WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154558532_154564461del | CA2580617548 | IKBKG | c.364_1224del c.400_1260del c.-3_858del c.400_1107del c.400_1317del c.400_963del c.*392_*1252del c.400-3_1236del c.400-3_1257del c.604_1464del c.400_1239del c.604-3_1461del c.604_1321+441del c.604_1311del c.400-3_1104del c.399+2156_891del n.540+2156_1129del | |
| X | g.154564364_154564376del | CA2695237093 | IKBKG | c.1127_1139del (p.Pro376HisfsTer?) c.1163_1175del (p.Pro388HisfsTer?) c.761_773del (p.Pro254HisfsTer?) c.1010_1022del (p.Pro337HisfsTer?) c.1220_1232del (p.Pro407HisfsTer?) c.866_878del (p.Pro289HisfsTer?) c.*1155_*1167del (n.*1155_*1167del) c.1139_1151del (p.Pro380HisfsTer?) c.1160_1172del (p.Pro387HisfsTer?) c.1367_1379del (p.Pro456HisfsTer?) c.1142_1154del (p.Pro381HisfsTer?) c.1364_1376del (p.Pro455HisfsTer?) c.1321+344_1321+356del (n.1321+344_1321+356del) c.1214_1226del (p.Pro405HisfsTer?) c.1007_1019del (p.Pro336HisfsTer?) c.794_806del (p.Pro265HisfsTer?) n.1032_1044del | |
| X | g.154564360A>C | CA415219410 | IKBKG | c.1123A>C (p.Ser375Arg) c.1159A>C (p.Ser387Arg) c.757A>C (p.Ser253Arg) c.1006A>C (p.Ser336Arg) c.1216A>C (p.Ser406Arg) c.862A>C (p.Ser288Arg) c.*1151A>C (n.*1151A>C) c.1135A>C (p.Ser379Arg) c.1156A>C (p.Ser386Arg) c.1363A>C (p.Ser455Arg) c.1138A>C (p.Ser380Arg) c.1360A>C (p.Ser454Arg) c.1321+340A>C (n.1321+340A>C) c.1210A>C (p.Ser404Arg) c.1003A>C (p.Ser335Arg) c.790A>C (p.Ser264Arg) n.1028A>C | |
| X | g.154564360A>G | CA415219416 | IKBKG | c.1123A>G (p.Ser375Gly) c.1159A>G (p.Ser387Gly) c.757A>G (p.Ser253Gly) c.1006A>G (p.Ser336Gly) c.1216A>G (p.Ser406Gly) c.862A>G (p.Ser288Gly) c.*1151A>G (n.*1151A>G) c.1135A>G (p.Ser379Gly) c.1156A>G (p.Ser386Gly) c.1363A>G (p.Ser455Gly) c.1138A>G (p.Ser380Gly) c.1360A>G (p.Ser454Gly) c.1321+340A>G (n.1321+340A>G) c.1210A>G (p.Ser404Gly) c.1003A>G (p.Ser335Gly) c.790A>G (p.Ser264Gly) n.1028A>G | |
| X | g.154564360A>T | CA415219424 | IKBKG | c.1123A>T (p.Ser375Cys) c.1159A>T (p.Ser387Cys) c.757A>T (p.Ser253Cys) c.1006A>T (p.Ser336Cys) c.1216A>T (p.Ser406Cys) c.862A>T (p.Ser288Cys) c.*1151A>T (n.*1151A>T) c.1135A>T (p.Ser379Cys) c.1156A>T (p.Ser386Cys) c.1363A>T (p.Ser455Cys) c.1138A>T (p.Ser380Cys) c.1360A>T (p.Ser454Cys) c.1321+340A>T (n.1321+340A>T) c.1210A>T (p.Ser404Cys) c.1003A>T (p.Ser335Cys) c.790A>T (p.Ser264Cys) n.1028A>T | |
| X | g.154564361G>A | CA415219431 | IKBKG | c.1124G>A (p.Ser375Asn) c.1160G>A (p.Ser387Asn) c.758G>A (p.Ser253Asn) c.1007G>A (p.Ser336Asn) c.1217G>A (p.Ser406Asn) c.863G>A (p.Ser288Asn) c.*1152G>A (n.*1152G>A) c.1136G>A (p.Ser379Asn) c.1157G>A (p.Ser386Asn) c.1364G>A (p.Ser455Asn) c.1139G>A (p.Ser380Asn) c.1361G>A (p.Ser454Asn) c.1321+341G>A (n.1321+341G>A) c.1211G>A (p.Ser404Asn) c.1004G>A (p.Ser335Asn) c.791G>A (p.Ser264Asn) n.1029G>A | |
