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 |
|---|---|---|---|---|---|
| 15 | g.68335731C>A | CA392977728 | ITGA11 | c.1391G>T (p.Ser464Ile) n.280G>T n.370G>T c.1085G>T (p.Ser362Ile) c.1184G>T (p.Ser395Ile) | |
| 15 | g.68335731C= | CA2184934326 | ITGA11 | c.1391G= (p.Ser464=) n.280G= n.370G= c.1085G= (p.Ser362=) c.1184G= (p.Ser395=) | |
| 15 | g.68335731C>G | CA392977729 | ITGA11 | c.1391G>C (p.Ser464Thr) n.280G>C n.370G>C c.1085G>C (p.Ser362Thr) c.1184G>C (p.Ser395Thr) | |
| 15 | g.68335731C>T | CA392977730 | ITGA11 | c.1391G>A (p.Ser464Asn) n.280G>A n.370G>A c.1085G>A (p.Ser362Asn) c.1184G>A (p.Ser395Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335732T>A | CA392977731 | ITGA11 | c.1390A>T (p.Ser464Cys) n.279A>T n.369A>T c.1084A>T (p.Ser362Cys) c.1183A>T (p.Ser395Cys) | |
| 15 | g.68335732T>C | CA392977732 | ITGA11 | c.1390A>G (p.Ser464Gly) n.279A>G n.369A>G c.1084A>G (p.Ser362Gly) c.1183A>G (p.Ser395Gly) | |
| 15 | g.68335732T>G | CA392977733 | ITGA11 | c.1390A>C (p.Ser464Arg) n.279A>C n.369A>C c.1084A>C (p.Ser362Arg) c.1183A>C (p.Ser395Arg) | |
| 15 | g.68335733C>A | CA490946283 | ITGA11 | c.1389G>T (p.Arg463=) n.278G>T n.368G>T c.1083G>T (p.Arg361=) c.1182G>T (p.Arg394=) | |
| 15 | g.68335733C>G | CA490946284 | ITGA11 | c.1389G>C (p.Arg463=) n.278G>C n.368G>C c.1083G>C (p.Arg361=) c.1182G>C (p.Arg394=) | |
| 15 | g.68335733C>T | CA490946285 | ITGA11 | c.1389G>A (p.Arg463=) n.278G>A n.368G>A c.1083G>A (p.Arg361=) c.1182G>A (p.Arg394=) | |
| 15 | g.68335734C>A | CA392977734 | ITGA11 | c.1388G>T (p.Arg463Leu) n.277G>T n.367G>T c.1082G>T (p.Arg361Leu) c.1181G>T (p.Arg394Leu) | |
| 15 | g.68335734C= | CA2184934327 | ITGA11 | c.1388G= (p.Arg463=) n.277G= n.367G= c.1082G= (p.Arg361=) c.1181G= (p.Arg394=) | |
| 15 | g.68335734C>G | CA392977735 | ITGA11 | c.1388G>C (p.Arg463Pro) n.277G>C n.367G>C c.1082G>C (p.Arg361Pro) c.1181G>C (p.Arg394Pro) | |
| 15 | g.68335734C>T | CA7631849 | ITGA11 | c.1388G>A (p.Arg463Gln) n.277G>A n.367G>A c.1082G>A (p.Arg361Gln) c.1181G>A (p.Arg394Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.68335735G>A | CA7631850 | ITGA11 | c.1387C>T (p.Arg463Trp) n.276C>T n.366C>T c.1081C>T (p.Arg361Trp) c.1180C>T (p.Arg394Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335735G>C | CA392977736 | ITGA11 | c.1387C>G (p.Arg463Gly) n.276C>G n.366C>G c.1081C>G (p.Arg361Gly) c.1180C>G (p.Arg394Gly) | dbSNP gnomAD v2 |
| 15 | g.68335735G= | CA2184934328 | ITGA11 | c.1387C= (p.Arg463=) n.276C= n.366C= c.1081C= (p.Arg361=) c.1180C= (p.Arg394=) | |
| 15 | g.68335735G>T | CA490946286 | ITGA11 | c.1387C>A (p.Arg463=) n.276C>A n.366C>A c.1081C>A (p.Arg361=) c.1180C>A (p.Arg394=) | gnomAD v4 COSMIC |
| 15 | g.68335736G>A | CA490946287 | ITGA11 | c.1386C>T (p.Asn462=) n.275C>T n.365C>T c.1080C>T (p.Asn360=) c.1179C>T (p.Asn393=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.68335736G>C | CA392977738 | ITGA11 | c.1386C>G (p.Asn462Lys) n.275C>G n.365C>G c.1080C>G (p.Asn360Lys) c.1179C>G (p.Asn393Lys) | |
| 15 | g.68335736G= | CA2184934329 | ITGA11 | c.1386C= (p.Asn462=) n.275C= n.365C= c.1080C= (p.Asn360=) c.1179C= (p.Asn393=) | |
| 15 | g.68335736G>T | CA392977737 | ITGA11 | c.1386C>A (p.Asn462Lys) n.275C>A n.365C>A c.1080C>A (p.Asn360Lys) c.1179C>A (p.Asn393Lys) | gnomAD v4 |
| 15 | g.68335737T>A | CA392977739 | ITGA11 | c.1385A>T (p.Asn462Ile) n.274A>T n.364A>T c.1079A>T (p.Asn360Ile) c.1178A>T (p.Asn393Ile) | |
| 15 | g.68335737T>C | CA392977740 | ITGA11 | c.1385A>G (p.Asn462Ser) n.274A>G n.364A>G c.1079A>G (p.Asn360Ser) c.1178A>G (p.Asn393Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335737T>G | CA392977741 | ITGA11 | c.1385A>C (p.Asn462Thr) n.274A>C n.364A>C c.1079A>C (p.Asn360Thr) c.1178A>C (p.Asn393Thr) | |
| 15 | g.68335737T= | CA2184934330 | ITGA11 | c.1385A= (p.Asn462=) n.274A= n.364A= c.1079A= (p.Asn360=) c.1178A= (p.Asn393=) | |
| 15 | g.68335738T>A | CA392977742 | ITGA11 | c.1384A>T (p.Asn462Tyr) n.273A>T n.363A>T c.1078A>T (p.Asn360Tyr) c.1177A>T (p.Asn393Tyr) | |
| 15 | g.68335738T>C | CA392977743 | ITGA11 | c.1384A>G (p.Asn462Asp) n.273A>G n.363A>G c.1078A>G (p.Asn360Asp) c.1177A>G (p.Asn393Asp) | |
| 15 | g.68335738T>G | CA392977744 | ITGA11 | c.1384A>C (p.Asn462His) n.273A>C n.363A>C c.1078A>C (p.Asn360His) c.1177A>C (p.Asn393His) | |
| 15 | g.68335739G>A | CA490946288 | ITGA11 | c.1383C>T (p.Asn461=) n.272C>T n.362C>T c.1077C>T (p.Asn359=) c.1176C>T (p.Asn392=) | |
| 15 | g.68335739G>C | CA392977745 | ITGA11 | c.1383C>G (p.Asn461Lys) n.272C>G n.362C>G c.1077C>G (p.Asn359Lys) c.1176C>G (p.Asn392Lys) | |
| 15 | g.68335739G>T | CA392977746 | ITGA11 | c.1383C>A (p.Asn461Lys) n.272C>A n.362C>A c.1077C>A (p.Asn359Lys) c.1176C>A (p.Asn392Lys) | |
| 15 | g.68335740T>A | CA392977747 | ITGA11 | c.1382A>T (p.Asn461Ile) n.271A>T n.361A>T c.1076A>T (p.Asn359Ile) c.1175A>T (p.Asn392Ile) | |
| 15 | g.68335740T>C | CA392977748 | ITGA11 | c.1382A>G (p.Asn461Ser) n.271A>G n.361A>G c.1076A>G (p.Asn359Ser) c.1175A>G (p.Asn392Ser) | |
| 15 | g.68335740T>G | CA392977749 | ITGA11 | c.1382A>C (p.Asn461Thr) n.271A>C n.361A>C c.1076A>C (p.Asn359Thr) c.1175A>C (p.Asn392Thr) | |
| 15 | g.68335741T>A | CA392977750 | ITGA11 | c.1381A>T (p.Asn461Tyr) n.270A>T n.360A>T c.1075A>T (p.Asn359Tyr) c.1174A>T (p.Asn392Tyr) | |
| 15 | g.68335741T>C | CA7631851 | ITGA11 | c.1381A>G (p.Asn461Asp) n.270A>G n.360A>G c.1075A>G (p.Asn359Asp) c.1174A>G (p.Asn392Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.68335741T>G | CA392977751 | ITGA11 | c.1381A>C (p.Asn461His) n.270A>C n.360A>C c.1075A>C (p.Asn359His) c.1174A>C (p.Asn392His) | |
| 15 | g.68335741T= | CA2184934331 | ITGA11 | c.1381A= (p.Asn461=) n.270A= n.360A= c.1075A= (p.Asn359=) c.1174A= (p.Asn392=) | |
| 15 | g.68335742G>A | CA490946289 | ITGA11 | c.1380C>T (p.His460=) n.269C>T n.359C>T c.1074C>T (p.His358=) c.1173C>T (p.His391=) | |
| 15 | g.68335742G>C | CA392977752 | ITGA11 | c.1380C>G (p.His460Gln) n.269C>G n.359C>G c.1074C>G (p.His358Gln) c.1173C>G (p.His391Gln) | |
| 15 | g.68335742G>T | CA392977753 | ITGA11 | c.1380C>A (p.His460Gln) n.269C>A n.359C>A c.1074C>A (p.His358Gln) c.1173C>A (p.His391Gln) | dbSNP |
| 15 | g.68335743T>A | CA392977754 | ITGA11 | c.1379A>T (p.His460Leu) n.268A>T n.358A>T c.1073A>T (p.His358Leu) c.1172A>T (p.His391Leu) | gnomAD v4 |
| 15 | g.68335743T>C | CA392977755 | ITGA11 | c.1379A>G (p.His460Arg) n.268A>G n.358A>G c.1073A>G (p.His358Arg) c.1172A>G (p.His391Arg) | |
| 15 | g.68335743T>G | CA392977756 | ITGA11 | c.1379A>C (p.His460Pro) n.268A>C n.358A>C c.1073A>C (p.His358Pro) c.1172A>C (p.His391Pro) | |
| 15 | g.68335744G>A | CA392977757 | ITGA11 | c.1378C>T (p.His460Tyr) n.267C>T n.357C>T c.1072C>T (p.His358Tyr) c.1171C>T (p.His391Tyr) | |
