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 |
|---|---|---|---|---|---|
| 2 | g.127426120G>A | CA348401133 | PROC | c.571G>A (p.Glu191Lys) c.121-2237G>A c.673G>A (p.Glu225Lys) c.514G>A (p.Glu172Lys) n.157G>A c.754G>A (p.Glu252Lys) c.736G>A (p.Glu246Lys) c.634G>A (p.Glu212Lys) c.814G>A (p.Glu272Lys) c.916G>A (p.Glu306Lys) c.856G>A (p.Glu286Lys) n.4465C>T c.739G>A (p.Glu247Lys) c.757G>A (p.Glu253Lys) c.547G>A (p.Glu183Lys) c.565G>A (p.Glu189Lys) | gnomAD v4 |
| 2 | g.127426120G>C | CA1859389 | PROC | c.571G>C (p.Glu191Gln) c.121-2237G>C c.673G>C (p.Glu225Gln) c.514G>C (p.Glu172Gln) n.157G>C c.754G>C (p.Glu252Gln) c.736G>C (p.Glu246Gln) c.634G>C (p.Glu212Gln) c.814G>C (p.Glu272Gln) c.916G>C (p.Glu306Gln) c.856G>C (p.Glu286Gln) n.4465C>G c.739G>C (p.Glu247Gln) c.757G>C (p.Glu253Gln) c.547G>C (p.Glu183Gln) c.565G>C (p.Glu189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426120G= | CA1286883411 | PROC | c.571G= (p.Glu191=) c.121-2237G= c.673G= (p.Glu225=) c.514G= (p.Glu172=) n.157G= c.754G= (p.Glu252=) c.736G= (p.Glu246=) c.634G= (p.Glu212=) c.814G= (p.Glu272=) c.916G= (p.Glu306=) c.856G= (p.Glu286=) n.4465C= c.739G= (p.Glu247=) c.757G= (p.Glu253=) c.547G= (p.Glu183=) c.565G= (p.Glu189=) | |
| 2 | g.127426120G>T | CA348401135 | PROC | c.571G>T (p.Glu191Ter) c.121-2237G>T c.673G>T (p.Glu225Ter) c.514G>T (p.Glu172Ter) n.157G>T c.754G>T (p.Glu252Ter) c.736G>T (p.Glu246Ter) c.634G>T (p.Glu212Ter) c.814G>T (p.Glu272Ter) c.916G>T (p.Glu306Ter) c.856G>T (p.Glu286Ter) n.4465C>A c.739G>T (p.Glu247Ter) c.757G>T (p.Glu253Ter) c.547G>T (p.Glu183Ter) c.565G>T (p.Glu189Ter) | |
| 2 | g.127426120_127426123delinsGAGA | CA1286883410 | PROC | c.571_574delinsGAGA (p.Glu191=) c.121-2237_121-2234delinsGAGA c.673_676delinsGAGA (p.Glu225=) c.514_517delinsGAGA (p.Glu172=) n.157_160delinsGAGA c.754_757delinsGAGA (p.Glu252=) c.736_739delinsGAGA (p.Glu246=) c.634_637delinsGAGA (p.Glu212=) c.814_817delinsGAGA (p.Glu272=) c.916_919delinsGAGA (p.Glu306=) c.856_859delinsGAGA (p.Glu286=) n.4462_4465delinsTCTC c.739_742delinsGAGA (p.Glu247=) c.757_760delinsGAGA (p.Glu253=) c.547_550delinsGAGA (p.Glu183=) c.565_568delinsGAGA (p.Glu189=) | |
| 2 | g.127426121A>C | CA348401151 | PROC | c.572A>C (p.Glu191Ala) c.121-2236A>C c.674A>C (p.Glu225Ala) c.515A>C (p.Glu172Ala) n.158A>C c.755A>C (p.Glu252Ala) c.737A>C (p.Glu246Ala) c.635A>C (p.Glu212Ala) c.815A>C (p.Glu272Ala) c.917A>C (p.Glu306Ala) c.857A>C (p.Glu286Ala) n.4464T>G c.740A>C (p.Glu247Ala) c.758A>C (p.Glu253Ala) c.548A>C (p.Glu183Ala) c.566A>C (p.Glu189Ala) | |