| X | g.154564361G>C | CA415219444 | IKBKG | c.1124G>C (p.Ser375Thr) c.1160G>C (p.Ser387Thr) c.758G>C (p.Ser253Thr) c.1007G>C (p.Ser336Thr) c.1217G>C (p.Ser406Thr) c.863G>C (p.Ser288Thr) c.*1152G>C (n.*1152G>C) c.1136G>C (p.Ser379Thr) c.1157G>C (p.Ser386Thr) c.1364G>C (p.Ser455Thr) c.1139G>C (p.Ser380Thr) c.1361G>C (p.Ser454Thr) c.1321+341G>C (n.1321+341G>C) c.1211G>C (p.Ser404Thr) c.1004G>C (p.Ser335Thr) c.791G>C (p.Ser264Thr) n.1029G>C | |
| X | g.154564361G>T | CA415219449 | IKBKG | c.1124G>T (p.Ser375Ile) c.1160G>T (p.Ser387Ile) c.758G>T (p.Ser253Ile) c.1007G>T (p.Ser336Ile) c.1217G>T (p.Ser406Ile) c.863G>T (p.Ser288Ile) c.*1152G>T (n.*1152G>T) c.1136G>T (p.Ser379Ile) c.1157G>T (p.Ser386Ile) c.1364G>T (p.Ser455Ile) c.1139G>T (p.Ser380Ile) c.1361G>T (p.Ser454Ile) c.1321+341G>T (n.1321+341G>T) c.1211G>T (p.Ser404Ile) c.1004G>T (p.Ser335Ile) c.791G>T (p.Ser264Ile) n.1029G>T | |
| X | g.154564361_154564362delinsGC | CA2466734034 | IKBKG | c.1124_1125delinsGC (p.Ser375=) c.1160_1161delinsGC (p.Ser387=) c.758_759delinsGC (p.Ser253=) c.1007_1008delinsGC (p.Ser336=) c.1217_1218delinsGC (p.Ser406=) c.863_864delinsGC (p.Ser288=) c.*1152_*1153delinsGC (n.*1152_*1153delinsGC) c.1136_1137delinsGC (p.Ser379=) c.1157_1158delinsGC (p.Ser386=) c.1364_1365delinsGC (p.Ser455=) c.1139_1140delinsGC (p.Ser380=) c.1361_1362delinsGC (p.Ser454=) c.1321+341_1321+342delinsGC (n.1321+341_1321+342delinsGC) c.1211_1212delinsGC (p.Ser404=) c.1004_1005delinsGC (p.Ser335=) c.791_792delinsGC (p.Ser264=) n.1029_1030delinsGC | |
| X | g.154564362C>A | CA415219455 | IKBKG | c.1125C>A (p.Ser375Arg) c.1161C>A (p.Ser387Arg) c.759C>A (p.Ser253Arg) c.1008C>A (p.Ser336Arg) c.1218C>A (p.Ser406Arg) c.864C>A (p.Ser288Arg) c.*1153C>A (n.*1153C>A) c.1137C>A (p.Ser379Arg) c.1158C>A (p.Ser386Arg) c.1365C>A (p.Ser455Arg) c.1140C>A (p.Ser380Arg) c.1362C>A (p.Ser454Arg) c.1321+342C>A (n.1321+342C>A) c.1212C>A (p.Ser404Arg) c.1005C>A (p.Ser335Arg) c.792C>A (p.Ser264Arg) n.1030C>A | |
| X | g.154564362C= | CA2466734035 | IKBKG | c.1125C= (p.Ser375=) c.1161C= (p.Ser387=) c.759C= (p.Ser253=) c.1008C= (p.Ser336=) c.1218C= (p.Ser406=) c.864C= (p.Ser288=) c.*1153C= (n.*1153C=) c.1137C= (p.Ser379=) c.1158C= (p.Ser386=) c.1365C= (p.Ser455=) c.1140C= (p.Ser380=) c.1362C= (p.Ser454=) c.1321+342C= (n.1321+342C=) c.1212C= (p.Ser404=) c.1005C= (p.Ser335=) c.792C= (p.Ser264=) n.1030C= | |
| X | g.154564362C>G | CA415219461 | IKBKG | c.1125C>G (p.Ser375Arg) c.1161C>G (p.Ser387Arg) c.759C>G (p.Ser253Arg) c.1008C>G (p.Ser336Arg) c.1218C>G (p.Ser406Arg) c.864C>G (p.Ser288Arg) c.*1153C>G (n.*1153C>G) c.1137C>G (p.Ser379Arg) c.1158C>G (p.Ser386Arg) c.1365C>G (p.Ser455Arg) c.1140C>G (p.Ser380Arg) c.1362C>G (p.Ser454Arg) c.1321+342C>G (n.1321+342C>G) c.1212C>G (p.Ser404Arg) c.1005C>G (p.Ser335Arg) c.792C>G (p.Ser264Arg) n.1030C>G | |
