All transcript variants in gene AAMP

Information The variants shown are described using the NM_001087.3 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-12C>T r.(=) p.(=) g.219134821G>A Copied from the Exome Variant Server AAMP_000095 3/13006 0/8600 3/4406
?/? c.42C>A r.(=) p.(=) g.219134768G>T Copied from the Exome Variant Server AAMP_000094 3/13006 3/8600 0/4406
?/? c.43C>T r.(?) p.(Pro15Ser) g.219134767G>A Copied from the Exome Variant Server AAMP_000093 1/13006 1/8600 0/4406
?/? c.44C>A r.(?) p.(Pro15Gln) g.219134766G>T Copied from the Exome Variant Server AAMP_000092 1/13006 1/8600 0/4406
?/? c.57A>G r.(=) p.(=) g.219134753T>C Copied from the Exome Variant Server AAMP_000091 1/13006 0/8600 1/4406
?/? c.58A>G r.(?) p.(Ser20Gly) g.219134752T>C Copied from the Exome Variant Server AAMP_000090 3/13006 0/8600 3/4406
?/? c.84C>T r.(=) p.(=) g.219134726G>A Copied from the Exome Variant Server AAMP_000089 178/13006 5/8600 173/4406
?/? c.121+9del r.(=) p.(=) g.219134680del Copied from the Exome Variant Server AAMP_000087 1/12520 0/8254 1/4266
?/? c.121+24C>A r.(=) p.(=) g.219134665G>T Copied from the Exome Variant Server AAMP_000085 2/13006 0/8600 2/4406
?/? c.121+25A>T r.(=) p.(=) g.219134664T>A Copied from the Exome Variant Server AAMP_000083 1/13006 0/8600 1/4406
?/? c.121+31C>T r.(=) p.(=) g.219134658G>A Copied from the Exome Variant Server AAMP_000081 1/13006 0/8600 1/4406
?/? c.121+32A>G r.(=) p.(=) g.219134657T>C Copied from the Exome Variant Server AAMP_000079 1/13006 1/8600 0/4406
?/? c.121+38C>G r.(=) p.(=) g.219134651G>C Copied from the Exome Variant Server AAMP_000077 1/13006 1/8600 0/4406
?/? c.158A>G r.(?) p.(Glu53Gly) g.219134221T>C Copied from the Exome Variant Server AAMP_000075 9/13006 7/8600 2/4406
?/? c.162_170del r.(?) p.(Glu57_Glu59del) g.219134209_219134217del Copied from the Exome Variant Server AAMP_000073 2/12520 1/8254 1/4266
?/? c.183C>A r.(?) p.(Asn61Lys) g.219134196G>T Copied from the Exome Variant Server AAMP_000071 1/13006 1/8600 0/4406
?/? c.237C>A r.(=) p.(=) g.219134142G>T Copied from the Exome Variant Server AAMP_000069 2/13006 1/8600 1/4406
?/? c.262G>A r.(?) p.(Ala88Thr) g.219134117C>T Copied from the Exome Variant Server AAMP_000088 78/13006 0/8600 78/4406
?/? c.263C>T r.(?) p.(Ala88Val) g.219134116G>A Copied from the Exome Variant Server AAMP_000086 66/13006 1/8600 65/4406
?/? c.275-52A>G r.(=) p.(=) g.219132388T>C Copied from the Exome Variant Server AAMP_000084 11/7272 0/4618 11/2654
?/? c.275-45G>A r.(=) p.(=) g.219132381C>T Copied from the Exome Variant Server AAMP_000082 412/13006 284/8600 128/4406
?/? c.275-29C>A r.(=) p.(=) g.219132365G>T Copied from the Exome Variant Server AAMP_000080 24/13006 0/8600 24/4406
?/? c.275-23C>T r.(=) p.(=) g.219132359G>A Copied from the Exome Variant Server AAMP_000078 1/13006 1/8600 0/4406
