Unique variants in gene FSHR

Information The variants shown are described using the NM_000145.3 transcript reference sequence.

125 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.-32C>G r.(=) p.(=) g.49381588G>C Copied from the Exome Variant Server FSHR_000125 1/13006 0/8600 1/4406
1 c.-29G>A r.(=) p.(=) g.49381585C>T Copied from the Exome Variant Server FSHR_000124 3370/13006 2296/8600 1074/4406
1 c.-5T>G r.(=) p.(=) g.49381561A>C Copied from the Exome Variant Server FSHR_000123 1/13006 1/8600 0/4406
1 c.7C>T r.(=) p.(=) g.49381550G>A Copied from the Exome Variant Server FSHR_000121 1/13006 0/8600 1/4406
1 c.19T>C r.(?) p.(Ser7Pro) g.49381538A>G Copied from the Exome Variant Server FSHR_000119 1/13006 0/8600 1/4406
1 c.152+17G>A r.(=) p.(=) g.49381388C>T Copied from the Exome Variant Server FSHR_000117 1/13006 0/8600 1/4406
1 c.152+46G>C r.(=) p.(=) g.49381359C>G Copied from the Exome Variant Server FSHR_000115 1/13006 1/8600 0/4406
1 c.153-38G>A r.(=) p.(=) g.49295467C>T Copied from the Exome Variant Server FSHR_000122 1/13002 0/8598 1/4404
1 c.153-34A>G r.(=) p.(=) g.49295463T>C Copied from the Exome Variant Server FSHR_000120 1/13002 1/8598 0/4404
1 c.153-31T>C r.(=) p.(=) g.49295460A>G Copied from the Exome Variant Server FSHR_000118 2/13002 2/8598 0/4404
1 c.153-9T>C r.(=) p.(=) g.49295438A>G Copied from the Exome Variant Server FSHR_000116 2/13004 0/8598 2/4406
1 c.178G>A r.(?) p.(Val60Ile) g.49295404C>T Copied from the Exome Variant Server FSHR_000114 1/13006 0/8600 1/4406
1 c.195A>C r.(=) p.(=) g.49295387T>G Copied from the Exome Variant Server FSHR_000113 2/13006 0/8600 2/4406
1 c.207T>C r.(=) p.(=) g.49295375A>G Copied from the Exome Variant Server FSHR_000112 1/13006 1/8600 0/4406
1 c.209G>C r.(?) p.(Gly70Ala) g.49295373C>G Copied from the Exome Variant Server FSHR_000111 26/13006 0/8600 26/4406
1 c.215T>A r.(?) p.(Leu72Gln) g.49295367A>T Copied from the Exome Variant Server FSHR_000110 1/13006 1/8600 0/4406
1 c.219G>A r.(=) p.(=) g.49295363C>T Copied from the Exome Variant Server FSHR_000109 1/13006 1/8600 0/4406
1 c.224+26G>A r.(=) p.(=) g.49295332C>T Copied from the Exome Variant Server FSHR_000108 1/13004 1/8598 0/4406
1 c.224+41G>A r.(=) p.(=) g.49295317C>T Copied from the Exome Variant Server FSHR_000107 8/13004 0/8598 8/4406
1 c.225-9del r.(=) p.(=) g.49247308del Copied from the Exome Variant Server FSHR_000106 3/12516 1/8250 2/4266
1 c.263C>T r.(?) p.(Ala88Val) g.49247261G>A Copied from the Exome Variant Server FSHR_000105 1/13006 1/8600 0/4406
1 c.265G>T r.(?) p.(Asp89Tyr) g.49247259C>A Copied from the Exome Variant Server FSHR_000104 7/13006 0/8600 7/4406
1 c.276C>T r.(=) p.(=) g.49247248G>A Copied from the Exome Variant Server FSHR_000102 2/13006 1/8600 1/4406
1 c.293A>G r.(?) p.(His98Arg) g.49247231T>C Copied from the Exome Variant Server FSHR_000100 1/13006 1/8600 0/4406
