| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308410_30308417del | CA2695232177 | NR0B1 | c.947_954del (p.Met316LysfsTer?) c.62_69del (p.Met21LysfsTer?) | |
| 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 |