UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.613076_613095del | CA2790133950 | IRF7 | c.1175_1194del (p.Gln392LeufsTer?) c.*541_*560del (n.*541_*560del) c.1262_1281del (p.Gln421LeufsTer?) c.1212_1231del (n.1212_1231del) c.1301_1320del (p.Gln434LeufsTer?) c.1214_1233del (p.Gln405LeufsTer?) c.944_963del (p.Gln315LeufsTer?) n.377_396del n.499_518del c.*388_*407del (n.*388_*407del) c.*626_*645del (n.*626_*645del) c.1298_1317del (p.Gln433LeufsTer?) c.1259_1278del (p.Gln420LeufsTer?) c.383_402del (p.Gln128LeufsTer?) | |
| 11 | g.613094G>A | CA199640 | IRF7 | c.1174C>T (p.Gln392Ter) c.*540C>T (n.*540C>T) c.1261C>T (p.Gln421Ter) c.1211C>T (n.1211C>T) c.1300C>T (p.Gln434Ter) c.1213C>T (p.Gln405Ter) c.943C>T (p.Gln315Ter) n.376C>T n.498C>T c.*387C>T (n.*387C>T) c.*625C>T (n.*625C>T) c.1297C>T (p.Gln433Ter) c.1258C>T (p.Gln420Ter) c.382C>T (p.Gln128Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.613094G>C | CA378977193 | IRF7 | c.1174C>G (p.Gln392Glu) c.*540C>G (n.*540C>G) c.1261C>G (p.Gln421Glu) c.1211C>G (n.1211C>G) c.1300C>G (p.Gln434Glu) c.1213C>G (p.Gln405Glu) c.943C>G (p.Gln315Glu) n.376C>G n.498C>G c.*387C>G (n.*387C>G) c.*625C>G (n.*625C>G) c.1297C>G (p.Gln433Glu) c.1258C>G (p.Gln420Glu) c.382C>G (p.Gln128Glu) | |
| 11 | g.613094G= | CA1947180774 | IRF7 | c.1174C= (p.Gln392=) c.*540C= (n.*540C=) c.1261C= (p.Gln421=) c.1211C= (n.1211C=) c.1300C= (p.Gln434=) c.1213C= (p.Gln405=) c.943C= (p.Gln315=) n.376C= n.498C= c.*387C= (n.*387C=) c.*625C= (n.*625C=) c.1297C= (p.Gln433=) c.1258C= (p.Gln420=) c.382C= (p.Gln128=) | |
| 11 | g.613094G>T | CA378977196 | IRF7 | c.1174C>A (p.Gln392Lys) c.*540C>A (n.*540C>A) c.1261C>A (p.Gln421Lys) c.1211C>A (n.1211C>A) c.1300C>A (p.Gln434Lys) c.1213C>A (p.Gln405Lys) c.943C>A (p.Gln315Lys) n.376C>A n.498C>A c.*387C>A (n.*387C>A) c.*625C>A (n.*625C>A) c.1297C>A (p.Gln433Lys) c.1258C>A (p.Gln420Lys) c.382C>A (p.Gln128Lys) | |
| 11 | g.613095C>A | CA472434233 | IRF7 | c.1173G>T (p.Arg391=) c.*539G>T (n.*539G>T) c.1260G>T (p.Arg420=) c.1210G>T (n.1210G>T) c.1299G>T (p.Arg433=) c.1212G>T (p.Arg404=) c.942G>T (p.Arg314=) n.375G>T n.497G>T c.*386G>T (n.*386G>T) c.*624G>T (n.*624G>T) c.1296G>T (p.Arg432=) c.1257G>T (p.Arg419=) c.381G>T (p.Arg127=) | |
| 11 | g.613095C= | CA1947180785 | IRF7 | c.1173G= (p.Arg391=) c.*539G= (n.*539G=) c.1260G= (p.Arg420=) c.1210G= (n.1210G=) c.1299G= (p.Arg433=) c.1212G= (p.Arg404=) c.942G= (p.Arg314=) n.375G= n.497G= c.*386G= (n.*386G=) c.*624G= (n.*624G=) c.1296G= (p.Arg432=) c.1257G= (p.Arg419=) c.381G= (p.Arg127=) | |
