ClinVar Miner

List of variants in gene AIP reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 432
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199 0.99984
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081 0.84113
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020 0.03152
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586 0.00545
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.693G>A (p.Thr231=) rs141715817 0.00046
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
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.753G>A (p.Leu251=) rs147351993 0.00016
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418 0.00013
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.724C>G (p.Leu242Val) rs772782309 0.00008
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385 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.486G>A (p.Thr162=) rs555078670 0.00005
NM_003977.4(AIP):c.696G>A (p.Pro232=) rs780232812 0.00005
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.711C>T (p.Tyr237=) rs530134308 0.00004
NM_003977.4(AIP):c.786C>T (p.Asp262=) rs777095131 0.00004
NM_003977.4(AIP):c.828G>A (p.Ala276=) rs1203800623 0.00004
NM_003977.4(AIP):c.84T>C (p.Phe28=) rs371423932 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.573C>T (p.Arg191=) rs781545373 0.00003
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_003977.4(AIP):c.744C>T (p.Tyr248=) rs767453811 0.00003
NM_003977.4(AIP):c.831C>T (p.Ala277=) rs531331351 0.00003
NM_003977.4(AIP):c.834G>T (p.Val278=) rs745914221 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.285G>A (p.Val95=) rs774293360 0.00002
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061 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.40C>T (p.Gln14Ter) rs104894194 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.825C>T (p.His275=) rs556924640 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.280-4G>A rs749009337 0.00001
NM_003977.4(AIP):c.280-5C>T rs907846305 0.00001
NM_003977.4(AIP):c.291G>A (p.Leu97=) rs146865791 0.00001
NM_003977.4(AIP):c.296C>T (p.Pro99Leu) rs1388668435 0.00001
NM_003977.4(AIP):c.297G>A (p.Pro99=) rs767511957 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.327G>A (p.Ala109=) rs751946476 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.381G>A (p.Met127Ile) rs768435758 0.00001
NM_003977.4(AIP):c.393C>T (p.Ser131=) rs199558504 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.417C>T (p.Asp139=) rs149570102 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.46C>T (p.Arg16Cys) rs549056286 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.588G>A (p.Lys196=) rs1332301201 0.00001
NM_003977.4(AIP):c.634C>T (p.Leu212=) rs773865566 0.00001
NM_003977.4(AIP):c.63C>T (p.Gly21=) rs199913396 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.705C>G (p.Leu235=) rs1464580715 0.00001
NM_003977.4(AIP):c.716A>G (p.Gln239Arg) rs748710275 0.00001
NM_003977.4(AIP):c.720C>T (p.Cys240=) rs267606572 0.00001
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573 0.00001
NM_003977.4(AIP):c.72G>C (p.Glu24Asp) rs201958318 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.756C>T (p.Asp252=) rs766594200 0.00001
NM_003977.4(AIP):c.758A>G (p.His253Arg) rs1316077675 0.00001
NM_003977.4(AIP):c.768C>T (p.Ser256=) rs755320118 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.78G>A (p.Pro26=) rs776131484 0.00001
NM_003977.4(AIP):c.792C>T (p.Asn264=) rs780707460 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.832G>A (p.Val278Met) rs776652386 0.00001
NM_003977.4(AIP):c.874C>G (p.Leu292Val) rs764465139 0.00001
NM_003977.4(AIP):c.885C>T (p.Asp295=) rs1384518387 0.00001
NM_003977.4(AIP):c.88G>T (p.Asp30Tyr) rs1323103083 0.00001
NM_003977.4(AIP):c.897G>A (p.Ala299=) rs1452040699 0.00001
NM_003977.4(AIP):c.90T>C (p.Asp30=) rs374324200 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_003977.4(AIP):c.913G>A (p.Glu305Lys) rs923956036 0.00001
NM_003977.4(AIP):c.925C>T (p.Leu309=) rs747004653 0.00001
NM_003977.4(AIP):c.934C>T (p.Arg312Trp) rs769858610 0.00001
NM_003977.4(AIP):c.93G>T (p.Gly31=) rs371636632 0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585 0.00001
NM_003977.4(AIP):c.97A>G (p.Lys33Glu) rs750116890 0.00001
NM_003977.4(AIP):c.990T>C (p.His330=) rs752438976 0.00001
NM_003977.4(AIP):c.-2G>A
NM_003977.4(AIP):c.10A>G (p.Ile4Val) rs1865725901
NM_003977.4(AIP):c.12C>A (p.Ile4=) rs756870384
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.24C>G (p.Leu8=)
NM_003977.4(AIP):c.25C>T (p.Arg9Trp) rs1057523115
NM_003977.4(AIP):c.26G>T (p.Arg9Leu)
NM_003977.4(AIP):c.270T>C (p.Cys90=)
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.276C>T (p.Ile92=)
NM_003977.4(AIP):c.280-3C>A
NM_003977.4(AIP):c.283G>A (p.Val95Met)
NM_003977.4(AIP):c.283G>T (p.Val95Leu)
NM_003977.4(AIP):c.28G>A (p.Glu10Lys)
NM_003977.4(AIP):c.291G>T (p.Leu97=) rs146865791
NM_003977.4(AIP):c.298C>G (p.Leu100Val)
NM_003977.4(AIP):c.300G>C (p.Leu100=)
NM_003977.4(AIP):c.303G>A (p.Val101=)
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.30G>A (p.Glu10=) rs2134247667
NM_003977.4(AIP):c.318C>T (p.Arg106=) rs2134253298
NM_003977.4(AIP):c.31G>T (p.Asp11Tyr)
NM_003977.4(AIP):c.320A>T (p.Asn107Ile)
NM_003977.4(AIP):c.324C>T (p.Ile108=)
NM_003977.4(AIP):c.327G>T (p.Ala109=)
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.340C>T (p.Pro114Ser) rs1188978575
NM_003977.4(AIP):c.341C>A (p.Pro114His) rs1865849163
NM_003977.4(AIP):c.345G>A (p.Leu115=) rs996404334
NM_003977.4(AIP):c.347A>C (p.Glu116Ala)
NM_003977.4(AIP):c.347A>G (p.Glu116Gly)
NM_003977.4(AIP):c.348G>A (p.Glu116=) rs1865849370
NM_003977.4(AIP):c.353A>C (p.Gln118Pro)
NM_003977.4(AIP):c.357G>A (p.Arg119=)
NM_003977.4(AIP):c.357G>T (p.Arg119=)
NM_003977.4(AIP):c.358C>T (p.His120Tyr)
NM_003977.4(AIP):c.359A>C (p.His120Pro)
NM_003977.4(AIP):c.360C>T (p.His120=)
NM_003977.4(AIP):c.361_362del (p.Cys121fs)
NM_003977.4(AIP):c.363C>T (p.Cys121=)
NM_003977.4(AIP):c.368G>A (p.Gly123Asp)
NM_003977.4(AIP):c.36G>C (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.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.402C>T (p.Gly134=)
NM_003977.4(AIP):c.412C>T (p.Leu138=)
NM_003977.4(AIP):c.415G>C (p.Asp139His)
NM_003977.4(AIP):c.417C>G (p.Asp139Glu) rs149570102
NM_003977.4(AIP):c.426G>A (p.Gln142=) rs767830212
NM_003977.4(AIP):c.432C>T (p.Asn144=) rs1477351148
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.435C>G (p.Pro145=)
NM_003977.4(AIP):c.435C>T (p.Pro145=)
NM_003977.4(AIP):c.437A>C (p.Gln146Pro)
NM_003977.4(AIP):c.440C>T (p.Pro147Leu)
NM_003977.4(AIP):c.445A>G (p.Ile149Val) rs1865853604
NM_003977.4(AIP):c.447C>T (p.Ile149=) rs1591044934
NM_003977.4(AIP):c.457G>A (p.Glu153Lys)
NM_003977.4(AIP):c.45A>G (p.Lys15=)
NM_003977.4(AIP):c.465G>A (p.Leu155=)
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>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.481G>C (p.Gly161Arg)
NM_003977.4(AIP):c.482G>C (p.Gly161Ala)
NM_003977.4(AIP):c.483C>G (p.Gly161=) rs2134254546
NM_003977.4(AIP):c.483C>T (p.Gly161=)
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.486G>C (p.Thr162=)
NM_003977.4(AIP):c.48T>C (p.Arg16=)
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
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.501A>C (p.Pro167=)
NM_003977.4(AIP):c.501A>G (p.Pro167=) rs1443436644
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.512C>G (p.Thr171Arg)
NM_003977.4(AIP):c.519A>G (p.Glu173=)
NM_003977.4(AIP):c.520G>C (p.Glu174Gln)
NM_003977.4(AIP):c.525G>A (p.Lys175=)
NM_003977.4(AIP):c.526G>A (p.Ala176Thr) rs1591045889
NM_003977.4(AIP):c.528A>T (p.Ala176=)
NM_003977.4(AIP):c.531G>A (p.Lys177=)
NM_003977.4(AIP):c.533C>T (p.Ala178Val) rs763723045
NM_003977.4(AIP):c.534A>G (p.Ala178=) rs946777819
NM_003977.4(AIP):c.537G>C (p.Val179=)
NM_003977.4(AIP):c.537G>T (p.Val179=)
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.540A>C (p.Pro180=)
NM_003977.4(AIP):c.540A>T (p.Pro180=)
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.546C>T (p.Ile182=)
NM_003977.4(AIP):c.549C>T (p.His183=)
NM_003977.4(AIP):c.553G>A (p.Glu185Lys) rs925348950
NM_003977.4(AIP):c.557G>A (p.Gly186Asp)
NM_003977.4(AIP):c.558C>G (p.Gly186=)
NM_003977.4(AIP):c.567G>A (p.Leu189=) rs750243392
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.570C>T (p.Tyr190=)
NM_003977.4(AIP):c.572G>T (p.Arg191Leu)
NM_003977.4(AIP):c.573C>G (p.Arg191=) rs781545373
NM_003977.4(AIP):c.579G>A (p.Gly193=)
NM_003977.4(AIP):c.57G>A (p.Gln19=) rs2134247730
NM_003977.4(AIP):c.582T>C (p.His194=)
NM_003977.4(AIP):c.587A>C (p.Lys196Thr) rs1865873957
NM_003977.4(AIP):c.587A>G (p.Lys196Arg)
NM_003977.4(AIP):c.594T>G (p.Ala198=)
NM_003977.4(AIP):c.5C>G (p.Ala2Gly)
NM_003977.4(AIP):c.601A>C (p.Lys201Gln)
NM_003977.4(AIP):c.606C>G (p.Tyr202Ter)
NM_003977.4(AIP):c.608A>G (p.Tyr203Cys)
NM_003977.4(AIP):c.610G>A (p.Asp204Asn)
NM_003977.4(AIP):c.614C>G (p.Ala205Gly)
NM_003977.4(AIP):c.615C>T (p.Ala205=)
NM_003977.4(AIP):c.617T>C (p.Ile206Thr)
NM_003977.4(AIP):c.621C>A (p.Ala207=)
NM_003977.4(AIP):c.621C>T (p.Ala207=)
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.631A>G (p.Asn211Asp)
NM_003977.4(AIP):c.631A>T (p.Asn211Tyr)
NM_003977.4(AIP):c.641T>C (p.Met214Thr)
NM_003977.4(AIP):c.641T>G (p.Met214Arg)
NM_003977.4(AIP):c.643A>T (p.Lys215Ter) rs1591046113
NM_003977.4(AIP):c.644A>C (p.Lys215Thr)
NM_003977.4(AIP):c.645+2T>C rs1293512916
NM_003977.4(AIP):c.649C>A (p.Gln217Lys)
NM_003977.4(AIP):c.64C>A (p.Arg22=)
NM_003977.4(AIP):c.651G>A (p.Gln217=)
NM_003977.4(AIP):c.657G>T (p.Gly219=)
NM_003977.4(AIP):c.662C>T (p.Pro221Leu) rs1426023503
NM_003977.4(AIP):c.664G>A (p.Glu222Lys)
NM_003977.4(AIP):c.670A>G (p.Ile224Val)
NM_003977.4(AIP):c.672C>A (p.Ile224=)
NM_003977.4(AIP):c.675G>A (p.Gln225=) rs759338901
NM_003977.4(AIP):c.676C>G (p.Leu226Val)
NM_003977.4(AIP):c.682C>G (p.Gln228Glu)
NM_003977.4(AIP):c.682_684delinsAAA (p.Gln228Lys)
NM_003977.4(AIP):c.684G>A (p.Gln228=) rs1365555914
NM_003977.4(AIP):c.685C>G (p.Gln229Glu) rs1400972107
NM_003977.4(AIP):c.697C>T (p.Leu233=)
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.710A>G (p.Tyr237Cys) rs1591046437
NM_003977.4(AIP):c.718T>C (p.Cys240Arg)
NM_003977.4(AIP):c.719G>C (p.Cys240Ser)
NM_003977.4(AIP):c.723G>A (p.Lys241=)
NM_003977.4(AIP):c.726G>A (p.Leu242=) rs2134255485
NM_003977.4(AIP):c.726G>C (p.Leu242=) rs2134255485
NM_003977.4(AIP):c.732C>G (p.Val244=)
NM_003977.4(AIP):c.732C>T (p.Val244=) rs770634613
NM_003977.4(AIP):c.738G>A (p.Glu246=)
NM_003977.4(AIP):c.738G>T (p.Glu246Asp)
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.747G>A (p.Glu249=)
NM_003977.4(AIP):c.750G>C (p.Val250=)
NM_003977.4(AIP):c.751C>G (p.Leu251Val)
NM_003977.4(AIP):c.753G>T (p.Leu251=)
NM_003977.4(AIP):c.759C>G (p.His253Gln)
NM_003977.4(AIP):c.75C>A (p.Leu25=)
NM_003977.4(AIP):c.774C>A (p.Leu258=)
NM_003977.4(AIP):c.780G>A (p.Lys260=) rs748587494
NM_003977.4(AIP):c.780G>C (p.Lys260Asn) rs748587494
NM_003977.4(AIP):c.783C>G (p.Tyr261Ter)
NM_003977.4(AIP):c.784GAC[1] (p.Asp263del) rs770434824
NM_003977.4(AIP):c.78G>T (p.Pro26=)
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.795C>G (p.Val265=)
NM_003977.4(AIP):c.801C>T (p.Ala267=) rs1386796386
NM_003977.4(AIP):c.802T>C (p.Tyr268His)
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.804C>T (p.Tyr268=) rs121908356
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.809A>C (p.Lys270Thr)
NM_003977.4(AIP):c.80A>C (p.Asp27Ala)
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.812G>A (p.Arg271Gln) rs1448828883
NM_003977.4(AIP):c.814G>C (p.Gly272Arg)
NM_003977.4(AIP):c.816C>T (p.Gly272=)
NM_003977.4(AIP):c.818A>C (p.Lys273Thr)
NM_003977.4(AIP):c.819G>A (p.Lys273=)
NM_003977.4(AIP):c.81C>A (p.Asp27Glu)
NM_003977.4(AIP):c.81C>T (p.Asp27=)
NM_003977.4(AIP):c.820G>A (p.Ala274Thr) rs2134256437
NM_003977.4(AIP):c.821C>T (p.Ala274Val)
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.82T>C (p.Phe28Leu)
NM_003977.4(AIP):c.830C>T (p.Ala277Val)
NM_003977.4(AIP):c.834G>A (p.Val278=) rs745914221
NM_003977.4(AIP):c.845A>G (p.Gln282Arg) rs2134256527
NM_003977.4(AIP):c.851C>G (p.Ala284Gly) rs2134256543
NM_003977.4(AIP):c.852C>T (p.Ala284=)
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.87A>G (p.Gln29=)
NM_003977.4(AIP):c.880C>A (p.Leu294Met)
NM_003977.4(AIP):c.885C>G (p.Asp295Glu) rs1384518387
NM_003977.4(AIP):c.886C>T (p.Pro296Ser) rs1038039525
NM_003977.4(AIP):c.889G>A (p.Ala297Thr)
NM_003977.4(AIP):c.891C>T (p.Ala297=) rs35665586
NM_003977.4(AIP):c.895G>A (p.Ala299Thr)
NM_003977.4(AIP):c.898C>T (p.Pro300Ser)
NM_003977.4(AIP):c.901G>A (p.Val301Met)
NM_003977.4(AIP):c.903G>A (p.Val301=)
NM_003977.4(AIP):c.903G>T (p.Val301=) rs554226457
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.921G>A (p.Arg307=)
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.924C>G (p.Ala308=)
NM_003977.4(AIP):c.929A>G (p.Glu310Gly)
NM_003977.4(AIP):c.92G>C (p.Gly31Ala) rs756887504
NM_003977.4(AIP):c.933A>C (p.Ala311=)
NM_003977.4(AIP):c.933A>G (p.Ala311=) rs1865897525
NM_003977.4(AIP):c.933A>T (p.Ala311=)
NM_003977.4(AIP):c.934C>A (p.Arg312=)
NM_003977.4(AIP):c.936G>A (p.Arg312=) rs1377925060
NM_003977.4(AIP):c.939C>G (p.Ile313Met)
NM_003977.4(AIP):c.93G>A (p.Gly31=) rs371636632
NM_003977.4(AIP):c.941G>C (p.Arg314Pro)
NM_003977.4(AIP):c.945G>A (p.Gln315=)
NM_003977.4(AIP):c.946_948del (p.Lys316del) rs766251663
NM_003977.4(AIP):c.948G>A (p.Lys316=)
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.951C>T (p.Asp317=) rs138814192
NM_003977.4(AIP):c.954A>G (p.Glu318=)
NM_003977.4(AIP):c.95C>A (p.Thr32Asn)
NM_003977.4(AIP):c.95C>T (p.Thr32Ile)
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.966C>A (p.Ala322=) rs1225769221
NM_003977.4(AIP):c.966C>T (p.Ala322=)
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.973C>A (p.Arg325=) rs765927395
NM_003977.4(AIP):c.975G>T (p.Arg325=)
NM_003977.4(AIP):c.978G>A (p.Gly326=)
NM_003977.4(AIP):c.979A>T (p.Ile327Phe) rs1591047599
NM_003977.4(AIP):c.981C>T (p.Ile327=)
NM_003977.4(AIP):c.984C>T (p.Phe328=) rs2134256960
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.9T>C (p.Asp3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.