| X | g.154564362C>T | CA519287161 | IKBKG | c.1125C>T (p.Ser375=) c.1161C>T (p.Ser387=) c.759C>T (p.Ser253=) c.1008C>T (p.Ser336=) c.1218C>T (p.Ser406=) c.864C>T (p.Ser288=) c.*1153C>T (n.*1153C>T) c.1137C>T (p.Ser379=) c.1158C>T (p.Ser386=) c.1365C>T (p.Ser455=) c.1140C>T (p.Ser380=) c.1362C>T (p.Ser454=) c.1321+342C>T (n.1321+342C>T) c.1212C>T (p.Ser404=) c.1005C>T (p.Ser335=) c.792C>T (p.Ser264=) n.1030C>T | dbSNP gnomAD v2 |
| X | g.154564368dup | CA10566455 | IKBKG | c.1131dup (p.Glu378ArgfsTer5) c.1167dup (p.Glu390ArgfsTer5) c.765dup (p.Glu256ArgfsTer5) c.1014dup (p.Glu339ArgfsTer5) c.1224dup (p.Glu409ArgfsTer5) c.870dup (p.Glu291ArgfsTer5) c.*1159dup (n.*1159dup) c.1143dup (p.Glu382ArgfsTer5) c.1164dup (p.Glu389ArgfsTer5) c.1371dup (p.Glu458ArgfsTer5) c.1146dup (p.Glu383ArgfsTer5) c.1368dup (p.Glu457ArgfsTer5) c.1321+348dup (n.1321+348dup) c.1218dup (p.Glu407ArgfsTer5) c.1011dup (p.Glu338ArgfsTer5) c.798dup (p.Glu267ArgfsTer5) n.1036dup | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.154564368del | CA519287162 | IKBKG | c.1131del (p.Glu378ArgfsTer?) c.1167del (p.Glu390ArgfsTer?) c.765del (p.Glu256ArgfsTer?) c.1014del (p.Glu339ArgfsTer?) c.1224del (p.Glu409ArgfsTer?) c.870del (p.Glu291ArgfsTer?) c.*1159del (n.*1159del) c.1143del (p.Glu382ArgfsTer?) c.1164del (p.Glu389ArgfsTer?) c.1371del (p.Glu458ArgfsTer?) c.1146del (p.Glu383ArgfsTer?) c.1368del (p.Glu457ArgfsTer?) c.1321+348del (n.1321+348del) c.1218del (p.Glu407ArgfsTer?) c.1011del (p.Glu338ArgfsTer?) c.798del (p.Glu267ArgfsTer?) n.1036del | ClinVar dbSNP |
| X | g.154564363C>A | CA415219472 | IKBKG | c.1126C>A (p.Pro376Thr) c.1162C>A (p.Pro388Thr) c.760C>A (p.Pro254Thr) c.1009C>A (p.Pro337Thr) c.1219C>A (p.Pro407Thr) c.865C>A (p.Pro289Thr) c.*1154C>A (n.*1154C>A) c.1138C>A (p.Pro380Thr) c.1159C>A (p.Pro387Thr) c.1366C>A (p.Pro456Thr) c.1141C>A (p.Pro381Thr) c.1363C>A (p.Pro455Thr) c.1321+343C>A (n.1321+343C>A) c.1213C>A (p.Pro405Thr) c.1006C>A (p.Pro336Thr) c.793C>A (p.Pro265Thr) n.1031C>A | |
| X | g.154564363C>G | CA415219475 | IKBKG | c.1126C>G (p.Pro376Ala) c.1162C>G (p.Pro388Ala) c.760C>G (p.Pro254Ala) c.1009C>G (p.Pro337Ala) c.1219C>G (p.Pro407Ala) c.865C>G (p.Pro289Ala) c.*1154C>G (n.*1154C>G) c.1138C>G (p.Pro380Ala) c.1159C>G (p.Pro387Ala) c.1366C>G (p.Pro456Ala) c.1141C>G (p.Pro381Ala) c.1363C>G (p.Pro455Ala) c.1321+343C>G (n.1321+343C>G) c.1213C>G (p.Pro405Ala) c.1006C>G (p.Pro336Ala) c.793C>G (p.Pro265Ala) n.1031C>G | |
| X | g.154564363C>T | CA415219480 | IKBKG | c.1126C>T (p.Pro376Ser) c.1162C>T (p.Pro388Ser) c.760C>T (p.Pro254Ser) c.1009C>T (p.Pro337Ser) c.1219C>T (p.Pro407Ser) c.865C>T (p.Pro289Ser) c.*1154C>T (n.*1154C>T) c.1138C>T (p.Pro380Ser) c.1159C>T (p.Pro387Ser) c.1366C>T (p.Pro456Ser) c.1141C>T (p.Pro381Ser) c.1363C>T (p.Pro455Ser) c.1321+343C>T (n.1321+343C>T) c.1213C>T (p.Pro405Ser) c.1006C>T (p.Pro336Ser) c.793C>T (p.Pro265Ser) n.1031C>T | |
