Unique variants in gene ESR1

Information The variants shown are described using the NM_000125.3 transcript reference sequence.

104 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-14C>T r.(=) p.(=) g.152129034C>T Copied from the Exome Variant Server ESR1_000001 1/13004 1/8598 0/4406
1 c.-12C>A r.(=) p.(=) g.152129036C>A Copied from the Exome Variant Server ESR1_000002 1/13004 0/8598 1/4406
1 c.-11G>A r.(=) p.(=) g.152129037G>A Copied from the Exome Variant Server ESR1_000003 1/13004 1/8598 0/4406
1 c.16C>T r.(?) p.(His6Tyr) g.152129063C>T Copied from the Exome Variant Server ESR1_000004 47/13006 44/8600 3/4406
1 c.30T>C r.(=) p.(=) g.152129077T>C Copied from the Exome Variant Server ESR1_000005 6228/13006 4101/8600 2127/4406
1 c.41T>C r.(?) p.(Leu14Pro) g.152129088T>C Copied from the Exome Variant Server ESR1_000006 1/13006 1/8600 0/4406
1 c.81C>T r.(=) p.(=) g.152129128C>T Copied from the Exome Variant Server ESR1_000007 2/13006 0/8600 2/4406
1 c.148G>A r.(?) p.(Ala50Thr) g.152129195G>A Copied from the Exome Variant Server ESR1_000008 1/13002 0/8600 1/4402
1 c.171C>T r.(=) p.(=) g.152129218C>T Copied from the Exome Variant Server ESR1_000009 1/12980 0/8586 1/4394
1 c.207C>T r.(=) p.(=) g.152129254C>T Copied from the Exome Variant Server ESR1_000010 6/12942 6/8574 0/4368
1 c.261G>C r.(=) p.(=) g.152129308G>C Copied from the Exome Variant Server ESR1_000011 767/12756 624/8442 143/4314
1 c.281_282insG r.(?) p.(Leu100Thrfs*57) g.152129328_152129329insG Copied from the Exome Variant Server ESR1_000012 138/11966 78/7918 60/4048
1 c.352T>C r.(?) p.(Ser118Pro) g.152129399T>C Copied from the Exome Variant Server ESR1_000013 31/12278 27/8156 4/4122
1 c.402C>T r.(=) p.(=) g.152129449C>T Copied from the Exome Variant Server ESR1_000014 5/12594 0/8340 5/4254
1 c.406C>T r.(?) p.(Pro136Ser) g.152129453C>T Copied from the Exome Variant Server ESR1_000016 9/12522 0/8302 9/4220
1 c.409A>G r.(?) p.(Ser137Gly) g.152129456A>G Copied from the Exome Variant Server ESR1_000018 17/12420 0/8246 17/4174
1 c.420G>T r.(=) p.(=) g.152129467G>T Copied from the Exome Variant Server ESR1_000020 3/11920 3/7936 0/3984
1 c.452+15G>T r.(=) p.(=) g.152129514G>T Copied from the Exome Variant Server ESR1_000022 1/8024 0/5518 1/2506
1 c.452+47_452+50del r.(=) p.(=) g.152129546_152129549del Copied from the Exome Variant Server ESR1_000025 39/2840 32/2122 7/718
1 c.452+47_452+50dup r.(=) p.(=) g.152129546_152129549dup Copied from the Exome Variant Server ESR1_000024 166/2840 30/2122 136/718
1 c.453-41C>A r.(=) p.(=) g.152163691C>A Copied from the Exome Variant Server ESR1_000027 1/13004 0/8600 1/4404
1 c.454C>G r.(?) p.(Pro152Ala) g.152163733C>G Copied from the Exome Variant Server ESR1_000029 20/13006 0/8600 20/4406
1 c.478G>T r.(?) p.(Gly160Cys) g.152163757G>T Copied from the Exome Variant Server ESR1_000031 26/13006 23/8600 3/4406
1 c.542A>C r.(?) p.(Glu181Ala) g.152163821A>C Copied from the Exome Variant Server ESR1_000033 1/13006 0/8600 1/4406
