All transcript variants in gene MICALCL

Information The variants shown are described using the NM_032867.2 transcript reference sequence.

127 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     
?/? c.-20C>T r.(=) p.(=) g.12313696C>T Copied from the Exome Variant Server MICALCL_000001 1/12088 1/8248 0/3840
?/? c.19C>T r.(?) p.(Pro7Ser) g.12313734C>T Copied from the Exome Variant Server MICALCL_000002 10/12188 0/8270 10/3918
?/? c.122C>T r.(?) p.(Pro41Leu) g.12313837C>T Copied from the Exome Variant Server MICALCL_000003 200/12142 3/8266 197/3876
?/? c.123G>A r.(=) p.(=) g.12313838G>A Copied from the Exome Variant Server MICALCL_000004 2/12126 2/8264 0/3862
?/? c.129+1G>A r.spl? p.? g.12313845G>A Copied from the Exome Variant Server MICALCL_000005 3/12164 1/8274 2/3890
?/? c.129+19C>A r.(=) p.(=) g.12313863C>A Copied from the Exome Variant Server MICALCL_000006 1/12186 1/8276 0/3910
?/? c.129+43C>G r.(=) p.(=) g.12313887C>G Copied from the Exome Variant Server MICALCL_000007 11290/12224 7689/8294 3601/3930
?/? c.130-21A>G r.(=) p.(=) g.12315087A>G Copied from the Exome Variant Server MICALCL_000008 1/11840 0/8162 1/3678
?/? c.161C>T r.(?) p.(Ser54Leu) g.12315139C>T Copied from the Exome Variant Server MICALCL_000009 1/11948 1/8210 0/3738
?/? c.162G>A r.(=) p.(=) g.12315140G>A Copied from the Exome Variant Server MICALCL_000010 1/11954 0/8216 1/3738
?/? c.197G>A r.(?) p.(Arg66Gln) g.12315175G>A Copied from the Exome Variant Server MICALCL_000011 56/12068 53/8234 3/3834
?/? c.203G>A r.(?) p.(Arg68Gln) g.12315181G>A Copied from the Exome Variant Server MICALCL_000012 1/12120 0/8252 1/3868
?/? c.207C>T r.(=) p.(=) g.12315185C>T Copied from the Exome Variant Server MICALCL_000013 1/12124 0/8254 1/3870
?/? c.208G>A r.(?) p.(Val70Ile) g.12315186G>A Copied from the Exome Variant Server MICALCL_000014 5143/12122 2950/8246 2193/3876
?/? c.229G>C r.(?) p.(Glu77Gln) g.12315207G>C Copied from the Exome Variant Server MICALCL_000015 1/12202 0/8280 1/3922
?/? c.238C>G r.(?) p.(Leu80Val) g.12315216C>G Copied from the Exome Variant Server MICALCL_000016 1/12228 0/8298 1/3930
?/? c.245T>C r.(?) p.(Leu82Pro) g.12315223T>C Copied from the Exome Variant Server MICALCL_000017 5/12250 0/8302 5/3948
?/? c.278A>C r.(?) p.(Tyr93Ser) g.12315256A>C Copied from the Exome Variant Server MICALCL_000018 266/12310 176/8330 90/3980
?/? c.308T>G r.(?) p.(Leu103Arg) g.12315286T>G Copied from the Exome Variant Server MICALCL_000019 4/12272 4/8290 0/3982
?/? c.341G>T r.(?) p.(Cys114Phe) g.12315319G>T Copied from the Exome Variant Server MICALCL_000020 1/12190 0/8274 1/3916
?/? c.357C>A r.(=) p.(=) g.12315335C>A Copied from the Exome Variant Server MICALCL_000021 213/12112 147/8248 66/3864
?/? c.362T>C r.(?) p.(Leu121Pro) g.12315340T>C Copied from the Exome Variant Server MICALCL_000022 1/12072 1/8240 0/3832
?/? c.366G>A r.(=) p.(=) g.12315344G>A Copied from the Exome Variant Server MICALCL_000023 1/12088 0/8246 1/3842
?/? c.372C>G r.(?) p.(Ile124Met) g.12315350C>G Copied from the Exome Variant Server MICALCL_000024 1/12098 1/8240 0/3858
