Full data view for gene TMEM184A

Information The variants shown are described using the NM_001097620.1 transcript reference sequence.

171 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.1-27C>T r.(=) p.(=) g.1595147G>A Copied from the Exome Variant Server TMEM184A_000171 5/12638 1/8396 4/4242 - - - - - - -
?/? c.1-21G>A r.(=) p.(=) g.1595141C>T Copied from the Exome Variant Server TMEM184A_000170 1/12670 0/8414 1/4256 - - - - - - -
?/? c.13T>A r.(?) p.(Ser5Thr) g.1595108A>T Copied from the Exome Variant Server TMEM184A_000169 5/12624 0/8426 5/4198 - - - - - - -
?/? c.22C>A r.(?) p.(Leu8Met) g.1595099G>T Copied from the Exome Variant Server TMEM184A_000168 1/12594 1/8414 0/4180 - - - - - - -
?/? c.34G>A r.(?) p.(Gly12Ser) g.1595087C>T Copied from the Exome Variant Server TMEM184A_000167 1/12580 1/8416 0/4164 - - - - - - -
?/? c.36C>T r.(=) p.(=) g.1595085G>A Copied from the Exome Variant Server TMEM184A_000166 1/12568 0/8416 1/4152 - - - - - - -
?/? c.46G>C r.(?) p.(Val16Leu) g.1595075C>G Copied from the Exome Variant Server TMEM184A_000165 1/12526 1/8400 0/4126 - - - - - - -
?/? c.53C>T r.(?) p.(Ala18Val) g.1595068G>A Copied from the Exome Variant Server TMEM184A_000164 2680/12506 1905/8398 775/4108 - - - - - - -
?/? c.62C>T r.(?) p.(Pro21Leu) g.1595059G>A Copied from the Exome Variant Server TMEM184A_000163 3/12454 0/8358 3/4096 - - - - - - -
?/? c.63G>A r.(=) p.(=) g.1595058C>T Copied from the Exome Variant Server TMEM184A_000162 14/12406 0/8344 14/4062 - - - - - - -
?/? c.116G>A r.(?) p.(Gly39Glu) g.1595005C>T Copied from the Exome Variant Server TMEM184A_000161 82/12150 80/8246 2/3904 - - - - - - -
?/? c.133_134insAG r.(?) p.(Ala45Glufs*93) g.1594987_1594988insCT Copied from the Exome Variant Server TMEM184A_000160 3/11558 1/7852 2/3706 - - - - - - -
?/? c.143T>A r.(?) p.(Leu48His) g.1594978A>T Copied from the Exome Variant Server TMEM184A_000159 1/12108 0/8206 1/3902 - - - - - - -
?/? c.167G>A r.(?) p.(Arg56Gln) g.1594954C>T Copied from the Exome Variant Server TMEM184A_000158 1/12116 1/8218 0/3898 - - - - - - -
?/? c.172G>A r.(?) p.(Val58Ile) g.1594949C>T Copied from the Exome Variant Server TMEM184A_000157 12/12136 10/8226 2/3910 - - - - - - -
?/? c.182T>C r.(?) p.(Ile61Thr) g.1594939A>G Copied from the Exome Variant Server TMEM184A_000156 1/12170 1/8244 0/3926 - - - - - - -
?/? c.220-30C>T r.(=) p.(=) g.1590648G>A Copied from the Exome Variant Server TMEM184A_000155 531/12868 20/8536 511/4332 - - - - - - -
?/? c.220-29G>A r.(=) p.(=) g.1590647C>T Copied from the Exome Variant Server TMEM184A_000154 1/12890 0/8548 1/4342 - - - - - - -
?/? c.220-11C>T r.(=) p.(=) g.1590629G>A Copied from the Exome Variant Server TMEM184A_000153 46/12984 42/8588 4/4396 - - - - - - -
?/? c.220-7C>T r.(=) p.(=) g.1590625G>A Copied from the Exome Variant Server TMEM184A_000152 8/12984 8/8588 0/4396 - - - - - - -
?/? c.236G>A r.(?) p.(Arg79His) g.1590602C>T Copied from the Exome Variant Server TMEM184A_000151 1/13004 0/8600 1/4404 - - - - - - -
?/? c.245C>G r.(?) p.(Thr82Ser) g.1590593G>C Copied from the Exome Variant Server TMEM184A_000150 1/13004 0/8600 1/4404 - - - - - - -
?/? c.247G>A r.(?) p.(Val83Met) g.1590591C>T Copied from the Exome Variant Server TMEM184A_000149 68/13006 0/8600 68/4406 - - - - - - -
?/? c.274C>T r.(?) p.(Arg92Cys) g.1590564G>A Copied from the Exome Variant Server TMEM184A_000148 1/13006 1/8600 0/4406 - - - - - - -
