All transcript variants in gene GLMN

Information The variants shown are described using the NM_053274.2 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-30-20A>G r.(=) p.(=) g.92763606T>C Copied from the Exome Variant Server GLMN_000113 1/12974 1/8574 0/4400
?/? c.-24G>A r.(=) p.(=) g.92763580C>T Copied from the Exome Variant Server GLMN_000112 1/12980 1/8578 0/4402
?/? c.29T>C r.(?) p.(Ile10Thr) g.92763528A>G Copied from the Exome Variant Server GLMN_000111 2/12984 1/8580 1/4404
?/? c.39+31C>T r.(=) p.(=) g.92763487G>A Copied from the Exome Variant Server GLMN_000110 1/12950 0/8554 1/4396
?/? c.39+49G>A r.(=) p.(=) g.92763469C>T Copied from the Exome Variant Server GLMN_000109 1/12918 1/8542 0/4376
?/? c.40-34del r.(=) p.(=) g.92763120del Copied from the Exome Variant Server GLMN_000108 11/12482 7/8242 4/4240
?/? c.40-33G>A r.(=) p.(=) g.92763119C>T Copied from the Exome Variant Server GLMN_000107 3/12994 0/8596 3/4398
?/? c.40-17T>G r.(=) p.(=) g.92763103A>C Copied from the Exome Variant Server GLMN_000106 23/13000 0/8596 23/4404
?/? c.58G>A r.(?) p.(Asp20Asn) g.92763068C>T Copied from the Exome Variant Server GLMN_000105 8/13006 0/8600 8/4406
?/? c.95C>T r.(?) p.(Ala32Val) g.92763031G>A Copied from the Exome Variant Server GLMN_000104 2/13006 2/8600 0/4406
?/? c.105A>T r.(?) p.(Arg35Ser) g.92763021T>A Copied from the Exome Variant Server GLMN_000103 1/13006 0/8600 1/4406
?/? c.106T>C r.(?) p.(Cys36Arg) g.92763020A>G Copied from the Exome Variant Server GLMN_000102 1/13006 1/8600 0/4406
?/? c.118G>C r.(?) p.(Gly40Arg) g.92763008C>G Copied from the Exome Variant Server GLMN_000101 2/13006 1/8600 1/4406
?/? c.144T>G r.(?) p.(Ile48Met) g.92762982A>C Copied from the Exome Variant Server GLMN_000100 14/13006 14/8600 0/4406
?/? c.165+10A>G r.(=) p.(=) g.92762951T>C Copied from the Exome Variant Server GLMN_000099 34/13006 30/8600 4/4406
?/? c.165+16G>A r.(=) p.(=) g.92762945C>T Copied from the Exome Variant Server GLMN_000098 1/13006 1/8600 0/4406
?/? c.165+21T>C r.(=) p.(=) g.92762940A>G Copied from the Exome Variant Server GLMN_000097 1/13006 1/8600 0/4406
?/? c.165+50A>G r.(=) p.(=) g.92762911T>C Copied from the Exome Variant Server GLMN_000096 3/13006 2/8600 1/4406
?/? c.166-51G>A r.(=) p.(=) g.92757145C>T Copied from the Exome Variant Server GLMN_000095 1/13006 1/8600 0/4406
?/? c.166-13A>T r.(=) p.(=) g.92757107T>A Copied from the Exome Variant Server GLMN_000094 2/13006 2/8600 0/4406
?/? c.166-2A>G r.spl? p.? g.92757096T>C Copied from the Exome Variant Server GLMN_000093 1/13006 0/8600 1/4406
?/? c.271G>A r.(?) p.(Asp91Asn) g.92756989C>T Copied from the Exome Variant Server GLMN_000092 18/13004 16/8598 2/4406
?/? c.286-4A>G r.spl? p.? g.92755867T>C Copied from the Exome Variant Server GLMN_000091 1/13002 0/8598 1/4404
?/? c.307T>C r.(=) p.(=) g.92755842A>G Copied from the Exome Variant Server GLMN_000090 1/13004 1/8598 0/4406
?/? c.314G>T r.(?) p.(Gly105Val) g.92755835C>A Copied from the Exome Variant Server GLMN_000088 1/13006 0/8600 1/4406
