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.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.11113537_11113540del | CA2580096437 | LDLR | c.1619_1622del (p.Thr540SerfsTer?) c.1361_1364del (p.Thr454SerfsTer?) c.1241_1244del (p.Thr414SerfsTer?) c.1615_1618del c.857_860del (p.Thr286SerfsTer?) c.1238_1241del (p.Thr413SerfsTer?) c.980_983del (p.Thr327SerfsTer?) c.82_85del c.841_844del n.1511_1514del n.1478_1481del | ClinVar |
| 19 | g.11113539del | CA10585427 | LDLR | c.1621del (p.Gln541SerfsTer?) c.1363del (p.Gln455SerfsTer?) c.1243del (p.Gln415SerfsTer?) c.1617del c.859del (p.Gln287SerfsTer?) c.1240del (p.Gln414SerfsTer?) c.982del (p.Gln328SerfsTer?) c.84del c.843del n.1513del n.1480del | ClinVar dbSNP |
| 19 | g.11113539C>A | CA404085562 | LDLR | c.1621C>A (p.Gln541Lys) c.1363C>A (p.Gln455Lys) c.1243C>A (p.Gln415Lys) c.1617C>A c.859C>A (p.Gln287Lys) c.1240C>A (p.Gln414Lys) c.982C>A (p.Gln328Lys) c.84C>A c.843C>A n.1513C>A n.1480C>A | |
| 19 | g.11113539C= | CA2322771876 | LDLR | c.1621C= (p.Gln541=) c.1363C= (p.Gln455=) c.1243C= (p.Gln415=) c.1617C= c.859C= (p.Gln287=) c.1240C= (p.Gln414=) c.982C= (p.Gln328=) c.84C= c.843C= n.1513C= n.1480C= | |
| 19 | g.11113539C>G | CA404085564 | LDLR | c.1621C>G (p.Gln541Glu) c.1363C>G (p.Gln455Glu) c.1243C>G (p.Gln415Glu) c.1617C>G c.859C>G (p.Gln287Glu) c.1240C>G (p.Gln414Glu) c.982C>G (p.Gln328Glu) c.84C>G c.843C>G n.1513C>G n.1480C>G | |
| 19 | g.11113539C>T | CA10585426 | LDLR | c.1621C>T (p.Gln541Ter) c.1363C>T (p.Gln455Ter) c.1243C>T (p.Gln415Ter) c.1617C>T c.859C>T (p.Gln287Ter) c.1240C>T (p.Gln414Ter) c.982C>T (p.Gln328Ter) c.84C>T c.843C>T n.1513C>T n.1480C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113539_11113549delinsCAGCTTGACAG | CA2322771877 | LDLR | c.1621_1631delinsCAGCTTGACAG (p.Gln541=) c.1363_1373delinsCAGCTTGACAG (p.Gln455=) c.1243_1253delinsCAGCTTGACAG (p.Gln415=) c.1617_1627delinsCAGCTTGACAG c.859_869delinsCAGCTTGACAG (p.Gln287=) c.1240_1250delinsCAGCTTGACAG (p.Gln414=) c.982_992delinsCAGCTTGACAG (p.Gln328=) c.84_94delinsCAGCTTGACAG c.843_853delinsCAGCTTGACAG n.1513_1523delinsCAGCTTGACAG n.1480_1490delinsCAGCTTGACAG | |
| 19 | g.11113540A>C | CA404085569 | LDLR | c.1622A>C (p.Gln541Pro) c.1364A>C (p.Gln455Pro) c.1244A>C (p.Gln415Pro) c.1618A>C c.860A>C (p.Gln287Pro) c.1241A>C (p.Gln414Pro) c.983A>C (p.Gln328Pro) c.85A>C c.844A>C n.1514A>C n.1481A>C | |
