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 |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308399_30308415del | CA2695232175 | NR0B1 | c.950_966del (p.Leu317HisfsTer?) c.65_81del (p.Leu22HisfsTer?) | |
| X | g.30308410_30308417del | CA2695232177 | NR0B1 | c.947_954del (p.Met316LysfsTer?) c.62_69del (p.Met21LysfsTer?) | |
| X | g.30308415G>A | CA515946130 | NR0B1 | c.949C>T (p.Leu317=) c.64C>T (p.Leu22=) | |
| X | g.30308415G>C | CA412547189 | NR0B1 | c.949C>G (p.Leu317Val) c.64C>G (p.Leu22Val) | |
| X | g.30308415G>T | CA412547190 | NR0B1 | c.949C>A (p.Leu317Met) c.64C>A (p.Leu22Met) | |
| X | g.30308416C>A | CA412547192 | NR0B1 | c.948G>T (p.Met316Ile) c.63G>T (p.Met21Ile) | dbSNP |
| X | g.30308416C= | CA2422040443 | NR0B1 | c.948G= (p.Met316=) c.63G= (p.Met21=) | |
| X | g.30308416C>G | CA412547194 | NR0B1 | c.948G>C (p.Met316Ile) c.63G>C (p.Met21Ile) | |
| X | g.30308416C>T | CA412547195 | NR0B1 | c.948G>A (p.Met316Ile) c.63G>A (p.Met21Ile) | dbSNP |
| X | g.30308417A>C | CA412547197 | NR0B1 | c.947T>G (p.Met316Arg) c.62T>G (p.Met21Arg) | |
| X | g.30308417A>G | CA412547199 | NR0B1 | c.947T>C (p.Met316Thr) c.62T>C (p.Met21Thr) | |
| X | g.30308417A>T | CA412547201 | NR0B1 | c.947T>A (p.Met316Lys) c.62T>A (p.Met21Lys) | |
| X | g.30308418T>A | CA412547202 | NR0B1 | c.946A>T (p.Met316Leu) c.61A>T (p.Met21Leu) | |
| X | g.30308418T>C | CA412547204 | NR0B1 | c.946A>G (p.Met316Val) c.61A>G (p.Met21Val) | gnomAD v4 |
| X | g.30308418T>G | CA412547207 | NR0B1 | c.946A>C (p.Met316Leu) c.61A>C (p.Met21Leu) | |
| X | g.30308419G>A | CA515946132 | NR0B1 | c.945C>T (p.Ser315=) c.60C>T (p.Ser20=) | dbSNP |
| X | g.30308419G>C | CA412547211 | NR0B1 | c.945C>G (p.Ser315Arg) c.60C>G (p.Ser20Arg) | |
| X | g.30308419G= | CA2422040444 | NR0B1 | c.945C= (p.Ser315=) c.60C= (p.Ser20=) | |
| X | g.30308419G>T | CA412547209 | NR0B1 | c.945C>A (p.Ser315Arg) c.60C>A (p.Ser20Arg) | |
| X | g.30308420C>A | CA412547213 | NR0B1 | c.944G>T (p.Ser315Ile) c.59G>T (p.Ser20Ile) | |
| X | g.30308420C= | CA2422040445 | NR0B1 | c.944G= (p.Ser315=) c.59G= (p.Ser20=) | |
| X | g.30308420C>G | CA412547214 | NR0B1 | c.944G>C (p.Ser315Thr) c.59G>C (p.Ser20Thr) | |
| X | g.30308420C>T | CA412547217 | NR0B1 | c.944G>A (p.Ser315Asn) c.59G>A (p.Ser20Asn) | dbSNP |
| X | g.30308421T>A | CA412547220 | NR0B1 | c.943A>T (p.Ser315Cys) c.58A>T (p.Ser20Cys) | |
| X | g.30308421T>C | CA412547221 | NR0B1 | c.943A>G (p.Ser315Gly) c.58A>G (p.Ser20Gly) | gnomAD v4 |
| X | g.30308421T>G | CA412547222 | NR0B1 | c.943A>C (p.Ser315Arg) c.58A>C (p.Ser20Arg) | |
| X | g.30308421_30308422dup | CA2695232179 | NR0B1 | c.942_943dup (p.Ser315ThrfsTer?) c.57_58dup (p.Ser20ThrfsTer?) | |
| X | g.30308422G>A | CA515946139 | NR0B1 | c.942C>T (p.Pro314=) c.57C>T (p.Pro19=) | |
| X | g.30308422G>C | CA515946140 | NR0B1 | c.942C>G (p.Pro314=) c.57C>G (p.Pro19=) | |
| X | g.30308422G>T | CA515946141 | NR0B1 | c.942C>A (p.Pro314=) c.57C>A (p.Pro19=) | |
| X | g.30308423G>A | CA412547225 | NR0B1 | c.941C>T (p.Pro314Leu) c.56C>T (p.Pro19Leu) | |
| X | g.30308423G>C | CA412547227 | NR0B1 | c.941C>G (p.Pro314Arg) c.56C>G (p.Pro19Arg) | |
| X | g.30308423G>T | CA412547229 | NR0B1 | c.941C>A (p.Pro314His) c.56C>A (p.Pro19His) | |
| X | g.30308424G>A | CA412547231 | NR0B1 | c.940C>T (p.Pro314Ser) c.55C>T (p.Pro19Ser) | |
| X | g.30308424G>C | CA10376334 | NR0B1 | c.940C>G (p.Pro314Ala) c.55C>G (p.Pro19Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308424G= | CA2422040446 | NR0B1 | c.940C= (p.Pro314=) c.55C= (p.Pro19=) | |
| X | g.30308424G>T | CA412547232 | NR0B1 | c.940C>A (p.Pro314Thr) c.55C>A (p.Pro19Thr) | gnomAD v4 |
| X | g.30308425C>A | CA10376335 | NR0B1 | c.939G>T (p.Glu313Asp) c.54G>T (p.Glu18Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308425C= | CA2422040447 | NR0B1 | c.939G= (p.Glu313=) c.54G= (p.Glu18=) | |
| X | g.30308425C>G | CA327975933 | NR0B1 | c.939G>C (p.Glu313Asp) c.54G>C (p.Glu18Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308425C>T | CA515946150 | NR0B1 | c.939G>A (p.Glu313=) c.54G>A (p.Glu18=) | |