| X | g.154564364C>A | CA415219484 | IKBKG | c.1127C>A (p.Pro376His) c.1163C>A (p.Pro388His) c.761C>A (p.Pro254His) c.1010C>A (p.Pro337His) c.1220C>A (p.Pro407His) c.866C>A (p.Pro289His) c.*1155C>A (n.*1155C>A) c.1139C>A (p.Pro380His) c.1160C>A (p.Pro387His) c.1367C>A (p.Pro456His) c.1142C>A (p.Pro381His) c.1364C>A (p.Pro455His) c.1321+344C>A (n.1321+344C>A) c.1214C>A (p.Pro405His) c.1007C>A (p.Pro336His) c.794C>A (p.Pro265His) n.1032C>A | |
| X | g.154564364C= | CA2466734036 | IKBKG | c.1127C= (p.Pro376=) c.1163C= (p.Pro388=) c.761C= (p.Pro254=) c.1010C= (p.Pro337=) c.1220C= (p.Pro407=) c.866C= (p.Pro289=) c.*1155C= (n.*1155C=) c.1139C= (p.Pro380=) c.1160C= (p.Pro387=) c.1367C= (p.Pro456=) c.1142C= (p.Pro381=) c.1364C= (p.Pro455=) c.1321+344C= (n.1321+344C=) c.1214C= (p.Pro405=) c.1007C= (p.Pro336=) c.794C= (p.Pro265=) n.1032C= | |
| X | g.154564364C>G | CA415219485 | IKBKG | c.1127C>G (p.Pro376Arg) c.1163C>G (p.Pro388Arg) c.761C>G (p.Pro254Arg) c.1010C>G (p.Pro337Arg) c.1220C>G (p.Pro407Arg) c.866C>G (p.Pro289Arg) c.*1155C>G (n.*1155C>G) c.1139C>G (p.Pro380Arg) c.1160C>G (p.Pro387Arg) c.1367C>G (p.Pro456Arg) c.1142C>G (p.Pro381Arg) c.1364C>G (p.Pro455Arg) c.1321+344C>G (n.1321+344C>G) c.1214C>G (p.Pro405Arg) c.1007C>G (p.Pro336Arg) c.794C>G (p.Pro265Arg) n.1032C>G | |
| X | g.154564364C>T | CA415219487 | IKBKG | c.1127C>T (p.Pro376Leu) c.1163C>T (p.Pro388Leu) c.761C>T (p.Pro254Leu) c.1010C>T (p.Pro337Leu) c.1220C>T (p.Pro407Leu) c.866C>T (p.Pro289Leu) c.*1155C>T (n.*1155C>T) c.1139C>T (p.Pro380Leu) c.1160C>T (p.Pro387Leu) c.1367C>T (p.Pro456Leu) c.1142C>T (p.Pro381Leu) c.1364C>T (p.Pro455Leu) c.1321+344C>T (n.1321+344C>T) c.1214C>T (p.Pro405Leu) c.1007C>T (p.Pro336Leu) c.794C>T (p.Pro265Leu) n.1032C>T | |
| X | g.154564365C>A | CA519287165 | IKBKG | c.1128C>A (p.Pro376=) c.1164C>A (p.Pro388=) c.762C>A (p.Pro254=) c.1011C>A (p.Pro337=) c.1221C>A (p.Pro407=) c.867C>A (p.Pro289=) c.*1156C>A (n.*1156C>A) c.1140C>A (p.Pro380=) c.1161C>A (p.Pro387=) c.1368C>A (p.Pro456=) c.1143C>A (p.Pro381=) c.1365C>A (p.Pro455=) c.1321+345C>A (n.1321+345C>A) c.1215C>A (p.Pro405=) c.1008C>A (p.Pro336=) c.795C>A (p.Pro265=) n.1033C>A | |
| X | g.154564365C>G | CA519287166 | IKBKG | c.1128C>G (p.Pro376=) c.1164C>G (p.Pro388=) c.762C>G (p.Pro254=) c.1011C>G (p.Pro337=) c.1221C>G (p.Pro407=) c.867C>G (p.Pro289=) c.*1156C>G (n.*1156C>G) c.1140C>G (p.Pro380=) c.1161C>G (p.Pro387=) c.1368C>G (p.Pro456=) c.1143C>G (p.Pro381=) c.1365C>G (p.Pro455=) c.1321+345C>G (n.1321+345C>G) c.1215C>G (p.Pro405=) c.1008C>G (p.Pro336=) c.795C>G (p.Pro265=) n.1033C>G | |
| X | g.154564365C>T | CA519287167 | IKBKG | c.1128C>T (p.Pro376=) c.1164C>T (p.Pro388=) c.762C>T (p.Pro254=) c.1011C>T (p.Pro337=) c.1221C>T (p.Pro407=) c.867C>T (p.Pro289=) c.*1156C>T (n.*1156C>T) c.1140C>T (p.Pro380=) c.1161C>T (p.Pro387=) c.1368C>T (p.Pro456=) c.1143C>T (p.Pro381=) c.1365C>T (p.Pro455=) c.1321+345C>T (n.1321+345C>T) c.1215C>T (p.Pro405=) c.1008C>T (p.Pro336=) c.795C>T (p.Pro265=) n.1033C>T | |