?/? c.291G>A r.(=) p.(=) g.219132320C>T Copied from the Exome Variant Server AAMP_000076 1/13006 0/8600 1/4406
?/? c.327C>T r.(=) p.(=) g.219132284G>A Copied from the Exome Variant Server AAMP_000074 2/13006 2/8600 0/4406
?/? c.339T>A r.(?) p.(Asp113Glu) g.219132272A>T Copied from the Exome Variant Server AAMP_000072 1/13006 1/8600 0/4406
?/? c.376C>G r.(?) p.(Leu126Val) g.219132235G>C Copied from the Exome Variant Server AAMP_000070 1/13006 1/8600 0/4406
?/? c.394+7G>A r.(=) p.(=) g.219132210C>T Copied from the Exome Variant Server AAMP_000068 2/13006 1/8600 1/4406
?/? c.394+9G>A r.(=) p.(=) g.219132208C>T Copied from the Exome Variant Server AAMP_000067 8/13006 7/8600 1/4406
?/? c.481T>A r.(?) p.(Trp161Arg) g.219131623A>T Copied from the Exome Variant Server AAMP_000066 2/13006 2/8600 0/4406
?/? c.534+9A>C r.(=) p.(=) g.219131561T>G Copied from the Exome Variant Server AAMP_000065 1/13006 0/8600 1/4406
?/? c.534+16C>T r.(=) p.(=) g.219131554G>A Copied from the Exome Variant Server AAMP_000064 1/13006 0/8600 1/4406
?/? c.534+30G>C r.(=) p.(=) g.219131540C>G Copied from the Exome Variant Server AAMP_000063 1/13006 1/8600 0/4406
?/? c.535-41G>T r.(=) p.(=) g.219131351C>A Copied from the Exome Variant Server AAMP_000062 1/13004 0/8598 1/4406
?/? c.535-39_535-38del r.(=) p.(=) g.219131348_219131349del Copied from the Exome Variant Server AAMP_000061 4/12518 0/8252 4/4266
?/? c.535-34C>T r.(=) p.(=) g.219131344G>A Copied from the Exome Variant Server AAMP_000060 1/13006 0/8600 1/4406
?/? c.554G>A r.(?) p.(Arg185Gln) g.219131291C>T Copied from the Exome Variant Server AAMP_000059 1/12990 0/8592 1/4398
?/? c.573G>A r.(=) p.(=) g.219131272C>T Copied from the Exome Variant Server AAMP_000058 1/13006 1/8600 0/4406
?/? c.575G>C r.(?) p.(Gly192Ala) g.219131270C>G Copied from the Exome Variant Server AAMP_000057 3/13006 3/8600 0/4406
?/? c.612G>A r.(=) p.(=) g.219131233C>T Copied from the Exome Variant Server AAMP_000056 6/13006 0/8600 6/4406
?/? c.679+45G>A r.(=) p.(=) g.219131121C>T Copied from the Exome Variant Server AAMP_000055 1/13006 0/8600 1/4406
?/? c.680-38G>C r.(=) p.(=) g.219130908C>G Copied from the Exome Variant Server AAMP_000054 2/13006 0/8600 2/4406
?/? c.680-35C>T r.(=) p.(=) g.219130905G>A Copied from the Exome Variant Server AAMP_000053 1/13006 0/8600 1/4406
?/? c.680-20T>A r.(=) p.(=) g.219130890A>T Copied from the Exome Variant Server AAMP_000052 7/13006 7/8600 0/4406
?/? c.680-16C>G r.(=) p.(=) g.219130886G>C Copied from the Exome Variant Server AAMP_000051 1/13006 1/8600 0/4406
?/? c.745C>T r.(?) p.(Pro249Ser) g.219130805G>A Copied from the Exome Variant Server AAMP_000050 1/13006 1/8600 0/4406
?/? c.748A>G r.(?) p.(Ile250Val) g.219130802T>C Copied from the Exome Variant Server AAMP_000049 21/13006 7/8600 14/4406
