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 |
|---|---|---|---|---|---|
| 5 | g.96398925T>A | CA360478939 | PCSK1 | c.1542A>T (p.Glu514Asp) c.1401A>T (p.Glu467Asp) n.685A>T n.354+19273T>A | |
| 5 | g.96398925T>C | CA445491592 | PCSK1 | c.1542A>G (p.Glu514=) c.1401A>G (p.Glu467=) n.685A>G n.354+19273T>C | |
| 5 | g.96398925T>G | CA360478940 | PCSK1 | c.1542A>C (p.Glu514Asp) c.1401A>C (p.Glu467Asp) n.685A>C n.354+19273T>G | |
| 5 | g.96398926T>A | CA360478941 | PCSK1 | c.1541A>T (p.Glu514Val) c.1400A>T (p.Glu467Val) n.684A>T n.354+19274T>A | |
| 5 | g.96398926T>C | CA360478942 | PCSK1 | c.1541A>G (p.Glu514Gly) c.1400A>G (p.Glu467Gly) n.684A>G n.354+19274T>C | |
| 5 | g.96398926T>G | CA360478943 | PCSK1 | c.1541A>C (p.Glu514Ala) c.1400A>C (p.Glu467Ala) n.684A>C n.354+19274T>G | |
| 5 | g.96398927C>A | CA360478944 | PCSK1 | c.1540G>T (p.Glu514Ter) c.1399G>T (p.Glu467Ter) n.683G>T n.354+19275C>A | |
| 5 | g.96398927C>G | CA360478945 | PCSK1 | c.1540G>C (p.Glu514Gln) c.1399G>C (p.Glu467Gln) n.683G>C n.354+19275C>G | |
| 5 | g.96398927C>T | CA360478946 | PCSK1 | c.1540G>A (p.Glu514Lys) c.1399G>A (p.Glu467Lys) n.683G>A n.354+19275C>T | |
| 5 | g.96398928A>C | CA360478947 | PCSK1 | c.1539T>G (p.Ile513Met) c.1398T>G (p.Ile466Met) n.682T>G n.354+19276A>C | |
| 5 | g.96398928A>G | CA445491593 | PCSK1 | c.1539T>C (p.Ile513=) c.1398T>C (p.Ile466=) n.682T>C n.354+19276A>G | gnomAD v4 |
| 5 | g.96398928A>T | CA445491594 | PCSK1 | c.1539T>A (p.Ile513=) c.1398T>A (p.Ile466=) n.682T>A n.354+19276A>T | |
| 5 | g.96398929A= | CA1565404411 | PCSK1 | c.1538T= (p.Ile513=) c.1397T= (p.Ile466=) n.681T= n.354+19277A= | |
| 5 | g.96398929A>C | CA360478948 | PCSK1 | c.1538T>G (p.Ile513Ser) c.1397T>G (p.Ile466Ser) n.681T>G n.354+19277A>C | |
| 5 | g.96398929A>G | CA360478949 | PCSK1 | c.1538T>C (p.Ile513Thr) c.1397T>C (p.Ile466Thr) n.681T>C n.354+19277A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96398929A>T | CA360478950 | PCSK1 | c.1538T>A (p.Ile513Asn) c.1397T>A (p.Ile466Asn) n.681T>A n.354+19277A>T | |
| 5 | g.96398930T>A | CA360478951 | PCSK1 | c.1537A>T (p.Ile513Phe) c.1396A>T (p.Ile466Phe) n.680A>T n.354+19278T>A | |
| 5 | g.96398930T>C | CA360478952 | PCSK1 | c.1537A>G (p.Ile513Val) c.1396A>G (p.Ile466Val) n.680A>G n.354+19278T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96398930T>G | CA360478953 | PCSK1 | c.1537A>C (p.Ile513Leu) c.1396A>C (p.Ile466Leu) n.680A>C n.354+19278T>G | |
| 5 | g.96398930T= | CA1565404412 | PCSK1 | c.1537A= (p.Ile513=) c.1396A= (p.Ile466=) n.680A= n.354+19278T= | |
| 5 | g.96398931T>A | CA122904257 | PCSK1 | c.1536A>T (p.Thr512=) c.1395A>T (p.Thr465=) n.679A>T n.354+19279T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398931T>C | CA122904265 | PCSK1 | c.1536A>G (p.Thr512=) c.1395A>G (p.Thr465=) n.679A>G n.354+19279T>C | dbSNP |
| 5 | g.96398931T>G | CA445491595 | PCSK1 | c.1536A>C (p.Thr512=) c.1395A>C (p.Thr465=) n.679A>C n.354+19279T>G | |
| 5 | g.96398931T= | CA1565404413 | PCSK1 | c.1536A= (p.Thr512=) c.1395A= (p.Thr465=) n.679A= n.354+19279T= | |
| 5 | g.96398932G>A | CA360478956 | PCSK1 | c.1535C>T (p.Thr512Ile) c.1394C>T (p.Thr465Ile) n.678C>T n.354+19280G>A | gnomAD v4 |
| 5 | g.96398932G>C | CA360478955 | PCSK1 | c.1535C>G (p.Thr512Arg) c.1394C>G (p.Thr465Arg) n.678C>G n.354+19280G>C | |
| 5 | g.96398932G>T | CA360478954 | PCSK1 | c.1535C>A (p.Thr512Lys) c.1394C>A (p.Thr465Lys) n.678C>A n.354+19280G>T | |
| 5 | g.96398933T>A | CA360478957 | PCSK1 | c.1534A>T (p.Thr512Ser) c.1393A>T (p.Thr465Ser) n.677A>T n.354+19281T>A | |
| 5 | g.96398933T>C | CA360478958 | PCSK1 | c.1534A>G (p.Thr512Ala) c.1393A>G (p.Thr465Ala) n.677A>G n.354+19281T>C | |
| 5 | g.96398933T>G | CA360478959 | PCSK1 | c.1534A>C (p.Thr512Pro) c.1393A>C (p.Thr465Pro) n.677A>C n.354+19281T>G | |
| 5 | g.96398934T>A | CA445491596 | PCSK1 | c.1533A>T (p.Ala511=) c.1392A>T (p.Ala464=) n.676A>T n.354+19282T>A | |
| 5 | g.96398934T>C | CA445491597 | PCSK1 | c.1533A>G (p.Ala511=) c.1392A>G (p.Ala464=) n.676A>G n.354+19282T>C | |
| 5 | g.96398934T>G | CA445491598 | PCSK1 | c.1533A>C (p.Ala511=) c.1392A>C (p.Ala464=) n.676A>C n.354+19282T>G | |
| 5 | g.96398935G>A | CA360478960 | PCSK1 | c.1532C>T (p.Ala511Val) c.1391C>T (p.Ala464Val) n.675C>T n.354+19283G>A | |
| 5 | g.96398935G>C | CA360478961 | PCSK1 | c.1532C>G (p.Ala511Gly) c.1391C>G (p.Ala464Gly) n.675C>G n.354+19283G>C | |
| 5 | g.96398935G>T | CA360478962 | PCSK1 | c.1532C>A (p.Ala511Glu) c.1391C>A (p.Ala464Glu) n.675C>A n.354+19283G>T | |
| 5 | g.96398936C>A | CA360478963 | PCSK1 | c.1531G>T (p.Ala511Ser) c.1390G>T (p.Ala464Ser) n.674G>T n.354+19284C>A | |
| 5 | g.96398936C>G | CA360478964 | PCSK1 | c.1531G>C (p.Ala511Pro) c.1390G>C (p.Ala464Pro) n.674G>C n.354+19284C>G | |
| 5 | g.96398936C>T | CA360478965 | PCSK1 | c.1531G>A (p.Ala511Thr) c.1390G>A (p.Ala464Thr) n.674G>A n.354+19284C>T | |
| 5 | g.96398937T>A | CA360478966 | PCSK1 | c.1530A>T (p.Glu510Asp) c.1389A>T (p.Glu463Asp) n.673A>T n.354+19285T>A | |
| 5 | g.96398937T>C | CA445491599 | PCSK1 | c.1530A>G (p.Glu510=) c.1389A>G (p.Glu463=) n.673A>G n.354+19285T>C | |
| 5 | g.96398937T>G | CA360478967 | PCSK1 | c.1530A>C (p.Glu510Asp) c.1389A>C (p.Glu463Asp) n.673A>C n.354+19285T>G | |
