All transcript variants in gene ABCB11

Information The variants shown are described using the NM_003742.2 transcript reference sequence.

241 entries on 3 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.-27-9A>G r.(=) p.(=) g.169874671T>C Copied from the Exome Variant Server ABCB11_000241 1/11788 0/8170 1/3618
?/? c.23G>A r.(?) p.(Arg8Gln) g.169874613C>T Copied from the Exome Variant Server ABCB11_000240 2/11838 2/8172 0/3666
?/? c.61G>C r.(?) p.(Glu21Gln) g.169874575C>G Copied from the Exome Variant Server ABCB11_000239 1/11882 1/8190 0/3692
?/? c.76T>A r.(?) p.(Tyr26Asn) g.169874560A>T Copied from the Exome Variant Server ABCB11_000238 2/11938 2/8208 0/3730
?/? c.76+43del r.(=) p.(=) g.169874517del Copied from the Exome Variant Server ABCB11_000237 1/11542 1/7900 0/3642
?/? c.76+152C>T r.(=) p.(=) g.169874408G>A Copied from the Exome Variant Server ABCB11_000236 14/5734 0/3982 14/1752
?/? c.77-22C>T r.(=) p.(=) g.169873331G>A Copied from the Exome Variant Server ABCB11_000235 1/11716 1/8124 0/3592
?/? c.77-21G>A r.(=) p.(=) g.169873330C>T Copied from the Exome Variant Server ABCB11_000234 2/11714 1/8124 1/3590
?/? c.77-17del r.(=) p.(=) g.169873326del Copied from the Exome Variant Server ABCB11_000233 124/11262 3/7782 121/3480
?/? c.77-8del r.(=) p.(=) g.169873317del Copied from the Exome Variant Server ABCB11_000232 121/11260 21/7780 100/3480
?/? c.98+48A>G r.(=) p.(=) g.169873240T>C Copied from the Exome Variant Server ABCB11_000231 1/11744 0/8124 1/3620
?/? c.98+83C>T r.(=) p.(=) g.169873205G>A Copied from the Exome Variant Server ABCB11_000230 411/4558 124/3174 287/1384
?/? c.99-18T>C r.(=) p.(=) g.169870882A>G Copied from the Exome Variant Server ABCB11_000229 1532/11864 463/8176 1069/3688
?/? c.102A>G r.(=) p.(=) g.169870861T>C Copied from the Exome Variant Server ABCB11_000228 1/11898 1/8186 0/3712
?/? c.108T>C r.(=) p.(=) g.169870855A>G Copied from the Exome Variant Server ABCB11_000227 20/11908 6/8190 14/3718
?/? c.127G>A r.(?) p.(Val43Ile) g.169870836C>T Copied from the Exome Variant Server ABCB11_000226 28/11960 24/8214 4/3746
?/? c.150+12G>C r.(=) p.(=) g.169870801C>G Copied from the Exome Variant Server ABCB11_000225 1/11986 1/8228 0/3758
?/? c.150+25G>T r.(=) p.(=) g.169870788C>A Copied from the Exome Variant Server ABCB11_000224 1/11984 1/8228 0/3756
?/? c.150+48T>C r.(=) p.(=) g.169870765A>G Copied from the Exome Variant Server ABCB11_000222 1/11946 0/8212 1/3734
?/? c.151-42C>G r.(=) p.(=) g.169870062G>C Copied from the Exome Variant Server ABCB11_000220 1/11914 1/8170 0/3744
?/? c.151-29G>T r.(=) p.(=) g.169870049C>A Copied from the Exome Variant Server ABCB11_000218 1/11918 1/8180 0/3738
?/? c.151-25A>G r.(=) p.(=) g.169870045T>C Copied from the Exome Variant Server ABCB11_000216 1/11918 1/8180 0/3738
?/? c.156G>A r.(=) p.(=) g.169870015C>T Copied from the Exome Variant Server ABCB11_000214 9/11952 1/8206 8/3746
?/? c.166T>C r.(?) p.(Ser56Pro) g.169870005A>G Copied from the Exome Variant Server ABCB11_000212 1/11956 1/8208 0/3748
