| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150541574C>A | CA361768165 | NDST1 | c.1754C>A (p.Pro585His) c.482C>A (p.Pro161His) c.767C>A (p.Pro256His) n.2232C>A n.2262C>A n.2851C>A | |
| 5 | g.150541574C= | CA1590995834 | NDST1 | c.1754C= (p.Pro585=) c.482C= (p.Pro161=) c.767C= (p.Pro256=) n.2232C= n.2262C= n.2851C= | |
| 5 | g.150541574C>G | CA361768166 | NDST1 | c.1754C>G (p.Pro585Arg) c.482C>G (p.Pro161Arg) c.767C>G (p.Pro256Arg) n.2232C>G n.2262C>G n.2851C>G | |
| 5 | g.150541574C>T | CA361768167 | NDST1 | c.1754C>T (p.Pro585Leu) c.482C>T (p.Pro161Leu) c.767C>T (p.Pro256Leu) n.2232C>T n.2262C>T n.2851C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150541575C>A | CA447164097 | NDST1 | c.1755C>A (p.Pro585=) c.483C>A (p.Pro161=) c.768C>A (p.Pro256=) n.2233C>A n.2263C>A n.2852C>A | |
| 5 | g.150541575C= | CA1590995835 | NDST1 | c.1755C= (p.Pro585=) c.483C= (p.Pro161=) c.768C= (p.Pro256=) n.2233C= n.2263C= n.2852C= | |
| 5 | g.150541575C>G | CA447164098 | NDST1 | c.1755C>G (p.Pro585=) c.483C>G (p.Pro161=) c.768C>G (p.Pro256=) n.2233C>G n.2263C>G n.2852C>G | |
| 5 | g.150541575C>T | CA447164099 | NDST1 | c.1755C>T (p.Pro585=) c.483C>T (p.Pro161=) c.768C>T (p.Pro256=) n.2233C>T n.2263C>T n.2852C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150541576T>A | CA361768168 | NDST1 | c.1756T>A (p.Cys586Ser) c.484T>A (p.Cys162Ser) c.769T>A (p.Cys257Ser) n.2234T>A n.2264T>A n.2853T>A | |
| 5 | g.150541576T>C | CA361768169 | NDST1 | c.1756T>C (p.Cys586Arg) c.484T>C (p.Cys162Arg) c.769T>C (p.Cys257Arg) n.2234T>C n.2264T>C n.2853T>C | |
| 5 | g.150541576T>G | CA361768170 | NDST1 | c.1756T>G (p.Cys586Gly) c.484T>G (p.Cys162Gly) c.769T>G (p.Cys257Gly) n.2234T>G n.2264T>G n.2853T>G | |
| 5 | g.150541577G>A | CA361768171 | NDST1 | c.1757G>A (p.Cys586Tyr) c.485G>A (p.Cys162Tyr) c.770G>A (p.Cys257Tyr) n.2235G>A n.2265G>A n.2854G>A | |
| 5 | g.150541577G>C | CA361768172 | NDST1 | c.1757G>C (p.Cys586Ser) c.485G>C (p.Cys162Ser) c.770G>C (p.Cys257Ser) n.2235G>C n.2265G>C n.2854G>C | |
| 5 | g.150541577G>T | CA361768173 | NDST1 | c.1757G>T (p.Cys586Phe) c.485G>T (p.Cys162Phe) c.770G>T (p.Cys257Phe) n.2235G>T n.2265G>T n.2854G>T | COSMIC |
| 5 | g.150541578C>A | CA361768174 | NDST1 | c.1758C>A (p.Cys586Ter) c.486C>A (p.Cys162Ter) c.771C>A (p.Cys257Ter) n.2236C>A n.2266C>A n.2855C>A | |
| 5 | g.150541578C= | CA1590995836 | NDST1 | c.1758C= (p.Cys586=) c.486C= (p.Cys162=) c.771C= (p.Cys257=) n.2236C= n.2266C= n.2855C= | |
| 5 | g.150541578C>G | CA361768175 | NDST1 | c.1758C>G (p.Cys586Trp) c.486C>G (p.Cys162Trp) c.771C>G (p.Cys257Trp) n.2236C>G n.2266C>G n.2855C>G | |