| 2 | g.127426121A>G | CA348401149 | PROC | c.572A>G (p.Glu191Gly) c.121-2236A>G c.674A>G (p.Glu225Gly) c.515A>G (p.Glu172Gly) n.158A>G c.755A>G (p.Glu252Gly) c.737A>G (p.Glu246Gly) c.635A>G (p.Glu212Gly) c.815A>G (p.Glu272Gly) c.917A>G (p.Glu306Gly) c.857A>G (p.Glu286Gly) n.4464T>C c.740A>G (p.Glu247Gly) c.758A>G (p.Glu253Gly) c.548A>G (p.Glu183Gly) c.566A>G (p.Glu189Gly) | |
| 2 | g.127426121A>T | CA348401147 | PROC | c.572A>T (p.Glu191Val) c.121-2236A>T c.674A>T (p.Glu225Val) c.515A>T (p.Glu172Val) n.158A>T c.755A>T (p.Glu252Val) c.737A>T (p.Glu246Val) c.635A>T (p.Glu212Val) c.815A>T (p.Glu272Val) c.917A>T (p.Glu306Val) c.857A>T (p.Glu286Val) n.4464T>A c.740A>T (p.Glu247Val) c.758A>T (p.Glu253Val) c.548A>T (p.Glu183Val) c.566A>T (p.Glu189Val) | |
| 2 | g.127426126_127426128dup | CA1286883412 | PROC | c.577_579dup (p.Lys193_Arg194insLys) c.121-2231_121-2229dup c.679_681dup (p.Lys227_Arg228insLys) c.520_522dup (p.Lys174_Arg175insLys) n.163_165dup c.760_762dup (p.Lys254_Arg255insLys) c.742_744dup (p.Lys248_Arg249insLys) c.640_642dup (p.Lys214_Arg215insLys) c.820_822dup (p.Lys274_Arg275insLys) c.922_924dup (p.Lys308_Arg309insLys) c.862_864dup (p.Lys288_Arg289insLys) n.4462_4464dup c.745_747dup (p.Lys249_Arg250insLys) c.763_765dup (p.Lys255_Arg256insLys) c.553_555dup (p.Lys185_Arg186insLys) c.571_573dup (p.Lys191_Arg192insLys) | dbSNP |
| 2 | g.127426126_127426128del | CA1859388 | PROC | c.577_579del (p.Lys193del) c.121-2231_121-2229del c.679_681del (p.Lys227del) c.520_522del (p.Lys174del) n.163_165del c.760_762del (p.Lys254del) c.742_744del (p.Lys248del) c.640_642del (p.Lys214del) c.820_822del (p.Lys274del) c.922_924del (p.Lys308del) c.862_864del (p.Lys288del) n.4462_4464del c.745_747del (p.Lys249del) c.763_765del (p.Lys255del) c.553_555del (p.Lys185del) c.571_573del (p.Lys191del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426122G>A | CA428618219 | PROC | c.573G>A (p.Glu191=) c.121-2235G>A c.675G>A (p.Glu225=) c.516G>A (p.Glu172=) n.159G>A c.756G>A (p.Glu252=) c.738G>A (p.Glu246=) c.636G>A (p.Glu212=) c.816G>A (p.Glu272=) c.918G>A (p.Glu306=) c.858G>A (p.Glu286=) n.4463C>T c.741G>A (p.Glu247=) c.759G>A (p.Glu253=) c.549G>A (p.Glu183=) c.567G>A (p.Glu189=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127426122G>C | CA348401154 | PROC | c.573G>C (p.Glu191Asp) c.121-2235G>C c.675G>C (p.Glu225Asp) c.516G>C (p.Glu172Asp) n.159G>C c.756G>C (p.Glu252Asp) c.738G>C (p.Glu246Asp) c.636G>C (p.Glu212Asp) c.816G>C (p.Glu272Asp) c.918G>C (p.Glu306Asp) c.858G>C (p.Glu286Asp) n.4463C>G c.741G>C (p.Glu247Asp) c.759G>C (p.Glu253Asp) c.549G>C (p.Glu183Asp) c.567G>C (p.Glu189Asp) | |
