Unique variants in gene MXD3

Information The variants shown are described using the NM_001142935.1 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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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.-46G>C r.(=) p.(=) g.176738877C>G Copied from the Exome Variant Server MXD3_000094 4/12968 0/8582 4/4386
1 c.-25C>T r.(=) p.(=) g.176738856G>A Copied from the Exome Variant Server MXD3_000093 33/12990 1/8590 32/4400
1 c.-21C>G r.(=) p.(=) g.176738852G>C Copied from the Exome Variant Server MXD3_000092 1/12992 1/8590 0/4402
1 c.-20_-19insC r.(=) p.(=) g.176738850_176738851insG Copied from the Exome Variant Server MXD3_000091 23/12474 15/8230 8/4244
1 c.-17C>T r.(=) p.(=) g.176738848G>A Copied from the Exome Variant Server MXD3_000088 6/12998 6/8594 0/4404
1 c.-13A>G r.(=) p.(=) g.176738844T>C Copied from the Exome Variant Server MXD3_000086 2/13004 0/8600 2/4404
1 c.10T>G r.(?) p.(Leu4Val) g.176738822A>C Copied from the Exome Variant Server MXD3_000084 4/13006 0/8600 4/4406
1 c.25C>T r.(?) p.(Gln9*) g.176738807G>A Copied from the Exome Variant Server MXD3_000082 1/13006 1/8600 0/4406
1 c.42G>A r.(=) p.(=) g.176738790C>T Copied from the Exome Variant Server MXD3_000080 1/13006 0/8600 1/4406
1 c.60C>G r.(=) p.(=) g.176738772G>C Copied from the Exome Variant Server MXD3_000090 6/13006 0/8600 6/4406
1 c.70+40C>T r.(=) p.(=) g.176738722G>A Copied from the Exome Variant Server MXD3_000089 19/13000 0/8594 19/4406
1 c.70+44G>T r.(=) p.(=) g.176738718C>A Copied from the Exome Variant Server MXD3_000087 76/13000 0/8594 76/4406
1 c.70+54T>C r.(=) p.(=) g.176738708A>G Copied from the Exome Variant Server MXD3_000085 1/4566 0/3182 1/1384
1 c.92C>A r.(?) p.(Ser31Tyr) g.176738464G>T Copied from the Exome Variant Server MXD3_000083 4/12674 0/8356 4/4318
1 c.148del r.(?) p.(Gln50Argfs*24) g.176738408del Copied from the Exome Variant Server MXD3_000081 118/11298 71/7466 47/3832
1 c.177-70T>A r.(=) p.(=) g.176737768A>T Copied from the Exome Variant Server MXD3_000079 10/4566 9/3182 1/1384
1 c.177-57_177-56insA r.(=) p.(=) g.176737754_176737755insT Copied from the Exome Variant Server MXD3_000078 921/12514 133/8254 788/4260
1 c.177-51G>T r.(=) p.(=) g.176737749C>A Copied from the Exome Variant Server MXD3_000077 1/13006 1/8600 0/4406
1 c.177-34T>G r.(=) p.(=) g.176737732A>C Copied from the Exome Variant Server MXD3_000076 9/13006 0/8600 9/4406
1 c.177-22T>C r.(=) p.(=) g.176737720A>G Copied from the Exome Variant Server MXD3_000075 11964/13006 7661/8600 4303/4406
1 c.193C>T r.(=) p.(=) g.176737682G>A Copied from the Exome Variant Server MXD3_000074 1/13006 0/8600 1/4406
1 c.203G>A r.(?) p.(Arg68His) g.176737672C>T Copied from the Exome Variant Server MXD3_000073 2/13006 0/8600 2/4406
