Unique variants in gene MAP7D2

Information The variants shown are described using the NM_152780.3 transcript reference sequence.

116 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.-2C>T r.(=) p.(=) g.20134999G>A Copied from the Exome Variant Server MAP7D2_000116 193/9612 2/6028 191/3584
1 c.18C>T r.(=) p.(=) g.20134980G>A Copied from the Exome Variant Server MAP7D2_000113 4339/9940 1516/6223 2823/3717
1 c.19_21del r.(?) p.(Gly7del) g.20134977_20134979del Copied from the Exome Variant Server MAP7D2_000112 48/8347 44/5063 4/3284
1 c.35C>T r.(?) p.(Ser12Phe) g.20134963G>A Copied from the Exome Variant Server MAP7D2_000109 1/10387 0/6606 1/3781
1 c.38G>A r.(?) p.(Arg13Gln) g.20134960C>T Copied from the Exome Variant Server MAP7D2_000108 1/10423 1/6633 0/3790
1 c.41C>T r.(?) p.(Pro14Leu) g.20134957G>A Copied from the Exome Variant Server MAP7D2_000106 220/10451 1/6656 219/3795
1 c.96G>C r.(=) p.(=) g.20134902C>G Copied from the Exome Variant Server MAP7D2_000104 127/10546 98/6719 29/3827
1 c.100C>T r.(?) p.(Arg34Trp) g.20134898G>A Copied from the Exome Variant Server MAP7D2_000102 1/10546 0/6719 1/3827
1 c.130+47_130+48insA r.(=) p.(=) g.20134820_20134821insT Copied from the Exome Variant Server MAP7D2_000100 38/9815 0/6238 38/3577
1 c.130+49G>C r.(=) p.(=) g.20134819C>G Copied from the Exome Variant Server MAP7D2_000098 2/10247 2/6521 0/3726
1 c.131-460_131-459insA r.(=) p.(=) g.20083382_20083383insT Copied from the Exome Variant Server MAP7D2_000096 158/565 106/369 52/196
1 c.131-459_131-458del r.(=) p.(=) g.20083381_20083382del Copied from the Exome Variant Server MAP7D2_000094 83/1543 52/962 31/581
1 c.134T>C r.(?) p.(Met45Thr) g.20082920A>G Copied from the Exome Variant Server MAP7D2_000115 1/10563 1/6728 0/3835
1 c.167G>A r.(?) p.(Arg56Lys) g.20082887C>T Copied from the Exome Variant Server MAP7D2_000114 1/10563 1/6728 0/3835
1 c.208+46T>C r.(=) p.(=) g.20082800A>G Copied from the Exome Variant Server MAP7D2_000111 1/10563 0/6728 1/3835
1 c.247G>A r.(?) p.(Ala83Thr) g.20081657C>T Copied from the Exome Variant Server MAP7D2_000110 1/10563 0/6728 1/3835
1 c.261C>T r.(=) p.(=) g.20081643G>A Copied from the Exome Variant Server MAP7D2_000107 2/10563 2/6728 0/3835
1 c.306G>A r.(=) p.(=) g.20081598C>T Copied from the Exome Variant Server MAP7D2_000105 6/10563 0/6728 6/3835
1 c.372+15C>T r.(=) p.(=) g.20081517G>A Copied from the Exome Variant Server MAP7D2_000103 1/10563 1/6728 0/3835
1 c.372+48C>T r.(=) p.(=) g.20081484G>A Copied from the Exome Variant Server MAP7D2_000101 1/10563 1/6728 0/3835
1 c.397C>T r.(?) p.(Arg133Trp) g.20074885G>A Copied from the Exome Variant Server MAP7D2_000099 1/10563 0/6728 1/3835
1 c.431A>G r.(?) p.(Lys144Arg) g.20074851T>C Copied from the Exome Variant Server MAP7D2_000097 1/10563 0/6728 1/3835
1 c.468A>G r.(=) p.(=) g.20074814T>C Copied from the Exome Variant Server MAP7D2_000095 1/10563 0/6728 1/3835
1 c.470C>T r.(?) p.(Pro157Leu) g.20074812G>A Copied from the Exome Variant Server MAP7D2_000093 13/10563 0/6728 13/3835