| 11 | g.613095C>G | CA472434234 | IRF7 | c.1173G>C (p.Arg391=) c.*539G>C (n.*539G>C) c.1260G>C (p.Arg420=) c.1210G>C (n.1210G>C) c.1299G>C (p.Arg433=) c.1212G>C (p.Arg404=) c.942G>C (p.Arg314=) n.375G>C n.497G>C c.*386G>C (n.*386G>C) c.*624G>C (n.*624G>C) c.1296G>C (p.Arg432=) c.1257G>C (p.Arg419=) c.381G>C (p.Arg127=) | |
| 11 | g.613095C>T | CA472434236 | IRF7 | c.1173G>A (p.Arg391=) c.*539G>A (n.*539G>A) c.1260G>A (p.Arg420=) c.1210G>A (n.1210G>A) c.1299G>A (p.Arg433=) c.1212G>A (p.Arg404=) c.942G>A (p.Arg314=) n.375G>A n.497G>A c.*386G>A (n.*386G>A) c.*624G>A (n.*624G>A) c.1296G>A (p.Arg432=) c.1257G>A (p.Arg419=) c.381G>A (p.Arg127=) | dbSNP gnomAD v4 |
| 11 | g.613096C>A | CA378977205 | IRF7 | c.1172G>T (p.Arg391Leu) c.*538G>T (n.*538G>T) c.1259G>T (p.Arg420Leu) c.1209G>T (n.1209G>T) c.1298G>T (p.Arg433Leu) c.1211G>T (p.Arg404Leu) c.941G>T (p.Arg314Leu) n.374G>T n.496G>T c.*385G>T (n.*385G>T) c.*623G>T (n.*623G>T) c.1295G>T (p.Arg432Leu) c.1256G>T (p.Arg419Leu) c.380G>T (p.Arg127Leu) | |
| 11 | g.613096C= | CA1947180794 | IRF7 | c.1172G= (p.Arg391=) c.*538G= (n.*538G=) c.1259G= (p.Arg420=) c.1209G= (n.1209G=) c.1298G= (p.Arg433=) c.1211G= (p.Arg404=) c.941G= (p.Arg314=) n.374G= n.496G= c.*385G= (n.*385G=) c.*623G= (n.*623G=) c.1295G= (p.Arg432=) c.1256G= (p.Arg419=) c.380G= (p.Arg127=) | |
| 11 | g.613096C>G | CA378977202 | IRF7 | c.1172G>C (p.Arg391Pro) c.*538G>C (n.*538G>C) c.1259G>C (p.Arg420Pro) c.1209G>C (n.1209G>C) c.1298G>C (p.Arg433Pro) c.1211G>C (p.Arg404Pro) c.941G>C (p.Arg314Pro) n.374G>C n.496G>C c.*385G>C (n.*385G>C) c.*623G>C (n.*623G>C) c.1295G>C (p.Arg432Pro) c.1256G>C (p.Arg419Pro) c.380G>C (p.Arg127Pro) | dbSNP gnomAD v2 |
| 11 | g.613096C>T | CA5783517 | IRF7 | c.1172G>A (p.Arg391Gln) c.*538G>A (n.*538G>A) c.1259G>A (p.Arg420Gln) c.1209G>A (n.1209G>A) c.1298G>A (p.Arg433Gln) c.1211G>A (p.Arg404Gln) c.941G>A (p.Arg314Gln) n.374G>A n.496G>A c.*385G>A (n.*385G>A) c.*623G>A (n.*623G>A) c.1295G>A (p.Arg432Gln) c.1256G>A (p.Arg419Gln) c.380G>A (p.Arg127Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.613097G>A | CA5783518 | IRF7 | c.1171C>T (p.Arg391Trp) c.*537C>T (n.*537C>T) c.1258C>T (p.Arg420Trp) c.1208C>T (n.1208C>T) c.1297C>T (p.Arg433Trp) c.1210C>T (p.Arg404Trp) c.940C>T (p.Arg314Trp) n.373C>T n.495C>T c.*384C>T (n.*384C>T) c.*622C>T (n.