Full data view for gene MAPT

Information The variants shown are described using the NM_016835.4 transcript reference sequence.

178 entries on 2 pages. Showing entries 1 - 100.
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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.-17-29G>A r.(=) p.(=) g.44039658G>A Copied from the Exome Variant Server MAPT_000001 39/13006 33/8600 6/4406 - - - - - - -
?/? c.-17-3C>T r.spl? p.? g.44039684C>T Copied from the Exome Variant Server MAPT_000002 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-13A>G r.(=) p.(=) g.44039691A>G Copied from the Exome Variant Server MAPT_000003 2129/13006 1927/8600 202/4406 - - - - - - -
?/? c.36A>G r.(=) p.(=) g.44039739A>G Copied from the Exome Variant Server MAPT_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.43G>A r.(?) p.(Ala15Thr) g.44039746G>A Copied from the Exome Variant Server MAPT_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.50C>T r.(?) p.(Thr17Met) g.44039753C>T Copied from the Exome Variant Server MAPT_000006 15/13006 0/8600 15/4406 - - - - - - -
?/? c.51G>A r.(=) p.(=) g.44039754G>A Copied from the Exome Variant Server MAPT_000007 2/13006 1/8600 1/4406 - - - - - - -
?/? c.54C>T r.(=) p.(=) g.44039757C>T Copied from the Exome Variant Server MAPT_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.89C>T r.(?) p.(Thr30Ile) g.44039792C>T Copied from the Exome Variant Server MAPT_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.109G>A r.(?) p.(Gly37Ser) g.44039812G>A Copied from the Exome Variant Server MAPT_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.117G>A r.(=) p.(=) g.44039820G>A Copied from the Exome Variant Server MAPT_000011 3/13006 2/8600 1/4406 - - - - - - -
?/? c.134-47C>T r.(=) p.(=) g.44049178C>T Copied from the Exome Variant Server MAPT_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.134-29G>A r.(=) p.(=) g.44049196G>A Copied from the Exome Variant Server MAPT_000013 2/13006 1/8600 1/4406 - - - - - - -
?/? c.134-11A>G r.(=) p.(=) g.44049214A>G Copied from the Exome Variant Server MAPT_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.176C>T r.(?) p.(Pro59Leu) g.44049267C>T Copied from the Exome Variant Server MAPT_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.177G>A r.(=) p.(=) g.44049268G>A Copied from the Exome Variant Server MAPT_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.220+18C>T r.(=) p.(=) g.44049329C>T Copied from the Exome Variant Server MAPT_000017 2155/13004 1927/8600 228/4404 - - - - - - -
?/? c.220+29T>C r.(=) p.(=) g.44049340T>C Copied from the Exome Variant Server MAPT_000018 3/13004 0/8600 3/4404 - - - - - - -
?/? c.220+44C>T r.(=) p.(=) g.44049355C>T Copied from the Exome Variant Server MAPT_000019 1/13004 1/8600 0/4404 - - - - - - -
?/? c.220+53G>A r.(=) p.(=) g.44049364G>A Copied from the Exome Variant Server MAPT_000020 1/4566 1/3182 0/1384 - - - - - - -
?/? c.221-12G>A r.(=) p.(=) g.44051739G>A Copied from the Exome Variant Server MAPT_000021 1/12992 0/8594 1/4398 - - - - - - -
?/? c.256G>A r.(?) p.(Gly86Ser) g.44051786G>A Copied from the Exome Variant Server MAPT_000022 1/13002 1/8598 0/4404 - - - - - - -
?/? c.258C>G r.(=) p.(=) g.44051788C>G Copied from the Exome Variant Server MAPT_000023 1/13002 1/8598 0/4404 - - - - - - -
?/? c.261G>A r.(=) p.(=) g.44051791G>A Copied from the Exome Variant Server MAPT_000024 2/13002 2/8598 0/4404 - - - - - - -
