Full data view for gene PHKA2

Information The variants shown are described using the NM_000292.2 transcript reference sequence.

276 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.-24C>T r.(=) p.(=) g.19002074G>A Copied from the Exome Variant Server PHKA2_000269 30/10560 29/6726 1/3834 - - - - - - -
?/? c.4C>G r.(?) p.(Arg2Gly) g.19002047G>C Copied from the Exome Variant Server PHKA2_000276 1/10563 0/6728 1/3835 - - - - - - -
?/? c.67C>G r.(?) p.(Leu23Val) g.19001984G>C Copied from the Exome Variant Server PHKA2_000267 1/10563 1/6728 0/3835 - - - - - - -
?/? c.69G>C r.(=) p.(=) g.19001982C>G Copied from the Exome Variant Server PHKA2_000264 1/10563 0/6728 1/3835 - - - - - - -
?/? c.78+23G>A r.(=) p.(=) g.19001950C>T Copied from the Exome Variant Server PHKA2_000275 4/10563 0/6728 4/3835 - - - - - - -
?/? c.78+25A>G r.(=) p.(=) g.19001948T>C Copied from the Exome Variant Server PHKA2_000262 1/10563 0/6728 1/3835 - - - - - - -
?/? c.78+35C>T r.(=) p.(=) g.19001938G>A Copied from the Exome Variant Server PHKA2_000260 1/10563 1/6728 0/3835 - - - - - - -
?/? c.78+38C>T r.(=) p.(=) g.19001935G>A Copied from the Exome Variant Server PHKA2_000258 4/10563 4/6728 0/3835 - - - - - - -
?/? c.78+45A>G r.(=) p.(=) g.19001928T>C Copied from the Exome Variant Server PHKA2_000256 1/10563 1/6728 0/3835 - - - - - - -
?/? c.79-45G>A r.(=) p.(=) g.18972575C>T Copied from the Exome Variant Server PHKA2_000254 8/10563 1/6728 7/3835 - - - - - - -
?/? c.79-24del r.(=) p.(=) g.18972554del Copied from the Exome Variant Server PHKA2_000252 52/10205 0/6484 52/3721 - - - - - - -
?/? c.84C>T r.(=) p.(=) g.18972525G>A Copied from the Exome Variant Server PHKA2_000274 1/10563 0/6728 1/3835 - - - - - - -
?/? c.112G>C r.(?) p.(Glu38Gln) g.18972497C>G Copied from the Exome Variant Server PHKA2_000273 257/10563 242/6728 15/3835 - - - - - - -
?/? c.132G>A r.(=) p.(=) g.18972477C>T Copied from the Exome Variant Server PHKA2_000272 4/10563 0/6728 4/3835 - - - - - - -
?/? c.237+26C>T r.(=) p.(=) g.18972346G>A Copied from the Exome Variant Server PHKA2_000271 1/10563 1/6728 0/3835 - - - - - - -
?/? c.237+40C>T r.(=) p.(=) g.18972332G>A Copied from the Exome Variant Server PHKA2_000270 1/10563 1/6728 0/3835 - - - - - - -
?/? c.238-47C>T r.(=) p.(=) g.18970706G>A Copied from the Exome Variant Server PHKA2_000268 1/10563 0/6728 1/3835 - - - - - - -
?/? c.238-15G>C r.(=) p.(=) g.18970674C>G Copied from the Exome Variant Server PHKA2_000266 1/10563 0/6728 1/3835 - - - - - - -
?/? c.255G>A r.(?) p.(Met85Ile) g.18970642C>T Copied from the Exome Variant Server PHKA2_000265 1/10563 1/6728 0/3835 - - - - - - -
?/? c.285+16A>G r.(=) p.(=) g.18970596T>C Copied from the Exome Variant Server PHKA2_000263 1/10563 0/6728 1/3835 - - - - - - -
?/? c.285+41C>T r.(=) p.(=) g.18970571G>A Copied from the Exome Variant Server PHKA2_000261 1/10563 0/6728 1/3835 - - - - - - -
?/? c.285+56G>A r.(=) p.(=) g.18970556C>T Copied from the Exome Variant Server PHKA2_000259 1/3600 1/2391 0/1209 - - - - - - -
?/? c.286-47C>A r.(=) p.(=) g.18969437G>T Copied from the Exome Variant Server PHKA2_000257 1/10563 1/6728 0/3835 - - - - - - -
?/? c.286-36C>T r.(=) p.(=) g.18969426G>A Copied from the Exome Variant Server PHKA2_000255 24/10563 0/6728 24/3835 - - - - - - -
?/? c.286-21C>T r.(=) p.(=) g.18969411G>A Copied from the Exome Variant Server PHKA2_000253 2/10563 1/6728 1/3835 - - - - - - -
