UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | ClinVar |
| 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 |
| 10 | g.71793254A>T | CA377154321 | CDH23 | c.6326A>T (p.Glu2109Val) c.6341A>T (p.Glu2114Val) c.6521A>T (p.Glu2174Val) c.6455A>T (p.Glu2152Val) c.6518A>T (p.Glu2173Val) c.6515A>T (p.Glu2172Val) c.6461A>T (p.Glu2154Val) c.6386A>T (p.Glu2129Val) c.5981A>T (p.Glu1994Val) c.5339A>T (p.Glu1780Val) c.2849A>T (p.Glu950Val) n.6764A>T | |
| 10 | g.71793255A>C | CA377154323 | CDH23 | c.6327A>C (p.Glu2109Asp) c.6342A>C (p.Glu2114Asp) c.6522A>C (p.Glu2174Asp) c.6456A>C (p.Glu2152Asp) c.6519A>C (p.Glu2173Asp) c.6516A>C (p.Glu2172Asp) c.6462A>C (p.Glu2154Asp) c.6387A>C (p.Glu2129Asp) c.5982A>C (p.Glu1994Asp) c.5340A>C (p.Glu1780Asp) c.2850A>C (p.Glu950Asp) n.6765A>C | |
| 10 | g.71793255A>T | CA377154327 | CDH23 | c.6327A>T (p.Glu2109Asp) c.6342A>T (p.Glu2114Asp) c.6522A>T (p.Glu2174Asp) c.6456A>T (p.Glu2152Asp) c.6519A>T (p.Glu2173Asp) c.6516A>T (p.Glu2172Asp) c.6462A>T (p.Glu2154Asp) c.6387A>T (p.Glu2129Asp) c.5982A>T (p.Glu1994Asp) c.5340A>T (p.Glu1780Asp) c.2850A>T (p.Glu950Asp) n.6765A>T | |
| 10 | g.71793256G>A | CA5546055 | CDH23 | c.6328G>A (p.Ala2110Thr) c.6343G>A (p.Ala2115Thr) c.6523G>A (p.Ala2175Thr) c.6457G>A (p.Ala2153Thr) c.6520G>A (p.Ala2174Thr) c.6517G>A (p.Ala2173Thr) c.6463G>A (p.Ala2155Thr) c.6388G>A (p.Ala2130Thr) c.5983G>A (p.Ala1995Thr) c.5341G>A (p.Ala1781Thr) c.2851G>A (p.Ala951Thr) n.6766G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793256G>C | CA377154334 | CDH23 | c.6328G>C (p.Ala2110Pro) c.6343G>C (p.Ala2115Pro) c.6523G>C (p.Ala2175Pro) c.6457G>C (p.Ala2153Pro) c.6520G>C (p.Ala2174Pro) c.6517G>C (p.Ala2173Pro) c.6463G>C (p.Ala2155Pro) c.6388G>C (p.Ala2130Pro) c.5983G>C (p.Ala1995Pro) c.5341G>C (p.Ala1781Pro) c.2851G>C (p.Ala951Pro) n.6766G>C | dbSNP gnomAD v4 |
| 10 | g.71793256G= | CA1918874180 | CDH23 | c.6328G= (p.Ala2110=) c.6343G= (p.Ala2115=) c.6523G= (p.Ala2175=) c.6457G= (p.Ala2153=) c.6520G= (p.Ala2174=) c.6517G= (p.Ala2173=) c.6463G= (p.Ala2155=) c.6388G= (p.Ala2130=) c.5983G= (p.Ala1995=) c.5341G= (p.Ala1781=) c.2851G= (p.Ala951=) n.6766G= | |
| 10 | g.71793256G>T | CA377154330 | CDH23 | c.6328G>T (p.Ala2110Ser) c.6343G>T (p.Ala2115Ser) c.6523G>T (p.Ala2175Ser) c.6457G>T (p.Ala2153Ser) c.6520G>T (p.Ala2174Ser) c.6517G>T (p.Ala2173Ser) c.6463G>T (p.Ala2155Ser) c.6388G>T (p.Ala2130Ser) c.5983G>T (p.Ala1995Ser) c.5341G>T (p.Ala1781Ser) c.2851G>T (p.Ala951Ser) n.6766G>T | |
