Full data view for gene A2ML1

Information The variants shown are described using the NM_144670.4 transcript reference sequence.

345 entries on 4 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.-52C>T r.(=) p.(=) g.8975196C>T Copied from the Exome Variant Server A2ML1_000001 1/10300 0/7164 1/3136 - - - - - - -
?/? c.-49G>A r.(=) p.(=) g.8975199G>A Copied from the Exome Variant Server A2ML1_000002 1/12150 1/8290 0/3860 - - - - - - -
?/? c.-42T>A r.(=) p.(=) g.8975206T>A Copied from the Exome Variant Server A2ML1_000003 45/12160 0/8294 45/3866 - - - - - - -
?/? c.-16T>C r.(=) p.(=) g.8975232T>C Copied from the Exome Variant Server A2ML1_000004 1/12106 1/8274 0/3832 - - - - - - -
?/? c.9T>A r.(=) p.(=) g.8975256T>A Copied from the Exome Variant Server A2ML1_000005 27/12130 0/8276 27/3854 - - - - - - -
?/? c.26T>C r.(?) p.(Met9Thr) g.8975273T>C Copied from the Exome Variant Server A2ML1_000006 2/12096 0/8264 2/3832 - - - - - - -
?/? c.62+1G>A r.spl? p.? g.8975310G>A Copied from the Exome Variant Server A2ML1_000007 2/12076 2/8252 0/3824 - - - - - - -
?/? c.62+30T>C r.(=) p.(=) g.8975339T>C Copied from the Exome Variant Server A2ML1_000008 1/12000 1/8234 0/3766 - - - - - - -
?/? c.62+43T>C r.(=) p.(=) g.8975352T>C Copied from the Exome Variant Server A2ML1_000009 1/11990 0/8226 1/3764 - - - - - - -
?/? c.62+65del r.(=) p.(=) g.8975374del Copied from the Exome Variant Server A2ML1_000010 1/11430 1/7842 0/3588 - - - - - - -
?/? c.63-18_63-16del r.(=) p.(=) g.8975760_8975762del Copied from the Exome Variant Server A2ML1_000011 3/11554 3/7902 0/3652 - - - - - - -
?/? c.63-14T>G r.(=) p.(=) g.8975764T>G Copied from the Exome Variant Server A2ML1_000012 1/12018 1/8250 0/3768 - - - - - - -
?/? c.63-4A>G r.spl? p.? g.8975774A>G Copied from the Exome Variant Server A2ML1_000013 5/11964 5/8224 0/3740 - - - - - - -
?/? c.86C>A r.(?) p.(Ala29Asp) g.8975801C>A Copied from the Exome Variant Server A2ML1_000014 2/11922 2/8194 0/3728 - - - - - - -
?/? c.105C>T r.(=) p.(=) g.8975820C>T Copied from the Exome Variant Server A2ML1_000015 9/11932 9/8196 0/3736 - - - - - - -
?/? c.139T>C r.(?) p.(Tyr47His) g.8975854T>C Copied from the Exome Variant Server A2ML1_000016 1/11970 1/8204 0/3766 - - - - - - -
?/? c.142A>G r.(?) p.(Ser48Gly) g.8975857A>G Copied from the Exome Variant Server A2ML1_000017 1/11974 1/8204 0/3770 - - - - - - -
?/? c.158C>G r.(?) p.(Thr53Arg) g.8975873C>G Copied from the Exome Variant Server A2ML1_000018 33/12004 32/8222 1/3782 - - - - - - -
?/? c.173_174insCA r.(?) p.(Lys59Thrfs*9) g.8975888_8975889insCA Copied from the Exome Variant Server A2ML1_000019 5/11600 0/7896 5/3704 - - - - - - -
?/? c.186C>T r.(=) p.(=) g.8975901C>T Copied from the Exome Variant Server A2ML1_000020 550/12082 387/8242 163/3840 - - - - - - -
?/? c.196C>T r.(=) p.(=) g.8975911C>T Copied from the Exome Variant Server A2ML1_000021 22/12120 21/8262 1/3858 - - - - - - -
?/? c.201A>G r.(=) p.(=) g.8975916A>G Copied from the Exome Variant Server A2ML1_000022 1/12126 0/8262 1/3864 - - - - - - -
?/? c.221G>C r.(?) p.(Arg74Thr) g.8975936G>C Copied from the Exome Variant Server A2ML1_000023 5/12170 0/8286 5/3884 - - - - - - -
?/? c.246+6_246+7del r.(=) p.(=) g.8975967_8975968del Copied from the Exome Variant Server A2ML1_000024 2/11676 0/7928 2/3748 - - - - - - -
