| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71793338_71793339delinsAG | CA1918874272 | CDH23 | c.6410_6411delinsAG (p.Gln2137=) c.6425_6426delinsAG (p.Gln2142=) c.6605_6606delinsAG (p.Gln2202=) c.6539_6540delinsAG (p.Gln2180=) c.6602_6603delinsAG (p.Gln2201=) c.6599_6600delinsAG (p.Gln2200=) c.6545_6546delinsAG (p.Gln2182=) c.6577+28_6577+29delinsAG (n.6577+28_6577+29delinsAG) c.6470_6471delinsAG (p.Gln2157=) c.6065_6066delinsAG (p.Gln2022=) c.5423_5424delinsAG (p.Gln1808=) c.2933_2934delinsAG (p.Gln978=) n.6848_6849delinsAG | |
| 10 | g.71793339G>A | CA668108962 | CDH23 | c.6411G>A (p.Gln2137=) c.6426G>A (p.Gln2142=) c.6606G>A (p.Gln2202=) c.6540G>A (p.Gln2180=) c.6603G>A (p.Gln2201=) c.6600G>A (p.Gln2200=) c.6546G>A (p.Gln2182=) c.6577+29G>A (n.6577+29G>A) c.6471G>A (p.Gln2157=) c.6066G>A (p.Gln2022=) c.5424G>A (p.Gln1808=) c.2934G>A (p.Gln978=) n.6849G>A | ClinVar dbSNP |
| 10 | g.71793339G>C | CA377154888 | CDH23 | c.6411G>C (p.Gln2137His) c.6426G>C (p.Gln2142His) c.6606G>C (p.Gln2202His) c.6540G>C (p.Gln2180His) c.6603G>C (p.Gln2201His) c.6600G>C (p.Gln2200His) c.6546G>C (p.Gln2182His) c.6577+29G>C (n.6577+29G>C) c.6471G>C (p.Gln2157His) c.6066G>C (p.Gln2022His) c.5424G>C (p.Gln1808His) c.2934G>C (p.Gln978His) n.6849G>C | |
| 10 | g.71793339G= | CA1918874276 | CDH23 | c.6411G= (p.Gln2137=) c.6426G= (p.Gln2142=) c.6606G= (p.Gln2202=) c.6540G= (p.Gln2180=) c.6603G= (p.Gln2201=) c.6600G= (p.Gln2200=) c.6546G= (p.Gln2182=) c.6577+29G= (n.6577+29G=) c.6471G= (p.Gln2157=) c.6066G= (p.Gln2022=) c.5424G= (p.Gln1808=) c.2934G= (p.Gln978=) n.6849G= | |
| 10 | g.71793339G>T | CA209466076 | CDH23 | c.6411G>T (p.Gln2137His) c.6426G>T (p.Gln2142His) c.6606G>T (p.Gln2202His) c.6540G>T (p.Gln2180His) c.6603G>T (p.Gln2201His) c.6600G>T (p.Gln2200His) c.6546G>T (p.Gln2182His) c.6577+29G>T (n.6577+29G>T) c.6471G>T (p.Gln2157His) c.6066G>T (p.Gln2022His) c.5424G>T (p.Gln1808His) c.2934G>T (p.Gln978His) n.6849G>T | dbSNP |
| 10 | g.71793340del | CA261795 | CDH23 | c.6412del (p.Glu2138SerfsTer5) c.6427del (p.Glu2143SerfsTer5) c.6607del (p.Glu2203SerfsTer5) c.6541del (p.Glu2181SerfsTer5) c.6604del (p.Glu2202SerfsTer5) c.6601del (p.Glu2201SerfsTer5) c.6547del (p.Glu2183SerfsTer5) c.6577+30del (n.6577+30del) c.6472del (p.Glu2158SerfsTer5) c.6067del (p.Glu2023SerfsTer5) c.5425del (p.Glu1809SerfsTer5) c.2935del (p.Glu979SerfsTer5) n.6850del | ClinVar dbSNP |
