Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162282396T>A | CA349002705 | IFIH1 | c.*873A>T (n.*873A>T) c.1276A>T (p.Asn426Tyr) n.886A>T c.964A>T (p.Asn322Tyr) c.559A>T (p.Asn187Tyr) | |
2 | g.162282396T>C | CA349002703 | IFIH1 | c.*873A>G (n.*873A>G) c.1276A>G (p.Asn426Asp) n.886A>G c.964A>G (p.Asn322Asp) c.559A>G (p.Asn187Asp) | |
2 | g.162282396T>G | CA349002704 | IFIH1 | c.*873A>C (n.*873A>C) c.1276A>C (p.Asn426His) n.886A>C c.964A>C (p.Asn322His) c.559A>C (p.Asn187His) | |
2 | g.162282397T>A | CA349002706 | IFIH1 | c.*872A>T (n.*872A>T) c.1275A>T (p.Glu425Asp) n.885A>T c.963A>T (p.Glu321Asp) c.558A>T (p.Glu186Asp) | |
2 | g.162282397T>C | CA1934577 | IFIH1 | c.*872A>G (n.*872A>G) c.1275A>G (p.Glu425=) n.885A>G c.963A>G (p.Glu321=) c.558A>G (p.Glu186=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282397T>G | CA349002707 | IFIH1 | c.*872A>C (n.*872A>C) c.1275A>C (p.Glu425Asp) n.885A>C c.963A>C (p.Glu321Asp) c.558A>C (p.Glu186Asp) | |
2 | g.162282397T= | CA1303149301 | IFIH1 | c.*872A= (n.*872A=) c.1275A= (p.Glu425=) n.885A= c.963A= (p.Glu321=) c.558A= (p.Glu186=) | |
2 | g.162282398T>A | CA349002708 | IFIH1 | c.*871A>T (n.*871A>T) c.1274A>T (p.Glu425Val) n.884A>T c.962A>T (p.Glu321Val) c.557A>T (p.Glu186Val) | |
2 | g.162282398T>C | CA349002709 | IFIH1 | c.*871A>G (n.*871A>G) c.1274A>G (p.Glu425Gly) n.884A>G c.962A>G (p.Glu321Gly) c.557A>G (p.Glu186Gly) | |
2 | g.162282398T>G | CA349002710 | IFIH1 | c.*871A>C (n.*871A>C) c.1274A>C (p.Glu425Ala) n.884A>C c.962A>C (p.Glu321Ala) c.557A>C (p.Glu186Ala) | |
2 | g.162282399C>A | CA59665743 | IFIH1 | c.*870G>T (n.*870G>T) c.1273G>T (p.Glu425Ter) n.883G>T c.961G>T (p.Glu321Ter) c.556G>T (p.Glu186Ter) | dbSNP gnomAD v4 |
2 | g.162282399C= | CA1303149302 | IFIH1 | c.*870G= (n.*870G=) c.1273G= (p.Glu425=) n.883G= c.961G= (p.Glu321=) c.556G= (p.Glu186=) | |
2 | g.162282399C>G | CA349002711 | IFIH1 | c.*870G>C (n.*870G>C) c.1273G>C (p.Glu425Gln) n.883G>C c.961G>C (p.Glu321Gln) c.556G>C (p.Glu186Gln) | |
2 | g.162282399C>T | CA349002712 | IFIH1 | c.*870G>A (n.*870G>A) c.1273G>A (p.Glu425Lys) n.883G>A c.961G>A (p.Glu321Lys) c.556G>A (p.Glu186Lys) | |
2 | g.162282400C>A | CA349002713 | IFIH1 | c.*869G>T (n.*869G>T) c.1272G>T (p.Leu424Phe) n.882G>T c.960G>T (p.Leu320Phe) c.555G>T (p.Leu185Phe) | |
2 | g.162282400C>G | CA349002714 | IFIH1 | c.*869G>C (n.*869G>C) c.1272G>C (p.Leu424Phe) n.882G>C c.960G>C (p.Leu320Phe) c.555G>C (p.Leu185Phe) | |
2 | g.162282400C>T | CA429535969 | IFIH1 | c.*869G>A (n.*869G>A) c.1272G>A (p.Leu424=) n.882G>A c.960G>A (p.Leu320=) c.555G>A (p.Leu185=) | |
2 | g.162282400_162282401delinsCA | CA1303149303 | IFIH1 | c.*868_*869delinsTG (n.*868_*869delinsTG) c.1271_1272delinsTG (p.Leu424=) n.881_882delinsTG c.959_960delinsTG (p.Leu320=) c.554_555delinsTG (p.Leu185=) | |
2 | g.162282401A>C | CA349002717 | IFIH1 | c.*868T>G (n.*868T>G) c.1271T>G (p.Leu424Trp) n.881T>G c.959T>G (p.Leu320Trp) c.554T>G (p.Leu185Trp) | |
2 | g.162282401A>G | CA349002715 | IFIH1 | c.*868T>C (n.*868T>C) c.1271T>C (p.Leu424Ser) n.881T>C c.959T>C (p.Leu320Ser) c.554T>C (p.Leu185Ser) | |
2 | g.162282401A>T | CA349002716 | IFIH1 | c.*868T>A (n.*868T>A) c.1271T>A (p.Leu424Ter) n.881T>A c.959T>A (p.Leu320Ter) c.554T>A (p.Leu185Ter) | |
2 | g.162282402del | CA759857621 | IFIH1 | c.*868del (n.*868del) c.1271del (p.Leu424TrpfsTer?) n.881del c.959del (p.Leu320TrpfsTer?) c.554del (p.Leu185TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.162282402A= | CA1303149304 | IFIH1 | c.*867T= (n.*867T=) c.1270T= (p.Leu424=) n.880T= c.958T= (p.Leu320=) c.553T= (p.Leu185=) | |
2 | g.162282402A>C | CA349002718 | IFIH1 | c.*867T>G (n.*867T>G) c.1270T>G (p.Leu424Val) n.880T>G c.958T>G (p.Leu320Val) c.553T>G (p.Leu185Val) | ClinVar dbSNP gnomAD v4 |
2 | g.162282402A>G | CA1934578 | IFIH1 | c.*867T>C (n.*867T>C) c.1270T>C (p.Leu424=) n.880T>C c.958T>C (p.Leu320=) c.553T>C (p.Leu185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282402A>T | CA349002719 | IFIH1 | c.*867T>A (n.*867T>A) c.1270T>A (p.Leu424Met) n.880T>A c.958T>A (p.Leu320Met) c.553T>A (p.Leu185Met) | gnomAD v4 |
2 | g.162282403G>A | CA429535972 | IFIH1 | c.*866C>T (n.*866C>T) c.1269C>T (p.Asn423=) n.879C>T c.957C>T (p.Asn319=) c.552C>T (p.Asn184=) | dbSNP |
2 | g.162282403G>C | CA349002720 | IFIH1 | c.*866C>G (n.*866C>G) c.1269C>G (p.Asn423Lys) n.879C>G c.957C>G (p.Asn319Lys) c.552C>G (p.Asn184Lys) | |
2 | g.162282403G= | CA1303149305 | IFIH1 | c.*866C= (n.*866C=) c.1269C= (p.Asn423=) n.879C= c.957C= (p.Asn319=) c.552C= (p.Asn184=) | |
2 | g.162282403G>T | CA349002721 | IFIH1 | c.*866C>A (n.*866C>A) c.1269C>A (p.Asn423Lys) n.879C>A c.957C>A (p.Asn319Lys) c.552C>A (p.Asn184Lys) | |
2 | g.162282404T>A | CA349002722 | IFIH1 | c.*865A>T (n.*865A>T) c.1268A>T (p.Asn423Ile) n.878A>T c.956A>T (p.Asn319Ile) c.551A>T (p.Asn184Ile) | |
2 | g.162282404T>C | CA349002723 | IFIH1 | c.*865A>G (n.*865A>G) c.1268A>G (p.Asn423Ser) n.878A>G c.956A>G (p.Asn319Ser) c.551A>G (p.Asn184Ser) | |
2 | g.162282404T>G | CA349002724 | IFIH1 | c.*865A>C (n.*865A>C) c.1268A>C (p.Asn423Thr) n.878A>C c.956A>C (p.Asn319Thr) c.551A>C (p.Asn184Thr) | |
2 | g.162282405T>A | CA349002725 | IFIH1 | c.*864A>T (n.*864A>T) c.1267A>T (p.Asn423Tyr) n.877A>T c.955A>T (p.Asn319Tyr) c.550A>T (p.Asn184Tyr) | |
2 | g.162282405T>C | CA349002726 | IFIH1 | c.*864A>G (n.*864A>G) c.1267A>G (p.Asn423Asp) n.877A>G c.955A>G (p.Asn319Asp) c.550A>G (p.Asn184Asp) | |
2 | g.162282405T>G | CA349002727 | IFIH1 | c.*864A>C (n.*864A>C) c.1267A>C (p.Asn423His) n.877A>C c.955A>C (p.Asn319His) c.550A>C (p.Asn184His) | |
2 | g.162282406T>A | CA349002728 | IFIH1 | c.*863A>T (n.*863A>T) c.1266A>T (p.Leu422Phe) n.876A>T c.954A>T (p.Leu318Phe) c.549A>T (p.Leu183Phe) | |
2 | g.162282406T>C | CA429535977 | IFIH1 | c.*863A>G (n.*863A>G) c.1266A>G (p.Leu422=) n.876A>G c.954A>G (p.Leu318=) c.549A>G (p.Leu183=) | |
2 | g.162282406T>G | CA349002729 | IFIH1 | c.*863A>C (n.*863A>C) c.1266A>C (p.Leu422Phe) n.876A>C c.954A>C (p.Leu318Phe) c.549A>C (p.Leu183Phe) | |
2 | g.162282407A>C | CA349002731 | IFIH1 | c.*862T>G (n.*862T>G) c.1265T>G (p.Leu422Ter) n.875T>G c.953T>G (p.Leu318Ter) c.548T>G (p.Leu183Ter) | |
2 | g.162282407A>G | CA349002732 | IFIH1 | c.*862T>C (n.*862T>C) c.1265T>C (p.Leu422Ser) n.875T>C c.953T>C (p.Leu318Ser) c.548T>C (p.Leu183Ser) | |
2 | g.162282407A>T | CA349002730 | IFIH1 | c.*862T>A (n.*862T>A) c.1265T>A (p.Leu422Ter) n.875T>A c.953T>A (p.Leu318Ter) c.548T>A (p.Leu183Ter) | |
2 | g.162282408A>C | CA349002733 | IFIH1 | c.*861T>G (n.*861T>G) c.1264T>G (p.Leu422Val) n.874T>G c.952T>G (p.Leu318Val) c.547T>G (p.Leu183Val) | |
2 | g.162282408A>G | CA429535979 | IFIH1 | c.*861T>C (n.*861T>C) c.1264T>C (p.Leu422=) n.874T>C c.952T>C (p.Leu318=) c.547T>C (p.Leu183=) | |
2 | g.162282408A>T | CA349002734 | IFIH1 | c.*861T>A (n.*861T>A) c.1264T>A (p.Leu422Ile) n.874T>A c.952T>A (p.Leu318Ile) c.547T>A (p.Leu183Ile) | |
