All transcript variants in gene NR1H4

Information The variants shown are described using the NM_005123.3 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-38C>T r.(=) p.(=) g.100887064C>T Copied from the Exome Variant Server NR1H4_000001 1/12962 1/8568 0/4394
?/? c.-13T>C r.(=) p.(=) g.100887089T>C Copied from the Exome Variant Server NR1H4_000002 1/12986 1/8588 0/4398
?/? c.-1G>T r.(=) p.(=) g.100887101G>T Copied from the Exome Variant Server NR1H4_000003 313/12992 205/8596 108/4396
?/? c.1A>G r.? p.? g.100887102A>G Copied from the Exome Variant Server NR1H4_000004 3/12992 3/8596 0/4396
?/? c.6A>C r.(=) p.(=) g.100887107A>C Copied from the Exome Variant Server NR1H4_000005 1/12990 1/8594 0/4396
?/? c.18T>C r.(=) p.(=) g.100887119T>C Copied from the Exome Variant Server NR1H4_000006 12/12990 0/8596 12/4394
?/? c.79+25A>G r.(=) p.(=) g.100887205A>G Copied from the Exome Variant Server NR1H4_000007 1/12942 0/8564 1/4378
?/? c.79+42A>G r.(=) p.(=) g.100887222A>G Copied from the Exome Variant Server NR1H4_000008 1/12904 1/8542 0/4362
?/? c.80-7395T>A r.(=) p.(=) g.100897161T>A Copied from the Exome Variant Server NR1H4_000009 1/5734 0/3982 1/1752
?/? c.80-7357A>G r.(=) p.(=) g.100897199A>G Copied from the Exome Variant Server NR1H4_000010 1/5734 1/3982 0/1752
?/? c.80-7340C>T r.(=) p.(=) g.100897216C>T Copied from the Exome Variant Server NR1H4_000011 112/5734 7/3982 105/1752
?/? c.80-7325G>A r.(=) p.(=) g.100897231G>A Copied from the Exome Variant Server NR1H4_000012 112/5734 7/3982 105/1752
?/? c.80-7305T>G r.(=) p.(=) g.100897251T>G Copied from the Exome Variant Server NR1H4_000013 27/5734 0/3982 27/1752
?/? c.80-7287C>T r.(=) p.(=) g.100897269C>T Copied from the Exome Variant Server NR1H4_000014 1/5734 0/3982 1/1752
?/? c.80-38A>G r.(=) p.(=) g.100904518A>G Copied from the Exome Variant Server NR1H4_000015 7/13006 0/8600 7/4406
?/? c.82G>A r.(?) p.(Val28Ile) g.100904558G>A Copied from the Exome Variant Server NR1H4_000016 64/13006 0/8600 64/4406
?/? c.132A>T r.(?) p.(Glu44Asp) g.100904608A>T Copied from the Exome Variant Server NR1H4_000017 1/13006 0/8600 1/4406
?/? c.141G>A r.(=) p.(=) g.100904617G>A Copied from the Exome Variant Server NR1H4_000018 1/13006 0/8600 1/4406
?/? c.180G>A r.(=) p.(=) g.100904656G>A Copied from the Exome Variant Server NR1H4_000019 2/13006 1/8600 1/4406
?/? c.268C>T r.(?) p.(Arg90Cys) g.100904744C>T Copied from the Exome Variant Server NR1H4_000020 1/13006 1/8600 0/4406
?/? c.293A>G r.(?) p.(Gln98Arg) g.100904769A>G Copied from the Exome Variant Server NR1H4_000021 1/13006 1/8600 0/4406
?/? c.306G>A r.(=) p.(=) g.100904782G>A Copied from the Exome Variant Server NR1H4_000022 1/13006 1/8600 0/4406
?/? c.343G>T r.(?) p.(Gly115Cys) g.100904819G>T Copied from the Exome Variant Server NR1H4_000023 1/13006 0/8600 1/4406
?/? c.345C>T r.(=) p.(=) g.100904821C>T Copied from the Exome Variant Server NR1H4_000024 1/13006 1/8600 0/4406
?/? c.346G>A r.(?) p.(Ala116Thr) g.100904822G>A Copied from the Exome Variant Server NR1H4_000025 1/13006 1/8600 0/4406
?/? c.378G>C r.(=) p.(=) g.100904854G>C Copied from the Exome Variant Server NR1H4_000026 1/13006 1/8600 0/4406
?/? c.438G>A r.(=) p.(=) g.100904914G>A Copied from the Exome Variant Server NR1H4_000027 1/13006 1/8600 0/4406
?/? c.445+32C>T r.(=) p.(=) g.100904953C>T Copied from the Exome Variant Server NR1H4_000028 1/13006 1/8600 0/4406
?/? c.474C>T r.(=) p.(=) g.100926264C>T Copied from the Exome Variant Server NR1H4_000030 3/13006 1/8600 2/4406
?/? c.518T>C r.(?) p.(Met173Thr) g.100926308T>C Copied from the Exome Variant Server NR1H4_000032 62/13006 59/8600 3/4406
?/? c.586+3A>G r.spl? p.? g.100926379A>G Copied from the Exome Variant Server NR1H4_000034 1/13006 1/8600 0/4406
?/? c.586+34A>G r.(=) p.(=) g.100926410A>G Copied from the Exome Variant Server NR1H4_000036 1/13006 1/8600 0/4406
?/? c.587-46del r.(=) p.(=) g.100928622del Copied from the Exome Variant Server NR1H4_000038 1/12518 1/8254 0/4264