| 10 | g.71793340G>A | CA377154896 | CDH23 | c.6412G>A (p.Glu2138Lys) c.6427G>A (p.Glu2143Lys) c.6607G>A (p.Glu2203Lys) c.6541G>A (p.Glu2181Lys) c.6604G>A (p.Glu2202Lys) c.6601G>A (p.Glu2201Lys) c.6547G>A (p.Glu2183Lys) c.6577+30G>A (n.6577+30G>A) c.6472G>A (p.Glu2158Lys) c.6067G>A (p.Glu2023Lys) c.5425G>A (p.Glu1809Lys) c.2935G>A (p.Glu979Lys) n.6850G>A | |
| 10 | g.71793340G>C | CA377154893 | CDH23 | c.6412G>C (p.Glu2138Gln) c.6427G>C (p.Glu2143Gln) c.6607G>C (p.Glu2203Gln) c.6541G>C (p.Glu2181Gln) c.6604G>C (p.Glu2202Gln) c.6601G>C (p.Glu2201Gln) c.6547G>C (p.Glu2183Gln) c.6577+30G>C (n.6577+30G>C) c.6472G>C (p.Glu2158Gln) c.6067G>C (p.Glu2023Gln) c.5425G>C (p.Glu1809Gln) c.2935G>C (p.Glu979Gln) n.6850G>C | |
| 10 | g.71793340G>T | CA377154899 | CDH23 | c.6412G>T (p.Glu2138Ter) c.6427G>T (p.Glu2143Ter) c.6607G>T (p.Glu2203Ter) c.6541G>T (p.Glu2181Ter) c.6604G>T (p.Glu2202Ter) c.6601G>T (p.Glu2201Ter) c.6547G>T (p.Glu2183Ter) c.6577+30G>T (n.6577+30G>T) c.6472G>T (p.Glu2158Ter) c.6067G>T (p.Glu2023Ter) c.5425G>T (p.Glu1809Ter) c.2935G>T (p.Glu979Ter) n.6850G>T | |
| 10 | g.71793341A>C | CA377154902 | CDH23 | c.6413A>C (p.Glu2138Ala) c.6428A>C (p.Glu2143Ala) c.6608A>C (p.Glu2203Ala) c.6542A>C (p.Glu2181Ala) c.6605A>C (p.Glu2202Ala) c.6602A>C (p.Glu2201Ala) c.6548A>C (p.Glu2183Ala) c.6577+31A>C (n.6577+31A>C) c.6473A>C (p.Glu2158Ala) c.6068A>C (p.Glu2023Ala) c.5426A>C (p.Glu1809Ala) c.2936A>C (p.Glu979Ala) n.6851A>C | |
| 10 | g.71793341A>G | CA377154904 | CDH23 | c.6413A>G (p.Glu2138Gly) c.6428A>G (p.Glu2143Gly) c.6608A>G (p.Glu2203Gly) c.6542A>G (p.Glu2181Gly) c.6605A>G (p.Glu2202Gly) c.6602A>G (p.Glu2201Gly) c.6548A>G (p.Glu2183Gly) c.6577+31A>G (n.6577+31A>G) c.6473A>G (p.Glu2158Gly) c.6068A>G (p.Glu2023Gly) c.5426A>G (p.Glu1809Gly) c.2936A>G (p.Glu979Gly) n.6851A>G | gnomAD v4 COSMIC |
| 10 | g.71793341A>T | CA377154907 | CDH23 | c.6413A>T (p.Glu2138Val) c.6428A>T (p.Glu2143Val) c.6608A>T (p.Glu2203Val) c.6542A>T (p.Glu2181Val) c.6605A>T (p.Glu2202Val) c.6602A>T (p.Glu2201Val) c.6548A>T (p.Glu2183Val) c.6577+31A>T (n.6577+31A>T) c.6473A>T (p.Glu2158Val) c.6068A>T (p.Glu2023Val) c.5426A>T (p.Glu1809Val) c.2936A>T (p.Glu979Val) n.6851A>T | |
