ClinVar Miner

List of variants in gene ITPR1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1703
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.8029-292A>G rs11130159 0.99081
NM_001378452.1(ITPR1):c.856-151C>T rs6442894 0.97344
NM_001378452.1(ITPR1):c.8029-242T>C rs11130160 0.97337
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=) rs6442905 0.96699
NM_001378452.1(ITPR1):c.6388-172T>C rs6442907 0.96296
NM_001378452.1(ITPR1):c.7868-41G>A rs9844268 0.94897
NM_001378452.1(ITPR1):c.855+308T>C rs4293683 0.94210
NM_001378452.1(ITPR1):c.855+136A>G rs4271897 0.82503
NM_001378452.1(ITPR1):c.625-209A>G rs2686606 0.81910
NM_001378452.1(ITPR1):c.951+166C>G rs6442897 0.80492
NM_001378452.1(ITPR1):c.855+165A>G rs4303850 0.80473
NM_001378452.1(ITPR1):c.8029-123T>C rs2270747 0.78821
NM_001378452.1(ITPR1):c.6181-156T>C rs4684443 0.73199
NM_001378452.1(ITPR1):c.6388-291T>C rs6442906 0.69533
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=) rs7613447 0.68442
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001378452.1(ITPR1):c.2204+100A>T rs2306876 0.67550
NM_001378452.1(ITPR1):c.5220+234del rs34222640 0.66506
NM_001378452.1(ITPR1):c.2007-179G>A rs1994500 0.54626
NM_001378452.1(ITPR1):c.6616-219A>G rs4685820 0.51133
NM_001378452.1(ITPR1):c.6809-287C>T rs2270748 0.48614
NM_001378452.1(ITPR1):c.4536+196A>G rs9311395 0.45677
NM_001378452.1(ITPR1):c.93-41T>G rs1038639 0.43476
NM_001378452.1(ITPR1):c.4282-57A>G rs3749382 0.42929
NM_001378452.1(ITPR1):c.4282-178T>C rs3749381 0.42884
NM_001378452.1(ITPR1):c.4992-240dup rs11448301 0.42807
NM_001378452.1(ITPR1):c.3703-230_3703-229insC rs34573408 0.42602
NM_001378452.1(ITPR1):c.4029+241C>G rs6786081 0.42202
NM_001378452.1(ITPR1):c.3829-158G>A rs4685801 0.41000
NM_001378452.1(ITPR1):c.4843-207T>G rs3816835 0.40112
NM_001378452.1(ITPR1):c.2598+187T>C rs3804984 0.38971
NM_001378452.1(ITPR1):c.4536+651A>G rs6762644 0.38968
NM_001378452.1(ITPR1):c.3498+205A>G rs2306879 0.37010
NM_001378452.1(ITPR1):c.4536+626A>G rs6762558 0.33866
NM_001378452.1(ITPR1):c.5103+160A>G rs2306881 0.33866
NM_001378452.1(ITPR1):c.1252-219T>C rs6801563 0.32763
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_001378452.1(ITPR1):c.3161+202A>C rs56024065 0.29282
NM_001378452.1(ITPR1):c.6616-210G>A rs11712938 0.29053
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001378452.1(ITPR1):c.3702+57T>G rs733018 0.25473
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001378452.1(ITPR1):c.5979+154C>T rs2053501 0.24091
NM_001378452.1(ITPR1):c.3106+218T>G rs2633722 0.21686
NM_001378452.1(ITPR1):c.3106+256C>T rs41289638 0.21129
NM_001378452.1(ITPR1):c.3107-264C>T rs4684437 0.21109
NM_001378452.1(ITPR1):c.625-257C>T rs4594601 0.19098
NM_001378452.1(ITPR1):c.8190+124C>T rs41290678 0.19016
NM_001378452.1(ITPR1):c.164-332T>C rs9832246 0.18972
NM_001378452.1(ITPR1):c.5354-64A>G rs11920001 0.18106
NM_001378452.1(ITPR1):c.4842+158G>A rs34548572 0.16922
NM_001378452.1(ITPR1):c.951+57C>T rs28461825 0.16528
NM_001378452.1(ITPR1):c.951+41G>A rs28724276 0.16500
NM_001378452.1(ITPR1):c.5354-186T>G rs11920824 0.16495
NM_001378452.1(ITPR1):c.163+132G>C rs304015 0.16424
NM_001378452.1(ITPR1):c.951+51G>A rs28592010 0.16268
NM_001378452.1(ITPR1):c.4992-143G>A rs9813210 0.15310
NM_001378452.1(ITPR1):c.855+86T>A rs41289624 0.15147
NM_001378452.1(ITPR1):c.6291+330C>T rs35840266 0.15091
NM_001378452.1(ITPR1):c.996+110G>A rs13316843 0.14767
NM_001378452.1(ITPR1):c.4992-263C>T rs17041262 0.14164
NM_001378452.1(ITPR1):c.3106+157A>G rs9866640 0.13635
NM_001378452.1(ITPR1):c.952-156A>G rs17041109 0.13478
NM_001378452.1(ITPR1):c.997-32T>C rs2306870 0.13087
NM_001378452.1(ITPR1):c.1151+5C>G rs2306868 0.13045
NM_001378452.1(ITPR1):c.1251+26C>T rs6783245 0.12901
NM_001378452.1(ITPR1):c.1251+87_1251+88insT rs11446330 0.12901
NM_001378452.1(ITPR1):c.-16-145A>G rs56378811 0.12840
NM_001378452.1(ITPR1):c.855+241T>G rs17760545 0.12831
NM_001378452.1(ITPR1):c.1714-137G>A rs17041147 0.12660
NM_001378452.1(ITPR1):c.1252-109T>A rs6801737 0.12646
NM_001378452.1(ITPR1):c.1714-64G>T rs7625003 0.12639
NM_001378452.1(ITPR1):c.6615+179T>A rs73003088 0.12507
NM_001378452.1(ITPR1):c.1886+300C>T rs7650467 0.12343