1 c.471C>T r.(=) p.(=) g.20074811G>A Copied from the Exome Variant Server MAP7D2_000092 321/10563 2/6728 319/3835
1 c.472G>A r.(?) p.(Gly158Arg) g.20074810C>T Copied from the Exome Variant Server MAP7D2_000091 1/10563 0/6728 1/3835
1 c.480T>G r.(?) p.(His160Gln) g.20074802A>C Copied from the Exome Variant Server MAP7D2_000090 1/10563 1/6728 0/3835
1 c.484+45_484+46insT r.(=) p.(=) g.20074752_20074753insA Copied from the Exome Variant Server MAP7D2_000089 1/10205 1/6484 0/3721
1 c.484+961C>T r.(=) p.(=) g.20073837G>A Copied from the Exome Variant Server MAP7D2_000088 1/4523 1/3106 0/1417
1 c.485-27C>T r.(=) p.(=) g.20071133G>A Copied from the Exome Variant Server MAP7D2_000087 1/10563 0/6728 1/3835
1 c.485-16A>G r.(=) p.(=) g.20071122T>C Copied from the Exome Variant Server MAP7D2_000086 1/10563 1/6728 0/3835
1 c.485-6C>G r.(=) p.(=) g.20071112G>C Copied from the Exome Variant Server MAP7D2_000085 6/10563 6/6728 0/3835
1 c.504A>G r.(=) p.(=) g.20071087T>C Copied from the Exome Variant Server MAP7D2_000083 1/10563 1/6728 0/3835
1 c.512T>C r.(?) p.(Met171Thr) g.20071079A>G Copied from the Exome Variant Server MAP7D2_000081 3/10563 3/6728 0/3835
1 c.517T>C r.(=) p.(=) g.20071074A>G Copied from the Exome Variant Server MAP7D2_000079 1/10563 0/6728 1/3835
1 c.529A>G r.(?) p.(Thr177Ala) g.20071062T>C Copied from the Exome Variant Server MAP7D2_000077 1/10563 1/6728 0/3835
1 c.530C>T r.(?) p.(Thr177Met) g.20071061G>A Copied from the Exome Variant Server MAP7D2_000075 1/10563 0/6728 1/3835
1 c.536C>T r.(?) p.(Pro179Leu) g.20071055G>A Copied from the Exome Variant Server MAP7D2_000084 1/10563 0/6728 1/3835
1 c.545A>G r.(?) p.(Asn182Ser) g.20071046T>C Copied from the Exome Variant Server MAP7D2_000082 5003/10563 1806/6728 3197/3835
1 c.564C>T r.(=) p.(=) g.20071027G>A Copied from the Exome Variant Server MAP7D2_000080 1/10563 1/6728 0/3835
1 c.567C>T r.(=) p.(=) g.20071024G>A Copied from the Exome Variant Server MAP7D2_000078 2/10563 1/6728 1/3835
1 c.595+28C>G r.(=) p.(=) g.20070968G>C Copied from the Exome Variant Server MAP7D2_000076 20/10563 20/6728 0/3835
1 c.595+1973T>C r.(=) p.(=) g.20069023A>G Copied from the Exome Variant Server MAP7D2_000074 1/8103 1/5483 0/2620
1 c.596-37T>G r.(=) p.(=) g.20062679A>C Copied from the Exome Variant Server MAP7D2_000073 2/10563 0/6728 2/3835
1 c.602A>G r.(?) p.(His201Arg) g.20062636T>C Copied from the Exome Variant Server MAP7D2_000072 1/10563 1/6728 0/3835
1 c.665G>A r.(?) p.(Arg222Gln) g.20062573C>T Copied from the Exome Variant Server MAP7D2_000071 3/10563 1/6728 2/3835
1 c.687T>G r.(=) p.(=) g.20062551A>C Copied from the Exome Variant Server MAP7D2_000070 3/10563 0/6728 3/3835
1 c.694A>G r.(?) p.(Thr232Ala) g.20062544T>C Copied from the Exome Variant Server MAP7D2_000069 1/10563 1/6728 0/3835
1 c.707G>A r.(?) p.(Gly236Asp) g.20062531C>T Copied from the Exome Variant Server MAP7D2_000068 2/10563 0/6728 2/3835