| 10 | g.71793342G>A | CA2722285850 | CDH23 | c.6414G>A (p.Glu2138=) c.6429G>A (p.Glu2143=) c.6609G>A (p.Glu2203=) c.6543G>A (p.Glu2181=) c.6606G>A (p.Glu2202=) c.6603G>A (p.Glu2201=) c.6549G>A (p.Glu2183=) c.6577+32G>A (n.6577+32G>A) c.6474G>A (p.Glu2158=) c.6069G>A (p.Glu2023=) c.5427G>A (p.Glu1809=) c.2937G>A (p.Glu979=) n.6852G>A | dbSNP |
| 10 | g.71793342G>C | CA377154910 | CDH23 | c.6414G>C (p.Glu2138Asp) c.6429G>C (p.Glu2143Asp) c.6609G>C (p.Glu2203Asp) c.6543G>C (p.Glu2181Asp) c.6606G>C (p.Glu2202Asp) c.6603G>C (p.Glu2201Asp) c.6549G>C (p.Glu2183Asp) c.6577+32G>C (n.6577+32G>C) c.6474G>C (p.Glu2158Asp) c.6069G>C (p.Glu2023Asp) c.5427G>C (p.Glu1809Asp) c.2937G>C (p.Glu979Asp) n.6852G>C | dbSNP |
| 10 | g.71793342G>T | CA377154912 | CDH23 | c.6414G>T (p.Glu2138Asp) c.6429G>T (p.Glu2143Asp) c.6609G>T (p.Glu2203Asp) c.6543G>T (p.Glu2181Asp) c.6606G>T (p.Glu2202Asp) c.6603G>T (p.Glu2201Asp) c.6549G>T (p.Glu2183Asp) c.6577+32G>T (n.6577+32G>T) c.6474G>T (p.Glu2158Asp) c.6069G>T (p.Glu2023Asp) c.5427G>T (p.Glu1809Asp) c.2937G>T (p.Glu979Asp) n.6852G>T | |
| 10 | g.71793343T>A | CA377154917 | CDH23 | c.6415T>A (p.Ser2139Thr) c.6430T>A (p.Ser2144Thr) c.6610T>A (p.Ser2204Thr) c.6544T>A (p.Ser2182Thr) c.6607T>A (p.Ser2203Thr) c.6604T>A (p.Ser2202Thr) c.6550T>A (p.Ser2184Thr) c.6577+33T>A (n.6577+33T>A) c.6475T>A (p.Ser2159Thr) c.6070T>A (p.Ser2024Thr) c.5428T>A (p.Ser1810Thr) c.2938T>A (p.Ser980Thr) n.6853T>A | |
| 10 | g.71793343T>C | CA377154920 | CDH23 | c.6415T>C (p.Ser2139Pro) c.6430T>C (p.Ser2144Pro) c.6610T>C (p.Ser2204Pro) c.6544T>C (p.Ser2182Pro) c.6607T>C (p.Ser2203Pro) c.6604T>C (p.Ser2202Pro) c.6550T>C (p.Ser2184Pro) c.6577+33T>C (n.6577+33T>C) c.6475T>C (p.Ser2159Pro) c.6070T>C (p.Ser2024Pro) c.5428T>C (p.Ser1810Pro) c.2938T>C (p.Ser980Pro) n.6853T>C | |
| 10 | g.71793343T>G | CA377154923 | CDH23 | c.6415T>G (p.Ser2139Ala) c.6430T>G (p.Ser2144Ala) c.6610T>G (p.Ser2204Ala) c.6544T>G (p.Ser2182Ala) c.6607T>G (p.Ser2203Ala) c.6604T>G (p.Ser2202Ala) c.6550T>G (p.Ser2184Ala) c.6577+33T>G (n.6577+33T>G) c.6475T>G (p.Ser2159Ala) c.6070T>G (p.Ser2024Ala) c.5428T>G (p.Ser1810Ala) c.2938T>G (p.Ser980Ala) n.6853T>G | |