?/? c.374T>G r.(?) p.(Leu125Trp) g.92755775A>C Copied from the Exome Variant Server GLMN_000086 1/13004 1/8598 0/4406
?/? c.375G>A r.(=) p.(=) g.92755774C>T Copied from the Exome Variant Server GLMN_000084 1/13004 1/8598 0/4406
?/? c.394+17T>C r.(=) p.(=) g.92755738A>G Copied from the Exome Variant Server GLMN_000082 2/13004 0/8598 2/4406
?/? c.394+33G>A r.(=) p.(=) g.92755722C>T Copied from the Exome Variant Server GLMN_000080 4/13004 0/8598 4/4406
?/? c.395-27T>C r.(=) p.(=) g.92754735A>G Copied from the Exome Variant Server GLMN_000078 1/13006 0/8600 1/4406
?/? c.417G>A r.(=) p.(=) g.92754686C>T Copied from the Exome Variant Server GLMN_000076 1/13006 1/8600 0/4406
?/? c.436G>A r.(?) p.(Ala146Thr) g.92754667C>T Copied from the Exome Variant Server GLMN_000074 71/13006 60/8600 11/4406
?/? c.502A>G r.(?) p.(Met168Val) g.92754601T>C Copied from the Exome Variant Server GLMN_000072 1/13006 1/8600 0/4406
?/? c.519T>C r.(=) p.(=) g.92754584A>G Copied from the Exome Variant Server GLMN_000070 25/13006 0/8600 25/4406
?/? c.538T>G r.(?) p.(Leu180Val) g.92754565A>C Copied from the Exome Variant Server GLMN_000068 1/13006 1/8600 0/4406
?/? c.542T>C r.(?) p.(Ile181Thr) g.92754561A>G Copied from the Exome Variant Server GLMN_000065 1/13006 0/8600 1/4406
?/? c.571G>T r.(?) p.(Val191Phe) g.92754532C>A Copied from the Exome Variant Server GLMN_000062 1/13006 1/8600 0/4406
?/? c.625C>T r.(=) p.(=) g.92754478G>A Copied from the Exome Variant Server GLMN_000059 1/13006 0/8600 1/4406
?/? c.632+45G>A r.(=) p.(=) g.92754426C>T Copied from the Exome Variant Server GLMN_000089 7/12958 7/8576 0/4382
?/? c.633-19C>T r.(=) p.(=) g.92752168G>A Copied from the Exome Variant Server GLMN_000087 7/13004 0/8598 7/4406
?/? c.633-8T>C r.(=) p.(=) g.92752157A>G Copied from the Exome Variant Server GLMN_000085 2/13006 2/8600 0/4406
?/? c.736-47A>G r.(=) p.(=) g.92737256T>C Copied from the Exome Variant Server GLMN_000083 3/13002 3/8598 0/4404
?/? c.736-27T>C r.(=) p.(=) g.92737236A>G Copied from the Exome Variant Server GLMN_000081 1/13006 0/8600 1/4406
?/? c.765C>T r.(=) p.(=) g.92737180G>A Copied from the Exome Variant Server GLMN_000079 2/13006 2/8600 0/4406
?/? c.834_835insGAA r.(?) p.(Glu278dup) g.92737110_92737111insTTC Copied from the Exome Variant Server GLMN_000077 1/12520 1/8254 0/4266
?/? c.844_847del r.(?) p.(Leu282Glnfs*10) g.92737098_92737101del Copied from the Exome Variant Server GLMN_000075 43/12520 27/8254 16/4266
?/? c.856A>G r.(?) p.(Met286Val) g.92737089T>C Copied from the Exome Variant Server GLMN_000073 6/13006 4/8600 2/4406
?/? c.870A>G r.(=) p.(=) g.92737075T>C Copied from the Exome Variant Server GLMN_000071 1/13006 1/8600 0/4406
?/? c.899T>C r.(?) p.(Ile300Thr) g.92737046A>G Copied from the Exome Variant Server GLMN_000069 17/13006 1/8600 16/4406
?/? c.913A>G r.(?) p.(Met305Val) g.92737032T>C Copied from the Exome Variant Server GLMN_000067 1/13006 0/8600 1/4406