NM_001378452.1(ITPR1):c.997-81T>C rs2306871 0.11184
NM_001378452.1(ITPR1):c.2599-80T>C rs13082052 0.10014
NM_001378452.1(ITPR1):c.6387+275A>G rs73003023 0.09891
NM_001378452.1(ITPR1):c.6292-215G>A rs17729525 0.09473
NM_001378452.1(ITPR1):c.4281+108C>T rs6793265 0.08811
NM_001378452.1(ITPR1):c.164-225G>A rs57917131 0.08573
NM_001378452.1(ITPR1):c.6616-56T>C rs17786144 0.08359
NM_001378452.1(ITPR1):c.1887-205C>A rs2306874 0.07791
NM_001378452.1(ITPR1):c.2456+194G>T rs78487649 0.07573
NM_001378452.1(ITPR1):c.1252-208A>G rs79145630 0.07036
NM_001378452.1(ITPR1):c.-16-56T>C rs9829878 0.06186
NM_001378452.1(ITPR1):c.4029+185C>G rs17041208 0.06164
NM_001378452.1(ITPR1):c.2205-320A>G rs79546819 0.05869
NM_001378452.1(ITPR1):c.4029+135T>A rs56331780 0.05807
NM_001378452.1(ITPR1):c.4281+103T>C rs11919950 0.05766
NM_001378452.1(ITPR1):c.4281+105G>T rs60721566 0.05761
NM_001378452.1(ITPR1):c.*777C>T rs41315884 0.05676
NM_001378452.1(ITPR1):c.*847G>A rs41304181 0.05655
NM_001378452.1(ITPR1):c.2006+162G>A rs78163413 0.05533
NM_001378452.1(ITPR1):c.1713+273G>A rs59359486 0.05197
NM_001378452.1(ITPR1):c.4536+105G>A rs6770659 0.05069
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_001378452.1(ITPR1):c.4408-100C>T rs6442904 0.04674
NM_001378452.1(ITPR1):c.4536+263G>A rs58096901 0.04334
NM_001378452.1(ITPR1):c.3702+122A>G rs78245904 0.04182
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_001378452.1(ITPR1):c.2599-217G>A rs73807116 0.04005
NM_001378452.1(ITPR1):c.4408-213G>A rs6442903 0.03927
NM_001378452.1(ITPR1):c.4658-257G>A rs6791460 0.03917
NM_001378452.1(ITPR1):c.5173-206G>A rs55946983 0.03293
NM_001378452.1(ITPR1):c.164-281del rs111460762 0.02676
NM_001378452.1(ITPR1):c.1413-113T>C rs10514656 0.02637
NM_001378452.1(ITPR1):c.3829-158del rs149798811 0.02540
NM_001378452.1(ITPR1):c.5980-125T>G rs6778543 0.02522
NM_001378452.1(ITPR1):c.5136+123T>A rs78169716 0.02489
NM_001378452.1(ITPR1):c.*643A>T rs41305987 0.02460
NM_001378452.1(ITPR1):c.7107+182T>C rs73807157 0.02436
NM_001378452.1(ITPR1):c.2006+229C>T rs77927338 0.02421
NM_001378452.1(ITPR1):c.*47G>C rs74998763 0.02401
NM_001378452.1(ITPR1):c.*48T>G rs77764633 0.02400
NM_001378452.1(ITPR1):c.5104-299A>G rs76415816 0.02337
NM_001378452.1(ITPR1):c.855+50G>A rs370930517 0.02312
NM_001378452.1(ITPR1):c.997-164G>A rs75475590 0.02312
NM_001378452.1(ITPR1):c.2780-138A>G rs143776312 0.02296
NM_001378452.1(ITPR1):c.4992-21C>T rs78376371 0.02269
NM_001378452.1(ITPR1):c.2599-37T>G rs73807117 0.02140
NM_001378452.1(ITPR1):c.5221-113C>T rs112777249 0.02064
NM_001378452.1(ITPR1):c.1554+228A>G rs74971639 0.02060
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_001378452.1(ITPR1):c.5545-220G>C rs112143759 0.02035
NM_001378452.1(ITPR1):c.2205-311G>A rs149220684 0.02017
NM_001378452.1(ITPR1):c.7107+305C>G rs114806495 0.01980
NM_001378452.1(ITPR1):c.4991+311C>T rs17041259 0.01927
NM_001378452.1(ITPR1):c.5136+50G>A rs116081432 0.01895
NM_001378452.1(ITPR1):c.4843-287G>A rs114838346 0.01827
NM_001378452.1(ITPR1):c.2968-325A>G rs79265959 0.01818
NM_001378452.1(ITPR1):c.6387+286A>C rs113061771 0.01610
NM_001378452.1(ITPR1):c.951+268T>G rs74656548 0.01572
NM_001378452.1(ITPR1):c.1412+193T>C rs80012961 0.01567
NM_001378452.1(ITPR1):c.996+47C>T rs145997583 0.01508
NM_001378452.1(ITPR1):c.708+28A>G rs73108472 0.01485
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=) rs34748547 0.01444
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_001378452.1(ITPR1):c.3828+237C>T rs79315782 0.01196
NM_001378452.1(ITPR1):c.4842+100G>A rs17041236 0.01149
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) rs61741506 0.01135
NM_001378452.1(ITPR1):c.7468+269T>C rs147961319 0.01116
NM_001378452.1(ITPR1):c.624+265T>A rs114973464 0.01106
NM_001378452.1(ITPR1):c.1554+75A>G rs114570412 0.01073
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001378452.1(ITPR1):c.8191-193C>G rs73807181 0.01043
NM_001378452.1(ITPR1):c.5353+4C>T rs60849754 0.01038
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_001378452.1(ITPR1):c.1251+200C>G rs114149274 0.01028
NM_001378452.1(ITPR1):c.1554+17G>A rs80123990 0.01028
NM_001378452.1(ITPR1):c.1555-66C>T rs80320201 0.00979
NM_001378452.1(ITPR1):c.1555-176G>T rs74658803 0.00976