| 2 | g.127426122G= | CA1286883413 | PROC | c.573G= (p.Glu191=) c.121-2235G= c.675G= (p.Glu225=) c.516G= (p.Glu172=) n.159G= c.756G= (p.Glu252=) c.738G= (p.Glu246=) c.636G= (p.Glu212=) c.816G= (p.Glu272=) c.918G= (p.Glu306=) c.858G= (p.Glu286=) n.4463C= c.741G= (p.Glu247=) c.759G= (p.Glu253=) c.549G= (p.Glu183=) c.567G= (p.Glu189=) | |
| 2 | g.127426122G>T | CA348401155 | PROC | c.573G>T (p.Glu191Asp) c.121-2235G>T c.675G>T (p.Glu225Asp) c.516G>T (p.Glu172Asp) n.159G>T c.756G>T (p.Glu252Asp) c.738G>T (p.Glu246Asp) c.636G>T (p.Glu212Asp) c.816G>T (p.Glu272Asp) c.918G>T (p.Glu306Asp) c.858G>T (p.Glu286Asp) n.4463C>A c.741G>T (p.Glu247Asp) c.759G>T (p.Glu253Asp) c.549G>T (p.Glu183Asp) c.567G>T (p.Glu189Asp) | |
| 2 | g.127426123A>C | CA348401157 | PROC | c.574A>C (p.Lys192Gln) c.121-2234A>C c.676A>C (p.Lys226Gln) c.517A>C (p.Lys173Gln) n.160A>C c.757A>C (p.Lys253Gln) c.739A>C (p.Lys247Gln) c.637A>C (p.Lys213Gln) c.817A>C (p.Lys273Gln) c.919A>C (p.Lys307Gln) c.859A>C (p.Lys287Gln) n.4462T>G c.742A>C (p.Lys248Gln) c.760A>C (p.Lys254Gln) c.550A>C (p.Lys184Gln) c.568A>C (p.Lys190Gln) | |
| 2 | g.127426123A>G | CA348401161 | PROC | c.574A>G (p.Lys192Glu) c.121-2234A>G c.676A>G (p.Lys226Glu) c.517A>G (p.Lys173Glu) n.160A>G c.757A>G (p.Lys253Glu) c.739A>G (p.Lys247Glu) c.637A>G (p.Lys213Glu) c.817A>G (p.Lys273Glu) c.919A>G (p.Lys307Glu) c.859A>G (p.Lys287Glu) n.4462T>C c.742A>G (p.Lys248Glu) c.760A>G (p.Lys254Glu) c.550A>G (p.Lys184Glu) c.568A>G (p.Lys190Glu) | |
| 2 | g.127426123A>T | CA348401163 | PROC | c.574A>T (p.Lys192Ter) c.121-2234A>T c.676A>T (p.Lys226Ter) c.517A>T (p.Lys173Ter) n.160A>T c.757A>T (p.Lys253Ter) c.739A>T (p.Lys247Ter) c.637A>T (p.Lys213Ter) c.817A>T (p.Lys273Ter) c.919A>T (p.Lys307Ter) c.859A>T (p.Lys287Ter) n.4462T>A c.742A>T (p.Lys248Ter) c.760A>T (p.Lys254Ter) c.550A>T (p.Lys184Ter) c.568A>T (p.Lys190Ter) | |
| 2 | g.127426124A>C | CA348401167 | PROC | c.575A>C (p.Lys192Thr) c.121-2233A>C c.677A>C (p.Lys226Thr) c.518A>C (p.Lys173Thr) n.161A>C c.758A>C (p.Lys253Thr) c.740A>C (p.Lys247Thr) c.638A>C (p.Lys213Thr) c.818A>C (p.Lys273Thr) c.920A>C (p.Lys307Thr) c.860A>C (p.Lys287Thr) n.4461T>G c.743A>C (p.Lys248Thr) c.761A>C (p.Lys254Thr) c.551A>C (p.Lys184Thr) c.569A>C (p.Lys190Thr) | |