?/? c.756A>T r.(=) p.(=) g.219130794T>A Copied from the Exome Variant Server AAMP_000048 3/13006 3/8600 0/4406
?/? c.763+12G>T r.(=) p.(=) g.219130775C>A Copied from the Exome Variant Server AAMP_000047 5/13006 4/8600 1/4406
?/? c.764-51C>T r.(=) p.(=) g.219130720G>A Copied from the Exome Variant Server AAMP_000046 1/13006 0/8600 1/4406
?/? c.764-46_764-45del r.(=) p.(=) g.219130714_219130715del Copied from the Exome Variant Server AAMP_000045 4/12520 4/8254 0/4266
?/? c.764-7A>G r.(=) p.(=) g.219130676T>C Copied from the Exome Variant Server AAMP_000044 18/13006 18/8600 0/4406
?/? c.819C>T r.(=) p.(=) g.219130614G>A Copied from the Exome Variant Server AAMP_000043 1/13006 1/8600 0/4406
?/? c.859G>A r.(?) p.(Val287Ile) g.219130574C>T Copied from the Exome Variant Server AAMP_000042 1/13006 0/8600 1/4406
?/? c.871A>G r.(?) p.(Thr291Ala) g.219130562T>C Copied from the Exome Variant Server AAMP_000040 1/13006 1/8600 0/4406
?/? c.879+8G>A r.(=) p.(=) g.219130546C>T Copied from the Exome Variant Server AAMP_000038 1/13006 1/8600 0/4406
?/? c.879+19C>T r.(=) p.(=) g.219130535G>A Copied from the Exome Variant Server AAMP_000036 2/13006 2/8600 0/4406
?/? c.879+32C>T r.(=) p.(=) g.219130522G>A Copied from the Exome Variant Server AAMP_000034 1/13006 0/8600 1/4406
?/? c.879+40C>T r.(=) p.(=) g.219130514G>A Copied from the Exome Variant Server AAMP_000032 421/13006 285/8600 136/4406
?/? c.880-37G>T r.(=) p.(=) g.219130442C>A Copied from the Exome Variant Server AAMP_000030 6/13006 5/8600 1/4406
?/? c.880-23C>T r.(=) p.(=) g.219130428G>A Copied from the Exome Variant Server AAMP_000028 1/13006 1/8600 0/4406
?/? c.880-8G>C r.(=) p.(=) g.219130413C>G Copied from the Exome Variant Server AAMP_000026 3/13006 3/8600 0/4406
?/? c.880-3C>T r.spl? p.? g.219130408G>A Copied from the Exome Variant Server AAMP_000024 1/13006 1/8600 0/4406
?/? c.957G>A r.(=) p.(=) g.219130328C>T Copied from the Exome Variant Server AAMP_000022 1/13006 1/8600 0/4406
?/? c.983+52C>T r.(=) p.(=) g.219130250G>A Copied from the Exome Variant Server AAMP_000020 4/5726 3/3978 1/1748
?/? c.984-49G>A r.(=) p.(=) g.219130233C>T Copied from the Exome Variant Server AAMP_000018 351/12984 13/8584 338/4400
?/? c.984-39A>T r.(=) p.(=) g.219130223T>A Copied from the Exome Variant Server AAMP_000016 1/12986 0/8588 1/4398
?/? c.984-27G>A r.(=) p.(=) g.219130211C>T Copied from the Exome Variant Server AAMP_000041 15/12974 0/8586 15/4388
?/? c.984-15C>T r.(=) p.(=) g.219130199G>A Copied from the Exome Variant Server AAMP_000039 1/12966 1/8574 0/4392
?/? c.1027A>G r.(?) p.(Ile343Val) g.219130141T>C Copied from the Exome Variant Server AAMP_000037 1/12972 1/8580 0/4392
?/? c.1043C>T r.(?) p.(Thr348Met) g.219130125G>A Copied from the Exome Variant Server AAMP_000035 1/12952 0/8562 1/4390
?/? c.1074+4T>C r.spl? p.? g.219130090A>G Copied from the Exome Variant Server AAMP_000033 1/12916 0/8548 1/4368
