| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 5 | g.150541596A>G | CA447164117 | NDST1 | c.1776A>G (p.Lys592=) c.504A>G (p.Lys168=) c.789A>G (p.Lys263=) n.2254A>G n.2284A>G n.2873A>G | |
| 5 | g.150541596A>T | CA361768218 | NDST1 | c.1776A>T (p.Lys592Asn) c.504A>T (p.Lys168Asn) c.789A>T (p.Lys263Asn) n.2254A>T n.2284A>T n.2873A>T | |
| 5 | g.150541597G>A | CA361768219 | NDST1 | c.1777G>A (p.Asp593Asn) c.505G>A (p.Asp169Asn) c.790G>A (p.Asp264Asn) n.2255G>A n.2285G>A n.2874G>A | |
| 5 | g.150541597G>C | CA361768220 | NDST1 | c.1777G>C (p.Asp593His) c.505G>C (p.Asp169His) c.790G>C (p.Asp264His) n.2255G>C n.2285G>C n.2874G>C | |
| 5 | g.150541597G>T | CA361768221 | NDST1 | c.1777G>T (p.Asp593Tyr) c.505G>T (p.Asp169Tyr) c.790G>T (p.Asp264Tyr) n.2255G>T n.2285G>T n.2874G>T | |
| 5 | g.150541598A>C | CA361768222 | NDST1 | c.1778A>C (p.Asp593Ala) c.506A>C (p.Asp169Ala) c.791A>C (p.Asp264Ala) n.2256A>C n.2286A>C n.2875A>C | |
| 5 | g.150541598A>G | CA361768223 | NDST1 | c.1778A>G (p.Asp593Gly) c.506A>G (p.Asp169Gly) c.791A>G (p.Asp264Gly) n.2256A>G n.2286A>G n.2875A>G | |
| 5 | g.150541598A>T | CA361768224 | NDST1 | c.1778A>T (p.Asp593Val) c.506A>T (p.Asp169Val) c.791A>T (p.Asp264Val) n.2256A>T n.2286A>T n.2875A>T | |
| 5 | g.150541599C>A | CA361768225 | NDST1 | c.1779C>A (p.Asp593Glu) c.507C>A (p.Asp169Glu) c.792C>A (p.Asp264Glu) n.2257C>A n.2287C>A n.2876C>A | |
| 5 | g.150541599C>G | CA361768226 | NDST1 | c.1779C>G (p.Asp593Glu) c.507C>G (p.Asp169Glu) c.792C>G (p.Asp264Glu) n.2257C>G n.2287C>G n.2876C>G | |
| 5 | g.150541599C>T | CA447164121 | NDST1 | c.1779C>T (p.Asp593=) c.507C>T (p.Asp169=) c.792C>T (p.Asp264=) n.2257C>T n.2287C>T n.2876C>T | |
| 5 | g.150541600A>C | CA361768227 | NDST1 | c.1780A>C (p.Ile594Leu) c.508A>C (p.Ile170Leu) c.793A>C (p.Ile265Leu) n.2258A>C n.2288A>C n.2877A>C | |
| 5 | g.150541600A>G | CA361768228 | NDST1 | c.1780A>G (p.Ile594Val) c.508A>G (p.Ile170Val) c.793A>G (p.Ile265Val) n.2258A>G n.2288A>G n.2877A>G | |
| 5 | g.150541600A>T | CA361768229 | NDST1 | c.1780A>T (p.Ile594Phe) c.508A>T (p.Ile170Phe) c.793A>T (p.Ile265Phe) n.2258A>T n.2288A>T n.2877A>T | |
| 5 | g.150541601T>A | CA361768231 | NDST1 | c.1781T>A (p.Ile594Asn) c.509T>A (p.Ile170Asn) c.794T>A (p.Ile265Asn) n.2259T>A n.2289T>A n.2878T>A | |
| 5 | g.150541601T>C | CA361768232 | NDST1 | c.1781T>C (p.Ile594Thr) c.509T>C (p.Ile170Thr) c.794T>C (p.Ile265Thr) n.2259T>C n.2289T>C n.2878T>C | |
| 5 | g.150541601T>G | CA361768230 | NDST1 | c.1781T>G (p.Ile594Ser) c.509T>G (p.Ile170Ser) c.794T>G (p.Ile265Ser) n.2259T>G n.2289T>G n.2878T>G | |
| 5 | g.150541602C>A | CA447164124 | NDST1 | c.1782C>A (p.Ile594=) c.510C>A (p.Ile170=) c.795C>A (p.Ile265=) n.2260C>A n.2290C>A n.2879C>A |