?/? c.402C>G r.(?) p.(Ile134Met) g.12315380C>G Copied from the Exome Variant Server MICALCL_000025 1/12064 1/8232 0/3832
?/? c.410A>G r.(?) p.(Lys137Arg) g.12315388A>G Copied from the Exome Variant Server MICALCL_000026 2/12086 0/8238 2/3848
?/? c.429G>C r.(=) p.(=) g.12315407G>C Copied from the Exome Variant Server MICALCL_000027 11253/12122 7661/8244 3592/3878
?/? c.439T>A r.(?) p.(Ser147Thr) g.12315417T>A Copied from the Exome Variant Server MICALCL_000028 1/12162 1/8262 0/3900
?/? c.461G>A r.(?) p.(Arg154Gln) g.12315439G>A Copied from the Exome Variant Server MICALCL_000029 1/12152 1/8256 0/3896
?/? c.532C>T r.(=) p.(=) g.12315510C>T Copied from the Exome Variant Server MICALCL_000030 20/12448 0/8380 20/4068
?/? c.544G>A r.(?) p.(Val182Ile) g.12315522G>A Copied from the Exome Variant Server MICALCL_000031 1/12466 0/8380 1/4086
?/? c.632C>T r.(?) p.(Ser211Phe) g.12315610C>T Copied from the Exome Variant Server MICALCL_000032 1/12256 0/8294 1/3962
?/? c.664C>T r.(?) p.(Arg222Cys) g.12315642C>T Copied from the Exome Variant Server MICALCL_000033 62/12130 58/8246 4/3884
?/? c.665G>A r.(?) p.(Arg222His) g.12315643G>A Copied from the Exome Variant Server MICALCL_000034 1/12114 1/8244 0/3870
?/? c.682C>T r.(?) p.(Arg228Cys) g.12315660C>T Copied from the Exome Variant Server MICALCL_000035 3/11978 3/8200 0/3778
?/? c.683G>A r.(?) p.(Arg228His) g.12315661G>A Copied from the Exome Variant Server MICALCL_000036 2/11946 0/8188 2/3758
?/? c.738C>T r.(=) p.(=) g.12315716C>T Copied from the Exome Variant Server MICALCL_000037 11068/11962 7621/8200 3447/3762
?/? c.756C>A r.(=) p.(=) g.12315734C>A Copied from the Exome Variant Server MICALCL_000038 3/12042 3/8230 0/3812
?/? c.782G>A r.(?) p.(Arg261Gln) g.12315760G>A Copied from the Exome Variant Server MICALCL_000039 2/12134 1/8268 1/3866
?/? c.786C>T r.(=) p.(=) g.12315764C>T Copied from the Exome Variant Server MICALCL_000040 58/12140 0/8270 58/3870
?/? c.787G>A r.(?) p.(Val263Met) g.12315765G>A Copied from the Exome Variant Server MICALCL_000041 2/12144 0/8272 2/3872
?/? c.811C>T r.(?) p.(Arg271Trp) g.12315789C>T Copied from the Exome Variant Server MICALCL_000042 2/12130 0/8250 2/3880
?/? c.860A>G r.(?) p.(Asn287Ser) g.12315838A>G Copied from the Exome Variant Server MICALCL_000044 128/12090 124/8218 4/3872
?/? c.870C>T r.(=) p.(=) g.12315848C>T Copied from the Exome Variant Server MICALCL_000043 4630/12126 2614/8234 2016/3892
?/? c.880G>A r.(?) p.(Ala294Thr) g.12315858G>A Copied from the Exome Variant Server MICALCL_000045 1/12150 1/8244 0/3906
?/? c.885G>A r.(?) p.(Trp295*) g.12315863G>A Copied from the Exome Variant Server MICALCL_000046 17/12174 15/8262 2/3912
?/? c.913G>A r.(?) p.(Ala305Thr) g.12315891G>A Copied from the Exome Variant Server MICALCL_000047 11294/12200 7685/8270 3609/3930
?/? c.929G>A r.(?) p.(Arg310His) g.12315907G>A Copied from the Exome Variant Server MICALCL_000048 2/12186 0/8272 2/3914
?/? c.937A>G r.(?) p.(Ser313Gly) g.12315915A>G Copied from the Exome Variant Server MICALCL_000049 4908/12180 2779/8274 2129/3906
?/? c.967G>A r.(?) p.(Gly323Arg) g.12315945G>A Copied from the Exome Variant Server MICALCL_000050 32/12192 29/8274 3/3918