1 c.548G>A r.(?) p.(Arg183His) g.152163827G>A Copied from the Exome Variant Server ESR1_000034 1/13006 1/8600 0/4406
1 c.643+27A>G r.(=) p.(=) g.152163949A>G Copied from the Exome Variant Server ESR1_000015 1/13006 1/8600 0/4406
1 c.643+45A>G r.(=) p.(=) g.152163967A>G Copied from the Exome Variant Server ESR1_000017 1/13006 1/8600 0/4406
1 c.644-28A>G r.(=) p.(=) g.152201762A>G Copied from the Exome Variant Server ESR1_000019 3/13006 3/8600 0/4406
1 c.651C>T r.(=) p.(=) g.152201797C>T Copied from the Exome Variant Server ESR1_000021 1/13006 1/8600 0/4406
1 c.678G>A r.(=) p.(=) g.152201824G>A Copied from the Exome Variant Server ESR1_000023 1/13006 1/8600 0/4406
1 c.720C>T r.(=) p.(=) g.152201866C>T Copied from the Exome Variant Server ESR1_000026 2/13006 2/8600 0/4406
1 c.729T>C N/A N/A g.152201875T>C Copied from the Exome Variant Server ESR1_000028 12626/13006 8256/8600 4370/4406
1 c.760+8C>T r.(=) p.(=) g.152201914C>T Copied from the Exome Variant Server ESR1_000030 1/13006 1/8600 0/4406
1 c.760+32A>C r.(=) p.(=) g.152201938A>C Copied from the Exome Variant Server ESR1_000032 1/13006 1/8600 0/4406
1 c.761-44C>T r.(=) p.(=) g.152265264C>T Copied from the Exome Variant Server ESR1_000035 12/12670 10/8438 2/4232
1 c.761-43G>A r.(=) p.(=) g.152265265G>A Copied from the Exome Variant Server ESR1_000036 1/12742 0/8478 1/4264
1 c.761-25del r.(=) p.(=) g.152265283del Copied from the Exome Variant Server ESR1_000038 42/12456 19/8222 23/4234
1 c.761-25dup r.(=) p.(=) g.152265283dup Copied from the Exome Variant Server ESR1_000037 6834/12456 5440/8222 1394/4234
1 c.761-25_761-24insTT r.(=) p.(=) g.152265283_152265284insTT Copied from the Exome Variant Server ESR1_000039 73/12456 63/8222 10/4234
1 c.761-10G>C r.(=) p.(=) g.152265298G>C Copied from the Exome Variant Server ESR1_000040 1/13006 1/8600 0/4406
1 c.805C>T r.(?) p.(Arg269Cys) g.152265352C>T Copied from the Exome Variant Server ESR1_000041 26/13006 25/8600 1/4406
1 c.831G>A r.(=) p.(=) g.152265378G>A Copied from the Exome Variant Server ESR1_000042 1/13006 1/8600 0/4406
1 c.853G>A r.(?) p.(Asp285Asn) g.152265400G>A Copied from the Exome Variant Server ESR1_000043 1/13006 1/8600 0/4406
1 c.867C>G r.(=) p.(=) g.152265414C>G Copied from the Exome Variant Server ESR1_000044 1/13006 1/8600 0/4406
1 c.885G>A r.(=) p.(=) g.152265432G>A Copied from the Exome Variant Server ESR1_000045 5/13006 1/8600 4/4406
1 c.896A>G r.(?) p.(Lys299Arg) g.152265443A>G Copied from the Exome Variant Server ESR1_000046 20/13006 17/8600 3/4406
1 c.898C>T r.(?) p.(Arg300Cys) g.152265445C>T Copied from the Exome Variant Server ESR1_000047 2/13006 1/8600 1/4406
1 c.899G>A r.(?) p.(Arg300His) g.152265446G>A Copied from the Exome Variant Server ESR1_000048 1/13006 0/8600 1/4406
1 c.933G>A r.(=) p.(=) g.152265480G>A Copied from the Exome Variant Server ESR1_000050 44/13006 1/8600 43/4406
1 c.936C>T r.(=) p.(=) g.152265483C>T Copied from the Exome Variant Server ESR1_000052 1/13006 1/8600 0/4406
