Unique variants in gene RHBDF2

Information The variants shown are described using the NM_024599.5 transcript reference sequence.

208 entries on 3 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-21-26C>T r.(=) p.(=) g.74477653G>A Copied from the Exome Variant Server RHBDF2_000208 143/12990 0/8598 143/4392
1 c.-21-25G>A r.(=) p.(=) g.74477652C>T Copied from the Exome Variant Server RHBDF2_000207 5/12994 1/8598 4/4396
1 c.-19C>T r.(=) p.(=) g.74477625G>A Copied from the Exome Variant Server RHBDF2_000206 1/13002 1/8598 0/4404
1 c.-14G>A r.(=) p.(=) g.74477620C>T Copied from the Exome Variant Server RHBDF2_000204 1617/13002 1153/8598 464/4404
1 c.-13C>T r.(=) p.(=) g.74477619G>A Copied from the Exome Variant Server RHBDF2_000205 1/13002 1/8598 0/4404
1 c.25G>A r.(?) p.(Gly9Arg) g.74477582C>T Copied from the Exome Variant Server RHBDF2_000203 4/13006 2/8600 2/4406
1 c.28A>C r.(?) p.(Ser10Arg) g.74477579T>G Copied from the Exome Variant Server RHBDF2_000202 9/13006 6/8600 3/4406
1 c.31G>A r.(?) p.(Val11Met) g.74477576C>T Copied from the Exome Variant Server RHBDF2_000201 7/13006 3/8600 4/4406
1 c.71C>T r.(?) p.(Pro24Leu) g.74477536G>A Copied from the Exome Variant Server RHBDF2_000200 1/13006 1/8600 0/4406
1 c.89C>G r.(?) p.(Thr30Ser) g.74477518G>C Copied from the Exome Variant Server RHBDF2_000199 1/13006 0/8600 1/4406
1 c.139A>G r.(?) p.(Met47Val) g.74477468T>C Copied from the Exome Variant Server RHBDF2_000198 1/13006 0/8600 1/4406
1 c.150+36G>A r.(=) p.(=) g.74477421C>T Copied from the Exome Variant Server RHBDF2_000197 2/13006 1/8600 1/4406
1 c.151-30G>T r.(=) p.(=) g.74476053C>A Copied from the Exome Variant Server RHBDF2_000196 133/12906 1/8536 132/4370
1 c.151-22C>G r.(=) p.(=) g.74476045G>C Copied from the Exome Variant Server RHBDF2_000195 5175/12954 3887/8570 1288/4384
1 c.177A>G r.(=) p.(=) g.74475997T>C Copied from the Exome Variant Server RHBDF2_000194 1/13006 0/8600 1/4406
1 c.199G>T r.(?) p.(Ala67Ser) g.74475975C>A Copied from the Exome Variant Server RHBDF2_000193 5254/13002 3956/8596 1298/4406
1 c.210C>T r.(=) p.(=) g.74475964G>A Copied from the Exome Variant Server RHBDF2_000192 1/13004 0/8598 1/4406
1 c.239G>C r.(?) p.(Arg80Thr) g.74475935C>G Copied from the Exome Variant Server RHBDF2_000191 1/13006 1/8600 0/4406
1 c.258G>A r.(=) p.(=) g.74475916C>T Copied from the Exome Variant Server RHBDF2_000190 1/13006 1/8600 0/4406
1 c.265G>A r.(?) p.(Val89Ile) g.74475909C>T Copied from the Exome Variant Server RHBDF2_000189 2/13006 2/8600 0/4406
1 c.290G>A r.(?) p.(Arg97Gln) g.74475884C>T Copied from the Exome Variant Server RHBDF2_000188 1/13004 0/8598 1/4406
1 c.300G>A r.(=) p.(=) g.74475874C>T Copied from the Exome Variant Server RHBDF2_000187 2/13006 2/8600 0/4406
1 c.326G>A r.(?) p.(Arg109His) g.74475848C>T Copied from the Exome Variant Server RHBDF2_000186 3/13006 1/8600 2/4406
1 c.351C>T r.(=) p.(=) g.74475823G>A Copied from the Exome Variant Server RHBDF2_000185 1/13006 0/8600 1/4406
