Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30307936_30311263del | CA658653869 | ClinVar | ||
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) | |
X | g.30308234delinsAC | CA2695232162 | NR0B1 | c.1130delinsGT (p.Glu377GlyfsTer12) c.245delinsGT (p.Glu82GlyfsTer12) | |
X | g.30308235C>A | CA412546356 | NR0B1 | c.1129G>T (p.Glu377Ter) c.244G>T (p.Glu82Ter) | |
X | g.30308235C>G | CA412546358 | NR0B1 | c.1129G>C (p.Glu377Gln) c.244G>C (p.Glu82Gln) | |
X | g.30308235C>T | CA412546360 | NR0B1 | c.1129G>A (p.Glu377Lys) c.244G>A (p.Glu82Lys) | |
X | g.30308236C>A | CA412546363 | NR0B1 | c.1128G>T (p.Lys376Asn) c.243G>T (p.Lys81Asn) | |
X | g.30308236C>G | CA412546365 | NR0B1 | c.1128G>C (p.Lys376Asn) c.243G>C (p.Lys81Asn) | |
X | g.30308236C>T | CA515717414 | NR0B1 | c.1128G>A (p.Lys376=) c.243G>A (p.Lys81=) | |
X | g.30308237T>A | CA412546368 | NR0B1 | c.1127A>T (p.Lys376Met) c.242A>T (p.Lys81Met) | |
X | g.30308237T>C | CA412546369 | NR0B1 | c.1127A>G (p.Lys376Arg) c.242A>G (p.Lys81Arg) | |
X | g.30308237T>G | CA412546372 | NR0B1 | c.1127A>C (p.Lys376Thr) c.242A>C (p.Lys81Thr) | |
X | g.30308238T>A | CA412546378 | NR0B1 | c.1126A>T (p.Lys376Ter) c.241A>T (p.Lys81Ter) | |
X | g.30308238T>C | CA412546375 | NR0B1 | c.1126A>G (p.Lys376Glu) c.241A>G (p.Lys81Glu) | gnomAD v4 |
X | g.30308238T>G | CA412546377 | NR0B1 | c.1126A>C (p.Lys376Gln) c.241A>C (p.Lys81Gln) | |
X | g.30308239G>A | CA515717415 | NR0B1 | c.1125C>T (p.Thr375=) c.240C>T (p.Thr80=) | ClinVar dbSNP |
X | g.30308239G>C | CA515717416 | NR0B1 | c.1125C>G (p.Thr375=) c.240C>G (p.Thr80=) | |
X | g.30308239G= | CA2422040379 | NR0B1 | c.1125C= (p.Thr375=) c.240C= (p.Thr80=) | |
X | g.30308239G>T | CA515717417 | NR0B1 | c.1125C>A (p.Thr375=) c.240C>A (p.Thr80=) | |
X | g.30308240G>A | CA412546381 | NR0B1 | c.1124C>T (p.Thr375Ile) c.239C>T (p.Thr80Ile) | |
X | g.30308240G>C | CA412546382 | NR0B1 | c.1124C>G (p.Thr375Ser) c.239C>G (p.Thr80Ser) | |
X | g.30308240G= | CA2422040380 | NR0B1 | c.1124C= (p.Thr375=) c.239C= (p.Thr80=) | |
X | g.30308240G>T | CA412546385 | NR0B1 | c.1124C>A (p.Thr375Asn) c.239C>A (p.Thr80Asn) | |
X | g.30308240_30308241insA | CA658684287 | NR0B1 | c.1123_1124insT (p.Thr375IlefsTer14) c.238_239insT (p.Thr80IlefsTer14) | ClinVar dbSNP |
X | g.30308241T>A | CA412546387 | NR0B1 | c.1123A>T (p.Thr375Ser) c.238A>T (p.Thr80Ser) | |
X | g.30308241T>C | CA412546390 | NR0B1 | c.1123A>G (p.Thr375Ala) c.238A>G (p.Thr80Ala) | |
X | g.30308241T>G | CA412546392 | NR0B1 | c.1123A>C (p.Thr375Pro) c.238A>C (p.Thr80Pro) | |
X | g.30308242A>C | CA412546395 | NR0B1 | c.1122T>G (p.Ser374Arg) c.237T>G (p.Ser79Arg) | |
X | g.30308242A>G | CA515717418 | NR0B1 | c.1122T>C (p.Ser374=) c.237T>C (p.Ser79=) | |
X | g.30308242A>T | CA412546397 | NR0B1 | c.1122T>A (p.Ser374Arg) c.237T>A (p.Ser79Arg) | |
X | g.30308243C>A | CA412546400 | NR0B1 | c.1121G>T (p.Ser374Ile) c.236G>T (p.Ser79Ile) | |
X | g.30308243C= | CA2422040381 | NR0B1 | c.1121G= (p.Ser374=) c.236G= (p.Ser79=) | |
X | g.30308243C>G | CA412546402 | NR0B1 | c.1121G>C (p.Ser374Thr) c.236G>C (p.Ser79Thr) | |
X | g.30308243C>T | CA412546404 | NR0B1 | c.1121G>A (p.Ser374Asn) c.236G>A (p.Ser79Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.30308244T>A | CA412546411 | NR0B1 | c.1120A>T (p.Ser374Cys) c.235A>T (p.Ser79Cys) | |
X | g.30308244T>C | CA412546409 | NR0B1 | c.1120A>G (p.Ser374Gly) c.235A>G (p.Ser79Gly) | |
X | g.30308244T>G | CA412546406 | NR0B1 | c.1120A>C (p.Ser374Arg) c.235A>C (p.Ser79Arg) | |
X | g.30308245G>A | CA327975794 | NR0B1 | c.1119C>T (p.Ile373=) c.234C>T (p.Ile78=) | ClinVar dbSNP |