*622C>T) c.1294C>T (p.Arg432Trp) c.1255C>T (p.Arg419Trp) c.379C>T (p.Arg127Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.613097G>C | CA378977209 | IRF7 | c.1171C>G (p.Arg391Gly) c.*537C>G (n.*537C>G) c.1258C>G (p.Arg420Gly) c.1208C>G (n.1208C>G) c.1297C>G (p.Arg433Gly) c.1210C>G (p.Arg404Gly) c.940C>G (p.Arg314Gly) n.373C>G n.495C>G c.*384C>G (n.*384C>G) c.*622C>G (n.*622C>G) c.1294C>G (p.Arg432Gly) c.1255C>G (p.Arg419Gly) c.379C>G (p.Arg127Gly) | |
| 11 | g.613097G= | CA1947180809 | IRF7 | c.1171C= (p.Arg391=) c.*537C= (n.*537C=) c.1258C= (p.Arg420=) c.1208C= (n.1208C=) c.1297C= (p.Arg433=) c.1210C= (p.Arg404=) c.940C= (p.Arg314=) n.373C= n.495C= c.*384C= (n.*384C=) c.*622C= (n.*622C=) c.1294C= (p.Arg432=) c.1255C= (p.Arg419=) c.379C= (p.Arg127=) | |
| 11 | g.613097G>T | CA472434238 | IRF7 | c.1171C>A (p.Arg391=) c.*537C>A (n.*537C>A) c.1258C>A (p.Arg420=) c.1208C>A (n.1208C>A) c.1297C>A (p.Arg433=) c.1210C>A (p.Arg404=) c.940C>A (p.Arg314=) n.373C>A n.495C>A c.*384C>A (n.*384C>A) c.*622C>A (n.*622C>A) c.1294C>A (p.Arg432=) c.1255C>A (p.Arg419=) c.379C>A (p.Arg127=) | |
| 11 | g.613098T>A | CA472434232 | IRF7 | c.1170A>T (p.Ala390=) c.*536A>T (n.*536A>T) c.1257A>T (p.Ala419=) c.1207A>T (n.1207A>T) c.1296A>T (p.Ala432=) c.1209A>T (p.Ala403=) c.939A>T (p.Ala313=) n.372A>T n.494A>T c.*383A>T (n.*383A>T) c.*621A>T (n.*621A>T) c.1293A>T (p.Ala431=) c.1254A>T (p.Ala418=) c.378A>T (p.Ala126=) | |
| 11 | g.613098T>C | CA472434235 | IRF7 | c.1170A>G (p.Ala390=) c.*536A>G (n.*536A>G) c.1257A>G (p.Ala419=) c.1207A>G (n.1207A>G) c.1296A>G (p.Ala432=) c.1209A>G (p.Ala403=) c.939A>G (p.Ala313=) n.372A>G n.494A>G c.*383A>G (n.*383A>G) c.*621A>G (n.*621A>G) c.1293A>G (p.Ala431=) c.1254A>G (p.Ala418=) c.378A>G (p.Ala126=) | |
| 11 | g.613098T>G | CA472434237 | IRF7 | c.1170A>C (p.Ala390=) c.*536A>C (n.*536A>C) c.1257A>C (p.Ala419=) c.1207A>C (n.1207A>C) c.1296A>C (p.Ala432=) c.1209A>C (p.Ala403=) c.939A>C (p.Ala313=) n.372A>C n.494A>C c.*383A>C (n.*383A>C) c.*621A>C (n.*621A>C) c.1293A>C (p.Ala431=) c.1254A>C (p.Ala418=) c.378A>C (p.Ala126=) | |
| 11 | g.613099G>A | CA378978278 | IRF7 | c.1169C>T (p.Ala390Val) c.*535C>T (n.*535C>T) c.1256C>T (p.Ala419Val) c.1206C>T (n.1206C>T) c.1295C>T (p.Ala432Val) c.1208C>T (p.Ala403Val) c.938C>T (p.Ala313Val) n.371C>T n.493C>T c.*382C>T (n.*382C>T) c.*620C>T (n.*620C>T) c.1292C>T (p.Ala431Val) c.1253C>T (p.Ala418Val) c.377C>T (p.Ala126Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.613099G>C | CA378978280 | IRF7 | c.1169C>G (p.Ala390Gly) c.*535C>G (n.*535C>G) c.1256C>G (p.Ala419Gly) c.1206C>G (n.1206C>G) c.1295C>G (p.Ala432Gly) c.1208C>G (p.Ala403Gly) c.938C>G (p.Ala313Gly) n.371C>G n.493C>G c.*382C>G (n.*382C>G) c.*620C>G (n.*620C>G) c.1292C>G (p.Ala431Gly) c.1253C>G (p.Ala418Gly) c.377C>G (p.Ala126Gly) | |
