| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124500689C>A | CA374888981 | NR5A1 | c.271G>T (p.Gly91Cys) c.39+259G>T (n.39+259G>T) c.10G>T (p.Gly4Cys) | |
| 9 | g.124500689C= | CA1878469631 | NR5A1 | c.271G= (p.Gly91=) c.39+259G= (n.39+259G=) c.10G= (p.Gly4=) | |
| 9 | g.124500689C>G | CA374888983 | NR5A1 | c.271G>C (p.Gly91Arg) c.39+259G>C (n.39+259G>C) c.10G>C (p.Gly4Arg) | |
| 9 | g.124500689C>T | CA122717 | NR5A1 | c.271G>A (p.Gly91Ser) c.39+259G>A (n.39+259G>A) c.10G>A (p.Gly4Ser) | ClinVar dbSNP |
| 9 | g.124500690A>C | CA467208300 | NR5A1 | c.270T>G (p.Gly90=) c.39+258T>G (n.39+258T>G) c.9T>G (p.Gly3=) | |
| 9 | g.124500690A>G | CA467208301 | NR5A1 | c.270T>C (p.Gly90=) c.39+258T>C (n.39+258T>C) c.9T>C (p.Gly3=) | gnomAD v4 |
| 9 | g.124500690A>T | CA467208302 | NR5A1 | c.270T>A (p.Gly90=) c.39+258T>A (n.39+258T>A) c.9T>A (p.Gly3=) | |
| 9 | g.124500691C>A | CA374888989 | NR5A1 | c.269G>T (p.Gly90Val) c.39+257G>T (n.39+257G>T) c.8G>T (p.Gly3Val) | |
| 9 | g.124500691C>G | CA374888991 | NR5A1 | c.269G>C (p.Gly90Ala) c.39+257G>C (n.39+257G>C) c.8G>C (p.Gly3Ala) | ClinVar |
| 9 | g.124500691C>T | CA374888994 | NR5A1 | c.269G>A (p.Gly90Asp) c.39+257G>A (n.39+257G>A) c.8G>A (p.Gly3Asp) | |
| 9 | g.124500692C>A | CA374888999 | NR5A1 | c.268G>T (p.Gly90Cys) c.39+256G>T (n.39+256G>T) c.7G>T (p.Gly3Cys) | |
| 9 | g.124500692C>G | CA374889002 | NR5A1 | c.268G>C (p.Gly90Arg) c.39+256G>C (n.39+256G>C) c.7G>C (p.Gly3Arg) | |
| 9 | g.124500692C>T | CA374889005 | NR5A1 | c.268G>A (p.Gly90Ser) c.39+256G>A (n.39+256G>A) c.7G>A (p.Gly3Ser) | COSMIC |
| 9 | g.124500693C>A | CA374889008 | NR5A1 | c.267G>T (p.Arg89Ser) c.39+255G>T (n.39+255G>T) c.6G>T (p.Arg2Ser) | |
| 9 | g.124500693C= | CA1878469634 | NR5A1 | c.267G= (p.Arg89=) c.39+255G= (n.39+255G=) c.6G= (p.Arg2=) | |
| 9 | g.124500693C>G | CA374889010 | NR5A1 | c.267G>C (p.Arg89Ser) c.39+255G>C (n.39+255G>C) c.6G>C (p.Arg2Ser) | |
| 9 | g.124500693C>T | CA467208304 | NR5A1 | c.267G>A (p.Arg89=) c.39+255G>A (n.39+255G>A) c.6G>A (p.Arg2=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500694C>A | CA374889023 | NR5A1 | c.266G>T (p.Arg89Met) c.39+254G>T (n.39+254G>T) c.5G>T (p.Arg2Met) | |
| 9 | g.124500694C>G | CA374889021 | NR5A1 | c.266G>C (p.Arg89Thr) c.39+254G>C (n.39+254G>C) c.5G>C (p.Arg2Thr) | |
| 9 | g.124500694C>T | CA374889015 | NR5A1 | c.266G>A (p.Arg89Lys) c.39+254G>A (n.39+254G>A) c.5G>A (p.Arg2Lys) | |
| 9 | g.124500695del | CA2695211102 | NR5A1 | c.265del (p.Arg89GlyfsTer17) c.39+253del (n.39+253del) c.4del (p.Arg2GlyfsTer17) | |
| 9 | g.124500695T>A | CA374889027 | NR5A1 | c.265A>T (p.Arg89Trp) c.39+253A>T (n.39+253A>T) c.4A>T (p.Arg2Trp) | |
| 9 | g.124500695T>C | CA374889032 | NR5A1 | c.265A>G (p.Arg89Gly) c.39+253A>G (n.39+253A>G) c.4A>G (p.Arg2Gly) | |
| 9 | g.124500695T>G | CA467208305 | NR5A1 | c.265A>C (p.Arg89=) c.39+253A>C (n.39+253A>C) c.4A>C (p.Arg2=) | |
| 9 | g.124500696C>A | CA374889038 | NR5A1 | c.264G>T (p.Met88Ile) c.39+252G>T (n.39+252G>T) c.3G>T (p.Met1Ile) | |
