All transcript variants in gene HCFC1

Information The variants shown are described using the NM_005334.2 transcript reference sequence.

222 entries on 3 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.99C>G r.(=) p.(=) g.153236193G>C Copied from the Exome Variant Server HCFC1_000010 1/9776 1/6443 0/3333
?/? c.189C>T r.(=) p.(=) g.153236103G>A Copied from the Exome Variant Server HCFC1_000009 1/10317 1/6600 0/3717
?/? c.193+27G>C r.(=) p.(=) g.153236072C>G Copied from the Exome Variant Server HCFC1_000008 1/10346 1/6623 0/3723
?/? c.193+37C>T r.(=) p.(=) g.153236062G>A Copied from the Exome Variant Server HCFC1_000007 1/10342 1/6616 0/3726
?/? c.343-48G>A r.(=) p.(=) g.153229783C>T Copied from the Exome Variant Server HCFC1_000006 79/9848 0/6465 79/3383
?/? c.343-44G>A r.(=) p.(=) g.153229779C>T Copied from the Exome Variant Server HCFC1_000005 3/9845 3/6462 0/3383
?/? c.343-37C>T r.(=) p.(=) g.153229772G>A Copied from the Exome Variant Server HCFC1_000004 173/9826 1/6451 172/3375
?/? c.380C>T r.(?) p.(Thr127Met) g.153229698G>A Copied from the Exome Variant Server HCFC1_000003 1/9725 1/6429 0/3296
?/? c.429C>T r.(=) p.(=) g.153229649G>A Copied from the Exome Variant Server HCFC1_000002 1/9799 0/6453 1/3346
?/? c.503+14C>G r.(=) p.(=) g.153229561G>C Copied from the Exome Variant Server HCFC1_000109 14/9778 14/6462 0/3316
?/? c.503+42T>C r.(=) p.(=) g.153229533A>G Copied from the Exome Variant Server HCFC1_000108 8/9672 0/6437 8/3235
?/? c.504-33C>T r.(=) p.(=) g.153228917G>A Copied from the Exome Variant Server HCFC1_000107 4/9996 4/6522 0/3474
?/? c.504-32G>A r.(=) p.(=) g.153228916C>T Copied from the Exome Variant Server HCFC1_000106 1/9996 0/6522 1/3474
?/? c.579C>T r.(=) p.(=) g.153228809G>A Copied from the Exome Variant Server HCFC1_000105 1/9835 1/6476 0/3359
?/? c.585C>G r.(=) p.(=) g.153228803G>C Copied from the Exome Variant Server HCFC1_000104 1/9870 0/6481 1/3389
?/? c.615C>T r.(=) p.(=) g.153228773G>A Copied from the Exome Variant Server HCFC1_000103 1/9893 1/6510 0/3383
?/? c.627C>T r.(=) p.(=) g.153228761G>A Copied from the Exome Variant Server HCFC1_000102 2/9941 2/6514 0/3427
?/? c.713-18C>T r.(=) p.(=) g.153227775G>A Copied from the Exome Variant Server HCFC1_000101 1/10240 0/6613 1/3627
?/? c.713-13C>T r.(=) p.(=) g.153227770G>A Copied from the Exome Variant Server HCFC1_000100 1529/10236 1154/6613 375/3623
?/? c.713-12G>A r.(=) p.(=) g.153227769C>T Copied from the Exome Variant Server HCFC1_000099 1/10243 0/6612 1/3631
?/? c.717C>G r.(=) p.(=) g.153227753G>C Copied from the Exome Variant Server HCFC1_000149 6/10283 5/6610 1/3673
?/? c.797+28T>C r.(=) p.(=) g.153227645A>G Copied from the Exome Variant Server HCFC1_000048 1/9934 0/6501 1/3433
?/? c.797+42G>A r.(=) p.(=) g.153227631C>T Copied from the Exome Variant Server HCFC1_000047 3/9879 1/6473 2/3406
?/? c.905-35C>T r.(=) p.(=) g.153225900G>A Copied from the Exome Variant Server HCFC1_000046 1/9993 1/6499 0/3494