| 11 | g.613099G= | CA1947180813 | IRF7 | c.1169C= (p.Ala390=) c.*535C= (n.*535C=) c.1256C= (p.Ala419=) c.1206C= (n.1206C=) c.1295C= (p.Ala432=) c.1208C= (p.Ala403=) c.938C= (p.Ala313=) n.371C= n.493C= c.*382C= (n.*382C=) c.*620C= (n.*620C=) c.1292C= (p.Ala431=) c.1253C= (p.Ala418=) c.377C= (p.Ala126=) | |
| 11 | g.613099G>T | CA378978282 | IRF7 | c.1169C>A (p.Ala390Glu) c.*535C>A (n.*535C>A) c.1256C>A (p.Ala419Glu) c.1206C>A (n.1206C>A) c.1295C>A (p.Ala432Glu) c.1208C>A (p.Ala403Glu) c.938C>A (p.Ala313Glu) n.371C>A n.493C>A c.*382C>A (n.*382C>A) c.*620C>A (n.*620C>A) c.1292C>A (p.Ala431Glu) c.1253C>A (p.Ala418Glu) c.377C>A (p.Ala126Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.613100C>A | CA378978284 | IRF7 | c.1168G>T (p.Ala390Ser) c.*534G>T (n.*534G>T) c.1255G>T (p.Ala419Ser) c.1205G>T (n.1205G>T) c.1294G>T (p.Ala432Ser) c.1207G>T (p.Ala403Ser) c.937G>T (p.Ala313Ser) n.370G>T n.492G>T c.*381G>T (n.*381G>T) c.*619G>T (n.*619G>T) c.1291G>T (p.Ala431Ser) c.1252G>T (p.Ala418Ser) c.376G>T (p.Ala126Ser) | |
| 11 | g.613100C= | CA1947180821 | IRF7 | c.1168G= (p.Ala390=) c.*534G= (n.*534G=) c.1255G= (p.Ala419=) c.1205G= (n.1205G=) c.1294G= (p.Ala432=) c.1207G= (p.Ala403=) c.937G= (p.Ala313=) n.370G= n.492G= c.*381G= (n.*381G=) c.*619G= (n.*619G=) c.1291G= (p.Ala431=) c.1252G= (p.Ala418=) c.376G= (p.Ala126=) | |
| 11 | g.613100C>G | CA378978286 | IRF7 | c.1168G>C (p.Ala390Pro) c.*534G>C (n.*534G>C) c.1255G>C (p.Ala419Pro) c.1205G>C (n.1205G>C) c.1294G>C (p.Ala432Pro) c.1207G>C (p.Ala403Pro) c.937G>C (p.Ala313Pro) n.370G>C n.492G>C c.*381G>C (n.*381G>C) c.*619G>C (n.*619G>C) c.1291G>C (p.Ala431Pro) c.1252G>C (p.Ala418Pro) c.376G>C (p.Ala126Pro) | |
| 11 | g.613100C>T | CA378978287 | IRF7 | c.1168G>A (p.Ala390Thr) c.*534G>A (n.*534G>A) c.1255G>A (p.Ala419Thr) c.1205G>A (n.1205G>A) c.1294G>A (p.Ala432Thr) c.1207G>A (p.Ala403Thr) c.937G>A (p.Ala313Thr) n.370G>A n.492G>A c.*381G>A (n.*381G>A) c.*619G>A (n.*619G>A) c.1291G>A (p.Ala431Thr) c.1252G>A (p.Ala418Thr) c.376G>A (p.Ala126Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.613101C>A | CA472434239 | IRF7 | c.1167G>T (p.Arg389=) c.*533G>T (n.*533G>T) c.1254G>T (p.Arg418=) c.1204G>T (n.1204G>T) c.1293G>T (p.Arg431=) c.1206G>T (p.Arg402=) c.936G>T (p.Arg312=) n.369G>T n.491G>T c.*380G>T (n.*380G>T) c.*618G>T (n.*618G>T) c.1290G>T (p.Arg430=) c.1251G>T (p.Arg417=) c.375G>T (p.Arg125=) | |