?/? c.1031G>A r.(?) p.(Arg344His) g.12316009G>A Copied from the Exome Variant Server MICALCL_000051 2/12264 2/8302 0/3962
?/? c.1032C>T r.(=) p.(=) g.12316010C>T Copied from the Exome Variant Server MICALCL_000052 16/12262 15/8302 1/3960
?/? c.1051C>T r.(?) p.(Arg351Trp) g.12316029C>T Copied from the Exome Variant Server MICALCL_000053 13/12286 2/8312 11/3974
?/? c.1052G>A r.(?) p.(Arg351Gln) g.12316030G>A Copied from the Exome Variant Server MICALCL_000054 82/12284 77/8310 5/3974
?/? c.1067T>A r.(?) p.(Phe356Tyr) g.12316045T>A Copied from the Exome Variant Server MICALCL_000055 1/12300 1/8324 0/3976
?/? c.1073C>A r.(?) p.(Ala358Glu) g.12316051C>A Copied from the Exome Variant Server MICALCL_000056 1/12296 1/8326 0/3970
?/? c.1074A>C r.(=) p.(=) g.12316052A>C Copied from the Exome Variant Server MICALCL_000057 1/12304 1/8330 0/3974
?/? c.1077T>C r.(=) p.(=) g.12316055T>C Copied from the Exome Variant Server MICALCL_000058 1/12310 1/8330 0/3980
?/? c.1107T>A r.(?) p.(Asp369Glu) g.12316085T>A Copied from the Exome Variant Server MICALCL_000059 628/12218 191/8298 437/3920
?/? c.1111C>T r.(?) p.(Pro371Ser) g.12316089C>T Copied from the Exome Variant Server MICALCL_000060 1/12202 1/8292 0/3910
?/? c.1131G>A r.(=) p.(=) g.12316109G>A Copied from the Exome Variant Server MICALCL_000061 1/12098 1/8264 0/3834
?/? c.1141G>A r.(?) p.(Glu381Lys) g.12316119G>A Copied from the Exome Variant Server MICALCL_000062 17/12038 15/8240 2/3798
?/? c.1157C>G r.(?) p.(Ala386Gly) g.12316135C>G Copied from the Exome Variant Server MICALCL_000063 21/12004 0/8216 21/3788
?/? c.1166C>T r.(?) p.(Pro389Leu) g.12316144C>T Copied from the Exome Variant Server MICALCL_000064 1/11970 1/8210 0/3760
?/? c.1168C>A r.(?) p.(Pro390Thr) g.12316146C>A Copied from the Exome Variant Server MICALCL_000065 42/11960 38/8206 4/3754
?/? c.1193_1194insA r.(?) p.(Ser399Leufs*10) g.12316171_12316172insA Copied from the Exome Variant Server MICALCL_000066 5/11464 5/7870 0/3594
?/? c.1226G>A r.(?) p.(Ser409Asn) g.12316204G>A Copied from the Exome Variant Server MICALCL_000067 1/11928 1/8204 0/3724
?/? c.1233C>T r.(=) p.(=) g.12316211C>T Copied from the Exome Variant Server MICALCL_000068 16/11928 15/8208 1/3720
?/? c.1267C>G r.(?) p.(Leu423Val) g.12316245C>G Copied from the Exome Variant Server MICALCL_000069 1/12052 0/8224 1/3828
?/? c.1283A>G r.(?) p.(Lys428Arg) g.12316261A>G Copied from the Exome Variant Server MICALCL_000070 1/12106 0/8240 1/3866
?/? c.1357C>T r.(?) p.(Arg453Cys) g.12316335C>T Copied from the Exome Variant Server MICALCL_000071 1/12160 1/8232 0/3928
?/? c.1367_1378del r.(?) p.(Pro467_Pro470del) g.12316345_12316356del Copied from the Exome Variant Server MICALCL_000072 76/9540 46/6590 30/2950
?/? c.1369C>G r.(?) p.(Pro457Ala) g.12316347C>G Copied from the Exome Variant Server MICALCL_000073 1/12146 0/8216 1/3930
?/? c.1370_1378del r.(?) p.(Pro468_Pro470del) g.12316348_12316356del Copied from the Exome Variant Server MICALCL_000074 134/9540 85/6590 49/2950
?/? c.1376_1378del r.(?) p.(Pro470del) g.12316354_12316356del Copied from the Exome Variant Server MICALCL_000076 603/9540 488/6590 115/2950