X | g.30308245G>C | CA412546414 | NR0B1 | c.1119C>G (p.Ile373Met) c.234C>G (p.Ile78Met) | |
X | g.30308245G= | CA2422040382 | NR0B1 | c.1119C= (p.Ile373=) c.234C= (p.Ile78=) | |
X | g.30308245G>T | CA515717419 | NR0B1 | c.1119C>A (p.Ile373=) c.234C>A (p.Ile78=) | |
X | g.30308246A>C | CA412546417 | NR0B1 | c.1118T>G (p.Ile373Ser) c.233T>G (p.Ile78Ser) | |
X | g.30308246A>G | CA412546419 | NR0B1 | c.1118T>C (p.Ile373Thr) c.233T>C (p.Ile78Thr) | |
X | g.30308246A>T | CA412546421 | NR0B1 | c.1118T>A (p.Ile373Asn) c.233T>A (p.Ile78Asn) | |
X | g.30308247T>A | CA412546424 | NR0B1 | c.1117A>T (p.Ile373Phe) c.232A>T (p.Ile78Phe) | |
X | g.30308247T>C | CA412546426 | NR0B1 | c.1117A>G (p.Ile373Val) c.232A>G (p.Ile78Val) | |
X | g.30308247T>G | CA412546428 | NR0B1 | c.1117A>C (p.Ile373Leu) c.232A>C (p.Ile78Leu) | |
X | g.30308248_30308250del | CA2695232164 | NR0B1 | c.1115_1117del (p.Asn372del) c.230_232del (p.Asn77del) | |
X | g.30308248G>A | CA515717420 | NR0B1 | c.1116C>T (p.Asn372=) c.231C>T (p.Asn77=) | |
X | g.30308248G>C | CA412546431 | NR0B1 | c.1116C>G (p.Asn372Lys) c.231C>G (p.Asn77Lys) | |
X | g.30308248G>T | CA412546430 | NR0B1 | c.1116C>A (p.Asn372Lys) c.231C>A (p.Asn77Lys) | |
X | g.30308249T>A | CA412546433 | NR0B1 | c.1115A>T (p.Asn372Ile) c.230A>T (p.Asn77Ile) | |
X | g.30308249T>C | CA412546436 | NR0B1 | c.1115A>G (p.Asn372Ser) c.230A>G (p.Asn77Ser) | |
X | g.30308249T>G | CA412546438 | NR0B1 | c.1115A>C (p.Asn372Thr) c.230A>C (p.Asn77Thr) | gnomAD v4 |
X | g.30308250T>A | CA412546441 | NR0B1 | c.1114A>T (p.Asn372Tyr) c.229A>T (p.Asn77Tyr) | |
X | g.30308250T>C | CA412546443 | NR0B1 | c.1114A>G (p.Asn372Asp) c.229A>G (p.Asn77Asp) | |
X | g.30308250T>G | CA412546445 | NR0B1 | c.1114A>C (p.Asn372His) c.229A>C (p.Asn77His) | |
X | g.30308251C>A | CA515717421 | NR0B1 | c.1113G>T (p.Leu371=) c.228G>T (p.Leu76=) | |
X | g.30308251C>G | CA515717422 | NR0B1 | c.1113G>C (p.Leu371=) c.228G>C (p.Leu76=) | |
X | g.30308251C>T | CA515717423 | NR0B1 | c.1113G>A (p.Leu371=) c.228G>A (p.Leu76=) | |
X | g.30308252A>C | CA412546448 | NR0B1 | c.1112T>G (p.Leu371Arg) c.227T>G (p.Leu76Arg) | |
X | g.30308252A>G | CA412546450 | NR0B1 | c.1112T>C (p.Leu371Pro) c.227T>C (p.Leu76Pro) | |
X | g.30308252A>T | CA412546449 | NR0B1 | c.1112T>A (p.Leu371Gln) c.227T>A (p.Leu76Gln) | |
X | g.30308253G>A | CA515717424 | NR0B1 | c.1111C>T (p.Leu371=) c.226C>T (p.Leu76=) | |
X | g.30308253G>C | CA412546452 | NR0B1 | c.1111C>G (p.Leu371Val) c.226C>G (p.Leu76Val) | |
X | g.30308253G>T | CA412546454 | NR0B1 | c.1111C>A (p.Leu371Met) c.226C>A (p.Leu76Met) | |
X | g.30308254A>C | CA412546457 | NR0B1 | c.1110T>G (p.Ser370Arg) c.225T>G (p.Ser75Arg) | |
X | g.30308254A>G | CA515717425 | NR0B1 | c.1110T>C (p.Ser370=) c.225T>C (p.Ser75=) | |
X | g.30308254A>T | CA412546459 | NR0B1 | c.1110T>A (p.Ser370Arg) c.225T>A (p.Ser75Arg) | |
X | g.30308255C>A | CA412546461 | NR0B1 | c.1109G>T (p.Ser370Ile) c.224G>T (p.Ser75Ile) | |
X | g.30308255C= | CA2422040383 | NR0B1 | c.1109G= (p.Ser370=) c.224G= (p.Ser75=) | |
X | g.30308255C>G | CA412546462 | NR0B1 | c.1109G>C (p.Ser370Thr) c.224G>C (p.Ser75Thr) | |
X | g.30308255C>T | CA412546464 | NR0B1 | c.1109G>A (p.Ser370Asn) c.224G>A (p.Ser75Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.30308256T>A | CA412546466 | NR0B1 | c.1108A>T (p.Ser370Cys) c.223A>T (p.Ser75Cys) | COSMIC COSMIC |
X | g.30308256T>C | CA412546467 | NR0B1 | c.1108A>G (p.Ser370Gly) c.223A>G (p.Ser75Gly) | |
X | g.30308256T>G | CA412546468 | NR0B1 | c.1108A>C (p.Ser370Arg) c.223A>C (p.Ser75Arg) | gnomAD v3 gnomAD v4 |
