Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30307936_30311263del | CA658653869 | ClinVar | ||
X | g.30308209_30308223del | CA2695232158 | NR0B1 | c.1144_1158del (p.Lys382_Leu386del) c.259_273del (p.Lys87_Leu91del) | |
X | g.30308222A= | CA2422040373 | NR0B1 | c.1142T= (p.Leu381=) c.257T= (p.Leu86=) | |
X | g.30308222A>C | CA412546290 | NR0B1 | c.1142T>G (p.Leu381Arg) c.257T>G (p.Leu86Arg) | |
X | g.30308222A>G | CA412546292 | NR0B1 | c.1142T>C (p.Leu381Pro) c.257T>C (p.Leu86Pro) | ClinVar dbSNP |
X | g.30308222A>T | CA255638 | NR0B1 | c.1142T>A (p.Leu381His) c.257T>A (p.Leu86His) | ClinVar dbSNP |
X | g.30308223G>A | CA260499 | NR0B1 | c.1141C>T (p.Leu381Phe) c.256C>T (p.Leu86Phe) | ClinVar dbSNP |
X | g.30308223G>C | CA412546296 | NR0B1 | c.1141C>G (p.Leu381Val) c.256C>G (p.Leu86Val) | |
X | g.30308223G= | CA2422040374 | NR0B1 | c.1141C= (p.Leu381=) c.256C= (p.Leu86=) | |
X | g.30308223G>T | CA412546298 | NR0B1 | c.1141C>A (p.Leu381Ile) c.256C>A (p.Leu86Ile) | |
X | g.30308224G>A | CA515717408 | NR0B1 | c.1140C>T (p.Tyr380=) c.255C>T (p.Tyr85=) | dbSNP COSMIC COSMIC |
X | g.30308224G>C | CA412546301 | NR0B1 | c.1140C>G (p.Tyr380Ter) c.255C>G (p.Tyr85Ter) | |
X | g.30308224G= | CA2422040375 | NR0B1 | c.1140C= (p.Tyr380=) c.255C= (p.Tyr85=) | |
X | g.30308224G>T | CA412546302 | NR0B1 | c.1140C>A (p.Tyr380Ter) c.255C>A (p.Tyr85Ter) | |
X | g.30308225T>A | CA412546306 | NR0B1 | c.1139A>T (p.Tyr380Phe) c.254A>T (p.Tyr85Phe) | |
X | g.30308225T>C | CA412546307 | NR0B1 | c.1139A>G (p.Tyr380Cys) c.254A>G (p.Tyr85Cys) | dbSNP gnomAD v2 |
X | g.30308225T>G | CA412546310 | NR0B1 | c.1139A>C (p.Tyr380Ser) c.254A>C (p.Tyr85Ser) | |
X | g.30308225T= | CA2422040376 | NR0B1 | c.1139A= (p.Tyr380=) c.254A= (p.Tyr85=) | |
X | g.30308226A= | CA2422040377 | NR0B1 | c.1138T= (p.Tyr380=) c.253T= (p.Tyr85=) | |
X | g.30308226A>C | CA255639 | NR0B1 | c.1138T>G (p.Tyr380Asp) c.253T>G (p.Tyr85Asp) | ClinVar dbSNP |
X | g.30308226A>G | CA412546313 | NR0B1 | c.1138T>C (p.Tyr380His) c.253T>C (p.Tyr85His) | |
X | g.30308226A>T | CA412546312 | NR0B1 | c.1138T>A (p.Tyr380Asn) c.253T>A (p.Tyr85Asn) | |
X | g.30308226_30308227insT | CA2695232160 | NR0B1 | c.1137_1138insA (p.Tyr380IlefsTer9) c.252_253insA (p.Tyr85IlefsTer9) | |
X | g.30308227G>A | CA515717409 | NR0B1 | c.1137C>T (p.Ala379=) c.252C>T (p.Ala84=) | gnomAD v4 |
X | g.30308227G>C | CA515717410 | NR0B1 | c.1137C>G (p.Ala379=) c.252C>G (p.Ala84=) | |