2 | g.162282409G>A | CA1934579 | IFIH1 | c.*860C>T (n.*860C>T) c.1263C>T (p.Leu421=) n.873C>T c.951C>T (p.Leu317=) c.546C>T (p.Leu182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282409G>C | CA429535980 | IFIH1 | c.*860C>G (n.*860C>G) c.1263C>G (p.Leu421=) n.873C>G c.951C>G (p.Leu317=) c.546C>G (p.Leu182=) | |
2 | g.162282409G= | CA1303149306 | IFIH1 | c.*860C= (n.*860C=) c.1263C= (p.Leu421=) n.873C= c.951C= (p.Leu317=) c.546C= (p.Leu182=) | |
2 | g.162282409G>T | CA429535981 | IFIH1 | c.*860C>A (n.*860C>A) c.1263C>A (p.Leu421=) n.873C>A c.951C>A (p.Leu317=) c.546C>A (p.Leu182=) | |
2 | g.162282409_162282410insTGTTTATTTTTTTAAAAAAATTAATAGTAATATTGATGATAACAA | CA2572436005 | IFIH1 | c.*859_*860insTTGTTATCATCAATATTACTATTAATTTTTTTAAAAAAATAAACA (n.*859_*860insTTGTTATCATCAATATTACTATTAATTTTTTTAAAAAAATAAACA) c.1262_1263insTTGTTATCATCAATATTACTATTAATTTTTTTAAAAAAATAAACA (p.Leu422CysfsTer8) n.872_873insTTGTTATCATCAATATTACTATTAATTTTTTTAAAAAAATAAACA c.950_951insTTGTTATCATCAATATTACTATTAATTTTTTTAAAAAAATAAACA (p.Leu318CysfsTer8) c.545_546insTTGTTATCATCAATATTACTATTAATTTTTTTAAAAAAATAAACA (p.Leu183CysfsTer8) | |
2 | g.162282410A>C | CA349002735 | IFIH1 | c.*859T>G (n.*859T>G) c.1262T>G (p.Leu421Arg) n.872T>G c.950T>G (p.Leu317Arg) c.545T>G (p.Leu182Arg) | |
2 | g.162282410A>G | CA349002736 | IFIH1 | c.*859T>C (n.*859T>C) c.1262T>C (p.Leu421Pro) n.872T>C c.950T>C (p.Leu317Pro) c.545T>C (p.Leu182Pro) | |
2 | g.162282410A>T | CA349002737 | IFIH1 | c.*859T>A (n.*859T>A) c.1262T>A (p.Leu421His) n.872T>A c.950T>A (p.Leu317His) c.545T>A (p.Leu182His) | |
2 | g.162282411G>A | CA349002738 | IFIH1 | c.*858C>T (n.*858C>T) c.1261C>T (p.Leu421Phe) n.871C>T c.949C>T (p.Leu317Phe) c.544C>T (p.Leu182Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282411G>C | CA349002739 | IFIH1 | c.*858C>G (n.*858C>G) c.1261C>G (p.Leu421Val) n.871C>G c.949C>G (p.Leu317Val) c.544C>G (p.Leu182Val) | |
2 | g.162282411G= | CA1303149307 | IFIH1 | c.*858C= (n.*858C=) c.1261C= (p.Leu421=) n.871C= c.949C= (p.Leu317=) c.544C= (p.Leu182=) | |
2 | g.162282411G>T | CA349002740 | IFIH1 | c.*858C>A (n.*858C>A) c.1261C>A (p.Leu421Ile) n.871C>A c.949C>A (p.Leu317Ile) c.544C>A (p.Leu182Ile) | gnomAD v4 |
2 | g.162282412G>A | CA1934580 | IFIH1 | c.*857C>T (n.*857C>T) c.1260C>T (p.Ser420=) n.870C>T c.948C>T (p.Ser316=) c.543C>T (p.Ser181=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282412G>C | CA429535986 | IFIH1 | c.*857C>G (n.*857C>G) c.1260C>G (p.Ser420=) n.870C>G c.948C>G (p.Ser316=) c.543C>G (p.Ser181=) | |
2 | g.162282412G= | CA1303149308 | IFIH1 | c.*857C= (n.*857C=) c.1260C= (p.Ser420=) n.870C= c.948C= (p.Ser316=) c.543C= (p.Ser181=) | |
2 | g.162282412G>T | CA429535987 | IFIH1 | c.*857C>A (n.*857C>A) c.1260C>A (p.Ser420=) n.870C>A c.948C>A (p.Ser316=) c.543C>A (p.Ser181=) | |
2 | g.162282413G>A | CA1934581 | IFIH1 | c.*856C>T (n.*856C>T) c.1259C>T (p.Ser420Phe) n.869C>T c.947C>T (p.Ser316Phe) c.542C>T (p.Ser181Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282413G>C | CA349002741 | IFIH1 | c.*856C>G (n.*856C>G) c.1259C>G (p.Ser420Cys) n.869C>G c.947C>G (p.Ser316Cys) c.542C>G (p.Ser181Cys) | dbSNP gnomAD v4 |
2 | g.162282413G= | CA1303149309 | IFIH1 | c.*856C= (n.*856C=) c.1259C= (p.Ser420=) n.869C= c.947C= (p.Ser316=) c.542C= (p.Ser181=) | |
2 | g.162282413G>T | CA349002742 | IFIH1 | c.*856C>A (n.*856C>A) c.1259C>A (p.Ser420Tyr) n.869C>A c.947C>A (p.Ser316Tyr) c.542C>A (p.Ser181Tyr) | |
2 | g.162282414A= | CA1303149310 | IFIH1 | c.*855T= (n.*855T=) c.1258T= (p.Ser420=) n.868T= c.946T= (p.Ser316=) c.541T= (p.Ser181=) | |
2 | g.162282414A>C | CA349002743 | IFIH1 | c.*855T>G (n.*855T>G) c.1258T>G (p.Ser420Ala) n.868T>G c.946T>G (p.Ser316Ala) c.541T>G (p.Ser181Ala) | dbSNP |
2 | g.162282414A>G | CA349002744 | IFIH1 | c.*855T>C (n.*855T>C) c.1258T>C (p.Ser420Pro) n.868T>C c.946T>C (p.Ser316Pro) c.541T>C (p.Ser181Pro) | |
2 | g.162282414A>T | CA349002745 | IFIH1 | c.*855T>A (n.*855T>A) c.1258T>A (p.Ser420Thr) n.868T>A c.946T>A (p.Ser316Thr) c.541T>A (p.Ser181Thr) | |
2 | g.162282415G>A | CA429535992 | IFIH1 | c.*854C>T (n.*854C>T) c.1257C>T (p.Asn419=) n.867C>T c.945C>T (p.Asn315=) c.540C>T (p.Asn180=) | gnomAD v4 |
2 | g.162282415G>C | CA349002746 | IFIH1 | c.*854C>G (n.*854C>G) c.1257C>G (p.Asn419Lys) n.867C>G c.945C>G (p.Asn315Lys) c.540C>G (p.Asn180Lys) | |
2 | g.162282415G>T | CA349002747 | IFIH1 | c.*854C>A (n.*854C>A) c.1257C>A (p.Asn419Lys) n.867C>A c.945C>A (p.Asn315Lys) c.540C>A (p.Asn180Lys) | |
2 | g.162282416T>A | CA349002748 | IFIH1 | c.*853A>T (n.*853A>T) c.1256A>T (p.Asn419Ile) n.866A>T c.944A>T (p.Asn315Ile) c.539A>T (p.Asn180Ile) | |
2 | g.162282416T>C | CA349002749 | IFIH1 | c.*853A>G (n.*853A>G) c.1256A>G (p.Asn419Ser) n.866A>G c.944A>G (p.Asn315Ser) c.539A>G (p.Asn180Ser) | |
2 | g.162282416T>G | CA349002750 | IFIH1 | c.*853A>C (n.*853A>C) c.1256A>C (p.Asn419Thr) n.866A>C c.944A>C (p.Asn315Thr) c.539A>C (p.Asn180Thr) | |
2 | g.162282417T>A | CA349002751 | IFIH1 | c.*852A>T (n.*852A>T) c.1255A>T (p.Asn419Tyr) n.865A>T c.943A>T (p.Asn315Tyr) c.538A>T (p.Asn180Tyr) | |
2 | g.162282417T>C | CA349002752 | IFIH1 | c.*852A>G (n.*852A>G) c.1255A>G (p.Asn419Asp) n.865A>G c.943A>G (p.Asn315Asp) c.538A>G (p.Asn180Asp) | gnomAD v4 |
2 | g.162282417T>G | CA349002753 | IFIH1 | c.*852A>C (n.*852A>C) c.1255A>C (p.Asn419His) n.865A>C c.943A>C (p.Asn315His) c.538A>C (p.Asn180His) | |
2 | g.162282418T>A | CA349002754 | IFIH1 | c.*851A>T (n.*851A>T) c.1254A>T (p.Glu418Asp) n.864A>T c.942A>T (p.Glu314Asp) c.537A>T (p.Glu179Asp) | |
2 | g.162282418T>C | CA429535997 | IFIH1 | c.*851A>G (n.*851A>G) c.1254A>G (p.Glu418=) n.864A>G c.942A>G (p.Glu314=) c.537A>G (p.Glu179=) | |
2 | g.162282418T>G | CA349002755 | IFIH1 | c.*851A>C (n.*851A>C) c.1254A>C (p.Glu418Asp) n.864A>C c.942A>C (p.Glu314Asp) c.537A>C (p.Glu179Asp) | |
2 | g.162282419T>A | CA349002756 | IFIH1 | c.*850A>T (n.*850A>T) c.1253A>T (p.Glu418Val) n.863A>T c.941A>T (p.Glu314Val) c.536A>T (p.Glu179Val) | |
2 | g.162282419T>C | CA349002757 | IFIH1 | c.*850A>G (n.*850A>G) c.1253A>G (p.Glu418Gly) n.863A>G c.941A>G (p.Glu314Gly) c.536A>G (p.Glu179Gly) | gnomAD v4 |
2 | g.162282419T>G | CA349002758 | IFIH1 | c.*850A>C (n.*850A>C) c.1253A>C (p.Glu418Ala) n.863A>C c.941A>C (p.Glu314Ala) c.536A>C (p.Glu179Ala) | |
2 | g.162282420C>A | CA349002761 | IFIH1 | c.*849G>T (n.*849G>T) c.1252G>T (p.Glu418Ter) n.862G>T c.940G>T (p.Glu314Ter) c.535G>T (p.Glu179Ter) | |
2 | g.162282420C>G | CA349002760 | IFIH1 | c.*849G>C (n.*849G>C) c.1252G>C (p.Glu418Gln) n.862G>C c.940G>C (p.Glu314Gln) c.535G>C (p.Glu179Gln) | |
2 | g.162282420C>T | CA349002759 | IFIH1 | c.*849G>A (n.*849G>A) c.1252G>A (p.Glu418Lys) n.862G>A c.940G>A (p.Glu314Lys) c.535G>A (p.Glu179Lys) | |
2 | g.162282421A>C | CA429536001 | IFIH1 | c.*848T>G (n.*848T>G) c.1251T>G (p.Leu417=) n.861T>G c.939T>G (p.Leu313=) c.534T>G (p.Leu178=) | |
