Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.124500226A= | CA1878468282 | NR5A1 | c.734T= (p.Leu245=) c.86T= (p.Leu29=) c.473T= (p.Leu158=) | |
9 | g.124500226A>C | CA374885921 | NR5A1 | c.734T>G (p.Leu245Trp) c.86T>G (p.Leu29Trp) c.473T>G (p.Leu158Trp) | |
9 | g.124500226A>G | CA374885924 | NR5A1 | c.734T>C (p.Leu245Ser) c.86T>C (p.Leu29Ser) c.473T>C (p.Leu158Ser) | dbSNP |
9 | g.124500226A>T | CA374885927 | NR5A1 | c.734T>A (p.Leu245Ter) c.86T>A (p.Leu29Ter) c.473T>A (p.Leu158Ter) | COSMIC COSMIC |
9 | g.124500227A>C | CA374885931 | NR5A1 | c.733T>G (p.Leu245Val) c.85T>G (p.Leu29Val) c.472T>G (p.Leu158Val) | |
9 | g.124500227A>G | CA467208168 | NR5A1 | c.733T>C (p.Leu245=) c.85T>C (p.Leu29=) c.472T>C (p.Leu158=) | |
9 | g.124500227A>T | CA374885930 | NR5A1 | c.733T>A (p.Leu245Met) c.85T>A (p.Leu29Met) c.472T>A (p.Leu158Met) | |
9 | g.124500228G>A | CA467208169 | NR5A1 | c.732C>T (p.Ile244=) c.84C>T (p.Ile28=) c.471C>T (p.Ile157=) | |
9 | g.124500228G>C | CA374885934 | NR5A1 | c.732C>G (p.Ile244Met) c.84C>G (p.Ile28Met) c.471C>G (p.Ile157Met) | |
9 | g.124500228G>T | CA467208170 | NR5A1 | c.732C>A (p.Ile244=) c.84C>A (p.Ile28=) c.471C>A (p.Ile157=) | COSMIC COSMIC |
9 | g.124500229_124500233dup | CA2695211082 | NR5A1 | c.728_732dup (p.Leu245AlafsTer?) c.80_84dup (p.Leu29AlafsTer?) c.467_471dup (p.Leu158AlafsTer?) | |
9 | g.124500229A>C | CA374885938 | NR5A1 | c.731T>G (p.Ile244Ser) c.83T>G (p.Ile28Ser) c.470T>G (p.Ile157Ser) | |
9 | g.124500229A>G | CA374885940 | NR5A1 | c.731T>C (p.Ile244Thr) c.83T>C (p.Ile28Thr) c.470T>C (p.Ile157Thr) | |
9 | g.124500229A>T | CA374885942 | NR5A1 | c.731T>A (p.Ile244Asn) c.83T>A (p.Ile28Asn) c.470T>A (p.Ile157Asn) | |
9 | g.124500230T>A | CA374885947 | NR5A1 | c.730A>T (p.Ile244Phe) c.82A>T (p.Ile28Phe) c.469A>T (p.Ile157Phe) | |
9 | g.124500230T>C | CA374885949 | NR5A1 | c.730A>G (p.Ile244Val) c.82A>G (p.Ile28Val) c.469A>G (p.Ile157Val) | gnomAD v4 |
9 | g.124500230T>G | CA374885952 | NR5A1 | c.730A>C (p.Ile244Leu) c.82A>C (p.Ile28Leu) c.469A>C (p.Ile157Leu) | dbSNP |
9 | g.124500230T= | CA1878468286 | NR5A1 | c.730A= (p.Ile244=) c.82A= (p.Ile28=) c.469A= (p.Ile157=) | |
9 | g.124500231G>A | CA467208173 | NR5A1 | c.729C>T (p.Arg243=) c.81C>T (p.Arg27=) c.468C>T (p.Arg156=) | |
9 | g.124500231G>C | CA467208174 | NR5A1 | c.729C>G (p.Arg243=) c.81C>G (p.Arg27=) c.468C>G (p.Arg156=) | |
9 | g.124500231G= | CA1878468291 | NR5A1 | c.729C= (p.Arg243=) c.81C= (p.Arg27=) c.468C= (p.Arg156=) | |
9 | g.124500231G>T | CA5235408 | NR5A1 | c.729C>A (p.Arg243=) c.81C>A (p.Arg27=) c.468C>A (p.Arg156=) | dbSNP ExAC gnomAD v2 |
9 | g.124500232C>A | CA374885958 | NR5A1 | c.728G>T (p.Arg243Leu) c.80G>T (p.Arg27Leu) c.467G>T (p.Arg156Leu) | gnomAD v4 |
9 | g.124500232C= | CA1878468296 | NR5A1 | c.728G= (p.Arg243=) c.80G= (p.Arg27=) c.467G= (p.Arg156=) | |
9 | g.124500232C>G | CA374885962 | NR5A1 | c.728G>C (p.Arg243Pro) c.80G>C (p.Arg27Pro) c.467G>C (p.Arg156Pro) | |