| 11 | g.613101C>G | CA472434240 | IRF7 | c.1167G>C (p.Arg389=) c.*533G>C (n.*533G>C) c.1254G>C (p.Arg418=) c.1204G>C (n.1204G>C) c.1293G>C (p.Arg431=) c.1206G>C (p.Arg402=) c.936G>C (p.Arg312=) n.369G>C n.491G>C c.*380G>C (n.*380G>C) c.*618G>C (n.*618G>C) c.1290G>C (p.Arg430=) c.1251G>C (p.Arg417=) c.375G>C (p.Arg125=) | |
| 11 | g.613101C>T | CA472434241 | IRF7 | c.1167G>A (p.Arg389=) c.*533G>A (n.*533G>A) c.1254G>A (p.Arg418=) c.1204G>A (n.1204G>A) c.1293G>A (p.Arg431=) c.1206G>A (p.Arg402=) c.936G>A (p.Arg312=) n.369G>A n.491G>A c.*380G>A (n.*380G>A) c.*618G>A (n.*618G>A) c.1290G>A (p.Arg430=) c.1251G>A (p.Arg417=) c.375G>A (p.Arg125=) | |
| 11 | g.613102C>A | CA378978290 | IRF7 | c.1166G>T (p.Arg389Leu) c.*532G>T (n.*532G>T) c.1253G>T (p.Arg418Leu) c.1203G>T (n.1203G>T) c.1292G>T (p.Arg431Leu) c.1205G>T (p.Arg402Leu) c.935G>T (p.Arg312Leu) n.368G>T n.490G>T c.*379G>T (n.*379G>T) c.*617G>T (n.*617G>T) c.1289G>T (p.Arg430Leu) c.1250G>T (p.Arg417Leu) c.374G>T (p.Arg125Leu) | |
| 11 | g.613102C= | CA1947180827 | IRF7 | c.1166G= (p.Arg389=) c.*532G= (n.*532G=) c.1253G= (p.Arg418=) c.1203G= (n.1203G=) c.1292G= (p.Arg431=) c.1205G= (p.Arg402=) c.935G= (p.Arg312=) n.368G= n.490G= c.*379G= (n.*379G=) c.*617G= (n.*617G=) c.1289G= (p.Arg430=) c.1250G= (p.Arg417=) c.374G= (p.Arg125=) | |
| 11 | g.613102C>G | CA378978292 | IRF7 | c.1166G>C (p.Arg389Pro) c.*532G>C (n.*532G>C) c.1253G>C (p.Arg418Pro) c.1203G>C (n.1203G>C) c.1292G>C (p.Arg431Pro) c.1205G>C (p.Arg402Pro) c.935G>C (p.Arg312Pro) n.368G>C n.490G>C c.*379G>C (n.*379G>C) c.*617G>C (n.*617G>C) c.1289G>C (p.Arg430Pro) c.1250G>C (p.Arg417Pro) c.374G>C (p.Arg125Pro) | gnomAD v4 |
| 11 | g.613102C>T | CA5783519 | IRF7 | c.1166G>A (p.Arg389Gln) c.*532G>A (n.*532G>A) c.1253G>A (p.Arg418Gln) c.1203G>A (n.1203G>A) c.1292G>A (p.Arg431Gln) c.1205G>A (p.Arg402Gln) c.935G>A (p.Arg312Gln) n.368G>A n.490G>A c.*379G>A (n.*379G>A) c.*617G>A (n.*617G>A) c.1289G>A (p.Arg430Gln) c.1250G>A (p.Arg417Gln) c.374G>A (p.Arg125Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.613103G>A | CA216910148 | IRF7 | c.1165C>T (p.Arg389Trp) c.*531C>T (n.*531C>T) c.1252C>T (p.Arg418Trp) c.1202C>T (n.1202C>T) c.1291C>T (p.Arg431Trp) c.1204C>T (p.Arg402Trp) c.934C>T (p.Arg312Trp) n.367C>T n.489C>T c.