| 15 | g.68335744G>C | CA392977758 | ITGA11 | c.1378C>G (p.His460Asp) n.267C>G n.357C>G c.1072C>G (p.His358Asp) c.1171C>G (p.His391Asp) | |
| 15 | g.68335744G= | CA2184934332 | ITGA11 | c.1378C= (p.His460=) n.267C= n.357C= c.1072C= (p.His358=) c.1171C= (p.His391=) | |
| 15 | g.68335744G>T | CA392977759 | ITGA11 | c.1378C>A (p.His460Asn) n.267C>A n.357C>A c.1072C>A (p.His358Asn) c.1171C>A (p.His391Asn) | |
| 15 | g.68335744_68335745insAA | CA618703905 | ITGA11 | c.1377_1378insTT (p.His460PhefsTer18) n.266_267insTT n.356_357insTT c.1071_1072insTT (p.His358PhefsTer18) c.1170_1171insTT (p.His391PhefsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335745C>A | CA392977760 | ITGA11 | c.1377G>T (p.Met459Ile) n.266G>T n.356G>T c.1071G>T (p.Met357Ile) c.1170G>T (p.Met390Ile) | dbSNP |
| 15 | g.68335745C= | CA2184934333 | ITGA11 | c.1377G= (p.Met459=) n.266G= n.356G= c.1071G= (p.Met357=) c.1170G= (p.Met390=) | |
| 15 | g.68335745C>G | CA392977761 | ITGA11 | c.1377G>C (p.Met459Ile) n.266G>C n.356G>C c.1071G>C (p.Met357Ile) c.1170G>C (p.Met390Ile) | |
| 15 | g.68335745C>T | CA392977762 | ITGA11 | c.1377G>A (p.Met459Ile) n.266G>A n.356G>A c.1071G>A (p.Met357Ile) c.1170G>A (p.Met390Ile) | gnomAD v4 |
| 15 | g.68335746A= | CA2184934334 | ITGA11 | c.1376T= (p.Met459=) n.265T= n.355T= c.1070T= (p.Met357=) c.1169T= (p.Met390=) | |
| 15 | g.68335746A>C | CA392977763 | ITGA11 | c.1376T>G (p.Met459Arg) n.265T>G n.355T>G c.1070T>G (p.Met357Arg) c.1169T>G (p.Met390Arg) | gnomAD v4 |
| 15 | g.68335746A>G | CA392977764 | ITGA11 | c.1376T>C (p.Met459Thr) n.265T>C n.355T>C c.1070T>C (p.Met357Thr) c.1169T>C (p.Met390Thr) | |
| 15 | g.68335746A>T | CA392977765 | ITGA11 | c.1376T>A (p.Met459Lys) n.265T>A n.355T>A c.1070T>A (p.Met357Lys) c.1169T>A (p.Met390Lys) | |
| 15 | g.68335746_68335747insGGAACAGGA | CA618703906 | ITGA11 | c.1376_1377insCCTGTTCCT (p.Met459delinsIleLeuPheLeu) n.265_266insCCTGTTCCT n.355_356insCCTGTTCCT c.1070_1071insCCTGTTCCT (p.Met357delinsIleLeuPheLeu) c.1169_1170insCCTGTTCCT (p.Met390delinsIleLeuPheLeu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335746_68335747insCAGGAACAGGATGTTCTG | CA2184934335 | ITGA11 | c.1375_1376insCAGAACATCCTGTTCCTG (p.Met459delinsThrGluHisProValProVal) n.264_265insCAGAACATCCTGTTCCTG n.354_355insCAGAACATCCTGTTCCTG c.1069_1070insCAGAACATCCTGTTCCTG (p.Met357delinsThrGluHisProValProVal) c.1168_1169insCAGAACATCCTGTTCCTG (p.Met390delinsThrGluHisProValProVal) | dbSNP |
| 15 | g.68335747T>A | CA392977767 | ITGA11 | c.1375A>T (p.Met459Leu) n.264A>T n.354A>T c.1069A>T (p.Met357Leu) c.1168A>T (p.Met390Leu) | |
| 15 | g.68335747T>C | CA7631852 | ITGA11 | c.1375A>G (p.Met459Val) n.264A>G n.354A>G c.1069A>G (p.Met357Val) c.1168A>G (p.Met390Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335747T>G | CA392977766 | ITGA11 | c.1375A>C (p.Met459Leu) n.264A>C n.354A>C c.1069A>C (p.Met357Leu) c.1168A>C (p.Met390Leu) | |
| 15 | g.68335747T= | CA2184934336 | ITGA11 | c.1375A= (p.Met459=) n.264A= n.354A= c.1069A= (p.Met357=) c.1168A= (p.Met390=) | |
| 15 | g.68335748G>A | CA490946290 | ITGA11 | c.1374C>T (p.Thr458=) n.263C>T n.353C>T c.1068C>T (p.Thr356=) c.1167C>T (p.Thr389=) | gnomAD v4 COSMIC |
| 15 | g.68335748G>C | CA490946291 | ITGA11 | c.1374C>G (p.Thr458=) n.263C>G n.353C>G c.1068C>G (p.Thr356=) c.1167C>G (p.Thr389=) | |
| 15 | g.68335748G= | CA2184934337 | ITGA11 | c.1374C= (p.Thr458=) n.263C= n.353C= c.1068C= (p.Thr356=) c.1167C= (p.Thr389=) | |
| 15 | g.68335748G>T | CA490946292 | ITGA11 | c.1374C>A (p.Thr458=) n.263C>A n.353C>A c.1068C>A (p.Thr356=) c.1167C>A (p.Thr389=) | dbSNP |
| 15 | g.68335748_68335749insTTCTGTT | CA618703907 | ITGA11 | c.1373_1374insAACAGAA (p.Met459ThrfsTer27) n.262_263insAACAGAA n.352_353insAACAGAA c.1067_1068insAACAGAA (p.Met357ThrfsTer27) c.1166_1167insAACAGAA (p.Met390ThrfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335749G>A | CA392977770 | ITGA11 | c.1373C>T (p.Thr458Ile) n.262C>T n.352C>T c.1067C>T (p.Thr356Ile) c.1166C>T (p.Thr389Ile) | gnomAD v4 COSMIC |
| 15 | g.68335749G>C | CA392977768 | ITGA11 | c.1373C>G (p.Thr458Ser) n.262C>G n.352C>G c.1067C>G (p.Thr356Ser) c.1166C>G (p.Thr389Ser) | |
| 15 | g.68335749G>T | CA392977769 | ITGA11 | c.1373C>A (p.Thr458Asn) n.262C>A n.352C>A c.1067C>A (p.Thr356Asn) c.1166C>A (p.Thr389Asn) | |
| 15 | g.68335750T>A | CA392977771 | ITGA11 | c.1372A>T (p.Thr458Ser) n.261A>T n.351A>T c.1066A>T (p.Thr356Ser) c.1165A>T (p.Thr389Ser) | |
| 15 | g.68335750T>C | CA392977772 | ITGA11 | c.1372A>G (p.Thr458Ala) n.261A>G n.351A>G c.1066A>G (p.Thr356Ala) c.1165A>G (p.Thr389Ala) | gnomAD v4 |
| 15 | g.68335750T>G | CA392977773 | ITGA11 | c.1372A>C (p.Thr458Pro) n.261A>C n.351A>C c.1066A>C (p.Thr356Pro) c.1165A>C (p.Thr389Pro) | |
| 15 | g.68335751G>A | CA490946293 | ITGA11 | c.1371C>T (p.Phe457=) n.260C>T n.350C>T c.1065C>T (p.Phe355=) c.1164C>T (p.Phe388=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335751G>C | CA392977774 | ITGA11 | c.1371C>G (p.Phe457Leu) n.260C>G n.350C>G c.1065C>G (p.Phe355Leu) c.1164C>G (p.Phe388Leu) | |
| 15 | g.68335751G= | CA2184934338 | ITGA11 | c.1371C= (p.Phe457=) n.260C= n.350C= c.1065C= (p.Phe355=) c.1164C= (p.Phe388=) | |
| 15 | g.68335751G>T | CA392977775 | ITGA11 | c.1371C>A (p.Phe457Leu) n.260C>A n.350C>A c.1065C>A (p.Phe355Leu) c.1164C>A (p.Phe388Leu) | |
| 15 | g.68335752A>C | CA392977776 | ITGA11 | c.1370T>G (p.Phe457Cys) n.259T>G n.349T>G c.1064T>G (p.Phe355Cys) c.1163T>G (p.Phe388Cys) | |
| 15 | g.68335752A>G | CA392977777 | ITGA11 | c.1370T>C (p.Phe457Ser) n.259T>C n.349T>C c.1064T>C (p.Phe355Ser) c.1163T>C (p.Phe388Ser) | gnomAD v4 |
| 15 | g.68335752A>T | CA392977778 | ITGA11 | c.1370T>A (p.Phe457Tyr) n.259T>A n.349T>A c.1064T>A (p.Phe355Tyr) c.1163T>A (p.Phe388Tyr) | |
| 15 | g.68335753A>C | CA392977779 | ITGA11 | c.1369T>G (p.Phe457Val) n.258T>G n.348T>G c.1063T>G (p.Phe355Val) c.1162T>G (p.Phe388Val) | |
| 15 | g.68335753A>G | CA392977780 | ITGA11 | c.1369T>C (p.Phe457Leu) n.258T>C n.348T>C c.1063T>C (p.Phe355Leu) c.1162T>C (p.Phe388Leu) | |
| 15 | g.68335753A>T | CA392977781 | ITGA11 | c.1369T>A (p.Phe457Ile) n.258T>A n.348T>A c.1063T>A (p.Phe355Ile) c.1162T>A (p.Phe388Ile) | |
| 15 | g.68335754C>A | CA490946294 | ITGA11 | c.1368G>T (p.Leu456=) n.257G>T n.347G>T c.1062G>T (p.Leu354=) c.1161G>T (p.Leu387=) | |
| 15 | g.68335754C>G | CA490946295 | ITGA11 | c.1368G>C (p.Leu456=) n.257G>C n.347G>C c.1062G>C (p.Leu354=) c.1161G>C (p.Leu387=) | |
| 15 | g.68335754C>T | CA490946296 | ITGA11 | c.1368G>A (p.Leu456=) n.257G>A n.347G>A c.1062G>A (p.Leu354=) c.1161G>A (p.Leu387=) | |
| 15 | g.68335755A= | CA2184934339 | ITGA11 | c.1367T= (p.Leu456=) n.256T= n.346T= c.1061T= (p.Leu354=) c.1160T= (p.Leu387=) | |
| 15 | g.68335755A>C | CA392977782 | ITGA11 | c.1367T>G (p.Leu456Arg) n.256T>G n.346T>G c.1061T>G (p.Leu354Arg) c.1160T>G (p.Leu387Arg) | |