| 9 | g.124500696C>G | CA374889041 | NR5A1 | c.264G>C (p.Met88Ile) c.39+252G>C (n.39+252G>C) c.3G>C (p.Met1Ile) | |
| 9 | g.124500696C>T | CA374889043 | NR5A1 | c.264G>A (p.Met88Ile) c.39+252G>A (n.39+252G>A) c.3G>A (p.Met1Ile) | |
| 9 | g.124500697A>C | CA374889047 | NR5A1 | c.263T>G (p.Met88Arg) c.39+251T>G (n.39+251T>G) c.2T>G (p.Met1Arg) | |
| 9 | g.124500697A>G | CA374889049 | NR5A1 | c.263T>C (p.Met88Thr) c.39+251T>C (n.39+251T>C) c.2T>C (p.Met1Thr) | ClinVar |
| 9 | g.124500697A>T | CA374889052 | NR5A1 | c.263T>A (p.Met88Lys) c.39+251T>A (n.39+251T>A) c.2T>A (p.Met1Lys) | |
| 9 | g.124500698T>A | CA374889055 | NR5A1 | c.262A>T (p.Met88Leu) c.39+250A>T (n.39+250A>T) c.1A>T (p.Met1Leu) | |
| 9 | g.124500698T>C | CA374889057 | NR5A1 | c.262A>G (p.Met88Val) c.39+250A>G (n.39+250A>G) c.1A>G (p.Met1Val) | gnomAD v4 |
| 9 | g.124500698T>G | CA374889059 | NR5A1 | c.262A>C (p.Met88Leu) c.39+250A>C (n.39+250A>C) c.1A>C (p.Met1Leu) | |
| 9 | g.124500699A>C | CA467208309 | NR5A1 | c.261T>G (p.Arg87=) c.39+249T>G (n.39+249T>G) c.-1T>G (n.-1T>G) | |
| 9 | g.124500699A>G | CA467208310 | NR5A1 | c.261T>C (p.Arg87=) c.39+249T>C (n.39+249T>C) c.-1T>C (n.-1T>C) | gnomAD v4 |
| 9 | g.124500699A>T | CA467208311 | NR5A1 | c.261T>A (p.Arg87=) c.39+249T>A (n.39+249T>A) c.-1T>A (n.-1T>A) | |
| 9 | g.124500700C>A | CA374889063 | NR5A1 | c.260G>T (p.Arg87Leu) c.39+248G>T (n.39+248G>T) c.-2G>T (n.-2G>T) | |
| 9 | g.124500700C= | CA1878469642 | NR5A1 | c.260G= (p.Arg87=) c.39+248G= (n.39+248G=) c.-2G= (n.-2G=) | |
| 9 | g.124500700C>G | CA374889067 | NR5A1 | c.260G>C (p.Arg87Pro) c.39+248G>C (n.39+248G>C) c.-2G>C (n.-2G>C) | |
| 9 | g.124500700C>T | CA374889070 | NR5A1 | c.260G>A (p.Arg87His) c.39+248G>A (n.39+248G>A) c.-2G>A (n.-2G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.124500701G>A | CA199729238 | NR5A1 | c.259C>T (p.Arg87Cys) c.39+247C>T (n.39+247C>T) c.-3C>T (n.-3C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.124500701G>C | CA374889076 | NR5A1 | c.259C>G (p.Arg87Gly) c.39+247C>G (n.39+247C>G) c.-3C>G (n.-3C>G) | |
| 9 | g.124500701G= | CA1878469646 | NR5A1 | c.259C= (p.Arg87=) c.39+247C= (n.39+247C=) c.-3C= (n.-3C=) | |
| 9 | g.124500701G>T | CA374889078 | NR5A1 | c.259C>A (p.Arg87Ser) c.39+247C>A (n.39+247C>A) c.-3C>A (n.-3C>A) | gnomAD v4 |
| 9 | g.124500702G>A | CA467208312 | NR5A1 | c.258C>T (p.Asp86=) c.39+246C>T (n.39+246C>T) c.-4C>T (n.-4C>T) | |
| 9 | g.124500702G>C | CA374889083 | NR5A1 | c.258C>G (p.Asp86Glu) c.39+246C>G (n.39+246C>G) c.-4C>G (n.-4C>G) | |
| 9 | g.124500702G>T | CA374889086 | NR5A1 | c.258C>A (p.Asp86Glu) c.39+246C>A (n.39+246C>A) c.-4C>A (n.-4C>A) | |
| 9 | g.124500703T>A | CA5235509 | NR5A1 | c.257A>T (p.Asp86Val) c.39+245A>T (n.39+245A>T) c.-5A>T (n.-5A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500703T>C | CA374889093 | NR5A1 | c.257A>G (p.Asp86Gly) c.39+245A>G (n.39+245A>G) c.-5A>G (n.-5A>G) | |
| 9 | g.124500703T>G | CA374889096 | NR5A1 | c.257A>C (p.Asp86Ala) c.39+245A>C (n.39+245A>C) c.-5A>C (n.-5A>C) |