Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23544960_23545032del | CA2695227328 | NPC1 | c.1875_1947del (p.Ile626TrpfsTer7) n.1789_1861del c.953_1025del c.1926_1998del (p.Ile643TrpfsTer7) c.1461_1533del (p.Ile488TrpfsTer7) | |
18 | g.23544998G>A | CA503521907 | NPC1 | c.1909C>T (p.Leu637=) n.1823C>T c.987C>T c.1960C>T (p.Leu654=) c.1495C>T (p.Leu499=) | |
18 | g.23544998G>C | CA8913346 | NPC1 | c.1909C>G (p.Leu637Val) n.1823C>G c.987C>G c.1960C>G (p.Leu654Val) c.1495C>G (p.Leu499Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23544998G= | CA2290168373 | NPC1 | c.1909C= (p.Leu637=) n.1823C= c.987C= c.1960C= (p.Leu654=) c.1495C= (p.Leu499=) | |
18 | g.23544998G>T | CA401772215 | NPC1 | c.1909C>A (p.Leu637Ile) n.1823C>A c.987C>A c.1960C>A (p.Leu654Ile) c.1495C>A (p.Leu499Ile) | gnomAD v4 |
18 | g.23544999G>A | CA503521910 | NPC1 | c.1908C>T (p.Ser636=) n.1822C>T c.986C>T c.1959C>T (p.Ser653=) c.1494C>T (p.Ser498=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23544999G>C | CA503521912 | NPC1 | c.1908C>G (p.Ser636=) n.1822C>G c.986C>G c.1959C>G (p.Ser653=) c.1494C>G (p.Ser498=) | |
18 | g.23544999G= | CA2290168374 | NPC1 | c.1908C= (p.Ser636=) n.1822C= c.986C= c.1959C= (p.Ser653=) c.1494C= (p.Ser498=) | |
18 | g.23544999G>T | CA503521911 | NPC1 | c.1908C>A (p.Ser636=) n.1822C>A c.986C>A c.1959C>A (p.Ser653=) c.1494C>A (p.Ser498=) | |
18 | g.23545000G>A | CA401772218 | NPC1 | c.1907C>T (p.Ser636Phe) n.1821C>T c.985C>T c.1958C>T (p.Ser653Phe) c.1493C>T (p.Ser498Phe) | COSMIC |
18 | g.23545000G>C | CA401772216 | NPC1 | c.1907C>G (p.Ser636Cys) n.1821C>G c.985C>G c.1958C>G (p.Ser653Cys) c.1493C>G (p.Ser498Cys) | |
18 | g.23545000G= | CA2290168375 | NPC1 | c.1907C= (p.Ser636=) n.1821C= c.985C= c.1958C= (p.Ser653=) c.1493C= (p.Ser498=) | |
18 | g.23545000G>T | CA401772217 | NPC1 | c.1907C>A (p.Ser636Tyr) n.1821C>A c.985C>A c.1958C>A (p.Ser653Tyr) c.1493C>A (p.Ser498Tyr) | |
18 | g.23545001A= | CA2290168376 | NPC1 | c.1906T= (p.Ser636=) n.1820T= c.984T= c.1957T= (p.Ser653=) c.1492T= (p.Ser498=) | |
18 | g.23545001A>C | CA8913347 | NPC1 | c.1906T>G (p.Ser636Ala) n.1820T>G c.984T>G c.1957T>G (p.Ser653Ala) c.1492T>G (p.Ser498Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545001A>G | CA401772219 | NPC1 | c.1906T>C (p.Ser636Pro) n.1820T>C c.984T>C c.1957T>C (p.Ser653Pro) c.1492T>C (p.Ser498Pro) | COSMIC COSMIC |
18 | g.23545001A>T | CA401772220 | NPC1 | c.1906T>A (p.Ser636Thr) n.1820T>A c.984T>A c.1957T>A (p.Ser653Thr) c.1492T>A (p.Ser498Thr) | |
18 | g.23545002_23545005dup | CA1139665983 | NPC1 | c.1903_1906dup (p.Ser636TyrfsTer?) n.1817_1820dup c.981_984dup c.1954_1957dup (p.Ser653TyrfsTer?) c.1489_1492dup (p.Ser498TyrfsTer?) | ClinVar dbSNP |
18 | g.23545002A>C | CA401772221 | NPC1 | c.1905T>G (p.Ile635Met) n.1819T>G c.983T>G c.1956T>G (p.Ile652Met) c.1491T>G (p.Ile497Met) | |
18 | g.23545002A>G | CA503521914 | NPC1 | c.1905T>C (p.Ile635=) n.1819T>C c.983T>C c.1956T>C (p.Ile652=) c.1491T>C (p.Ile497=) | |
18 | g.23545002A>T | CA503521915 | NPC1 | c.1905T>A (p.Ile635=) n.1819T>A c.983T>A c.1956T>A (p.Ile652=) c.1491T>A (p.Ile497=) | |
18 | g.23545002delinsCAT | CA2695227329 | NPC1 | c.1905delinsATG (p.Ser636CysfsTer3) n.1819delinsATG c.983delinsATG c.1956delinsATG (p.Ser653CysfsTer3) c.1491delinsATG (p.Ser498CysfsTer3) | |
18 | g.23545003A>C | CA401772222 | NPC1 | c.1904T>G (p.Ile635Ser) n.1818T>G c.982T>G c.1955T>G (p.Ile652Ser) c.1490T>G (p.Ile497Ser) | |
18 | g.23545003A>G | CA401772223 | NPC1 | c.1904T>C (p.Ile635Thr) n.1818T>C c.982T>C c.1955T>C (p.Ile652Thr) c.1490T>C (p.Ile497Thr) | |
18 | g.23545003A>T | CA401772224 | NPC1 | c.1904T>A (p.Ile635Asn) n.1818T>A c.982T>A c.1955T>A (p.Ile652Asn) c.1490T>A (p.Ile497Asn) | |
18 | g.23545004T>A | CA401772225 | NPC1 | c.1903A>T (p.Ile635Phe) n.1817A>T c.981A>T c.1954A>T (p.Ile652Phe) c.1489A>T (p.Ile497Phe) | |
18 | g.23545004T>C | CA401772226 | NPC1 | c.1903A>G (p.Ile635Val) n.1817A>G c.981A>G c.1954A>G (p.Ile652Val) c.1489A>G (p.Ile497Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23545004T>G | CA401772227 | NPC1 | c.1903A>C (p.Ile635Leu) n.1817A>C c.981A>C c.1954A>C (p.Ile652Leu) c.1489A>C (p.Ile497Leu) | |
18 | g.23545004T= | CA2290168377 | NPC1 | c.1903A= (p.Ile635=) n.1817A= c.981A= c.1954A= (p.Ile652=) c.1489A= (p.Ile497=) | |
18 | g.23545005A= | CA2290168378 | NPC1 | c.1902T= (p.Tyr634=) n.1816T= c.980T= c.1953T= (p.Tyr651=) c.1488T= (p.Tyr496=) | |
18 | g.23545005A>C | CA401772228 | NPC1 | c.1902T>G (p.Tyr634Ter) n.1816T>G c.980T>G c.1953T>G (p.Tyr651Ter) c.1488T>G (p.Tyr496Ter) | |
18 | g.23545005A>G | CA8913348 | NPC1 | c.1902T>C (p.Tyr634=) n.1816T>C c.980T>C c.1953T>C (p.Tyr651=) c.1488T>C (p.Tyr496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545005A>T | CA401772229 | NPC1 | c.1902T>A (p.Tyr634Ter) n.1816T>A c.980T>A c.1953T>A (p.Tyr651Ter) c.1488T>A (p.Tyr496Ter) | |
18 | g.23545006_23545013dup | CA2576471009 | NPC1 | c.1895_1902dup (p.Ile635PhefsTer6) n.1809_1816dup c.973_980dup c.1946_1953dup (p.Ile652PhefsTer6) c.1481_1488dup (p.Ile497PhefsTer6) | |
18 | g.23545006T>A | CA401772234 | NPC1 | c.1901A>T (p.Tyr634Phe) n.1815A>T c.979A>T c.1952A>T (p.Tyr651Phe) c.1487A>T (p.Tyr496Phe) | ClinVar dbSNP gnomAD v4 |
18 | g.23545006T>C | CA297060739 | NPC1 | c.1901A>G (p.Tyr634Cys) n.1815A>G c.979A>G c.1952A>G (p.Tyr651Cys) c.1487A>G (p.Tyr496Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545006T>G | CA401772231 | NPC1 | c.1901A>C (p.Tyr634Ser) n.1815A>C c.979A>C c.1952A>C (p.Tyr651Ser) c.1487A>C (p.Tyr496Ser) | |
18 | g.23545006T= | CA2290168379 | NPC1 | c.1901A= (p.Tyr634=) n.1815A= c.979A= c.1952A= (p.Tyr651=) c.1487A= (p.Tyr496=) | |
18 | g.23545007A>C | CA401772237 | NPC1 | c.1900T>G (p.Tyr634Asp) n.1814T>G c.978T>G c.1951T>G (p.Tyr651Asp) c.1486T>G (p.Tyr496Asp) | |
18 | g.23545007A>G | CA401772238 | NPC1 | c.1900T>C (p.Tyr634His) n.1814T>C c.978T>C c.1951T>C (p.Tyr651His) c.1486T>C (p.Tyr496His) | |
18 | g.23545007A>T | CA401772240 | NPC1 | c.1900T>A (p.Tyr634Asn) n.1814T>A c.978T>A c.1951T>A (p.Tyr651Asn) c.1486T>A (p.Tyr496Asn) | ClinVar |
18 | g.23545008T>A | CA503521920 | NPC1 | c.1899A>T (p.Leu633=) n.1813A>T c.977A>T c.1950A>T (p.Leu650=) c.1485A>T (p.Leu495=) | |
18 | g.23545008T>C | CA503521921 | NPC1 | c.1899A>G (p.Leu633=) n.1813A>G c.977A>G c.1950A>G (p.Leu650=) c.1485A>G (p.Leu495=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23545008T>G | CA503521919 | NPC1 | c.1899A>C (p.Leu633=) n.1813A>C c.977A>C c.1950A>C (p.Leu650=) c.1485A>C (p.Leu495=) | |