| 5 | g.150541578C>T | CA3512786 | NDST1 | c.1758C>T (p.Cys586=) c.486C>T (p.Cys162=) c.771C>T (p.Cys257=) n.2236C>T n.2266C>T n.2855C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150541579G>A | CA361768176 | NDST1 | c.1759G>A (p.Glu587Lys) c.487G>A (p.Glu163Lys) c.772G>A (p.Glu258Lys) n.2237G>A n.2267G>A n.2856G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150541579G>C | CA361768177 | NDST1 | c.1759G>C (p.Glu587Gln) c.487G>C (p.Glu163Gln) c.772G>C (p.Glu258Gln) n.2237G>C n.2267G>C n.2856G>C | |
| 5 | g.150541579G= | CA1590995837 | NDST1 | c.1759G= (p.Glu587=) c.487G= (p.Glu163=) c.772G= (p.Glu258=) n.2237G= n.2267G= n.2856G= | |
| 5 | g.150541579G>T | CA361768178 | NDST1 | c.1759G>T (p.Glu587Ter) c.487G>T (p.Glu163Ter) c.772G>T (p.Glu258Ter) n.2237G>T n.2267G>T n.2856G>T | |
| 5 | g.150541580A= | CA1590995838 | NDST1 | c.1760A= (p.Glu587=) c.488A= (p.Glu163=) c.773A= (p.Glu258=) n.2238A= n.2268A= n.2857A= | |
| 5 | g.150541580A>C | CA361768179 | NDST1 | c.1760A>C (p.Glu587Ala) c.488A>C (p.Glu163Ala) c.773A>C (p.Glu258Ala) n.2238A>C n.2268A>C n.2857A>C | |
| 5 | g.150541580A>G | CA3512787 | NDST1 | c.1760A>G (p.Glu587Gly) c.488A>G (p.Glu163Gly) c.773A>G (p.Glu258Gly) n.2238A>G n.2268A>G n.2857A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150541580A>T | CA361768180 | NDST1 | c.1760A>T (p.Glu587Val) c.488A>T (p.Glu163Val) c.773A>T (p.Glu258Val) n.2238A>T n.2268A>T n.2857A>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150541581G>A | CA447164100 | NDST1 | c.1761G>A (p.Glu587=) c.489G>A (p.Glu163=) c.774G>A (p.Glu258=) n.2239G>A n.2269G>A n.2858G>A | |
| 5 | g.150541581G>C | CA361768181 | NDST1 | c.1761G>C (p.Glu587Asp) c.489G>C (p.Glu163Asp) c.774G>C (p.Glu258Asp) n.2239G>C n.2269G>C n.2858G>C | |
| 5 | g.150541581G>T | CA361768182 | NDST1 | c.1761G>T (p.Glu587Asp) c.489G>T (p.Glu163Asp) c.774G>T (p.Glu258Asp) n.2239G>T n.2269G>T n.2858G>T | |
| 5 | g.150541582G>A | CA361768183 | NDST1 | c.1762G>A (p.Asp588Asn) c.490G>A (p.Asp164Asn) c.775G>A (p.Asp259Asn) n.2240G>A n.2270G>A n.2859G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150541582G>C | CA361768184 | NDST1 | c.1762G>C (p.Asp588His) c.490G>C (p.Asp164His) c.775G>C (p.Asp259His) n.2240G>C n.2270G>C n.2859G>C | |
| 5 | g.150541582G= | CA1590995839 | NDST1 | c.1762G= (p.Asp588=) c.490G= (p.Asp164=) c.775G= (p.Asp259=) n.2240G= n.2270G= n.2859G= | |
| 5 | g.150541582G>T | CA361768185 | NDST1 | c.1762G>T (p.Asp588Tyr) c.490G>T (p.Asp164Tyr) c.775G>T (p.Asp259Tyr) n.2240G>T n.2270G>T n.2859G>T | |
