| X | g.30307936_30311263del | CA658653869 | | | ClinVar |
| X | g.30308577A>C | CA412547877 | NR0B1 | c.787T>G (p.Leu263Val)
| |
| X | g.30308577A>G | CA515946033 | NR0B1 | c.787T>C (p.Leu263=)
| |
| X | g.30308577A>T | CA412547879 | NR0B1 | c.787T>A (p.Leu263Met)
| |
| X | g.30308578C>A | CA515946035 | NR0B1 | c.786G>T (p.Leu262=)
| |
| X | g.30308578C>G | CA515946036 | NR0B1 | c.786G>C (p.Leu262=)
| |
| X | g.30308578C>T | CA515946040 | NR0B1 | c.786G>A (p.Leu262=)
| |
| X | g.30308579A= | CA2422039890 | NR0B1 | c.785T= (p.Leu262=)
| |
| X | g.30308579A>C | CA412547882 | NR0B1 | c.785T>G (p.Leu262Arg)
| ClinVar dbSNP |
| X | g.30308579A>G | CA412547884 | NR0B1 | c.785T>C (p.Leu262Pro)
| |
| X | g.30308579A>T | CA412547885 | NR0B1 | c.785T>A (p.Leu262Gln)
| |
| X | g.30308580G>A | CA515946047 | NR0B1 | c.784C>T (p.Leu262=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308580G>C | CA412547888 | NR0B1 | c.784C>G (p.Leu262Val)
| |
| X | g.30308580G= | CA2422039891 | NR0B1 | c.784C= (p.Leu262=)
| |
| X | g.30308580G>T | CA412547889 | NR0B1 | c.784C>A (p.Leu262Met)
| |
| X | g.30308581G>A | CA515946049 | NR0B1 | c.783C>T (p.Gly261=)
| |
| X | g.30308581G>C | CA515946051 | NR0B1 | c.783C>G (p.Gly261=)
| |
| X | g.30308581G>T | CA515946054 | NR0B1 | c.783C>A (p.Gly261=)
| |
| X | g.30308582C>A | CA412547890 | NR0B1 | c.782G>T (p.Gly261Val)
| |
| X | g.30308582C>G | CA412547891 | NR0B1 | c.782G>C (p.Gly261Ala)
| |
| X | g.30308582C>T | CA412547893 | NR0B1 | c.782G>A (p.Gly261Asp)
| |
| X | g.30308583C>A | CA412547894 | NR0B1 | c.781G>T (p.Gly261Cys)
| |
| X | g.30308583C>G | CA412547896 | NR0B1 | c.781G>C (p.Gly261Arg)
| |
| X | g.30308583C>T | CA412547898 | NR0B1 | c.781G>A (p.Gly261Ser)
| |
| X | g.30308584C>A | CA10376349 | NR0B1 | c.780G>T (p.Ala260=)
| dbSNP ExAC gnomAD v2 |
| X | g.30308584C= | CA2422039892 | NR0B1 | c.780G= (p.Ala260=)
| |
| X | g.30308584C>G | CA10376350 | NR0B1 | c.780G>C (p.Ala260=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308584C>T | CA515946066 | NR0B1 | c.780G>A (p.Ala260=)
| ClinVar |
| X | g.30308585G>A | CA10376351 | NR0B1 | c.779C>T (p.Ala260Val)
| dbSNP ExAC |
| X | g.30308585G>C | CA412547902 | NR0B1 | c.779C>G (p.Ala260Gly)
| |
| X | g.30308585G= | CA2422039893 | NR0B1 | c.779C= (p.Ala260=)
| |
| X | g.30308585G>T | CA10376352 | NR0B1 | c.779C>A (p.Ala260Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308586C>A | CA412547903 | NR0B1 | c.778G>T (p.Ala260Ser)
| |
| X | g.30308586C>G | CA412547904 | NR0B1 | c.778G>C (p.Ala260Pro)
| |
| X | g.30308586C>T | CA412547905 | NR0B1 | c.778G>A (p.Ala260Thr)
| |
| X | g.30308587T>A | CA515946080 | NR0B1 | c.777A>T (p.Ser259=)
| |
| X | g.30308587T>C | CA10376353 | NR0B1 | c.777A>G (p.Ser259=)
| ClinVar dbSNP ExAC gnomAD v4 |
| X | g.30308587T>G | CA515946081 | NR0B1 | c.777A>C (p.Ser259=)