| 10 | g.71793344C>A | CA377154925 | CDH23 | c.6416C>A (p.Ser2139Tyr) c.6431C>A (p.Ser2144Tyr) c.6611C>A (p.Ser2204Tyr) c.6545C>A (p.Ser2182Tyr) c.6608C>A (p.Ser2203Tyr) c.6605C>A (p.Ser2202Tyr) c.6551C>A (p.Ser2184Tyr) c.6577+34C>A (n.6577+34C>A) c.6476C>A (p.Ser2159Tyr) c.6071C>A (p.Ser2024Tyr) c.5429C>A (p.Ser1810Tyr) c.2939C>A (p.Ser980Tyr) n.6854C>A | |
| 10 | g.71793344C= | CA1918874277 | CDH23 | c.6416C= (p.Ser2139=) c.6431C= (p.Ser2144=) c.6611C= (p.Ser2204=) c.6545C= (p.Ser2182=) c.6608C= (p.Ser2203=) c.6605C= (p.Ser2202=) c.6551C= (p.Ser2184=) c.6577+34C= (n.6577+34C=) c.6476C= (p.Ser2159=) c.6071C= (p.Ser2024=) c.5429C= (p.Ser1810=) c.2939C= (p.Ser980=) n.6854C= | |
| 10 | g.71793344C>G | CA377154926 | CDH23 | c.6416C>G (p.Ser2139Cys) c.6431C>G (p.Ser2144Cys) c.6611C>G (p.Ser2204Cys) c.6545C>G (p.Ser2182Cys) c.6608C>G (p.Ser2203Cys) c.6605C>G (p.Ser2202Cys) c.6551C>G (p.Ser2184Cys) c.6577+34C>G (n.6577+34C>G) c.6476C>G (p.Ser2159Cys) c.6071C>G (p.Ser2024Cys) c.5429C>G (p.Ser1810Cys) c.2939C>G (p.Ser980Cys) n.6854C>G | dbSNP |
| 10 | g.71793344C>T | CA377154929 | CDH23 | c.6416C>T (p.Ser2139Phe) c.6431C>T (p.Ser2144Phe) c.6611C>T (p.Ser2204Phe) c.6545C>T (p.Ser2182Phe) c.6608C>T (p.Ser2203Phe) c.6605C>T (p.Ser2202Phe) c.6551C>T (p.Ser2184Phe) c.6577+34C>T (n.6577+34C>T) c.6476C>T (p.Ser2159Phe) c.6071C>T (p.Ser2024Phe) c.5429C>T (p.Ser1810Phe) c.2939C>T (p.Ser980Phe) n.6854C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71793345C= | CA1918874279 | CDH23 | c.6417C= (p.Ser2139=) c.6432C= (p.Ser2144=) c.6612C= (p.Ser2204=) c.6546C= (p.Ser2182=) c.6609C= (p.Ser2203=) c.6606C= (p.Ser2202=) c.6552C= (p.Ser2184=) c.6577+35C= (n.6577+35C=) c.6477C= (p.Ser2159=) c.6072C= (p.Ser2024=) c.5430C= (p.Ser1810=) c.2940C= (p.Ser980=) n.6855C= | |
| 10 | g.71793345C>G | CA209466082 | CDH23 | c.6417C>G (p.Ser2139=) c.6432C>G (p.Ser2144=) c.6612C>G (p.Ser2204=) c.6546C>G (p.Ser2182=) c.6609C>G (p.Ser2203=) c.6606C>G (p.Ser2202=) c.6552C>G (p.Ser2184=) c.6577+35C>G (n.6577+35C>G) c.6477C>G (p.Ser2159=) c.6072C>G (p.Ser2024=) c.5430C>G (p.Ser1810=) c.2940C>G (p.Ser980=) n.6855C>G | dbSNP |