18 | g.23545008T= | CA2290168380 | NPC1 | c.1899A= (p.Leu633=) n.1813A= c.977A= c.1950A= (p.Leu650=) c.1485A= (p.Leu495=) | |
18 | g.23545009A>C | CA401772243 | NPC1 | c.1898T>G (p.Leu633Arg) n.1812T>G c.976T>G c.1949T>G (p.Leu650Arg) c.1484T>G (p.Leu495Arg) | |
18 | g.23545009A>G | CA401772245 | NPC1 | c.1898T>C (p.Leu633Pro) n.1812T>C c.976T>C c.1949T>C (p.Leu650Pro) c.1484T>C (p.Leu495Pro) | |
18 | g.23545009A>T | CA401772246 | NPC1 | c.1898T>A (p.Leu633Gln) n.1812T>A c.976T>A c.1949T>A (p.Leu650Gln) c.1484T>A (p.Leu495Gln) | |
18 | g.23545010G>A | CA503521922 | NPC1 | c.1897C>T (p.Leu633=) n.1811C>T c.975C>T c.1948C>T (p.Leu650=) c.1483C>T (p.Leu495=) | |
18 | g.23545010G>C | CA401772249 | NPC1 | c.1897C>G (p.Leu633Val) n.1811C>G c.975C>G c.1948C>G (p.Leu650Val) c.1483C>G (p.Leu495Val) | dbSNP gnomAD v4 |
18 | g.23545010G= | CA2290168381 | NPC1 | c.1897C= (p.Leu633=) n.1811C= c.975C= c.1948C= (p.Leu650=) c.1483C= (p.Leu495=) | |
18 | g.23545010G>T | CA401772251 | NPC1 | c.1897C>A (p.Leu633Ile) n.1811C>A c.975C>A c.1948C>A (p.Leu650Ile) c.1483C>A (p.Leu495Ile) | |
18 | g.23545011A>C | CA401772255 | NPC1 | c.1896T>G (p.Phe632Leu) n.1810T>G c.974T>G c.1947T>G (p.Phe649Leu) c.1482T>G (p.Phe494Leu) | |
18 | g.23545011A>G | CA503521923 | NPC1 | c.1896T>C (p.Phe632=) n.1810T>C c.974T>C c.1947T>C (p.Phe649=) c.1482T>C (p.Phe494=) | |
18 | g.23545011A>T | CA401772257 | NPC1 | c.1896T>A (p.Phe632Leu) n.1810T>A c.974T>A c.1947T>A (p.Phe649Leu) c.1482T>A (p.Phe494Leu) | |
18 | g.23545012A>C | CA401772259 | NPC1 | c.1895T>G (p.Phe632Cys) n.1809T>G c.973T>G c.1946T>G (p.Phe649Cys) c.1481T>G (p.Phe494Cys) | |
18 | g.23545012A>G | CA401772261 | NPC1 | c.1895T>C (p.Phe632Ser) n.1809T>C c.973T>C c.1946T>C (p.Phe649Ser) c.1481T>C (p.Phe494Ser) | |
18 | g.23545012A>T | CA401772263 | NPC1 | c.1895T>A (p.Phe632Tyr) n.1809T>A c.973T>A c.1946T>A (p.Phe649Tyr) c.1481T>A (p.Phe494Tyr) | |
18 | g.23545013A>C | CA401772269 | NPC1 | c.1894T>G (p.Phe632Val) n.1808T>G c.972T>G c.1945T>G (p.Phe649Val) c.1480T>G (p.Phe494Val) | |
18 | g.23545013A>G | CA401772271 | NPC1 | c.1894T>C (p.Phe632Leu) n.1808T>C c.972T>C c.1945T>C (p.Phe649Leu) c.1480T>C (p.Phe494Leu) | |
18 | g.23545013A>T | CA401772267 | NPC1 | c.1894T>A (p.Phe632Ile) n.1808T>A c.972T>A c.1945T>A (p.Phe649Ile) c.1480T>A (p.Phe494Ile) | |
18 | g.23545014C>A | CA401772275 | NPC1 | c.1893G>T (p.Met631Ile) n.1807G>T c.971G>T c.1944G>T (p.Met648Ile) c.1479G>T (p.Met493Ile) | |
18 | g.23545014C>G | CA401772279 | NPC1 | c.1893G>C (p.Met631Ile) n.1807G>C c.971G>C c.1944G>C (p.Met648Ile) c.1479G>C (p.Met493Ile) | |
18 | g.23545014C>T | CA401772277 | NPC1 | c.1893G>A (p.Met631Ile) n.1807G>A c.971G>A c.1944G>A (p.Met648Ile) c.1479G>A (p.Met493Ile) | |
18 | g.23545015A= | CA2290168382 | NPC1 | c.1892T= (p.Met631=) n.1806T= c.970T= c.1943T= (p.Met648=) c.1478T= (p.Met493=) | |
18 | g.23545015A>C | CA401772280 | NPC1 | c.1892T>G (p.Met631Arg) n.1806T>G c.970T>G c.1943T>G (p.Met648Arg) c.1478T>G (p.Met493Arg) | gnomAD v4 |
18 | g.23545015A>G | CA401772281 | NPC1 | c.1892T>C (p.Met631Thr) n.1806T>C c.970T>C c.1943T>C (p.Met648Thr) c.1478T>C (p.Met493Thr) | dbSNP gnomAD v4 |
18 | g.23545015A>T | CA401772283 | NPC1 | c.1892T>A (p.Met631Lys) n.1806T>A c.970T>A c.1943T>A (p.Met648Lys) c.1478T>A (p.Met493Lys) | |
18 | g.23545016T>A | CA401772286 | NPC1 | c.1891A>T (p.Met631Leu) n.1805A>T c.969A>T c.1942A>T (p.Met648Leu) c.1477A>T (p.Met493Leu) | |
18 | g.23545016T>C | CA401772288 | NPC1 | c.1891A>G (p.Met631Val) n.1805A>G c.969A>G c.1942A>G (p.Met648Val) c.1477A>G (p.Met493Val) | |
18 | g.23545016T>G | CA401772290 | NPC1 | c.1891A>C (p.Met631Leu) n.1805A>C c.969A>C c.1942A>C (p.Met648Leu) c.1477A>C (p.Met493Leu) | |
18 | g.23545017G>A | CA503521930 | NPC1 | c.1890C>T (p.Ile630=) n.1804C>T c.968C>T c.1941C>T (p.Ile647=) c.1476C>T (p.Ile492=) | gnomAD v4 |
18 | g.23545017G>C | CA401772292 | NPC1 | c.1890C>G (p.Ile630Met) n.1804C>G c.968C>G c.1941C>G (p.Ile647Met) c.1476C>G (p.Ile492Met) | |
18 | g.23545017G>T | CA503521931 | NPC1 | c.1890C>A (p.Ile630=) n.1804C>A c.968C>A c.1941C>A (p.Ile647=) c.1476C>A (p.Ile492=) | |
18 | g.23545018A= | CA2290168383 | NPC1 | c.1889T= (p.Ile630=) n.1803T= c.967T= c.1940T= (p.Ile647=) c.1475T= (p.Ile492=) | |
18 | g.23545018A>C | CA401772295 | NPC1 | c.1889T>G (p.Ile630Ser) n.1803T>G c.967T>G c.1940T>G (p.Ile647Ser) c.1475T>G (p.Ile492Ser) | |
18 | g.23545018A>G | CA8913349 | NPC1 | c.1889T>C (p.Ile630Thr) n.1803T>C c.967T>C c.1940T>C (p.Ile647Thr) c.1475T>C (p.Ile492Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545018A>T | CA401772299 | NPC1 | c.1889T>A (p.Ile630Asn) n.1803T>A c.967T>A c.1940T>A (p.Ile647Asn) c.1475T>A (p.Ile492Asn) | |
18 | g.23545019T>A | CA401772302 | NPC1 | c.1888A>T (p.Ile630Phe) n.1802A>T c.966A>T c.1939A>T (p.Ile647Phe) c.1474A>T (p.Ile492Phe) | |
18 | g.23545019T>C | CA401772304 | NPC1 | c.1888A>G (p.Ile630Val) n.1802A>G c.966A>G c.1939A>G (p.Ile647Val) c.1474A>G (p.Ile492Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23545019T>G | CA401772306 | NPC1 | c.1888A>C (p.Ile630Leu) n.1802A>C c.966A>C c.1939A>C (p.Ile647Leu) c.1474A>C (p.Ile492Leu) | |
18 | g.23545019T= | CA2290168384 | NPC1 | c.1888A= (p.Ile630=) n.1802A= c.966A= c.1939A= (p.Ile647=) c.1474A= (p.Ile492=) | |
18 | g.23545020G>A | CA503521933 | NPC1 | c.1887C>T (p.Ala629=) n.1801C>T c.965C>T c.1938C>T (p.Ala646=) c.1473C>T (p.Ala491=) | ClinVar gnomAD v4 |
18 | g.23545020G>C | CA503521934 | NPC1 | c.1887C>G (p.Ala629=) n.1801C>G c.965C>G c.1938C>G (p.Ala646=) c.1473C>G (p.Ala491=) | |
18 | g.23545020G>T | CA503521935 | NPC1 | c.1887C>A (p.Ala629=) n.1801C>A c.965C>A c.1938C>A (p.Ala646=) c.1473C>A (p.Ala491=) | |
18 | g.23545021G>A | CA401772307 | NPC1 | c.1886C>T (p.Ala629Val) n.1800C>T c.964C>T c.1937C>T (p.Ala646Val) c.1472C>T (p.Ala491Val) | gnomAD v4 |
18 | g.23545021G>C | CA401772312 | NPC1 | c.1886C>G (p.Ala629Gly) n.1800C>G c.964C>G c.1937C>G (p.Ala646Gly) c.1472C>G (p.Ala491Gly) | |
18 | g.23545021G>T | CA401772309 | NPC1 | c.1886C>A (p.Ala629Asp) n.1800C>A c.964C>A c.1937C>A (p.Ala646Asp) c.1472C>A (p.Ala491Asp) | |
18 | g.23545022C>A | CA401772317 | NPC1 | c.1885G>T (p.Ala629Ser) n.1799G>T c.963G>T c.1936G>T (p.Ala646Ser) c.1471G>T (p.Ala491Ser) | |
18 | g.23545022C>G | CA401772319 | NPC1 | c.1885G>C (p.Ala629Pro) n.1799G>C c.963G>C c.1936G>C (p.Ala646Pro) c.1471G>C (p.Ala491Pro) | |