1 c.756+33C>T r.(=) p.(=) g.20062449G>A Copied from the Exome Variant Server MAP7D2_000067 4/10563 0/6728 4/3835
1 c.756+47G>A r.(=) p.(=) g.20062435C>T Copied from the Exome Variant Server MAP7D2_000066 1/10563 1/6728 0/3835
1 c.756+49C>A r.(=) p.(=) g.20062433G>T Copied from the Exome Variant Server MAP7D2_000065 1/10563 1/6728 0/3835
1 c.757-24G>A r.(=) p.(=) g.20060771C>T Copied from the Exome Variant Server MAP7D2_000064 1/10563 0/6728 1/3835
1 c.757-22G>A r.(=) p.(=) g.20060769C>T Copied from the Exome Variant Server MAP7D2_000063 2/10563 2/6728 0/3835
1 c.762G>A r.(=) p.(=) g.20060742C>T Copied from the Exome Variant Server MAP7D2_000062 3/10563 0/6728 3/3835
1 c.811T>C r.(?) p.(Phe271Leu) g.20060693A>G Copied from the Exome Variant Server MAP7D2_000061 18/10563 2/6728 16/3835
1 c.813C>A r.(?) p.(Phe271Leu) g.20060691G>T Copied from the Exome Variant Server MAP7D2_000060 19/10563 2/6728 17/3835
1 c.857A>G r.(?) p.(Lys286Arg) g.20060647T>C Copied from the Exome Variant Server MAP7D2_000059 2/10563 2/6728 0/3835
1 c.858del r.(?) p.(Arg287Aspfs*6) g.20060646del Copied from the Exome Variant Server MAP7D2_000058 1/10205 1/6484 0/3721
1 c.864A>G r.(=) p.(=) g.20060640T>C Copied from the Exome Variant Server MAP7D2_000057 1/10563 1/6728 0/3835
1 c.884+3A>G r.spl? p.? g.20060617T>C Copied from the Exome Variant Server MAP7D2_000056 9/10563 5/6728 4/3835
1 c.884+37T>G r.(=) p.(=) g.20060583A>C Copied from the Exome Variant Server MAP7D2_000055 1/10563 1/6728 0/3835
1 c.885-9G>T r.(=) p.(=) g.20044079C>A Copied from the Exome Variant Server MAP7D2_000054 11/10563 0/6728 11/3835
1 c.887C>T r.(?) p.(Thr296Ile) g.20044068G>A Copied from the Exome Variant Server MAP7D2_000053 5/10563 0/6728 5/3835
1 c.1002G>A r.(=) p.(=) g.20043953C>T Copied from the Exome Variant Server MAP7D2_000052 2/10563 2/6728 0/3835
1 c.1062G>T r.(=) p.(=) g.20043893C>A Copied from the Exome Variant Server MAP7D2_000051 17/10563 15/6728 2/3835
1 c.1074A>C r.(?) p.(Glu358Asp) g.20043881T>G Copied from the Exome Variant Server MAP7D2_000050 3/10563 3/6728 0/3835
1 c.1088A>G r.(?) p.(His363Arg) g.20043867T>C Copied from the Exome Variant Server MAP7D2_000049 1/10563 1/6728 0/3835
1 c.1107C>T r.(=) p.(=) g.20043848G>A Copied from the Exome Variant Server MAP7D2_000048 1/10563 0/6728 1/3835
1 c.1111G>A r.(?) p.(Glu371Lys) g.20043844C>T Copied from the Exome Variant Server MAP7D2_000047 1/10563 0/6728 1/3835
1 c.1156+15C>T r.(=) p.(=) g.20043784G>A Copied from the Exome Variant Server MAP7D2_000046 1/10563 1/6728 0/3835
1 c.1156+36C>T r.(=) p.(=) g.20043763G>A Copied from the Exome Variant Server MAP7D2_000045 1/10563 1/6728 0/3835
1 c.1156+37G>A r.(=) p.(=) g.20043762C>T Copied from the Exome Variant Server MAP7D2_000044 54/10563 0/6728 54/3835
1 c.1157-45C>T r.(=) p.(=) g.20043246G>A Copied from the Exome Variant Server MAP7D2_000043 2/10563 2/6728 0/3835
1 c.1157-31T>G r.(=) p.(=) g.20043232A>C Copied from the Exome Variant Server MAP7D2_000042 6/10563 1/6728 5/3835
