Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.124500423_124500505delinsTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCA | CA1878468864 | NR5A1 | c.455_537delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (p.Leu152=) c.40-233_40-151delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (n.40-233_40-151delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA) c.194_276delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (p.Leu65=) | |
9 | g.124500429_124500510del | CA915947130 | NR5A1 | c.455_536del (p.Leu152HisfsTer?) c.40-233_40-152del (n.40-233_40-152del) c.194_275del (p.Leu65HisfsTer?) | ClinVar dbSNP |
9 | g.124500489A>C | CA467208094 | NR5A1 | c.471T>G (p.Pro157=) c.40-217T>G (n.40-217T>G) c.210T>G (p.Pro70=) | |
9 | g.124500489A>G | CA467208095 | NR5A1 | c.471T>C (p.Pro157=) c.40-217T>C (n.40-217T>C) c.210T>C (p.Pro70=) | |
9 | g.124500489A>T | CA467208096 | NR5A1 | c.471T>A (p.Pro157=) c.40-217T>A (n.40-217T>A) c.210T>A (p.Pro70=) | |
9 | g.124500490G>A | CA374887652 | NR5A1 | c.470C>T (p.Pro157Leu) c.40-218C>T (n.40-218C>T) c.209C>T (p.Pro70Leu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124500490G>C | CA374887655 | NR5A1 | c.470C>G (p.Pro157Arg) c.40-218C>G (n.40-218C>G) c.209C>G (p.Pro70Arg) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.124500490G= | CA1878469060 | NR5A1 | c.470C= (p.Pro157=) c.40-218C= (n.40-218C=) c.209C= (p.Pro70=) | |
9 | g.124500490G>T | CA374887660 | NR5A1 | c.470C>A (p.Pro157His) c.40-218C>A (n.40-218C>A) c.209C>A (p.Pro70His) | gnomAD v4 |
9 | g.124500491G>A | CA374887665 | NR5A1 | c.469C>T (p.Pro157Ser) c.40-219C>T (n.40-219C>T) c.208C>T (p.Pro70Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124500491G>C | CA374887668 | NR5A1 | c.469C>G (p.Pro157Ala) c.40-219C>G (n.40-219C>G) c.208C>G (p.Pro70Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.124500491G= | CA1878469068 | NR5A1 | c.469C= (p.Pro157=) c.40-219C= (n.40-219C=) c.208C= (p.Pro70=) | |
9 | g.124500491G>T | CA374887672 | NR5A1 | c.469C>A (p.Pro157Thr) c.40-219C>A (n.40-219C>A) c.208C>A (p.Pro70Thr) | |
9 | g.124500491_124500500delinsGTGGACCGGC | CA1878469071 | NR5A1 | c.460_469delinsGCCGGTCCAC (p.Ala154=) c.40-228_40-219delinsGCCGGTCCAC (n.40-228_40-219delinsGCCGGTCCAC) c.199_208delinsGCCGGTCCAC (p.Ala67=) | |
9 | g.124500492T>A | CA467208097 | NR5A1 | c.468A>T (p.Pro156=) c.40-220A>T (n.40-220A>T) c.207A>T (p.Pro69=) | |
9 | g.124500492T>C | CA467208098 | NR5A1 | c.468A>G (p.Pro156=) c.40-220A>G (n.40-220A>G) c.207A>G (p.Pro69=) | |
9 | g.124500492T>G | CA467208099 | NR5A1 | c.468A>C (p.Pro156=) c.40-220A>C (n.40-220A>C) c.207A>C (p.Pro69=) | |
9 | g.124500492_124500500del | CA590936669 | NR5A1 | c.460_468del (p.Ala154_Pro156del) c.40-228_40-220del (n.40-228_40-220del) c.199_207del (p.Ala67_Pro69del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124500493G>A | CA374887677 | NR5A1 | c.467C>T (p.Pro156Leu) c.40-221C>T (n.40-221C>T) c.206C>T (p.Pro69Leu) | gnomAD v4 |
9 | g.124500493G>C | CA374887679 | NR5A1 | c.467C>G (p.Pro156Arg) c.40-221C>G (n.40-221C>G) c.206C>G (p.Pro69Arg) | |
9 | g.124500493G>T | CA374887686 | NR5A1 | c.467C>A (p.Pro156Gln) c.40-221C>A (n.40-221C>A) c.206C>A (p.Pro69Gln) | |
9 | g.124500494G>A | CA5235459 | NR5A1 | c.466C>T (p.Pro156Ser) c.40-222C>T (n.40-222C>T) c.205C>T (p.Pro69Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.124500494G>C | CA374887692 | NR5A1 | c.466C>G (p.Pro156Ala) c.40-222C>G (n.40-222C>G) c.205C>G (p.Pro69Ala) | |
