ClinVar Miner

List of variants in gene AIP reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 434
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_003977.4(AIP):c.920G>A (p.Arg307Gln) rs4930199 0.00016
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_003977.4(AIP):c.973C>T (p.Arg325Trp) rs765927395 0.00010
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_003977.4(AIP):c.561C>T (p.Asn187=) rs142037029 0.00008
NM_003977.4(AIP):c.575A>G (p.Glu192Gly) rs542237608 0.00008
NM_003977.4(AIP):c.724C>G (p.Leu242Val) rs772782309 0.00008
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_003977.4(AIP):c.403C>T (p.His135Tyr) rs150487522 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_003977.4(AIP):c.940C>T (p.Arg314Trp) rs375740557 0.00005
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.581A>G (p.His194Arg) rs747157774 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_003977.4(AIP):c.317G>A (p.Arg106His) rs373950586 0.00003
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_003977.4(AIP):c.545T>C (p.Ile182Thr) rs1437201944 0.00003
NM_003977.4(AIP):c.562C>T (p.Arg188Trp) rs577617733 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_003977.4(AIP):c.935G>A (p.Arg312Gln) rs775563618 0.00003
NM_003977.4(AIP):c.941G>A (p.Arg314Gln) rs540000299 0.00003
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586 0.00003
NM_003977.4(AIP):c.-3A>G rs989975901 0.00002
NM_003977.4(AIP):c.23T>G (p.Leu8Arg) rs555159979 0.00002
NM_003977.4(AIP):c.367G>A (p.Gly123Ser) rs1409029284 0.00002
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 0.00002
NM_003977.4(AIP):c.619G>A (p.Ala207Thr) rs1323279729 0.00002
NM_003977.4(AIP):c.633C>A (p.Asn211Lys) rs969728952 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.822C>A (p.Ala274=) rs145142121 0.00002
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_003977.4(AIP):c.919C>T (p.Arg307Trp) rs758248161 0.00002
NM_003977.4(AIP):c.12C>G (p.Ile4Met) rs756870384 0.00001
NM_003977.4(AIP):c.278A>G (p.Lys93Arg) rs942678425 0.00001
NM_003977.4(AIP):c.280-5C>T rs907846305 0.00001
NM_003977.4(AIP):c.281A>G (p.His94Arg) rs1458882359 0.00001
NM_003977.4(AIP):c.296C>T (p.Pro99Leu) rs1388668435 0.00001
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.319A>G (p.Asn107Asp) rs758681469 0.00001
NM_003977.4(AIP):c.325G>A (p.Ala109Thr) rs1865848427 0.00001
NM_003977.4(AIP):c.326C>T (p.Ala109Val) rs548910485 0.00001
NM_003977.4(AIP):c.334A>G (p.Lys112Glu) rs1489145468 0.00001
NM_003977.4(AIP):c.339C>G (p.Asp113Glu) rs1175753689 0.00001
NM_003977.4(AIP):c.345G>C (p.Leu115=) rs996404334 0.00001
NM_003977.4(AIP):c.356G>A (p.Arg119Gln) rs746414951 0.00001
NM_003977.4(AIP):c.35G>A (p.Gly12Glu) rs1357679684 0.00001
NM_003977.4(AIP):c.381G>A (p.Met127Ile) rs768435758 0.00001
NM_003977.4(AIP):c.394T>C (p.Ser132Pro) rs1865851081 0.00001
NM_003977.4(AIP):c.404A>G (p.His135Arg) rs769856618 0.00001
NM_003977.4(AIP):c.411C>A (p.Asp137Glu) rs1865851687 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.41A>C (p.Gln14Pro) rs1317189253 0.00001
NM_003977.4(AIP):c.428A>G (p.Gln143Arg) rs954223621 0.00001
NM_003977.4(AIP):c.460A>G (p.Met154Val) rs779653382 0.00001
NM_003977.4(AIP):c.468+3G>A rs868823652 0.00001
NM_003977.4(AIP):c.468G>A (p.Lys156=) rs1162771114 0.00001
NM_003977.4(AIP):c.469-17T>C rs886037872 0.00001
NM_003977.4(AIP):c.46C>T (p.Arg16Cys) rs549056286 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.532G>A (p.Ala178Thr) rs762351007 0.00001
NM_003977.4(AIP):c.547C>T (p.His183Tyr) rs757563781 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.574G>A (p.Glu192Lys) rs575347930 0.00001
NM_003977.4(AIP):c.688A>G (p.Ile230Val) rs1458744454 0.00001
NM_003977.4(AIP):c.695C>T (p.Pro232Leu) rs150594019 0.00001
NM_003977.4(AIP):c.6G>A (p.Ala2=) rs1865725846 0.00001
NM_003977.4(AIP):c.716A>G (p.Gln239Arg) rs748710275 0.00001
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573 0.00001
NM_003977.4(AIP):c.736G>A (p.Glu246Lys) rs775566997 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.758A>G (p.His253Arg) rs1316077675 0.00001
NM_003977.4(AIP):c.782A>G (p.Tyr261Cys) rs780149133 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_003977.4(AIP):c.787+3G>A rs1266489288 0.00001
NM_003977.4(AIP):c.787G>A (p.Asp263Asn) rs1467968646 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_003977.4(AIP):c.814G>A (p.Gly272Ser) rs1317329881 0.00001
NM_003977.4(AIP):c.815G>T (p.Gly272Val) rs779831121 0.00001
NM_003977.4(AIP):c.832G>A (p.Val278Met) rs776652386 0.00001
NM_003977.4(AIP):c.874C>G (p.Leu292Val) rs764465139 0.00001
NM_003977.4(AIP):c.88G>T (p.Asp30Tyr) rs1323103083 0.00001
NM_003977.4(AIP):c.913G>A (p.Glu305Lys) rs923956036 0.00001
NM_003977.4(AIP):c.934C>T (p.Arg312Trp) rs769858610 0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585 0.00001
NM_003977.4(AIP):c.952G>A (p.Glu318Lys) rs1009569366 0.00001
NM_003977.4(AIP):c.97A>G (p.Lys33Glu) rs750116890 0.00001
NM_003977.4(AIP):c.986C>T (p.Ser329Phe) rs764765680 0.00001
NC_000011.9:g.(?_67250360)_(67258464_?)dup
NC_000011.9:g.(?_67250630)_(67250738_?)dup
NC_000011.9:g.(?_67250630)_(67258464_?)dup
NC_000011.9:g.(?_67254459)_(67254666_?)del
NC_000011.9:g.(?_67254459)_(67258464_?)dup
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-2G>A
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-85C>T rs1565180279
NM_003977.4(AIP):c.10A>G (p.Ile4Val) rs1865725901
NM_003977.4(AIP):c.10A>T (p.Ile4Phe) rs1865725901
NM_003977.4(AIP):c.11T>C (p.Ile4Thr)
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.16G>T (p.Ala6Ser)
NM_003977.4(AIP):c.17C>A (p.Ala6Glu)
NM_003977.4(AIP):c.17C>T (p.Ala6Val)
NM_003977.4(AIP):c.25C>T (p.Arg9Trp) rs1057523115
NM_003977.4(AIP):c.26G>T (p.Arg9Leu)
NM_003977.4(AIP):c.272A>G (p.Asp91Gly) rs1591042829
NM_003977.4(AIP):c.273C>A (p.Asp91Glu)
NM_003977.4(AIP):c.274A>G (p.Ile92Val) rs1202522544
NM_003977.4(AIP):c.275T>C (p.Ile92Thr) rs2134251332
NM_003977.4(AIP):c.277A>G (p.Lys93Glu) rs2134251336
NM_003977.4(AIP):c.279+4T>C
NM_003977.4(AIP):c.279+5C>G
NM_003977.4(AIP):c.279+6_279+9del rs1179492033
NM_003977.4(AIP):c.279G>A (p.Lys93=)
NM_003977.4(AIP):c.280-3C>A
NM_003977.4(AIP):c.280-5C>A rs907846305
NM_003977.4(AIP):c.280-6C>A
NM_003977.4(AIP):c.283G>A (p.Val95Met)
NM_003977.4(AIP):c.283G>T (p.Val95Leu)
NM_003977.4(AIP):c.286G>A (p.Val96Ile)
NM_003977.4(AIP):c.28G>A (p.Glu10Lys)
NM_003977.4(AIP):c.298C>G (p.Leu100Val)
NM_003977.4(AIP):c.29A>G (p.Glu10Gly) rs2134247661
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.305_331del (p.Ala102_Val110del)
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.317G>T (p.Arg106Leu) rs373950586
NM_003977.4(AIP):c.31G>T (p.Asp11Tyr)
NM_003977.4(AIP):c.320A>T (p.Asn107Ile)
NM_003977.4(AIP):c.321C>G (p.Asn107Lys) rs901955664
NM_003977.4(AIP):c.324C>G (p.Ile108Met) rs376808382
NM_003977.4(AIP):c.325G>C (p.Ala109Pro)
NM_003977.4(AIP):c.328G>A (p.Val110Met) rs1591044731
NM_003977.4(AIP):c.332G>A (p.Gly111Asp)
NM_003977.4(AIP):c.335A>G (p.Lys112Arg) rs1865848964
NM_003977.4(AIP):c.339C>A (p.Asp113Glu)
NM_003977.4(AIP):c.33C>G (p.Asp11Glu)
NM_003977.4(AIP):c.340C>T (p.Pro114Ser) rs1188978575
NM_003977.4(AIP):c.341C>A (p.Pro114His) rs1865849163
NM_003977.4(AIP):c.346G>A (p.Glu116Lys) rs2134253374
NM_003977.4(AIP):c.347A>C (p.Glu116Ala)
NM_003977.4(AIP):c.347A>G (p.Glu116Gly)
NM_003977.4(AIP):c.34G>A (p.Gly12Arg)
NM_003977.4(AIP):c.350G>A (p.Gly117Asp)
NM_003977.4(AIP):c.353A>C (p.Gln118Pro)
NM_003977.4(AIP):c.358C>T (p.His120Tyr)
NM_003977.4(AIP):c.359A>C (p.His120Pro)
NM_003977.4(AIP):c.35G>C (p.Gly12Ala)
NM_003977.4(AIP):c.361T>C (p.Cys121Arg)
NM_003977.4(AIP):c.368G>A (p.Gly123Asp)
NM_003977.4(AIP):c.368G>C (p.Gly123Ala)
NM_003977.4(AIP):c.36G>T (p.Gly12=) rs79662690
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.37A>G (p.Ile13Val) rs1865726668
NM_003977.4(AIP):c.383G>C (p.Arg128Pro)
NM_003977.4(AIP):c.388C>T (p.His130Tyr)
NM_003977.4(AIP):c.389A>C (p.His130Pro)
NM_003977.4(AIP):c.38T>A (p.Ile13Asn) rs376913545
NM_003977.4(AIP):c.391A>G (p.Ser131Gly) rs1015608491
NM_003977.4(AIP):c.397C>A (p.Leu133Met)
NM_003977.4(AIP):c.398T>C (p.Leu133Pro)
NM_003977.4(AIP):c.406G>A (p.Ala136Thr) rs775549178
NM_003977.4(AIP):c.415G>C (p.Asp139His)
NM_003977.4(AIP):c.417C>G (p.Asp139Glu) rs149570102
NM_003977.4(AIP):c.418G>A (p.Ala140Thr) rs751771656
NM_003977.4(AIP):c.427C>G (p.Gln143Glu)
NM_003977.4(AIP):c.433C>G (p.Pro145Ala) rs1865853260
NM_003977.4(AIP):c.433C>T (p.Pro145Ser) rs1865853260
NM_003977.4(AIP):c.434C>A (p.Pro145His)
NM_003977.4(AIP):c.434C>T (p.Pro145Leu)
NM_003977.4(AIP):c.436C>G (p.Gln146Glu)
NM_003977.4(AIP):c.437A>C (p.Gln146Pro)
NM_003977.4(AIP):c.437A>G (p.Gln146Arg)
NM_003977.4(AIP):c.439C>A (p.Pro147Thr)
NM_003977.4(AIP):c.439C>T (p.Pro147Ser) rs2134253545
NM_003977.4(AIP):c.440C>T (p.Pro147Leu)
NM_003977.4(AIP):c.445A>G (p.Ile149Val) rs1865853604
NM_003977.4(AIP):c.448T>C (p.Phe150Leu) rs1865853767
NM_003977.4(AIP):c.454A>T (p.Met152Leu)
NM_003977.4(AIP):c.455T>G (p.Met152Arg)
NM_003977.4(AIP):c.456G>A (p.Met152Ile)
NM_003977.4(AIP):c.457G>A (p.Glu153Lys)
NM_003977.4(AIP):c.458A>G (p.Glu153Gly) rs2134253575
NM_003977.4(AIP):c.459G>T (p.Glu153Asp) rs2134253579
NM_003977.4(AIP):c.45A>T (p.Lys15Asn)
NM_003977.4(AIP):c.464T>G (p.Leu155Arg) rs2134253589
NM_003977.4(AIP):c.466_467delinsGC (p.Lys156Ala) rs2134253594
NM_003977.4(AIP):c.469-3C>T
NM_003977.4(AIP):c.469G>A (p.Val157Met)
NM_003977.4(AIP):c.470T>A (p.Val157Glu)
NM_003977.4(AIP):c.474G>C (p.Glu158Asp)
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.477C>A (p.Ser159Arg) rs1360672946
NM_003977.4(AIP):c.478C>A (p.Pro160Thr) rs1865868625
NM_003977.4(AIP):c.478C>T (p.Pro160Ser) rs1865868625
NM_003977.4(AIP):c.479C>G (p.Pro160Arg)
NM_003977.4(AIP):c.481G>A (p.Gly161Ser) rs939893450
NM_003977.4(AIP):c.481G>C (p.Gly161Arg)
NM_003977.4(AIP):c.482G>C (p.Gly161Ala)
NM_003977.4(AIP):c.484A>G (p.Thr162Ala)
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.496G>A (p.Asp166Asn)
NM_003977.4(AIP):c.497A>T (p.Asp166Val) rs2134254587
NM_003977.4(AIP):c.4G>C (p.Ala2Pro) rs1591039762
NM_003977.4(AIP):c.502T>C (p.Trp168Arg)
NM_003977.4(AIP):c.502T>G (p.Trp168Gly)
NM_003977.4(AIP):c.510G>A (p.Met170Ile)
NM_003977.4(AIP):c.511A>G (p.Thr171Ala) rs2134254626
NM_003977.4(AIP):c.512C>G (p.Thr171Arg)
NM_003977.4(AIP):c.512C>T (p.Thr171Ile) rs1287485768
NM_003977.4(AIP):c.520G>C (p.Glu174Gln)
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.526G>A (p.Ala176Thr) rs1591045889
NM_003977.4(AIP):c.533C>T (p.Ala178Val) rs763723045
NM_003977.4(AIP):c.538C>T (p.Pro180Ser) rs2134254712
NM_003977.4(AIP):c.539C>A (p.Pro180Gln)
NM_003977.4(AIP):c.539C>T (p.Pro180Leu) rs1865871178
NM_003977.4(AIP):c.53T>C (p.Ile18Thr) rs773224238
NM_003977.4(AIP):c.541C>T (p.Leu181Phe) rs1565183490
NM_003977.4(AIP):c.542T>G (p.Leu181Arg) rs1379754372
NM_003977.4(AIP):c.544A>G (p.Ile182Val)
NM_003977.4(AIP):c.544A>T (p.Ile182Phe)
NM_003977.4(AIP):c.550C>A (p.Gln184Lys)
NM_003977.4(AIP):c.553G>A (p.Glu185Lys) rs925348950
NM_003977.4(AIP):c.557G>A (p.Gly186Asp)
NM_003977.4(AIP):c.567G>C (p.Leu189Phe) rs750243392
NM_003977.4(AIP):c.567G>T (p.Leu189Phe) rs750243392
NM_003977.4(AIP):c.56A>G (p.Gln19Arg) rs2134247725
NM_003977.4(AIP):c.572G>T (p.Arg191Leu)
NM_003977.4(AIP):c.57G>C (p.Gln19His) rs2134247730
NM_003977.4(AIP):c.587A>C (p.Lys196Thr) rs1865873957
NM_003977.4(AIP):c.587A>G (p.Lys196Arg)
NM_003977.4(AIP):c.58G>A (p.Glu20Lys)
NM_003977.4(AIP):c.590A>G (p.Glu197Gly)
NM_003977.4(AIP):c.591G>T (p.Glu197Asp) rs202006716
NM_003977.4(AIP):c.595G>C (p.Ala199Pro) rs1865874165
NM_003977.4(AIP):c.59A>G (p.Glu20Gly)
NM_003977.4(AIP):c.5C>G (p.Ala2Gly)
NM_003977.4(AIP):c.601A>C (p.Lys201Gln)
NM_003977.4(AIP):c.602A>G (p.Lys201Arg) rs1865874360
NM_003977.4(AIP):c.607T>C (p.Tyr203His)
NM_003977.4(AIP):c.607T>G (p.Tyr203Asp) rs2134254920
NM_003977.4(AIP):c.608A>G (p.Tyr203Cys)
NM_003977.4(AIP):c.610G>A (p.Asp204Asn)
NM_003977.4(AIP):c.610G>C (p.Asp204His)
NM_003977.4(AIP):c.611A>G (p.Asp204Gly) rs1865874602
NM_003977.4(AIP):c.614C>G (p.Ala205Gly)
NM_003977.4(AIP):c.617T>C (p.Ile206Thr)
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
NM_003977.4(AIP):c.61G>A (p.Gly21Ser)
NM_003977.4(AIP):c.620C>T (p.Ala207Val)
NM_003977.4(AIP):c.628A>C (p.Lys210Gln)
NM_003977.4(AIP):c.62G>A (p.Gly21Asp)
NM_003977.4(AIP):c.62G>C (p.Gly21Ala) rs1865727360
NM_003977.4(AIP):c.630G>A (p.Lys210=) rs937672207
NM_003977.4(AIP):c.631A>G (p.Asn211Asp)
NM_003977.4(AIP):c.631A>T (p.Asn211Tyr)
NM_003977.4(AIP):c.633C>G (p.Asn211Lys) rs969728952
NM_003977.4(AIP):c.641T>C (p.Met214Thr)
NM_003977.4(AIP):c.641T>G (p.Met214Arg)
NM_003977.4(AIP):c.641_643del (p.Met214del)
NM_003977.4(AIP):c.644A>C (p.Lys215Thr)
NM_003977.4(AIP):c.645+2T>C rs1293512916
NM_003977.4(AIP):c.645+6G>A rs1865875560
NM_003977.4(AIP):c.645G>C (p.Lys215Asn)
NM_003977.4(AIP):c.649C>A (p.Gln217Lys)
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
NM_003977.4(AIP):c.650A>G (p.Gln217Arg) rs1865878548
NM_003977.4(AIP):c.651G>C (p.Gln217His) rs2134255259
NM_003977.4(AIP):c.659C>T (p.Ser220Phe) rs1488470719
NM_003977.4(AIP):c.65G>A (p.Arg22Gln)
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.661C>T (p.Pro221Ser) rs1309976810
NM_003977.4(AIP):c.662C>T (p.Pro221Leu) rs1426023503
NM_003977.4(AIP):c.664G>A (p.Glu222Lys)
NM_003977.4(AIP):c.668G>C (p.Trp223Ser) rs2134255281
NM_003977.4(AIP):c.670A>G (p.Ile224Val)
NM_003977.4(AIP):c.672C>G (p.Ile224Met)
NM_003977.4(AIP):c.676C>G (p.Leu226Val)
NM_003977.4(AIP):c.682C>G (p.Gln228Glu)
NM_003977.4(AIP):c.685C>G (p.Gln229Glu) rs1400972107
NM_003977.4(AIP):c.692CGC[3] (p.Pro232_Leu233insPro)
NM_003977.4(AIP):c.694C>T (p.Pro232Ser) rs2134255355
NM_003977.4(AIP):c.698T>C (p.Leu233Pro)
NM_003977.4(AIP):c.703C>A (p.Leu235Ile)
NM_003977.4(AIP):c.707A>G (p.Asn236Ser)
NM_003977.4(AIP):c.70G>A (p.Glu24Lys)
NM_003977.4(AIP):c.710A>G (p.Tyr237Cys) rs1591046437
NM_003977.4(AIP):c.718T>C (p.Cys240Arg)
NM_003977.4(AIP):c.719G>A (p.Cys240Tyr) rs2134255464
NM_003977.4(AIP):c.719G>C (p.Cys240Ser)
NM_003977.4(AIP):c.726_727delinsAA (p.Val243Met)
NM_003977.4(AIP):c.727G>C (p.Val243Leu) rs1385147597
NM_003977.4(AIP):c.733G>C (p.Glu245Gln)
NM_003977.4(AIP):c.733GAG[1] (p.Glu246del)
NM_003977.4(AIP):c.738G>T (p.Glu246Asp)
NM_003977.4(AIP):c.73C>G (p.Leu25Val)
NM_003977.4(AIP):c.740A>T (p.Tyr247Phe)
NM_003977.4(AIP):c.742T>C (p.Tyr248His)
NM_003977.4(AIP):c.745G>C (p.Glu249Gln)
NM_003977.4(AIP):c.748G>C (p.Val250Leu)
NM_003977.4(AIP):c.751C>G (p.Leu251Val)
NM_003977.4(AIP):c.757C>T (p.His253Tyr)
NM_003977.4(AIP):c.759C>G (p.His253Gln)
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.76C>G (p.Pro26Ala)
NM_003977.4(AIP):c.770T>G (p.Ile257Ser)
NM_003977.4(AIP):c.772C>T (p.Leu258Phe) rs779315334
NM_003977.4(AIP):c.776A>G (p.Asn259Ser) rs2134255605
NM_003977.4(AIP):c.777C>G (p.Asn259Lys)
NM_003977.4(AIP):c.77C>G (p.Pro26Arg) rs2134247769
NM_003977.4(AIP):c.77C>T (p.Pro26Leu)
NM_003977.4(AIP):c.780G>C (p.Lys260Asn) rs748587494
NM_003977.4(AIP):c.784GAC[1] (p.Asp263del) rs770434824
NM_003977.4(AIP):c.786C>A (p.Asp262Glu)
NM_003977.4(AIP):c.787+10G>A rs776322323
NM_003977.4(AIP):c.788-14G>A
NM_003977.4(AIP):c.788-4G>T rs1865892587
NM_003977.4(AIP):c.790A>G (p.Asn264Asp) rs2134256373
NM_003977.4(AIP):c.790_792del (p.Asn264del) rs760690172
NM_003977.4(AIP):c.791A>C (p.Asn264Thr)
NM_003977.4(AIP):c.793G>A (p.Val265Ile)
NM_003977.4(AIP):c.799G>A (p.Ala267Thr) rs2134256389
NM_003977.4(AIP):c.802T>C (p.Tyr268His)
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.805T>C (p.Phe269Leu)
NM_003977.4(AIP):c.807C>A (p.Phe269Leu)
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
NM_003977.4(AIP):c.809A>C (p.Lys270Thr)
NM_003977.4(AIP):c.80A>C (p.Asp27Ala)
NM_003977.4(AIP):c.812G>A (p.Arg271Gln) rs1448828883
NM_003977.4(AIP):c.814G>C (p.Gly272Arg)
NM_003977.4(AIP):c.818A>C (p.Lys273Thr)
NM_003977.4(AIP):c.81C>A (p.Asp27Glu)
NM_003977.4(AIP):c.820G>A (p.Ala274Thr) rs2134256437
NM_003977.4(AIP):c.820_821delinsTT (p.Ala274Phe)
NM_003977.4(AIP):c.821C>T (p.Ala274Val)
NM_003977.4(AIP):c.823C>T (p.His275Tyr)
NM_003977.4(AIP):c.826G>A (p.Ala276Thr) rs778575382
NM_003977.4(AIP):c.827C>G (p.Ala276Gly) rs61741147
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.82T>C (p.Phe28Leu)
NM_003977.4(AIP):c.830C>T (p.Ala277Val)
NM_003977.4(AIP):c.832G>T (p.Val278Leu) rs776652386
NM_003977.4(AIP):c.839A>G (p.Asn280Ser)
NM_003977.4(AIP):c.845A>G (p.Gln282Arg) rs2134256527
NM_003977.4(AIP):c.850G>A (p.Ala284Thr) rs1240656692
NM_003977.4(AIP):c.851C>G (p.Ala284Gly) rs2134256543
NM_003977.4(AIP):c.851C>T (p.Ala284Val) rs2134256543
NM_003977.4(AIP):c.855G>C (p.Gln285His) rs1591047322
NM_003977.4(AIP):c.856G>A (p.Ala286Thr) rs1344254895
NM_003977.4(AIP):c.857C>T (p.Ala286Val) rs775673977
NM_003977.4(AIP):c.85C>A (p.Gln29Lys)
NM_003977.4(AIP):c.85C>G (p.Gln29Glu)
NM_003977.4(AIP):c.865G>A (p.Ala289Thr) rs1591047341
NM_003977.4(AIP):c.866C>T (p.Ala289Val)
NM_003977.4(AIP):c.869A>G (p.Lys290Arg)
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.880C>A (p.Leu294Met)
NM_003977.4(AIP):c.884_889del (p.Asp295_Pro296del)
NM_003977.4(AIP):c.885C>A (p.Asp295Glu)
NM_003977.4(AIP):c.885C>G (p.Asp295Glu) rs1384518387
NM_003977.4(AIP):c.886C>G (p.Pro296Ala) rs1038039525
NM_003977.4(AIP):c.886C>T (p.Pro296Ser) rs1038039525
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_003977.4(AIP):c.887C>T (p.Pro296Leu)
NM_003977.4(AIP):c.889G>A (p.Ala297Thr)
NM_003977.4(AIP):c.88G>A (p.Asp30Asn)
NM_003977.4(AIP):c.893T>C (p.Leu298Pro) rs2134256667
NM_003977.4(AIP):c.895G>A (p.Ala299Thr)
NM_003977.4(AIP):c.898C>T (p.Pro300Ser)
NM_003977.4(AIP):c.899C>T (p.Pro300Leu) rs2134256678
NM_003977.4(AIP):c.89A>G (p.Asp30Gly) rs2134247808
NM_003977.4(AIP):c.901G>A (p.Val301Met)
NM_003977.4(AIP):c.905T>C (p.Val302Ala)
NM_003977.4(AIP):c.917T>C (p.Leu306Pro)
NM_003977.4(AIP):c.919C>A (p.Arg307=)
NM_003977.4(AIP):c.919C>G (p.Arg307Gly)
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003977.4(AIP):c.91G>C (p.Gly31Arg) rs2134247816
NM_003977.4(AIP):c.920G>C (p.Arg307Pro)
NM_003977.4(AIP):c.921G>C (p.Arg307=)
NM_003977.4(AIP):c.921G>T (p.Arg307=)
NM_003977.4(AIP):c.922G>A (p.Ala308Thr)
NM_003977.4(AIP):c.925C>G (p.Leu309Val)
NM_003977.4(AIP):c.926T>C (p.Leu309Pro)
NM_003977.4(AIP):c.928G>T (p.Glu310Ter)
NM_003977.4(AIP):c.929A>G (p.Glu310Gly)
NM_003977.4(AIP):c.92G>C (p.Gly31Ala) rs756887504
NM_003977.4(AIP):c.939C>G (p.Ile313Met)
NM_003977.4(AIP):c.941G>C (p.Arg314Pro)
NM_003977.4(AIP):c.946_948del (p.Lys316del) rs766251663
NM_003977.4(AIP):c.949G>C (p.Asp317His)
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
NM_003977.4(AIP):c.953A>T (p.Glu318Val) rs1865898395
NM_003977.4(AIP):c.958G>A (p.Asp320Asn)
NM_003977.4(AIP):c.958G>T (p.Asp320Tyr)
NM_003977.4(AIP):c.95C>A (p.Thr32Asn)
NM_003977.4(AIP):c.95C>G (p.Thr32Ser)
NM_003977.4(AIP):c.95C>T (p.Thr32Ile)
NM_003977.4(AIP):c.961A>G (p.Lys321Glu) rs1865898492
NM_003977.4(AIP):c.963A>T (p.Lys321Asn) rs1390104426
NM_003977.4(AIP):c.964G>A (p.Ala322Thr) rs768053422
NM_003977.4(AIP):c.967C>G (p.Arg323Gly) rs188965257
NM_003977.4(AIP):c.968G>A (p.Arg323Gln) rs2134256899
NM_003977.4(AIP):c.968G>T (p.Arg323Leu)
NM_003977.4(AIP):c.971T>G (p.Phe324Cys)
NM_003977.4(AIP):c.974G>C (p.Arg325Pro) rs754619109
NM_003977.4(AIP):c.976_977insC (p.Gly326fs) rs2134256942
NM_003977.4(AIP):c.979A>T (p.Ile327Phe) rs1591047599
NM_003977.4(AIP):c.980TCT[1] (p.Phe328del)
NM_003977.4(AIP):c.988C>T (p.His330Tyr)
NM_003977.4(AIP):c.989A>G (p.His330Arg)
NM_003977.4(AIP):c.98A>C (p.Lys33Thr)
NM_003977.4(AIP):c.98A>G (p.Lys33Arg)
NM_003977.4(AIP):c.99+4C>T rs2134247837
NM_003977.4(AIP):c.99+5G>A
NM_003977.4(AIP):c.99G>A (p.Lys33=) rs755881873

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