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 |
|---|---|---|---|---|---|
| 19 | g.18069534_18069543del | CA2583510270 | IL12RB1 | c.1189+12_1189+21del (n.1189+12_1189+21del) c.1309+12_1309+21del (n.1309+12_1309+21del) c.1342+12_1342+21del (n.1342+12_1342+21del) c.1330+12_1330+21del (n.1330+12_1330+21del) c.1321+12_1321+21del (n.1321+12_1321+21del) c.1222+12_1222+21del (n.1222+12_1222+21del) c.1210+12_1210+21del (n.1210+12_1210+21del) c.607+12_607+21del (n.607+12_607+21del) | gnomAD v4 |
| 19 | g.18069541A= | CA2326169813 | IL12RB1 | c.1189+5T= (n.1189+5T=) c.1309+5T= (n.1309+5T=) c.1342+5T= (n.1342+5T=) c.1330+5T= (n.1330+5T=) c.1321+5T= (n.1321+5T=) c.1222+5T= (n.1222+5T=) c.1210+5T= (n.1210+5T=) c.607+5T= (n.607+5T=) | |
| 19 | g.18069541A>C | CA2583510285 | IL12RB1 | c.1189+5T>G (n.1189+5T>G) c.1309+5T>G (n.1309+5T>G) c.1342+5T>G (n.1342+5T>G) c.1330+5T>G (n.1330+5T>G) c.1321+5T>G (n.1321+5T>G) c.1222+5T>G (n.1222+5T>G) c.1210+5T>G (n.1210+5T>G) c.607+5T>G (n.607+5T>G) | gnomAD v4 |
| 19 | g.18069541A>G | CA2326169814 | IL12RB1 | c.1189+5T>C (n.1189+5T>C) c.1309+5T>C (n.1309+5T>C) c.1342+5T>C (n.1342+5T>C) c.1330+5T>C (n.1330+5T>C) c.1321+5T>C (n.1321+5T>C) c.1222+5T>C (n.1222+5T>C) c.1210+5T>C (n.1210+5T>C) c.607+5T>C (n.607+5T>C) | dbSNP gnomAD v4 |
| 19 | g.18069542T>C | CA2326169816 | IL12RB1 | c.1189+4A>G (n.1189+4A>G) c.1309+4A>G (n.1309+4A>G) c.1342+4A>G (n.1342+4A>G) c.1330+4A>G (n.1330+4A>G) c.1321+4A>G (n.1321+4A>G) c.1222+4A>G (n.1222+4A>G) c.1210+4A>G (n.1210+4A>G) c.607+4A>G (n.607+4A>G) | dbSNP |
| 19 | g.18069542T= | CA2326169815 | IL12RB1 | c.1189+4A= (n.1189+4A=) c.1309+4A= (n.1309+4A=) c.1342+4A= (n.1342+4A=) c.1330+4A= (n.1330+4A=) c.1321+4A= (n.1321+4A=) c.1222+4A= (n.1222+4A=) c.1210+4A= (n.1210+4A=) c.607+4A= (n.607+4A=) | |
| 19 | g.18069543T>C | CA632136929 | IL12RB1 | c.1189+3A>G (n.1189+3A>G) c.1309+3A>G (n.1309+3A>G) c.1342+3A>G (n.1342+3A>G) c.1330+3A>G (n.1330+3A>G) c.1321+3A>G (n.1321+3A>G) c.1222+3A>G (n.1222+3A>G) c.1210+3A>G (n.1210+3A>G) c.607+3A>G (n.607+3A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069543T= | CA2326169817 | IL12RB1 | c.1189+3A= (n.1189+3A=) c.1309+3A= (n.1309+3A=) c.1342+3A= (n.1342+3A=) c.1330+3A= (n.1330+3A=) c.1321+3A= (n.1321+3A=) c.1222+3A= (n.1222+3A=) c.1210+3A= (n.1210+3A=) c.607+3A= (n.607+3A=) | |
| 19 | g.18069544A= | CA2326169818 | IL12RB1 | c.1189+2T= (n.1189+2T=) c.1309+2T= (n.1309+2T=) c.1342+2T= (n.1342+2T=) c.1330+2T= (n.1330+2T=) c.1321+2T= (n.1321+2T=) c.1222+2T= (n.1222+2T=) c.1210+2T= (n.1210+2T=) c.607+2T= (n.607+2T=) | |