| 10 | g.71793257C>A | CA377154336 | CDH23 | c.6329C>A (p.Ala2110Asp) c.6344C>A (p.Ala2115Asp) c.6524C>A (p.Ala2175Asp) c.6458C>A (p.Ala2153Asp) c.6521C>A (p.Ala2174Asp) c.6518C>A (p.Ala2173Asp) c.6464C>A (p.Ala2155Asp) c.6389C>A (p.Ala2130Asp) c.5984C>A (p.Ala1995Asp) c.5342C>A (p.Ala1781Asp) c.2852C>A (p.Ala951Asp) n.6767C>A | |
| 10 | g.71793257C= | CA1918874182 | CDH23 | c.6329C= (p.Ala2110=) c.6344C= (p.Ala2115=) c.6524C= (p.Ala2175=) c.6458C= (p.Ala2153=) c.6521C= (p.Ala2174=) c.6518C= (p.Ala2173=) c.6464C= (p.Ala2155=) c.6389C= (p.Ala2130=) c.5984C= (p.Ala1995=) c.5342C= (p.Ala1781=) c.2852C= (p.Ala951=) n.6767C= | |
| 10 | g.71793257C>G | CA377154338 | CDH23 | c.6329C>G (p.Ala2110Gly) c.6344C>G (p.Ala2115Gly) c.6524C>G (p.Ala2175Gly) c.6458C>G (p.Ala2153Gly) c.6521C>G (p.Ala2174Gly) c.6518C>G (p.Ala2173Gly) c.6464C>G (p.Ala2155Gly) c.6389C>G (p.Ala2130Gly) c.5984C>G (p.Ala1995Gly) c.5342C>G (p.Ala1781Gly) c.2852C>G (p.Ala951Gly) n.6767C>G | |
| 10 | g.71793257C>T | CA137531 | CDH23 | c.6329C>T (p.Ala2110Val) c.6344C>T (p.Ala2115Val) c.6524C>T (p.Ala2175Val) c.6458C>T (p.Ala2153Val) c.6521C>T (p.Ala2174Val) c.6518C>T (p.Ala2173Val) c.6464C>T (p.Ala2155Val) c.6389C>T (p.Ala2130Val) c.5984C>T (p.Ala1995Val) c.5342C>T (p.Ala1781Val) c.2852C>T (p.Ala951Val) n.6767C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793258T>G | CA209465999 | CDH23 | c.6330T>G (p.Ala2110=) c.6345T>G (p.Ala2115=) c.6525T>G (p.Ala2175=) c.6459T>G (p.Ala2153=) c.6522T>G (p.Ala2174=) c.6519T>G (p.Ala2173=) c.6465T>G (p.Ala2155=) c.6390T>G (p.Ala2130=) c.5985T>G (p.Ala1995=) c.5343T>G (p.Ala1781=) c.2853T>G (p.Ala951=) n.6768T>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71793258T= | CA1918874184 | CDH23 | c.6330T= (p.Ala2110=) c.6345T= (p.Ala2115=) c.6525T= (p.Ala2175=) c.6459T= (p.Ala2153=) c.6522T= (p.Ala2174=) c.6519T= (p.Ala2173=) c.6465T= (p.Ala2155=) c.6390T= (p.Ala2130=) c.5985T= (p.Ala1995=) c.5343T= (p.Ala1781=) c.2853T= (p.Ala951=) n.6768T= | |
| 10 | g.71793259G>A | CA377154348 | CDH23 | c.6331G>A (p.Gly2111Arg) c.6346G>A (p.Gly2116Arg) c.6526G>A (p.Gly2176Arg) c.6460G>A (p.Gly2154Arg) c.6523G>A (p.Gly2175Arg) c.6520G>A (p.Gly2174Arg) c.6466G>A (p.Gly2156Arg) c.6391G>A (p.Gly2131Arg) c.5986G>A (p.Gly1996Arg) c.5344G>A (p.Gly1782Arg) c.2854G>A (p.Gly952Arg) n.6769G>A | dbSNP |