| |
| X | g.30308587T= | CA2422039894 | NR0B1 | c.777A= (p.Ser259=)
| |
| X | g.30308588G>A | CA412547906 | NR0B1 | c.776C>T (p.Ser259Leu)
| |
| X | g.30308588G>C | CA412547907 | NR0B1 | c.776C>G (p.Ser259Ter)
| |
| X | g.30308588G>T | CA412547908 | NR0B1 | c.776C>A (p.Ser259Ter)
| |
| X | g.30308589A>C | CA412547909 | NR0B1 | c.775T>G (p.Ser259Ala)
| |
| X | g.30308589A>G | CA412547910 | NR0B1 | c.775T>C (p.Ser259Pro)
| |
| X | g.30308589A>T | CA412547911 | NR0B1 | c.775T>A (p.Ser259Thr)
| |
| X | g.30308590G>A | CA515946091 | NR0B1 | c.774C>T (p.Ala258=)
| ClinVar |
| X | g.30308590G>C | CA515946092 | NR0B1 | c.774C>G (p.Ala258=)
| |
| X | g.30308590G>T | CA515946093 | NR0B1 | c.774C>A (p.Ala258=)
| |
| X | g.30308590_30308591dup | CA2695232196 | NR0B1 | c.773_774dup (p.Ser259ProfsTer6)
| |
| X | g.30308591G>A | CA412547913 | NR0B1 | c.773C>T (p.Ala258Val)
| gnomAD v4 |
| X | g.30308591G>C | CA412547914 | NR0B1 | c.773C>G (p.Ala258Gly)
| |
| X | g.30308591G= | CA2422039895 | NR0B1 | c.773C= (p.Ala258=)
| |
| X | g.30308591G>T | CA412547912 | NR0B1 | c.773C>A (p.Ala258Asp)
| ClinVar dbSNP |
| X | g.30308591_30308592insGCCCGCTGAGGGT | CA2695232197 | NR0B1 | c.772_773insACCCTCAGCGGGC (p.Ala258AspfsTer?)
| |
| X | g.30308592C>A | CA412547915 | NR0B1 | c.772G>T (p.Ala258Ser)
| |
| X | g.30308592C= | CA2422039896 | NR0B1 | c.772G= (p.Ala258=)
| |
| X | g.30308592C>G | CA412547916 | NR0B1 | c.772G>C (p.Ala258Pro)
| |
| X | g.30308592C>T | CA412547917 | NR0B1 | c.772G>A (p.Ala258Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308593T>A | CA515946104 | NR0B1 | c.771A>T (p.Ala257=)
| |
| X | g.30308593T>C | CA515946105 | NR0B1 | c.771A>G (p.Ala257=)
| |
| X | g.30308593T>G | CA515946107 | NR0B1 | c.771A>C (p.Ala257=)
| |
| X | g.30308594G>A | CA412547918 | NR0B1 | c.770C>T (p.Ala257Val)
| |
| X | g.30308594G>C | CA412547919 | NR0B1 | c.770C>G (p.Ala257Gly)
| |
| X | g.30308594G>T | CA412547920 | NR0B1 | c.770C>A (p.Ala257Glu)
| |
| X | g.30308595C>A | CA412547923 | NR0B1 | c.769G>T (p.Ala257Ser)
| |
| X | g.30308595C= | CA2422039897 | NR0B1 | c.769G= (p.Ala257=)
| |
| X | g.30308595C>G | CA412547921 | NR0B1 | c.769G>C (p.Ala257Pro)
| gnomAD v4 |
| X | g.30308595C>T | CA412547922 | NR0B1 | c.769G>A (p.Ala257Thr)
| dbSNP |
| X | g.30308596C>A | CA412547924 | NR0B1 | c.768G>T (p.Glu256Asp)
| |
| X | g.30308596C>G | CA412547925 | NR0B1 | c.768G>C (p.Glu256Asp)
| |
| X | g.30308596C>T | CA515946114 | NR0B1 | c.768G>A (p.Glu256=)
| |
| X | g.30308597T>A | CA412547926 | NR0B1 | c.767A>T (p.Glu256Val)
| |
| X | g.30308597T>C | CA412547927 | NR0B1 | c.767A>G (p.Glu256Gly)
| gnomAD v4 COSMIC COSMIC |
| X | g.30308597T>G | CA412547928 | NR0B1 | c.767A>C (p.Glu256Ala)
| |
| X | g.30308598C>A | CA412547929 | NR0B1 | c.766G>T (p.Glu256Ter)
| |
| X | g.30308598C= | CA2422039900 | NR0B1 | c.766G= (p.Glu256=)