| 19 | g.11113540A>G | CA404085572 | LDLR | c.1622A>G (p.Gln541Arg) c.1364A>G (p.Gln455Arg) c.1244A>G (p.Gln415Arg) c.1618A>G c.860A>G (p.Gln287Arg) c.1241A>G (p.Gln414Arg) c.983A>G (p.Gln328Arg) c.85A>G c.844A>G n.1514A>G n.1481A>G | |
| 19 | g.11113540A>T | CA404085574 | LDLR | c.1622A>T (p.Gln541Leu) c.1364A>T (p.Gln455Leu) c.1244A>T (p.Gln415Leu) c.1618A>T c.860A>T (p.Gln287Leu) c.1241A>T (p.Gln414Leu) c.983A>T (p.Gln328Leu) c.85A>T c.844A>T n.1514A>T n.1481A>T | |
| 19 | g.11113540_11113541delinsAG | CA2322771878 | LDLR | c.1622_1623delinsAG (p.Gln541=) c.1364_1365delinsAG (p.Gln455=) c.1244_1245delinsAG (p.Gln415=) c.1618_1619delinsAG c.860_861delinsAG (p.Gln287=) c.1241_1242delinsAG (p.Gln414=) c.983_984delinsAG (p.Gln328=) c.85_86delinsAG c.844_845delinsAG n.1514_1515delinsAG n.1481_1482delinsAG | |
| 19 | g.11113543_11113552del | CA10585430 | LDLR | c.1625_1634del (p.Leu542ProfsTer?) c.1367_1376del (p.Leu456ProfsTer?) c.1247_1256del (p.Leu416ProfsTer?) c.1621_1630del c.863_872del (p.Leu288ProfsTer?) c.1244_1253del (p.Leu415ProfsTer?) c.986_995del (p.Leu329ProfsTer?) c.88_97del c.847_856del n.1517_1526del n.1484_1493del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113541del | CA10585428 | LDLR | c.1623del (p.Gln541HisfsTer?) c.1365del (p.Gln455HisfsTer?) c.1245del (p.Gln415HisfsTer?) c.1619del c.861del (p.Gln287HisfsTer?) c.1242del (p.Gln414HisfsTer?) c.984del (p.Gln328HisfsTer?) c.86del c.845del n.1515del n.1482del | ClinVar dbSNP |
| 19 | g.11113541G>A | CA505743036 | LDLR | c.1623G>A (p.Gln541=) c.1365G>A (p.Gln455=) c.1245G>A (p.Gln415=) c.1619G>A c.861G>A (p.Gln287=) c.1242G>A (p.Gln414=) c.984G>A (p.Gln328=) c.86G>A c.845G>A n.1515G>A n.1482G>A | |
| 19 | g.11113541G>C | CA404085577 | LDLR | c.1623G>C (p.Gln541His) c.1365G>C (p.Gln455His) c.1245G>C (p.Gln415His) c.1619G>C c.861G>C (p.Gln287His) c.1242G>C (p.Gln414His) c.984G>C (p.Gln328His) c.86G>C c.845G>C n.1515G>C n.1482G>C | |
| 19 | g.11113541G>T | CA404085579 | LDLR | c.1623G>T (p.Gln541His) c.1365G>T (p.Gln455His) c.1245G>T (p.Gln415His) c.1619G>T c.861G>T (p.Gln287His) c.1242G>T (p.Gln414His) c.984G>T (p.Gln328His) c.86G>T c.845G>T n.1515G>T n.1482G>T | |
| 19 | g.11113542C>A | CA404085583 | LDLR | c.1624C>A (p.Leu542Ile) c.1366C>A (p.Leu456Ile) c.1246C>A (p.Leu416Ile) c.1620C>A c.862C>A (p.Leu288Ile) c.1243C>A (p.Leu415Ile) c.985C>A (p.Leu329Ile) c.87C>A c.846C>A n.1516C>A n.1483C>A | |