| X | g.154564367_154564379dup | CA1139667925 | IKBKG | c.1130_1142dup (p.Asp382ArgfsTer5) c.1166_1178dup (p.Asp394ArgfsTer5) c.764_776dup (p.Asp260ArgfsTer5) c.1013_1025dup (p.Asp343ArgfsTer5) c.1223_1235dup (p.Asp413ArgfsTer5) c.869_881dup (p.Asp295ArgfsTer5) c.*1158_*1170dup (n.*1158_*1170dup) c.1142_1154dup (p.Asp386ArgfsTer5) c.1163_1175dup (p.Asp393ArgfsTer5) c.1370_1382dup (p.Asp462ArgfsTer5) c.1145_1157dup (p.Asp387ArgfsTer5) c.1367_1379dup (p.Asp461ArgfsTer5) c.1321+347_1321+359dup (n.1321+347_1321+359dup) c.1217_1229dup (p.Asp411ArgfsTer5) c.1010_1022dup (p.Asp342ArgfsTer5) c.797_809dup (p.Asp271ArgfsTer5) n.1035_1047dup | ClinVar dbSNP |
| X | g.154564366C>A | CA415219490 | IKBKG | c.1129C>A (p.Pro377Thr) c.1165C>A (p.Pro389Thr) c.763C>A (p.Pro255Thr) c.1012C>A (p.Pro338Thr) c.1222C>A (p.Pro408Thr) c.868C>A (p.Pro290Thr) c.*1157C>A (n.*1157C>A) c.1141C>A (p.Pro381Thr) c.1162C>A (p.Pro388Thr) c.1369C>A (p.Pro457Thr) c.1144C>A (p.Pro382Thr) c.1366C>A (p.Pro456Thr) c.1321+346C>A (n.1321+346C>A) c.1216C>A (p.Pro406Thr) c.1009C>A (p.Pro337Thr) c.796C>A (p.Pro266Thr) n.1034C>A | |
| X | g.154564366C>G | CA415219493 | IKBKG | c.1129C>G (p.Pro377Ala) c.1165C>G (p.Pro389Ala) c.763C>G (p.Pro255Ala) c.1012C>G (p.Pro338Ala) c.1222C>G (p.Pro408Ala) c.868C>G (p.Pro290Ala) c.*1157C>G (n.*1157C>G) c.1141C>G (p.Pro381Ala) c.1162C>G (p.Pro388Ala) c.1369C>G (p.Pro457Ala) c.1144C>G (p.Pro382Ala) c.1366C>G (p.Pro456Ala) c.1321+346C>G (n.1321+346C>G) c.1216C>G (p.Pro406Ala) c.1009C>G (p.Pro337Ala) c.796C>G (p.Pro266Ala) n.1034C>G | |
| X | g.154564366C>T | CA415219494 | IKBKG | c.1129C>T (p.Pro377Ser) c.1165C>T (p.Pro389Ser) c.763C>T (p.Pro255Ser) c.1012C>T (p.Pro338Ser) c.1222C>T (p.Pro408Ser) c.868C>T (p.Pro290Ser) c.*1157C>T (n.*1157C>T) c.1141C>T (p.Pro381Ser) c.1162C>T (p.Pro388Ser) c.1369C>T (p.Pro457Ser) c.1144C>T (p.Pro382Ser) c.1366C>T (p.Pro456Ser) c.1321+346C>T (n.1321+346C>T) c.1216C>T (p.Pro406Ser) c.1009C>T (p.Pro337Ser) c.796C>T (p.Pro266Ser) n.1034C>T | |
| X | g.154564367C>A | CA415219501 | IKBKG | c.1130C>A (p.Pro377His) c.1166C>A (p.Pro389His) c.764C>A (p.Pro255His) c.1013C>A (p.Pro338His) c.1223C>A (p.Pro408His) c.869C>A (p.Pro290His) c.*1158C>A (n.*1158C>A) c.1142C>A (p.Pro381His) c.1163C>A (p.Pro388His) c.1370C>A (p.Pro457His) c.1145C>A (p.Pro382His) c.1367C>A (p.Pro456His) c.1321+347C>A (n.1321+347C>A) c.1217C>A (p.Pro406His) c.1010C>A (p.Pro337His) c.797C>A (p.Pro266His) n.1035C>A | |
| X | g.154564367C= | CA2466734037 | IKBKG | c.1130C= (p.Pro377=) c.1166C= (p.Pro389=) c.764C= (p.Pro255=) c.1013C= (p.Pro338=) c.1223C= (p.Pro408=) c.869C= (p.Pro290=) c.*1158C= (n.*1158C=) c.1142C= (p.Pro381=) c.1163C= (p.Pro388=) c.1370C= (p.Pro457=) c.1145C= (p.Pro382=) c.1367C= (p.Pro456=) c.1321+347C= (n.1321+347C=) c.1217C= (p.Pro406=) c.1010C= (p.Pro337=) c.797C= (p.Pro266=) n.1035C= | |
