Unique variants in gene ASMT

Information The variants shown are described using the NM_004043.2 transcript reference sequence.

272 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.-129C>G r.(=) p.(=) g.1714364C>G Copied from the Exome Variant Server ASMT_000006 1/12998 1/8592 0/4406
1 c.-112G>A r.(=) p.(=) g.1714381G>A Copied from the Exome Variant Server ASMT_000008 1/12998 0/8592 1/4406
1 c.-95C>T r.(=) p.(=) g.1714398C>T Copied from the Exome Variant Server ASMT_000010 1/12998 1/8592 0/4406
1 c.-86G>A r.(=) p.(=) g.1714407G>A Copied from the Exome Variant Server ASMT_000012 2/12998 1/8592 1/4406
1 c.-68+12G>A r.(=) p.(=) g.1714437G>A Copied from the Exome Variant Server ASMT_000014 1/12998 1/8592 0/4406
1 c.-68+17C>G r.(=) p.(=) g.1714442C>G Copied from the Exome Variant Server ASMT_000001 1/12998 1/8592 0/4406
1 c.-68+26G>A r.(=) p.(=) g.1714451G>A Copied from the Exome Variant Server ASMT_000002 1/12998 0/8592 1/4406
1 c.-68+29G>A r.(=) p.(=) g.1714454G>A Copied from the Exome Variant Server ASMT_000003 3/12998 0/8592 3/4406
1 c.-68+35G>A r.(=) p.(=) g.1714460G>A Copied from the Exome Variant Server ASMT_000004 3/12998 0/8592 3/4406
1 c.-68+38C>T r.(=) p.(=) g.1714463C>T Copied from the Exome Variant Server ASMT_000005 1/12998 1/8592 0/4406
1 c.-68+39G>A r.(=) p.(=) g.1714464G>A Copied from the Exome Variant Server ASMT_000007 1/12998 1/8592 0/4406
1 c.-68+46G>A r.(=) p.(=) g.1714471G>A Copied from the Exome Variant Server ASMT_000009 240/12998 216/8592 24/4406
1 c.-68+3622G>A r.(=) p.(=) g.1718047G>A Copied from the Exome Variant Server ASMT_000011 39/12998 37/8592 2/4406
1 c.-68+3624C>T r.(=) p.(=) g.1718049C>T Copied from the Exome Variant Server ASMT_000013 1/12998 1/8592 0/4406
1 c.-68+3625G>A r.(=) p.(=) g.1718050G>A Copied from the Exome Variant Server ASMT_000015 4/12998 4/8592 0/4406
1 c.-68+3626C>G r.(=) p.(=) g.1718051C>G Copied from the Exome Variant Server ASMT_000016 1/12998 1/8592 0/4406
1 c.-68+3640C>G r.(=) p.(=) g.1718065C>G Copied from the Exome Variant Server ASMT_000017 2/12998 2/8592 0/4406
1 c.-68+3644G>A r.(=) p.(=) g.1718069G>A Copied from the Exome Variant Server ASMT_000018 40/12998 2/8592 38/4406
1 c.-68+3681G>C r.(?) p.(Glu311Asp) g.1718106G>C Copied from the Exome Variant Server ASMT_000019 25/12998 25/8592 0/4406
1 c.-68+3689G>A r.(?) p.(Arg314Gln) g.1718114G>A Copied from the Exome Variant Server ASMT_000020 6/12998 4/8592 2/4406
1 c.-68+3691G>C r.(?) p.(Glu315Gln) g.1718116G>C Copied from the Exome Variant Server ASMT_000021 1/12998 1/8592 0/4406
1 c.-68+3693G>C r.(?) p.(Glu315Asp) g.1718118G>C Copied from the Exome Variant Server ASMT_000022 5/12998 0/8592 5/4406
1 c.-68+3732G>A r.(=) p.(=) g.1718157G>A Copied from the Exome Variant Server ASMT_000023 31/12998 27/8592 4/4406
1 c.-68+3737G>C r.(?) p.(Arg330Thr) g.1718162G>C Copied from the Exome Variant Server ASMT_000024 4/12998 4/8592 0/4406
1 c.-68+3743G>A r.(?) p.(Arg332His) g.1718168G>A Copied from the Exome Variant Server ASMT_000025 1/12998 0/8592 1/4406
