| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71793239T>A | CA377154217 | CDH23 | c.6311T>A (p.Leu2104Gln) c.6326T>A (p.Leu2109Gln) c.6506T>A (p.Leu2169Gln) c.6440T>A (p.Leu2147Gln) c.6503T>A (p.Leu2168Gln) c.6500T>A (p.Leu2167Gln) c.6446T>A (p.Leu2149Gln) c.6371T>A (p.Leu2124Gln) c.5966T>A (p.Leu1989Gln) c.5324T>A (p.Leu1775Gln) c.2834T>A (p.Leu945Gln) n.6749T>A | |
| 10 | g.71793239T>C | CA377154219 | CDH23 | c.6311T>C (p.Leu2104Pro) c.6326T>C (p.Leu2109Pro) c.6506T>C (p.Leu2169Pro) c.6440T>C (p.Leu2147Pro) c.6503T>C (p.Leu2168Pro) c.6500T>C (p.Leu2167Pro) c.6446T>C (p.Leu2149Pro) c.6371T>C (p.Leu2124Pro) c.5966T>C (p.Leu1989Pro) c.5324T>C (p.Leu1775Pro) c.2834T>C (p.Leu945Pro) n.6749T>C | |
| 10 | g.71793239T>G | CA377154224 | CDH23 | c.6311T>G (p.Leu2104Arg) c.6326T>G (p.Leu2109Arg) c.6506T>G (p.Leu2169Arg) c.6440T>G (p.Leu2147Arg) c.6503T>G (p.Leu2168Arg) c.6500T>G (p.Leu2167Arg) c.6446T>G (p.Leu2149Arg) c.6371T>G (p.Leu2124Arg) c.5966T>G (p.Leu1989Arg) c.5324T>G (p.Leu1775Arg) c.2834T>G (p.Leu945Arg) n.6749T>G | |
| 10 | g.71793239_71793240delinsTG | CA1918874160 | CDH23 | c.6311_6312delinsTG (p.Leu2104=) c.6326_6327delinsTG (p.Leu2109=) c.6506_6507delinsTG (p.Leu2169=) c.6440_6441delinsTG (p.Leu2147=) c.6503_6504delinsTG (p.Leu2168=) c.6500_6501delinsTG (p.Leu2167=) c.6446_6447delinsTG (p.Leu2149=) c.6371_6372delinsTG (p.Leu2124=) c.5966_5967delinsTG (p.Leu1989=) c.5324_5325delinsTG (p.Leu1775=) c.2834_2835delinsTG (p.Leu945=) n.6749_6750delinsTG | |
| 10 | g.71793239_71793272delinsCCA | CA2695199526 | CDH23 | c.6311_6344delinsCCA (p.Leu2104ProfsTer29) c.6326_6359delinsCCA (p.Leu2109ProfsTer29) c.6506_6539delinsCCA (p.Leu2169ProfsTer29) c.6440_6473delinsCCA (p.Leu2147ProfsTer29) c.6503_6536delinsCCA (p.Leu2168ProfsTer29) c.6500_6533delinsCCA (p.Leu2167ProfsTer29) c.6446_6479delinsCCA (p.Leu2149ProfsTer29) c.6506_6539delinsCCA (p.Leu2169ProfsTer20) c.6371_6404delinsCCA (p.Leu2124ProfsTer29) c.5966_5999delinsCCA (p.Leu1989ProfsTer29) c.5324_5357delinsCCA (p.Leu1775ProfsTer29) c.2834_2867delinsCCA (p.Leu945ProfsTer29) n.6749_6782delinsCCA | |
| 10 | g.71793240G>A | CA2722065365 | CDH23 | c.6312G>A (p.Leu2104=) c.6327G>A (p.Leu2109=) c.6507G>A (p.Leu2169=) c.6441G>A (p.Leu2147=) c.6504G>A (p.Leu2168=) c.6501G>A (p.Leu2167=) c.6447G>A (p.Leu2149=) c.6372G>A (p.Leu2124=) c.5967G>A (p.Leu1989=) c.5325G>A (p.Leu1775=) c.2835G>A (p.Leu945=) n.6750G>A | dbSNP |