1 c.939C>A r.(?) p.(Asp313Glu) g.152265486C>A Copied from the Exome Variant Server ESR1_000054 4/13006 0/8600 4/4406
1 c.975G>C N/A N/A g.152265522G>C Copied from the Exome Variant Server ESR1_000056 10592/13006 6659/8600 3933/4406
1 c.987C>T r.(=) p.(=) g.152265534C>T Copied from the Exome Variant Server ESR1_000058 1/13006 0/8600 1/4406
1 c.1032C>T r.(=) p.(=) g.152265579C>T Copied from the Exome Variant Server ESR1_000060 4/13006 0/8600 4/4406
1 c.1088G>A r.(?) p.(Arg363Lys) g.152265635G>A Copied from the Exome Variant Server ESR1_000062 1/13006 1/8600 0/4406
1 c.1096+15C>T r.(=) p.(=) g.152265658C>T Copied from the Exome Variant Server ESR1_000064 87/13006 0/8600 87/4406
1 c.1096+16G>A r.(=) p.(=) g.152265659G>A Copied from the Exome Variant Server ESR1_000066 523/13006 20/8600 503/4406
1 c.1097-50A>C r.(=) p.(=) g.152332741A>C Copied from the Exome Variant Server ESR1_000068 4/13004 0/8598 4/4406
1 c.1097-47G>A r.(=) p.(=) g.152332744G>A Copied from the Exome Variant Server ESR1_000070 29/13004 24/8598 5/4406
1 c.1097-45G>A r.(=) p.(=) g.152332746G>A Copied from the Exome Variant Server ESR1_000049 1/13004 1/8598 0/4406
1 c.1097-29T>A r.(=) p.(=) g.152332762T>A Copied from the Exome Variant Server ESR1_000051 1/13004 0/8598 1/4406
1 c.1102G>C r.(?) p.(Val368Leu) g.152332796G>C Copied from the Exome Variant Server ESR1_000053 1/13006 0/8600 1/4406
1 c.1131C>T r.(=) p.(=) g.152332825C>T Copied from the Exome Variant Server ESR1_000055 14/13006 14/8600 0/4406
1 c.1222T>C r.(=) p.(=) g.152332916T>C Copied from the Exome Variant Server ESR1_000057 1/13006 1/8600 0/4406
1 c.1235+41A>G r.(=) p.(=) g.152332970A>G Copied from the Exome Variant Server ESR1_000059 19/13006 0/8600 19/4406
1 c.1236-39_1236-38insT r.(=) p.(=) g.152382087_152382088insT Copied from the Exome Variant Server ESR1_000061 1132/11518 654/7614 478/3904
1 c.1236-36_1236-33del r.(=) p.(=) g.152382090_152382093del Copied from the Exome Variant Server ESR1_000063 49/11600 32/7650 17/3950
1 c.1236-35_1236-34insTATA r.(=) p.(=) g.152382091_152382092insTATA Copied from the Exome Variant Server ESR1_000065 16/11798 2/7772 14/4026
1 c.1316A>G r.(?) p.(Asn439Ser) g.152382206A>G Copied from the Exome Variant Server ESR1_000067 1/13006 1/8600 0/4406
1 c.1320G>A r.(=) p.(=) g.152382210G>A Copied from the Exome Variant Server ESR1_000069 7/13006 0/8600 7/4406
1 c.1365T>C r.(=) p.(=) g.152382255T>C Copied from the Exome Variant Server ESR1_000071 2/13006 2/8600 0/4406
1 c.1369+41G>A r.(=) p.(=) g.152382300G>A Copied from the Exome Variant Server ESR1_000072 1/13006 0/8600 1/4406
1 c.1369+52G>T r.(=) p.(=) g.152382311G>T Copied from the Exome Variant Server ESR1_000074 1588/7272 503/4618 1085/2654
1 c.1370-28C>T r.(=) p.(=) g.152415492C>T Copied from the Exome Variant Server ESR1_000076 1/13006 1/8600 0/4406
1 c.1370-8G>A r.(=) p.(=) g.152415512G>A Copied from the Exome Variant Server ESR1_000078 3/13006 2/8600 1/4406