?/? c.300C>T r.(=) p.(=) g.1590538G>A Copied from the Exome Variant Server TMEM184A_000147 2/13006 2/8600 0/4406 - - - - - - -
?/? c.301G>A r.(?) p.(Ala101Thr) g.1590537C>T Copied from the Exome Variant Server TMEM184A_000146 2/13006 0/8600 2/4406 - - - - - - -
?/? c.307G>A r.(?) p.(Asp103Asn) g.1590531C>T Copied from the Exome Variant Server TMEM184A_000145 1/13006 0/8600 1/4406 - - - - - - -
?/? c.321C>T r.(=) p.(=) g.1590517G>A Copied from the Exome Variant Server TMEM184A_000144 13/13006 11/8600 2/4406 - - - - - - -
?/? c.327C>T r.(=) p.(=) g.1590511G>A Copied from the Exome Variant Server TMEM184A_000143 1/13006 1/8600 0/4406 - - - - - - -
?/? c.333C>T r.(=) p.(=) g.1590505G>A Copied from the Exome Variant Server TMEM184A_000142 6/13006 0/8600 6/4406 - - - - - - -
?/? c.333_334insCTC r.(?) p.(Leu111dup) g.1590504_1590505insGAG Copied from the Exome Variant Server TMEM184A_000141 2/12518 2/8254 0/4264 - - - - - - -
?/? c.334G>A r.(?) p.(Gly112Arg) g.1590504C>T Copied from the Exome Variant Server TMEM184A_000140 1/13006 1/8600 0/4406 - - - - - - -
?/? c.338A>G r.(?) p.(Asp113Gly) g.1590500T>C Copied from the Exome Variant Server TMEM184A_000139 4/13006 0/8600 4/4406 - - - - - - -
?/? c.353T>A r.(?) p.(Val118Asp) g.1590485A>T Copied from the Exome Variant Server TMEM184A_000138 3/13006 2/8600 1/4406 - - - - - - -
?/? c.363C>T r.(=) p.(=) g.1590475G>A Copied from the Exome Variant Server TMEM184A_000137 1/13004 1/8600 0/4404 - - - - - - -
?/? c.366T>C r.(=) p.(=) g.1590472A>G Copied from the Exome Variant Server TMEM184A_000136 1/13002 1/8600 0/4402 - - - - - - -
?/? c.385+6C>T r.(=) p.(=) g.1590447G>A Copied from the Exome Variant Server TMEM184A_000135 1/12932 1/8574 0/4358 - - - - - - -
?/? c.385+10A>G r.(=) p.(=) g.1590443T>C Copied from the Exome Variant Server TMEM184A_000134 7380/12902 4896/8558 2484/4344 - - - - - - -
?/? c.385+15G>A r.(=) p.(=) g.1590438C>T Copied from the Exome Variant Server TMEM184A_000133 3/12890 3/8552 0/4338 - - - - - - -
?/? c.385+33G>A r.(=) p.(=) g.1590420C>T Copied from the Exome Variant Server TMEM184A_000132 1/12798 1/8506 0/4292 - - - - - - -
?/? c.385+49C>T r.(=) p.(=) g.1590404G>A Copied from the Exome Variant Server TMEM184A_000131 1/12684 1/8442 0/4242 - - - - - - -
?/? c.385+50G>A r.(=) p.(=) g.1590403C>T Copied from the Exome Variant Server TMEM184A_000130 1/12626 1/8412 0/4214 - - - - - - -
?/? c.386-48del r.(=) p.(=) g.1590079del Copied from the Exome Variant Server TMEM184A_000129 325/11738 20/7944 305/3794 - - - - - - -
?/? c.386-24G>A r.(=) p.(=) g.1590055C>T Copied from the Exome Variant Server TMEM184A_000128 1/12344 1/8342 0/4002 - - - - - - -
?/? c.386-19C>G r.(=) p.(=) g.1590050G>C Copied from the Exome Variant Server TMEM184A_000127 1/12356 1/8348 0/4008 - - - - - - -
?/? c.386-18C>A r.(=) p.(=) g.1590049G>T Copied from the Exome Variant Server TMEM184A_000126 15/12358 0/8348 15/4010 - - - - - - -
?/? c.386-17C>T r.(=) p.(=) g.1590048G>A Copied from the Exome Variant Server TMEM184A_000125 1/12352 1/8342 0/4010 - - - - - - -
?/? c.413T>C r.(?) p.(Leu138Pro) g.1590004A>G Copied from the Exome Variant Server TMEM184A_000124 1/12386 1/8346 0/4040 - - - - - - -
?/? c.436G>A r.(?) p.(Glu146Lys) g.1589981C>T Copied from the Exome Variant Server TMEM184A_000123 1/12392 1/8328 0/4064 - - - - - - -