2 | g.162282421A>G | CA429536003 | IFIH1 | c.*848T>C (n.*848T>C) c.1251T>C (p.Leu417=) n.861T>C c.939T>C (p.Leu313=) c.534T>C (p.Leu178=) | |
2 | g.162282421A>T | CA429536002 | IFIH1 | c.*848T>A (n.*848T>A) c.1251T>A (p.Leu417=) n.861T>A c.939T>A (p.Leu313=) c.534T>A (p.Leu178=) | |
2 | g.162282422A= | CA1303149311 | IFIH1 | c.*847T= (n.*847T=) c.1250T= (p.Leu417=) n.860T= c.938T= (p.Leu313=) c.533T= (p.Leu178=) | |
2 | g.162282422A>C | CA349002762 | IFIH1 | c.*847T>G (n.*847T>G) c.1250T>G (p.Leu417Arg) n.860T>G c.938T>G (p.Leu313Arg) c.533T>G (p.Leu178Arg) | |
2 | g.162282422A>G | CA349002763 | IFIH1 | c.*847T>C (n.*847T>C) c.1250T>C (p.Leu417Pro) n.860T>C c.938T>C (p.Leu313Pro) c.533T>C (p.Leu178Pro) | |
2 | g.162282422A>T | CA349002764 | IFIH1 | c.*847T>A (n.*847T>A) c.1250T>A (p.Leu417His) n.860T>A c.938T>A (p.Leu313His) c.533T>A (p.Leu178His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282423G>A | CA349002765 | IFIH1 | c.*846C>T (n.*846C>T) c.1249C>T (p.Leu417Phe) n.859C>T c.937C>T (p.Leu313Phe) c.532C>T (p.Leu178Phe) | |
2 | g.162282423G>C | CA349002766 | IFIH1 | c.*846C>G (n.*846C>G) c.1249C>G (p.Leu417Val) n.859C>G c.937C>G (p.Leu313Val) c.532C>G (p.Leu178Val) | |
2 | g.162282423G= | CA1303149312 | IFIH1 | c.*846C= (n.*846C=) c.1249C= (p.Leu417=) n.859C= c.937C= (p.Leu313=) c.532C= (p.Leu178=) | |
2 | g.162282423G>T | CA1934582 | IFIH1 | c.*846C>A (n.*846C>A) c.1249C>A (p.Leu417Ile) n.859C>A c.937C>A (p.Leu313Ile) c.532C>A (p.Leu178Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282424G>A | CA429536008 | IFIH1 | c.*845C>T (n.*845C>T) c.1248C>T (p.Ile416=) n.858C>T c.936C>T (p.Ile312=) c.531C>T (p.Ile177=) | |
2 | g.162282424G>C | CA349002767 | IFIH1 | c.*845C>G (n.*845C>G) c.1248C>G (p.Ile416Met) n.858C>G c.936C>G (p.Ile312Met) c.531C>G (p.Ile177Met) | |
2 | g.162282424G= | CA1303149313 | IFIH1 | c.*845C= (n.*845C=) c.1248C= (p.Ile416=) n.858C= c.936C= (p.Ile312=) c.531C= (p.Ile177=) | |
2 | g.162282424G>T | CA59665800 | IFIH1 | c.*845C>A (n.*845C>A) c.1248C>A (p.Ile416=) n.858C>A c.936C>A (p.Ile312=) c.531C>A (p.Ile177=) | dbSNP gnomAD v4 |
2 | g.162282425A>C | CA349002768 | IFIH1 | c.*844T>G (n.*844T>G) c.1247T>G (p.Ile416Ser) n.857T>G c.935T>G (p.Ile312Ser) c.530T>G (p.Ile177Ser) | |
2 | g.162282425A>G | CA349002769 | IFIH1 | c.*844T>C (n.*844T>C) c.1247T>C (p.Ile416Thr) n.857T>C c.935T>C (p.Ile312Thr) c.530T>C (p.Ile177Thr) | |
2 | g.162282425A>T | CA349002770 | IFIH1 | c.*844T>A (n.*844T>A) c.1247T>A (p.Ile416Asn) n.857T>A c.935T>A (p.Ile312Asn) c.530T>A (p.Ile177Asn) | |
2 | g.162282426T>A | CA349002771 | IFIH1 | c.*843A>T (n.*843A>T) c.1246A>T (p.Ile416Phe) n.856A>T c.934A>T (p.Ile312Phe) c.529A>T (p.Ile177Phe) | |
2 | g.162282426T>C | CA59665801 | IFIH1 | c.*843A>G (n.*843A>G) c.1246A>G (p.Ile416Val) n.856A>G c.934A>G (p.Ile312Val) c.529A>G (p.Ile177Val) | dbSNP |
2 | g.162282426T>G | CA349002772 | IFIH1 | c.*843A>C (n.*843A>C) c.1246A>C (p.Ile416Leu) n.856A>C c.934A>C (p.Ile312Leu) c.529A>C (p.Ile177Leu) | ClinVar |
2 | g.162282426T= | CA1303149314 | IFIH1 | c.*843A= (n.*843A=) c.1246A= (p.Ile416=) n.856A= c.934A= (p.Ile312=) c.529A= (p.Ile177=) | |
2 | g.162282427T>A | CA349002774 | IFIH1 | c.*842A>T (n.*842A>T) c.1245A>T (p.Gln415His) n.855A>T c.933A>T (p.Gln311His) c.528A>T (p.Gln176His) | |
2 | g.162282427T>C | CA429536012 | IFIH1 | c.*842A>G (n.*842A>G) c.1245A>G (p.Gln415=) n.855A>G c.933A>G (p.Gln311=) c.528A>G (p.Gln176=) | |
2 | g.162282427T>G | CA349002773 | IFIH1 | c.*842A>C (n.*842A>C) c.1245A>C (p.Gln415His) n.855A>C c.933A>C (p.Gln311His) c.528A>C (p.Gln176His) | |
2 | g.162282428T>A | CA349002775 | IFIH1 | c.*841A>T (n.*841A>T) c.1244A>T (p.Gln415Leu) n.854A>T c.932A>T (p.Gln311Leu) c.527A>T (p.Gln176Leu) | |
2 | g.162282428T>C | CA349002776 | IFIH1 | c.*841A>G (n.*841A>G) c.1244A>G (p.Gln415Arg) n.854A>G c.932A>G (p.Gln311Arg) c.527A>G (p.Gln176Arg) | |
2 | g.162282428T>G | CA349002777 | IFIH1 | c.*841A>C (n.*841A>C) c.1244A>C (p.Gln415Pro) n.854A>C c.932A>C (p.Gln311Pro) c.527A>C (p.Gln176Pro) | |
2 | g.162282429G>A | CA349002778 | IFIH1 | c.*840C>T (n.*840C>T) c.1243C>T (p.Gln415Ter) n.853C>T c.931C>T (p.Gln311Ter) c.526C>T (p.Gln176Ter) | gnomAD v4 |
2 | g.162282429G>C | CA349002779 | IFIH1 | c.*840C>G (n.*840C>G) c.1243C>G (p.Gln415Glu) n.853C>G c.931C>G (p.Gln311Glu) c.526C>G (p.Gln176Glu) | |
2 | g.162282429G= | CA1303149315 | IFIH1 | c.*840C= (n.*840C=) c.1243C= (p.Gln415=) n.853C= c.931C= (p.Gln311=) c.526C= (p.Gln176=) | |
2 | g.162282429G>T | CA1934583 | IFIH1 | c.*840C>A (n.*840C>A) c.1243C>A (p.Gln415Lys) n.853C>A c.931C>A (p.Gln311Lys) c.526C>A (p.Gln176Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282430A>C | CA429536013 | IFIH1 | c.*839T>G (n.*839T>G) c.1242T>G (p.Ala414=) n.852T>G c.930T>G (p.Ala310=) c.525T>G (p.Ala175=) | |
2 | g.162282430A>G | CA429536014 | IFIH1 | c.*839T>C (n.*839T>C) c.1242T>C (p.Ala414=) n.852T>C c.930T>C (p.Ala310=) c.525T>C (p.Ala175=) | |
2 | g.162282430A>T | CA429536015 | IFIH1 | c.*839T>A (n.*839T>A) c.1242T>A (p.Ala414=) n.852T>A c.930T>A (p.Ala310=) c.525T>A (p.Ala175=) | |
2 | g.162282431G>A | CA349002780 | IFIH1 | c.*838C>T (n.*838C>T) c.1241C>T (p.Ala414Val) n.851C>T c.929C>T (p.Ala310Val) c.524C>T (p.Ala175Val) | |
2 | g.162282431G>C | CA349002781 | IFIH1 | c.*838C>G (n.*838C>G) c.1241C>G (p.Ala414Gly) n.851C>G c.929C>G (p.Ala310Gly) c.524C>G (p.Ala175Gly) | |
2 | g.162282431G>T | CA349002782 | IFIH1 | c.*838C>A (n.*838C>A) c.1241C>A (p.Ala414Asp) n.851C>A c.929C>A (p.Ala310Asp) c.524C>A (p.Ala175Asp) | |
2 | g.162282432C>A | CA349002783 | IFIH1 | c.*837G>T (n.*837G>T) c.1240G>T (p.Ala414Ser) n.850G>T c.928G>T (p.Ala310Ser) c.523G>T (p.Ala175Ser) | |
2 | g.162282432C= | CA1303149316 | IFIH1 | c.*837G= (n.*837G=) c.1240G= (p.Ala414=) n.850G= c.928G= (p.Ala310=) c.523G= (p.Ala175=) | |
2 | g.162282432C>G | CA1934584 | IFIH1 | c.*837G>C (n.*837G>C) c.1240G>C (p.Ala414Pro) n.850G>C c.928G>C (p.Ala310Pro) c.523G>C (p.Ala175Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282432C>T | CA349002784 | IFIH1 | c.*837G>A (n.*837G>A) c.1240G>A (p.Ala414Thr) n.850G>A c.928G>A (p.Ala310Thr) c.523G>A (p.Ala175Thr) | COSMIC |
2 | g.162282433T>A | CA429536016 | IFIH1 | c.*836A>T (n.*836A>T) c.1239A>T (p.Thr413=) n.849A>T c.927A>T (p.Thr309=) c.522A>T (p.Thr174=) | |
2 | g.162282433T>C | CA429536018 | IFIH1 | c.*836A>G (n.*836A>G) c.1239A>G (p.Thr413=) n.849A>G c.927A>G (p.Thr309=) c.522A>G (p.Thr174=) | ClinVar gnomAD v4 |
2 | g.162282433T>G | CA429536017 | IFIH1 | c.*836A>C (n.*836A>C) c.1239A>C (p.Thr413=) n.849A>C c.927A>C (p.Thr309=) c.522A>C (p.Thr174=) | |
2 | g.162282434_162282435del | CA2586970159 | IFIH1 | c.*835_*836del (n.*835_*836del) c.1238_1239del (p.Thr413SerfsTer5) n.848_849del c.926_927del (p.Thr309SerfsTer5) c.521_522del (p.Thr174SerfsTer5) | |
2 | g.162282434G>A | CA349002786 | IFIH1 | c.*835C>T (n.*835C>T) c.1238C>T (p.Thr413Ile) n.848C>T c.926C>T (p.Thr309Ile) c.521C>T (p.Thr174Ile) | ClinVar dbSNP |
