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.11106498_11114133del | CA404079331 | LDLR | c.953-67_1844+371del c.695-67_1586+371del c.695-67_1466+371del c.949-67_1840+371del c.314-894_1082+371del c.572-67_1463+371del c.314-67_1205+371del n.845-67_1736+371del n.812-67_1703+371del | ClinVar |
| 19 | g.11111514_11116998del | CA10585283 | LDLR | c.1319_2103del c.1061_1705+786del c.941_1725del c.1061_1845del c.1315_2099del c.557_1341del c.938_1722del c.680_1464del n.1211_1855+786del n.1178_1962del n.1178_1822+786del | |
| 19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
| 19 | g.11113268_11113363dup | CA16609813 | LDLR | c.1445-10_1530dup c.1187-10_1272dup c.1067-10_1152dup c.1441-10_1526dup c.683-10_768dup c.1064-10_1149dup c.806-10_891dup n.186-10_271dup c.667-10_752dup n.1337-10_1422dup n.1304-10_1389dup | ClinVar dbSNP |
| 19 | g.11113289_11113307del | CA2695238665 | LDLR | c.1456_1474del (p.Tyr486GlyfsTer7) c.1198_1216del (p.Tyr400GlyfsTer7) c.1078_1096del (p.Tyr360GlyfsTer7) c.1452_1470del c.694_712del (p.Tyr232GlyfsTer7) c.1075_1093del (p.Tyr359GlyfsTer7) c.817_835del (p.Tyr273GlyfsTer7) n.197_215del c.678_696del n.1348_1366del n.1315_1333del | |
| 19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
| 19 | g.11113302_11113305delinsTCAC | CA2695228163 | LDLR | c.1469_1472delinsTCAC (p.Thr490_Asn491delinsIleThr) c.1211_1214delinsTCAC (p.Thr404_Asn405delinsIleThr) c.1091_1094delinsTCAC (p.Thr364_Asn365delinsIleThr) c.1465_1468delinsTCAC c.707_710delinsTCAC (p.Thr236_Asn237delinsIleThr) c.1088_1091delinsTCAC (p.Thr363_Asn364delinsIleThr) c.830_833delinsTCAC (p.Thr277_Asn278delinsIleThr) n.210_213delinsTCAC c.691_694delinsTCAC n.1361_1364delinsTCAC n.1328_1331delinsTCAC | |
| 19 | g.11113304A= | CA2322771704 | LDLR | c.1471A= (p.Asn491=) c.1213A= (p.Asn405=) c.1093A= (p.Asn365=) c.1467A= c.709A= (p.Asn237=) c.1090A= (p.Asn364=) c.832A= (p.Asn278=) n.212A= c.693A= n.1363A= n.1330A= | |
| 19 | g.11113304A>C | CA404084700 | LDLR | c.1471A>C (p.Asn491His) c.1213A>C (p.Asn405His) c.1093A>C (p.Asn365His) c.1467A>C c.709A>C (p.Asn237His) c.1090A>C (p.Asn364His) c.832A>C (p.Asn278His) n.212A>C c.693A>C n.1363A>C n.1330A>C | |
| 19 | g.11113304A>G | CA404084701 | LDLR | c.1471A>G (p.Asn491Asp) c.1213A>G (p.Asn405Asp) c.1093A>G (p.Asn365Asp) c.1467A>G c.709A>G (p.Asn237Asp) c.1090A>G (p.Asn364Asp) c.832A>G (p.Asn278Asp) n.212A>G c.693A>G n.1363A>G n.1330A>G | |
