Unique variants in gene MED12

Information The variants shown are described using the NM_005120.2 transcript reference sequence.

205 entries on 3 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.-28G>T r.(=) p.(=) g.70338577G>T Copied from the Exome Variant Server MED12_000001 1/9402 1/6289 0/3113
1 c.27C>T r.(=) p.(=) g.70338631C>T Copied from the Exome Variant Server MED12_000002 1/9464 0/6356 1/3108
1 c.82G>A r.(?) p.(Asp28Asn) g.70338686G>A Copied from the Exome Variant Server MED12_000003 1/9371 0/6330 1/3041
1 c.201C>G r.(=) p.(=) g.70339324C>G Copied from the Exome Variant Server MED12_000004 1/9696 1/6446 0/3250
1 c.204+10_204+11del r.(=) p.(=) g.70339337_70339338del Copied from the Exome Variant Server MED12_000005 69/9311 1/6191 68/3120
1 c.204+25G>T r.(=) p.(=) g.70339352G>T Copied from the Exome Variant Server MED12_000006 2/9629 0/6415 2/3214
1 c.204+31G>A r.(=) p.(=) g.70339358G>A Copied from the Exome Variant Server MED12_000007 2/9628 0/6414 2/3214
1 c.205-38C>T r.(=) p.(=) g.70339498C>T Copied from the Exome Variant Server MED12_000008 2267/9799 2060/6462 207/3337
1 c.381G>A r.(=) p.(=) g.70339712G>A Copied from the Exome Variant Server MED12_000009 5/9911 1/6503 4/3408
1 c.384A>G r.(=) p.(=) g.70339715A>G Copied from the Exome Variant Server MED12_000010 31/9906 0/6498 31/3408
1 c.396+35G>C r.(=) p.(=) g.70339762G>C Copied from the Exome Variant Server MED12_000013 2/9872 2/6493 0/3379
1 c.397-43C>T r.(=) p.(=) g.70339821C>T Copied from the Exome Variant Server MED12_000015 1/9736 0/6452 1/3284
1 c.397-39G>A r.(=) p.(=) g.70339825G>A Copied from the Exome Variant Server MED12_000017 26/9728 25/6446 1/3282
1 c.397-27_397-26del r.(=) p.(=) g.70339837_70339838del Copied from the Exome Variant Server MED12_000019 2/9369 1/6199 1/3170
1 c.438A>G r.(=) p.(=) g.70339905A>G Copied from the Exome Variant Server MED12_000021 14/9879 0/6500 14/3379
1 c.554-21C>A r.(=) p.(=) g.70340800C>A Copied from the Exome Variant Server MED12_000023 196/9759 0/6448 196/3311
1 c.568A>G r.(?) p.(Ile190Val) g.70340835A>G Copied from the Exome Variant Server MED12_000025 1/9792 1/6445 0/3347
1 c.653C>T r.(?) p.(Thr218Met) g.70340920C>T Copied from the Exome Variant Server MED12_000027 5/9928 1/6494 4/3434
1 c.708C>T r.(=) p.(=) g.70340975C>T Copied from the Exome Variant Server MED12_000029 2/10090 0/6548 2/3542
1 c.735+15A>G r.(=) p.(=) g.70341017A>G Copied from the Exome Variant Server MED12_000011 1/10199 1/6583 0/3616
1 c.735+19T>C r.(=) p.(=) g.70341021T>C Copied from the Exome Variant Server MED12_000012 1/10196 1/6586 0/3610
1 c.736-14C>G r.(=) p.(=) g.70341163C>G Copied from the Exome Variant Server MED12_000014 2/9705 2/6437 0/3268
1 c.736-8A>C r.(=) p.(=) g.70341169A>C Copied from the Exome Variant Server MED12_000016 2299/9710 2065/6442 234/3268
1 c.736-4A>G r.spl? p.? g.70341173A>G Copied from the Exome Variant Server MED12_000018 1/9714 1/6446 0/3268