| 5 | g.150541583A= | CA1590995840 | NDST1 | c.1763A= (p.Asp588=) c.491A= (p.Asp164=) c.776A= (p.Asp259=) n.2241A= n.2271A= n.2860A= | |
| 5 | g.150541583A>C | CA361768187 | NDST1 | c.1763A>C (p.Asp588Ala) c.491A>C (p.Asp164Ala) c.776A>C (p.Asp259Ala) n.2241A>C n.2271A>C n.2860A>C | |
| 5 | g.150541583A>G | CA361768188 | NDST1 | c.1763A>G (p.Asp588Gly) c.491A>G (p.Asp164Gly) c.776A>G (p.Asp259Gly) n.2241A>G n.2271A>G n.2860A>G | dbSNP gnomAD v4 |
| 5 | g.150541583A>T | CA361768186 | NDST1 | c.1763A>T (p.Asp588Val) c.491A>T (p.Asp164Val) c.776A>T (p.Asp259Val) n.2241A>T n.2271A>T n.2860A>T | |
| 5 | g.150541584C>A | CA361768189 | NDST1 | c.1764C>A (p.Asp588Glu) c.492C>A (p.Asp164Glu) c.777C>A (p.Asp259Glu) n.2242C>A n.2272C>A n.2861C>A | |
| 5 | g.150541584C= | CA1590995841 | NDST1 | c.1764C= (p.Asp588=) c.492C= (p.Asp164=) c.777C= (p.Asp259=) n.2242C= n.2272C= n.2861C= | |
| 5 | g.150541584C>G | CA361768190 | NDST1 | c.1764C>G (p.Asp588Glu) c.492C>G (p.Asp164Glu) c.777C>G (p.Asp259Glu) n.2242C>G n.2272C>G n.2861C>G | dbSNP gnomAD v2 |
| 5 | g.150541584C>T | CA3512788 | NDST1 | c.1764C>T (p.Asp588=) c.492C>T (p.Asp164=) c.777C>T (p.Asp259=) n.2242C>T n.2272C>T n.2861C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150541585A>C | CA361768191 | NDST1 | c.1765A>C (p.Lys589Gln) c.493A>C (p.Lys165Gln) c.778A>C (p.Lys260Gln) n.2243A>C n.2273A>C n.2862A>C | |
| 5 | g.150541585A>G | CA361768192 | NDST1 | c.1765A>G (p.Lys589Glu) c.493A>G (p.Lys165Glu) c.778A>G (p.Lys260Glu) n.2243A>G n.2273A>G n.2862A>G | |
| 5 | g.150541585A>T | CA361768193 | NDST1 | c.1765A>T (p.Lys589Ter) c.493A>T (p.Lys165Ter) c.778A>T (p.Lys260Ter) n.2243A>T n.2273A>T n.2862A>T | |
| 5 | g.150541586A>C | CA361768194 | NDST1 | c.1766A>C (p.Lys589Thr) c.494A>C (p.Lys165Thr) c.779A>C (p.Lys260Thr) n.2244A>C n.2274A>C n.2863A>C | |
| 5 | g.150541586A>G | CA361768196 | NDST1 | c.1766A>G (p.Lys589Arg) c.494A>G (p.Lys165Arg) c.779A>G (p.Lys260Arg) n.2244A>G n.2274A>G n.2863A>G | gnomAD v4 |
| 5 | g.150541586A>T | CA361768195 | NDST1 | c.1766A>T (p.Lys589Ile) c.494A>T (p.Lys165Ile) c.779A>T (p.Lys260Ile) n.2244A>T n.2274A>T n.2863A>T | |
| 5 | g.150541587A>C | CA361768197 | NDST1 | c.1767A>C (p.Lys589Asn) c.495A>C (p.Lys165Asn) c.780A>C (p.Lys260Asn) n.2245A>C n.2275A>C n.2864A>C | |
| 5 | g.150541587A>G | CA447164104 | NDST1 | c.1767A>G (p.Lys589=) c.495A>G (p.Lys165=) c.780A>G (p.Lys260=) n.2245A>G n.2275A>G n.2864A>G | |
| 5 | g.150541587A>T | CA361768198 | NDST1 | c.1767A>T (p.Lys589Asn) c.495A>T (p.Lys165Asn) c.780A>T (p.Lys260Asn) n.2245A>T n.2275A>T n.2864A>T |