X | g.30308227G>T | CA515717411 | NR0B1 | c.1137C>A (p.Ala379=) c.252C>A (p.Ala84=) | |
X | g.30308228G>A | CA412546316 | NR0B1 | c.1136C>T (p.Ala379Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308228G>C | CA412546319 | NR0B1 | c.1136C>G (p.Ala379Gly) c.251C>G (p.Ala84Gly) | |
X | g.30308228G>T | CA412546321 | NR0B1 | c.1136C>A (p.Ala379Asp) c.251C>A (p.Ala84Asp) | COSMIC COSMIC |
X | g.30308229C>A | CA412546323 | NR0B1 | c.1135G>T (p.Ala379Ser) c.250G>T (p.Ala84Ser) | |
X | g.30308229C>G | CA412546326 | NR0B1 | c.1135G>C (p.Ala379Pro) c.250G>C (p.Ala84Pro) | |
X | g.30308229C>T | CA412546328 | NR0B1 | c.1135G>A (p.Ala379Thr) c.250G>A (p.Ala84Thr) | COSMIC COSMIC |
X | g.30308230G>A | CA515717412 | NR0B1 | c.1134C>T (p.Tyr378=) c.249C>T (p.Tyr83=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308230G>C | CA412546329 | NR0B1 | c.1134C>G (p.Tyr378Ter) c.249C>G (p.Tyr83Ter) | |
X | g.30308230G= | CA2422040378 | NR0B1 | c.1134C= (p.Tyr378=) c.249C= (p.Tyr83=) | |
X | g.30308230G>T | CA412546331 | NR0B1 | c.1134C>A (p.Tyr378Ter) c.249C>A (p.Tyr83Ter) | |
X | g.30308231T>A | CA412546332 | NR0B1 | c.1133A>T (p.Tyr378Phe) c.248A>T (p.Tyr83Phe) | |
X | g.30308231T>C | CA412546333 | NR0B1 | c.1133A>G (p.Tyr378Cys) c.248A>G (p.Tyr83Cys) | |
X | g.30308231T>G | CA412546335 | NR0B1 | c.1133A>C (p.Tyr378Ser) c.248A>C (p.Tyr83Ser) | |
X | g.30308232del | CA2695232161 | NR0B1 | c.1132del (p.Tyr378ThrfsTer20) c.247del (p.Tyr83ThrfsTer27) | |
X | g.30308232A>C | CA412546341 | NR0B1 | c.1132T>G (p.Tyr378Asp) c.247T>G (p.Tyr83Asp) | |
X | g.30308232A>G | CA412546339 | NR0B1 | c.1132T>C (p.Tyr378His) c.247T>C (p.Tyr83His) | |
X | g.30308232A>T | CA412546337 | NR0B1 | c.1132T>A (p.Tyr378Asn) c.247T>A (p.Tyr83Asn) | |
X | g.30308233C>A | CA412546344 | NR0B1 | c.1131G>T (p.Glu377Asp) c.246G>T (p.Glu82Asp) | |
X | g.30308233C>G | CA412546346 | NR0B1 | c.1131G>C (p.Glu377Asp) c.246G>C (p.Glu82Asp) | |
X | g.30308233C>T | CA515717413 | NR0B1 | c.1131G>A (p.Glu377=) c.246G>A (p.Glu82=) | gnomAD v4 |
X | g.30308234del | CA2695232163 | NR0B1 | c.1130del (p.Glu377GlyfsTer21) c.245del (p.Glu82GlyfsTer28) | |
X | g.30308234T>A | CA412546349 | NR0B1 | c.1130A>T (p.Glu377Val) c.245A>T (p.Glu82Val) | |
X | g.30308234T>C | CA412546351 | NR0B1 | c.1130A>G (p.Glu377Gly) c.245A>G (p.Glu82Gly) | |
X | g.30308234T>G | CA412546353 | NR0B1 | c.1130A>C (p.Glu377Ala) c.245A>C (p.Glu82Ala) |