1 c.847-13C>T r.(=) p.(=) g.70341399C>T Copied from the Exome Variant Server MED12_000020 2/9851 0/6471 2/3380
1 c.934G>C r.(?) p.(Val312Leu) g.70341499G>C Copied from the Exome Variant Server MED12_000022 2/10350 2/6637 0/3713
1 c.966T>C r.(=) p.(=) g.70341531T>C Copied from the Exome Variant Server MED12_000024 2/10385 2/6642 0/3743
1 c.1101+18C>T r.(=) p.(=) g.70341684C>T Copied from the Exome Variant Server MED12_000026 3/9703 3/6442 0/3261
1 c.1101+29T>C r.(=) p.(=) g.70341695T>C Copied from the Exome Variant Server MED12_000028 2/9718 2/6435 0/3283
1 c.1102-21T>C r.(=) p.(=) g.70342029T>C Copied from the Exome Variant Server MED12_000030 334/9913 1/6504 333/3409
1 c.1167G>A r.(=) p.(=) g.70342115G>A Copied from the Exome Variant Server MED12_000031 1/10058 1/6537 0/3521
1 c.1203G>A r.(=) p.(=) g.70342151G>A Copied from the Exome Variant Server MED12_000032 4/10060 1/6540 3/3520
1 c.1248+15T>C r.(=) p.(=) g.70342211T>C Copied from the Exome Variant Server MED12_000033 31/9888 24/6491 7/3397
1 c.1248+44G>A r.(=) p.(=) g.70342240G>A Copied from the Exome Variant Server MED12_000034 1/9731 0/6452 1/3279
1 c.1264C>T r.(?) p.(Arg422Trp) g.70342373C>T Copied from the Exome Variant Server MED12_000035 1/9780 1/6448 0/3332
1 c.1323C>T r.(=) p.(=) g.70342432C>T Copied from the Exome Variant Server MED12_000036 1/9839 0/6481 1/3358
1 c.1344T>G r.(=) p.(=) g.70342453T>G Copied from the Exome Variant Server MED12_000037 2/9814 2/6472 0/3342
1 c.1349-41G>A r.(=) p.(=) g.70342547G>A Copied from the Exome Variant Server MED12_000038 2/9679 1/6431 1/3248
1 c.1349-24C>T r.(=) p.(=) g.70342564C>T Copied from the Exome Variant Server MED12_000039 1/9699 1/6445 0/3254
1 c.1386G>T r.(=) p.(=) g.70342625G>T Copied from the Exome Variant Server MED12_000040 18/9823 0/6479 18/3344
1 c.1438C>G r.(?) p.(Leu480Val) g.70342677C>G Copied from the Exome Variant Server MED12_000041 1/9857 1/6503 0/3354
1 c.1485+27_1485+28insA r.(=) p.(=) g.70342751_70342752insA Copied from the Exome Variant Server MED12_000042 3/9452 3/6236 0/3216
1 c.1485+43A>G r.(=) p.(=) g.70342767A>G Copied from the Exome Variant Server MED12_000043 1/9792 0/6496 1/3296
1 c.1486-23C>T r.(=) p.(=) g.70342922C>T Copied from the Exome Variant Server MED12_000044 1/9998 0/6536 1/3462
1 c.1504G>A r.(?) p.(Ala502Thr) g.70342963G>A Copied from the Exome Variant Server MED12_000045 1/10217 0/6593 1/3624
1 c.1617+24C>T r.(=) p.(=) g.70343100C>T Copied from the Exome Variant Server MED12_000046 32/10066 0/6546 32/3520
1 c.1618-25T>C r.(=) p.(=) g.70343419T>C Copied from the Exome Variant Server MED12_000047 1/10026 1/6535 0/3491
1 c.1639G>A r.(?) p.(Ala547Thr) g.70343465G>A Copied from the Exome Variant Server MED12_000048 2/10001 2/6525 0/3476
1 c.1684A>G r.(?) p.(Ser562Gly) g.70343510A>G Copied from the Exome Variant Server MED12_000049 2/9906 0/6494 2/3412
