Unique variants in gene MC1R

Information The variants shown are described using the NM_002386.3 transcript reference sequence.

127 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.-24C>T r.(=) p.(=) g.89985643C>T Copied from the Exome Variant Server MC1R_000001 2/12088 0/8166 2/3922
1 c.-13C>T r.(=) p.(=) g.89985654C>T Copied from the Exome Variant Server MC1R_000002 3/12086 2/8178 1/3908
1 c.35G>A r.(?) p.(Gly12Asp) g.89985701G>A Copied from the Exome Variant Server MC1R_000003 2/12002 2/8174 0/3828
1 c.40C>T r.(?) p.(Leu14Phe) g.89985706C>T Copied from the Exome Variant Server MC1R_000004 1/11982 1/8172 0/3810
1 c.56C>T r.(?) p.(Thr19Ile) g.89985722C>T Copied from the Exome Variant Server MC1R_000005 1/11960 1/8182 0/3778
1 c.67C>T r.(?) p.(Gln23*) g.89985733C>T Copied from the Exome Variant Server MC1R_000006 11/11972 0/8190 11/3782
1 c.75G>T r.(=) p.(=) g.89985741G>T Copied from the Exome Variant Server MC1R_000007 1/12050 1/8208 0/3842
1 c.84_85insA r.(?) p.(Asn29Lysfs*14) g.89985750_89985751insA Copied from the Exome Variant Server MC1R_000008 34/11596 34/7882 0/3714
1 c.100C>T r.(?) p.(Arg34Trp) g.89985766C>T Copied from the Exome Variant Server MC1R_000009 2/12172 2/8258 0/3914
1 c.101G>A r.(?) p.(Arg34Gln) g.89985767G>A Copied from the Exome Variant Server MC1R_000010 1/12214 1/8276 0/3938
1 c.111G>A r.(=) p.(=) g.89985777G>A Copied from the Exome Variant Server MC1R_000011 1/12324 0/8330 1/3994
1 c.112G>A r.(?) p.(Val38Met) g.89985778G>A Copied from the Exome Variant Server MC1R_000012 7/12340 5/8336 2/4004
1 c.115_116insC r.(?) p.(Ile40Hisfs*3) g.89985781_89985782insC Copied from the Exome Variant Server MC1R_000013 1/11844 0/7986 1/3858
1 c.122C>G r.(?) p.(Ser41Cys) g.89985788C>G Copied from the Exome Variant Server MC1R_000014 1/12384 0/8362 1/4022
1 c.126C>T r.(=) p.(=) g.89985792C>T Copied from the Exome Variant Server MC1R_000015 1/12408 1/8370 0/4038
1 c.133T>C r.(?) p.(Phe45Leu) g.89985799T>C Copied from the Exome Variant Server MC1R_000016 6/12480 6/8388 0/4092
1 c.140G>T r.(?) p.(Ser47Ile) g.89985806G>T Copied from the Exome Variant Server MC1R_000017 2/12518 0/8408 2/4110
1 c.168C>T r.(=) p.(=) g.89985834C>T Copied from the Exome Variant Server MC1R_000018 1/12748 0/8480 1/4268
1 c.169G>A r.(?) p.(Ala57Thr) g.89985835G>A Copied from the Exome Variant Server MC1R_000019 2/12760 2/8484 0/4276
1 c.170C>T r.(?) p.(Ala57Val) g.89985836C>T Copied from the Exome Variant Server MC1R_000020 1/12760 0/8482 1/4278
1 c.178G>T r.(?) p.(Val60Leu) g.89985844G>T Copied from the Exome Variant Server MC1R_000021 1235/12856 1137/8522 98/4334
1 c.189C>T r.(=) p.(=) g.89985855C>T Copied from the Exome Variant Server MC1R_000022 2/12882 2/8530 0/4352
1 c.190G>A r.(?) p.(Ala64Thr) g.89985856G>A Copied from the Exome Variant Server MC1R_000023 1/12888 1/8532 0/4356
1 c.199C>T r.(?) p.(Arg67Trp) g.89985865C>T Copied from the Exome Variant Server MC1R_000024 1/12896 1/8534 0/4362