?/? c.461G>A r.(?) p.(Arg154His) g.1589956C>T Copied from the Exome Variant Server TMEM184A_000122 1/12346 0/8320 1/4026 - - - - - - -
?/? c.462T>G r.(=) p.(=) g.1589955A>C Copied from the Exome Variant Server TMEM184A_000121 1/12344 0/8318 1/4026 - - - - - - -
?/? c.476+6C>A r.(=) p.(=) g.1589935G>T Copied from the Exome Variant Server TMEM184A_000120 13/12322 1/8326 12/3996 - - - - - - -
?/? c.476+8C>T r.(=) p.(=) g.1589933G>A Copied from the Exome Variant Server TMEM184A_000119 4/12298 1/8314 3/3984 - - - - - - -
?/? c.476+17_476+21del r.(=) p.(=) g.1589920_1589924del Copied from the Exome Variant Server TMEM184A_000118 41/11770 22/7964 19/3806 - - - - - - -
?/? c.476+31C>T r.(=) p.(=) g.1589910G>A Copied from the Exome Variant Server TMEM184A_000117 1/12248 1/8308 0/3940 - - - - - - -
?/? c.476+38C>G r.(=) p.(=) g.1589903G>C Copied from the Exome Variant Server TMEM184A_000116 1/12222 0/8296 1/3926 - - - - - - -
?/? c.476+43G>C r.(=) p.(=) g.1589898C>G Copied from the Exome Variant Server TMEM184A_000115 4/12218 0/8304 4/3914 - - - - - - -
?/? c.477-47C>T r.(=) p.(=) g.1589881G>A Copied from the Exome Variant Server TMEM184A_000114 1/12226 1/8284 0/3942 - - - - - - -
?/? c.477-44C>T r.(=) p.(=) g.1589878G>A Copied from the Exome Variant Server TMEM184A_000113 1/12246 1/8292 0/3954 - - - - - - -
?/? c.477-26C>T r.(=) p.(=) g.1589860G>A Copied from the Exome Variant Server TMEM184A_000112 8/12498 8/8404 0/4094 - - - - - - -
?/? c.477-11G>A r.(=) p.(=) g.1589845C>T Copied from the Exome Variant Server TMEM184A_000111 3/12572 3/8430 0/4142 - - - - - - -
?/? c.508C>T r.(?) p.(Arg170Trp) g.1589803G>A Copied from the Exome Variant Server TMEM184A_000110 2/12716 2/8498 0/4218 - - - - - - -
?/? c.511G>A r.(?) p.(Gly171Ser) g.1589800C>T Copied from the Exome Variant Server TMEM184A_000109 1/12704 0/8496 1/4208 - - - - - - -
?/? c.519C>A r.(=) p.(=) g.1589792G>T Copied from the Exome Variant Server TMEM184A_000108 1/12706 0/8490 1/4216 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.1589783G>A Copied from the Exome Variant Server TMEM184A_000107 36/12672 2/8476 34/4196 - - - - - - -
?/? c.547A>G r.(?) p.(Lys183Glu) g.1589764T>C Copied from the Exome Variant Server TMEM184A_000106 1/12568 0/8434 1/4134 - - - - - - -
?/? c.552+14C>T r.(=) p.(=) g.1589745G>A Copied from the Exome Variant Server TMEM184A_000105 1/12424 1/8354 0/4070 - - - - - - -
?/? c.553-28C>T r.(=) p.(=) g.1589609G>A Copied from the Exome Variant Server TMEM184A_000104 15/12142 0/8276 15/3866 - - - - - - -
?/? c.553-19C>T r.(=) p.(=) g.1589600G>A Copied from the Exome Variant Server TMEM184A_000103 1/12224 1/8312 0/3912 - - - - - - -
?/? c.553-18G>A r.(=) p.(=) g.1589599C>T Copied from the Exome Variant Server TMEM184A_000102 2/12282 2/8330 0/3952 - - - - - - -
?/? c.553-16G>T r.(=) p.(=) g.1589597C>A Copied from the Exome Variant Server TMEM184A_000101 4/12346 0/8356 4/3990 - - - - - - -
?/? c.553-9C>T r.(=) p.(=) g.1589590G>A Copied from the Exome Variant Server TMEM184A_000100 1/12478 1/8406 0/4072 - - - - - - -
?/? c.582C>T r.(=) p.(=) g.1589552G>A Copied from the Exome Variant Server TMEM184A_000098 239/12620 2/8478 237/4142 - - - - - - -
?/? c.630C>A r.(?) p.(His210Gln) g.1589504G>T Copied from the Exome Variant Server TMEM184A_000099 1/12586 1/8438 0/4148 - - - - - - -
?/? c.644+8G>A r.(=) p.(=) g.1589482C>T Copied from the Exome Variant Server TMEM184A_000097 4/12406 1/8362 3/4044 - - - - - - -