| X | g.30308426T>A | CA412547233 | NR0B1 | c.938A>T (p.Glu313Val) c.53A>T (p.Glu18Val) | |
| X | g.30308426T>C | CA412547234 | NR0B1 | c.938A>G (p.Glu313Gly) c.53A>G (p.Glu18Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308426T>G | CA412547235 | NR0B1 | c.938A>C (p.Glu313Ala) c.53A>C (p.Glu18Ala) | |
| X | g.30308426T= | CA2422040448 | NR0B1 | c.938A= (p.Glu313=) c.53A= (p.Glu18=) | |
| X | g.30308427C>A | CA412547236 | NR0B1 | c.937G>T (p.Glu313Ter) c.52G>T (p.Glu18Ter) | gnomAD v4 |
| X | g.30308427C= | CA2422040449 | NR0B1 | c.937G= (p.Glu313=) c.52G= (p.Glu18=) | |
| X | g.30308427C>G | CA412547237 | NR0B1 | c.937G>C (p.Glu313Gln) c.52G>C (p.Glu18Gln) | |
| X | g.30308427C>T | CA10376336 | NR0B1 | c.937G>A (p.Glu313Lys) c.52G>A (p.Glu18Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308428C>A | CA515946154 | NR0B1 | c.936G>T (p.Ser312=) c.51G>T (p.Ser17=) | |
| X | g.30308428C= | CA2422040450 | NR0B1 | c.936G= (p.Ser312=) c.51G= (p.Ser17=) | |
| X | g.30308428C>G | CA515946156 | NR0B1 | c.936G>C (p.Ser312=) c.51G>C (p.Ser17=) | |
| X | g.30308428C>T | CA10376337 | NR0B1 | c.936G>A (p.Ser312=) c.51G>A (p.Ser17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.30308429del | CA2695232180 | NR0B1 | c.935del (p.Ser312TrpfsTer?) c.50del (p.Ser17TrpfsTer?) | |
| X | g.30308429G>A | CA10376339 | NR0B1 | c.935C>T (p.Ser312Leu) c.50C>T (p.Ser17Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308429G>C | CA10376338 | NR0B1 | c.935C>G (p.Ser312Trp) c.50C>G (p.Ser17Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308429G= | CA2422040451 | NR0B1 | c.935C= (p.Ser312=) c.50C= (p.Ser17=) | |
| X | g.30308429G>T | CA412547238 | NR0B1 | c.935C>A (p.Ser312Ter) c.50C>A (p.Ser17Ter) | |
| X | g.30308430A>C | CA412547239 | NR0B1 | c.934T>G (p.Ser312Ala) c.49T>G (p.Ser17Ala) | |
| X | g.30308430A>G | CA412547240 | NR0B1 | c.934T>C (p.Ser312Pro) c.49T>C (p.Ser17Pro) | |
| X | g.30308430A>T | CA412547241 | NR0B1 | c.934T>A (p.Ser312Thr) c.49T>A (p.Ser17Thr) | |
| X | g.30308431G>A | CA515946161 | NR0B1 | c.933C>T (p.Val311=) c.48C>T (p.Val16=) | |
| X | g.30308431G>C | CA515946163 | NR0B1 | c.933C>G (p.Val311=) c.48C>G (p.Val16=) | |
| X | g.30308431G= | CA2422040452 | NR0B1 | c.933C= (p.Val311=) c.48C= (p.Val16=) | |
| X | g.30308431G>T | CA10376340 | NR0B1 | c.933C>A (p.Val311=) c.48C>A (p.Val16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308432A= | CA2422040453 | NR0B1 | c.932T= (p.Val311=) c.47T= (p.Val16=) | |
| X | g.30308432A>C | CA412547242 | NR0B1 | c.932T>G (p.Val311Gly) c.47T>G (p.Val16Gly) | |
| X | g.30308432A>G | CA412547244 | NR0B1 | c.932T>C (p.Val311Ala) c.47T>C (p.Val16Ala) | dbSNP gnomAD v4 |
| X | g.30308432A>T | CA412547243 | NR0B1 | c.932T>A (p.Val311Asp) c.47T>A (p.Val16Asp) | |
| X | g.30308433C>A | CA412547245 | NR0B1 | c.931G>T (p.Val311Phe) c.46G>T (p.Val16Phe) | |
| X | g.30308433C= | CA2422040454 | NR0B1 | c.931G= (p.Val311=) c.46G= (p.Val16=) | |
| X | g.30308433C>G | CA412547246 | NR0B1 | c.931G>C (p.Val311Leu) c.46G>C (p.Val16Leu) | |
| X | g.30308433C>T | CA412547247 | NR0B1 | c.931G>A (p.Val311Ile) c.46G>A (p.Val16Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308434T>A | CA412547248 | NR0B1 | c.930A>T (p.Glu310Asp) c.45A>T (p.Glu15Asp) | |
| X | g.30308434T>C | CA515946168 | NR0B1 | c.930A>G (p.Glu310=) c.45A>G (p.Glu15=) | |
| X | g.30308434T>G | CA412547250 | NR0B1 | c.930A>C (p.Glu310Asp) c.45A>C (p.Glu15Asp) | |
| X | g.30308435T>A | CA412547251 | NR0B1 | c.929A>T (p.Glu310Val) c.44A>T (p.Glu15Val) | |
| X | g.30308435T>C | CA412547252 | NR0B1 | c.929A>G (p.Glu310Gly) c.44A>G (p.Glu15Gly) | gnomAD v4 |
| X | g.30308435T>G | CA412547253 | NR0B1 | c.929A>C (p.Glu310Ala) c.44A>C (p.Glu15Ala) | gnomAD v4 |
| X | g.30308436C>A | CA412547254 | NR0B1 | c.928G>T (p.Glu310Ter) c.43G>T (p.Glu15Ter) | gnomAD v4 |
| X | g.30308436C>G | CA412547255 | NR0B1 | c.928G>C (p.Glu310Gln) c.43G>C (p.Glu15Gln) | |
| X | g.30308436C>T | CA412547256 | NR0B1 | c.928G>A (p.Glu310Lys) c.43G>A (p.Glu15Lys) | gnomAD v4 |
