Unique variants in gene PRDM16

Information The variants shown are described using the NM_022114.3 transcript reference sequence.

335 entries on 4 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>A r.(=) p.(=) g.2985810C>A Copied from the Exome Variant Server PRDM16_000001 14/12360 0/8318 14/4042
1 c.21G>A r.(=) p.(=) g.2985844G>A Copied from the Exome Variant Server PRDM16_000002 1/12140 0/8234 1/3906
1 c.37+25C>G r.(=) p.(=) g.2985885C>G Copied from the Exome Variant Server PRDM16_000003 3536/11612 3033/8054 503/3558
1 c.38-43G>A r.(=) p.(=) g.3102646G>A Copied from the Exome Variant Server PRDM16_000004 5/12704 0/8466 5/4238
1 c.38-37C>T r.(=) p.(=) g.3102652C>T Copied from the Exome Variant Server PRDM16_000005 58/12784 2/8506 56/4278
1 c.38-15C>T r.(=) p.(=) g.3102674C>T Copied from the Exome Variant Server PRDM16_000006 68/12846 3/8524 65/4322
1 c.38-14G>A r.(=) p.(=) g.3102675G>A Copied from the Exome Variant Server PRDM16_000007 8/12846 8/8522 0/4324
1 c.49G>A r.(?) p.(Val17Ile) g.3102700G>A Copied from the Exome Variant Server PRDM16_000008 13/12856 0/8508 13/4348
1 c.77G>A r.(?) p.(Arg26Gln) g.3102728G>A Copied from the Exome Variant Server PRDM16_000009 1/12854 1/8504 0/4350
1 c.84G>A r.(=) p.(=) g.3102735G>A Copied from the Exome Variant Server PRDM16_000010 1/12858 1/8504 0/4354
1 c.100G>A r.(?) p.(Ala34Thr) g.3102751G>A Copied from the Exome Variant Server PRDM16_000011 26/12836 21/8496 5/4340
1 c.102G>A r.(=) p.(=) g.3102753G>A Copied from the Exome Variant Server PRDM16_000012 4/12842 0/8498 4/4344
1 c.109G>A r.(?) p.(Glu37Lys) g.3102760G>A Copied from the Exome Variant Server PRDM16_000013 1/12854 1/8504 0/4350
1 c.114C>T r.(=) p.(=) g.3102765C>T Copied from the Exome Variant Server PRDM16_000014 2/12858 2/8506 0/4352
1 c.142G>A r.(?) p.(Val48Met) g.3102793G>A Copied from the Exome Variant Server PRDM16_000015 5/12750 5/8454 0/4296
1 c.171C>T r.(=) p.(=) g.3102822C>T Copied from the Exome Variant Server PRDM16_000016 1/12552 0/8356 1/4196
1 c.197C>T r.(?) p.(Ser66Leu) g.3102848C>T Copied from the Exome Variant Server PRDM16_000017 2/12410 2/8302 0/4108
1 c.198G>A r.(=) p.(=) g.3102849G>A Copied from the Exome Variant Server PRDM16_000018 1/12372 1/8298 0/4074
1 c.201G>A r.(=) p.(=) g.3102852G>A Copied from the Exome Variant Server PRDM16_000019 24/12382 24/8308 0/4074
1 c.229G>C r.(?) p.(Asp77His) g.3102880G>C Copied from the Exome Variant Server PRDM16_000020 1/12226 1/8276 0/3950
1 c.237G>A r.(=) p.(=) g.3102888G>A Copied from the Exome Variant Server PRDM16_000021 2/12168 0/8258 2/3910
1 c.252C>T r.(=) p.(=) g.3102903C>T Copied from the Exome Variant Server PRDM16_000022 1/12120 0/8250 1/3870
1 c.342G>A r.(=) p.(=) g.3102993G>A Copied from the Exome Variant Server PRDM16_000023 3/12064 0/8214 3/3850
1 c.387+6C>T r.(=) p.(=) g.3103044C>T Copied from the Exome Variant Server PRDM16_000024 40/12090 2/8236 38/3854