| X | g.154564367C>G | CA415219498 | IKBKG | c.1130C>G (p.Pro377Arg) c.1166C>G (p.Pro389Arg) c.764C>G (p.Pro255Arg) c.1013C>G (p.Pro338Arg) c.1223C>G (p.Pro408Arg) c.869C>G (p.Pro290Arg) c.*1158C>G (n.*1158C>G) c.1142C>G (p.Pro381Arg) c.1163C>G (p.Pro388Arg) c.1370C>G (p.Pro457Arg) c.1145C>G (p.Pro382Arg) c.1367C>G (p.Pro456Arg) c.1321+347C>G (n.1321+347C>G) c.1217C>G (p.Pro406Arg) c.1010C>G (p.Pro337Arg) c.797C>G (p.Pro266Arg) n.1035C>G | |
| X | g.154564367C>T | CA10566456 | IKBKG | c.1130C>T (p.Pro377Leu) c.1166C>T (p.Pro389Leu) c.764C>T (p.Pro255Leu) c.1013C>T (p.Pro338Leu) c.1223C>T (p.Pro408Leu) c.869C>T (p.Pro290Leu) c.*1158C>T (n.*1158C>T) c.1142C>T (p.Pro381Leu) c.1163C>T (p.Pro388Leu) c.1370C>T (p.Pro457Leu) c.1145C>T (p.Pro382Leu) c.1367C>T (p.Pro456Leu) c.1321+347C>T (n.1321+347C>T) c.1217C>T (p.Pro406Leu) c.1010C>T (p.Pro337Leu) c.797C>T (p.Pro266Leu) n.1035C>T | dbSNP ExAC gnomAD v2 |
| X | g.154564368C>A | CA519287169 | IKBKG | c.1131C>A (p.Pro377=) c.1167C>A (p.Pro389=) c.765C>A (p.Pro255=) c.1014C>A (p.Pro338=) c.1224C>A (p.Pro408=) c.870C>A (p.Pro290=) c.*1159C>A (n.*1159C>A) c.1143C>A (p.Pro381=) c.1164C>A (p.Pro388=) c.1371C>A (p.Pro457=) c.1146C>A (p.Pro382=) c.1368C>A (p.Pro456=) c.1321+348C>A (n.1321+348C>A) c.1218C>A (p.Pro406=) c.1011C>A (p.Pro337=) c.798C>A (p.Pro266=) n.1036C>A | |
| X | g.154564368C>G | CA519287170 | IKBKG | c.1131C>G (p.Pro377=) c.1167C>G (p.Pro389=) c.765C>G (p.Pro255=) c.1014C>G (p.Pro338=) c.1224C>G (p.Pro408=) c.870C>G (p.Pro290=) c.*1159C>G (n.*1159C>G) c.1143C>G (p.Pro381=) c.1164C>G (p.Pro388=) c.1371C>G (p.Pro457=) c.1146C>G (p.Pro382=) c.1368C>G (p.Pro456=) c.1321+348C>G (n.1321+348C>G) c.1218C>G (p.Pro406=) c.1011C>G (p.Pro337=) c.798C>G (p.Pro266=) n.1036C>G | |
| X | g.154564368C>T | CA519287171 | IKBKG | c.1131C>T (p.Pro377=) c.1167C>T (p.Pro389=) c.765C>T (p.Pro255=) c.1014C>T (p.Pro338=) c.1224C>T (p.Pro408=) c.870C>T (p.Pro290=) c.*1159C>T (n.*1159C>T) c.1143C>T (p.Pro381=) c.1164C>T (p.Pro388=) c.1371C>T (p.Pro457=) c.1146C>T (p.Pro382=) c.1368C>T (p.Pro456=) c.1321+348C>T (n.1321+348C>T) c.1218C>T (p.Pro406=) c.1011C>T (p.Pro337=) c.798C>T (p.Pro266=) n.1036C>T | |
| X | g.154564369G>A | CA415219504 | IKBKG | c.1132G>A (p.Glu378Lys) c.1168G>A (p.Glu390Lys) c.766G>A (p.Glu256Lys) c.1015G>A (p.Glu339Lys) c.1225G>A (p.Glu409Lys) c.871G>A (p.Glu291Lys) c.*1160G>A (n.*1160G>A) c.1144G>A (p.Glu382Lys) c.1165G>A (p.Glu389Lys) c.1372G>A (p.Glu458Lys) c.1147G>A (p.Glu383Lys) c.1369G>A (p.Glu457Lys) c.1321+349G>A (n.1321+349G>A) c.1219G>A (p.Glu407Lys) c.1012G>A (p.Glu338Lys) c.799G>A (p.Glu267Lys) n.1037G>A | |
