Unique variants in gene MED14

Information The variants shown are described using the NM_004229.3 transcript reference sequence.

132 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.42_43del r.(?) p.(Gly15Argfs*31) g.40594622_40594623del Copied from the Exome Variant Server MED14_000130 10/3488 9/2204 1/1284
1 c.242+27A>C r.(=) p.(=) g.40588544T>G Copied from the Exome Variant Server MED14_000129 3/10553 0/6720 3/3833
1 c.242+51G>C r.(=) p.(=) g.40588520C>G Copied from the Exome Variant Server MED14_000128 1/10554 1/6723 0/3831
1 c.289G>A r.(?) p.(Val97Ile) g.40586057C>T Copied from the Exome Variant Server MED14_000127 1/10563 1/6728 0/3835
1 c.349-41G>C r.(=) p.(=) g.40574003C>G Copied from the Exome Variant Server MED14_000126 1/10561 0/6727 1/3834
1 c.387T>C r.(=) p.(=) g.40573924A>G Copied from the Exome Variant Server MED14_000125 98/10563 0/6728 98/3835
1 c.483A>G r.(=) p.(=) g.40573828T>C Copied from the Exome Variant Server MED14_000124 1/10563 0/6728 1/3835
1 c.501A>T r.(=) p.(=) g.40573810T>A Copied from the Exome Variant Server MED14_000122 1/10563 1/6728 0/3835
1 c.522+15T>G r.(=) p.(=) g.40573774A>C Copied from the Exome Variant Server MED14_000120 445/10563 126/6728 319/3835
1 c.522+23T>C r.(=) p.(=) g.40573766A>G Copied from the Exome Variant Server MED14_000118 36/10563 0/6728 36/3835
1 c.523-46_523-45insA r.(=) p.(=) g.40573204_40573205insT Copied from the Exome Variant Server MED14_000116 71/10199 35/6482 36/3717
1 c.523-40G>A r.(=) p.(=) g.40573199C>T Copied from the Exome Variant Server MED14_000114 2/10561 1/6726 1/3835
1 c.523-36G>A r.(=) p.(=) g.40573195C>T Copied from the Exome Variant Server MED14_000112 2/10563 0/6728 2/3835
1 c.523-18A>G r.(=) p.(=) g.40573177T>C Copied from the Exome Variant Server MED14_000110 2/10563 2/6728 0/3835
1 c.525C>T r.(=) p.(=) g.40573157G>A Copied from the Exome Variant Server MED14_000108 3197/10563 1203/6728 1994/3835
1 c.645T>G r.(=) p.(=) g.40573037A>C Copied from the Exome Variant Server MED14_000123 1/10563 1/6728 0/3835
1 c.653-31C>T r.(=) p.(=) g.40572325G>A Copied from the Exome Variant Server MED14_000121 1/10563 1/6728 0/3835
1 c.696C>A r.(=) p.(=) g.40572251G>T Copied from the Exome Variant Server MED14_000119 36/10563 34/6728 2/3835
1 c.763G>C r.(?) p.(Glu255Gln) g.40572184C>G Copied from the Exome Variant Server MED14_000117 1/10563 1/6728 0/3835
1 c.781+17G>A r.(=) p.(=) g.40572149C>T Copied from the Exome Variant Server MED14_000115 32/10561 0/6727 32/3834
1 c.782-47T>C r.(=) p.(=) g.40571592A>G Copied from the Exome Variant Server MED14_000113 1/10563 0/6728 1/3835
1 c.782-6C>T r.(=) p.(=) g.40571551G>A Copied from the Exome Variant Server MED14_000111 3/10563 0/6728 3/3835
1 c.889+14A>G r.(=) p.(=) g.40571424T>C Copied from the Exome Variant Server MED14_000109 60/10563 0/6728 60/3835
1 c.889+25A>G r.(=) p.(=) g.40571413T>C Copied from the Exome Variant Server MED14_000107 4312/10563 1267/6728 3045/3835
