Full data view for gene ABCC5

Information The variants shown are described using the NM_005688.2 transcript reference sequence.

242 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-45G>A r.(=) p.(=) g.183732225C>T Copied from the Exome Variant Server ABCC5_000242 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-34A>G r.(=) p.(=) g.183732214T>C Copied from the Exome Variant Server ABCC5_000241 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-29G>A r.(=) p.(=) g.183732209C>T Copied from the Exome Variant Server ABCC5_000240 120/13006 17/8600 103/4406 - - - - - - -
?/? c.24A>C r.(?) p.(Lys8Asn) g.183732157T>G Copied from the Exome Variant Server ABCC5_000239 1/13006 0/8600 1/4406 - - - - - - -
?/? c.33C>T r.(=) p.(=) g.183732148G>A Copied from the Exome Variant Server ABCC5_000238 5/13006 0/8600 5/4406 - - - - - - -
?/? c.51T>C r.(=) p.(=) g.183732130A>G Copied from the Exome Variant Server ABCC5_000237 1/13006 1/8600 0/4406 - - - - - - -
?/? c.97C>T r.(?) p.(Arg33Cys) g.183732084G>A Copied from the Exome Variant Server ABCC5_000236 3/13006 0/8600 3/4406 - - - - - - -
?/? c.113T>C r.(?) p.(Phe38Ser) g.183732068A>G Copied from the Exome Variant Server ABCC5_000235 2/13006 2/8600 0/4406 - - - - - - -
?/? c.115A>G r.(?) p.(Arg39Gly) g.183732066T>C Copied from the Exome Variant Server ABCC5_000234 1/13006 1/8600 0/4406 - - - - - - -
?/? c.125G>A r.(?) p.(Arg42Gln) g.183732056C>T Copied from the Exome Variant Server ABCC5_000233 2/13006 2/8600 0/4406 - - - - - - -
?/? c.128C>T r.(?) p.(Pro43Leu) g.183732053G>A Copied from the Exome Variant Server ABCC5_000232 1/13006 0/8600 1/4406 - - - - - - -
?/? c.129+30C>T r.(=) p.(=) g.183732022G>A Copied from the Exome Variant Server ABCC5_000231 1/13006 1/8600 0/4406 - - - - - - -
?/? c.130-50C>T r.(=) p.(=) g.183707221G>A Copied from the Exome Variant Server ABCC5_000230 1/13006 1/8600 0/4406 - - - - - - -
?/? c.130-31C>T r.(=) p.(=) g.183707202G>A Copied from the Exome Variant Server ABCC5_000229 1/13006 1/8600 0/4406 - - - - - - -
?/? c.130-15T>C r.(=) p.(=) g.183707186A>G Copied from the Exome Variant Server ABCC5_000228 1/13006 1/8600 0/4406 - - - - - - -
?/? c.163C>T r.(?) p.(Arg55*) g.183707138G>A Copied from the Exome Variant Server ABCC5_000227 1/13006 0/8600 1/4406 - - - - - - -
?/? c.200C>T r.(?) p.(Ser67Phe) g.183707101G>A Copied from the Exome Variant Server ABCC5_000226 1/13006 1/8600 0/4406 - - - - - - -
?/? c.287+10C>T r.(=) p.(=) g.183707004G>A Copied from the Exome Variant Server ABCC5_000225 4/13006 3/8600 1/4406 - - - - - - -
?/? c.287+11G>A r.(=) p.(=) g.183707003C>T Copied from the Exome Variant Server ABCC5_000224 1/13006 0/8600 1/4406 - - - - - - -
?/? c.287+20G>T r.(=) p.(=) g.183706994C>A Copied from the Exome Variant Server ABCC5_000223 1/13006 1/8600 0/4406 - - - - - - -
?/? c.288-48C>G r.(=) p.(=) g.183706563G>C Copied from the Exome Variant Server ABCC5_000222 2/13006 2/8600 0/4406 - - - - - - -
?/? c.288-38G>A r.(=) p.(=) g.183706553C>T Copied from the Exome Variant Server ABCC5_000221 1/13006 0/8600 1/4406 - - - - - - -
?/? c.288-37T>C r.(=) p.(=) g.183706552A>G Copied from the Exome Variant Server ABCC5_000220 1/13006 1/8600 0/4406 - - - - - - -
?/? c.371A>G r.(?) p.(Lys124Arg) g.183706432T>C Copied from the Exome Variant Server ABCC5_000219 1/13006 0/8600 1/4406 - - - - - - -