| X | g.154564369G>C | CA415219505 | IKBKG | c.1132G>C (p.Glu378Gln) c.1168G>C (p.Glu390Gln) c.766G>C (p.Glu256Gln) c.1015G>C (p.Glu339Gln) c.1225G>C (p.Glu409Gln) c.871G>C (p.Glu291Gln) c.*1160G>C (n.*1160G>C) c.1144G>C (p.Glu382Gln) c.1165G>C (p.Glu389Gln) c.1372G>C (p.Glu458Gln) c.1147G>C (p.Glu383Gln) c.1369G>C (p.Glu457Gln) c.1321+349G>C (n.1321+349G>C) c.1219G>C (p.Glu407Gln) c.1012G>C (p.Glu338Gln) c.799G>C (p.Glu267Gln) n.1037G>C | |
| X | g.154564369G>T | CA415219507 | IKBKG | c.1132G>T (p.Glu378Ter) c.1168G>T (p.Glu390Ter) c.766G>T (p.Glu256Ter) c.1015G>T (p.Glu339Ter) c.1225G>T (p.Glu409Ter) c.871G>T (p.Glu291Ter) c.*1160G>T (n.*1160G>T) c.1144G>T (p.Glu382Ter) c.1165G>T (p.Glu389Ter) c.1372G>T (p.Glu458Ter) c.1147G>T (p.Glu383Ter) c.1369G>T (p.Glu457Ter) c.1321+349G>T (n.1321+349G>T) c.1219G>T (p.Glu407Ter) c.1012G>T (p.Glu338Ter) c.799G>T (p.Glu267Ter) n.1037G>T | |
| X | g.154564370A>C | CA415219511 | IKBKG | c.1133A>C (p.Glu378Ala) c.1169A>C (p.Glu390Ala) c.767A>C (p.Glu256Ala) c.1016A>C (p.Glu339Ala) c.1226A>C (p.Glu409Ala) c.872A>C (p.Glu291Ala) c.*1161A>C (n.*1161A>C) c.1145A>C (p.Glu382Ala) c.1166A>C (p.Glu389Ala) c.1373A>C (p.Glu458Ala) c.1148A>C (p.Glu383Ala) c.1370A>C (p.Glu457Ala) c.1321+350A>C (n.1321+350A>C) c.1220A>C (p.Glu407Ala) c.1013A>C (p.Glu338Ala) c.800A>C (p.Glu267Ala) n.1038A>C | |
| X | g.154564370A>G | CA415219515 | IKBKG | c.1133A>G (p.Glu378Gly) c.1169A>G (p.Glu390Gly) c.767A>G (p.Glu256Gly) c.1016A>G (p.Glu339Gly) c.1226A>G (p.Glu409Gly) c.872A>G (p.Glu291Gly) c.*1161A>G (n.*1161A>G) c.1145A>G (p.Glu382Gly) c.1166A>G (p.Glu389Gly) c.1373A>G (p.Glu458Gly) c.1148A>G (p.Glu383Gly) c.1370A>G (p.Glu457Gly) c.1321+350A>G (n.1321+350A>G) c.1220A>G (p.Glu407Gly) c.1013A>G (p.Glu338Gly) c.800A>G (p.Glu267Gly) n.1038A>G | |
| X | g.154564370A>T | CA415219516 | IKBKG | c.1133A>T (p.Glu378Val) c.1169A>T (p.Glu390Val) c.767A>T (p.Glu256Val) c.1016A>T (p.Glu339Val) c.1226A>T (p.Glu409Val) c.872A>T (p.Glu291Val) c.*1161A>T (n.*1161A>T) c.1145A>T (p.Glu382Val) c.1166A>T (p.Glu389Val) c.1373A>T (p.Glu458Val) c.1148A>T (p.Glu383Val) c.1370A>T (p.Glu457Val) c.1321+350A>T (n.1321+350A>T) c.1220A>T (p.Glu407Val) c.1013A>T (p.Glu338Val) c.800A>T (p.Glu267Val) n.1038A>T | |
| X | g.154564371G>A | CA519287173 | IKBKG | c.1134G>A (p.Glu378=) c.1170G>A (p.Glu390=) c.768G>A (p.Glu256=) c.1017G>A (p.Glu339=) c.1227G>A (p.Glu409=) c.873G>A (p.Glu291=) c.*1162G>A (n.*1162G>A) c.1146G>A (p.Glu382=) c.1167G>A (p.Glu389=) c.1374G>A (p.Glu458=) c.1149G>A (p.Glu383=) c.1371G>A (p.Glu457=) c.1321+351G>A (n.1321+351G>A) c.1221G>A (p.Glu407=) c.1014G>A (p.Glu338=) c.801G>A (p.Glu267=) n.1039G>A | |
| X | g.154564371G>C | CA415219517 | IKBKG | c.1134G>C (p.Glu378Asp) c.1170G>C (p.Glu390Asp) c.768G>C (p.Glu256Asp) c.1017G>C (p.Glu339Asp) c.1227G>C (p.Glu409Asp) c.873G>C (p.Glu291Asp) c.*1162G>C (n.*1162G>C) c.1146G>C (p.Glu382Asp) c.1167G>C (p.Glu389Asp) c.1374G>C (p.Glu458Asp) c.1149G>C (p.Glu383Asp) c.1371G>C (p.Glu457Asp) c.1321+351G>C (n.1321+351G>C) c.1221G>C (p.Glu407Asp) c.1014G>C (p.Glu338Asp) c.801G>C (p.Glu267Asp) n.1039G>C | |