1 c.387+12C>T r.(=) p.(=) g.3103050C>T Copied from the Exome Variant Server PRDM16_000025 3/12012 0/8196 3/3816
1 c.387+21A>G r.(=) p.(=) g.3103059A>G Copied from the Exome Variant Server PRDM16_000026 1/11838 0/8088 1/3750
1 c.388-42del r.(=) p.(=) g.3160609del Copied from the Exome Variant Server PRDM16_000027 23/11644 14/7938 9/3706
1 c.399G>A r.(=) p.(=) g.3160662G>A Copied from the Exome Variant Server PRDM16_000028 2/12466 2/8404 0/4062
1 c.403G>A r.(?) p.(Val135Met) g.3160666G>A Copied from the Exome Variant Server PRDM16_000029 2/12510 2/8416 0/4094
1 c.414G>A r.(=) p.(=) g.3160677G>A Copied from the Exome Variant Server PRDM16_000030 1/12576 1/8428 0/4148
1 c.429C>T r.(=) p.(=) g.3160692C>T Copied from the Exome Variant Server PRDM16_000031 13/12606 0/8434 13/4172
1 c.438+15C>T r.(=) p.(=) g.3160716C>T Copied from the Exome Variant Server PRDM16_000032 6/12614 0/8432 6/4182
1 c.438+16C>G r.(=) p.(=) g.3160717C>G Copied from the Exome Variant Server PRDM16_000033 1/12618 0/8432 1/4186
1 c.438+19C>T r.(=) p.(=) g.3160720C>T Copied from the Exome Variant Server PRDM16_000034 1/12614 0/8430 1/4184
1 c.438+22C>T r.(=) p.(=) g.3160723C>T Copied from the Exome Variant Server PRDM16_000035 1/12622 1/8428 0/4194
1 c.438+23G>A r.(=) p.(=) g.3160724G>A Copied from the Exome Variant Server PRDM16_000036 23/12614 0/8422 23/4192
1 c.438+27C>T r.(=) p.(=) g.3160728C>T Copied from the Exome Variant Server PRDM16_000037 1/12612 1/8424 0/4188
1 c.438+38C>T r.(=) p.(=) g.3160739C>T Copied from the Exome Variant Server PRDM16_000038 1/12580 1/8420 0/4160
1 c.438+39G>A r.(=) p.(=) g.3160740G>A Copied from the Exome Variant Server PRDM16_000039 32/12576 0/8416 32/4160
1 c.439-51A>T r.(=) p.(=) g.3301665A>T Copied from the Exome Variant Server PRDM16_000040 1/12804 1/8528 0/4276
1 c.439-51_439-46del r.(=) p.(=) g.3301665_3301670del Copied from the Exome Variant Server PRDM16_000041 3/12280 3/8168 0/4112
1 c.439-44_439-41del r.(=) p.(=) g.3301672_3301675del Copied from the Exome Variant Server PRDM16_000042 17/12286 5/8174 12/4112
1 c.439-23C>T r.(=) p.(=) g.3301693C>T Copied from the Exome Variant Server PRDM16_000043 2/12858 2/8552 0/4306
1 c.439-21G>C r.(=) p.(=) g.3301695G>C Copied from the Exome Variant Server PRDM16_000044 95/12858 0/8552 95/4306
1 c.439-17C>T r.(=) p.(=) g.3301699C>T Copied from the Exome Variant Server PRDM16_000045 3/12854 0/8550 3/4304
1 c.439-16G>A r.(=) p.(=) g.3301700G>A Copied from the Exome Variant Server PRDM16_000046 3/12852 2/8550 1/4302
1 c.444C>T r.(=) p.(=) g.3301721C>T Copied from the Exome Variant Server PRDM16_000047 2632/12846 2281/8548 351/4298
1 c.451C>G r.(?) p.(Leu151Val) g.3301728C>G Copied from the Exome Variant Server PRDM16_000048 2/12854 2/8552 0/4302
1 c.481A>G r.(?) p.(Asn161Asp) g.3301758A>G Copied from the Exome Variant Server PRDM16_000049 1/12866 0/8550 1/4316
1 c.495T>C r.(=) p.(=) g.3301772T>C Copied from the Exome Variant Server PRDM16_000050 1/12868 0/8536 1/4332
