UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308610_30308618del | CA2529980778 | NR0B1 | c.748_756del (p.Ser250_Gln252del) | |
| X | g.30308617_30308619delinsCTT | CA2422040498 | NR0B1 | c.745_747delinsAAG (p.Lys249=) | |
| X | g.30308618T>A | CA412547977 | NR0B1 | c.746A>T (p.Lys249Met) | |
| X | g.30308618T>C | CA412547976 | NR0B1 | c.746A>G (p.Lys249Arg) | |
| X | g.30308618T>G | CA412547975 | NR0B1 | c.746A>C (p.Lys249Thr) | |
| X | g.30308618_30308619del | CA16621356 | NR0B1 | c.745_746del (p.Lys249GlufsTer?) | ClinVar dbSNP |
| X | g.30308619T>A | CA412547978 | NR0B1 | c.745A>T (p.Lys249Ter) | |
| X | g.30308619T>C | CA412547979 | NR0B1 | c.745A>G (p.Lys249Glu) | gnomAD v4 |
| X | g.30308619T>G | CA412547980 | NR0B1 | c.745A>C (p.Lys249Gln) | |
| X | g.30308620G>A | CA515946182 | NR0B1 | c.744C>T (p.Leu248=) | |
| X | g.30308620G>C | CA515946183 | NR0B1 | c.744C>G (p.Leu248=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308620G= | CA2422040499 | NR0B1 | c.744C= (p.Leu248=) | |
| X | g.30308620G>T | CA515946184 | NR0B1 | c.744C>A (p.Leu248=) | |
| X | g.30308621A= | CA2422040500 | NR0B1 | c.743T= (p.Leu248=) | |
| X | g.30308621A>C | CA412547981 | NR0B1 | c.743T>G (p.Leu248Arg) | gnomAD v4 |
| X | g.30308621A>G | CA412547982 | NR0B1 | c.743T>C (p.Leu248Pro) | dbSNP |
| X | g.30308621A>T | CA412547983 | NR0B1 | c.743T>A (p.Leu248His) | |
| X | g.30308622G>A | CA412547984 | NR0B1 | c.742C>T (p.Leu248Phe) | |
| X | g.30308622G>C | CA412547985 | NR0B1 | c.742C>G (p.Leu248Val) | |
| X | g.30308622G>T | CA412547986 | NR0B1 | c.742C>A (p.Leu248Ile) | |
| X | g.30308623C>A | CA515946189 | NR0B1 | c.741G>T (p.Ala247=) | |
| X | g.30308623C>G | CA515946190 | NR0B1 | c.741G>C (p.Ala247=) | |
| X | g.30308623C>T | CA515946193 | NR0B1 | c.741G>A (p.Ala247=) | |
| X | g.30308624G>A | CA10376357 | NR0B1 | c.740C>T (p.Ala247Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308624G>C | CA412547987 | NR0B1 | c.740C>G (p.Ala247Gly) | |
| X | g.30308624G= | CA2422040501 | NR0B1 | c.740C= (p.Ala247=) | |
| X | g.30308624G>T | CA412547988 | NR0B1 | c.740C>A (p.Ala247Glu) | ClinVar gnomAD v4 |
| X | g.30308627_30308633del | CA2695232199 | NR0B1 | c.734_740del (p.Pro245ArgfsTer17) | |
| X | g.30308625C>A | CA412547991 | NR0B1 | c.739G>T (p.Ala247Ser) | |
| X | g.30308625C>G | CA412547989 | NR0B1 | c.739G>C (p.Ala247Pro) | |
| X | g.30308625C>T | CA412547990 | NR0B1 | c.739G>A (p.Ala247Thr) | |
| X | g.30308626C>A | CA515946201 | NR0B1 | c.738G>T (p.Val246=) | |
| X | g.30308626C= | CA2422040502 | NR0B1 | c.738G= (p.Val246=) | |
| X | g.30308626C>G | CA515946196 | NR0B1 | c.738G>C (p.Val246=) | |
| X | g.30308626C>T | CA515946195 | NR0B1 | c.738G>A (p.Val246=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308627A>C | CA412547992 | NR0B1 | c.737T>G (p.Val246Gly) | |
| X | g.30308627A>G | CA412547993 | NR0B1 | c.737T>C (p.Val246Ala) | |
| X | g.30308627A>T | CA412547994 | NR0B1 | c.737T>A (p.Val246Glu) | |
| X | g.30308628C>A | CA412547995 | NR0B1 | c.736G>T (p.Val246Leu) | |
| X | g.30308628C>G | CA412547996 | NR0B1 | c.736G>C (p.Val246Leu) | |
| X | g.30308628C>T | CA412547997 | NR0B1 | c.736G>A (p.Val246Met) | |
| X | g.30308629C>A | CA515946207 | NR0B1 | c.735G>T (p.Pro245=) | gnomAD v4 |
| X | g.30308629C= | CA2422040503 | NR0B1 | c.735G= (p.Pro245=) | |
| X | g.30308629C>G | CA327976047 | NR0B1 | c.735G>C (p.Pro245=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308629C>T | CA515946206 | NR0B1 | c.735G>A (p.Pro245=) | ClinVar gnomAD v4 COSMIC COSMIC |
