| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426114C>A | CA428618204 | PROC | c.565C>A (p.Arg189=) c.121-2243C>A c.667C>A (p.Arg223=) c.508C>A (p.Arg170=) n.151C>A c.748C>A (p.Arg250=) c.730C>A (p.Arg244=) c.628C>A (p.Arg210=) c.808C>A (p.Arg270=) c.910C>A (p.Arg304=) c.850C>A (p.Arg284=) n.4471G>T c.733C>A (p.Arg245=) c.751C>A (p.Arg251=) c.541C>A (p.Arg181=) c.559C>A (p.Arg187=) | |
| 2 | g.127426114C= | CA1286883407 | PROC | c.565C= (p.Arg189=) c.121-2243C= c.667C= (p.Arg223=) c.508C= (p.Arg170=) n.151C= c.748C= (p.Arg250=) c.730C= (p.Arg244=) c.628C= (p.Arg210=) c.808C= (p.Arg270=) c.910C= (p.Arg304=) c.850C= (p.Arg284=) n.4471G= c.733C= (p.Arg245=) c.751C= (p.Arg251=) c.541C= (p.Arg181=) c.559C= (p.Arg187=) | |
| 2 | g.127426114C>G | CA348401100 | PROC | c.565C>G (p.Arg189Gly) c.121-2243C>G c.667C>G (p.Arg223Gly) c.508C>G (p.Arg170Gly) n.151C>G c.748C>G (p.Arg250Gly) c.730C>G (p.Arg244Gly) c.628C>G (p.Arg210Gly) c.808C>G (p.Arg270Gly) c.910C>G (p.Arg304Gly) c.850C>G (p.Arg284Gly) n.4471G>C c.733C>G (p.Arg245Gly) c.751C>G (p.Arg251Gly) c.541C>G (p.Arg181Gly) c.559C>G (p.Arg187Gly) | |
| 2 | g.127426114C>T | CA211732 | PROC | c.565C>T (p.Arg189Trp) c.121-2243C>T c.667C>T (p.Arg223Trp) c.508C>T (p.Arg170Trp) n.151C>T c.748C>T (p.Arg250Trp) c.730C>T (p.Arg244Trp) c.628C>T (p.Arg210Trp) c.808C>T (p.Arg270Trp) c.910C>T (p.Arg304Trp) c.850C>T (p.Arg284Trp) n.4471G>A c.733C>T (p.Arg245Trp) c.751C>T (p.Arg251Trp) c.541C>T (p.Arg181Trp) c.559C>T (p.Arg187Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426115G>A | CA348401104 | PROC | c.566G>A (p.Arg189Gln) c.121-2242G>A c.668G>A (p.Arg223Gln) c.509G>A (p.Arg170Gln) n.152G>A c.749G>A (p.Arg250Gln) c.731G>A (p.Arg244Gln) c.629G>A (p.Arg210Gln) c.809G>A (p.Arg270Gln) c.911G>A (p.Arg304Gln) c.851G>A (p.Arg284Gln) n.4470C>T c.734G>A (p.Arg245Gln) c.752G>A (p.Arg251Gln) c.542G>A (p.Arg181Gln) c.560G>A (p.Arg187Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426115G>C | CA348401106 | PROC | c.566G>C (p.Arg189Pro) c.121-2242G>C c.668G>C (p.Arg223Pro) c.509G>C (p.Arg170Pro) n.152G>C c.749G>C (p.Arg250Pro) c.731G>C (p.Arg244Pro) c.629G>C (p.Arg210Pro) c.809G>C (p.Arg270Pro) c.911G>C (p.Arg304Pro) c.851G>C (p.Arg284Pro) n.4470C>G c.734G>C (p.Arg245Pro) c.752G>C (p.Arg251Pro) c.542G>C (p.Arg181Pro) c.560G>C (p.Arg187Pro) | |
| 2 | g.127426115G= | CA1286883408 | PROC | c.566G= (p.Arg189=) c.121-2242G= c.668G= (p.Arg223=) c.509G= (p.Arg170=) n.152G= c.749G= (p.Arg250=) c.731G= (p.Arg244=) c.629G= (p.Arg210=) c.809G= (p.Arg270=) c.911G= (p.Arg304=) c.851G= (p.Arg284=) n.4470C= c.734G= (p.Arg245=) c.752G= (p.Arg251=) c.542G= (p.Arg181=) c.560G= (p.Arg187=) | |