2 | g.162282434G>C | CA1934585 | IFIH1 | c.*835C>G (n.*835C>G) c.1238C>G (p.Thr413Arg) n.848C>G c.926C>G (p.Thr309Arg) c.521C>G (p.Thr174Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282434G= | CA1303149317 | IFIH1 | c.*835C= (n.*835C=) c.1238C= (p.Thr413=) n.848C= c.926C= (p.Thr309=) c.521C= (p.Thr174=) | |
2 | g.162282434G>T | CA349002785 | IFIH1 | c.*835C>A (n.*835C>A) c.1238C>A (p.Thr413Lys) n.848C>A c.926C>A (p.Thr309Lys) c.521C>A (p.Thr174Lys) | |
2 | g.162282435T>A | CA349002787 | IFIH1 | c.*834A>T (n.*834A>T) c.1237A>T (p.Thr413Ser) n.847A>T c.925A>T (p.Thr309Ser) c.520A>T (p.Thr174Ser) | |
2 | g.162282435T>C | CA349002789 | IFIH1 | c.*834A>G (n.*834A>G) c.1237A>G (p.Thr413Ala) n.847A>G c.925A>G (p.Thr309Ala) c.520A>G (p.Thr174Ala) | gnomAD v4 |
2 | g.162282435T>G | CA349002788 | IFIH1 | c.*834A>C (n.*834A>C) c.1237A>C (p.Thr413Pro) n.847A>C c.925A>C (p.Thr309Pro) c.520A>C (p.Thr174Pro) | |
2 | g.162282436A>C | CA349002790 | IFIH1 | c.*833T>G (n.*833T>G) c.1236T>G (p.Ser412Arg) n.846T>G c.924T>G (p.Ser308Arg) c.519T>G (p.Ser173Arg) | |
2 | g.162282436A>G | CA429536020 | IFIH1 | c.*833T>C (n.*833T>C) c.1236T>C (p.Ser412=) n.846T>C c.924T>C (p.Ser308=) c.519T>C (p.Ser173=) | ClinVar gnomAD v4 |
2 | g.162282436A>T | CA349002791 | IFIH1 | c.*833T>A (n.*833T>A) c.1236T>A (p.Ser412Arg) n.846T>A c.924T>A (p.Ser308Arg) c.519T>A (p.Ser173Arg) | |
2 | g.162282437C>A | CA349002792 | IFIH1 | c.*832G>T (n.*832G>T) c.1235G>T (p.Ser412Ile) n.845G>T c.923G>T (p.Ser308Ile) c.518G>T (p.Ser173Ile) | |
2 | g.162282437C>G | CA349002793 | IFIH1 | c.*832G>C (n.*832G>C) c.1235G>C (p.Ser412Thr) n.845G>C c.923G>C (p.Ser308Thr) c.518G>C (p.Ser173Thr) | |
2 | g.162282437C>T | CA349002794 | IFIH1 | c.*832G>A (n.*832G>A) c.1235G>A (p.Ser412Asn) n.845G>A c.923G>A (p.Ser308Asn) c.518G>A (p.Ser173Asn) | |
2 | g.162282438T>A | CA349002795 | IFIH1 | c.*831A>T (n.*831A>T) c.1234A>T (p.Ser412Cys) n.844A>T c.922A>T (p.Ser308Cys) c.517A>T (p.Ser173Cys) | |
2 | g.162282438T>C | CA349002796 | IFIH1 | c.*831A>G (n.*831A>G) c.1234A>G (p.Ser412Gly) n.844A>G c.922A>G (p.Ser308Gly) c.517A>G (p.Ser173Gly) | |
2 | g.162282438T>G | CA349002797 | IFIH1 | c.*831A>C (n.*831A>C) c.1234A>C (p.Ser412Arg) n.844A>C c.922A>C (p.Ser308Arg) c.517A>C (p.Ser173Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282438T= | CA1303149318 | IFIH1 | c.*831A= (n.*831A=) c.1234A= (p.Ser412=) n.844A= c.922A= (p.Ser308=) c.517A= (p.Ser173=) | |
2 | g.162282439G>A | CA429536023 | IFIH1 | c.*830C>T (n.*830C>T) c.1233C>T (p.Ile411=) n.843C>T c.921C>T (p.Ile307=) c.516C>T (p.Ile172=) | |
2 | g.162282439G>C | CA349002798 | IFIH1 | c.*830C>G (n.*830C>G) c.1233C>G (p.Ile411Met) n.843C>G c.921C>G (p.Ile307Met) c.516C>G (p.Ile172Met) | |
2 | g.162282439G>T | CA429536025 | IFIH1 | c.*830C>A (n.*830C>A) c.1233C>A (p.Ile411=) n.843C>A c.921C>A (p.Ile307=) c.516C>A (p.Ile172=) | |
2 | g.162282439_162282442delinsGATA | CA1303149319 | IFIH1 | c.*827_*830delinsTATC (n.*827_*830delinsTATC) c.1230_1233delinsTATC (p.Ile410=) n.840_843delinsTATC c.918_921delinsTATC (p.Ile306=) c.513_516delinsTATC (p.Ile171=) | |
2 | g.162282440A= | CA1303149320 | IFIH1 | c.*829T= (n.*829T=) c.1232T= (p.Ile411=) n.842T= c.920T= (p.Ile307=) c.515T= (p.Ile172=) | |
2 | g.162282440A>C | CA349002799 | IFIH1 | c.*829T>G (n.*829T>G) c.1232T>G (p.Ile411Ser) n.842T>G c.920T>G (p.Ile307Ser) c.515T>G (p.Ile172Ser) | |
2 | g.162282440A>G | CA349002800 | IFIH1 | c.*829T>C (n.*829T>C) c.1232T>C (p.Ile411Thr) n.842T>C c.920T>C (p.Ile307Thr) c.515T>C (p.Ile172Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.162282440A>T | CA349002801 | IFIH1 | c.*829T>A (n.*829T>A) c.1232T>A (p.Ile411Asn) n.842T>A c.920T>A (p.Ile307Asn) c.515T>A (p.Ile172Asn) | |
2 | g.162282446_162282448del | CA537507540 | IFIH1 | c.*827_*829del (n.*827_*829del) c.1230_1232del (p.Ile411del) n.840_842del c.918_920del (p.Ile307del) c.513_515del (p.Ile172del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.162282441T>A | CA349002802 | IFIH1 | c.*828A>T (n.*828A>T) c.1231A>T (p.Ile411Phe) n.841A>T c.919A>T (p.Ile307Phe) c.514A>T (p.Ile172Phe) | |
2 | g.162282441T>C | CA349002803 | IFIH1 | c.*828A>G (n.*828A>G) c.1231A>G (p.Ile411Val) n.841A>G c.919A>G (p.Ile307Val) c.514A>G (p.Ile172Val) | dbSNP |
2 | g.162282441T>G | CA349002804 | IFIH1 | c.*828A>C (n.*828A>C) c.1231A>C (p.Ile411Leu) n.841A>C c.919A>C (p.Ile307Leu) c.514A>C (p.Ile172Leu) | |
2 | g.162282442A>C | CA349002805 | IFIH1 | c.*827T>G (n.*827T>G) c.1230T>G (p.Ile410Met) n.840T>G c.918T>G (p.Ile306Met) c.513T>G (p.Ile171Met) | dbSNP gnomAD v4 |
2 | g.162282442A>G | CA429536026 | IFIH1 | c.*827T>C (n.*827T>C) c.1230T>C (p.Ile410=) n.840T>C c.918T>C (p.Ile306=) c.513T>C (p.Ile171=) | |
2 | g.162282442A>T | CA429536027 | IFIH1 | c.*827T>A (n.*827T>A) c.1230T>A (p.Ile410=) n.840T>A c.918T>A (p.Ile306=) c.513T>A (p.Ile171=) | |
2 | g.162282443A= | CA1303149321 | IFIH1 | c.*826T= (n.*826T=) c.1229T= (p.Ile410=) n.839T= c.917T= (p.Ile306=) c.512T= (p.Ile171=) | |
2 | g.162282443A>C | CA1934586 | IFIH1 | c.*826T>G (n.*826T>G) c.1229T>G (p.Ile410Ser) n.839T>G c.917T>G (p.Ile306Ser) c.512T>G (p.Ile171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282443A>G | CA16603898 | IFIH1 | c.*826T>C (n.*826T>C) c.1229T>C (p.Ile410Thr) n.839T>C c.917T>C (p.Ile306Thr) c.512T>C (p.Ile171Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.162282443A>T | CA349002806 | IFIH1 | c.*826T>A (n.*826T>A) c.1229T>A (p.Ile410Asn) n.839T>A c.917T>A (p.Ile306Asn) c.512T>A (p.Ile171Asn) | dbSNP |
2 | g.162282444T>A | CA349002807 | IFIH1 | c.*825A>T (n.*825A>T) c.1228A>T (p.Ile410Phe) n.838A>T c.916A>T (p.Ile306Phe) c.511A>T (p.Ile171Phe) | |
2 | g.162282444T>C | CA1934587 | IFIH1 | c.*825A>G (n.*825A>G) c.1228A>G (p.Ile410Val) n.838A>G c.916A>G (p.Ile306Val) c.511A>G (p.Ile171Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282444T>G | CA349002808 | IFIH1 | c.*825A>C (n.*825A>C) c.1228A>C (p.Ile410Leu) n.838A>C c.916A>C (p.Ile306Leu) c.511A>C (p.Ile171Leu) | |
2 | g.162282444T= | CA1303149322 | IFIH1 | c.*825A= (n.*825A=) c.1228A= (p.Ile410=) n.838A= c.916A= (p.Ile306=) c.511A= (p.Ile171=) | |
2 | g.162282445A>C | CA349002809 | IFIH1 | c.*824T>G (n.*824T>G) c.1227T>G (p.Ile409Met) n.837T>G c.915T>G (p.Ile305Met) c.510T>G (p.Ile170Met) | |
2 | g.162282445A>G | CA429536029 | IFIH1 | c.*824T>C (n.*824T>C) c.1227T>C (p.Ile409=) n.837T>C c.915T>C (p.Ile305=) c.510T>C (p.Ile170=) | |
2 | g.162282445A>T | CA429536030 | IFIH1 | c.*824T>A (n.*824T>A) c.1227T>A (p.Ile409=) n.837T>A c.915T>A (p.Ile305=) c.510T>A (p.Ile170=) | |
2 | g.162282446A= | CA1303149323 | IFIH1 | c.*823T= (n.*823T=) c.1226T= (p.Ile409=) n.836T= c.914T= (p.Ile305=) c.509T= (p.Ile170=) | |
