| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23548051_23548052delinsTA | CA2290169755 | NPC1 | c.1711_1712delinsTA (p.Tyr571=) n.1625_1626delinsTA c.836-2903_836-2902delinsTA c.1762_1763delinsTA (p.Tyr588=) c.1297_1298delinsTA (p.Tyr433=) | |
| 18 | g.23548052del | CA16041915 | NPC1 | c.1711del (p.Tyr571IlefsTer21) n.1625del c.836-2903del c.1762del (p.Tyr588IlefsTer21) c.1297del (p.Tyr433IlefsTer21) | ClinVar dbSNP |
| 18 | g.23548052A>C | CA401773622 | NPC1 | c.1711T>G (p.Tyr571Asp) n.1625T>G c.836-2903T>G c.1762T>G (p.Tyr588Asp) c.1297T>G (p.Tyr433Asp) | |
| 18 | g.23548052A>G | CA401773626 | NPC1 | c.1711T>C (p.Tyr571His) n.1625T>C c.836-2903T>C c.1762T>C (p.Tyr588His) c.1297T>C (p.Tyr433His) | gnomAD v4 |
| 18 | g.23548052A>T | CA401773628 | NPC1 | c.1711T>A (p.Tyr571Asn) n.1625T>A c.836-2903T>A c.1762T>A (p.Tyr588Asn) c.1297T>A (p.Tyr433Asn) | |
| 18 | g.23548053G>A | CA503324802 | NPC1 | c.1710C>T (p.Tyr570=) n.1624C>T c.836-2904C>T c.1761C>T (p.Tyr587=) c.1296C>T (p.Tyr432=) | |
| 18 | g.23548053G>C | CA401773634 | NPC1 | c.1710C>G (p.Tyr570Ter) n.1624C>G c.836-2904C>G c.1761C>G (p.Tyr587Ter) c.1296C>G (p.Tyr432Ter) | |
| 18 | g.23548053G>T | CA401773639 | NPC1 | c.1710C>A (p.Tyr570Ter) n.1624C>A c.836-2904C>A c.1761C>A (p.Tyr587Ter) c.1296C>A (p.Tyr432Ter) | |
| 18 | g.23548054T>A | CA401773642 | NPC1 | c.1709A>T (p.Tyr570Phe) n.1623A>T c.836-2905A>T c.1760A>T (p.Tyr587Phe) c.1295A>T (p.Tyr432Phe) | |
| 18 | g.23548054T>C | CA8913390 | NPC1 | c.1709A>G (p.Tyr570Cys) n.1623A>G c.836-2905A>G c.1760A>G (p.Tyr587Cys) c.1295A>G (p.Tyr432Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23548054T>G | CA401773648 | NPC1 | c.1709A>C (p.Tyr570Ser) n.1623A>C c.836-2905A>C c.1760A>C (p.Tyr587Ser) c.1295A>C (p.Tyr432Ser) | |
| 18 | g.23548054T= | CA2290169756 | NPC1 | c.1709A= (p.Tyr570=) n.1623A= c.836-2905A= c.1760A= (p.Tyr587=) c.1295A= (p.Tyr432=) | |
| 18 | g.23548054dup | CA2641271540 | NPC1 | c.1709dup (p.Tyr570Ter) n.1623dup c.836-2905dup c.1760dup (p.Tyr587Ter) c.1295dup (p.Tyr432Ter) | gnomAD v4 |
| 18 | g.23548055A>C | CA401773661 | NPC1 | c.1708T>G (p.Tyr570Asp) n.1622T>G c.836-2906T>G c.1759T>G (p.Tyr587Asp) c.1294T>G (p.Tyr432Asp) | |
| 18 | g.23548055A>G | CA401773657 | NPC1 | c.1708T>C (p.Tyr570His) n.1622T>C c.836-2906T>C c.1759T>C (p.Tyr587His) c.1294T>C (p.Tyr432His) | |
| 18 | g.23548055A>T | CA401773653 | NPC1 | c.1708T>A (p.Tyr570Asn) n.1622T>A c.836-2906T>A c.1759T>A (p.Tyr587Asn) c.1294T>A (p.Tyr432Asn) | |