1 c.200G>A r.(?) p.(Arg67Gln) g.89985866G>A Copied from the Exome Variant Server MC1R_000025 2/12904 2/8538 0/4366
1 c.216C>T r.(=) p.(=) g.89985882C>T Copied from the Exome Variant Server MC1R_000026 1/12938 1/8558 0/4380
1 c.217A>G r.(?) p.(Met73Val) g.89985883A>G Copied from the Exome Variant Server MC1R_000027 2/12946 2/8560 0/4386
1 c.247T>C r.(?) p.(Ser83Pro) g.89985913T>C Copied from the Exome Variant Server MC1R_000028 10/12944 9/8566 1/4378
1 c.252C>A r.(?) p.(Asp84Glu) g.89985918C>A Copied from the Exome Variant Server MC1R_000029 94/12958 86/8576 8/4382
1 c.265G>C r.(?) p.(Gly89Arg) g.89985931G>C Copied from the Exome Variant Server MC1R_000030 1/12944 1/8562 0/4382
1 c.273C>T r.(=) p.(=) g.89985939C>T Copied from the Exome Variant Server MC1R_000031 1/12944 1/8562 0/4382
1 c.274G>A r.(?) p.(Val92Met) g.89985940G>A Copied from the Exome Variant Server MC1R_000032 820/12952 735/8568 85/4384
1 c.284C>T r.(?) p.(Thr95Met) g.89985950C>T Copied from the Exome Variant Server MC1R_000033 8/12956 5/8574 3/4382
1 c.292A>G r.(?) p.(Ile98Val) g.89985958A>G Copied from the Exome Variant Server MC1R_000034 1/12952 0/8572 1/4380
1 c.293_295del r.(?) p.(Leu101del) g.89985959_89985961del Copied from the Exome Variant Server MC1R_000035 21/12442 10/8208 11/4234
1 c.309C>T r.(=) p.(=) g.89985975C>T Copied from the Exome Variant Server MC1R_000036 10/12956 1/8574 9/4382
1 c.318G>A r.(=) p.(=) g.89985984G>A Copied from the Exome Variant Server MC1R_000037 181/12966 2/8584 179/4382
1 c.332C>T r.(?) p.(Ala111Val) g.89985998C>T Copied from the Exome Variant Server MC1R_000038 2/12974 2/8590 0/4384
1 c.333G>A r.(=) p.(=) g.89985999G>A Copied from the Exome Variant Server MC1R_000039 4/12976 4/8592 0/4384
1 c.343C>T r.(?) p.(Gln115*) g.89986009C>T Copied from the Exome Variant Server MC1R_000040 1/12988 0/8596 1/4392
1 c.350A>T r.(?) p.(Asp117Val) g.89986016A>T Copied from the Exome Variant Server MC1R_000041 1/12990 1/8598 0/4392
1 c.359T>C r.(?) p.(Ile120Thr) g.89986025T>C Copied from the Exome Variant Server MC1R_000042 2/12990 2/8598 0/4392
1 c.363C>G r.(?) p.(Asp121Glu) g.89986029C>G Copied from the Exome Variant Server MC1R_000043 1/12992 1/8600 0/4392
1 c.364G>A r.(?) p.(Val122Met) g.89986030G>A Copied from the Exome Variant Server MC1R_000044 2/12992 1/8600 1/4392
1 c.383T>C r.(?) p.(Met128Thr) g.89986049T>C Copied from the Exome Variant Server MC1R_000045 1/12990 1/8598 0/4392
1 c.389C>T r.(?) p.(Ser130Phe) g.89986055C>T Copied from the Exome Variant Server MC1R_000046 1/12990 1/8598 0/4392
1 c.392G>A r.(?) p.(Ser131Asn) g.89986058G>A Copied from the Exome Variant Server MC1R_000047 1/12990 1/8598 0/4392
1 c.399C>T r.(=) p.(=) g.89986065C>T Copied from the Exome Variant Server MC1R_000048 6/12994 5/8600 1/4394
1 c.414C>T r.(=) p.(=) g.89986080C>T Copied from the Exome Variant Server MC1R_000049 2/12996 0/8600 2/4396