1 c.524C>T r.(?) p.(Ala175Val) g.3301801C>T Copied from the Exome Variant Server PRDM16_000051 1/12878 1/8530 0/4348
1 c.553A>G r.(?) p.(Met185Val) g.3301830A>G Copied from the Exome Variant Server PRDM16_000052 3/12758 0/8488 3/4270
1 c.567T>G r.(?) p.(Ser189Arg) g.3301844T>G Copied from the Exome Variant Server PRDM16_000053 1/12694 0/8482 1/4212
1 c.573+9G>A r.(=) p.(=) g.3301859G>A Copied from the Exome Variant Server PRDM16_000054 2/12614 2/8434 0/4180
1 c.573+12C>G r.(=) p.(=) g.3301862C>G Copied from the Exome Variant Server PRDM16_000055 1/12618 0/8438 1/4180
1 c.573+17A>G r.(=) p.(=) g.3301867A>G Copied from the Exome Variant Server PRDM16_000056 17/12586 1/8422 16/4164
1 c.574-23_574-20del r.(=) p.(=) g.3313032_3313035del Copied from the Exome Variant Server PRDM16_000057 40/12022 26/8042 14/3980
1 c.598A>G r.(?) p.(Ile200Val) g.3313079A>G Copied from the Exome Variant Server PRDM16_000058 1/12594 1/8436 0/4158
1 c.615G>A r.(=) p.(=) g.3313096G>A Copied from the Exome Variant Server PRDM16_000059 1/12580 0/8416 1/4164
1 c.627C>T r.(=) p.(=) g.3313108C>T Copied from the Exome Variant Server PRDM16_000060 238/12564 3/8400 235/4164
1 c.646C>A r.(?) p.(Pro216Thr) g.3313127C>A Copied from the Exome Variant Server PRDM16_000061 1/12462 1/8368 0/4094
1 c.676+21C>T r.(=) p.(=) g.3313178C>T Copied from the Exome Variant Server PRDM16_000062 1/11964 1/8202 0/3762
1 c.676+22G>A r.(=) p.(=) g.3313179G>A Copied from the Exome Variant Server PRDM16_000063 1/11936 0/8186 1/3750
1 c.676+29G>A r.(=) p.(=) g.3313186G>A Copied from the Exome Variant Server PRDM16_000064 1/11842 0/8140 1/3702
1 c.676+30G>T r.(=) p.(=) g.3313187G>T Copied from the Exome Variant Server PRDM16_000065 1/11820 1/8130 0/3690
1 c.676+32C>G r.(=) p.(=) g.3313189C>G Copied from the Exome Variant Server PRDM16_000066 4/11810 0/8118 4/3692
1 c.677-42G>A r.(=) p.(=) g.3319313G>A Copied from the Exome Variant Server PRDM16_000067 3/12500 0/8388 3/4112
1 c.677-32C>T r.(=) p.(=) g.3319323C>T Copied from the Exome Variant Server PRDM16_000068 1/12508 1/8390 0/4118
1 c.677-20_677-19insCTCGTT r.(=) p.(=) g.3319335_3319336insCTCGTT Copied from the Exome Variant Server PRDM16_000069 73/11958 2/8034 71/3924
1 c.699C>T r.(=) p.(=) g.3319377C>T Copied from the Exome Variant Server PRDM16_000070 1/12678 0/8462 1/4216
1 c.700G>A r.(?) p.(Glu234Lys) g.3319378G>A Copied from the Exome Variant Server PRDM16_000071 2/12670 0/8466 2/4204
1 c.714C>A r.(=) p.(=) g.3319392C>A Copied from the Exome Variant Server PRDM16_000072 5/12706 5/8480 0/4226
1 c.739C>T r.(?) p.(Arg247Cys) g.3319417C>T Copied from the Exome Variant Server PRDM16_000073 1/12750 1/8496 0/4254
1 c.771G>A r.(=) p.(=) g.3319449G>A Copied from the Exome Variant Server PRDM16_000074 1/12784 0/8510 1/4274
1 c.783C>T r.(=) p.(=) g.3319461C>T Copied from the Exome Variant Server PRDM16_000075 107/12788 91/8512 16/4276