?/? c.246+17C>T r.(=) p.(=) g.8975978C>T Copied from the Exome Variant Server A2ML1_000025 1/12158 1/8276 0/3882 - - - - - - -
?/? c.246+48C>G r.(=) p.(=) g.8976009C>G Copied from the Exome Variant Server A2ML1_000026 1/12054 1/8236 0/3818 - - - - - - -
?/? c.247-28C>A r.(=) p.(=) g.8976288C>A Copied from the Exome Variant Server A2ML1_000027 1/11946 1/8214 0/3732 - - - - - - -
?/? c.269C>T r.(?) p.(Thr90Ile) g.8976338C>T Copied from the Exome Variant Server A2ML1_000028 1/11936 1/8198 0/3738 - - - - - - -
?/? c.279G>T r.(=) p.(=) g.8976348G>T Copied from the Exome Variant Server A2ML1_000029 1/11950 1/8190 0/3760 - - - - - - -
?/? c.289C>G r.(?) p.(Arg97Gly) g.8976358C>G Copied from the Exome Variant Server A2ML1_000030 10/11932 9/8180 1/3752 - - - - - - -
?/? c.357G>C r.(=) p.(=) g.8976426G>C Copied from the Exome Variant Server A2ML1_000031 4/12072 4/8232 0/3840 - - - - - - -
?/? c.360C>T r.(=) p.(=) g.8976429C>T Copied from the Exome Variant Server A2ML1_000032 1/12074 1/8236 0/3838 - - - - - - -
?/? c.375G>T r.(?) p.(Gln125His) g.8976444G>T Copied from the Exome Variant Server A2ML1_000033 2/12070 0/8238 2/3832 - - - - - - -
?/? c.409+3A>G r.spl? p.? g.8976481A>G Copied from the Exome Variant Server A2ML1_000034 1/12042 1/8232 0/3810 - - - - - - -
?/? c.409+24C>T r.(=) p.(=) g.8976502C>T Copied from the Exome Variant Server A2ML1_000035 2/12006 0/8234 2/3772 - - - - - - -
?/? c.409+25G>A r.(=) p.(=) g.8976503G>A Copied from the Exome Variant Server A2ML1_000036 1/12002 1/8230 0/3772 - - - - - - -
?/? c.410-37A>G r.(=) p.(=) g.8982286A>G Copied from the Exome Variant Server A2ML1_000038 1/12016 0/8240 1/3776 - - - - - - -
?/? c.410-25G>C r.(=) p.(=) g.8982298G>C Copied from the Exome Variant Server A2ML1_000040 2/12092 0/8262 2/3830 - - - - - - -
?/? c.418C>T r.(?) p.(Arg140Cys) g.8982331C>T Copied from the Exome Variant Server A2ML1_000042 1/12242 1/8320 0/3922 - - - - - - -
?/? c.462+3G>A r.spl? p.? g.8982378G>A Copied from the Exome Variant Server A2ML1_000037 1/12414 1/8364 0/4050 - - - - - - -
?/? c.462+9_462+11del r.(=) p.(=) g.8982384_8982386del Copied from the Exome Variant Server A2ML1_000039 4/11864 3/7998 1/3866 - - - - - - -
?/? c.462+18G>A r.(=) p.(=) g.8982393G>A Copied from the Exome Variant Server A2ML1_000041 44/12468 0/8380 44/4088 - - - - - - -
?/? c.462+26G>A r.(=) p.(=) g.8982401G>A Copied from the Exome Variant Server A2ML1_000043 1/12512 0/8396 1/4116 - - - - - - -
?/? c.462+28C>T r.(=) p.(=) g.8982403C>T Copied from the Exome Variant Server A2ML1_000044 1/12514 1/8398 0/4116 - - - - - - -
?/? c.462+29G>A r.(=) p.(=) g.8982404G>A Copied from the Exome Variant Server A2ML1_000045 49/12520 0/8402 49/4118 - - - - - - -
?/? c.462+32del r.(=) p.(=) g.8982407del Copied from the Exome Variant Server A2ML1_000046 3/12008 1/8038 2/3970 - - - - - - -
?/? c.462+33G>A r.(=) p.(=) g.8982408G>A Copied from the Exome Variant Server A2ML1_000047 1/12544 0/8402 1/4142 - - - - - - -
?/? c.463-47T>C r.(=) p.(=) g.8987211T>C Copied from the Exome Variant Server A2ML1_000048 1/11876 1/8184 0/3692 - - - - - - -
?/? c.463-24G>A r.(=) p.(=) g.8987234G>A Copied from the Exome Variant Server A2ML1_000049 1/11880 1/8194 0/3686 - - - - - - -
?/? c.463-10T>C r.(=) p.(=) g.8987248T>C Copied from the Exome Variant Server A2ML1_000050 1/11906 1/8210 0/3696 - - - - - - -