1 c.-68+3745G>C r.(?) p.(Glu333Gln) g.1718170G>C Copied from the Exome Variant Server ASMT_000026 1/12998 1/8592 0/4406
1 c.-68+3755G>A r.(?) p.(Arg336Gln) g.1718180G>A Copied from the Exome Variant Server ASMT_000027 1/12998 1/8592 0/4406
1 c.-68+3761_-68+3763del r.(?) p.(Lys340del) g.1718186_1718188del Copied from the Exome Variant Server ASMT_000028 21/12504 15/8246 6/4258
1 c.-68+3772G>C r.(?) p.(Glu342Gln) g.1718197G>C Copied from the Exome Variant Server ASMT_000029 1/12998 1/8592 0/4406
1 c.-68+3786G>A r.(=) p.(=) g.1718211G>A Copied from the Exome Variant Server ASMT_000030 1/12998 0/8592 1/4406
1 c.-68+3822del r.(?) p.(Glu359Argfs*28) g.1718247del Copied from the Exome Variant Server ASMT_000031 2/12492 1/8234 1/4258
1 c.-68+3830G>A r.(?) p.(Arg361His) g.1718255G>A Copied from the Exome Variant Server ASMT_000032 1/12988 1/8584 0/4404
1 c.-68+3879C>A r.(=) p.(=) g.1718304C>A Copied from the Exome Variant Server ASMT_000033 97/12914 4/8542 93/4372
1 c.-68+3907G>A r.(=) p.(=) g.1718332G>A Copied from the Exome Variant Server ASMT_000034 1/12700 1/8408 0/4292
1 c.-68+3911G>A r.(=) p.(=) g.1718336G>A Copied from the Exome Variant Server ASMT_000035 4/12608 1/8350 3/4258
1 c.-68+3933G>A r.(=) p.(=) g.1718358G>A Copied from the Exome Variant Server ASMT_000036 31/12450 0/8254 31/4196
1 c.-68+3935G>A r.(=) p.(=) g.1718360G>A Copied from the Exome Variant Server ASMT_000037 5455/12444 3898/8254 1557/4190
1 c.-68+5095C>T r.(=) p.(=) g.1719520C>T Copied from the Exome Variant Server ASMT_000038 8/10998 0/7230 8/3768
1 c.-68+5096G>T r.(=) p.(=) g.1719521G>T Copied from the Exome Variant Server ASMT_000039 2/11014 1/7246 1/3768
1 c.-68+5123G>T r.(=) p.(=) g.1719548G>T Copied from the Exome Variant Server ASMT_000040 66/11678 1/7710 65/3968
1 c.-68+5174C>G r.(=) p.(=) g.1719599C>G Copied from the Exome Variant Server ASMT_000041 2/12338 2/8194 0/4144
1 c.-68+5175_-68+5177del r.(?) p.(Gln403del) g.1719600_1719602del Copied from the Exome Variant Server ASMT_000042 25/11636 21/7734 4/3902
1 c.-68+5218G>A r.(?) p.(Arg415Gln) g.1719643G>A Copied from the Exome Variant Server ASMT_000043 4/12656 3/8374 1/4282
1 c.-68+5222C>T r.(=) p.(=) g.1719647C>T Copied from the Exome Variant Server ASMT_000044 1/12716 1/8412 0/4304
1 c.-68+5231G>A r.(=) p.(=) g.1719656G>A Copied from the Exome Variant Server ASMT_000045 3/12810 3/8480 0/4330
1 c.-68+5246G>A r.(=) p.(=) g.1719671G>A Copied from the Exome Variant Server ASMT_000046 1/12880 0/8524 1/4356
1 c.-68+5247C>T r.(=) p.(=) g.1719672C>T Copied from the Exome Variant Server ASMT_000047 1/12892 1/8530 0/4362
1 c.-68+5314C>T r.(?) p.(Pro447Leu) g.1719739C>T Copied from the Exome Variant Server ASMT_000048 3/12872 3/8514 0/4358
1 c.-68+5318C>T r.(=) p.(=) g.1719743C>T Copied from the Exome Variant Server ASMT_000049 5/12886 5/8522 0/4364
1 c.-68+5325C>T r.(?) p.(His451Tyr) g.1719750C>T Copied from the Exome Variant Server ASMT_000050 2/12918 2/8544 0/4374