2 | g.162282446A>C | CA349002810 | IFIH1 | c.*823T>G (n.*823T>G) c.1226T>G (p.Ile409Ser) n.836T>G c.914T>G (p.Ile305Ser) c.509T>G (p.Ile170Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282446A>G | CA349002811 | IFIH1 | c.*823T>C (n.*823T>C) c.1226T>C (p.Ile409Thr) n.836T>C c.914T>C (p.Ile305Thr) c.509T>C (p.Ile170Thr) | |
2 | g.162282446A>T | CA349002812 | IFIH1 | c.*823T>A (n.*823T>A) c.1226T>A (p.Ile409Asn) n.836T>A c.914T>A (p.Ile305Asn) c.509T>A (p.Ile170Asn) | dbSNP |
2 | g.162282447T>A | CA349002813 | IFIH1 | c.*822A>T (n.*822A>T) c.1225A>T (p.Ile409Phe) n.835A>T c.913A>T (p.Ile305Phe) c.508A>T (p.Ile170Phe) | |
2 | g.162282447T>C | CA1934588 | IFIH1 | c.*822A>G (n.*822A>G) c.1225A>G (p.Ile409Val) n.835A>G c.913A>G (p.Ile305Val) c.508A>G (p.Ile170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282447T>G | CA349002814 | IFIH1 | c.*822A>C (n.*822A>C) c.1225A>C (p.Ile409Leu) n.835A>C c.913A>C (p.Ile305Leu) c.508A>C (p.Ile170Leu) | |
2 | g.162282447T= | CA1303149324 | IFIH1 | c.*822A= (n.*822A=) c.1225A= (p.Ile409=) n.835A= c.913A= (p.Ile305=) c.508A= (p.Ile170=) | |
2 | g.162282448A>C | CA349002815 | IFIH1 | c.*821T>G (n.*821T>G) c.1224T>G (p.Asp408Glu) n.834T>G c.912T>G (p.Asp304Glu) c.507T>G (p.Asp169Glu) | |
2 | g.162282448A>G | CA429536036 | IFIH1 | c.*821T>C (n.*821T>C) c.1224T>C (p.Asp408=) n.834T>C c.912T>C (p.Asp304=) c.507T>C (p.Asp169=) | gnomAD v4 |
2 | g.162282448A>T | CA349002816 | IFIH1 | c.*821T>A (n.*821T>A) c.1224T>A (p.Asp408Glu) n.834T>A c.912T>A (p.Asp304Glu) c.507T>A (p.Asp169Glu) | |
2 | g.162282449T>A | CA349002817 | IFIH1 | c.*820A>T (n.*820A>T) c.1223A>T (p.Asp408Val) n.833A>T c.911A>T (p.Asp304Val) c.506A>T (p.Asp169Val) | |
2 | g.162282449T>C | CA349002818 | IFIH1 | c.*820A>G (n.*820A>G) c.1223A>G (p.Asp408Gly) n.833A>G c.911A>G (p.Asp304Gly) c.506A>G (p.Asp169Gly) | |
2 | g.162282449T>G | CA349002819 | IFIH1 | c.*820A>C (n.*820A>C) c.1223A>C (p.Asp408Ala) n.833A>C c.911A>C (p.Asp304Ala) c.506A>C (p.Asp169Ala) | gnomAD v4 |
2 | g.162282450C>A | CA349002820 | IFIH1 | c.*819G>T (n.*819G>T) c.1222G>T (p.Asp408Tyr) n.832G>T c.910G>T (p.Asp304Tyr) c.505G>T (p.Asp169Tyr) | |
2 | g.162282450C= | CA1303149325 | IFIH1 | c.*819G= (n.*819G=) c.1222G= (p.Asp408=) n.832G= c.910G= (p.Asp304=) c.505G= (p.Asp169=) | |
2 | g.162282450C>G | CA349002821 | IFIH1 | c.*819G>C (n.*819G>C) c.1222G>C (p.Asp408His) n.832G>C c.910G>C (p.Asp304His) c.505G>C (p.Asp169His) | |
2 | g.162282450C>T | CA1934589 | IFIH1 | c.*819G>A (n.*819G>A) c.1222G>A (p.Asp408Asn) n.832G>A c.910G>A (p.Asp304Asn) c.505G>A (p.Asp169Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282451A>C | CA349002823 | IFIH1 | c.*818T>G (n.*818T>G) c.1221T>G (p.Cys407Trp) n.831T>G c.909T>G (p.Cys303Trp) c.504T>G (p.Cys168Trp) | |
2 | g.162282451A>G | CA429536040 | IFIH1 | c.*818T>C (n.*818T>C) c.1221T>C (p.Cys407=) n.831T>C c.909T>C (p.Cys303=) c.504T>C (p.Cys168=) | |
2 | g.162282451A>T | CA349002822 | IFIH1 | c.*818T>A (n.*818T>A) c.1221T>A (p.Cys407Ter) n.831T>A c.909T>A (p.Cys303Ter) c.504T>A (p.Cys168Ter) | |
2 | g.162282452C>A | CA349002824 | IFIH1 | c.*817G>T (n.*817G>T) c.1220G>T (p.Cys407Phe) n.830G>T c.908G>T (p.Cys303Phe) c.503G>T (p.Cys168Phe) | COSMIC |
2 | g.162282452C= | CA1303149326 | IFIH1 | c.*817G= (n.*817G=) c.1220G= (p.Cys407=) n.830G= c.908G= (p.Cys303=) c.503G= (p.Cys168=) | |
2 | g.162282452C>G | CA349002825 | IFIH1 | c.*817G>C (n.*817G>C) c.1220G>C (p.Cys407Ser) n.830G>C c.908G>C (p.Cys303Ser) c.503G>C (p.Cys168Ser) | |
2 | g.162282452C>T | CA349002826 | IFIH1 | c.*817G>A (n.*817G>A) c.1220G>A (p.Cys407Tyr) n.830G>A c.908G>A (p.Cys303Tyr) c.503G>A (p.Cys168Tyr) | ClinVar dbSNP |
2 | g.162282453A= | CA1303149327 | IFIH1 | c.*816T= (n.*816T=) c.1219T= (p.Cys407=) n.829T= c.907T= (p.Cys303=) c.502T= (p.Cys168=) | |
2 | g.162282453A>C | CA349002827 | IFIH1 | c.*816T>G (n.*816T>G) c.1219T>G (p.Cys407Gly) n.829T>G c.907T>G (p.Cys303Gly) c.502T>G (p.Cys168Gly) | |
2 | g.162282453A>G | CA1934590 | IFIH1 | c.*816T>C (n.*816T>C) c.1219T>C (p.Cys407Arg) n.829T>C c.907T>C (p.Cys303Arg) c.502T>C (p.Cys168Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282453A>T | CA349002828 | IFIH1 | c.*816T>A (n.*816T>A) c.1219T>A (p.Cys407Ser) n.829T>A c.907T>A (p.Cys303Ser) c.502T>A (p.Cys168Ser) | |
2 | g.162282454G>A | CA429536045 | IFIH1 | c.*815C>T (n.*815C>T) c.1218C>T (p.Ser406=) n.828C>T c.906C>T (p.Ser302=) c.501C>T (p.Ser167=) | dbSNP COSMIC |
2 | g.162282454G>C | CA429536046 | IFIH1 | c.*815C>G (n.*815C>G) c.1218C>G (p.Ser406=) n.828C>G c.906C>G (p.Ser302=) c.501C>G (p.Ser167=) | |
2 | g.162282454G= | CA1303149328 | IFIH1 | c.*815C= (n.*815C=) c.1218C= (p.Ser406=) n.828C= c.906C= (p.Ser302=) c.501C= (p.Ser167=) | |
2 | g.162282454G>T | CA429536044 | IFIH1 | c.*815C>A (n.*815C>A) c.1218C>A (p.Ser406=) n.828C>A c.906C>A (p.Ser302=) c.501C>A (p.Ser167=) | |
2 | g.162282455G>A | CA349002829 | IFIH1 | c.*814C>T (n.*814C>T) c.1217C>T (p.Ser406Phe) n.827C>T c.905C>T (p.Ser302Phe) c.500C>T (p.Ser167Phe) | |
2 | g.162282455G>C | CA349002831 | IFIH1 | c.*814C>G (n.*814C>G) c.1217C>G (p.Ser406Cys) n.827C>G c.905C>G (p.Ser302Cys) c.500C>G (p.Ser167Cys) | gnomAD v4 |
2 | g.162282455G>T | CA349002830 | IFIH1 | c.*814C>A (n.*814C>A) c.1217C>A (p.Ser406Tyr) n.827C>A c.905C>A (p.Ser302Tyr) c.500C>A (p.Ser167Tyr) | |
2 | g.162282456A>C | CA349002832 | IFIH1 | c.*813T>G (n.*813T>G) c.1216T>G (p.Ser406Ala) n.826T>G c.904T>G (p.Ser302Ala) c.499T>G (p.Ser167Ala) | |
2 | g.162282456A>G | CA349002833 | IFIH1 | c.*813T>C (n.*813T>C) c.1216T>C (p.Ser406Pro) n.826T>C c.904T>C (p.Ser302Pro) c.499T>C (p.Ser167Pro) | gnomAD v4 |
2 | g.162282456A>T | CA349002834 | IFIH1 | c.*813T>A (n.*813T>A) c.1216T>A (p.Ser406Thr) n.826T>A c.904T>A (p.Ser302Thr) c.499T>A (p.Ser167Thr) | |
2 | g.162282457C>A | CA349002835 | IFIH1 | c.*812G>T (n.*812G>T) c.1215G>T (p.Lys405Asn) n.825G>T c.903G>T (p.Lys301Asn) c.498G>T (p.Lys166Asn) | |
2 | g.162282457C= | CA1303149329 | IFIH1 | c.*812G= (n.*812G=) c.1215G= (p.Lys405=) n.825G= c.903G= (p.Lys301=) c.498G= (p.Lys166=) | |
2 | g.162282457C>G | CA349002836 | IFIH1 | c.*812G>C (n.*812G>C) c.1215G>C (p.Lys405Asn) n.825G>C c.903G>C (p.Lys301Asn) c.498G>C (p.Lys166Asn) | gnomAD v4 |
2 | g.162282457C>T | CA429536050 | IFIH1 | c.*812G>A (n.*812G>A) c.1215G>A (p.Lys405=) n.825G>A c.903G>A (p.Lys301=) c.498G>A (p.Lys166=) | dbSNP gnomAD v4 |
2 | g.162282458T>A | CA349002837 | IFIH1 | c.*811A>T (n.*811A>T) c.1214A>T (p.Lys405Met) n.824A>T c.902A>T (p.Lys301Met) c.497A>T (p.Lys166Met) | |
2 | g.162282458T>C | CA349002838 | IFIH1 | c.*811A>G (n.*811A>G) c.1214A>G (p.Lys405Arg) n.824A>G c.902A>G (p.Lys301Arg) c.497A>G (p.Lys166Arg) | gnomAD v4 |
2 | g.162282458T>G | CA349002839 | IFIH1 | c.*811A>C (n.*811A>C) c.1214A>C (p.Lys405Thr) n.824A>C c.902A>C (p.Lys301Thr) c.497A>C (p.Lys166Thr) | gnomAD v4 |
2 | g.162282459T>A | CA349002840 | IFIH1 | c.*810A>T (n.*810A>T) c.1213A>T (p.Lys405Ter) n.823A>T c.901A>T (p.Lys301Ter) c.496A>T (p.Lys166Ter) | |