?/? c.463-9C>G r.(=) p.(=) g.8987249C>G Copied from the Exome Variant Server A2ML1_000051 317/11908 2/8210 315/3698 - - - - - - -
?/? c.483+7G>A r.(=) p.(=) g.8987285G>A Copied from the Exome Variant Server A2ML1_000052 78/12048 73/8254 5/3794 - - - - - - -
?/? c.483+24C>T r.(=) p.(=) g.8987302C>T Copied from the Exome Variant Server A2ML1_000053 1/12088 1/8252 0/3836 - - - - - - -
?/? c.484-36C>T r.(=) p.(=) g.8988067C>T Copied from the Exome Variant Server A2ML1_000054 1/12296 1/8318 0/3978 - - - - - - -
?/? c.484-32C>T r.(=) p.(=) g.8988071C>T Copied from the Exome Variant Server A2ML1_000055 20/12348 19/8342 1/4006 - - - - - - -
?/? c.484-1G>A r.spl? p.? g.8988102G>A Copied from the Exome Variant Server A2ML1_000056 2/12450 2/8388 0/4062 - - - - - - -
?/? c.513G>A r.(?) p.(Trp171*) g.8988132G>A Copied from the Exome Variant Server A2ML1_000057 1/12522 1/8414 0/4108 - - - - - - -
?/? c.540T>G r.(?) p.(Ile180Met) g.8988159T>G Copied from the Exome Variant Server A2ML1_000058 1/12570 1/8416 0/4154 - - - - - - -
?/? c.559C>G r.(?) p.(Leu187Val) g.8988178C>G Copied from the Exome Variant Server A2ML1_000059 1/12556 1/8400 0/4156 - - - - - - -
?/? c.582C>T r.(=) p.(=) g.8988201C>T Copied from the Exome Variant Server A2ML1_000060 1/12492 1/8376 0/4116 - - - - - - -
?/? c.590C>T r.(?) p.(Thr197Ile) g.8988209C>T Copied from the Exome Variant Server A2ML1_000061 112/12474 1/8374 111/4100 - - - - - - -
?/? c.619G>C r.(?) p.(Gly207Arg) g.8988238G>C Copied from the Exome Variant Server A2ML1_000062 329/12366 2/8336 327/4030 - - - - - - -
?/? c.621T>C r.(=) p.(=) g.8988240T>C Copied from the Exome Variant Server A2ML1_000063 19/12362 18/8336 1/4026 - - - - - - -
?/? c.633G>A r.(=) p.(=) g.8988252G>A Copied from the Exome Variant Server A2ML1_000064 69/12284 0/8316 69/3968 - - - - - - -
?/? c.637G>A r.(?) p.(Glu213Lys) g.8988256G>A Copied from the Exome Variant Server A2ML1_000065 1/12284 1/8318 0/3966 - - - - - - -
?/? c.643+43C>T r.(=) p.(=) g.8988305C>T Copied from the Exome Variant Server A2ML1_000066 1/12066 1/8252 0/3814 - - - - - - -
?/? c.644-16C>T r.(=) p.(=) g.8988835C>T Copied from the Exome Variant Server A2ML1_000067 1/12252 0/8310 1/3942 - - - - - - -
?/? c.692C>T r.(?) p.(Thr231Met) g.8988899C>T Copied from the Exome Variant Server A2ML1_000068 2/11998 0/8220 2/3778 - - - - - - -
?/? c.693G>A r.(=) p.(=) g.8988900G>A Copied from the Exome Variant Server A2ML1_000069 6/11994 4/8220 2/3774 - - - - - - -
?/? c.712G>A r.(?) p.(Val238Ile) g.8988919G>A Copied from the Exome Variant Server A2ML1_000070 7/11960 0/8208 7/3752 - - - - - - -
?/? c.728+13G>A r.(=) p.(=) g.8988948G>A Copied from the Exome Variant Server A2ML1_000071 3/12014 0/8234 3/3780 - - - - - - -
?/? c.728+25G>A r.(=) p.(=) g.8988960G>A Copied from the Exome Variant Server A2ML1_000072 1/12050 1/8244 0/3806 - - - - - - -
?/? c.728+29A>T r.(=) p.(=) g.8988964A>T Copied from the Exome Variant Server A2ML1_000073 1/12056 1/8246 0/3810 - - - - - - -
?/? c.748A>C r.(?) p.(Met250Leu) g.8990055A>C Copied from the Exome Variant Server A2ML1_000074 1/12822 1/8530 0/4292 - - - - - - -
?/? c.814C>T r.(?) p.(Arg272Trp) g.8990121C>T Copied from the Exome Variant Server A2ML1_000075 3/12640 3/8460 0/4180 - - - - - - -
