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.30304594G>A | CA515715967 | NR0B1 | c.1398C>T (p.Leu466=) | gnomAD v4 |
X | g.30304594G>C | CA515715968 | NR0B1 | c.1398C>G (p.Leu466=) | ClinVar gnomAD v3 gnomAD v4 |
X | g.30304594G>T | CA515715969 | NR0B1 | c.1398C>A (p.Leu466=) | |
X | g.30304595A>C | CA412544288 | NR0B1 | c.1397T>G (p.Leu466Arg) | |
X | g.30304595A>G | CA412544289 | NR0B1 | c.1397T>C (p.Leu466Pro) | |
X | g.30304595A>T | CA412544290 | NR0B1 | c.1397T>A (p.Leu466His) | |
X | g.30304596G>A | CA412544291 | NR0B1 | c.1396C>T (p.Leu466Phe) | |
X | g.30304596G>C | CA412544292 | NR0B1 | c.1396C>G (p.Leu466Val) | gnomAD v4 |
X | g.30304596G>T | CA412544293 | NR0B1 | c.1396C>A (p.Leu466Ile) | |
X | g.30304597C>A | CA412544294 | NR0B1 | c.1395G>T (p.Met465Ile) | |
X | g.30304597C>G | CA412544295 | NR0B1 | c.1395G>C (p.Met465Ile) | |
X | g.30304597C>T | CA412544296 | NR0B1 | c.1395G>A (p.Met465Ile) | |
X | g.30304598A>C | CA412544299 | NR0B1 | c.1394T>G (p.Met465Arg) | |
X | g.30304598A>G | CA412544298 | NR0B1 | c.1394T>C (p.Met465Thr) | |
X | g.30304598A>T | CA412544297 | NR0B1 | c.1394T>A (p.Met465Lys) | |
X | g.30304599T>A | CA412544300 | NR0B1 | c.1393A>T (p.Met465Leu) | |
X | g.30304599T>C | CA412544301 | NR0B1 | c.1393A>G (p.Met465Val) | dbSNP |
X | g.30304599T>G | CA412544302 | NR0B1 | c.1393A>C (p.Met465Leu) | |
X | g.30304599T= | CA2422039167 | NR0B1 | c.1393A= (p.Met465=) | |
X | g.30304600T>A | CA412544303 | NR0B1 | c.1392A>T (p.Glu464Asp) | |
X | g.30304600T>C | CA515715981 | NR0B1 | c.1392A>G (p.Glu464=) | |
X | g.30304600T>G | CA412544304 | NR0B1 | c.1392A>C (p.Glu464Asp) | |
X | g.30304601T>A | CA412544305 | NR0B1 | c.1391A>T (p.Glu464Val) | gnomAD v4 |
X | g.30304601T>C | CA412544306 | NR0B1 | c.1391A>G (p.Glu464Gly) | gnomAD v4 |
X | g.30304601T>G | CA412544307 | NR0B1 | c.1391A>C (p.Glu464Ala) | |
X | g.30304602C>A | CA412544308 | NR0B1 | c.1390G>T (p.Glu464Ter) | |
X | g.30304602C= | CA2422039168 | NR0B1 | c.1390G= (p.Glu464=) | |
X | g.30304602C>G | CA412544309 | NR0B1 | c.1390G>C (p.Glu464Gln) | |
X | g.30304602C>T | CA412544310 | NR0B1 | c.1390G>A (p.Glu464Lys) | dbSNP |
X | g.30304603C>A | CA515715988 | NR0B1 | c.1389G>T (p.Leu463=) | |
X | g.30304603C>G | CA515715987 | NR0B1 | c.1389G>C (p.Leu463=) | |
X | g.30304603C>T | CA515715986 | NR0B1 | c.1389G>A (p.Leu463=) | |
X | g.30304604A>C | CA412544311 | NR0B1 | c.1388T>G (p.Leu463Arg) | gnomAD v4 |
X | g.30304604A>G | CA412544312 | NR0B1 | c.1388T>C (p.Leu463Pro) | |
X | g.30304604A>T | CA412544313 | NR0B1 | c.1388T>A (p.Leu463Gln) | |
X | g.30304605G>A | CA10376255 | NR0B1 | c.1387C>T (p.Leu463=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30304605G>C | CA412544315 | NR0B1 | c.1387C>G (p.Leu463Val) | |
X | g.30304605G= | CA2422039169 | NR0B1 | c.1387C= (p.Leu463=) | |
X | g.30304605G>T | CA412544314 | NR0B1 | c.1387C>A (p.Leu463Met) | COSMIC |
X | g.30304606C>A | CA412544316 | NR0B1 | c.1386G>T (p.Met462Ile) | |
X | g.30304606C>G | CA412544317 | NR0B1 | c.1386G>C (p.Met462Ile) | |
X | g.30304606C>T | CA412544318 | NR0B1 | c.1386G>A (p.Met462Ile) | |
X | g.30304607A>C | CA412544319 | NR0B1 | c.1385T>G (p.Met462Arg) | |
X | g.30304607A>G | CA412544320 | NR0B1 | c.1385T>C (p.Met462Thr) | |
X | g.30304607A>T | CA412544321 | NR0B1 | c.1385T>A (p.Met462Lys) | |
X | g.30304608T>A | CA412544322 | NR0B1 | c.1384A>T (p.Met462Leu) | dbSNP gnomAD v4 |
X | g.30304608T>C | CA412544323 | NR0B1 | c.1384A>G (p.Met462Val) |