| 18 | g.23548056A>C | CA401773665 | NPC1 | c.1707T>G (p.Asn569Lys) n.1621T>G c.836-2907T>G c.1758T>G (p.Asn586Lys) c.1293T>G (p.Asn431Lys) | |
| 18 | g.23548056A>G | CA503324803 | NPC1 | c.1707T>C (p.Asn569=) n.1621T>C c.836-2907T>C c.1758T>C (p.Asn586=) c.1293T>C (p.Asn431=) | |
| 18 | g.23548056A>T | CA401773668 | NPC1 | c.1707T>A (p.Asn569Lys) n.1621T>A c.836-2907T>A c.1758T>A (p.Asn586Lys) c.1293T>A (p.Asn431Lys) | |
| 18 | g.23548057T>A | CA401773673 | NPC1 | c.1706A>T (p.Asn569Ile) n.1620A>T c.836-2908A>T c.1757A>T (p.Asn586Ile) c.1292A>T (p.Asn431Ile) | |
| 18 | g.23548057T>C | CA401773680 | NPC1 | c.1706A>G (p.Asn569Ser) n.1620A>G c.836-2908A>G c.1757A>G (p.Asn586Ser) c.1292A>G (p.Asn431Ser) | |
| 18 | g.23548057T>G | CA401773681 | NPC1 | c.1706A>C (p.Asn569Thr) n.1620A>C c.836-2908A>C c.1757A>C (p.Asn586Thr) c.1292A>C (p.Asn431Thr) | |
| 18 | g.23548058T>A | CA401773683 | NPC1 | c.1705A>T (p.Asn569Tyr) n.1619A>T c.836-2909A>T c.1756A>T (p.Asn586Tyr) c.1291A>T (p.Asn431Tyr) | |
| 18 | g.23548058T>C | CA401773685 | NPC1 | c.1705A>G (p.Asn569Asp) n.1619A>G c.836-2909A>G c.1756A>G (p.Asn586Asp) c.1291A>G (p.Asn431Asp) | |
| 18 | g.23548058T>G | CA401773688 | NPC1 | c.1705A>C (p.Asn569His) n.1619A>C c.836-2909A>C c.1756A>C (p.Asn586His) c.1291A>C (p.Asn431His) | |
| 18 | g.23548059A>C | CA401773692 | NPC1 | c.1704T>G (p.Asn568Lys) n.1618T>G c.836-2910T>G c.1755T>G (p.Asn585Lys) c.1290T>G (p.Asn430Lys) | |
| 18 | g.23548059A>G | CA503324804 | NPC1 | c.1704T>C (p.Asn568=) n.1618T>C c.836-2910T>C c.1755T>C (p.Asn585=) c.1290T>C (p.Asn430=) | |
| 18 | g.23548059A>T | CA401773696 | NPC1 | c.1704T>A (p.Asn568Lys) n.1618T>A c.836-2910T>A c.1755T>A (p.Asn585Lys) c.1290T>A (p.Asn430Lys) | |
| 18 | g.23548060T>A | CA401773700 | NPC1 | c.1703A>T (p.Asn568Ile) n.1617A>T c.836-2911A>T c.1754A>T (p.Asn585Ile) c.1289A>T (p.Asn430Ile) | |
| 18 | g.23548060T>C | CA401773704 | NPC1 | c.1703A>G (p.Asn568Ser) n.1617A>G c.836-2911A>G c.1754A>G (p.Asn585Ser) c.1289A>G (p.Asn430Ser) | dbSNP |
| 18 | g.23548060T>G | CA401773707 | NPC1 | c.1703A>C (p.Asn568Thr) n.1617A>C c.836-2911A>C c.1754A>C (p.Asn585Thr) c.1289A>C (p.Asn430Thr) | |
| 18 | g.23548060T= | CA2290169757 | NPC1 | c.1703A= (p.Asn568=) n.1617A= c.836-2911A= c.1754A= (p.Asn585=) c.1289A= (p.Asn430=) | |
| 18 | g.23548061T>A | CA401773716 | NPC1 | c.1702A>T (p.Asn568Tyr) n.1616A>T c.836-2912A>T c.1753A>T (p.Asn585Tyr) c.1288A>T (p.Asn430Tyr) | |