2 | g.162282459T>C | CA349002841 | IFIH1 | c.*810A>G (n.*810A>G) c.1213A>G (p.Lys405Glu) n.823A>G c.901A>G (p.Lys301Glu) c.496A>G (p.Lys166Glu) | |
2 | g.162282459T>G | CA349002842 | IFIH1 | c.*810A>C (n.*810A>C) c.1213A>C (p.Lys405Gln) n.823A>C c.901A>C (p.Lys301Gln) c.496A>C (p.Lys166Gln) | |
2 | g.162282460G>A | CA429536052 | IFIH1 | c.*809C>T (n.*809C>T) c.1212C>T (p.Val404=) n.822C>T c.900C>T (p.Val300=) c.495C>T (p.Val165=) | |
2 | g.162282460G>C | CA429536053 | IFIH1 | c.*809C>G (n.*809C>G) c.1212C>G (p.Val404=) n.822C>G c.900C>G (p.Val300=) c.495C>G (p.Val165=) | |
2 | g.162282460G= | CA1303149330 | IFIH1 | c.*809C= (n.*809C=) c.1212C= (p.Val404=) n.822C= c.900C= (p.Val300=) c.495C= (p.Val165=) | |
2 | g.162282460G>T | CA1934591 | IFIH1 | c.*809C>A (n.*809C>A) c.1212C>A (p.Val404=) n.822C>A c.900C>A (p.Val300=) c.495C>A (p.Val165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282461A= | CA1303149331 | IFIH1 | c.*808T= (n.*808T=) c.1211T= (p.Val404=) n.821T= c.899T= (p.Val300=) c.494T= (p.Val165=) | |
2 | g.162282461A>C | CA349002844 | IFIH1 | c.*808T>G (n.*808T>G) c.1211T>G (p.Val404Gly) n.821T>G c.899T>G (p.Val300Gly) c.494T>G (p.Val165Gly) | |
2 | g.162282461A>G | CA59665876 | IFIH1 | c.*808T>C (n.*808T>C) c.1211T>C (p.Val404Ala) n.821T>C c.899T>C (p.Val300Ala) c.494T>C (p.Val165Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.162282461A>T | CA349002843 | IFIH1 | c.*808T>A (n.*808T>A) c.1211T>A (p.Val404Asp) n.821T>A c.899T>A (p.Val300Asp) c.494T>A (p.Val165Asp) | |
2 | g.162282462C>A | CA349002845 | IFIH1 | c.*807G>T (n.*807G>T) c.1210G>T (p.Val404Phe) n.820G>T c.898G>T (p.Val300Phe) c.493G>T (p.Val165Phe) | gnomAD v4 |
2 | g.162282462C= | CA1303149332 | IFIH1 | c.*807G= (n.*807G=) c.1210G= (p.Val404=) n.820G= c.898G= (p.Val300=) c.493G= (p.Val165=) | |
2 | g.162282462C>G | CA349002846 | IFIH1 | c.*807G>C (n.*807G>C) c.1210G>C (p.Val404Leu) n.820G>C c.898G>C (p.Val300Leu) c.493G>C (p.Val165Leu) | |
2 | g.162282462C>T | CA1934592 | IFIH1 | c.*807G>A (n.*807G>A) c.1210G>A (p.Val404Ile) n.820G>A c.898G>A (p.Val300Ile) c.493G>A (p.Val165Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282463A>C | CA429536055 | IFIH1 | c.*806T>G (n.*806T>G) c.1209T>G (p.Val403=) n.819T>G c.897T>G (p.Val299=) c.492T>G (p.Val164=) | |
2 | g.162282463A>G | CA429536056 | IFIH1 | c.*806T>C (n.*806T>C) c.1209T>C (p.Val403=) n.819T>C c.897T>C (p.Val299=) c.492T>C (p.Val164=) | |
2 | g.162282463A>T | CA429536057 | IFIH1 | c.*806T>A (n.*806T>A) c.1209T>A (p.Val403=) n.819T>A c.897T>A (p.Val299=) c.492T>A (p.Val164=) | |
2 | g.162282464A= | CA1303149333 | IFIH1 | c.*805T= (n.*805T=) c.1208T= (p.Val403=) n.818T= c.896T= (p.Val299=) c.491T= (p.Val164=) | |
2 | g.162282464A>C | CA349002847 | IFIH1 | c.*805T>G (n.*805T>G) c.1208T>G (p.Val403Gly) n.818T>G c.896T>G (p.Val299Gly) c.491T>G (p.Val164Gly) | |
2 | g.162282464A>G | CA1934593 | IFIH1 | c.*805T>C (n.*805T>C) c.1208T>C (p.Val403Ala) n.818T>C c.896T>C (p.Val299Ala) c.491T>C (p.Val164Ala) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.162282464A>T | CA349002848 | IFIH1 | c.*805T>A (n.*805T>A) c.1208T>A (p.Val403Asp) n.818T>A c.896T>A (p.Val299Asp) c.491T>A (p.Val164Asp) | |
2 | g.162282465C>A | CA349002849 | IFIH1 | c.*804G>T (n.*804G>T) c.1207G>T (p.Val403Phe) n.817G>T c.895G>T (p.Val299Phe) c.490G>T (p.Val164Phe) | |
2 | g.162282465C>G | CA349002850 | IFIH1 | c.*804G>C (n.*804G>C) c.1207G>C (p.Val403Leu) n.817G>C c.895G>C (p.Val299Leu) c.490G>C (p.Val164Leu) | |
2 | g.162282465C>T | CA349002851 | IFIH1 | c.*804G>A (n.*804G>A) c.1207G>A (p.Val403Ile) n.817G>A c.895G>A (p.Val299Ile) c.490G>A (p.Val164Ile) | ClinVar gnomAD v4 |
2 | g.162282467_162282469del | CA2661689403 | IFIH1 | c.*802_*804del (n.*802_*804del) c.1205_1207del (p.Glu402del) n.815_817del c.893_895del (p.Glu298del) c.488_490del (p.Glu163del) | gnomAD v4 |
2 | g.162282466T>A | CA349002852 | IFIH1 | c.*803A>T (n.*803A>T) c.1206A>T (p.Glu402Asp) n.816A>T c.894A>T (p.Glu298Asp) c.489A>T (p.Glu163Asp) | |
2 | g.162282466T>C | CA429536060 | IFIH1 | c.*803A>G (n.*803A>G) c.1206A>G (p.Glu402=) n.816A>G c.894A>G (p.Glu298=) c.489A>G (p.Glu163=) | |
2 | g.162282466T>G | CA349002853 | IFIH1 | c.*803A>C (n.*803A>C) c.1206A>C (p.Glu402Asp) n.816A>C c.894A>C (p.Glu298Asp) c.489A>C (p.Glu163Asp) | |
2 | g.162282467T>A | CA349002856 | IFIH1 | c.*802A>T (n.*802A>T) c.1205A>T (p.Glu402Val) n.815A>T c.893A>T (p.Glu298Val) c.488A>T (p.Glu163Val) | |
2 | g.162282467T>C | CA349002855 | IFIH1 | c.*802A>G (n.*802A>G) c.1205A>G (p.Glu402Gly) n.815A>G c.893A>G (p.Glu298Gly) c.488A>G (p.Glu163Gly) | |
2 | g.162282467T>G | CA349002854 | IFIH1 | c.*802A>C (n.*802A>C) c.1205A>C (p.Glu402Ala) n.815A>C c.893A>C (p.Glu298Ala) c.488A>C (p.Glu163Ala) | |
2 | g.162282468C>A | CA349002857 | IFIH1 | c.*801G>T (n.*801G>T) c.1204G>T (p.Glu402Ter) n.814G>T c.892G>T (p.Glu298Ter) c.487G>T (p.Glu163Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282468C>G | CA349002858 | IFIH1 | c.*801G>C (n.*801G>C) c.1204G>C (p.Glu402Gln) n.814G>C c.892G>C (p.Glu298Gln) c.487G>C (p.Glu163Gln) | gnomAD v4 |
2 | g.162282468C>T | CA349002859 | IFIH1 | c.*801G>A (n.*801G>A) c.1204G>A (p.Glu402Lys) n.814G>A c.892G>A (p.Glu298Lys) c.487G>A (p.Glu163Lys) | |
2 | g.162282469T>A | CA429536064 | IFIH1 | c.*800A>T (n.*800A>T) c.1203A>T (p.Pro401=) n.813A>T c.891A>T (p.Pro297=) c.486A>T (p.Pro162=) | |
2 | g.162282469T>C | CA59665899 | IFIH1 | c.*800A>G (n.*800A>G) c.1203A>G (p.Pro401=) n.813A>G c.891A>G (p.Pro297=) c.486A>G (p.Pro162=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.162282469T>G | CA429536065 | IFIH1 | c.*800A>C (n.*800A>C) c.1203A>C (p.Pro401=) n.813A>C c.891A>C (p.Pro297=) c.486A>C (p.Pro162=) | |
2 | g.162282469T= | CA1303149334 | IFIH1 | c.*800A= (n.*800A=) c.1203A= (p.Pro401=) n.813A= c.891A= (p.Pro297=) c.486A= (p.Pro162=) | |
2 | g.162282470G>A | CA349002860 | IFIH1 | c.*799C>T (n.*799C>T) c.1202C>T (p.Pro401Leu) n.812C>T c.890C>T (p.Pro297Leu) c.485C>T (p.Pro162Leu) | dbSNP |
2 | g.162282470G>C | CA349002861 | IFIH1 | c.*799C>G (n.*799C>G) c.1202C>G (p.Pro401Arg) n.812C>G c.890C>G (p.Pro297Arg) c.485C>G (p.Pro162Arg) | |
2 | g.162282470G>T | CA349002862 | IFIH1 | c.*799C>A (n.*799C>A) c.1202C>A (p.Pro401Gln) n.812C>A c.890C>A (p.Pro297Gln) c.485C>A (p.Pro162Gln) | |
2 | g.162282470_162282471insAA | CA2752938483 | IFIH1 | c.*798_*799insTT (n.*798_*799insTT) c.1201_1202insTT (p.Pro401LeufsTer23) n.811_812insTT c.889_890insTT (p.Pro297LeufsTer23) c.484_485insTT (p.Pro162LeufsTer23) | |
2 | g.162282471G>A | CA349002863 | IFIH1 | c.*798C>T (n.*798C>T) c.1201C>T (p.Pro401Ser) n.811C>T c.889C>T (p.Pro297Ser) c.484C>T (p.Pro162Ser) | gnomAD v4 |
2 | g.162282471G>C | CA349002864 | IFIH1 | c.*798C>G (n.*798C>G) c.1201C>G (p.Pro401Ala) n.811C>G c.889C>G (p.Pro297Ala) c.484C>G (p.Pro162Ala) | |