?/? c.271G>A r.(?) p.(Ala91Thr) g.44051801G>A Copied from the Exome Variant Server MAPT_000026 1/13000 1/8598 0/4402 - - - - - - -
?/? c.284C>T r.(?) p.(Thr95Met) g.44051814C>T Copied from the Exome Variant Server MAPT_000025 1/12998 1/8598 0/4400 - - - - - - -
?/? c.285G>A r.(=) p.(=) g.44051815G>A Copied from the Exome Variant Server MAPT_000027 2/12998 0/8598 2/4400 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.44051818G>A Copied from the Exome Variant Server MAPT_000028 1/12998 1/8598 0/4400 - - - - - - -
?/? c.307+9A>G r.(=) p.(=) g.44051846A>G Copied from the Exome Variant Server MAPT_000029 2126/12988 1905/8592 221/4396 - - - - - - -
?/? c.308-50C>T r.(=) p.(=) g.44055691C>T Copied from the Exome Variant Server MAPT_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.308-42G>A r.(=) p.(=) g.44055699G>A Copied from the Exome Variant Server MAPT_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.320G>A r.(?) p.(Gly107Asp) g.44055753G>A Copied from the Exome Variant Server MAPT_000032 6/13006 0/8600 6/4406 - - - - - - -
?/? c.323T>C r.(?) p.(Ile108Thr) g.44055756T>C Copied from the Exome Variant Server MAPT_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.349G>A r.(?) p.(Glu117Lys) g.44055782G>A Copied from the Exome Variant Server MAPT_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.353C>G r.(?) p.(Ala118Gly) g.44055786C>G Copied from the Exome Variant Server MAPT_000035 3/13006 0/8600 3/4406 - - - - - - -
?/? c.360T>C r.(=) p.(=) g.44055793T>C Copied from the Exome Variant Server MAPT_000036 5/13006 0/8600 5/4406 - - - - - - -
?/? c.373+39del r.(=) p.(=) g.44055845del Copied from the Exome Variant Server MAPT_000037 29/12518 25/8254 4/4264 - - - - - - -
?/? c.373+40G>T r.(=) p.(=) g.44055846G>T Copied from the Exome Variant Server MAPT_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.374-52G>A r.(=) p.(=) g.44060492G>A Copied from the Exome Variant Server MAPT_000039 257/5716 216/3968 41/1748 - - - - - - -
?/? c.374-41G>A r.(=) p.(=) g.44060503G>A Copied from the Exome Variant Server MAPT_000040 1/12994 1/8590 0/4404 - - - - - - -
?/? c.374-33C>T r.(=) p.(=) g.44060511C>T Copied from the Exome Variant Server MAPT_000041 1/12998 0/8592 1/4406 - - - - - - -
?/? c.374-26C>T r.(=) p.(=) g.44060518C>T Copied from the Exome Variant Server MAPT_000042 1/13002 0/8596 1/4406 - - - - - - -
?/? c.404G>T r.(?) p.(Gly135Val) g.44060574G>T Copied from the Exome Variant Server MAPT_000043 1/13004 1/8598 0/4406 - - - - - - -
?/? c.412C>T r.(?) p.(Arg138*) g.44060582C>T Copied from the Exome Variant Server MAPT_000044 4/13004 0/8598 4/4406 - - - - - - -
?/? c.436A>C r.(?) p.(Ser146Arg) g.44060606A>C Copied from the Exome Variant Server MAPT_000045 1/13002 0/8598 1/4404 - - - - - - -
?/? c.505C>T r.(?) p.(Gln169*) g.44060675C>T Copied from the Exome Variant Server MAPT_000046 1/12968 0/8578 1/4390 - - - - - - -
?/? c.534_535del r.(?) p.(Glu179Glyfs*7) g.44060704_44060705del Copied from the Exome Variant Server MAPT_000047 3/12446 0/8216 3/4230 - - - - - - -
?/? c.537G>A r.(=) p.(=) g.44060707G>A Copied from the Exome Variant Server MAPT_000048 5/12960 0/8576 5/4384 - - - - - - -
?/? c.542G>A r.(?) p.(Gly181Asp) g.44060712G>A Copied from the Exome Variant Server MAPT_000049 1/12948 1/8572 0/4376 - - - - - - -
?/? c.550G>T r.(?) p.(Ala184Ser) g.44060720G>T Copied from the Exome Variant Server MAPT_000050 1/12962 1/8582 0/4380 - - - - - - -