| 19 | g.11113304A>T | CA404084702 | LDLR | c.1471A>T (p.Asn491Tyr) c.1213A>T (p.Asn405Tyr) c.1093A>T (p.Asn365Tyr) c.1467A>T c.709A>T (p.Asn237Tyr) c.1090A>T (p.Asn364Tyr) c.832A>T (p.Asn278Tyr) n.212A>T c.693A>T n.1363A>T n.1330A>T | |
| 19 | g.11113305A= | CA2322771705 | LDLR | c.1472A= (p.Asn491=) c.1214A= (p.Asn405=) c.1094A= (p.Asn365=) c.1468A= c.710A= (p.Asn237=) c.1091A= (p.Asn364=) c.833A= (p.Asn278=) n.213A= c.694A= n.1364A= n.1331A= | |
| 19 | g.11113305A>C | CA10585361 | LDLR | c.1472A>C (p.Asn491Thr) c.1214A>C (p.Asn405Thr) c.1094A>C (p.Asn365Thr) c.1468A>C c.710A>C (p.Asn237Thr) c.1091A>C (p.Asn364Thr) c.833A>C (p.Asn278Thr) n.213A>C c.694A>C n.1364A>C n.1331A>C | ClinVar dbSNP |
| 19 | g.11113305A>G | CA404084703 | LDLR | c.1472A>G (p.Asn491Ser) c.1214A>G (p.Asn405Ser) c.1094A>G (p.Asn365Ser) c.1468A>G c.710A>G (p.Asn237Ser) c.1091A>G (p.Asn364Ser) c.833A>G (p.Asn278Ser) n.213A>G c.694A>G n.1364A>G n.1331A>G | ClinVar |
| 19 | g.11113305A>T | CA404084704 | LDLR | c.1472A>T (p.Asn491Ile) c.1214A>T (p.Asn405Ile) c.1094A>T (p.Asn365Ile) c.1468A>T c.710A>T (p.Asn237Ile) c.1091A>T (p.Asn364Ile) c.833A>T (p.Asn278Ile) n.213A>T c.694A>T n.1364A>T n.1331A>T | ClinVar dbSNP |
| 19 | g.11113305_11113307del | CA2497030060 | LDLR | c.1472_1474del (p.Asn491del) c.1214_1216del (p.Asn405del) c.1094_1096del (p.Asn365del) c.1468_1470del c.710_712del (p.Asn237del) c.1091_1093del (p.Asn364del) c.833_835del (p.Asn278del) n.213_215del c.694_696del n.1364_1366del n.1331_1333del | |
| 19 | g.11113305_11113308dup | CA913188986 | LDLR | c.1472_1475dup (p.His493ProfsTer?) c.1214_1217dup (p.His407ProfsTer?) c.1094_1097dup (p.His367ProfsTer?) c.1468_1471dup c.710_713dup (p.His239ProfsTer?) c.1091_1094dup (p.His366ProfsTer?) c.833_836dup (p.His280ProfsTer?) n.213_216dup c.694_697dup n.1364_1367dup n.1331_1334dup | ClinVar dbSNP |
| 19 | g.11113306C>A | CA404084705 | LDLR | c.1473C>A (p.Asn491Lys) c.1215C>A (p.Asn405Lys) c.1095C>A (p.Asn365Lys) c.1469C>A c.711C>A (p.Asn237Lys) c.1092C>A (p.Asn364Lys) c.834C>A (p.Asn278Lys) n.214C>A c.695C>A n.1365C>A n.1332C>A | ClinVar |
| 19 | g.11113306C= | CA2322771706 | LDLR | c.1473C= (p.Asn491=) c.1215C= (p.Asn405=) c.1095C= (p.Asn365=) c.1469C= c.711C= (p.Asn237=) c.1092C= (p.Asn364=) c.834C= (p.Asn278=) n.214C= c.695C= n.1365C= n.1332C= | |
| 19 | g.11113306C>G | CA10585362 | LDLR | c.1473C>G (p.Asn491Lys) c.1215C>G (p.Asn405Lys) c.1095C>G (p.Asn365Lys) c.1469C>G c.711C>G (p.Asn237Lys) c.1092C>G (p.Asn364Lys) c.834C>G (p.Asn278Lys) n.214C>G c.695C>G n.1365C>G n.1332C>G | ClinVar dbSNP |