| 18 | g.23548061T>C | CA401773713 | NPC1 | c.1702A>G (p.Asn568Asp) n.1616A>G c.836-2912A>G c.1753A>G (p.Asn585Asp) c.1288A>G (p.Asn430Asp) | gnomAD v4 |
| 18 | g.23548061T>G | CA8913391 | NPC1 | c.1702A>C (p.Asn568His) n.1616A>C c.836-2912A>C c.1753A>C (p.Asn585His) c.1288A>C (p.Asn430His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23548061T= | CA2290169758 | NPC1 | c.1702A= (p.Asn568=) n.1616A= c.836-2912A= c.1753A= (p.Asn585=) c.1288A= (p.Asn430=) | |
| 18 | g.23548062G>A | CA503324805 | NPC1 | c.1701C>T (p.Val567=) n.1615C>T c.836-2913C>T c.1752C>T (p.Val584=) c.1287C>T (p.Val429=) | |
| 18 | g.23548062G>C | CA8913392 | NPC1 | c.1701C>G (p.Val567=) n.1615C>G c.836-2913C>G c.1752C>G (p.Val584=) c.1287C>G (p.Val429=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23548062G= | CA2290169759 | NPC1 | c.1701C= (p.Val567=) n.1615C= c.836-2913C= c.1752C= (p.Val584=) c.1287C= (p.Val429=) | |
| 18 | g.23548062G>T | CA503324806 | NPC1 | c.1701C>A (p.Val567=) n.1615C>A c.836-2913C>A c.1752C>A (p.Val584=) c.1287C>A (p.Val429=) | gnomAD v4 |
| 18 | g.23548063A>C | CA401773723 | NPC1 | c.1700T>G (p.Val567Gly) n.1614T>G c.836-2914T>G c.1751T>G (p.Val584Gly) c.1286T>G (p.Val429Gly) | |
| 18 | g.23548063A>G | CA401773726 | NPC1 | c.1700T>C (p.Val567Ala) n.1614T>C c.836-2914T>C c.1751T>C (p.Val584Ala) c.1286T>C (p.Val429Ala) | |
| 18 | g.23548063A>T | CA401773729 | NPC1 | c.1700T>A (p.Val567Asp) n.1614T>A c.836-2914T>A c.1751T>A (p.Val584Asp) c.1286T>A (p.Val429Asp) | |
| 18 | g.23548064C>A | CA401773733 | NPC1 | c.1699G>T (p.Val567Phe) n.1613G>T c.836-2915G>T c.1750G>T (p.Val584Phe) c.1285G>T (p.Val429Phe) | dbSNP |
| 18 | g.23548064C>G | CA401773737 | NPC1 | c.1699G>C (p.Val567Leu) n.1613G>C c.836-2915G>C c.1750G>C (p.Val584Leu) c.1285G>C (p.Val429Leu) | |
| 18 | g.23548064C>T | CA401773742 | NPC1 | c.1699G>A (p.Val567Ile) n.1613G>A c.836-2915G>A c.1750G>A (p.Val584Ile) c.1285G>A (p.Val429Ile) | |
| 18 | g.23548065A>C | CA503324807 | NPC1 | c.1698T>G (p.Pro566=) n.1612T>G c.836-2916T>G c.1749T>G (p.Pro583=) c.1284T>G (p.Pro428=) | |
| 18 | g.23548065A>G | CA503324808 | NPC1 | c.1698T>C (p.Pro566=) n.1612T>C c.836-2916T>C c.1749T>C (p.Pro583=) c.1284T>C (p.Pro428=) | |
| 18 | g.23548065A>T | CA503324809 | NPC1 | c.1698T>A (p.Pro566=) n.1612T>A c.836-2916T>A c.1749T>A (p.Pro583=) c.1284T>A (p.Pro428=) | |
| 18 | g.23548066G>A | CA401773746 | NPC1 | c.1697C>T (p.Pro566Leu) n.1611C>T c.836-2917C>T c.1748C>T (p.Pro583Leu) c.1283C>T (p.Pro428Leu) |