?/? c.1084+8C>T r.(=) p.(=) g.153225678G>A Copied from the Exome Variant Server HCFC1_000045 1/9912 1/6456 0/3456
?/? c.1084+17C>T r.(=) p.(=) g.153225669G>A Copied from the Exome Variant Server HCFC1_000044 2/9877 1/6444 1/3433
?/? c.1085-31G>A r.(=) p.(=) g.153225643C>T Copied from the Exome Variant Server HCFC1_000043 1/9813 1/6440 0/3373
?/? c.1085-22C>G r.(=) p.(=) g.153225634G>C Copied from the Exome Variant Server HCFC1_000042 1467/9823 1108/6445 359/3378
?/? c.1085-12G>A r.(=) p.(=) g.153225624C>T Copied from the Exome Variant Server HCFC1_000041 552/9839 24/6453 528/3386
?/? c.1215G>A r.(=) p.(=) g.153225482C>T Copied from the Exome Variant Server HCFC1_000040 1/10086 1/6536 0/3550
?/? c.1407C>T r.(=) p.(=) g.153225290G>A Copied from the Exome Variant Server HCFC1_000039 5/10150 5/6563 0/3587
?/? c.1435A>G r.(?) p.(Arg479Gly) g.153225262T>C Copied from the Exome Variant Server HCFC1_000038 1/10050 1/6547 0/3503
?/? c.1444+22G>A r.(=) p.(=) g.153225231C>T Copied from the Exome Variant Server HCFC1_000037 1/9984 1/6521 0/3463
?/? c.1445-41G>A r.(=) p.(=) g.153224983C>T Copied from the Exome Variant Server HCFC1_000036 189/10354 1/6619 188/3735
?/? c.1445-23C>T r.(=) p.(=) g.153224965G>A Copied from the Exome Variant Server HCFC1_000035 1/10323 0/6610 1/3713
?/? c.1445-14C>T r.(=) p.(=) g.153224956G>A Copied from the Exome Variant Server HCFC1_000034 56/10277 0/6597 56/3680
?/? c.1487C>T r.(?) p.(Thr496Ile) g.153224900G>A Copied from the Exome Variant Server HCFC1_000033 1/10274 0/6594 1/3680
?/? c.1560C>T r.(=) p.(=) g.153224827G>A Copied from the Exome Variant Server HCFC1_000032 1/10282 1/6601 0/3681
?/? c.1605+16T>G r.(=) p.(=) g.153224766A>C Copied from the Exome Variant Server HCFC1_000031 1/10109 0/6537 1/3572
?/? c.1605+20G>T r.(=) p.(=) g.153224762C>A Copied from the Exome Variant Server HCFC1_000030 322/10087 2/6537 320/3550
?/? c.1605+32T>G r.(=) p.(=) g.153224750A>C Copied from the Exome Variant Server HCFC1_000029 1/10070 1/6518 0/3552
?/? c.1605+36G>T r.(=) p.(=) g.153224746C>A Copied from the Exome Variant Server HCFC1_000028 1/10092 1/6520 0/3572
?/? c.1606-38A>G r.(=) p.(=) g.153224255T>C Copied from the Exome Variant Server HCFC1_000027 2/10278 2/6585 0/3693
?/? c.1653T>C r.(=) p.(=) g.153224170A>G Copied from the Exome Variant Server HCFC1_000026 1/10132 1/6550 0/3582
?/? c.1698G>A r.(=) p.(=) g.153224125C>T Copied from the Exome Variant Server HCFC1_000025 1/10058 1/6518 0/3540
?/? c.1716G>A r.(=) p.(=) g.153224107C>T Copied from the Exome Variant Server HCFC1_000024 1/10091 1/6527 0/3564
?/? c.1803+13C>T r.(=) p.(=) g.153224007G>A Copied from the Exome Variant Server HCFC1_000148 1/10145 1/6559 0/3586
?/? c.1803+13del r.(=) p.(=) g.153224007del Copied from the Exome Variant Server HCFC1_000147 15/9754 12/6306 3/3448
?/? c.1803+41A>G r.(=) p.(=) g.153223979T>C Copied from the Exome Variant Server HCFC1_000146 3/10237 0/6603 3/3634