?/? c.1376_1378dup r.(?) p.(Pro470dup) g.12316354_12316356dup Copied from the Exome Variant Server MICALCL_000075 1512/9540 980/6590 532/2950
?/? c.1389T>C r.(=) p.(=) g.12316367T>C Copied from the Exome Variant Server MICALCL_000077 170/11766 0/7974 170/3792
?/? c.1406_1411del r.(?) p.(Pro470_Thr471del) g.12316384_12316389del Copied from the Exome Variant Server MICALCL_000078 2449/10008 1955/6920 494/3088
?/? c.1409_1411del r.(?) p.(Thr471del) g.12316387_12316389del Copied from the Exome Variant Server MICALCL_000079 2893/9772 2322/6792 571/2980
?/? c.1411A>C r.(?) p.(Thr471Pro) g.12316389A>C Copied from the Exome Variant Server MICALCL_000080 4244/10218 3523/7068 721/3150
?/? c.1427-31A>C r.(=) p.(=) g.12341212A>C Copied from the Exome Variant Server MICALCL_000081 188/12174 134/8280 54/3894
?/? c.1427-26_1427-25insT r.(=) p.(=) g.12341217_12341218insT Copied from the Exome Variant Server MICALCL_000082 1/11680 0/7934 1/3746
?/? c.1427-14T>C r.(=) p.(=) g.12341229T>C Copied from the Exome Variant Server MICALCL_000083 1/12170 1/8282 0/3888
?/? c.1443C>T r.(=) p.(=) g.12341259C>T Copied from the Exome Variant Server MICALCL_000084 1/12104 0/8264 1/3840
?/? c.1488C>T r.(=) p.(=) g.12341304C>T Copied from the Exome Variant Server MICALCL_000085 2/12090 0/8262 2/3828
?/? c.1543-49C>T r.(=) p.(=) g.12345476C>T Copied from the Exome Variant Server MICALCL_000086 13/11728 0/8138 13/3590
?/? c.1543-28T>A r.(=) p.(=) g.12345497T>A Copied from the Exome Variant Server MICALCL_000087 2/11714 2/8126 0/3588
?/? c.1543-14A>G r.(=) p.(=) g.12345511A>G Copied from the Exome Variant Server MICALCL_000088 1/11718 1/8134 0/3584
?/? c.1635+12A>T r.(=) p.(=) g.12345629A>T Copied from the Exome Variant Server MICALCL_000090 8/11840 0/8178 8/3662
?/? c.1635+54C>T r.(=) p.(=) g.12345671C>T Copied from the Exome Variant Server MICALCL_000092 5/4566 0/3182 5/1384
?/? c.1636-12C>T r.(=) p.(=) g.12348708C>T Copied from the Exome Variant Server MICALCL_000094 1/11978 0/8000 1/3978
?/? c.1669C>T r.(?) p.(Arg557Trp) g.12348753C>T Copied from the Exome Variant Server MICALCL_000096 2/12240 2/8126 0/4114
?/? c.1712C>T r.(?) p.(Ala571Val) g.12348796C>T Copied from the Exome Variant Server MICALCL_000098 9/12392 0/8220 9/4172
?/? c.1717C>T r.(?) p.(Arg573*) g.12348801C>T Copied from the Exome Variant Server MICALCL_000089 1/12354 1/8192 0/4162
?/? c.1729+4C>T r.spl? p.? g.12348817C>T Copied from the Exome Variant Server MICALCL_000091 3/12204 0/8074 3/4130
?/? c.1729+5G>A r.spl? p.? g.12348818G>A Copied from the Exome Variant Server MICALCL_000093 25/12160 1/8038 24/4122
?/? c.1729+20C>T r.(=) p.(=) g.12348833C>T Copied from the Exome Variant Server MICALCL_000095 1/11944 1/7910 0/4034
?/? c.1729+55C>T r.(=) p.(=) g.12348868C>T Copied from the Exome Variant Server MICALCL_000097 8/4566 8/3182 0/1384
?/? c.1730-35C>T r.(=) p.(=) g.12371350C>T Copied from the Exome Variant Server MICALCL_000099 1/12128 1/8282 0/3846
?/? c.1730-33A>G r.(=) p.(=) g.12371352A>G Copied from the Exome Variant Server MICALCL_000100 1/12132 0/8280 1/3852
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