| 5 | g.96398938del | CA2709555186 | PCSK1 | c.1530del (p.Ala511GlnfsTer?) c.1389del (p.Ala464GlnfsTer?) n.673del n.354+19286del | dbSNP |
| 5 | g.96398938T>A | CA360478968 | PCSK1 | c.1529A>T (p.Glu510Val) c.1388A>T (p.Glu463Val) n.672A>T n.354+19286T>A | |
| 5 | g.96398938T>C | CA360478969 | PCSK1 | c.1529A>G (p.Glu510Gly) c.1388A>G (p.Glu463Gly) n.672A>G n.354+19286T>C | |
| 5 | g.96398938T>G | CA360478970 | PCSK1 | c.1529A>C (p.Glu510Ala) c.1388A>C (p.Glu463Ala) n.672A>C n.354+19286T>G | |
| 5 | g.96398938_96398939insTTGTTTATTCATAGAA | CA2564674870 | PCSK1 | c.1528_1529insTTCTATGAATAAACAA (p.Glu510ValfsTer3) c.1387_1388insTTCTATGAATAAACAA (p.Glu463ValfsTer3) n.671_672insTTCTATGAATAAACAA n.354+19286_354+19287insTTGTTTATTCATAGAA | |
| 5 | g.96398939C>A | CA360478971 | PCSK1 | c.1528G>T (p.Glu510Ter) c.1387G>T (p.Glu463Ter) n.671G>T n.354+19287C>A | |
| 5 | g.96398939C= | CA1565404414 | PCSK1 | c.1528G= (p.Glu510=) c.1387G= (p.Glu463=) n.671G= n.354+19287C= | |
| 5 | g.96398939C>G | CA360478972 | PCSK1 | c.1528G>C (p.Glu510Gln) c.1387G>C (p.Glu463Gln) n.671G>C n.354+19287C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96398939C>T | CA122904271 | PCSK1 | c.1528G>A (p.Glu510Lys) c.1387G>A (p.Glu463Lys) n.671G>A n.354+19287C>T | dbSNP |
| 5 | g.96398940A>C | CA360478973 | PCSK1 | c.1527T>G (p.Phe509Leu) c.1386T>G (p.Phe462Leu) n.670T>G n.354+19288A>C | |
| 5 | g.96398940A>G | CA445491600 | PCSK1 | c.1527T>C (p.Phe509=) c.1386T>C (p.Phe462=) n.670T>C n.354+19288A>G | |
| 5 | g.96398940A>T | CA360478974 | PCSK1 | c.1527T>A (p.Phe509Leu) c.1386T>A (p.Phe462Leu) n.670T>A n.354+19288A>T | |
| 5 | g.96398941A>C | CA360478975 | PCSK1 | c.1526T>G (p.Phe509Cys) c.1385T>G (p.Phe462Cys) n.669T>G n.354+19289A>C | |
| 5 | g.96398941A>G | CA360478976 | PCSK1 | c.1526T>C (p.Phe509Ser) c.1385T>C (p.Phe462Ser) n.669T>C n.354+19289A>G | |
| 5 | g.96398941A>T | CA360478977 | PCSK1 | c.1526T>A (p.Phe509Tyr) c.1385T>A (p.Phe462Tyr) n.669T>A n.354+19289A>T | |
| 5 | g.96398942A>C | CA360478978 | PCSK1 | c.1525T>G (p.Phe509Val) c.1384T>G (p.Phe462Val) n.668T>G n.354+19290A>C | |
| 5 | g.96398942A>G | CA360478979 | PCSK1 | c.1525T>C (p.Phe509Leu) c.1384T>C (p.Phe462Leu) n.668T>C n.354+19290A>G | gnomAD v4 |
| 5 | g.96398942A>T | CA360478980 | PCSK1 | c.1525T>A (p.Phe509Ile) c.1384T>A (p.Phe462Ile) n.668T>A n.354+19290A>T | |
| 5 | g.96398943T>A | CA360478981 | PCSK1 | c.1524A>T (p.Gln508His) c.1383A>T (p.Gln461His) n.667A>T n.354+19291T>A | |
| 5 | g.96398943T>C | CA122904281 | PCSK1 | c.1524A>G (p.Gln508=) c.1383A>G (p.Gln461=) n.667A>G n.354+19291T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398943T>G | CA360478982 | PCSK1 | c.1524A>C (p.Gln508His) c.1383A>C (p.Gln461His) n.667A>C n.354+19291T>G | |
| 5 | g.96398943T= | CA1565404415 | PCSK1 | c.1524A= (p.Gln508=) c.1383A= (p.Gln461=) n.667A= n.354+19291T= | |
| 5 | g.96398944T>A | CA360478983 | PCSK1 | c.1523A>T (p.Gln508Leu) c.1382A>T (p.Gln461Leu) n.666A>T n.354+19292T>A | |
| 5 | g.96398944T>C | CA360478984 | PCSK1 | c.1523A>G (p.Gln508Arg) c.1382A>G (p.Gln461Arg) n.666A>G n.354+19292T>C | |
| 5 | g.96398944T>G | CA360478985 | PCSK1 | c.1523A>C (p.Gln508Pro) c.1382A>C (p.Gln461Pro) n.666A>C n.354+19292T>G | |
| 5 | g.96398945del | CA2674665172 | PCSK1 | c.1522del (p.Gln508AsnfsTer?) c.1381del (p.Gln461AsnfsTer?) n.665del n.354+19293del | gnomAD v4 |
| 5 | g.96398945G>A | CA122904307 | PCSK1 | c.1522C>T (p.Gln508Ter) c.1381C>T (p.Gln461Ter) n.665C>T n.354+19293G>A | dbSNP gnomAD v4 |
| 5 | g.96398945G>C | CA360478986 | PCSK1 | c.1522C>G (p.Gln508Glu) c.1381C>G (p.Gln461Glu) n.665C>G n.354+19293G>C | |
| 5 | g.96398945G= | CA1565404416 | PCSK1 | c.1522C= (p.Gln508=) c.1381C= (p.Gln461=) n.665C= n.354+19293G= | |
| 5 | g.96398945G>T | CA360478987 | PCSK1 | c.1522C>A (p.Gln508Lys) c.1381C>A (p.Gln461Lys) n.665C>A n.354+19293G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398946T>A | CA445491601 | PCSK1 | c.1521A>T (p.Val507=) c.1380A>T (p.Val460=) n.664A>T n.354+19294T>A | |
| 5 | g.96398946T>C | CA445491602 | PCSK1 | c.1521A>G (p.Val507=) c.1380A>G (p.Val460=) n.664A>G n.354+19294T>C | gnomAD v4 |
| 5 | g.96398946T>G | CA445491603 | PCSK1 | c.1521A>C (p.Val507=) c.1380A>C (p.Val460=) n.664A>C n.354+19294T>G | gnomAD v4 |
| 5 | g.96398947A>C | CA360478988 | PCSK1 | c.1520T>G (p.Val507Gly) c.1379T>G (p.Val460Gly) n.663T>G n.354+19295A>C | |
| 5 | g.96398947A>G | CA360478989 | PCSK1 | c.1520T>C (p.Val507Ala) c.1379T>C (p.Val460Ala) n.663T>C n.354+19295A>G | |
| 5 | g.96398947A>T | CA360478990 | PCSK1 | c.1520T>A (p.Val507Glu) c.1379T>A (p.Val460Glu) n.663T>A n.354+19295A>T | |
| 5 | g.96398948C>A | CA360478991 | PCSK1 | c.1519G>T (p.Val507Leu) c.1378G>T (p.Val460Leu) n.662G>T n.354+19296C>A | |
| 5 | g.96398948C>G | CA360478992 | PCSK1 | c.1519G>C (p.Val507Leu) c.1378G>C (p.Val460Leu) n.662G>C n.354+19296C>G | |
| 5 | g.96398948C>T | CA360478993 | PCSK1 | c.1519G>A (p.Val507Ile) c.1378G>A (p.Val460Ile) n.662G>A n.354+19296C>T | |
| 5 | g.96398949A= | CA1565404417 | PCSK1 | c.1518T= (p.His506=) c.1377T= (p.His459=) n.661T= n.354+19297A= | |
| 5 | g.96398949A>C | CA360478994 | PCSK1 | c.1518T>G (p.His506Gln) c.1377T>G (p.His459Gln) n.661T>G n.354+19297A>C | |