1 c.417C>G r.(=) p.(=) g.89986083C>G Copied from the Exome Variant Server MC1R_000050 1/12996 1/8600 0/4396
1 c.425G>A r.(?) p.(Arg142His) g.89986091G>A Copied from the Exome Variant Server MC1R_000051 67/12996 64/8600 3/4396
1 c.444C>T r.(=) p.(=) g.89986110C>T Copied from the Exome Variant Server MC1R_000052 2/12996 0/8600 2/4396
1 c.445G>A r.(?) p.(Ala149Thr) g.89986111G>A Copied from the Exome Variant Server MC1R_000053 2/12996 1/8600 1/4396
1 c.451C>T r.(?) p.(Arg151Cys) g.89986117C>T Copied from the Exome Variant Server MC1R_000054 730/12996 655/8600 75/4396
1 c.453C>G r.(=) p.(=) g.89986119C>G Copied from the Exome Variant Server MC1R_000055 7/12996 6/8600 1/4396
1 c.456C>A r.(?) p.(Tyr152*) g.89986122C>A Copied from the Exome Variant Server MC1R_000056 3/12996 3/8600 0/4396
1 c.464T>C r.(?) p.(Ile155Thr) g.89986130T>C Copied from the Exome Variant Server MC1R_000057 103/12992 90/8598 13/4394
1 c.465C>T r.(=) p.(=) g.89986131C>T Copied from the Exome Variant Server MC1R_000058 1/12994 0/8600 1/4394
1 c.466G>C r.(?) p.(Val156Leu) g.89986132G>C Copied from the Exome Variant Server MC1R_000059 82/12994 0/8600 82/4394
1 c.467T>C r.(?) p.(Val156Ala) g.89986133T>C Copied from the Exome Variant Server MC1R_000060 2/12994 2/8600 0/4394
1 c.478C>T r.(?) p.(Arg160Trp) g.89986144C>T Copied from the Exome Variant Server MC1R_000061 722/12980 663/8594 59/4386
1 c.488G>A r.(?) p.(Arg163Gln) g.89986154G>A Copied from the Exome Variant Server MC1R_000062 481/12976 414/8588 67/4388
1 c.492C>T r.(=) p.(=) g.89986158C>T Copied from the Exome Variant Server MC1R_000063 1/12972 1/8588 0/4384
1 c.495_496insG r.(?) p.(Ala166Glyfs*73) g.89986161_89986162insG Copied from the Exome Variant Server MC1R_000064 1/12468 1/8220 0/4248
1 c.498G>A r.(=) p.(=) g.89986164G>A Copied from the Exome Variant Server MC1R_000065 2/12970 2/8590 0/4380
1 c.504C>T r.(=) p.(=) g.89986170C>T Copied from the Exome Variant Server MC1R_000066 9/12972 0/8588 9/4384
1 c.512C>G r.(?) p.(Ala171Gly) g.89986178C>G Copied from the Exome Variant Server MC1R_000067 2/12972 0/8586 2/4386
1 c.515G>T r.(?) p.(Ser172Ile) g.89986181G>T Copied from the Exome Variant Server MC1R_000068 1/12970 1/8586 0/4384
1 c.531G>A r.(=) p.(=) g.89986197G>A Copied from the Exome Variant Server MC1R_000069 26/12954 0/8578 26/4376
1 c.536_537insC r.(?) p.(Ile180Hisfs*59) g.89986202_89986203insC Copied from the Exome Variant Server MC1R_000070 10/12454 10/8222 0/4232
1 c.546C>T r.(=) p.(=) g.89986212C>T Copied from the Exome Variant Server MC1R_000071 6/12940 3/8572 3/4368
1 c.547T>G r.(?) p.(Tyr183Asp) g.89986213T>G Copied from the Exome Variant Server MC1R_000072 1/12938 1/8570 0/4368
1 c.555C>T r.(=) p.(=) g.89986221C>T Copied from the Exome Variant Server MC1R_000073 4/12924 3/8560 1/4364
1 c.561C>T r.(=) p.(=) g.89986227C>T Copied from the Exome Variant Server MC1R_000074 1/12906 0/8540 1/4366
1 c.582C>T r.(=) p.(=) g.89986248C>T Copied from the Exome Variant Server MC1R_000075 2/12842 0/8504 2/4338