1 c.299+10A>C r.(=) p.(=) g.49247215T>G Copied from the Exome Variant Server FSHR_000098 23/13006 0/8600 23/4406
1 c.299+40T>C r.(=) p.(=) g.49247185A>G Copied from the Exome Variant Server FSHR_000103 1/13006 1/8600 0/4406
1 c.299+45A>T r.(=) p.(=) g.49247180T>A Copied from the Exome Variant Server FSHR_000101 1/13006 0/8600 1/4406
1 c.299+48C>A r.(=) p.(=) g.49247177G>T Copied from the Exome Variant Server FSHR_000099 1/13006 0/8600 1/4406
1 c.300-36A>G r.(=) p.(=) g.49244738T>C Copied from the Exome Variant Server FSHR_000097 2/13006 2/8600 0/4406
1 c.300-19G>A r.(=) p.(=) g.49244721C>T Copied from the Exome Variant Server FSHR_000096 1/13006 1/8600 0/4406
1 c.312G>A r.(=) p.(=) g.49244690C>T Copied from the Exome Variant Server FSHR_000095 3/13006 0/8600 3/4406
1 c.354C>A r.(?) p.(Asn118Lys) g.49244648G>T Copied from the Exome Variant Server FSHR_000094 2/13006 2/8600 0/4406
1 c.362A>G r.(?) p.(Asn121Ser) g.49244640T>C Copied from the Exome Variant Server FSHR_000093 2/13006 0/8600 2/4406
1 c.367C>G r.(?) p.(Gln123Glu) g.49244635G>C Copied from the Exome Variant Server FSHR_000092 2/13006 2/8600 0/4406
1 c.374+19T>G r.(=) p.(=) g.49244609A>C Copied from the Exome Variant Server FSHR_000091 7/13006 0/8600 7/4406
1 c.374+34G>T r.(=) p.(=) g.49244594C>A Copied from the Exome Variant Server FSHR_000090 1/13006 1/8600 0/4406
1 c.374+41T>C r.(=) p.(=) g.49244587A>G Copied from the Exome Variant Server FSHR_000089 1/13006 1/8600 0/4406
1 c.374+44T>G r.(=) p.(=) g.49244584A>C Copied from the Exome Variant Server FSHR_000088 1/13006 1/8600 0/4406
1 c.375-41C>A r.(=) p.(=) g.49217817G>T Copied from the Exome Variant Server FSHR_000087 1/13006 1/8600 0/4406
1 c.375-21T>G r.(=) p.(=) g.49217797A>C Copied from the Exome Variant Server FSHR_000086 1/13006 0/8600 1/4406
1 c.375-17A>G r.(=) p.(=) g.49217793T>C Copied from the Exome Variant Server FSHR_000085 7/13006 0/8600 7/4406
1 c.375-13T>C r.(=) p.(=) g.49217789A>G Copied from the Exome Variant Server FSHR_000084 1/13006 1/8600 0/4406
1 c.395T>C r.(?) p.(Ile132Thr) g.49217756A>G Copied from the Exome Variant Server FSHR_000083 1/13006 1/8600 0/4406
1 c.399G>A r.(=) p.(=) g.49217752C>T Copied from the Exome Variant Server FSHR_000082 10/13006 1/8600 9/4406
1 c.446+30T>A r.(=) p.(=) g.49217675A>T Copied from the Exome Variant Server FSHR_000081 1/13006 1/8600 0/4406
1 c.446+31C>G r.(=) p.(=) g.49217674G>C Copied from the Exome Variant Server FSHR_000080 1/13006 0/8600 1/4406
1 c.446+37T>A r.(=) p.(=) g.49217668A>T Copied from the Exome Variant Server FSHR_000079 2/13006 0/8600 2/4406
1 c.446+44C>G r.(=) p.(=) g.49217661G>C Copied from the Exome Variant Server FSHR_000078 1/13006 0/8600 1/4406
1 c.446+46G>A r.(=) p.(=) g.49217659C>T Copied from the Exome Variant Server FSHR_000077 20/13006 20/8600 0/4406
1 c.446+58G>A r.(=) p.(=) g.49217647C>T Copied from the Exome Variant Server FSHR_000076 17/4566 1/3182 16/1384