X | g.30308257C>A | CA412546474 | NR0B1 | c.1107G>T (p.Trp369Cys) c.222G>T (p.Trp74Cys) | |
X | g.30308257C= | CA2422040384 | NR0B1 | c.1107G= (p.Trp369=) c.222G= (p.Trp74=) | |
X | g.30308257C>G | CA412546472 | NR0B1 | c.1107G>C (p.Trp369Cys) c.222G>C (p.Trp74Cys) | dbSNP gnomAD v4 |
X | g.30308257C>T | CA255617 | NR0B1 | c.1107G>A (p.Trp369Ter) c.222G>A (p.Trp74Ter) | ClinVar dbSNP |
X | g.30308258C>A | CA412546476 | NR0B1 | c.1106G>T (p.Trp369Leu) c.221G>T (p.Trp74Leu) | |
X | g.30308258C>G | CA412546478 | NR0B1 | c.1106G>C (p.Trp369Ser) c.221G>C (p.Trp74Ser) | |
X | g.30308258C>T | CA412546480 | NR0B1 | c.1106G>A (p.Trp369Ter) c.221G>A (p.Trp74Ter) | |
X | g.30308259A>C | CA412546483 | NR0B1 | c.1105T>G (p.Trp369Gly) c.220T>G (p.Trp74Gly) | |
X | g.30308259A>G | CA412546484 | NR0B1 | c.1105T>C (p.Trp369Arg) c.220T>C (p.Trp74Arg) | |
X | g.30308259A>T | CA412546487 | NR0B1 | c.1105T>A (p.Trp369Arg) c.220T>A (p.Trp74Arg) | |
X | g.30308260G>A | CA515717426 | NR0B1 | c.1104C>T (p.Cys368=) c.219C>T (p.Cys73=) | |
X | g.30308260G>C | CA412546489 | NR0B1 | c.1104C>G (p.Cys368Trp) c.219C>G (p.Cys73Trp) | |
X | g.30308260G>T | CA412546492 | NR0B1 | c.1104C>A (p.Cys368Ter) c.219C>A (p.Cys73Ter) | ClinVar |
X | g.30308261C>A | CA412546494 | NR0B1 | c.1103G>T (p.Cys368Phe) c.218G>T (p.Cys73Phe) | ClinVar |
X | g.30308261C>G | CA412546497 | NR0B1 | c.1103G>C (p.Cys368Ser) c.218G>C (p.Cys73Ser) | |
X | g.30308261C>T | CA412546499 | NR0B1 | c.1103G>A (p.Cys368Tyr) c.218G>A (p.Cys73Tyr) | |
X | g.30308262A>C | CA412546501 | NR0B1 | c.1102T>G (p.Cys368Gly) c.217T>G (p.Cys73Gly) | |
X | g.30308262A>G | CA412546504 | NR0B1 | c.1102T>C (p.Cys368Arg) c.217T>C (p.Cys73Arg) | |
X | g.30308262A>T | CA412546506 | NR0B1 | c.1102T>A (p.Cys368Ser) c.217T>A (p.Cys73Ser) | |
X | g.30308263T>A | CA412546508 | NR0B1 | c.1101A>T (p.Lys367Asn) c.216A>T (p.Lys72Asn) | |
X | g.30308263T>C | CA515717427 | NR0B1 | c.1101A>G (p.Lys367=) c.216A>G (p.Lys72=) | |
X | g.30308263T>G | CA412546510 | NR0B1 | c.1101A>C (p.Lys367Asn) c.216A>C (p.Lys72Asn) | |
X | g.30308264T>A | CA412546512 | NR0B1 | c.1100A>T (p.Lys367Ile) c.215A>T (p.Lys72Ile) | |
X | g.30308264T>C | CA412546515 | NR0B1 | c.1100A>G (p.Lys367Arg) c.215A>G (p.Lys72Arg) | |
X | g.30308264T>G | CA412546517 | NR0B1 | c.1100A>C (p.Lys367Thr) c.215A>C (p.Lys72Thr) | |
X | g.30308265T>A | CA412546519 | NR0B1 | c.1099A>T (p.Lys367Ter) c.214A>T (p.Lys72Ter) | |
X | g.30308265T>C | CA412546521 | NR0B1 | c.1099A>G (p.Lys367Glu) c.214A>G (p.Lys72Glu) | |
X | g.30308265T>G | CA412546523 | NR0B1 | c.1099A>C (p.Lys367Gln) c.214A>C (p.Lys72Gln) | |
X | g.30308266G>A | CA515717428 | NR0B1 | c.1098C>T (p.Ser366=) c.213C>T (p.Ser71=) | |
X | g.30308266G>C | CA515717429 | NR0B1 | c.1098C>G (p.Ser366=) c.213C>G (p.Ser71=) | |
X | g.30308266G>T | CA515717430 | NR0B1 | c.1098C>A (p.Ser366=) c.213C>A (p.Ser71=) | |
X | g.30308267G>A | CA412546524 | NR0B1 | c.1097C>T (p.Ser366Phe) c.212C>T (p.Ser71Phe) | |
X | g.30308267G>C | CA412546526 | NR0B1 | c.1097C>G (p.Ser366Cys) c.212C>G (p.Ser71Cys) | |
X | g.30308267G>T | CA412546528 | NR0B1 | c.1097C>A (p.Ser366Tyr) c.212C>A (p.Ser71Tyr) | |
X | g.30308268A>C | CA412546530 | NR0B1 | c.1096T>G (p.Ser366Ala) c.211T>G (p.Ser71Ala) | |
X | g.30308268A>G | CA412546531 | NR0B1 | c.1096T>C (p.Ser366Pro) c.211T>C (p.Ser71Pro) | |
X | g.30308268A>T | CA412546533 | NR0B1 | c.1096T>A (p.Ser366Thr) c.211T>A (p.Ser71Thr) | |
X | g.30308269A>C | CA515717433 | NR0B1 | c.1095T>G (p.Leu365=) c.210T>G (p.Leu70=) | |
X | g.30308269A>G | CA515717431 | NR0B1 | c.1095T>C (p.Leu365=) c.210T>C (p.Leu70=) | |
