH23 | c.5616T>A (p.His1872Gln) c.5631T>A (p.His1877Gln) c.5811T>A (p.His1937Gln) c.5745T>A (p.His1915Gln) c.5808T>A (p.His1936Gln) c.5805T>A (p.His1935Gln) c.5751T>A (p.His1917Gln) c.5676T>A (p.His1892Gln) c.5271T>A (p.His1757Gln) c.4629T>A (p.His1543Gln) c.2139T>A (p.His713Gln) n.6054T>A | |
10 | g.71785004T>C | CA209457521 | CDH23 | c.5616T>C (p.His1872=) c.5631T>C (p.His1877=) c.5811T>C (p.His1937=) c.5745T>C (p.His1915=) c.5808T>C (p.His1936=) c.5805T>C (p.His1935=) c.5751T>C (p.His1917=) c.5676T>C (p.His1892=) c.5271T>C (p.His1757=) c.4629T>C (p.His1543=) c.2139T>C (p.His713=) n.6054T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71785004T>G | CA377146773 | CDH23 | c.5616T>G (p.His1872Gln) c.5631T>G (p.His1877Gln) c.5811T>G (p.His1937Gln) c.5745T>G (p.His1915Gln) c.5808T>G (p.His1936Gln) c.5805T>G (p.His1935Gln) c.5751T>G (p.His1917Gln) c.5676T>G (p.His1892Gln) c.5271T>G (p.His1757Gln) c.4629T>G (p.His1543Gln) c.2139T>G (p.His713Gln) n.6054T>G | gnomAD v4 |
10 | g.71785004T= | CA1918862341 | CDH23 | c.5616T= (p.His1872=) c.5631T= (p.His1877=) c.5811T= (p.His1937=) c.5745T= (p.His1915=) c.5808T= (p.His1936=) c.5805T= (p.His1935=) c.5751T= (p.His1917=) c.5676T= (p.His1892=) c.5271T= (p.His1757=) c.4629T= (p.His1543=) c.2139T= (p.His713=) n.6054T= | |
10 | g.71785005G>A | CA377146776 | CDH23 | c.5617G>A (p.Val1873Ile) c.5632G>A (p.Val1878Ile) c.5812G>A (p.Val1938Ile) c.5746G>A (p.Val1916Ile) c.5809G>A (p.Val1937Ile) c.5806G>A (p.Val1936Ile) c.5752G>A (p.Val1918Ile) c.5677G>A (p.Val1893Ile) c.5272G>A (p.Val1758Ile) c.4630G>A (p.Val1544Ile) c.2140G>A (p.Val714Ile) n.6055G>A | |
10 | g.71785005G>C | CA377146777 | CDH23 | c.5617G>C (p.Val1873Leu) c.5632G>C (p.Val1878Leu) c.5812G>C (p.Val1938Leu) c.5746G>C (p.Val1916Leu) c.5809G>C (p.Val1937Leu) c.5806G>C (p.Val1936Leu) c.5752G>C (p.Val1918Leu) c.5677G>C (p.Val1893Leu) c.5272G>C (p.Val1758Leu) c.4630G>C (p.Val1544Leu) c.2140G>C (p.Val714Leu) n.6055G>C | |
10 | g.71785005G>T | CA377146778 | CDH23 | c.5617G>T (p.Val1873Phe) c.5632G>T (p.Val1878Phe) c.5812G>T (p.Val1938Phe) c.5746G>T (p.Val1916Phe) c.5809G>T (p.Val1937Phe) c.5806G>T (p.Val1936Phe) c.5752G>T (p.Val1918Phe) c.5677G>T (p.Val1893Phe) c.5272G>T (p.Val1758Phe) c.4630G>T (p.Val1544Phe) c.2140G>T (p.Val714Phe) n.6055G>T | |
10 | g.71785006T>A | CA377146780 | CDH23 | c.5618T>A (p.Val1873Asp) c.5633T>A (p.Val1878Asp) c.5813T>A (p.Val1938Asp) c.5747T>A (p.Val1916Asp) c.5810T>A (p.Val1937Asp) c.5807T>A (p.Val1936Asp) c.5753T>A (p.Val1918Asp) c.5678T>A (p.Val1893Asp) c.5273T>A (p.Val1758Asp) c.4631T>A (p.Val1544Asp) c.2141T>A (p.Val714Asp) n.6056T>A | |
10 | g.71785006T>C | CA377146781 | CDH23 | c.5618T>C (p.Val1873Ala) c.5633T>C (p.Val1878Ala) c.5813T>C (p.Val1938Ala) c.5747T>C (p.Val1916Ala) c.5810T>C (p.Val1937Ala) c.5807T>C (p.Val1936Ala) c.5753T>C (p.Val1918Ala) c.5678T>C (p.Val1893Ala) c.5273T>C (p.Val1758Ala) c.4631T>C (p.Val1544Ala) c.2141T>C (p.Val714Ala) n.6056T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71785006T>G | CA377146783 | CDH23 | c.5618T>G (p.Val1873Gly) c.5633T>G (p.Val1878Gly) c.5813T>G (p.Val1938Gly) c.5747T>G (p.Val1916Gly) c.5810T>G (p.Val1937Gly) c.5807T>G (p.Val1936Gly) c.5753T>G (p.Val1918Gly) c.5678T>G (p.Val1893Gly) c.5273T>G (p.Val1758Gly) c.4631T>G (p.Val1544Gly) c.2141T>G (p.Val714Gly) n.6056T>G | |
10 | g.71785006T= | CA1918862344 | CDH23 | c.5618T= (p.Val1873=) c.5633T= (p.Val1878=) c.5813T= (p.Val1938=) c.5747T= (p.Val1916=) c.5810T= (p.Val1937=) c.5807T= (p.Val1936=) c.5753T= (p.Val1918=) c.5678T= (p.Val1893=) c.5273T= (p.Val1758=) c.4631T= (p.Val1544=) c.2141T= (p.Val714=) n.6056T= | |
10 | g.71785007C>A | CA470060752 | CDH23 | c.5619C>A (p.Val1873=) c.5634C>A (p.Val1878=) c.5814C>A (p.Val1938=) c.5748C>A (p.Val1916=) c.5811C>A (p.Val1937=) c.5808C>A (p.Val1936=) c.5754C>A (p.Val1918=) c.5679C>A (p.Val1893=) c.5274C>A (p.Val1758=) c.4632C>A (p.Val1544=) c.2142C>A (p.Val714=) n.6057C>A | |
10 | g.71785007C>G | CA470060754 | CDH23 | c.5619C>G (p.Val1873=) c.5634C>G (p.Val1878=) c.5814C>G (p.Val1938=) c.5748C>G (p.Val1916=) c.5811C>G (p.Val1937=) c.5808C>G (p.Val1936=) c.5754C>G (p.Val1918=) c.5679C>G (p.Val1893=) c.5274C>G (p.Val1758=) c.4632C>G (p.Val1544=) c.2142C>G (p.Val714=) n.6057C>G | |
10 | g.71785007C>T | CA470060753 | CDH23 | c.5619C>T (p.Val1873=) c.5634C>T (p.Val1878=) c.5814C>T (p.Val1938=) c.5748C>T (p.Val1916=) c.5811C>T (p.Val1937=) c.5808C>T (p.Val1936=) c.5754C>T (p.Val1918=) c.5679C>T (p.Val1893=) c.5274C>T (p.Val1758=) c.4632C>T (p.Val1544=) c.2142C>T (p.Val714=) n.6057C>T | |
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.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.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.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.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 |