| 2 | g.127426124A>G | CA348401169 | PROC | c.575A>G (p.Lys192Arg) c.121-2233A>G c.677A>G (p.Lys226Arg) c.518A>G (p.Lys173Arg) n.161A>G c.758A>G (p.Lys253Arg) c.740A>G (p.Lys247Arg) c.638A>G (p.Lys213Arg) c.818A>G (p.Lys273Arg) c.920A>G (p.Lys307Arg) c.860A>G (p.Lys287Arg) n.4461T>C c.743A>G (p.Lys248Arg) c.761A>G (p.Lys254Arg) c.551A>G (p.Lys184Arg) c.569A>G (p.Lys190Arg) | |
| 2 | g.127426124A>T | CA348401171 | PROC | c.575A>T (p.Lys192Met) c.121-2233A>T c.677A>T (p.Lys226Met) c.518A>T (p.Lys173Met) n.161A>T c.758A>T (p.Lys253Met) c.740A>T (p.Lys247Met) c.638A>T (p.Lys213Met) c.818A>T (p.Lys273Met) c.920A>T (p.Lys307Met) c.860A>T (p.Lys287Met) n.4461T>A c.743A>T (p.Lys248Met) c.761A>T (p.Lys254Met) c.551A>T (p.Lys184Met) c.569A>T (p.Lys190Met) | |
| 2 | g.127426125G>A | CA428618225 | PROC | c.576G>A (p.Lys192=) c.121-2232G>A c.678G>A (p.Lys226=) c.519G>A (p.Lys173=) n.162G>A c.759G>A (p.Lys253=) c.741G>A (p.Lys247=) c.639G>A (p.Lys213=) c.819G>A (p.Lys273=) c.921G>A (p.Lys307=) c.861G>A (p.Lys287=) n.4460C>T c.744G>A (p.Lys248=) c.762G>A (p.Lys254=) c.552G>A (p.Lys184=) c.570G>A (p.Lys190=) | |
| 2 | g.127426125G>C | CA348401173 | PROC | c.576G>C (p.Lys192Asn) c.121-2232G>C c.678G>C (p.Lys226Asn) c.519G>C (p.Lys173Asn) n.162G>C c.759G>C (p.Lys253Asn) c.741G>C (p.Lys247Asn) c.639G>C (p.Lys213Asn) c.819G>C (p.Lys273Asn) c.921G>C (p.Lys307Asn) c.861G>C (p.Lys287Asn) n.4460C>G c.744G>C (p.Lys248Asn) c.762G>C (p.Lys254Asn) c.552G>C (p.Lys184Asn) c.570G>C (p.Lys190Asn) | |
| 2 | g.127426125G>T | CA348401174 | PROC | c.576G>T (p.Lys192Asn) c.121-2232G>T c.678G>T (p.Lys226Asn) c.519G>T (p.Lys173Asn) n.162G>T c.759G>T (p.Lys253Asn) c.741G>T (p.Lys247Asn) c.639G>T (p.Lys213Asn) c.819G>T (p.Lys273Asn) c.921G>T (p.Lys307Asn) c.861G>T (p.Lys287Asn) n.4460C>A c.744G>T (p.Lys248Asn) c.762G>T (p.Lys254Asn) c.552G>T (p.Lys184Asn) c.570G>T (p.Lys190Asn) | |
| 2 | g.127426126A= | CA1286883414 | PROC | c.577A= (p.Lys193=) c.121-2231A= c.679A= (p.Lys227=) c.520A= (p.Lys174=) n.163A= c.760A= (p.Lys254=) c.742A= (p.Lys248=) c.640A= (p.Lys214=) c.820A= (p.Lys274=) c.922A= (p.Lys308=) c.862A= (p.Lys288=) n.4459T= c.745A= (p.Lys249=) c.763A= (p.Lys255=) c.553A= (p.Lys185=) c.571A= (p.Lys191=) | |