| 5 | g.96398949A>G | CA445491604 | PCSK1 | c.1518T>C (p.His506=) c.1377T>C (p.His459=) n.661T>C n.354+19297A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.96398949A>T | CA122904314 | PCSK1 | c.1518T>A (p.His506Gln) c.1377T>A (p.His459Gln) n.661T>A n.354+19297A>T | dbSNP |
| 5 | g.96398950T>A | CA360478995 | PCSK1 | c.1517A>T (p.His506Leu) c.1376A>T (p.His459Leu) n.660A>T n.354+19298T>A | |
| 5 | g.96398950T>C | CA360478996 | PCSK1 | c.1517A>G (p.His506Arg) c.1376A>G (p.His459Arg) n.660A>G n.354+19298T>C | |
| 5 | g.96398950T>G | CA360478997 | PCSK1 | c.1517A>C (p.His506Pro) c.1376A>C (p.His459Pro) n.660A>C n.354+19298T>G | |
| 5 | g.96398951G>A | CA360478998 | PCSK1 | c.1516C>T (p.His506Tyr) c.1375C>T (p.His459Tyr) n.659C>T n.354+19299G>A | |
| 5 | g.96398951G>C | CA360479000 | PCSK1 | c.1516C>G (p.His506Asp) c.1375C>G (p.His459Asp) n.659C>G n.354+19299G>C | |
| 5 | g.96398951G>T | CA360478999 | PCSK1 | c.1516C>A (p.His506Asn) c.1375C>A (p.His459Asn) n.659C>A n.354+19299G>T | COSMIC |
| 5 | g.96398952C>A | CA360479001 | PCSK1 | c.1515G>T (p.Glu505Asp) c.1374G>T (p.Glu458Asp) n.658G>T n.354+19300C>A | |
| 5 | g.96398952C= | CA1565404418 | PCSK1 | c.1515G= (p.Glu505=) c.1374G= (p.Glu458=) n.658G= n.354+19300C= | |
| 5 | g.96398952C>G | CA360479002 | PCSK1 | c.1515G>C (p.Glu505Asp) c.1374G>C (p.Glu458Asp) n.658G>C n.354+19300C>G | |
| 5 | g.96398952C>T | CA3350197 | PCSK1 | c.1515G>A (p.Glu505=) c.1374G>A (p.Glu458=) n.658G>A n.354+19300C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.96398953T>A | CA360479003 | PCSK1 | c.1514A>T (p.Glu505Val) c.1373A>T (p.Glu458Val) n.657A>T n.354+19301T>A | |
| 5 | g.96398953T>C | CA360479004 | PCSK1 | c.1514A>G (p.Glu505Gly) c.1373A>G (p.Glu458Gly) n.657A>G n.354+19301T>C | |
| 5 | g.96398953T>G | CA360479005 | PCSK1 | c.1514A>C (p.Glu505Ala) c.1373A>C (p.Glu458Ala) n.657A>C n.354+19301T>G | |
| 5 | g.96398954C>A | CA360479006 | PCSK1 | c.1513G>T (p.Glu505Ter) c.1372G>T (p.Glu458Ter) n.656G>T n.354+19302C>A | COSMIC |
| 5 | g.96398954C>G | CA360479007 | PCSK1 | c.1513G>C (p.Glu505Gln) c.1372G>C (p.Glu458Gln) n.656G>C n.354+19302C>G | |
| 5 | g.96398954C>T | CA360479008 | PCSK1 | c.1513G>A (p.Glu505Lys) c.1372G>A (p.Glu458Lys) n.656G>A n.354+19302C>T | |
| 5 | g.96398955C>A | CA445491606 | PCSK1 | c.1512G>T (p.Leu504=) c.1371G>T (p.Leu457=) n.655G>T n.354+19303C>A | |
| 5 | g.96398955C= | CA1565404419 | PCSK1 | c.1512G= (p.Leu504=) c.1371G= (p.Leu457=) n.655G= n.354+19303C= | |
| 5 | g.96398955C>G | CA445491605 | PCSK1 | c.1512G>C (p.Leu504=) c.1371G>C (p.Leu457=) n.655G>C n.354+19303C>G | |
| 5 | g.96398955C>T | CA3350198 | PCSK1 | c.1512G>A (p.Leu504=) c.1371G>A (p.Leu457=) n.655G>A n.354+19303C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398956A>C | CA360479009 | PCSK1 | c.1511T>G (p.Leu504Arg) c.1370T>G (p.Leu457Arg) n.654T>G n.354+19304A>C | gnomAD v4 |
| 5 | g.96398956A>G | CA360479010 | PCSK1 | c.1511T>C (p.Leu504Pro) c.1370T>C (p.Leu457Pro) n.654T>C n.354+19304A>G | |
| 5 | g.96398956A>T | CA360479011 | PCSK1 | c.1511T>A (p.Leu504Gln) c.1370T>A (p.Leu457Gln) n.654T>A n.354+19304A>T | |
| 5 | g.96398957G>A | CA445491608 | PCSK1 | c.1510C>T (p.Leu504=) c.1369C>T (p.Leu457=) n.653C>T n.354+19305G>A | |
| 5 | g.96398957G>C | CA360479012 | PCSK1 | c.1510C>G (p.Leu504Val) c.1369C>G (p.Leu457Val) n.653C>G n.354+19305G>C | |
| 5 | g.96398957G>T | CA360479013 | PCSK1 | c.1510C>A (p.Leu504Met) c.1369C>A (p.Leu457Met) n.653C>A n.354+19305G>T | |
| 5 | g.96398958G>A | CA445491609 | PCSK1 | c.1509C>T (p.Ser503=) c.1368C>T (p.Ser456=) n.652C>T n.354+19306G>A | gnomAD v4 COSMIC |
| 5 | g.96398958G>C | CA445491610 | PCSK1 | c.1509C>G (p.Ser503=) c.1368C>G (p.Ser456=) n.652C>G n.354+19306G>C | |
| 5 | g.96398958G>T | CA445491611 | PCSK1 | c.1509C>A (p.Ser503=) c.1368C>A (p.Ser456=) n.652C>A n.354+19306G>T | |
| 5 | g.96398959G>A | CA360479016 | PCSK1 | c.1508C>T (p.Ser503Phe) c.1367C>T (p.Ser456Phe) n.651C>T n.354+19307G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96398959G>C | CA360479014 | PCSK1 | c.1508C>G (p.Ser503Cys) c.1367C>G (p.Ser456Cys) n.651C>G n.354+19307G>C | |
| 5 | g.96398959G= | CA1565404420 | PCSK1 | c.1508C= (p.Ser503=) c.1367C= (p.Ser456=) n.651C= n.354+19307G= | |
| 5 | g.96398959G>T | CA360479015 | PCSK1 | c.1508C>A (p.Ser503Tyr) c.1367C>A (p.Ser456Tyr) n.651C>A n.354+19307G>T | |
| 5 | g.96398960A>C | CA360479017 | PCSK1 | c.1507T>G (p.Ser503Ala) c.1366T>G (p.Ser456Ala) n.650T>G n.354+19308A>C | |
| 5 | g.96398960A>G | CA360479018 | PCSK1 | c.1507T>C (p.Ser503Pro) c.1366T>C (p.Ser456Pro) n.650T>C n.354+19308A>G | |
| 5 | g.96398960A>T | CA360479019 | PCSK1 | c.1507T>A (p.Ser503Thr) c.1366T>A (p.Ser456Thr) n.650T>A n.354+19308A>T | |
| 5 | g.96398961C>A | CA360479020 | PCSK1 | c.1506G>T (p.Lys502Asn) c.1365G>T (p.Lys455Asn) n.649G>T n.354+19309C>A | |
| 5 | g.96398961C>G | CA360479021 | PCSK1 | c.1506G>C (p.Lys502Asn) c.1365G>C (p.Lys455Asn) n.649G>C n.354+19309C>G | |
| 5 | g.96398961C>T | CA445491613 | PCSK1 | c.1506G>A (p.Lys502=) c.1365G>A (p.Lys455=) n.649G>A n.354+19309C>T | gnomAD v4 |
| 5 | g.96398962T>A | CA360479022 | PCSK1 | c.1505A>T (p.Lys502Met) c.1364A>T (p.Lys455Met) n.648A>T n.354+19310T>A | |
| 5 | g.96398962T>C | CA360479023 | PCSK1 | c.1505A>G (p.Lys502Arg) c.1364A>G (p.Lys455Arg) n.648A>G n.354+19310T>C | dbSNP |