?/? c.643C>T r.(?) p.(His215Tyr) g.100928724C>T Copied from the Exome Variant Server NR1H4_000040 6/13006 5/8600 1/4406
?/? c.720+2_720+4del r.spl? p.? g.100928803_100928805del Copied from the Exome Variant Server NR1H4_000042 1/12518 0/8254 1/4264
?/? c.720+6A>G r.(=) p.(=) g.100928807A>G Copied from the Exome Variant Server NR1H4_000029 1/13006 1/8600 0/4406
?/? c.720+28G>T r.(=) p.(=) g.100928829G>T Copied from the Exome Variant Server NR1H4_000031 1/13006 0/8600 1/4406
?/? c.720+36G>A r.(=) p.(=) g.100928837G>A Copied from the Exome Variant Server NR1H4_000033 2/13006 2/8600 0/4406
?/? c.721-30C>A r.(=) p.(=) g.100930260C>A Copied from the Exome Variant Server NR1H4_000035 1/12998 1/8592 0/4406
?/? c.721-26C>T r.(=) p.(=) g.100930264C>T Copied from the Exome Variant Server NR1H4_000037 1187/12998 29/8592 1158/4406
?/? c.735C>A r.(=) p.(=) g.100930304C>A Copied from the Exome Variant Server NR1H4_000039 2/12998 0/8592 2/4406
?/? c.752C>G r.(?) p.(Thr251Ser) g.100930321C>G Copied from the Exome Variant Server NR1H4_000041 1/12998 1/8592 0/4406
?/? c.756T>C r.(=) p.(=) g.100930325T>C Copied from the Exome Variant Server NR1H4_000043 1/12998 0/8592 1/4406
?/? c.819+8T>A r.(=) p.(=) g.100930396T>A Copied from the Exome Variant Server NR1H4_000044 108/12988 88/8582 20/4406
?/? c.819+16G>A r.(=) p.(=) g.100930404G>A Copied from the Exome Variant Server NR1H4_000045 2/12970 0/8570 2/4400
?/? c.819+17A>C r.(=) p.(=) g.100930405A>C Copied from the Exome Variant Server NR1H4_000046 1/12964 0/8568 1/4396
?/? c.820-31T>A r.(=) p.(=) g.100930695T>A Copied from the Exome Variant Server NR1H4_000047 1775/12308 160/8280 1615/4028
?/? c.820-16T>A r.(=) p.(=) g.100930710T>A Copied from the Exome Variant Server NR1H4_000048 1414/12570 39/8418 1375/4152
?/? c.919+15A>G r.(=) p.(=) g.100930840A>G Copied from the Exome Variant Server NR1H4_000049 1/12874 1/8530 0/4344
?/? c.919+18A>G r.(=) p.(=) g.100930843A>G Copied from the Exome Variant Server NR1H4_000050 1/12868 0/8526 1/4342
?/? c.919+19A>C r.(=) p.(=) g.100930844A>C Copied from the Exome Variant Server NR1H4_000051 53/12866 0/8524 53/4342
?/? c.919+27A>G r.(=) p.(=) g.100930852A>G Copied from the Exome Variant Server NR1H4_000052 1/12836 0/8512 1/4324
?/? c.920-37A>G r.(=) p.(=) g.100934413A>G Copied from the Exome Variant Server NR1H4_000053 14/13006 0/8600 14/4406
?/? c.1060A>C r.(?) p.(Asn354His) g.100934590A>C Copied from the Exome Variant Server NR1H4_000054 3/13006 3/8600 0/4406
?/? c.1067-51C>A r.(=) p.(=) g.100955612C>A Copied from the Exome Variant Server NR1H4_000055 28/12984 24/8580 4/4404
?/? c.1067-28G>A r.(=) p.(=) g.100955635G>A Copied from the Exome Variant Server NR1H4_000056 8/12996 0/8590 8/4406
?/? c.1067-17G>A r.(=) p.(=) g.100955646G>A Copied from the Exome Variant Server NR1H4_000057 1/13000 1/8594 0/4406
?/? c.1067-12del r.(=) p.(=) g.100955651del Copied from the Exome Variant Server NR1H4_000058 1/12512 1/8248 0/4264
?/? c.1093A>G r.(?) p.(Met365Val) g.100955689A>G Copied from the Exome Variant Server NR1H4_000059 1/12996 0/8590 1/4406
?/? c.1180+34del r.(=) p.(=) g.100955810del Copied from the Exome Variant Server NR1H4_000060 5/12508 0/8244 5/4264
?/? c.1180+34_1180+35insT r.(=) p.(=) g.100955810_100955811insT Copied from the Exome Variant Server NR1H4_000061 5/12500 3/8242 2/4258
?/? c.1181-19del r.(=) p.(=) g.100957010del Copied from the Exome Variant Server NR1H4_000062 1/12518 1/8254 0/4264
?/? c.1233T>C r.(=) p.(=) g.100957081T>C Copied from the Exome Variant Server NR1H4_000063 1/13006 0/8600 1/4406
?/? c.1347G>T r.(?) p.(Glu449Asp) g.100957195G>T Copied from the Exome Variant Server NR1H4_000064 1/13006 0/8600 1/4406
?/? c.1371C>T r.(=) p.(=) g.100957219C>T Copied from the Exome Variant Server NR1H4_000065 2/13006 1/8600 1/4406
?/? c.*10C>G r.(=) p.(=) g.100957277C>G Copied from the Exome Variant Server NR1H4_000066 1/13006 1/8600 0/4406
?/? c.*14G>A r.(=) p.(=) g.100957281G>A Copied from the Exome Variant Server NR1H4_000067 1/13006 1/8600 0/4406
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