?/? c.924-74del r.(=) p.(=) g.92735407del Copied from the Exome Variant Server GLMN_000064 7/12426 4/8216 3/4210
?/? c.924-34_924-33insGT r.(=) p.(=) g.92735366_92735367insAC Copied from the Exome Variant Server GLMN_000061 35/12504 10/8248 25/4256
?/? c.924-26A>G r.(=) p.(=) g.92735359T>C Copied from the Exome Variant Server GLMN_000058 5909/13004 3849/8598 2060/4406
?/? c.945T>C r.(=) p.(=) g.92735312A>G Copied from the Exome Variant Server GLMN_000056 1/13004 1/8600 0/4404
?/? c.956A>C r.(?) p.(His319Pro) g.92735301T>G Copied from the Exome Variant Server GLMN_000054 17/13004 0/8600 17/4404
?/? c.977+7T>A r.(=) p.(=) g.92735273A>T Copied from the Exome Variant Server GLMN_000052 207/13002 7/8596 200/4406
?/? c.977+9G>A r.(=) p.(=) g.92735271C>T Copied from the Exome Variant Server GLMN_000050 6/13002 0/8596 6/4406
?/? c.978-10T>G r.(=) p.(=) g.92733702A>C Copied from the Exome Variant Server GLMN_000048 3/12734 0/8452 3/4282
?/? c.1007T>C r.(?) p.(Leu336Ser) g.92733663A>G Copied from the Exome Variant Server GLMN_000046 170/12950 0/8556 170/4394
?/? c.1008+4A>G r.spl? p.? g.92733658T>C Copied from the Exome Variant Server GLMN_000044 1/12952 0/8556 1/4396
?/? c.1009-44G>A r.(=) p.(=) g.92733603C>T Copied from the Exome Variant Server GLMN_000043 1/12942 1/8548 0/4394
?/? c.1022A>G r.(?) p.(Asn341Ser) g.92733546T>C Copied from the Exome Variant Server GLMN_000041 1/12976 1/8580 0/4396
?/? c.1057T>C r.(?) p.(Tyr353His) g.92733511A>G Copied from the Exome Variant Server GLMN_000038 15/12972 13/8578 2/4394
?/? c.1075A>T r.(?) p.(Lys359*) g.92733493T>A Copied from the Exome Variant Server GLMN_000066 1/12974 0/8578 1/4396
?/? c.1098+22A>G r.(=) p.(=) g.92733448T>C Copied from the Exome Variant Server GLMN_000063 11/12924 0/8558 11/4366
?/? c.1098+33A>G r.(=) p.(=) g.92733437T>C Copied from the Exome Variant Server GLMN_000060 2/12928 0/8554 2/4374
?/? c.1099-28T>A r.(=) p.(=) g.92732326A>T Copied from the Exome Variant Server GLMN_000057 1/12978 1/8576 0/4402
?/? c.1099-4C>T r.spl? p.? g.92732302G>A Copied from the Exome Variant Server GLMN_000055 14/12984 0/8580 14/4404
?/? c.1141-36T>C r.(=) p.(=) g.92732085A>G Copied from the Exome Variant Server GLMN_000053 1/12904 1/8548 0/4356
?/? c.1146A>G r.(=) p.(=) g.92732044T>C Copied from the Exome Variant Server GLMN_000051 1/12998 0/8594 1/4404
?/? c.1159A>G r.(?) p.(Met387Val) g.92732031T>C Copied from the Exome Variant Server GLMN_000049 108/12998 0/8594 108/4404
?/? c.1168C>T r.(=) p.(=) g.92732022G>A Copied from the Exome Variant Server GLMN_000047 1/13002 1/8598 0/4404
?/? c.1204A>G r.(?) p.(Thr402Ala) g.92731986T>C Copied from the Exome Variant Server GLMN_000045 1/13000 1/8596 0/4404
?/? c.1214+7A>T r.(=) p.(=) g.92731969T>A Copied from the Exome Variant Server GLMN_000042 2/13000 2/8596 0/4404
?/? c.1214+23T>G r.(=) p.(=) g.92731953A>C Copied from the Exome Variant Server GLMN_000040 1/12992 1/8590 0/4402
?/? c.1214+37T>C r.(=) p.(=) g.92731939A>G Copied from the Exome Variant Server GLMN_000039 1/12992 1/8592 0/4400