| 19 | g.11113306C>T | CA505743133 | LDLR | c.1473C>T (p.Asn491=) c.1215C>T (p.Asn405=) c.1095C>T (p.Asn365=) c.1469C>T c.711C>T (p.Asn237=) c.1092C>T (p.Asn364=) c.834C>T (p.Asn278=) n.214C>T c.695C>T n.1365C>T n.1332C>T | ClinVar dbSNP |
| 19 | g.11113307del | CA2695228165 | LDLR | c.1474del (p.Arg492GlyfsTer7) c.1216del (p.Arg406GlyfsTer7) c.1096del (p.Arg366GlyfsTer7) c.1470del c.712del (p.Arg238GlyfsTer7) c.1093del (p.Arg365GlyfsTer7) c.835del (p.Arg279GlyfsTer7) n.215del c.696del n.1366del n.1333del | |
| 19 | g.11113307C>A | CA023436 | LDLR | c.1474C>A (p.Arg492=) c.1216C>A (p.Arg406=) c.1096C>A (p.Arg366=) c.1470C>A c.712C>A (p.Arg238=) c.1093C>A (p.Arg365=) c.835C>A (p.Arg279=) n.215C>A c.696C>A n.1366C>A n.1333C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11113307C= | CA2322771707 | LDLR | c.1474C= (p.Arg492=) c.1216C= (p.Arg406=) c.1096C= (p.Arg366=) c.1470C= c.712C= (p.Arg238=) c.1093C= (p.Arg365=) c.835C= (p.Arg279=) n.215C= c.696C= n.1366C= n.1333C= | |
| 19 | g.11113307C>G | CA404084706 | LDLR | c.1474C>G (p.Arg492Gly) c.1216C>G (p.Arg406Gly) c.1096C>G (p.Arg366Gly) c.1470C>G c.712C>G (p.Arg238Gly) c.1093C>G (p.Arg365Gly) c.835C>G (p.Arg279Gly) n.215C>G c.696C>G n.1366C>G n.1333C>G | gnomAD v4 |
| 19 | g.11113307C>T | CA033073 | LDLR | c.1474C>T (p.Arg492Trp) c.1216C>T (p.Arg406Trp) c.1096C>T (p.Arg366Trp) c.1470C>T c.712C>T (p.Arg238Trp) c.1093C>T (p.Arg365Trp) c.835C>T (p.Arg279Trp) n.215C>T c.696C>T n.1366C>T n.1333C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113308G>A | CA033088 | LDLR | c.1475G>A (p.Arg492Gln) c.1217G>A (p.Arg406Gln) c.1097G>A (p.Arg366Gln) c.1471G>A c.713G>A (p.Arg238Gln) c.1094G>A (p.Arg365Gln) c.836G>A (p.Arg279Gln) n.216G>A c.697G>A n.1367G>A n.1334G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113308G>C | CA10576302 | LDLR | c.1475G>C (p.Arg492Pro) c.1217G>C (p.Arg406Pro) c.1097G>C (p.Arg366Pro) c.1471G>C c.713G>C (p.Arg238Pro) c.1094G>C (p.Arg365Pro) c.836G>C (p.Arg279Pro) n.216G>C c.697G>C n.1367G>C n.1334G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113308G= | CA2322771708 | LDLR | c.1475G= (p.Arg492=) c.1217G= (p.Arg406=) c.1097G= (p.Arg366=) c.1471G= c.713G= (p.Arg238=) c.1094G= (p.Arg365=) c.836G= (p.Arg279=) n.216G= c.697G= n.1367G= n.1334G= | |
| 19 | g.11113308G>T | CA404084707 | LDLR | c.1475G>T (p.Arg492Leu) c.1217G>T (p.Arg406Leu) c.1097G>T (p.Arg366Leu) c.1471G>T c.713G>T (p.Arg238Leu) c.1094G>T (p.Arg365Leu) c.836G>T (p.Arg279Leu) n.216G>T c.697G>T n.1367G>T n.1334G>T | |
