WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.71793270C>A | CA377154435 | CDH23 | c.6342C>A (p.Asp2114Glu) c.6357C>A (p.Asp2119Glu) c.6537C>A (p.Asp2179Glu) c.6471C>A (p.Asp2157Glu) c.6534C>A (p.Asp2178Glu) c.6531C>A (p.Asp2177Glu) c.6477C>A (p.Asp2159Glu) c.6402C>A (p.Asp2134Glu) c.5997C>A (p.Asp1999Glu) c.5355C>A (p.Asp1785Glu) c.2865C>A (p.Asp955Glu) n.6780C>A | dbSNP |
| 10 | g.71793270C>G | CA377154437 | CDH23 | c.6342C>G (p.Asp2114Glu) c.6357C>G (p.Asp2119Glu) c.6537C>G (p.Asp2179Glu) c.6471C>G (p.Asp2157Glu) c.6534C>G (p.Asp2178Glu) c.6531C>G (p.Asp2177Glu) c.6477C>G (p.Asp2159Glu) c.6402C>G (p.Asp2134Glu) c.5997C>G (p.Asp1999Glu) c.5355C>G (p.Asp1785Glu) c.2865C>G (p.Asp955Glu) n.6780C>G | |
| 10 | g.71793271C>A | CA377154440 | CDH23 | c.6343C>A (p.Arg2115Ser) c.6358C>A (p.Arg2120Ser) c.6538C>A (p.Arg2180Ser) c.6472C>A (p.Arg2158Ser) c.6535C>A (p.Arg2179Ser) c.6532C>A (p.Arg2178Ser) c.6478C>A (p.Arg2160Ser) c.6403C>A (p.Arg2135Ser) c.5998C>A (p.Arg2000Ser) c.5356C>A (p.Arg1786Ser) c.2866C>A (p.Arg956Ser) n.6781C>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.71793271C= | CA1918874200 | CDH23 | c.6343C= (p.Arg2115=) c.6358C= (p.Arg2120=) c.6538C= (p.Arg2180=) c.6472C= (p.Arg2158=) c.6535C= (p.Arg2179=) c.6532C= (p.Arg2178=) c.6478C= (p.Arg2160=) c.6403C= (p.Arg2135=) c.5998C= (p.Arg2000=) c.5356C= (p.Arg1786=) c.2866C= (p.Arg956=) n.6781C= | |
| 10 | g.71793271C>G | CA5546060 | CDH23 | c.6343C>G (p.Arg2115Gly) c.6358C>G (p.Arg2120Gly) c.6538C>G (p.Arg2180Gly) c.6472C>G (p.Arg2158Gly) c.6535C>G (p.Arg2179Gly) c.6532C>G (p.Arg2178Gly) c.6478C>G (p.Arg2160Gly) c.6403C>G (p.Arg2135Gly) c.5998C>G (p.Arg2000Gly) c.5356C>G (p.Arg1786Gly) c.2866C>G (p.Arg956Gly) n.6781C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793271C>T | CA5546059 | CDH23 | c.6343C>T (p.Arg2115Cys) c.6358C>T (p.Arg2120Cys) c.6538C>T (p.Arg2180Cys) c.6472C>T (p.Arg2158Cys) c.6535C>T (p.Arg2179Cys) c.6532C>T (p.Arg2178Cys) c.6478C>T (p.Arg2160Cys) c.6403C>T (p.Arg2135Cys) c.5998C>T (p.Arg2000Cys) c.5356C>T (p.Arg1786Cys) c.2866C>T (p.Arg956Cys) n.6781C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793271_71793272delinsCG | CA1918874202 | CDH23 | c.6343_6344delinsCG (p.Arg2115=) c.6358_6359delinsCG (p.Arg2120=) c.6538_6539delinsCG (p.Arg2180=) c.6472_6473delinsCG (p.Arg2158=) c.6535_6536delinsCG (p.Arg2179=) c.6532_6533delinsCG (p.Arg2178=) c.6478_6479delinsCG (p.Arg2160=) c.6403_6404delinsCG (p.Arg2135=) c.5998_5999delinsCG (p.Arg2000=) c.5356_5357delinsCG (p.Arg1786=) c.2866_2867delinsCG (p.Arg956=) n.6781_6782delinsCG | |