X | g.30308269A>T | CA515717432 | NR0B1 | c.1095T>A (p.Leu365=) c.210T>A (p.Leu70=) | |
X | g.30308270A= | CA2422040385 | NR0B1 | c.1094T= (p.Leu365=) c.209T= (p.Leu70=) | |
X | g.30308270A>C | CA412546539 | NR0B1 | c.1094T>G (p.Leu365Arg) c.209T>G (p.Leu70Arg) | |
X | g.30308270A>G | CA260497 | NR0B1 | c.1094T>C (p.Leu365Pro) c.209T>C (p.Leu70Pro) | ClinVar dbSNP |
X | g.30308270A>T | CA412546535 | NR0B1 | c.1094T>A (p.Leu365His) c.209T>A (p.Leu70His) | |
X | g.30308271G>A | CA412546547 | NR0B1 | c.1093C>T (p.Leu365Phe) c.208C>T (p.Leu70Phe) | |
X | g.30308271G>C | CA412546542 | NR0B1 | c.1093C>G (p.Leu365Val) c.208C>G (p.Leu70Val) | |
X | g.30308271G>T | CA412546543 | NR0B1 | c.1093C>A (p.Leu365Ile) c.208C>A (p.Leu70Ile) | COSMIC COSMIC |
X | g.30308272A>C | CA412546549 | NR0B1 | c.1092T>G (p.Phe364Leu) c.207T>G (p.Phe69Leu) | |
X | g.30308272A>G | CA515717434 | NR0B1 | c.1092T>C (p.Phe364=) c.207T>C (p.Phe69=) | |
X | g.30308272A>T | CA412546550 | NR0B1 | c.1092T>A (p.Phe364Leu) c.207T>A (p.Phe69Leu) | |
X | g.30308274del | CA2695232165 | NR0B1 | c.1092del (p.Leu365PhefsTer7) c.207del (p.Leu70PhefsTer7) | |
X | g.30308273A>C | CA412546553 | NR0B1 | c.1091T>G (p.Phe364Cys) c.206T>G (p.Phe69Cys) | |
X | g.30308273A>G | CA412546561 | NR0B1 | c.1091T>C (p.Phe364Ser) c.206T>C (p.Phe69Ser) | |
X | g.30308273A>T | CA412546562 | NR0B1 | c.1091T>A (p.Phe364Tyr) c.206T>A (p.Phe69Tyr) | |
X | g.30308274A>C | CA412546567 | NR0B1 | c.1090T>G (p.Phe364Val) c.205T>G (p.Phe69Val) | |
X | g.30308274A>G | CA412546564 | NR0B1 | c.1090T>C (p.Phe364Leu) c.205T>C (p.Phe69Leu) | |
X | g.30308274A>T | CA412546566 | NR0B1 | c.1090T>A (p.Phe364Ile) c.205T>A (p.Phe69Ile) | |
X | g.30308275G>A | CA515717435 | NR0B1 | c.1089C>T (p.Cys363=) c.204C>T (p.Cys68=) | gnomAD v4 |
X | g.30308275G>C | CA412546570 | NR0B1 | c.1089C>G (p.Cys363Trp) c.204C>G (p.Cys68Trp) | |
X | g.30308275G>T | CA412546571 | NR0B1 | c.1089C>A (p.Cys363Ter) c.204C>A (p.Cys68Ter) | |
X | g.30308276C>A | CA412546573 | NR0B1 | c.1088G>T (p.Cys363Phe) c.203G>T (p.Cys68Phe) | |
X | g.30308276C>G | CA412546575 | NR0B1 | c.1088G>C (p.Cys363Ser) c.203G>C (p.Cys68Ser) | |
X | g.30308276C>T | CA412546578 | NR0B1 | c.1088G>A (p.Cys363Tyr) c.203G>A (p.Cys68Tyr) | |
X | g.30308277A>C | CA412546581 | NR0B1 | c.1087T>G (p.Cys363Gly) c.202T>G (p.Cys68Gly) | |
X | g.30308277A>G | CA412546584 | NR0B1 | c.1087T>C (p.Cys363Arg) c.202T>C (p.Cys68Arg) | |
X | g.30308277A>T | CA412546583 | NR0B1 | c.1087T>A (p.Cys363Ser) c.202T>A (p.Cys68Ser) | |
X | g.30308278C>A | CA412546585 | NR0B1 | c.1086G>T (p.Lys362Asn) c.201G>T (p.Lys67Asn) | |
X | g.30308278C>G | CA412546587 | NR0B1 | c.1086G>C (p.Lys362Asn) c.201G>C (p.Lys67Asn) | |
X | g.30308278C>T | CA515717436 | NR0B1 | c.1086G>A (p.Lys362=) c.201G>A (p.Lys67=) | gnomAD v4 |
X | g.30308279T>A | CA412546589 | NR0B1 | c.1085A>T (p.Lys362Met) c.200A>T (p.Lys67Met) | |
X | g.30308279T>C | CA412546590 | NR0B1 | c.1085A>G (p.Lys362Arg) c.200A>G (p.Lys67Arg) | |
X | g.30308279T>G | CA412546592 | NR0B1 | c.1085A>C (p.Lys362Thr) c.200A>C (p.Lys67Thr) | |
X | g.30308280T>A | CA412546593 | NR0B1 | c.1084A>T (p.Lys362Ter) c.199A>T (p.Lys67Ter) | |
X | g.30308280T>C | CA412546594 | NR0B1 | c.1084A>G (p.Lys362Glu) c.199A>G (p.Lys67Glu) | |
X | g.30308280T>G | CA412546595 | NR0B1 | c.1084A>C (p.Lys362Gln) c.199A>C (p.Lys67Gln) | |
X | g.30308281G>A | CA515717437 | NR0B1 | c.1083C>T (p.Ile361=) c.198C>T (p.Ile66=) | gnomAD v4 |
X | g.30308281G>C | CA412546596 | NR0B1 | c.1083C>G (p.Ile361Met) c.198C>G (p.Ile66Met) | COSMIC COSMIC |
