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.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.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.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=) | |
9 | g.124500501G>T | CA467208106 | NR5A1 | c.459C>A (p.Ala153=) c.40-229C>A (n.40-229C>A) c.198C>A (p.Ala66=) | gnomAD v4 |
9 | g.124500502G>A | CA374887745 | NR5A1 | c.458C>T (p.Ala153Val) c.40-230C>T (n.40-230C>T) c.197C>T (p.Ala66Val) | gnomAD v4 |
9 | g.124500502G>C | CA374887743 | NR5A1 | c.458C>G (p.Ala153Gly) c.40-230C>G (n.40-230C>G) c.197C>G (p.Ala66Gly) | |
9 | g.124500502G= | CA1878469120 | NR5A1 | c.458C= (p.Ala153=) c.40-230C= (n.40-230C=) c.197C= (p.Ala66=) | |
9 | g.124500502G>T | CA374887741 | NR5A1 | c.458C>A (p.Ala153Asp) c.40-230C>A (n.40-230C>A) c.197C>A (p.Ala66Asp) | dbSNP |
9 | g.124500503C>A | CA374887747 | NR5A1 | c.457G>T (p.Ala153Ser) c.40-231G>T (n.40-231G>T) c.196G>T (p.Ala66Ser) | gnomAD v4 |
9 | g.124500503C>G | CA374887753 | NR5A1 | c.457G>C (p.Ala153Pro) c.40-231G>C (n.40-231G>C) c.196G>C (p.Ala66Pro) | |
9 | g.124500503C>T | CA374887749 | NR5A1 | c.457G>A (p.Ala153Thr) c.40-231G>A (n.40-231G>A) c.196G>A (p.Ala66Thr) | gnomAD v4 |
9 | g.124500504C>A | CA467208107 | NR5A1 | c.456G>T (p.Leu152=) c.40-232G>T (n.40-232G>T) c.195G>T (p.Leu65=) | gnomAD v4 |
9 | g.124500504C>G | CA467208108 | NR5A1 | c.456G>C (p.Leu152=) c.40-232G>C (n.40-232G>C) c.195G>C (p.Leu65=) | gnomAD v4 |
9 | g.124500504C>T | CA467208109 | NR5A1 | c.456G>A (p.Leu152=) c.40-232G>A (n.40-232G>A) c.195G>A (p.Leu65=) | |
9 | g.124500505A= | CA1878469127 | NR5A1 | c.455T= (p.Leu152=) c.40-233T= (n.40-233T=) c.194T= (p.Leu65=) | |
9 | g.124500505A>C | CA374887754 | NR5A1 | c.455T>G (p.Leu152Arg) c.40-233T>G (n.40-233T>G) c.194T>G (p.Leu65Arg) | |
9 | g.124500505A>G | CA374887756 | NR5A1 | c.455T>C (p.Leu152Pro) c.40-233T>C (n.40-233T>C) c.194T>C (p.Leu65Pro) | dbSNP |
9 | g.124500505A>T | CA374887755 | NR5A1 | c.455T>A (p.Leu152Gln) c.40-233T>A (n.40-233T>A) c.194T>A (p.Leu65Gln) | |
9 | g.124500506G>A | CA467208110 | NR5A1 | c.454C>T (p.Leu152=) c.40-234C>T (n.40-234C>T) c.193C>T (p.Leu65=) | |
9 | g.124500506G>C | CA374887758 | NR5A1 | c.454C>G (p.Leu152Val) c.40-234C>G (n.40-234C>G) c.193C>G (p.Leu65Val) | |
9 | g.124500506G>T | CA374887759 | NR5A1 | c.454C>A (p.Leu152Met) c.40-234C>A (n.40-234C>A) c.193C>A (p.Leu65Met) | |
9 | g.124500507G>A | CA467208113 | NR5A1 | c.453C>T (p.Gly151=) c.40-235C>T (n.40-235C>T) c.192C>T (p.Gly64=) | dbSNP |
9 | g.124500507G>C | CA467208112 | NR5A1 | c.453C>G (p.Gly151=) c.40-235C>G (n.40-235C>G) c.192C>G (p.Gly64=) | |
9 | g.124500507G= | CA1878469131 | NR5A1 | c.453C= (p.Gly151=) c.40-235C= (n.40-235C=) c.192C= (p.Gly64=) |