?/? c.339C>T r.(=) p.(=) g.18969337G>A Copied from the Exome Variant Server PHKA2_000251 1/10563 0/6728 1/3835 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.18969283G>A Copied from the Exome Variant Server PHKA2_000250 1/10563 1/6728 0/3835 - - - - - - -
?/? c.414C>A r.(=) p.(=) g.18969262G>T Copied from the Exome Variant Server PHKA2_000249 1/10563 1/6728 0/3835 - - - - - - -
?/? c.447C>T r.(=) p.(=) g.18969229G>A Copied from the Exome Variant Server PHKA2_000248 3/10563 1/6728 2/3835 - - - - - - -
?/? c.454+35A>T r.(=) p.(=) g.18969187T>A Copied from the Exome Variant Server PHKA2_000247 50/10563 1/6728 49/3835 - - - - - - -
?/? c.454+46G>A r.(=) p.(=) g.18969176C>T Copied from the Exome Variant Server PHKA2_000246 2/10562 0/6728 2/3834 - - - - - - -
?/? c.455-56G>A r.(=) p.(=) g.18967000C>T Copied from the Exome Variant Server PHKA2_000245 2/3600 0/2391 2/1209 - - - - - - -
?/? c.472A>G r.(?) p.(Thr158Ala) g.18966927T>C Copied from the Exome Variant Server PHKA2_000244 34/10563 0/6728 34/3835 - - - - - - -
?/? c.477C>T r.(=) p.(=) g.18966922G>A Copied from the Exome Variant Server PHKA2_000243 1/10563 1/6728 0/3835 - - - - - - -
?/? c.514A>G r.(?) p.(Ile172Val) g.18966885T>C Copied from the Exome Variant Server PHKA2_000242 1/10563 0/6728 1/3835 - - - - - - -
?/? c.538-51C>T r.(=) p.(=) g.18963327G>A Copied from the Exome Variant Server PHKA2_000241 1/10562 0/6727 1/3835 - - - - - - -
?/? c.538-36T>G r.(=) p.(=) g.18963312A>C Copied from the Exome Variant Server PHKA2_000240 2/10563 2/6728 0/3835 - - - - - - -
?/? c.538-24G>C r.(=) p.(=) g.18963300C>G Copied from the Exome Variant Server PHKA2_000239 1/10563 1/6728 0/3835 - - - - - - -
?/? c.538-3_538-2insC r.spl? p.? g.18963278_18963279insG Copied from the Exome Variant Server PHKA2_000238 1/10205 0/6484 1/3721 - - - - - - -
?/? c.585G>A r.(=) p.(=) g.18963229C>T Copied from the Exome Variant Server PHKA2_000237 1/10563 1/6728 0/3835 - - - - - - -
?/? c.618+26_618+29del r.(=) p.(=) g.18963167_18963170del Copied from the Exome Variant Server PHKA2_000236 23/10205 13/6484 10/3721 - - - - - - -
?/? c.619-47del r.(=) p.(=) g.18961973del Copied from the Exome Variant Server PHKA2_000235 63/10205 0/6484 63/3721 - - - - - - -
?/? c.717+9C>T r.(=) p.(=) g.18961819G>A Copied from the Exome Variant Server PHKA2_000234 2/10563 0/6728 2/3835 - - - - - - -
?/? c.717+39G>C r.(=) p.(=) g.18961789C>G Copied from the Exome Variant Server PHKA2_000233 1/10563 1/6728 0/3835 - - - - - - -
?/? c.718-50C>T r.(=) p.(=) g.18959843G>A Copied from the Exome Variant Server PHKA2_000232 1/10563 1/6728 0/3835 - - - - - - -
?/? c.718-40C>T r.(=) p.(=) g.18959833G>A Copied from the Exome Variant Server PHKA2_000231 3/10563 0/6728 3/3835 - - - - - - -
?/? c.718-3C>T r.spl? p.? g.18959796G>A Copied from the Exome Variant Server PHKA2_000230 137/10563 126/6728 11/3835 - - - - - - -
?/? c.721A>G r.(?) p.(Ile241Val) g.18959790T>C Copied from the Exome Variant Server PHKA2_000229 1/10563 0/6728 1/3835 - - - - - - -
?/? c.742A>C r.(=) p.(=) g.18959769T>G Copied from the Exome Variant Server PHKA2_000228 16/10563 15/6728 1/3835 - - - - - - -
?/? c.785T>G r.(?) p.(Ile262Ser) g.18959726A>C Copied from the Exome Variant Server PHKA2_000227 3/10563 3/6728 0/3835 - - - - - - -
?/? c.798G>A r.(=) p.(=) g.18959713C>T Copied from the Exome Variant Server PHKA2_000226 1/10563 1/6728 0/3835 - - - - - - -