1 c.784G>A r.(?) p.(Glu262Lys) g.3319462G>A Copied from the Exome Variant Server PRDM16_000076 1/12796 1/8516 0/4280
1 c.801G>A r.(=) p.(=) g.3319479G>A Copied from the Exome Variant Server PRDM16_000077 1/12838 1/8528 0/4310
1 c.822C>T r.(=) p.(=) g.3319500C>T Copied from the Exome Variant Server PRDM16_000078 2/12896 2/8548 0/4348
1 c.832G>A r.(?) p.(Gly278Ser) g.3319510G>A Copied from the Exome Variant Server PRDM16_000079 2/12920 2/8554 0/4366
1 c.840C>T r.(=) p.(=) g.3319518C>T Copied from the Exome Variant Server PRDM16_000080 1/12926 0/8556 1/4370
1 c.843C>G r.(?) p.(His281Gln) g.3319521C>G Copied from the Exome Variant Server PRDM16_000081 1/12920 0/8554 1/4366
1 c.867G>A r.(?) p.(Met289Ile) g.3319545G>A Copied from the Exome Variant Server PRDM16_000082 1/12926 1/8546 0/4380
1 c.875A>T r.(?) p.(Asn292Ile) g.3319553A>T Copied from the Exome Variant Server PRDM16_000083 1/12908 1/8536 0/4372
1 c.884+7C>T r.(=) p.(=) g.3319569C>T Copied from the Exome Variant Server PRDM16_000084 1/12894 1/8534 0/4360
1 c.884+13C>G r.(=) p.(=) g.3319575C>G Copied from the Exome Variant Server PRDM16_000085 2/12872 2/8520 0/4352
1 c.884+29C>T r.(=) p.(=) g.3319591C>T Copied from the Exome Variant Server PRDM16_000086 2/12828 0/8496 2/4332
1 c.884+40_884+70del r.(=) p.(=) g.3319602_3319632del Copied from the Exome Variant Server PRDM16_000087 1724/11698 1392/7840 332/3858
1 c.885-32G>A r.(=) p.(=) g.3321271G>A Copied from the Exome Variant Server PRDM16_000088 2/12818 0/8520 2/4298
1 c.885-26C>T r.(=) p.(=) g.3321277C>T Copied from the Exome Variant Server PRDM16_000089 2/12848 0/8532 2/4316
1 c.885-25G>A r.(=) p.(=) g.3321278G>A Copied from the Exome Variant Server PRDM16_000090 2/12866 0/8538 2/4328
1 c.885-22G>A r.(=) p.(=) g.3321281G>A Copied from the Exome Variant Server PRDM16_000091 1/12896 1/8546 0/4350
1 c.885-10C>T r.(=) p.(=) g.3321293C>T Copied from the Exome Variant Server PRDM16_000092 2/12942 2/8566 0/4376
1 c.885-5C>T r.spl? p.? g.3321298C>T Copied from the Exome Variant Server PRDM16_000093 1/12948 0/8574 1/4374
1 c.885-4G>A r.spl? p.? g.3321299G>A Copied from the Exome Variant Server PRDM16_000094 4/12950 2/8574 2/4376
1 c.911C>T r.(?) p.(Thr304Met) g.3321329C>T Copied from the Exome Variant Server PRDM16_000095 1/12978 1/8588 0/4390
1 c.912G>A r.(=) p.(=) g.3321330G>A Copied from the Exome Variant Server PRDM16_000096 1/12980 1/8590 0/4390
1 c.920G>A r.(?) p.(Arg307His) g.3321338G>A Copied from the Exome Variant Server PRDM16_000097 1/12990 1/8594 0/4396
1 c.934G>A r.(?) p.(Asp312Asn) g.3321352G>A Copied from the Exome Variant Server PRDM16_000098 12/12988 0/8594 12/4394
1 c.969C>T r.(=) p.(=) g.3321387C>T Copied from the Exome Variant Server PRDM16_000099 1/12988 0/8590 1/4398
1 c.993C>T r.(=) p.(=) g.3321411C>T Copied from the Exome Variant Server PRDM16_000100 1/12970 0/8582 1/4388
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