2 | g.162282471G>T | CA349002865 | IFIH1 | c.*798C>A (n.*798C>A) c.1201C>A (p.Pro401Thr) n.811C>A c.889C>A (p.Pro297Thr) c.484C>A (p.Pro162Thr) | |
2 | g.162282472A= | CA1303149335 | IFIH1 | c.*797T= (n.*797T=) c.1200T= (p.Phe400=) n.810T= c.888T= (p.Phe296=) c.483T= (p.Phe161=) | |
2 | g.162282472A>C | CA349002866 | IFIH1 | c.*797T>G (n.*797T>G) c.1200T>G (p.Phe400Leu) n.810T>G c.888T>G (p.Phe296Leu) c.483T>G (p.Phe161Leu) | |
2 | g.162282472A>G | CA429536067 | IFIH1 | c.*797T>C (n.*797T>C) c.1200T>C (p.Phe400=) n.810T>C c.888T>C (p.Phe296=) c.483T>C (p.Phe161=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282472A>T | CA349002867 | IFIH1 | c.*797T>A (n.*797T>A) c.1200T>A (p.Phe400Leu) n.810T>A c.888T>A (p.Phe296Leu) c.483T>A (p.Phe161Leu) | ClinVar |
2 | g.162282473A>C | CA349002868 | IFIH1 | c.*796T>G (n.*796T>G) c.1199T>G (p.Phe400Cys) n.809T>G c.887T>G (p.Phe296Cys) c.482T>G (p.Phe161Cys) | |
2 | g.162282473A>G | CA349002869 | IFIH1 | c.*796T>C (n.*796T>C) c.1199T>C (p.Phe400Ser) n.809T>C c.887T>C (p.Phe296Ser) c.482T>C (p.Phe161Ser) | |
2 | g.162282473A>T | CA349002870 | IFIH1 | c.*796T>A (n.*796T>A) c.1199T>A (p.Phe400Tyr) n.809T>A c.887T>A (p.Phe296Tyr) c.482T>A (p.Phe161Tyr) | |
2 | g.162282474A>C | CA349002872 | IFIH1 | c.*795T>G (n.*795T>G) c.1198T>G (p.Phe400Val) n.808T>G c.886T>G (p.Phe296Val) c.481T>G (p.Phe161Val) | |
2 | g.162282474A>G | CA349002873 | IFIH1 | c.*795T>C (n.*795T>C) c.1198T>C (p.Phe400Leu) n.808T>C c.886T>C (p.Phe296Leu) c.481T>C (p.Phe161Leu) | |
2 | g.162282474A>T | CA349002871 | IFIH1 | c.*795T>A (n.*795T>A) c.1198T>A (p.Phe400Ile) n.808T>A c.886T>A (p.Phe296Ile) c.481T>A (p.Phe161Ile) | |
2 | g.162282475T>A | CA429536072 | IFIH1 | c.*794A>T (n.*794A>T) c.1197A>T (p.Ser399=) n.807A>T c.885A>T (p.Ser295=) c.480A>T (p.Ser160=) | |
2 | g.162282475T>C | CA429536070 | IFIH1 | c.*794A>G (n.*794A>G) c.1197A>G (p.Ser399=) n.807A>G c.885A>G (p.Ser295=) c.480A>G (p.Ser160=) | dbSNP |
2 | g.162282475T>G | CA429536071 | IFIH1 | c.*794A>C (n.*794A>C) c.1197A>C (p.Ser399=) n.807A>C c.885A>C (p.Ser295=) c.480A>C (p.Ser160=) | |
2 | g.162282475T= | CA1303149336 | IFIH1 | c.*794A= (n.*794A=) c.1197A= (p.Ser399=) n.807A= c.885A= (p.Ser295=) c.480A= (p.Ser160=) | |
2 | g.162282476G>A | CA349002874 | IFIH1 | c.*793C>T (n.*793C>T) c.1196C>T (p.Ser399Leu) n.806C>T c.884C>T (p.Ser295Leu) c.479C>T (p.Ser160Leu) | |
2 | g.162282476G>C | CA349002875 | IFIH1 | c.*793C>G (n.*793C>G) c.1196C>G (p.Ser399Ter) n.806C>G c.884C>G (p.Ser295Ter) c.479C>G (p.Ser160Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.162282476G= | CA1303149337 | IFIH1 | c.*793C= (n.*793C=) c.1196C= (p.Ser399=) n.806C= c.884C= (p.Ser295=) c.479C= (p.Ser160=) | |
2 | g.162282476G>T | CA1934594 | IFIH1 | c.*793C>A (n.*793C>A) c.1196C>A (p.Ser399Ter) n.806C>A c.884C>A (p.Ser295Ter) c.479C>A (p.Ser160Ter) | dbSNP ExAC gnomAD v2 |
2 | g.162282477A= | CA1303149338 | IFIH1 | c.*792T= (n.*792T=) c.1195T= (p.Ser399=) n.805T= c.883T= (p.Ser295=) c.478T= (p.Ser160=) | |
2 | g.162282477A>C | CA349002876 | IFIH1 | c.*792T>G (n.*792T>G) c.1195T>G (p.Ser399Ala) n.805T>G c.883T>G (p.Ser295Ala) c.478T>G (p.Ser160Ala) | |
2 | g.162282477A>G | CA349002877 | IFIH1 | c.*792T>C (n.*792T>C) c.1195T>C (p.Ser399Pro) n.805T>C c.883T>C (p.Ser295Pro) c.478T>C (p.Ser160Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282477A>T | CA349002878 | IFIH1 | c.*792T>A (n.*792T>A) c.1195T>A (p.Ser399Thr) n.805T>A c.883T>A (p.Ser295Thr) c.478T>A (p.Ser160Thr) | |
2 | g.162282478T>A | CA429536078 | IFIH1 | c.*791A>T (n.*791A>T) c.1194A>T (p.Ile398=) n.804A>T c.882A>T (p.Ile294=) c.477A>T (p.Ile159=) | |
2 | g.162282478T>C | CA349002879 | IFIH1 | c.*791A>G (n.*791A>G) c.1194A>G (p.Ile398Met) n.804A>G c.882A>G (p.Ile294Met) c.477A>G (p.Ile159Met) | ClinVar |
2 | g.162282478T>G | CA429536079 | IFIH1 | c.*791A>C (n.*791A>C) c.1194A>C (p.Ile398=) n.804A>C c.882A>C (p.Ile294=) c.477A>C (p.Ile159=) | |
2 | g.162282479A>C | CA349002880 | IFIH1 | c.*790T>G (n.*790T>G) c.1193T>G (p.Ile398Arg) n.803T>G c.881T>G (p.Ile294Arg) c.476T>G (p.Ile159Arg) | |
2 | g.162282479A>G | CA349002881 | IFIH1 | c.*790T>C (n.*790T>C) c.1193T>C (p.Ile398Thr) n.803T>C c.881T>C (p.Ile294Thr) c.476T>C (p.Ile159Thr) | |
2 | g.162282479A>T | CA349002882 | IFIH1 | c.*790T>A (n.*790T>A) c.1193T>A (p.Ile398Lys) n.803T>A c.881T>A (p.Ile294Lys) c.476T>A (p.Ile159Lys) | |
2 | g.162282480T>A | CA349002883 | IFIH1 | c.*789A>T (n.*789A>T) c.1192A>T (p.Ile398Leu) n.802A>T c.880A>T (p.Ile294Leu) c.475A>T (p.Ile159Leu) | dbSNP |
2 | g.162282480T>C | CA349002884 | IFIH1 | c.*789A>G (n.*789A>G) c.1192A>G (p.Ile398Val) n.802A>G c.880A>G (p.Ile294Val) c.475A>G (p.Ile159Val) | gnomAD v4 |
2 | g.162282480T>G | CA349002885 | IFIH1 | c.*789A>C (n.*789A>C) c.1192A>C (p.Ile398Leu) n.802A>C c.880A>C (p.Ile294Leu) c.475A>C (p.Ile159Leu) | |
2 | g.162282480T= | CA1303149339 | IFIH1 | c.*789A= (n.*789A=) c.1192A= (p.Ile398=) n.802A= c.880A= (p.Ile294=) c.475A= (p.Ile159=) | |
2 | g.162282480_162282481insCGTG | CA2752938484 | IFIH1 | c.*788_*789insCACG (n.*788_*789insCACG) c.1191_1192insCACG (p.Ile398HisfsTer12) n.801_802insCACG c.879_880insCACG (p.Ile294HisfsTer12) c.474_475insCACG (p.Ile159HisfsTer12) | |
2 | g.162282481T>A | CA349002887 | IFIH1 | c.*788A>T (n.*788A>T) c.1191A>T (p.Lys397Asn) n.801A>T c.879A>T (p.Lys293Asn) c.474A>T (p.Lys158Asn) | |
2 | g.162282481T>C | CA429536086 | IFIH1 | c.*788A>G (n.*788A>G) c.1191A>G (p.Lys397=) n.801A>G c.879A>G (p.Lys293=) c.474A>G (p.Lys158=) | ClinVar dbSNP gnomAD v4 |
2 | g.162282481T>G | CA349002886 | IFIH1 | c.*788A>C (n.*788A>C) c.1191A>C (p.Lys397Asn) n.801A>C c.879A>C (p.Lys293Asn) c.474A>C (p.Lys158Asn) | |
2 | g.162282481T= | CA1303149340 | IFIH1 | c.*788A= (n.*788A=) c.1191A= (p.Lys397=) n.801A= c.879A= (p.Lys293=) c.474A= (p.Lys158=) | |
2 | g.162282482T>A | CA349002888 | IFIH1 | c.*787A>T (n.*787A>T) c.1190A>T (p.Lys397Ile) n.800A>T c.878A>T (p.Lys293Ile) c.473A>T (p.Lys158Ile) | |
2 | g.162282482T>C | CA349002889 | IFIH1 | c.*787A>G (n.*787A>G) c.1190A>G (p.Lys397Arg) n.800A>G c.878A>G (p.Lys293Arg) c.473A>G (p.Lys158Arg) | |
2 | g.162282482T>G | CA349002890 | IFIH1 | c.*787A>C (n.*787A>C) c.1190A>C (p.Lys397Thr) n.800A>C c.878A>C (p.Lys293Thr) c.473A>C (p.Lys158Thr) | |
2 | g.162282483T>A | CA349002891 | IFIH1 | c.*786A>T (n.*786A>T) c.1189A>T (p.Lys397Ter) n.799A>T c.877A>T (p.Lys293Ter) c.472A>T (p.Lys158Ter) | |
2 | g.162282483T>C | CA349002892 | IFIH1 | c.*786A>G (n.*786A>G) c.1189A>G (p.Lys397Glu) n.799A>G c.877A>G (p.Lys293Glu) c.472A>G (p.Lys158Glu) | |
2 | g.162282483T>G | CA349002893 | IFIH1 | c.*786A>C (n.*786A>C) c.1189A>C (p.Lys397Gln) n.799A>C c.877A>C (p.Lys293Gln) c.472A>C (p.Lys158Gln) | |
2 | g.162282483_162282484del | CA2752938763 | IFIH1 | c.*785_*786del (n.*785_*786del) c.1188_1189del (p.Lys397AsnfsTer11) n.798_799del c.876_877del (p.Lys293AsnfsTer11) c.471_472del (p.Lys158AsnfsTer11) | |
