Full data view for gene HLA-DRB5

Information The variants shown are described using the NM_002125.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.40A>G r.(?) p.(Lys14Glu) g.32497962T>C Copied from the Exome Variant Server HLA-DRB5_000088 8652/12860 5826/8528 2826/4332 - - - - - - -
?/? c.41A>C r.(?) p.(Lys14Thr) g.32497961T>G Copied from the Exome Variant Server HLA-DRB5_000087 8435/12874 5681/8532 2754/4342 - - - - - - -
?/? c.59T>C r.(?) p.(Met20Thr) g.32497943A>G Copied from the Exome Variant Server HLA-DRB5_000086 3871/13006 2883/8600 988/4406 - - - - - - -
?/? c.85G>T r.(?) p.(Ala29Ser) g.32497917C>A Copied from the Exome Variant Server HLA-DRB5_000085 1054/13006 739/8600 315/4406 - - - - - - -
?/? c.100+32T>C r.(=) p.(=) g.32497870A>G Copied from the Exome Variant Server HLA-DRB5_000084 1291/13004 923/8600 368/4404 - - - - - - -
?/? c.100+52G>A r.(=) p.(=) g.32497850C>T Copied from the Exome Variant Server HLA-DRB5_000083 3/5734 3/3982 0/1752 - - - - - - -
?/? c.101-49A>G r.(=) p.(=) g.32490000T>C Copied from the Exome Variant Server HLA-DRB5_000081 1091/4970 634/3208 457/1762 - - - - - - -
?/? c.103C>T r.(?) p.(Arg35Cys) g.32489949G>A Copied from the Exome Variant Server HLA-DRB5_000080 332/8094 241/5312 91/2782 - - - - - - -
?/? c.111_112insTGG r.(?) p.(Leu37_Gln38insTrp) g.32489940_32489941insCCA Copied from the Exome Variant Server HLA-DRB5_000078 894/8830 605/5822 289/3008 - - - - - - -
?/? c.112C>A r.(?) p.(Gln38Lys) g.32489940G>T Copied from the Exome Variant Server HLA-DRB5_000076 360/7614 137/4952 223/2662 - - - - - - -
?/? c.129G>A r.(=) p.(=) g.32489923C>T Copied from the Exome Variant Server HLA-DRB5_000074 208/8942 160/5830 48/3112 - - - - - - -
?/? c.171C>A r.(?) p.(His57Gln) g.32489881G>T Copied from the Exome Variant Server HLA-DRB5_000072 170/8820 134/5842 36/2978 - - - - - - -
?/? c.171_172del r.(?) p.(His57Glnfs*5) g.32489880_32489881del Copied from the Exome Variant Server HLA-DRB5_000082 3781/10190 2493/6766 1288/3424 - - - - - - -
?/? c.176A>G r.(?) p.(Asp59Gly) g.32489876T>C Copied from the Exome Variant Server HLA-DRB5_000079 828/8712 515/5766 313/2946 - - - - - - -
?/? c.178_179insCT r.(?) p.(Ile60Thrfs*21) g.32489873_32489874insAG Copied from the Exome Variant Server HLA-DRB5_000077 2844/10508 1672/6982 1172/3526 - - - - - - -
?/? c.199T>G r.(?) p.(Leu67Val) g.32489853A>C Copied from the Exome Variant Server HLA-DRB5_000075 7415/11086 4829/7296 2586/3790 - - - - - - -
?/? c.258C>T r.(=) p.(=) g.32489794G>A Copied from the Exome Variant Server HLA-DRB5_000073 5053/12794 3121/8462 1932/4332 - - - - - - -
?/? c.260C>A r.(?) p.(Ala87Asp) g.32489792G>T Copied from the Exome Variant Server HLA-DRB5_000071 49/12796 25/8462 24/4334 - - - - - - -
?/? c.297_298del r.(?) p.(Asp99Glufs*17) g.32489754_32489755del Copied from the Exome Variant Server HLA-DRB5_000070 3500/11456 2478/7508 1022/3948 - - - - - - -
?/? c.299G>A r.(?) p.(Arg100Lys) g.32489753C>T Copied from the Exome Variant Server HLA-DRB5_000069 403/11414 210/7520 193/3894 - - - - - - -
?/? c.303C>G r.(=) p.(=) g.32489749G>C Copied from the Exome Variant Server HLA-DRB5_000068 7640/11718 5096/7766 2544/3952 - - - - - - -