| 19 | g.18069544A>C | CA404778409 | IL12RB1 | c.1189+2T>G (n.1189+2T>G) c.1309+2T>G (n.1309+2T>G) c.1342+2T>G (n.1342+2T>G) c.1330+2T>G (n.1330+2T>G) c.1321+2T>G (n.1321+2T>G) c.1222+2T>G (n.1222+2T>G) c.1210+2T>G (n.1210+2T>G) c.607+2T>G (n.607+2T>G) | |
| 19 | g.18069544A>G | CA404778408 | IL12RB1 | c.1189+2T>C (n.1189+2T>C) c.1309+2T>C (n.1309+2T>C) c.1342+2T>C (n.1342+2T>C) c.1330+2T>C (n.1330+2T>C) c.1321+2T>C (n.1321+2T>C) c.1222+2T>C (n.1222+2T>C) c.1210+2T>C (n.1210+2T>C) c.607+2T>C (n.607+2T>C) | |
| 19 | g.18069544A>T | CA404778406 | IL12RB1 | c.1189+2T>A (n.1189+2T>A) c.1309+2T>A (n.1309+2T>A) c.1342+2T>A (n.1342+2T>A) c.1330+2T>A (n.1330+2T>A) c.1321+2T>A (n.1321+2T>A) c.1222+2T>A (n.1222+2T>A) c.1210+2T>A (n.1210+2T>A) c.607+2T>A (n.607+2T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069545C>A | CA404778411 | IL12RB1 | c.1189+1G>T (n.1189+1G>T) c.1309+1G>T (n.1309+1G>T) c.1342+1G>T (n.1342+1G>T) c.1330+1G>T (n.1330+1G>T) c.1321+1G>T (n.1321+1G>T) c.1222+1G>T (n.1222+1G>T) c.1210+1G>T (n.1210+1G>T) c.607+1G>T (n.607+1G>T) | |
| 19 | g.18069545C>G | CA404778413 | IL12RB1 | c.1189+1G>C (n.1189+1G>C) c.1309+1G>C (n.1309+1G>C) c.1342+1G>C (n.1342+1G>C) c.1330+1G>C (n.1330+1G>C) c.1321+1G>C (n.1321+1G>C) c.1222+1G>C (n.1222+1G>C) c.1210+1G>C (n.1210+1G>C) c.607+1G>C (n.607+1G>C) | |
| 19 | g.18069545C>T | CA404778415 | IL12RB1 | c.1189+1G>A (n.1189+1G>A) c.1309+1G>A (n.1309+1G>A) c.1342+1G>A (n.1342+1G>A) c.1330+1G>A (n.1330+1G>A) c.1321+1G>A (n.1321+1G>A) c.1222+1G>A (n.1222+1G>A) c.1210+1G>A (n.1210+1G>A) c.607+1G>A (n.607+1G>A) | gnomAD v4 |
| 19 | g.18069546C>A | CA404778416 | IL12RB1 | c.1189G>T (p.Ala397Ser) c.1309G>T (p.Ala437Ser) c.1342G>T (p.Ala448Ser) c.1330G>T (p.Ala444Ser) c.1321G>T (p.Ala441Ser) c.1222G>T (p.Ala408Ser) c.1210G>T (p.Ala404Ser) c.607G>T (p.Ala203Ser) | |
| 19 | g.18069546C>G | CA404778418 | IL12RB1 | c.1189G>C (p.Ala397Pro) c.1309G>C (p.Ala437Pro) c.1342G>C (p.Ala448Pro) c.1330G>C (p.Ala444Pro) c.1321G>C (p.Ala441Pro) c.1222G>C (p.Ala408Pro) c.1210G>C (p.Ala404Pro) c.607G>C (p.Ala203Pro) | |
| 19 | g.18069546C>T | CA404778420 | IL12RB1 | c.1189G>A (p.Ala397Thr) c.1309G>A (p.Ala437Thr) c.1342G>A (p.Ala448Thr) c.1330G>A (p.Ala444Thr) c.1321G>A (p.Ala441Thr) c.1222G>A (p.Ala408Thr) c.1210G>A (p.Ala404Thr) c.607G>A (p.Ala203Thr) | COSMIC COSMIC |
| 19 | g.18069547C>A | CA404778421 | IL12RB1 | c.1188G>T (p.Met396Ile) c.1308G>T (p.Met436Ile) c.1341G>T (p.Met447Ile) c.1329G>T (p.Met443Ile) c.1320G>T (p.Met440Ile) c.1221G>T (p.Met407Ile) c.1209G>T (p.Met403Ile) c.606G>T (p.Met202Ile) | |