NM_001378452.1(ITPR1):c.-16-335A>G rs113895575 0.00968
NM_001378452.1(ITPR1):c.-16-344G>A rs141017017 0.00968
NM_001378452.1(ITPR1):c.5353+296C>T rs115751962 0.00942
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_001378452.1(ITPR1):c.3327+12C>T rs116022052 0.00894
NM_001378452.1(ITPR1):c.2457-318G>A rs116772322 0.00861
NM_001378452.1(ITPR1):c.952-285T>C rs76660424 0.00824
NM_001378452.1(ITPR1):c.1886+20C>A rs115097974 0.00819
NM_001378452.1(ITPR1):c.526-52C>G rs140002591 0.00814
NM_001378452.1(ITPR1):c.1251+10G>A rs75936691 0.00811
NM_001378452.1(ITPR1):c.3327+4G>A rs2306878 0.00785
NM_001378452.1(ITPR1):c.856-80T>C rs139601218 0.00767
NM_001378452.1(ITPR1):c.2204+13C>T rs141519515 0.00759
NM_001378452.1(ITPR1):c.2967+47G>A rs143999073 0.00758
NM_001378452.1(ITPR1):c.4029+291A>G rs80031233 0.00717
NM_001378452.1(ITPR1):c.4030-17C>T rs72997345 0.00710
NM_001378452.1(ITPR1):c.-16-117A>G rs73003291 0.00694
NM_001378452.1(ITPR1):c.7468+247G>A rs139888004 0.00677
NM_001378452.1(ITPR1):c.3564+271A>C rs151135868 0.00667
NM_001378452.1(ITPR1):c.624+238G>A rs114220777 0.00666
NM_001378452.1(ITPR1):c.163+237G>T rs73807280 0.00645
NM_001378452.1(ITPR1):c.163+266G>A rs146476230 0.00645
NM_001378452.1(ITPR1):c.5726-130T>C rs138437009 0.00629
NM_001378452.1(ITPR1):c.526-20A>G rs183924664 0.00598
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=) rs35047189 0.00575
NM_001378452.1(ITPR1):c.5354-43T>C rs116333499 0.00555
NM_001378452.1(ITPR1):c.280-170T>C rs139174788 0.00553
NM_001378452.1(ITPR1):c.5136+144G>A rs115437911 0.00547
NM_001378452.1(ITPR1):c.279+314A>G rs148269974 0.00540
NM_001378452.1(ITPR1):c.1555-184T>C rs146732093 0.00530
NM_001378452.1(ITPR1):c.2968-38T>C rs145532745 0.00522
NM_001378452.1(ITPR1):c.5726-334G>A rs76064042 0.00513
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_001378452.1(ITPR1):c.5726-107C>T rs78481273 0.00494
NM_001378452.1(ITPR1):c.3564+22A>G rs114207509 0.00493
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_001378452.1(ITPR1):c.1554+170G>C rs60989464 0.00439
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001378452.1(ITPR1):c.4029+208C>A rs181297938 0.00364
NM_001378452.1(ITPR1):c.1886+296C>T rs141871567 0.00351
NM_001378452.1(ITPR1):c.2457-289C>G rs77843609 0.00348
NM_001378452.1(ITPR1):c.6388-52T>C rs141747499 0.00346
NM_001378452.1(ITPR1):c.6291+257A>T rs145736829 0.00345
NM_001378452.1(ITPR1):c.3829-126A>G rs139086065 0.00344
NM_001378452.1(ITPR1):c.5104-204G>A rs116487205 0.00344
NM_001378452.1(ITPR1):c.6291+245C>T rs141963389 0.00344
NM_001378452.1(ITPR1):c.2334C>T (p.Leu778=) rs36103112 0.00328
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_001378452.1(ITPR1):c.5979+18G>A rs142949720 0.00292
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_001378452.1(ITPR1):c.1412+25C>T rs139324700 0.00250
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_001378452.1(ITPR1):c.624+18T>C rs145400239 0.00221
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_001378452.1(ITPR1):c.1886+7C>T rs181465598 0.00207
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=) rs28565126 0.00201
NM_001378452.1(ITPR1):c.4991+23G>T rs373933380 0.00199
NM_001378452.1(ITPR1):c.4282-37A>C rs370180824 0.00195
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_001378452.1(ITPR1):c.624+48G>A rs147721944 0.00186
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001378452.1(ITPR1):c.6292-31A>G rs369668482 0.00168
NM_001378452.1(ITPR1):c.6387+31C>T rs370999621 0.00167
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001378452.1(ITPR1):c.5889C>T (p.Asp1963=) rs377489220 0.00140
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=) rs192247062 0.00082
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=) rs140402012 0.00077
NM_001378452.1(ITPR1):c.855+15G>C rs372994951 0.00077
NM_001378452.1(ITPR1):c.6809-19T>C rs62231622 0.00076
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001378452.1(ITPR1):c.3106+13G>A rs374750708 0.00069
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_001378452.1(ITPR1):c.3610G>A (p.Val1204Met) rs547074301 0.00064
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_001378452.1(ITPR1):c.4992-46T>A rs185694368 0.00063