1 c.889+47A>G r.(=) p.(=) g.40571391T>C Copied from the Exome Variant Server MED14_000106 743/10563 80/6728 663/3835
1 c.890-28A>G r.(=) p.(=) g.40570581T>C Copied from the Exome Variant Server MED14_000105 1/10563 1/6728 0/3835
1 c.912G>A r.(=) p.(=) g.40570531C>T Copied from the Exome Variant Server MED14_000104 1/10563 1/6728 0/3835
1 c.957G>A r.(=) p.(=) g.40570486C>T Copied from the Exome Variant Server MED14_000103 2/10563 0/6728 2/3835
1 c.1022+52T>C r.(=) p.(=) g.40570369A>G Copied from the Exome Variant Server MED14_000102 1/4525 1/3107 0/1418
1 c.1023-41A>C r.(=) p.(=) g.40569422T>G Copied from the Exome Variant Server MED14_000101 1/10462 0/6683 1/3779
1 c.1023-32A>T r.(=) p.(=) g.40569413T>A Copied from the Exome Variant Server MED14_000100 23/10502 0/6694 23/3808
1 c.1023-15_1023-11del r.(=) p.(=) g.40569392_40569396del Copied from the Exome Variant Server MED14_000099 57/10179 2/6464 55/3715
1 c.1026A>G r.(=) p.(=) g.40569378T>C Copied from the Exome Variant Server MED14_000098 2/10558 0/6727 2/3831
1 c.1053A>G r.(=) p.(=) g.40569351T>C Copied from the Exome Variant Server MED14_000097 1/10562 1/6727 0/3835
1 c.1122C>T r.(=) p.(=) g.40569282G>A Copied from the Exome Variant Server MED14_000096 1/10563 1/6728 0/3835
1 c.1285+43C>T r.(=) p.(=) g.40568557G>A Copied from the Exome Variant Server MED14_000095 3/10541 0/6709 3/3832
1 c.1412-57_1412-54del r.(=) p.(=) g.40560549_40560552del Copied from the Exome Variant Server MED14_000094 2/10199 0/6480 2/3719
1 c.1416G>C r.(?) p.(Gln472His) g.40560491C>G Copied from the Exome Variant Server MED14_000132 4/10563 0/6728 4/3835
1 c.1464A>T r.(=) p.(=) g.40560443T>A Copied from the Exome Variant Server MED14_000092 1/10563 1/6728 0/3835
1 c.1490+46T>A r.(=) p.(=) g.40560371A>T Copied from the Exome Variant Server MED14_000131 2/10560 2/6727 0/3833
1 c.1491-24G>A r.(=) p.(=) g.40556459C>T Copied from the Exome Variant Server MED14_000093 2/10563 2/6728 0/3835
1 c.1511G>A r.(?) p.(Arg504His) g.40556415C>T Copied from the Exome Variant Server MED14_000091 1/10563 1/6728 0/3835
1 c.1641A>G r.(=) p.(=) g.40556285T>C Copied from the Exome Variant Server MED14_000090 1/10563 1/6728 0/3835
1 c.1650+14G>A r.(=) p.(=) g.40556262C>T Copied from the Exome Variant Server MED14_000089 1/10563 0/6728 1/3835
1 c.1650+25G>T r.(=) p.(=) g.40556251C>A Copied from the Exome Variant Server MED14_000088 274/10563 0/6728 274/3835
1 c.1651-21A>C r.(=) p.(=) g.40552175T>G Copied from the Exome Variant Server MED14_000087 2/10562 1/6727 1/3835
1 c.1651-4T>G r.spl? p.? g.40552158A>C Copied from the Exome Variant Server MED14_000086 29/10563 26/6728 3/3835
1 c.1676A>G r.(?) p.(Asn559Ser) g.40552129T>C Copied from the Exome Variant Server MED14_000085 32/10563 0/6728 32/3835
1 c.1753G>A r.(?) p.(Ala585Thr) g.40552052C>T Copied from the Exome Variant Server MED14_000084 1/10563 1/6728 0/3835
1 c.1786C>G r.(?) p.(Gln596Glu) g.40552019G>C Copied from the Exome Variant Server MED14_000083 32/10563 0/6728 32/3835