| 2 | g.127426126A>C | CA1859390 | PROC | c.577A>C (p.Lys193Gln) c.121-2231A>C c.679A>C (p.Lys227Gln) c.520A>C (p.Lys174Gln) n.163A>C c.760A>C (p.Lys254Gln) c.742A>C (p.Lys248Gln) c.640A>C (p.Lys214Gln) c.820A>C (p.Lys274Gln) c.922A>C (p.Lys308Gln) c.862A>C (p.Lys288Gln) n.4459T>G c.745A>C (p.Lys249Gln) c.763A>C (p.Lys255Gln) c.553A>C (p.Lys185Gln) c.571A>C (p.Lys191Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426126A>G | CA348401180 | PROC | c.577A>G (p.Lys193Glu) c.121-2231A>G c.679A>G (p.Lys227Glu) c.520A>G (p.Lys174Glu) n.163A>G c.760A>G (p.Lys254Glu) c.742A>G (p.Lys248Glu) c.640A>G (p.Lys214Glu) c.820A>G (p.Lys274Glu) c.922A>G (p.Lys308Glu) c.862A>G (p.Lys288Glu) n.4459T>C c.745A>G (p.Lys249Glu) c.763A>G (p.Lys255Glu) c.553A>G (p.Lys185Glu) c.571A>G (p.Lys191Glu) | |
| 2 | g.127426126A>T | CA348401182 | PROC | c.577A>T (p.Lys193Ter) c.121-2231A>T c.679A>T (p.Lys227Ter) c.520A>T (p.Lys174Ter) n.163A>T c.760A>T (p.Lys254Ter) c.742A>T (p.Lys248Ter) c.640A>T (p.Lys214Ter) c.820A>T (p.Lys274Ter) c.922A>T (p.Lys308Ter) c.862A>T (p.Lys288Ter) n.4459T>A c.745A>T (p.Lys249Ter) c.763A>T (p.Lys255Ter) c.553A>T (p.Lys185Ter) c.571A>T (p.Lys191Ter) | |
| 2 | g.127426127A>C | CA348401192 | PROC | c.578A>C (p.Lys193Thr) c.121-2230A>C c.680A>C (p.Lys227Thr) c.521A>C (p.Lys174Thr) n.164A>C c.761A>C (p.Lys254Thr) c.743A>C (p.Lys248Thr) c.641A>C (p.Lys214Thr) c.821A>C (p.Lys274Thr) c.923A>C (p.Lys308Thr) c.863A>C (p.Lys288Thr) n.4458T>G c.746A>C (p.Lys249Thr) c.764A>C (p.Lys255Thr) c.554A>C (p.Lys185Thr) c.572A>C (p.Lys191Thr) | |
| 2 | g.127426127A>G | CA348401194 | PROC | c.578A>G (p.Lys193Arg) c.121-2230A>G c.680A>G (p.Lys227Arg) c.521A>G (p.Lys174Arg) n.164A>G c.761A>G (p.Lys254Arg) c.743A>G (p.Lys248Arg) c.641A>G (p.Lys214Arg) c.821A>G (p.Lys274Arg) c.923A>G (p.Lys308Arg) c.863A>G (p.Lys288Arg) n.4458T>C c.746A>G (p.Lys249Arg) c.764A>G (p.Lys255Arg) c.554A>G (p.Lys185Arg) c.572A>G (p.Lys191Arg) | |
| 2 | g.127426127A>T | CA348401197 | PROC | c.578A>T (p.Lys193Met) c.121-2230A>T c.680A>T (p.Lys227Met) c.521A>T (p.Lys174Met) n.164A>T c.761A>T (p.Lys254Met) c.743A>T (p.Lys248Met) c.641A>T (p.Lys214Met) c.821A>T (p.Lys274Met) c.923A>T (p.Lys308Met) c.863A>T (p.Lys288Met) n.4458T>A c.746A>T (p.Lys249Met) c.764A>T (p.Lys255Met) c.554A>T (p.Lys185Met) c.572A>T (p.Lys191Met) | |