?/? c.321C>T r.(=) p.(=) g.32489731G>A Copied from the Exome Variant Server HLA-DRB5_000067 179/12642 79/8364 100/4278 - - - - - - -
?/? c.364C>A r.(=) p.(=) g.32489688G>T Copied from the Exome Variant Server HLA-DRB5_000066 173/12708 59/8406 114/4302 - - - - - - -
?/? c.370+3G>A r.spl? p.? g.32489679C>T Copied from the Exome Variant Server HLA-DRB5_000065 173/12606 58/8340 115/4266 - - - - - - -
?/? c.370+7_370+9del r.(=) p.(=) g.32489673_32489675del Copied from the Exome Variant Server HLA-DRB5_000064 2394/12100 1586/7990 808/4110 - - - - - - -
?/? c.370+10del r.(=) p.(=) g.32489672del Copied from the Exome Variant Server HLA-DRB5_000063 4406/12032 2657/7946 1749/4086 - - - - - - -
?/? c.370+7_370+11del r.(=) p.(=) g.32489671_32489675del Copied from the Exome Variant Server HLA-DRB5_000062 2085/12044 1373/7952 712/4092 - - - - - - -
?/? c.370+11T>C r.(=) p.(=) g.32489671A>G Copied from the Exome Variant Server HLA-DRB5_000061 1131/11946 588/7842 543/4104 - - - - - - -
?/? c.370+12G>C r.(=) p.(=) g.32489670C>G Copied from the Exome Variant Server HLA-DRB5_000060 1/11966 0/7854 1/4112 - - - - - - -
?/? c.370+7_370+13del r.(=) p.(=) g.32489669_32489675del Copied from the Exome Variant Server HLA-DRB5_000059 2153/12046 1405/7944 748/4102 - - - - - - -
?/? c.370+12_370+13insC r.(=) p.(=) g.32489669_32489670insG Copied from the Exome Variant Server HLA-DRB5_000058 642/12036 465/7936 177/4100 - - - - - - -
?/? c.370+7_370+16del r.(=) p.(=) g.32489666_32489675del Copied from the Exome Variant Server HLA-DRB5_000057 1098/12026 752/7932 346/4094 - - - - - - -
?/? c.370+32T>C r.(=) p.(=) g.32489650A>G Copied from the Exome Variant Server HLA-DRB5_000056 7316/10960 4664/7126 2652/3834 - - - - - - -
?/? c.370+38G>A r.(=) p.(=) g.32489644C>T Copied from the Exome Variant Server HLA-DRB5_000055 157/10756 55/6966 102/3790 - - - - - - -
?/? c.370+40T>G r.(=) p.(=) g.32489642A>C Copied from the Exome Variant Server HLA-DRB5_000054 474/10390 362/6682 112/3708 - - - - - - -
?/? c.371-14_371-13insG r.(=) p.(=) g.32487441_32487442insC Copied from the Exome Variant Server HLA-DRB5_000053 699/8946 573/6280 126/2666 - - - - - - -
?/? c.371-8_371-7insT r.(=) p.(=) g.32487435_32487436insA Copied from the Exome Variant Server HLA-DRB5_000052 1546/9026 1167/6338 379/2688 - - - - - - -
?/? c.371-4_379del r.spl? p.? g.32487420_32487432del Copied from the Exome Variant Server HLA-DRB5_000051 1771/10584 1064/7308 707/3276 - - - - - - -
?/? c.376_381del r.(?) p.(Pro126_Lys127del) g.32487418_32487423del Copied from the Exome Variant Server HLA-DRB5_000050 1294/10488 1060/7268 234/3220 - - - - - - -
?/? c.401G>A r.(?) p.(Arg134Lys) g.32487398C>T Copied from the Exome Variant Server HLA-DRB5_000049 7364/11322 5153/7816 2211/3506 - - - - - - -
?/? c.409A>C r.(?) p.(Thr137Pro) g.32487390T>G Copied from the Exome Variant Server HLA-DRB5_000048 7507/11440 5238/7882 2269/3558 - - - - - - -
?/? c.421C>T r.(?) p.(His141Tyr) g.32487378G>A Copied from the Exome Variant Server HLA-DRB5_000047 1/11994 1/8198 0/3796 - - - - - - -
?/? c.438C>T r.(=) p.(=) g.32487361G>A Copied from the Exome Variant Server HLA-DRB5_000046 612/12044 306/8200 306/3844 - - - - - - -