| 10 | g.71793345C>T | CA5546072 | CDH23 | c.6417C>T (p.Ser2139=) c.6432C>T (p.Ser2144=) c.6612C>T (p.Ser2204=) c.6546C>T (p.Ser2182=) c.6609C>T (p.Ser2203=) c.6606C>T (p.Ser2202=) c.6552C>T (p.Ser2184=) c.6577+35C>T (n.6577+35C>T) c.6477C>T (p.Ser2159=) c.6072C>T (p.Ser2024=) c.5430C>T (p.Ser1810=) c.2940C>T (p.Ser980=) n.6855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793346T>A | CA377154933 | CDH23 | c.6418T>A (p.Tyr2140Asn) c.6433T>A (p.Tyr2145Asn) c.6613T>A (p.Tyr2205Asn) c.6547T>A (p.Tyr2183Asn) c.6610T>A (p.Tyr2204Asn) c.6607T>A (p.Tyr2203Asn) c.6553T>A (p.Tyr2185Asn) c.6577+36T>A (n.6577+36T>A) c.6478T>A (p.Tyr2160Asn) c.6073T>A (p.Tyr2025Asn) c.5431T>A (p.Tyr1811Asn) c.2941T>A (p.Tyr981Asn) n.6856T>A | |
| 10 | g.71793346T>C | CA377154937 | CDH23 | c.6418T>C (p.Tyr2140His) c.6433T>C (p.Tyr2145His) c.6613T>C (p.Tyr2205His) c.6547T>C (p.Tyr2183His) c.6610T>C (p.Tyr2204His) c.6607T>C (p.Tyr2203His) c.6553T>C (p.Tyr2185His) c.6577+36T>C (n.6577+36T>C) c.6478T>C (p.Tyr2160His) c.6073T>C (p.Tyr2025His) c.5431T>C (p.Tyr1811His) c.2941T>C (p.Tyr981His) n.6856T>C | ClinVar dbSNP gnomAD v4 |
| 10 | g.71793346T>G | CA377154936 | CDH23 | c.6418T>G (p.Tyr2140Asp) c.6433T>G (p.Tyr2145Asp) c.6613T>G (p.Tyr2205Asp) c.6547T>G (p.Tyr2183Asp) c.6610T>G (p.Tyr2204Asp) c.6607T>G (p.Tyr2203Asp) c.6553T>G (p.Tyr2185Asp) c.6577+36T>G (n.6577+36T>G) c.6478T>G (p.Tyr2160Asp) c.6073T>G (p.Tyr2025Asp) c.5431T>G (p.Tyr1811Asp) c.2941T>G (p.Tyr981Asp) n.6856T>G | |
| 10 | g.71793346T= | CA1918874281 | CDH23 | c.6418T= (p.Tyr2140=) c.6433T= (p.Tyr2145=) c.6613T= (p.Tyr2205=) c.6547T= (p.Tyr2183=) c.6610T= (p.Tyr2204=) c.6607T= (p.Tyr2203=) c.6553T= (p.Tyr2185=) c.6577+36T= (n.6577+36T=) c.6478T= (p.Tyr2160=) c.6073T= (p.Tyr2025=) c.5431T= (p.Tyr1811=) c.2941T= (p.Tyr981=) n.6856T= | |
| 10 | g.71793347A>C | CA377154939 | CDH23 | c.6419A>C (p.Tyr2140Ser) c.6434A>C (p.Tyr2145Ser) c.6614A>C (p.Tyr2205Ser) c.6548A>C (p.Tyr2183Ser) c.6611A>C (p.Tyr2204Ser) c.6608A>C (p.Tyr2203Ser) c.6554A>C (p.Tyr2185Ser) c.6577+37A>C (n.6577+37A>C) c.6479A>C (p.Tyr2160Ser) c.6074A>C (p.Tyr2025Ser) c.5432A>C (p.Tyr1811Ser) c.2942A>C (p.Tyr981Ser) n.6857A>C | |
| 10 | g.71793347A>G | CA377154941 | CDH23 | c.6419A>G (p.Tyr2140Cys) c.6434A>G (p.Tyr2145Cys) c.6614A>G (p.Tyr2205Cys) c.6548A>G (p.Tyr2183Cys) c.6611A>G (p.Tyr2204Cys) c.6608A>G (p.Tyr2203Cys) c.6554A>G (p.Tyr2185Cys) c.6577+37A>G (n.6577+37A>G) c.6479A>G (p.Tyr2160Cys) c.6074A>G (p.Tyr2025Cys) c.5432A>G (p.Tyr1811Cys) c.2942A>G (p.Tyr981Cys) n.6857A>G | |