18 | g.23545022C>T | CA401772323 | NPC1 | c.1885G>A (p.Ala629Thr) n.1799G>A c.963G>A c.1936G>A (p.Ala646Thr) c.1471G>A (p.Ala491Thr) | |
18 | g.23545023A>C | CA401772326 | NPC1 | c.1884T>G (p.Tyr628Ter) n.1798T>G c.962T>G c.1935T>G (p.Tyr645Ter) c.1470T>G (p.Tyr490Ter) | |
18 | g.23545023A>G | CA503521937 | NPC1 | c.1884T>C (p.Tyr628=) n.1798T>C c.962T>C c.1935T>C (p.Tyr645=) c.1470T>C (p.Tyr490=) | |
18 | g.23545023A>T | CA401772329 | NPC1 | c.1884T>A (p.Tyr628Ter) n.1798T>A c.962T>A c.1935T>A (p.Tyr645Ter) c.1470T>A (p.Tyr490Ter) | |
18 | g.23545024T>A | CA401772335 | NPC1 | c.1883A>T (p.Tyr628Phe) n.1797A>T c.961A>T c.1934A>T (p.Tyr645Phe) c.1469A>T (p.Tyr490Phe) | |
18 | g.23545024T>C | CA401772338 | NPC1 | c.1883A>G (p.Tyr628Cys) n.1797A>G c.961A>G c.1934A>G (p.Tyr645Cys) c.1469A>G (p.Tyr490Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23545024T>G | CA401772341 | NPC1 | c.1883A>C (p.Tyr628Ser) n.1797A>C c.961A>C c.1934A>C (p.Tyr645Ser) c.1469A>C (p.Tyr490Ser) | ClinVar dbSNP |
18 | g.23545024T= | CA2290168385 | NPC1 | c.1883A= (p.Tyr628=) n.1797A= c.961A= c.1934A= (p.Tyr645=) c.1469A= (p.Tyr490=) | |
18 | g.23545025A= | CA2290168386 | NPC1 | c.1882T= (p.Tyr628=) n.1796T= c.960T= c.1933T= (p.Tyr645=) c.1468T= (p.Tyr490=) | |
18 | g.23545025A>C | CA401772344 | NPC1 | c.1882T>G (p.Tyr628Asp) n.1796T>G c.960T>G c.1933T>G (p.Tyr645Asp) c.1468T>G (p.Tyr490Asp) | |
18 | g.23545025A>G | CA8913350 | NPC1 | c.1882T>C (p.Tyr628His) n.1796T>C c.960T>C c.1933T>C (p.Tyr645His) c.1468T>C (p.Tyr490His) | dbSNP ExAC gnomAD v2 |
18 | g.23545025A>T | CA401772349 | NPC1 | c.1882T>A (p.Tyr628Asn) n.1796T>A c.960T>A c.1933T>A (p.Tyr645Asn) c.1468T>A (p.Tyr490Asn) | |
18 | g.23545026G>A | CA503521941 | NPC1 | c.1881C>T (p.Ser627=) n.1795C>T c.959C>T c.1932C>T (p.Ser644=) c.1467C>T (p.Ser489=) | |
18 | g.23545026G>C | CA401772352 | NPC1 | c.1881C>G (p.Ser627Arg) n.1795C>G c.959C>G c.1932C>G (p.Ser644Arg) c.1467C>G (p.Ser489Arg) | |
18 | g.23545026G>T | CA401772355 | NPC1 | c.1881C>A (p.Ser627Arg) n.1795C>A c.959C>A c.1932C>A (p.Ser644Arg) c.1467C>A (p.Ser489Arg) | |
18 | g.23545027C>A | CA401772360 | NPC1 | c.1880G>T (p.Ser627Ile) n.1794G>T c.958G>T c.1931G>T (p.Ser644Ile) c.1466G>T (p.Ser489Ile) | |
18 | g.23545027C>G | CA401772362 | NPC1 | c.1880G>C (p.Ser627Thr) n.1794G>C c.958G>C c.1931G>C (p.Ser644Thr) c.1466G>C (p.Ser489Thr) | |
18 | g.23545027C>T | CA401772366 | NPC1 | c.1880G>A (p.Ser627Asn) n.1794G>A c.958G>A c.1931G>A (p.Ser644Asn) c.1466G>A (p.Ser489Asn) | |
18 | g.23545028T>A | CA401772370 | NPC1 | c.1879A>T (p.Ser627Cys) n.1793A>T c.957A>T c.1930A>T (p.Ser644Cys) c.1465A>T (p.Ser489Cys) | |
18 | g.23545028T>C | CA401772387 | NPC1 | c.1879A>G (p.Ser627Gly) n.1793A>G c.957A>G c.1930A>G (p.Ser644Gly) c.1465A>G (p.Ser489Gly) | |
18 | g.23545028T>G | CA401772390 | NPC1 | c.1879A>C (p.Ser627Arg) n.1793A>C c.957A>C c.1930A>C (p.Ser644Arg) c.1465A>C (p.Ser489Arg) | |
18 | g.23545029A= | CA2290168387 | NPC1 | c.1878T= (p.Ile626=) n.1792T= c.956T= c.1929T= (p.Ile643=) c.1464T= (p.Ile488=) | |
18 | g.23545029A>C | CA401772394 | NPC1 | c.1878T>G (p.Ile626Met) n.1792T>G c.956T>G c.1929T>G (p.Ile643Met) c.1464T>G (p.Ile488Met) | |
18 | g.23545029A>G | CA503521944 | NPC1 | c.1878T>C (p.Ile626=) n.1792T>C c.956T>C c.1929T>C (p.Ile643=) c.1464T>C (p.Ile488=) | ClinVar dbSNP gnomAD v4 |
18 | g.23545029A>T | CA503521945 | NPC1 | c.1878T>A (p.Ile626=) n.1792T>A c.956T>A c.1929T>A (p.Ile643=) c.1464T>A (p.Ile488=) | |
18 | g.23545030A>C | CA401772397 | NPC1 | c.1877T>G (p.Ile626Ser) n.1791T>G c.955T>G c.1928T>G (p.Ile643Ser) c.1463T>G (p.Ile488Ser) | gnomAD v4 |
18 | g.23545030A>G | CA401772411 | NPC1 | c.1877T>C (p.Ile626Thr) n.1791T>C c.955T>C c.1928T>C (p.Ile643Thr) c.1463T>C (p.Ile488Thr) | gnomAD v4 |
18 | g.23545030A>T | CA401772402 | NPC1 | c.1877T>A (p.Ile626Asn) n.1791T>A c.955T>A c.1928T>A (p.Ile643Asn) c.1463T>A (p.Ile488Asn) | |
18 | g.23545031T>A | CA401772417 | NPC1 | c.1876A>T (p.Ile626Phe) n.1790A>T c.954A>T c.1927A>T (p.Ile643Phe) c.1462A>T (p.Ile488Phe) | |
18 | g.23545031T>C | CA401772421 | NPC1 | c.1876A>G (p.Ile626Val) n.1790A>G c.954A>G c.1927A>G (p.Ile643Val) c.1462A>G (p.Ile488Val) | gnomAD v4 |
18 | g.23545031T>G | CA401772425 | NPC1 | c.1876A>C (p.Ile626Leu) n.1790A>C c.954A>C c.1927A>C (p.Ile643Leu) c.1462A>C (p.Ile488Leu) | COSMIC |
18 | g.23545032T>A | CA503521947 | NPC1 | c.1875A>T (p.Val625=) n.1789A>T c.953A>T c.1926A>T (p.Val642=) c.1461A>T (p.Val487=) | |
18 | g.23545032T>C | CA8913351 | NPC1 | c.1875A>G (p.Val625=) n.1789A>G c.953A>G c.1926A>G (p.Val642=) c.1461A>G (p.Val487=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545032T>G | CA503521948 | NPC1 | c.1875A>C (p.Val625=) n.1789A>C c.953A>C c.1926A>C (p.Val642=) c.1461A>C (p.Val487=) | |
18 | g.23545032T= | CA2290168388 | NPC1 | c.1875A= (p.Val625=) n.1789A= c.953A= c.1926A= (p.Val642=) c.1461A= (p.Val487=) | |
18 | g.23545033A>C | CA401772433 | NPC1 | c.1874T>G (p.Val625Gly) n.1788T>G c.952T>G c.1925T>G (p.Val642Gly) c.1460T>G (p.Val487Gly) | |
18 | g.23545033A>G | CA401772444 | NPC1 | c.1874T>C (p.Val625Ala) n.1788T>C c.952T>C c.1925T>C (p.Val642Ala) c.1460T>C (p.Val487Ala) | |
18 | g.23545033A>T | CA401772441 | NPC1 | c.1874T>A (p.Val625Glu) n.1788T>A c.952T>A c.1925T>A (p.Val642Glu) c.1460T>A (p.Val487Glu) | |
18 | g.23545034C>A | CA401772449 | NPC1 | c.1873G>T (p.Val625Leu) n.1787G>T c.951G>T c.1924G>T (p.Val642Leu) c.1459G>T (p.Val487Leu) | gnomAD v4 |
18 | g.23545034C>G | CA401772452 | NPC1 | c.1873G>C (p.Val625Leu) n.1787G>C c.951G>C c.1924G>C (p.Val642Leu) c.1459G>C (p.Val487Leu) | |
18 | g.23545034C>T | CA401772454 | NPC1 | c.1873G>A (p.Val625Ile) n.1787G>A c.951G>A c.1924G>A (p.Val642Ile) c.1459G>A (p.Val487Ile) | |
18 | g.23545034_23545041delinsCAACGGTG | CA2290168389 | NPC1 | c.1866_1873delinsCACCGTTG (p.Phe622=) n.1780_1787delinsCACCGTTG c.944_951delinsCACCGTTG c.1917_1924delinsCACCGTTG (p.Phe639=) c.1452_1459delinsCACCGTTG (p.Phe484=) | |
18 | g.23545035A>C | CA503521953 | NPC1 | c.1872T>G (p.Val624=) n.1786T>G c.950T>G c.1923T>G (p.Val641=) c.1458T>G (p.Val486=) | |
18 | g.23545035A>G | CA503521954 | NPC1 | c.1872T>C (p.Val624=) n.1786T>C c.950T>C c.1923T>C (p.Val641=) c.1458T>C (p.Val486=) | ClinVar dbSNP |
18 | g.23545035A>T | CA503521955 | NPC1 | c.1872T>A (p.Val624=) n.1786T>A c.950T>A c.1923T>A (p.Val641=) c.1458T>A (p.Val486=) | |