| X | g.30308629_30308630insAGA | CA2693386447 | NR0B1 | c.734_735insTCT (p.Pro245_Val246insLeu) | gnomAD v4 |
| X | g.30308630G>A | CA412547998 | NR0B1 | c.734C>T (p.Pro245Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308630G>C | CA412547999 | NR0B1 | c.734C>G (p.Pro245Arg) | dbSNP gnomAD v4 |
| X | g.30308630G= | CA2422040504 | NR0B1 | c.734C= (p.Pro245=) | |
| X | g.30308630G>T | CA412548000 | NR0B1 | c.734C>A (p.Pro245Gln) | |
| X | g.30308631G>A | CA412548001 | NR0B1 | c.733C>T (p.Pro245Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308631G>C | CA412548002 | NR0B1 | c.733C>G (p.Pro245Ala) | |
| X | g.30308631G= | CA2422040505 | NR0B1 | c.733C= (p.Pro245=) | |
| X | g.30308631G>T | CA412548003 | NR0B1 | c.733C>A (p.Pro245Thr) | |
| X | g.30308632C>A | CA515946213 | NR0B1 | c.732G>T (p.Arg244=) | dbSNP gnomAD v2 |
| X | g.30308632C= | CA2422040506 | NR0B1 | c.732G= (p.Arg244=) | |
| X | g.30308632C>G | CA515946216 | NR0B1 | c.732G>C (p.Arg244=) | |
| X | g.30308632C>T | CA515946215 | NR0B1 | c.732G>A (p.Arg244=) | |
| X | g.30308633del | CA2695232200 | NR0B1 | c.732del (p.Pro245ArgfsTer19) | |
| X | g.30308632_30308635del | CA2693386448 | NR0B1 | c.729_732del (p.Pro245TrpfsTer18) | gnomAD v4 |
| X | g.30308633C>A | CA412548006 | NR0B1 | c.731G>T (p.Arg244Leu) | COSMIC COSMIC |
| X | g.30308633C= | CA2422040507 | NR0B1 | c.731G= (p.Arg244=) | |
| X | g.30308633C>G | CA412548005 | NR0B1 | c.731G>C (p.Arg244Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308633C>T | CA412548004 | NR0B1 | c.731G>A (p.Arg244Gln) | |
| X | g.30308634G>A | CA412548008 | NR0B1 | c.730C>T (p.Arg244Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.30308634G>C | CA412548007 | NR0B1 | c.730C>G (p.Arg244Gly) | |
| X | g.30308634G= | CA2422040508 | NR0B1 | c.730C= (p.Arg244=) | |
| X | g.30308634G>T | CA515946219 | NR0B1 | c.730C>A (p.Arg244=) | |
| X | g.30308635C>A | CA515946221 | NR0B1 | c.729G>T (p.Leu243=) | |
| X | g.30308635C>G | CA515946222 | NR0B1 | c.729G>C (p.Leu243=) | |
| X | g.30308635C>T | CA515946223 | NR0B1 | c.729G>A (p.Leu243=) | |
| X | g.30308636A= | CA2422040509 | NR0B1 | c.728T= (p.Leu243=) | |
| X | g.30308636A>C | CA412548011 | NR0B1 | c.728T>G (p.Leu243Arg) | gnomAD v4 |
| X | g.30308636A>G | CA412548009 | NR0B1 | c.728T>C (p.Leu243Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308636A>T | CA412548010 | NR0B1 | c.728T>A (p.Leu243Gln) | |
| X | g.30308637G>A | CA515946229 | NR0B1 | c.727C>T (p.Leu243=) | |
| X | g.30308637G>C | CA412548012 | NR0B1 | c.727C>G (p.Leu243Val) | |
| X | g.30308637G>T | CA412548013 | NR0B1 | c.727C>A (p.Leu243Met) | |
| X | g.30308637dup | CA2693386449 | NR0B1 | c.727dup (p.Leu243ProfsTer?) | gnomAD v4 |
| X | g.30308638C>A | CA515946233 | NR0B1 | c.726G>T (p.Ala242=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308638C= | CA2422040510 | NR0B1 | c.726G= (p.Ala242=) | |
| X | g.30308638C>G | CA515946234 | NR0B1 | c.726G>C (p.Ala242=) | dbSNP |
| X | g.30308638C>T | CA10376358 | NR0B1 | c.726G>A (p.Ala242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308638dup | CA2741740224 | NR0B1 | c.726dup (p.Leu243AlafsTer?) | |
| X | g.30308639G>A | CA10376359 | NR0B1 | c.725C>T (p.Ala242Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308639G>C | CA412548014 | NR0B1 | c.725C>G (p.Ala242Gly) | |
| X | g.30308639G= | CA2422040511 | NR0B1 | c.725C= (p.Ala242=) | |
| X | g.30308639G>T | CA412548015 | NR0B1 | c.725C>A (p.Ala242Glu) | dbSNP gnomAD v4 |
| X | g.30308640C>A | CA412548016 | NR0B1 | c.724G>T (p.Ala242Ser) | gnomAD v4 COSMIC COSMIC |
