ClinVar Miner

List of variants in gene INSR

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 643
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_000208.4(INSR):c.100+243G>A rs10427109 0.96337
NM_000208.4(INSR):c.2030-73T>G rs72996158 0.96270
NM_000208.4(INSR):c.2843-121T>C rs2860173 0.93710
NM_000208.4(INSR):c.2683-242A>G rs1549616 0.92447
NM_000208.4(INSR):c.*104A>G rs1051690 0.83181
NM_000208.4(INSR):c.2267+90G>C rs2252673 0.74749
NM_000208.4(INSR):c.2030-68T>G rs62124500 0.67573
NM_000208.4(INSR):c.*2779G>A rs3745551 0.67433
NM_000208.4(INSR):c.3529+236C>A rs4031066 0.66325
NM_000208.4(INSR):c.3259-192A>T rs8103497 0.65893
NM_000208.4(INSR):c.1861+56T>C rs2059807 0.63217
NM_000208.4(INSR):c.2029+254A>G rs1808531 0.62180
NM_000208.4(INSR):c.2030-128del rs113402674 0.59055
NM_000208.4(INSR):c.1483+31T>C rs2860178 0.52842
NM_000208.4(INSR):c.1611-126T>C rs3815901 0.50205
NM_000208.4(INSR):c.3529+303G>A rs11085212 0.47034
NM_000208.4(INSR):c.3529+113del rs34073323 0.46704
NM_000208.4(INSR):c.3258+308G>A rs2288404 0.44561
NM_000208.4(INSR):c.653-175_653-174del rs67787836 0.41187
NM_000208.4(INSR):c.2030-88T>G rs564845387 0.39085
NM_000208.4(INSR):c.653-114T>C rs891088 0.32276
NM_000208.4(INSR):c.1483+43G>T rs7252268 0.31795
NM_000208.4(INSR):c.974+173T>C rs8112748 0.30553
NM_000208.4(INSR):c.*1494G>A rs3745550 0.27864
NM_000208.4(INSR):c.2030-206T>C rs112873578 0.27667
NM_000208.4(INSR):c.3795-85C>T rs11883202 0.27514
NM_000208.4(INSR):c.1862-20A>G rs2245648 0.26534
NM_000208.4(INSR):c.1124-311G>A rs45596032 0.24749
NM_000208.4(INSR):c.1610+264T>C rs1366235 0.24054
NM_000208.4(INSR):c.1610+28A>C rs2860177 0.24043
NM_000208.4(INSR):c.3530-306A>G rs4804069 0.23324
NM_000208.4(INSR):c.*784C>G rs1051651 0.22772
NM_000208.4(INSR):c.*4474C>T rs1052371 0.22677
NM_000208.3(INSR):c.*4802C>T rs12150997 0.22638
NM_000208.4(INSR):c.1861+27C>T rs3815902 0.21056
NM_000208.4(INSR):c.1610+162G>T rs1366234 0.20541
NM_000208.4(INSR):c.2683-302A>G rs77017193 0.20520
NM_000208.4(INSR):c.974+89C>T rs6510959 0.20430
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_000208.4(INSR):c.1861+129G>T rs62124510 0.16157
NM_000208.4(INSR):c.2842+88G>A rs2860175 0.16006
NM_000208.4(INSR):c.1123+309C>T rs11085213 0.15726
NM_000208.4(INSR):c.1611-282C>T rs62124511 0.15624
NM_000208.4(INSR):c.1268+92G>A rs8113777 0.14826
NM_000208.4(INSR):c.653-153G>A rs17253937 0.14270
NM_000208.4(INSR):c.653-73G>A rs13306455 0.13890
NM_000208.4(INSR):c.974+84G>C rs41315074 0.13443
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655 0.12535
NM_000208.4(INSR):c.1862-116A>G rs2352953 0.12532
NM_000208.4(INSR):c.1862-4A>G rs2245649 0.12510
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963 0.12510
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_000208.4(INSR):c.1861+159A>G rs78301545 0.11596
NM_000208.4(INSR):c.1861+151A>G rs78248456 0.10972
NM_000208.4(INSR):c.*2854G>T rs1864193 0.10584
NM_000208.4(INSR):c.*4422G>T rs12642 0.10462
NM_000208.4(INSR):c.*2010G>A rs55972112 0.10448
NM_000208.4(INSR):c.2843-99C>A rs13306446 0.09596
NM_000208.4(INSR):c.3660-64G>A rs13306448 0.09135
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431 0.08453
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_000208.4(INSR):c.3659+251T>C rs1529448 0.08211
NM_000208.4(INSR):c.3660-189C>T rs62124489 0.07724
NM_000208.4(INSR):c.3660-57C>T rs184752862 0.07712
NM_000208.4(INSR):c.3660-59C>T rs187956009 0.07392
NM_000208.4(INSR):c.1483+171G>A rs62124512 0.07243
NM_000208.4(INSR):c.*4195T>C rs1366601 0.06149
NM_000208.4(INSR):c.*4186T>C rs1366600 0.06049
NM_000208.4(INSR):c.2542+129G>A rs112122628 0.04855
NM_000208.4(INSR):c.2682+183C>A rs73498780 0.04841
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_000208.4(INSR):c.*3029T>C rs72988602 0.04550
NM_000208.4(INSR):c.2267+17C>T rs41509747 0.04450
NM_000208.4(INSR):c.1124-81G>T rs41412545 0.04051
NM_000208.4(INSR):c.975-279A>G rs145337171 0.03929