1 c.1744+5G>A r.spl? p.? g.70343575G>A Copied from the Exome Variant Server MED12_000050 1/9773 1/6444 0/3329
1 c.1744+51A>G r.(=) p.(=) g.70343621A>G Copied from the Exome Variant Server MED12_000051 1802/9558 1643/6335 159/3223
1 c.1745-47C>T r.(=) p.(=) g.70343962C>T Copied from the Exome Variant Server MED12_000052 1/9675 0/6410 1/3265
1 c.1745-22T>A r.(=) p.(=) g.70343987T>A Copied from the Exome Variant Server MED12_000053 1/9675 1/6413 0/3262
1 c.1745-13T>G r.(=) p.(=) g.70343996T>G Copied from the Exome Variant Server MED12_000054 1/9680 1/6420 0/3260
1 c.1821T>A r.(?) p.(Asp607Glu) g.70344085T>A Copied from the Exome Variant Server MED12_000055 1/9825 1/6479 0/3346
1 c.1869C>T r.(=) p.(=) g.70344133C>T Copied from the Exome Variant Server MED12_000056 1/9855 1/6487 0/3368
1 c.1902C>T r.(=) p.(=) g.70344166C>T Copied from the Exome Variant Server MED12_000057 1/9875 0/6489 1/3386
1 c.1935G>A r.(=) p.(=) g.70344199G>A Copied from the Exome Variant Server MED12_000058 1/10057 0/6557 1/3500
1 c.1975-22C>T r.(=) p.(=) g.70344592C>T Copied from the Exome Variant Server MED12_000059 1/9676 0/6436 1/3240
1 c.2055+19G>A r.(=) p.(=) g.70344713G>A Copied from the Exome Variant Server MED12_000060 6/9838 0/6484 6/3354
1 c.2136C>T r.(=) p.(=) g.70344906C>T Copied from the Exome Variant Server MED12_000061 1/9789 1/6469 0/3320
1 c.2220C>T r.(=) p.(=) g.70344990C>T Copied from the Exome Variant Server MED12_000062 2/9786 2/6454 0/3332
1 c.2226+39C>T r.(=) p.(=) g.70345035C>T Copied from the Exome Variant Server MED12_000063 1/9848 0/6474 1/3374
1 c.2227-34G>A r.(=) p.(=) g.70345167G>A Copied from the Exome Variant Server MED12_000064 1/10522 0/6697 1/3825
1 c.2259G>A r.(=) p.(=) g.70345233G>A Copied from the Exome Variant Server MED12_000065 225/10490 0/6687 225/3803
1 c.2308G>A r.(?) p.(Ala770Thr) g.70345282G>A Copied from the Exome Variant Server MED12_000066 1/10334 1/6633 0/3701
1 c.2372-20C>A r.(=) p.(=) g.70345493C>A Copied from the Exome Variant Server MED12_000067 1/9699 1/6451 0/3248
1 c.2372-3C>T r.spl? p.? g.70345510C>T Copied from the Exome Variant Server MED12_000068 1/9779 0/6481 1/3298
1 c.2422+28C>A r.(=) p.(=) g.70345591C>A Copied from the Exome Variant Server MED12_000069 2/10007 0/6537 2/3470
1 c.2422+30C>T r.(=) p.(=) g.70345593C>T Copied from the Exome Variant Server MED12_000070 1311/10001 748/6531 563/3470
1 c.2422+32C>A r.(=) p.(=) g.70345595C>A Copied from the Exome Variant Server MED12_000071 1/9995 1/6529 0/3466
1 c.2423-51C>G r.(=) p.(=) g.70345835C>G Copied from the Exome Variant Server MED12_000072 8/9596 6/6392 2/3204
1 c.2423-38T>C r.(=) p.(=) g.70345848T>C Copied from the Exome Variant Server MED12_000073 4/9641 0/6411 4/3230
1 c.2423-32T>G r.(=) p.(=) g.70345854T>G Copied from the Exome Variant Server MED12_000074 1/9665 1/6419 0/3246
1 c.2542-36T>G r.(=) p.(=) g.70346155T>G Copied from the Exome Variant Server MED12_000075 1/10001 0/6529 1/3472
