Evidence Repository - SERVICE OUTAGE2026-04-17T09:00:00-0500 — 2026-04-22T17:00:00-0500
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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= | dbSNP |
| 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 | dbSNP 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= | dbSNP |
| 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 | |
| 5 | g.150541602C= | CA1590995846 | NDST1 | c.1782C= (p.Ile594=) c.510C= (p.Ile170=) c.795C= (p.Ile265=) n.2260C= n.2290C= n.2879C= | dbSNP |
| 5 | g.150541602C>G | CA361768233 | NDST1 | c.1782C>G (p.Ile594Met) c.510C>G (p.Ile170Met) c.795C>G (p.Ile265Met) n.2260C>G n.2290C>G n.2879C>G | dbSNP |
| 5 | g.150541602C>T | CA447164126 | NDST1 | c.1782C>T (p.Ile594=) c.510C>T (p.Ile170=) c.795C>T (p.Ile265=) n.2260C>T n.2290C>T n.2879C>T | |
| 5 | g.150541603T>A | CA361768234 | NDST1 | c.1783T>A (p.Trp595Arg) c.511T>A (p.Trp171Arg) c.796T>A (p.Trp266Arg) n.2261T>A n.2291T>A n.2880T>A | |
| 5 | g.150541603T>C | CA361768235 | NDST1 | c.1783T>C (p.Trp595Arg) c.511T>C (p.Trp171Arg) c.796T>C (p.Trp266Arg) n.2261T>C n.2291T>C n.2880T>C | |
| 5 | g.150541603T>G | CA361768236 | NDST1 | c.1783T>G (p.Trp595Gly) c.511T>G (p.Trp171Gly) c.796T>G (p.Trp266Gly) n.2261T>G n.2291T>G n.2880T>G | |
| 5 | g.150541604G>A | CA361768237 | NDST1 | c.1784G>A (p.Trp595Ter) c.512G>A (p.Trp171Ter) c.797G>A (p.Trp266Ter) n.2262G>A n.2292G>A n.2881G>A | |
| 5 | g.150541604G>C | CA361768238 | NDST1 | c.1784G>C (p.Trp595Ser) c.512G>C (p.Trp171Ser) c.797G>C (p.Trp266Ser) n.2262G>C n.2292G>C n.2881G>C | |
| 5 | g.150541604G= | CA1590995847 | NDST1 | c.1784G= (p.Trp595=) c.512G= (p.Trp171=) c.797G= (p.Trp266=) n.2262G= n.2292G= n.2881G= | dbSNP |
| 5 | g.150541604G>T | CA361768239 | NDST1 | c.1784G>T (p.Trp595Leu) c.512G>T (p.Trp171Leu) c.797G>T (p.Trp266Leu) n.2262G>T n.2292G>T n.2881G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150541605G>A | CA361768240 | NDST1 | c.1785G>A (p.Trp595Ter) c.513G>A (p.Trp171Ter) c.798G>A (p.Trp266Ter) n.2263G>A n.2293G>A n.2882G>A | |
| 5 | g.150541605G>C | CA361768241 | NDST1 | c.1785G>C (p.Trp595Cys) c.513G>C (p.Trp171Cys) c.798G>C (p.Trp266Cys) n.2263G>C n.2293G>C n.2882G>C | |
| 5 | g.150541605G>T | CA361768242 | NDST1 | c.1785G>T (p.Trp595Cys) c.513G>T (p.Trp171Cys) c.798G>T (p.Trp266Cys) n.2263G>T n.2293G>T n.2882G>T | |
| 5 | g.150541606T>A | CA361768243 | NDST1 | c.1786T>A (p.Ser596Thr) c.514T>A (p.Ser172Thr) c.799T>A (p.Ser267Thr) n.2264T>A n.2294T>A n.2883T>A | |
| 5 | g.150541606T>C | CA129132581 | NDST1 | c.1786T>C (p.Ser596Pro) c.514T>C (p.Ser172Pro) c.799T>C (p.Ser267Pro) n.2264T>C n.2294T>C n.2883T>C | dbSNP |
| 5 | g.150541606T>G | CA361768244 | NDST1 | c.1786T>G (p.Ser596Ala) c.514T>G (p.Ser172Ala) c.799T>G (p.Ser267Ala) n.2264T>G n.2294T>G n.2883T>G | dbSNP gnomAD v4 |
| 5 | g.150541606T= | CA1590995848 | NDST1 | c.1786T= (p.Ser596=) c.514T= (p.Ser172=) c.799T= (p.Ser267=) n.2264T= n.2294T= n.2883T= | dbSNP |
| 5 | g.150541607C>A | CA361768246 | NDST1 | c.1787C>A (p.Ser596Tyr) c.515C>A (p.Ser172Tyr) c.800C>A (p.Ser267Tyr) n.2265C>A n.2295C>A n.2884C>A | |
| 5 | g.150541607C= | CA3128490191 | NDST1 | c.1787C= (p.Ser596=) c.515C= (p.Ser172=) c.800C= (p.Ser267=) n.2265C= n.2295C= n.2884C= | dbSNP |
| 5 | g.150541607C>G | CA361768247 | NDST1 | c.1787C>G (p.Ser596Cys) c.515C>G (p.Ser172Cys) c.800C>G (p.Ser267Cys) n.2265C>G n.2295C>G n.2884C>G | dbSNP |