| 19 | g.11113542C= | CA2322771879 | LDLR | c.1624C= (p.Leu542=) c.1366C= (p.Leu456=) c.1246C= (p.Leu416=) c.1620C= c.862C= (p.Leu288=) c.1243C= (p.Leu415=) c.985C= (p.Leu329=) c.87C= c.846C= n.1516C= n.1483C= | |
| 19 | g.11113542C>G | CA404085585 | LDLR | c.1624C>G (p.Leu542Val) c.1366C>G (p.Leu456Val) c.1246C>G (p.Leu416Val) c.1620C>G c.862C>G (p.Leu288Val) c.1243C>G (p.Leu415Val) c.985C>G (p.Leu329Val) c.87C>G c.846C>G n.1516C>G n.1483C>G | |
| 19 | g.11113542C>T | CA034017 | LDLR | c.1624C>T (p.Leu542Phe) c.1366C>T (p.Leu456Phe) c.1246C>T (p.Leu416Phe) c.1620C>T c.862C>T (p.Leu288Phe) c.1243C>T (p.Leu415Phe) c.985C>T (p.Leu329Phe) c.87C>T c.846C>T n.1516C>T n.1483C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113543T>A | CA10585429 | LDLR | c.1625T>A (p.Leu542His) c.1367T>A (p.Leu456His) c.1247T>A (p.Leu416His) c.1621T>A c.863T>A (p.Leu288His) c.1244T>A (p.Leu415His) c.986T>A (p.Leu329His) c.88T>A c.847T>A n.1517T>A n.1484T>A | ClinVar dbSNP |
| 19 | g.11113543T>C | CA305300092 | LDLR | c.1625T>C (p.Leu542Pro) c.1367T>C (p.Leu456Pro) c.1247T>C (p.Leu416Pro) c.1621T>C c.863T>C (p.Leu288Pro) c.1244T>C (p.Leu415Pro) c.986T>C (p.Leu329Pro) c.88T>C c.847T>C n.1517T>C n.1484T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113543T>G | CA404085589 | LDLR | c.1625T>G (p.Leu542Arg) c.1367T>G (p.Leu456Arg) c.1247T>G (p.Leu416Arg) c.1621T>G c.863T>G (p.Leu288Arg) c.1244T>G (p.Leu415Arg) c.986T>G (p.Leu329Arg) c.88T>G c.847T>G n.1517T>G n.1484T>G | |
| 19 | g.11113543T= | CA2322771880 | LDLR | c.1625T= (p.Leu542=) c.1367T= (p.Leu456=) c.1247T= (p.Leu416=) c.1621T= c.863T= (p.Leu288=) c.1244T= (p.Leu415=) c.986T= (p.Leu329=) c.88T= c.847T= n.1517T= n.1484T= | |
| 19 | g.11113544T>A | CA505743037 | LDLR | c.1626T>A (p.Leu542=) c.1368T>A (p.Leu456=) c.1248T>A (p.Leu416=) c.1622T>A c.864T>A (p.Leu288=) c.1245T>A (p.Leu415=) c.987T>A (p.Leu329=) c.89T>A c.848T>A n.1518T>A n.1485T>A | ClinVar dbSNP |
| 19 | g.11113544T>C | CA505743038 | LDLR | c.1626T>C (p.Leu542=) c.1368T>C (p.Leu456=) c.1248T>C (p.Leu416=) c.1622T>C c.864T>C (p.Leu288=) c.1245T>C (p.Leu415=) c.987T>C (p.Leu329=) c.89T>C c.848T>C n.1518T>C n.1485T>C | |
| 19 | g.11113544T>G | CA505743039 | LDLR | c.1626T>G (p.Leu542=) c.1368T>G (p.Leu456=) c.1248T>G (p.Leu416=) c.1622T>G c.864T>G (p.Leu288=) c.1245T>G (p.Leu415=) c.987T>G (p.Leu329=) c.89T>G c.848T>G n.1518T>G n.1485T>G | |