1 c.2571G>A r.(=) p.(=) g.70346220G>A Copied from the Exome Variant Server MED12_000076 1/10229 1/6598 0/3631
1 c.2613G>A r.(=) p.(=) g.70346262G>A Copied from the Exome Variant Server MED12_000077 1/10311 0/6612 1/3699
1 c.2685+52G>A r.(=) p.(=) g.70346386G>A Copied from the Exome Variant Server MED12_000078 1/5412 1/3398 0/2014
1 c.2686-15C>T r.(=) p.(=) g.70346804C>T Copied from the Exome Variant Server MED12_000079 1/9939 1/6514 0/3425
1 c.2727C>T r.(=) p.(=) g.70346860C>T Copied from the Exome Variant Server MED12_000080 1/10252 1/6587 0/3665
1 c.2778C>T r.(=) p.(=) g.70346911C>T Copied from the Exome Variant Server MED12_000081 1/10284 1/6617 0/3667
1 c.2849+17A>G r.(=) p.(=) g.70346999A>G Copied from the Exome Variant Server MED12_000082 1/10003 1/6539 0/3464
1 c.2850-27C>T r.(=) p.(=) g.70347159C>T Copied from the Exome Variant Server MED12_000083 5/10024 0/6524 5/3500
1 c.2886C>T r.(=) p.(=) g.70347222C>T Copied from the Exome Variant Server MED12_000084 69/10067 0/6532 69/3535
1 c.2904G>A r.(=) p.(=) g.70347240G>A Copied from the Exome Variant Server MED12_000085 1/10050 0/6527 1/3523
1 c.2981+12_2981+13del r.(=) p.(=) g.70347329_70347330del Copied from the Exome Variant Server MED12_000086 1/9403 0/6201 1/3202
1 c.2981+13G>A r.(=) p.(=) g.70347330G>A Copied from the Exome Variant Server MED12_000087 6/9772 6/6438 0/3334
1 c.2981+43C>T r.(=) p.(=) g.70347360C>T Copied from the Exome Variant Server MED12_000088 1/9817 1/6453 0/3364
1 c.2982-8C>G r.(=) p.(=) g.70347735C>G Copied from the Exome Variant Server MED12_000089 1/9986 0/6524 1/3462
1 c.3009C>A r.(=) p.(=) g.70347770C>A Copied from the Exome Variant Server MED12_000090 1/10027 1/6539 0/3488
1 c.3110C>T r.(?) p.(Thr1037Met) g.70347871C>T Copied from the Exome Variant Server MED12_000091 1/9972 0/6544 1/3428
1 c.3204C>T r.(=) p.(=) g.70347965C>T Copied from the Exome Variant Server MED12_000092 15/9936 13/6511 2/3425
1 c.3209+36C>T r.(=) p.(=) g.70348006C>T Copied from the Exome Variant Server MED12_000093 2/9822 2/6478 0/3344
1 c.3210-38G>T r.(=) p.(=) g.70348108G>T Copied from the Exome Variant Server MED12_000094 1/9952 1/6520 0/3432
1 c.3210-29T>C r.(=) p.(=) g.70348117T>C Copied from the Exome Variant Server MED12_000095 1/9988 0/6534 1/3454
1 c.3222C>T r.(=) p.(=) g.70348158C>T Copied from the Exome Variant Server MED12_000096 2/10267 0/6623 2/3644
1 c.3354+27G>C r.(=) p.(=) g.70348317G>C Copied from the Exome Variant Server MED12_000097 1531/10033 747/6531 784/3502
1 c.3355-27A>G r.(=) p.(=) g.70348421A>G Copied from the Exome Variant Server MED12_000098 2/9972 0/6504 2/3468
1 c.3355-25G>C r.(=) p.(=) g.70348423G>C Copied from the Exome Variant Server MED12_000099 1/9989 1/6511 0/3478
1 c.3355-14_3355-13insT r.(=) p.(=) g.70348434_70348435insT Copied from the Exome Variant Server MED12_000100 2/9593 2/6263 0/3330
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