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 |
|---|---|---|---|---|---|
| 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 |