| 5 | g.96398962T>G | CA360479024 | PCSK1 | c.1505A>C (p.Lys502Thr) c.1364A>C (p.Lys455Thr) n.648A>C n.354+19310T>G | |
| 5 | g.96398962T= | CA1565404421 | PCSK1 | c.1505A= (p.Lys502=) c.1364A= (p.Lys455=) n.648A= n.354+19310T= | |
| 5 | g.96398964_96398972dup | CA2674665173 | PCSK1 | c.1497_1505dup (p.Ile501_Lys502insAsnAlaIle) c.1356_1364dup (p.Ile454_Lys455insAsnAlaIle) n.640_648dup n.354+19312_354+19320dup | gnomAD v4 |
| 5 | g.96398963T>A | CA360479025 | PCSK1 | c.1504A>T (p.Lys502Ter) c.1363A>T (p.Lys455Ter) n.647A>T n.354+19311T>A | |
| 5 | g.96398963T>C | CA360479026 | PCSK1 | c.1504A>G (p.Lys502Glu) c.1363A>G (p.Lys455Glu) n.647A>G n.354+19311T>C | |
| 5 | g.96398963T>G | CA360479027 | PCSK1 | c.1504A>C (p.Lys502Gln) c.1363A>C (p.Lys455Gln) n.647A>C n.354+19311T>G | gnomAD v4 |
| 5 | g.96398964G>A | CA3350199 | PCSK1 | c.1503C>T (p.Ile501=) c.1362C>T (p.Ile454=) n.646C>T n.354+19312G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398964G>C | CA360479028 | PCSK1 | c.1503C>G (p.Ile501Met) c.1362C>G (p.Ile454Met) n.646C>G n.354+19312G>C | |
| 5 | g.96398964G= | CA1565404422 | PCSK1 | c.1503C= (p.Ile501=) c.1362C= (p.Ile454=) n.646C= n.354+19312G= | |
| 5 | g.96398964G>T | CA445491614 | PCSK1 | c.1503C>A (p.Ile501=) c.1362C>A (p.Ile454=) n.646C>A n.354+19312G>T | gnomAD v4 |
| 5 | g.96398965A>C | CA360479029 | PCSK1 | c.1502T>G (p.Ile501Ser) c.1361T>G (p.Ile454Ser) n.645T>G n.354+19313A>C | |
| 5 | g.96398965A>G | CA360479030 | PCSK1 | c.1502T>C (p.Ile501Thr) c.1361T>C (p.Ile454Thr) n.645T>C n.354+19313A>G | |
| 5 | g.96398965A>T | CA360479031 | PCSK1 | c.1502T>A (p.Ile501Asn) c.1361T>A (p.Ile454Asn) n.645T>A n.354+19313A>T | |
| 5 | g.96398966T>A | CA360479032 | PCSK1 | c.1501A>T (p.Ile501Phe) c.1360A>T (p.Ile454Phe) n.644A>T n.354+19314T>A | |
| 5 | g.96398966T>C | CA360479033 | PCSK1 | c.1501A>G (p.Ile501Val) c.1360A>G (p.Ile454Val) n.644A>G n.354+19314T>C | gnomAD v4 |
| 5 | g.96398966T>G | CA360479034 | PCSK1 | c.1501A>C (p.Ile501Leu) c.1360A>C (p.Ile454Leu) n.644A>C n.354+19314T>G | ClinVar gnomAD v4 |
| 5 | g.96398967A>C | CA445491615 | PCSK1 | c.1500T>G (p.Ala500=) c.1359T>G (p.Ala453=) n.643T>G n.354+19315A>C | |
| 5 | g.96398967A>G | CA445491616 | PCSK1 | c.1500T>C (p.Ala500=) c.1359T>C (p.Ala453=) n.643T>C n.354+19315A>G | gnomAD v4 |
| 5 | g.96398967A>T | CA445491617 | PCSK1 | c.1500T>A (p.Ala500=) c.1359T>A (p.Ala453=) n.643T>A n.354+19315A>T | |
| 5 | g.96398968G>A | CA3350200 | PCSK1 | c.1499C>T (p.Ala500Val) c.1358C>T (p.Ala453Val) n.642C>T n.354+19316G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398968G>C | CA360479035 | PCSK1 | c.1499C>G (p.Ala500Gly) c.1358C>G (p.Ala453Gly) n.642C>G n.354+19316G>C | |
| 5 | g.96398968G= | CA1565404423 | PCSK1 | c.1499C= (p.Ala500=) c.1358C= (p.Ala453=) n.642C= n.354+19316G= | |
| 5 | g.96398968G>T | CA360479036 | PCSK1 | c.1499C>A (p.Ala500Asp) c.1358C>A (p.Ala453Asp) n.642C>A n.354+19316G>T | |
| 5 | g.96398969C>A | CA360479037 | PCSK1 | c.1498G>T (p.Ala500Ser) c.1357G>T (p.Ala453Ser) n.641G>T n.354+19317C>A | gnomAD v4 |
| 5 | g.96398969C>G | CA360479038 | PCSK1 | c.1498G>C (p.Ala500Pro) c.1357G>C (p.Ala453Pro) n.641G>C n.354+19317C>G | |
| 5 | g.96398969C>T | CA360479039 | PCSK1 | c.1498G>A (p.Ala500Thr) c.1357G>A (p.Ala453Thr) n.641G>A n.354+19317C>T | |
| 5 | g.96398970A= | CA1565404424 | PCSK1 | c.1497T= (p.Asn499=) c.1356T= (p.Asn452=) n.640T= n.354+19318A= | |
| 5 | g.96398970A>C | CA360479040 | PCSK1 | c.1497T>G (p.Asn499Lys) c.1356T>G (p.Asn452Lys) n.640T>G n.354+19318A>C | |
| 5 | g.96398970A>G | CA445491618 | PCSK1 | c.1497T>C (p.Asn499=) c.1356T>C (p.Asn452=) n.640T>C n.354+19318A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.96398970A>T | CA360479041 | PCSK1 | c.1497T>A (p.Asn499Lys) c.1356T>A (p.Asn452Lys) n.640T>A n.354+19318A>T | |
| 5 | g.96398971T>A | CA360479042 | PCSK1 | c.1496A>T (p.Asn499Ile) c.1355A>T (p.Asn452Ile) n.639A>T n.354+19319T>A | |
| 5 | g.96398971T>C | CA360479044 | PCSK1 | c.1496A>G (p.Asn499Ser) c.1355A>G (p.Asn452Ser) n.639A>G n.354+19319T>C | |
| 5 | g.96398971T>G | CA360479043 | PCSK1 | c.1496A>C (p.Asn499Thr) c.1355A>C (p.Asn452Thr) n.639A>C n.354+19319T>G | |
| 5 | g.96398972T>A | CA360479045 | PCSK1 | c.1495A>T (p.Asn499Tyr) c.1354A>T (p.Asn452Tyr) n.638A>T n.354+19320T>A | |
| 5 | g.96398972T>C | CA360479046 | PCSK1 | c.1495A>G (p.Asn499Asp) c.1354A>G (p.Asn452Asp) n.638A>G n.354+19320T>C | |
| 5 | g.96398972T>G | CA360479047 | PCSK1 | c.1495A>C (p.Asn499His) c.1354A>C (p.Asn452His) n.638A>C n.354+19320T>G | |
| 5 | g.96398973T>A | CA360479048 | PCSK1 | c.1494A>T (p.Glu498Asp) c.1353A>T (p.Glu451Asp) n.637A>T n.354+19321T>A | |
| 5 | g.96398973T>C | CA445491620 | PCSK1 | c.1494A>G (p.Glu498=) c.1353A>G (p.Glu451=) n.637A>G n.354+19321T>C | |
| 5 | g.96398973T>G | CA360479049 | PCSK1 | c.1494A>C (p.Glu498Asp) c.1353A>C (p.Glu451Asp) n.637A>C n.354+19321T>G | |
| 5 | g.96398974T>A | CA360479050 | PCSK1 | c.1493A>T (p.Glu498Val) c.1352A>T (p.Glu451Val) n.636A>T n.354+19322T>A | |
| 5 | g.96398974T>C | CA360479051 | PCSK1 | c.1493A>G (p.Glu498Gly) c.1352A>G (p.Glu451Gly) n.636A>G n.354+19322T>C | |
| 5 | g.96398974T>G | CA360479052 | PCSK1 | c.1493A>C (p.Glu498Ala) c.1352A>C (p.Glu451Ala) n.636A>C n.354+19322T>G | |