9 | g.124500494G= | CA1878469084 | NR5A1 | c.466C= (p.Pro156=) c.40-222C= (n.40-222C=) c.205C= (p.Pro69=) | |
9 | g.124500494G>T | CA374887696 | NR5A1 | c.466C>A (p.Pro156Thr) c.40-222C>A (n.40-222C>A) c.205C>A (p.Pro69Thr) | |
9 | g.124500495A>C | CA467208100 | NR5A1 | c.465T>G (p.Gly155=) c.40-223T>G (n.40-223T>G) c.204T>G (p.Gly68=) | |
9 | g.124500495A>G | CA467208101 | NR5A1 | c.465T>C (p.Gly155=) c.40-223T>C (n.40-223T>C) c.204T>C (p.Gly68=) | gnomAD v4 |
9 | g.124500495A>T | CA467208102 | NR5A1 | c.465T>A (p.Gly155=) c.40-223T>A (n.40-223T>A) c.204T>A (p.Gly68=) | |
9 | g.124500496C>A | CA374887705 | NR5A1 | c.464G>T (p.Gly155Val) c.40-224G>T (n.40-224G>T) c.203G>T (p.Gly68Val) | |
9 | g.124500496C= | CA1878469089 | NR5A1 | c.464G= (p.Gly155=) c.40-224G= (n.40-224G=) c.203G= (p.Gly68=) | |
9 | g.124500496C>G | CA374887698 | NR5A1 | c.464G>C (p.Gly155Ala) c.40-224G>C (n.40-224G>C) c.203G>C (p.Gly68Ala) | |
9 | g.124500496C>T | CA374887701 | NR5A1 | c.464G>A (p.Gly155Asp) c.40-224G>A (n.40-224G>A) c.203G>A (p.Gly68Asp) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.124500497C>A | CA5235460 | NR5A1 | c.463G>T (p.Gly155Cys) c.40-225G>T (n.40-225G>T) c.202G>T (p.Gly68Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.124500497C= | CA1878469094 | NR5A1 | c.463G= (p.Gly155=) c.40-225G= (n.40-225G=) c.202G= (p.Gly68=) | |
9 | g.124500497C>G | CA374887714 | NR5A1 | c.463G>C (p.Gly155Arg) c.40-225G>C (n.40-225G>C) c.202G>C (p.Gly68Arg) | |
9 | g.124500497C>T | CA5235461 | NR5A1 | c.463G>A (p.Gly155Ser) c.40-225G>A (n.40-225G>A) c.202G>A (p.Gly68Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.124500498G>A | CA5235462 | NR5A1 | c.462C>T (p.Ala154=) c.40-226C>T (n.40-226C>T) c.201C>T (p.Ala67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.124500498G>C | CA467208103 | NR5A1 | c.462C>G (p.Ala154=) c.40-226C>G (n.40-226C>G) c.201C>G (p.Ala67=) | gnomAD v4 COSMIC |
9 | g.124500498G= | CA1878469101 | NR5A1 | c.462C= (p.Ala154=) c.40-226C= (n.40-226C=) c.201C= (p.Ala67=) | |
9 | g.124500498G>T | CA467208104 | NR5A1 | c.462C>A (p.Ala154=) c.40-226C>A (n.40-226C>A) c.201C>A (p.Ala67=) | |
9 | g.124500499G>A | CA374887715 | NR5A1 | c.461C>T (p.Ala154Val) c.40-227C>T (n.40-227C>T) c.200C>T (p.Ala67Val) | gnomAD v4 |
9 | g.124500499G>C | CA374887718 | NR5A1 | c.461C>G (p.Ala154Gly) c.40-227C>G (n.40-227C>G) c.200C>G (p.Ala67Gly) | |
9 | g.124500499G>T | CA374887720 | NR5A1 | c.461C>A (p.Ala154Asp) c.40-227C>A (n.40-227C>A) c.200C>A (p.Ala67Asp) | |
9 | g.124500500C>A | CA374887723 | NR5A1 | c.460G>T (p.Ala154Ser) c.40-228G>T (n.40-228G>T) c.199G>T (p.Ala67Ser) | dbSNP |
9 | g.124500500C= | CA1878469105 | NR5A1 | c.460G= (p.Ala154=) c.40-228G= (n.40-228G=) c.199G= (p.Ala67=) | |
9 | g.124500500C>G | CA374887728 | NR5A1 | c.460G>C (p.Ala154Pro) c.40-228G>C (n.40-228G>C) c.199G>C (p.Ala67Pro) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.124500500C>T | CA5235463 | NR5A1 | c.460G>A (p.Ala154Thr) c.40-228G>A (n.40-228G>A) c.199G>A (p.Ala67Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500501G>A | CA5235464 | NR5A1 | c.459C>T (p.Ala153=) c.40-229C>T (n.40-229C>T) c.198C>T (p.Ala66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500501G>C | CA467208105 | NR5A1 | c.459C>G (p.Ala153=) c.40-229C>G (n.40-229C>G) c.198C>G (p.Ala66=) | dbSNP gnomAD v4 |
9 | g.124500501G= | CA1878469113 | NR5A1 | c.459C= (p.Ala153=) c.40-229C= (n.40-229C=) c.198C= (p.Ala66=) |