*378C>T (n.*378C>T) c.*616C>T (n.*616C>T) c.1288C>T (p.Arg430Trp) c.1249C>T (p.Arg417Trp) c.373C>T (p.Arg125Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.613103G>C | CA378978295 | IRF7 | c.1165C>G (p.Arg389Gly) c.*531C>G (n.*531C>G) c.1252C>G (p.Arg418Gly) c.1202C>G (n.1202C>G) c.1291C>G (p.Arg431Gly) c.1204C>G (p.Arg402Gly) c.934C>G (p.Arg312Gly) n.367C>G n.489C>G c.*378C>G (n.*378C>G) c.*616C>G (n.*616C>G) c.1288C>G (p.Arg430Gly) c.1249C>G (p.Arg417Gly) c.373C>G (p.Arg125Gly) | |
| 11 | g.613103G= | CA1947180830 | IRF7 | c.1165C= (p.Arg389=) c.*531C= (n.*531C=) c.1252C= (p.Arg418=) c.1202C= (n.1202C=) c.1291C= (p.Arg431=) c.1204C= (p.Arg402=) c.934C= (p.Arg312=) n.367C= n.489C= c.*378C= (n.*378C=) c.*616C= (n.*616C=) c.1288C= (p.Arg430=) c.1249C= (p.Arg417=) c.373C= (p.Arg125=) | |
| 11 | g.613103G>T | CA472434242 | IRF7 | c.1165C>A (p.Arg389=) c.*531C>A (n.*531C>A) c.1252C>A (p.Arg418=) c.1202C>A (n.1202C>A) c.1291C>A (p.Arg431=) c.1204C>A (p.Arg402=) c.934C>A (p.Arg312=) n.367C>A n.489C>A c.*378C>A (n.*378C>A) c.*616C>A (n.*616C>A) c.1288C>A (p.Arg430=) c.1249C>A (p.Arg417=) c.373C>A (p.Arg125=) | |
| 11 | g.613104del | CA2573868051 | IRF7 | c.1165del (p.Arg389GlyfsTer?) c.*531del (n.*531del) c.1252del (p.Arg418GlyfsTer?) c.1202del (n.1202del) c.1291del (p.Arg431GlyfsTer?) c.1204del (p.Arg402GlyfsTer?) c.934del (p.Arg312GlyfsTer?) n.367del n.489del c.*378del (n.*378del) c.*616del (n.*616del) c.1288del (p.Arg430GlyfsTer?) c.1249del (p.Arg417GlyfsTer?) c.373del (p.Arg125GlyfsTer?) | |
| 11 | g.613104G>A | CA472434243 | IRF7 | c.1164C>T (p.Phe388=) c.*530C>T (n.*530C>T) c.1251C>T (p.Phe417=) c.1201C>T (n.1201C>T) c.1290C>T (p.Phe430=) c.1203C>T (p.Phe401=) c.933C>T (p.Phe311=) n.366C>T n.488C>T c.*377C>T (n.*377C>T) c.*615C>T (n.*615C>T) c.1287C>T (p.Phe429=) c.1248C>T (p.Phe416=) c.372C>T (p.Phe124=) | |
| 11 | g.613104G>C | CA378978297 | IRF7 | c.1164C>G (p.Phe388Leu) c.*530C>G (n.*530C>G) c.1251C>G (p.Phe417Leu) c.1201C>G (n.1201C>G) c.1290C>G (p.Phe430Leu) c.1203C>G (p.Phe401Leu) c.933C>G (p.Phe311Leu) n.366C>G n.488C>G c.*377C>G (n.*377C>G) c.*615C>G (n.*615C>G) c.1287C>G (p.Phe429Leu) c.1248C>G (p.Phe416Leu) c.372C>G (p.Phe124Leu) | |
| 11 | g.613104G= | CA1947180833 | IRF7 | c.1164C= (p.Phe388=) c.*530C= (n.*530C=) c.1251C= (p.Phe417=) c.1201C= (n.1201C=) c.1290C= (p.Phe430=) c.1203C= (p.Phe401=) c.933C= (p.Phe311=) n.366C= n.488C= c.*377C= (n.*377C=) c.*615C= (n.*615C=) c.1287C= (p.Phe429=) c.1248C= (p.Phe416=) c.372C= (p.Phe124=) | |