| 2 | g.127426128G>A | CA428618232 | PROC | c.579G>A (p.Lys193=) c.121-2229G>A c.681G>A (p.Lys227=) c.522G>A (p.Lys174=) n.165G>A c.762G>A (p.Lys254=) c.744G>A (p.Lys248=) c.642G>A (p.Lys214=) c.822G>A (p.Lys274=) c.924G>A (p.Lys308=) c.864G>A (p.Lys288=) n.4457C>T c.747G>A (p.Lys249=) c.765G>A (p.Lys255=) c.555G>A (p.Lys185=) c.573G>A (p.Lys191=) | dbSNP gnomAD v4 |
| 2 | g.127426128G>C | CA348401199 | PROC | c.579G>C (p.Lys193Asn) c.121-2229G>C c.681G>C (p.Lys227Asn) c.522G>C (p.Lys174Asn) n.165G>C c.762G>C (p.Lys254Asn) c.744G>C (p.Lys248Asn) c.642G>C (p.Lys214Asn) c.822G>C (p.Lys274Asn) c.924G>C (p.Lys308Asn) c.864G>C (p.Lys288Asn) n.4457C>G c.747G>C (p.Lys249Asn) c.765G>C (p.Lys255Asn) c.555G>C (p.Lys185Asn) c.573G>C (p.Lys191Asn) | |
| 2 | g.127426128G= | CA1286883415 | PROC | c.579G= (p.Lys193=) c.121-2229G= c.681G= (p.Lys227=) c.522G= (p.Lys174=) n.165G= c.762G= (p.Lys254=) c.744G= (p.Lys248=) c.642G= (p.Lys214=) c.822G= (p.Lys274=) c.924G= (p.Lys308=) c.864G= (p.Lys288=) n.4457C= c.747G= (p.Lys249=) c.765G= (p.Lys255=) c.555G= (p.Lys185=) c.573G= (p.Lys191=) | |
| 2 | g.127426128G>T | CA348401201 | PROC | c.579G>T (p.Lys193Asn) c.121-2229G>T c.681G>T (p.Lys227Asn) c.522G>T (p.Lys174Asn) n.165G>T c.762G>T (p.Lys254Asn) c.744G>T (p.Lys248Asn) c.642G>T (p.Lys214Asn) c.822G>T (p.Lys274Asn) c.924G>T (p.Lys308Asn) c.864G>T (p.Lys288Asn) n.4457C>A c.747G>T (p.Lys249Asn) c.765G>T (p.Lys255Asn) c.555G>T (p.Lys185Asn) c.573G>T (p.Lys191Asn) | |
| 2 | g.127426129C>A | CA348401204 | PROC | c.580C>A (p.Arg194Ser) c.121-2228C>A c.682C>A (p.Arg228Ser) c.523C>A (p.Arg175Ser) n.166C>A c.763C>A (p.Arg255Ser) c.745C>A (p.Arg249Ser) c.643C>A (p.Arg215Ser) c.823C>A (p.Arg275Ser) c.925C>A (p.Arg309Ser) c.865C>A (p.Arg289Ser) n.4456G>T c.748C>A (p.Arg250Ser) c.766C>A (p.Arg256Ser) c.556C>A (p.Arg186Ser) c.574C>A (p.Arg192Ser) | |
| 2 | g.127426129C= | CA1286883416 | PROC | c.580C= (p.Arg194=) c.121-2228C= c.682C= (p.Arg228=) c.523C= (p.Arg175=) n.166C= c.763C= (p.Arg255=) c.745C= (p.Arg249=) c.643C= (p.Arg215=) c.823C= (p.Arg275=) c.925C= (p.Arg309=) c.865C= (p.Arg289=) n.4456G= c.748C= (p.Arg250=) c.766C= (p.Arg256=) c.556C= (p.Arg186=) c.574C= (p.Arg192=) | |
| 2 | g.127426129C>G | CA348401207 | PROC | c.580C>G (p.Arg194Gly) c.121-2228C>G c.682C>G (p.Arg228Gly) c.523C>G (p.Arg175Gly) n.166C>G c.763C>G (p.Arg255Gly) c.745C>G (p.Arg249Gly) c.643C>G (p.Arg215Gly) c.823C>G (p.Arg275Gly) c.925C>G (p.Arg309Gly) c.865C>G (p.Arg289Gly) n.4456G>C c.748C>G (p.Arg250Gly) c.766C>G (p.Arg256Gly) c.556C>G (p.Arg186Gly) c.574C>G (p.Arg192Gly) | |