?/? c.446A>G r.(?) p.(Asn149Ser) g.32487353T>C Copied from the Exome Variant Server HLA-DRB5_000045 3315/12076 2078/8220 1237/3856 - - - - - - -
?/? c.490A>G r.(?) p.(Ser164Gly) g.32487309T>C Copied from the Exome Variant Server HLA-DRB5_000044 8874/12760 5930/8470 2944/4290 - - - - - - -
?/? c.499G>A r.(?) p.(Glu167Lys) g.32487300C>T Copied from the Exome Variant Server HLA-DRB5_000043 6/12760 0/8474 6/4286 - - - - - - -
?/? c.531T>C r.(=) p.(=) g.32487268A>G Copied from the Exome Variant Server HLA-DRB5_000042 8004/11670 5362/7814 2642/3856 - - - - - - -
?/? c.543C>T r.(=) p.(=) g.32487256G>A Copied from the Exome Variant Server HLA-DRB5_000041 648/11602 469/7734 179/3868 - - - - - - -
?/? c.557C>T r.(?) p.(Thr186Ile) g.32487242G>A Copied from the Exome Variant Server HLA-DRB5_000040 265/11366 185/7558 80/3808 - - - - - - -
?/? c.558C>T r.(=) p.(=) g.32487241G>A Copied from the Exome Variant Server HLA-DRB5_000039 260/11356 184/7552 76/3804 - - - - - - -
?/? c.585A>G r.(=) p.(=) g.32487214T>C Copied from the Exome Variant Server HLA-DRB5_000038 7609/10896 5042/7236 2567/3660 - - - - - - -
?/? c.573_591del r.(?) p.(Thr192Argfs*12) g.32487208_32487226del Copied from the Exome Variant Server HLA-DRB5_000037 49/10570 29/7010 20/3560 - - - - - - -
?/? c.624C>T r.(=) p.(=) g.32487175G>A Copied from the Exome Variant Server HLA-DRB5_000036 2280/11330 1591/7536 689/3794 - - - - - - -
?/? c.625G>C r.(?) p.(Val209Leu) g.32487174C>G Copied from the Exome Variant Server HLA-DRB5_000035 1288/11304 1085/7520 203/3784 - - - - - - -
?/? c.629C>T r.(?) p.(Thr210Met) g.32487170G>A Copied from the Exome Variant Server HLA-DRB5_000034 1548/11284 1057/7504 491/3780 - - - - - - -
?/? c.634C>G r.(?) p.(Pro212Ala) g.32487165G>C Copied from the Exome Variant Server HLA-DRB5_000033 1051/11170 689/7410 362/3760 - - - - - - -
?/? c.652+3G>A r.spl? p.? g.32487144C>T Copied from the Exome Variant Server HLA-DRB5_000031 94/10536 39/6958 55/3578 - - - - - - -
?/? c.652+33A>C r.(=) p.(=) g.32487114T>G Copied from the Exome Variant Server HLA-DRB5_000029 5693/8882 3845/5970 1848/2912 - - - - - - -
?/? c.652+43A>C r.(=) p.(=) g.32487104T>G Copied from the Exome Variant Server HLA-DRB5_000027 1390/7236 1158/5046 232/2190 - - - - - - -
?/? c.652+46A>G r.(=) p.(=) g.32487101T>C Copied from the Exome Variant Server HLA-DRB5_000025 2278/6452 1765/4582 513/1870 - - - - - - -
?/? c.652+47_652+48insG r.(=) p.(=) g.32487099_32487100insC Copied from the Exome Variant Server HLA-DRB5_000023 842/7162 542/4912 300/2250 - - - - - - -
?/? c.653-28_653-26del r.(=) p.(=) g.32486469_32486471del Copied from the Exome Variant Server HLA-DRB5_000021 221/6704 161/4808 60/1896 - - - - - - -
?/? c.653-8T>A r.(=) p.(=) g.32486451A>T Copied from the Exome Variant Server HLA-DRB5_000032 486/6700 312/4810 174/1890 - - - - - - -
?/? c.659A>G r.(?) p.(Gln220Arg) g.32486437T>C Copied from the Exome Variant Server HLA-DRB5_000030 1367/7338 1064/5184 303/2154 - - - - - - -
?/? c.694G>A r.(?) p.(Val232Ile) g.32486402C>T Copied from the Exome Variant Server HLA-DRB5_000028 266/7916 245/5516 21/2400 - - - - - - -
?/? c.696C>T r.(=) p.(=) g.32486400G>A Copied from the Exome Variant Server HLA-DRB5_000026 7/7908 5/5512 2/2396 - - - - - - -