| 2 | g.127426115G>T | CA348401108 | PROC | c.566G>T (p.Arg189Leu) c.121-2242G>T c.668G>T (p.Arg223Leu) c.509G>T (p.Arg170Leu) n.152G>T c.749G>T (p.Arg250Leu) c.731G>T (p.Arg244Leu) c.629G>T (p.Arg210Leu) c.809G>T (p.Arg270Leu) c.911G>T (p.Arg304Leu) c.851G>T (p.Arg284Leu) n.4470C>A c.734G>T (p.Arg245Leu) c.752G>T (p.Arg251Leu) c.542G>T (p.Arg181Leu) c.560G>T (p.Arg187Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127426116del | CA2586969897 | PROC | c.567del (p.Met190TrpfsTer8) c.121-2241del c.669del (p.Met224TrpfsTer8) c.510del (p.Met171TrpfsTer?) n.153del c.750del (p.Met251TrpfsTer8) c.732del (p.Met245TrpfsTer8) c.630del (p.Met211TrpfsTer8) c.810del (p.Met271TrpfsTer8) c.912del (p.Met305TrpfsTer8) c.852del (p.Met285TrpfsTer8) n.4470del c.735del (p.Met246TrpfsTer8) c.753del (p.Met252TrpfsTer8) c.510del (p.Met171TrpfsTer8) c.543del (p.Met182TrpfsTer8) c.561del (p.Met188TrpfsTer8) | |
| 2 | g.127426116G>A | CA428618211 | PROC | c.567G>A (p.Arg189=) c.121-2241G>A c.669G>A (p.Arg223=) c.510G>A (p.Arg170=) n.153G>A c.750G>A (p.Arg250=) c.732G>A (p.Arg244=) c.630G>A (p.Arg210=) c.810G>A (p.Arg270=) c.912G>A (p.Arg304=) c.852G>A (p.Arg284=) n.4469C>T c.735G>A (p.Arg245=) c.753G>A (p.Arg251=) c.543G>A (p.Arg181=) c.561G>A (p.Arg187=) | ClinVar |
| 2 | g.127426116G>C | CA428618209 | PROC | c.567G>C (p.Arg189=) c.121-2241G>C c.669G>C (p.Arg223=) c.510G>C (p.Arg170=) n.153G>C c.750G>C (p.Arg250=) c.732G>C (p.Arg244=) c.630G>C (p.Arg210=) c.810G>C (p.Arg270=) c.912G>C (p.Arg304=) c.852G>C (p.Arg284=) n.4469C>G c.735G>C (p.Arg245=) c.753G>C (p.Arg251=) c.543G>C (p.Arg181=) c.561G>C (p.Arg187=) | |
| 2 | g.127426116G>T | CA428618210 | PROC | c.567G>T (p.Arg189=) c.121-2241G>T c.669G>T (p.Arg223=) c.510G>T (p.Arg170=) n.153G>T c.750G>T (p.Arg250=) c.732G>T (p.Arg244=) c.630G>T (p.Arg210=) c.810G>T (p.Arg270=) c.912G>T (p.Arg304=) c.852G>T (p.Arg284=) n.4469C>A c.735G>T (p.Arg245=) c.753G>T (p.Arg251=) c.543G>T (p.Arg181=) c.561G>T (p.Arg187=) | |
| 2 | g.127426117A>C | CA348401112 | PROC | c.568A>C (p.Met190Leu) c.121-2240A>C c.670A>C (p.Met224Leu) c.511A>C (p.Met171Leu) n.154A>C c.751A>C (p.Met251Leu) c.733A>C (p.Met245Leu) c.631A>C (p.Met211Leu) c.811A>C (p.Met271Leu) c.913A>C (p.Met305Leu) c.853A>C (p.Met285Leu) n.4468T>G c.736A>C (p.Met246Leu) c.754A>C (p.Met252Leu) c.544A>C (p.Met182Leu) c.562A>C (p.Met188Leu) | |
| 2 | g.127426117A>G | CA348401114 | PROC | c.568A>G (p.Met190Val) c.121-2240A>G c.670A>G (p.Met224Val) c.511A>G (p.Met171Val) n.154A>G c.751A>G (p.Met251Val) c.733A>G (p.Met245Val) c.631A>G (p.Met211Val) c.811A>G (p.Met271Val) c.913A>G (p.Met305Val) c.853A>G (p.Met285Val) n.4468T>C c.736A>G (p.Met246Val) c.754A>G (p.Met252Val) c.544A>G (p.Met182Val) c.562A>G (p.Met188Val) | gnomAD v4 |
| 2 | g.127426117A>T | CA348401116 | PROC | c.568A>T (p.Met190Leu) c.121-2240A>T c.670A>T (p.Met224Leu) c.511A>T (p.Met171Leu) n.154A>T c.751A>T (p.Met251Leu) c.733A>T (p.Met245Leu) c.631A>T (p.Met211Leu) c.811A>T (p.Met271Leu) c.913A>T (p.Met305Leu) c.853A>T (p.Met285Leu) n.4468T>A c.736A>T (p.Met246Leu) c.754A>T (p.Met252Leu) c.544A>T (p.Met182Leu) c.562A>T (p.Met188Leu) | |