?/? c.644+12G>A r.(=) p.(=) g.1589478C>T Copied from the Exome Variant Server TMEM184A_000096 1/12386 1/8348 0/4038 - - - - - - -
?/? c.644+17G>A r.(=) p.(=) g.1589473C>T Copied from the Exome Variant Server TMEM184A_000095 4/12322 1/8320 3/4002 - - - - - - -
?/? c.645-43G>A r.(=) p.(=) g.1588367C>T Copied from the Exome Variant Server TMEM184A_000094 23/12826 0/8516 23/4310 - - - - - - -
?/? c.645-30C>T r.(=) p.(=) g.1588354G>A Copied from the Exome Variant Server TMEM184A_000093 4/12902 4/8562 0/4340 - - - - - - -
?/? c.645-12C>T r.(=) p.(=) g.1588336G>A Copied from the Exome Variant Server TMEM184A_000092 60/12956 47/8584 13/4372 - - - - - - -
?/? c.645-11G>A r.(=) p.(=) g.1588335C>T Copied from the Exome Variant Server TMEM184A_000091 1/12958 1/8586 0/4372 - - - - - - -
?/? c.650G>A r.(?) p.(Arg217His) g.1588319C>T Copied from the Exome Variant Server TMEM184A_000090 2/12980 2/8594 0/4386 - - - - - - -
?/? c.671C>T r.(?) p.(Thr224Ile) g.1588298G>A Copied from the Exome Variant Server TMEM184A_000089 1/12996 1/8598 0/4398 - - - - - - -
?/? c.687C>T r.(=) p.(=) g.1588282G>A Copied from the Exome Variant Server TMEM184A_000088 2/12996 0/8598 2/4398 - - - - - - -
?/? c.690C>T r.(=) p.(=) g.1588279G>A Copied from the Exome Variant Server TMEM184A_000087 3/12998 0/8598 3/4400 - - - - - - -
?/? c.699C>T r.(=) p.(=) g.1588270G>A Copied from the Exome Variant Server TMEM184A_000086 16/12998 13/8598 3/4400 - - - - - - -
?/? c.735C>T r.(=) p.(=) g.1588234G>A Copied from the Exome Variant Server TMEM184A_000085 1/12990 0/8596 1/4394 - - - - - - -
?/? c.787G>A r.(?) p.(Ala263Thr) g.1588182C>T Copied from the Exome Variant Server TMEM184A_000084 1/12976 1/8590 0/4386 - - - - - - -
?/? c.789C>T r.(=) p.(=) g.1588180G>A Copied from the Exome Variant Server TMEM184A_000083 1/12976 1/8590 0/4386 - - - - - - -
?/? c.790G>A r.(?) p.(Val264Ile) g.1588179C>T Copied from the Exome Variant Server TMEM184A_000082 11/12976 0/8590 11/4386 - - - - - - -
?/? c.803C>T r.(?) p.(Ser268Leu) g.1588166G>A Copied from the Exome Variant Server TMEM184A_000081 2/12926 2/8572 0/4354 - - - - - - -
?/? c.804G>A r.(=) p.(=) g.1588165C>T Copied from the Exome Variant Server TMEM184A_000080 198/12904 2/8562 196/4342 - - - - - - -
?/? c.814+34del r.(=) p.(=) g.1588121del Copied from the Exome Variant Server TMEM184A_000079 1/12130 0/8096 1/4034 - - - - - - -
?/? c.814+42G>A r.(=) p.(=) g.1588113C>T Copied from the Exome Variant Server TMEM184A_000078 1/12654 1/8466 0/4188 - - - - - - -
?/? c.814+43C>T r.(=) p.(=) g.1588112G>A Copied from the Exome Variant Server TMEM184A_000077 1/12648 0/8462 1/4186 - - - - - - -
?/? c.815-18C>T r.(=) p.(=) g.1587593G>A Copied from the Exome Variant Server TMEM184A_000076 1/11502 0/7798 1/3704 - - - - - - -
?/? c.815-8G>A r.(=) p.(=) g.1587583C>T Copied from the Exome Variant Server TMEM184A_000075 2/11982 1/8064 1/3918 - - - - - - -
?/? c.815-4G>A r.spl? p.? g.1587579C>T Copied from the Exome Variant Server TMEM184A_000074 3/12078 3/8128 0/3950 - - - - - - -
?/? c.838C>T r.(?) p.(Arg280Trp) g.1587552G>A Copied from the Exome Variant Server TMEM184A_000073 1/12570 1/8428 0/4142 - - - - - - -
?/? c.839G>A r.(?) p.(Arg280Gln) g.1587551C>T Copied from the Exome Variant Server TMEM184A_000072 11/12618 2/8450 9/4168 - - - - - - -
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