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.30308779_30308979del | CA1132011960 | NR0B1 | c.405_605del (p.Gly136_Cys202del) | gnomAD v3 gnomAD v4 |
X | g.30308840_30308855del | CA2695232215 | NR0B1 | c.510_525del (p.Trp171ThrfsTer?) | |
X | g.30308845_30308857dup | CA2573158601 | NR0B1 | c.510_522dup (p.Ser175ValfsTer14) | ClinVar dbSNP |
X | g.30308851C>A | CA412548603 | NR0B1 | c.513G>T (p.Trp171Cys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308851C= | CA2422040618 | NR0B1 | c.513G= (p.Trp171=) | |
X | g.30308851C>G | CA412548604 | NR0B1 | c.513G>C (p.Trp171Cys) | |
X | g.30308851C>T | CA255624 | NR0B1 | c.513G>A (p.Trp171Ter) | ClinVar dbSNP |
X | g.30308852C>A | CA412548605 | NR0B1 | c.512G>T (p.Trp171Leu) | |
X | g.30308852C= | CA2422040619 | NR0B1 | c.512G= (p.Trp171=) | |
X | g.30308852C>G | CA412548606 | NR0B1 | c.512G>C (p.Trp171Ser) | |
X | g.30308852C>T | CA327976228 | NR0B1 | c.512G>A (p.Trp171Ter) | dbSNP |
X | g.30308853A>C | CA412548607 | NR0B1 | c.511T>G (p.Trp171Gly) | |
X | g.30308853A>G | CA412548608 | NR0B1 | c.511T>C (p.Trp171Arg) | |
X | g.30308853A>T | CA412548609 | NR0B1 | c.511T>A (p.Trp171Arg) | gnomAD v4 |
X | g.30308854C>A | CA515946224 | NR0B1 | c.510G>T (p.Ala170=) | |
X | g.30308854C= | CA2422040620 | NR0B1 | c.510G= (p.Ala170=) | |
X | g.30308854C>G | CA515946225 | NR0B1 | c.510G>C (p.Ala170=) | |
X | g.30308854C>T | CA10376389 | NR0B1 | c.510G>A (p.Ala170=) | ClinVar dbSNP ExAC COSMIC |
X | g.30308857_30308858dup | CA2740092088 | NR0B1 | c.509_510dup (p.Trp171ArgfsTer?) | ClinVar |
X | g.30308855G>A | CA412548611 | NR0B1 | c.509C>T (p.Ala170Val) | COSMIC COSMIC |
X | g.30308855G>C | CA10376390 | NR0B1 | c.509C>G (p.Ala170Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308855G= | CA2422040621 | NR0B1 | c.509C= (p.Ala170=) | |
X | g.30308855G>T | CA412548610 | NR0B1 | c.509C>A (p.Ala170Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308856C>A | CA412548612 | NR0B1 | c.508G>T (p.Ala170Ser) | |
X | g.30308856C= | CA2422040622 | NR0B1 | c.508G= (p.Ala170=) | |
X | g.30308856C>G | CA412548613 | NR0B1 | c.508G>C (p.Ala170Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308856C>T | CA412548614 | NR0B1 | c.508G>A (p.Ala170Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.30308857G>A | CA515946236 | NR0B1 | c.507C>T (p.Gly169=) | gnomAD v4 |
X | g.30308857G>C | CA515946237 | NR0B1 | c.507C>G (p.Gly169=) | |
X | g.30308857G>T | CA515946238 | NR0B1 | c.507C>A (p.Gly169=) | ClinVar |
X | g.30308858C>A | CA412548615 | NR0B1 | c.506G>T (p.Gly169Val) | |
X | g.30308858C= | CA2422040623 | NR0B1 | c.506G= (p.Gly169=) | |
X | g.30308858C>G | CA412548616 | NR0B1 | c.506G>C (p.Gly169Ala) | |
X | g.30308858C>T | CA412548617 | NR0B1 | c.506G>A (p.Gly169Asp) | dbSNP |
X | g.30308862dup | CA2693386451 | NR0B1 | c.506dup (p.Ala170ArgfsTer15) | gnomAD v4 |
X | g.30308859C>A | CA412548619 | NR0B1 | c.505G>T (p.Gly169Cys) | COSMIC COSMIC |
X | g.30308859C= | CA2422040624 | NR0B1 | c.505G= (p.Gly169=) | |
X | g.30308859C>G | CA412548618 | NR0B1 | c.505G>C (p.Gly169Arg) | |
X | g.30308859C>T | CA10376391 | NR0B1 | c.505G>A (p.Gly169Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308860C>A | CA515946245 | NR0B1 | c.504G>T (p.Gly168=) | |
X | g.30308860C>G | CA515946246 | NR0B1 | c.504G>C (p.Gly168=) | |
X | g.30308860C>T | CA515946248 | NR0B1 | c.504G>A (p.Gly168=) | |
X | g.30308861C>A | CA412548620 | NR0B1 | c.503G>T (p.Gly168Val) | |
X | g.30308861C>G | CA412548621 | NR0B1 | c.503G>C (p.Gly168Ala) | gnomAD v4 |
X | g.30308861C>T | CA412548622 | NR0B1 | c.503G>A (p.Gly168Glu) | |
X | g.30308862C>A | CA412548623 | NR0B1 | c.502G>T (p.Gly168Trp) | |
X | g.30308862C>G | CA412548624 | NR0B1 | c.502G>C (p.Gly168Arg) | gnomAD v4 |
X | g.30308862C>T | CA412548625 | NR0B1 | c.502G>A (p.Gly168Arg) | gnomAD v4 |