| 10 | g.71793259G>C | CA377154352 | CDH23 | c.6331G>C (p.Gly2111Arg) c.6346G>C (p.Gly2116Arg) c.6526G>C (p.Gly2176Arg) c.6460G>C (p.Gly2154Arg) c.6523G>C (p.Gly2175Arg) c.6520G>C (p.Gly2174Arg) c.6466G>C (p.Gly2156Arg) c.6391G>C (p.Gly2131Arg) c.5986G>C (p.Gly1996Arg) c.5344G>C (p.Gly1782Arg) c.2854G>C (p.Gly952Arg) n.6769G>C | dbSNP |
| 10 | g.71793259G>T | CA377154357 | CDH23 | c.6331G>T (p.Gly2111Trp) c.6346G>T (p.Gly2116Trp) c.6526G>T (p.Gly2176Trp) c.6460G>T (p.Gly2154Trp) c.6523G>T (p.Gly2175Trp) c.6520G>T (p.Gly2174Trp) c.6466G>T (p.Gly2156Trp) c.6391G>T (p.Gly2131Trp) c.5986G>T (p.Gly1996Trp) c.5344G>T (p.Gly1782Trp) c.2854G>T (p.Gly952Trp) n.6769G>T | |
| 10 | g.71793262del | CA2609580382 | CDH23 | c.6334del (p.Ala2112LeufsTer?) c.6349del (p.Ala2117LeufsTer?) c.6529del (p.Ala2177LeufsTer?) c.6463del (p.Ala2155LeufsTer?) c.6526del (p.Ala2176LeufsTer?) c.6523del (p.Ala2175LeufsTer?) c.6469del (p.Ala2157LeufsTer?) c.6529del (p.Ala2177LeufsTer22) c.6394del (p.Ala2132LeufsTer?) c.5989del (p.Ala1997LeufsTer?) c.5347del (p.Ala1783LeufsTer?) c.2857del (p.Ala953LeufsTer?) n.6772del | gnomAD v4 |
| 10 | g.71793260G>A | CA377154360 | CDH23 | c.6332G>A (p.Gly2111Glu) c.6347G>A (p.Gly2116Glu) c.6527G>A (p.Gly2176Glu) c.6461G>A (p.Gly2154Glu) c.6524G>A (p.Gly2175Glu) c.6521G>A (p.Gly2174Glu) c.6467G>A (p.Gly2156Glu) c.6392G>A (p.Gly2131Glu) c.5987G>A (p.Gly1996Glu) c.5345G>A (p.Gly1782Glu) c.2855G>A (p.Gly952Glu) n.6770G>A | dbSNP gnomAD v4 |
| 10 | g.71793260G>C | CA377154362 | CDH23 | c.6332G>C (p.Gly2111Ala) c.6347G>C (p.Gly2116Ala) c.6527G>C (p.Gly2176Ala) c.6461G>C (p.Gly2154Ala) c.6524G>C (p.Gly2175Ala) c.6521G>C (p.Gly2174Ala) c.6467G>C (p.Gly2156Ala) c.6392G>C (p.Gly2131Ala) c.5987G>C (p.Gly1996Ala) c.5345G>C (p.Gly1782Ala) c.2855G>C (p.Gly952Ala) n.6770G>C | |
| 10 | g.71793260G>T | CA377154363 | CDH23 | c.6332G>T (p.Gly2111Val) c.6347G>T (p.Gly2116Val) c.6527G>T (p.Gly2176Val) c.6461G>T (p.Gly2154Val) c.6524G>T (p.Gly2175Val) c.6521G>T (p.Gly2174Val) c.6467G>T (p.Gly2156Val) c.6392G>T (p.Gly2131Val) c.5987G>T (p.Gly1996Val) c.5345G>T (p.Gly1782Val) c.2855G>T (p.Gly952Val) n.6770G>T | |
| 10 | g.71793261G>A | CA5546056 | CDH23 | c.6333G>A (p.Gly2111=) c.6348G>A (p.Gly2116=) c.6528G>A (p.Gly2176=) c.6462G>A (p.Gly2154=) c.6525G>A (p.Gly2175=) c.6522G>A (p.Gly2174=) c.6468G>A (p.Gly2156=) c.6393G>A (p.Gly2131=) c.5988G>A (p.Gly1996=) c.5346G>A (p.Gly1782=) c.2856G>A (p.Gly952=) n.6771G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793261G= | CA1918874186 | CDH23 | c.6333G= (p.Gly2111=) c.6348G= (p.Gly2116=) c.6528G= (p.Gly2176=) c.6462G= (p.Gly2154=) c.6525G= (p.Gly2175=) c.6522G= (p.Gly2174=) c.6468G= (p.Gly2156=) c.6393G= (p.Gly2131=) c.5988G= (p.Gly1996=) c.5346G= (p.Gly1782=) c.2856G= (p.Gly952=) n.6771G= | |