| X | g.154564371G>T | CA415219518 | IKBKG | c.1134G>T (p.Glu378Asp) c.1170G>T (p.Glu390Asp) c.768G>T (p.Glu256Asp) c.1017G>T (p.Glu339Asp) c.1227G>T (p.Glu409Asp) c.873G>T (p.Glu291Asp) c.*1162G>T (n.*1162G>T) c.1146G>T (p.Glu382Asp) c.1167G>T (p.Glu389Asp) c.1374G>T (p.Glu458Asp) c.1149G>T (p.Glu383Asp) c.1371G>T (p.Glu457Asp) c.1321+351G>T (n.1321+351G>T) c.1221G>T (p.Glu407Asp) c.1014G>T (p.Glu338Asp) c.801G>T (p.Glu267Asp) n.1039G>T | |
| X | g.154564372G>A | CA415219519 | IKBKG | c.1135G>A (p.Glu379Lys) c.1171G>A (p.Glu391Lys) c.769G>A (p.Glu257Lys) c.1018G>A (p.Glu340Lys) c.1228G>A (p.Glu410Lys) c.874G>A (p.Glu292Lys) c.*1163G>A (n.*1163G>A) c.1147G>A (p.Glu383Lys) c.1168G>A (p.Glu390Lys) c.1375G>A (p.Glu459Lys) c.1150G>A (p.Glu384Lys) c.1372G>A (p.Glu458Lys) c.1321+352G>A (n.1321+352G>A) c.1222G>A (p.Glu408Lys) c.1015G>A (p.Glu339Lys) c.802G>A (p.Glu268Lys) n.1040G>A | |
| X | g.154564372G>C | CA415219521 | IKBKG | c.1135G>C (p.Glu379Gln) c.1171G>C (p.Glu391Gln) c.769G>C (p.Glu257Gln) c.1018G>C (p.Glu340Gln) c.1228G>C (p.Glu410Gln) c.874G>C (p.Glu292Gln) c.*1163G>C (n.*1163G>C) c.1147G>C (p.Glu383Gln) c.1168G>C (p.Glu390Gln) c.1375G>C (p.Glu459Gln) c.1150G>C (p.Glu384Gln) c.1372G>C (p.Glu458Gln) c.1321+352G>C (n.1321+352G>C) c.1222G>C (p.Glu408Gln) c.1015G>C (p.Glu339Gln) c.802G>C (p.Glu268Gln) n.1040G>C | |
| X | g.154564372G= | CA2466734039 | IKBKG | c.1135G= (p.Glu379=) c.1171G= (p.Glu391=) c.769G= (p.Glu257=) c.1018G= (p.Glu340=) c.1228G= (p.Glu410=) c.874G= (p.Glu292=) c.*1163G= (n.*1163G=) c.1147G= (p.Glu383=) c.1168G= (p.Glu390=) c.1375G= (p.Glu459=) c.1150G= (p.Glu384=) c.1372G= (p.Glu458=) c.1321+352G= (n.1321+352G=) c.1222G= (p.Glu408=) c.1015G= (p.Glu339=) c.802G= (p.Glu268=) n.1040G= | |
| X | g.154564372G>T | CA121470 | IKBKG | c.1135G>T (p.Glu379Ter) c.1171G>T (p.Glu391Ter) c.769G>T (p.Glu257Ter) c.1018G>T (p.Glu340Ter) c.1228G>T (p.Glu410Ter) c.874G>T (p.Glu292Ter) c.*1163G>T (n.*1163G>T) c.1147G>T (p.Glu383Ter) c.1168G>T (p.Glu390Ter) c.1375G>T (p.Glu459Ter) c.1150G>T (p.Glu384Ter) c.1372G>T (p.Glu458Ter) c.1321+352G>T (n.1321+352G>T) c.1222G>T (p.Glu408Ter) c.1015G>T (p.Glu339Ter) c.802G>T (p.Glu268Ter) n.1040G>T | ClinVar dbSNP |
| X | g.154564373A>C | CA415219530 | IKBKG | c.1136A>C (p.Glu379Ala) c.1172A>C (p.Glu391Ala) c.770A>C (p.Glu257Ala) c.1019A>C (p.Glu340Ala) c.1229A>C (p.Glu410Ala) c.875A>C (p.Glu292Ala) c.*1164A>C (n.*1164A>C) c.1148A>C (p.Glu383Ala) c.1169A>C (p.Glu390Ala) c.1376A>C (p.Glu459Ala) c.1151A>C (p.Glu384Ala) c.1373A>C (p.Glu458Ala) c.1321+353A>C (n.1321+353A>C) c.1223A>C (p.Glu408Ala) c.1016A>C (p.Glu339Ala) c.803A>C (p.Glu268Ala) n.1041A>C |