1 c.-68+5330A>C r.(=) p.(=) g.1719755A>C Copied from the Exome Variant Server ASMT_000051 1/12926 0/8550 1/4376
1 c.-68+5345C>T r.(=) p.(=) g.1719770C>T Copied from the Exome Variant Server ASMT_000052 2/12910 0/8542 2/4368
1 c.-68+5346G>A r.(?) p.(Val458Met) g.1719771G>A Copied from the Exome Variant Server ASMT_000053 1/12918 0/8544 1/4374
1 c.-68+5354C>T r.(=) p.(=) g.1719779C>T Copied from the Exome Variant Server ASMT_000054 1/12924 1/8550 0/4374
1 c.-68+5357C>T r.(=) p.(=) g.1719782C>T Copied from the Exome Variant Server ASMT_000055 7/12916 6/8544 1/4372
1 c.-68+5358G>A r.(?) p.(Asp462Asn) g.1719783G>A Copied from the Exome Variant Server ASMT_000056 1/12918 1/8542 0/4376
1 c.-68+5363G>A r.(=) p.(=) g.1719788G>A Copied from the Exome Variant Server ASMT_000057 18/12924 16/8548 2/4376
1 c.-68+5378G>A r.(=) p.(=) g.1719803G>A Copied from the Exome Variant Server ASMT_000058 4/12910 4/8538 0/4372
1 c.-68+5399G>A r.(=) p.(=) g.1719824G>A Copied from the Exome Variant Server ASMT_000059 4/12772 0/8442 4/4330
1 c.-68+5403G>A r.(?) p.(Gly477Ser) g.1719828G>A Copied from the Exome Variant Server ASMT_000060 1/12736 0/8404 1/4332
1 c.-68+5414C>T r.(=) p.(=) g.1719839C>T Copied from the Exome Variant Server ASMT_000061 4/12706 0/8378 4/4328
1 c.-68+5422C>T r.(?) p.(Thr483Met) g.1719847C>T Copied from the Exome Variant Server ASMT_000062 2/12696 2/8374 0/4322
1 c.-68+5423G>A r.(=) p.(=) g.1719848G>A Copied from the Exome Variant Server ASMT_000063 111/12682 1/8362 110/4320
1 c.-68+5435C>T r.(=) p.(=) g.1719860C>T Copied from the Exome Variant Server ASMT_000064 1/12650 0/8338 1/4312
1 c.-68+5449C>T r.(?) p.(Pro492Leu) g.1719874C>T Copied from the Exome Variant Server ASMT_000065 23/12730 1/8386 22/4344
1 c.-68+5466G>C r.(?) p.(Glu498Gln) g.1719891G>C Copied from the Exome Variant Server ASMT_000066 2/12908 2/8530 0/4378
1 c.-68+5468G>C r.(?) p.(Glu498Asp) g.1719893G>C Copied from the Exome Variant Server ASMT_000067 5/12912 0/8534 5/4378
1 c.-68+5472C>G r.(?) p.(Pro500Ala) g.1719897C>G Copied from the Exome Variant Server ASMT_000068 6723/12932 4722/8550 2001/4382
1 c.-68+5474G>A r.(=) p.(=) g.1719899G>A Copied from the Exome Variant Server ASMT_000069 2/12952 0/8556 2/4396
1 c.-68+5490G>A r.(?) p.(Asp506Asn) g.1719915G>A Copied from the Exome Variant Server ASMT_000070 12/12990 9/8590 3/4400
1 c.-68+5492C>A r.(?) p.(Asp506Glu) g.1719917C>A Copied from the Exome Variant Server ASMT_000071 3/12990 0/8590 3/4400
1 c.-68+5495C>T r.(=) p.(=) g.1719920C>T Copied from the Exome Variant Server ASMT_000072 3/12994 0/8592 3/4402
1 c.-68+5496G>A r.(?) p.(Ala508Thr) g.1719921G>A Copied from the Exome Variant Server ASMT_000073 2/12994 2/8592 0/4402
1 c.-68+5503A>G r.(?) p.(Lys510Arg) g.1719928A>G Copied from the Exome Variant Server ASMT_000074 3/12996 1/8592 2/4404
1 c.-68+5508G>A r.(?) p.(Val512Met) g.1719933G>A Copied from the Exome Variant Server ASMT_000075 137/12996 0/8592 137/4404
1 c.-68+5519C>T r.(=) p.(=) g.1719944C>T Copied from the Exome Variant Server ASMT_000076 3/12996 1/8592 2/4404
1 c.-68+5520G>A r.(?) p.(Val516Met) g.1719945G>A Copied from the Exome Variant Server ASMT_000077 2/12996 1/8592 1/4404
1 c.-68+5525C>T r.(=) p.(=) g.1719950C>T Copied from the Exome Variant Server ASMT_000078 4/12996 4/8592 0/4404
1 c.-68+5538T>C r.(?) p.(Cys522Arg) g.1719963T>C Copied from the Exome Variant Server ASMT_000079 13/12998 0/8592 13/4406
1 c.-68+5546G>A r.(=) p.(=) g.1719971G>A Copied from the Exome Variant Server ASMT_000081 2/12998 0/8592 2/4406
1 c.-68+5557C>T r.(?) p.(Ser528Phe) g.1719982C>T Copied from the Exome Variant Server ASMT_000080 2/12998 2/8592 0/4406
1 c.-68+5562C>T r.(?) p.(Arg530Cys) g.1719987C>T Copied from the Exome Variant Server ASMT_000082 2/12998 0/8592 2/4406
1 c.-68+5563G>A r.(?) p.(Arg530His) g.1719988G>A Copied from the Exome Variant Server ASMT_000083 9/12998 9/8592 0/4406
1 c.-68+5574G>A r.(?) p.(Glu534Lys) g.1719999G>A Copied from the Exome Variant Server ASMT_000084 2/12998 1/8592 1/4406
1 c.-68+5602C>T r.(?) p.(Pro543Leu) g.1720027C>T Copied from the Exome Variant Server ASMT_000085 87/12998 3/8592 84/4406
1 c.-68+5603G>A r.(=) p.(=) g.1720028G>A Copied from the Exome Variant Server ASMT_000086 3/12998 0/8592 3/4406
1 c.-68+5607G>A r.(?) p.(Gly545Ser) g.1720032G>A Copied from the Exome Variant Server ASMT_000087 1/12998 1/8592 0/4406
1 c.-68+5636C>T r.(=) p.(=) g.1720061C>T Copied from the Exome Variant Server ASMT_000088 40/12998 1/8592 39/4406
1 c.-68+5648G>C r.(?) p.(Lys558Asn) g.1720073G>C Copied from the Exome Variant Server ASMT_000089 1/12998 1/8592 0/4406
1 c.-68+5655C>G r.(?) p.(Pro561Ala) g.1720080C>G Copied from the Exome Variant Server ASMT_000090 1/12998 1/8592 0/4406
1 c.-68+5659C>A r.(?) p.(Ala562Asp) g.1720084C>A Copied from the Exome Variant Server ASMT_000091 1/12998 0/8592 1/4406
1 c.-68+5662G>A r.(?) p.(Cys563Tyr) g.1720087G>A Copied from the Exome Variant Server ASMT_000092 1/12998 0/8592 1/4406
1 c.-68+5675C>T r.(=) p.(=) g.1720100C>T Copied from the Exome Variant Server ASMT_000093 1/12998 1/8592 0/4406
1 c.-68+5687C>T r.(=) p.(=) g.1720112C>T Copied from the Exome Variant Server ASMT_000094 1/12998 1/8592 0/4406
1 c.-68+5689C>T r.(?) p.(Thr572Ile) g.1720114C>T Copied from the Exome Variant Server ASMT_000095 5/12998 0/8592 5/4406
1 c.-68+5692G>A r.(?) p.(Arg573Gln) g.1720117G>A Copied from the Exome Variant Server ASMT_000096 7/12998 5/8592 2/4406
1 c.-68+5715C>T r.(?) p.(Arg581Trp) g.1720140C>T Copied from the Exome Variant Server ASMT_000097 1/12998 1/8592 0/4406
1 c.-68+5733C>T r.(?) p.(Arg587Trp) g.1720158C>T Copied from the Exome Variant Server ASMT_000098 16/12998 0/8592 16/4406
1 c.-68+5735G>A r.(=) p.(=) g.1720160G>A Copied from the Exome Variant Server ASMT_000099 1/12998 1/8592 0/4406
1 c.-68+5739C>T r.(?) p.(Arg589Trp) g.1720164C>T Copied from the Exome Variant Server ASMT_000100 1/12998 1/8592 0/4406
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