| 10 | g.71793262G>A | CA5546057 | CDH23 | c.6334G>A (p.Ala2112Thr) c.6349G>A (p.Ala2117Thr) c.6529G>A (p.Ala2177Thr) c.6463G>A (p.Ala2155Thr) c.6526G>A (p.Ala2176Thr) c.6523G>A (p.Ala2175Thr) c.6469G>A (p.Ala2157Thr) c.6394G>A (p.Ala2132Thr) c.5989G>A (p.Ala1997Thr) c.5347G>A (p.Ala1783Thr) c.2857G>A (p.Ala953Thr) n.6772G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793262G>C | CA377154374 | CDH23 | c.6334G>C (p.Ala2112Pro) c.6349G>C (p.Ala2117Pro) c.6529G>C (p.Ala2177Pro) c.6463G>C (p.Ala2155Pro) c.6526G>C (p.Ala2176Pro) c.6523G>C (p.Ala2175Pro) c.6469G>C (p.Ala2157Pro) c.6394G>C (p.Ala2132Pro) c.5989G>C (p.Ala1997Pro) c.5347G>C (p.Ala1783Pro) c.2857G>C (p.Ala953Pro) n.6772G>C | |
| 10 | g.71793262G= | CA1918874190 | CDH23 | c.6334G= (p.Ala2112=) c.6349G= (p.Ala2117=) c.6529G= (p.Ala2177=) c.6463G= (p.Ala2155=) c.6526G= (p.Ala2176=) c.6523G= (p.Ala2175=) c.6469G= (p.Ala2157=) c.6394G= (p.Ala2132=) c.5989G= (p.Ala1997=) c.5347G= (p.Ala1783=) c.2857G= (p.Ala953=) n.6772G= | |
| 10 | g.71793262G>T | CA377154376 | CDH23 | c.6334G>T (p.Ala2112Ser) c.6349G>T (p.Ala2117Ser) c.6529G>T (p.Ala2177Ser) c.6463G>T (p.Ala2155Ser) c.6526G>T (p.Ala2176Ser) c.6523G>T (p.Ala2175Ser) c.6469G>T (p.Ala2157Ser) c.6394G>T (p.Ala2132Ser) c.5989G>T (p.Ala1997Ser) c.5347G>T (p.Ala1783Ser) c.2857G>T (p.Ala953Ser) n.6772G>T | gnomAD v4 |
| 10 | g.71793263C>A | CA377154389 | CDH23 | c.6335C>A (p.Ala2112Asp) c.6350C>A (p.Ala2117Asp) c.6530C>A (p.Ala2177Asp) c.6464C>A (p.Ala2155Asp) c.6527C>A (p.Ala2176Asp) c.6524C>A (p.Ala2175Asp) c.6470C>A (p.Ala2157Asp) c.6395C>A (p.Ala2132Asp) c.5990C>A (p.Ala1997Asp) c.5348C>A (p.Ala1783Asp) c.2858C>A (p.Ala953Asp) n.6773C>A | |
| 10 | g.71793263C= | CA1918874193 | CDH23 | c.6335C= (p.Ala2112=) c.6350C= (p.Ala2117=) c.6530C= (p.Ala2177=) c.6464C= (p.Ala2155=) c.6527C= (p.Ala2176=) c.6524C= (p.Ala2175=) c.6470C= (p.Ala2157=) c.6395C= (p.Ala2132=) c.5990C= (p.Ala1997=) c.5348C= (p.Ala1783=) c.2858C= (p.Ala953=) n.6773C= | |
| 10 | g.71793263C>G | CA377154379 | CDH23 | c.6335C>G (p.Ala2112Gly) c.6350C>G (p.Ala2117Gly) c.6530C>G (p.Ala2177Gly) c.6464C>G (p.Ala2155Gly) c.6527C>G (p.Ala2176Gly) c.6524C>G (p.Ala2175Gly) c.6470C>G (p.Ala2157Gly) c.6395C>G (p.Ala2132Gly) c.5990C>G (p.Ala1997Gly) c.5348C>G (p.Ala1783Gly) c.2858C>G (p.Ala953Gly) n.6773C>G | |