| X | g.30308436_30308438delinsCCA | CA2422040455 | NR0B1 | c.926_928delinsTGG (p.Val309=) c.41_43delinsTGG (p.Val14=) | |
| X | g.30308437C>A | CA515946173 | NR0B1 | c.927G>T (p.Val309=) c.42G>T (p.Val14=) | gnomAD v4 |
| X | g.30308437C>G | CA515946174 | NR0B1 | c.927G>C (p.Val309=) c.42G>C (p.Val14=) | gnomAD v4 |
| X | g.30308437C>T | CA515946175 | NR0B1 | c.927G>A (p.Val309=) c.42G>A (p.Val14=) | |
| X | g.30308439_30308440del | CA1132011861 | NR0B1 | c.926_927del (p.Val309GlyfsTer?) c.41_42del (p.Val14GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308438A>C | CA412547258 | NR0B1 | c.926T>G (p.Val309Gly) c.41T>G (p.Val14Gly) | |
| X | g.30308438A>G | CA412547259 | NR0B1 | c.926T>C (p.Val309Ala) c.41T>C (p.Val14Ala) | |
| X | g.30308438A>T | CA412547257 | NR0B1 | c.926T>A (p.Val309Glu) c.41T>A (p.Val14Glu) | |
| X | g.30308439C>A | CA412547261 | NR0B1 | c.925G>T (p.Val309Leu) c.40G>T (p.Val14Leu) | |
| X | g.30308439C= | CA2422040456 | NR0B1 | c.925G= (p.Val309=) c.40G= (p.Val14=) | |
| X | g.30308439C>G | CA412547260 | NR0B1 | c.925G>C (p.Val309Leu) c.40G>C (p.Val14Leu) | dbSNP |
| X | g.30308439C>T | CA412547262 | NR0B1 | c.925G>A (p.Val309Met) c.40G>A (p.Val14Met) | |
| X | g.30308440A= | CA2422040457 | NR0B1 | c.924T= (p.Thr308=) c.39T= (p.Thr13=) | |
| X | g.30308440A>C | CA515946181 | NR0B1 | c.924T>G (p.Thr308=) c.39T>G (p.Thr13=) | dbSNP |
| X | g.30308440A>G | CA515946178 | NR0B1 | c.924T>C (p.Thr308=) c.39T>C (p.Thr13=) | |
| X | g.30308440A>T | CA515946180 | NR0B1 | c.924T>A (p.Thr308=) c.39T>A (p.Thr13=) | |
| X | g.30308441G>A | CA412547263 | NR0B1 | c.923C>T (p.Thr308Ile) c.38C>T (p.Thr13Ile) | |
| X | g.30308441G>C | CA412547264 | NR0B1 | c.923C>G (p.Thr308Ser) c.38C>G (p.Thr13Ser) | |
| X | g.30308441G>T | CA412547266 | NR0B1 | c.923C>A (p.Thr308Asn) c.38C>A (p.Thr13Asn) | gnomAD v4 |
| X | g.30308442T>A | CA412547268 | NR0B1 | c.922A>T (p.Thr308Ser) c.37A>T (p.Thr13Ser) | |
| X | g.30308442T>C | CA412547269 | NR0B1 | c.922A>G (p.Thr308Ala) c.37A>G (p.Thr13Ala) | gnomAD v4 COSMIC COSMIC |
| X | g.30308442T>G | CA412547271 | NR0B1 | c.922A>C (p.Thr308Pro) c.37A>C (p.Thr13Pro) | |
| X | g.30308443C>A | CA412547273 | NR0B1 | c.921G>T (p.Glu307Asp) c.36G>T (p.Glu12Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308443C= | CA2422040458 | NR0B1 | c.921G= (p.Glu307=) c.36G= (p.Glu12=) | |
| X | g.30308443C>G | CA412547275 | NR0B1 | c.921G>C (p.Glu307Asp) c.36G>C (p.Glu12Asp) | |
| X | g.30308443C>T | CA515946185 | NR0B1 | c.921G>A (p.Glu307=) c.36G>A (p.Glu12=) | |
| X | g.30308444T>A | CA412547276 | NR0B1 | c.920A>T (p.Glu307Val) c.35A>T (p.Glu12Val) | |
| X | g.30308444T>C | CA412547277 | NR0B1 | c.920A>G (p.Glu307Gly) c.35A>G (p.Glu12Gly) | |
| X | g.30308444T>G | CA412547278 | NR0B1 | c.920A>C (p.Glu307Ala) c.35A>C (p.Glu12Ala) | |
| X | g.30308445C>A | CA412547279 | NR0B1 | c.919G>T (p.Glu307Ter) c.34G>T (p.Glu12Ter) | ClinVar dbSNP |
| X | g.30308445C= | CA2422040459 | NR0B1 | c.919G= (p.Glu307=) c.34G= (p.Glu12=) | |
| X | g.30308445C>G | CA412547280 | NR0B1 | c.919G>C (p.Glu307Gln) c.34G>C (p.Glu12Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308445C>T | CA412547281 | NR0B1 | c.919G>A (p.Glu307Lys) c.34G>A (p.Glu12Lys) | |
| X | g.30308446G>A | CA515946191 | NR0B1 | c.918C>T (p.Phe306=) c.33C>T (p.Phe11=) | gnomAD v4 COSMIC COSMIC |
| X | g.30308446G>C | CA412547283 | NR0B1 | c.918C>G (p.Phe306Leu) c.33C>G (p.Phe11Leu) | |
| X | g.30308446G= | CA2422040460 | NR0B1 | c.918C= (p.Phe306=) c.33C= (p.Phe11=) | |
| X | g.30308446G>T | CA412547284 | NR0B1 | c.918C>A (p.Phe306Leu) c.33C>A (p.Phe11Leu) | dbSNP gnomAD v2 |
| X | g.30308447A>C | CA412547287 | NR0B1 | c.917T>G (p.Phe306Cys) c.32T>G (p.Phe11Cys) | |
| X | g.30308447A>G | CA412547288 | NR0B1 | c.917T>C (p.Phe306Ser) c.32T>C (p.Phe11Ser) | |
| X | g.30308447A>T | CA412547290 | NR0B1 | c.917T>A (p.Phe306Tyr) c.32T>A (p.Phe11Tyr) | |
| X | g.30308448A>C | CA412547293 | NR0B1 | c.916T>G (p.Phe306Val) c.31T>G (p.Phe11Val) | |
| X | g.30308448A>G | CA412547294 | NR0B1 | c.916T>C (p.Phe306Leu) c.31T>C (p.Phe11Leu) | |
| X | g.30308448A>T | CA412547297 | NR0B1 | c.916T>A (p.Phe306Ile) c.31T>A (p.Phe11Ile) | |
| X | g.30308449del | CA2695232181 | NR0B1 | c.915del (p.Gln305HisfsTer?) c.30del (p.Gln10HisfsTer?) | |
| X | g.30308449C>A | CA412547299 | NR0B1 | c.915G>T (p.Gln305His) c.30G>T (p.Gln10His) | gnomAD v4 |
| X | g.30308449C>G | CA412547301 | NR0B1 | c.915G>C (p.Gln305His) c.30G>C (p.Gln10His) | |
| X | g.30308449C>T | CA515946198 | NR0B1 | c.915G>A (p.Gln305=) c.30G>A (p.Gln10=) | |
| X | g.30308450T>A | CA412547303 | NR0B1 | c.914A>T (p.Gln305Leu) c.29A>T (p.Gln10Leu) | |
| X | g.30308450T>C | CA412547305 | NR0B1 | c.914A>G (p.Gln305Arg) c.29A>G (p.Gln10Arg) | |
| X | g.30308450T>G | CA412547307 | NR0B1 | c.914A>C (p.Gln305Pro) c.29A>C (p.Gln10Pro) | |
| X | g.30308451G>A | CA412547314 | NR0B1 | c.913C>T (p.Gln305Ter) c.28C>T (p.Gln10Ter) | |
| X | g.30308451G>C | CA412547312 | NR0B1 | c.913C>G (p.Gln305Glu) c.28C>G (p.Gln10Glu) | |
| X | g.30308451G>T | CA412547310 | NR0B1 | c.913C>A (p.Gln305Lys) c.28C>A (p.Gln10Lys) | |
| X | g.30308452C>A | CA412547317 | NR0B1 | c.912G>T (p.Leu304Phe) c.27G>T (p.Leu9Phe) | |
| X | g.30308452C= | CA2422040461 | NR0B1 | c.912G= (p.Leu304=) c.27G= (p.Leu9=) | |
| X | g.30308452C>G | CA412547319 | NR0B1 | c.912G>C (p.Leu304Phe) c.27G>C (p.Leu9Phe) | |
| X | g.30308452C>T | CA10376341 | NR0B1 | c.912G>A (p.Leu304=) c.27G>A (p.Leu9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308453A>C | CA412547323 | NR0B1 | c.911T>G (p.Leu304Trp) c.26T>G (p.Leu9Trp) | |
| X | g.30308453A>G | CA412547324 | NR0B1 | c.911T>C (p.Leu304Ser) c.26T>C (p.Leu9Ser) | gnomAD v4 |
| X | g.30308453A>T | CA412547326 | NR0B1 | c.911T>A (p.Leu304Ter) c.26T>A (p.Leu9Ter) | |
| X | g.30308454A= | CA2422040462 | NR0B1 | c.910T= (p.Leu304=) c.25T= (p.Leu9=) | |
| X | g.30308454A>C | CA412547329 | NR0B1 | c.910T>G (p.Leu304Val) c.25T>G (p.Leu9Val) | |
| X | g.30308454A>G | CA515946208 | NR0B1 | c.910T>C (p.Leu304=) c.25T>C (p.Leu9=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308454A>T | CA412547331 | NR0B1 | c.910T>A (p.Leu304Met) c.25T>A (p.Leu9Met) | |
| X | g.30308455G>A | CA515946209 | NR0B1 | c.909C>T (p.Arg303=) c.24C>T (p.Arg8=) | COSMIC COSMIC |
| X | g.30308455G>C | CA515946210 | NR0B1 | c.909C>G (p.Arg303=) c.24C>G (p.Arg8=) | |
| X | g.30308455G>T | CA515946211 | NR0B1 | c.909C>A (p.Arg303=) c.24C>A (p.Arg8=) | |
| X | g.30308456C>A | CA412547333 | NR0B1 | c.908G>T (p.Arg303Leu) c.23G>T (p.Arg8Leu) | |
| X | g.30308456C>G | CA412547334 | NR0B1 | c.908G>C (p.Arg303Pro) c.23G>C (p.Arg8Pro) | |
| X | g.30308456C>T | CA412547336 | NR0B1 | c.908G>A (p.Arg303His) c.23G>A (p.Arg8His) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.30308457G>A | CA10376342 | NR0B1 | c.907C>T (p.Arg303Cys) c.22C>T (p.Arg8Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308457G>C | CA412547339 | NR0B1 | c.907C>G (p.Arg303Gly) c.22C>G (p.Arg8Gly) | |
| X | g.30308457G= | CA2422040463 | NR0B1 | c.907C= (p.Arg303=) c.22C= (p.Arg8=) | |
| X | g.30308457G>T | CA412547341 | NR0B1 | c.907C>A (p.Arg303Ser) c.22C>A (p.Arg8Ser) | |
| X | g.30308458G>A | CA515946214 | NR0B1 | c.906C>T (p.Asp302=) c.21C>T (p.Asp7=) | gnomAD v4 |
| X | g.30308458G>C | CA412547344 | NR0B1 | c.906C>G (p.Asp302Glu) c.21C>G (p.Asp7Glu) | |
| X | g.30308458G>T | CA412547345 | NR0B1 | c.906C>A (p.Asp302Glu) c.21C>A (p.Asp7Glu) | |
| X | g.30308459T>A | CA412547349 | NR0B1 | c.905A>T (p.Asp302Val) c.20A>T (p.Asp7Val) | |
| X | g.30308459T>C | CA412547351 | NR0B1 | c.905A>G (p.Asp302Gly) c.20A>G (p.Asp7Gly) | |
| X | g.30308459T>G | CA412547353 | NR0B1 | c.905A>C (p.Asp302Ala) c.20A>C (p.Asp7Ala) | |
| X | g.30308460C>A | CA412547355 | NR0B1 | c.904G>T (p.Asp302Tyr) c.19G>T (p.Asp7Tyr) | gnomAD v4 |
| X | g.30308460C>G | CA412547356 | NR0B1 | c.904G>C (p.Asp302His) c.19G>C (p.Asp7His) | |
| X | g.30308460C>T | CA412547357 | NR0B1 | c.904G>A (p.Asp302Asn) c.19G>A (p.Asp7Asn) | |
| X | g.30308461C>A | CA412547360 | NR0B1 | c.903G>T (p.Gln301His) c.18G>T (p.Gln6His) | gnomAD v4 |
| X | g.30308461C= | CA2422040464 | NR0B1 | c.903G= (p.Gln301=) c.18G= (p.Gln6=) | |
| X | g.30308461C>G | CA412547362 | NR0B1 | c.903G>C (p.Gln301His) c.18G>C (p.Gln6His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308461C>T | CA515946220 | NR0B1 | c.903G>A (p.Gln301=) c.18G>A (p.Gln6=) | |
| X | g.30308462T>A | CA412547365 | NR0B1 | c.902A>T (p.Gln301Leu) c.17A>T (p.Gln6Leu) | COSMIC COSMIC |
| X | g.30308462T>C | CA412547366 | NR0B1 | c.902A>G (p.Gln301Arg) c.17A>G (p.Gln6Arg) | |
| X | g.30308462T>G | CA412547367 | NR0B1 | c.902A>C (p.Gln301Pro) c.17A>C (p.Gln6Pro) | |
| X | g.30308463G>A | CA412547374 | NR0B1 | c.901C>T (p.Gln301Ter) c.16C>T (p.Gln6Ter) | ClinVar dbSNP |
| X | g.30308463G>C | CA412547372 | NR0B1 | c.901C>G (p.Gln301Glu) c.16C>G (p.Gln6Glu) | |
| X | g.30308463G= | CA2422040465 | NR0B1 | c.901C= (p.Gln301=) c.16C= (p.Gln6=) | |
| X | g.30308463G>T | CA412547370 | NR0B1 | c.901C>A (p.Gln301Lys) c.16C>A (p.Gln6Lys) | dbSNP gnomAD v4 |
| X | g.30308464G>A | CA515946226 | NR0B1 | c.900C>T (p.Ala300=) c.15C>T (p.Ala5=) | |
| X | g.30308464G>C | CA515946227 | NR0B1 | c.900C>G (p.Ala300=) c.15C>G (p.Ala5=) | gnomAD v4 |
| X | g.30308464G>T | CA515946228 | NR0B1 | c.900C>A (p.Ala300=) c.15C>A (p.Ala5=) | |
| X | g.30308465G>A | CA412547377 | NR0B1 | c.899C>T (p.Ala300Val) c.14C>T (p.Ala5Val) | ClinVar |
| X | g.30308465G>C | CA412547379 | NR0B1 | c.899C>G (p.Ala300Gly) c.14C>G (p.Ala5Gly) | |
| X | g.30308465G>T | CA412547378 | NR0B1 | c.899C>A (p.Ala300Asp) c.14C>A (p.Ala5Asp) | |
| X | g.30308466C>A | CA412547380 | NR0B1 | c.898G>T (p.Ala300Ser) c.13G>T (p.Ala5Ser) | |
| X | g.30308466C>G | CA412547382 | NR0B1 | c.898G>C (p.Ala300Pro) c.13G>C (p.Ala5Pro) | |
| X | g.30308466C>T | CA412547384 | NR0B1 | c.898G>A (p.Ala300Thr) c.13G>A (p.Ala5Thr) | |
| X | g.30308467C>A | CA515946230 | NR0B1 | c.897G>T (p.Leu299=) c.12G>T (p.Leu4=) | gnomAD v4 |
| X | g.30308467C>G | CA515946232 | NR0B1 | c.897G>C (p.Leu299=) c.12G>C (p.Leu4=) | |
| X | g.30308467C>T | CA515946231 | NR0B1 | c.897G>A (p.Leu299=) c.12G>A (p.Leu4=) | ClinVar gnomAD v4 |
| X | g.30308468A>C | CA412547386 | NR0B1 | c.896T>G (p.Leu299Arg) c.11T>G (p.Leu4Arg) | |
| X | g.30308468A>G | CA412547388 | NR0B1 | c.896T>C (p.Leu299Pro) c.11T>C (p.Leu4Pro) | |
| X | g.30308468A>T | CA412547390 | NR0B1 | c.896T>A (p.Leu299Gln) c.11T>A (p.Leu4Gln) | |
| X | g.30308468_30308469dup | CA2695232182 | NR0B1 | c.895_896dup (p.Ala300TrpfsTer?) c.10_11dup (p.Ala5TrpfsTer?) | |
| X | g.30308469G>A | CA515946235 | NR0B1 | c.895C>T (p.Leu299=) c.10C>T (p.Leu4=) | gnomAD v4 |
| X | g.30308469G>C | CA412547391 | NR0B1 | c.895C>G (p.Leu299Val) c.10C>G (p.Leu4Val) | |
| X | g.30308469G>T | CA412547392 | NR0B1 | c.895C>A (p.Leu299Met) c.10C>A (p.Leu4Met) | |
| X | g.30308470C>A | CA412547394 | NR0B1 | c.894G>T (p.Glu298Asp) c.9G>T (p.Glu3Asp) | gnomAD v4 |
| X | g.30308470C= | CA2422040466 | NR0B1 | c.894G= (p.Glu298=) c.9G= (p.Glu3=) | |
| X | g.30308470C>G | CA412547396 | NR0B1 | c.894G>C (p.Glu298Asp) c.9G>C (p.Glu3Asp) | |
| X | g.30308470C>T | CA515946239 | NR0B1 | c.894G>A (p.Glu298=) c.9G>A (p.Glu3=) | dbSNP gnomAD v2 |
| X | g.30308471T>A | CA412547398 | NR0B1 | c.893A>T (p.Glu298Val) c.8A>T (p.Glu3Val) | |
| X | g.30308471T>C | CA412547400 | NR0B1 | c.893A>G (p.Glu298Gly) c.8A>G (p.Glu3Gly) | |
| X | g.30308471T>G | CA412547403 | NR0B1 | c.893A>C (p.Glu298Ala) c.8A>C (p.Glu3Ala) | |
| X | g.30308472C>A | CA412547405 | NR0B1 | c.892G>T (p.Glu298Ter) c.7G>T (p.Glu3Ter) | |
| X | g.30308472C>G | CA412547409 | NR0B1 | c.892G>C (p.Glu298Gln) c.7G>C (p.Glu3Gln) | |
| X | g.30308472C>T | CA412547407 | NR0B1 | c.892G>A (p.Glu298Lys) c.7G>A (p.Glu3Lys) | gnomAD v4 |
| X | g.30308473A= | CA2422040467 | NR0B1 | c.891T= (p.Leu297=) c.6T= (p.Leu2=) | |
| X | g.30308473A>C | CA515946244 | NR0B1 | c.891T>G (p.Leu297=) c.6T>G (p.Leu2=) | |
| X | g.30308473A>G | CA10376343 | NR0B1 | c.891T>C (p.Leu297=) c.6T>C (p.Leu2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308473A>T | CA515946247 | NR0B1 | c.891T>A (p.Leu297=) c.6T>A (p.Leu2=) | |
| X | g.30308474A= | CA2422040468 | NR0B1 | c.890T= (p.Leu297=) c.5T= (p.Leu2=) | |
| X | g.30308474A>C | CA412547413 | NR0B1 | c.890T>G (p.Leu297Arg) c.5T>G (p.Leu2Arg) | |
| X | g.30308474A>G | CA255642 | NR0B1 | c.890T>C (p.Leu297Pro) c.5T>C (p.Leu2Pro) | ClinVar dbSNP |
| X | g.30308474A>T | CA412547414 | NR0B1 | c.890T>A (p.Leu297His) c.5T>A (p.Leu2His) | |
| X | g.30308475G>A | CA412547417 | NR0B1 | c.889C>T (p.Leu297Phe) c.4C>T (p.Leu2Phe) | gnomAD v4 |
| X | g.30308475G>C | CA412547419 | NR0B1 | c.889C>G (p.Leu297Val) c.4C>G (p.Leu2Val) | gnomAD v4 |
| X | g.30308475G>T | CA412547421 | NR0B1 | c.889C>A (p.Leu297Ile) c.4C>A (p.Leu2Ile) | |
| X | g.30308476C>A | CA412547424 | NR0B1 | c.888G>T (p.Met296Ile) c.3G>T (p.Met1Ile) | |
| X | g.30308476C>G | CA412547426 | NR0B1 | c.888G>C (p.Met296Ile) c.3G>C (p.Met1Ile) | |
| X | g.30308476C>T | CA412547427 | NR0B1 | c.888G>A (p.Met296Ile) c.3G>A (p.Met1Ile) | |
| X | g.30308477A>C | CA412547432 | NR0B1 | c.887T>G (p.Met296Arg) c.2T>G (p.Met1Arg) | |
| X | g.30308477A>G | CA412547431 | NR0B1 | c.887T>C (p.Met296Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
| X | g.30308477A>T | CA412547430 | NR0B1 | c.887T>A (p.Met296Lys) c.2T>A (p.Met1Lys) | |
| X | g.30308478T>A | CA412547435 | NR0B1 | c.886A>T (p.Met296Leu) c.1A>T (p.Met1Leu) | |
| X | g.30308478T>C | CA412547437 | NR0B1 | c.886A>G (p.Met296Val) c.1A>G (p.Met1Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308478T>G | CA412547439 | NR0B1 | c.886A>C (p.Met296Leu) c.1A>C (p.Met1Leu) | gnomAD v4 |
| X | g.30308478T= | CA2422040469 | NR0B1 | c.886A= (p.Met296=) c.1A= (p.Met1=) | |
| X | g.30308479G>A | CA515946257 | NR0B1 | c.885C>T (p.Leu295=) c.-1C>T (n.-1C>T) | ClinVar gnomAD v4 |
| X | g.30308479G>C | CA515946259 | NR0B1 | c.885C>G (p.Leu295=) c.-1C>G (n.-1C>G) | |
| X | g.30308479G>T | CA515946260 | NR0B1 | c.885C>A (p.Leu295=) c.-1C>A (n.-1C>A) | |
| X | g.30308480A>C | CA412547442 | NR0B1 | c.884T>G (p.Leu295Arg) c.-2T>G (n.-2T>G) | |
| X | g.30308480A>G | CA412547443 | NR0B1 | c.884T>C (p.Leu295Pro) c.-2T>C (n.-2T>C) | |
| X | g.30308480A>T | CA412547446 | NR0B1 | c.884T>A (p.Leu295His) c.-2T>A (n.-2T>A) | |
| X | g.30308484_30308534del | CA2695232183 | NR0B1 | c.834_884del (p.Pro279_Leu295del) | |
| X | g.30308481G>A | CA412547453 | NR0B1 | c.883C>T (p.Leu295Phe) c.-3C>T (n.-3C>T) | gnomAD v4 |
| X | g.30308481G>C | CA412547450 | NR0B1 | c.883C>G (p.Leu295Val) c.-3C>G (n.-3C>G) | |
| X | g.30308481G>T | CA412547452 | NR0B1 | c.883C>A (p.Leu295Ile) c.-3C>A (n.-3C>A) | gnomAD v4 |
| X | g.30308482C>A | CA515946270 | NR0B1 | c.882G>T (p.Leu294=) c.-4G>T (n.-4G>T) | |
| X | g.30308482C>G | CA515946271 | NR0B1 | c.882G>C (p.Leu294=) c.-4G>C (n.-4G>C) | |
| X | g.30308482C>T | CA515946273 | NR0B1 | c.882G>A (p.Leu294=) c.-4G>A (n.-4G>A) | |
| X | g.30308483A>C | CA412547456 | NR0B1 | c.881T>G (p.Leu294Arg) c.-5T>G (n.-5T>G) | |
| X | g.30308483A>G | CA412547458 | NR0B1 | c.881T>C (p.Leu294Pro) c.-5T>C (n.-5T>C) | ClinVar dbSNP |
| X | g.30308483A>T | CA412547461 | NR0B1 | c.881T>A (p.Leu294Gln) c.-5T>A (n.-5T>A) | |
| X | g.30308484G>A | CA515946276 | NR0B1 | c.880C>T (p.Leu294=) c.-6C>T (n.-6C>T) | |
| X | g.30308484G>C | CA412547464 | NR0B1 | c.880C>G (p.Leu294Val) c.-6C>G (n.-6C>G) | |
| X | g.30308484G>T | CA412547466 | NR0B1 | c.880C>A (p.Leu294Met) c.-6C>A (n.-6C>A) | gnomAD v4 |
| X | g.30308485G>A | CA515946281 | NR0B1 | c.879C>T (p.Ser293=) c.-7C>T (n.-7C>T) | |
| X | g.30308485G>C | CA515946282 | NR0B1 | c.879C>G (p.Ser293=) c.-7C>G (n.-7C>G) | |
| X | g.30308485G>T | CA515946283 | NR0B1 | c.879C>A (p.Ser293=) c.-7C>A (n.-7C>A) | |
| X | g.30308486G>A | CA412547468 | NR0B1 | c.878C>T (p.Ser293Phe) c.-8C>T (n.-8C>T) | |
| X | g.30308486G>C | CA412547472 | NR0B1 | c.878C>G (p.Ser293Cys) c.-8C>G (n.-8C>G) | |
| X | g.30308486G>T | CA412547470 | NR0B1 | c.878C>A (p.Ser293Tyr) c.-8C>A (n.-8C>A) | |
| X | g.30308487A>C | CA412547474 | NR0B1 | c.877T>G (p.Ser293Ala) c.-9T>G (n.-9T>G) | |
| X | g.30308487A>G | CA412547475 | NR0B1 | c.877T>C (p.Ser293Pro) c.-9T>C (n.-9T>C) | |
| X | g.30308487A>T | CA412547477 | NR0B1 | c.877T>A (p.Ser293Thr) c.-9T>A (n.-9T>A) | |
| X | g.30308488C>A | CA515946289 | NR0B1 | c.876G>T (p.Ala292=) c.-10G>T (n.-10G>T) | |
| X | g.30308488C>G | CA515946286 | NR0B1 | c.876G>C (p.Ala292=) c.-10G>C (n.-10G>C) | |
| X | g.30308488C>T | CA515946284 | NR0B1 | c.876G>A (p.Ala292=) c.-10G>A (n.-10G>A) | |
| X | g.30308489G>A | CA412547478 | NR0B1 | c.875C>T (p.Ala292Val) | gnomAD v4 |
| X | g.30308489G>C | CA412547479 | NR0B1 | c.875C>G (p.Ala292Gly) | |
| X | g.30308489G>T | CA412547481 | NR0B1 | c.875C>A (p.Ala292Glu) | |
| X | g.30308490C>A | CA412547483 | NR0B1 | c.874G>T (p.Ala292Ser) | dbSNP gnomAD v4 |
| X | g.30308490C= | CA2422040470 | NR0B1 | c.874G= (p.Ala292=) | |
| X | g.30308490C>G | CA412547484 | NR0B1 | c.874G>C (p.Ala292Pro) | |
| X | g.30308490C>T | CA412547485 | NR0B1 | c.874G>A (p.Ala292Thr) | |
| X | g.30308492del | CA2695232184 | NR0B1 | c.874del (p.Ala292ArgfsTer?) | |
| X | g.30308491C>A | CA412547486 | NR0B1 | c.873G>T (p.Trp291Cys) | COSMIC |
| X | g.30308491C= | CA2422040471 | NR0B1 | c.873G= (p.Trp291=) | |
| X | g.30308491C>G | CA255634 | NR0B1 | c.873G>C (p.Trp291Cys) | ClinVar dbSNP |
| X | g.30308491C>T | CA412547488 | NR0B1 | c.873G>A (p.Trp291Ter) | |
| X | g.30308492C>A | CA412547496 | NR0B1 | c.872G>T (p.Trp291Leu) | |
| X | g.30308492C= | CA2422040472 | NR0B1 | c.872G= (p.Trp291=) | |
| X | g.30308492C>G | CA412547493 | NR0B1 | c.872G>C (p.Trp291Ser) | ClinVar dbSNP |
| X | g.30308492C>T | CA412547491 | NR0B1 | c.872G>A (p.Trp291Ter) | dbSNP gnomAD v2 |
| X | g.30308493A= | CA2422040473 | NR0B1 | c.871T= (p.Trp291=) | |
| X | g.30308493A>C | CA412547501 | NR0B1 | c.871T>G (p.Trp291Gly) | |
| X | g.30308493A>G | CA412547499 | NR0B1 | c.871T>C (p.Trp291Arg) | ClinVar dbSNP |
| X | g.30308493A>T | CA412547502 | NR0B1 | c.871T>A (p.Trp291Arg) | |
| X | g.30308493_30308497del | CA2693386446 | NR0B1 | c.867_871del (p.Asn289LysfsTer8) | gnomAD v4 |
| X | g.30308494G>A | CA10376344 | NR0B1 | c.870C>T (p.Cys290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308494G>C | CA412547508 | NR0B1 | c.870C>G (p.Cys290Trp) | |
| X | g.30308494G= | CA2422040474 | NR0B1 | c.870C= (p.Cys290=) | |
| X | g.30308494G>T | CA412547506 | NR0B1 | c.870C>A (p.Cys290Ter) | gnomAD v4 |
| X | g.30308495C>A | CA412547510 | NR0B1 | c.869G>T (p.Cys290Phe) | gnomAD v4 |
| X | g.30308495C>G | CA412547514 | NR0B1 | c.869G>C (p.Cys290Ser) | |
| X | g.30308495C>T | CA412547512 | NR0B1 | c.869G>A (p.Cys290Tyr) | |
| X | g.30308496A>C | CA412547517 | NR0B1 | c.868T>G (p.Cys290Gly) | |
| X | g.30308496A>G | CA412547519 | NR0B1 | c.868T>C (p.Cys290Arg) | |
| X | g.30308496A>T | CA412547521 | NR0B1 | c.868T>A (p.Cys290Ser) | |
| X | g.30308497G>A | CA515946303 | NR0B1 | c.867C>T (p.Asn289=) | |
| X | g.30308497G>C | CA412547523 | NR0B1 | c.867C>G (p.Asn289Lys) | |
| X | g.30308497G>T | CA412547525 | NR0B1 | c.867C>A (p.Asn289Lys) | |
| X | g.30308498T>A | CA412547535 | NR0B1 | c.866A>T (p.Asn289Ile) | |
| X | g.30308498T>C | CA412547537 | NR0B1 | c.866A>G (p.Asn289Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308498T>G | CA412547539 | NR0B1 | c.866A>C (p.Asn289Thr) | |
| X | g.30308498T= | CA2422040475 | NR0B1 | c.866A= (p.Asn289=) | |
| X | g.30308499T>A | CA412547542 | NR0B1 | c.865A>T (p.Asn289Tyr) | |
| X | g.30308499T>C | CA412547544 | NR0B1 | c.865A>G (p.Asn289Asp) | |
| X | g.30308499T>G | CA412547546 | NR0B1 | c.865A>C (p.Asn289His) | |
| X | g.30308501_30308520del | CA2695232185 | NR0B1 | c.846_865del (p.Gln283LeufsTer9) | |
| X | g.30308500G>A | CA515946306 | NR0B1 | c.864C>T (p.Arg288=) | |
| X | g.30308500G>C | CA515946307 | NR0B1 | c.864C>G (p.Arg288=) | |
| X | g.30308500G>T | CA515946310 | NR0B1 | c.864C>A (p.Arg288=) | |
| X | g.30308501del | CA2516699388 | NR0B1 | c.863del (p.Arg288ProfsTer?) | |