1 c.206+27G>A r.(=) p.(=) g.176737642C>T Copied from the Exome Variant Server MXD3_000072 12/13006 0/8600 12/4406
1 c.207-45C>T r.(=) p.(=) g.176737586G>A Copied from the Exome Variant Server MXD3_000071 1/13000 0/8596 1/4404
1 c.224G>A r.(?) p.(Arg75Gln) g.176737524C>T Copied from the Exome Variant Server MXD3_000070 12/13000 0/8598 12/4402
1 c.264C>T r.(=) p.(=) g.176737484G>A Copied from the Exome Variant Server MXD3_000069 20/13002 16/8598 4/4404
1 c.288G>A r.(=) p.(=) g.176737460C>T Copied from the Exome Variant Server MXD3_000068 2/13002 0/8598 2/4404
1 c.299G>C r.(?) p.(Arg100Pro) g.176737449C>G Copied from the Exome Variant Server MXD3_000067 2/13004 0/8600 2/4404
1 c.314A>T r.(?) p.(His105Leu) g.176737434T>A Copied from the Exome Variant Server MXD3_000066 1/13002 1/8600 0/4402
1 c.320A>T r.(?) p.(Gln107Leu) g.176737428T>A Copied from the Exome Variant Server MXD3_000065 1/13002 1/8598 0/4404
1 c.321+17C>T r.(=) p.(=) g.176737410G>A Copied from the Exome Variant Server MXD3_000064 2/12990 0/8588 2/4402
1 c.322-40C>T r.(=) p.(=) g.176735005G>A Copied from the Exome Variant Server MXD3_000063 70/11400 2/7664 68/3736
1 c.322-5C>T r.spl? p.? g.176734970G>A Copied from the Exome Variant Server MXD3_000062 2/11856 2/7946 0/3910
1 c.322-4G>A r.spl? p.? g.176734969C>T Copied from the Exome Variant Server MXD3_000061 6/11940 0/7990 6/3950
1 c.342G>T r.(?) p.(Gln114His) g.176734945C>A Copied from the Exome Variant Server MXD3_000060 30/12236 1/8136 29/4100
1 c.346del r.(?) p.(Ala116Profs*89) g.176734941del Copied from the Exome Variant Server MXD3_000059 3/11592 3/7678 0/3914
1 c.395G>A r.(?) p.(Arg132Gln) g.176734892C>T Copied from the Exome Variant Server MXD3_000058 4/11486 0/7628 4/3858
1 c.397_398insCG r.(?) p.(Gln133Profs*73) g.176734889_176734890insCG Copied from the Exome Variant Server MXD3_000057 29/10802 11/7178 18/3624
1 c.432C>G r.(=) p.(=) g.176734855G>C Copied from the Exome Variant Server MXD3_000056 2734/11676 1622/7778 1112/3898
1 c.442C>T r.(?) p.(Arg148Trp) g.176734845G>A Copied from the Exome Variant Server MXD3_000055 2/12278 1/8148 1/4130
1 c.450G>A r.(=) p.(=) g.176734837C>T Copied from the Exome Variant Server MXD3_000054 4/12772 0/8442 4/4330
1 c.472G>C r.(?) p.(Gly158Arg) g.176734815C>G Copied from the Exome Variant Server MXD3_000053 1/12992 1/8596 0/4396
1 c.476T>C r.(?) p.(Leu159Pro) g.176734811A>G Copied from the Exome Variant Server MXD3_000052 1/12994 0/8598 1/4396
1 c.487C>T r.(?) p.(Arg163Cys) g.176734800G>A Copied from the Exome Variant Server MXD3_000051 1/12996 1/8598 0/4398
1 c.505+11C>T r.(=) p.(=) g.176734771G>A Copied from the Exome Variant Server MXD3_000050 1/13000 1/8600 0/4400
1 c.505+31G>A r.(=) p.(=) g.176734751C>T Copied from the Exome Variant Server MXD3_000049 1/13002 1/8598 0/4404