| 10 | g.71793240G= | CA1918874162 | CDH23 | c.6312G= (p.Leu2104=) c.6327G= (p.Leu2109=) c.6507G= (p.Leu2169=) c.6441G= (p.Leu2147=) c.6504G= (p.Leu2168=) c.6501G= (p.Leu2167=) c.6447G= (p.Leu2149=) c.6372G= (p.Leu2124=) c.5967G= (p.Leu1989=) c.5325G= (p.Leu1775=) c.2835G= (p.Leu945=) n.6750G= | |
| 10 | g.71793240G>T | CA1918874163 | CDH23 | c.6312G>T (p.Leu2104=) c.6327G>T (p.Leu2109=) c.6507G>T (p.Leu2169=) c.6441G>T (p.Leu2147=) c.6504G>T (p.Leu2168=) c.6501G>T (p.Leu2167=) c.6447G>T (p.Leu2149=) c.6372G>T (p.Leu2124=) c.5967G>T (p.Leu1989=) c.5325G>T (p.Leu1775=) c.2835G>T (p.Leu945=) n.6750G>T | dbSNP gnomAD v4 |
| 10 | g.71793241del | CA5546053 | CDH23 | c.6313del (p.Val2105SerfsTer4) c.6328del (p.Val2110SerfsTer4) c.6508del (p.Val2170SerfsTer4) c.6442del (p.Val2148SerfsTer4) c.6505del (p.Val2169SerfsTer4) c.6502del (p.Val2168SerfsTer4) c.6448del (p.Val2150SerfsTer4) c.6373del (p.Val2125SerfsTer4) c.5968del (p.Val1990SerfsTer4) c.5326del (p.Val1776SerfsTer4) c.2836del (p.Val946SerfsTer4) n.6751del | dbSNP ExAC gnomAD v2 |
| 10 | g.71793241G>A | CA377154229 | CDH23 | c.6313G>A (p.Val2105Ile) c.6328G>A (p.Val2110Ile) c.6508G>A (p.Val2170Ile) c.6442G>A (p.Val2148Ile) c.6505G>A (p.Val2169Ile) c.6502G>A (p.Val2168Ile) c.6448G>A (p.Val2150Ile) c.6373G>A (p.Val2125Ile) c.5968G>A (p.Val1990Ile) c.5326G>A (p.Val1776Ile) c.2836G>A (p.Val946Ile) n.6751G>A | dbSNP |
| 10 | g.71793241G>C | CA377154246 | CDH23 | c.6313G>C (p.Val2105Leu) c.6328G>C (p.Val2110Leu) c.6508G>C (p.Val2170Leu) c.6442G>C (p.Val2148Leu) c.6505G>C (p.Val2169Leu) c.6502G>C (p.Val2168Leu) c.6448G>C (p.Val2150Leu) c.6373G>C (p.Val2125Leu) c.5968G>C (p.Val1990Leu) c.5326G>C (p.Val1776Leu) c.2836G>C (p.Val946Leu) n.6751G>C | gnomAD v4 |
| 10 | g.71793241G= | CA1918874165 | CDH23 | c.6313G= (p.Val2105=) c.6328G= (p.Val2110=) c.6508G= (p.Val2170=) c.6442G= (p.Val2148=) c.6505G= (p.Val2169=) c.6502G= (p.Val2168=) c.6448G= (p.Val2150=) c.6373G= (p.Val2125=) c.5968G= (p.Val1990=) c.5326G= (p.Val1776=) c.2836G= (p.Val946=) n.6751G= | |
| 10 | g.71793241G>T | CA377154249 | CDH23 | c.6313G>T (p.Val2105Phe) c.6328G>T (p.Val2110Phe) c.6508G>T (p.Val2170Phe) c.6442G>T (p.Val2148Phe) c.6505G>T (p.Val2169Phe) c.6502G>T (p.Val2168Phe) c.6448G>T (p.Val2150Phe) c.6373G>T (p.Val2125Phe) c.5968G>T (p.Val1990Phe) c.5326G>T (p.Val1776Phe) c.2836G>T (p.Val946Phe) n.6751G>T | |