?/? c.167C>T r.(?) p.(Ser56Leu) g.169870004G>A Copied from the Exome Variant Server ABCB11_000210 5/11964 4/8216 1/3748
?/? c.174C>T r.(=) p.(=) g.169869997G>A Copied from the Exome Variant Server ABCB11_000208 14/11980 0/8232 14/3748
?/? c.235G>A r.(?) p.(Val79Met) g.169869936C>T Copied from the Exome Variant Server ABCB11_000206 1/12044 0/8250 1/3794
?/? c.270T>C r.(=) p.(=) g.169869901A>G Copied from the Exome Variant Server ABCB11_000204 550/12042 296/8262 254/3780
?/? c.279C>T r.(=) p.(=) g.169869892G>A Copied from the Exome Variant Server ABCB11_000202 2/12066 2/8278 0/3788
?/? c.318A>G r.(=) p.(=) g.169869853T>C Copied from the Exome Variant Server ABCB11_000223 1/12064 0/8272 1/3792
?/? c.361C>A r.(?) p.(Gln121Lys) g.169869810G>T Copied from the Exome Variant Server ABCB11_000221 1/11976 0/8240 1/3736
?/? c.367A>T r.(?) p.(Met123Leu) g.169869804T>A Copied from the Exome Variant Server ABCB11_000219 1/11968 1/8238 0/3730
?/? c.383G>A r.(?) p.(Arg128His) g.169869788C>T Copied from the Exome Variant Server ABCB11_000217 15/11916 0/8214 15/3702
?/? c.389+4G>A r.spl? p.? g.169869778C>T Copied from the Exome Variant Server ABCB11_000215 4/11900 4/8208 0/3692
?/? c.389+6T>C r.(=) p.(=) g.169869776A>G Copied from the Exome Variant Server ABCB11_000213 1/11894 1/8204 0/3690
?/? c.389+8G>A r.(=) p.(=) g.169869774C>T Copied from the Exome Variant Server ABCB11_000211 313/11880 177/8196 136/3684
?/? c.390-25G>A r.(=) p.(=) g.169853257C>T Copied from the Exome Variant Server ABCB11_000209 1/11896 1/8192 0/3704
?/? c.402C>T r.(=) p.(=) g.169853220G>A Copied from the Exome Variant Server ABCB11_000207 593/11962 3/8214 590/3748
?/? c.408C>T r.(=) p.(=) g.169853214G>A Copied from the Exome Variant Server ABCB11_000205 9/11956 1/8214 8/3742
?/? c.428G>A r.(?) p.(Ser143Asn) g.169853194C>T Copied from the Exome Variant Server ABCB11_000203 1/11946 0/8214 1/3732
?/? c.477A>G r.(=) p.(=) g.169853145T>C Copied from the Exome Variant Server ABCB11_000201 1/11908 0/8190 1/3718
?/? c.477+16G>A r.(=) p.(=) g.169853129C>T Copied from the Exome Variant Server ABCB11_000200 586/11886 8/8168 578/3718
?/? c.477+23T>G r.(=) p.(=) g.169853122A>C Copied from the Exome Variant Server ABCB11_000199 1/11878 1/8168 0/3710
?/? c.477+27A>C r.(=) p.(=) g.169853118T>G Copied from the Exome Variant Server ABCB11_000198 4/11872 0/8164 4/3708
?/? c.477+48G>A r.(=) p.(=) g.169853097C>T Copied from the Exome Variant Server ABCB11_000197 1/11888 1/8154 0/3734
?/? c.478-34T>C r.(=) p.(=) g.169852026A>G Copied from the Exome Variant Server ABCB11_000195 8/11836 8/8182 0/3654
?/? c.478-32G>A r.(=) p.(=) g.169852024C>T Copied from the Exome Variant Server ABCB11_000193 6/11840 0/8184 6/3656
?/? c.478-1G>C r.spl? p.? g.169851993C>G Copied from the Exome Variant Server ABCB11_000191 1/11868 0/8192 1/3676
?/? c.506G>A r.(?) p.(Arg169His) g.169851964C>T Copied from the Exome Variant Server ABCB11_000189 5/11864 0/8192 5/3672
?/? c.516G>A r.(=) p.(=) g.169851954C>T Copied from the Exome Variant Server ABCB11_000187 1/11850 0/8186 1/3664
