| 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.30304576A>C | CA2524973675 | NR0B1 | c.*3T>G (n.*3T>G) | |
| X | g.30304576A>G | CA2566768107 | NR0B1 | c.*3T>C (n.*3T>C) | |
| X | g.30304577C>T | CA2525437009 | NR0B1 | c.*2G>A (n.*2G>A) | gnomAD v4 |
| X | g.30304579T>A | CA412544254 | NR0B1 | c.1413A>T (p.Ter471Tyr) | |
| X | g.30304579T>C | CA515715948 | NR0B1 | c.1413A>G (p.Ter471=) | |
| X | g.30304579T>G | CA412544253 | NR0B1 | c.1413A>C (p.Ter471Tyr) | |
| X | g.30304580T>A | CA412544255 | NR0B1 | c.1412A>T (p.Ter471Leu) | |
| X | g.30304580T>C | CA515715950 | NR0B1 | c.1412A>G (p.Ter471=) | gnomAD v4 |
| X | g.30304580T>G | CA412544256 | NR0B1 | c.1412A>C (p.Ter471Ser) | |
| X | g.30304581A= | CA2422039165 | NR0B1 | c.1411T= (p.Ter471=) | |
| X | g.30304581A>C | CA412544257 | NR0B1 | c.1411T>G (p.Ter471Glu) | |
| X | g.30304581A>G | CA412544258 | NR0B1 | c.1411T>C (p.Ter471Gln) | ClinVar dbSNP |
| X | g.30304581A>T | CA412544259 | NR0B1 | c.1411T>A (p.Ter471Lys) | |
| X | g.30304582T>A | CA515715952 | NR0B1 | c.1410A>T (p.Ile470=) | |
| X | g.30304582T>C | CA10376254 | NR0B1 | c.1410A>G (p.Ile470Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304582T>G | CA515715953 | NR0B1 | c.1410A>C (p.Ile470=) | |
| X | g.30304582T= | CA2422039166 | NR0B1 | c.1410A= (p.Ile470=) | |
| X | g.30304583A>C | CA412544262 | NR0B1 | c.1409T>G (p.Ile470Arg) | |
| X | g.30304583A>G | CA412544260 | NR0B1 | c.1409T>C (p.Ile470Thr) | gnomAD v4 |
| X | g.30304583A>T | CA412544261 | NR0B1 | c.1409T>A (p.Ile470Lys) | |
| X | g.30304584T>A | CA412544263 | NR0B1 | c.1408A>T (p.Ile470Leu) | gnomAD v4 |
| X | g.30304584T>C | CA412544264 | NR0B1 | c.1408A>G (p.Ile470Val) | |
| X | g.30304584T>G | CA412544265 | NR0B1 | c.1408A>C (p.Ile470Leu) | |
| X | g.30304585C>A | CA412544266 | NR0B1 | c.1407G>T (p.Lys469Asn) | |
| X | g.30304585C>G | CA412544267 | NR0B1 | c.1407G>C (p.Lys469Asn) | |
| X | g.30304585C>T | CA515715956 | NR0B1 | c.1407G>A (p.Lys469=) | |
| X | g.30304586T>A | CA412544268 | NR0B1 | c.1406A>T (p.Lys469Met) | |
| X | g.30304586T>C | CA412544270 | NR0B1 | c.1406A>G (p.Lys469Arg) | |
| X | g.30304586T>G | CA412544269 | NR0B1 | c.1406A>C (p.Lys469Thr) | |
| X | g.30304587T>A | CA412544271 | NR0B1 | c.1405A>T (p.Lys469Ter) | |
| X | g.30304587T>C | CA412544272 | NR0B1 | c.1405A>G (p.Lys469Glu) | gnomAD v4 |
| X | g.30304587T>G | CA412544273 | NR0B1 | c.1405A>C (p.Lys469Gln) | |
| X | g.30304588T>A | CA515715959 | NR0B1 | c.1404A>T (p.Thr468=) | |
| X | g.30304588T>C | CA515715960 | NR0B1 | c.1404A>G (p.Thr468=) | |
| X | g.30304588T>G | CA515715961 | NR0B1 | c.1404A>C (p.Thr468=) | gnomAD v4 |
| X | g.30304589G>A | CA412544274 | NR0B1 | c.1403C>T (p.Thr468Ile) | |
| X | g.30304589G>C | CA412544275 | NR0B1 | c.1403C>G (p.Thr468Arg) | |
| X | g.30304589G>T | CA412544276 | NR0B1 | c.1403C>A (p.Thr468Lys) | |
| X | g.30304590T>A | CA412544277 | NR0B1 | c.1402A>T (p.Thr468Ser) | |
| X | g.30304590T>C | CA412544278 | NR0B1 | c.1402A>G (p.Thr468Ala) | COSMIC |
| X | g.30304590T>G | CA412544279 | NR0B1 | c.1402A>C (p.Thr468Pro) | |
| X | g.30304591A>C | CA412544280 | NR0B1 | c.1401T>G (p.Cys467Trp) | |
| X | g.30304591A>G | CA515715962 | NR0B1 | c.1401T>C (p.Cys467=) | |
| X | g.30304591A>T | CA412544281 | NR0B1 | c.1401T>A (p.Cys467Ter) | |
| X | g.30304592C>A | CA412544283 | NR0B1 | c.1400G>T (p.Cys467Phe) | |
| X | g.30304592C>G | CA412544284 | NR0B1 | c.1400G>C (p.Cys467Ser) | |
| X | g.30304592C>T | CA412544282 | NR0B1 | c.1400G>A (p.Cys467Tyr) |