| 10 | g.71793242T>A | CA377154252 | CDH23 | c.6314T>A (p.Val2105Asp) c.6329T>A (p.Val2110Asp) c.6509T>A (p.Val2170Asp) c.6443T>A (p.Val2148Asp) c.6506T>A (p.Val2169Asp) c.6503T>A (p.Val2168Asp) c.6449T>A (p.Val2150Asp) c.6374T>A (p.Val2125Asp) c.5969T>A (p.Val1990Asp) c.5327T>A (p.Val1776Asp) c.2837T>A (p.Val946Asp) n.6752T>A | |
| 10 | g.71793242T>C | CA377154254 | CDH23 | c.6314T>C (p.Val2105Ala) c.6329T>C (p.Val2110Ala) c.6509T>C (p.Val2170Ala) c.6443T>C (p.Val2148Ala) c.6506T>C (p.Val2169Ala) c.6503T>C (p.Val2168Ala) c.6449T>C (p.Val2150Ala) c.6374T>C (p.Val2125Ala) c.5969T>C (p.Val1990Ala) c.5327T>C (p.Val1776Ala) c.2837T>C (p.Val946Ala) n.6752T>C | |
| 10 | g.71793242T>G | CA377154256 | CDH23 | c.6314T>G (p.Val2105Gly) c.6329T>G (p.Val2110Gly) c.6509T>G (p.Val2170Gly) c.6443T>G (p.Val2148Gly) c.6506T>G (p.Val2169Gly) c.6503T>G (p.Val2168Gly) c.6449T>G (p.Val2150Gly) c.6374T>G (p.Val2125Gly) c.5969T>G (p.Val1990Gly) c.5327T>G (p.Val1776Gly) c.2837T>G (p.Val946Gly) n.6752T>G | |
| 10 | g.71793243C>A | CA1918874167 | CDH23 | c.6315C>A (p.Val2105=) c.6330C>A (p.Val2110=) c.6510C>A (p.Val2170=) c.6444C>A (p.Val2148=) c.6507C>A (p.Val2169=) c.6504C>A (p.Val2168=) c.6450C>A (p.Val2150=) c.6375C>A (p.Val2125=) c.5970C>A (p.Val1990=) c.5328C>A (p.Val1776=) c.2838C>A (p.Val946=) n.6753C>A | dbSNP gnomAD v4 |
| 10 | g.71793243C= | CA1918874166 | CDH23 | c.6315C= (p.Val2105=) c.6330C= (p.Val2110=) c.6510C= (p.Val2170=) c.6444C= (p.Val2148=) c.6507C= (p.Val2169=) c.6504C= (p.Val2168=) c.6450C= (p.Val2150=) c.6375C= (p.Val2125=) c.5970C= (p.Val1990=) c.5328C= (p.Val1776=) c.2838C= (p.Val946=) n.6753C= | |
| 10 | g.71793243C>G | CA2722051847 | CDH23 | c.6315C>G (p.Val2105=) c.6330C>G (p.Val2110=) c.6510C>G (p.Val2170=) c.6444C>G (p.Val2148=) c.6507C>G (p.Val2169=) c.6504C>G (p.Val2168=) c.6450C>G (p.Val2150=) c.6375C>G (p.Val2125=) c.5970C>G (p.Val1990=) c.5328C>G (p.Val1776=) c.2838C>G (p.Val946=) n.6753C>G | dbSNP |
| 10 | g.71793243C>T | CA2739275742 | CDH23 | c.6315C>T (p.Val2105=) c.6330C>T (p.Val2110=) c.6510C>T (p.Val2170=) c.6444C>T (p.Val2148=) c.6507C>T (p.Val2169=) c.6504C>T (p.Val2168=) c.6450C>T (p.Val2150=) c.6375C>T (p.Val2125=) c.5970C>T (p.Val1990=) c.5328C>T (p.Val1776=) c.2838C>T (p.Val946=) n.6753C>T | |
| 10 | g.71793244T>A | CA377154259 | CDH23 | c.6316T>A (p.Tyr2106Asn) c.6331T>A (p.Tyr2111Asn) c.6511T>A (p.Tyr2171Asn) c.6445T>A (p.Tyr2149Asn) c.6508T>A (p.Tyr2170Asn) c.6505T>A (p.Tyr2169Asn) c.6451T>A (p.Tyr2151Asn) c.6376T>A (p.Tyr2126Asn) c.5971T>A (p.Tyr1991Asn) c.5329T>A (p.Tyr1777Asn) c.2839T>A (p.Tyr947Asn) n.6754T>A | |