| 19 | g.11113309G>A | CA505743136 | LDLR | c.1476G>A (p.Arg492=) c.1218G>A (p.Arg406=) c.1098G>A (p.Arg366=) c.1472G>A c.714G>A (p.Arg238=) c.1095G>A (p.Arg365=) c.837G>A (p.Arg279=) n.217G>A c.698G>A n.1368G>A n.1335G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113309G>C | CA505743135 | LDLR | c.1476G>C (p.Arg492=) c.1218G>C (p.Arg406=) c.1098G>C (p.Arg366=) c.1472G>C c.714G>C (p.Arg238=) c.1095G>C (p.Arg365=) c.837G>C (p.Arg279=) n.217G>C c.698G>C n.1368G>C n.1335G>C | gnomAD v3 gnomAD v4 |
| 19 | g.11113309G= | CA2322771709 | LDLR | c.1476G= (p.Arg492=) c.1218G= (p.Arg406=) c.1098G= (p.Arg366=) c.1472G= c.714G= (p.Arg238=) c.1095G= (p.Arg365=) c.837G= (p.Arg279=) n.217G= c.698G= n.1368G= n.1335G= | |
| 19 | g.11113309G>T | CA505743134 | LDLR | c.1476G>T (p.Arg492=) c.1218G>T (p.Arg406=) c.1098G>T (p.Arg366=) c.1472G>T c.714G>T (p.Arg238=) c.1095G>T (p.Arg365=) c.837G>T (p.Arg279=) n.217G>T c.698G>T n.1368G>T n.1335G>T | |
| 19 | g.11113310C>A | CA404084710 | LDLR | c.1477C>A (p.His493Asn) c.1219C>A (p.His407Asn) c.1099C>A (p.His367Asn) c.1473C>A c.715C>A (p.His239Asn) c.1096C>A (p.His366Asn) c.838C>A (p.His280Asn) n.218C>A c.699C>A n.1369C>A n.1336C>A | |
| 19 | g.11113310C>G | CA404084708 | LDLR | c.1477C>G (p.His493Asp) c.1219C>G (p.His407Asp) c.1099C>G (p.His367Asp) c.1473C>G c.715C>G (p.His239Asp) c.1096C>G (p.His366Asp) c.838C>G (p.His280Asp) n.218C>G c.699C>G n.1369C>G n.1336C>G | |
| 19 | g.11113310C>T | CA404084709 | LDLR | c.1477C>T (p.His493Tyr) c.1219C>T (p.His407Tyr) c.1099C>T (p.His367Tyr) c.1473C>T c.715C>T (p.His239Tyr) c.1096C>T (p.His366Tyr) c.838C>T (p.His280Tyr) n.218C>T c.699C>T n.1369C>T n.1336C>T | gnomAD v4 |
| 19 | g.11113311A>C | CA404084711 | LDLR | c.1478A>C (p.His493Pro) c.1220A>C (p.His407Pro) c.1100A>C (p.His367Pro) c.1474A>C c.716A>C (p.His239Pro) c.1097A>C (p.His366Pro) c.839A>C (p.His280Pro) n.219A>C c.700A>C n.1370A>C n.1337A>C | |
| 19 | g.11113311A>G | CA404084712 | LDLR | c.1478A>G (p.His493Arg) c.1220A>G (p.His407Arg) c.1100A>G (p.His367Arg) c.1474A>G c.716A>G (p.His239Arg) c.1097A>G (p.His366Arg) c.839A>G (p.His280Arg) n.219A>G c.700A>G n.1370A>G n.1337A>G | |
| 19 | g.11113311A>T | CA404084713 | LDLR | c.1478A>T (p.His493Leu) c.1220A>T (p.His407Leu) c.1100A>T (p.His367Leu) c.1474A>T c.716A>T (p.His239Leu) c.1097A>T (p.His366Leu) c.839A>T (p.His280Leu) n.219A>T c.700A>T n.1370A>T n.1337A>T | |