| 10 | g.71793347A>T | CA377154945 | CDH23 | c.6419A>T (p.Tyr2140Phe) c.6434A>T (p.Tyr2145Phe) c.6614A>T (p.Tyr2205Phe) c.6548A>T (p.Tyr2183Phe) c.6611A>T (p.Tyr2204Phe) c.6608A>T (p.Tyr2203Phe) c.6554A>T (p.Tyr2185Phe) c.6577+37A>T (n.6577+37A>T) c.6479A>T (p.Tyr2160Phe) c.6074A>T (p.Tyr2025Phe) c.5432A>T (p.Tyr1811Phe) c.2942A>T (p.Tyr981Phe) n.6857A>T | |
| 10 | g.71793348C>A | CA377154948 | CDH23 | c.6420C>A (p.Tyr2140Ter) c.6435C>A (p.Tyr2145Ter) c.6615C>A (p.Tyr2205Ter) c.6549C>A (p.Tyr2183Ter) c.6612C>A (p.Tyr2204Ter) c.6609C>A (p.Tyr2203Ter) c.6555C>A (p.Tyr2185Ter) c.6577+38C>A (n.6577+38C>A) c.6480C>A (p.Tyr2160Ter) c.6075C>A (p.Tyr2025Ter) c.5433C>A (p.Tyr1811Ter) c.2943C>A (p.Tyr981Ter) n.6858C>A | |
| 10 | g.71793348C= | CA1918874283 | CDH23 | c.6420C= (p.Tyr2140=) c.6435C= (p.Tyr2145=) c.6615C= (p.Tyr2205=) c.6549C= (p.Tyr2183=) c.6612C= (p.Tyr2204=) c.6609C= (p.Tyr2203=) c.6555C= (p.Tyr2185=) c.6577+38C= (n.6577+38C=) c.6480C= (p.Tyr2160=) c.6075C= (p.Tyr2025=) c.5433C= (p.Tyr1811=) c.2943C= (p.Tyr981=) n.6858C= | |
| 10 | g.71793348C>G | CA5546073 | CDH23 | c.6420C>G (p.Tyr2140Ter) c.6435C>G (p.Tyr2145Ter) c.6615C>G (p.Tyr2205Ter) c.6549C>G (p.Tyr2183Ter) c.6612C>G (p.Tyr2204Ter) c.6609C>G (p.Tyr2203Ter) c.6555C>G (p.Tyr2185Ter) c.6577+38C>G (n.6577+38C>G) c.6480C>G (p.Tyr2160Ter) c.6075C>G (p.Tyr2025Ter) c.5433C>G (p.Tyr1811Ter) c.2943C>G (p.Tyr981Ter) n.6858C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793348C>T | CA2538860961 | CDH23 | c.6420C>T (p.Tyr2140=) c.6435C>T (p.Tyr2145=) c.6615C>T (p.Tyr2205=) c.6549C>T (p.Tyr2183=) c.6612C>T (p.Tyr2204=) c.6609C>T (p.Tyr2203=) c.6555C>T (p.Tyr2185=) c.6577+38C>T (n.6577+38C>T) c.6480C>T (p.Tyr2160=) c.6075C>T (p.Tyr2025=) c.5433C>T (p.Tyr1811=) c.2943C>T (p.Tyr981=) n.6858C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.71793349A= | CA1918874286 | CDH23 | c.6421A= (p.Arg2141=) c.6436A= (p.Arg2146=) c.6616A= (p.Arg2206=) c.6550A= (p.Arg2184=) c.6613A= (p.Arg2205=) c.6610A= (p.Arg2204=) c.6556A= (p.Arg2186=) c.6577+39A= (n.6577+39A=) c.6481A= (p.Arg2161=) c.6076A= (p.Arg2026=) c.5434A= (p.Arg1812=) c.2944A= (p.Arg982=) n.6859A= | |
| 10 | g.71793349A>C | CA1918874288 | CDH23 | c.6421A>C (p.Arg2141=) c.6436A>C (p.Arg2146=) c.6616A>C (p.Arg2206=) c.6550A>C (p.Arg2184=) c.6613A>C (p.Arg2205=) c.6610A>C (p.Arg2204=) c.6556A>C (p.Arg2186=) c.6577+39A>C (n.6577+39A>C) c.6481A>C (p.Arg2161=) c.6076A>C (p.Arg2026=) c.5434A>C (p.Arg1812=) c.2944A>C (p.Arg982=) n.6859A>C | ClinVar dbSNP gnomAD v4 |