1 c.446+60C>T r.(=) p.(=) g.49217645G>A Copied from the Exome Variant Server FSHR_000075 4/4566 0/3182 4/1384
1 c.447-32T>G r.(=) p.(=) g.49216225A>C Copied from the Exome Variant Server FSHR_000074 3/13004 0/8598 3/4406
1 c.455A>C r.(?) p.(Gln152Pro) g.49216185T>G Copied from the Exome Variant Server FSHR_000073 1/13006 1/8600 0/4406
1 c.471C>G r.(?) p.(Ile157Met) g.49216169G>C Copied from the Exome Variant Server FSHR_000071 1/13006 1/8600 0/4406
1 c.474C>A r.(?) p.(His158Gln) g.49216166G>T Copied from the Exome Variant Server FSHR_000069 1/13004 0/8600 1/4404
1 c.485G>A r.(?) p.(Arg162Lys) g.49216155C>T Copied from the Exome Variant Server FSHR_000067 46/13004 40/8600 6/4404
1 c.496G>T r.(?) p.(Val166Leu) g.49216144C>A Copied from the Exome Variant Server FSHR_000065 5/13006 5/8600 0/4406
1 c.517G>T r.(?) p.(Val173Leu) g.49216123C>A Copied from the Exome Variant Server FSHR_000063 2/13004 0/8600 2/4404
1 c.524+19_524+20insA r.(=) p.(=) g.49216096_49216097insT Copied from the Exome Variant Server FSHR_000060 2/12516 1/8254 1/4262
1 c.524+24A>G r.(=) p.(=) g.49216092T>C Copied from the Exome Variant Server FSHR_000058 1/13004 1/8600 0/4404
1 c.524+29G>A r.(=) p.(=) g.49216087C>T Copied from the Exome Variant Server FSHR_000056 2/13004 0/8600 2/4404
1 c.524+38G>A r.(=) p.(=) g.49216078C>T Copied from the Exome Variant Server FSHR_000054 1/13002 1/8598 0/4404
1 c.525-37T>C r.(=) p.(=) g.49210342A>G Copied from the Exome Variant Server FSHR_000053 279/13004 1/8600 278/4404
1 c.525-27G>T r.(=) p.(=) g.49210332C>A Copied from the Exome Variant Server FSHR_000051 3/13004 0/8600 3/4404
1 c.525-13C>T r.(=) p.(=) g.49210318G>A Copied from the Exome Variant Server FSHR_000049 1/13006 1/8600 0/4406
1 c.592C>G r.(?) p.(Leu198Val) g.49210238G>C Copied from the Exome Variant Server FSHR_000047 1/13006 1/8600 0/4406
1 c.593+1G>C r.spl? p.? g.49210236C>G Copied from the Exome Variant Server FSHR_000045 1/13006 0/8600 1/4406
1 c.593+3A>G r.spl? p.? g.49210234T>C Copied from the Exome Variant Server FSHR_000043 1/13006 1/8600 0/4406
1 c.593+19T>C r.(=) p.(=) g.49210218A>G Copied from the Exome Variant Server FSHR_000041 1/13006 1/8600 0/4406
1 c.594-43T>C r.(=) p.(=) g.49210168A>G Copied from the Exome Variant Server FSHR_000039 2/13006 1/8600 1/4406
1 c.594-30del r.(=) p.(=) g.49210155del Copied from the Exome Variant Server FSHR_000037 39/12520 34/8254 5/4266
1 c.594-10C>G r.(=) p.(=) g.49210135G>C Copied from the Exome Variant Server FSHR_000035 2/13006 0/8600 2/4406
1 c.594-6C>T r.(=) p.(=) g.49210131G>A Copied from the Exome Variant Server FSHR_000033 1/13006 1/8600 0/4406
1 c.603C>T r.(=) p.(=) g.49210116G>A Copied from the Exome Variant Server FSHR_000031 123/13006 29/8600 94/4406
1 c.604G>T r.(?) p.(Asp202Tyr) g.49210115C>A Copied from the Exome Variant Server FSHR_000028 1/13006 1/8600 0/4406