| 10 | g.71793272del | CA915945955 | CDH23 | c.6344del (p.Arg2115ProfsTer28) c.6359del (p.Arg2120ProfsTer28) c.6539del (p.Arg2180ProfsTer28) c.6473del (p.Arg2158ProfsTer28) c.6536del (p.Arg2179ProfsTer28) c.6533del (p.Arg2178ProfsTer28) c.6479del (p.Arg2160ProfsTer28) c.6539del (p.Arg2180ProfsTer19) c.6404del (p.Arg2135ProfsTer28) c.5999del (p.Arg2000ProfsTer28) c.5357del (p.Arg1786ProfsTer28) c.2867del (p.Arg956ProfsTer28) n.6782del | ClinVar dbSNP gnomAD v4 |
| 10 | g.71793272G>A | CA377154451 | CDH23 | c.6344G>A (p.Arg2115His) c.6359G>A (p.Arg2120His) c.6539G>A (p.Arg2180His) c.6473G>A (p.Arg2158His) c.6536G>A (p.Arg2179His) c.6533G>A (p.Arg2178His) c.6479G>A (p.Arg2160His) c.6404G>A (p.Arg2135His) c.5999G>A (p.Arg2000His) c.5357G>A (p.Arg1786His) c.2867G>A (p.Arg956His) n.6782G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793272G>C | CA377154452 | CDH23 | c.6344G>C (p.Arg2115Pro) c.6359G>C (p.Arg2120Pro) c.6539G>C (p.Arg2180Pro) c.6473G>C (p.Arg2158Pro) c.6536G>C (p.Arg2179Pro) c.6533G>C (p.Arg2178Pro) c.6479G>C (p.Arg2160Pro) c.6404G>C (p.Arg2135Pro) c.5999G>C (p.Arg2000Pro) c.5357G>C (p.Arg1786Pro) c.2867G>C (p.Arg956Pro) n.6782G>C | |
| 10 | g.71793272G= | CA1918874207 | CDH23 | c.6344G= (p.Arg2115=) c.6359G= (p.Arg2120=) c.6539G= (p.Arg2180=) c.6473G= (p.Arg2158=) c.6536G= (p.Arg2179=) c.6533G= (p.Arg2178=) c.6479G= (p.Arg2160=) c.6404G= (p.Arg2135=) c.5999G= (p.Arg2000=) c.5357G= (p.Arg1786=) c.2867G= (p.Arg956=) n.6782G= | |
| 10 | g.71793272G>T | CA377154454 | CDH23 | c.6344G>T (p.Arg2115Leu) c.6359G>T (p.Arg2120Leu) c.6539G>T (p.Arg2180Leu) c.6473G>T (p.Arg2158Leu) c.6536G>T (p.Arg2179Leu) c.6533G>T (p.Arg2178Leu) c.6479G>T (p.Arg2160Leu) c.6404G>T (p.Arg2135Leu) c.5999G>T (p.Arg2000Leu) c.5357G>T (p.Arg1786Leu) c.2867G>T (p.Arg956Leu) n.6782G>T | gnomAD v4 |
| 10 | g.71793272_71793273delinsGC | CA1918874208 | CDH23 | c.6344_6345delinsGC (p.Arg2115=) c.6359_6360delinsGC (p.Arg2120=) c.6539_6540delinsGC (p.Arg2180=) c.6473_6474delinsGC (p.Arg2158=) c.6536_6537delinsGC (p.Arg2179=) c.6533_6534delinsGC (p.Arg2178=) c.6479_6480delinsGC (p.Arg2160=) c.6404_6405delinsGC (p.Arg2135=) c.5999_6000delinsGC (p.Arg2000=) c.5357_5358delinsGC (p.Arg1786=) c.2867_2868delinsGC (p.Arg956=) n.6782_6783delinsGC | |