?/? c.378G>A r.(=) p.(=) g.183706425C>T Copied from the Exome Variant Server ABCC5_000218 1/13006 1/8600 0/4406 - - - - - - -
?/? c.429C>A r.(?) p.(Asp143Glu) g.183706374G>T Copied from the Exome Variant Server ABCC5_000217 1/13006 1/8600 0/4406 - - - - - - -
?/? c.435C>T r.(=) p.(=) g.183706368G>A Copied from the Exome Variant Server ABCC5_000216 26/13006 21/8600 5/4406 - - - - - - -
?/? c.439A>G r.(?) p.(Arg147Gly) g.183706364T>C Copied from the Exome Variant Server ABCC5_000215 2/13006 0/8600 2/4406 - - - - - - -
?/? c.443+14G>A r.(=) p.(=) g.183706346C>T Copied from the Exome Variant Server ABCC5_000214 1/13006 1/8600 0/4406 - - - - - - -
?/? c.443+21C>T r.(=) p.(=) g.183706339G>A Copied from the Exome Variant Server ABCC5_000213 1/13006 1/8600 0/4406 - - - - - - -
?/? c.443+31C>A r.(=) p.(=) g.183706329G>T Copied from the Exome Variant Server ABCC5_000212 7/13006 7/8600 0/4406 - - - - - - -
?/? c.443+38G>A r.(=) p.(=) g.183706322C>T Copied from the Exome Variant Server ABCC5_000210 2/13006 1/8600 1/4406 - - - - - - -
?/? c.444-48G>T r.(=) p.(=) g.183705753C>A Copied from the Exome Variant Server ABCC5_000208 7/13006 7/8600 0/4406 - - - - - - -
?/? c.444-37G>A r.(=) p.(=) g.183705742C>T Copied from the Exome Variant Server ABCC5_000206 1/13006 1/8600 0/4406 - - - - - - -
?/? c.444-17C>T r.(=) p.(=) g.183705722G>A Copied from the Exome Variant Server ABCC5_000204 1/13006 1/8600 0/4406 - - - - - - -
?/? c.449A>G r.(?) p.(Glu150Gly) g.183705700T>C Copied from the Exome Variant Server ABCC5_000202 1/13006 1/8600 0/4406 - - - - - - -
?/? c.567G>T r.(=) p.(=) g.183705582C>A Copied from the Exome Variant Server ABCC5_000211 1/13006 0/8600 1/4406 - - - - - - -
?/? c.591+22C>T r.(=) p.(=) g.183705536G>A Copied from the Exome Variant Server ABCC5_000209 1/13006 1/8600 0/4406 - - - - - - -
?/? c.591+28T>A r.(=) p.(=) g.183705530A>T Copied from the Exome Variant Server ABCC5_000207 2/13006 1/8600 1/4406 - - - - - - -
?/? c.591+2299C>T r.(=) p.(=) g.183703259G>A Copied from the Exome Variant Server ABCC5_000205 4/5734 4/3982 0/1752 - - - - - - -
?/? c.591+2350A>T r.(=) p.(=) g.183703208T>A Copied from the Exome Variant Server ABCC5_000203 1/13006 1/8600 0/4406 - - - - - - -
?/? c.591+2369C>T r.(=) p.(=) g.183703189G>A Copied from the Exome Variant Server ABCC5_000201 114/13006 102/8600 12/4406 - - - - - - -
?/? c.592-2348G>T r.(=) p.(=) g.183703143C>A Copied from the Exome Variant Server ABCC5_000200 1/13006 0/8600 1/4406 - - - - - - -
?/? c.592-1886C>A r.(=) p.(=) g.183702681G>T Copied from the Exome Variant Server ABCC5_000199 1/5734 1/3982 0/1752 - - - - - - -
?/? c.592-1805C>A r.(=) p.(=) g.183702600G>T Copied from the Exome Variant Server ABCC5_000198 1/5734 1/3982 0/1752 - - - - - - -
?/? c.592-38G>A r.(=) p.(=) g.183700833C>T Copied from the Exome Variant Server ABCC5_000197 1/12612 0/8444 1/4168 - - - - - - -
?/? c.592-30G>A r.(=) p.(=) g.183700825C>T Copied from the Exome Variant Server ABCC5_000196 1/12626 0/8448 1/4178 - - - - - - -
?/? c.592-12C>T r.(=) p.(=) g.183700807G>A Copied from the Exome Variant Server ABCC5_000195 1/12628 0/8448 1/4180 - - - - - - -
?/? c.627G>A r.(=) p.(=) g.183700760C>T Copied from the Exome Variant Server ABCC5_000194 1/12490 1/8396 0/4094 - - - - - - -
?/? c.683C>T r.(?) p.(Thr228Met) g.183700704G>A Copied from the Exome Variant Server ABCC5_000193 2/12430 0/8362 2/4068 - - - - - - -
?/? c.684G>A r.(=) p.(=) g.183700703C>T Copied from the Exome Variant Server ABCC5_000192 1/12420 1/8360 0/4060 - - - - - - -
?/? c.739G>A r.(?) p.(Gly247Ser) g.183700648C>T Copied from the Exome Variant Server ABCC5_000191 2/12254 2/8296 0/3958 - - - - - - -
?/? c.750G>A r.(=) p.(=) g.183700637C>T Copied from the Exome Variant Server ABCC5_000190 1/12168 1/8264 0/3904 - - - - - - -
?/? c.813A>G r.(=) p.(=) g.183700574T>C Copied from the Exome Variant Server ABCC5_000189 1/12104 0/8270 1/3834 - - - - - - -
?/? c.825+10G>A r.(=) p.(=) g.183700552C>T Copied from the Exome Variant Server ABCC5_000188 191/12134 1/8272 190/3862 - - - - - - -
?/? c.825+36A>G r.(=) p.(=) g.183700526T>C Copied from the Exome Variant Server ABCC5_000187 17/12142 0/8278 17/3864 - - - - - - -
?/? c.826-43C>T r.(=) p.(=) g.183700455G>A Copied from the Exome Variant Server ABCC5_000186 2/12038 0/8232 2/3806 - - - - - - -
?/? c.826-42G>A r.(=) p.(=) g.183700454C>T Copied from the Exome Variant Server ABCC5_000185 4/12036 1/8236 3/3800 - - - - - - -
?/? c.826-17C>T r.(=) p.(=) g.183700429G>A Copied from the Exome Variant Server ABCC5_000184 1/12000 0/8220 1/3780 - - - - - - -
?/? c.826-16T>A r.(=) p.(=) g.183700428A>T Copied from the Exome Variant Server ABCC5_000183 1/11998 0/8220 1/3778 - - - - - - -
?/? c.889C>T r.(=) p.(=) g.183700349G>A Copied from the Exome Variant Server ABCC5_000182 3/11992 3/8230 0/3762 - - - - - - -
?/? c.960C>T r.(=) p.(=) g.183700278G>A Copied from the Exome Variant Server ABCC5_000181 1/11952 1/8214 0/3738 - - - - - - -
?/? c.999+28G>A r.(=) p.(=) g.183700211C>T Copied from the Exome Variant Server ABCC5_000180 5070/11964 3064/8216 2006/3748 - - - - - - -
?/? c.1000-13C>G r.(=) p.(=) g.183699675G>C Copied from the Exome Variant Server ABCC5_000179 1/12046 1/8240 0/3806 - - - - - - -
?/? c.1000A>C r.(?) p.(Met334Leu) g.183699662T>G Copied from the Exome Variant Server ABCC5_000178 1/12054 1/8254 0/3800 - - - - - - -
?/? c.1049C>T r.(?) p.(Ala350Val) g.183699613G>A Copied from the Exome Variant Server ABCC5_000177 1/11988 0/8236 1/3752 - - - - - - -
?/? c.1053G>A r.(=) p.(=) g.183699609C>T Copied from the Exome Variant Server ABCC5_000176 1/11984 1/8234 0/3750 - - - - - - -
?/? c.1067A>G r.(?) p.(Gln356Arg) g.183699595T>C Copied from the Exome Variant Server ABCC5_000175 1/11946 1/8214 0/3732 - - - - - - -
?/? c.1146A>G r.(=) p.(=) g.183699516T>C Copied from the Exome Variant Server ABCC5_000174 4091/11964 3065/8214 1026/3750 - - - - - - -
?/? c.1147+5G>C r.spl? p.? g.183699510C>G Copied from the Exome Variant Server ABCC5_000173 1/11972 1/8214 0/3758 - - - - - - -
?/? c.1147+21T>C r.(=) p.(=) g.183699494A>G Copied from the Exome Variant Server ABCC5_000172 1/11978 0/8214 1/3764 - - - - - - -
?/? c.1166G>A r.(?) p.(Arg389His) g.183696421C>T Copied from the Exome Variant Server ABCC5_000171 1/12310 1/8340 0/3970 - - - - - - -
?/? c.1185T>C r.(=) p.(=) g.183696402A>G Copied from the Exome Variant Server ABCC5_000170 7717/12448 4731/8378 2986/4070 - - - - - - -
?/? c.1200C>T r.(=) p.(=) g.183696387G>A Copied from the Exome Variant Server ABCC5_000169 1059/12536 6/8410 1053/4126 - - - - - - -
?/? c.1226T>C r.(?) p.(Val409Ala) g.183696361A>G Copied from the Exome Variant Server ABCC5_000168 2/12660 2/8458 0/4202 - - - - - - -