| X | g.30308640C>G | CA412548017 | NR0B1 | c.724G>C (p.Ala242Pro) | |
| X | g.30308640C>T | CA412548018 | NR0B1 | c.724G>A (p.Ala242Thr) | gnomAD v4 |
| X | g.30308640_30308641insCATACCGGGCATCTGCATACCACCGGGCATGCCGGGCATCTTGCCCGAAGCGAGCTTCTTCATCATCTTCTGAGCCTGAGCGAAACGCTCCATCAGCTGGTTCACCTCAGACACGGTC | CA2741740225 | NR0B1 | c.724_725insACCGTGTCTGAGGTGAACCAGCTGATGGAGCGTTTCGCTCAGGCTCAGAAGATGATGAAGAAGCTCGCTTCGGGCAAGATGCCCGGCATGCCCGGTGGTATGCAGATGCCCGGTATGG (p.Ala242AspfsTer4) | |
| X | g.30308641A>C | CA515946241 | NR0B1 | c.723T>G (p.Gly241=) | |
| X | g.30308641A>G | CA515946242 | NR0B1 | c.723T>C (p.Gly241=) | ClinVar |
| X | g.30308641A>T | CA515946243 | NR0B1 | c.723T>A (p.Gly241=) | |
| X | g.30308642C>A | CA327976050 | NR0B1 | c.722G>T (p.Gly241Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308642C= | CA2422040512 | NR0B1 | c.722G= (p.Gly241=) | |
| X | g.30308642C>G | CA412548020 | NR0B1 | c.722G>C (p.Gly241Ala) | |
| X | g.30308642C>T | CA412548019 | NR0B1 | c.722G>A (p.Gly241Asp) | |
| X | g.30308643C>A | CA412548021 | NR0B1 | c.721G>T (p.Gly241Cys) | |
| X | g.30308643C>G | CA412548022 | NR0B1 | c.721G>C (p.Gly241Arg) | |
| X | g.30308643C>T | CA412548023 | NR0B1 | c.721G>A (p.Gly241Ser) | |
| X | g.30308644A>C | CA515946250 | NR0B1 | c.720T>G (p.Ser240=) | |
| X | g.30308644A>G | CA515946252 | NR0B1 | c.720T>C (p.Ser240=) | |
| X | g.30308644A>T | CA515946255 | NR0B1 | c.720T>A (p.Ser240=) | |
| X | g.30308645G>A | CA412548024 | NR0B1 | c.719C>T (p.Ser240Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308645G>C | CA412548025 | NR0B1 | c.719C>G (p.Ser240Cys) | |
| X | g.30308645G= | CA2422040513 | NR0B1 | c.719C= (p.Ser240=) | |
| X | g.30308645G>T | CA412548026 | NR0B1 | c.719C>A (p.Ser240Tyr) | |
| X | g.30308646A>C | CA412548027 | NR0B1 | c.718T>G (p.Ser240Ala) | |
| X | g.30308646A>G | CA412548028 | NR0B1 | c.718T>C (p.Ser240Pro) | gnomAD v4 |
| X | g.30308646A>T | CA412548029 | NR0B1 | c.718T>A (p.Ser240Thr) | |
| X | g.30308647G>A | CA515946264 | NR0B1 | c.717C>T (p.Ser239=) | |
| X | g.30308647G>C | CA515946265 | NR0B1 | c.717C>G (p.Ser239=) | |
| X | g.30308647G>T | CA515946263 | NR0B1 | c.717C>A (p.Ser239=) | gnomAD v4 |
| X | g.30308648G>A | CA412548030 | NR0B1 | c.716C>T (p.Ser239Phe) | dbSNP gnomAD v4 |
| X | g.30308648G>C | CA412548031 | NR0B1 | c.716C>G (p.Ser239Cys) | |
| X | g.30308648G= | CA2422040514 | NR0B1 | c.716C= (p.Ser239=) | |
| X | g.30308648G>T | CA412548032 | NR0B1 | c.716C>A (p.Ser239Tyr) | gnomAD v4 |
| X | g.30308649A>C | CA412548034 | NR0B1 | c.715T>G (p.Ser239Ala) | gnomAD v4 |
| X | g.30308649A>G | CA412548035 | NR0B1 | c.715T>C (p.Ser239Pro) | |
| X | g.30308649A>T | CA412548033 | NR0B1 | c.715T>A (p.Ser239Thr) | |
| X | g.30308650G>A | CA515946280 | NR0B1 | c.714C>T (p.Thr238=) | |
| X | g.30308650G>C | CA515946275 | NR0B1 | c.714C>G (p.Thr238=) | |
| X | g.30308650G>T | CA515946277 | NR0B1 | c.714C>A (p.Thr238=) | |
| X | g.30308651G>A | CA412548036 | NR0B1 | c.713C>T (p.Thr238Ile) | gnomAD v4 |
| X | g.30308651G>C | CA412548037 | NR0B1 | c.713C>G (p.Thr238Ser) | |
| X | g.30308651G>T | CA412548038 | NR0B1 | c.713C>A (p.Thr238Asn) | dbSNP gnomAD v4 |
| X | g.30308652T>A | CA10376360 | NR0B1 | c.712A>T (p.Thr238Ser) | dbSNP ExAC gnomAD v2 |
| X | g.30308652T>C | CA412548039 | NR0B1 | c.712A>G (p.Thr238Ala) | |
| X | g.30308652T>G | CA412548040 | NR0B1 | c.712A>C (p.Thr238Pro) | |
| X | g.30308652T= | CA2422040515 | NR0B1 | c.712A= (p.Thr238=) | |
| X | g.30308653G>A | CA515946292 | NR0B1 | c.711C>T (p.Asp237=) | gnomAD v4 |