| 10 | g.71793273del | CA916083138 | CDH23 | c.6345del (p.Phe2116SerfsTer27) c.6360del (p.Phe2121SerfsTer27) c.6540del (p.Phe2181SerfsTer27) c.6474del (p.Phe2159SerfsTer27) c.6537del (p.Phe2180SerfsTer27) c.6534del (p.Phe2179SerfsTer27) c.6480del (p.Phe2161SerfsTer27) c.6540del (p.Phe2181SerfsTer18) c.6405del (p.Phe2136SerfsTer27) c.6000del (p.Phe2001SerfsTer27) c.5358del (p.Phe1787SerfsTer27) c.2868del (p.Phe957SerfsTer27) n.6783del | ClinVar dbSNP |
| 10 | g.71793273C>T | CA2609580403 | CDH23 | c.6345C>T (p.Arg2115=) c.6360C>T (p.Arg2120=) c.6540C>T (p.Arg2180=) c.6474C>T (p.Arg2158=) c.6537C>T (p.Arg2179=) c.6534C>T (p.Arg2178=) c.6480C>T (p.Arg2160=) c.6405C>T (p.Arg2135=) c.6000C>T (p.Arg2000=) c.5358C>T (p.Arg1786=) c.2868C>T (p.Arg956=) n.6783C>T | gnomAD v4 |
| 10 | g.71793274T>A | CA377154458 | CDH23 | c.6346T>A (p.Phe2116Ile) c.6361T>A (p.Phe2121Ile) c.6541T>A (p.Phe2181Ile) c.6475T>A (p.Phe2159Ile) c.6538T>A (p.Phe2180Ile) c.6535T>A (p.Phe2179Ile) c.6481T>A (p.Phe2161Ile) c.6406T>A (p.Phe2136Ile) c.6001T>A (p.Phe2001Ile) c.5359T>A (p.Phe1787Ile) c.2869T>A (p.Phe957Ile) n.6784T>A | |
| 10 | g.71793274T>C | CA377154460 | CDH23 | c.6346T>C (p.Phe2116Leu) c.6361T>C (p.Phe2121Leu) c.6541T>C (p.Phe2181Leu) c.6475T>C (p.Phe2159Leu) c.6538T>C (p.Phe2180Leu) c.6535T>C (p.Phe2179Leu) c.6481T>C (p.Phe2161Leu) c.6406T>C (p.Phe2136Leu) c.6001T>C (p.Phe2001Leu) c.5359T>C (p.Phe1787Leu) c.2869T>C (p.Phe957Leu) n.6784T>C | gnomAD v4 |
| 10 | g.71793274T>G | CA377154463 | CDH23 | c.6346T>G (p.Phe2116Val) c.6361T>G (p.Phe2121Val) c.6541T>G (p.Phe2181Val) c.6475T>G (p.Phe2159Val) c.6538T>G (p.Phe2180Val) c.6535T>G (p.Phe2179Val) c.6481T>G (p.Phe2161Val) c.6406T>G (p.Phe2136Val) c.6001T>G (p.Phe2001Val) c.5359T>G (p.Phe1787Val) c.2869T>G (p.Phe957Val) n.6784T>G | |
| 10 | g.71793274_71793275del | CA2695199527 | CDH23 | c.6346_6347del (p.Phe2116ProfsTer13) c.6361_6362del (p.Phe2121ProfsTer13) c.6541_6542del (p.Phe2181ProfsTer13) c.6475_6476del (p.Phe2159ProfsTer13) c.6538_6539del (p.Phe2180ProfsTer13) c.6535_6536del (p.Phe2179ProfsTer13) c.6481_6482del (p.Phe2161ProfsTer13) c.6541_6542del (p.Phe2181ProfsTer20) c.6406_6407del (p.Phe2136ProfsTer13) c.6001_6002del (p.Phe2001ProfsTer13) c.5359_5360del (p.Phe1787ProfsTer13) c.2869_2870del (p.Phe957ProfsTer13) n.6784_6785del | ClinVar |
| 10 | g.71793275T>A | CA377154465 | CDH23 | c.6347T>A (p.Phe2116Tyr) c.6362T>A (p.Phe2121Tyr) c.6542T>A (p.Phe2181Tyr) c.6476T>A (p.Phe2159Tyr) c.6539T>A (p.Phe2180Tyr) c.6536T>A (p.Phe2179Tyr) c.6482T>A (p.Phe2161Tyr) c.6407T>A (p.Phe2136Tyr) c.6002T>A (p.Phe2001Tyr) c.5360T>A (p.Phe1787Tyr) c.2870T>A (p.Phe957Tyr) n.6785T>A | |
