| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 5 | g.96399026C>A | CA360479167 | PCSK1 | c.1441G>T (p.Ala481Ser) c.1300G>T (p.Ala434Ser) n.584G>T n.354+19374C>A | |
| 5 | g.96399026C>G | CA360479169 | PCSK1 | c.1441G>C (p.Ala481Pro) c.1300G>C (p.Ala434Pro) n.584G>C n.354+19374C>G | |
| 5 | g.96399026C>T | CA360479171 | PCSK1 | c.1441G>A (p.Ala481Thr) c.1300G>A (p.Ala434Thr) n.584G>A n.354+19374C>T | COSMIC |
| 5 | g.96399026_96399027delinsCT | CA1565404439 | PCSK1 | c.1440_1441delinsAG (p.Lys480=) c.1299_1300delinsAG (p.Lys433=) n.583_584delinsAG n.354+19374_354+19375delinsCT | |
| 5 | g.96399027T>A | CA360479173 | PCSK1 | c.1440A>T (p.Lys480Asn) c.1299A>T (p.Lys433Asn) n.583A>T n.354+19375T>A | |
| 5 | g.96399027T>C | CA445491657 | PCSK1 | c.1440A>G (p.Lys480=) c.1299A>G (p.Lys433=) n.583A>G n.354+19375T>C | |
| 5 | g.96399027T>G | CA360479175 | PCSK1 | c.1440A>C (p.Lys480Asn) c.1299A>C (p.Lys433Asn) n.583A>C n.354+19375T>G | |
| 5 | g.96399029del | CA3350208 | PCSK1 | c.1440del (p.Ala481LeufsTer?) c.1299del (p.Ala434LeufsTer?) n.583del n.354+19377del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96399028T>A | CA360479177 | PCSK1 | c.1439A>T (p.Lys480Ile) c.1298A>T (p.Lys433Ile) n.582A>T n.354+19376T>A | |
| 5 | g.96399028T>C | CA360479179 | PCSK1 | c.1439A>G (p.Lys480Arg) c.1298A>G (p.Lys433Arg) n.582A>G n.354+19376T>C | |
| 5 | g.96399028T>G | CA360479181 | PCSK1 | c.1439A>C (p.Lys480Thr) c.1298A>C (p.Lys433Thr) n.582A>C n.354+19376T>G | |
| 5 | g.96399029T>A | CA360479183 | PCSK1 | c.1438A>T (p.Lys480Ter) c.1297A>T (p.Lys433Ter) n.581A>T n.354+19377T>A | |
| 5 | g.96399029T>C | CA360479187 | PCSK1 | c.1438A>G (p.Lys480Glu) c.1297A>G (p.Lys433Glu) n.581A>G n.354+19377T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96399029T>G | CA360479185 | PCSK1 | c.1438A>C (p.Lys480Gln) c.1297A>C (p.Lys433Gln) n.581A>C n.354+19377T>G | COSMIC |
| 5 | g.96399029T= | CA1565404440 | PCSK1 | c.1438A= (p.Lys480=) c.1297A= (p.Lys433=) n.581A= n.354+19377T= | |
| 5 | g.96399030C>A | CA445491659 | PCSK1 | c.1437G>T (p.Leu479=) c.1296G>T (p.Leu432=) n.580G>T n.354+19378C>A | |
| 5 | g.96399030C>G | CA445491660 | PCSK1 | c.1437G>C (p.Leu479=) c.1296G>C (p.Leu432=) n.580G>C n.354+19378C>G | |
| 5 | g.96399030C>T | CA445491661 | PCSK1 | c.1437G>A (p.Leu479=) c.1296G>A (p.Leu432=) n.580G>A n.354+19378C>T | |
| 5 | g.96399031A>C | CA360479189 | PCSK1 | c.1436T>G (p.Leu479Arg) c.1295T>G (p.Leu432Arg) n.579T>G n.354+19379A>C | |
| 5 | g.96399031A>G | CA360479192 | PCSK1 | c.1436T>C (p.Leu479Pro) c.1295T>C (p.Leu432Pro) n.579T>C n.354+19379A>G | gnomAD v4 |
| 5 | g.96399031A>T | CA360479191 | PCSK1 | c.1436T>A (p.Leu479Gln) c.1295T>A (p.Leu432Gln) n.579T>A n.354+19379A>T | |
| 5 | g.96399032G>A | CA445491662 | PCSK1 | c.1435C>T (p.Leu479=) c.1294C>T (p.Leu432=) n.578C>T n.354+19380G>A | |
| 5 | g.96399032G>C | CA360479194 | PCSK1 | c.1435C>G (p.Leu479Val) c.1294C>G (p.Leu432Val) n.578C>G n.354+19380G>C | |
| 5 | g.96399032G>T | CA360479195 | PCSK1 | c.1435C>A (p.Leu479Met) c.1294C>A (p.Leu432Met) n.578C>A n.354+19380G>T | |
| 5 | g.96399033G>A | CA3350209 | PCSK1 | c.1434C>T (p.Ala478=) c.1293C>T (p.Ala431=) n.577C>T n.354+19381G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96399033G>C | CA445491665 | PCSK1 | c.1434C>G (p.Ala478=) c.1293C>G (p.Ala431=) n.577C>G n.354+19381G>C | |
| 5 | g.96399033G= | CA1565404441 | PCSK1 | c.1434C= (p.Ala478=) c.1293C= (p.Ala431=) n.577C= n.354+19381G= | |
| 5 | g.96399033G>T | CA445491664 | PCSK1 | c.1434C>A (p.Ala478=) c.1293C>A (p.Ala431=) n.577C>A n.354+19381G>T | |
| 5 | g.96399034G>A | CA360479201 | PCSK1 | c.1433C>T (p.Ala478Val) c.1292C>T (p.Ala431Val) n.576C>T n.354+19382G>A |