1 c.1440C>G r.(?) p.(Asp480Glu) g.152415590C>G Copied from the Exome Variant Server ESR1_000080 1/13006 0/8600 1/4406
1 c.1497G>A r.(=) p.(=) g.152415647G>A Copied from the Exome Variant Server ESR1_000082 3/13006 3/8600 0/4406
1 c.1511_1512insG r.(?) p.(Ala505Glyfs*15) g.152415661_152415662insG Copied from the Exome Variant Server ESR1_000084 101/12514 67/8250 34/4264
1 c.1548C>T r.(=) p.(=) g.152415698C>T Copied from the Exome Variant Server ESR1_000086 1/13006 1/8600 0/4406
1 c.1553+6G>T r.(=) p.(=) g.152415709G>T Copied from the Exome Variant Server ESR1_000088 1/13006 0/8600 1/4406
1 c.1553+26G>A r.(=) p.(=) g.152415729G>A Copied from the Exome Variant Server ESR1_000090 1/13004 0/8600 1/4404
1 c.1553+50C>T r.(=) p.(=) g.152415753C>T Copied from the Exome Variant Server ESR1_000092 1/13004 1/8600 0/4404
1 c.1554-44G>A r.(=) p.(=) g.152419823G>A Copied from the Exome Variant Server ESR1_000094 2/13006 0/8600 2/4406
1 c.1554-42G>A r.(=) p.(=) g.152419825G>A Copied from the Exome Variant Server ESR1_000096 1/13006 0/8600 1/4406
1 c.1554-37C>T r.(=) p.(=) g.152419830C>T Copied from the Exome Variant Server ESR1_000073 1/13006 1/8600 0/4406
1 c.1554-17del r.(=) p.(=) g.152419850del Copied from the Exome Variant Server ESR1_000075 3/12518 0/8254 3/4264
1 c.1554-4A>G r.spl? p.? g.152419863A>G Copied from the Exome Variant Server ESR1_000077 1/13006 0/8600 1/4406
1 c.1569G>A r.(=) p.(=) g.152419882G>A Copied from the Exome Variant Server ESR1_000079 1/13006 1/8600 0/4406
1 c.1608C>T r.(=) p.(=) g.152419921C>T Copied from the Exome Variant Server ESR1_000081 1/13006 1/8600 0/4406
1 c.1674A>G r.(=) p.(=) g.152419987A>G Copied from the Exome Variant Server ESR1_000083 97/13006 4/8600 93/4406
1 c.1687A>G r.(?) p.(Thr563Ala) g.152420000A>G Copied from the Exome Variant Server ESR1_000085 2/13006 2/8600 0/4406
1 c.1689G>A r.(=) p.(=) g.152420002G>A Copied from the Exome Variant Server ESR1_000087 1/13006 0/8600 1/4406
1 c.1705G>A r.(?) p.(Ala569Thr) g.152420018G>A Copied from the Exome Variant Server ESR1_000089 2/13006 2/8600 0/4406
1 c.1713G>A r.(=) p.(=) g.152420026G>A Copied from the Exome Variant Server ESR1_000091 1/13006 1/8600 0/4406
1 c.1727C>T r.(?) p.(Ser576Leu) g.152420040C>T Copied from the Exome Variant Server ESR1_000093 1/13006 1/8600 0/4406
1 c.1728G>A r.(=) p.(=) g.152420041G>A Copied from the Exome Variant Server ESR1_000095 1/13006 1/8600 0/4406
1 c.1754C>T r.(?) p.(Thr585Met) g.152420067C>T Copied from the Exome Variant Server ESR1_000097 2/13006 2/8600 0/4406
1 c.1755G>A r.(=) p.(=) g.152420068G>A Copied from the Exome Variant Server ESR1_000098 3/13006 3/8600 0/4406
1 c.1769G>A r.(?) p.(Gly590Asp) g.152420082G>A Copied from the Exome Variant Server ESR1_000099 1/13006 1/8600 0/4406
1 c.1781C>T r.(?) p.(Thr594Met) g.152420094C>T Copied from the Exome Variant Server ESR1_000100 2/13006 2/8600 0/4406
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