| 15 | g.68335755A>G | CA272443297 | ITGA11 | c.1367T>C (p.Leu456Pro) n.256T>C n.346T>C c.1061T>C (p.Leu354Pro) c.1160T>C (p.Leu387Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.68335755A>T | CA392977783 | ITGA11 | c.1367T>A (p.Leu456Gln) n.256T>A n.346T>A c.1061T>A (p.Leu354Gln) c.1160T>A (p.Leu387Gln) | COSMIC |
| 15 | g.68335756G>A | CA490946297 | ITGA11 | c.1366C>T (p.Leu456=) n.255C>T n.345C>T c.1060C>T (p.Leu354=) c.1159C>T (p.Leu387=) | |
| 15 | g.68335756G>C | CA392977784 | ITGA11 | c.1366C>G (p.Leu456Val) n.255C>G n.345C>G c.1060C>G (p.Leu354Val) c.1159C>G (p.Leu387Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335756G= | CA2184934340 | ITGA11 | c.1366C= (p.Leu456=) n.255C= n.345C= c.1060C= (p.Leu354=) c.1159C= (p.Leu387=) | |
| 15 | g.68335756G>T | CA392977785 | ITGA11 | c.1366C>A (p.Leu456Met) n.255C>A n.345C>A c.1060C>A (p.Leu354Met) c.1159C>A (p.Leu387Met) | |
| 15 | g.68335757G>A | CA490946299 | ITGA11 | c.1365C>T (p.Ile455=) n.254C>T n.344C>T c.1059C>T (p.Ile353=) c.1158C>T (p.Ile386=) | |
| 15 | g.68335757G>C | CA392977786 | ITGA11 | c.1365C>G (p.Ile455Met) n.254C>G n.344C>G c.1059C>G (p.Ile353Met) c.1158C>G (p.Ile386Met) | |
| 15 | g.68335757G= | CA2184934341 | ITGA11 | c.1365C= (p.Ile455=) n.254C= n.344C= c.1059C= (p.Ile353=) c.1158C= (p.Ile386=) | |
| 15 | g.68335757G>T | CA490946298 | ITGA11 | c.1365C>A (p.Ile455=) n.254C>A n.344C>A c.1059C>A (p.Ile353=) c.1158C>A (p.Ile386=) | dbSNP |
| 15 | g.68335759_68335761del | CA2629178796 | ITGA11 | c.1363_1365del (p.Ile455del) n.252_254del n.342_344del c.1057_1059del (p.Ile353del) c.1156_1158del (p.Ile386del) | gnomAD v4 |
| 15 | g.68335758A>C | CA392977787 | ITGA11 | c.1364T>G (p.Ile455Ser) n.253T>G n.343T>G c.1058T>G (p.Ile353Ser) c.1157T>G (p.Ile386Ser) | |
| 15 | g.68335758A>G | CA392977788 | ITGA11 | c.1364T>C (p.Ile455Thr) n.253T>C n.343T>C c.1058T>C (p.Ile353Thr) c.1157T>C (p.Ile386Thr) | |
| 15 | g.68335758A>T | CA392977789 | ITGA11 | c.1364T>A (p.Ile455Asn) n.253T>A n.343T>A c.1058T>A (p.Ile353Asn) c.1157T>A (p.Ile386Asn) | |
| 15 | g.68335758_68335759delinsAT | CA2184934342 | ITGA11 | c.1363_1364delinsAT (p.Ile455=) n.252_253delinsAT n.342_343delinsAT c.1057_1058delinsAT (p.Ile353=) c.1156_1157delinsAT (p.Ile386=) | |
| 15 | g.68335759del | CA919581030 | ITGA11 | c.1363del (p.Ile455SerfsTer22) n.252del n.342del c.1057del (p.Ile353SerfsTer22) c.1156del (p.Ile386SerfsTer22) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.68335759T>A | CA392977790 | ITGA11 | c.1363A>T (p.Ile455Phe) n.252A>T n.342A>T c.1057A>T (p.Ile353Phe) c.1156A>T (p.Ile386Phe) | |
| 15 | g.68335759T>C | CA392977791 | ITGA11 | c.1363A>G (p.Ile455Val) n.252A>G n.342A>G c.1057A>G (p.Ile353Val) c.1156A>G (p.Ile386Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.68335759T>G | CA392977792 | ITGA11 | c.1363A>C (p.Ile455Leu) n.252A>C n.342A>C c.1057A>C (p.Ile353Leu) c.1156A>C (p.Ile386Leu) | gnomAD v4 |
| 15 | g.68335759T= | CA2184934343 | ITGA11 | c.1363A= (p.Ile455=) n.252A= n.342A= c.1057A= (p.Ile353=) c.1156A= (p.Ile386=) | |
| 15 | g.68335760G>A | CA272443302 | ITGA11 | c.1362C>T (p.Val454=) n.251C>T n.341C>T c.1056C>T (p.Val352=) c.1155C>T (p.Val385=) | dbSNP gnomAD v4 |
| 15 | g.68335760G>C | CA490946300 | ITGA11 | c.1362C>G (p.Val454=) n.251C>G n.341C>G c.1056C>G (p.Val352=) c.1155C>G (p.Val385=) | |
| 15 | g.68335760G= | CA2184934344 | ITGA11 | c.1362C= (p.Val454=) n.251C= n.341C= c.1056C= (p.Val352=) c.1155C= (p.Val385=) | |
| 15 | g.68335760G>T | CA272443300 | ITGA11 | c.1362C>A (p.Val454=) n.251C>A n.341C>A c.1056C>A (p.Val352=) c.1155C>A (p.Val385=) | dbSNP gnomAD v4 |
| 15 | g.68335761A>C | CA392977794 | ITGA11 | c.1361T>G (p.Val454Gly) n.250T>G n.340T>G c.1055T>G (p.Val352Gly) c.1154T>G (p.Val385Gly) | |
| 15 | g.68335761A>G | CA392977795 | ITGA11 | c.1361T>C (p.Val454Ala) n.250T>C n.340T>C c.1055T>C (p.Val352Ala) c.1154T>C (p.Val385Ala) | |
| 15 | g.68335761A>T | CA392977793 | ITGA11 | c.1361T>A (p.Val454Asp) n.250T>A n.340T>A c.1055T>A (p.Val352Asp) c.1154T>A (p.Val385Asp) | |
| 15 | g.68335762C>A | CA7631853 | ITGA11 | c.1360G>T (p.Val454Phe) n.249G>T n.339G>T c.1054G>T (p.Val352Phe) c.1153G>T (p.Val385Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335762C= | CA2184934345 | ITGA11 | c.1360G= (p.Val454=) n.249G= n.339G= c.1054G= (p.Val352=) c.1153G= (p.Val385=) | |
| 15 | g.68335762C>G | CA392977796 | ITGA11 | c.1360G>C (p.Val454Leu) n.249G>C n.339G>C c.1054G>C (p.Val352Leu) c.1153G>C (p.Val385Leu) | |
| 15 | g.68335762C>T | CA392977797 | ITGA11 | c.1360G>A (p.Val454Ile) n.249G>A n.339G>A c.1054G>A (p.Val352Ile) c.1153G>A (p.Val385Ile) | |
| 15 | g.68335763C>A | CA392977798 | ITGA11 | c.1359G>T (p.Lys453Asn) n.248G>T n.338G>T c.1053G>T (p.Lys351Asn) c.1152G>T (p.Lys384Asn) | gnomAD v4 |
| 15 | g.68335763C>G | CA392977799 | ITGA11 | c.1359G>C (p.Lys453Asn) n.248G>C n.338G>C c.1053G>C (p.Lys351Asn) c.1152G>C (p.Lys384Asn) | gnomAD v4 |
| 15 | g.68335763C>T | CA490946301 | ITGA11 | c.1359G>A (p.Lys453=) n.248G>A n.338G>A c.1053G>A (p.Lys351=) c.1152G>A (p.Lys384=) | COSMIC |
| 15 | g.68335764T>A | CA392977802 | ITGA11 | c.1358A>T (p.Lys453Met) n.247A>T n.337A>T c.1052A>T (p.Lys351Met) c.1151A>T (p.Lys384Met) | |
| 15 | g.68335764T>C | CA392977801 | ITGA11 | c.1358A>G (p.Lys453Arg) n.247A>G n.337A>G c.1052A>G (p.Lys351Arg) c.1151A>G (p.Lys384Arg) | |
| 15 | g.68335764T>G | CA392977800 | ITGA11 | c.1358A>C (p.Lys453Thr) n.247A>C n.337A>C c.1052A>C (p.Lys351Thr) c.1151A>C (p.Lys384Thr) | |
| 15 | g.68335765T>A | CA392977803 | ITGA11 | c.1357A>T (p.Lys453Ter) n.246A>T n.336A>T c.1051A>T (p.Lys351Ter) c.1150A>T (p.Lys384Ter) | |
| 15 | g.68335765T>C | CA272443307 | ITGA11 | c.1357A>G (p.Lys453Glu) n.246A>G n.336A>G c.1051A>G (p.Lys351Glu) c.1150A>G (p.Lys384Glu) | dbSNP |
| 15 | g.68335765T>G | CA392977804 | ITGA11 | c.1357A>C (p.Lys453Gln) n.246A>C n.336A>C c.1051A>C (p.Lys351Gln) c.1150A>C (p.Lys384Gln) | |
| 15 | g.68335765T= | CA2184934346 | ITGA11 | c.1357A= (p.Lys453=) n.246A= n.336A= c.1051A= (p.Lys351=) c.1150A= (p.Lys384=) | |
| 15 | g.68335766G>A | CA490946302 | ITGA11 | c.1356C>T (p.Gly452=) n.245C>T n.335C>T c.1050C>T (p.Gly350=) c.1149C>T (p.Gly383=) | |
| 15 | g.68335766G>C | CA490946303 | ITGA11 | c.1356C>G (p.Gly452=) n.245C>G n.335C>G c.1050C>G (p.Gly350=) c.1149C>G (p.Gly383=) | |
| 15 | g.68335766G>T | CA490946304 | ITGA11 | c.1356C>A (p.Gly452=) n.245C>A n.335C>A c.1050C>A (p.Gly350=) c.1149C>A (p.Gly383=) | |
| 15 | g.68335767C>A | CA392977805 | ITGA11 | c.1355G>T (p.Gly452Val) n.244G>T n.334G>T c.1049G>T (p.Gly350Val) c.1148G>T (p.Gly383Val) | |
| 15 | g.68335767C>G | CA392977806 | ITGA11 | c.1355G>C (p.Gly452Ala) n.244G>C n.334G>C c.1049G>C (p.Gly350Ala) c.1148G>C (p.Gly383Ala) | |