| 10 | g.71793349A>G | CA5546074 | CDH23 | c.6421A>G (p.Arg2141Gly) c.6436A>G (p.Arg2146Gly) c.6616A>G (p.Arg2206Gly) c.6550A>G (p.Arg2184Gly) c.6613A>G (p.Arg2205Gly) c.6610A>G (p.Arg2204Gly) c.6556A>G (p.Arg2186Gly) c.6577+39A>G (n.6577+39A>G) c.6481A>G (p.Arg2161Gly) c.6076A>G (p.Arg2026Gly) c.5434A>G (p.Arg1812Gly) c.2944A>G (p.Arg982Gly) n.6859A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793349A>T | CA377154953 | CDH23 | c.6421A>T (p.Arg2141Trp) c.6436A>T (p.Arg2146Trp) c.6616A>T (p.Arg2206Trp) c.6550A>T (p.Arg2184Trp) c.6613A>T (p.Arg2205Trp) c.6610A>T (p.Arg2204Trp) c.6556A>T (p.Arg2186Trp) c.6577+39A>T (n.6577+39A>T) c.6481A>T (p.Arg2161Trp) c.6076A>T (p.Arg2026Trp) c.5434A>T (p.Arg1812Trp) c.2944A>T (p.Arg982Trp) n.6859A>T | |
| 10 | g.71793350G>A | CA5546075 | CDH23 | c.6422G>A (p.Arg2141Lys) c.6437G>A (p.Arg2146Lys) c.6617G>A (p.Arg2206Lys) c.6551G>A (p.Arg2184Lys) c.6614G>A (p.Arg2205Lys) c.6611G>A (p.Arg2204Lys) c.6557G>A (p.Arg2186Lys) c.6577+40G>A (n.6577+40G>A) c.6482G>A (p.Arg2161Lys) c.6077G>A (p.Arg2026Lys) c.5435G>A (p.Arg1812Lys) c.2945G>A (p.Arg982Lys) n.6860G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793350G>C | CA377154955 | CDH23 | c.6422G>C (p.Arg2141Thr) c.6437G>C (p.Arg2146Thr) c.6617G>C (p.Arg2206Thr) c.6551G>C (p.Arg2184Thr) c.6614G>C (p.Arg2205Thr) c.6611G>C (p.Arg2204Thr) c.6557G>C (p.Arg2186Thr) c.6577+40G>C (n.6577+40G>C) c.6482G>C (p.Arg2161Thr) c.6077G>C (p.Arg2026Thr) c.5435G>C (p.Arg1812Thr) c.2945G>C (p.Arg982Thr) n.6860G>C | |
| 10 | g.71793350G= | CA1918874290 | CDH23 | c.6422G= (p.Arg2141=) c.6437G= (p.Arg2146=) c.6617G= (p.Arg2206=) c.6551G= (p.Arg2184=) c.6614G= (p.Arg2205=) c.6611G= (p.Arg2204=) c.6557G= (p.Arg2186=) c.6577+40G= (n.6577+40G=) c.6482G= (p.Arg2161=) c.6077G= (p.Arg2026=) c.5435G= (p.Arg1812=) c.2945G= (p.Arg982=) n.6860G= | |