| X | g.30308653G>C | CA412548042 | NR0B1 | c.711C>G (p.Asp237Glu) | |
| X | g.30308653G>T | CA412548041 | NR0B1 | c.711C>A (p.Asp237Glu) | gnomAD v4 |
| X | g.30308654T>A | CA10376361 | NR0B1 | c.710A>T (p.Asp237Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308654T>C | CA412548043 | NR0B1 | c.710A>G (p.Asp237Gly) | COSMIC COSMIC |
| X | g.30308654T>G | CA412548044 | NR0B1 | c.710A>C (p.Asp237Ala) | |
| X | g.30308654T= | CA2422040516 | NR0B1 | c.710A= (p.Asp237=) | |
| X | g.30308655C>A | CA412548045 | NR0B1 | c.709G>T (p.Asp237Tyr) | |
| X | g.30308655C= | CA2422040517 | NR0B1 | c.709G= (p.Asp237=) | |
| X | g.30308655C>G | CA412548046 | NR0B1 | c.709G>C (p.Asp237His) | |
| X | g.30308655C>T | CA412548047 | NR0B1 | c.709G>A (p.Asp237Asn) | dbSNP |
| X | g.30308656C>A | CA412548048 | NR0B1 | c.708G>T (p.Trp236Cys) | |
| X | g.30308656C= | CA2422040518 | NR0B1 | c.708G= (p.Trp236=) | |
| X | g.30308656C>G | CA412548050 | NR0B1 | c.708G>C (p.Trp236Cys) | |
| X | g.30308656C>T | CA412548049 | NR0B1 | c.708G>A (p.Trp236Ter) | ClinVar dbSNP |
| X | g.30308657C>A | CA412548051 | NR0B1 | c.707G>T (p.Trp236Leu) | gnomAD v4 |
| X | g.30308657C>G | CA412548052 | NR0B1 | c.707G>C (p.Trp236Ser) | |
| X | g.30308657C>T | CA412548053 | NR0B1 | c.707G>A (p.Trp236Ter) | |
| X | g.30308658A>C | CA412548054 | NR0B1 | c.706T>G (p.Trp236Gly) | |
| X | g.30308658A>G | CA412548055 | NR0B1 | c.706T>C (p.Trp236Arg) | |
| X | g.30308658A>T | CA412548056 | NR0B1 | c.706T>A (p.Trp236Arg) | |
| X | g.30308659C>A | CA412548057 | NR0B1 | c.705G>T (p.Trp235Cys) | |
| X | g.30308659C>G | CA412548058 | NR0B1 | c.705G>C (p.Trp235Cys) | |
| X | g.30308659C>T | CA412548059 | NR0B1 | c.705G>A (p.Trp235Ter) | |
| X | g.30308660C>A | CA412548060 | NR0B1 | c.704G>T (p.Trp235Leu) | dbSNP |
| X | g.30308660C= | CA2422040519 | NR0B1 | c.704G= (p.Trp235=) | |
| X | g.30308660C>G | CA412548061 | NR0B1 | c.704G>C (p.Trp235Ser) | |
| X | g.30308660C>T | CA255622 | NR0B1 | c.704G>A (p.Trp235Ter) | ClinVar dbSNP |
| X | g.30308661A>C | CA412548063 | NR0B1 | c.703T>G (p.Trp235Gly) | |
| X | g.30308661A>G | CA412548064 | NR0B1 | c.703T>C (p.Trp235Arg) | |
| X | g.30308661A>T | CA412548062 | NR0B1 | c.703T>A (p.Trp235Arg) | |
| X | g.30308661_30308662delinsAG | CA2422040520 | NR0B1 | c.702_703delinsCT (p.Pro234=) | |
| X | g.30308662G>A | CA515946320 | NR0B1 | c.702C>T (p.Pro234=) | ClinVar dbSNP gnomAD v2 |
| X | g.30308662G>C | CA515946322 | NR0B1 | c.702C>G (p.Pro234=) | |
| X | g.30308662G= | CA2422040521 | NR0B1 | c.702C= (p.Pro234=) | |
| X | g.30308662G>T | CA515946324 | NR0B1 | c.702C>A (p.Pro234=) | |
| X | g.30308666del | CA645603422 | NR0B1 | c.702del (p.Trp235GlyfsTer29) | ClinVar dbSNP COSMIC COSMIC |
| X | g.30308663G>A | CA412548065 | NR0B1 | c.701C>T (p.Pro234Leu) | gnomAD v4 |
| X | g.30308663G>C | CA412548067 | NR0B1 | c.701C>G (p.Pro234Arg) | gnomAD v4 |
| X | g.30308663G= | CA2422040522 | NR0B1 | c.701C= (p.Pro234=) | |
| X | g.30308663G>T | CA412548066 | NR0B1 | c.701C>A (p.Pro234His) | dbSNP gnomAD v2 |
| X | g.30308664G>A | CA412548068 | NR0B1 | c.700C>T (p.Pro234Ser) | gnomAD v4 COSMIC COSMIC |
| X | g.30308664G>C | CA412548069 | NR0B1 | c.700C>G (p.Pro234Ala) | gnomAD v4 |
| X | g.30308664G>T | CA412548070 | NR0B1 | c.700C>A (p.Pro234Thr) | |
| X | g.30308665G>A | CA515946331 | NR0B1 | c.699C>T (p.Ala233=) | ClinVar |
| X | g.30308665G>C | CA515946333 | NR0B1 | c.699C>G (p.Ala233=) | |
| X | g.30308665G>T | CA515946334 | NR0B1 | c.699C>A (p.Ala233=) | gnomAD v4 |