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_001378452.1(ITPR1):c.5163C>A (p.Asn1721Lys) rs201937660 0.00060
NM_001378452.1(ITPR1):c.3327+14C>A rs369649805 0.00057
NM_001378452.1(ITPR1):c.8028+35T>C rs150624114 0.00056
NM_001378452.1(ITPR1):c.*121G>C rs146903558 0.00055
NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=) rs368425885 0.00054
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_001378452.1(ITPR1):c.5544+10C>T rs191829356 0.00050
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.4658-18C>T rs370940812 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_001378452.1(ITPR1):c.526-8C>T rs369328275 0.00039
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=) rs201621621 0.00037
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=) rs202123078 0.00034
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001378452.1(ITPR1):c.*279A>G rs886058645 0.00029
NM_001378452.1(ITPR1):c.1380A>G (p.Leu460=) rs375697840 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn) rs371186107 0.00026
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=) rs144178989 0.00025
NM_001378452.1(ITPR1):c.5088A>G (p.Arg1696=) rs375480720 0.00023
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val) rs188477537 0.00023
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg) rs373359869 0.00023
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00022
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=) rs370157764 0.00022
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.4164C>T (p.Val1388=) rs375770679 0.00019
NM_001378452.1(ITPR1):c.6876C>T (p.Ala2292=) rs373926844 0.00019
NM_001378452.1(ITPR1):c.1104C>T (p.Phe368=) rs552561627 0.00017
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.4843-7G>A rs184969640 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=) rs187516662 0.00015
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001378452.1(ITPR1):c.6180+11T>A rs772860677 0.00013
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=) rs375801584 0.00011
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=) rs375227391 0.00011
NM_001378452.1(ITPR1):c.1983C>T (p.Asn661=) rs369495242 0.00010
NM_001378452.1(ITPR1):c.7926A>G (p.Glu2642=) rs763498610 0.00010
NM_001378452.1(ITPR1):c.4658-46C>A rs375270340 0.00009
NM_001378452.1(ITPR1):c.8277A>G (p.Ter2759=) rs376816678 0.00009
NM_001378452.1(ITPR1):c.855+18A>G rs544750246 0.00009
NM_001378452.1(ITPR1):c.3069C>T (p.Ser1023=) rs762618794 0.00008
NM_001378452.1(ITPR1):c.4246G>A (p.Val1416Ile) rs373436949 0.00008
NM_001378452.1(ITPR1):c.6387+44C>T rs148711783 0.00008
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=) rs549363319 0.00008
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_001378452.1(ITPR1):c.2187C>T (p.Asp729=) rs376805768 0.00007
NM_001378452.1(ITPR1):c.4848C>T (p.Ile1616=) rs746194855 0.00007
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser) rs369108656 0.00007
NM_001378452.1(ITPR1):c.855+8T>G rs750692979 0.00007
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile) rs370701686 0.00006
NM_001378452.1(ITPR1):c.280-10C>A rs761952049 0.00006
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) rs373515668 0.00006
NM_001378452.1(ITPR1):c.3495G>A (p.Thr1165=) rs781586783 0.00006
NM_001378452.1(ITPR1):c.3565-4C>T rs374122245 0.00006
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.3666C>T (p.Ala1222=) rs763869150 0.00006
NM_001378452.1(ITPR1):c.4542C>T (p.Arg1514=) rs770868001 0.00006
NM_001378452.1(ITPR1):c.4572C>T (p.Gly1524=) rs200605212 0.00006
NM_001378452.1(ITPR1):c.5397T>G (p.Ser1799Arg) rs376278816 0.00006
NM_001378452.1(ITPR1):c.5905G>A (p.Ala1969Thr) rs369005032 0.00006
NM_001378452.1(ITPR1):c.6348C>T (p.Asn2116=) rs182891619 0.00006
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=) rs780138157 0.00006
NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser) rs187571979 0.00006
NM_001378452.1(ITPR1):c.783C>T (p.His261=) rs542591284 0.00006
NM_001378452.1(ITPR1):c.8010C>T (p.Tyr2670=) rs372433483 0.00006
NM_001378452.1(ITPR1):c.8154G>A (p.Thr2718=) rs368813104 0.00006
NM_001378452.1(ITPR1):c.1714-9C>A rs367806130 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.3447C>T (p.Pro1149=) rs372672483 0.00005