9 | g.124500232C>T | CA5235409 | NR5A1 | c.728G>A (p.Arg243His) c.80G>A (p.Arg27His) c.467G>A (p.Arg156His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.124500233G>A | CA5235410 | NR5A1 | c.727C>T (p.Arg243Cys) c.79C>T (p.Arg27Cys) c.466C>T (p.Arg156Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.124500233G>C | CA374885967 | NR5A1 | c.727C>G (p.Arg243Gly) c.79C>G (p.Arg27Gly) c.466C>G (p.Arg156Gly) | gnomAD v4 |
9 | g.124500233G= | CA1878468308 | NR5A1 | c.727C= (p.Arg243=) c.79C= (p.Arg27=) c.466C= (p.Arg156=) | |
9 | g.124500233G>T | CA374885971 | NR5A1 | c.727C>A (p.Arg243Ser) c.79C>A (p.Arg27Ser) c.466C>A (p.Arg156Ser) | dbSNP |
9 | g.124500234G>A | CA467208179 | NR5A1 | c.726C>T (p.Ala242=) c.78C>T (p.Ala26=) c.465C>T (p.Ala155=) | |
9 | g.124500234G>C | CA467208181 | NR5A1 | c.726C>G (p.Ala242=) c.78C>G (p.Ala26=) c.465C>G (p.Ala155=) | |
9 | g.124500234G>T | CA467208180 | NR5A1 | c.726C>A (p.Ala242=) c.78C>A (p.Ala26=) c.465C>A (p.Ala155=) | |
9 | g.124500235G>A | CA374885977 | NR5A1 | c.725C>T (p.Ala242Val) c.77C>T (p.Ala26Val) c.464C>T (p.Ala155Val) | dbSNP gnomAD v2 |
9 | g.124500235G>C | CA374885973 | NR5A1 | c.725C>G (p.Ala242Gly) c.77C>G (p.Ala26Gly) c.464C>G (p.Ala155Gly) | |
9 | g.124500235G= | CA1878468311 | NR5A1 | c.725C= (p.Ala242=) c.77C= (p.Ala26=) c.464C= (p.Ala155=) | |
9 | g.124500235G>T | CA374885975 | NR5A1 | c.725C>A (p.Ala242Asp) c.77C>A (p.Ala26Asp) c.464C>A (p.Ala155Asp) | gnomAD v4 |
9 | g.124500236C>A | CA374885980 | NR5A1 | c.724G>T (p.Ala242Ser) c.76G>T (p.Ala26Ser) c.463G>T (p.Ala155Ser) | |
9 | g.124500236C>G | CA374885984 | NR5A1 | c.724G>C (p.Ala242Pro) c.76G>C (p.Ala26Pro) c.463G>C (p.Ala155Pro) | |
9 | g.124500236C>T | CA374885987 | NR5A1 | c.724G>A (p.Ala242Thr) c.76G>A (p.Ala26Thr) c.463G>A (p.Ala155Thr) | |
9 | g.124500237C>A | CA467208182 | NR5A1 | c.723G>T (p.Arg241=) c.75G>T (p.Arg25=) c.462G>T (p.Arg154=) | |
9 | g.124500237C= | CA1878468317 | NR5A1 | c.723G= (p.Arg241=) c.75G= (p.Arg25=) c.462G= (p.Arg154=) | |
9 | g.124500237C>G | CA467208183 | NR5A1 | c.723G>C (p.Arg241=) c.75G>C (p.Arg25=) c.462G>C (p.Arg154=) | |
9 | g.124500237C>T | CA5235411 | NR5A1 | c.723G>A (p.Arg241=) c.75G>A (p.Arg25=) c.462G>A (p.Arg154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.124500238C>A | CA374885993 | NR5A1 | c.722G>T (p.Arg241Leu) c.74G>T (p.Arg25Leu) c.461G>T (p.Arg154Leu) | gnomAD v4 |
9 | g.124500238C= | CA1878468328 | NR5A1 | c.722G= (p.Arg241=) c.74G= (p.Arg25=) c.461G= (p.Arg154=) | |
9 | g.124500238C>G | CA374885996 | NR5A1 | c.722G>C (p.Arg241Pro) c.74G>C (p.Arg25Pro) c.461G>C (p.Arg154Pro) | |
9 | g.124500238C>T | CA5235412 | NR5A1 | c.722G>A (p.Arg241Gln) c.74G>A (p.Arg25Gln) c.461G>A (p.Arg154Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500239G>A | CA374886000 | NR5A1 | c.721C>T (p.Arg241Trp) c.73C>T (p.Arg25Trp) c.460C>T (p.Arg154Trp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.124500239G>C | CA374886002 | NR5A1 | c.721C>G (p.Arg241Gly) c.73C>G (p.Arg25Gly) c.460C>G (p.Arg154Gly) | dbSNP |