| 10 | g.71793244T>C | CA377154266 | CDH23 | c.6316T>C (p.Tyr2106His) c.6331T>C (p.Tyr2111His) c.6511T>C (p.Tyr2171His) c.6445T>C (p.Tyr2149His) c.6508T>C (p.Tyr2170His) c.6505T>C (p.Tyr2169His) c.6451T>C (p.Tyr2151His) c.6376T>C (p.Tyr2126His) c.5971T>C (p.Tyr1991His) c.5329T>C (p.Tyr1777His) c.2839T>C (p.Tyr947His) n.6754T>C | |
| 10 | g.71793244T>G | CA377154264 | CDH23 | c.6316T>G (p.Tyr2106Asp) c.6331T>G (p.Tyr2111Asp) c.6511T>G (p.Tyr2171Asp) c.6445T>G (p.Tyr2149Asp) c.6508T>G (p.Tyr2170Asp) c.6505T>G (p.Tyr2169Asp) c.6451T>G (p.Tyr2151Asp) c.6376T>G (p.Tyr2126Asp) c.5971T>G (p.Tyr1991Asp) c.5329T>G (p.Tyr1777Asp) c.2839T>G (p.Tyr947Asp) n.6754T>G | |
| 10 | g.71793245A>C | CA377154268 | CDH23 | c.6317A>C (p.Tyr2106Ser) c.6332A>C (p.Tyr2111Ser) c.6512A>C (p.Tyr2171Ser) c.6446A>C (p.Tyr2149Ser) c.6509A>C (p.Tyr2170Ser) c.6506A>C (p.Tyr2169Ser) c.6452A>C (p.Tyr2151Ser) c.6377A>C (p.Tyr2126Ser) c.5972A>C (p.Tyr1991Ser) c.5330A>C (p.Tyr1777Ser) c.2840A>C (p.Tyr947Ser) n.6755A>C | |
| 10 | g.71793245A>G | CA377154270 | CDH23 | c.6317A>G (p.Tyr2106Cys) c.6332A>G (p.Tyr2111Cys) c.6512A>G (p.Tyr2171Cys) c.6446A>G (p.Tyr2149Cys) c.6509A>G (p.Tyr2170Cys) c.6506A>G (p.Tyr2169Cys) c.6452A>G (p.Tyr2151Cys) c.6377A>G (p.Tyr2126Cys) c.5972A>G (p.Tyr1991Cys) c.5330A>G (p.Tyr1777Cys) c.2840A>G (p.Tyr947Cys) n.6755A>G | |
| 10 | g.71793245A>T | CA377154273 | CDH23 | c.6317A>T (p.Tyr2106Phe) c.6332A>T (p.Tyr2111Phe) c.6512A>T (p.Tyr2171Phe) c.6446A>T (p.Tyr2149Phe) c.6509A>T (p.Tyr2170Phe) c.6506A>T (p.Tyr2169Phe) c.6452A>T (p.Tyr2151Phe) c.6377A>T (p.Tyr2126Phe) c.5972A>T (p.Tyr1991Phe) c.5330A>T (p.Tyr1777Phe) c.2840A>T (p.Tyr947Phe) n.6755A>T | |
| 10 | g.71793246C>A | CA377154276 | CDH23 | c.6318C>A (p.Tyr2106Ter) c.6333C>A (p.Tyr2111Ter) c.6513C>A (p.Tyr2171Ter) c.6447C>A (p.Tyr2149Ter) c.6510C>A (p.Tyr2170Ter) c.6507C>A (p.Tyr2169Ter) c.6453C>A (p.Tyr2151Ter) c.6378C>A (p.Tyr2126Ter) c.5973C>A (p.Tyr1991Ter) c.5331C>A (p.Tyr1777Ter) c.2841C>A (p.Tyr947Ter) n.6756C>A | |
| 10 | g.71793246C>G | CA377154277 | CDH23 | c.6318C>G (p.Tyr2106Ter) c.6333C>G (p.Tyr2111Ter) c.6513C>G (p.Tyr2171Ter) c.6447C>G (p.Tyr2149Ter) c.6510C>G (p.Tyr2170Ter) c.6507C>G (p.Tyr2169Ter) c.6453C>G (p.Tyr2151Ter) c.6378C>G (p.Tyr2126Ter) c.5973C>G (p.Tyr1991Ter) c.5331C>G (p.Tyr1777Ter) c.2841C>G (p.Tyr947Ter) n.6756C>G | dbSNP |