| 10 | g.71793350G>T | CA209466097 | CDH23 | c.6422G>T (p.Arg2141Met) c.6437G>T (p.Arg2146Met) c.6617G>T (p.Arg2206Met) c.6551G>T (p.Arg2184Met) c.6614G>T (p.Arg2205Met) c.6611G>T (p.Arg2204Met) c.6557G>T (p.Arg2186Met) c.6577+40G>T (n.6577+40G>T) c.6482G>T (p.Arg2161Met) c.6077G>T (p.Arg2026Met) c.5435G>T (p.Arg1812Met) c.2945G>T (p.Arg982Met) n.6860G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793351G>A | CA929791334 | CDH23 | c.6423G>A (p.Arg2141=) c.6438G>A (p.Arg2146=) c.6618G>A (p.Arg2206=) c.6552G>A (p.Arg2184=) c.6615G>A (p.Arg2205=) c.6612G>A (p.Arg2204=) c.6558G>A (p.Arg2186=) c.6577+41G>A (n.6577+41G>A) c.6483G>A (p.Arg2161=) c.6078G>A (p.Arg2026=) c.5436G>A (p.Arg1812=) c.2946G>A (p.Arg982=) n.6861G>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71793351G>C | CA5546076 | CDH23 | c.6423G>C (p.Arg2141Ser) c.6438G>C (p.Arg2146Ser) c.6618G>C (p.Arg2206Ser) c.6552G>C (p.Arg2184Ser) c.6615G>C (p.Arg2205Ser) c.6612G>C (p.Arg2204Ser) c.6558G>C (p.Arg2186Ser) c.6577+41G>C (n.6577+41G>C) c.6483G>C (p.Arg2161Ser) c.6078G>C (p.Arg2026Ser) c.5436G>C (p.Arg1812Ser) c.2946G>C (p.Arg982Ser) n.6861G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793351G= | CA1918874292 | CDH23 | c.6423G= (p.Arg2141=) c.6438G= (p.Arg2146=) c.6618G= (p.Arg2206=) c.6552G= (p.Arg2184=) c.6615G= (p.Arg2205=) c.6612G= (p.Arg2204=) c.6558G= (p.Arg2186=) c.6577+41G= (n.6577+41G=) c.6483G= (p.Arg2161=) c.6078G= (p.Arg2026=) c.5436G= (p.Arg1812=) c.2946G= (p.Arg982=) n.6861G= | |
| 10 | g.71793351G>T | CA377154959 | CDH23 | c.6423G>T (p.Arg2141Ser) c.6438G>T (p.Arg2146Ser) c.6618G>T (p.Arg2206Ser) c.6552G>T (p.Arg2184Ser) c.6615G>T (p.Arg2205Ser) c.6612G>T (p.Arg2204Ser) c.6558G>T (p.Arg2186Ser) c.6577+41G>T (n.6577+41G>T) c.6483G>T (p.Arg2161Ser) c.6078G>T (p.Arg2026Ser) c.5436G>T (p.Arg1812Ser) c.2946G>T (p.Arg982Ser) n.6861G>T | |
| 10 | g.71793352C>A | CA377154961 | CDH23 | c.6424C>A (p.Leu2142Ile) c.6439C>A (p.Leu2147Ile) c.6619C>A (p.Leu2207Ile) c.6553C>A (p.Leu2185Ile) c.6616C>A (p.Leu2206Ile) c.6613C>A (p.Leu2205Ile) c.6559C>A (p.Leu2187Ile) c.6577+42C>A (n.6577+42C>A) c.6484C>A (p.Leu2162Ile) c.6079C>A (p.Leu2027Ile) c.5437C>A (p.Leu1813Ile) c.2947C>A (p.Leu983Ile) n.6862C>A | |
| 10 | g.71793352C>G | CA377154963 | CDH23 | c.6424C>G (p.Leu2142Val) c.6439C>G (p.Leu2147Val) c.6619C>G (p.Leu2207Val) c.6553C>G (p.Leu2185Val) c.6616C>G (p.Leu2206Val) c.6613C>G (p.Leu2205Val) c.6559C>G (p.Leu2187Val) c.6577+42C>G (n.6577+42C>G) c.6484C>G (p.Leu2162Val) c.6079C>G (p.Leu2027Val) c.5437C>G (p.Leu1813Val) c.2947C>G (p.Leu983Val) n.6862C>G |