1 c.583T>G r.(?) p.(Phe195Val) g.89986249T>G Copied from the Exome Variant Server MC1R_000076 1/12838 1/8504 0/4334
1 c.586T>C r.(?) p.(Phe196Leu) g.89986252T>C Copied from the Exome Variant Server MC1R_000077 138/12834 4/8504 134/4330
1 c.607A>G r.(?) p.(Met203Val) g.89986273A>G Copied from the Exome Variant Server MC1R_000078 1/12786 0/8468 1/4318
1 c.617T>C r.(?) p.(Leu206Pro) g.89986283T>C Copied from the Exome Variant Server MC1R_000079 1/12760 0/8466 1/4294
1 c.631C>G r.(?) p.(Leu211Val) g.89986297C>G Copied from the Exome Variant Server MC1R_000080 2/12658 0/8436 2/4222
1 c.633G>A r.(=) p.(=) g.89986299G>A Copied from the Exome Variant Server MC1R_000081 8/12644 0/8432 8/4212
1 c.637C>T r.(?) p.(Arg213Trp) g.89986303C>T Copied from the Exome Variant Server MC1R_000082 6/12598 5/8416 1/4182
1 c.652G>A r.(?) p.(Ala218Thr) g.89986318G>A Copied from the Exome Variant Server MC1R_000083 5/12516 3/8380 2/4136
1 c.662T>C r.(?) p.(Ile221Thr) g.89986328T>C Copied from the Exome Variant Server MC1R_000084 1/12518 1/8372 0/4146
1 c.663C>T r.(=) p.(=) g.89986329C>T Copied from the Exome Variant Server MC1R_000085 1/12518 0/8376 1/4142
1 c.664G>A r.(?) p.(Ala222Thr) g.89986330G>A Copied from the Exome Variant Server MC1R_000086 1/12484 1/8362 0/4122
1 c.667C>G r.(?) p.(Arg223Gly) g.89986333C>G Copied from the Exome Variant Server MC1R_000087 2/12482 2/8366 0/4116
1 c.686G>A r.(?) p.(Arg229His) g.89986352G>A Copied from the Exome Variant Server MC1R_000088 1/12460 1/8354 0/4106
1 c.689C>T r.(?) p.(Pro230Leu) g.89986355C>T Copied from the Exome Variant Server MC1R_000089 1/12452 0/8350 1/4102
1 c.699G>A r.(=) p.(=) g.89986365G>A Copied from the Exome Variant Server MC1R_000090 22/12494 18/8368 4/4126
1 c.717C>T r.(=) p.(=) g.89986383C>T Copied from the Exome Variant Server MC1R_000091 2/12534 2/8378 0/4156
1 c.729C>T r.(=) p.(=) g.89986395C>T Copied from the Exome Variant Server MC1R_000092 2/12590 2/8410 0/4180
1 c.744C>G r.(=) p.(=) g.89986410C>G Copied from the Exome Variant Server MC1R_000093 1/12586 1/8402 0/4184
1 c.763G>C r.(?) p.(Gly255Arg) g.89986429G>C Copied from the Exome Variant Server MC1R_000094 2/12602 0/8428 2/4174
1 c.766C>T r.(?) p.(Pro256Ser) g.89986432C>T Copied from the Exome Variant Server MC1R_000095 3/12604 3/8434 0/4170
1 c.770T>A r.(?) p.(Phe257Tyr) g.89986436T>A Copied from the Exome Variant Server MC1R_000096 1/12590 0/8428 1/4162
1 c.787C>T r.(?) p.(Leu263Phe) g.89986453C>T Copied from the Exome Variant Server MC1R_000097 1/12666 0/8456 1/4210
1 c.792C>T r.(=) p.(=) g.89986458C>T Copied from the Exome Variant Server MC1R_000098 12/12676 9/8462 3/4214
1 c.795C>G r.(=) p.(=) g.89986461C>G Copied from the Exome Variant Server MC1R_000099 5/12700 0/8474 5/4226
1 c.806A>G r.(?) p.(Glu269Gly) g.89986472A>G Copied from the Exome Variant Server MC1R_000100 1/12698 1/8472 0/4226
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