| 10 | g.71793247C>A | CA2499220348 | CDH23 | c.6319C>A (p.Arg2107=) c.6334C>A (p.Arg2112=) c.6514C>A (p.Arg2172=) c.6448C>A (p.Arg2150=) c.6511C>A (p.Arg2171=) c.6508C>A (p.Arg2170=) c.6454C>A (p.Arg2152=) c.6379C>A (p.Arg2127=) c.5974C>A (p.Arg1992=) c.5332C>A (p.Arg1778=) c.2842C>A (p.Arg948=) n.6757C>A | ClinVar dbSNP |
| 10 | g.71793247C= | CA1918874169 | CDH23 | c.6319C= (p.Arg2107=) c.6334C= (p.Arg2112=) c.6514C= (p.Arg2172=) c.6448C= (p.Arg2150=) c.6511C= (p.Arg2171=) c.6508C= (p.Arg2170=) c.6454C= (p.Arg2152=) c.6379C= (p.Arg2127=) c.5974C= (p.Arg1992=) c.5332C= (p.Arg1778=) c.2842C= (p.Arg948=) n.6757C= | |
| 10 | g.71793247C>G | CA377154278 | CDH23 | c.6319C>G (p.Arg2107Gly) c.6334C>G (p.Arg2112Gly) c.6514C>G (p.Arg2172Gly) c.6448C>G (p.Arg2150Gly) c.6511C>G (p.Arg2171Gly) c.6508C>G (p.Arg2170Gly) c.6454C>G (p.Arg2152Gly) c.6379C>G (p.Arg2127Gly) c.5974C>G (p.Arg1992Gly) c.5332C>G (p.Arg1778Gly) c.2842C>G (p.Arg948Gly) n.6757C>G | dbSNP gnomAD v4 |
| 10 | g.71793247C>T | CA377154279 | CDH23 | c.6319C>T (p.Arg2107Ter) c.6334C>T (p.Arg2112Ter) c.6514C>T (p.Arg2172Ter) c.6448C>T (p.Arg2150Ter) c.6511C>T (p.Arg2171Ter) c.6508C>T (p.Arg2170Ter) c.6454C>T (p.Arg2152Ter) c.6379C>T (p.Arg2127Ter) c.5974C>T (p.Arg1992Ter) c.5332C>T (p.Arg1778Ter) c.2842C>T (p.Arg948Ter) n.6757C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71793248G>A | CA5546054 | CDH23 | c.6320G>A (p.Arg2107Gln) c.6335G>A (p.Arg2112Gln) c.6515G>A (p.Arg2172Gln) c.6449G>A (p.Arg2150Gln) c.6512G>A (p.Arg2171Gln) c.6509G>A (p.Arg2170Gln) c.6455G>A (p.Arg2152Gln) c.6380G>A (p.Arg2127Gln) c.5975G>A (p.Arg1992Gln) c.5333G>A (p.Arg1778Gln) c.2843G>A (p.Arg948Gln) n.6758G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71793248G>C | CA377154282 | CDH23 | c.6320G>C (p.Arg2107Pro) c.6335G>C (p.Arg2112Pro) c.6515G>C (p.Arg2172Pro) c.6449G>C (p.Arg2150Pro) c.6512G>C (p.Arg2171Pro) c.6509G>C (p.Arg2170Pro) c.6455G>C (p.Arg2152Pro) c.6380G>C (p.Arg2127Pro) c.5975G>C (p.Arg1992Pro) c.5333G>C (p.Arg1778Pro) c.2843G>C (p.Arg948Pro) n.6758G>C | dbSNP gnomAD v4 |
| 10 | g.71793248G= | CA1918874173 | CDH23 | c.6320G= (p.Arg2107=) c.6335G= (p.Arg2112=) c.6515G= (p.Arg2172=) c.6449G= (p.Arg2150=) c.6512G= (p.Arg2171=) c.6509G= (p.Arg2170=) c.6455G= (p.Arg2152=) c.6380G= (p.Arg2127=) c.5975G= (p.Arg1992=) c.5333G= (p.Arg1778=) c.2843G= (p.Arg948=) n.6758G= | |