NM_001378452.1(ITPR1):c.366+15C>G rs145989158 0.00005
NM_001378452.1(ITPR1):c.3846C>T (p.Thr1282=) rs767697214 0.00005
NM_001378452.1(ITPR1):c.3893A>G (p.Asn1298Ser) rs757563485 0.00005
NM_001378452.1(ITPR1):c.4409C>T (p.Ala1470Val) rs556452894 0.00005
NM_001378452.1(ITPR1):c.4683C>T (p.Pro1561=) rs529789068 0.00005
NM_001378452.1(ITPR1):c.4783C>T (p.Arg1595Cys) rs373619512 0.00005
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser) rs200927261 0.00005
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) rs35343277 0.00005
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=) rs545754582 0.00005
NM_001378452.1(ITPR1):c.7197G>A (p.Glu2399=) rs538209212 0.00005
NM_001378452.1(ITPR1):c.1161T>C (p.Tyr387=) rs565375216 0.00004
NM_001378452.1(ITPR1):c.1413-16C>T rs369770816 0.00004
NM_001378452.1(ITPR1):c.1554+3C>T rs781141738 0.00004
NM_001378452.1(ITPR1):c.1554+6T>G rs371214686 0.00004
NM_001378452.1(ITPR1):c.1886+16G>A rs375446884 0.00004
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn) rs185464679 0.00004
NM_001378452.1(ITPR1):c.2204+4C>T rs374620253 0.00004
NM_001378452.1(ITPR1):c.2349C>T (p.Cys783=) rs770093543 0.00004
NM_001378452.1(ITPR1):c.2967+8C>T rs1166014936 0.00004
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=) rs745351516 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001378452.1(ITPR1):c.3564+5G>T rs371420259 0.00004
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr) rs768179678 0.00004
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=) rs542486327 0.00004
NM_001378452.1(ITPR1):c.4537-6T>C rs557642414 0.00004
NM_001378452.1(ITPR1):c.4991+10C>G rs1400163478 0.00004
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser) rs760608076 0.00004
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.5800G>A (p.Ala1934Thr) rs373554736 0.00004
NM_001378452.1(ITPR1):c.6181-5C>T rs748996100 0.00004
NM_001378452.1(ITPR1):c.6440G>C (p.Gly2147Ala) rs371303646 0.00004
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser) rs199890939 0.00004
NM_001378452.1(ITPR1):c.6726C>T (p.Asp2242=) rs114359276 0.00004
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_001378452.1(ITPR1):c.709-6T>C rs374932152 0.00004
NM_001378452.1(ITPR1):c.7528G>A (p.Gly2510Arg) rs868822649 0.00004
NM_001378452.1(ITPR1):c.7868-16T>C rs374409086 0.00004
NM_001378452.1(ITPR1):c.7992T>C (p.Tyr2664=) rs201894676 0.00004
NM_001378452.1(ITPR1):c.8031A>G (p.Glu2677=) rs768066092 0.00004
NM_001378452.1(ITPR1):c.929C>T (p.Thr310Met) rs201693219 0.00004
NM_001378452.1(ITPR1):c.1016C>A (p.Ala339Asp) rs755837192 0.00003
NM_001378452.1(ITPR1):c.1413-4T>A rs761813644 0.00003
NM_001378452.1(ITPR1):c.1833C>T (p.Thr611=) rs546056087 0.00003
NM_001378452.1(ITPR1):c.2456+20_2456+23dup rs1412066204 0.00003
NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=) rs562572079 0.00003
NM_001378452.1(ITPR1):c.279C>T (p.His93=) rs371299264 0.00003
NM_001378452.1(ITPR1):c.337A>G (p.Thr113Ala) rs745891343 0.00003
NM_001378452.1(ITPR1):c.3442G>A (p.Gly1148Ser) rs542241167 0.00003
NM_001378452.1(ITPR1):c.3498+6T>C rs753276679 0.00003
NM_001378452.1(ITPR1):c.3576G>T (p.Arg1192=) rs767237814 0.00003
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=) rs373572745 0.00003
NM_001378452.1(ITPR1):c.4377G>A (p.Leu1459=) rs566552796 0.00003
NM_001378452.1(ITPR1):c.4407+7C>T rs886042210 0.00003
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=) rs886058616 0.00003
NM_001378452.1(ITPR1):c.525+9G>A rs573607286 0.00003
NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr) rs949938763 0.00003
NM_001378452.1(ITPR1):c.5762G>A (p.Arg1921Gln) rs375223667 0.00003
NM_001378452.1(ITPR1):c.625-14A>T rs368114873 0.00003
NM_001378452.1(ITPR1):c.6693A>G (p.Ser2231=) rs763938511 0.00003
NM_001378452.1(ITPR1):c.6808+13G>A rs374084743 0.00003
NM_001378452.1(ITPR1):c.6993C>T (p.Ile2331=) rs369778265 0.00003
NM_001378452.1(ITPR1):c.7272+15T>A rs777868994 0.00003
NM_001378452.1(ITPR1):c.7559A>G (p.Glu2520Gly) rs369183965 0.00003
NM_001378452.1(ITPR1):c.1014C>T (p.Asp338=) rs752325769 0.00002
NM_001378452.1(ITPR1):c.1492G>T (p.Val498Phe) rs756745652 0.00002
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=) rs886058613 0.00002
NM_001378452.1(ITPR1):c.1714-12C>T rs765853714 0.00002
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=) rs563347395 0.00002
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=) rs748274420 0.00002
NM_001378452.1(ITPR1):c.2586G>C (p.Lys862Asn) rs780454319 0.00002
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala) rs773251870 0.00002
NM_001378452.1(ITPR1):c.3912C>T (p.His1304=) rs556943368 0.00002
NM_001378452.1(ITPR1):c.4537-18T>C rs769548026 0.00002
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_001378452.1(ITPR1):c.4719C>G (p.Leu1573=) rs375679048 0.00002
NM_001378452.1(ITPR1):c.4779C>T (p.Ala1593=) rs371821418 0.00002
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=) rs886058618 0.00002
NM_001378452.1(ITPR1):c.5332C>A (p.Pro1778Thr) rs775018692 0.00002
NM_001378452.1(ITPR1):c.5336G>T (p.Gly1779Val) rs749571656 0.00002
NM_001378452.1(ITPR1):c.5737A>C (p.Thr1913Pro) rs71313897 0.00002
NM_001378452.1(ITPR1):c.5838C>T (p.Asp1946=) rs755937487 0.00002
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) rs748401794 0.00002
NM_001378452.1(ITPR1):c.625-19A>G rs1470591499 0.00002
NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile) rs774735244 0.00002
NM_001378452.1(ITPR1):c.6561A>T (p.Gln2187His) rs1369061682 0.00002
NM_001378452.1(ITPR1):c.6701G>A (p.Arg2234Gln) rs761779906 0.00002
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.7386G>C (p.Leu2462=) rs757334294 0.00002
NM_001378452.1(ITPR1):c.7872G>A (p.Leu2624=) rs780714476 0.00002
NM_001378452.1(ITPR1):c.8175G>A (p.Ser2725=) rs767821093 0.00002
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) rs201934670 0.00002
NM_001378452.1(ITPR1):c.1022G>A (p.Arg341Gln) rs373174492 0.00001
NM_001378452.1(ITPR1):c.1051A>T (p.Met351Leu) rs759008439 0.00001
NM_001378452.1(ITPR1):c.1152-6T>C rs752886993 0.00001
NM_001378452.1(ITPR1):c.1167G>T (p.Arg389=) rs779491938 0.00001
NM_001378452.1(ITPR1):c.1240G>A (p.Val414Met) rs1462970629 0.00001
NM_001378452.1(ITPR1):c.1251+7C>T rs773078694 0.00001
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser) rs561470737 0.00001
NM_001378452.1(ITPR1):c.1441G>A (p.Val481Ile) rs1297896832 0.00001
NM_001378452.1(ITPR1):c.1454C>G (p.Thr485Ser) rs1465080574 0.00001
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00001
NM_001378452.1(ITPR1):c.1554+4G>A rs117503975 0.00001
NM_001378452.1(ITPR1):c.1555-3C>A rs2093919137 0.00001
NM_001378452.1(ITPR1):c.1610G>A (p.Arg537Gln) rs749386587 0.00001
NM_001378452.1(ITPR1):c.1638C>T (p.His546=) rs1464579960 0.00001
NM_001378452.1(ITPR1):c.1719T>C (p.Tyr573=) rs752379221 0.00001
NM_001378452.1(ITPR1):c.1773T>G (p.Ala591=) rs191028530 0.00001
NM_001378452.1(ITPR1):c.2006+20T>A rs766235391 0.00001
NM_001378452.1(ITPR1):c.2125C>T (p.Arg709Cys) rs1169304800 0.00001
NM_001378452.1(ITPR1):c.2205-14G>T rs766020180 0.00001
NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val) rs779996062 0.00001
NM_001378452.1(ITPR1):c.2286C>T (p.Val762=) rs766955271 0.00001
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=) rs779948053 0.00001
NM_001378452.1(ITPR1):c.2446G>A (p.Ala816Thr) rs778051422 0.00001
NM_001378452.1(ITPR1):c.2456+6C>T rs779086270 0.00001
NM_001378452.1(ITPR1):c.2809G>A (p.Val937Met) rs751172849 0.00001
NM_001378452.1(ITPR1):c.2854T>C (p.Leu952=) rs377497261 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=) rs764301997 0.00001
NM_001378452.1(ITPR1):c.2888G>A (p.Gly963Asp) rs777204180 0.00001
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) rs370220353 0.00001
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met) rs776228202 0.00001
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.303G>A (p.Lys101=) rs374450149 0.00001
NM_001378452.1(ITPR1):c.3162-20C>T rs751455829 0.00001
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser) rs776099053 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378452.1(ITPR1):c.3215G>A (p.Arg1072His) rs2094336496 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe) rs1278034455 0.00001
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=) rs764767201 0.00001
NM_001378452.1(ITPR1):c.3564+9C>T rs564799796 0.00001
NM_001378452.1(ITPR1):c.3703-19T>C rs1275860113 0.00001