| 2 | g.127426129C>T | CA211724 | PROC | c.580C>T (p.Arg194Cys) c.121-2228C>T c.682C>T (p.Arg228Cys) c.523C>T (p.Arg175Cys) n.166C>T c.763C>T (p.Arg255Cys) c.745C>T (p.Arg249Cys) c.643C>T (p.Arg215Cys) c.823C>T (p.Arg275Cys) c.925C>T (p.Arg309Cys) c.865C>T (p.Arg289Cys) n.4456G>A c.748C>T (p.Arg250Cys) c.766C>T (p.Arg256Cys) c.556C>T (p.Arg186Cys) c.574C>T (p.Arg192Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426130G>A | CA1859391 | PROC | c.581G>A (p.Arg194His) c.121-2227G>A c.683G>A (p.Arg228His) c.524G>A (p.Arg175His) n.167G>A c.764G>A (p.Arg255His) c.746G>A (p.Arg249His) c.644G>A (p.Arg215His) c.824G>A (p.Arg275His) c.926G>A (p.Arg309His) c.866G>A (p.Arg289His) n.4455C>T c.749G>A (p.Arg250His) c.767G>A (p.Arg256His) c.557G>A (p.Arg186His) c.575G>A (p.Arg192His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.127426130G>C | CA348401210 | PROC | c.581G>C (p.Arg194Pro) c.121-2227G>C c.683G>C (p.Arg228Pro) c.524G>C (p.Arg175Pro) n.167G>C c.764G>C (p.Arg255Pro) c.746G>C (p.Arg249Pro) c.644G>C (p.Arg215Pro) c.824G>C (p.Arg275Pro) c.926G>C (p.Arg309Pro) c.866G>C (p.Arg289Pro) n.4455C>G c.749G>C (p.Arg250Pro) c.767G>C (p.Arg256Pro) c.557G>C (p.Arg186Pro) c.575G>C (p.Arg192Pro) | |
| 2 | g.127426130G= | CA1286883417 | PROC | c.581G= (p.Arg194=) c.121-2227G= c.683G= (p.Arg228=) c.524G= (p.Arg175=) n.167G= c.764G= (p.Arg255=) c.746G= (p.Arg249=) c.644G= (p.Arg215=) c.824G= (p.Arg275=) c.926G= (p.Arg309=) c.866G= (p.Arg289=) n.4455C= c.749G= (p.Arg250=) c.767G= (p.Arg256=) c.557G= (p.Arg186=) c.575G= (p.Arg192=) | |
| 2 | g.127426130G>T | CA55348271 | PROC | c.581G>T (p.Arg194Leu) c.121-2227G>T c.683G>T (p.Arg228Leu) c.524G>T (p.Arg175Leu) n.167G>T c.764G>T (p.Arg255Leu) c.746G>T (p.Arg249Leu) c.644G>T (p.Arg215Leu) c.824G>T (p.Arg275Leu) c.926G>T (p.Arg309Leu) c.866G>T (p.Arg289Leu) n.4455C>A c.749G>T (p.Arg250Leu) c.767G>T (p.Arg256Leu) c.557G>T (p.Arg186Leu) c.575G>T (p.Arg192Leu) | dbSNP |
| 2 | g.127426131C>A | CA428618234 | PROC | c.582C>A (p.Arg194=) c.121-2226C>A c.684C>A (p.Arg228=) c.525C>A (p.Arg175=) n.168C>A c.765C>A (p.Arg255=) c.747C>A (p.Arg249=) c.645C>A (p.Arg215=) c.825C>A (p.Arg275=) c.927C>A (p.Arg309=) c.867C>A (p.Arg289=) n.4454G>T c.750C>A (p.Arg250=) c.768C>A (p.Arg256=) c.558C>A (p.Arg186=) c.576C>A (p.Arg192=) | |