NM_000208.4(INSR):c.2231+20C>A rs6413502 0.03725
NM_000208.4(INSR):c.2231+34G>A rs3745548 0.03596
NM_000208.4(INSR):c.1123+21G>A rs13306458 0.03006
NM_000208.4(INSR):c.1269-99C>T rs34970365 0.02911
NM_000208.4(INSR):c.1610+23C>T rs9676400 0.02818
NM_000208.4(INSR):c.1269-231A>G rs61311198 0.02722
NM_000208.4(INSR):c.*1974_*1975del rs148930499 0.02551
NM_000208.4(INSR):c.*224C>T rs2860171 0.02007
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_000208.4(INSR):c.2542+3A>G rs13306451 0.01900
NM_000208.4(INSR):c.2448G>A (p.Thr816=) rs2229434 0.01850
NM_000208.4(INSR):c.*1432C>T rs111557734 0.01814
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
NM_000208.4(INSR):c.*2793C>A rs9282760 0.01708
NM_000208.4(INSR):c.3795-5C>T rs78312382 0.01607
NM_000208.3(INSR):c.*4794T>C rs10415841 0.01406
NM_000208.4(INSR):c.*4218G>C rs10416396 0.01362
NM_000208.4(INSR):c.101-32C>T rs3745544 0.01353
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210 0.01346
NM_000208.4(INSR):c.653-9del rs754360103 0.01255
NM_000208.4(INSR):c.*2340A>G rs78987925 0.01226
NM_000208.4(INSR):c.*4602C>T rs10413914 0.01216
NM_000208.4(INSR):c.*3857C>T rs114405975 0.01204
NM_000208.4(INSR):c.*2519G>A rs114982195 0.01193
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000208.4(INSR):c.*2318G>A rs80330850 0.00953
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_000208.4(INSR):c.*3463A>G rs115358150 0.00928
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_000208.4(INSR):c.3259-31C>T rs148813626 0.00848
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000208.4(INSR):c.*2502A>G rs149795309 0.00665
NM_000208.4(INSR):c.*1089A>G rs116422284 0.00664
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.*3786G>C rs115012090 0.00642
NM_000208.4(INSR):c.3370-15G>A rs41300628 0.00616
NM_000208.4(INSR):c.*498_*499insTT rs71775166 0.00598
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_000208.4(INSR):c.*501T>G rs562228680 0.00400
NM_000208.4(INSR):c.*2820G>A rs139376149 0.00394
NM_000208.4(INSR):c.*4270G>A rs74433419 0.00386
NM_000208.4(INSR):c.*1870C>G rs41315072 0.00376
NM_000208.4(INSR):c.*394del rs140291876 0.00350
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_000208.4(INSR):c.2355G>A (p.Ser785=) rs148137322 0.00285
NM_000208.4(INSR):c.*3298C>T rs184243377 0.00248
NM_000208.4(INSR):c.*1171C>T rs188386673 0.00225
NM_000208.4(INSR):c.*1917G>C rs186013503 0.00205
NM_000208.4(INSR):c.*4760G>A rs574836227 0.00186
NM_000208.4(INSR):c.-12G>C rs143135433 0.00186
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000208.4(INSR):c.*3009del rs140355086 0.00182
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000208.4(INSR):c.*2853T>C rs186288667 0.00143
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000208.4(INSR):c.*2464C>T rs181555180 0.00132
NM_000208.4(INSR):c.*356G>T rs1353247571 0.00128
NM_000208.4(INSR):c.2575C>T (p.His859Tyr) rs149536206 0.00123
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_000208.4(INSR):c.*4712T>C rs147343062 0.00096
NM_000208.4(INSR):c.*3894G>A rs184154294 0.00093
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000208.4(INSR):c.*2255T>G rs547131375 0.00071
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) rs148838377 0.00064
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000208.4(INSR):c.*2149C>T rs886054670 0.00052
NM_000208.4(INSR):c.*1116G>A rs146905190 0.00051
NM_000208.3(INSR):c.*4803G>A rs138569451 0.00048
NM_000208.4(INSR):c.1584G>A (p.Leu528=) rs145334760 0.00048
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_000208.4(INSR):c.2666G>A (p.Arg889Gln) rs187282966 0.00046
NM_000208.4(INSR):c.*1967G>A rs886054672 0.00044
NM_000208.4(INSR):c.*499G>T rs1173572474 0.00044
NM_000208.4(INSR):c.*2136T>A rs886054671 0.00043
NM_000208.4(INSR):c.*3359G>A rs146249924 0.00038
NM_000208.4(INSR):c.2293G>A (p.Gly765Ser) rs146698985 0.00036
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000208.4(INSR):c.1503A>G (p.Lys501=) rs9676819 0.00034