X | g.30308281G>T | CA515717438 | NR0B1 | c.1083C>A (p.Ile361=) c.198C>A (p.Ile66=) | |
X | g.30308282A>C | CA412546605 | NR0B1 | c.1082T>G (p.Ile361Ser) c.197T>G (p.Ile66Ser) | ClinVar |
X | g.30308282A>G | CA412546607 | NR0B1 | c.1082T>C (p.Ile361Thr) c.197T>C (p.Ile66Thr) | |
X | g.30308282A>T | CA412546608 | NR0B1 | c.1082T>A (p.Ile361Asn) c.197T>A (p.Ile66Asn) | |
X | g.30308283T>A | CA412546617 | NR0B1 | c.1081A>T (p.Ile361Phe) c.196A>T (p.Ile66Phe) | |
X | g.30308283T>C | CA412546613 | NR0B1 | c.1081A>G (p.Ile361Val) c.196A>G (p.Ile66Val) | gnomAD v4 |
X | g.30308283T>G | CA412546614 | NR0B1 | c.1081A>C (p.Ile361Leu) c.196A>C (p.Ile66Leu) | |
X | g.30308284G>A | CA515717439 | NR0B1 | c.1080C>T (p.Ala360=) c.195C>T (p.Ala65=) | |
X | g.30308284G>C | CA515717440 | NR0B1 | c.1080C>G (p.Ala360=) c.195C>G (p.Ala65=) | |
X | g.30308284G>T | CA515717441 | NR0B1 | c.1080C>A (p.Ala360=) c.195C>A (p.Ala65=) | |
X | g.30308285G>A | CA412546623 | NR0B1 | c.1079C>T (p.Ala360Val) c.194C>T (p.Ala65Val) | |
X | g.30308285G>C | CA412546624 | NR0B1 | c.1079C>G (p.Ala360Gly) c.194C>G (p.Ala65Gly) | |
X | g.30308285G>T | CA412546626 | NR0B1 | c.1079C>A (p.Ala360Asp) c.194C>A (p.Ala65Asp) | |
X | g.30308286C>A | CA412546628 | NR0B1 | c.1078G>T (p.Ala360Ser) c.193G>T (p.Ala65Ser) | |
X | g.30308286C= | CA2422040386 | NR0B1 | c.1078G= (p.Ala360=) c.193G= (p.Ala65=) | |
X | g.30308286C>G | CA412546629 | NR0B1 | c.1078G>C (p.Ala360Pro) c.193G>C (p.Ala65Pro) | dbSNP |
X | g.30308286C>T | CA412546631 | NR0B1 | c.1078G>A (p.Ala360Thr) c.193G>A (p.Ala65Thr) | |
X | g.30308287T>A | CA412546636 | NR0B1 | c.1077A>T (p.Gln359His) c.192A>T (p.Gln64His) | |
X | g.30308287T>C | CA515717442 | NR0B1 | c.1077A>G (p.Gln359=) c.192A>G (p.Gln64=) | |
X | g.30308287T>G | CA412546634 | NR0B1 | c.1077A>C (p.Gln359His) c.192A>C (p.Gln64His) | |
X | g.30308288T>A | CA412546638 | NR0B1 | c.1076A>T (p.Gln359Leu) c.191A>T (p.Gln64Leu) | |
X | g.30308288T>C | CA412546640 | NR0B1 | c.1076A>G (p.Gln359Arg) c.191A>G (p.Gln64Arg) | |
X | g.30308288T>G | CA412546646 | NR0B1 | c.1076A>C (p.Gln359Pro) c.191A>C (p.Gln64Pro) | |
X | g.30308289G>A | CA327975821 | NR0B1 | c.1075C>T (p.Gln359Ter) c.190C>T (p.Gln64Ter) | dbSNP |
X | g.30308289G>C | CA412546652 | NR0B1 | c.1075C>G (p.Gln359Glu) c.190C>G (p.Gln64Glu) | |
X | g.30308289G= | CA2422040387 | NR0B1 | c.1075C= (p.Gln359=) c.190C= (p.Gln64=) | |
X | g.30308289G>T | CA412546654 | NR0B1 | c.1075C>A (p.Gln359Lys) c.190C>A (p.Gln64Lys) | |
X | g.30308290G>A | CA515717444 | NR0B1 | c.1074C>T (p.Val358=) c.189C>T (p.Val63=) | |
X | g.30308290G>C | CA515717445 | NR0B1 | c.1074C>G (p.Val358=) c.189C>G (p.Val63=) | |
X | g.30308290G>T | CA515717446 | NR0B1 | c.1074C>A (p.Val358=) c.189C>A (p.Val63=) | |
X | g.30308291A>C | CA412546658 | NR0B1 | c.1073T>G (p.Val358Gly) c.188T>G (p.Val63Gly) | |
X | g.30308291A>G | CA412546655 | NR0B1 | c.1073T>C (p.Val358Ala) c.188T>C (p.Val63Ala) | gnomAD v4 |
X | g.30308291A>T | CA412546656 | NR0B1 | c.1073T>A (p.Val358Asp) c.188T>A (p.Val63Asp) | |
X | g.30308292C>A | CA412546660 | NR0B1 | c.1072G>T (p.Val358Phe) c.187G>T (p.Val63Phe) | |
X | g.30308292C>G | CA412546661 | NR0B1 | c.1072G>C (p.Val358Leu) c.187G>C (p.Val63Leu) | |
X | g.30308292C>T | CA412546664 | NR0B1 | c.1072G>A (p.Val358Ile) c.187G>A (p.Val63Ile) | |
X | g.30308293C>A | CA412546667 | NR0B1 | c.1071G>T (p.Gln357His) c.186G>T (p.Gln62His) | dbSNP gnomAD v4 |
X | g.30308293C= | CA2422040388 | NR0B1 | c.1071G= (p.Gln357=) c.186G= (p.Gln62=) | |
X | g.30308293C>G | CA412546669 | NR0B1 | c.1071G>C (p.Gln357His) c.186G>C (p.Gln62His) | |