1 c.505+37G>A r.(=) p.(=) g.176734745C>T Copied from the Exome Variant Server MXD3_000048 1/13004 1/8598 0/4406
1 c.505+72G>A r.(=) p.(=) g.176734710C>T Copied from the Exome Variant Server MXD3_000047 1/13004 1/8598 0/4406
1 c.505+74G>A r.(=) p.(=) g.176734708C>T Copied from the Exome Variant Server MXD3_000046 2/13004 2/8598 0/4406
1 c.505+106G>C r.(=) p.(=) g.176734676C>G Copied from the Exome Variant Server MXD3_000045 2/13004 2/8598 0/4406
1 c.505+111T>C r.(=) p.(=) g.176734671A>G Copied from the Exome Variant Server MXD3_000043 2/13004 0/8598 2/4406
1 c.505+124C>T r.(=) p.(=) g.176734658G>A Copied from the Exome Variant Server MXD3_000041 2/13004 2/8598 0/4406
1 c.505+125G>A r.(=) p.(=) g.176734657C>T Copied from the Exome Variant Server MXD3_000038 213/13004 65/8598 148/4406
1 c.505+134C>T r.(=) p.(=) g.176734648G>A Copied from the Exome Variant Server MXD3_000037 1/13004 1/8598 0/4406
1 c.505+135G>A r.(=) p.(=) g.176734647C>T Copied from the Exome Variant Server MXD3_000035 6/13004 4/8598 2/4406
1 c.505+146G>A r.(=) p.(=) g.176734636C>T Copied from the Exome Variant Server MXD3_000033 1/13000 0/8598 1/4402
1 c.505+168C>T r.(=) p.(=) g.176734614G>A Copied from the Exome Variant Server MXD3_000031 1/12994 1/8594 0/4400
1 c.505+172C>T r.(=) p.(=) g.176734610G>A Copied from the Exome Variant Server MXD3_000029 1/12996 0/8594 1/4402
1 c.505+175C>T r.(=) p.(=) g.176734607G>A Copied from the Exome Variant Server MXD3_000027 1/12994 1/8594 0/4400
1 c.505+178C>T r.(=) p.(=) g.176734604G>A Copied from the Exome Variant Server MXD3_000044 2/12996 2/8594 0/4402
1 c.505+179G>A r.(=) p.(=) g.176734603C>T Copied from the Exome Variant Server MXD3_000042 1/12990 0/8594 1/4396
1 c.505+184C>T r.(=) p.(=) g.176734598G>A Copied from the Exome Variant Server MXD3_000040 1/12992 0/8598 1/4394
1 c.505+210C>T r.(=) p.(=) g.176734572G>A Copied from the Exome Variant Server MXD3_000039 1/12948 1/8572 0/4376
1 c.505+227C>T r.(=) p.(=) g.176734555G>A Copied from the Exome Variant Server MXD3_000036 1/12854 1/8512 0/4342
1 c.505+237G>T r.(=) p.(=) g.176734545C>A Copied from the Exome Variant Server MXD3_000034 1/12728 0/8438 1/4290
1 c.505+238C>A r.(=) p.(=) g.176734544G>T Copied from the Exome Variant Server MXD3_000032 1/12730 0/8438 1/4292
1 c.523G>A r.(?) p.(Gly175Arg) g.176734179C>T Copied from the Exome Variant Server MXD3_000030 54/4566 47/3182 7/1384
1 c.546_547insC r.(?) p.(Thr183Hisfs*6) g.176734155_176734156insG Copied from the Exome Variant Server MXD3_000028 1/6802 0/4498 1/2304
1 c.552A>C r.(=) p.(=) g.176734150T>G Copied from the Exome Variant Server MXD3_000026 65/4566 0/3182 65/1384
1 c.566T>C r.(?) p.(Ile189Thr) g.176734136A>G Copied from the Exome Variant Server MXD3_000025 1/4566 1/3182 0/1384