| 15 | g.68335767C>T | CA392977807 | ITGA11 | c.1355G>A (p.Gly452Asp) n.244G>A n.334G>A c.1049G>A (p.Gly350Asp) c.1148G>A (p.Gly383Asp) | gnomAD v4 |
| 15 | g.68335768C>A | CA392977808 | ITGA11 | c.1354G>T (p.Gly452Cys) n.243G>T n.333G>T c.1048G>T (p.Gly350Cys) c.1147G>T (p.Gly383Cys) | |
| 15 | g.68335768C>G | CA392977810 | ITGA11 | c.1354G>C (p.Gly452Arg) n.243G>C n.333G>C c.1048G>C (p.Gly350Arg) c.1147G>C (p.Gly383Arg) | |
| 15 | g.68335768C>T | CA392977809 | ITGA11 | c.1354G>A (p.Gly452Ser) n.243G>A n.333G>A c.1048G>A (p.Gly350Ser) c.1147G>A (p.Gly383Ser) | |
| 15 | g.68335769C>A | CA490946306 | ITGA11 | c.1353G>T (p.Thr451=) n.242G>T n.332G>T c.1047G>T (p.Thr349=) c.1146G>T (p.Thr382=) | |
| 15 | g.68335769C= | CA2184934347 | ITGA11 | c.1353G= (p.Thr451=) n.242G= n.332G= c.1047G= (p.Thr349=) c.1146G= (p.Thr382=) | |
| 15 | g.68335769C>G | CA490946305 | ITGA11 | c.1353G>C (p.Thr451=) n.242G>C n.332G>C c.1047G>C (p.Thr349=) c.1146G>C (p.Thr382=) | |
| 15 | g.68335769C>T | CA7631854 | ITGA11 | c.1353G>A (p.Thr451=) n.242G>A n.332G>A c.1047G>A (p.Thr349=) c.1146G>A (p.Thr382=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335770G>A | CA7631855 | ITGA11 | c.1352C>T (p.Thr451Met) n.241C>T n.331C>T c.1046C>T (p.Thr349Met) c.1145C>T (p.Thr382Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.68335770G>C | CA392977811 | ITGA11 | c.1352C>G (p.Thr451Arg) n.241C>G n.331C>G c.1046C>G (p.Thr349Arg) c.1145C>G (p.Thr382Arg) | gnomAD v4 |
| 15 | g.68335770G= | CA2184934348 | ITGA11 | c.1352C= (p.Thr451=) n.241C= n.331C= c.1046C= (p.Thr349=) c.1145C= (p.Thr382=) | |
| 15 | g.68335770G>T | CA392977812 | ITGA11 | c.1352C>A (p.Thr451Lys) n.241C>A n.331C>A c.1046C>A (p.Thr349Lys) c.1145C>A (p.Thr382Lys) | |
| 15 | g.68335771T>A | CA392977813 | ITGA11 | c.1351A>T (p.Thr451Ser) n.240A>T n.330A>T c.1045A>T (p.Thr349Ser) c.1144A>T (p.Thr382Ser) | |
| 15 | g.68335771T>C | CA392977814 | ITGA11 | c.1351A>G (p.Thr451Ala) n.240A>G n.330A>G c.1045A>G (p.Thr349Ala) c.1144A>G (p.Thr382Ala) | |
| 15 | g.68335771T>G | CA392977815 | ITGA11 | c.1351A>C (p.Thr451Pro) n.240A>C n.330A>C c.1045A>C (p.Thr349Pro) c.1144A>C (p.Thr382Pro) | |
| 15 | g.68335772G>A | CA490946307 | ITGA11 | c.1350C>T (p.His450=) n.239C>T n.329C>T c.1044C>T (p.His348=) c.1143C>T (p.His381=) | gnomAD v4 |
| 15 | g.68335772G>C | CA392977816 | ITGA11 | c.1350C>G (p.His450Gln) n.239C>G n.329C>G c.1044C>G (p.His348Gln) c.1143C>G (p.His381Gln) | |
| 15 | g.68335772G= | CA2184934349 | ITGA11 | c.1350C= (p.His450=) n.239C= n.329C= c.1044C= (p.His348=) c.1143C= (p.His381=) | |
| 15 | g.68335772G>T | CA392977817 | ITGA11 | c.1350C>A (p.His450Gln) n.239C>A n.329C>A c.1044C>A (p.His348Gln) c.1143C>A (p.His381Gln) | dbSNP |
| 15 | g.68335773T>A | CA392977818 | ITGA11 | c.1349A>T (p.His450Leu) n.238A>T n.328A>T c.1043A>T (p.His348Leu) c.1142A>T (p.His381Leu) | |
| 15 | g.68335773T>C | CA392977819 | ITGA11 | c.1349A>G (p.His450Arg) n.238A>G n.328A>G c.1043A>G (p.His348Arg) c.1142A>G (p.His381Arg) | gnomAD v4 |
| 15 | g.68335773T>G | CA392977820 | ITGA11 | c.1349A>C (p.His450Pro) n.238A>C n.328A>C c.1043A>C (p.His348Pro) c.1142A>C (p.His381Pro) | |
| 15 | g.68335774G>A | CA392977823 | ITGA11 | c.1348C>T (p.His450Tyr) n.237C>T n.327C>T c.1042C>T (p.His348Tyr) c.1141C>T (p.His381Tyr) | dbSNP gnomAD v2 |
| 15 | g.68335774G>C | CA392977822 | ITGA11 | c.1348C>G (p.His450Asp) n.237C>G n.327C>G c.1042C>G (p.His348Asp) c.1141C>G (p.His381Asp) | |
| 15 | g.68335774G= | CA2184934350 | ITGA11 | c.1348C= (p.His450=) n.237C= n.327C= c.1042C= (p.His348=) c.1141C= (p.His381=) | |
| 15 | g.68335774G>T | CA392977821 | ITGA11 | c.1348C>A (p.His450Asn) n.237C>A n.327C>A c.1042C>A (p.His348Asn) c.1141C>A (p.His381Asn) | |
| 15 | g.68335775G>A | CA490946308 | ITGA11 | c.1347C>T (p.Asn449=) n.236C>T n.326C>T c.1041C>T (p.Asn347=) c.1140C>T (p.Asn380=) | |
| 15 | g.68335775G>C | CA392977824 | ITGA11 | c.1347C>G (p.Asn449Lys) n.236C>G n.326C>G c.1041C>G (p.Asn347Lys) c.1140C>G (p.Asn380Lys) | |
| 15 | g.68335775G>T | CA392977825 | ITGA11 | c.1347C>A (p.Asn449Lys) n.236C>A n.326C>A c.1041C>A (p.Asn347Lys) c.1140C>A (p.Asn380Lys) | gnomAD v4 |
| 15 | g.68335776T>A | CA392977826 | ITGA11 | c.1346A>T (p.Asn449Ile) n.235A>T n.325A>T c.1040A>T (p.Asn347Ile) c.1139A>T (p.Asn380Ile) | |
| 15 | g.68335776T>C | CA392977828 | ITGA11 | c.1346A>G (p.Asn449Ser) n.235A>G n.325A>G c.1040A>G (p.Asn347Ser) c.1139A>G (p.Asn380Ser) | |
| 15 | g.68335776T>G | CA392977827 | ITGA11 | c.1346A>C (p.Asn449Thr) n.235A>C n.325A>C c.1040A>C (p.Asn347Thr) c.1139A>C (p.Asn380Thr) | gnomAD v4 |
| 15 | g.68335777T>A | CA392977829 | ITGA11 | c.1345A>T (p.Asn449Tyr) n.234A>T n.324A>T c.1039A>T (p.Asn347Tyr) c.1138A>T (p.Asn380Tyr) | |
| 15 | g.68335777T>C | CA392977831 | ITGA11 | c.1345A>G (p.Asn449Asp) n.234A>G n.324A>G c.1039A>G (p.Asn347Asp) c.1138A>G (p.Asn380Asp) | |
| 15 | g.68335777T>G | CA392977830 | ITGA11 | c.1345A>C (p.Asn449His) n.234A>C n.324A>C c.1039A>C (p.Asn347His) c.1138A>C (p.Asn380His) | |
| 15 | g.68335778G>A | CA490946309 | ITGA11 | c.1344C>T (p.Phe448=) n.233C>T n.323C>T c.1038C>T (p.Phe346=) c.1137C>T (p.Phe379=) | |
| 15 | g.68335778G>C | CA392977832 | ITGA11 | c.1344C>G (p.Phe448Leu) n.233C>G n.323C>G c.1038C>G (p.Phe346Leu) c.1137C>G (p.Phe379Leu) | |
| 15 | g.68335778G= | CA2184934351 | ITGA11 | c.1344C= (p.Phe448=) n.233C= n.323C= c.1038C= (p.Phe346=) c.1137C= (p.Phe379=) | |
| 15 | g.68335778G>T | CA7631856 | ITGA11 | c.1344C>A (p.Phe448Leu) n.233C>A n.323C>A c.1038C>A (p.Phe346Leu) c.1137C>A (p.Phe379Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.68335779A= | CA2184934352 | ITGA11 | c.1343T= (p.Phe448=) n.232T= n.322T= c.1037T= (p.Phe346=) c.1136T= (p.Phe379=) | |
| 15 | g.68335779A>C | CA392977833 | ITGA11 | c.1343T>G (p.Phe448Cys) n.232T>G n.322T>G c.1037T>G (p.Phe346Cys) c.1136T>G (p.Phe379Cys) | |
| 15 | g.68335779A>G | CA392977834 | ITGA11 | c.1343T>C (p.Phe448Ser) n.232T>C n.322T>C c.1037T>C (p.Phe346Ser) c.1136T>C (p.Phe379Ser) | |
| 15 | g.68335779A>T | CA7631857 | ITGA11 | c.1343T>A (p.Phe448Tyr) n.232T>A n.322T>A c.1037T>A (p.Phe346Tyr) c.1136T>A (p.Phe379Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.68335780A= | CA2184934353 | ITGA11 | c.1342T= (p.Phe448=) n.231T= n.321T= c.1036T= (p.Phe346=) c.1135T= (p.Phe379=) | |
| 15 | g.68335780A>C | CA392977835 | ITGA11 | c.1342T>G (p.Phe448Val) n.231T>G n.321T>G c.1036T>G (p.Phe346Val) c.1135T>G (p.Phe379Val) | dbSNP |
| 15 | g.68335780A>G | CA392977836 | ITGA11 | c.1342T>C (p.Phe448Leu) n.231T>C n.321T>C c.1036T>C (p.Phe346Leu) c.1135T>C (p.Phe379Leu) | |
| 15 | g.68335780A>T | CA392977837 | ITGA11 | c.1342T>A (p.Phe448Ile) n.231T>A n.321T>A c.1036T>A (p.Phe346Ile) c.1135T>A (p.Phe379Ile) | |
