| 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.30304671_30304678del | CA2695232143 | NR0B1 | c.1315_1322del (p.Ile439GlnfsTer5) | |
| X | g.30304676A= | CA2422039190 | NR0B1 | c.1316T= (p.Ile439=) | |
| X | g.30304676A>C | CA255637 | NR0B1 | c.1316T>G (p.Ile439Ser) | ClinVar dbSNP |
| X | g.30304676A>G | CA412544476 | NR0B1 | c.1316T>C (p.Ile439Thr) | gnomAD v4 |
| X | g.30304676A>T | CA412544477 | NR0B1 | c.1316T>A (p.Ile439Asn) | |
| X | g.30304677T>A | CA412544478 | NR0B1 | c.1315A>T (p.Ile439Phe) | |
| X | g.30304677T>C | CA412544479 | NR0B1 | c.1315A>G (p.Ile439Val) | gnomAD v4 |
| X | g.30304677T>G | CA412544480 | NR0B1 | c.1315A>C (p.Ile439Leu) | gnomAD v4 |
| X | g.30304678G>A | CA515716054 | NR0B1 | c.1314C>T (p.Phe438=) | dbSNP |
| X | g.30304678G>C | CA412544481 | NR0B1 | c.1314C>G (p.Phe438Leu) | |
| X | g.30304678G= | CA2422039191 | NR0B1 | c.1314C= (p.Phe438=) | |
| X | g.30304678G>T | CA412544482 | NR0B1 | c.1314C>A (p.Phe438Leu) | |
| X | g.30304679A= | CA2422039192 | NR0B1 | c.1313T= (p.Phe438=) | |
| X | g.30304679A>C | CA10376263 | NR0B1 | c.1313T>G (p.Phe438Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304679A>G | CA412544483 | NR0B1 | c.1313T>C (p.Phe438Ser) | |
| X | g.30304679A>T | CA412544484 | NR0B1 | c.1313T>A (p.Phe438Tyr) | |
| X | g.30304680A>C | CA412544487 | NR0B1 | c.1312T>G (p.Phe438Val) | |
| X | g.30304680A>G | CA412544485 | NR0B1 | c.1312T>C (p.Phe438Leu) | |
| X | g.30304680A>T | CA412544486 | NR0B1 | c.1312T>A (p.Phe438Ile) | |
| X | g.30304681T>A | CA412544488 | NR0B1 | c.1311A>T (p.Arg437Ser) | |
| X | g.30304681T>C | CA10376264 | NR0B1 | c.1311A>G (p.Arg437=) | dbSNP ExAC gnomAD v2 |
| X | g.30304681T>G | CA412544489 | NR0B1 | c.1311A>C (p.Arg437Ser) | |
| X | g.30304681T= | CA2422039193 | NR0B1 | c.1311A= (p.Arg437=) | |
| X | g.30304682C>A | CA412544490 | NR0B1 | c.1310G>T (p.Arg437Ile) | |
| X | g.30304682C= | CA2422039194 | NR0B1 | c.1310G= (p.Arg437=) | |
| X | g.30304682C>G | CA10376265 | NR0B1 | c.1310G>C (p.Arg437Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304682C>T | CA412544491 | NR0B1 | c.1310G>A (p.Arg437Lys) | |
| X | g.30304683T>A | CA412544492 | NR0B1 | c.1309A>T (p.Arg437Ter) | |
| X | g.30304683T>C | CA412544493 | NR0B1 | c.1309A>G (p.Arg437Gly) | gnomAD v4 |
| X | g.30304683T>G | CA515716057 | NR0B1 | c.1309A>C (p.Arg437=) | |
| X | g.30304684C>A | CA515716058 | NR0B1 | c.1308G>T (p.Leu436=) | |
| X | g.30304684C>G | CA515716059 | NR0B1 | c.1308G>C (p.Leu436=) | |
| X | g.30304684C>T | CA515716060 | NR0B1 | c.1308G>A (p.Leu436=) | ClinVar dbSNP gnomAD v4 |
| X | g.30304685A>C | CA412544494 | NR0B1 | c.1307T>G (p.Leu436Arg) | |
| X | g.30304685A>G | CA412544495 | NR0B1 | c.1307T>C (p.Leu436Pro) | |
| X | g.30304685A>T | CA412544496 | NR0B1 | c.1307T>A (p.Leu436Gln) | |
| X | g.30304686G>A | CA515716061 | NR0B1 | c.1306C>T (p.Leu436=) | |
| X | g.30304686G>C | CA412544497 | NR0B1 | c.1306C>G (p.Leu436Val) | |
| X | g.30304686G>T | CA412544498 | NR0B1 | c.1306C>A (p.Leu436Met) | |
| X | g.30304687C>A | CA515716062 | NR0B1 | c.1305G>T (p.Leu435=) | gnomAD v3 gnomAD v4 |
| X | g.30304687C>G | CA515716064 | NR0B1 | c.1305G>C (p.Leu435=) | |
| X | g.30304687C>T | CA515716063 | NR0B1 | c.1305G>A (p.Leu435=) | |
| X | g.30304688A>C | CA412544499 | NR0B1 | c.1304T>G (p.Leu435Arg) | |
| X | g.30304688A>G | CA412544500 | NR0B1 | c.1304T>C (p.Leu435Pro) | |
| X | g.30304688A>T | CA412544501 | NR0B1 | c.1304T>A (p.Leu435Gln) | |
| X | g.30304689G>A | CA515716065 | NR0B1 | c.1303C>T (p.Leu435=) | |
| X | g.30304689G>C | CA412544502 | NR0B1 | c.1303C>G (p.Leu435Val) |