?/? c.555G>A r.(?) p.(Met185Ile) g.169851915C>T Copied from the Exome Variant Server ABCB11_000185 1/11824 0/8162 1/3662
?/? c.585G>C r.(=) p.(=) g.169851885C>G Copied from the Exome Variant Server ABCB11_000183 4/11810 0/8156 4/3654
?/? c.611+2T>C r.spl? p.? g.169851857A>G Copied from the Exome Variant Server ABCB11_000181 1/11792 0/8150 1/3642
?/? c.611+11G>A r.(=) p.(=) g.169851848C>T Copied from the Exome Variant Server ABCB11_000179 1/11776 0/8144 1/3632
?/? c.611+29del r.(=) p.(=) g.169851830del Copied from the Exome Variant Server ABCB11_000196 1/11300 0/7796 1/3504
?/? c.612-41T>C r.(=) p.(=) g.169850433A>G Copied from the Exome Variant Server ABCB11_000194 3/11872 3/8166 0/3706
?/? c.616A>G r.(?) p.(Ile206Val) g.169850388T>C Copied from the Exome Variant Server ABCB11_000192 32/11878 0/8178 32/3700
?/? c.667C>T r.(?) p.(Arg223Cys) g.169850337G>A Copied from the Exome Variant Server ABCB11_000190 1/11998 0/8212 1/3786
?/? c.675C>G r.(=) p.(=) g.169850329G>C Copied from the Exome Variant Server ABCB11_000188 1/12012 1/8206 0/3806
?/? c.733A>G r.(?) p.(Ile245Val) g.169850271T>C Copied from the Exome Variant Server ABCB11_000186 1/11998 1/8232 0/3766
?/? c.783+31G>C r.(=) p.(=) g.169850190C>G Copied from the Exome Variant Server ABCB11_000184 1/12028 1/8222 0/3806
?/? c.783+40T>C r.(=) p.(=) g.169850181A>G Copied from the Exome Variant Server ABCB11_000182 1/12022 1/8224 0/3798
?/? c.784-36G>T r.(=) p.(=) g.169847471C>A Copied from the Exome Variant Server ABCB11_000180 2/11900 2/8186 0/3714
?/? c.802G>T r.(?) p.(Asp268Tyr) g.169847417C>A Copied from the Exome Variant Server ABCB11_000178 1/11968 1/8224 0/3744
?/? c.807T>C r.(=) p.(=) g.169847412A>G Copied from the Exome Variant Server ABCB11_000177 21/11982 6/8228 15/3754
?/? c.810G>A r.(=) p.(=) g.169847409C>T Copied from the Exome Variant Server ABCB11_000176 1/11982 1/8228 0/3754
?/? c.851T>C r.(?) p.(Val284Ala) g.169847368A>G Copied from the Exome Variant Server ABCB11_000175 2/12072 2/8244 0/3828
?/? c.862A>G r.(?) p.(Met288Val) g.169847357T>C Copied from the Exome Variant Server ABCB11_000174 1/12038 1/8236 0/3802
?/? c.908+40A>G r.(=) p.(=) g.169847271T>C Copied from the Exome Variant Server ABCB11_000173 1/12024 1/8230 0/3794
?/? c.909-31C>T r.(=) p.(=) g.169842825G>A Copied from the Exome Variant Server ABCB11_000172 383/11880 182/8186 201/3694
?/? c.909-24G>A r.(=) p.(=) g.169842818C>T Copied from the Exome Variant Server ABCB11_000171 4/11882 4/8194 0/3688
?/? c.909-17G>A r.(=) p.(=) g.169842811C>T Copied from the Exome Variant Server ABCB11_000170 1147/11884 149/8194 998/3690
?/? c.909-15A>G r.(=) p.(=) g.169842809T>C Copied from the Exome Variant Server ABCB11_000169 8789/11884 5686/8190 3103/3694
?/? c.930C>T r.(=) p.(=) g.169842773G>A Copied from the Exome Variant Server ABCB11_000168 4/11928 1/8192 3/3736
?/? c.931G>A r.(?) p.(Ala311Thr) g.169842772C>T Copied from the Exome Variant Server ABCB11_000167 1/11936 1/8192 0/3744