| 15 | g.68335780_68335807delinsACCGGGGGGCTCCGGCCACGTACACCCG | CA2184934354 | ITGA11 | c.1315_1342delinsCGGGTGTACGTGGCCGGAGCCCCCCGGT (p.Arg439=) n.204_231delinsCGGGTGTACGTGGCCGGAGCCCCCCGGT n.294_321delinsCGGGTGTACGTGGCCGGAGCCCCCCGGT c.1009_1036delinsCGGGTGTACGTGGCCGGAGCCCCCCGGT (p.Arg337=) c.1108_1135delinsCGGGTGTACGTGGCCGGAGCCCCCCGGT (p.Arg370=) | |
| 15 | g.68335781C>A | CA490946310 | ITGA11 | c.1341G>T (p.Arg447=) n.230G>T n.320G>T c.1035G>T (p.Arg345=) c.1134G>T (p.Arg378=) | |
| 15 | g.68335781C>G | CA490946312 | ITGA11 | c.1341G>C (p.Arg447=) n.230G>C n.320G>C c.1035G>C (p.Arg345=) c.1134G>C (p.Arg378=) | |
| 15 | g.68335781C>T | CA490946311 | ITGA11 | c.1341G>A (p.Arg447=) n.230G>A n.320G>A c.1035G>A (p.Arg345=) c.1134G>A (p.Arg378=) | |
| 15 | g.68335783_68335809del | CA971061960 | ITGA11 | c.1315_1341del (p.Arg439_Arg447del) n.204_230del n.294_320del c.1009_1035del (p.Arg337_Arg345del) c.1108_1134del (p.Arg370_Arg378del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.68335782C>A | CA392977838 | ITGA11 | c.1340G>T (p.Arg447Leu) n.229G>T n.319G>T c.1034G>T (p.Arg345Leu) c.1133G>T (p.Arg378Leu) | |
| 15 | g.68335782C= | CA2184934355 | ITGA11 | c.1340G= (p.Arg447=) n.229G= n.319G= c.1034G= (p.Arg345=) c.1133G= (p.Arg378=) | |
| 15 | g.68335782C>G | CA392977839 | ITGA11 | c.1340G>C (p.Arg447Pro) n.229G>C n.319G>C c.1034G>C (p.Arg345Pro) c.1133G>C (p.Arg378Pro) | |
| 15 | g.68335782C>T | CA7631858 | ITGA11 | c.1340G>A (p.Arg447Gln) n.229G>A n.319G>A c.1034G>A (p.Arg345Gln) c.1133G>A (p.Arg378Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335783G>A | CA7631859 | ITGA11 | c.1339C>T (p.Arg447Trp) n.228C>T n.318C>T c.1033C>T (p.Arg345Trp) c.1132C>T (p.Arg378Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335783G>C | CA392977840 | ITGA11 | c.1339C>G (p.Arg447Gly) n.228C>G n.318C>G c.1033C>G (p.Arg345Gly) c.1132C>G (p.Arg378Gly) | |
| 15 | g.68335783G= | CA2184934356 | ITGA11 | c.1339C= (p.Arg447=) n.228C= n.318C= c.1033C= (p.Arg345=) c.1132C= (p.Arg378=) | |
| 15 | g.68335783G>T | CA490946313 | ITGA11 | c.1339C>A (p.Arg447=) n.228C>A n.318C>A c.1033C>A (p.Arg345=) c.1132C>A (p.Arg378=) | |
| 15 | g.68335788dup | CA2575772203 | ITGA11 | c.1339dup (p.Arg447ProfsTer?) n.228dup n.318dup c.1033dup (p.Arg345ProfsTer?) c.1132dup (p.Arg378ProfsTer?) | gnomAD v4 |
| 15 | g.68335787_68335788dup | CA2804596027 | ITGA11 | c.1338_1339dup (p.Arg447ProfsTer31) n.227_228dup n.317_318dup c.1032_1033dup (p.Arg345ProfsTer31) c.1131_1132dup (p.Arg378ProfsTer31) | |
| 15 | g.68335788del | CA2575772202 | ITGA11 | c.1339del (p.Arg447GlyfsTer30) n.228del n.318del c.1033del (p.Arg345GlyfsTer30) c.1132del (p.Arg378GlyfsTer30) | gnomAD v4 |
| 15 | g.68335784G>A | CA490946314 | ITGA11 | c.1338C>T (p.Pro446=) n.227C>T n.317C>T c.1032C>T (p.Pro344=) c.1131C>T (p.Pro377=) | dbSNP |
| 15 | g.68335784G>C | CA490946315 | ITGA11 | c.1338C>G (p.Pro446=) n.227C>G n.317C>G c.1032C>G (p.Pro344=) c.1131C>G (p.Pro377=) | |
| 15 | g.68335784G>T | CA490946316 | ITGA11 | c.1338C>A (p.Pro446=) n.227C>A n.317C>A c.1032C>A (p.Pro344=) c.1131C>A (p.Pro377=) | |
| 15 | g.68335785G>A | CA392977841 | ITGA11 | c.1337C>T (p.Pro446Leu) n.226C>T n.316C>T c.1031C>T (p.Pro344Leu) c.1130C>T (p.Pro377Leu) | |
| 15 | g.68335785G>C | CA392977843 | ITGA11 | c.1337C>G (p.Pro446Arg) n.226C>G n.316C>G c.1031C>G (p.Pro344Arg) c.1130C>G (p.Pro377Arg) | |
| 15 | g.68335785G>T | CA392977842 | ITGA11 | c.1337C>A (p.Pro446His) n.226C>A n.316C>A c.1031C>A (p.Pro344His) c.1130C>A (p.Pro377His) | |
| 15 | g.68335786G>A | CA392977844 | ITGA11 | c.1336C>T (p.Pro446Ser) n.225C>T n.315C>T c.1030C>T (p.Pro344Ser) c.1129C>T (p.Pro377Ser) | |
| 15 | g.68335786G>C | CA392977845 | ITGA11 | c.1336C>G (p.Pro446Ala) n.225C>G n.315C>G c.1030C>G (p.Pro344Ala) c.1129C>G (p.Pro377Ala) | |
| 15 | g.68335786G>T | CA392977846 | ITGA11 | c.1336C>A (p.Pro446Thr) n.225C>A n.315C>A c.1030C>A (p.Pro344Thr) c.1129C>A (p.Pro377Thr) | |
| 15 | g.68335787G>A | CA490946317 | ITGA11 | c.1335C>T (p.Ala445=) n.224C>T n.314C>T c.1029C>T (p.Ala343=) c.1128C>T (p.Ala376=) | |
| 15 | g.68335787G>C | CA490946319 | ITGA11 | c.1335C>G (p.Ala445=) n.224C>G n.314C>G c.1029C>G (p.Ala343=) c.1128C>G (p.Ala376=) | |
| 15 | g.68335787G= | CA2184934357 | ITGA11 | c.1335C= (p.Ala445=) n.224C= n.314C= c.1029C= (p.Ala343=) c.1128C= (p.Ala376=) | |
| 15 | g.68335787G>T | CA490946318 | ITGA11 | c.1335C>A (p.Ala445=) n.224C>A n.314C>A c.1029C>A (p.Ala343=) c.1128C>A (p.Ala376=) | gnomAD v4 |
| 15 | g.68335787_68335788insC | CA618703911 | ITGA11 | c.1334_1335insG (p.Arg447ProfsTer?) n.223_224insG n.313_314insG c.1028_1029insG (p.Arg345ProfsTer?) c.1127_1128insG (p.Arg378ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335788G>A | CA392977847 | ITGA11 | c.1334C>T (p.Ala445Val) n.223C>T n.313C>T c.1028C>T (p.Ala343Val) c.1127C>T (p.Ala376Val) | |
| 15 | g.68335788G>C | CA392977848 | ITGA11 | c.1334C>G (p.Ala445Gly) n.223C>G n.313C>G c.1028C>G (p.Ala343Gly) c.1127C>G (p.Ala376Gly) | |
| 15 | g.68335788G>T | CA392977849 | ITGA11 | c.1334C>A (p.Ala445Asp) n.223C>A n.313C>A c.1028C>A (p.Ala343Asp) c.1127C>A (p.Ala376Asp) | |
| 15 | g.68335789C>A | CA392977850 | ITGA11 | c.1333G>T (p.Ala445Ser) n.222G>T n.312G>T c.1027G>T (p.Ala343Ser) c.1126G>T (p.Ala376Ser) | |
| 15 | g.68335789C= | CA2184934358 | ITGA11 | c.1333G= (p.Ala445=) n.222G= n.312G= c.1027G= (p.Ala343=) c.1126G= (p.Ala376=) | |
| 15 | g.68335789C>G | CA392977851 | ITGA11 | c.1333G>C (p.Ala445Pro) n.222G>C n.312G>C c.1027G>C (p.Ala343Pro) c.1126G>C (p.Ala376Pro) | |
| 15 | g.68335789C>T | CA392977852 | ITGA11 | c.1333G>A (p.Ala445Thr) n.222G>A n.312G>A c.1027G>A (p.Ala343Thr) c.1126G>A (p.Ala376Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335790T>A | CA490946320 | ITGA11 | c.1332A>T (p.Gly444=) n.221A>T n.311A>T c.1026A>T (p.Gly342=) c.1125A>T (p.Gly375=) | |
| 15 | g.68335790T>C | CA490946321 | ITGA11 | c.1332A>G (p.Gly444=) n.221A>G n.311A>G c.1026A>G (p.Gly342=) c.1125A>G (p.Gly375=) | |
| 15 | g.68335790T>G | CA490946322 | ITGA11 | c.1332A>C (p.Gly444=) n.221A>C n.311A>C c.1026A>C (p.Gly342=) c.1125A>C (p.Gly375=) | |
| 15 | g.68335791C>A | CA392977855 | ITGA11 | c.1331G>T (p.Gly444Val) n.220G>T n.310G>T c.1025G>T (p.Gly342Val) c.1124G>T (p.Gly375Val) | |
| 15 | g.68335791C>G | CA392977854 | ITGA11 | c.1331G>C (p.Gly444Ala) n.220G>C n.310G>C c.1025G>C (p.Gly342Ala) c.1124G>C (p.Gly375Ala) | |
| 15 | g.68335791C>T | CA392977853 | ITGA11 | c.1331G>A (p.Gly444Glu) n.220G>A n.310G>A c.1025G>A (p.Gly342Glu) c.1124G>A (p.Gly375Glu) | |
| 15 | g.68335792C>A | CA392977856 | ITGA11 | c.1330G>T (p.Gly444Ter) n.219G>T n.309G>T c.1024G>T (p.Gly342Ter) c.1123G>T (p.Gly375Ter) | |
| 15 | g.68335792C= | CA2184934359 | ITGA11 | c.1330G= (p.Gly444=) n.219G= n.309G= c.1024G= (p.Gly342=) c.1123G= (p.Gly375=) | |