| 5 | g.96398975C>A | CA360479053 | PCSK1 | c.1492G>T (p.Glu498Ter) c.1351G>T (p.Glu451Ter) n.635G>T n.354+19323C>A | |
| 5 | g.96398975C= | CA1565404425 | PCSK1 | c.1492G= (p.Glu498=) c.1351G= (p.Glu451=) n.635G= n.354+19323C= | |
| 5 | g.96398975C>G | CA3350201 | PCSK1 | c.1492G>C (p.Glu498Gln) c.1351G>C (p.Glu451Gln) n.635G>C n.354+19323C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96398975C>T | CA360479054 | PCSK1 | c.1492G>A (p.Glu498Lys) c.1351G>A (p.Glu451Lys) n.635G>A n.354+19323C>T | |
| 5 | g.96398976T>A | CA360479056 | PCSK1 | c.1491A>T (p.Gln497His) c.1350A>T (p.Gln450His) n.634A>T n.354+19324T>A | |
| 5 | g.96398976T>C | CA445491621 | PCSK1 | c.1491A>G (p.Gln497=) c.1350A>G (p.Gln450=) n.634A>G n.354+19324T>C | |
| 5 | g.96398976T>G | CA360479055 | PCSK1 | c.1491A>C (p.Gln497His) c.1350A>C (p.Gln450His) n.634A>C n.354+19324T>G | |
| 5 | g.96398977T>A | CA360479057 | PCSK1 | c.1490A>T (p.Gln497Leu) c.1349A>T (p.Gln450Leu) n.633A>T n.354+19325T>A | |
| 5 | g.96398977T>C | CA360479059 | PCSK1 | c.1490A>G (p.Gln497Arg) c.1349A>G (p.Gln450Arg) n.633A>G n.354+19325T>C | |
| 5 | g.96398977T>G | CA360479058 | PCSK1 | c.1490A>C (p.Gln497Pro) c.1349A>C (p.Gln450Pro) n.633A>C n.354+19325T>G | |
| 5 | g.96398978G>A | CA360479060 | PCSK1 | c.1489C>T (p.Gln497Ter) c.1348C>T (p.Gln450Ter) n.632C>T n.354+19326G>A | gnomAD v4 |
| 5 | g.96398978G>C | CA360479061 | PCSK1 | c.1489C>G (p.Gln497Glu) c.1348C>G (p.Gln450Glu) n.632C>G n.354+19326G>C | |
| 5 | g.96398978G>T | CA360479062 | PCSK1 | c.1489C>A (p.Gln497Lys) c.1348C>A (p.Gln450Lys) n.632C>A n.354+19326G>T | |
| 5 | g.96398979T>A | CA445491622 | PCSK1 | c.1488A>T (p.Gly496=) c.1347A>T (p.Gly449=) n.631A>T n.354+19327T>A | |
| 5 | g.96398979T>C | CA3350202 | PCSK1 | c.1488A>G (p.Gly496=) c.1347A>G (p.Gly449=) n.631A>G n.354+19327T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398979T>G | CA445491623 | PCSK1 | c.1488A>C (p.Gly496=) c.1347A>C (p.Gly449=) n.631A>C n.354+19327T>G | |
| 5 | g.96398979T= | CA1565404426 | PCSK1 | c.1488A= (p.Gly496=) c.1347A= (p.Gly449=) n.631A= n.354+19327T= | |
| 5 | g.96398980C>A | CA360479063 | PCSK1 | c.1487G>T (p.Gly496Val) c.1346G>T (p.Gly449Val) n.630G>T n.354+19328C>A | dbSNP |
| 5 | g.96398980C= | CA1565404427 | PCSK1 | c.1487G= (p.Gly496=) c.1346G= (p.Gly449=) n.630G= n.354+19328C= | |
| 5 | g.96398980C>G | CA360479064 | PCSK1 | c.1487G>C (p.Gly496Ala) c.1346G>C (p.Gly449Ala) n.630G>C n.354+19328C>G | |
| 5 | g.96398980C>T | CA360479065 | PCSK1 | c.1487G>A (p.Gly496Glu) c.1346G>A (p.Gly449Glu) n.630G>A n.354+19328C>T | gnomAD v4 |
| 5 | g.96398981C>A | CA360479068 | PCSK1 | c.1486G>T (p.Gly496Ter) c.1345G>T (p.Gly449Ter) n.629G>T n.354+19329C>A | |
| 5 | g.96398981C>G | CA360479066 | PCSK1 | c.1486G>C (p.Gly496Arg) c.1345G>C (p.Gly449Arg) n.629G>C n.354+19329C>G | |
| 5 | g.96398981C>T | CA360479067 | PCSK1 | c.1486G>A (p.Gly496Arg) c.1345G>A (p.Gly449Arg) n.629G>A n.354+19329C>T | gnomAD v4 COSMIC |
| 5 | g.96398982T>A | CA360479069 | PCSK1 | c.1485A>T (p.Glu495Asp) c.1344A>T (p.Glu448Asp) n.628A>T n.354+19330T>A | |
| 5 | g.96398982T>C | CA445491624 | PCSK1 | c.1485A>G (p.Glu495=) c.1344A>G (p.Glu448=) n.628A>G n.354+19330T>C | |
| 5 | g.96398982T>G | CA360479070 | PCSK1 | c.1485A>C (p.Glu495Asp) c.1344A>C (p.Glu448Asp) n.628A>C n.354+19330T>G | |
| 5 | g.96398983T>A | CA360479071 | PCSK1 | c.1484A>T (p.Glu495Val) c.1343A>T (p.Glu448Val) n.627A>T n.354+19331T>A | |
| 5 | g.96398983T>C | CA360479072 | PCSK1 | c.1484A>G (p.Glu495Gly) c.1343A>G (p.Glu448Gly) n.627A>G n.354+19331T>C | |
| 5 | g.96398983T>G | CA360479073 | PCSK1 | c.1484A>C (p.Glu495Ala) c.1343A>C (p.Glu448Ala) n.627A>C n.354+19331T>G | |
| 5 | g.96398984C>A | CA360479074 | PCSK1 | c.1483G>T (p.Glu495Ter) c.1342G>T (p.Glu448Ter) n.626G>T n.354+19332C>A | |
| 5 | g.96398984C>G | CA360479076 | PCSK1 | c.1483G>C (p.Glu495Gln) c.1342G>C (p.Glu448Gln) n.626G>C n.354+19332C>G | |
| 5 | g.96398984C>T | CA360479075 | PCSK1 | c.1483G>A (p.Glu495Lys) c.1342G>A (p.Glu448Lys) n.626G>A n.354+19332C>T | |
| 5 | g.96398985A>C | CA360479077 | PCSK1 | c.1482T>G (p.Cys494Trp) c.1341T>G (p.Cys447Trp) n.625T>G n.354+19333A>C | |
| 5 | g.96398985A>G | CA445491625 | PCSK1 | c.1482T>C (p.Cys494=) c.1341T>C (p.Cys447=) n.625T>C n.354+19333A>G | |
| 5 | g.96398985A>T | CA360479078 | PCSK1 | c.1482T>A (p.Cys494Ter) c.1341T>A (p.Cys447Ter) n.625T>A n.354+19333A>T | |
| 5 | g.96398986C>A | CA360479079 | PCSK1 | c.1481G>T (p.Cys494Phe) c.1340G>T (p.Cys447Phe) n.624G>T n.354+19334C>A | |
| 5 | g.96398986C>G | CA360479080 | PCSK1 | c.1481G>C (p.Cys494Ser) c.1340G>C (p.Cys447Ser) n.624G>C n.354+19334C>G | gnomAD v4 |
| 5 | g.96398986C>T | CA360479081 | PCSK1 | c.1481G>A (p.Cys494Tyr) c.1340G>A (p.Cys447Tyr) n.624G>A n.354+19334C>T | |
| 5 | g.96398987A= | CA1565404428 | PCSK1 | c.1480T= (p.Cys494=) c.1339T= (p.Cys447=) n.623T= n.354+19335A= | |
| 5 | g.96398987A>C | CA3350203 | PCSK1 | c.1480T>G (p.Cys494Gly) c.1339T>G (p.Cys447Gly) n.623T>G n.354+19335A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96398987A>G | CA360479082 | PCSK1 | c.1480T>C (p.Cys494Arg) c.1339T>C (p.Cys447Arg) n.623T>C n.354+19335A>G | |