| 10 | g.71793275T>C | CA377154466 | CDH23 | c.6347T>C (p.Phe2116Ser) c.6362T>C (p.Phe2121Ser) c.6542T>C (p.Phe2181Ser) c.6476T>C (p.Phe2159Ser) c.6539T>C (p.Phe2180Ser) c.6536T>C (p.Phe2179Ser) c.6482T>C (p.Phe2161Ser) c.6407T>C (p.Phe2136Ser) c.6002T>C (p.Phe2001Ser) c.5360T>C (p.Phe1787Ser) c.2870T>C (p.Phe957Ser) n.6785T>C | |
| 10 | g.71793275T>G | CA377154468 | CDH23 | c.6347T>G (p.Phe2116Cys) c.6362T>G (p.Phe2121Cys) c.6542T>G (p.Phe2181Cys) c.6476T>G (p.Phe2159Cys) c.6539T>G (p.Phe2180Cys) c.6536T>G (p.Phe2179Cys) c.6482T>G (p.Phe2161Cys) c.6407T>G (p.Phe2136Cys) c.6002T>G (p.Phe2001Cys) c.5360T>G (p.Phe1787Cys) c.2870T>G (p.Phe957Cys) n.6785T>G | |
| 10 | g.71793276C>A | CA377154471 | CDH23 | c.6348C>A (p.Phe2116Leu) c.6363C>A (p.Phe2121Leu) c.6543C>A (p.Phe2181Leu) c.6477C>A (p.Phe2159Leu) c.6540C>A (p.Phe2180Leu) c.6537C>A (p.Phe2179Leu) c.6483C>A (p.Phe2161Leu) c.6408C>A (p.Phe2136Leu) c.6003C>A (p.Phe2001Leu) c.5361C>A (p.Phe1787Leu) c.2871C>A (p.Phe957Leu) n.6786C>A | |
| 10 | g.71793276C= | CA1918874212 | CDH23 | c.6348C= (p.Phe2116=) c.6363C= (p.Phe2121=) c.6543C= (p.Phe2181=) c.6477C= (p.Phe2159=) c.6540C= (p.Phe2180=) c.6537C= (p.Phe2179=) c.6483C= (p.Phe2161=) c.6408C= (p.Phe2136=) c.6003C= (p.Phe2001=) c.5361C= (p.Phe1787=) c.2871C= (p.Phe957=) n.6786C= | |
| 10 | g.71793276C>G | CA209466023 | CDH23 | c.6348C>G (p.Phe2116Leu) c.6363C>G (p.Phe2121Leu) c.6543C>G (p.Phe2181Leu) c.6477C>G (p.Phe2159Leu) c.6540C>G (p.Phe2180Leu) c.6537C>G (p.Phe2179Leu) c.6483C>G (p.Phe2161Leu) c.6408C>G (p.Phe2136Leu) c.6003C>G (p.Phe2001Leu) c.5361C>G (p.Phe1787Leu) c.2871C>G (p.Phe957Leu) n.6786C>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71793276C>T | CA645559613 | CDH23 | c.6348C>T (p.Phe2116=) c.6363C>T (p.Phe2121=) c.6543C>T (p.Phe2181=) c.6477C>T (p.Phe2159=) c.6540C>T (p.Phe2180=) c.6537C>T (p.Phe2179=) c.6483C>T (p.Phe2161=) c.6408C>T (p.Phe2136=) c.6003C>T (p.Phe2001=) c.5361C>T (p.Phe1787=) c.2871C>T (p.Phe957=) n.6786C>T | ClinVar dbSNP COSMIC |
| 10 | g.71793277C>A | CA377154475 | CDH23 | c.6349C>A (p.Leu2117Ile) c.6364C>A (p.Leu2122Ile) c.6544C>A (p.Leu2182Ile) c.6478C>A (p.Leu2160Ile) c.6541C>A (p.Leu2181Ile) c.6538C>A (p.Leu2180Ile) c.6484C>A (p.Leu2162Ile) c.6409C>A (p.Leu2137Ile) c.6004C>A (p.Leu2002Ile) c.5362C>A (p.Leu1788Ile) c.2872C>A (p.Leu958Ile) n.6787C>A | |