| 2 | g.127426118T>A | CA348401122 | PROC | c.569T>A (p.Met190Lys) c.121-2239T>A c.671T>A (p.Met224Lys) c.512T>A (p.Met171Lys) n.155T>A c.752T>A (p.Met251Lys) c.734T>A (p.Met245Lys) c.632T>A (p.Met211Lys) c.812T>A (p.Met271Lys) c.914T>A (p.Met305Lys) c.854T>A (p.Met285Lys) n.4467A>T c.737T>A (p.Met246Lys) c.755T>A (p.Met252Lys) c.545T>A (p.Met182Lys) c.563T>A (p.Met188Lys) | |
| 2 | g.127426118T>C | CA348401120 | PROC | c.569T>C (p.Met190Thr) c.121-2239T>C c.671T>C (p.Met224Thr) c.512T>C (p.Met171Thr) n.155T>C c.752T>C (p.Met251Thr) c.734T>C (p.Met245Thr) c.632T>C (p.Met211Thr) c.812T>C (p.Met271Thr) c.914T>C (p.Met305Thr) c.854T>C (p.Met285Thr) n.4467A>G c.737T>C (p.Met246Thr) c.755T>C (p.Met252Thr) c.545T>C (p.Met182Thr) c.563T>C (p.Met188Thr) | dbSNP |
| 2 | g.127426118T>G | CA348401119 | PROC | c.569T>G (p.Met190Arg) c.121-2239T>G c.671T>G (p.Met224Arg) c.512T>G (p.Met171Arg) n.155T>G c.752T>G (p.Met251Arg) c.734T>G (p.Met245Arg) c.632T>G (p.Met211Arg) c.812T>G (p.Met271Arg) c.914T>G (p.Met305Arg) c.854T>G (p.Met285Arg) n.4467A>C c.737T>G (p.Met246Arg) c.755T>G (p.Met252Arg) c.545T>G (p.Met182Arg) c.563T>G (p.Met188Arg) | |
| 2 | g.127426118T= | CA1286883409 | PROC | c.569T= (p.Met190=) c.121-2239T= c.671T= (p.Met224=) c.512T= (p.Met171=) n.155T= c.752T= (p.Met251=) c.734T= (p.Met245=) c.632T= (p.Met211=) c.812T= (p.Met271=) c.914T= (p.Met305=) c.854T= (p.Met285=) n.4467A= c.737T= (p.Met246=) c.755T= (p.Met252=) c.545T= (p.Met182=) c.563T= (p.Met188=) | |
| 2 | g.127426119G>A | CA348401126 | PROC | c.570G>A (p.Met190Ile) c.121-2238G>A c.672G>A (p.Met224Ile) c.513G>A (p.Met171Ile) n.156G>A c.753G>A (p.Met251Ile) c.735G>A (p.Met245Ile) c.633G>A (p.Met211Ile) c.813G>A (p.Met271Ile) c.915G>A (p.Met305Ile) c.855G>A (p.Met285Ile) n.4466C>T c.738G>A (p.Met246Ile) c.756G>A (p.Met252Ile) c.546G>A (p.Met182Ile) c.564G>A (p.Met188Ile) | gnomAD v4 |
| 2 | g.127426119G>C | CA348401127 | PROC | c.570G>C (p.Met190Ile) c.121-2238G>C c.672G>C (p.Met224Ile) c.513G>C (p.Met171Ile) n.156G>C c.753G>C (p.Met251Ile) c.735G>C (p.Met245Ile) c.633G>C (p.Met211Ile) c.813G>C (p.Met271Ile) c.915G>C (p.Met305Ile) c.855G>C (p.Met285Ile) n.4466C>G c.738G>C (p.Met246Ile) c.756G>C (p.Met252Ile) c.546G>C (p.Met182Ile) c.564G>C (p.Met188Ile) | |
| 2 | g.127426119G>T | CA348401130 | PROC | c.570G>T (p.Met190Ile) c.121-2238G>T c.672G>T (p.Met224Ile) c.513G>T (p.Met171Ile) n.156G>T c.753G>T (p.Met251Ile) c.735G>T (p.Met245Ile) c.633G>T (p.Met211Ile) c.813G>T (p.Met271Ile) c.915G>T (p.Met305Ile) c.855G>T (p.Met285Ile) n.4466C>A c.738G>T (p.Met246Ile) c.756G>T (p.Met252Ile) c.546G>T (p.Met182Ile) c.564G>T (p.Met188Ile) | |
| 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) |