18 | g.23545037_23545043del | CA8913352 | NPC1 | c.1866_1872del (p.Phe622LeufsTer2) n.1780_1786del c.944_950del c.1917_1923del (p.Phe639LeufsTer2) c.1452_1458del (p.Phe484LeufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545036A= | CA2290168390 | NPC1 | c.1871T= (p.Val624=) n.1785T= c.949T= c.1922T= (p.Val641=) c.1457T= (p.Val486=) | |
18 | g.23545036A>C | CA401772471 | NPC1 | c.1871T>G (p.Val624Gly) n.1785T>G c.949T>G c.1922T>G (p.Val641Gly) c.1457T>G (p.Val486Gly) | |
18 | g.23545036A>G | CA8913353 | NPC1 | c.1871T>C (p.Val624Ala) n.1785T>C c.949T>C c.1922T>C (p.Val641Ala) c.1457T>C (p.Val486Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545036A>T | CA401772474 | NPC1 | c.1871T>A (p.Val624Asp) n.1785T>A c.949T>A c.1922T>A (p.Val641Asp) c.1457T>A (p.Val486Asp) | |
18 | g.23545037C>A | CA401772486 | NPC1 | c.1870G>T (p.Val624Phe) n.1784G>T c.948G>T c.1921G>T (p.Val641Phe) c.1456G>T (p.Val486Phe) | |
18 | g.23545037C= | CA2290168391 | NPC1 | c.1870G= (p.Val624=) n.1784G= c.948G= c.1921G= (p.Val641=) c.1456G= (p.Val486=) | |
18 | g.23545037C>G | CA401772537 | NPC1 | c.1870G>C (p.Val624Leu) n.1784G>C c.948G>C c.1921G>C (p.Val641Leu) c.1456G>C (p.Val486Leu) | ClinVar |
18 | g.23545037C>T | CA8913354 | NPC1 | c.1870G>A (p.Val624Ile) n.1784G>A c.948G>A c.1921G>A (p.Val641Ile) c.1456G>A (p.Val486Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545038G>A | CA503521957 | NPC1 | c.1869C>T (p.Thr623=) n.1783C>T c.947C>T c.1920C>T (p.Thr640=) c.1455C>T (p.Thr485=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.23545038G>C | CA503521958 | NPC1 | c.1869C>G (p.Thr623=) n.1783C>G c.947C>G c.1920C>G (p.Thr640=) c.1455C>G (p.Thr485=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23545038G= | CA2290168392 | NPC1 | c.1869C= (p.Thr623=) n.1783C= c.947C= c.1920C= (p.Thr640=) c.1455C= (p.Thr485=) | |
18 | g.23545038G>T | CA503521959 | NPC1 | c.1869C>A (p.Thr623=) n.1783C>A c.947C>A c.1920C>A (p.Thr640=) c.1455C>A (p.Thr485=) | |
18 | g.23545039G>A | CA401772561 | NPC1 | c.1868C>T (p.Thr623Ile) n.1782C>T c.946C>T c.1919C>T (p.Thr640Ile) c.1454C>T (p.Thr485Ile) | |
18 | g.23545039G>C | CA401772560 | NPC1 | c.1868C>G (p.Thr623Ser) n.1782C>G c.946C>G c.1919C>G (p.Thr640Ser) c.1454C>G (p.Thr485Ser) | |
18 | g.23545039G= | CA2290168393 | NPC1 | c.1868C= (p.Thr623=) n.1782C= c.946C= c.1919C= (p.Thr640=) c.1454C= (p.Thr485=) | |
18 | g.23545039G>T | CA8913355 | NPC1 | c.1868C>A (p.Thr623Asn) n.1782C>A c.946C>A c.1919C>A (p.Thr640Asn) c.1454C>A (p.Thr485Asn) | dbSNP ExAC gnomAD v2 |
18 | g.23545040T>A | CA401772565 | NPC1 | c.1867A>T (p.Thr623Ser) n.1781A>T c.945A>T c.1918A>T (p.Thr640Ser) c.1453A>T (p.Thr485Ser) | |
18 | g.23545040T>C | CA401772571 | NPC1 | c.1867A>G (p.Thr623Ala) n.1781A>G c.945A>G c.1918A>G (p.Thr640Ala) c.1453A>G (p.Thr485Ala) | |
18 | g.23545040T>G | CA401772568 | NPC1 | c.1867A>C (p.Thr623Pro) n.1781A>C c.945A>C c.1918A>C (p.Thr640Pro) c.1453A>C (p.Thr485Pro) | |
18 | g.23545041G>A | CA503521962 | NPC1 | c.1866C>T (p.Phe622=) n.1780C>T c.944C>T c.1917C>T (p.Phe639=) c.1452C>T (p.Phe484=) | ClinVar |
18 | g.23545041G>C | CA401772574 | NPC1 | c.1866C>G (p.Phe622Leu) n.1780C>G c.944C>G c.1917C>G (p.Phe639Leu) c.1452C>G (p.Phe484Leu) | |
18 | g.23545041G>T | CA401772577 | NPC1 | c.1866C>A (p.Phe622Leu) n.1780C>A c.944C>A c.1917C>A (p.Phe639Leu) c.1452C>A (p.Phe484Leu) | |
18 | g.23545042A>C | CA401772580 | NPC1 | c.1865T>G (p.Phe622Cys) n.1779T>G c.943T>G c.1916T>G (p.Phe639Cys) c.1451T>G (p.Phe484Cys) | |
18 | g.23545042A>G | CA401772582 | NPC1 | c.1865T>C (p.Phe622Ser) n.1779T>C c.943T>C c.1916T>C (p.Phe639Ser) c.1451T>C (p.Phe484Ser) | |
18 | g.23545042A>T | CA401772585 | NPC1 | c.1865T>A (p.Phe622Tyr) n.1779T>A c.943T>A c.1916T>A (p.Phe639Tyr) c.1451T>A (p.Phe484Tyr) | |
18 | g.23545043A= | CA2290168394 | NPC1 | c.1864T= (p.Phe622=) n.1778T= c.942T= c.1915T= (p.Phe639=) c.1450T= (p.Phe484=) | |
18 | g.23545043A>C | CA401772588 | NPC1 | c.1864T>G (p.Phe622Val) n.1778T>G c.942T>G c.1915T>G (p.Phe639Val) c.1450T>G (p.Phe484Val) | dbSNP gnomAD v4 |
18 | g.23545043A>G | CA401772593 | NPC1 | c.1864T>C (p.Phe622Leu) n.1778T>C c.942T>C c.1915T>C (p.Phe639Leu) c.1450T>C (p.Phe484Leu) | |
18 | g.23545043A>T | CA401772596 | NPC1 | c.1864T>A (p.Phe622Ile) n.1778T>A c.942T>A c.1915T>A (p.Phe639Ile) c.1450T>A (p.Phe484Ile) | |
18 | g.23545044G>A | CA503521967 | NPC1 | c.1863C>T (p.Val621=) n.1777C>T c.941C>T c.1914C>T (p.Val638=) c.1449C>T (p.Val483=) | ClinVar |
18 | g.23545044G>C | CA8913356 | NPC1 | c.1863C>G (p.Val621=) n.1777C>G c.941C>G c.1914C>G (p.Val638=) c.1449C>G (p.Val483=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545044G= | CA2290168395 | NPC1 | c.1863C= (p.Val621=) n.1777C= c.941C= c.1914C= (p.Val638=) c.1449C= (p.Val483=) | |
18 | g.23545044G>T | CA503521968 | NPC1 | c.1863C>A (p.Val621=) n.1777C>A c.941C>A c.1914C>A (p.Val638=) c.1449C>A (p.Val483=) | gnomAD v4 COSMIC |
18 | g.23545045A>C | CA401772607 | NPC1 | c.1862T>G (p.Val621Gly) n.1776T>G c.940T>G c.1913T>G (p.Val638Gly) c.1448T>G (p.Val483Gly) | |
18 | g.23545045A>G | CA401772610 | NPC1 | c.1862T>C (p.Val621Ala) n.1776T>C c.940T>C c.1913T>C (p.Val638Ala) c.1448T>C (p.Val483Ala) | |
18 | g.23545045A>T | CA401772612 | NPC1 | c.1862T>A (p.Val621Asp) n.1776T>A c.940T>A c.1913T>A (p.Val638Asp) c.1448T>A (p.Val483Asp) | |
18 | g.23545046C>A | CA401772633 | NPC1 | c.1861G>T (p.Val621Phe) n.1775G>T c.939G>T c.1912G>T (p.Val638Phe) c.1447G>T (p.Val483Phe) | |
18 | g.23545046C>G | CA401772620 | NPC1 | c.1861G>C (p.Val621Leu) n.1775G>C c.939G>C c.1912G>C (p.Val638Leu) c.1447G>C (p.Val483Leu) | |
18 | g.23545046C>T | CA401772618 | NPC1 | c.1861G>A (p.Val621Ile) n.1775G>A c.939G>A c.1912G>A (p.Val638Ile) c.1447G>A (p.Val483Ile) | |
18 | g.23545047A>C | CA401772639 | NPC1 | c.1860T>G (p.Asp620Glu) n.1774T>G c.938T>G c.1911T>G (p.Asp637Glu) c.1446T>G (p.Asp482Glu) | |
18 | g.23545047A>G | CA503522022 | NPC1 | c.1860T>C (p.Asp620=) n.1774T>C c.938T>C c.1911T>C (p.Asp637=) c.1446T>C (p.Asp482=) | gnomAD v4 |
18 | g.23545047A>T | CA401772641 | NPC1 | c.1860T>A (p.Asp620Glu) n.1774T>A c.938T>A c.1911T>A (p.Asp637Glu) c.1446T>A (p.Asp482Glu) | |
18 | g.23545048T>A | CA401772645 | NPC1 | c.1859A>T (p.Asp620Val) n.1773A>T c.937A>T c.1910A>T (p.Asp637Val) c.1445A>T (p.Asp482Val) | |
18 | g.23545048T>C | CA401772649 | NPC1 | c.1859A>G (p.Asp620Gly) n.1773A>G c.937A>G c.1910A>G (p.Asp637Gly) c.1445A>G (p.Asp482Gly) | dbSNP |