| X | g.30308666G>A | CA10376362 | NR0B1 | c.698C>T (p.Ala233Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308666G>C | CA412548071 | NR0B1 | c.698C>G (p.Ala233Gly) | |
| X | g.30308666G= | CA2422040523 | NR0B1 | c.698C= (p.Ala233=) | |
| X | g.30308666G>T | CA412548072 | NR0B1 | c.698C>A (p.Ala233Asp) | |
| X | g.30308667C>A | CA412548073 | NR0B1 | c.697G>T (p.Ala233Ser) | dbSNP |
| X | g.30308667C= | CA2422040524 | NR0B1 | c.697G= (p.Ala233=) | |
| X | g.30308667C>G | CA412548074 | NR0B1 | c.697G>C (p.Ala233Pro) | |
| X | g.30308667C>T | CA10376363 | NR0B1 | c.697G>A (p.Ala233Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308668C>A | CA412548075 | NR0B1 | c.696G>T (p.Arg232Ser) | |
| X | g.30308668C>G | CA412548076 | NR0B1 | c.696G>C (p.Arg232Ser) | |
| X | g.30308668C>T | CA515946341 | NR0B1 | c.696G>A (p.Arg232=) | ClinVar |
| X | g.30308669C>A | CA412548079 | NR0B1 | c.695G>T (p.Arg232Met) | |
| X | g.30308669C>G | CA412548078 | NR0B1 | c.695G>C (p.Arg232Thr) | |
| X | g.30308669C>T | CA412548077 | NR0B1 | c.695G>A (p.Arg232Lys) | gnomAD v4 |
| X | g.30308670T>A | CA412548080 | NR0B1 | c.694A>T (p.Arg232Trp) | |
| X | g.30308670T>C | CA412548081 | NR0B1 | c.694A>G (p.Arg232Gly) | |
| X | g.30308670T>G | CA515946344 | NR0B1 | c.694A>C (p.Arg232=) | gnomAD v4 |
| X | g.30308671C>A | CA515946345 | NR0B1 | c.693G>T (p.Pro231=) | |
| X | g.30308671C>G | CA515946346 | NR0B1 | c.693G>C (p.Pro231=) | gnomAD v4 |
| X | g.30308671C>T | CA515946347 | NR0B1 | c.693G>A (p.Pro231=) | ClinVar |
| X | g.30308672G>A | CA412548082 | NR0B1 | c.692C>T (p.Pro231Leu) | |
| X | g.30308672G>C | CA412548083 | NR0B1 | c.692C>G (p.Pro231Arg) | |
| X | g.30308672G>T | CA412548084 | NR0B1 | c.692C>A (p.Pro231Gln) | |
| X | g.30308673G>A | CA412548085 | NR0B1 | c.691C>T (p.Pro231Ser) | dbSNP |
| X | g.30308673G>C | CA412548086 | NR0B1 | c.691C>G (p.Pro231Ala) | |
| X | g.30308673G= | CA2422040525 | NR0B1 | c.691C= (p.Pro231=) | |
| X | g.30308673G>T | CA412548087 | NR0B1 | c.691C>A (p.Pro231Thr) | |
| X | g.30308674C>A | CA515946352 | NR0B1 | c.690G>T (p.Arg230=) | |
| X | g.30308674C>G | CA515946353 | NR0B1 | c.690G>C (p.Arg230=) | ClinVar gnomAD v4 |
| X | g.30308674C>T | CA515946354 | NR0B1 | c.690G>A (p.Arg230=) | gnomAD v4 |
| X | g.30308675C>A | CA412548088 | NR0B1 | c.689G>T (p.Arg230Leu) | |
| X | g.30308675C>G | CA412548089 | NR0B1 | c.689G>C (p.Arg230Pro) | |
| X | g.30308675C>T | CA412548090 | NR0B1 | c.689G>A (p.Arg230Gln) | ClinVar COSMIC COSMIC |
| X | g.30308676G>A | CA412548091 | NR0B1 | c.688C>T (p.Arg230Trp) | gnomAD v4 COSMIC COSMIC |
| X | g.30308676G>C | CA412548092 | NR0B1 | c.688C>G (p.Arg230Gly) | gnomAD v4 |
| X | g.30308676G= | CA2422040526 | NR0B1 | c.688C= (p.Arg230=) | |
| X | g.30308676G>T | CA515946359 | NR0B1 | c.688C>A (p.Arg230=) | dbSNP gnomAD v4 |
| X | g.30308677C>A | CA412548094 | NR0B1 | c.687G>T (p.Glu229Asp) | |
| X | g.30308677C>G | CA412548093 | NR0B1 | c.687G>C (p.Glu229Asp) | |
| X | g.30308677C>T | CA515946361 | NR0B1 | c.687G>A (p.Glu229=) | |
| X | g.30308678T>A | CA412548095 | NR0B1 | c.686A>T (p.Glu229Val) | |
| X | g.30308678T>C | CA412548096 | NR0B1 | c.686A>G (p.Glu229Gly) | gnomAD v4 |
| X | g.30308678T>G | CA412548097 | NR0B1 | c.686A>C (p.Glu229Ala) | |
| X | g.30308679C>A | CA412548098 | NR0B1 | c.685G>T (p.Glu229Ter) | gnomAD v4 |
| X | g.30308679C= | CA2422040527 | NR0B1 | c.685G= (p.Glu229=) | |
| X | g.30308679C>G | CA412548099 | NR0B1 | c.685G>C (p.Glu229Gln) | |