1 c.1157-17C>T r.(=) p.(=) g.20043218G>A Copied from the Exome Variant Server MAP7D2_000041 2/10563 2/6728 0/3835
1 c.1174G>A r.(?) p.(Ala392Thr) g.20043184C>T Copied from the Exome Variant Server MAP7D2_000040 1/10563 0/6728 1/3835
1 c.1216G>A r.(?) p.(Glu406Lys) g.20043142C>T Copied from the Exome Variant Server MAP7D2_000039 7/10563 0/6728 7/3835
1 c.1263A>G r.(=) p.(=) g.20043095T>C Copied from the Exome Variant Server MAP7D2_000038 1/10563 1/6728 0/3835
1 c.1290-4A>G r.spl? p.? g.20034447T>C Copied from the Exome Variant Server MAP7D2_000036 1/10563 1/6728 0/3835
1 c.1298G>T r.(?) p.(Arg433Ile) g.20034435C>A Copied from the Exome Variant Server MAP7D2_000034 1/10563 0/6728 1/3835
1 c.1445G>A r.(?) p.(Arg482Gln) g.20034288C>T Copied from the Exome Variant Server MAP7D2_000032 2/10555 2/6722 0/3833
1 c.1452T>C r.(=) p.(=) g.20034281A>G Copied from the Exome Variant Server MAP7D2_000030 1/10558 0/6724 1/3834
1 c.1521+8A>G r.(=) p.(=) g.20034204T>C Copied from the Exome Variant Server MAP7D2_000028 1/10559 0/6726 1/3833
1 c.1602G>A r.(=) p.(=) g.20033365C>T Copied from the Exome Variant Server MAP7D2_000026 1/10563 1/6728 0/3835
1 c.1626+24C>A r.(=) p.(=) g.20033317G>T Copied from the Exome Variant Server MAP7D2_000024 1/10563 1/6728 0/3835
1 c.1627-9_1627-8insT r.(=) p.(=) g.20031751_20031752insA Copied from the Exome Variant Server MAP7D2_000022 4/10202 3/6483 1/3719
1 c.1627-9_1627-3del r.spl? p.? g.20031746_20031752del Copied from the Exome Variant Server MAP7D2_000037 4/10201 1/6482 3/3719
1 c.1673C>T r.(?) p.(Pro558Leu) g.20031697G>A Copied from the Exome Variant Server MAP7D2_000035 1/10561 1/6726 0/3835
1 c.1683+4G>A r.spl? p.? g.20031683C>T Copied from the Exome Variant Server MAP7D2_000033 3/10561 0/6726 3/3835
1 c.1683+72A>G r.(=) p.(=) g.20031615T>C Copied from the Exome Variant Server MAP7D2_000031 4/3600 4/2391 0/1209
1 c.1684-52_1684-51insT r.(=) p.(=) g.20031301_20031302insA Copied from the Exome Variant Server MAP7D2_000029 2/10205 1/6484 1/3721
1 c.1684-47G>A r.(=) p.(=) g.20031297C>T Copied from the Exome Variant Server MAP7D2_000027 1/10563 0/6728 1/3835
1 c.1684-18C>T r.(=) p.(=) g.20031268G>A Copied from the Exome Variant Server MAP7D2_000025 1/10563 0/6728 1/3835
1 c.1710G>C r.(?) p.(Gln570His) g.20031224C>G Copied from the Exome Variant Server MAP7D2_000023 1/10563 1/6728 0/3835
1 c.1762+11C>T r.(=) p.(=) g.20031161G>A Copied from the Exome Variant Server MAP7D2_000021 1/10563 1/6728 0/3835
1 c.1762+49T>A r.(=) p.(=) g.20031123A>T Copied from the Exome Variant Server MAP7D2_000020 1/10563 1/6728 0/3835
1 c.1762+50C>T r.(=) p.(=) g.20031122G>A Copied from the Exome Variant Server MAP7D2_000019 1/10563 0/6728 1/3835
1 c.1763-47_1763-44del r.(=) p.(=) g.20030697_20030700del Copied from the Exome Variant Server MAP7D2_000018 1/10205 0/6484 1/3721
1 c.1800T>A r.(=) p.(=) g.20030616A>T Copied from the Exome Variant Server MAP7D2_000017 2/10563 0/6728 2/3835
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