| 15 | g.68335792C>G | CA392977857 | ITGA11 | c.1330G>C (p.Gly444Arg) n.219G>C n.309G>C c.1024G>C (p.Gly342Arg) c.1123G>C (p.Gly375Arg) | gnomAD v4 |
| 15 | g.68335792C>T | CA7631860 | ITGA11 | c.1330G>A (p.Gly444Arg) n.219G>A n.309G>A c.1024G>A (p.Gly342Arg) c.1123G>A (p.Gly375Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335793G>A | CA490946323 | ITGA11 | c.1329C>T (p.Ala443=) n.218C>T n.308C>T c.1023C>T (p.Ala341=) c.1122C>T (p.Ala374=) | dbSNP gnomAD v4 |
| 15 | g.68335793G>C | CA490946324 | ITGA11 | c.1329C>G (p.Ala443=) n.218C>G n.308C>G c.1023C>G (p.Ala341=) c.1122C>G (p.Ala374=) | |
| 15 | g.68335793G= | CA2184934360 | ITGA11 | c.1329C= (p.Ala443=) n.218C= n.308C= c.1023C= (p.Ala341=) c.1122C= (p.Ala374=) | |
| 15 | g.68335793G>T | CA490946325 | ITGA11 | c.1329C>A (p.Ala443=) n.218C>A n.308C>A c.1023C>A (p.Ala341=) c.1122C>A (p.Ala374=) | |
| 15 | g.68335794G>A | CA392977858 | ITGA11 | c.1328C>T (p.Ala443Val) n.217C>T n.307C>T c.1022C>T (p.Ala341Val) c.1121C>T (p.Ala374Val) | gnomAD v4 |
| 15 | g.68335794G>C | CA392977859 | ITGA11 | c.1328C>G (p.Ala443Gly) n.217C>G n.307C>G c.1022C>G (p.Ala341Gly) c.1121C>G (p.Ala374Gly) | |
| 15 | g.68335794G>T | CA392977860 | ITGA11 | c.1328C>A (p.Ala443Asp) n.217C>A n.307C>A c.1022C>A (p.Ala341Asp) c.1121C>A (p.Ala374Asp) | gnomAD v4 |
| 15 | g.68335795C>A | CA392977861 | ITGA11 | c.1327G>T (p.Ala443Ser) n.216G>T n.306G>T c.1021G>T (p.Ala341Ser) c.1120G>T (p.Ala374Ser) | |
| 15 | g.68335795C= | CA2184934361 | ITGA11 | c.1327G= (p.Ala443=) n.216G= n.306G= c.1021G= (p.Ala341=) c.1120G= (p.Ala374=) | |
| 15 | g.68335795C>G | CA392977862 | ITGA11 | c.1327G>C (p.Ala443Pro) n.216G>C n.306G>C c.1021G>C (p.Ala341Pro) c.1120G>C (p.Ala374Pro) | gnomAD v4 |
| 15 | g.68335795C>T | CA392977863 | ITGA11 | c.1327G>A (p.Ala443Thr) n.216G>A n.306G>A c.1021G>A (p.Ala341Thr) c.1120G>A (p.Ala374Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335796C>A | CA490946326 | ITGA11 | c.1326G>T (p.Val442=) n.215G>T n.305G>T c.1020G>T (p.Val340=) c.1119G>T (p.Val373=) | |
| 15 | g.68335796C>G | CA490946327 | ITGA11 | c.1326G>C (p.Val442=) n.215G>C n.305G>C c.1020G>C (p.Val340=) c.1119G>C (p.Val373=) | |
| 15 | g.68335796C>T | CA490946328 | ITGA11 | c.1326G>A (p.Val442=) n.215G>A n.305G>A c.1020G>A (p.Val340=) c.1119G>A (p.Val373=) | |
| 15 | g.68335797A>C | CA392977864 | ITGA11 | c.1325T>G (p.Val442Gly) n.214T>G n.304T>G c.1019T>G (p.Val340Gly) c.1118T>G (p.Val373Gly) | |
| 15 | g.68335797A>G | CA392977865 | ITGA11 | c.1325T>C (p.Val442Ala) n.214T>C n.304T>C c.1019T>C (p.Val340Ala) c.1118T>C (p.Val373Ala) | |
| 15 | g.68335797A>T | CA392977866 | ITGA11 | c.1325T>A (p.Val442Glu) n.214T>A n.304T>A c.1019T>A (p.Val340Glu) c.1118T>A (p.Val373Glu) | gnomAD v4 |
| 15 | g.68335798C>A | CA392977868 | ITGA11 | c.1324G>T (p.Val442Leu) n.213G>T n.303G>T c.1018G>T (p.Val340Leu) c.1117G>T (p.Val373Leu) | |
| 15 | g.68335798C= | CA2184934362 | ITGA11 | c.1324G= (p.Val442=) n.213G= n.303G= c.1018G= (p.Val340=) c.1117G= (p.Val373=) | |
| 15 | g.68335798C>G | CA392977867 | ITGA11 | c.1324G>C (p.Val442Leu) n.213G>C n.303G>C c.1018G>C (p.Val340Leu) c.1117G>C (p.Val373Leu) | |
| 15 | g.68335798C>T | CA7631861 | ITGA11 | c.1324G>A (p.Val442Met) n.213G>A n.303G>A c.1018G>A (p.Val340Met) c.1117G>A (p.Val373Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.68335799G>A | CA7631862 | ITGA11 | c.1323C>T (p.Tyr441=) n.212C>T n.302C>T c.1017C>T (p.Tyr339=) c.1116C>T (p.Tyr372=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335799G>C | CA392977869 | ITGA11 | c.1323C>G (p.Tyr441Ter) n.212C>G n.302C>G c.1017C>G (p.Tyr339Ter) c.1116C>G (p.Tyr372Ter) | |
| 15 | g.68335799G= | CA2184934363 | ITGA11 | c.1323C= (p.Tyr441=) n.212C= n.302C= c.1017C= (p.Tyr339=) c.1116C= (p.Tyr372=) | |
| 15 | g.68335799G>T | CA392977870 | ITGA11 | c.1323C>A (p.Tyr441Ter) n.212C>A n.302C>A c.1017C>A (p.Tyr339Ter) c.1116C>A (p.Tyr372Ter) | |
| 15 | g.68335800T>A | CA392977871 | ITGA11 | c.1322A>T (p.Tyr441Phe) n.211A>T n.301A>T c.1016A>T (p.Tyr339Phe) c.1115A>T (p.Tyr372Phe) | dbSNP |
| 15 | g.68335800T>C | CA392977872 | ITGA11 | c.1322A>G (p.Tyr441Cys) n.211A>G n.301A>G c.1016A>G (p.Tyr339Cys) c.1115A>G (p.Tyr372Cys) | |
| 15 | g.68335800T>G | CA392977873 | ITGA11 | c.1322A>C (p.Tyr441Ser) n.211A>C n.301A>C c.1016A>C (p.Tyr339Ser) c.1115A>C (p.Tyr372Ser) | |
| 15 | g.68335800T= | CA2184934364 | ITGA11 | c.1322A= (p.Tyr441=) n.211A= n.301A= c.1016A= (p.Tyr339=) c.1115A= (p.Tyr372=) | |
| 15 | g.68335801A>C | CA392977874 | ITGA11 | c.1321T>G (p.Tyr441Asp) n.210T>G n.300T>G c.1015T>G (p.Tyr339Asp) c.1114T>G (p.Tyr372Asp) | |
| 15 | g.68335801A>G | CA392977875 | ITGA11 | c.1321T>C (p.Tyr441His) n.210T>C n.300T>C c.1015T>C (p.Tyr339His) c.1114T>C (p.Tyr372His) | |
| 15 | g.68335801A>T | CA392977876 | ITGA11 | c.1321T>A (p.Tyr441Asn) n.210T>A n.300T>A c.1015T>A (p.Tyr339Asn) c.1114T>A (p.Tyr372Asn) | |
| 15 | g.68335802C>A | CA490946329 | ITGA11 | c.1320G>T (p.Val440=) n.209G>T n.299G>T c.1014G>T (p.Val338=) c.1113G>T (p.Val371=) | COSMIC |
| 15 | g.68335802C>G | CA490946330 | ITGA11 | c.1320G>C (p.Val440=) n.209G>C n.299G>C c.1014G>C (p.Val338=) c.1113G>C (p.Val371=) | |
| 15 | g.68335802C>T | CA490946331 | ITGA11 | c.1320G>A (p.Val440=) n.209G>A n.299G>A c.1014G>A (p.Val338=) c.1113G>A (p.Val371=) | gnomAD v4 |
| 15 | g.68335803A= | CA2184934365 | ITGA11 | c.1319T= (p.Val440=) n.208T= n.298T= c.1013T= (p.Val338=) c.1112T= (p.Val371=) | |
| 15 | g.68335803A>C | CA7631863 | ITGA11 | c.1319T>G (p.Val440Gly) n.208T>G n.298T>G c.1013T>G (p.Val338Gly) c.1112T>G (p.Val371Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.68335803A>G | CA7631864 | ITGA11 | c.1319T>C (p.Val440Ala) n.208T>C n.298T>C c.1013T>C (p.Val338Ala) c.1112T>C (p.Val371Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.68335803A>T | CA392977877 | ITGA11 | c.1319T>A (p.Val440Glu) n.208T>A n.298T>A c.1013T>A (p.Val338Glu) c.1112T>A (p.Val371Glu) | |
| 15 | g.68335804C>A | CA392977880 | ITGA11 | c.1318G>T (p.Val440Leu) n.207G>T n.297G>T c.1012G>T (p.Val338Leu) c.1111G>T (p.Val371Leu) | dbSNP |
| 15 | g.68335804C= | CA2184934366 | ITGA11 | c.1318G= (p.Val440=) n.207G= n.297G= c.1012G= (p.Val338=) c.1111G= (p.Val371=) | |
| 15 | g.68335804C>G | CA392977879 | ITGA11 | c.1318G>C (p.Val440Leu) n.207G>C n.297G>C c.1012G>C (p.Val338Leu) c.1111G>C (p.Val371Leu) | |
| 15 | g.68335804C>T | CA392977878 | ITGA11 | c.1318G>A (p.Val440Met) n.207G>A n.297G>A c.1012G>A (p.Val338Met) c.1111G>A (p.Val371Met) | |
| 15 | g.68335805C>A | CA490946332 | ITGA11 | c.1317G>T (p.Arg439=) n.206G>T n.296G>T c.1011G>T (p.Arg337=) c.1110G>T (p.Arg370=) | |
| 15 | g.68335805C= | CA2184934367 | ITGA11 | c.1317G= (p.Arg439=) n.206G= n.296G= c.1011G= (p.Arg337=) c.1110G= (p.Arg370=) | |