| |
| X | g.30308598C>G | CA412547931 | NR0B1 | c.766G>C (p.Glu256Gln)
| |
| X | g.30308598C>T | CA412547930 | NR0B1 | c.766G>A (p.Glu256Lys)
| dbSNP |
| X | g.30308599del | CA2580100540 | NR0B1 | c.765del (p.Cys255TrpfsTer9)
| ClinVar |
| X | g.30308599G>A | CA515946118 | NR0B1 | c.765C>T (p.Cys255=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308599G>C | CA412547932 | NR0B1 | c.765C>G (p.Cys255Trp)
| |
| X | g.30308599G= | CA2422039907 | NR0B1 | c.765C= (p.Cys255=)
| |
| X | g.30308599G>T | CA412547933 | NR0B1 | c.765C>A (p.Cys255Ter)
| ClinVar dbSNP |
| X | g.30308600C>A | CA327976030 | NR0B1 | c.764G>T (p.Cys255Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308600C= | CA2422039913 | NR0B1 | c.764G= (p.Cys255=)
| |
| X | g.30308600C>G | CA412547934 | NR0B1 | c.764G>C (p.Cys255Ser)
| |
| X | g.30308600C>T | CA412547935 | NR0B1 | c.764G>A (p.Cys255Tyr)
| |
| X | g.30308601A>C | CA412547936 | NR0B1 | c.763T>G (p.Cys255Gly)
| |
| X | g.30308601A>G | CA412547937 | NR0B1 | c.763T>C (p.Cys255Arg)
| |
| X | g.30308601A>T | CA412547938 | NR0B1 | c.763T>A (p.Cys255Ser)
| |
| X | g.30308602G>A | CA515946127 | NR0B1 | c.762C>T (p.Val254=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308602G>C | CA327976031 | NR0B1 | c.762C>G (p.Val254=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308602G= | CA2422039915 | NR0B1 | c.762C= (p.Val254=)
| |
| X | g.30308602G>T | CA515946133 | NR0B1 | c.762C>A (p.Val254=)
| |
| X | g.30308605_30308615del | CA2695232198 | NR0B1 | c.752_762del (p.Pro251LeufsTer?)
| |
| X | g.30308603A>C | CA412547939 | NR0B1 | c.761T>G (p.Val254Gly)
| |
| X | g.30308603A>G | CA412547940 | NR0B1 | c.761T>C (p.Val254Ala)
| |
| X | g.30308603A>T | CA412547941 | NR0B1 | c.761T>A (p.Val254Asp)
| |
| X | g.30308604C>A | CA412547943 | NR0B1 | c.760G>T (p.Val254Phe)
| |
| X | g.30308604C>G | CA412547944 | NR0B1 | c.760G>C (p.Val254Leu)
| gnomAD v4 |
| X | g.30308604C>T | CA412547942 | NR0B1 | c.760G>A (p.Val254Ile)
| gnomAD v4 |
| X | g.30308605C>A | CA10376354 | NR0B1 | c.759G>T (p.Val253=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308605C= | CA2422039918 | NR0B1 | c.759G= (p.Val253=)
| |
| X | g.30308605C>G | CA10376355 | NR0B1 | c.759G>C (p.Val253=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308605C>T | CA515946138 | NR0B1 | c.759G>A (p.Val253=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308606A>C | CA412547945 | NR0B1 | c.758T>G (p.Val253Gly)
| |
| X | g.30308606A>G | CA412547947 | NR0B1 | c.758T>C (p.Val253Ala)
| |
| X | g.30308606A>T | CA412547946 | NR0B1 | c.758T>A (p.Val253Glu)
| |
| X | g.30308607C>A | CA412547948 | NR0B1 | c.757G>T (p.Val253Leu)
| COSMIC COSMIC |
| X | g.30308607C>G | CA412547950 | NR0B1 | c.757G>C (p.Val253Leu)
| |
| X | g.30308607C>T | CA412547949 | NR0B1 | c.757G>A (p.Val253Met)