X | g.30308293C>T | CA515717448 | NR0B1 | c.1071G>A (p.Gln357=) c.186G>A (p.Gln62=) | gnomAD v4 |
X | g.30308294T>A | CA412546670 | NR0B1 | c.1070A>T (p.Gln357Leu) c.185A>T (p.Gln62Leu) | |
X | g.30308294T>C | CA412546672 | NR0B1 | c.1070A>G (p.Gln357Arg) c.185A>G (p.Gln62Arg) | gnomAD v4 |
X | g.30308294T>G | CA412546676 | NR0B1 | c.1070A>C (p.Gln357Pro) c.185A>C (p.Gln62Pro) | |
X | g.30308295G>A | CA412546677 | NR0B1 | c.1069C>T (p.Gln357Ter) c.184C>T (p.Gln62Ter) | |
X | g.30308295G>C | CA412546678 | NR0B1 | c.1069C>G (p.Gln357Glu) c.184C>G (p.Gln62Glu) | |
X | g.30308295G>T | CA412546679 | NR0B1 | c.1069C>A (p.Gln357Lys) c.184C>A (p.Gln62Lys) | COSMIC |
X | g.30308297del | CA2695200167 | NR0B1 | c.1069del (p.Gln357ArgfsTer15) c.184del (p.Gln62ArgfsTer15) | ClinVar |
X | g.30308296G>A | CA10376311 | NR0B1 | c.1068C>T (p.Ser356=) c.183C>T (p.Ser61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308296G>C | CA515717452 | NR0B1 | c.1068C>G (p.Ser356=) c.183C>G (p.Ser61=) | |
X | g.30308296G= | CA2422040389 | NR0B1 | c.1068C= (p.Ser356=) c.183C= (p.Ser61=) | |
X | g.30308296G>T | CA515717451 | NR0B1 | c.1068C>A (p.Ser356=) c.183C>A (p.Ser61=) | |
X | g.30308297G>A | CA10376312 | NR0B1 | c.1067C>T (p.Ser356Phe) c.182C>T (p.Ser61Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308297G>C | CA412546680 | NR0B1 | c.1067C>G (p.Ser356Cys) c.182C>G (p.Ser61Cys) | |
X | g.30308297G= | CA2422040390 | NR0B1 | c.1067C= (p.Ser356=) c.182C= (p.Ser61=) | |
X | g.30308297G>T | CA412546681 | NR0B1 | c.1067C>A (p.Ser356Tyr) c.182C>A (p.Ser61Tyr) | |
X | g.30308298A>C | CA412546682 | NR0B1 | c.1066T>G (p.Ser356Ala) c.181T>G (p.Ser61Ala) | |
X | g.30308298A>G | CA412546683 | NR0B1 | c.1066T>C (p.Ser356Pro) c.181T>C (p.Ser61Pro) | |
X | g.30308298A>T | CA412546684 | NR0B1 | c.1066T>A (p.Ser356Thr) c.181T>A (p.Ser61Thr) | |
X | g.30308299G>A | CA10376313 | NR0B1 | c.1065C>T (p.Ala355=) c.180C>T (p.Ala60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.30308299G>C | CA515717453 | NR0B1 | c.1065C>G (p.Ala355=) c.180C>G (p.Ala60=) | |
X | g.30308299G= | CA2422040391 | NR0B1 | c.1065C= (p.Ala355=) c.180C= (p.Ala60=) | |
X | g.30308299G>T | CA515717454 | NR0B1 | c.1065C>A (p.Ala355=) c.180C>A (p.Ala60=) | |
X | g.30308300G>A | CA412546685 | NR0B1 | c.1064C>T (p.Ala355Val) c.179C>T (p.Ala60Val) | |
X | g.30308300G>C | CA412546686 | NR0B1 | c.1064C>G (p.Ala355Gly) c.179C>G (p.Ala60Gly) | |
X | g.30308300G>T | CA412546687 | NR0B1 | c.1064C>A (p.Ala355Asp) c.179C>A (p.Ala60Asp) | |
X | g.30308301C>A | CA412546688 | NR0B1 | c.1063G>T (p.Ala355Ser) c.178G>T (p.Ala60Ser) | |
X | g.30308301C= | CA2422040392 | NR0B1 | c.1063G= (p.Ala355=) c.178G= (p.Ala60=) | |
X | g.30308301C>G | CA412546689 | NR0B1 | c.1063G>C (p.Ala355Pro) c.178G>C (p.Ala60Pro) | |
X | g.30308301C>T | CA10376314 | NR0B1 | c.1063G>A (p.Ala355Thr) c.178G>A (p.Ala60Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308302G>A | CA515717463 | NR0B1 | c.1062C>T (p.Ser354=) c.177C>T (p.Ser59=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.30308302G>C | CA515717465 | NR0B1 | c.1062C>G (p.Ser354=) c.177C>G (p.Ser59=) | ClinVar |
X | g.30308302G= | CA2422040393 | NR0B1 | c.1062C= (p.Ser354=) c.177C= (p.Ser59=) | |
X | g.30308302G>T | CA10376315 | NR0B1 | c.1062C>A (p.Ser354=) c.177C>A (p.Ser59=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.30308303del | CA2695232166 | NR0B1 | c.1062del (p.Ala355ProfsTer17) c.177del (p.Ala60ProfsTer17) | |
X | g.30308303G>A | CA412546690 | NR0B1 | c.1061C>T (p.Ser354Phe) c.176C>T (p.Ser59Phe) | |