| 15 | g.68335805C>G | CA490946333 | ITGA11 | c.1317G>C (p.Arg439=) n.206G>C n.296G>C c.1011G>C (p.Arg337=) c.1110G>C (p.Arg370=) | |
| 15 | g.68335805C>T | CA7631865 | ITGA11 | c.1317G>A (p.Arg439=) n.206G>A n.296G>A c.1011G>A (p.Arg337=) c.1110G>A (p.Arg370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335806C>A | CA392977882 | ITGA11 | c.1316G>T (p.Arg439Leu) n.205G>T n.295G>T c.1010G>T (p.Arg337Leu) c.1109G>T (p.Arg370Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335806C= | CA2184934368 | ITGA11 | c.1316G= (p.Arg439=) n.205G= n.295G= c.1010G= (p.Arg337=) c.1109G= (p.Arg370=) | |
| 15 | g.68335806C>G | CA392977881 | ITGA11 | c.1316G>C (p.Arg439Pro) n.205G>C n.295G>C c.1010G>C (p.Arg337Pro) c.1109G>C (p.Arg370Pro) | gnomAD v4 |
| 15 | g.68335806C>T | CA7631866 | ITGA11 | c.1316G>A (p.Arg439Gln) n.205G>A n.295G>A c.1010G>A (p.Arg337Gln) c.1109G>A (p.Arg370Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.68335807G>A | CA7631867 | ITGA11 | c.1315C>T (p.Arg439Trp) n.204C>T n.294C>T c.1009C>T (p.Arg337Trp) c.1108C>T (p.Arg370Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335807G>C | CA392977883 | ITGA11 | c.1315C>G (p.Arg439Gly) n.204C>G n.294C>G c.1009C>G (p.Arg337Gly) c.1108C>G (p.Arg370Gly) | |
| 15 | g.68335807G= | CA2184934369 | ITGA11 | c.1315C= (p.Arg439=) n.204C= n.294C= c.1009C= (p.Arg337=) c.1108C= (p.Arg370=) | |
| 15 | g.68335807G>T | CA490946334 | ITGA11 | c.1315C>A (p.Arg439=) n.204C>A n.294C>A c.1009C>A (p.Arg337=) c.1108C>A (p.Arg370=) | |
| 15 | g.68335808C>A | CA490946335 | ITGA11 | c.1314G>T (p.Gly438=) n.203G>T n.293G>T c.1008G>T (p.Gly336=) c.1107G>T (p.Gly369=) | gnomAD v4 |
| 15 | g.68335808C>G | CA490946336 | ITGA11 | c.1314G>C (p.Gly438=) n.203G>C n.293G>C c.1008G>C (p.Gly336=) c.1107G>C (p.Gly369=) | |
| 15 | g.68335808C>T | CA490946337 | ITGA11 | c.1314G>A (p.Gly438=) n.203G>A n.293G>A c.1008G>A (p.Gly336=) c.1107G>A (p.Gly369=) | gnomAD v4 |
| 15 | g.68335809C>A | CA392977884 | ITGA11 | c.1313G>T (p.Gly438Val) n.202G>T n.292G>T c.1007G>T (p.Gly336Val) c.1106G>T (p.Gly369Val) | |
| 15 | g.68335809C= | CA2184934370 | ITGA11 | c.1313G= (p.Gly438=) n.202G= n.292G= c.1007G= (p.Gly336=) c.1106G= (p.Gly369=) | |
| 15 | g.68335809C>G | CA392977885 | ITGA11 | c.1313G>C (p.Gly438Ala) n.202G>C n.292G>C c.1007G>C (p.Gly336Ala) c.1106G>C (p.Gly369Ala) | |
| 15 | g.68335809C>T | CA392977886 | ITGA11 | c.1313G>A (p.Gly438Glu) n.202G>A n.292G>A c.1007G>A (p.Gly336Glu) c.1106G>A (p.Gly369Glu) | dbSNP gnomAD v2 |
| 15 | g.68335810C>A | CA392977887 | ITGA11 | c.1312G>T (p.Gly438Trp) n.201G>T n.291G>T c.1006G>T (p.Gly336Trp) c.1105G>T (p.Gly369Trp) | |
| 15 | g.68335810C>G | CA392977888 | ITGA11 | c.1312G>C (p.Gly438Arg) n.201G>C n.291G>C c.1006G>C (p.Gly336Arg) c.1105G>C (p.Gly369Arg) | |
| 15 | g.68335810C>T | CA392977889 | ITGA11 | c.1312G>A (p.Gly438Arg) n.201G>A n.291G>A c.1006G>A (p.Gly336Arg) c.1105G>A (p.Gly369Arg) | |
| 15 | g.68335811C>A | CA392977890 | ITGA11 | c.1311G>T (p.Gln437His) n.200G>T n.290G>T c.1005G>T (p.Gln335His) c.1104G>T (p.Gln368His) | |
| 15 | g.68335811C>G | CA392977891 | ITGA11 | c.1311G>C (p.Gln437His) n.200G>C n.290G>C c.1005G>C (p.Gln335His) c.1104G>C (p.Gln368His) | |
| 15 | g.68335811C>T | CA490946338 | ITGA11 | c.1311G>A (p.Gln437=) n.200G>A n.290G>A c.1005G>A (p.Gln335=) c.1104G>A (p.Gln368=) | gnomAD v4 |
| 15 | g.68335812T>A | CA392977894 | ITGA11 | c.1310A>T (p.Gln437Leu) n.199A>T n.289A>T c.1004A>T (p.Gln335Leu) c.1103A>T (p.Gln368Leu) | |
| 15 | g.68335812T>C | CA392977892 | ITGA11 | c.1310A>G (p.Gln437Arg) n.199A>G n.289A>G c.1004A>G (p.Gln335Arg) c.1103A>G (p.Gln368Arg) | |
| 15 | g.68335812T>G | CA392977893 | ITGA11 | c.1310A>C (p.Gln437Pro) n.199A>C n.289A>C c.1004A>C (p.Gln335Pro) c.1103A>C (p.Gln368Pro) | |
| 15 | g.68335813G>A | CA392977895 | ITGA11 | c.1309C>T (p.Gln437Ter) n.198C>T n.288C>T c.1003C>T (p.Gln335Ter) c.1102C>T (p.Gln368Ter) | |
| 15 | g.68335813G>C | CA392977896 | ITGA11 | c.1309C>G (p.Gln437Glu) n.198C>G n.288C>G c.1003C>G (p.Gln335Glu) c.1102C>G (p.Gln368Glu) | |
| 15 | g.68335813G>T | CA392977897 | ITGA11 | c.1309C>A (p.Gln437Lys) n.198C>A n.288C>A c.1003C>A (p.Gln335Lys) c.1102C>A (p.Gln368Lys) | |
| 15 | g.68335814C>A | CA392977898 | ITGA11 | c.1308G>T (p.Arg436Ser) n.197G>T n.287G>T c.1002G>T (p.Arg334Ser) c.1101G>T (p.Arg367Ser) | |
| 15 | g.68335814C= | CA2184934371 | ITGA11 | c.1308G= (p.Arg436=) n.197G= n.287G= c.1002G= (p.Arg334=) c.1101G= (p.Arg367=) | |
| 15 | g.68335814C>G | CA392977899 | ITGA11 | c.1308G>C (p.Arg436Ser) n.197G>C n.287G>C c.1002G>C (p.Arg334Ser) c.1101G>C (p.Arg367Ser) | |
| 15 | g.68335814C>T | CA7631868 | ITGA11 | c.1308G>A (p.Arg436=) n.197G>A n.287G>A c.1002G>A (p.Arg334=) c.1101G>A (p.Arg367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335815C>A | CA392977900 | ITGA11 | c.1307G>T (p.Arg436Met) n.197-1G>T n.286G>T c.1001G>T (p.Arg334Met) c.1100G>T (p.Arg367Met) | |
| 15 | g.68335815C= | CA2184934372 | ITGA11 | c.1307G= (p.Arg436=) n.197-1G= n.286G= c.1001G= (p.Arg334=) c.1100G= (p.Arg367=) | |
| 15 | g.68335815C>G | CA392977901 | ITGA11 | c.1307G>C (p.Arg436Thr) n.197-1G>C n.286G>C c.1001G>C (p.Arg334Thr) c.1100G>C (p.Arg367Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335815C>T | CA392977902 | ITGA11 | c.1307G>A (p.Arg436Lys) n.197-1G>A n.286G>A c.1001G>A (p.Arg334Lys) c.1100G>A (p.Arg367Lys) | |
| 15 | g.68335816T>A | CA392977903 | ITGA11 | c.1306A>T (p.Arg436Trp) n.197-2A>T n.285A>T c.1000A>T (p.Arg334Trp) c.1099A>T (p.Arg367Trp) | |
| 15 | g.68335816T>C | CA392977904 | ITGA11 | c.1306A>G (p.Arg436Gly) n.197-2A>G n.285A>G c.1000A>G (p.Arg334Gly) c.1099A>G (p.Arg367Gly) | |
| 15 | g.68335816T>G | CA490946340 | ITGA11 | c.1306A>C (p.Arg436=) n.197-2A>C n.285A>C c.1000A>C (p.Arg334=) c.1099A>C (p.Arg367=) | |
| 15 | g.68335817G>A | CA490946341 | ITGA11 | c.1305C>T (p.Ser435=) n.197-3C>T n.284C>T c.999C>T (p.Ser333=) c.1098C>T (p.Ser366=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335817G>C | CA490946342 | ITGA11 | c.1305C>G (p.Ser435=) n.197-3C>G n.284C>G c.999C>G (p.Ser333=) c.1098C>G (p.Ser366=) | |
| 15 | g.68335817G= | CA2184934373 | ITGA11 | c.1305C= (p.Ser435=) n.197-3C= n.284C= c.999C= (p.Ser333=) c.1098C= (p.Ser366=) | |
| 15 | g.68335817G>T | CA490946343 | ITGA11 | c.1305C>A (p.Ser435=) n.197-3C>A n.284C>A c.999C>A (p.Ser333=) c.1098C>A (p.Ser366=) | |
| 15 | g.68335818G>A | CA392977906 | ITGA11 | c.1304C>T (p.Ser435Phe) n.197-4C>T n.283C>T c.998C>T (p.Ser333Phe) c.1097C>T (p.Ser366Phe) | |
| 15 | g.68335818G>C | CA392977907 | ITGA11 | c.1304C>G (p.Ser435Cys) n.197-4C>G n.283C>G c.998C>G (p.Ser333Cys) c.1097C>G (p.Ser366Cys) | |
| 15 | g.68335818G>T | CA392977905 | ITGA11 | c.1304C>A (p.Ser435Tyr) n.197-4C>A n.283C>A c.998C>A (p.Ser333Tyr) c.1097C>A (p.Ser366Tyr) | |