| 19 | g.18069547C>G | CA404778424 | IL12RB1 | c.1188G>C (p.Met396Ile) c.1308G>C (p.Met436Ile) c.1341G>C (p.Met447Ile) c.1329G>C (p.Met443Ile) c.1320G>C (p.Met440Ile) c.1221G>C (p.Met407Ile) c.1209G>C (p.Met403Ile) c.606G>C (p.Met202Ile) | |
| 19 | g.18069547C>T | CA404778422 | IL12RB1 | c.1188G>A (p.Met396Ile) c.1308G>A (p.Met436Ile) c.1341G>A (p.Met447Ile) c.1329G>A (p.Met443Ile) c.1320G>A (p.Met440Ile) c.1221G>A (p.Met407Ile) c.1209G>A (p.Met403Ile) c.606G>A (p.Met202Ile) | gnomAD v4 |
| 19 | g.18069548A= | CA2326169819 | IL12RB1 | c.1187T= (p.Met396=) c.1307T= (p.Met436=) c.1340T= (p.Met447=) c.1328T= (p.Met443=) c.1319T= (p.Met440=) c.1220T= (p.Met407=) c.1208T= (p.Met403=) c.605T= (p.Met202=) | |
| 19 | g.18069548A>C | CA404778426 | IL12RB1 | c.1187T>G (p.Met396Arg) c.1307T>G (p.Met436Arg) c.1340T>G (p.Met447Arg) c.1328T>G (p.Met443Arg) c.1319T>G (p.Met440Arg) c.1220T>G (p.Met407Arg) c.1208T>G (p.Met403Arg) c.605T>G (p.Met202Arg) | |
| 19 | g.18069548A>G | CA404778428 | IL12RB1 | c.1187T>C (p.Met396Thr) c.1307T>C (p.Met436Thr) c.1340T>C (p.Met447Thr) c.1328T>C (p.Met443Thr) c.1319T>C (p.Met440Thr) c.1220T>C (p.Met407Thr) c.1208T>C (p.Met403Thr) c.605T>C (p.Met202Thr) | dbSNP gnomAD v4 |
| 19 | g.18069548A>T | CA404778429 | IL12RB1 | c.1187T>A (p.Met396Lys) c.1307T>A (p.Met436Lys) c.1340T>A (p.Met447Lys) c.1328T>A (p.Met443Lys) c.1319T>A (p.Met440Lys) c.1220T>A (p.Met407Lys) c.1208T>A (p.Met403Lys) c.605T>A (p.Met202Lys) | COSMIC COSMIC |
| 19 | g.18069549T>A | CA404778431 | IL12RB1 | c.1186A>T (p.Met396Leu) c.1306A>T (p.Met436Leu) c.1339A>T (p.Met447Leu) c.1327A>T (p.Met443Leu) c.1318A>T (p.Met440Leu) c.1219A>T (p.Met407Leu) c.1207A>T (p.Met403Leu) c.604A>T (p.Met202Leu) | |
| 19 | g.18069549T>C | CA404778433 | IL12RB1 | c.1186A>G (p.Met396Val) c.1306A>G (p.Met436Val) c.1339A>G (p.Met447Val) c.1327A>G (p.Met443Val) c.1318A>G (p.Met440Val) c.1219A>G (p.Met407Val) c.1207A>G (p.Met403Val) c.604A>G (p.Met202Val) | |
| 19 | g.18069549T>G | CA404778434 | IL12RB1 | c.1186A>C (p.Met396Leu) c.1306A>C (p.Met436Leu) c.1339A>C (p.Met447Leu) c.1327A>C (p.Met443Leu) c.1318A>C (p.Met440Leu) c.1219A>C (p.Met407Leu) c.1207A>C (p.Met403Leu) c.604A>C (p.Met202Leu) | |
| 19 | g.18069550T>A | CA506030048 | IL12RB1 | c.1185A>T (p.Gly395=) c.1305A>T (p.Gly435=) c.1338A>T (p.Gly446=) c.1326A>T (p.Gly442=) c.1317A>T (p.Gly439=) c.1218A>T (p.Gly406=) c.1206A>T (p.Gly402=) c.603A>T (p.Gly201=) | |