| 19 | g.11113312C>A | CA033103 | LDLR | c.1479C>A (p.His493Gln) c.1221C>A (p.His407Gln) c.1101C>A (p.His367Gln) c.1475C>A c.717C>A (p.His239Gln) c.1098C>A (p.His366Gln) c.840C>A (p.His280Gln) n.220C>A c.701C>A n.1371C>A n.1338C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113312C= | CA2322771710 | LDLR | c.1479C= (p.His493=) c.1221C= (p.His407=) c.1101C= (p.His367=) c.1475C= c.717C= (p.His239=) c.1098C= (p.His366=) c.840C= (p.His280=) n.220C= c.701C= n.1371C= n.1338C= | |
| 19 | g.11113312C>G | CA404084714 | LDLR | c.1479C>G (p.His493Gln) c.1221C>G (p.His407Gln) c.1101C>G (p.His367Gln) c.1475C>G c.717C>G (p.His239Gln) c.1098C>G (p.His366Gln) c.840C>G (p.His280Gln) n.220C>G c.701C>G n.1371C>G n.1338C>G | ClinVar gnomAD v4 |
| 19 | g.11113312C>T | CA505743141 | LDLR | c.1479C>T (p.His493=) c.1221C>T (p.His407=) c.1101C>T (p.His367=) c.1475C>T c.717C>T (p.His239=) c.1098C>T (p.His366=) c.840C>T (p.His280=) n.220C>T c.701C>T n.1371C>T n.1338C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11113312_11113313delinsT | CA2695228167 | LDLR | c.1479_1480delinsT (p.Glu494ArgfsTer5) c.1221_1222delinsT (p.Glu408ArgfsTer5) c.1101_1102delinsT (p.Glu368ArgfsTer5) c.1475_1476delinsT c.717_718delinsT (p.Glu240ArgfsTer5) c.1098_1099delinsT (p.Glu367ArgfsTer5) c.840_841delinsT (p.Glu281ArgfsTer5) n.220_221delinsT c.701_702delinsT n.1371_1372delinsT n.1338_1339delinsT | |
| 19 | g.11113313G>A | CA023437 | LDLR | c.1480G>A (p.Glu494Lys) c.1222G>A (p.Glu408Lys) c.1102G>A (p.Glu368Lys) c.1476G>A c.718G>A (p.Glu240Lys) c.1099G>A (p.Glu367Lys) c.841G>A (p.Glu281Lys) n.221G>A c.702G>A n.1372G>A n.1339G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.11113313G>C | CA16043073 | LDLR | c.1480G>C (p.Glu494Gln) c.1222G>C (p.Glu408Gln) c.1102G>C (p.Glu368Gln) c.1476G>C c.718G>C (p.Glu240Gln) c.1099G>C (p.Glu367Gln) c.841G>C (p.Glu281Gln) n.221G>C c.702G>C n.1372G>C n.1339G>C | ClinVar dbSNP |
| 19 | g.11113313G= | CA2322771711 | LDLR | c.1480G= (p.Glu494=) c.1222G= (p.Glu408=) c.1102G= (p.Glu368=) c.1476G= c.718G= (p.Glu240=) c.1099G= (p.Glu367=) c.841G= (p.Glu281=) n.221G= c.702G= n.1372G= n.1339G= | |
| 19 | g.11113313G>T | CA404084715 | LDLR | c.1480G>T (p.Glu494Ter) c.1222G>T (p.Glu408Ter) c.1102G>T (p.Glu368Ter) c.1476G>T c.718G>T (p.Glu240Ter) c.1099G>T (p.Glu367Ter) c.841G>T (p.Glu281Ter) n.221G>T c.702G>T n.1372G>T n.1339G>T | ClinVar dbSNP |
| 19 | g.11113314A= | CA2322771712 | LDLR | c.1481A= (p.Glu494=) c.1223A= (p.Glu408=) c.1103A= (p.Glu368=) c.1477A= c.719A= (p.Glu240=) c.1100A= (p.Glu367=) c.842A= (p.Glu281=) n.222A= c.703A= n.1373A= n.1340A= |