1 c.642C>T r.(=) p.(=) g.49210077G>A Copied from the Exome Variant Server FSHR_000072 1/13006 0/8600 1/4406
1 c.668+11T>C r.(=) p.(=) g.49210040A>G Copied from the Exome Variant Server FSHR_000070 1/13006 0/8600 1/4406
1 c.668+33G>C r.(=) p.(=) g.49210018C>G Copied from the Exome Variant Server FSHR_000068 1/13006 0/8600 1/4406
1 c.669-23A>G r.(=) p.(=) g.49196045T>C Copied from the Exome Variant Server FSHR_000066 1/13006 1/8600 0/4406
1 c.669-13T>C r.(=) p.(=) g.49196035A>G Copied from the Exome Variant Server FSHR_000064 1/13006 1/8600 0/4406
1 c.669-3T>C r.spl? p.? g.49196025A>G Copied from the Exome Variant Server FSHR_000062 1/13006 1/8600 0/4406
1 c.685A>G r.(?) p.(Arg229Gly) g.49196006T>C Copied from the Exome Variant Server FSHR_000061 1/13006 1/8600 0/4406
1 c.688A>G r.(?) p.(Ile230Val) g.49196003T>C Copied from the Exome Variant Server FSHR_000059 1/13006 1/8600 0/4406
1 c.756A>T r.(?) p.(Leu252Phe) g.49195935T>A Copied from the Exome Variant Server FSHR_000057 1/13006 1/8600 0/4406
1 c.786C>T r.(=) p.(=) g.49195905G>A Copied from the Exome Variant Server FSHR_000055 13/13006 2/8600 11/4406
1 c.787G>A r.(?) p.(Ala263Thr) g.49195904C>T Copied from the Exome Variant Server FSHR_000052 1/13006 1/8600 0/4406
1 c.847C>T r.(?) p.(Arg283Trp) g.49195844G>A Copied from the Exome Variant Server FSHR_000050 2/13006 2/8600 0/4406
1 c.854+1G>A r.spl? p.? g.49195836C>T Copied from the Exome Variant Server FSHR_000048 1/13006 1/8600 0/4406
1 c.854+45G>A r.(=) p.(=) g.49195792C>T Copied from the Exome Variant Server FSHR_000046 5/13006 0/8600 5/4406
1 c.919G>A r.(?) p.(Ala307Thr) g.49191041C>T Copied from the Exome Variant Server FSHR_000044 5913/13006 4657/8600 1256/4406
1 c.956A>G r.(?) p.(Glu319Gly) g.49191004T>C Copied from the Exome Variant Server FSHR_000042 2/13006 2/8600 0/4406
1 c.984G>C r.(?) p.(Met328Ile) g.49190976C>G Copied from the Exome Variant Server FSHR_000040 1/13006 1/8600 0/4406
1 c.987G>A r.(=) p.(=) g.49190973C>T Copied from the Exome Variant Server FSHR_000038 2/13006 0/8600 2/4406
1 c.1002C>T r.(=) p.(=) g.49190958G>A Copied from the Exome Variant Server FSHR_000036 1/13006 0/8600 1/4406
1 c.1009T>C r.(=) p.(=) g.49190951A>G Copied from the Exome Variant Server FSHR_000034 5/13006 1/8600 4/4406
1 c.1022T>C r.(?) p.(Val341Ala) g.49190938A>G Copied from the Exome Variant Server FSHR_000032 10/13006 9/8600 1/4406
1 c.1145T>C r.(?) p.(Ile382Thr) g.49190815A>G Copied from the Exome Variant Server FSHR_000030 1/13006 0/8600 1/4406
1 c.1149G>C r.(=) p.(=) g.49190811C>G Copied from the Exome Variant Server FSHR_000029 2/13006 2/8600 0/4406
1 c.1330G>A r.(?) p.(Ala444Thr) g.49190630C>T Copied from the Exome Variant Server FSHR_000027 4/13006 3/8600 1/4406
1 c.1336G>A r.(?) p.(Gly446Ser) g.49190624C>T Copied from the Exome Variant Server FSHR_000026 1/13006 1/8600 0/4406
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