| 19 | g.11113544T= | CA2322771881 | LDLR | c.1626T= (p.Leu542=) c.1368T= (p.Leu456=) c.1248T= (p.Leu416=) c.1622T= c.864T= (p.Leu288=) c.1245T= (p.Leu415=) c.987T= (p.Leu329=) c.89T= c.848T= n.1518T= n.1485T= | |
| 19 | g.11113545G>A | CA404085593 | LDLR | c.1627G>A (p.Asp543Asn) c.1369G>A (p.Asp457Asn) c.1249G>A (p.Asp417Asn) c.1623G>A c.865G>A (p.Asp289Asn) c.1246G>A (p.Asp416Asn) c.988G>A (p.Asp330Asn) c.90G>A c.849G>A n.1519G>A n.1486G>A | |
| 19 | g.11113545G>C | CA404085595 | LDLR | c.1627G>C (p.Asp543His) c.1369G>C (p.Asp457His) c.1249G>C (p.Asp417His) c.1623G>C c.865G>C (p.Asp289His) c.1246G>C (p.Asp416His) c.988G>C (p.Asp330His) c.90G>C c.849G>C n.1519G>C n.1486G>C | ClinVar gnomAD v4 |
| 19 | g.11113545G>T | CA404085596 | LDLR | c.1627G>T (p.Asp543Tyr) c.1369G>T (p.Asp457Tyr) c.1249G>T (p.Asp417Tyr) c.1623G>T c.865G>T (p.Asp289Tyr) c.1246G>T (p.Asp416Tyr) c.988G>T (p.Asp330Tyr) c.90G>T c.849G>T n.1519G>T n.1486G>T | |
| 19 | g.11113547_11113550dup | CA10576305 | LDLR | c.1629_1632dup (p.Ala545GlnfsTer9) c.1371_1374dup (p.Ala459GlnfsTer9) c.1251_1254dup (p.Ala419GlnfsTer9) c.1625_1628dup c.867_870dup (p.Ala291GlnfsTer9) c.1248_1251dup (p.Ala418GlnfsTer9) c.990_993dup (p.Ala332GlnfsTer9) c.92_95dup c.851_854dup n.1521_1524dup n.1488_1491dup | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113546A>C | CA404085598 | LDLR | c.1628A>C (p.Asp543Ala) c.1370A>C (p.Asp457Ala) c.1250A>C (p.Asp417Ala) c.1624A>C c.866A>C (p.Asp289Ala) c.1247A>C (p.Asp416Ala) c.989A>C (p.Asp330Ala) c.91A>C c.850A>C n.1520A>C n.1487A>C | |
| 19 | g.11113546A>G | CA404085600 | LDLR | c.1628A>G (p.Asp543Gly) c.1370A>G (p.Asp457Gly) c.1250A>G (p.Asp417Gly) c.1624A>G c.866A>G (p.Asp289Gly) c.1247A>G (p.Asp416Gly) c.989A>G (p.Asp330Gly) c.91A>G c.850A>G n.1520A>G n.1487A>G | ClinVar |
| 19 | g.11113546A>T | CA404085601 | LDLR | c.1628A>T (p.Asp543Val) c.1370A>T (p.Asp457Val) c.1250A>T (p.Asp417Val) c.1624A>T c.866A>T (p.Asp289Val) c.1247A>T (p.Asp416Val) c.989A>T (p.Asp330Val) c.91A>T c.850A>T n.1520A>T n.1487A>T | |
| 19 | g.11113547C>A | CA404085602 | LDLR | c.1629C>A (p.Asp543Glu) c.1371C>A (p.Asp457Glu) c.1251C>A (p.Asp417Glu) c.1625C>A c.867C>A (p.Asp289Glu) c.1248C>A (p.Asp416Glu) c.990C>A (p.Asp330Glu) c.92C>A c.851C>A n.1521C>A n.1488C>A | |
| 19 | g.11113547C= | CA2322771883 | LDLR | c.1629C= (p.Asp543=) c.1371C= (p.Asp457=) c.1251C= (p.Asp417=) c.1625C= c.867C= (p.Asp289=) c.1248C= (p.Asp416=) c.990C= (p.Asp330=) c.92C= c.851C= n.1521C= n.1488C= | |