?/? c.552C>T r.(=) p.(=) g.44060722C>T Copied from the Exome Variant Server MAPT_000051 2/12966 0/8584 2/4382 - - - - - - -
?/? c.577C>A r.(?) p.(Leu193Ile) g.44060747C>A Copied from the Exome Variant Server MAPT_000052 2/12972 0/8586 2/4386 - - - - - - -
?/? c.605C>T r.(?) p.(Pro202Leu) g.44060775C>T Copied from the Exome Variant Server MAPT_000053 2106/12802 1886/8488 220/4314 - - - - - - -
?/? c.635C>T r.(?) p.(Pro212Leu) g.44060805C>T Copied from the Exome Variant Server MAPT_000054 1/12984 1/8592 0/4392 - - - - - - -
?/? c.637G>A r.(?) p.(Gly213Arg) g.44060807G>A Copied from the Exome Variant Server MAPT_000055 137/12986 12/8594 125/4392 - - - - - - -
?/? c.664C>A r.(?) p.(Arg222Ser) g.44060834C>A Copied from the Exome Variant Server MAPT_000056 5/13004 3/8598 2/4406 - - - - - - -
?/? c.666C>T r.(=) p.(=) g.44060836C>T Copied from the Exome Variant Server MAPT_000057 2/13004 0/8598 2/4406 - - - - - - -
?/? c.671T>G r.(?) p.(Val224Gly) g.44060841T>G Copied from the Exome Variant Server MAPT_000058 40/12994 36/8594 4/4400 - - - - - - -
?/? c.683C>G r.(?) p.(Ser228Cys) g.44060853C>G Copied from the Exome Variant Server MAPT_000059 1/12974 0/8576 1/4398 - - - - - - -
?/? c.687C>G r.(=) p.(=) g.44060857C>G Copied from the Exome Variant Server MAPT_000060 12/12950 1/8564 11/4386 - - - - - - -
?/? c.689A>G r.(?) p.(Gln230Arg) g.44060859A>G Copied from the Exome Variant Server MAPT_000061 541/12928 471/8548 70/4380 - - - - - - -
?/? c.696C>G r.(=) p.(=) g.44060866C>G Copied from the Exome Variant Server MAPT_000062 6/12912 0/8538 6/4374 - - - - - - -
?/? c.730C>T r.(?) p.(Arg244Trp) g.44060900C>T Copied from the Exome Variant Server MAPT_000063 1/12744 1/8422 0/4322 - - - - - - -
?/? c.773G>C r.(?) p.(Gly258Ala) g.44060943G>C Copied from the Exome Variant Server MAPT_000064 2/12972 0/8576 2/4396 - - - - - - -
?/? c.801C>T r.(=) p.(=) g.44060971C>T Copied from the Exome Variant Server MAPT_000065 1/13004 0/8598 1/4406 - - - - - - -
?/? c.840A>G r.(=) p.(=) g.44061010A>G Copied from the Exome Variant Server MAPT_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.845C>T r.(?) p.(Ser282Leu) g.44061015C>T Copied from the Exome Variant Server MAPT_000067 2/13006 2/8600 0/4406 - - - - - - -
?/? c.853G>A r.(?) p.(Asp285Asn) g.44061023G>A Copied from the Exome Variant Server MAPT_000068 2156/13006 1928/8600 228/4406 - - - - - - -
?/? c.855C>T r.(=) p.(=) g.44061025C>T Copied from the Exome Variant Server MAPT_000069 1241/13006 1028/8600 213/4406 - - - - - - -
?/? c.866T>C r.(?) p.(Val289Ala) g.44061036T>C Copied from the Exome Variant Server MAPT_000070 2155/13006 1928/8600 227/4406 - - - - - - -
?/? c.878A>G r.(?) p.(Lys293Arg) g.44061048A>G Copied from the Exome Variant Server MAPT_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.890C>T r.(?) p.(Ala297Val) g.44061060C>T Copied from the Exome Variant Server MAPT_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.912C>T r.(=) p.(=) g.44061082C>T Copied from the Exome Variant Server MAPT_000074 2/13006 2/8600 0/4406 - - - - - - -
?/? c.953C>T r.(?) p.(Ser318Leu) g.44061123C>T Copied from the Exome Variant Server MAPT_000076 772/13006 13/8600 759/4406 - - - - - - -
?/? c.954G>T r.(=) p.(=) g.44061124G>T Copied from the Exome Variant Server MAPT_000078 2/13006 2/8600 0/4406 - - - - - - -