1 c.1795_1796insG r.(?) p.(Val599Glyfs*20) g.40552009_40552010insC Copied from the Exome Variant Server MED14_000082 10/10205 8/6484 2/3721
1 c.1802G>A r.(?) p.(Arg601His) g.40552003C>T Copied from the Exome Variant Server MED14_000081 2/10563 2/6728 0/3835
1 c.1811C>G r.(?) p.(Thr604Ser) g.40551994G>C Copied from the Exome Variant Server MED14_000080 1/10563 1/6728 0/3835
1 c.1812C>T r.(=) p.(=) g.40551993G>A Copied from the Exome Variant Server MED14_000079 275/10563 0/6728 275/3835
1 c.1825A>G r.(?) p.(Arg609Gly) g.40551980T>C Copied from the Exome Variant Server MED14_000078 4/10563 4/6728 0/3835
1 c.1831A>G r.(?) p.(Asn611Asp) g.40551974T>C Copied from the Exome Variant Server MED14_000077 1/10563 0/6728 1/3835
1 c.1845+9C>T r.(=) p.(=) g.40551951G>A Copied from the Exome Variant Server MED14_000076 1/10563 1/6728 0/3835
1 c.1845+27A>T r.(=) p.(=) g.40551933T>A Copied from the Exome Variant Server MED14_000075 1/10563 0/6728 1/3835
1 c.1846-50G>A r.(=) p.(=) g.40551619C>T Copied from the Exome Variant Server MED14_000074 1/10538 1/6713 0/3825
1 c.1936G>A r.(?) p.(Ala646Thr) g.40551479C>T Copied from the Exome Variant Server MED14_000073 1/10563 1/6728 0/3835
1 c.1939A>G r.(?) p.(Met647Val) g.40551476T>C Copied from the Exome Variant Server MED14_000072 3/10563 0/6728 3/3835
1 c.1980+28C>T r.(=) p.(=) g.40551407G>A Copied from the Exome Variant Server MED14_000071 1/10563 0/6728 1/3835
1 c.1980+35T>C r.(=) p.(=) g.40551400A>G Copied from the Exome Variant Server MED14_000070 32/10563 0/6728 32/3835
1 c.1980+42G>A r.(=) p.(=) g.40551393C>T Copied from the Exome Variant Server MED14_000069 1/10563 1/6728 0/3835
1 c.1981-29G>A r.(=) p.(=) g.40547811C>T Copied from the Exome Variant Server MED14_000068 13/10563 12/6728 1/3835
1 c.1981-27C>T r.(=) p.(=) g.40547809G>A Copied from the Exome Variant Server MED14_000067 1/10563 1/6728 0/3835
1 c.1981-21T>C r.(=) p.(=) g.40547803A>G Copied from the Exome Variant Server MED14_000066 1/10563 0/6728 1/3835
1 c.1988A>G r.(?) p.(Asn663Ser) g.40547775T>C Copied from the Exome Variant Server MED14_000065 3/10563 0/6728 3/3835
1 c.2045T>C r.(?) p.(Ile682Thr) g.40547718A>G Copied from the Exome Variant Server MED14_000064 1/10563 0/6728 1/3835
1 c.2057+11G>A r.(=) p.(=) g.40547695C>T Copied from the Exome Variant Server MED14_000063 1/10563 0/6728 1/3835
1 c.2094A>G r.(=) p.(=) g.40542212T>C Copied from the Exome Variant Server MED14_000062 172/10563 158/6728 14/3835
1 c.2161G>A r.(?) p.(Val721Ile) g.40542145C>T Copied from the Exome Variant Server MED14_000061 1/10563 1/6728 0/3835
1 c.2219-40_2219-39insT r.(=) p.(=) g.40542040_40542041insA Copied from the Exome Variant Server MED14_000060 2/10205 2/6484 0/3721
1 c.2219-33G>T r.(=) p.(=) g.40542034C>A Copied from the Exome Variant Server MED14_000059 2/10563 0/6728 2/3835
1 c.2219-7C>A r.(=) p.(=) g.40542008G>T Copied from the Exome Variant Server MED14_000058 1/10563 0/6728 1/3835