| 10 | g.71793263C>T | CA377154387 | CDH23 | c.6335C>T (p.Ala2112Val) c.6350C>T (p.Ala2117Val) c.6530C>T (p.Ala2177Val) c.6464C>T (p.Ala2155Val) c.6527C>T (p.Ala2176Val) c.6524C>T (p.Ala2175Val) c.6470C>T (p.Ala2157Val) c.6395C>T (p.Ala2132Val) c.5990C>T (p.Ala1997Val) c.5348C>T (p.Ala1783Val) c.2858C>T (p.Ala953Val) n.6773C>T | dbSNP |
| 10 | g.71793264T>A | CA2722285582 | CDH23 | c.6336T>A (p.Ala2112=) c.6351T>A (p.Ala2117=) c.6531T>A (p.Ala2177=) c.6465T>A (p.Ala2155=) c.6528T>A (p.Ala2176=) c.6525T>A (p.Ala2175=) c.6471T>A (p.Ala2157=) c.6396T>A (p.Ala2132=) c.5991T>A (p.Ala1997=) c.5349T>A (p.Ala1783=) c.2859T>A (p.Ala953=) n.6774T>A | dbSNP |
| 10 | g.71793264T>C | CA2697558461 | CDH23 | c.6336T>C (p.Ala2112=) c.6351T>C (p.Ala2117=) c.6531T>C (p.Ala2177=) c.6465T>C (p.Ala2155=) c.6528T>C (p.Ala2176=) c.6525T>C (p.Ala2175=) c.6471T>C (p.Ala2157=) c.6396T>C (p.Ala2132=) c.5991T>C (p.Ala1997=) c.5349T>C (p.Ala1783=) c.2859T>C (p.Ala953=) n.6774T>C | ClinVar |
| 10 | g.71793265C>A | CA377154400 | CDH23 | c.6337C>A (p.Gln2113Lys) c.6352C>A (p.Gln2118Lys) c.6532C>A (p.Gln2178Lys) c.6466C>A (p.Gln2156Lys) c.6529C>A (p.Gln2177Lys) c.6526C>A (p.Gln2176Lys) c.6472C>A (p.Gln2158Lys) c.6397C>A (p.Gln2133Lys) c.5992C>A (p.Gln1998Lys) c.5350C>A (p.Gln1784Lys) c.2860C>A (p.Gln954Lys) n.6775C>A | dbSNP |
| 10 | g.71793265C= | CA1918874194 | CDH23 | c.6337C= (p.Gln2113=) c.6352C= (p.Gln2118=) c.6532C= (p.Gln2178=) c.6466C= (p.Gln2156=) c.6529C= (p.Gln2177=) c.6526C= (p.Gln2176=) c.6472C= (p.Gln2158=) c.6397C= (p.Gln2133=) c.5992C= (p.Gln1998=) c.5350C= (p.Gln1784=) c.2860C= (p.Gln954=) n.6775C= | |
| 10 | g.71793265C>G | CA377154407 | CDH23 | c.6337C>G (p.Gln2113Glu) c.6352C>G (p.Gln2118Glu) c.6532C>G (p.Gln2178Glu) c.6466C>G (p.Gln2156Glu) c.6529C>G (p.Gln2177Glu) c.6526C>G (p.Gln2176Glu) c.6472C>G (p.Gln2158Glu) c.6397C>G (p.Gln2133Glu) c.5992C>G (p.Gln1998Glu) c.5350C>G (p.Gln1784Glu) c.2860C>G (p.Gln954Glu) n.6775C>G | |
| 10 | g.71793265C>T | CA5546058 | CDH23 | c.6337C>T (p.Gln2113Ter) c.6352C>T (p.Gln2118Ter) c.6532C>T (p.Gln2178Ter) c.6466C>T (p.Gln2156Ter) c.6529C>T (p.Gln2177Ter) c.6526C>T (p.Gln2176Ter) c.6472C>T (p.Gln2158Ter) c.6397C>T (p.Gln2133Ter) c.5992C>T (p.Gln1998Ter) c.5350C>T (p.Gln1784Ter) c.2860C>T (p.Gln954Ter) n.6775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793266A= | CA1918874196 | CDH23 | c.6338A= (p.Gln2113=) c.6353A= (p.Gln2118=) c.6533A= (p.Gln2178=) c.6467A= (p.Gln2156=) c.6530A= (p.Gln2177=) c.6527A= (p.Gln2176=) c.6473A= (p.Gln2158=) c.6398A= (p.Gln2133=) c.5993A= (p.Gln1998=) c.5351A= (p.Gln1784=) c.2861A= (p.Gln954=) n.6776A= | |