| 10 | g.71793248G>T | CA377154284 | CDH23 | c.6320G>T (p.Arg2107Leu) c.6335G>T (p.Arg2112Leu) c.6515G>T (p.Arg2172Leu) c.6449G>T (p.Arg2150Leu) c.6512G>T (p.Arg2171Leu) c.6509G>T (p.Arg2170Leu) c.6455G>T (p.Arg2152Leu) c.6380G>T (p.Arg2127Leu) c.5975G>T (p.Arg1992Leu) c.5333G>T (p.Arg1778Leu) c.2843G>T (p.Arg948Leu) n.6758G>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.71793250A= | CA1918874177 | CDH23 | c.6322A= (p.Ile2108=) c.6337A= (p.Ile2113=) c.6517A= (p.Ile2173=) c.6451A= (p.Ile2151=) c.6514A= (p.Ile2172=) c.6511A= (p.Ile2171=) c.6457A= (p.Ile2153=) c.6382A= (p.Ile2128=) c.5977A= (p.Ile1993=) c.5335A= (p.Ile1779=) c.2845A= (p.Ile949=) n.6760A= | |
| 10 | g.71793250A>C | CA377154287 | CDH23 | c.6322A>C (p.Ile2108Leu) c.6337A>C (p.Ile2113Leu) c.6517A>C (p.Ile2173Leu) c.6451A>C (p.Ile2151Leu) c.6514A>C (p.Ile2172Leu) c.6511A>C (p.Ile2171Leu) c.6457A>C (p.Ile2153Leu) c.6382A>C (p.Ile2128Leu) c.5977A>C (p.Ile1993Leu) c.5335A>C (p.Ile1779Leu) c.2845A>C (p.Ile949Leu) n.6760A>C | |
| 10 | g.71793250A>G | CA377154294 | CDH23 | c.6322A>G (p.Ile2108Val) c.6337A>G (p.Ile2113Val) c.6517A>G (p.Ile2173Val) c.6451A>G (p.Ile2151Val) c.6514A>G (p.Ile2172Val) c.6511A>G (p.Ile2171Val) c.6457A>G (p.Ile2153Val) c.6382A>G (p.Ile2128Val) c.5977A>G (p.Ile1993Val) c.5335A>G (p.Ile1779Val) c.2845A>G (p.Ile949Val) n.6760A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71793250A>T | CA377154295 | CDH23 | c.6322A>T (p.Ile2108Leu) c.6337A>T (p.Ile2113Leu) c.6517A>T (p.Ile2173Leu) c.6451A>T (p.Ile2151Leu) c.6514A>T (p.Ile2172Leu) c.6511A>T (p.Ile2171Leu) c.6457A>T (p.Ile2153Leu) c.6382A>T (p.Ile2128Leu) c.5977A>T (p.Ile1993Leu) c.5335A>T (p.Ile1779Leu) c.2845A>T (p.Ile949Leu) n.6760A>T | |
| 10 | g.71793251T>A | CA377154296 | CDH23 | c.6323T>A (p.Ile2108Lys) c.6338T>A (p.Ile2113Lys) c.6518T>A (p.Ile2173Lys) c.6452T>A (p.Ile2151Lys) c.6515T>A (p.Ile2172Lys) c.6512T>A (p.Ile2171Lys) c.6458T>A (p.Ile2153Lys) c.6383T>A (p.Ile2128Lys) c.5978T>A (p.Ile1993Lys) c.5336T>A (p.Ile1779Lys) c.2846T>A (p.Ile949Lys) n.6761T>A | dbSNP |
| 10 | g.71793251T>C | CA377154298 | CDH23 | c.6323T>C (p.Ile2108Thr) c.6338T>C (p.Ile2113Thr) c.6518T>C (p.Ile2173Thr) c.6452T>C (p.Ile2151Thr) c.6515T>C (p.Ile2172Thr) c.6512T>C (p.Ile2171Thr) c.6458T>C (p.Ile2153Thr) c.6383T>C (p.Ile2128Thr) c.5978T>C (p.Ile1993Thr) c.5336T>C (p.Ile1779Thr) c.2846T>C (p.Ile949Thr) n.6761T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793251T>G | CA377154297 | CDH23 | c.6323T>G (p.Ile2108Arg) c.6338T>G (p.Ile2113Arg) c.6518T>G (p.Ile2173Arg) c.6452T>G (p.Ile2151Arg) c.6515T>G (p.Ile2172Arg) c.6512T>G (p.Ile2171Arg) c.6458T>G (p.Ile2153Arg) c.6383T>G (p.Ile2128Arg) c.5978T>G (p.Ile1993Arg) c.5336T>G (p.Ile1779Arg) c.2846T>G (p.Ile949Arg) n.6761T>G | |