?/? c.1224G>C r.(?) p.(Leu408Phe) g.92730186C>G Copied from the Exome Variant Server GLMN_000037 1/12990 0/8584 1/4406
?/? c.1229C>T r.(?) p.(Thr410Ile) g.92730181G>A Copied from the Exome Variant Server GLMN_000036 1/12990 1/8586 0/4404
?/? c.1232G>C r.(?) p.(Ser411Thr) g.92730178C>G Copied from the Exome Variant Server GLMN_000035 1/12988 0/8584 1/4404
?/? c.1266A>G r.(=) p.(=) g.92730144T>C Copied from the Exome Variant Server GLMN_000034 1/12986 1/8584 0/4402
?/? c.1299+39C>T r.(=) p.(=) g.92730072G>A Copied from the Exome Variant Server GLMN_000033 1/12982 1/8582 0/4400
?/? c.1299+40G>A r.(=) p.(=) g.92730071C>T Copied from the Exome Variant Server GLMN_000032 1/12982 1/8582 0/4400
?/? c.1300-20A>C r.(=) p.(=) g.92729309T>G Copied from the Exome Variant Server GLMN_000031 3/13006 0/8600 3/4406
?/? c.1316A>G r.(?) p.(Lys439Arg) g.92729273T>C Copied from the Exome Variant Server GLMN_000030 1/13006 1/8600 0/4406
?/? c.1323_1324insT r.(?) p.(Thr442Tyrfs*10) g.92729265_92729266insA Copied from the Exome Variant Server GLMN_000029 4/12518 0/8254 4/4264
?/? c.1346_1347insC r.(?) p.(Leu450Serfs*2) g.92729242_92729243insG Copied from the Exome Variant Server GLMN_000028 1/12520 1/8254 0/4266
?/? c.1410-43A>G r.(=) p.(=) g.92728526T>C Copied from the Exome Variant Server GLMN_000027 1/12756 1/8472 0/4284
?/? c.1410-24_1410-21del r.(=) p.(=) g.92728504_92728507del Copied from the Exome Variant Server GLMN_000026 18/12322 1/8136 17/4186
?/? c.1410-15_1410-14del r.(=) p.(=) g.92728497_92728498del Copied from the Exome Variant Server GLMN_000025 37/12328 9/8134 28/4194
?/? c.1469A>G r.(?) p.(Asn490Ser) g.92728424T>C Copied from the Exome Variant Server GLMN_000024 14/12974 0/8588 14/4386
?/? c.1473+12A>C r.(=) p.(=) g.92728408T>G Copied from the Exome Variant Server GLMN_000023 2/12974 0/8584 2/4390
?/? c.1473+13T>C r.(=) p.(=) g.92728407A>G Copied from the Exome Variant Server GLMN_000022 1/12974 0/8584 1/4390
?/? c.1474-26A>G r.(=) p.(=) g.92713572T>C Copied from the Exome Variant Server GLMN_000021 2/12974 2/8576 0/4398
?/? c.1474-19A>T r.(=) p.(=) g.92713565T>A Copied from the Exome Variant Server GLMN_000020 1/12972 1/8574 0/4398
?/? c.1474-15_1474-12del r.(=) p.(=) g.92713558_92713561del Copied from the Exome Variant Server GLMN_000019 20/12484 17/8224 3/4260
?/? c.1474-5A>T r.spl? p.? g.92713551T>A Copied from the Exome Variant Server GLMN_000018 1/12974 0/8572 1/4402
?/? c.1482A>T r.(?) p.(Leu494Phe) g.92713538T>A Copied from the Exome Variant Server GLMN_000017 2/12982 2/8578 0/4404
?/? c.1582C>T r.(?) p.(Gln528*) g.92713438G>A Copied from the Exome Variant Server GLMN_000016 1/12986 1/8582 0/4404
?/? c.1585+16T>C r.(=) p.(=) g.92713419A>G Copied from the Exome Variant Server GLMN_000015 5/12974 4/8578 1/4396
?/? c.1588G>A r.(?) p.(Ala530Thr) g.92712699C>T Copied from the Exome Variant Server GLMN_000014 1/13006 1/8600 0/4406
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