| X | g.30308679C>T | CA412548100 | NR0B1 | c.685G>A (p.Glu229Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308680C>A | CA412548102 | NR0B1 | c.684G>T (p.Glu228Asp) | gnomAD v4 |
| X | g.30308680C= | CA2422040528 | NR0B1 | c.684G= (p.Glu228=) | |
| X | g.30308680C>G | CA412548101 | NR0B1 | c.684G>C (p.Glu228Asp) | |
| X | g.30308680C>T | CA515946374 | NR0B1 | c.684G>A (p.Glu228=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308681T>A | CA412548103 | NR0B1 | c.683A>T (p.Glu228Val) | |
| X | g.30308681T>C | CA412548104 | NR0B1 | c.683A>G (p.Glu228Gly) | dbSNP gnomAD v4 |
| X | g.30308681T>G | CA327976078 | NR0B1 | c.683A>C (p.Glu228Ala) | dbSNP |
| X | g.30308681T= | CA2422040529 | NR0B1 | c.683A= (p.Glu228=) | |
| X | g.30308682C>A | CA412548105 | NR0B1 | c.682G>T (p.Glu228Ter) | |
| X | g.30308682C>G | CA412548106 | NR0B1 | c.682G>C (p.Glu228Gln) | |
| X | g.30308682C>T | CA412548107 | NR0B1 | c.682G>A (p.Glu228Lys) | |
| X | g.30308683C>A | CA515946381 | NR0B1 | c.681G>T (p.Pro227=) | gnomAD v4 |
| X | g.30308683C>G | CA515946384 | NR0B1 | c.681G>C (p.Pro227=) | |
| X | g.30308683C>T | CA515946385 | NR0B1 | c.681G>A (p.Pro227=) | gnomAD v4 COSMIC COSMIC |
| X | g.30308684G>A | CA10376364 | NR0B1 | c.680C>T (p.Pro227Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308684G>C | CA412548108 | NR0B1 | c.680C>G (p.Pro227Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308684G= | CA2422040530 | NR0B1 | c.680C= (p.Pro227=) | |
| X | g.30308684G>T | CA412548109 | NR0B1 | c.680C>A (p.Pro227Gln) | dbSNP |
| X | g.30308685G>A | CA412548110 | NR0B1 | c.679C>T (p.Pro227Ser) | |
| X | g.30308685G>C | CA412548111 | NR0B1 | c.679C>G (p.Pro227Ala) | |
| X | g.30308685G>T | CA412548112 | NR0B1 | c.679C>A (p.Pro227Thr) | |
| X | g.30308686A>C | CA515946389 | NR0B1 | c.678T>G (p.Ala226=) | |
| X | g.30308686A>G | CA515946390 | NR0B1 | c.678T>C (p.Ala226=) | |
| X | g.30308686A>T | CA515946391 | NR0B1 | c.678T>A (p.Ala226=) | |
| X | g.30308687G>A | CA412548113 | NR0B1 | c.677C>T (p.Ala226Val) | |
| X | g.30308687G>C | CA412548114 | NR0B1 | c.677C>G (p.Ala226Gly) | |
| X | g.30308687G>T | CA412548115 | NR0B1 | c.677C>A (p.Ala226Asp) | |
| X | g.30308688C>A | CA412548116 | NR0B1 | c.676G>T (p.Ala226Ser) | |
| X | g.30308688C>G | CA412548117 | NR0B1 | c.676G>C (p.Ala226Pro) | gnomAD v4 |
| X | g.30308688C>T | CA412548118 | NR0B1 | c.676G>A (p.Ala226Thr) | |
| X | g.30308689del | CA2739290474 | NR0B1 | c.676del (p.Ala226LeufsTer?) | |
| X | g.30308689C>A | CA515946396 | NR0B1 | c.675G>T (p.Ala225=) | |
| X | g.30308689C>G | CA515946398 | NR0B1 | c.675G>C (p.Ala225=) | |
| X | g.30308689C>T | CA515946400 | NR0B1 | c.675G>A (p.Ala225=) | |
| X | g.30308690G>A | CA327976082 | NR0B1 | c.674C>T (p.Ala225Val) | dbSNP COSMIC COSMIC |
| X | g.30308690G>C | CA412548119 | NR0B1 | c.674C>G (p.Ala225Gly) | |
| X | g.30308690G= | CA2422040531 | NR0B1 | c.674C= (p.Ala225=) | |
| X | g.30308690G>T | CA412548120 | NR0B1 | c.674C>A (p.Ala225Glu) | gnomAD v4 |
| X | g.30308691C>A | CA412548121 | NR0B1 | c.673G>T (p.Ala225Ser) | |
| X | g.30308691C= | CA2422040532 | NR0B1 | c.673G= (p.Ala225=) | |
| X | g.30308691C>G | CA412548123 | NR0B1 | c.673G>C (p.Ala225Pro) | |
| X | g.30308691C>T | CA412548122 | NR0B1 | c.673G>A (p.Ala225Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308692C>A | CA412548124 | NR0B1 | c.672G>T (p.Gln224His) | |
| X | g.30308692C>G | CA412548125 | NR0B1 | c.672G>C (p.Gln224His) | |
| X | g.30308692C>T | CA515946408 | NR0B1 | c.672G>A (p.Gln224=) | |
| X | g.30308693T>A | CA412548126 | NR0B1 | c.671A>T (p.Gln224Leu) | |