| 10 | g.71793251T= | CA1918874179 | CDH23 | c.6323T= (p.Ile2108=) c.6338T= (p.Ile2113=) c.6518T= (p.Ile2173=) c.6452T= (p.Ile2151=) c.6515T= (p.Ile2172=) c.6512T= (p.Ile2171=) c.6458T= (p.Ile2153=) c.6383T= (p.Ile2128=) c.5978T= (p.Ile1993=) c.5336T= (p.Ile1779=) c.2846T= (p.Ile949=) n.6761T= | |
| 10 | g.71793252A>G | CA377154300 | CDH23 | c.6324A>G (p.Ile2108Met) c.6339A>G (p.Ile2113Met) c.6519A>G (p.Ile2173Met) c.6453A>G (p.Ile2151Met) c.6516A>G (p.Ile2172Met) c.6513A>G (p.Ile2171Met) c.6459A>G (p.Ile2153Met) c.6384A>G (p.Ile2128Met) c.5979A>G (p.Ile1993Met) c.5337A>G (p.Ile1779Met) c.2847A>G (p.Ile949Met) n.6762A>G | |
| 10 | g.71793253G>A | CA377154309 | CDH23 | c.6325G>A (p.Glu2109Lys) c.6340G>A (p.Glu2114Lys) c.6520G>A (p.Glu2174Lys) c.6454G>A (p.Glu2152Lys) c.6517G>A (p.Glu2173Lys) c.6514G>A (p.Glu2172Lys) c.6460G>A (p.Glu2154Lys) c.6385G>A (p.Glu2129Lys) c.5980G>A (p.Glu1994Lys) c.5338G>A (p.Glu1780Lys) c.2848G>A (p.Glu950Lys) n.6763G>A | |
| 10 | g.71793253G>C | CA377154312 | CDH23 | c.6325G>C (p.Glu2109Gln) c.6340G>C (p.Glu2114Gln) c.6520G>C (p.Glu2174Gln) c.6454G>C (p.Glu2152Gln) c.6517G>C (p.Glu2173Gln) c.6514G>C (p.Glu2172Gln) c.6460G>C (p.Glu2154Gln) c.6385G>C (p.Glu2129Gln) c.5980G>C (p.Glu1994Gln) c.5338G>C (p.Glu1780Gln) c.2848G>C (p.Glu950Gln) n.6763G>C | |
| 10 | g.71793253G>T | CA377154315 | CDH23 | c.6325G>T (p.Glu2109Ter) c.6340G>T (p.Glu2114Ter) c.6520G>T (p.Glu2174Ter) c.6454G>T (p.Glu2152Ter) c.6517G>T (p.Glu2173Ter) c.6514G>T (p.Glu2172Ter) c.6460G>T (p.Glu2154Ter) c.6385G>T (p.Glu2129Ter) c.5980G>T (p.Glu1994Ter) c.5338G>T (p.Glu1780Ter) c.2848G>T (p.Glu950Ter) n.6763G>T | |
| 10 | g.71793254A>C | CA377154317 | CDH23 | c.6326A>C (p.Glu2109Ala) c.6341A>C (p.Glu2114Ala) c.6521A>C (p.Glu2174Ala) c.6455A>C (p.Glu2152Ala) c.6518A>C (p.Glu2173Ala) c.6515A>C (p.Glu2172Ala) c.6461A>C (p.Glu2154Ala) c.6386A>C (p.Glu2129Ala) c.5981A>C (p.Glu1994Ala) c.5339A>C (p.Glu1780Ala) c.2849A>C (p.Glu950Ala) n.6764A>C | |
| 10 | g.71793254A>G | CA377154319 | CDH23 | c.6326A>G (p.Glu2109Gly) c.6341A>G (p.Glu2114Gly) c.6521A>G (p.Glu2174Gly) c.6455A>G (p.Glu2152Gly) c.6518A>G (p.Glu2173Gly) c.6515A>G (p.Glu2172Gly) c.6461A>G (p.Glu2154Gly) c.6386A>G (p.Glu2129Gly) c.5981A>G (p.Glu1994Gly) c.5339A>G (p.Glu1780Gly) c.2849A>G (p.Glu950Gly) n.6764A>G | gnomAD v4 |