| 10 | g.71793277C>G | CA377154478 | CDH23 | c.6349C>G (p.Leu2117Val) c.6364C>G (p.Leu2122Val) c.6544C>G (p.Leu2182Val) c.6478C>G (p.Leu2160Val) c.6541C>G (p.Leu2181Val) c.6538C>G (p.Leu2180Val) c.6484C>G (p.Leu2162Val) c.6409C>G (p.Leu2137Val) c.6004C>G (p.Leu2002Val) c.5362C>G (p.Leu1788Val) c.2872C>G (p.Leu958Val) n.6787C>G | |
| 10 | g.71793277C>T | CA377154487 | CDH23 | c.6349C>T (p.Leu2117Phe) c.6364C>T (p.Leu2122Phe) c.6544C>T (p.Leu2182Phe) c.6478C>T (p.Leu2160Phe) c.6541C>T (p.Leu2181Phe) c.6538C>T (p.Leu2180Phe) c.6484C>T (p.Leu2162Phe) c.6409C>T (p.Leu2137Phe) c.6004C>T (p.Leu2002Phe) c.5362C>T (p.Leu1788Phe) c.2872C>T (p.Leu958Phe) n.6787C>T | |
| 10 | g.71793278T>A | CA377154489 | CDH23 | c.6350T>A (p.Leu2117His) c.6365T>A (p.Leu2122His) c.6545T>A (p.Leu2182His) c.6479T>A (p.Leu2160His) c.6542T>A (p.Leu2181His) c.6539T>A (p.Leu2180His) c.6485T>A (p.Leu2162His) c.6410T>A (p.Leu2137His) c.6005T>A (p.Leu2002His) c.5363T>A (p.Leu1788His) c.2873T>A (p.Leu958His) n.6788T>A | |
| 10 | g.71793278T>C | CA377154492 | CDH23 | c.6350T>C (p.Leu2117Pro) c.6365T>C (p.Leu2122Pro) c.6545T>C (p.Leu2182Pro) c.6479T>C (p.Leu2160Pro) c.6542T>C (p.Leu2181Pro) c.6539T>C (p.Leu2180Pro) c.6485T>C (p.Leu2162Pro) c.6410T>C (p.Leu2137Pro) c.6005T>C (p.Leu2002Pro) c.5363T>C (p.Leu1788Pro) c.2873T>C (p.Leu958Pro) n.6788T>C | |
| 10 | g.71793278T>G | CA377154493 | CDH23 | c.6350T>G (p.Leu2117Arg) c.6365T>G (p.Leu2122Arg) c.6545T>G (p.Leu2182Arg) c.6479T>G (p.Leu2160Arg) c.6542T>G (p.Leu2181Arg) c.6539T>G (p.Leu2180Arg) c.6485T>G (p.Leu2162Arg) c.6410T>G (p.Leu2137Arg) c.6005T>G (p.Leu2002Arg) c.5363T>G (p.Leu1788Arg) c.2873T>G (p.Leu958Arg) n.6788T>G | |
| 10 | g.71793279C= | CA1918874214 | CDH23 | c.6351C= (p.Leu2117=) c.6366C= (p.Leu2122=) c.6546C= (p.Leu2182=) c.6480C= (p.Leu2160=) c.6543C= (p.Leu2181=) c.6540C= (p.Leu2180=) c.6486C= (p.Leu2162=) c.6411C= (p.Leu2137=) c.6006C= (p.Leu2002=) c.5364C= (p.Leu1788=) c.2874C= (p.Leu958=) n.6789C= | |
| 10 | g.71793279C>T | CA929791299 | CDH23 | c.6351C>T (p.Leu2117=) c.6366C>T (p.Leu2122=) c.6546C>T (p.Leu2182=) c.6480C>T (p.Leu2160=) c.6543C>T (p.Leu2181=) c.6540C>T (p.Leu2180=) c.6486C>T (p.Leu2162=) c.6411C>T (p.Leu2137=) c.6006C>T (p.Leu2002=) c.5364C>T (p.Leu1788=) c.2874C>T (p.Leu958=) n.6789C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71793280A= | CA1918874215 | CDH23 | c.6352A= (p.Ile2118=) c.6367A= (p.Ile2123=) c.6547A= (p.Ile2183=) c.6481A= (p.Ile2161=) c.6544A= (p.Ile2182=) c.6541A= (p.Ile2181=) c.6487A= (p.Ile2163=) c.6412A= (p.Ile2138=) c.6007A= (p.Ile2003=) c.5365A= (p.Ile1789=) c.2875A= (p.Ile959=) n.6790A= | |