| 5 | g.96398987A>T | CA360479083 | PCSK1 | c.1480T>A (p.Cys494Ser) c.1339T>A (p.Cys447Ser) n.623T>A n.354+19335A>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96398988A>C | CA445491626 | PCSK1 | c.1479T>G (p.Ala493=) c.1338T>G (p.Ala446=) n.622T>G n.354+19336A>C | |
| 5 | g.96398988A>G | CA445491627 | PCSK1 | c.1479T>C (p.Ala493=) c.1338T>C (p.Ala446=) n.622T>C n.354+19336A>G | |
| 5 | g.96398988A>T | CA445491628 | PCSK1 | c.1479T>A (p.Ala493=) c.1338T>A (p.Ala446=) n.622T>A n.354+19336A>T | |
| 5 | g.96398989G>A | CA360479084 | PCSK1 | c.1478C>T (p.Ala493Val) c.1337C>T (p.Ala446Val) n.621C>T n.354+19337G>A | dbSNP gnomAD v2 |
| 5 | g.96398989G>C | CA360479085 | PCSK1 | c.1478C>G (p.Ala493Gly) c.1337C>G (p.Ala446Gly) n.621C>G n.354+19337G>C | |
| 5 | g.96398989G= | CA1565404429 | PCSK1 | c.1478C= (p.Ala493=) c.1337C= (p.Ala446=) n.621C= n.354+19337G= | |
| 5 | g.96398989G>T | CA360479086 | PCSK1 | c.1478C>A (p.Ala493Asp) c.1337C>A (p.Ala446Asp) n.621C>A n.354+19337G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398990C>A | CA360479087 | PCSK1 | c.1477G>T (p.Ala493Ser) c.1336G>T (p.Ala446Ser) n.620G>T n.354+19338C>A | |
| 5 | g.96398990C>G | CA360479089 | PCSK1 | c.1477G>C (p.Ala493Pro) c.1336G>C (p.Ala446Pro) n.620G>C n.354+19338C>G | |
| 5 | g.96398990C>T | CA360479088 | PCSK1 | c.1477G>A (p.Ala493Thr) c.1336G>A (p.Ala446Thr) n.620G>A n.354+19338C>T | |
| 5 | g.96398991T>A | CA360479090 | PCSK1 | c.1476A>T (p.Arg492Ser) c.1335A>T (p.Arg445Ser) n.619A>T n.354+19339T>A | |
| 5 | g.96398991T>C | CA445491629 | PCSK1 | c.1476A>G (p.Arg492=) c.1335A>G (p.Arg445=) n.619A>G n.354+19339T>C | |
| 5 | g.96398991T>G | CA360479091 | PCSK1 | c.1476A>C (p.Arg492Ser) c.1335A>C (p.Arg445Ser) n.619A>C n.354+19339T>G | |
| 5 | g.96398992C>A | CA360479092 | PCSK1 | c.1475G>T (p.Arg492Ile) c.1334G>T (p.Arg445Ile) n.618G>T n.354+19340C>A | |
| 5 | g.96398992C= | CA1565404431 | PCSK1 | c.1475G= (p.Arg492=) c.1334G= (p.Arg445=) n.618G= n.354+19340C= | |
| 5 | g.96398992C>G | CA360479093 | PCSK1 | c.1475G>C (p.Arg492Thr) c.1334G>C (p.Arg445Thr) n.618G>C n.354+19340C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96398992C>T | CA360479094 | PCSK1 | c.1475G>A (p.Arg492Lys) c.1334G>A (p.Arg445Lys) n.618G>A n.354+19340C>T | |
| 5 | g.96398992_96398995delinsCTTG | CA1565404430 | PCSK1 | c.1472_1475delinsCAAG (p.Thr491=) c.1331_1334delinsCAAG (p.Thr444=) n.615_618delinsCAAG n.354+19340_354+19343delinsCTTG | |
| 5 | g.96398993T>A | CA360479095 | PCSK1 | c.1474A>T (p.Arg492Ter) c.1333A>T (p.Arg445Ter) n.617A>T n.354+19341T>A | |
| 5 | g.96398993T>C | CA360479096 | PCSK1 | c.1474A>G (p.Arg492Gly) c.1333A>G (p.Arg445Gly) n.617A>G n.354+19341T>C | |
| 5 | g.96398993T>G | CA445491630 | PCSK1 | c.1474A>C (p.Arg492=) c.1333A>C (p.Arg445=) n.617A>C n.354+19341T>G | |
| 5 | g.96398994del | CA2674665174 | PCSK1 | c.1474del (p.Arg492GlufsTer?) c.1333del (p.Arg445GlufsTer?) n.617del n.354+19342del | gnomAD v4 |
| 5 | g.96398996_96398998del | CA3350204 | PCSK1 | c.1472_1474del (p.Thr491del) c.1331_1333del (p.Thr444del) n.615_617del n.354+19344_354+19346del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96398994T>A | CA445491631 | PCSK1 | c.1473A>T (p.Thr491=) c.1332A>T (p.Thr444=) n.616A>T n.354+19342T>A | |
| 5 | g.96398994T>C | CA445491632 | PCSK1 | c.1473A>G (p.Thr491=) c.1332A>G (p.Thr444=) n.616A>G n.354+19342T>C | |
| 5 | g.96398994T>G | CA445491633 | PCSK1 | c.1473A>C (p.Thr491=) c.1332A>C (p.Thr444=) n.616A>C n.354+19342T>G | |
| 5 | g.96398995G>A | CA360479097 | PCSK1 | c.1472C>T (p.Thr491Ile) c.1331C>T (p.Thr444Ile) n.615C>T n.354+19343G>A | |
| 5 | g.96398995G>C | CA360479098 | PCSK1 | c.1472C>G (p.Thr491Arg) c.1331C>G (p.Thr444Arg) n.615C>G n.354+19343G>C | |
| 5 | g.96398995G>T | CA360479099 | PCSK1 | c.1472C>A (p.Thr491Lys) c.1331C>A (p.Thr444Lys) n.615C>A n.354+19343G>T | |
| 5 | g.96398996T>A | CA360479102 | PCSK1 | c.1471A>T (p.Thr491Ser) c.1330A>T (p.Thr444Ser) n.614A>T n.354+19344T>A | |
| 5 | g.96398996T>C | CA360479101 | PCSK1 | c.1471A>G (p.Thr491Ala) c.1330A>G (p.Thr444Ala) n.614A>G n.354+19344T>C | |
| 5 | g.96398996T>G | CA360479100 | PCSK1 | c.1471A>C (p.Thr491Pro) c.1330A>C (p.Thr444Pro) n.614A>C n.354+19344T>G | |
| 5 | g.96398997T>A | CA445491634 | PCSK1 | c.1470A>T (p.Pro490=) c.1329A>T (p.Pro443=) n.613A>T n.354+19345T>A | |
| 5 | g.96398997T>C | CA445491635 | PCSK1 | c.1470A>G (p.Pro490=) c.1329A>G (p.Pro443=) n.613A>G n.354+19345T>C | |
| 5 | g.96398997T>G | CA445491636 | PCSK1 | c.1470A>C (p.Pro490=) c.1329A>C (p.Pro443=) n.613A>C n.354+19345T>G | |
| 5 | g.96398998G>A | CA360479103 | PCSK1 | c.1469C>T (p.Pro490Leu) c.1328C>T (p.Pro443Leu) n.612C>T n.354+19346G>A | |
| 5 | g.96398998G>C | CA360479104 | PCSK1 | c.1469C>G (p.Pro490Arg) c.1328C>G (p.Pro443Arg) n.612C>G n.354+19346G>C | |
| 5 | g.96398998G>T | CA360479105 | PCSK1 | c.1469C>A (p.Pro490Gln) c.1328C>A (p.Pro443Gln) n.612C>A n.354+19346G>T | |
| 5 | g.96398999G>A | CA360479106 | PCSK1 | c.1468C>T (p.Pro490Ser) c.1327C>T (p.Pro443Ser) n.611C>T n.354+19347G>A | COSMIC |
| 5 | g.96398999G>C | CA360479107 | PCSK1 | c.1468C>G (p.Pro490Ala) c.1327C>G (p.Pro443Ala) n.611C>G n.354+19347G>C | |
| 5 | g.96398999G>T | CA360479108 | PCSK1 | c.1468C>A (p.Pro490Thr) c.1327C>A (p.Pro443Thr) n.611C>A n.354+19347G>T | |