NM_000208.4(INSR):c.*1799C>T rs147080388 0.00033
NM_000208.4(INSR):c.3530-15C>A rs201189144 0.00031
NM_000208.4(INSR):c.*2565C>T rs117532686 0.00029
NM_000208.4(INSR):c.224A>G (p.Asp75Gly) rs142910337 0.00029
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795 0.00029
NM_000208.4(INSR):c.*1191T>C rs564677377 0.00026
NM_000208.4(INSR):c.3258+16G>A rs372761756 0.00026
NM_000208.4(INSR):c.*2456C>T rs145777450 0.00025
NM_000208.4(INSR):c.*3877T>C rs148660410 0.00025
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575 0.00025
NM_000208.4(INSR):c.888G>A (p.Ser296=) rs2229428 0.00024
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.2698G>A (p.Val900Ile) rs144029037 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000208.4(INSR):c.3615G>A (p.Pro1205=) rs146546375 0.00020
NM_000208.4(INSR):c.320C>T (p.Thr107Met) rs140762552 0.00019
NM_000208.4(INSR):c.*1573C>T rs549250341 0.00016
NM_000208.4(INSR):c.1191C>T (p.Ile397=) rs56135071 0.00015
NM_000208.4(INSR):c.2976C>T (p.Tyr992=) rs191756282 0.00015
NM_000208.4(INSR):c.3174G>A (p.Thr1058=) rs141582849 0.00015
NM_000208.4(INSR):c.*2160G>T rs570523460 0.00014
NM_000208.4(INSR):c.*613C>T rs779517721 0.00014
NM_000208.4(INSR):c.*87C>T rs749041393 0.00014
NM_000208.4(INSR):c.3228G>A (p.Ser1076=) rs768764179 0.00014
NM_000208.4(INSR):c.690C>T (p.Ala230=) rs373720760 0.00014
NM_000208.4(INSR):c.*1574G>A rs367868568 0.00013
NM_000208.4(INSR):c.*4696T>C rs546415055 0.00013
NM_000208.4(INSR):c.3591G>C (p.Leu1197=) rs776228235 0.00012
NM_000208.4(INSR):c.*1192G>A rs142596192 0.00011
NM_000208.4(INSR):c.*1584C>G rs535755401 0.00011
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000208.4(INSR):c.2766C>T (p.Ser922=) rs145713001 0.00011
NM_000208.4(INSR):c.*4374G>A rs886054660 0.00010
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690 0.00010
NM_000208.4(INSR):c.894G>A (p.Arg298=) rs757999365 0.00010
NM_000208.4(INSR):c.2081C>T (p.Ser694Phe) rs574155637 0.00009
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) rs142391704 0.00009
NM_000208.4(INSR):c.3102C>T (p.Phe1034=) rs143521418 0.00009
NM_000208.4(INSR):c.575G>A (p.Gly192Asp) rs143919163 0.00009
NM_000208.4(INSR):c.*97A>G rs1030133375 0.00008
NM_000208.4(INSR):c.*999A>G rs372034184 0.00008
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490 0.00008
NM_000208.4(INSR):c.2517C>T (p.Tyr839=) rs769481102 0.00008
NM_000208.4(INSR):c.2596G>A (p.Val866Ile) rs200110540 0.00008
NM_000208.4(INSR):c.2598C>T (p.Val866=) rs797045625 0.00008
NM_000208.4(INSR):c.2754G>A (p.Pro918=) rs148994508 0.00008
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_000208.4(INSR):c.*2568G>A rs973027799 0.00007
NM_000208.4(INSR):c.123G>T (p.Arg41=) rs372938158 0.00007
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000208.4(INSR):c.881A>G (p.Lys294Arg) rs201147780 0.00007
NM_000208.4(INSR):c.*1137A>G rs192753442 0.00006
NM_000208.4(INSR):c.*2023A>G rs754015320 0.00006
NM_000208.4(INSR):c.*2322G>A rs561917859 0.00006
NM_000208.4(INSR):c.*3019C>A rs1037171690 0.00006
NM_000208.4(INSR):c.1092C>T (p.Asn364=) rs779479343 0.00006
NM_000208.4(INSR):c.1203C>T (p.Tyr401=) rs76262811 0.00006
NM_000208.4(INSR):c.1268+5G>A rs762359047 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00006
NM_000208.4(INSR):c.221G>A (p.Arg74Gln) rs766295952 0.00006
NM_000208.4(INSR):c.2280A>G (p.Lys760=) rs373695282 0.00006
NM_000208.4(INSR):c.2361C>T (p.Ser787=) rs751613599 0.00006
NM_000208.4(INSR):c.2682+7C>T rs200618148 0.00006
NM_000208.4(INSR):c.2799C>T (p.Asn933=) rs113446125 0.00006
NM_000208.4(INSR):c.2853G>A (p.Pro951=) rs200564313 0.00006
NM_000208.4(INSR):c.3042C>T (p.Asp1014=) rs369686949 0.00006
NM_000208.4(INSR):c.3370-12T>G rs200201955 0.00006
NM_000208.4(INSR):c.*12G>A rs375751275 0.00005
NM_000208.4(INSR):c.1433G>A (p.Arg478His) rs750676016 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000208.4(INSR):c.3809G>A (p.Arg1270His) rs746000108 0.00005
NM_000208.4(INSR):c.*1001A>G rs766637171 0.00004
NM_000208.4(INSR):c.*1045C>T rs756351376 0.00004
NM_000208.4(INSR):c.*241G>A rs369919269 0.00004
NM_000208.4(INSR):c.*2475A>G rs1401575339 0.00004
NM_000208.4(INSR):c.-62C>T rs532052290 0.00004
NM_000208.4(INSR):c.1084G>A (p.Val362Ile) rs72549237 0.00004
NM_000208.4(INSR):c.1566C>T (p.Pro522=) rs546462100 0.00004
NM_000208.4(INSR):c.1671G>A (p.Thr557=) rs752643772 0.00004
NM_000208.4(INSR):c.2376G>A (p.Pro792=) rs529869522 0.00004
NM_000208.4(INSR):c.3111G>A (p.Val1037=) rs761203697 0.00004
NM_000208.4(INSR):c.578A>G (p.Lys193Arg) rs1365559678 0.00004
NM_000208.4(INSR):c.*1591C>T rs545450279 0.00003
NM_000208.4(INSR):c.*2014C>T rs556567528 0.00003
NM_000208.4(INSR):c.*3693G>A rs886054662 0.00003
NM_000208.4(INSR):c.*4379C>T rs886054659 0.00003
NM_000208.4(INSR):c.*4380G>A rs1016440018 0.00003
NM_000208.4(INSR):c.1050G>A (p.Ser350=) rs751541632 0.00003
NM_000208.4(INSR):c.2275C>T (p.Arg759Trp) rs752552480 0.00003
NM_000208.4(INSR):c.3571C>T (p.Arg1191Trp) rs886054686 0.00003
NM_000208.4(INSR):c.3805A>T (p.Met1269Leu) rs375197837 0.00003
NM_000208.4(INSR):c.386A>G (p.Lys129Arg) rs1310336610 0.00003
NM_000208.4(INSR):c.3876C>T (p.Asp1292=) rs781656016 0.00003
NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln) rs753624268 0.00003
NM_000208.4(INSR):c.*280G>A rs886054685 0.00002
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) rs777486535 0.00002
NM_000208.4(INSR):c.2030-3C>T rs766758560 0.00002
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.2319C>T (p.Ala773=) rs766008607 0.00002
NM_000208.4(INSR):c.261C>T (p.Tyr87=) rs145884847 0.00002
NM_000208.4(INSR):c.2842+4A>T rs369081376 0.00002
NM_000208.4(INSR):c.2842+6T>A rs767138526 0.00002
NM_000208.4(INSR):c.2848G>A (p.Val950Ile) rs139944962 0.00002
NM_000208.4(INSR):c.3158G>A (p.Arg1053His) rs748109926 0.00002
NM_000208.4(INSR):c.3324C>T (p.His1108=) rs202111071 0.00002
NM_000208.4(INSR):c.345C>T (p.Phe115=) rs374952799 0.00002
NM_000208.4(INSR):c.3529+5G>A rs764083259 0.00002
NM_000208.4(INSR):c.3669C>T (p.Gly1223=) rs750713967 0.00002
NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala) rs55875349 0.00002
NM_000208.4(INSR):c.707A>G (p.His236Arg) rs121913145 0.00002
NM_000208.4(INSR):c.*2405A>T rs886054669 0.00001
NM_000208.4(INSR):c.*2517A>G rs886054668 0.00001
NM_000208.4(INSR):c.*442G>T rs1325974020 0.00001
NM_000208.4(INSR):c.*926_*927insG rs886054676 0.00001
NM_000208.4(INSR):c.1056G>A (p.Thr352=) rs765176874 0.00001
NM_000208.4(INSR):c.1147G>A (p.Ala383Thr) rs543791069 0.00001
NM_000208.4(INSR):c.1151A>G (p.Asn384Ser) rs1419106670 0.00001
NM_000208.4(INSR):c.1156G>A (p.Gly386Ser) rs764221583 0.00001
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) rs121913151 0.00001
NM_000208.4(INSR):c.1246C>T (p.Arg416Ter) rs778989302 0.00001
NM_000208.4(INSR):c.1284T>C (p.Tyr428=) rs794727776 0.00001
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) rs121913136 0.00001
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser) rs121913147 0.00001
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.1610+2T>C rs797045624 0.00001
NM_000208.4(INSR):c.2268-3C>T rs750201666 0.00001
NM_000208.4(INSR):c.2276G>A (p.Arg759Gln) rs1460294044 0.00001
NM_000208.4(INSR):c.2325C>T (p.Pro775=) rs746508034 0.00001
NM_000208.4(INSR):c.2327C>T (p.Thr776Met) rs377048253 0.00001
NM_000208.4(INSR):c.2380G>A (p.Glu794Lys) rs376600434 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.2543-13C>T rs1187901881 0.00001
NM_000208.4(INSR):c.2564G>A (p.Gly855Asp) rs201667363 0.00001
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) rs182552223 0.00001
NM_000208.4(INSR):c.2960C>T (p.Pro987Leu) rs866193541 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) rs121913144 0.00001
NM_000208.4(INSR):c.3202C>T (p.Arg1068Trp) rs762687424 0.00001
NM_000208.4(INSR):c.3297G>A (p.Thr1099=) rs781555854 0.00001
NM_000208.4(INSR):c.3321T>C (p.Ala1107=) rs1337155856 0.00001
NM_000208.4(INSR):c.3383G>A (p.Arg1128His) rs202160383 0.00001
NM_000208.4(INSR):c.3501C>T (p.Val1167=) rs373794054 0.00001
NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln) rs121913150 0.00001
NM_000208.4(INSR):c.3614C>T (p.Pro1205Leu) rs1295645322 0.00001
NM_000208.4(INSR):c.3808C>T (p.Arg1270Cys) rs371841833 0.00001
NM_000208.4(INSR):c.3863A>G (p.Asn1288Ser) rs756542405 0.00001
NM_000208.4(INSR):c.3937G>A (p.Glu1313Lys) rs759636582 0.00001
NM_000208.4(INSR):c.3999G>A (p.Ser1333=) rs746489788 0.00001
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) rs13306449 0.00001
NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser) rs377701938 0.00001
NM_000208.4(INSR):c.474C>T (p.Ile158=) rs752803584 0.00001
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000208.4(INSR):c.756C>T (p.Cys252=) rs769511771 0.00001
GRCh37/hg19 19p13.2(chr19:7184327-7184648)x1
INSR, EX17, ALU
NC_000019.9:g.(?_7112275)_(7123001_7125293)dup
NC_000019.9:g.(?_7117067)_(7123020_?)dup
NG_008852.1:g.[135909G>T;8170_32961del24792]
NM_000208.2:c.[1465A>G;3160G>A]
NM_000208.2:c.[2504G>T;2525C>T]
NM_000208.2:c.[766C>T;2997T>G]
NM_000208.3(INSR):c.2683-542_2842+544del
NM_000208.4(INSR):c.*1067G>A rs141647996
NM_000208.4(INSR):c.*1190A>G rs1972310295
NM_000208.4(INSR):c.*130A>T rs571448308
NM_000208.4(INSR):c.*1416del rs3833238
NM_000208.4(INSR):c.*1525G>A rs886054674
NM_000208.4(INSR):c.*1592G>A rs886054673
NM_000208.4(INSR):c.*1831C>A rs111750247
NM_000208.4(INSR):c.*1831C>T rs111750247
NM_000208.4(INSR):c.*1909A>G rs989727643
NM_000208.4(INSR):c.*2102T>C rs1972287724
NM_000208.4(INSR):c.*2145_*2146dup rs57473640
NM_000208.4(INSR):c.*214G>A rs1972340823
NM_000208.4(INSR):c.*2633del rs532103296
NM_000208.4(INSR):c.*2752C>G rs577444458
NM_000208.4(INSR):c.*2752C>T rs577444458
NM_000208.4(INSR):c.*288del rs35434645
NM_000208.4(INSR):c.*289del rs886054684
NM_000208.4(INSR):c.*3008_*3009del rs1555733404
NM_000208.4(INSR):c.*3008del rs72149315
NM_000208.4(INSR):c.*3010del rs886054664
NM_000208.4(INSR):c.*3013C>G rs533582304
NM_000208.4(INSR):c.*302A>G rs1972337815
NM_000208.4(INSR):c.*3101C>G rs1474403993
NM_000208.4(INSR):c.*334C>T rs1016923782
NM_000208.4(INSR):c.*334del rs886054683
NM_000208.4(INSR):c.*3365C>A rs561270909
NM_000208.4(INSR):c.*3390CAA[4] rs886054663
NM_000208.4(INSR):c.*348_*355dup rs71177157
NM_000208.4(INSR):c.*349_*355dup rs71177157
NM_000208.4(INSR):c.*352_*355dup rs71177157
NM_000208.4(INSR):c.*355_*356del rs1491388964
NM_000208.4(INSR):c.*356_*357del rs1555733954
NM_000208.4(INSR):c.*358_*359insTTTTTT rs886054680
NM_000208.4(INSR):c.*3855C>G rs1233808516
NM_000208.4(INSR):c.*3858G>A rs912366991
NM_000208.4(INSR):c.*4349C>T rs886054661
NM_000208.4(INSR):c.*4376G>C rs1277836861
NM_000208.4(INSR):c.*4719dup rs543556010
NM_000208.4(INSR):c.*4736T>G rs886054658
NM_000208.4(INSR):c.*511del rs886054679
NM_000208.4(INSR):c.*541dup rs886054678
NM_000208.4(INSR):c.*743A>G rs1459964736
NM_000208.4(INSR):c.*853A>C rs886054677
NM_000208.4(INSR):c.*927_*928insG rs886054675
NM_000208.4(INSR):c.*930dup rs34045095
NM_000208.4(INSR):c.*959A>G rs988651664
NM_000208.4(INSR):c.*973dup rs547421118
NM_000208.4(INSR):c.1001C>T (p.Pro334Leu) rs373995681
NM_000208.4(INSR):c.101-19T>C
NM_000208.4(INSR):c.101-1G>A rs1568229439
NM_000208.4(INSR):c.101-2A>G rs2145210376
NM_000208.4(INSR):c.1032C>T (p.Gly344=)
NM_000208.4(INSR):c.1073G>A (p.Arg358Gln)
NM_000208.4(INSR):c.1093G>A (p.Gly365Arg)
NM_000208.4(INSR):c.1123+19G>A
NM_000208.4(INSR):c.1123+268TTTTTA[3] rs56082163
NM_000208.4(INSR):c.1123+4_1123+17del
NM_000208.4(INSR):c.1124-2A>G rs587776819
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) rs267607184
NM_000208.4(INSR):c.1179G>T (p.Gly393=) rs140573575
NM_000208.4(INSR):c.1225T>G (p.Phe409Val) rs121913142
NM_000208.4(INSR):c.1233G>A (p.Lys411=)
NM_000208.4(INSR):c.1238G>A (p.Arg413His)
NM_000208.4(INSR):c.1245T>A (p.Ile415=)
NM_000208.4(INSR):c.1252G>A (p.Glu418Lys)
NM_000208.4(INSR):c.1254G>C (p.Glu418Asp)
NM_000208.4(INSR):c.126C>A (p.Asn42Lys) rs121913143
NM_000208.4(INSR):c.1295A>G (p.Asn432Ser)
NM_000208.4(INSR):c.1305A>G (p.Leu435=) rs1463291322
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) rs121913158
NM_000208.4(INSR):c.1348C>T (p.Gln450Ter) rs2144950571
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) rs121913160
NM_000208.4(INSR):c.1377C>G (p.Pro459=)
NM_000208.4(INSR):c.1379A>C (p.Lys460Thr)
NM_000208.4(INSR):c.1432C>T (p.Arg478Cys)
NM_000208.4(INSR):c.143A>G (p.His48Arg) rs1364492874
NM_000208.4(INSR):c.1459A>C (p.Lys487Gln) rs121913136
NM_000208.4(INSR):c.1484-108G>A rs2245143
NM_000208.4(INSR):c.1484-108G>C rs2245143
NM_000208.4(INSR):c.14del (p.Gly5fs) rs1419070784
NM_000208.4(INSR):c.1513A>G (p.Ile505Val) rs1599937384
NM_000208.4(INSR):c.1536C>A (p.Ile512=) rs1599937292
NM_000208.4(INSR):c.1549G>A (p.Glu517Lys)
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter) rs1599937180
NM_000208.4(INSR):c.1610+1G>A
NM_000208.4(INSR):c.1610C>T (p.Ala537Val)
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.164T>C (p.Val55Ala) rs121913152
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.167T>C (p.Ile56Thr) rs1555689937
NM_000208.4(INSR):c.169G>A (p.Glu57Lys) rs886044001
NM_000208.4(INSR):c.172G>A (p.Gly58Arg) rs52836744
NM_000208.4(INSR):c.1741C>T (p.Arg581Trp) rs1555743340
NM_000208.4(INSR):c.1843G>A (p.Val615Ile) rs1240624261
NM_000208.4(INSR):c.1852_1853delinsCT (p.Asp618Leu)
NM_000208.4(INSR):c.1861+107dup rs57156578
NM_000208.4(INSR):c.1861+286_1861+287del rs200089915
NM_000208.4(INSR):c.1861+287del rs200089915
NM_000208.4(INSR):c.1861+8T>A
NM_000208.4(INSR):c.1866C>T (p.Pro622=) rs767792551
NM_000208.4(INSR):c.1884A>G (p.Pro628=)
NM_000208.4(INSR):c.1907C>T (p.Ser636Phe) rs1168145595
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)
NM_000208.4(INSR):c.1988C>T (p.Ala663Val) rs201034510
NM_000208.4(INSR):c.19C>T (p.Arg7Trp)
NM_000208.4(INSR):c.2029+115AC[6] rs60452030
NM_000208.4(INSR):c.2029+17G>T
NM_000208.4(INSR):c.2030-107_2030-106insGTATGTGTG rs780092187
NM_000208.4(INSR):c.2030-121_2030-106del rs778336861
NM_000208.4(INSR):c.2030-138TG[5] rs373172538
NM_000208.4(INSR):c.2030-175GT[2] rs202053464
NM_000208.4(INSR):c.2030-269TG[6] rs140195352
NM_000208.4(INSR):c.2030_2267+1del
NM_000208.4(INSR):c.2034G>A (p.Leu678=)
NM_000208.4(INSR):c.2084A>G (p.Gln695Arg)
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) rs121913137
NM_000208.4(INSR):c.2101G>A (p.Glu701Lys)
NM_000208.4(INSR):c.2122G>A (p.Glu708Lys)
NM_000208.4(INSR):c.2126G>A (p.Cys709Tyr)
NM_000208.4(INSR):c.2178C>A (p.Ser726=)
NM_000208.4(INSR):c.2185A>G (p.Arg729Gly) rs2144890944
NM_000208.4(INSR):c.2199G>A (p.Glu733=)
NM_000208.4(INSR):c.2214C>T (p.Asn738=)
NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) rs545885277
NM_000208.4(INSR):c.2250T>C (p.Thr750=) rs1599907812
NM_000208.4(INSR):c.2267G>A (p.Arg756Lys)
NM_000208.4(INSR):c.2268-51dup rs11400403
NM_000208.4(INSR):c.226C>G (p.Leu76Val)
NM_000208.4(INSR):c.2286G>T (p.Arg762Ser) rs121913138
NM_000208.4(INSR):c.2296G>A (p.Asp766Asn)
NM_000208.4(INSR):c.2320G>A (p.Val774Met)
NM_000208.4(INSR):c.2328G>A (p.Thr776=)
NM_000208.4(INSR):c.2362G>A (p.Val788Met)
NM_000208.4(INSR):c.2375C>T (p.Pro792Leu)
NM_000208.4(INSR):c.2384_2387dup (p.Pro797fs) rs1568441899
NM_000208.4(INSR):c.241C>G (p.Leu81Val)
NM_000208.4(INSR):c.2456G>A (p.Arg819His)
NM_000208.4(INSR):c.2471C>T (p.Ala824Val) rs886054689
NM_000208.4(INSR):c.2480_2487del (p.Gln827fs) rs587776820
NM_000208.4(INSR):c.250A>G (p.Ile84Val) rs772506019
NM_000208.4(INSR):c.2518G>A (p.Val840Ile)
NM_000208.4(INSR):c.2522G>A (p.Ser841Asn) rs780976765
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.2574G>A (p.Thr858=)
NM_000208.4(INSR):c.2599G>A (p.Val867Ile)
NM_000208.4(INSR):c.25dup (p.Ala9fs)
NM_000208.4(INSR):c.2602C>T (p.His868Tyr) rs370120425
NM_000208.4(INSR):c.2674G>A (p.Gly892Ser)
NM_000208.4(INSR):c.2682+6G>T
NM_000208.4(INSR):c.2683-243C>T rs72990436
NM_000208.4(INSR):c.2683-309del rs10710758
NM_000208.4(INSR):c.2697C>T (p.Cys899=)
NM_000208.4(INSR):c.2739G>T (p.Leu913=) rs753461226
NM_000208.4(INSR):c.2740C>T (p.Arg914Cys)
NM_000208.4(INSR):c.2741G>A (p.Arg914His)
NM_000208.4(INSR):c.2765G>A (p.Ser922Asn)
NM_000208.4(INSR):c.2767G>A (p.Val923Met) rs760156961
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) rs387906538
NM_000208.4(INSR):c.2774T>C (p.Ile925Thr) rs1599881881
NM_000208.4(INSR):c.2775C>A (p.Ile925=) rs1423085867
NM_000208.4(INSR):c.2792C>T (p.Ala931Val)
NM_000208.4(INSR):c.2810C>T (p.Thr937Met)
NM_000208.4(INSR):c.2830G>C (p.Val944Leu)
NM_000208.4(INSR):c.2842+171_2842+172del rs148055651
NM_000208.4(INSR):c.2842+33G>A rs35169098
NM_000208.4(INSR):c.2843-5T>G rs1555736265
NM_000208.4(INSR):c.2901C>T (p.Leu967=)
NM_000208.4(INSR):c.2929_2932del (p.Leu977fs) rs1555736246
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) rs886054688
NM_000208.4(INSR):c.2945+218dup rs58240555
NM_000208.4(INSR):c.2946-20G>A
NM_000208.4(INSR):c.2946-228del rs11292032
NM_000208.4(INSR):c.297G>T (p.Leu99=)
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) rs1555735951
NM_000208.4(INSR):c.3013+271A>G rs10407499
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser) rs1281347529
NM_000208.4(INSR):c.3052G>T (p.Val1018Leu) rs2144814502
NM_000208.4(INSR):c.3054G>A (p.Val1018=) rs886054687
NM_000208.4(INSR):c.3071C>T (p.Thr1024Ile) rs780301757
NM_000208.4(INSR):c.307T>C (p.Phe103Leu) rs1568229181
NM_000208.4(INSR):c.3094G>A (p.Gly1032Ser)
NM_000208.4(INSR):c.309C>T (p.Phe103=) rs1600111692
NM_000208.4(INSR):c.3104G>T (p.Gly1035Val) rs121913135
NM_000208.4(INSR):c.3138C>A (p.Ile1046=)
NM_000208.4(INSR):c.3157C>T (p.Arg1053Cys)
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val) rs1599874183
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.3191G>A (p.Ser1064Asn)
NM_000208.4(INSR):c.3203G>A (p.Arg1068Gln)
NM_000208.4(INSR):c.3234G>A (p.Met1078Ile) rs2144813778
NM_000208.4(INSR):c.3259-304G>A rs8100252
NM_000208.4(INSR):c.3261G>A (p.Val1087=) rs2144806014
NM_000208.4(INSR):c.329G>A (p.Arg110Gln)
NM_000208.4(INSR):c.3312G>A (p.Glu1104=)
NM_000208.4(INSR):c.3337A>G (p.Ser1113Gly)
NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) rs1250061465
NM_000208.4(INSR):c.3370-16C>G
NM_000208.4(INSR):c.3370-16C>T
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) rs121913153
NM_000208.4(INSR):c.3408G>C (p.Met1136Ile)
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.3435C>T (p.Asp1145=)
NM_000208.4(INSR):c.3454G>C (p.Ala1152Pro) rs777183063
NM_000208.4(INSR):c.3465T>C (p.Phe1155=)
NM_000208.4(INSR):c.3470A>G (p.His1157Arg) rs957304581
NM_000208.4(INSR):c.3472C>T (p.Arg1158Trp)
NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr) rs121913139
NM_000208.4(INSR):c.3485C>A (p.Ala1162Glu) rs121913154
NM_000208.4(INSR):c.3485C>T (p.Ala1162Val)
NM_000208.4(INSR):c.3489A>C (p.Arg1163Ser)
NM_000208.4(INSR):c.350_353del (p.Asn117fs) rs1347163319
NM_000208.4(INSR):c.3529+129del rs141692149
NM_000208.4(INSR):c.3540G>A (p.Met1180Ile) rs121913157
NM_000208.4(INSR):c.356C>T (p.Ala119Val)
NM_000208.4(INSR):c.3601C>T (p.Arg1201Trp) rs1568426700
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000208.4(INSR):c.3633_3634del (p.Val1212fs)
NM_000208.4(INSR):c.3660-182GT[2] rs201739191
NM_000208.4(INSR):c.3660-182_3660-181insCGTGTT rs371272167
NM_000208.4(INSR):c.3660-190_3660-189insTGTGTGTT rs57039491
NM_000208.4(INSR):c.3660-246_3660-241del rs66637440
NM_000208.4(INSR):c.3660-270GT[3] rs66587318
NM_000208.4(INSR):c.3660-279TG[3] rs66500056
NM_000208.4(INSR):c.3660-56GT[8] rs367614576
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala) rs201979105
NM_000208.4(INSR):c.3668G>A (p.Gly1223Asp) rs1555734564
NM_000208.4(INSR):c.3680G>C (p.Trp1227Ser) rs121913140
NM_000208.4(INSR):c.3694T>C (p.Leu1232=) rs1599866174
NM_000208.4(INSR):c.3795-66G>A rs11883325
NM_000208.4(INSR):c.3802_3804del (p.Leu1268del) rs2144790591
NM_000208.4(INSR):c.3886C>T (p.Pro1296Ser)
NM_000208.4(INSR):c.38C>T (p.Pro13Leu)
NM_000208.4(INSR):c.3918C>T (p.Ser1306=)
NM_000208.4(INSR):c.3919G>A (p.Glu1307Lys)
NM_000208.4(INSR):c.394G>A (p.Gly132Ser) rs886037750
NM_000208.4(INSR):c.3955A>T (p.Met1319Leu) rs1599863704
NM_000208.4(INSR):c.3957G>C (p.Met1319Ile) rs199599404
NM_000208.4(INSR):c.3964G>C (p.Glu1322Gln) rs2144790104
NM_000208.4(INSR):c.3991C>T (p.Arg1331Cys)
NM_000208.4(INSR):c.3999G>T (p.Ser1333=) rs746489788
NM_000208.4(INSR):c.39delinsCCTGCTGGTGGCGGTGGCCGCGCCC (p.Pro13_Ala20dup) rs2145264985
NM_000208.4(INSR):c.4024G>A (p.Gly1342Ser)
NM_000208.4(INSR):c.4044G>C (p.Ser1348=) rs551853926
NM_000208.4(INSR):c.4049G>A (p.Gly1350Asp)
NM_000208.4(INSR):c.4065C>A (p.Tyr1355Ter) rs140573377
NM_000208.4(INSR):c.4086A>G (p.Thr1362=)
NM_000208.4(INSR):c.408G>A (p.Leu136=) rs1568229079
NM_000208.4(INSR):c.4121T>G (p.Leu1374Arg)
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln) rs52826008
NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro) rs52826008
NM_000208.4(INSR):c.4134G>C (p.Arg1378=) rs763796481
NM_000208.4(INSR):c.421C>T (p.Arg141Trp) rs1555689823
NM_000208.4(INSR):c.422G>A (p.Arg141Gln)
NM_000208.4(INSR):c.438C>G (p.Ile146Met) rs121913159
NM_000208.4(INSR):c.442A>T (p.Lys148Ter) rs121913155
NM_000208.4(INSR):c.448A>G (p.Asn150Asp)
NM_000208.4(INSR):c.479G>A (p.Trp160Ter) rs121913146
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658
NM_000208.4(INSR):c.498C>T (p.Ser166=)
NM_000208.4(INSR):c.509dup (p.Asn170fs)
NM_000208.4(INSR):c.561G>A (p.Pro187=)
NM_000208.4(INSR):c.595dup (p.Thr199fs)
NM_000208.4(INSR):c.601A>G (p.Ile201Val)
NM_000208.4(INSR):c.608G>A (p.Gly203Glu)
NM_000208.4(INSR):c.632C>T (p.Thr211Ile) rs1967766760
NM_000208.4(INSR):c.640C>A (p.His214Asn)
NM_000208.4(INSR):c.652+19G>T
NM_000208.4(INSR):c.652+78del rs3837940
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-23TC[13] rs3835070
NM_000208.4(INSR):c.653-23TC[14] rs3835070
NM_000208.4(INSR):c.653-23TC[15] rs3835070
NM_000208.4(INSR):c.653-23TC[16] rs3835070
NM_000208.4(INSR):c.653-23TC[19]
NM_000208.4(INSR):c.653-23TC[20] rs3835070
NM_000208.4(INSR):c.653-23TC[21]
NM_000208.4(INSR):c.653-23TC[5]
NM_000208.4(INSR):c.653-23TC[8] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-5_653-4insTC rs1555746859
NM_000208.4(INSR):c.653-70ATTT[10] rs57380348
NM_000208.4(INSR):c.653-70ATTT[12] rs57380348
NM_000208.4(INSR):c.653-70ATTT[9] rs57380348
NM_000208.4(INSR):c.653-7T>C
NM_000208.4(INSR):c.653-7_653-6insTC rs1555746860
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000208.4(INSR):c.660_661del (p.Thr221fs)
NM_000208.4(INSR):c.665T>C (p.Ile222Thr)
NM_000208.4(INSR):c.698T>G (p.Leu233Arg) rs387906539
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)
NM_000208.4(INSR):c.712G>A (p.Glu238Lys)
NM_000208.4(INSR):c.728G>A (p.Cys243Tyr) rs911809758
NM_000208.4(INSR):c.739G>A (p.Asp247Asn)
NM_000208.4(INSR):c.741C>T (p.Asp247=)
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) rs121913141
NM_000208.4(INSR):c.783C>G (p.Asp261Glu) rs891087
NM_000208.4(INSR):c.784G>A (p.Gly262Ser) rs141484557
NM_000208.4(INSR):c.796G>A (p.Glu266Lys)
NM_000208.4(INSR):c.851G>A (p.Ser284Asn) rs2144988797
NM_000208.4(INSR):c.890G>A (p.Arg297Gln)
NM_000208.4(INSR):c.891G>A (p.Arg297=) rs1024295249
NM_000208.4(INSR):c.895C>G (p.Gln299Glu)
NM_000208.4(INSR):c.921CAA[2] (p.Asn309del) rs775724610
NM_000208.4(INSR):c.936C>T (p.Ile312=) rs760555781
NM_000208.4(INSR):c.951C>T (p.Ser317=)
NM_000208.4(INSR):c.952G>A (p.Gly318Arg)
NM_000208.4(INSR):c.974+240C>T rs867527884
NM_000208.4(INSR):c.974+52G>A rs2860179
NM_000208.4(INSR):c.975-25CT[7]
NM_000208.4(INSR):c.975-9C>T
NM_000208.4(INSR):c.989C>A (p.Pro330Gln)

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.