| 10 | g.71793280A>C | CA377154495 | CDH23 | c.6352A>C (p.Ile2118Leu) c.6367A>C (p.Ile2123Leu) c.6547A>C (p.Ile2183Leu) c.6481A>C (p.Ile2161Leu) c.6544A>C (p.Ile2182Leu) c.6541A>C (p.Ile2181Leu) c.6487A>C (p.Ile2163Leu) c.6412A>C (p.Ile2138Leu) c.6007A>C (p.Ile2003Leu) c.5365A>C (p.Ile1789Leu) c.2875A>C (p.Ile959Leu) n.6790A>C | |
| 10 | g.71793280A>G | CA377154498 | CDH23 | c.6352A>G (p.Ile2118Val) c.6367A>G (p.Ile2123Val) c.6547A>G (p.Ile2183Val) c.6481A>G (p.Ile2161Val) c.6544A>G (p.Ile2182Val) c.6541A>G (p.Ile2181Val) c.6487A>G (p.Ile2163Val) c.6412A>G (p.Ile2138Val) c.6007A>G (p.Ile2003Val) c.5365A>G (p.Ile1789Val) c.2875A>G (p.Ile959Val) n.6790A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71793280A>T | CA377154499 | CDH23 | c.6352A>T (p.Ile2118Phe) c.6367A>T (p.Ile2123Phe) c.6547A>T (p.Ile2183Phe) c.6481A>T (p.Ile2161Phe) c.6544A>T (p.Ile2182Phe) c.6541A>T (p.Ile2181Phe) c.6487A>T (p.Ile2163Phe) c.6412A>T (p.Ile2138Phe) c.6007A>T (p.Ile2003Phe) c.5365A>T (p.Ile1789Phe) c.2875A>T (p.Ile959Phe) n.6790A>T | gnomAD v4 |
| 10 | g.71793281T>A | CA377154502 | CDH23 | c.6353T>A (p.Ile2118Asn) c.6368T>A (p.Ile2123Asn) c.6548T>A (p.Ile2183Asn) c.6482T>A (p.Ile2161Asn) c.6545T>A (p.Ile2182Asn) c.6542T>A (p.Ile2181Asn) c.6488T>A (p.Ile2163Asn) c.6413T>A (p.Ile2138Asn) c.6008T>A (p.Ile2003Asn) c.5366T>A (p.Ile1789Asn) c.2876T>A (p.Ile959Asn) n.6791T>A | COSMIC |
| 10 | g.71793281T>C | CA377154506 | CDH23 | c.6353T>C (p.Ile2118Thr) c.6368T>C (p.Ile2123Thr) c.6548T>C (p.Ile2183Thr) c.6482T>C (p.Ile2161Thr) c.6545T>C (p.Ile2182Thr) c.6542T>C (p.Ile2181Thr) c.6488T>C (p.Ile2163Thr) c.6413T>C (p.Ile2138Thr) c.6008T>C (p.Ile2003Thr) c.5366T>C (p.Ile1789Thr) c.2876T>C (p.Ile959Thr) n.6791T>C | |
| 10 | g.71793281T>G | CA377154507 | CDH23 | c.6353T>G (p.Ile2118Ser) c.6368T>G (p.Ile2123Ser) c.6548T>G (p.Ile2183Ser) c.6482T>G (p.Ile2161Ser) c.6545T>G (p.Ile2182Ser) c.6542T>G (p.Ile2181Ser) c.6488T>G (p.Ile2163Ser) c.6413T>G (p.Ile2138Ser) c.6008T>G (p.Ile2003Ser) c.5366T>G (p.Ile1789Ser) c.2876T>G (p.Ile959Ser) n.6791T>G | |
| 10 | g.71793282T>C | CA915945956 | CDH23 | c.6354T>C (p.Ile2118=) c.6369T>C (p.Ile2123=) c.6549T>C (p.Ile2183=) c.6483T>C (p.Ile2161=) c.6546T>C (p.Ile2182=) c.6543T>C (p.Ile2181=) c.6489T>C (p.Ile2163=) c.6414T>C (p.Ile2138=) c.6009T>C (p.Ile2003=) c.5367T>C (p.Ile1789=) c.2877T>C (p.Ile959=) n.6792T>C | ClinVar dbSNP |