| 10 | g.71793266A>C | CA377154411 | CDH23 | c.6338A>C (p.Gln2113Pro) c.6353A>C (p.Gln2118Pro) c.6533A>C (p.Gln2178Pro) c.6467A>C (p.Gln2156Pro) c.6530A>C (p.Gln2177Pro) c.6527A>C (p.Gln2176Pro) c.6473A>C (p.Gln2158Pro) c.6398A>C (p.Gln2133Pro) c.5993A>C (p.Gln1998Pro) c.5351A>C (p.Gln1784Pro) c.2861A>C (p.Gln954Pro) n.6776A>C | |
| 10 | g.71793266A>G | CA377154412 | CDH23 | c.6338A>G (p.Gln2113Arg) c.6353A>G (p.Gln2118Arg) c.6533A>G (p.Gln2178Arg) c.6467A>G (p.Gln2156Arg) c.6530A>G (p.Gln2177Arg) c.6527A>G (p.Gln2176Arg) c.6473A>G (p.Gln2158Arg) c.6398A>G (p.Gln2133Arg) c.5993A>G (p.Gln1998Arg) c.5351A>G (p.Gln1784Arg) c.2861A>G (p.Gln954Arg) n.6776A>G | dbSNP gnomAD v4 |
| 10 | g.71793266A>T | CA209466001 | CDH23 | c.6338A>T (p.Gln2113Leu) c.6353A>T (p.Gln2118Leu) c.6533A>T (p.Gln2178Leu) c.6467A>T (p.Gln2156Leu) c.6530A>T (p.Gln2177Leu) c.6527A>T (p.Gln2176Leu) c.6473A>T (p.Gln2158Leu) c.6398A>T (p.Gln2133Leu) c.5993A>T (p.Gln1998Leu) c.5351A>T (p.Gln1784Leu) c.2861A>T (p.Gln954Leu) n.6776A>T | dbSNP |
| 10 | g.71793267G>A | CA2580081859 | CDH23 | c.6339G>A (p.Gln2113=) c.6354G>A (p.Gln2118=) c.6534G>A (p.Gln2178=) c.6468G>A (p.Gln2156=) c.6531G>A (p.Gln2177=) c.6528G>A (p.Gln2176=) c.6474G>A (p.Gln2158=) c.6399G>A (p.Gln2133=) c.5994G>A (p.Gln1998=) c.5352G>A (p.Gln1784=) c.2862G>A (p.Gln954=) n.6777G>A | ClinVar |
| 10 | g.71793267G>C | CA377154421 | CDH23 | c.6339G>C (p.Gln2113His) c.6354G>C (p.Gln2118His) c.6534G>C (p.Gln2178His) c.6468G>C (p.Gln2156His) c.6531G>C (p.Gln2177His) c.6528G>C (p.Gln2176His) c.6474G>C (p.Gln2158His) c.6399G>C (p.Gln2133His) c.5994G>C (p.Gln1998His) c.5352G>C (p.Gln1784His) c.2862G>C (p.Gln954His) n.6777G>C | |
| 10 | g.71793267G>T | CA377154424 | CDH23 | c.6339G>T (p.Gln2113His) c.6354G>T (p.Gln2118His) c.6534G>T (p.Gln2178His) c.6468G>T (p.Gln2156His) c.6531G>T (p.Gln2177His) c.6528G>T (p.Gln2176His) c.6474G>T (p.Gln2158His) c.6399G>T (p.Gln2133His) c.5994G>T (p.Gln1998His) c.5352G>T (p.Gln1784His) c.2862G>T (p.Gln954His) n.6777G>T | |
| 10 | g.71793268G>A | CA209466006 | CDH23 | c.6340G>A (p.Asp2114Asn) c.6355G>A (p.Asp2119Asn) c.6535G>A (p.Asp2179Asn) c.6469G>A (p.Asp2157Asn) c.6532G>A (p.Asp2178Asn) c.6529G>A (p.Asp2177Asn) c.6475G>A (p.Asp2159Asn) c.6400G>A (p.Asp2134Asn) c.5995G>A (p.Asp1999Asn) c.5353G>A (p.Asp1785Asn) c.2863G>A (p.Asp955Asn) n.6778G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |