All transcript variants in gene ABCA9

Information The variants shown are described using the NM_080283.3 transcript reference sequence.

331 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-13-15_-13-14insT r.(=) p.(=) g.67047294_67047295insA Copied from the Exome Variant Server ABCA9_000331 32/12516 2/8254 30/4262
?/? c.-13-12G>A r.(=) p.(=) g.67047292C>T Copied from the Exome Variant Server ABCA9_000330 1/13006 0/8600 1/4406
?/? c.-9C>T r.(=) p.(=) g.67047276G>A Copied from the Exome Variant Server ABCA9_000329 1/13006 1/8600 0/4406
?/? c.-7G>A r.(=) p.(=) g.67047274C>T Copied from the Exome Variant Server ABCA9_000328 3/13006 3/8600 0/4406
?/? c.63C>G r.(=) p.(=) g.67047205G>C Copied from the Exome Variant Server ABCA9_000327 2/13006 0/8600 2/4406
?/? c.96+38A>G r.(=) p.(=) g.67047134T>C Copied from the Exome Variant Server ABCA9_000326 1/13006 0/8600 1/4406
?/? c.97-47G>T r.(=) p.(=) g.67045678C>A Copied from the Exome Variant Server ABCA9_000325 7/12942 0/8572 7/4370
?/? c.133T>C r.(?) p.(Tyr45His) g.67045595A>G Copied from the Exome Variant Server ABCA9_000324 1/13006 0/8600 1/4406
?/? c.153A>T r.(?) p.(Leu51Phe) g.67045575T>A Copied from the Exome Variant Server ABCA9_000323 1/13006 1/8600 0/4406
?/? c.160G>A r.(?) p.(Val54Ile) g.67045568C>T Copied from the Exome Variant Server ABCA9_000322 1/13006 0/8600 1/4406
?/? c.189G>A r.(?) p.(Met63Ile) g.67045539C>T Copied from the Exome Variant Server ABCA9_000321 1/13006 1/8600 0/4406
?/? c.199C>G r.(?) p.(Arg67Gly) g.67045529G>C Copied from the Exome Variant Server ABCA9_000320 8/13006 5/8600 3/4406
?/? c.200G>A r.(?) p.(Arg67His) g.67045528C>T Copied from the Exome Variant Server ABCA9_000319 1/13006 1/8600 0/4406
?/? c.202G>T r.(?) p.(Val68Leu) g.67045526C>A Copied from the Exome Variant Server ABCA9_000318 1/13006 1/8600 0/4406
?/? c.240T>C r.(=) p.(=) g.67045488A>G Copied from the Exome Variant Server ABCA9_000317 1/13006 0/8600 1/4406
?/? c.258T>G r.(=) p.(=) g.67045470A>C Copied from the Exome Variant Server ABCA9_000316 1/13006 0/8600 1/4406
?/? c.276C>A r.(?) p.(Asn92Lys) g.67045452G>T Copied from the Exome Variant Server ABCA9_000315 247/13006 15/8600 232/4406
?/? c.304+1G>T r.spl? p.? g.67045423C>A Copied from the Exome Variant Server ABCA9_000314 1/13006 0/8600 1/4406
?/? c.372C>T r.(=) p.(=) g.67041410G>A Copied from the Exome Variant Server ABCA9_000313 21/13006 2/8600 19/4406
?/? c.399C>T r.(=) p.(=) g.67041383G>A Copied from the Exome Variant Server ABCA9_000312 70/13006 0/8600 70/4406
?/? c.412T>A r.(?) p.(Leu138Met) g.67041370A>T Copied from the Exome Variant Server ABCA9_000311 1/13006 0/8600 1/4406
?/? c.416A>G r.(?) p.(Lys139Arg) g.67041366T>C Copied from the Exome Variant Server ABCA9_000310 1/13006 0/8600 1/4406
?/? c.434G>A r.(?) p.(Arg145Lys) g.67041348C>T Copied from the Exome Variant Server ABCA9_000309 2/13006 2/8600 0/4406
?/? c.469+42C>T r.(=) p.(=) g.67041271G>A Copied from the Exome Variant Server ABCA9_000308 2/12996 2/8598 0/4398
?/? c.470-34A>G r.(=) p.(=) g.67040775T>C Copied from the Exome Variant Server ABCA9_000307 2/13006 0/8600 2/4406
?/? c.470-30C>T r.(=) p.(=) g.67040771G>A Copied from the Exome Variant Server ABCA9_000306 1/13006 1/8600 0/4406
?/? c.470-29G>A r.(=) p.(=) g.67040770C>T Copied from the Exome Variant Server ABCA9_000305 1/13006 0/8600 1/4406
?/? c.485del r.(?) p.(Val162Glyfs*5) g.67040726del Copied from the Exome Variant Server ABCA9_000304 1/12518 1/8254 0/4264
?/? c.489T>A r.(?) p.(Asn163Lys) g.67040722A>T Copied from the Exome Variant Server ABCA9_000303 1/13006 1/8600 0/4406
?/? c.498G>A r.(?) p.(Met166Ile) g.67040713C>T Copied from the Exome Variant Server ABCA9_000302 1/13006 0/8600 1/4406
?/? c.548_549insC r.(?) p.(Ala184Cysfs*3) g.67040662_67040663insG Copied from the Exome Variant Server ABCA9_000301 45/12518 37/8254 8/4264
?/? c.551C>T r.(?) p.(Ala184Val) g.67040660G>A Copied from the Exome Variant Server ABCA9_000300 1/13006 0/8600 1/4406
?/? c.572A>G r.(?) p.(Glu191Gly) g.67040639T>C Copied from the Exome Variant Server ABCA9_000299 1/13006 1/8600 0/4406
?/? c.573+29A>C r.(=) p.(=) g.67040609T>G Copied from the Exome Variant Server ABCA9_000298 492/13006 16/8600 476/4406
?/? c.574-46G>A r.(=) p.(=) g.67039902C>T Copied from the Exome Variant Server ABCA9_000297 60/13002 56/8596 4/4406
?/? c.574-20T>G r.(=) p.(=) g.67039876A>C Copied from the Exome Variant Server ABCA9_000296 2/13006 2/8600 0/4406
?/? c.596T>G r.(?) p.(Met199Arg) g.67039834A>C Copied from the Exome Variant Server ABCA9_000295 1/13006 1/8600 0/4406
?/? c.611C>A r.(?) p.(Ser204*) g.67039819G>T Copied from the Exome Variant Server ABCA9_000294 5/13006 5/8600 0/4406
?/? c.635T>C r.(?) p.(Ile212Thr) g.67039795A>G Copied from the Exome Variant Server ABCA9_000293 1/13006 0/8600 1/4406
?/? c.739C>T r.(?) p.(Gln247*) g.67039691G>A Copied from the Exome Variant Server ABCA9_000292 2/13006 2/8600 0/4406
?/? c.758C>T r.(?) p.(Thr253Met) g.67039672G>A Copied from the Exome Variant Server ABCA9_000291 1/13004 1/8600 0/4404
?/? c.759G>A r.(=) p.(=) g.67039671C>T Copied from the Exome Variant Server ABCA9_000290 15/13004 10/8600 5/4404
?/? c.785G>A r.(?) p.(Arg262Gln) g.67039645C>T Copied from the Exome Variant Server ABCA9_000289 741/13006 26/8600 715/4406
?/? c.800+17C>T r.(=) p.(=) g.67039613G>A Copied from the Exome Variant Server ABCA9_000288 4/13006 0/8600 4/4406
?/? c.800+31G>A r.(=) p.(=) g.67039599C>T Copied from the Exome Variant Server ABCA9_000287 267/13006 0/8600 267/4406
?/? c.801-51G>T r.(=) p.(=) g.67031993C>A Copied from the Exome Variant Server ABCA9_000286 2/12998 2/8592 0/4406
?/? c.801-20C>T r.(=) p.(=) g.67031962G>A Copied from the Exome Variant Server ABCA9_000285 2/13006 1/8600 1/4406
?/? c.801-19G>A r.(=) p.(=) g.67031961C>T Copied from the Exome Variant Server ABCA9_000284 2/13006 0/8600 2/4406
?/? c.818T>C r.(?) p.(Met273Thr) g.67031925A>G Copied from the Exome Variant Server ABCA9_000283 2/13006 2/8600 0/4406
?/? c.831C>T r.(=) p.(=) g.67031912G>A Copied from the Exome Variant Server ABCA9_000282 1/13004 1/8598 0/4406
?/? c.857C>A r.(?) p.(Ala286Asp) g.67031886G>T Copied from the Exome Variant Server ABCA9_000281 1/13006 0/8600 1/4406
?/? c.861T>C r.(=) p.(=) g.67031882A>G Copied from the Exome Variant Server ABCA9_000280 445/13006 3/8600 442/4406
?/? c.863T>C r.(?) p.(Ile288Thr) g.67031880A>G Copied from the Exome Variant Server ABCA9_000279 114/13006 1/8600 113/4406
?/? c.885C>A r.(=) p.(=) g.67031858G>T Copied from the Exome Variant Server ABCA9_000278 1/13006 1/8600 0/4406
?/? c.886G>A r.(?) p.(Val296Ile) g.67031857C>T Copied from the Exome Variant Server ABCA9_000277 2/13006 0/8600 2/4406
?/? c.912C>T r.(=) p.(=) g.67031831G>A Copied from the Exome Variant Server ABCA9_000276 1/13006 0/8600 1/4406
?/? c.937T>C r.(?) p.(Ser313Pro) g.67031806A>G Copied from the Exome Variant Server ABCA9_000275 1/13006 1/8600 0/4406
?/? c.938C>T r.(?) p.(Ser313Phe) g.67031805G>A Copied from the Exome Variant Server ABCA9_000274 1/13006 1/8600 0/4406
?/? c.942+2T>C r.spl? p.? g.67031799A>G Copied from the Exome Variant Server ABCA9_000273 11/13006 11/8600 0/4406
?/? c.942+35T>G r.(=) p.(=) g.67031766A>C Copied from the Exome Variant Server ABCA9_000272 1/13006 1/8600 0/4406
?/? c.942+38T>C r.(=) p.(=) g.67031763A>G Copied from the Exome Variant Server ABCA9_000271 62/13006 0/8600 62/4406
?/? c.943-37G>T r.(=) p.(=) g.67031609C>A Copied from the Exome Variant Server ABCA9_000270 1/12988 0/8590 1/4398
?/? c.964A>G r.(?) p.(Ser322Gly) g.67031551T>C Copied from the Exome Variant Server ABCA9_000269 2/13006 2/8600 0/4406
?/? c.1058G>A r.(?) p.(Arg353His) g.67031457C>T Copied from the Exome Variant Server ABCA9_000268 11138/13006 8074/8600 3064/4406
?/? c.1101C>G r.(=) p.(=) g.67031414G>C Copied from the Exome Variant Server ABCA9_000267 1/13006 1/8600 0/4406
?/? c.1128+13G>A r.(=) p.(=) g.67031374C>T Copied from the Exome Variant Server ABCA9_000266 1/13006 1/8600 0/4406
?/? c.1128+18A>G r.(=) p.(=) g.67031369T>C Copied from the Exome Variant Server ABCA9_000265 12272/13006 8246/8600 4026/4406
?/? c.1128+19del r.(=) p.(=) g.67031368del Copied from the Exome Variant Server ABCA9_000264 3/12518 1/8254 2/4264
?/? c.1128+37del r.(=) p.(=) g.67031350del Copied from the Exome Variant Server ABCA9_000263 1/12518 0/8254 1/4264
?/? c.1134A>G r.(?) p.(Ile378Met) g.67030009T>C Copied from the Exome Variant Server ABCA9_000262 2/12998 0/8592 2/4406
?/? c.1213A>G r.(?) p.(Met405Val) g.67029930T>C Copied from the Exome Variant Server ABCA9_000261 2/13000 2/8594 0/4406
?/? c.1275C>T r.(=) p.(=) g.67029868G>A Copied from the Exome Variant Server ABCA9_000260 2/13002 0/8596 2/4406
?/? c.1276G>A r.(?) p.(Ala426Thr) g.67029867C>T Copied from the Exome Variant Server ABCA9_000259 1/13002 0/8596 1/4406
?/? c.1276+1G>A r.spl? p.? g.67029866C>T Copied from the Exome Variant Server ABCA9_000258 1/13002 1/8596 0/4406
?/? c.1276+44G>C r.(=) p.(=) g.67029823C>G Copied from the Exome Variant Server ABCA9_000257 270/12998 0/8592 270/4406
?/? c.1277-40G>A r.(=) p.(=) g.67028457C>T Copied from the Exome Variant Server ABCA9_000256 5/13006 4/8600 1/4406
?/? c.1277-4A>G r.spl? p.? g.67028421T>C Copied from the Exome Variant Server ABCA9_000255 1/13006 1/8600 0/4406
?/? c.1338C>T r.(=) p.(=) g.67028356G>A Copied from the Exome Variant Server ABCA9_000254 1/13006 1/8600 0/4406
?/? c.1356G>A r.(=) p.(=) g.67028338C>T Copied from the Exome Variant Server ABCA9_000253 1/13006 1/8600 0/4406
?/? c.1434A>G r.(=) p.(=) g.67028260T>C Copied from the Exome Variant Server ABCA9_000252 6772/13006 5924/8600 848/4406
?/? c.1445+37C>G r.(=) p.(=) g.67028212G>C Copied from the Exome Variant Server ABCA9_000251 744/13006 202/8600 542/4406
?/? c.1446-11_1446-10del r.(=) p.(=) g.67025378_67025379del Copied from the Exome Variant Server ABCA9_000250 71/12470 63/8218 8/4252
?/? c.1457T>G r.(?) p.(Leu486Arg) g.67025357A>C Copied from the Exome Variant Server ABCA9_000249 1/12988 1/8588 0/4400
?/? c.1471G>A r.(?) p.(Ala491Thr) g.67025343C>T Copied from the Exome Variant Server ABCA9_000248 16/12986 15/8584 1/4402
?/? c.1479G>A r.(=) p.(=) g.67025335C>T Copied from the Exome Variant Server ABCA9_000247 1/12986 0/8586 1/4400
?/? c.1480T>C r.(?) p.(Cys494Arg) g.67025334A>G Copied from the Exome Variant Server ABCA9_000246 1/12986 1/8586 0/4400
?/? c.1505-43A>C r.(=) p.(=) g.67024829T>G Copied from the Exome Variant Server ABCA9_000245 1/13006 1/8600 0/4406
?/? c.1505-29G>C r.(=) p.(=) g.67024815C>G Copied from the Exome Variant Server ABCA9_000244 1/13006 0/8600 1/4406
?/? c.1505-26T>C r.(=) p.(=) g.67024812A>G Copied from the Exome Variant Server ABCA9_000243 1/13006 1/8600 0/4406
?/? c.1513T>C r.(?) p.(Phe505Leu) g.67024778A>G Copied from the Exome Variant Server ABCA9_000242 2/13006 0/8600 2/4406
?/? c.1514T>C r.(?) p.(Phe505Ser) g.67024777A>G Copied from the Exome Variant Server ABCA9_000241 1/13006 0/8600 1/4406
?/? c.1519A>G r.(?) p.(Ile507Val) g.67024772T>C Copied from the Exome Variant Server ABCA9_000240 1/13006 1/8600 0/4406
?/? c.1547T>C r.(?) p.(Leu516Pro) g.67024744A>G Copied from the Exome Variant Server ABCA9_000239 1/13006 1/8600 0/4406
?/? c.1549G>T r.(?) p.(Gly517Cys) g.67024742C>A Copied from the Exome Variant Server ABCA9_000238 1/13006 1/8600 0/4406
?/? c.1615+44T>C r.(=) p.(=) g.67024632A>G Copied from the Exome Variant Server ABCA9_000237 1/13006 1/8600 0/4406
?/? c.1616-46G>A r.(=) p.(=) g.67024002C>T Copied from the Exome Variant Server ABCA9_000236 3/12972 3/8588 0/4384
?/? c.1630T>A r.(?) p.(Tyr544Asn) g.67023942A>T Copied from the Exome Variant Server ABCA9_000235 3/13006 0/8600 3/4406
?/? c.1712_1713insATT r.(?) p.(Gln570_Phe571insLeu) g.67023859_67023860insAAT Copied from the Exome Variant Server ABCA9_000234 28/12518 0/8254 28/4264
?/? c.1756A>C r.(?) p.(Ile586Leu) g.67023816T>G Copied from the Exome Variant Server ABCA9_000233 3/13006 0/8600 3/4406
?/? c.1770G>T r.(?) p.(Leu590Phe) g.67023802C>A Copied from the Exome Variant Server ABCA9_000232 1/13006 1/8600 0/4406
Legend   « First ‹ Prev     1 2 3 4     Next › Last »