| 19 | g.18069550T>C | CA506030049 | IL12RB1 | c.1185A>G (p.Gly395=) c.1305A>G (p.Gly435=) c.1338A>G (p.Gly446=) c.1326A>G (p.Gly442=) c.1317A>G (p.Gly439=) c.1218A>G (p.Gly406=) c.1206A>G (p.Gly402=) c.603A>G (p.Gly201=) | |
| 19 | g.18069550T>G | CA9304937 | IL12RB1 | c.1185A>C (p.Gly395=) c.1305A>C (p.Gly435=) c.1338A>C (p.Gly446=) c.1326A>C (p.Gly442=) c.1317A>C (p.Gly439=) c.1218A>C (p.Gly406=) c.1206A>C (p.Gly402=) c.603A>C (p.Gly201=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069550T= | CA2326169820 | IL12RB1 | c.1185A= (p.Gly395=) c.1305A= (p.Gly435=) c.1338A= (p.Gly446=) c.1326A= (p.Gly442=) c.1317A= (p.Gly439=) c.1218A= (p.Gly406=) c.1206A= (p.Gly402=) c.603A= (p.Gly201=) | |
| 19 | g.18069551C>A | CA404778437 | IL12RB1 | c.1184G>T (p.Gly395Val) c.1304G>T (p.Gly435Val) c.1337G>T (p.Gly446Val) c.1325G>T (p.Gly442Val) c.1316G>T (p.Gly439Val) c.1217G>T (p.Gly406Val) c.1205G>T (p.Gly402Val) c.602G>T (p.Gly201Val) | gnomAD v4 |
| 19 | g.18069551C>G | CA404778438 | IL12RB1 | c.1184G>C (p.Gly395Ala) c.1304G>C (p.Gly435Ala) c.1337G>C (p.Gly446Ala) c.1325G>C (p.Gly442Ala) c.1316G>C (p.Gly439Ala) c.1217G>C (p.Gly406Ala) c.1205G>C (p.Gly402Ala) c.602G>C (p.Gly201Ala) | |
| 19 | g.18069551C>T | CA404778440 | IL12RB1 | c.1184G>A (p.Gly395Glu) c.1304G>A (p.Gly435Glu) c.1337G>A (p.Gly446Glu) c.1325G>A (p.Gly442Glu) c.1316G>A (p.Gly439Glu) c.1217G>A (p.Gly406Glu) c.1205G>A (p.Gly402Glu) c.602G>A (p.Gly201Glu) | |
| 19 | g.18069552C>A | CA404778445 | IL12RB1 | c.1183G>T (p.Gly395Ter) c.1303G>T (p.Gly435Ter) c.1336G>T (p.Gly446Ter) c.1324G>T (p.Gly442Ter) c.1315G>T (p.Gly439Ter) c.1216G>T (p.Gly406Ter) c.1204G>T (p.Gly402Ter) c.601G>T (p.Gly201Ter) | |
| 19 | g.18069552C= | CA2326169821 | IL12RB1 | c.1183G= (p.Gly395=) c.1303G= (p.Gly435=) c.1336G= (p.Gly446=) c.1324G= (p.Gly442=) c.1315G= (p.Gly439=) c.1216G= (p.Gly406=) c.1204G= (p.Gly402=) c.601G= (p.Gly201=) | |
| 19 | g.18069552C>G | CA404778443 | IL12RB1 | c.1183G>C (p.Gly395Arg) c.1303G>C (p.Gly435Arg) c.1336G>C (p.Gly446Arg) c.1324G>C (p.Gly442Arg) c.1315G>C (p.Gly439Arg) c.1216G>C (p.Gly406Arg) c.1204G>C (p.Gly402Arg) c.601G>C (p.Gly201Arg) | |
| 19 | g.18069552C>T | CA404778442 | IL12RB1 | c.1183G>A (p.Gly395Arg) c.1303G>A (p.Gly435Arg) c.1336G>A (p.Gly446Arg) c.1324G>A (p.Gly442Arg) c.1315G>A (p.Gly439Arg) c.1216G>A (p.Gly406Arg) c.1204G>A (p.Gly402Arg) c.601G>A (p.Gly201Arg) | dbSNP gnomAD v2 |
| 19 | g.18069553A= | CA2326169822 | IL12RB1 | c.1182T= (p.Ala394=) c.1302T= (p.Ala434=) c.1335T= (p.Ala445=) c.1323T= (p.Ala441=) c.1314T= (p.Ala438=) c.1215T= (p.Ala405=) c.1203T= (p.Ala401=) c.600T= (p.Ala200=) | |