1 c.352A>C r.(?) p.(Ile118Leu) g.74475822T>G Copied from the Exome Variant Server RHBDF2_000184 1/13006 1/8600 0/4406
1 c.356G>A r.(?) p.(Arg119His) g.74475818C>T Copied from the Exome Variant Server RHBDF2_000183 1/13006 1/8600 0/4406
1 c.359+10C>T r.(=) p.(=) g.74475805G>A Copied from the Exome Variant Server RHBDF2_000182 5/12996 1/8598 4/4398
1 c.359+11C>G r.(=) p.(=) g.74475804G>C Copied from the Exome Variant Server RHBDF2_000181 1/12994 0/8598 1/4396
1 c.359+29C>T r.(=) p.(=) g.74475786G>A Copied from the Exome Variant Server RHBDF2_000180 1/12934 1/8558 0/4376
1 c.359+34C>G r.(=) p.(=) g.74475781G>C Copied from the Exome Variant Server RHBDF2_000179 2/12790 2/8468 0/4322
1 c.360-50C>T r.(=) p.(=) g.74475409G>A Copied from the Exome Variant Server RHBDF2_000178 383/12846 342/8508 41/4338
1 c.360-13T>C r.(=) p.(=) g.74475372A>G Copied from the Exome Variant Server RHBDF2_000177 1/12952 1/8564 0/4388
1 c.364G>A r.(?) p.(Ala122Thr) g.74475355C>T Copied from the Exome Variant Server RHBDF2_000176 76/12976 1/8582 75/4394
1 c.391G>A r.(?) p.(Asp131Asn) g.74475328C>T Copied from the Exome Variant Server RHBDF2_000175 1/12972 1/8574 0/4398
1 c.401G>A r.(?) p.(Gly134Glu) g.74475318C>T Copied from the Exome Variant Server RHBDF2_000174 3/12970 3/8576 0/4394
1 c.406C>T r.(?) p.(Arg136Trp) g.74475313G>A Copied from the Exome Variant Server RHBDF2_000173 3/12966 3/8572 0/4394
1 c.429C>G r.(?) p.(Ser143Arg) g.74475290G>C Copied from the Exome Variant Server RHBDF2_000172 1/12992 1/8590 0/4402
1 c.448C>T r.(?) p.(Arg150Cys) g.74475271G>A Copied from the Exome Variant Server RHBDF2_000171 2/12998 1/8592 1/4406
1 c.453C>T r.(=) p.(=) g.74475266G>A Copied from the Exome Variant Server RHBDF2_000170 1/13000 0/8594 1/4406
1 c.479G>A r.(?) p.(Arg160His) g.74475240C>T Copied from the Exome Variant Server RHBDF2_000169 16/13006 0/8600 16/4406
1 c.509C>T r.(?) p.(Pro170Leu) g.74475210G>A Copied from the Exome Variant Server RHBDF2_000168 1/13006 0/8600 1/4406
1 c.545A>T r.(?) p.(Lys182Met) g.74475174T>A Copied from the Exome Variant Server RHBDF2_000167 1/13006 0/8600 1/4406
1 c.555+20G>A r.(=) p.(=) g.74475144C>T Copied from the Exome Variant Server RHBDF2_000166 1/13004 0/8600 1/4404
1 c.556-17G>A r.(=) p.(=) g.74475108C>T Copied from the Exome Variant Server RHBDF2_000165 1/13002 1/8598 0/4404
1 c.561G>A r.(=) p.(=) g.74475086C>T Copied from the Exome Variant Server RHBDF2_000164 1/13000 1/8598 0/4402
1 c.581G>A r.(?) p.(Arg194Gln) g.74475066C>T Copied from the Exome Variant Server RHBDF2_000163 1/13000 1/8598 0/4402
1 c.582G>A r.(=) p.(=) g.74475065C>T Copied from the Exome Variant Server RHBDF2_000162 1/12998 0/8596 1/4402
1 c.589C>T r.(?) p.(Arg197Cys) g.74475058G>A Copied from the Exome Variant Server RHBDF2_000161 1/12998 1/8596 0/4402
1 c.597G>A r.(=) p.(=) g.74475050C>T Copied from the Exome Variant Server RHBDF2_000160 15/13000 12/8598 3/4402
1 c.611G>A r.(?) p.(Arg204Lys) g.74475036C>T Copied from the Exome Variant Server RHBDF2_000159 3/13004 3/8600 0/4404
