Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30307936_30311263del | CA658653869 | ClinVar | ||
X | g.30308758_30308958del | CA2568781451 | NR0B1 | c.422_622del (p.Arg141_Pro207del) | |
X | g.30308752T>A | CA412548263 | NR0B1 | c.612A>T (p.Glu204Asp) | |
X | g.30308752T>C | CA515946585 | NR0B1 | c.612A>G (p.Glu204=) | |
X | g.30308752T>G | CA412548262 | NR0B1 | c.612A>C (p.Glu204Asp) | |
X | g.30308753T>A | CA412548264 | NR0B1 | c.611A>T (p.Glu204Val) | |
X | g.30308753T>C | CA412548265 | NR0B1 | c.611A>G (p.Glu204Gly) | |
X | g.30308753T>G | CA412548266 | NR0B1 | c.611A>C (p.Glu204Ala) | |
X | g.30308754C>A | CA412548267 | NR0B1 | c.610G>T (p.Glu204Ter) | gnomAD v4 |
X | g.30308754C= | CA2422040558 | NR0B1 | c.610G= (p.Glu204=) | |
X | g.30308754C>G | CA412548268 | NR0B1 | c.610G>C (p.Glu204Gln) | |
X | g.30308754C>T | CA412548269 | NR0B1 | c.610G>A (p.Glu204Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308755A>C | CA515946596 | NR0B1 | c.609T>G (p.Gly203=) | |
X | g.30308755A>G | CA515946597 | NR0B1 | c.609T>C (p.Gly203=) | gnomAD v4 |
X | g.30308755A>T | CA515946598 | NR0B1 | c.609T>A (p.Gly203=) | |
X | g.30308756C>A | CA412548270 | NR0B1 | c.608G>T (p.Gly203Val) | |
X | g.30308756C>G | CA412548271 | NR0B1 | c.608G>C (p.Gly203Ala) | |
X | g.30308756C>T | CA412548272 | NR0B1 | c.608G>A (p.Gly203Asp) | |
X | g.30308757C>A | CA412548273 | NR0B1 | c.607G>T (p.Gly203Cys) | gnomAD v4 |
X | g.30308757C= | CA2422040559 | NR0B1 | c.607G= (p.Gly203=) | |
X | g.30308757C>G | CA412548274 | NR0B1 | c.607G>C (p.Gly203Arg) | |
X | g.30308757C>T | CA412548275 | NR0B1 | c.607G>A (p.Gly203Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308758G>A | CA10376368 | NR0B1 | c.606C>T (p.Cys202=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.30308758G>C | CA412548277 | NR0B1 | c.606C>G (p.Cys202Trp) | gnomAD v4 |
X | g.30308758G= | CA2422040560 | NR0B1 | c.606C= (p.Cys202=) | |
X | g.30308758G>T | CA412548276 | NR0B1 | c.606C>A (p.Cys202Ter) | ClinVar |
X | g.30308759del | CA2695232206 | NR0B1 | c.605del (p.Cys202SerfsTer?) | |
X | g.30308759C>A | CA412548278 | NR0B1 | c.605G>T (p.Cys202Phe) | |
X | g.30308759C= | CA2422040561 | NR0B1 | c.605G= (p.Cys202=) | |
X | g.30308759C>G | CA412548279 | NR0B1 | c.605G>C (p.Cys202Ser) | gnomAD v4 |
X | g.30308759C>T | CA412548280 | NR0B1 | c.605G>A (p.Cys202Tyr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308779_30308979del | CA1132011960 | NR0B1 | c.405_605del (p.Gly136_Cys202del) | gnomAD v3 gnomAD v4 |
X | g.30308760A>C | CA412548281 | NR0B1 | c.604T>G (p.Cys202Gly) | |
X | g.30308760A>G | CA412548282 | NR0B1 | c.604T>C (p.Cys202Arg) | |
X | g.30308760A>T | CA412548283 | NR0B1 | c.604T>A (p.Cys202Ser) | |
X | g.30308763dup | CA2695232207 | NR0B1 | c.604dup (p.Cys202LeufsTer3) | |
X | g.30308763del | CA2693386450 | NR0B1 | c.604del (p.Cys202AlafsTer?) | gnomAD v4 |
X | g.30308761A>C | CA412548284 | NR0B1 | c.603T>G (p.Phe201Leu) | |
X | g.30308761A>G | CA515946617 | NR0B1 | c.603T>C (p.Phe201=) | ClinVar |
X | g.30308761A>T | CA412548285 | NR0B1 | c.603T>A (p.Phe201Leu) | |
X | g.30308762A>C | CA412548286 | NR0B1 | c.602T>G (p.Phe201Cys) | |
X | g.30308762A>G | CA412548287 | NR0B1 | c.602T>C (p.Phe201Ser) | |
X | g.30308762A>T | CA412548288 | NR0B1 | c.602T>A (p.Phe201Tyr) | |
X | g.30308763A>C | CA412548289 | NR0B1 | c.601T>G (p.Phe201Val) | gnomAD v4 |
X | g.30308763A>G | CA412548290 | NR0B1 | c.601T>C (p.Phe201Leu) | |
X | g.30308763A>T | CA412548291 | NR0B1 | c.601T>A (p.Phe201Ile) | |
X | g.30308764G>A | CA515946622 | NR0B1 | c.600C>T (p.Cys200=) | |
X | g.30308764G>C | CA10376369 | NR0B1 | c.600C>G (p.Cys200Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308764G= | CA2422040562 | NR0B1 | c.600C= (p.Cys200=) | |
X | g.30308764G>T | CA412548292 | NR0B1 | c.600C>A (p.Cys200Ter) | gnomAD v4 |