| |
| X | g.30308608C>A | CA412547951 | NR0B1 | c.756G>T (p.Gln252His)
| |
| X | g.30308608C= | CA2422040494 | NR0B1 | c.756G= (p.Gln252=)
| |
| X | g.30308608C>G | CA412547952 | NR0B1 | c.756G>C (p.Gln252His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308608C>T | CA515946157 | NR0B1 | c.756G>A (p.Gln252=)
| ClinVar |
| X | g.30308610_30308618del | CA2529980778 | NR0B1 | c.748_756del (p.Ser250_Gln252del)
| |
| X | g.30308609T>A | CA412547953 | NR0B1 | c.755A>T (p.Gln252Leu)
| |
| X | g.30308609T>C | CA412547954 | NR0B1 | c.755A>G (p.Gln252Arg)
| gnomAD v4 |
| X | g.30308609T>G | CA412547955 | NR0B1 | c.755A>C (p.Gln252Pro)
| |
| X | g.30308609_30308610delinsTG | CA2422040495 | NR0B1 | c.754_755delinsCA (p.Gln252=)
| |
| X | g.30308610del | CA658684288 | NR0B1 | c.754del (p.Gln252ArgfsTer12)
| ClinVar dbSNP |
| X | g.30308610G>A | CA412547956 | NR0B1 | c.754C>T (p.Gln252Ter)
| ClinVar |
| X | g.30308610G>C | CA412547957 | NR0B1 | c.754C>G (p.Gln252Glu)
| |
| X | g.30308610G>T | CA412547958 | NR0B1 | c.754C>A (p.Gln252Lys)
| gnomAD v4 |
| X | g.30308611T>A | CA515946164 | NR0B1 | c.753A>T (p.Pro251=)
| |
| X | g.30308611T>C | CA10376356 | NR0B1 | c.753A>G (p.Pro251=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308611T>G | CA515946165 | NR0B1 | c.753A>C (p.Pro251=)
| |
| X | g.30308611T= | CA2422040496 | NR0B1 | c.753A= (p.Pro251=)
| |
| X | g.30308612G>A | CA412547959 | NR0B1 | c.752C>T (p.Pro251Leu)
| |
| X | g.30308612G>C | CA412547960 | NR0B1 | c.752C>G (p.Pro251Arg)
| |
| X | g.30308612G>T | CA412547961 | NR0B1 | c.752C>A (p.Pro251Gln)
| |
| X | g.30308613G>A | CA412547964 | NR0B1 | c.751C>T (p.Pro251Ser)
| |
| X | g.30308613G>C | CA412547962 | NR0B1 | c.751C>G (p.Pro251Ala)
| |
| X | g.30308613G>T | CA412547963 | NR0B1 | c.751C>A (p.Pro251Thr)
| gnomAD v4 |
| X | g.30308614A>C | CA412547965 | NR0B1 | c.750T>G (p.Ser250Arg)
| |
| X | g.30308614A>G | CA515946169 | NR0B1 | c.750T>C (p.Ser250=)
| |
| X | g.30308614A>T | CA412547966 | NR0B1 | c.750T>A (p.Ser250Arg)
| |
| X | g.30308615C>A | CA412547967 | NR0B1 | c.749G>T (p.Ser250Ile)
| gnomAD v4 |
| X | g.30308615C>G | CA412547968 | NR0B1 | c.749G>C (p.Ser250Thr)
| |
| X | g.30308615C>T | CA412547969 | NR0B1 | c.749G>A (p.Ser250Asn)
| |
| X | g.30308616T>A | CA412547970 | NR0B1 | c.748A>T (p.Ser250Cys)
| |
| X | g.30308616T>C | CA412547971 | NR0B1 | c.748A>G (p.Ser250Gly)
| dbSNP |
| X | g.30308616T>G | CA412547972 | NR0B1 | c.748A>C (p.Ser250Arg)
| |
| X | g.30308616T= | CA2422040497 | NR0B1 | c.748A= (p.Ser250=)
| |
| X | g.30308617C>A | CA412547973 | NR0B1 | c.747G>T (p.Lys249Asn)
| gnomAD v4 |
| X | g.30308617C>G | CA412547974 | NR0B1 | c.747G>C (p.Lys249Asn)
| |
| X | g.30308617C>T | CA515946179 | NR0B1 | c.747G>A (p.Lys249=)
| |
| 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=)
| |