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) rs773030719 0.00001
NM_001378452.1(ITPR1):c.3873C>G (p.Phe1291Leu) rs567943387 0.00001
NM_001378452.1(ITPR1):c.3916G>A (p.Val1306Ile) rs187604016 0.00001
NM_001378452.1(ITPR1):c.4015A>G (p.Met1339Val) rs372380638 0.00001
NM_001378452.1(ITPR1):c.4051G>A (p.Val1351Ile) rs1553697090 0.00001
NM_001378452.1(ITPR1):c.4098G>A (p.Gln1366=) rs774836136 0.00001
NM_001378452.1(ITPR1):c.4114C>T (p.Arg1372Trp) rs777018717 0.00001
NM_001378452.1(ITPR1):c.4155C>T (p.Ile1385=) rs267599850 0.00001
NM_001378452.1(ITPR1):c.4242C>T (p.Asp1414=) rs776080261 0.00001
NM_001378452.1(ITPR1):c.4250G>A (p.Arg1417His) rs766019080 0.00001
NM_001378452.1(ITPR1):c.4251C>T (p.Arg1417=) rs375223250 0.00001
NM_001378452.1(ITPR1):c.4293A>C (p.Ala1431=) rs769168934 0.00001
NM_001378452.1(ITPR1):c.4398C>T (p.Asp1466=) rs1160840466 0.00001
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr) rs1392354334 0.00001
NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=) rs192863290 0.00001
NM_001378452.1(ITPR1):c.4483A>G (p.Ile1495Val) rs769648295 0.00001
NM_001378452.1(ITPR1):c.4640G>A (p.Arg1547Gln) rs1250105592 0.00001
NM_001378452.1(ITPR1):c.4657+9C>G rs757529314 0.00001
NM_001378452.1(ITPR1):c.4658-3C>T rs779986666 0.00001
NM_001378452.1(ITPR1):c.4689C>T (p.Asp1563=) rs549933249 0.00001
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=) rs886058578 0.00001
NM_001378452.1(ITPR1):c.4968T>C (p.Cys1656=) rs1345459380 0.00001
NM_001378452.1(ITPR1):c.4992-15T>G rs552425239 0.00001
NM_001378452.1(ITPR1):c.5228C>T (p.Ala1743Val) rs747201343 0.00001
NM_001378452.1(ITPR1):c.525C>T (p.Ser175=) rs539657017 0.00001
NM_001378452.1(ITPR1):c.5266G>A (p.Val1756Ile) rs763787819 0.00001
NM_001378452.1(ITPR1):c.5301C>A (p.Ser1767Arg) rs758372914 0.00001
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg) rs886058619 0.00001
NM_001378452.1(ITPR1):c.5354G>T (p.Gly1785Val) rs200004069 0.00001
NM_001378452.1(ITPR1):c.5364C>T (p.Ser1788=) rs769349793 0.00001
NM_001378452.1(ITPR1):c.5413T>A (p.Cys1805Ser) rs1377176027 0.00001
NM_001378452.1(ITPR1):c.5479C>T (p.Arg1827Ter) rs1249951465 0.00001
NM_001378452.1(ITPR1):c.5689G>A (p.Asp1897Asn) rs370615766 0.00001
NM_001378452.1(ITPR1):c.5760C>T (p.Val1920=) rs773926755 0.00001
NM_001378452.1(ITPR1):c.5784C>T (p.Ser1928=) rs553415592 0.00001
NM_001378452.1(ITPR1):c.5785G>A (p.Ala1929Thr) rs377199612 0.00001
NM_001378452.1(ITPR1):c.5789C>A (p.Ala1930Asp) rs535969136 0.00001
NM_001378452.1(ITPR1):c.5867C>T (p.Ala1956Val) rs769041115 0.00001
NM_001378452.1(ITPR1):c.5931C>T (p.Ile1977=) rs780156889 0.00001
NM_001378452.1(ITPR1):c.5979+19G>A rs776360563 0.00001
NM_001378452.1(ITPR1):c.6069T>C (p.Thr2023=) rs374602663 0.00001
NM_001378452.1(ITPR1):c.6511-7A>G rs537619023 0.00001
NM_001378452.1(ITPR1):c.6603G>A (p.Thr2201=) rs149339933 0.00001
NM_001378452.1(ITPR1):c.6711T>C (p.Tyr2237=) rs750456014 0.00001
NM_001378452.1(ITPR1):c.6779A>G (p.Asn2260Ser) rs745310231 0.00001
NM_001378452.1(ITPR1):c.678G>T (p.Trp226Cys) rs1329469853 0.00001
NM_001378452.1(ITPR1):c.6808+4G>A rs746724784 0.00001
NM_001378452.1(ITPR1):c.6838A>C (p.Asn2280His) rs368097378 0.00001
NM_001378452.1(ITPR1):c.6992T>C (p.Ile2331Thr) rs570295932 0.00001
NM_001378452.1(ITPR1):c.7021A>G (p.Ile2341Val) rs773512133 0.00001
NM_001378452.1(ITPR1):c.7123A>G (p.Ile2375Val) rs777957075 0.00001
NM_001378452.1(ITPR1):c.7180A>G (p.Met2394Val) rs905034632 0.00001
NM_001378452.1(ITPR1):c.7250A>G (p.His2417Arg) rs1250950938 0.00001
NM_001378452.1(ITPR1):c.7365G>A (p.Leu2455=) rs764042735 0.00001
NM_001378452.1(ITPR1):c.7428C>T (p.Ile2476=) rs758670524 0.00001
NM_001378452.1(ITPR1):c.7484_7516del (p.Leu2495_Arg2506delinsTrp) rs1264194781 0.00001
NM_001378452.1(ITPR1):c.765A>G (p.Glu255=) rs926159378 0.00001
NM_001378452.1(ITPR1):c.8029-7A>C rs918140965 0.00001
NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln) rs760588490 0.00001
NM_001378452.1(ITPR1):c.813G>A (p.Ser271=) rs112057923 0.00001
NM_001378452.1(ITPR1):c.8161T>C (p.Ser2721Pro) rs1394842658 0.00001
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=) rs886058580 0.00001
NM_001378452.1(ITPR1):c.8258A>G (p.Asn2753Ser) rs762416053 0.00001