18 | g.23545048T>G | CA401772650 | NPC1 | c.1859A>C (p.Asp620Ala) n.1773A>C c.937A>C c.1910A>C (p.Asp637Ala) c.1445A>C (p.Asp482Ala) | |
18 | g.23545048T= | CA2290168396 | NPC1 | c.1859A= (p.Asp620=) n.1773A= c.937A= c.1910A= (p.Asp637=) c.1445A= (p.Asp482=) | |
18 | g.23545049C>A | CA401772651 | NPC1 | c.1858G>T (p.Asp620Tyr) n.1772G>T c.936G>T c.1909G>T (p.Asp637Tyr) c.1444G>T (p.Asp482Tyr) | |
18 | g.23545049C>G | CA401772652 | NPC1 | c.1858G>C (p.Asp620His) n.1772G>C c.936G>C c.1909G>C (p.Asp637His) c.1444G>C (p.Asp482His) | |
18 | g.23545049C>T | CA401772653 | NPC1 | c.1858G>A (p.Asp620Asn) n.1772G>A c.936G>A c.1909G>A (p.Asp637Asn) c.1444G>A (p.Asp482Asn) | |
18 | g.23545050A>C | CA401772654 | NPC1 | c.1857T>G (p.Ser619Arg) n.1771T>G c.935T>G c.1908T>G (p.Ser636Arg) c.1443T>G (p.Ser481Arg) | |
18 | g.23545050A>G | CA503522023 | NPC1 | c.1857T>C (p.Ser619=) n.1771T>C c.935T>C c.1908T>C (p.Ser636=) c.1443T>C (p.Ser481=) | |
18 | g.23545050A>T | CA401772655 | NPC1 | c.1857T>A (p.Ser619Arg) n.1771T>A c.935T>A c.1908T>A (p.Ser636Arg) c.1443T>A (p.Ser481Arg) | |
18 | g.23545051C>A | CA401772659 | NPC1 | c.1856G>T (p.Ser619Ile) n.1770G>T c.934G>T c.1907G>T (p.Ser636Ile) c.1442G>T (p.Ser481Ile) | gnomAD v4 |
18 | g.23545051C= | CA2290168397 | NPC1 | c.1856G= (p.Ser619=) n.1770G= c.934G= c.1907G= (p.Ser636=) c.1442G= (p.Ser481=) | |
18 | g.23545051C>G | CA401772663 | NPC1 | c.1856G>C (p.Ser619Thr) n.1770G>C c.934G>C c.1907G>C (p.Ser636Thr) c.1442G>C (p.Ser481Thr) | COSMIC COSMIC |
18 | g.23545051C>T | CA297060766 | NPC1 | c.1856G>A (p.Ser619Asn) n.1770G>A c.934G>A c.1907G>A (p.Ser636Asn) c.1442G>A (p.Ser481Asn) | ClinVar dbSNP gnomAD v4 |
18 | g.23545052T>A | CA401772678 | NPC1 | c.1855A>T (p.Ser619Cys) n.1769A>T c.933A>T c.1906A>T (p.Ser636Cys) c.1441A>T (p.Ser481Cys) | |
18 | g.23545052T>C | CA401772680 | NPC1 | c.1855A>G (p.Ser619Gly) n.1769A>G c.933A>G c.1906A>G (p.Ser636Gly) c.1441A>G (p.Ser481Gly) | |
18 | g.23545052T>G | CA401772676 | NPC1 | c.1855A>C (p.Ser619Arg) n.1769A>C c.933A>C c.1906A>C (p.Ser636Arg) c.1441A>C (p.Ser481Arg) | |
18 | g.23545053G>A | CA503522024 | NPC1 | c.1854C>T (p.Asp618=) n.1768C>T c.932C>T c.1905C>T (p.Asp635=) c.1440C>T (p.Asp480=) | gnomAD v4 |
18 | g.23545053G>C | CA401772681 | NPC1 | c.1854C>G (p.Asp618Glu) n.1768C>G c.932C>G c.1905C>G (p.Asp635Glu) c.1440C>G (p.Asp480Glu) | |
18 | g.23545053G= | CA2290168398 | NPC1 | c.1854C= (p.Asp618=) n.1768C= c.932C= c.1905C= (p.Asp635=) c.1440C= (p.Asp480=) | |
18 | g.23545053G>T | CA401772685 | NPC1 | c.1854C>A (p.Asp618Glu) n.1768C>A c.932C>A c.1905C>A (p.Asp635Glu) c.1440C>A (p.Asp480Glu) | |
18 | g.23545054T>A | CA401772697 | NPC1 | c.1853A>T (p.Asp618Val) n.1767A>T c.931A>T c.1904A>T (p.Asp635Val) c.1439A>T (p.Asp480Val) | |
18 | g.23545054T>C | CA401772699 | NPC1 | c.1853A>G (p.Asp618Gly) n.1767A>G c.931A>G c.1904A>G (p.Asp635Gly) c.1439A>G (p.Asp480Gly) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23545054T>G | CA401772706 | NPC1 | c.1853A>C (p.Asp618Ala) n.1767A>C c.931A>C c.1904A>C (p.Asp635Ala) c.1439A>C (p.Asp480Ala) | |
18 | g.23545054T= | CA2290168399 | NPC1 | c.1853A= (p.Asp618=) n.1767A= c.931A= c.1904A= (p.Asp635=) c.1439A= (p.Asp480=) | |
18 | g.23545056_23545057insGGGACTGGACCAGTGAACATCA | CA8913357 | NPC1 | c.1853_1854insTGTTCACTGGTCCAGTCCCTGA (p.Ser619ValfsTer7) n.1767_1768insTGTTCACTGGTCCAGTCCCTGA c.931_932insTGTTCACTGGTCCAGTCCCTGA c.1904_1905insTGTTCACTGGTCCAGTCCCTGA (p.Ser636ValfsTer7) c.1439_1440insTGTTCACTGGTCCAGTCCCTGA (p.Ser481ValfsTer7) | dbSNP ExAC |
18 | g.23545055C>A | CA401772710 | NPC1 | c.1852G>T (p.Asp618Tyr) n.1766G>T c.930G>T c.1903G>T (p.Asp635Tyr) c.1438G>T (p.Asp480Tyr) | |
18 | g.23545055C= | CA2290168400 | NPC1 | c.1852G= (p.Asp618=) n.1766G= c.930G= c.1903G= (p.Asp635=) c.1438G= (p.Asp480=) | |
18 | g.23545055C>G | CA8913358 | NPC1 | c.1852G>C (p.Asp618His) n.1766G>C c.930G>C c.1903G>C (p.Asp635His) c.1438G>C (p.Asp480His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545055C>T | CA401772738 | NPC1 | c.1852G>A (p.Asp618Asn) n.1766G>A c.930G>A c.1903G>A (p.Asp635Asn) c.1438G>A (p.Asp480Asn) | dbSNP |
18 | g.23545056A>C | CA401772751 | NPC1 | c.1851T>G (p.Ser617Arg) n.1765T>G c.929T>G c.1902T>G (p.Ser634Arg) c.1437T>G (p.Ser479Arg) | |
18 | g.23545056A>G | CA503522025 | NPC1 | c.1851T>C (p.Ser617=) n.1765T>C c.929T>C c.1902T>C (p.Ser634=) c.1437T>C (p.Ser479=) | |
18 | g.23545056A>T | CA401772772 | NPC1 | c.1851T>A (p.Ser617Arg) n.1765T>A c.929T>A c.1902T>A (p.Ser634Arg) c.1437T>A (p.Ser479Arg) | |
18 | g.23545057C>A | CA401772783 | NPC1 | c.1850G>T (p.Ser617Ile) n.1764G>T c.928G>T c.1901G>T (p.Ser634Ile) c.1436G>T (p.Ser479Ile) | |
18 | g.23545057C= | CA2290168401 | NPC1 | c.1850G= (p.Ser617=) n.1764G= c.928G= c.1901G= (p.Ser634=) c.1436G= (p.Ser479=) | |
18 | g.23545057C>G | CA401772781 | NPC1 | c.1850G>C (p.Ser617Thr) n.1764G>C c.928G>C c.1901G>C (p.Ser634Thr) c.1436G>C (p.Ser479Thr) | |
18 | g.23545057C>T | CA401772779 | NPC1 | c.1850G>A (p.Ser617Asn) n.1764G>A c.928G>A c.1901G>A (p.Ser634Asn) c.1436G>A (p.Ser479Asn) | |
18 | g.23545058T>A | CA401772785 | NPC1 | c.1849A>T (p.Ser617Cys) n.1763A>T c.927A>T c.1900A>T (p.Ser634Cys) c.1435A>T (p.Ser479Cys) | |
18 | g.23545058T>C | CA401772789 | NPC1 | c.1849A>G (p.Ser617Gly) n.1763A>G c.927A>G c.1900A>G (p.Ser634Gly) c.1435A>G (p.Ser479Gly) | dbSNP |
18 | g.23545058T>G | CA401772793 | NPC1 | c.1849A>C (p.Ser617Arg) n.1763A>C c.927A>C c.1900A>C (p.Ser634Arg) c.1435A>C (p.Ser479Arg) | |
18 | g.23545058T= | CA2290168402 | NPC1 | c.1849A= (p.Ser617=) n.1763A= c.927A= c.1900A= (p.Ser634=) c.1435A= (p.Ser479=) | |
18 | g.23545060dup | CA916083639 | NPC1 | c.1849dup (p.Ser617LysfsTer2) n.1763dup c.927dup c.1900dup (p.Ser634LysfsTer2) c.1435dup (p.Ser479LysfsTer2) | ClinVar dbSNP |
18 | g.23545059T>A | CA401772794 | NPC1 | c.1848A>T (p.Glu616Asp) n.1762A>T c.926A>T c.1899A>T (p.Glu633Asp) c.1434A>T (p.Glu478Asp) | |
18 | g.23545059T>C | CA8913359 | NPC1 | c.1848A>G (p.Glu616=) n.1762A>G c.926A>G c.1899A>G (p.Glu633=) c.1434A>G (p.Glu478=) | dbSNP ExAC |
18 | g.23545059T>G | CA401772797 | NPC1 | c.1848A>C (p.Glu616Asp) n.1762A>C c.926A>C c.1899A>C (p.Glu633Asp) c.1434A>C (p.Glu478Asp) | |
18 | g.23545059T= | CA2290168403 | NPC1 | c.1848A= (p.Glu616=) n.1762A= c.926A= c.1899A= (p.Glu633=) c.1434A= (p.Glu478=) | |
18 | g.23545060T>A | CA401772801 | NPC1 | c.1847A>T (p.Glu616Val) n.1761A>T c.925A>T c.1898A>T (p.Glu633Val) c.1433A>T (p.Glu478Val) | |