?/? c.937C>A r.(?) p.(Arg313Ser) g.169842766G>T Copied from the Exome Variant Server ABCB11_000166 1/11956 1/8202 0/3754
?/? c.938G>A r.(?) p.(Arg313His) g.169842765C>T Copied from the Exome Variant Server ABCB11_000165 1/11978 1/8214 0/3764
?/? c.950G>C r.(?) p.(Arg317Thr) g.169842753C>G Copied from the Exome Variant Server ABCB11_000164 1/11992 1/8232 0/3760
?/? c.952A>G r.(?) p.(Lys318Glu) g.169842751T>C Copied from the Exome Variant Server ABCB11_000163 1/11990 0/8230 1/3760
?/? c.957A>G r.(=) p.(=) g.169842746T>C Copied from the Exome Variant Server ABCB11_000162 1348/12020 189/8240 1159/3780
?/? c.1012G>T r.(?) p.(Ala338Ser) g.169842691C>A Copied from the Exome Variant Server ABCB11_000161 1/12120 1/8284 0/3836
?/? c.1013C>T r.(?) p.(Ala338Val) g.169842690G>A Copied from the Exome Variant Server ABCB11_000160 1/12124 1/8286 0/3838
?/? c.1055G>A r.(?) p.(Gly352Glu) g.169842648C>T Copied from the Exome Variant Server ABCB11_000159 1/12094 0/8270 1/3824
?/? c.1062T>C r.(=) p.(=) g.169842641A>G Copied from the Exome Variant Server ABCB11_000158 1/12072 1/8258 0/3814
?/? c.1083+18A>T r.(=) p.(=) g.169842602T>A Copied from the Exome Variant Server ABCB11_000157 257/11920 2/8208 255/3712
?/? c.1083+42G>A r.(=) p.(=) g.169842578C>T Copied from the Exome Variant Server ABCB11_000156 7/11862 7/8192 0/3670
?/? c.1084-25A>T r.(=) p.(=) g.169836514T>A Copied from the Exome Variant Server ABCB11_000155 2/11840 0/8170 2/3670
?/? c.1084-13_1084-12del r.(=) p.(=) g.169836501_169836502del Copied from the Exome Variant Server ABCB11_000154 4/11380 4/7836 0/3544
?/? c.1092C>T r.(=) p.(=) g.169836481G>A Copied from the Exome Variant Server ABCB11_000153 1/11898 1/8188 0/3710
?/? c.1113A>G r.(=) p.(=) g.169836460T>C Copied from the Exome Variant Server ABCB11_000152 1/11924 1/8196 0/3728
?/? c.1160G>A r.(?) p.(Arg387His) g.169836413C>T Copied from the Exome Variant Server ABCB11_000151 1/11980 0/8232 1/3748
?/? c.1177A>G r.(?) p.(Ile393Val) g.169836396T>C Copied from the Exome Variant Server ABCB11_000150 1/11948 1/8208 0/3740
?/? c.1185G>A r.(=) p.(=) g.169836388C>T Copied from the Exome Variant Server ABCB11_000149 217/11948 1/8208 216/3740
?/? c.1197+25C>T r.(=) p.(=) g.169836351G>A Copied from the Exome Variant Server ABCB11_000148 1/11888 0/8178 1/3710
?/? c.1197+31A>G r.(=) p.(=) g.169836345T>C Copied from the Exome Variant Server ABCB11_000147 1/11868 1/8172 0/3696
?/? c.1209T>A r.(=) p.(=) g.169833186A>T Copied from the Exome Variant Server ABCB11_000145 1/12000 1/8214 0/3786
?/? c.1244G>A r.(?) p.(Arg415Gln) g.169833151C>T Copied from the Exome Variant Server ABCB11_000143 1/12044 1/8220 0/3824
?/? c.1254T>C r.(=) p.(=) g.169833141A>G Copied from the Exome Variant Server ABCB11_000141 5/12068 0/8246 5/3822
?/? c.1268A>G r.(?) p.(His423Arg) g.169833127T>C Copied from the Exome Variant Server ABCB11_000139 1/12084 1/8258 0/3826
?/? c.1271A>C r.(?) p.(Asn424Thr) g.169833124T>G Copied from the Exome Variant Server ABCB11_000137 1/12084 1/8254 0/3830
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