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.30304695G>A | CA412544515 | NR0B1 | c.1297C>T (p.Leu433Phe) | |
X | g.30304695G>C | CA412544516 | NR0B1 | c.1297C>G (p.Leu433Val) | |
X | g.30304695G>T | CA412544517 | NR0B1 | c.1297C>A (p.Leu433Ile) | |
X | g.30304696G>A | CA515716072 | NR0B1 | c.1296C>T (p.Thr432=) | dbSNP |
X | g.30304696G>C | CA515716070 | NR0B1 | c.1296C>G (p.Thr432=) | dbSNP |
X | g.30304696G= | CA2422039198 | NR0B1 | c.1296C= (p.Thr432=) | |
X | g.30304696G>T | CA515716069 | NR0B1 | c.1296C>A (p.Thr432=) | |
X | g.30304697G>A | CA412544518 | NR0B1 | c.1295C>T (p.Thr432Ile) | |
X | g.30304697G>C | CA412544519 | NR0B1 | c.1295C>G (p.Thr432Ser) | |
X | g.30304697G>T | CA412544520 | NR0B1 | c.1295C>A (p.Thr432Asn) | |
X | g.30304699_30304708del | CA2580100535 | NR0B1 | c.1286_1295del (p.Leu429ProfsTer5) | ClinVar |
X | g.30304698T>A | CA412544521 | NR0B1 | c.1294A>T (p.Thr432Ser) | |
X | g.30304698T>C | CA412544522 | NR0B1 | c.1294A>G (p.Thr432Ala) | |
X | g.30304698T>G | CA412544523 | NR0B1 | c.1294A>C (p.Thr432Pro) | |
X | g.30304699A>C | CA412544524 | NR0B1 | c.1293T>G (p.Ser431Arg) | |
X | g.30304699A>G | CA515716073 | NR0B1 | c.1293T>C (p.Ser431=) | |
X | g.30304699A>T | CA412544525 | NR0B1 | c.1293T>A (p.Ser431Arg) | |
X | g.30304700del | CA2580100536 | NR0B1 | c.1292del (p.Ser431IlefsTer6) | ClinVar |
X | g.30304700C>A | CA412544526 | NR0B1 | c.1292G>T (p.Ser431Ile) | |
X | g.30304700C>G | CA412544528 | NR0B1 | c.1292G>C (p.Ser431Thr) | |
X | g.30304700C>T | CA412544527 | NR0B1 | c.1292G>A (p.Ser431Asn) | |
X | g.30304701T>A | CA412544529 | NR0B1 | c.1291A>T (p.Ser431Cys) | |
X | g.30304701T>C | CA412544530 | NR0B1 | c.1291A>G (p.Ser431Gly) | |
X | g.30304701T>G | CA412544531 | NR0B1 | c.1291A>C (p.Ser431Arg) | |
X | g.30304703_30304705del | CA2695232146 | NR0B1 | c.1289_1291del (p.Asn430del) | |
X | g.30304702A>C | CA412544532 | NR0B1 | c.1290T>G (p.Asn430Lys) | |
X | g.30304702A>G | CA515716074 | NR0B1 | c.1290T>C (p.Asn430=) | |
X | g.30304702A>T | CA412544533 | NR0B1 | c.1290T>A (p.Asn430Lys) | |
X | g.30304703T>A | CA412544534 | NR0B1 | c.1289A>T (p.Asn430Ile) | |
X | g.30304703T>C | CA412544535 | NR0B1 | c.1289A>G (p.Asn430Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304703T>G | CA412544536 | NR0B1 | c.1289A>C (p.Asn430Thr) | |
X | g.30304703T= | CA2422039199 | NR0B1 | c.1289A= (p.Asn430=) | |
X | g.30304704T>A | CA412544537 | NR0B1 | c.1288A>T (p.Asn430Tyr) | |
X | g.30304704T>C | CA412544538 | NR0B1 | c.1288A>G (p.Asn430Asp) | |
X | g.30304704T>G | CA412544539 | NR0B1 | c.1288A>C (p.Asn430His) | |
X | g.30304705A>C | CA515716075 | NR0B1 | c.1287T>G (p.Leu429=) | |
X | g.30304705A>G | CA515716076 | NR0B1 | c.1287T>C (p.Leu429=) | |
X | g.30304705A>T | CA515716077 | NR0B1 | c.1287T>A (p.Leu429=) | |
X | g.30304706A>C | CA412544542 | NR0B1 | c.1286T>G (p.Leu429Arg) | |
X | g.30304706A>G | CA412544540 | NR0B1 | c.1286T>C (p.Leu429Pro) | |
X | g.30304706A>T | CA412544541 | NR0B1 | c.1286T>A (p.Leu429His) | |
X | g.30304707G>A | CA412544543 | NR0B1 | c.1285C>T (p.Leu429Phe) | |
X | g.30304707G>C | CA412544544 | NR0B1 | c.1285C>G (p.Leu429Val) | |
X | g.30304707G>T | CA412544545 | NR0B1 | c.1285C>A (p.Leu429Ile) | |
X | g.30304708T>A | CA10376266 | NR0B1 | c.1284A>T (p.Glu428Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304708T>C | CA515716079 | NR0B1 | c.1284A>G (p.Glu428=) | |
X | g.30304708T>G | CA412544546 | NR0B1 | c.1284A>C (p.Glu428Asp) |