?/? c.815G>A r.(?) p.(Arg272Gln) g.8990122G>A Copied from the Exome Variant Server A2ML1_000076 1/12620 1/8456 0/4164 - - - - - - -
?/? c.817G>A r.(?) p.(Glu273Lys) g.8990124G>A Copied from the Exome Variant Server A2ML1_000077 1/12624 1/8460 0/4164 - - - - - - -
?/? c.827C>T r.(?) p.(Pro276Leu) g.8990134C>T Copied from the Exome Variant Server A2ML1_000078 1/12570 1/8442 0/4128 - - - - - - -
?/? c.855+9A>G r.(=) p.(=) g.8990171A>G Copied from the Exome Variant Server A2ML1_000079 2/12376 2/8368 0/4008 - - - - - - -
?/? c.855+34G>A r.(=) p.(=) g.8990196G>A Copied from the Exome Variant Server A2ML1_000080 18/12212 6/8294 12/3918 - - - - - - -
?/? c.861C>A r.(?) p.(Asp287Glu) g.8990937C>A Copied from the Exome Variant Server A2ML1_000081 124/12232 118/8328 6/3904 - - - - - - -
?/? c.863A>G r.(?) p.(Lys288Arg) g.8990939A>G Copied from the Exome Variant Server A2ML1_000082 32/12234 0/8330 32/3904 - - - - - - -
?/? c.911T>C r.(?) p.(Ile304Thr) g.8990987T>C Copied from the Exome Variant Server A2ML1_000083 2/12258 1/8324 1/3934 - - - - - - -
?/? c.921G>A r.(=) p.(=) g.8990997G>A Copied from the Exome Variant Server A2ML1_000084 1/12224 0/8302 1/3922 - - - - - - -
?/? c.967A>T r.(?) p.(Thr323Ser) g.8991043A>T Copied from the Exome Variant Server A2ML1_000085 1/12098 0/8276 1/3822 - - - - - - -
?/? c.971-46G>C r.(=) p.(=) g.8991663G>C Copied from the Exome Variant Server A2ML1_000087 5/12034 0/8250 5/3784 - - - - - - -
?/? c.978G>A r.(=) p.(=) g.8991716G>A Copied from the Exome Variant Server A2ML1_000089 1/12016 1/8248 0/3768 - - - - - - -
?/? c.1050T>C r.(=) p.(=) g.8991788T>C Copied from the Exome Variant Server A2ML1_000091 17/11940 15/8208 2/3732 - - - - - - -
?/? c.1076G>A r.(?) p.(Gly359Glu) g.8991814G>A Copied from the Exome Variant Server A2ML1_000093 1/11944 0/8202 1/3742 - - - - - - -
?/? c.1080+29del r.(=) p.(=) g.8991847del Copied from the Exome Variant Server A2ML1_000086 12/11528 3/7882 9/3646 - - - - - - -
?/? c.1081-22C>T r.(=) p.(=) g.8993943C>T Copied from the Exome Variant Server A2ML1_000088 1/11926 1/8216 0/3710 - - - - - - -
?/? c.1081-2A>G r.spl? p.? g.8993963A>G Copied from the Exome Variant Server A2ML1_000090 1/11982 0/8236 1/3746 - - - - - - -
?/? c.1095C>T r.(=) p.(=) g.8993979C>T Copied from the Exome Variant Server A2ML1_000092 1/12064 1/8254 0/3810 - - - - - - -
?/? c.1101T>C r.(=) p.(=) g.8993985T>C Copied from the Exome Variant Server A2ML1_000094 313/12076 2/8260 311/3816 - - - - - - -
?/? c.1109T>C r.(?) p.(Phe370Ser) g.8993993T>C Copied from the Exome Variant Server A2ML1_000095 310/12072 2/8262 308/3810 - - - - - - -
?/? c.1175T>C r.(?) p.(Val392Ala) g.8994059T>C Copied from the Exome Variant Server A2ML1_000096 1/12078 1/8260 0/3818 - - - - - - -
?/? c.1224G>C r.(?) p.(Trp408Cys) g.8994108G>C Copied from the Exome Variant Server A2ML1_000097 1/12020 1/8222 0/3798 - - - - - - -
?/? c.1236C>T r.(=) p.(=) g.8994120C>T Copied from the Exome Variant Server A2ML1_000098 1/12010 0/8224 1/3786 - - - - - - -
?/? c.1237G>A r.(?) p.(Val413Ile) g.8994121G>A Copied from the Exome Variant Server A2ML1_000099 7/12010 7/8224 0/3786 - - - - - - -
?/? c.1238T>A r.(?) p.(Val413Asp) g.8994122T>A Copied from the Exome Variant Server A2ML1_000100 1/12006 1/8220 0/3786 - - - - - - -
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