1 c.*18G>A r.(=) p.(=) g.176734102C>T Copied from the Exome Variant Server MXD3_000024 1/4566 0/3182 1/1384
1 c.*504A>G r.(=) p.(=) g.176733616T>C Copied from the Exome Variant Server MXD3_000023 11645/12818 7549/8488 4096/4330
1 c.*556A>C r.(?) p.(Phe218Cys) g.176733564T>G Copied from the Exome Variant Server MXD3_000022 7/12528 7/8280 0/4248
1 c.*588C>T r.(=) p.(=) g.176733532G>A Copied from the Exome Variant Server MXD3_000021 4/12984 4/8584 0/4400
1 c.*597G>C r.(=) p.(=) g.176733523C>G Copied from the Exome Variant Server MXD3_000020 124/12992 2/8588 122/4404
1 c.*633C>T r.(=) p.(=) g.176733487G>A Copied from the Exome Variant Server MXD3_000019 5/13006 0/8600 5/4406
1 c.*696G>A r.(=) p.(=) g.176733424C>T Copied from the Exome Variant Server MXD3_000018 3/13006 3/8600 0/4406
1 c.*704C>T r.(=) p.(=) g.176733416G>A Copied from the Exome Variant Server MXD3_000017 2/13006 2/8600 0/4406
1 c.*746A>G r.(=) p.(=) g.176733374T>C Copied from the Exome Variant Server MXD3_000016 7/13006 0/8600 7/4406
1 c.*962A>G r.(=) p.(=) g.176733158T>C Copied from the Exome Variant Server MXD3_000015 1/13006 1/8600 0/4406
1 c.*977C>G r.(?) p.(Met159Ile) g.176733143G>C Copied from the Exome Variant Server MXD3_000014 1/13006 0/8600 1/4406
1 c.*992G>A r.(=) p.(=) g.176733128C>T Copied from the Exome Variant Server MXD3_000013 1/13006 1/8600 0/4406
1 c.*1004T>C r.(=) p.(=) g.176733116A>G Copied from the Exome Variant Server MXD3_000012 11724/13006 7618/8600 4106/4406
1 c.*1039T>C r.(=) p.(=) g.176733081A>G Copied from the Exome Variant Server MXD3_000011 1/13006 0/8600 1/4406
1 c.*1058C>T r.(=) p.(=) g.176733062G>A Copied from the Exome Variant Server MXD3_000010 1/13006 0/8600 1/4406
1 c.*1087G>A r.(=) p.(=) g.176733033C>T Copied from the Exome Variant Server MXD3_000009 1/13006 0/8600 1/4406
1 c.*1095T>C r.(=) p.(=) g.176733025A>G Copied from the Exome Variant Server MXD3_000008 1/13006 1/8600 0/4406
1 c.*1121A>C r.(=) p.(=) g.176732999T>G Copied from the Exome Variant Server MXD3_000007 1/13006 0/8600 1/4406
1 c.*1124_*1126del r.(=) p.(=) g.176732994_176732996del Copied from the Exome Variant Server MXD3_000006 5/12518 1/8254 4/4264
1 c.*1188G>A r.(?) p.(Arg127Cys) g.176732932C>T Copied from the Exome Variant Server MXD3_000005 10/13006 10/8600 0/4406
1 c.*1201G>C r.(=) p.(=) g.176732919C>G Copied from the Exome Variant Server MXD3_000004 1/13006 0/8600 1/4406
1 c.*1238T>C r.(?) p.(Glu110Gly) g.176732882A>G Copied from the Exome Variant Server MXD3_000003 1/13006 1/8600 0/4406
1 c.*1240C>T r.(=) p.(=) g.176732880G>A Copied from the Exome Variant Server MXD3_000002 1/13006 1/8600 0/4406
1 c.*1278C>T r.(=) p.(=) g.176732842G>A Copied from the Exome Variant Server MXD3_000001 1/13006 1/8600 0/4406
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