?/? c.849T>A r.(=) p.(=) g.18959662A>T Copied from the Exome Variant Server PHKA2_000225 155/10563 4/6728 151/3835 - - - - - - -
?/? c.865-34C>A r.(=) p.(=) g.18958200G>T Copied from the Exome Variant Server PHKA2_000224 10/10563 0/6728 10/3835 - - - - - - -
?/? c.918+64T>C r.(=) p.(=) g.18958049A>G Copied from the Exome Variant Server PHKA2_000223 27/3600 0/2391 27/1209 - - - - - - -
?/? c.919-31C>T r.(=) p.(=) g.18956898G>A Copied from the Exome Variant Server PHKA2_000222 1/10563 0/6728 1/3835 - - - - - - -
?/? c.963C>T r.(=) p.(=) g.18956823G>A Copied from the Exome Variant Server PHKA2_000221 78/10563 1/6728 77/3835 - - - - - - -
?/? c.981G>A r.(=) p.(=) g.18956805C>T Copied from the Exome Variant Server PHKA2_000220 1/10563 1/6728 0/3835 - - - - - - -
?/? c.990G>A r.(=) p.(=) g.18956796C>T Copied from the Exome Variant Server PHKA2_000219 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1041+22C>T r.(=) p.(=) g.18956723G>A Copied from the Exome Variant Server PHKA2_000218 296/10563 77/6728 219/3835 - - - - - - -
?/? c.1042-25C>T r.(=) p.(=) g.18954293G>A Copied from the Exome Variant Server PHKA2_000217 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1042-17A>G r.(=) p.(=) g.18954285T>C Copied from the Exome Variant Server PHKA2_000216 8/10563 0/6728 8/3835 - - - - - - -
?/? c.1042-14G>A r.(=) p.(=) g.18954282C>T Copied from the Exome Variant Server PHKA2_000215 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1071A>G r.(=) p.(=) g.18954239T>C Copied from the Exome Variant Server PHKA2_000214 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1120G>A r.(?) p.(Ala374Thr) g.18954190C>T Copied from the Exome Variant Server PHKA2_000213 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1128G>A r.(=) p.(=) g.18954182C>T Copied from the Exome Variant Server PHKA2_000212 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1137+30C>T r.(=) p.(=) g.18954143G>A Copied from the Exome Variant Server PHKA2_000211 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1138-26G>A r.(=) p.(=) g.18949892C>T Copied from the Exome Variant Server PHKA2_000210 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1152C>T r.(=) p.(=) g.18949852G>A Copied from the Exome Variant Server PHKA2_000209 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1215C>T r.(=) p.(=) g.18949789G>A Copied from the Exome Variant Server PHKA2_000208 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1219T>C r.(?) p.(Tyr407His) g.18949785A>G Copied from the Exome Variant Server PHKA2_000207 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1238T>C r.(?) p.(Leu413Ser) g.18949766A>G Copied from the Exome Variant Server PHKA2_000206 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1245+24A>G r.(=) p.(=) g.18949735T>C Copied from the Exome Variant Server PHKA2_000205 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1246G>A r.(?) p.(Gly416Arg) g.18947424C>T Copied from the Exome Variant Server PHKA2_000204 70/10514 0/6691 70/3823 - - - - - - -
?/? c.1308T>G r.(=) p.(=) g.18947362A>C Copied from the Exome Variant Server PHKA2_000203 2/10516 2/6690 0/3826 - - - - - - -
?/? c.1324+10C>T r.(=) p.(=) g.18947336G>A Copied from the Exome Variant Server PHKA2_000202 1/10494 1/6676 0/3818 - - - - - - -