| 10 | g.71793282T>G | CA377154509 | CDH23 | c.6354T>G (p.Ile2118Met) c.6369T>G (p.Ile2123Met) c.6549T>G (p.Ile2183Met) c.6483T>G (p.Ile2161Met) c.6546T>G (p.Ile2182Met) c.6543T>G (p.Ile2181Met) c.6489T>G (p.Ile2163Met) c.6414T>G (p.Ile2138Met) c.6009T>G (p.Ile2003Met) c.5367T>G (p.Ile1789Met) c.2877T>G (p.Ile959Met) n.6792T>G | |
| 10 | g.71793282T= | CA1918874217 | CDH23 | c.6354T= (p.Ile2118=) c.6369T= (p.Ile2123=) c.6549T= (p.Ile2183=) c.6483T= (p.Ile2161=) c.6546T= (p.Ile2182=) c.6543T= (p.Ile2181=) c.6489T= (p.Ile2163=) c.6414T= (p.Ile2138=) c.6009T= (p.Ile2003=) c.5367T= (p.Ile1789=) c.2877T= (p.Ile959=) n.6792T= | |
| 10 | g.71793283C>A | CA377154530 | CDH23 | c.6355C>A (p.His2119Asn) c.6370C>A (p.His2124Asn) c.6550C>A (p.His2184Asn) c.6484C>A (p.His2162Asn) c.6547C>A (p.His2183Asn) c.6544C>A (p.His2182Asn) c.6490C>A (p.His2164Asn) c.6415C>A (p.His2139Asn) c.6010C>A (p.His2004Asn) c.5368C>A (p.His1790Asn) c.2878C>A (p.His960Asn) n.6793C>A | |
| 10 | g.71793283C>G | CA377154533 | CDH23 | c.6355C>G (p.His2119Asp) c.6370C>G (p.His2124Asp) c.6550C>G (p.His2184Asp) c.6484C>G (p.His2162Asp) c.6547C>G (p.His2183Asp) c.6544C>G (p.His2182Asp) c.6490C>G (p.His2164Asp) c.6415C>G (p.His2139Asp) c.6010C>G (p.His2004Asp) c.5368C>G (p.His1790Asp) c.2878C>G (p.His960Asp) n.6793C>G | |
| 10 | g.71793283C>T | CA377154512 | CDH23 | c.6355C>T (p.His2119Tyr) c.6370C>T (p.His2124Tyr) c.6550C>T (p.His2184Tyr) c.6484C>T (p.His2162Tyr) c.6547C>T (p.His2183Tyr) c.6544C>T (p.His2182Tyr) c.6490C>T (p.His2164Tyr) c.6415C>T (p.His2139Tyr) c.6010C>T (p.His2004Tyr) c.5368C>T (p.His1790Tyr) c.2878C>T (p.His960Tyr) n.6793C>T | gnomAD v4 |
| 10 | g.71793284A>C | CA377154535 | CDH23 | c.6356A>C (p.His2119Pro) c.6371A>C (p.His2124Pro) c.6551A>C (p.His2184Pro) c.6485A>C (p.His2162Pro) c.6548A>C (p.His2183Pro) c.6545A>C (p.His2182Pro) c.6491A>C (p.His2164Pro) c.6416A>C (p.His2139Pro) c.6011A>C (p.His2004Pro) c.5369A>C (p.His1790Pro) c.2879A>C (p.His960Pro) n.6794A>C | gnomAD v4 |
| 10 | g.71793284A>G | CA377154538 | CDH23 | c.6356A>G (p.His2119Arg) c.6371A>G (p.His2124Arg) c.6551A>G (p.His2184Arg) c.6485A>G (p.His2162Arg) c.6548A>G (p.His2183Arg) c.6545A>G (p.His2182Arg) c.6491A>G (p.His2164Arg) c.6416A>G (p.His2139Arg) c.6011A>G (p.His2004Arg) c.5369A>G (p.His1790Arg) c.2879A>G (p.His960Arg) n.6794A>G |