X | g.30308303G>C | CA412546691 | NR0B1 | c.1061C>G (p.Ser354Cys) c.176C>G (p.Ser59Cys) | gnomAD v4 |
X | g.30308303G>T | CA412546692 | NR0B1 | c.1061C>A (p.Ser354Tyr) c.176C>A (p.Ser59Tyr) | |
X | g.30308304A>C | CA412546695 | NR0B1 | c.1060T>G (p.Ser354Ala) c.175T>G (p.Ser59Ala) | |
X | g.30308304A>G | CA412546694 | NR0B1 | c.1060T>C (p.Ser354Pro) c.175T>C (p.Ser59Pro) | |
X | g.30308304A>T | CA412546693 | NR0B1 | c.1060T>A (p.Ser354Thr) c.175T>A (p.Ser59Thr) | |
X | g.30308305G>A | CA515945850 | NR0B1 | c.1059C>T (p.Pro353=) c.174C>T (p.Pro58=) | gnomAD v4 |
X | g.30308305G>C | CA515945852 | NR0B1 | c.1059C>G (p.Pro353=) c.174C>G (p.Pro58=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308305G= | CA2422040394 | NR0B1 | c.1059C= (p.Pro353=) c.174C= (p.Pro58=) | |
X | g.30308305G>T | CA515945853 | NR0B1 | c.1059C>A (p.Pro353=) c.174C>A (p.Pro58=) | |
X | g.30308306_30308307del | CA2695232167 | NR0B1 | c.1058_1059del (p.Pro353LeufsTer?) c.173_174del (p.Pro58LeufsTer?) | |
X | g.30308306G>A | CA412546696 | NR0B1 | c.1058C>T (p.Pro353Leu) c.173C>T (p.Pro58Leu) | |
X | g.30308306G>C | CA412546697 | NR0B1 | c.1058C>G (p.Pro353Arg) c.173C>G (p.Pro58Arg) | |
X | g.30308306G>T | CA412546698 | NR0B1 | c.1058C>A (p.Pro353His) c.173C>A (p.Pro58His) | gnomAD v4 |
X | g.30308307G>A | CA412546700 | NR0B1 | c.1057C>T (p.Pro353Ser) c.172C>T (p.Pro58Ser) | gnomAD v4 |
X | g.30308307G>C | CA412546701 | NR0B1 | c.1057C>G (p.Pro353Ala) c.172C>G (p.Pro58Ala) | |
X | g.30308307G>T | CA412546702 | NR0B1 | c.1057C>A (p.Pro353Thr) c.172C>A (p.Pro58Thr) | |
X | g.30308308C>A | CA515945859 | NR0B1 | c.1056G>T (p.Val352=) c.171G>T (p.Val57=) | |
X | g.30308308C>G | CA515945861 | NR0B1 | c.1056G>C (p.Val352=) c.171G>C (p.Val57=) | |
X | g.30308308C>T | CA515945863 | NR0B1 | c.1056G>A (p.Val352=) c.171G>A (p.Val57=) | gnomAD v4 |
X | g.30308309A>C | CA412546703 | NR0B1 | c.1055T>G (p.Val352Gly) c.170T>G (p.Val57Gly) | |
X | g.30308309A>G | CA412546704 | NR0B1 | c.1055T>C (p.Val352Ala) c.170T>C (p.Val57Ala) | |
X | g.30308309A>T | CA412546705 | NR0B1 | c.1055T>A (p.Val352Glu) c.170T>A (p.Val57Glu) | |
X | g.30308310C>A | CA412546706 | NR0B1 | c.1054G>T (p.Val352Leu) c.169G>T (p.Val57Leu) | |
X | g.30308310C>G | CA412546713 | NR0B1 | c.1054G>C (p.Val352Leu) c.169G>C (p.Val57Leu) | |
X | g.30308310C>T | CA412546716 | NR0B1 | c.1054G>A (p.Val352Met) c.169G>A (p.Val57Met) | |
X | g.30308311C>A | CA412546718 | NR0B1 | c.1053G>T (p.Lys351Asn) c.168G>T (p.Lys56Asn) | |
X | g.30308311C>G | CA412546719 | NR0B1 | c.1053G>C (p.Lys351Asn) c.168G>C (p.Lys56Asn) | |
X | g.30308311C>T | CA515945871 | NR0B1 | c.1053G>A (p.Lys351=) c.168G>A (p.Lys56=) | gnomAD v4 |
X | g.30308312T>A | CA412546724 | NR0B1 | c.1052A>T (p.Lys351Met) c.167A>T (p.Lys56Met) | |
X | g.30308312T>C | CA412546726 | NR0B1 | c.1052A>G (p.Lys351Arg) c.167A>G (p.Lys56Arg) | |
X | g.30308312T>G | CA412546722 | NR0B1 | c.1052A>C (p.Lys351Thr) c.167A>C (p.Lys56Thr) | |
X | g.30308313T>A | CA412546728 | NR0B1 | c.1051A>T (p.Lys351Ter) c.166A>T (p.Lys56Ter) | |
X | g.30308313T>C | CA412546730 | NR0B1 | c.1051A>G (p.Lys351Glu) c.166A>G (p.Lys56Glu) | |
X | g.30308313T>G | CA412546731 | NR0B1 | c.1051A>C (p.Lys351Gln) c.166A>C (p.Lys56Gln) | |
X | g.30308314C>A | CA412546733 | NR0B1 | c.1050G>T (p.Arg350Ser) c.165G>T (p.Arg55Ser) | |
X | g.30308314C= | CA2422040395 | NR0B1 | c.1050G= (p.Arg350=) c.165G= (p.Arg55=) | |
X | g.30308314C>G | CA412546735 | NR0B1 | c.1050G>C (p.Arg350Ser) c.165G>C (p.Arg55Ser) | |
X | g.30308314C>T | CA515945876 | NR0B1 | c.1050G>A (p.Arg350=) c.165G>A (p.Arg55=) | dbSNP |