?/? c.1278C>T r.(=) p.(=) g.183696309G>A Copied from the Exome Variant Server ABCC5_000167 1/12564 1/8436 0/4128 - - - - - - -
?/? c.1296+16G>C r.(=) p.(=) g.183696275C>G Copied from the Exome Variant Server ABCC5_000166 1/12366 0/8356 1/4010 - - - - - - -
?/? c.1297-11C>T r.(=) p.(=) g.183695423G>A Copied from the Exome Variant Server ABCC5_000165 2/12174 1/8288 1/3886 - - - - - - -
?/? c.1404+6T>C r.(=) p.(=) g.183695299A>G Copied from the Exome Variant Server ABCC5_000163 1/11968 1/8214 0/3754 - - - - - - -
?/? c.1404+8G>T r.(=) p.(=) g.183695297C>A Copied from the Exome Variant Server ABCC5_000161 1/11972 0/8214 1/3758 - - - - - - -
?/? c.1404+26G>A r.(=) p.(=) g.183695279C>T Copied from the Exome Variant Server ABCC5_000159 121/11916 116/8190 5/3726 - - - - - - -
?/? c.1502C>A r.(?) p.(Ser501Tyr) g.183689610G>T Copied from the Exome Variant Server ABCC5_000157 43/12220 41/8308 2/3912 - - - - - - -
?/? c.1516A>G r.(?) p.(Ile506Val) g.183689596T>C Copied from the Exome Variant Server ABCC5_000155 2/12234 2/8294 0/3940 - - - - - - -
?/? c.1526C>T r.(?) p.(Ser509Leu) g.183689586G>A Copied from the Exome Variant Server ABCC5_000153 4/12226 4/8294 0/3932 - - - - - - -
?/? c.1620G>A r.(=) p.(=) g.183689492C>T Copied from the Exome Variant Server ABCC5_000150 2/12668 0/8460 2/4208 - - - - - - -
?/? c.1656C>G r.(?) p.(Asp552Glu) g.183689456G>C Copied from the Exome Variant Server ABCC5_000148 2/12732 0/8482 2/4250 - - - - - - -
?/? c.1717C>T r.(?) p.(Arg573Cys) g.183689395G>A Copied from the Exome Variant Server ABCC5_000164 1/12784 1/8486 0/4298 - - - - - - -
?/? c.1761+11C>T r.(=) p.(=) g.183689340G>A Copied from the Exome Variant Server ABCC5_000162 85/12528 2/8382 83/4146 - - - - - - -
?/? c.1761+15C>T r.(=) p.(=) g.183689336G>A Copied from the Exome Variant Server ABCC5_000160 1/12518 0/8380 1/4138 - - - - - - -
?/? c.1761+19G>C r.(=) p.(=) g.183689332C>G Copied from the Exome Variant Server ABCC5_000158 44/12478 1/8374 43/4104 - - - - - - -
?/? c.1761+30C>T r.(=) p.(=) g.183689321G>A Copied from the Exome Variant Server ABCC5_000156 1/12380 0/8356 1/4024 - - - - - - -
?/? c.1761+31G>A r.(=) p.(=) g.183689320C>T Copied from the Exome Variant Server ABCC5_000154 1/12316 1/8330 0/3986 - - - - - - -
?/? c.1761+51G>A r.(=) p.(=) g.183689300C>T Copied from the Exome Variant Server ABCC5_000152 1/12094 1/8254 0/3840 - - - - - - -
?/? c.1762-51T>C r.(=) p.(=) g.183685605A>G Copied from the Exome Variant Server ABCC5_000151 1/12234 1/8302 0/3932 - - - - - - -
?/? c.1762-43T>C r.(=) p.(=) g.183685597A>G Copied from the Exome Variant Server ABCC5_000149 225/12224 3/8306 222/3918 - - - - - - -
?/? c.1762-26C>G r.(=) p.(=) g.183685580G>C Copied from the Exome Variant Server ABCC5_000147 1/12224 0/8310 1/3914 - - - - - - -
?/? c.1762-10C>T r.(=) p.(=) g.183685564G>A Copied from the Exome Variant Server ABCC5_000146 1/12176 1/8286 0/3890 - - - - - - -
?/? c.1782T>C r.(=) p.(=) g.183685534A>G Copied from the Exome Variant Server ABCC5_000145 7616/12118 4670/8270 2946/3848 - - - - - - -
?/? c.1834-10C>T r.(=) p.(=) g.183683299G>A Copied from the Exome Variant Server ABCC5_000144 13/12336 12/8330 1/4006 - - - - - - -
?/? c.1838C>T r.(?) p.(Thr613Met) g.183683285G>A Copied from the Exome Variant Server ABCC5_000143 1/12340 0/8334 1/4006 - - - - - - -
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