1 c.2219-4G>T r.spl? p.? g.40542005C>A Copied from the Exome Variant Server MED14_000057 1/10563 0/6728 1/3835
1 c.2232C>T r.(=) p.(=) g.40541988G>A Copied from the Exome Variant Server MED14_000056 1/10563 1/6728 0/3835
1 c.2354G>A r.(?) p.(Arg785His) g.40541866C>T Copied from the Exome Variant Server MED14_000055 2/10540 2/6708 0/3832
1 c.2359C>T r.(=) p.(=) g.40541861G>A Copied from the Exome Variant Server MED14_000054 1/10525 0/6697 1/3828
1 c.2365+7G>C r.(=) p.(=) g.40541848C>G Copied from the Exome Variant Server MED14_000052 1/10449 0/6640 1/3809
1 c.2365+10G>T r.(=) p.(=) g.40541845C>A Copied from the Exome Variant Server MED14_000050 3/10431 0/6621 3/3810
1 c.2365+36A>T r.(=) p.(=) g.40541819T>A Copied from the Exome Variant Server MED14_000048 94/9530 7/5981 87/3549
1 c.2365+46del r.(=) p.(=) g.40541809del Copied from the Exome Variant Server MED14_000046 1351/8757 887/5461 464/3296
1 c.2365+46dup r.(=) p.(=) g.40541809dup Copied from the Exome Variant Server MED14_000045 192/8757 115/5461 77/3296
1 c.2366-8C>G r.(=) p.(=) g.40541203G>C Copied from the Exome Variant Server MED14_000042 38/10552 0/6721 38/3831
1 c.2374G>C r.(?) p.(Ala792Pro) g.40541187C>G Copied from the Exome Variant Server MED14_000040 1/10557 1/6722 0/3835
1 c.2417G>A r.(?) p.(Arg806Gln) g.40541144C>T Copied from the Exome Variant Server MED14_000038 1/10552 1/6717 0/3835
1 c.2425A>G r.(?) p.(Ile809Val) g.40541136T>C Copied from the Exome Variant Server MED14_000036 1/10554 0/6719 1/3835
1 c.2457+35A>C r.(=) p.(=) g.40541069T>G Copied from the Exome Variant Server MED14_000034 1/10554 1/6721 0/3833
1 c.2610+23T>C r.(=) p.(=) g.40539987A>G Copied from the Exome Variant Server MED14_000032 2/10559 2/6728 0/3831
1 c.2611-30G>A r.(=) p.(=) g.40539415C>T Copied from the Exome Variant Server MED14_000053 1/10563 1/6728 0/3835
1 c.2770A>G r.(?) p.(Ile924Val) g.40539226T>C Copied from the Exome Variant Server MED14_000051 1/10563 1/6728 0/3835
1 c.2860T>C r.(?) p.(Tyr954His) g.40539136A>G Copied from the Exome Variant Server MED14_000049 14/10563 13/6728 1/3835
1 c.2880+12T>C r.(=) p.(=) g.40539104A>G Copied from the Exome Variant Server MED14_000047 1/10563 0/6728 1/3835
1 c.2880+31A>C r.(=) p.(=) g.40539085T>G Copied from the Exome Variant Server MED14_000044 5/10562 0/6727 5/3835
1 c.2921G>A r.(?) p.(Arg974Gln) g.40534573C>T Copied from the Exome Variant Server MED14_000043 2/10563 2/6728 0/3835
1 c.2932G>A r.(?) p.(Val978Ile) g.40534562C>T Copied from the Exome Variant Server MED14_000041 1/10563 1/6728 0/3835
1 c.2983T>G r.(?) p.(Ser995Ala) g.40534511A>C Copied from the Exome Variant Server MED14_000039 2/10563 2/6728 0/3835
1 c.3022-40G>A r.(=) p.(=) g.40531264C>T Copied from the Exome Variant Server MED14_000037 1/10563 0/6728 1/3835
1 c.3039A>T r.(=) p.(=) g.40531207T>A Copied from the Exome Variant Server MED14_000035 1/10563 1/6728 0/3835
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