| 19 | g.18069553A>C | CA506030052 | IL12RB1 | c.1182T>G (p.Ala394=) c.1302T>G (p.Ala434=) c.1335T>G (p.Ala445=) c.1323T>G (p.Ala441=) c.1314T>G (p.Ala438=) c.1215T>G (p.Ala405=) c.1203T>G (p.Ala401=) c.600T>G (p.Ala200=) | gnomAD v4 |
| 19 | g.18069553A>G | CA506030053 | IL12RB1 | c.1182T>C (p.Ala394=) c.1302T>C (p.Ala434=) c.1335T>C (p.Ala445=) c.1323T>C (p.Ala441=) c.1314T>C (p.Ala438=) c.1215T>C (p.Ala405=) c.1203T>C (p.Ala401=) c.600T>C (p.Ala200=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069553A>T | CA506030054 | IL12RB1 | c.1182T>A (p.Ala394=) c.1302T>A (p.Ala434=) c.1335T>A (p.Ala445=) c.1323T>A (p.Ala441=) c.1314T>A (p.Ala438=) c.1215T>A (p.Ala405=) c.1203T>A (p.Ala401=) c.600T>A (p.Ala200=) | |
| 19 | g.18069554G>A | CA404778446 | IL12RB1 | c.1181C>T (p.Ala394Val) c.1301C>T (p.Ala434Val) c.1334C>T (p.Ala445Val) c.1322C>T (p.Ala441Val) c.1313C>T (p.Ala438Val) c.1214C>T (p.Ala405Val) c.1202C>T (p.Ala401Val) c.599C>T (p.Ala200Val) | gnomAD v4 |
| 19 | g.18069554G>C | CA404778448 | IL12RB1 | c.1181C>G (p.Ala394Gly) c.1301C>G (p.Ala434Gly) c.1334C>G (p.Ala445Gly) c.1322C>G (p.Ala441Gly) c.1313C>G (p.Ala438Gly) c.1214C>G (p.Ala405Gly) c.1202C>G (p.Ala401Gly) c.599C>G (p.Ala200Gly) | |
| 19 | g.18069554G>T | CA404778449 | IL12RB1 | c.1181C>A (p.Ala394Asp) c.1301C>A (p.Ala434Asp) c.1334C>A (p.Ala445Asp) c.1322C>A (p.Ala441Asp) c.1313C>A (p.Ala438Asp) c.1214C>A (p.Ala405Asp) c.1202C>A (p.Ala401Asp) c.599C>A (p.Ala200Asp) | gnomAD v4 |
| 19 | g.18069555C>A | CA404778451 | IL12RB1 | c.1180G>T (p.Ala394Ser) c.1300G>T (p.Ala434Ser) c.1333G>T (p.Ala445Ser) c.1321G>T (p.Ala441Ser) c.1312G>T (p.Ala438Ser) c.1213G>T (p.Ala405Ser) c.1201G>T (p.Ala401Ser) c.598G>T (p.Ala200Ser) | |
| 19 | g.18069555C>G | CA404778453 | IL12RB1 | c.1180G>C (p.Ala394Pro) c.1300G>C (p.Ala434Pro) c.1333G>C (p.Ala445Pro) c.1321G>C (p.Ala441Pro) c.1312G>C (p.Ala438Pro) c.1213G>C (p.Ala405Pro) c.1201G>C (p.Ala401Pro) c.598G>C (p.Ala200Pro) | |
| 19 | g.18069555C>T | CA404778454 | IL12RB1 | c.1180G>A (p.Ala394Thr) c.1300G>A (p.Ala434Thr) c.1333G>A (p.Ala445Thr) c.1321G>A (p.Ala441Thr) c.1312G>A (p.Ala438Thr) c.1213G>A (p.Ala405Thr) c.1201G>A (p.Ala401Thr) c.598G>A (p.Ala200Thr) | gnomAD v4 |
| 19 | g.18069556C>A | CA506030060 | IL12RB1 | c.1179G>T (p.Pro393=) c.1299G>T (p.Pro433=) c.1332G>T (p.Pro444=) c.1320G>T (p.Pro440=) c.1311G>T (p.Pro437=) c.1212G>T (p.Pro404=) c.1200G>T (p.Pro400=) c.597G>T (p.Pro199=) |