| 5 | g.96399000A>C | CA360479109 | PCSK1 | c.1467T>G (p.Ile489Met) c.1326T>G (p.Ile442Met) n.610T>G n.354+19348A>C | |
| 5 | g.96399000A>G | CA445491638 | PCSK1 | c.1467T>C (p.Ile489=) c.1326T>C (p.Ile442=) n.610T>C n.354+19348A>G | |
| 5 | g.96399000A>T | CA445491639 | PCSK1 | c.1467T>A (p.Ile489=) c.1326T>A (p.Ile442=) n.610T>A n.354+19348A>T | |
| 5 | g.96399001A>C | CA360479110 | PCSK1 | c.1466T>G (p.Ile489Ser) c.1325T>G (p.Ile442Ser) n.609T>G n.354+19349A>C | |
| 5 | g.96399001A>G | CA360479111 | PCSK1 | c.1466T>C (p.Ile489Thr) c.1325T>C (p.Ile442Thr) n.609T>C n.354+19349A>G | gnomAD v4 |
| 5 | g.96399001A>T | CA360479112 | PCSK1 | c.1466T>A (p.Ile489Asn) c.1325T>A (p.Ile442Asn) n.609T>A n.354+19349A>T | |
| 5 | g.96399002T>A | CA360479113 | PCSK1 | c.1465A>T (p.Ile489Phe) c.1324A>T (p.Ile442Phe) n.608A>T n.354+19350T>A | |
| 5 | g.96399002T>C | CA360479114 | PCSK1 | c.1465A>G (p.Ile489Val) c.1324A>G (p.Ile442Val) n.608A>G n.354+19350T>C | |
| 5 | g.96399002T>G | CA360479115 | PCSK1 | c.1465A>C (p.Ile489Leu) c.1324A>C (p.Ile442Leu) n.608A>C n.354+19350T>G | |
| 5 | g.96399003T>A | CA360479117 | PCSK1 | c.1464A>T (p.Glu488Asp) c.1323A>T (p.Glu441Asp) n.607A>T n.354+19351T>A | |
| 5 | g.96399003T>C | CA445491641 | PCSK1 | c.1464A>G (p.Glu488=) c.1323A>G (p.Glu441=) n.607A>G n.354+19351T>C | |
| 5 | g.96399003T>G | CA360479116 | PCSK1 | c.1464A>C (p.Glu488Asp) c.1323A>C (p.Glu441Asp) n.607A>C n.354+19351T>G | |
| 5 | g.96399004T>A | CA360479118 | PCSK1 | c.1463A>T (p.Glu488Val) c.1322A>T (p.Glu441Val) n.606A>T n.354+19352T>A | |
| 5 | g.96399004T>C | CA360479119 | PCSK1 | c.1463A>G (p.Glu488Gly) c.1322A>G (p.Glu441Gly) n.606A>G n.354+19352T>C | |
| 5 | g.96399004T>G | CA360479120 | PCSK1 | c.1463A>C (p.Glu488Ala) c.1322A>C (p.Glu441Ala) n.606A>C n.354+19352T>G | |
| 5 | g.96399005C>A | CA360479121 | PCSK1 | c.1462G>T (p.Glu488Ter) c.1321G>T (p.Glu441Ter) n.605G>T n.354+19353C>A | |
| 5 | g.96399005C>G | CA360479122 | PCSK1 | c.1462G>C (p.Glu488Gln) c.1321G>C (p.Glu441Gln) n.605G>C n.354+19353C>G | |
| 5 | g.96399005C>T | CA360479123 | PCSK1 | c.1462G>A (p.Glu488Lys) c.1321G>A (p.Glu441Lys) n.605G>A n.354+19353C>T | COSMIC |
| 5 | g.96399006A>C | CA360479124 | PCSK1 | c.1461T>G (p.Ile487Met) c.1320T>G (p.Ile440Met) n.604T>G n.354+19354A>C | |
| 5 | g.96399006A>G | CA445491642 | PCSK1 | c.1461T>C (p.Ile487=) c.1320T>C (p.Ile440=) n.604T>C n.354+19354A>G | ClinVar |
| 5 | g.96399006A>T | CA445491643 | PCSK1 | c.1461T>A (p.Ile487=) c.1320T>A (p.Ile440=) n.604T>A n.354+19354A>T | |
| 5 | g.96399007A= | CA1565404432 | PCSK1 | c.1460T= (p.Ile487=) c.1319T= (p.Ile440=) n.603T= n.354+19355A= | |
| 5 | g.96399007A>C | CA360479125 | PCSK1 | c.1460T>G (p.Ile487Ser) c.1319T>G (p.Ile440Ser) n.603T>G n.354+19355A>C | |
| 5 | g.96399007A>G | CA3350205 | PCSK1 | c.1460T>C (p.Ile487Thr) c.1319T>C (p.Ile440Thr) n.603T>C n.354+19355A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96399007A>T | CA360479126 | PCSK1 | c.1460T>A (p.Ile487Asn) c.1319T>A (p.Ile440Asn) n.603T>A n.354+19355A>T | gnomAD v4 |
| 5 | g.96399009_96399011del | CA2674665175 | PCSK1 | c.1458_1460del (p.Ile487del) c.1317_1319del (p.Ile440del) n.601_603del n.354+19357_354+19359del | gnomAD v4 |
| 5 | g.96399008T>A | CA360479127 | PCSK1 | c.1459A>T (p.Ile487Phe) c.1318A>T (p.Ile440Phe) n.602A>T n.354+19356T>A | dbSNP gnomAD v4 |
| 5 | g.96399008T>C | CA360479128 | PCSK1 | c.1459A>G (p.Ile487Val) c.1318A>G (p.Ile440Val) n.602A>G n.354+19356T>C | dbSNP gnomAD v4 |
| 5 | g.96399008T>G | CA360479129 | PCSK1 | c.1459A>C (p.Ile487Leu) c.1318A>C (p.Ile440Leu) n.602A>C n.354+19356T>G | |
| 5 | g.96399008T= | CA1565404433 | PCSK1 | c.1459A= (p.Ile487=) c.1318A= (p.Ile440=) n.602A= n.354+19356T= | |
| 5 | g.96399009G>A | CA445491644 | PCSK1 | c.1458C>T (p.Ile486=) c.1317C>T (p.Ile439=) n.601C>T n.354+19357G>A | gnomAD v4 |
| 5 | g.96399009G>C | CA360479130 | PCSK1 | c.1458C>G (p.Ile486Met) c.1317C>G (p.Ile439Met) n.601C>G n.354+19357G>C | |
| 5 | g.96399009G>T | CA445491645 | PCSK1 | c.1458C>A (p.Ile486=) c.1317C>A (p.Ile439=) n.601C>A n.354+19357G>T | |
| 5 | g.96399010A>C | CA360479133 | PCSK1 | c.1457T>G (p.Ile486Ser) c.1316T>G (p.Ile439Ser) n.600T>G n.354+19358A>C | |
| 5 | g.96399010A>G | CA360479132 | PCSK1 | c.1457T>C (p.Ile486Thr) c.1316T>C (p.Ile439Thr) n.600T>C n.354+19358A>G | ClinVar |
| 5 | g.96399010A>T | CA360479131 | PCSK1 | c.1457T>A (p.Ile486Asn) c.1316T>A (p.Ile439Asn) n.600T>A n.354+19358A>T | |
| 5 | g.96399011T>A | CA360479134 | PCSK1 | c.1456A>T (p.Ile486Phe) c.1315A>T (p.Ile439Phe) n.599A>T n.354+19359T>A | |
| 5 | g.96399011T>C | CA360479135 | PCSK1 | c.1456A>G (p.Ile486Val) c.1315A>G (p.Ile439Val) n.599A>G n.354+19359T>C | dbSNP |
| 5 | g.96399011T>G | CA360479136 | PCSK1 | c.1456A>C (p.Ile486Leu) c.1315A>C (p.Ile439Leu) n.599A>C n.354+19359T>G | |
| 5 | g.96399011T= | CA1565404434 | PCSK1 | c.1456A= (p.Ile486=) c.1315A= (p.Ile439=) n.599A= n.354+19359T= | |
| 5 | g.96399012A>C | CA445491646 | PCSK1 | c.1455T>G (p.Val485=) c.1314T>G (p.Val438=) n.598T>G n.354+19360A>C | |
| 5 | g.96399012A>G | CA445491647 | PCSK1 | c.1455T>C (p.Val485=) c.1314T>C (p.Val438=) n.598T>C n.354+19360A>G | |
| 5 | g.96399012A>T | CA445491648 | PCSK1 | c.1455T>A (p.Val485=) c.1314T>A (p.Val438=) n.598T>A n.354+19360A>T | |