| X | g.30308693T>C | CA412548127 | NR0B1 | c.671A>G (p.Gln224Arg) | gnomAD v4 |
| X | g.30308693T>G | CA412548128 | NR0B1 | c.671A>C (p.Gln224Pro) | |
| X | g.30308694G>A | CA412548129 | NR0B1 | c.670C>T (p.Gln224Ter) | ClinVar |
| X | g.30308694G>C | CA412548130 | NR0B1 | c.670C>G (p.Gln224Glu) | |
| X | g.30308694G>T | CA412548131 | NR0B1 | c.670C>A (p.Gln224Lys) | |
| X | g.30308695C>A | CA515946412 | NR0B1 | c.669G>T (p.Ala223=) | ClinVar gnomAD v4 |
| X | g.30308695C= | CA2422040533 | NR0B1 | c.669G= (p.Ala223=) | |
| X | g.30308695C>G | CA515946414 | NR0B1 | c.669G>C (p.Ala223=) | |
| X | g.30308695C>T | CA515946416 | NR0B1 | c.669G>A (p.Ala223=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308696G>A | CA412548132 | NR0B1 | c.668C>T (p.Ala223Val) | gnomAD v4 |
| X | g.30308696G>C | CA412548133 | NR0B1 | c.668C>G (p.Ala223Gly) | |
| X | g.30308696G>T | CA412548134 | NR0B1 | c.668C>A (p.Ala223Glu) | gnomAD v4 |
| X | g.30308697C>A | CA412548135 | NR0B1 | c.667G>T (p.Ala223Ser) | |
| X | g.30308697C= | CA2422040534 | NR0B1 | c.667G= (p.Ala223=) | |
| X | g.30308697C>G | CA412548136 | NR0B1 | c.667G>C (p.Ala223Pro) | |
| X | g.30308697C>T | CA412548137 | NR0B1 | c.667G>A (p.Ala223Thr) | ClinVar dbSNP |
| X | g.30308698T>A | CA412548138 | NR0B1 | c.666A>T (p.Gln222His) | |
| X | g.30308698T>C | CA515946426 | NR0B1 | c.666A>G (p.Gln222=) | dbSNP |
| X | g.30308698T>G | CA412548139 | NR0B1 | c.666A>C (p.Gln222His) | |
| X | g.30308698T= | CA2422040535 | NR0B1 | c.666A= (p.Gln222=) | |
| X | g.30308699T>A | CA412548140 | NR0B1 | c.665A>T (p.Gln222Leu) | |
| X | g.30308699T>C | CA412548141 | NR0B1 | c.665A>G (p.Gln222Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308699T>G | CA412548142 | NR0B1 | c.665A>C (p.Gln222Pro) | |
| X | g.30308699T= | CA2422040536 | NR0B1 | c.665A= (p.Gln222=) | |
| X | g.30308700G>A | CA412548143 | NR0B1 | c.664C>T (p.Gln222Ter) | ClinVar |
| X | g.30308700G>C | CA412548144 | NR0B1 | c.664C>G (p.Gln222Glu) | |
| X | g.30308700G>T | CA412548145 | NR0B1 | c.664C>A (p.Gln222Lys) | |
| X | g.30308701A>C | CA412548146 | NR0B1 | c.663T>G (p.Asn221Lys) | |
| X | g.30308701A>G | CA515946433 | NR0B1 | c.663T>C (p.Asn221=) | |
| X | g.30308701A>T | CA412548147 | NR0B1 | c.663T>A (p.Asn221Lys) | |
| X | g.30308702T>A | CA412548148 | NR0B1 | c.662A>T (p.Asn221Ile) | |
| X | g.30308702T>C | CA412548149 | NR0B1 | c.662A>G (p.Asn221Ser) | |
| X | g.30308702T>G | CA412548150 | NR0B1 | c.662A>C (p.Asn221Thr) | |
| X | g.30308703T>A | CA412548152 | NR0B1 | c.661A>T (p.Asn221Tyr) | |
| X | g.30308703T>C | CA412548153 | NR0B1 | c.661A>G (p.Asn221Asp) | |
| X | g.30308703T>G | CA412548151 | NR0B1 | c.661A>C (p.Asn221His) | |
| X | g.30308704T>A | CA515946441 | NR0B1 | c.660A>T (p.Thr220=) | COSMIC COSMIC |
| X | g.30308704T>C | CA515946442 | NR0B1 | c.660A>G (p.Thr220=) | |
| X | g.30308704T>G | CA515946443 | NR0B1 | c.660A>C (p.Thr220=) | |
| X | g.30308705G>A | CA412548154 | NR0B1 | c.659C>T (p.Thr220Ile) | gnomAD v4 |
| X | g.30308705G>C | CA412548155 | NR0B1 | c.659C>G (p.Thr220Arg) | |
| X | g.30308705G>T | CA412548156 | NR0B1 | c.659C>A (p.Thr220Lys) | gnomAD v4 |
| X | g.30308706T>A | CA412548157 | NR0B1 | c.658A>T (p.Thr220Ser) | |
| X | g.30308706T>C | CA412548158 | NR0B1 | c.658A>G (p.Thr220Ala) | |
| X | g.30308706T>G | CA412548159 | NR0B1 | c.658A>C (p.Thr220Pro) | |
| X | g.30308707G>A | CA515946451 | NR0B1 | c.657C>T (p.Ser219=) | gnomAD v4 |
| X | g.30308707G>C | CA412548161 | NR0B1 | c.657C>G (p.Ser219Arg) | |
| X | g.30308707G>T | CA412548160 | NR0B1 | c.657C>A (p.Ser219Arg) | |