18 | g.23545060T>C | CA401772803 | NPC1 | c.1847A>G (p.Glu616Gly) n.1761A>G c.925A>G c.1898A>G (p.Glu633Gly) c.1433A>G (p.Glu478Gly) | gnomAD v4 |
18 | g.23545060T>G | CA401772805 | NPC1 | c.1847A>C (p.Glu616Ala) n.1761A>C c.925A>C c.1898A>C (p.Glu633Ala) c.1433A>C (p.Glu478Ala) | |
18 | g.23545061C>A | CA401772810 | NPC1 | c.1846G>T (p.Glu616Ter) n.1760G>T c.924G>T c.1897G>T (p.Glu633Ter) c.1432G>T (p.Glu478Ter) | |
18 | g.23545061C>G | CA401772815 | NPC1 | c.1846G>C (p.Glu616Gln) n.1760G>C c.924G>C c.1897G>C (p.Glu633Gln) c.1432G>C (p.Glu478Gln) | |
18 | g.23545061C>T | CA401772834 | NPC1 | c.1846G>A (p.Glu616Lys) n.1760G>A c.924G>A c.1897G>A (p.Glu633Lys) c.1432G>A (p.Glu478Lys) | |
18 | g.23545062A>C | CA503522026 | NPC1 | c.1845T>G (p.Arg615=) n.1759T>G c.923T>G c.1896T>G (p.Arg632=) c.1431T>G (p.Arg477=) | dbSNP |
18 | g.23545062A>G | CA503522027 | NPC1 | c.1845T>C (p.Arg615=) n.1759T>C c.923T>C c.1896T>C (p.Arg632=) c.1431T>C (p.Arg477=) | |
18 | g.23545062A>T | CA503522028 | NPC1 | c.1845T>A (p.Arg615=) n.1759T>A c.923T>A c.1896T>A (p.Arg632=) c.1431T>A (p.Arg477=) | |
18 | g.23545062_23545063delinsAC | CA2290168404 | NPC1 | c.1844_1845delinsGT (p.Arg615=) n.1758_1759delinsGT c.922_923delinsGT c.1895_1896delinsGT (p.Arg632=) c.1430_1431delinsGT (p.Arg477=) | |
18 | g.23545063del | CA777725569 | NPC1 | c.1844del (p.Arg615LeufsTer11) n.1758del c.922del c.1895del (p.Arg632LeufsTer11) c.1430del (p.Arg477LeufsTer11) | ClinVar dbSNP gnomAD v4 |
18 | g.23545063C>A | CA8913360 | NPC1 | c.1844G>T (p.Arg615Leu) n.1758G>T c.922G>T c.1895G>T (p.Arg632Leu) c.1430G>T (p.Arg477Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545063C= | CA2290168405 | NPC1 | c.1844G= (p.Arg615=) n.1758G= c.922G= c.1895G= (p.Arg632=) c.1430G= (p.Arg477=) | |
18 | g.23545063C>G | CA401772846 | NPC1 | c.1844G>C (p.Arg615Pro) n.1758G>C c.922G>C c.1895G>C (p.Arg632Pro) c.1430G>C (p.Arg477Pro) | |
18 | g.23545063C>T | CA401772841 | NPC1 | c.1844G>A (p.Arg615His) n.1758G>A c.922G>A c.1895G>A (p.Arg632His) c.1430G>A (p.Arg477His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23545064G>A | CA8913361 | NPC1 | c.1843C>T (p.Arg615Cys) n.1757C>T c.921C>T c.1894C>T (p.Arg632Cys) c.1429C>T (p.Arg477Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23545064G>C | CA401772853 | NPC1 | c.1843C>G (p.Arg615Gly) n.1757C>G c.921C>G c.1894C>G (p.Arg632Gly) c.1429C>G (p.Arg477Gly) | |
18 | g.23545064G= | CA2290168406 | NPC1 | c.1843C= (p.Arg615=) n.1757C= c.921C= c.1894C= (p.Arg632=) c.1429C= (p.Arg477=) | |
18 | g.23545064G>T | CA401772863 | NPC1 | c.1843C>A (p.Arg615Ser) n.1757C>A c.921C>A c.1894C>A (p.Arg632Ser) c.1429C>A (p.Arg477Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23545065A= | CA2290168407 | NPC1 | c.1842T= (p.Asn614=) n.1756T= c.920T= c.1893T= (p.Asn631=) c.1428T= (p.Asn476=) | |
18 | g.23545065A>C | CA401772877 | NPC1 | c.1842T>G (p.Asn614Lys) n.1756T>G c.920T>G c.1893T>G (p.Asn631Lys) c.1428T>G (p.Asn476Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23545065A>G | CA503522029 | NPC1 | c.1842T>C (p.Asn614=) n.1756T>C c.920T>C c.1893T>C (p.Asn631=) c.1428T>C (p.Asn476=) | ClinVar dbSNP gnomAD v4 |
18 | g.23545065A>T | CA401772891 | NPC1 | c.1842T>A (p.Asn614Lys) n.1756T>A c.920T>A c.1893T>A (p.Asn631Lys) c.1428T>A (p.Asn476Lys) | |
18 | g.23545066T>A | CA401772907 | NPC1 | c.1841A>T (p.Asn614Ile) n.1755A>T c.919A>T c.1892A>T (p.Asn631Ile) c.1427A>T (p.Asn476Ile) | |
18 | g.23545066T>C | CA401772902 | NPC1 | c.1841A>G (p.Asn614Ser) n.1755A>G c.919A>G c.1892A>G (p.Asn631Ser) c.1427A>G (p.Asn476Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23545066T>G | CA401772897 | NPC1 | c.1841A>C (p.Asn614Thr) n.1755A>C c.919A>C c.1892A>C (p.Asn631Thr) c.1427A>C (p.Asn476Thr) | |
18 | g.23545066T= | CA2290168408 | NPC1 | c.1841A= (p.Asn614=) n.1755A= c.919A= c.1892A= (p.Asn631=) c.1427A= (p.Asn476=) | |
18 | g.23545067T>A | CA401772911 | NPC1 | c.1840A>T (p.Asn614Tyr) n.1754A>T c.918A>T c.1891A>T (p.Asn631Tyr) c.1426A>T (p.Asn476Tyr) | |
18 | g.23545067T>C | CA401772912 | NPC1 | c.1840A>G (p.Asn614Asp) n.1754A>G c.918A>G c.1891A>G (p.Asn631Asp) c.1426A>G (p.Asn476Asp) | dbSNP |
18 | g.23545067T>G | CA401772913 | NPC1 | c.1840A>C (p.Asn614His) n.1754A>C c.918A>C c.1891A>C (p.Asn631His) c.1426A>C (p.Asn476His) | dbSNP |
18 | g.23545067T= | CA2290168409 | NPC1 | c.1840A= (p.Asn614=) n.1754A= c.918A= c.1891A= (p.Asn631=) c.1426A= (p.Asn476=) | |
18 | g.23545068T>A | CA503522030 | NPC1 | c.1839A>T (p.Leu613=) n.1753A>T c.917A>T c.1890A>T (p.Leu630=) c.1425A>T (p.Leu475=) | |
18 | g.23545068T>C | CA503522031 | NPC1 | c.1839A>G (p.Leu613=) n.1753A>G c.917A>G c.1890A>G (p.Leu630=) c.1425A>G (p.Leu475=) | ClinVar gnomAD v4 |
18 | g.23545068T>G | CA503522032 | NPC1 | c.1839A>C (p.Leu613=) n.1753A>C c.917A>C c.1890A>C (p.Leu630=) c.1425A>C (p.Leu475=) | |
18 | g.23545069A>C | CA401772918 | NPC1 | c.1838T>G (p.Leu613Arg) n.1752T>G c.916T>G c.1889T>G (p.Leu630Arg) c.1424T>G (p.Leu475Arg) | |
18 | g.23545069A>G | CA401772920 | NPC1 | c.1838T>C (p.Leu613Pro) n.1752T>C c.916T>C c.1889T>C (p.Leu630Pro) c.1424T>C (p.Leu475Pro) | |
18 | g.23545069A>T | CA401772924 | NPC1 | c.1838T>A (p.Leu613Gln) n.1752T>A c.916T>A c.1889T>A (p.Leu630Gln) c.1424T>A (p.Leu475Gln) | |
18 | g.23545070G>A | CA8913362 | NPC1 | c.1837C>T (p.Leu613=) n.1751C>T c.915C>T c.1888C>T (p.Leu630=) c.1423C>T (p.Leu475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545070G>C | CA401772928 | NPC1 | c.1837C>G (p.Leu613Val) n.1751C>G c.915C>G c.1888C>G (p.Leu630Val) c.1423C>G (p.Leu475Val) | dbSNP gnomAD v4 |
18 | g.23545070G= | CA2290168410 | NPC1 | c.1837C= (p.Leu613=) n.1751C= c.915C= c.1888C= (p.Leu630=) c.1423C= (p.Leu475=) | |
18 | g.23545070G>T | CA401772931 | NPC1 | c.1837C>A (p.Leu613Ile) n.1751C>A c.915C>A c.1888C>A (p.Leu630Ile) c.1423C>A (p.Leu475Ile) | gnomAD v4 |
18 | g.23545071T>A | CA401772946 | NPC1 | c.1836A>T (p.Glu612Asp) n.1750A>T c.914A>T c.1887A>T (p.Glu629Asp) c.1422A>T (p.Glu474Asp) | |
18 | g.23545071T>C | CA503522033 | NPC1 | c.1836A>G (p.Glu612=) n.1750A>G c.914A>G c.1887A>G (p.Glu629=) c.1422A>G (p.Glu474=) | |
18 | g.23545071T>G | CA401772950 | NPC1 | c.1836A>C (p.Glu612Asp) n.1750A>C c.914A>C c.1887A>C (p.Glu629Asp) c.1422A>C (p.Glu474Asp) | ClinVar dbSNP gnomAD v4 |
18 | g.23545071T= | CA2290168411 | NPC1 | c.1836A= (p.Glu612=) n.1750A= c.914A= c.1887A= (p.Glu629=) c.1422A= (p.Glu474=) | |
18 | g.23545075_23545080del | CA2695227330 | NPC1 | c.1831_1836del (p.Asp611_Glu612del) n.1745_1750del c.909_914del c.1882_1887del (p.Asp628_Glu629del) c.1417_1422del (p.Asp473_Glu474del) | |
18 | g.23545072T>A | CA401772953 | NPC1 | c.1835A>T (p.Glu612Val) n.1749A>T c.913A>T c.1886A>T (p.Glu629Val) c.1421A>T (p.Glu474Val) | |
18 | g.23545072T>C | CA401772956 | NPC1 | c.1835A>G (p.Glu612Gly) n.1749A>G c.913A>G c.1886A>G (p.Glu629Gly) c.1421A>G (p.Glu474Gly) | dbSNP COSMIC |
18 | g.23545072T>G | CA401772959 | NPC1 | c.1835A>C (p.Glu612Ala) n.1749A>C c.913A>C c.1886A>C (p.Glu629Ala) c.1421A>C (p.Glu474Ala) | gnomAD v4 |
18 | g.23545072T= | CA2290168412 | NPC1 | c.1835A= (p.Glu612=) n.1749A= c.913A= c.1886A= (p.Glu629=) c.1421A= (p.Glu474=) | |
18 | g.23545073C>A | CA401772962 | NPC1 | c.1834G>T (p.Glu612Ter) n.1748G>T c.912G>T c.1885G>T (p.Glu629Ter) c.1420G>T (p.Glu474Ter) | |
18 | g.23545073C>G | CA401772967 | NPC1 | c.1834G>C (p.Glu612Gln) n.1748G>C c.912G>C c.1885G>C (p.Glu629Gln) c.1420G>C (p.Glu474Gln) | |
18 | g.23545073C>T | CA401772971 | NPC1 | c.1834G>A (p.Glu612Lys) n.1748G>A c.912G>A c.1885G>A (p.Glu629Lys) c.1420G>A (p.Glu474Lys) | gnomAD v4 |
18 | g.23545074A>C | CA401772973 | NPC1 | c.1833T>G (p.Asp611Glu) n.1747T>G c.911T>G c.1884T>G (p.Asp628Glu) c.1419T>G (p.Asp473Glu) | |
18 | g.23545074A>G | CA503522034 | NPC1 | c.1833T>C (p.Asp611=) n.1747T>C c.911T>C c.1884T>C (p.Asp628=) c.1419T>C (p.Asp473=) | |
18 | g.23545074A>T | CA401772976 | NPC1 | c.1833T>A (p.Asp611Glu) n.1747T>A c.911T>A c.1884T>A (p.Asp628Glu) c.1419T>A (p.Asp473Glu) | |
18 | g.23545075T>A | CA401772981 | NPC1 | c.1832A>T (p.Asp611Val) n.1746A>T c.910A>T c.1883A>T (p.Asp628Val) c.1418A>T (p.Asp473Val) | |
18 | g.23545075T>C | CA269821 | NPC1 | c.1832A>G (p.Asp611Gly) n.1746A>G c.910A>G c.1883A>G (p.Asp628Gly) c.1418A>G (p.Asp473Gly) | ClinVar dbSNP |
18 | g.23545075T>G | CA401772987 | NPC1 | c.1832A>C (p.Asp611Ala) n.1746A>C c.910A>C c.1883A>C (p.Asp628Ala) c.1418A>C (p.Asp473Ala) | |
18 | g.23545075T= | CA2290168413 | NPC1 | c.1832A= (p.Asp611=) n.1746A= c.910A= c.1883A= (p.Asp628=) c.1418A= (p.Asp473=) | |
18 | g.23545076C>A | CA401772990 | NPC1 | c.1831G>T (p.Asp611Tyr) n.1745G>T c.909G>T c.1882G>T (p.Asp628Tyr) c.1417G>T (p.Asp473Tyr) | |
18 | g.23545076C>G | CA401772998 | NPC1 | c.1831G>C (p.Asp611His) n.1745G>C c.909G>C c.1882G>C (p.Asp628His) c.1417G>C (p.Asp473His) | |
18 | g.23545076C>T | CA401772995 | NPC1 | c.1831G>A (p.Asp611Asn) n.1745G>A c.909G>A c.1882G>A (p.Asp628Asn) c.1417G>A (p.Asp473Asn) | COSMIC |
18 | g.23545077T>A | CA401773001 | NPC1 | c.1830A>T (p.Glu610Asp) n.1744A>T c.908A>T c.1881A>T (p.Glu627Asp) c.1416A>T (p.Glu472Asp) | |
18 | g.23545077T>C | CA503522035 | NPC1 | c.1830A>G (p.Glu610=) n.1744A>G c.908A>G c.1881A>G (p.Glu627=) c.1416A>G (p.Glu472=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23545077T>G | CA401773003 | NPC1 | c.1830A>C (p.Glu610Asp) n.1744A>C c.908A>C c.1881A>C (p.Glu627Asp) c.1416A>C (p.Glu472Asp) | |
18 | g.23545077T= | CA2290168414 | NPC1 | c.1830A= (p.Glu610=) n.1744A= c.908A= c.1881A= (p.Glu627=) c.1416A= (p.Glu472=) | |
18 | g.23545078T>A | CA401773006 | NPC1 | c.1829A>T (p.Glu610Val) n.1743A>T c.907A>T c.1880A>T (p.Glu627Val) c.1415A>T (p.Glu472Val) | |
18 | g.23545078T>C | CA401773011 | NPC1 | c.1829A>G (p.Glu610Gly) n.1743A>G c.907A>G c.1880A>G (p.Glu627Gly) c.1415A>G (p.Glu472Gly) | |
18 | g.23545078T>G | CA401773014 | NPC1 | c.1829A>C (p.Glu610Ala) n.1743A>C c.907A>C c.1880A>C (p.Glu627Ala) c.1415A>C (p.Glu472Ala) | gnomAD v4 |
18 | g.23545079C>A | CA401773017 | NPC1 | c.1828G>T (p.Glu610Ter) n.1742G>T c.906G>T c.1879G>T (p.Glu627Ter) c.1414G>T (p.Glu472Ter) | |
18 | g.23545079C= | CA2290168415 | NPC1 | c.1828G= (p.Glu610=) n.1742G= c.906G= c.1879G= (p.Glu627=) c.1414G= (p.Glu472=) | |
18 | g.23545079C>G | CA401773019 | NPC1 | c.1828G>C (p.Glu610Gln) n.1742G>C c.906G>C c.1879G>C (p.Glu627Gln) c.1414G>C (p.Glu472Gln) | |
18 | g.23545079C>T | CA401773021 | NPC1 | c.1828G>A (p.Glu610Lys) n.1742G>A c.906G>A c.1879G>A (p.Glu627Lys) c.1414G>A (p.Glu472Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23545080A>C | CA401773025 | NPC1 | c.1827T>G (p.Ile609Met) n.1741T>G c.905T>G c.1878T>G (p.Ile626Met) c.1413T>G (p.Ile471Met) | |
18 | g.23545080A>G | CA503522036 | NPC1 | c.1827T>C (p.Ile609=) n.1741T>C c.905T>C c.1878T>C (p.Ile626=) c.1413T>C (p.Ile471=) | |
18 | g.23545080A>T | CA503522037 | NPC1 | c.1827T>A (p.Ile609=) n.1741T>A c.905T>A c.1878T>A (p.Ile626=) c.1413T>A (p.Ile471=) | |
18 | g.23545081A>C | CA401773027 | NPC1 | c.1826T>G (p.Ile609Ser) n.1740T>G c.904T>G c.1877T>G (p.Ile626Ser) c.1412T>G (p.Ile471Ser) | |
18 | g.23545081A>G | CA401773028 | NPC1 | c.1826T>C (p.Ile609Thr) n.1740T>C c.904T>C c.1877T>C (p.Ile626Thr) c.1412T>C (p.Ile471Thr) | gnomAD v4 |
18 | g.23545081A>T | CA401773031 | NPC1 | c.1826T>A (p.Ile609Asn) n.1740T>A c.904T>A c.1877T>A (p.Ile626Asn) c.1412T>A (p.Ile471Asn) | |
18 | g.23545082T>A | CA401773037 | NPC1 | c.1825A>T (p.Ile609Phe) n.1739A>T c.903A>T c.1876A>T (p.Ile626Phe) c.1411A>T (p.Ile471Phe) | gnomAD v4 |
18 | g.23545082T>C | CA401773038 | NPC1 | c.1825A>G (p.Ile609Val) n.1739A>G c.903A>G c.1876A>G (p.Ile626Val) c.1411A>G (p.Ile471Val) | |
18 | g.23545082T>G | CA401773034 | NPC1 | c.1825A>C (p.Ile609Leu) n.1739A>C c.903A>C c.1876A>C (p.Ile626Leu) c.1411A>C (p.Ile471Leu) | |
18 | g.23545083A>C | CA401773040 | NPC1 | c.1824T>G (p.Ser608Arg) n.1738T>G c.902T>G c.1875T>G (p.Ser625Arg) c.1410T>G (p.Ser470Arg) | |
18 | g.23545083A>G | CA503522038 | NPC1 | c.1824T>C (p.Ser608=) n.1738T>C c.902T>C c.1875T>C (p.Ser625=) c.1410T>C (p.Ser470=) | |
18 | g.23545083A>T | CA401773042 | NPC1 | c.1824T>A (p.Ser608Arg) n.1738T>A c.902T>A c.1875T>A (p.Ser625Arg) c.1410T>A (p.Ser470Arg) | |
18 | g.23545084C>A | CA401773043 | NPC1 | c.1823G>T (p.Ser608Ile) n.1737G>T c.901G>T c.1874G>T (p.Ser625Ile) c.1409G>T (p.Ser470Ile) | |
18 | g.23545084C= | CA2290168416 | NPC1 | c.1823G= (p.Ser608=) n.1737G= c.901G= c.1874G= (p.Ser625=) c.1409G= (p.Ser470=) | |
18 | g.23545084C>G | CA401773045 | NPC1 | c.1823G>C (p.Ser608Thr) n.1737G>C c.901G>C c.1874G>C (p.Ser625Thr) c.1409G>C (p.Ser470Thr) | |
18 | g.23545084C>T | CA8913363 | NPC1 | c.1823G>A (p.Ser608Asn) n.1737G>A c.901G>A c.1874G>A (p.Ser625Asn) c.1409G>A (p.Ser470Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545085T>A | CA401773057 | NPC1 | c.1822A>T (p.Ser608Cys) n.1736A>T c.900A>T c.1873A>T (p.Ser625Cys) c.1408A>T (p.Ser470Cys) | |
18 | g.23545085T>C | CA401773051 | NPC1 | c.1822A>G (p.Ser608Gly) n.1736A>G c.900A>G c.1873A>G (p.Ser625Gly) c.1408A>G (p.Ser470Gly) | |
18 | g.23545085T>G | CA401773055 | NPC1 | c.1822A>C (p.Ser608Arg) n.1736A>C c.900A>C c.1873A>C (p.Ser625Arg) c.1408A>C (p.Ser470Arg) | |
18 | g.23545086T>A | CA503522039 | NPC1 | c.1821A>T (p.Arg607=) n.1735A>T c.899A>T c.1872A>T (p.Arg624=) c.1407A>T (p.Arg469=) | |
18 | g.23545086T>C | CA503522040 | NPC1 | c.1821A>G (p.Arg607=) n.1735A>G c.899A>G c.1872A>G (p.Arg624=) c.1407A>G (p.Arg469=) | |
18 | g.23545086T>G | CA503522041 | NPC1 | c.1821A>C (p.Arg607=) n.1735A>C c.899A>C c.1872A>C (p.Arg624=) c.1407A>C (p.Arg469=) | |
18 | g.23545087C>A | CA401773058 | NPC1 | c.1820G>T (p.Arg607Leu) n.1734G>T c.898G>T c.1871G>T (p.Arg624Leu) c.1406G>T (p.Arg469Leu) | |
18 | g.23545087C>G | CA401773059 | NPC1 | c.1820G>C (p.Arg607Pro) n.1734G>C c.898G>C c.1871G>C (p.Arg624Pro) c.1406G>C (p.Arg469Pro) | gnomAD v4 COSMIC |
18 | g.23545087C>T | CA401773060 | NPC1 | c.1820G>A (p.Arg607Gln) n.1734G>A c.898G>A c.1871G>A (p.Arg624Gln) c.1406G>A (p.Arg469Gln) | ClinVar gnomAD v4 |
18 | g.23545088G>A | CA10588676 | NPC1 | c.1819C>T (p.Arg607Ter) n.1733C>T c.897C>T c.1870C>T (p.Arg624Ter) c.1405C>T (p.Arg469Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545088G>C | CA401773065 | NPC1 | c.1819C>G (p.Arg607Gly) n.1733C>G c.897C>G c.1870C>G (p.Arg624Gly) c.1405C>G (p.Arg469Gly) | |
18 | g.23545088G= | CA2290168417 | NPC1 | c.1819C= (p.Arg607=) n.1733C= c.897C= c.1870C= (p.Arg624=) c.1405C= (p.Arg469=) | |
18 | g.23545088G>T | CA8913364 | NPC1 | c.1819C>A (p.Arg607=) n.1733C>A c.897C>A c.1870C>A (p.Arg624=) c.1405C>A (p.Arg469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545089T>A | CA401773069 | NPC1 | c.1818A>T (p.Glu606Asp) n.1732A>T c.896A>T c.1869A>T (p.Glu623Asp) c.1404A>T (p.Glu468Asp) | |
18 | g.23545089T>C | CA503522042 | NPC1 | c.1818A>G (p.Glu606=) n.1732A>G c.896A>G c.1869A>G (p.Glu623=) c.1404A>G (p.Glu468=) | |
18 | g.23545089T>G | CA401773070 | NPC1 | c.1818A>C (p.Glu606Asp) n.1732A>C c.896A>C c.1869A>C (p.Glu623Asp) c.1404A>C (p.Glu468Asp) | |
18 | g.23545090T>A | CA401773074 | NPC1 | c.1817A>T (p.Glu606Val) n.1731A>T c.895A>T c.1868A>T (p.Glu623Val) c.1403A>T (p.Glu468Val) | |
18 | g.23545090T>C | CA401773080 | NPC1 | c.1817A>G (p.Glu606Gly) n.1731A>G c.895A>G c.1868A>G (p.Glu623Gly) c.1403A>G (p.Glu468Gly) | |
18 | g.23545090T>G | CA401773077 | NPC1 | c.1817A>C (p.Glu606Ala) n.1731A>C c.895A>C c.1868A>C (p.Glu623Ala) c.1403A>C (p.Glu468Ala) | gnomAD v4 |
18 | g.23545091C>A | CA401773083 | NPC1 | c.1816G>T (p.Glu606Ter) n.1730G>T c.894G>T c.1867G>T (p.Glu623Ter) c.1402G>T (p.Glu468Ter) | |
18 | g.23545091C>G | CA401773090 | NPC1 | c.1816G>C (p.Glu606Gln) n.1730G>C c.894G>C c.1867G>C (p.Glu623Gln) c.1402G>C (p.Glu468Gln) | gnomAD v4 |
18 | g.23545091C>T | CA401773087 | NPC1 | c.1816G>A (p.Glu606Lys) n.1730G>A c.894G>A c.1867G>A (p.Glu623Lys) c.1402G>A (p.Glu468Lys) | |
18 | g.23545092A= | CA2290168418 | NPC1 | c.1815T= (p.Ala605=) n.1729T= c.893T= c.1866T= (p.Ala622=) c.1401T= (p.Ala467=) | |
18 | g.23545092A>C | CA503522043 | NPC1 | c.1815T>G (p.Ala605=) n.1729T>G c.893T>G c.1866T>G (p.Ala622=) c.1401T>G (p.Ala467=) | |
18 | g.23545092A>G | CA503522045 | NPC1 | c.1815T>C (p.Ala605=) n.1729T>C c.893T>C c.1866T>C (p.Ala622=) c.1401T>C (p.Ala467=) | dbSNP |
18 | g.23545092A>T | CA503522044 | NPC1 | c.1815T>A (p.Ala605=) n.1729T>A c.893T>A c.1866T>A (p.Ala622=) c.1401T>A (p.Ala467=) | |
18 | g.23545093G>A | CA401773094 | NPC1 | c.1814C>T (p.Ala605Val) n.1728C>T c.892C>T c.1865C>T (p.Ala622Val) c.1400C>T (p.Ala467Val) | |
18 | g.23545093G>C | CA401773100 | NPC1 | c.1814C>G (p.Ala605Gly) n.1728C>G c.892C>G c.1865C>G (p.Ala622Gly) c.1400C>G (p.Ala467Gly) | gnomAD v4 |
18 | g.23545093G>T | CA401773097 | NPC1 | c.1814C>A (p.Ala605Asp) n.1728C>A c.892C>A c.1865C>A (p.Ala622Asp) c.1400C>A (p.Ala467Asp) | |
18 | g.23545094C>A | CA401773103 | NPC1 | c.1813G>T (p.Ala605Ser) n.1727G>T c.891G>T c.1864G>T (p.Ala622Ser) c.1399G>T (p.Ala467Ser) | |
18 | g.23545094C>G | CA401773116 | NPC1 | c.1813G>C (p.Ala605Pro) n.1727G>C c.891G>C c.1864G>C (p.Ala622Pro) c.1399G>C (p.Ala467Pro) | |
18 | g.23545094C>T | CA401773113 | NPC1 | c.1813G>A (p.Ala605Thr) n.1727G>A c.891G>A c.1864G>A (p.Ala622Thr) c.1399G>A (p.Ala467Thr) | |
18 | g.23545095A= | CA2290168419 | NPC1 | c.1812T= (p.Thr604=) n.1726T= c.890T= c.1863T= (p.Thr621=) c.1398T= (p.Thr466=) | |
18 | g.23545095A>C | CA503522046 | NPC1 | c.1812T>G (p.Thr604=) n.1726T>G c.890T>G c.1863T>G (p.Thr621=) c.1398T>G (p.Thr466=) | dbSNP |
18 | g.23545095A>G | CA503522047 | NPC1 | c.1812T>C (p.Thr604=) n.1726T>C c.890T>C c.1863T>C (p.Thr621=) c.1398T>C (p.Thr466=) | |
18 | g.23545095A>T | CA503522048 | NPC1 | c.1812T>A (p.Thr604=) n.1726T>A c.890T>A c.1863T>A (p.Thr621=) c.1398T>A (p.Thr466=) | |
18 | g.23545095dup | CA2695227331 | NPC1 | c.1812dup (p.Ala605CysfsTer2) n.1726dup c.890dup c.1863dup (p.Ala622CysfsTer2) c.1398dup (p.Ala467CysfsTer2) | |
18 | g.23545096G>A | CA8913365 | NPC1 | c.1811C>T (p.Thr604Ile) n.1725C>T c.889C>T c.1862C>T (p.Thr621Ile) c.1397C>T (p.Thr466Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23545096G>C | CA401773122 | NPC1 | c.1811C>G (p.Thr604Ser) n.1725C>G c.889C>G c.1862C>G (p.Thr621Ser) c.1397C>G (p.Thr466Ser) | |
18 | g.23545096G= | CA2290168420 | NPC1 | c.1811C= (p.Thr604=) n.1725C= c.889C= c.1862C= (p.Thr621=) c.1397C= (p.Thr466=) | |
18 | g.23545096G>T | CA401773124 | NPC1 | c.1811C>A (p.Thr604Asn) n.1725C>A c.889C>A c.1862C>A (p.Thr621Asn) c.1397C>A (p.Thr466Asn) | |
18 | g.23545097T>A | CA401773127 | NPC1 | c.1810A>T (p.Thr604Ser) n.1724A>T c.888A>T c.1861A>T (p.Thr621Ser) c.1396A>T (p.Thr466Ser) | |
18 | g.23545097T>C | CA401773129 | NPC1 | c.1810A>G (p.Thr604Ala) n.1724A>G c.888A>G c.1861A>G (p.Thr621Ala) c.1396A>G (p.Thr466Ala) | gnomAD v4 |
18 | g.23545097T>G | CA401773131 | NPC1 | c.1810A>C (p.Thr604Pro) n.1724A>C c.888A>C c.1861A>C (p.Thr621Pro) c.1396A>C (p.Thr466Pro) | |
18 | g.23545098G>A | CA503522050 | NPC1 | c.1809C>T (p.Phe603=) n.1723C>T c.887C>T c.1860C>T (p.Phe620=) c.1395C>T (p.Phe465=) | gnomAD v4 |
18 | g.23545098G>C | CA401773134 | NPC1 | c.1809C>G (p.Phe603Leu) n.1723C>G c.887C>G c.1860C>G (p.Phe620Leu) c.1395C>G (p.Phe465Leu) | |
18 | g.23545098G>T | CA401773136 | NPC1 | c.1809C>A (p.Phe603Leu) n.1723C>A c.887C>A c.1860C>A (p.Phe620Leu) c.1395C>A (p.Phe465Leu) |