| 5 | g.96399013A>C | CA360479137 | PCSK1 | c.1454T>G (p.Val485Gly) c.1313T>G (p.Val438Gly) n.597T>G n.354+19361A>C | |
| 5 | g.96399013A>G | CA360479138 | PCSK1 | c.1454T>C (p.Val485Ala) c.1313T>C (p.Val438Ala) n.597T>C n.354+19361A>G | |
| 5 | g.96399013A>T | CA360479139 | PCSK1 | c.1454T>A (p.Val485Asp) c.1313T>A (p.Val438Asp) n.597T>A n.354+19361A>T | |
| 5 | g.96399014C>A | CA360479140 | PCSK1 | c.1453G>T (p.Val485Phe) c.1312G>T (p.Val438Phe) n.596G>T n.354+19362C>A | |
| 5 | g.96399014C>G | CA360479141 | PCSK1 | c.1453G>C (p.Val485Leu) c.1312G>C (p.Val438Leu) n.596G>C n.354+19362C>G | |
| 5 | g.96399014C>T | CA360479142 | PCSK1 | c.1453G>A (p.Val485Ile) c.1312G>A (p.Val438Ile) n.596G>A n.354+19362C>T | |
| 5 | g.96399015T>A | CA360479143 | PCSK1 | c.1452A>T (p.Glu484Asp) c.1311A>T (p.Glu437Asp) n.595A>T n.354+19363T>A | |
| 5 | g.96399015T>C | CA445491649 | PCSK1 | c.1452A>G (p.Glu484=) c.1311A>G (p.Glu437=) n.595A>G n.354+19363T>C | |
| 5 | g.96399015T>G | CA360479144 | PCSK1 | c.1452A>C (p.Glu484Asp) c.1311A>C (p.Glu437Asp) n.595A>C n.354+19363T>G | |
| 5 | g.96399016T>A | CA360479145 | PCSK1 | c.1451A>T (p.Glu484Val) c.1310A>T (p.Glu437Val) n.594A>T n.354+19364T>A | |
| 5 | g.96399016T>C | CA360479146 | PCSK1 | c.1451A>G (p.Glu484Gly) c.1310A>G (p.Glu437Gly) n.594A>G n.354+19364T>C | |
| 5 | g.96399016T>G | CA360479147 | PCSK1 | c.1451A>C (p.Glu484Ala) c.1310A>C (p.Glu437Ala) n.594A>C n.354+19364T>G | |
| 5 | g.96399017C>A | CA360479149 | PCSK1 | c.1450G>T (p.Glu484Ter) c.1309G>T (p.Glu437Ter) n.593G>T n.354+19365C>A | COSMIC |
| 5 | g.96399017C>G | CA360479150 | PCSK1 | c.1450G>C (p.Glu484Gln) c.1309G>C (p.Glu437Gln) n.593G>C n.354+19365C>G | |
| 5 | g.96399017C>T | CA360479148 | PCSK1 | c.1450G>A (p.Glu484Lys) c.1309G>A (p.Glu437Lys) n.593G>A n.354+19365C>T | |
| 5 | g.96399018T>A | CA445491650 | PCSK1 | c.1449A>T (p.Gly483=) c.1308A>T (p.Gly436=) n.592A>T n.354+19366T>A | |
| 5 | g.96399018T>C | CA445491651 | PCSK1 | c.1449A>G (p.Gly483=) c.1308A>G (p.Gly436=) n.592A>G n.354+19366T>C | |
| 5 | g.96399018T>G | CA445491652 | PCSK1 | c.1449A>C (p.Gly483=) c.1308A>C (p.Gly436=) n.592A>C n.354+19366T>G | |
| 5 | g.96399019C>A | CA360479151 | PCSK1 | c.1448G>T (p.Gly483Val) c.1307G>T (p.Gly436Val) n.591G>T n.354+19367C>A | |
| 5 | g.96399019C= | CA1565404435 | PCSK1 | c.1448G= (p.Gly483=) c.1307G= (p.Gly436=) n.591G= n.354+19367C= | |
| 5 | g.96399019C>G | CA360479152 | PCSK1 | c.1448G>C (p.Gly483Ala) c.1307G>C (p.Gly436Ala) n.591G>C n.354+19367C>G | |
| 5 | g.96399019C>T | CA3350206 | PCSK1 | c.1448G>A (p.Gly483Glu) c.1307G>A (p.Gly436Glu) n.591G>A n.354+19367C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96399020C>A | CA360479153 | PCSK1 | c.1447G>T (p.Gly483Ter) c.1306G>T (p.Gly436Ter) n.590G>T n.354+19368C>A | |
| 5 | g.96399020C= | CA1565404436 | PCSK1 | c.1447G= (p.Gly483=) c.1306G= (p.Gly436=) n.590G= n.354+19368C= | |
| 5 | g.96399020C>G | CA360479154 | PCSK1 | c.1447G>C (p.Gly483Arg) c.1306G>C (p.Gly436Arg) n.590G>C n.354+19368C>G | |
| 5 | g.96399020C>T | CA123724 | PCSK1 | c.1447G>A (p.Gly483Arg) c.1306G>A (p.Gly436Arg) n.590G>A n.354+19368C>T | ClinVar dbSNP |
| 5 | g.96399021A= | CA1565404437 | PCSK1 | c.1446T= (p.Asn482=) c.1305T= (p.Asn435=) n.589T= n.354+19369A= | |
| 5 | g.96399021A>C | CA360479155 | PCSK1 | c.1446T>G (p.Asn482Lys) c.1305T>G (p.Asn435Lys) n.589T>G n.354+19369A>C | |
| 5 | g.96399021A>G | CA3350207 | PCSK1 | c.1446T>C (p.Asn482=) c.1305T>C (p.Asn435=) n.589T>C n.354+19369A>G | dbSNP ExAC gnomAD v2 |
| 5 | g.96399021A>T | CA360479156 | PCSK1 | c.1446T>A (p.Asn482Lys) c.1305T>A (p.Asn435Lys) n.589T>A n.354+19369A>T | |
| 5 | g.96399022T>A | CA360479157 | PCSK1 | c.1445A>T (p.Asn482Ile) c.1304A>T (p.Asn435Ile) n.588A>T n.354+19370T>A | |
| 5 | g.96399022T>C | CA360479158 | PCSK1 | c.1445A>G (p.Asn482Ser) c.1304A>G (p.Asn435Ser) n.588A>G n.354+19370T>C | gnomAD v4 |
| 5 | g.96399022T>G | CA360479159 | PCSK1 | c.1445A>C (p.Asn482Thr) c.1304A>C (p.Asn435Thr) n.588A>C n.354+19370T>G | |
| 5 | g.96399023T>A | CA360479162 | PCSK1 | c.1444A>T (p.Asn482Tyr) c.1303A>T (p.Asn435Tyr) n.587A>T n.354+19371T>A | |
| 5 | g.96399023T>C | CA360479161 | PCSK1 | c.1444A>G (p.Asn482Asp) c.1303A>G (p.Asn435Asp) n.587A>G n.354+19371T>C | |
| 5 | g.96399023T>G | CA360479160 | PCSK1 | c.1444A>C (p.Asn482His) c.1303A>C (p.Asn435His) n.587A>C n.354+19371T>G | |
| 5 | g.96399024A= | CA1565404438 | PCSK1 | c.1443T= (p.Ala481=) c.1302T= (p.Ala434=) n.586T= n.354+19372A= | |
| 5 | g.96399024A>C | CA445491653 | PCSK1 | c.1443T>G (p.Ala481=) c.1302T>G (p.Ala434=) n.586T>G n.354+19372A>C | |
| 5 | g.96399024A>G | CA445491654 | PCSK1 | c.1443T>C (p.Ala481=) c.1302T>C (p.Ala434=) n.586T>C n.354+19372A>G | dbSNP |
| 5 | g.96399024A>T | CA445491655 | PCSK1 | c.1443T>A (p.Ala481=) c.1302T>A (p.Ala434=) n.586T>A n.354+19372A>T | |
| 5 | g.96399025G>A | CA360479163 | PCSK1 | c.1442C>T (p.Ala481Val) c.1301C>T (p.Ala434Val) n.585C>T n.354+19373G>A | |
| 5 | g.96399025G>C | CA360479164 | PCSK1 | c.1442C>G (p.Ala481Gly) c.1301C>G (p.Ala434Gly) n.585C>G n.354+19373G>C | |
| 5 | g.96399025G>T | CA360479165 | PCSK1 | c.1442C>A (p.Ala481Asp) c.1301C>A (p.Ala434Asp) n.585C>A n.354+19373G>T |