1 c.612G>A r.(=) p.(=) g.74475035C>T Copied from the Exome Variant Server RHBDF2_000158 21/13004 0/8600 21/4404
1 c.619G>A r.(?) p.(Ala207Thr) g.74475028C>T Copied from the Exome Variant Server RHBDF2_000157 1/13004 1/8600 0/4404
1 c.623C>T r.(?) p.(Pro208Leu) g.74475024G>A Copied from the Exome Variant Server RHBDF2_000156 10343/13006 8075/8600 2268/4406
1 c.633G>A r.(=) p.(=) g.74475014C>T Copied from the Exome Variant Server RHBDF2_000154 4/13006 0/8600 4/4406
1 c.642C>T r.(=) p.(=) g.74475005G>A Copied from the Exome Variant Server RHBDF2_000155 1/13006 0/8600 1/4406
1 c.643G>A r.(?) p.(Gly215Arg) g.74475004C>T Copied from the Exome Variant Server RHBDF2_000153 1/13006 1/8600 0/4406
1 c.677G>A r.(?) p.(Arg226His) g.74474970C>T Copied from the Exome Variant Server RHBDF2_000152 1/13006 1/8600 0/4406
1 c.700C>T r.(?) p.(Arg234Cys) g.74474947G>A Copied from the Exome Variant Server RHBDF2_000151 4/13006 0/8600 4/4406
1 c.701G>A r.(?) p.(Arg234His) g.74474946C>T Copied from the Exome Variant Server RHBDF2_000150 1/13006 0/8600 1/4406
1 c.704G>A r.(?) p.(Arg235His) g.74474943C>T Copied from the Exome Variant Server RHBDF2_000149 1/13006 1/8600 0/4406
1 c.745G>A r.(?) p.(Ala249Thr) g.74474902C>T Copied from the Exome Variant Server RHBDF2_000148 316/13006 5/8600 311/4406
1 c.748G>T r.(?) p.(Ala250Ser) g.74474899C>A Copied from the Exome Variant Server RHBDF2_000147 1/13006 1/8600 0/4406
1 c.760-29C>A r.(=) p.(=) g.74473896G>T Copied from the Exome Variant Server RHBDF2_000146 1/13002 0/8596 1/4406
1 c.760-25T>G r.(=) p.(=) g.74473892A>C Copied from the Exome Variant Server RHBDF2_000145 1/13002 0/8596 1/4406
1 c.760-8G>A r.(=) p.(=) g.74473875C>T Copied from the Exome Variant Server RHBDF2_000144 3/13004 0/8598 3/4406
1 c.767C>T r.(?) p.(Ser256Leu) g.74473860G>A Copied from the Exome Variant Server RHBDF2_000143 2/13006 0/8600 2/4406
1 c.768G>A r.(=) p.(=) g.74473859C>T Copied from the Exome Variant Server RHBDF2_000142 12/13006 11/8600 1/4406
1 c.791G>A r.(?) p.(Arg264Gln) g.74473836C>T Copied from the Exome Variant Server RHBDF2_000141 6/13006 0/8600 6/4406
1 c.807G>A r.(=) p.(=) g.74473820C>T Copied from the Exome Variant Server RHBDF2_000140 1/13006 1/8600 0/4406
1 c.808C>T r.(?) p.(Arg270Cys) g.74473819G>A Copied from the Exome Variant Server RHBDF2_000139 1/13006 0/8600 1/4406
1 c.809G>A r.(?) p.(Arg270His) g.74473818C>T Copied from the Exome Variant Server RHBDF2_000138 3/13006 2/8600 1/4406
1 c.846G>C r.(=) p.(=) g.74473781C>G Copied from the Exome Variant Server RHBDF2_000137 1/13006 1/8600 0/4406
1 c.849C>T r.(=) p.(=) g.74473778G>A Copied from the Exome Variant Server RHBDF2_000136 1/13006 0/8600 1/4406
1 c.850G>A r.(?) p.(Asp284Asn) g.74473777C>T Copied from the Exome Variant Server RHBDF2_000135 1/13006 1/8600 0/4406
1 c.875C>T r.(?) p.(Ser292Phe) g.74473752G>A Copied from the Exome Variant Server RHBDF2_000134 2/13006 1/8600 1/4406