?/? c.1803+50C>T r.(=) p.(=) g.153223970G>A Copied from the Exome Variant Server HCFC1_000145 1/10245 1/6597 0/3648
?/? c.1803+51C>T r.(=) p.(=) g.153223969G>A Copied from the Exome Variant Server HCFC1_000144 1/10237 0/6595 1/3642
?/? c.1812C>T r.(=) p.(=) g.153223692G>A Copied from the Exome Variant Server HCFC1_000143 2/10460 0/6670 2/3790
?/? c.1980C>T r.(=) p.(=) g.153223524G>A Copied from the Exome Variant Server HCFC1_000142 1/10269 1/6585 0/3684
?/? c.1986C>T r.(=) p.(=) g.153223518G>A Copied from the Exome Variant Server HCFC1_000141 2/10236 0/6580 2/3656
?/? c.1990G>A r.(?) p.(Val664Met) g.153223514C>T Copied from the Exome Variant Server HCFC1_000140 1/10200 1/6568 0/3632
?/? c.2013A>G r.(=) p.(=) g.153223491T>C Copied from the Exome Variant Server HCFC1_000139 1/10158 1/6568 0/3590
?/? c.2028+27G>A r.(=) p.(=) g.153223449C>T Copied from the Exome Variant Server HCFC1_000138 1/10042 0/6551 1/3491
?/? c.2028+50C>T r.(=) p.(=) g.153223426G>A Copied from the Exome Variant Server HCFC1_000137 5/10000 0/6526 5/3474
?/? c.2029-49C>T r.(=) p.(=) g.153223386G>A Copied from the Exome Variant Server HCFC1_000136 776/9959 26/6505 750/3454
?/? c.2029-12del r.(=) p.(=) g.153223349del Copied from the Exome Variant Server HCFC1_000135 3/9522 3/6242 0/3280
?/? c.2029-9C>G r.(=) p.(=) g.153223346G>C Copied from the Exome Variant Server HCFC1_000222 2/9884 0/6490 2/3394
?/? c.2064G>A r.(=) p.(=) g.153223302C>T Copied from the Exome Variant Server HCFC1_000221 1/9894 1/6494 0/3400
?/? c.2109G>A r.(=) p.(=) g.153223257C>T Copied from the Exome Variant Server HCFC1_000220 59/9940 55/6504 4/3436
?/? c.2134-48C>T r.(=) p.(=) g.153223032G>A Copied from the Exome Variant Server HCFC1_000134 26/10073 25/6535 1/3538
?/? c.2134-20C>A r.(=) p.(=) g.153223004G>T Copied from the Exome Variant Server HCFC1_000133 2/10028 2/6513 0/3515
?/? c.2283C>G r.(=) p.(=) g.153222835G>C Copied from the Exome Variant Server HCFC1_000132 1196/10325 947/6595 249/3730
?/? c.2313C>T r.(=) p.(=) g.153222805G>A Copied from the Exome Variant Server HCFC1_000131 4/10232 0/6570 4/3662
?/? c.2353+9C>T r.(=) p.(=) g.153222756G>A Copied from the Exome Variant Server HCFC1_000130 1/9911 0/6485 1/3426
?/? c.2353+20T>C r.(=) p.(=) g.153222745A>G Copied from the Exome Variant Server HCFC1_000129 1/9875 1/6475 0/3400
?/? c.2353+22T>C r.(=) p.(=) g.153222743A>G Copied from the Exome Variant Server HCFC1_000128 31/9875 31/6477 0/3398
?/? c.2354-42C>T r.(=) p.(=) g.153222553G>A Copied from the Exome Variant Server HCFC1_000098 1/9997 1/6522 0/3475
?/? c.2382C>A r.(=) p.(=) g.153222483G>T Copied from the Exome Variant Server HCFC1_000097 345/10087 0/6545 345/3542
?/? c.2463T>A r.(=) p.(=) g.153222402A>T Copied from the Exome Variant Server HCFC1_000096 2/10180 2/6570 0/3610
?/? c.2496+28C>G r.(=) p.(=) g.153222341G>C Copied from the Exome Variant Server HCFC1_000095 6/10349 0/6624 6/3725
?/? c.2497-41C>T r.(=) p.(=) g.153222255G>A Copied from the Exome Variant Server HCFC1_000094 1/10348 1/6632 0/3716