| 11 | g.613104G>T | CA378978299 | IRF7 | c.1164C>A (p.Phe388Leu) c.*530C>A (n.*530C>A) c.1251C>A (p.Phe417Leu) c.1201C>A (n.1201C>A) c.1290C>A (p.Phe430Leu) c.1203C>A (p.Phe401Leu) c.933C>A (p.Phe311Leu) n.366C>A n.488C>A c.*377C>A (n.*377C>A) c.*615C>A (n.*615C>A) c.1287C>A (p.Phe429Leu) c.1248C>A (p.Phe416Leu) c.372C>A (p.Phe124Leu) | dbSNP |
| 11 | g.613105A>C | CA378978301 | IRF7 | c.1163T>G (p.Phe388Cys) c.*529T>G (n.*529T>G) c.1250T>G (p.Phe417Cys) c.1200T>G (n.1200T>G) c.1289T>G (p.Phe430Cys) c.1202T>G (p.Phe401Cys) c.932T>G (p.Phe311Cys) n.365T>G n.487T>G c.*376T>G (n.*376T>G) c.*614T>G (n.*614T>G) c.1286T>G (p.Phe429Cys) c.1247T>G (p.Phe416Cys) c.371T>G (p.Phe124Cys) | |
| 11 | g.613105A>G | CA378978304 | IRF7 | c.1163T>C (p.Phe388Ser) c.*529T>C (n.*529T>C) c.1250T>C (p.Phe417Ser) c.1200T>C (n.1200T>C) c.1289T>C (p.Phe430Ser) c.1202T>C (p.Phe401Ser) c.932T>C (p.Phe311Ser) n.365T>C n.487T>C c.*376T>C (n.*376T>C) c.*614T>C (n.*614T>C) c.1286T>C (p.Phe429Ser) c.1247T>C (p.Phe416Ser) c.371T>C (p.Phe124Ser) | |
| 11 | g.613105A>T | CA378978303 | IRF7 | c.1163T>A (p.Phe388Tyr) c.*529T>A (n.*529T>A) c.1250T>A (p.Phe417Tyr) c.1200T>A (n.1200T>A) c.1289T>A (p.Phe430Tyr) c.1202T>A (p.Phe401Tyr) c.932T>A (p.Phe311Tyr) n.365T>A n.487T>A c.*376T>A (n.*376T>A) c.*614T>A (n.*614T>A) c.1286T>A (p.Phe429Tyr) c.1247T>A (p.Phe416Tyr) c.371T>A (p.Phe124Tyr) | |
| 11 | g.613106A>C | CA378978306 | IRF7 | c.1162T>G (p.Phe388Val) c.*528T>G (n.*528T>G) c.1249T>G (p.Phe417Val) c.1199T>G (n.1199T>G) c.1288T>G (p.Phe430Val) c.1201T>G (p.Phe401Val) c.931T>G (p.Phe311Val) n.364T>G n.486T>G c.*375T>G (n.*375T>G) c.*613T>G (n.*613T>G) c.1285T>G (p.Phe429Val) c.1246T>G (p.Phe416Val) c.370T>G (p.Phe124Val) | |
| 11 | g.613106A>G | CA378978309 | IRF7 | c.1162T>C (p.Phe388Leu) c.*528T>C (n.*528T>C) c.1249T>C (p.Phe417Leu) c.1199T>C (n.1199T>C) c.1288T>C (p.Phe430Leu) c.1201T>C (p.Phe401Leu) c.931T>C (p.Phe311Leu) n.364T>C n.486T>C c.*375T>C (n.*375T>C) c.*613T>C (n.*613T>C) c.1285T>C (p.Phe429Leu) c.1246T>C (p.Phe416Leu) c.370T>C (p.Phe124Leu) | |
| 11 | g.613106A>T | CA378978310 | IRF7 | c.1162T>A (p.Phe388Ile) c.*528T>A (n.*528T>A) c.1249T>A (p.Phe417Ile) c.1199T>A (n.1199T>A) c.1288T>A (p.Phe430Ile) c.1201T>A (p.Phe401Ile) c.931T>A (p.Phe311Ile) n.364T>A n.486T>A c.*375T>A (n.*375T>A) c.*613T>A (n.*613T>A) c.1285T>A (p.Phe429Ile) c.1246T>A (p.Phe416Ile) c.370T>A (p.Phe124Ile) |