| X | g.30308708C>A | CA412548162 | NR0B1 | c.656G>T (p.Ser219Ile) | gnomAD v4 |
| X | g.30308708C= | CA2422040537 | NR0B1 | c.656G= (p.Ser219=) | |
| X | g.30308708C>G | CA412548163 | NR0B1 | c.656G>C (p.Ser219Thr) | |
| X | g.30308708C>T | CA10376365 | NR0B1 | c.656G>A (p.Ser219Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308709T>A | CA412548164 | NR0B1 | c.655A>T (p.Ser219Cys) | |
| X | g.30308709T>C | CA412548165 | NR0B1 | c.655A>G (p.Ser219Gly) | |
| X | g.30308709T>G | CA412548166 | NR0B1 | c.655A>C (p.Ser219Arg) | |
| X | g.30308709_30308726delinsTCGTGGGCACGCAGTAGA | CA2422040538 | NR0B1 | c.638_655delinsTCTACTGCGTGCCCACGA (p.Leu213=) | |
| X | g.30308710C>A | CA515946457 | NR0B1 | c.654G>T (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308710C= | CA2422040539 | NR0B1 | c.654G= (p.Thr218=) | |
| X | g.30308710C>G | CA515946458 | NR0B1 | c.654G>C (p.Thr218=) | ClinVar dbSNP gnomAD v2 |
| X | g.30308710C>T | CA327976088 | NR0B1 | c.654G>A (p.Thr218=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308710_30308726delinsGATG | CA658653870 | NR0B1 | c.638_654delinsCATC (p.Leu213ProfsTer?) | ClinVar dbSNP |
| X | g.30308711G>A | CA412548167 | NR0B1 | c.653C>T (p.Thr218Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.30308711G>C | CA412548169 | NR0B1 | c.653C>G (p.Thr218Arg) | |
| X | g.30308711G= | CA2422040540 | NR0B1 | c.653C= (p.Thr218=) | |
| X | g.30308711G>T | CA412548168 | NR0B1 | c.653C>A (p.Thr218Lys) | gnomAD v4 |
| X | g.30308712_30308713del | CA2695232201 | NR0B1 | c.652_653del (p.Thr218GlufsTer?) | |
| X | g.30308712T>A | CA412548170 | NR0B1 | c.652A>T (p.Thr218Ser) | |
| X | g.30308712T>C | CA412548171 | NR0B1 | c.652A>G (p.Thr218Ala) | |
| X | g.30308712T>G | CA412548172 | NR0B1 | c.652A>C (p.Thr218Pro) | |
| X | g.30308712dup | CA658653871 | NR0B1 | c.652dup (p.Thr218AsnfsTer?) | ClinVar dbSNP |
| X | g.30308713G>A | CA515946464 | NR0B1 | c.651C>T (p.Pro217=) | |
| X | g.30308713G>C | CA515946465 | NR0B1 | c.651C>G (p.Pro217=) | |
| X | g.30308713G>T | CA515946466 | NR0B1 | c.651C>A (p.Pro217=) | |
| X | g.30308715del | CA2695232202 | NR0B1 | c.651del (p.Thr218ArgfsTer?) | |
| X | g.30308714G>A | CA412548173 | NR0B1 | c.650C>T (p.Pro217Leu) | |
| X | g.30308714G>C | CA327976089 | NR0B1 | c.650C>G (p.Pro217Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308714G= | CA2422040541 | NR0B1 | c.650C= (p.Pro217=) | |
| X | g.30308714G>T | CA412548174 | NR0B1 | c.650C>A (p.Pro217His) | gnomAD v4 |
| X | g.30308715G>A | CA412548175 | NR0B1 | c.649C>T (p.Pro217Ser) | gnomAD v4 |
| X | g.30308715G>C | CA412548176 | NR0B1 | c.649C>G (p.Pro217Ala) | |
| X | g.30308715G>T | CA412548177 | NR0B1 | c.649C>A (p.Pro217Thr) | gnomAD v4 |
| X | g.30308716C>A | CA515946478 | NR0B1 | c.648G>T (p.Val216=) | gnomAD v4 |
| X | g.30308716C>G | CA515946480 | NR0B1 | c.648G>C (p.Val216=) | |
| X | g.30308716C>T | CA515946481 | NR0B1 | c.648G>A (p.Val216=) | |
| X | g.30308717A>C | CA412548178 | NR0B1 | c.647T>G (p.Val216Gly) | |
| X | g.30308717A>G | CA412548179 | NR0B1 | c.647T>C (p.Val216Ala) | gnomAD v4 |
| X | g.30308717A>T | CA412548180 | NR0B1 | c.647T>A (p.Val216Glu) | |
| X | g.30308718del | CA2820256701 | NR0B1 | c.646del (p.Val216CysfsTer?) | |
| X | g.30308718C>A | CA327976090 | NR0B1 | c.646G>T (p.Val216Leu) | dbSNP |
| X | g.30308718C= | CA2422040542 | NR0B1 | c.646G= (p.Val216=) | |
| X | g.30308718C>G | CA412548182 | NR0B1 | c.646G>C (p.Val216Leu) | gnomAD v4 |
| X | g.30308718C>T | CA412548181 | NR0B1 | c.646G>A (p.Val216Met) | COSMIC COSMIC |