| 15 | g.68335819A>C | CA392977908 | ITGA11 | c.1303T>G (p.Ser435Ala) n.197-5T>G n.282T>G c.997T>G (p.Ser333Ala) c.1096T>G (p.Ser366Ala) | |
| 15 | g.68335819A>G | CA392977909 | ITGA11 | c.1303T>C (p.Ser435Pro) n.197-5T>C n.282T>C c.997T>C (p.Ser333Pro) c.1096T>C (p.Ser366Pro) | gnomAD v4 |
| 15 | g.68335819A>T | CA392977910 | ITGA11 | c.1303T>A (p.Ser435Thr) n.197-5T>A n.282T>A c.997T>A (p.Ser333Thr) c.1096T>A (p.Ser366Thr) | |
| 15 | g.68335820G>A | CA490946344 | ITGA11 | c.1302C>T (p.Ser434=) n.197-6C>T n.281C>T c.996C>T (p.Ser332=) c.1095C>T (p.Ser365=) | |
| 15 | g.68335820G>C | CA490946345 | ITGA11 | c.1302C>G (p.Ser434=) n.197-6C>G n.281C>G c.996C>G (p.Ser332=) c.1095C>G (p.Ser365=) | |
| 15 | g.68335820G>T | CA490946346 | ITGA11 | c.1302C>A (p.Ser434=) n.197-6C>A n.281C>A c.996C>A (p.Ser332=) c.1095C>A (p.Ser365=) | |
| 15 | g.68335821G>A | CA392977911 | ITGA11 | c.1301C>T (p.Ser434Phe) n.197-7C>T n.280C>T c.995C>T (p.Ser332Phe) c.1094C>T (p.Ser365Phe) | dbSNP |
| 15 | g.68335821G>C | CA392977912 | ITGA11 | c.1301C>G (p.Ser434Cys) n.197-7C>G n.280C>G c.995C>G (p.Ser332Cys) c.1094C>G (p.Ser365Cys) | |
| 15 | g.68335821G= | CA2184934374 | ITGA11 | c.1301C= (p.Ser434=) n.197-7C= n.280C= c.995C= (p.Ser332=) c.1094C= (p.Ser365=) | |
| 15 | g.68335821G>T | CA392977913 | ITGA11 | c.1301C>A (p.Ser434Tyr) n.197-7C>A n.280C>A c.995C>A (p.Ser332Tyr) c.1094C>A (p.Ser365Tyr) | |
| 15 | g.68335822A>C | CA392977914 | ITGA11 | c.1300T>G (p.Ser434Ala) n.197-8T>G n.279T>G c.994T>G (p.Ser332Ala) c.1093T>G (p.Ser365Ala) | |
| 15 | g.68335822A>G | CA392977915 | ITGA11 | c.1300T>C (p.Ser434Pro) n.197-8T>C n.279T>C c.994T>C (p.Ser332Pro) c.1093T>C (p.Ser365Pro) | |
| 15 | g.68335822A>T | CA392977916 | ITGA11 | c.1300T>A (p.Ser434Thr) n.197-8T>A n.279T>A c.994T>A (p.Ser332Thr) c.1093T>A (p.Ser365Thr) | |
| 15 | g.68335823C>A | CA490946348 | ITGA11 | c.1299G>T (p.Val433=) n.197-9G>T n.278G>T c.993G>T (p.Val331=) c.1092G>T (p.Val364=) | |
| 15 | g.68335823C>G | CA490946349 | ITGA11 | c.1299G>C (p.Val433=) n.197-9G>C n.278G>C c.993G>C (p.Val331=) c.1092G>C (p.Val364=) | |
| 15 | g.68335823C>T | CA490946347 | ITGA11 | c.1299G>A (p.Val433=) n.197-9G>A n.278G>A c.993G>A (p.Val331=) c.1092G>A (p.Val364=) | |
| 15 | g.68335824A= | CA2184934375 | ITGA11 | c.1298T= (p.Val433=) n.197-10T= n.277T= c.992T= (p.Val331=) c.1091T= (p.Val364=) | |
| 15 | g.68335824A>C | CA392977917 | ITGA11 | c.1298T>G (p.Val433Gly) n.197-10T>G n.277T>G c.992T>G (p.Val331Gly) c.1091T>G (p.Val364Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.68335824A>G | CA392977918 | ITGA11 | c.1298T>C (p.Val433Ala) n.197-10T>C n.277T>C c.992T>C (p.Val331Ala) c.1091T>C (p.Val364Ala) | |
| 15 | g.68335824A>T | CA392977919 | ITGA11 | c.1298T>A (p.Val433Glu) n.197-10T>A n.277T>A c.992T>A (p.Val331Glu) c.1091T>A (p.Val364Glu) | |
| 15 | g.68335825C>A | CA392977920 | ITGA11 | c.1297G>T (p.Val433Leu) n.197-11G>T n.276G>T c.991G>T (p.Val331Leu) c.1090G>T (p.Val364Leu) | |
| 15 | g.68335825C= | CA2184934376 | ITGA11 | c.1297G= (p.Val433=) n.197-11G= n.276G= c.991G= (p.Val331=) c.1090G= (p.Val364=) | |
| 15 | g.68335825C>G | CA392977921 | ITGA11 | c.1297G>C (p.Val433Leu) n.197-11G>C n.276G>C c.991G>C (p.Val331Leu) c.1090G>C (p.Val364Leu) | |
| 15 | g.68335825C>T | CA7631869 | ITGA11 | c.1297G>A (p.Val433Met) n.197-11G>A n.276G>A c.991G>A (p.Val331Met) c.1090G>A (p.Val364Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335826G>A | CA490946352 | ITGA11 | c.1296C>T (p.Val432=) n.197-12C>T n.275C>T c.990C>T (p.Val330=) c.1089C>T (p.Val363=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.68335826G>C | CA490946351 | ITGA11 | c.1296C>G (p.Val432=) n.197-12C>G n.275C>G c.990C>G (p.Val330=) c.1089C>G (p.Val363=) | |
| 15 | g.68335826G= | CA2184934377 | ITGA11 | c.1296C= (p.Val432=) n.197-12C= n.275C= c.990C= (p.Val330=) c.1089C= (p.Val363=) | |
| 15 | g.68335826G>T | CA490946350 | ITGA11 | c.1296C>A (p.Val432=) n.197-12C>A n.275C>A c.990C>A (p.Val330=) c.1089C>A (p.Val363=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.68335827A>C | CA392977922 | ITGA11 | c.1295T>G (p.Val432Gly) n.197-13T>G n.274T>G c.989T>G (p.Val330Gly) c.1088T>G (p.Val363Gly) | |
| 15 | g.68335827A>G | CA392977923 | ITGA11 | c.1295T>C (p.Val432Ala) n.197-13T>C n.274T>C c.989T>C (p.Val330Ala) c.1088T>C (p.Val363Ala) | |
| 15 | g.68335827A>T | CA392977924 | ITGA11 | c.1295T>A (p.Val432Asp) n.197-13T>A n.274T>A c.989T>A (p.Val330Asp) c.1088T>A (p.Val363Asp) | |
| 15 | g.68335828C>A | CA392977925 | ITGA11 | c.1294G>T (p.Val432Phe) n.197-14G>T n.273G>T c.988G>T (p.Val330Phe) c.1087G>T (p.Val363Phe) | |
| 15 | g.68335828C>G | CA392977926 | ITGA11 | c.1294G>C (p.Val432Leu) n.197-14G>C n.273G>C c.988G>C (p.Val330Leu) c.1087G>C (p.Val363Leu) | |
| 15 | g.68335828C>T | CA392977927 | ITGA11 | c.1294G>A (p.Val432Ile) n.197-14G>A n.273G>A c.988G>A (p.Val330Ile) c.1087G>A (p.Val363Ile) | |
| 15 | g.68335829C>A | CA490946354 | ITGA11 | c.1293G>T (p.Ser431=) n.197-15G>T n.272G>T c.987G>T (p.Ser329=) c.1086G>T (p.Ser362=) | gnomAD v4 |
| 15 | g.68335829C= | CA2184934378 | ITGA11 | c.1293G= (p.Ser431=) n.197-15G= n.272G= c.987G= (p.Ser329=) c.1086G= (p.Ser362=) | |
| 15 | g.68335829C>G | CA490946353 | ITGA11 | c.1293G>C (p.Ser431=) n.197-15G>C n.272G>C c.987G>C (p.Ser329=) c.1086G>C (p.Ser362=) | |
| 15 | g.68335829C>T | CA7631870 | ITGA11 | c.1293G>A (p.Ser431=) n.197-15G>A n.272G>A c.987G>A (p.Ser329=) c.1086G>A (p.Ser362=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335830G>A | CA7631871 | ITGA11 | c.1292C>T (p.Ser431Leu) n.197-16C>T n.271C>T c.986C>T (p.Ser329Leu) c.1085C>T (p.Ser362Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.68335830G>C | CA392977928 | ITGA11 | c.1292C>G (p.Ser431Trp) n.197-16C>G n.271C>G c.986C>G (p.Ser329Trp) c.1085C>G (p.Ser362Trp) | |
| 15 | g.68335830G= | CA2184934379 | ITGA11 | c.1292C= (p.Ser431=) n.197-16C= n.271C= c.986C= (p.Ser329=) c.1085C= (p.Ser362=) | |
| 15 | g.68335830G>T | CA392977929 | ITGA11 | c.1292C>A (p.Ser431Ter) n.197-16C>A n.271C>A c.986C>A (p.Ser329Ter) c.1085C>A (p.Ser362Ter) | gnomAD v4 |
| 15 | g.68335832_68335836dup | CA2804596028 | ITGA11 | c.1288_1292dup (p.Val432HisfsTer?) n.197-20_197-16dup n.267_271dup c.982_986dup (p.Val330HisfsTer?) c.1081_1085dup (p.Val363HisfsTer?) | |
| 15 | g.68335831A>C | CA392977930 | ITGA11 | c.1291T>G (p.Ser431Ala) n.197-17T>G n.270T>G c.985T>G (p.Ser329Ala) c.1084T>G (p.Ser362Ala) | |
| 15 | g.68335831A>G | CA392977931 | ITGA11 | c.1291T>C (p.Ser431Pro) n.197-17T>C n.270T>C c.985T>C (p.Ser329Pro) c.1084T>C (p.Ser362Pro) | |
| 15 | g.68335831A>T | CA392977932 | ITGA11 | c.1291T>A (p.Ser431Thr) n.197-17T>A n.270T>A c.985T>A (p.Ser329Thr) c.1084T>A (p.Ser362Thr) |