| 19 | g.11113547C>G | CA404085603 | LDLR | c.1629C>G (p.Asp543Glu) c.1371C>G (p.Asp457Glu) c.1251C>G (p.Asp417Glu) c.1625C>G c.867C>G (p.Asp289Glu) c.1248C>G (p.Asp416Glu) c.990C>G (p.Asp330Glu) c.92C>G c.851C>G n.1521C>G n.1488C>G | |
| 19 | g.11113547C>T | CA505743040 | LDLR | c.1629C>T (p.Asp543=) c.1371C>T (p.Asp457=) c.1251C>T (p.Asp417=) c.1625C>T c.867C>T (p.Asp289=) c.1248C>T (p.Asp416=) c.990C>T (p.Asp330=) c.92C>T c.851C>T n.1521C>T n.1488C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113547_11113549delinsCAG | CA2322771882 | LDLR | c.1629_1631delinsCAG (p.Asp543=) c.1371_1373delinsCAG (p.Asp457=) c.1251_1253delinsCAG (p.Asp417=) c.1625_1627delinsCAG c.867_869delinsCAG (p.Asp289=) c.1248_1250delinsCAG (p.Asp416=) c.990_992delinsCAG (p.Asp330=) c.92_94delinsCAG c.851_853delinsCAG n.1521_1523delinsCAG n.1488_1490delinsCAG | |
| 19 | g.11113548A= | CA2322771885 | LDLR | c.1630A= (p.Arg544=) c.1372A= (p.Arg458=) c.1252A= (p.Arg418=) c.1626A= c.868A= (p.Arg290=) c.1249A= (p.Arg417=) c.991A= (p.Arg331=) c.93A= c.852A= n.1522A= n.1489A= | |
| 19 | g.11113548A>C | CA505743041 | LDLR | c.1630A>C (p.Arg544=) c.1372A>C (p.Arg458=) c.1252A>C (p.Arg418=) c.1626A>C c.868A>C (p.Arg290=) c.1249A>C (p.Arg417=) c.991A>C (p.Arg331=) c.93A>C c.852A>C n.1522A>C n.1489A>C | |
| 19 | g.11113548A>G | CA404085605 | LDLR | c.1630A>G (p.Arg544Gly) c.1372A>G (p.Arg458Gly) c.1252A>G (p.Arg418Gly) c.1626A>G c.868A>G (p.Arg290Gly) c.1249A>G (p.Arg417Gly) c.991A>G (p.Arg331Gly) c.93A>G c.852A>G n.1522A>G n.1489A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113548A>T | CA404085607 | LDLR | c.1630A>T (p.Arg544Ter) c.1372A>T (p.Arg458Ter) c.1252A>T (p.Arg418Ter) c.1626A>T c.868A>T (p.Arg290Ter) c.1249A>T (p.Arg417Ter) c.991A>T (p.Arg331Ter) c.93A>T c.852A>T n.1522A>T n.1489A>T | |
| 19 | g.11113548dup | CA2497030063 | LDLR | c.1630dup (p.Arg544LysfsTer9) c.1372dup (p.Arg458LysfsTer9) c.1252dup (p.Arg418LysfsTer9) c.1626dup c.868dup (p.Arg290LysfsTer9) c.1249dup (p.Arg417LysfsTer9) c.991dup (p.Arg331LysfsTer9) c.93dup c.852dup n.1522dup n.1489dup | |
| 19 | g.11113550_11113551del | CA10585431 | LDLR | c.1632_1633del (p.Arg544SerfsTer8) c.1374_1375del (p.Arg458SerfsTer8) c.1254_1255del (p.Arg418SerfsTer8) c.1628_1629del c.870_871del (p.Arg290SerfsTer8) c.1251_1252del (p.Arg417SerfsTer8) c.993_994del (p.Arg331SerfsTer8) c.95_96del c.854_855del n.1524_1525del n.1491_1492del | ClinVar dbSNP |