| X | g.30308501C>A | CA412547551 | NR0B1 | c.863G>T (p.Arg288Leu) | |
| X | g.30308501C>G | CA412547550 | NR0B1 | c.863G>C (p.Arg288Pro) | |
| X | g.30308501C>T | CA412547548 | NR0B1 | c.863G>A (p.Arg288His) | gnomAD v4 |
| X | g.30308501_30308507delinsCGCACCA | CA2422040476 | NR0B1 | c.857_863delinsTGGTGCG (p.Leu286=) | |
| X | g.30308502G>A | CA412547553 | NR0B1 | c.862C>T (p.Arg288Cys) | gnomAD v4 |
| X | g.30308502G>C | CA412547555 | NR0B1 | c.862C>G (p.Arg288Gly) | |
| X | g.30308502G>T | CA412547557 | NR0B1 | c.862C>A (p.Arg288Ser) | |
| X | g.30308510_30308515dup | CA2695232186 | NR0B1 | c.857_862dup (p.Val287_Arg288insLeuVal) | |
| X | g.30308510_30308515del | CA913191033 | NR0B1 | c.857_862del (p.Leu286_Val287del) | ClinVar dbSNP |
| X | g.30308503C>A | CA515946311 | NR0B1 | c.861G>T (p.Val287=) | |
| X | g.30308503C>G | CA515946312 | NR0B1 | c.861G>C (p.Val287=) | |
| X | g.30308503C>T | CA515946314 | NR0B1 | c.861G>A (p.Val287=) | |
| X | g.30308503_30308515del | CA2541441514 | NR0B1 | c.849_861del (p.Gln283HisfsTer?) | |
| X | g.30308504A>C | CA412547559 | NR0B1 | c.860T>G (p.Val287Gly) | |
| X | g.30308504A>G | CA412547561 | NR0B1 | c.860T>C (p.Val287Ala) | |
| X | g.30308504A>T | CA412547563 | NR0B1 | c.860T>A (p.Val287Glu) | |
| X | g.30308505C>A | CA412547565 | NR0B1 | c.859G>T (p.Val287Leu) | |
| X | g.30308505C>G | CA412547567 | NR0B1 | c.859G>C (p.Val287Leu) | |
| X | g.30308505C>T | CA412547569 | NR0B1 | c.859G>A (p.Val287Met) | gnomAD v4 |
| X | g.30308506C>A | CA515946318 | NR0B1 | c.858G>T (p.Leu286=) | |
| X | g.30308506C= | CA2422040477 | NR0B1 | c.858G= (p.Leu286=) | |
| X | g.30308506C>G | CA515946319 | NR0B1 | c.858G>C (p.Leu286=) | |
| X | g.30308506C>T | CA515946321 | NR0B1 | c.858G>A (p.Leu286=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308507A>C | CA412547571 | NR0B1 | c.857T>G (p.Leu286Arg) | |
| X | g.30308507A>G | CA412547573 | NR0B1 | c.857T>C (p.Leu286Pro) | |
| X | g.30308507A>T | CA412547575 | NR0B1 | c.857T>A (p.Leu286Gln) | |
| X | g.30308508G>A | CA515946325 | NR0B1 | c.856C>T (p.Leu286=) | gnomAD v4 |
| X | g.30308508G>C | CA412547576 | NR0B1 | c.856C>G (p.Leu286Val) | |
| X | g.30308508G>T | CA412547578 | NR0B1 | c.856C>A (p.Leu286Met) | |
| X | g.30308509C>A | CA515946326 | NR0B1 | c.855G>T (p.Val285=) | |
| X | g.30308509C>G | CA515946327 | NR0B1 | c.855G>C (p.Val285=) | |
| X | g.30308509C>T | CA515946328 | NR0B1 | c.855G>A (p.Val285=) | |
| X | g.30308510A>C | CA412547581 | NR0B1 | c.854T>G (p.Val285Gly) | |
| X | g.30308510A>G | CA412547582 | NR0B1 | c.854T>C (p.Val285Ala) | |
| X | g.30308510A>T | CA412547584 | NR0B1 | c.854T>A (p.Val285Glu) | |
| X | g.30308511C>A | CA412547586 | NR0B1 | c.853G>T (p.Val285Leu) | |
| X | g.30308511C>G | CA412547587 | NR0B1 | c.853G>C (p.Val285Leu) | |
| X | g.30308511C>T | CA412547588 | NR0B1 | c.853G>A (p.Val285Met) | |
| X | g.30308512C>A | CA515946336 | NR0B1 | c.852G>T (p.Leu284=) | |
| X | g.30308512C>G | CA515946337 | NR0B1 | c.852G>C (p.Leu284=) | |
| X | g.30308512C>T | CA515946338 | NR0B1 | c.852G>A (p.Leu284=) | |
| X | g.30308516_30308533dup | CA2739290473 | NR0B1 | c.835_852dup (p.Leu284_Val285insProLeuAspGlnGlnLeu) | |
| X | g.30308513A>C | CA412547591 | NR0B1 | c.851T>G (p.Leu284Arg) | |
| X | g.30308513A>G | CA412547593 | NR0B1 | c.851T>C (p.Leu284Pro) | |
| X | g.30308513A>T | CA412547594 | NR0B1 | c.851T>A (p.Leu284Gln) | |
| X | g.30308514G>A | CA327975989 | NR0B1 | c.850C>T (p.Leu284=) | dbSNP gnomAD v4 |
| X | g.30308514G>C | CA412547596 | NR0B1 | c.850C>G (p.Leu284Val) | |
| X | g.30308514G= | CA2422040478 | NR0B1 | c.850C= (p.Leu284=) | |
| X | g.30308514G>T | CA412547599 | NR0B1 | c.850C>A (p.Leu284Met) | |
| X | g.30308515C>A | CA412547601 | NR0B1 | c.849G>T (p.Gln283His) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.30308515C>G | CA412547603 | NR0B1 | c.849G>C (p.Gln283His) | |
| X | g.30308515C>T | CA515946340 | NR0B1 | c.849G>A (p.Gln283=) | |
| X | g.30308515_30308516delinsGG | CA2695232187 | NR0B1 | c.848_849delinsCC (p.Gln283Pro) |