?/? c.954_956del r.(?) p.(Glu320del) g.44061124_44061126del Copied from the Exome Variant Server MAPT_000073 27/12516 17/8252 10/4264 - - - - - - -
?/? c.961C>T r.(?) p.(His321Tyr) g.44061131C>T Copied from the Exome Variant Server MAPT_000075 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1019C>T r.(?) p.(Pro340Leu) g.44061189C>T Copied from the Exome Variant Server MAPT_000077 1/12770 1/8480 0/4290 - - - - - - -
?/? c.1101C>T r.(=) p.(=) g.44061271C>T Copied from the Exome Variant Server MAPT_000079 2/12278 2/8124 0/4154 - - - - - - -
?/? c.1108C>T r.(?) p.(Arg370Trp) g.44061278C>T Copied from the Exome Variant Server MAPT_000080 1921/12206 1750/8088 171/4118 - - - - - - -
?/? c.1126+21C>T r.(=) p.(=) g.44061317C>T Copied from the Exome Variant Server MAPT_000081 111/12194 10/8080 101/4114 - - - - - - -
?/? c.1126+38_1126+46del r.(=) p.(=) g.44061334_44061342del Copied from the Exome Variant Server MAPT_000082 282/11276 251/7488 31/3788 - - - - - - -
?/? c.1126+52C>T r.(=) p.(=) g.44061348C>T Copied from the Exome Variant Server MAPT_000083 3/6302 3/4006 0/2296 - - - - - - -
?/? c.1127-72T>C r.(=) p.(=) g.44064334T>C Copied from the Exome Variant Server MAPT_000084 782/4566 714/3182 68/1384 - - - - - - -
?/? c.1152C>T r.(=) p.(=) g.44064431C>T Copied from the Exome Variant Server MAPT_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1183-51C>G r.(=) p.(=) g.44067193C>G Copied from the Exome Variant Server MAPT_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1183-39_1183-36del r.(=) p.(=) g.44067205_44067208del Copied from the Exome Variant Server MAPT_000087 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1183-11T>G r.(=) p.(=) g.44067233T>G Copied from the Exome Variant Server MAPT_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1208C>T r.(?) p.(Thr403Ile) g.44067269C>T Copied from the Exome Variant Server MAPT_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1247C>T r.(?) p.(Thr416Ile) g.44067308C>T Copied from the Exome Variant Server MAPT_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1280C>T r.(?) p.(Ser427Phe) g.44067341C>T Copied from the Exome Variant Server MAPT_000091 21/13006 18/8600 3/4406 - - - - - - -
?/? c.1291G>A r.(?) p.(Val431Met) g.44067352G>A Copied from the Exome Variant Server MAPT_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1297C>T r.(?) p.(Pro433Ser) g.44067358C>T Copied from the Exome Variant Server MAPT_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1321T>C r.(?) p.(Tyr441His) g.44067382T>C Copied from the Exome Variant Server MAPT_000094 2358/13006 1707/8600 651/4406 - - - - - - -
?/? c.1332T>G r.(=) p.(=) g.44067393T>G Copied from the Exome Variant Server MAPT_000095 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1339T>C r.(?) p.(Ser447Pro) g.44067400T>C Copied from the Exome Variant Server MAPT_000096 2142/13006 1917/8600 225/4406 - - - - - - -
?/? c.1342C>T r.(?) p.(Arg448*) g.44067403C>T Copied from the Exome Variant Server MAPT_000097 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1380+10del r.(=) p.(=) g.44067451del Copied from the Exome Variant Server MAPT_000098 1/12516 1/8252 0/4264 - - - - - - -
?/? c.1381-9C>G r.(=) p.(=) g.44068817C>G Copied from the Exome Variant Server MAPT_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1383G>T r.(=) p.(=) g.44068828G>T Copied from the Exome Variant Server MAPT_000100 1/13006 1/8600 0/4406 - - - - - - -
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