| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308484_30308534del | CA2695232183 | NR0B1 | c.834_884del (p.Pro279_Leu295del) | |
| X | g.30308501_30308520del | CA2695232185 | NR0B1 | c.846_865del (p.Gln283LeufsTer9) | |
| X | g.30308516_30308533dup | CA2739290473 | NR0B1 | c.835_852dup (p.Leu284_Val285insProLeuAspGlnGlnLeu) | |
| X | g.30308515_30308516delinsGG | CA2695232187 | NR0B1 | c.848_849delinsCC (p.Gln283Pro) | |
| X | g.30308516T>A | CA412547605 | NR0B1 | c.848A>T (p.Gln283Leu) | |
| X | g.30308516T>C | CA412547608 | NR0B1 | c.848A>G (p.Gln283Arg) | gnomAD v4 |
| X | g.30308516T>G | CA16609844 | NR0B1 | c.848A>C (p.Gln283Pro) | ClinVar dbSNP |
| X | g.30308516T= | CA2422040479 | NR0B1 | c.848A= (p.Gln283=) | |
| X | g.30308517G>A | CA255615 | NR0B1 | c.847C>T (p.Gln283Ter) | ClinVar dbSNP |
| X | g.30308517G>C | CA412547611 | NR0B1 | c.847C>G (p.Gln283Glu) | |
| X | g.30308517G= | CA2422040480 | NR0B1 | c.847C= (p.Gln283=) | |
| X | g.30308517G>T | CA412547614 | NR0B1 | c.847C>A (p.Gln283Lys) | |
| X | g.30308518C>A | CA412547616 | NR0B1 | c.846G>T (p.Gln282His) | gnomAD v4 |
| X | g.30308518C>G | CA412547617 | NR0B1 | c.846G>C (p.Gln282His) | |
| X | g.30308518C>T | CA515946348 | NR0B1 | c.846G>A (p.Gln282=) | gnomAD v4 |
| X | g.30308519T>A | CA412547618 | NR0B1 | c.845A>T (p.Gln282Leu) | |
| X | g.30308519T>C | CA412547619 | NR0B1 | c.845A>G (p.Gln282Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308519T>G | CA412547621 | NR0B1 | c.845A>C (p.Gln282Pro) | |
| X | g.30308519T= | CA2422040481 | NR0B1 | c.845A= (p.Gln282=) | |
| X | g.30308520G>A | CA412547624 | NR0B1 | c.844C>T (p.Gln282Ter) | ClinVar dbSNP |
| X | g.30308520G>C | CA412547625 | NR0B1 | c.844C>G (p.Gln282Glu) | dbSNP |
| X | g.30308520G= | CA2422040482 | NR0B1 | c.844C= (p.Gln282=) | |
| X | g.30308520G>T | CA412547627 | NR0B1 | c.844C>A (p.Gln282Lys) | |
| X | g.30308521G>A | CA515946356 | NR0B1 | c.843C>T (p.Asp281=) | |
| X | g.30308521G>C | CA412547631 | NR0B1 | c.843C>G (p.Asp281Glu) | |
| X | g.30308521G>T | CA412547630 | NR0B1 | c.843C>A (p.Asp281Glu) | gnomAD v4 |
| X | g.30308522T>A | CA412547635 | NR0B1 | c.842A>T (p.Asp281Val) | |
| X | g.30308522T>C | CA412547636 | NR0B1 | c.842A>G (p.Asp281Gly) | |
| X | g.30308522T>G | CA412547638 | NR0B1 | c.842A>C (p.Asp281Ala) | |
| X | g.30308523C>A | CA412547641 | NR0B1 | c.841G>T (p.Asp281Tyr) | gnomAD v4 |
| X | g.30308523C>G | CA412547643 | NR0B1 | c.841G>C (p.Asp281His) | gnomAD v4 |
| X | g.30308523C>T | CA412547645 | NR0B1 | c.841G>A (p.Asp281Asn) | COSMIC |
| X | g.30308524C>A | CA515946362 | NR0B1 | c.840G>T (p.Leu280=) | |
| X | g.30308524C>G | CA515946365 | NR0B1 | c.840G>C (p.Leu280=) | gnomAD v4 |
| X | g.30308524C>T | CA515946366 | NR0B1 | c.840G>A (p.Leu280=) | dbSNP gnomAD v4 |
| X | g.30308525del | CA2580100539 | NR0B1 | c.839del (p.Leu280ArgfsTer?) | ClinVar |
| X | g.30308525A>C | CA412547648 | NR0B1 | c.839T>G (p.Leu280Arg) | |
| X | g.30308525A>G | CA412547646 | NR0B1 | c.839T>C (p.Leu280Pro) | gnomAD v4 |
| X | g.30308525A>T | CA412547647 | NR0B1 | c.839T>A (p.Leu280Gln) | |
| X | g.30308526G>A | CA515946370 | NR0B1 | c.838C>T (p.Leu280=) | |
| X | g.30308526G>C | CA412547650 | NR0B1 | c.838C>G (p.Leu280Val) | |
| X | g.30308526G>T | CA412547652 | NR0B1 | c.838C>A (p.Leu280Met) | gnomAD v4 |
| X | g.30308529del | CA2695232188 | NR0B1 | c.838del (p.Leu280TrpfsTer?) | |
| X | g.30308527G>A | CA515946371 | NR0B1 | c.837C>T (p.Pro279=) | |
| X | g.30308527G>C | CA515946373 | NR0B1 | c.837C>G (p.Pro279=) | |
| X | g.30308527G>T | CA515946372 | NR0B1 | c.837C>A (p.Pro279=) | gnomAD v4 |
| X | g.30308528G>A | CA412547655 | NR0B1 | c.836C>T (p.Pro279Leu) | |
| X | g.30308528G>C | CA412547657 | NR0B1 | c.836C>G (p.Pro279Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308528G= | CA2422040483 | NR0B1 | c.836C= (p.Pro279=) |