Database genetische FH-varianten
Zoek op gen, c-positie, p-positie, NM-nummer of referentiegenoom, of bekijk de volledige tabel per jaar. Het archief tot 2016 staat in het tweede tabblad.
Data 2022
| Jaar | Gen | Ref. Genoom | Chrom | c-positie | p-positie | NM | Aantal | Pathogeniciteit |
|---|---|---|---|---|---|---|---|---|
| 2022 | APOB | GRCH37 | 2 | c.9175C>T | p.Arg3059Cys | NM_000384 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | APOB | GRCH37 | 2 | c.10580G>A | p.Arg3527Gln | NM_000384 | 54x (HET: 54, HOM: 0) | 5 pathogeen |
| 2022 | APOB | GRCH37 | 2 | c.10579C>T | p.Arg3527Trp | NM_000384 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | APOB | GRCH37 | 2 | c.10672C>T | p.Arg3558Cys | NM_000384 | 3x (HET: 3, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | APOB | GRCH37 | 2 | c.13480_13482del | p.Gln4494del | NM_000384 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | APOB | GRCH37 | 2 | c.13498C>T | p.Gln4500* | NM_000384 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | APOB | GRCH37 | 2 | c.13576C>T | p.Gln4526* | NM_000384 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | APOB | GRCH37 | 2 | c.10708C>T | p.His3570Tyr | NM_000384 | 2x (HET: 2, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | APOB | GRCH37 | 2 | c.10346A>C | p.Lys3449Thr | NM_000384 | 4x (HET: 4, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.-152C>T | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.-156C>T | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.-187_-185del | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.190+4A>T | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.314-3C>G | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.621C>T | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.694+8_694+18del | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.695-1G>A | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1359-1G>A | p.? | NM_000527 | 9x (HET: 9, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.(940+1_941-1)_(1186+1_1187-1)del | p.? | NM_000527 | 7x (HET: 7, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.313+1G>A | p.? | NM_000527 | 6x (HET: 6, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.191-2A>G | p.? | NM_000527 | 5x (HET: 5, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.313+1G>C | p.? | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.(?_-344)_(67+1_68-1)del | p.? | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.(67+1_68-1)_(190+1_191-1)del | p.? | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1358+1G>A | p.? | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2140+103G>T | p.? | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.314-1G>A | p.? | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.(?_-1)_(*1_?)del | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.(1186+1_1187-1)_(1845+1_1846-1)dup | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.(190+1_191-1)_(694+1_695-1)del | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.(940+1_941-1)_(1586+1_1587-1)del | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1187-10G>A | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1187-17G>A | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1358+2T>A | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1358+5G>T | p.? | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1195G>A | p.Ala399Thr | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1291G>A | p.Ala431Thr | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1618G>A | p.Ala540Thr | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1834G>T | p.Ala612Ser | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.2113G>C | p.Ala705Pro | NM_000527 | 4x (HET: 4, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.769C>T | p.Arg257Trp | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1048C>T | p.Arg350* | NM_000527 | 5x (HET: 5, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1217G>A | p.Arg406Gln | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1247G>A | p.Arg416Gln | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1246C>T | p.Arg416Trp | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1898G>A | p.Arg633His | NM_000527 | 7x (HET: 7, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.241C>T | p.Arg81Cys | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.889A>C | p.Asn297His | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1284C>G | p.Asn428Lys | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1317T>G | p.Asn439Lys | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.1690A>C | p.Asn564His | NM_000527 | 30x (HET: 30, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.534T>G | p.Asp178Glu | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.660del | p.Asp221Thrfs*44 | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.671A>T | p.Asp224Val | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.681C>G | p.Asp227Glu | NM_000527 | 4x (HET: 4, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.796G>A | p.Asp266Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.910G>A | p.Asp304Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1061A>G | p.Asp354Gly | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1243G>C | p.Asp415His | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1414G>T | p.Asp472Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1429G>A | p.Asp477Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.1444G>A | p.Asp482Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1475A>G | p.Asp492Gly | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1765G>A | p.Asp589Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.1864G>A | p.Asp622Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.268G>A | p.Asp90Asn | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.270T>A | p.Asp90Glu | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.326G>A | p.Cys109Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.361T>G | p.Cys121Gly | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.429C>A | p.Cys143* | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.443G>A | p.Cys148Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.464G>A | p.Cys155Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.501C>A | p.Cys167* | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.552T>G | p.Cys184Trp | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.590G>A | p.Cys197Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.647G>A | p.Cys216Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.742T>G | p.Cys248Gly | NM_000527 | 2x (HET: 2, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.763T>C | p.Cys255Arg | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.906C>G | p.Cys302Trp | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1102T>G | p.Cys368Gly | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1176C>A | p.Cys392* | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2043C>A | p.Cys681* | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2093G>A | p.Cys698Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.301G>A | p.Glu101Lys | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.337G>A | p.Glu113Lys | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.682G>A | p.Glu228Lys | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.862G>A | p.Glu288Lys | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.4G>C | p.Gly2Arg | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.1027G>A | p.Gly343Ser | NM_000527 | 5x (HET: 4, HOM: 1) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1432G>A | p.Gly478Arg | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1433G>A | p.Gly478Glu | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1646G>A | p.Gly549Asp | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1646G>T | p.Gly549Val | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1694G>A | p.Gly565Asp | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1775G>A | p.Gly592Glu | NM_000527 | 8x (HET: 8, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2027del | p.Gly676Alafs*33 | NM_000527 | 3x (HET: 0, HOM: 3) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.292G>A | p.Gly98Ser | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.980dup | p.His327Glnfs*5 | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1747C>T | p.His583Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1867_1868del | p.Ile623Hisfs*21 | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1154T>C | p.Leu385Pro | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1265T>C | p.Leu422Pro | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1128G>C | p.Lys376Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.1519A>G | p.Lys507Glu | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1592T>G | p.Met531Arg | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2123T>C | p.Met708Thr | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.846C>A | p.Phe282Leu | NM_000527 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.485C>G | p.Pro162Arg | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.2054C>T | p.Pro685Leu | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2096C>T | p.Pro699Leu | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.530C>T | p.Ser177Leu | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.858C>A | p.Ser286Arg | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.917C>T | p.Ser306Leu | NM_000527 | 11x (HET: 11, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1478_1479del | p.Ser493Cysfs*42 | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1549T>C | p.Ser517Pro | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1399_1400delinsTA | p.Thr467Tyr | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.1700C>A | p.Thr567Asn | NM_000527 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | LDLR | GRCH37 | 19 | c.131G>A | p.Trp44* | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1448G>A | p.Trp483* | NM_000527 | 3x (HET: 3, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1729T>C | p.Trp577Arg | NM_000527 | 4x (HET: 4, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1731G>T | p.Trp577Cys | NM_000527 | 2x (HET: 0, HOM: 2) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1200C>A | p.Tyr400* | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1285G>A | p.Val429Met | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1307T>C | p.Val436Ala | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.1567G>A | p.Val523Met | NM_000527 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2389G>T | p.Val797Leu | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2389G>A | p.Val797Met | NM_000527 | 1x (HET: 1, HOM: 0) | 5 pathogeen |
| 2022 | LDLR | GRCH37 | 19 | c.2416dup | p.Val806Glyfs*11 | NM_000527 | 3x (HET: 1, HOM: 2) | 5 pathogeen |
| 2022 | PCSK9 | GRCH37 | 1 | c.-331C>A | p.? | NM_174936 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | PCSK9 | GRCH37 | 1 | c.658G>A | p.Ala220Thr | NM_174936 | 6x (HET: 6, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | PCSK9 | GRCH37 | 1 | c.1487G>A | p.Arg496Gln | NM_174936 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | PCSK9 | GRCH37 | 1 | c.1486C>T | p.Arg496Trp | NM_174936 | 2x (HET: 2, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | PCSK9 | GRCH37 | 1 | c.1274A>G | p.Asn425Ser | NM_174936 | 2x (HET: 2, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | PCSK9 | GRCH37 | 1 | c.589G>A | p.Glu197Lys | NM_174936 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
| 2022 | PCSK9 | GRCH37 | 1 | c.142G>A | p.Glu48Lys | NM_174936 | 1x (HET: 1, HOM: 0) | 4 waarschijnlijk pathogeen |
| 2022 | PCSK9 | GRCH37 | 1 | c.1399C>G | p.Pro467Ala | NM_174936 | 2x (HET: 2, HOM: 0) | 5 pathogeen |
| 2022 | PCSK9 | GRCH37 | 1 | c.1268T>C | p.Val423Ala | NM_174936 | 1x (HET: 1, HOM: 0) | 3 pathogeniciteit onduidelijk |
Toelichting bij de data
- Herkomst data
- Amsterdam UMC, locatie VUmc, afdeling Humane Genetica, Lab Genoomanalyse.
- Archief tot 2016
- De data tot 2016 komt uit JoJo Genetics. Die set is bevroren en wordt niet meer herzien.
- Bijgewerkt tot
- 2025. We streven ernaar de data jaarlijks bij te werken.
- Vragen en eigenaar data
- Amsterdam UMC, afdeling Humane Genetica, Lab Genoomanalyse is eigenaar van de gegevens. Stichting LEEFH faciliteert op haar website de presentatie ervan. Vragen over de data gaan naar Linda Zuurbier, l.c.zuurbier@amsterdamumc.nl.
Gebruikte afkortingen
- Ref. Genoom
- referentiegenoom (reference genome)
- HET
- heterozygous
- HOM
- homozygous
- MOS
- mosaic