?/? c.763+19_763+20insT r.(=) p.(=) g.32486313_32486314insA Copied from the Exome Variant Server HLA-DRB5_000024 1285/5600 899/3870 386/1730 - - - - - - -
?/? c.764-56del r.(=) p.(=) g.32485910del Copied from the Exome Variant Server HLA-DRB5_000022 1744/5488 1125/3652 619/1836 - - - - - - -
?/? c.764-51del r.(=) p.(=) g.32485905del Copied from the Exome Variant Server HLA-DRB5_000020 1809/5572 1177/3720 632/1852 - - - - - - -
?/? c.764-36_764-35insT r.(=) p.(=) g.32485889_32485890insA Copied from the Exome Variant Server HLA-DRB5_000019 236/7536 168/4976 68/2560 - - - - - - -
?/? c.764-16_764-14del r.(=) p.(=) g.32485868_32485870del Copied from the Exome Variant Server HLA-DRB5_000018 59/8260 50/5448 9/2812 - - - - - - -
?/? c.787+24A>G r.(=) p.(=) g.32485807T>C Copied from the Exome Variant Server HLA-DRB5_000017 76/8828 39/5838 37/2990 - - - - - - -
?/? c.787+36del r.(=) p.(=) g.32485795del Copied from the Exome Variant Server HLA-DRB5_000016 256/8088 180/5356 76/2732 - - - - - - -
?/? c.787+40_787+41insC r.(=) p.(=) g.32485790_32485791insG Copied from the Exome Variant Server HLA-DRB5_000015 972/6248 620/4222 352/2026 - - - - - - -
?/? c.787+41del r.(=) p.(=) g.32485790del Copied from the Exome Variant Server HLA-DRB5_000014 322/5580 227/3808 95/1772 - - - - - - -
?/? c.787+49_787+50insT r.(=) p.(=) g.32485781_32485782insA Copied from the Exome Variant Server HLA-DRB5_000013 52/5378 31/3632 21/1746 - - - - - - -
?/? c.787+87del r.(=) p.(=) g.32485744del Copied from the Exome Variant Server HLA-DRB5_000012 746/4574 555/3140 191/1434 - - - - - - -
?/? c.787+86_787+88del r.(=) p.(=) g.32485743_32485745del Copied from the Exome Variant Server HLA-DRB5_000011 108/4574 82/3140 26/1434 - - - - - - -
?/? c.788-47del r.(=) p.(=) g.32485576del Copied from the Exome Variant Server HLA-DRB5_000010 365/8088 299/5640 66/2448 - - - - - - -
?/? c.788-31del r.(=) p.(=) g.32485560del Copied from the Exome Variant Server HLA-DRB5_000009 40/6898 26/4908 14/1990 - - - - - - -
?/? c.788-21_788-19del r.(=) p.(=) g.32485548_32485550del Copied from the Exome Variant Server HLA-DRB5_000008 1567/7212 1123/5094 444/2118 - - - - - - -
?/? c.788-5T>C r.spl? p.? g.32485534A>G Copied from the Exome Variant Server HLA-DRB5_000007 230/7888 133/5540 97/2348 - - - - - - -
?/? c.788-5_788-4insT r.spl? p.? g.32485533_32485534insA Copied from the Exome Variant Server HLA-DRB5_000006 1313/8454 959/5992 354/2462 - - - - - - -
?/? c.794_795del r.(?) p.(Val265Glufs*6) g.32485522_32485523del Copied from the Exome Variant Server HLA-DRB5_000005 585/8888 337/6232 248/2656 - - - - - - -
?/? c.*13del r.(=) p.(=) g.32485503del Copied from the Exome Variant Server HLA-DRB5_000004 763/9108 451/6352 312/2756 - - - - - - -
?/? c.*15_*16del r.(=) p.(=) g.32485500_32485501del Copied from the Exome Variant Server HLA-DRB5_000003 213/9120 119/6362 94/2758 - - - - - - -
?/? c.*25G>A r.(=) p.(=) g.32485491C>T Copied from the Exome Variant Server HLA-DRB5_000002 1931/8508 1326/5916 605/2592 - - - - - - -
?/? c.*47C>A r.(=) p.(=) g.32485469G>T Copied from the Exome Variant Server HLA-DRB5_000001 12/7942 7/5484 5/2458 - - - - - - -
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