| 2 | g.127426131C= | CA1286883418 | PROC | c.582C= (p.Arg194=) c.121-2226C= c.684C= (p.Arg228=) c.525C= (p.Arg175=) n.168C= c.765C= (p.Arg255=) c.747C= (p.Arg249=) c.645C= (p.Arg215=) c.825C= (p.Arg275=) c.927C= (p.Arg309=) c.867C= (p.Arg289=) n.4454G= c.750C= (p.Arg250=) c.768C= (p.Arg256=) c.558C= (p.Arg186=) c.576C= (p.Arg192=) | |
| 2 | g.127426131C>G | CA428618236 | PROC | c.582C>G (p.Arg194=) c.121-2226C>G c.684C>G (p.Arg228=) c.525C>G (p.Arg175=) n.168C>G c.765C>G (p.Arg255=) c.747C>G (p.Arg249=) c.645C>G (p.Arg215=) c.825C>G (p.Arg275=) c.927C>G (p.Arg309=) c.867C>G (p.Arg289=) n.4454G>C c.750C>G (p.Arg250=) c.768C>G (p.Arg256=) c.558C>G (p.Arg186=) c.576C>G (p.Arg192=) | |
| 2 | g.127426131C>T | CA428618235 | PROC | c.582C>T (p.Arg194=) c.121-2226C>T c.684C>T (p.Arg228=) c.525C>T (p.Arg175=) n.168C>T c.765C>T (p.Arg255=) c.747C>T (p.Arg249=) c.645C>T (p.Arg215=) c.825C>T (p.Arg275=) c.927C>T (p.Arg309=) c.867C>T (p.Arg289=) n.4454G>A c.750C>T (p.Arg250=) c.768C>T (p.Arg256=) c.558C>T (p.Arg186=) c.576C>T (p.Arg192=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127426132A= | CA1286883419 | PROC | c.583A= (p.Ser195=) c.121-2225A= c.685A= (p.Ser229=) n.169A= c.766A= (p.Ser256=) c.748A= (p.Ser250=) c.646A= (p.Ser216=) c.826A= (p.Ser276=) c.928A= (p.Ser310=) c.868A= (p.Ser290=) n.4453T= c.751A= (p.Ser251=) c.769A= (p.Ser257=) c.526A= (p.Ser176=) c.559A= (p.Ser187=) c.577A= (p.Ser193=) | |
| 2 | g.127426132A>C | CA348401219 | PROC | c.583A>C (p.Ser195Arg) c.121-2225A>C c.685A>C (p.Ser229Arg) n.169A>C c.766A>C (p.Ser256Arg) c.748A>C (p.Ser250Arg) c.646A>C (p.Ser216Arg) c.826A>C (p.Ser276Arg) c.928A>C (p.Ser310Arg) c.868A>C (p.Ser290Arg) n.4453T>G c.751A>C (p.Ser251Arg) c.769A>C (p.Ser257Arg) c.526A>C (p.Ser176Arg) c.559A>C (p.Ser187Arg) c.577A>C (p.Ser193Arg) | |
| 2 | g.127426132A>G | CA348401215 | PROC | c.583A>G (p.Ser195Gly) c.121-2225A>G c.685A>G (p.Ser229Gly) n.169A>G c.766A>G (p.Ser256Gly) c.748A>G (p.Ser250Gly) c.646A>G (p.Ser216Gly) c.826A>G (p.Ser276Gly) c.928A>G (p.Ser310Gly) c.868A>G (p.Ser290Gly) n.4453T>C c.751A>G (p.Ser251Gly) c.769A>G (p.Ser257Gly) c.526A>G (p.Ser176Gly) c.559A>G (p.Ser187Gly) c.577A>G (p.Ser193Gly) | dbSNP gnomAD v4 |
| 2 | g.127426132A>T | CA348401218 | PROC | c.583A>T (p.Ser195Cys) c.121-2225A>T c.685A>T (p.Ser229Cys) n.169A>T c.766A>T (p.Ser256Cys) c.748A>T (p.Ser250Cys) c.646A>T (p.Ser216Cys) c.826A>T (p.Ser276Cys) c.928A>T (p.Ser310Cys) c.868A>T (p.Ser290Cys) n.4453T>A c.751A>T (p.Ser251Cys) c.769A>T (p.Ser257Cys) c.526A>T (p.Ser176Cys) c.559A>T (p.Ser187Cys) c.577A>T (p.Ser193Cys) |