?/? c.1075-29C>T r.(=) p.(=) g.219129926G>A Copied from the Exome Variant Server AAMP_000031 10/13004 7/8600 3/4404
?/? c.1075-8C>T r.(=) p.(=) g.219129905G>A Copied from the Exome Variant Server AAMP_000029 264/13004 243/8600 21/4404
?/? c.1076C>T r.(?) p.(Ser359Leu) g.219129896G>A Copied from the Exome Variant Server AAMP_000027 10/13004 10/8598 0/4406
?/? c.1083C>T r.(=) p.(=) g.219129889G>A Copied from the Exome Variant Server AAMP_000025 1/13006 0/8600 1/4406
?/? c.1144G>C r.(?) p.(Val382Leu) g.219129828C>G Copied from the Exome Variant Server AAMP_000023 1/13006 1/8600 0/4406
?/? c.1148G>A r.(?) p.(Arg383His) g.219129824C>T Copied from the Exome Variant Server AAMP_000021 1/13006 0/8600 1/4406
?/? c.1162C>T r.(?) p.(Arg388Trp) g.219129810G>A Copied from the Exome Variant Server AAMP_000019 1/13006 0/8600 1/4406
?/? c.1199C>A r.(?) p.(Thr400Lys) g.219129773G>T Copied from the Exome Variant Server AAMP_000017 1/13006 1/8600 0/4406
?/? c.1229+30T>C r.(=) p.(=) g.219129713A>G Copied from the Exome Variant Server AAMP_000015 8/13006 8/8600 0/4406
?/? c.1229+40G>C r.(=) p.(=) g.219129703C>G Copied from the Exome Variant Server AAMP_000014 1/13006 1/8600 0/4406
?/? c.1230-50G>A r.(=) p.(=) g.219129381C>T Copied from the Exome Variant Server AAMP_000013 1/13006 0/8600 1/4406
?/? c.1230-49G>C r.(=) p.(=) g.219129380C>G Copied from the Exome Variant Server AAMP_000012 1/13006 1/8600 0/4406
?/? c.1230-40G>C r.(=) p.(=) g.219129371C>G Copied from the Exome Variant Server AAMP_000011 35/13006 0/8600 35/4406
?/? c.1230-3_1230-2del r.spl? p.? g.219129333_219129334del Copied from the Exome Variant Server AAMP_000010 1/12520 1/8254 0/4266
?/? c.1253C>T r.(?) p.(Thr418Met) g.219129308G>A Copied from the Exome Variant Server AAMP_000009 1/13006 1/8600 0/4406
?/? c.1254G>A r.(=) p.(=) g.219129307C>T Copied from the Exome Variant Server AAMP_000008 8/13006 8/8600 0/4406
?/? c.1271C>T r.(?) p.(Ala424Val) g.219129290G>A Copied from the Exome Variant Server AAMP_000007 1/13006 1/8600 0/4406
?/? c.1272G>A r.(=) p.(=) g.219129289C>T Copied from the Exome Variant Server AAMP_000006 23/13006 21/8600 2/4406
?/? c.1294C>T r.(?) p.(Pro432Ser) g.219129267G>A Copied from the Exome Variant Server AAMP_000005 1/13006 1/8600 0/4406
?/? c.*13C>A r.(=) p.(=) g.219129243G>T Copied from the Exome Variant Server AAMP_000004 1/13006 1/8600 0/4406
?/? c.*40C>T r.(=) p.(=) g.219129216G>A Copied from the Exome Variant Server AAMP_000003 1/13006 1/8600 0/4406
?/? c.*51_*52insCC r.(=) p.(=) g.219129204_219129205insGG Copied from the Exome Variant Server AAMP_000002 99/12520 62/8254 37/4266
?/? c.*57_*58del r.(=) p.(=) g.219129198_219129199del Copied from the Exome Variant Server AAMP_000001 1/12520 1/8254 0/4266
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