1 c.888+12G>A r.(=) p.(=) g.74473727C>T Copied from the Exome Variant Server RHBDF2_000133 3/13006 0/8600 3/4406
1 c.888+18G>A r.(=) p.(=) g.74473721C>T Copied from the Exome Variant Server RHBDF2_000132 1/13006 1/8600 0/4406
1 c.888+41G>T r.(=) p.(=) g.74473698C>A Copied from the Exome Variant Server RHBDF2_000131 1/13006 1/8600 0/4406
1 c.888+44T>C r.(=) p.(=) g.74473695A>G Copied from the Exome Variant Server RHBDF2_000130 8/13006 8/8600 0/4406
1 c.889-52_889-51insG r.(=) p.(=) g.74473431_74473432insC Copied from the Exome Variant Server RHBDF2_000129 11/12428 6/8194 5/4234
1 c.889-8C>G r.(=) p.(=) g.74473388G>C Copied from the Exome Variant Server RHBDF2_000128 15/13000 0/8596 15/4404
1 c.900C>T r.(=) p.(=) g.74473369G>A Copied from the Exome Variant Server RHBDF2_000127 3/13006 0/8600 3/4406
1 c.907C>A r.(?) p.(Pro303Thr) g.74473362G>T Copied from the Exome Variant Server RHBDF2_000126 1/13006 1/8600 0/4406
1 c.940G>A r.(?) p.(Ala314Thr) g.74473329C>T Copied from the Exome Variant Server RHBDF2_000125 9/13004 9/8600 0/4404
1 c.972C>A r.(=) p.(=) g.74473297G>T Copied from the Exome Variant Server RHBDF2_000124 1/13004 1/8600 0/4404
1 c.987C>T r.(=) p.(=) g.74473282G>A Copied from the Exome Variant Server RHBDF2_000123 6/13006 0/8600 6/4406
1 c.988G>A r.(?) p.(Asp330Asn) g.74473281C>T Copied from the Exome Variant Server RHBDF2_000122 1/13006 1/8600 0/4406
1 c.1007+44C>G r.(=) p.(=) g.74473218G>C Copied from the Exome Variant Server RHBDF2_000121 3/12990 0/8590 3/4400
1 c.1007+50G>A r.(=) p.(=) g.74473212C>T Copied from the Exome Variant Server RHBDF2_000120 315/12990 205/8592 110/4398
1 c.1008-15C>T r.(=) p.(=) g.74473121G>A Copied from the Exome Variant Server RHBDF2_000119 2/12984 2/8588 0/4396
1 c.1036G>A r.(?) p.(Gly346Arg) g.74473078C>T Copied from the Exome Variant Server RHBDF2_000118 4/12990 4/8590 0/4400
1 c.1043G>A r.(?) p.(Arg348Gln) g.74473071C>T Copied from the Exome Variant Server RHBDF2_000117 6/12998 0/8594 6/4404
1 c.1054C>T r.(?) p.(Arg352Cys) g.74473060G>A Copied from the Exome Variant Server RHBDF2_000116 1/13002 1/8598 0/4404
1 c.1082C>T r.(?) p.(Ala361Val) g.74473032G>A Copied from the Exome Variant Server RHBDF2_000115 41/13002 0/8598 41/4404
1 c.1091G>A r.(?) p.(Arg364Gln) g.74473023C>T Copied from the Exome Variant Server RHBDF2_000114 4/13002 4/8598 0/4404
1 c.1092G>T r.(=) p.(=) g.74473022C>A Copied from the Exome Variant Server RHBDF2_000113 3/13002 0/8598 3/4404
1 c.1116C>T r.(=) p.(=) g.74472998G>A Copied from the Exome Variant Server RHBDF2_000112 585/13004 138/8600 447/4404
1 c.1125C>A r.(=) p.(=) g.74472989G>T Copied from the Exome Variant Server RHBDF2_000111 2/13000 0/8600 2/4400
1 c.1150C>T r.(?) p.(Arg384Cys) g.74472964G>A Copied from the Exome Variant Server RHBDF2_000110 3/12982 3/8584 0/4398
1 c.1203-35G>A r.(=) p.(=) g.74471258C>T Copied from the Exome Variant Server RHBDF2_000109 15/12922 13/8546 2/4376
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