2 | g.162282484C>A | CA429536093 | IFIH1 | c.*785G>T (n.*785G>T) c.1188G>T (p.Leu396=) n.798G>T c.876G>T (p.Leu292=) c.471G>T (p.Leu157=) | |
2 | g.162282484C>G | CA429536095 | IFIH1 | c.*785G>C (n.*785G>C) c.1188G>C (p.Leu396=) n.798G>C c.876G>C (p.Leu292=) c.471G>C (p.Leu157=) | gnomAD v4 |
2 | g.162282484C>T | CA429536096 | IFIH1 | c.*785G>A (n.*785G>A) c.1188G>A (p.Leu396=) n.798G>A c.876G>A (p.Leu292=) c.471G>A (p.Leu157=) | |
2 | g.162282485A>C | CA349002894 | IFIH1 | c.*784T>G (n.*784T>G) c.1187T>G (p.Leu396Arg) n.797T>G c.875T>G (p.Leu292Arg) c.470T>G (p.Leu157Arg) | |
2 | g.162282485A>G | CA349002895 | IFIH1 | c.*784T>C (n.*784T>C) c.1187T>C (p.Leu396Pro) n.797T>C c.875T>C (p.Leu292Pro) c.470T>C (p.Leu157Pro) | |
2 | g.162282485A>T | CA349002896 | IFIH1 | c.*784T>A (n.*784T>A) c.1187T>A (p.Leu396Gln) n.797T>A c.875T>A (p.Leu292Gln) c.470T>A (p.Leu157Gln) | |
2 | g.162282486del | CA2752938764 | IFIH1 | c.*783del (n.*783del) c.1186del (p.Leu396Ter) n.796del c.874del (p.Leu292Ter) c.469del (p.Leu157Ter) | |
2 | g.162282486G>A | CA429536102 | IFIH1 | c.*783C>T (n.*783C>T) c.1186C>T (p.Leu396=) n.796C>T c.874C>T (p.Leu292=) c.469C>T (p.Leu157=) | |
2 | g.162282486G>C | CA349002897 | IFIH1 | c.*783C>G (n.*783C>G) c.1186C>G (p.Leu396Val) n.796C>G c.874C>G (p.Leu292Val) c.469C>G (p.Leu157Val) | |
2 | g.162282486G>T | CA349002898 | IFIH1 | c.*783C>A (n.*783C>A) c.1186C>A (p.Leu396Met) n.796C>A c.874C>A (p.Leu292Met) c.469C>A (p.Leu157Met) | |
2 | g.162282487T>A | CA349002899 | IFIH1 | c.*782A>T (n.*782A>T) c.1185A>T (p.Gln395His) n.795A>T c.873A>T (p.Gln291His) c.468A>T (p.Gln156His) | |
2 | g.162282487T>C | CA429536103 | IFIH1 | c.*782A>G (n.*782A>G) c.1185A>G (p.Gln395=) n.795A>G c.873A>G (p.Gln291=) c.468A>G (p.Gln156=) | dbSNP gnomAD v4 |
2 | g.162282487T>G | CA349002900 | IFIH1 | c.*782A>C (n.*782A>C) c.1185A>C (p.Gln395His) n.795A>C c.873A>C (p.Gln291His) c.468A>C (p.Gln156His) | |
2 | g.162282488T>A | CA349002902 | IFIH1 | c.*781A>T (n.*781A>T) c.1184A>T (p.Gln395Leu) n.794A>T c.872A>T (p.Gln291Leu) c.467A>T (p.Gln156Leu) | |
2 | g.162282488T>C | CA349002903 | IFIH1 | c.*781A>G (n.*781A>G) c.1184A>G (p.Gln395Arg) n.794A>G c.872A>G (p.Gln291Arg) c.467A>G (p.Gln156Arg) | |
2 | g.162282488T>G | CA349002901 | IFIH1 | c.*781A>C (n.*781A>C) c.1184A>C (p.Gln395Pro) n.794A>C c.872A>C (p.Gln291Pro) c.467A>C (p.Gln156Pro) | |
2 | g.162282489G>A | CA349002905 | IFIH1 | c.*780C>T (n.*780C>T) c.1183C>T (p.Gln395Ter) n.793C>T c.871C>T (p.Gln291Ter) c.466C>T (p.Gln156Ter) | dbSNP |
2 | g.162282489G>C | CA349002904 | IFIH1 | c.*780C>G (n.*780C>G) c.1183C>G (p.Gln395Glu) n.793C>G c.871C>G (p.Gln291Glu) c.466C>G (p.Gln156Glu) | |
2 | g.162282489G= | CA1303149341 | IFIH1 | c.*780C= (n.*780C=) c.1183C= (p.Gln395=) n.793C= c.871C= (p.Gln291=) c.466C= (p.Gln156=) | |
2 | g.162282489G>T | CA349002906 | IFIH1 | c.*780C>A (n.*780C>A) c.1183C>A (p.Gln395Lys) n.793C>A c.871C>A (p.Gln291Lys) c.466C>A (p.Gln156Lys) | |
2 | g.162282490G>A | CA429536107 | IFIH1 | c.*779C>T (n.*779C>T) c.1182C>T (p.Thr394=) n.792C>T c.870C>T (p.Thr290=) c.465C>T (p.Thr155=) | |
2 | g.162282490G>C | CA429536109 | IFIH1 | c.*779C>G (n.*779C>G) c.1182C>G (p.Thr394=) n.792C>G c.870C>G (p.Thr290=) c.465C>G (p.Thr155=) | |
2 | g.162282490G>T | CA429536110 | IFIH1 | c.*779C>A (n.*779C>A) c.1182C>A (p.Thr394=) n.792C>A c.870C>A (p.Thr290=) c.465C>A (p.Thr155=) | gnomAD v3 gnomAD v4 |
2 | g.162282491G>A | CA349002907 | IFIH1 | c.*778C>T (n.*778C>T) c.1181C>T (p.Thr394Ile) n.791C>T c.869C>T (p.Thr290Ile) c.464C>T (p.Thr155Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282491G>C | CA349002908 | IFIH1 | c.*778C>G (n.*778C>G) c.1181C>G (p.Thr394Ser) n.791C>G c.869C>G (p.Thr290Ser) c.464C>G (p.Thr155Ser) | |
2 | g.162282491G= | CA1303149342 | IFIH1 | c.*778C= (n.*778C=) c.1181C= (p.Thr394=) n.791C= c.869C= (p.Thr290=) c.464C= (p.Thr155=) | |
2 | g.162282491G>T | CA349002909 | IFIH1 | c.*778C>A (n.*778C>A) c.1181C>A (p.Thr394Asn) n.791C>A c.869C>A (p.Thr290Asn) c.464C>A (p.Thr155Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.162282491_162282492del | CA2752938765 | IFIH1 | c.*777_*778del (n.*777_*778del) c.1180_1181del (p.Thr394ProfsTer14) n.790_791del c.868_869del (p.Thr290ProfsTer14) c.463_464del (p.Thr155ProfsTer14) | |
2 | g.162282492T>A | CA349002910 | IFIH1 | c.*777A>T (n.*777A>T) c.1180A>T (p.Thr394Ser) n.790A>T c.868A>T (p.Thr290Ser) c.463A>T (p.Thr155Ser) | |
2 | g.162282492T>C | CA349002911 | IFIH1 | c.*777A>G (n.*777A>G) c.1180A>G (p.Thr394Ala) n.790A>G c.868A>G (p.Thr290Ala) c.463A>G (p.Thr155Ala) | |
2 | g.162282492T>G | CA349002912 | IFIH1 | c.*777A>C (n.*777A>C) c.1180A>C (p.Thr394Pro) n.790A>C c.868A>C (p.Thr290Pro) c.463A>C (p.Thr155Pro) | |
2 | g.162282493A>C | CA349002913 | IFIH1 | c.*776T>G (n.*776T>G) c.1179T>G (p.Asp393Glu) n.789T>G c.867T>G (p.Asp289Glu) c.462T>G (p.Asp154Glu) | |
2 | g.162282493A>G | CA429536112 | IFIH1 | c.*776T>C (n.*776T>C) c.1179T>C (p.Asp393=) n.789T>C c.867T>C (p.Asp289=) c.462T>C (p.Asp154=) | gnomAD v4 |
2 | g.162282493A>T | CA349002914 | IFIH1 | c.*776T>A (n.*776T>A) c.1179T>A (p.Asp393Glu) n.789T>A c.867T>A (p.Asp289Glu) c.462T>A (p.Asp154Glu) | |
2 | g.162282494T>A | CA163194 | IFIH1 | c.*775A>T (n.*775A>T) c.1178A>T (p.Asp393Val) n.788A>T c.866A>T (p.Asp289Val) c.461A>T (p.Asp154Val) | ClinVar dbSNP |
2 | g.162282494T>C | CA1934595 | IFIH1 | c.*775A>G (n.*775A>G) c.1178A>G (p.Asp393Gly) n.788A>G c.866A>G (p.Asp289Gly) c.461A>G (p.Asp154Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282494T>G | CA349002915 | IFIH1 | c.*775A>C (n.*775A>C) c.1178A>C (p.Asp393Ala) n.788A>C c.866A>C (p.Asp289Ala) c.461A>C (p.Asp154Ala) | ClinVar dbSNP |
2 | g.162282494T= | CA1303149343 | IFIH1 | c.*775A= (n.*775A=) c.1178A= (p.Asp393=) n.788A= c.866A= (p.Asp289=) c.461A= (p.Asp154=) | |
2 | g.162282495_162282501del | CA2752938766 | IFIH1 | c.*769_*775del (n.*769_*775del) c.1172_1178del (p.Ser391IlefsTer4) n.782_788del c.860_866del (p.Ser287IlefsTer4) c.455_461del (p.Ser152IlefsTer4) | |
2 | g.162282495C>A | CA349002916 | IFIH1 | c.*774G>T (n.*774G>T) c.1177G>T (p.Asp393Tyr) n.787G>T c.865G>T (p.Asp289Tyr) c.460G>T (p.Asp154Tyr) | |
2 | g.162282495C>G | CA349002917 | IFIH1 | c.*774G>C (n.*774G>C) c.1177G>C (p.Asp393His) n.787G>C c.865G>C (p.Asp289His) c.460G>C (p.Asp154His) | |
2 | g.162282495C>T | CA349002918 | IFIH1 | c.*774G>A (n.*774G>A) c.1177G>A (p.Asp393Asn) n.787G>A c.865G>A (p.Asp289Asn) c.460G>A (p.Asp154Asn) | |
2 | g.162282496A>C | CA429536116 | IFIH1 | c.*773T>G (n.*773T>G) c.1176T>G (p.Gly392=) n.786T>G c.864T>G (p.Gly288=) c.459T>G (p.Gly153=) | |
2 | g.162282496A>G | CA429536115 | IFIH1 | c.*773T>C (n.*773T>C) c.1176T>C (p.Gly392=) n.786T>C c.864T>C (p.Gly288=) c.459T>C (p.Gly153=) | |
2 | g.162282496A>T | CA429536114 | IFIH1 | c.*773T>A (n.*773T>A) c.1176T>A (p.Gly392=) n.786T>A c.864T>A (p.Gly288=) c.459T>A (p.Gly153=) |