Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA | CA2580100530 | ClinVar | ||
X | g.30304561_30304935delinsTGTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCCGGCACGTCTGGAGGGAGAAAAATCTCTTTGTTATAAAACAGCTCACCACAGAGTCCTTTGCTAGCTTTTTAAAAATAGCCATTTCTGTTTCATCCCAATTAAACAAGACCCAAAGCTTC | CA2422039158 | NR0B1 | c.1169-112_*18delinsGAAGCTTTGGGTCTTGTTTAATTGGGATGAAACAGAAATGGCTATTTTTAAAAAGCTAGCAAAGGACTCTGTGGTGAGCTGTTTTATAACAAAGAGATTTTTCTCCCTCCAGACGTGCCGGGCCTGCAGTGCGTGAAGTACATTCAGGGACTCCAGTGGGGAACTCAGCAAATACTCAGTGAACACACCAGGATGACGCACCAAGGGCCCCATGACAGATTCATCGAACTTAATAGTACCCTTTTCCTGCTGAGATTCATCAATGCCAATGTCATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACAGTCAGCATGGATGATATGATGCTGGAAATGCTCTGTACAAAGATATAAAGTCATGTGGGCCACACA | |
X | g.30304562_30304935delinsCA | CA658653867 | NR0B1 | c.1169-112_*17delinsTG | ClinVar dbSNP |
X | g.30304795G>A | CA515716910 | NR0B1 | c.1197C>T (p.Tyr399=) | |
X | g.30304795G>C | CA412545636 | NR0B1 | c.1197C>G (p.Tyr399Ter) | |
X | g.30304795G= | CA2422039231 | NR0B1 | c.1197C= (p.Tyr399=) | |
X | g.30304795G>T | CA255640 | NR0B1 | c.1197C>A (p.Tyr399Ter) | ClinVar dbSNP |
X | g.30304796T>A | CA412545640 | NR0B1 | c.1196A>T (p.Tyr399Phe) | |
X | g.30304796T>C | CA412545644 | NR0B1 | c.1196A>G (p.Tyr399Cys) | ClinVar dbSNP |
X | g.30304796T>G | CA412545642 | NR0B1 | c.1196A>C (p.Tyr399Ser) | |
X | g.30304797A>C | CA412545646 | NR0B1 | c.1195T>G (p.Tyr399Asp) | |
X | g.30304797A>G | CA412545648 | NR0B1 | c.1195T>C (p.Tyr399His) | |
X | g.30304797A>T | CA412545664 | NR0B1 | c.1195T>A (p.Tyr399Asn) | |
X | g.30304798C>A | CA412545665 | NR0B1 | c.1194G>T (p.Lys398Asn) | |
X | g.30304798C= | CA2422039232 | NR0B1 | c.1194G= (p.Lys398=) | |
X | g.30304798C>G | CA412545666 | NR0B1 | c.1194G>C (p.Lys398Asn) | |
X | g.30304798C>T | CA327974249 | NR0B1 | c.1194G>A (p.Lys398=) | dbSNP |
X | g.30304799T>A | CA412545667 | NR0B1 | c.1193A>T (p.Lys398Met) | |
X | g.30304799T>C | CA412545668 | NR0B1 | c.1193A>G (p.Lys398Arg) | |
X | g.30304799T>G | CA412545669 | NR0B1 | c.1193A>C (p.Lys398Thr) | |
X | g.30304800T>A | CA412545670 | NR0B1 | c.1192A>T (p.Lys398Ter) | |
X | g.30304800T>C | CA412545671 | NR0B1 | c.1192A>G (p.Lys398Glu) | COSMIC |
X | g.30304800T>G | CA412545672 | NR0B1 | c.1192A>C (p.Lys398Gln) | |
X | g.30304801C>A | CA515716941 | NR0B1 | c.1191G>T (p.Val397=) | |
X | g.30304801C>G | CA515716943 | NR0B1 | c.1191G>C (p.Val397=) | |
X | g.30304801C>T | CA515716945 | NR0B1 | c.1191G>A (p.Val397=) | |
X | g.30304802A>C | CA412545673 | NR0B1 | c.1190T>G (p.Val397Gly) | |
X | g.30304802A>G | CA412545675 | NR0B1 | c.1190T>C (p.Val397Ala) | |
X | g.30304802A>T | CA412545674 | NR0B1 | c.1190T>A (p.Val397Glu) | |
X | g.30304803C>A | CA412545676 | NR0B1 | c.1189G>T (p.Val397Leu) | |
X | g.30304803C= | CA2422039233 | NR0B1 | c.1189G= (p.Val397=) | |
X | g.30304803C>G | CA412545679 | NR0B1 | c.1189G>C (p.Val397Leu) | |
X | g.30304803C>T | CA412545677 | NR0B1 | c.1189G>A (p.Val397Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304804G>A | CA10376280 | NR0B1 | c.1188C>T (p.Cys396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304804G>C | CA412545682 | NR0B1 | c.1188C>G (p.Cys396Trp) | |
X | g.30304804G= | CA2422039234 | NR0B1 | c.1188C= (p.Cys396=) | |
X | g.30304804G>T | CA412545684 | NR0B1 | c.1188C>A (p.Cys396Ter) | |
X | g.30304805C>A | CA412545686 | NR0B1 | c.1187G>T (p.Cys396Phe) | |
X | g.30304805C>G | CA412545688 | NR0B1 | c.1187G>C (p.Cys396Ser) | |
X | g.30304805C>T | CA412545690 | NR0B1 | c.1187G>A (p.Cys396Tyr) | |
X | g.30304806A>C | CA412545694 | NR0B1 | c.1186T>G (p.Cys396Gly) | |
X | g.30304806A>G | CA412545696 | NR0B1 | c.1186T>C (p.Cys396Arg) | |
X | g.30304806A>T | CA412545697 | NR0B1 | c.1186T>A (p.Cys396Ser) | |
X | g.30304807C>A | CA412545700 | NR0B1 | c.1185G>T (p.Gln395His) | |
X | g.30304807C>G | CA412545702 | NR0B1 | c.1185G>C (p.Gln395His) | |
X | g.30304807C>T | CA515716979 | NR0B1 | c.1185G>A (p.Gln395=) | |
X | g.30304808T>A | CA412545709 | NR0B1 | c.1184A>T (p.Gln395Leu) | |
X | g.30304808T>C | CA412545707 | NR0B1 | c.1184A>G (p.Gln395Arg) | |
X | g.30304808T>G | CA412545705 | NR0B1 | c.1184A>C (p.Gln395Pro) | |
X | g.30304809G>A | CA255629 | NR0B1 | c.1183C>T (p.Gln395Ter) | ClinVar dbSNP |