?/? c.2497-24T>C r.(=) p.(=) g.153222238A>G Copied from the Exome Variant Server HCFC1_000093 1/10363 0/6629 1/3734
?/? c.2517G>A r.(=) p.(=) g.153222194C>T Copied from the Exome Variant Server HCFC1_000092 1/10255 1/6594 0/3661
?/? c.2577C>T r.(=) p.(=) g.153222134G>A Copied from the Exome Variant Server HCFC1_000091 1/10299 1/6611 0/3688
?/? c.2589C>T r.(=) p.(=) g.153222122G>A Copied from the Exome Variant Server HCFC1_000090 2/10268 2/6610 0/3658
?/? c.2590G>A r.(?) p.(Ala864Thr) g.153222121C>T Copied from the Exome Variant Server HCFC1_000089 8/10265 7/6613 1/3652
?/? c.2604C>T r.(=) p.(=) g.153222107G>A Copied from the Exome Variant Server HCFC1_000088 3/10280 0/6603 3/3677
?/? c.2605G>A r.(?) p.(Val869Ile) g.153222106C>T Copied from the Exome Variant Server HCFC1_000087 1/10280 0/6605 1/3675
?/? c.2626G>A r.(?) p.(Gly876Ser) g.153222085C>T Copied from the Exome Variant Server HCFC1_000086 7/10271 6/6600 1/3671
?/? c.2635+22C>T r.(=) p.(=) g.153222054G>A Copied from the Exome Variant Server HCFC1_000085 420/10196 24/6579 396/3617
?/? c.2635+30A>T r.(=) p.(=) g.153222046T>A Copied from the Exome Variant Server HCFC1_000084 3/10168 2/6573 1/3595
?/? c.2635+45C>T r.(=) p.(=) g.153222031G>A Copied from the Exome Variant Server HCFC1_000083 3/10123 3/6560 0/3563
?/? c.2643G>A r.(=) p.(=) g.153221855C>T Copied from the Exome Variant Server HCFC1_000082 1/10465 0/6668 1/3797
?/? c.2691G>T r.(=) p.(=) g.153221807C>A Copied from the Exome Variant Server HCFC1_000081 1/10505 1/6692 0/3813
?/? c.2787C>T r.(=) p.(=) g.153221711G>A Copied from the Exome Variant Server HCFC1_000080 8/10563 8/6728 0/3835
?/? c.2799C>T r.(=) p.(=) g.153221699G>A Copied from the Exome Variant Server HCFC1_000079 1/10563 0/6728 1/3835
?/? c.2820G>A r.(=) p.(=) g.153221678C>T Copied from the Exome Variant Server HCFC1_000078 1/10563 0/6728 1/3835
?/? c.2841A>G r.(=) p.(=) g.153221657T>C Copied from the Exome Variant Server HCFC1_000077 3839/10558 1235/6723 2604/3835
?/? c.2856+10G>A r.(=) p.(=) g.153221632C>T Copied from the Exome Variant Server HCFC1_000076 1/10554 0/6719 1/3835
?/? c.2857-23C>G r.(=) p.(=) g.153221016G>C Copied from the Exome Variant Server HCFC1_000075 1/10486 1/6675 0/3811
?/? c.2872A>G r.(?) p.(Thr958Ala) g.153220978T>C Copied from the Exome Variant Server HCFC1_000074 15/10457 15/6676 0/3781
?/? c.2886G>A r.(=) p.(=) g.153220964C>T Copied from the Exome Variant Server HCFC1_000127 568/10445 4/6674 564/3771
?/? c.2892G>A r.(=) p.(=) g.153220958C>T Copied from the Exome Variant Server HCFC1_000126 1/10444 1/6671 0/3773
?/? c.2928C>A r.(?) p.(Asp976Glu) g.153220922G>T Copied from the Exome Variant Server HCFC1_000125 1/10477 1/6677 0/3800
?/? c.2974G>A r.(?) p.(Ala992Thr) g.153220876C>T Copied from the Exome Variant Server HCFC1_000124 2/10485 1/6684 1/3801
?/? c.2976C>T r.(=) p.(=) g.153220874G>A Copied from the Exome Variant Server HCFC1_000123 1/10485 0/6686 1/3799
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