X | g.30308315C>A | CA412546737 | NR0B1 | c.1049G>T (p.Arg350Met) c.164G>T (p.Arg55Met) | |
X | g.30308315C>G | CA412546740 | NR0B1 | c.1049G>C (p.Arg350Thr) c.164G>C (p.Arg55Thr) | |
X | g.30308315C>T | CA412546741 | NR0B1 | c.1049G>A (p.Arg350Lys) c.164G>A (p.Arg55Lys) | |
X | g.30308315_30308316del | CA2548635674 | NR0B1 | c.1048_1049del (p.Arg350GlufsTer?) c.163_164del (p.Arg55GlufsTer?) | |
X | g.30308316T>A | CA412546743 | NR0B1 | c.1048A>T (p.Arg350Trp) c.163A>T (p.Arg55Trp) | |
X | g.30308316T>C | CA412546745 | NR0B1 | c.1048A>G (p.Arg350Gly) c.163A>G (p.Arg55Gly) | |
X | g.30308316T>G | CA515945878 | NR0B1 | c.1048A>C (p.Arg350=) c.163A>C (p.Arg55=) | |
X | g.30308317G>A | CA515945882 | NR0B1 | c.1047C>T (p.Ala349=) c.162C>T (p.Ala54=) | gnomAD v4 |
X | g.30308317G>C | CA515945881 | NR0B1 | c.1047C>G (p.Ala349=) c.162C>G (p.Ala54=) | |
X | g.30308317G>T | CA515945880 | NR0B1 | c.1047C>A (p.Ala349=) c.162C>A (p.Ala54=) | COSMIC COSMIC |
X | g.30308319_30308331del | CA2695232168 | NR0B1 | c.1035_1047del (p.Pro346GlyfsTer22) c.150_162del (p.Pro51GlyfsTer22) | |
X | g.30308318G>A | CA412546748 | NR0B1 | c.1046C>T (p.Ala349Val) c.161C>T (p.Ala54Val) | dbSNP gnomAD v4 |
X | g.30308318G>C | CA412546750 | NR0B1 | c.1046C>G (p.Ala349Gly) c.161C>G (p.Ala54Gly) | |
X | g.30308318G= | CA2422040396 | NR0B1 | c.1046C= (p.Ala349=) c.161C= (p.Ala54=) | |
X | g.30308318G>T | CA412546751 | NR0B1 | c.1046C>A (p.Ala349Asp) c.161C>A (p.Ala54Asp) | |
X | g.30308319C>A | CA412546757 | NR0B1 | c.1045G>T (p.Ala349Ser) c.160G>T (p.Ala54Ser) | gnomAD v4 |
X | g.30308319C>G | CA412546754 | NR0B1 | c.1045G>C (p.Ala349Pro) c.160G>C (p.Ala54Pro) | |
X | g.30308319C>T | CA412546756 | NR0B1 | c.1045G>A (p.Ala349Thr) c.160G>A (p.Ala54Thr) | |
X | g.30308320C>A | CA412546759 | NR0B1 | c.1044G>T (p.Glu348Asp) c.159G>T (p.Glu53Asp) | dbSNP |
X | g.30308320C= | CA2422040397 | NR0B1 | c.1044G= (p.Glu348=) c.159G= (p.Glu53=) | |
X | g.30308320C>G | CA412546768 | NR0B1 | c.1044G>C (p.Glu348Asp) c.159G>C (p.Glu53Asp) | |
X | g.30308320C>T | CA515945887 | NR0B1 | c.1044G>A (p.Glu348=) c.159G>A (p.Glu53=) | gnomAD v4 |
X | g.30308321T>A | CA412546771 | NR0B1 | c.1043A>T (p.Glu348Val) c.158A>T (p.Glu53Val) | |
X | g.30308321T>C | CA412546773 | NR0B1 | c.1043A>G (p.Glu348Gly) c.158A>G (p.Glu53Gly) | |
X | g.30308321T>G | CA412546774 | NR0B1 | c.1043A>C (p.Glu348Ala) c.158A>C (p.Glu53Ala) | |
X | g.30308321_30308322delinsTC | CA2422040398 | NR0B1 | c.1042_1043delinsGA (p.Glu348=) c.157_158delinsGA (p.Glu53=) | |
X | g.30308322C>A | CA412546780 | NR0B1 | c.1042G>T (p.Glu348Ter) c.157G>T (p.Glu53Ter) | |
X | g.30308322C>G | CA412546782 | NR0B1 | c.1042G>C (p.Glu348Gln) c.157G>C (p.Glu53Gln) | |
X | g.30308322C>T | CA412546784 | NR0B1 | c.1042G>A (p.Glu348Lys) c.157G>A (p.Glu53Lys) | |
X | g.30308323del | CA916083874 | NR0B1 | c.1042del (p.Glu348ArgfsTer24) c.157del (p.Glu53ArgfsTer24) | ClinVar dbSNP |
X | g.30308323C>A | CA515945893 | NR0B1 | c.1041G>T (p.Ala347=) c.156G>T (p.Ala52=) | |
X | g.30308323C>G | CA515945896 | NR0B1 | c.1041G>C (p.Ala347=) c.156G>C (p.Ala52=) | |
X | g.30308323C>T | CA515945895 | NR0B1 | c.1041G>A (p.Ala347=) c.156G>A (p.Ala52=) | |
X | g.30308324G>A | CA412546787 | NR0B1 | c.1040C>T (p.Ala347Val) c.155C>T (p.Ala52Val) | |
X | g.30308324G>C | CA327975849 | NR0B1 | c.1040C>G (p.Ala347Gly) c.155C>G (p.Ala52Gly) | dbSNP |
X | g.30308324G= | CA2422040399 | NR0B1 | c.1040C= (p.Ala347=) c.155C= (p.Ala52=) | |
X | g.30308324G>T | CA10376316 | NR0B1 | c.1040C>A (p.Ala347Glu) c.155C>A (p.Ala52Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |