| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 5 | g.150541588C>A | CA361768199 | NDST1 | c.1768C>A (p.Arg590Ser) c.496C>A (p.Arg166Ser) c.781C>A (p.Arg261Ser) n.2246C>A n.2276C>A n.2865C>A | |
| 5 | g.150541588C= | CA1590995842 | NDST1 | c.1768C= (p.Arg590=) c.496C= (p.Arg166=) c.781C= (p.Arg261=) n.2246C= n.2276C= n.2865C= | |
| 5 | g.150541588C>G | CA361768200 | NDST1 | c.1768C>G (p.Arg590Gly) c.496C>G (p.Arg166Gly) c.781C>G (p.Arg261Gly) n.2246C>G n.2276C>G n.2865C>G | |
| 5 | g.150541588C>T | CA361768201 | NDST1 | c.1768C>T (p.Arg590Cys) c.496C>T (p.Arg166Cys) c.781C>T (p.Arg261Cys) n.2246C>T n.2276C>T n.2865C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150541589G>A | CA3512789 | NDST1 | c.1769G>A (p.Arg590His) c.497G>A (p.Arg166His) c.782G>A (p.Arg261His) n.2247G>A n.2277G>A n.2866G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150541589G>C | CA361768203 | NDST1 | c.1769G>C (p.Arg590Pro) c.497G>C (p.Arg166Pro) c.782G>C (p.Arg261Pro) n.2247G>C n.2277G>C n.2866G>C | |
| 5 | g.150541589G= | CA1590995843 | NDST1 | c.1769G= (p.Arg590=) c.497G= (p.Arg166=) c.782G= (p.Arg261=) n.2247G= n.2277G= n.2866G= | |
| 5 | g.150541589G>T | CA361768202 | NDST1 | c.1769G>T (p.Arg590Leu) c.497G>T (p.Arg166Leu) c.782G>T (p.Arg261Leu) n.2247G>T n.2277G>T n.2866G>T | |
| 5 | g.150541590T>A | CA447164110 | NDST1 | c.1770T>A (p.Arg590=) c.498T>A (p.Arg166=) c.783T>A (p.Arg261=) n.2248T>A n.2278T>A n.2867T>A | |
| 5 | g.150541590T>C | CA447164109 | NDST1 | c.1770T>C (p.Arg590=) c.498T>C (p.Arg166=) c.783T>C (p.Arg261=) n.2248T>C n.2278T>C n.2867T>C | |
| 5 | g.150541590T>G | CA447164108 | NDST1 | c.1770T>G (p.Arg590=) c.498T>G (p.Arg166=) c.783T>G (p.Arg261=) n.2248T>G n.2278T>G n.2867T>G | |
| 5 | g.150541591C>A | CA361768206 | NDST1 | c.1771C>A (p.His591Asn) c.499C>A (p.His167Asn) c.784C>A (p.His262Asn) n.2249C>A n.2279C>A n.2868C>A | |
| 5 | g.150541591C>G | CA361768204 | NDST1 | c.1771C>G (p.His591Asp) c.499C>G (p.His167Asp) c.784C>G (p.His262Asp) n.2249C>G n.2279C>G n.2868C>G | |
| 5 | g.150541591C>T | CA361768205 | NDST1 | c.1771C>T (p.His591Tyr) c.499C>T (p.His167Tyr) c.784C>T (p.His262Tyr) n.2249C>T n.2279C>T n.2868C>T | |
| 5 | g.150541592A>C | CA361768207 | NDST1 | c.1772A>C (p.His591Pro) c.500A>C (p.His167Pro) c.785A>C (p.His262Pro) n.2250A>C n.2280A>C n.2869A>C | |
| 5 | g.150541592A>G | CA361768208 | NDST1 | c.1772A>G (p.His591Arg) c.500A>G (p.His167Arg) c.785A>G (p.His262Arg) n.2250A>G n.2280A>G n.2869A>G | |
| 5 | g.150541592A>T | CA361768209 | NDST1 | c.1772A>T (p.His591Leu) c.500A>T (p.His167Leu) c.785A>T (p.His262Leu) n.2250A>T n.2280A>T n.2869A>T | |
| 5 | g.150541593C>A | CA361768210 | NDST1 | c.1773C>A (p.His591Gln) c.501C>A (p.His167Gln) c.786C>A (p.His262Gln) n.2251C>A n.2281C>A n.2870C>A | |
| 5 | g.150541593C= | CA1590995844 | NDST1 | c.1773C= (p.His591=) c.501C= (p.His167=) c.786C= (p.His262=) n.2251C= n.2281C= n.2870C= | |
| 5 | g.150541593C>G | CA361768211 | NDST1 | c.1773C>G (p.His591Gln) c.501C>G (p.His167Gln) c.786C>G (p.His262Gln) n.2251C>G n.2281C>G n.2870C>G | gnomAD v4 |
| 5 | g.150541593C>T | CA3512790 | NDST1 | c.1773C>T (p.His591=) c.501C>T (p.His167=) c.786C>T (p.His262=) n.2251C>T n.2281C>T n.2870C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150541594A= | CA1590995845 | NDST1 | c.1774A= (p.Lys592=) c.502A= (p.Lys168=) c.787A= (p.Lys263=) n.2252A= n.2282A= n.2871A= | |
| 5 | g.150541594A>C | CA361768212 | NDST1 | c.1774A>C (p.Lys592Gln) c.502A>C (p.Lys168Gln) c.787A>C (p.Lys263Gln) n.2252A>C n.2282A>C n.2871A>C | |
| 5 | g.150541594A>G | CA129132567 | NDST1 | c.1774A>G (p.Lys592Glu) c.502A>G (p.Lys168Glu) c.787A>G (p.Lys263Glu) n.2252A>G n.2282A>G n.2871A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150541594A>T | CA361768213 | NDST1 | c.1774A>T (p.Lys592Ter) c.502A>T (p.Lys168Ter) c.787A>T (p.Lys263Ter) n.2252A>T n.2282A>T n.2871A>T | |
| 5 | g.150541595A>C | CA361768216 | NDST1 | c.1775A>C (p.Lys592Thr) c.503A>C (p.Lys168Thr) c.788A>C (p.Lys263Thr) n.2253A>C n.2283A>C n.2872A>C | |
| 5 | g.150541595A>G | CA361768215 | NDST1 | c.1775A>G (p.Lys592Arg) c.503A>G (p.Lys168Arg) c.788A>G (p.Lys263Arg) n.2253A>G n.2283A>G n.2872A>G | |
| 5 | g.150541595A>T | CA361768214 | NDST1 | c.1775A>T (p.Lys592Ile) c.503A>T (p.Lys168Ile) c.788A>T (p.Lys263Ile) n.2253A>T n.2283A>T n.2872A>T | |
| 5 | g.150541596A>C | CA361768217 | NDST1 | c.1776A>C (p.Lys592Asn) c.504A>C (p.Lys168Asn) c.789A>C (p.Lys263Asn) n.2254A>C n.2284A>C n.2873A>C |