?/? c.1325-25G>A r.(=) p.(=) g.18944730C>T Copied from the Exome Variant Server PHKA2_000201 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1346A>G r.(?) p.(Asn449Ser) g.18944684T>C Copied from the Exome Variant Server PHKA2_000200 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1395C>T r.(=) p.(=) g.18944635G>A Copied from the Exome Variant Server PHKA2_000199 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1396G>A r.(?) p.(Ala466Thr) g.18944634C>T Copied from the Exome Variant Server PHKA2_000198 6/10563 5/6728 1/3835 - - - - - - -
?/? c.1398G>A r.(=) p.(=) g.18944632C>T Copied from the Exome Variant Server PHKA2_000197 18/10563 16/6728 2/3835 - - - - - - -
?/? c.1425G>A r.(=) p.(=) g.18944605C>T Copied from the Exome Variant Server PHKA2_000196 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1428C>T r.(=) p.(=) g.18944602G>A Copied from the Exome Variant Server PHKA2_000195 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1429C>T r.(?) p.(Arg477Trp) g.18944601G>A Copied from the Exome Variant Server PHKA2_000194 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1456C>T r.(?) p.(Leu486Phe) g.18944574G>A Copied from the Exome Variant Server PHKA2_000193 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1459+35A>G r.(=) p.(=) g.18944536T>C Copied from the Exome Variant Server PHKA2_000192 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1459+40G>A r.(=) p.(=) g.18944531C>T Copied from the Exome Variant Server PHKA2_000191 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1459+47C>T r.(=) p.(=) g.18944524G>A Copied from the Exome Variant Server PHKA2_000190 8/10563 1/6728 7/3835 - - - - - - -
?/? c.1460-43C>T r.(=) p.(=) g.18943938G>A Copied from the Exome Variant Server PHKA2_000189 88/10563 75/6728 13/3835 - - - - - - -
?/? c.1460-42G>A r.(=) p.(=) g.18943937C>T Copied from the Exome Variant Server PHKA2_000188 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1493C>T r.(?) p.(Pro498Leu) g.18943862G>A Copied from the Exome Variant Server PHKA2_000187 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1557T>C r.(=) p.(=) g.18943798A>G Copied from the Exome Variant Server PHKA2_000186 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1561A>G r.(?) p.(Thr521Ala) g.18943794T>C Copied from the Exome Variant Server PHKA2_000185 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1566C>G r.(=) p.(=) g.18943789G>C Copied from the Exome Variant Server PHKA2_000184 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1569+3G>A r.spl? p.? g.18943783C>T Copied from the Exome Variant Server PHKA2_000183 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1570-21C>A r.(=) p.(=) g.18942664G>T Copied from the Exome Variant Server PHKA2_000182 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1575C>T r.(=) p.(=) g.18942638G>A Copied from the Exome Variant Server PHKA2_000181 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1579C>G r.(?) p.(Gln527Glu) g.18942634G>C Copied from the Exome Variant Server PHKA2_000180 6/10563 6/6728 0/3835 - - - - - - -
?/? c.1612A>G r.(?) p.(Met538Val) g.18942601T>C Copied from the Exome Variant Server PHKA2_000179 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1618G>A r.(?) p.(Val540Met) g.18942595C>T Copied from the Exome Variant Server PHKA2_000178 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1635C>G r.(?) p.(Ile545Met) g.18942578G>C Copied from the Exome Variant Server PHKA2_000177 4/10563 4/6728 0/3835 - - - - - - -
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