NM_001378452.1(ITPR1):c.903C>T (p.Ser301=) rs776454785 0.00001
GRCh37/hg19 3p26.1(chr3:4513497-4612609)x1
NC_000003.11:g.(?_4558176)_(4558287_?)del
NC_000003.11:g.(?_4558176)_(4562798_?)del
NC_000003.11:g.(?_4669427)_(4715091_?)del
NC_000003.11:g.(?_4854806)_(4859946_?)dup
NM_001378452.1(ITPR1):c.*1183_*1184dup rs3079679
NM_001378452.1(ITPR1):c.*7G>T
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.1002C>A (p.Asp334Glu)
NM_001378452.1(ITPR1):c.100G>A (p.Asp34Asn) rs1575397455
NM_001378452.1(ITPR1):c.1015G>A (p.Ala339Thr)
NM_001378452.1(ITPR1):c.101A>G (p.Asp34Gly)
NM_001378452.1(ITPR1):c.1021C>A (p.Arg341=) rs2093754929
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys) rs779003637
NM_001378452.1(ITPR1):c.1033C>A (p.Arg345=) rs369055445
NM_001378452.1(ITPR1):c.1033C>T (p.Arg345Trp) rs369055445
NM_001378452.1(ITPR1):c.1035G>A (p.Arg345=)
NM_001378452.1(ITPR1):c.1043A>G (p.Gln348Arg)
NM_001378452.1(ITPR1):c.1052T>C (p.Met351Thr)
NM_001378452.1(ITPR1):c.1067T>G (p.Val356Gly)
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001378452.1(ITPR1):c.1085A>G (p.Asn362Ser)
NM_001378452.1(ITPR1):c.1092C>G (p.Ile364Met)
NM_001378452.1(ITPR1):c.1093T>G (p.Ser365Ala) rs2093756773
NM_001378452.1(ITPR1):c.1115C>T (p.Pro372Leu) rs2093757182
NM_001378452.1(ITPR1):c.1121C>T (p.Thr374Ile)
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1126C>A (p.Arg376Ser)
NM_001378452.1(ITPR1):c.1126C>T (p.Arg376Cys)
NM_001378452.1(ITPR1):c.1127G>A (p.Arg376His)
NM_001378452.1(ITPR1):c.1127G>T (p.Arg376Leu)
NM_001378452.1(ITPR1):c.1132G>A (p.Gly378Ser)
NM_001378452.1(ITPR1):c.1140C>T (p.Ser380=)
NM_001378452.1(ITPR1):c.1146C>A (p.Val382=)
NM_001378452.1(ITPR1):c.1151+11A>G rs2125184641
NM_001378452.1(ITPR1):c.1152-10dup
NM_001378452.1(ITPR1):c.1152-20C>T
NM_001378452.1(ITPR1):c.1152-7C>T
NM_001378452.1(ITPR1):c.1152G>A (p.Arg384=)
NM_001378452.1(ITPR1):c.1186A>G (p.Asn396Asp)
NM_001378452.1(ITPR1):c.1205C>G (p.Thr402Arg)
NM_001378452.1(ITPR1):c.1210A>G (p.Ile404Val)
NM_001378452.1(ITPR1):c.1213C>G (p.Pro405Ala)
NM_001378452.1(ITPR1):c.1213C>T (p.Pro405Ser)
NM_001378452.1(ITPR1):c.1239C>T (p.Pro413=)
NM_001378452.1(ITPR1):c.1240G>T (p.Val414Leu)
NM_001378452.1(ITPR1):c.1242G>C (p.Val414=) rs2093821905
NM_001378452.1(ITPR1):c.1251+17G>T
NM_001378452.1(ITPR1):c.1251+66dup
NM_001378452.1(ITPR1):c.1252-133del rs34042936
NM_001378452.1(ITPR1):c.1252-133dup rs34042936
NM_001378452.1(ITPR1):c.1252-15C>T
NM_001378452.1(ITPR1):c.1252-17A>G
NM_001378452.1(ITPR1):c.1252-18G>A
NM_001378452.1(ITPR1):c.1252-1G>A
NM_001378452.1(ITPR1):c.1252-1G>C rs1064796337
NM_001378452.1(ITPR1):c.1252-1G>T rs1064796337
NM_001378452.1(ITPR1):c.1296A>C (p.Ile432=)
NM_001378452.1(ITPR1):c.1297G>T (p.Val433Phe) rs2093848251
NM_001378452.1(ITPR1):c.1335T>C (p.Phe445=)
NM_001378452.1(ITPR1):c.133G>A (p.Asp45Asn)
NM_001378452.1(ITPR1):c.1341T>C (p.Asn447=)
NM_001378452.1(ITPR1):c.1369G>T (p.Ala457Ser)
NM_001378452.1(ITPR1):c.136C>G (p.Leu46Val) rs1464038696
NM_001378452.1(ITPR1):c.1371T>C (p.Ala457=)
NM_001378452.1(ITPR1):c.1381G>T (p.Glu461Ter)
NM_001378452.1(ITPR1):c.1392C>T (p.Thr464=)
NM_001378452.1(ITPR1):c.1412+10C>G
NM_001378452.1(ITPR1):c.1412+11C>G
NM_001378452.1(ITPR1):c.1412+11_1412+12delinsTT
NM_001378452.1(ITPR1):c.1412+12C>T
NM_001378452.1(ITPR1):c.1413-15G>A rs148675260
NM_001378452.1(ITPR1):c.1413-15G>C
NM_001378452.1(ITPR1):c.1413-5C>T
NM_001378452.1(ITPR1):c.1417G>A (p.Val473Ile)
NM_001378452.1(ITPR1):c.141C>A (p.Asn47Lys)
NM_001378452.1(ITPR1):c.1425G>T (p.Lys475Asn)
NM_001378452.1(ITPR1):c.1431A>G (p.Leu477=)
NM_001378452.1(ITPR1):c.1460G>A (p.Gly487Glu)
NM_001378452.1(ITPR1):c.1461A>G (p.Gly487=)
NM_001378452.1(ITPR1):c.1485C>G (p.Leu495=)
NM_001378452.1(ITPR1):c.1492G>A (p.Val498Ile)
NM_001378452.1(ITPR1):c.1499C>G (p.Ser500Cys)
NM_001378452.1(ITPR1):c.1500C>T (p.Ser500=)
NM_001378452.1(ITPR1):c.1508A>G (p.Asn503Ser)
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378452.1(ITPR1):c.1512A>T (p.Arg504Ser)
NM_001378452.1(ITPR1):c.1517G>A (p.Arg506Gln)
NM_001378452.1(ITPR1):c.1533A>T (p.Arg511Ser)
NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)
NM_001378452.1(ITPR1):c.1550A>G (p.Lys517Arg)
NM_001378452.1(ITPR1):c.1554+13T>C
NM_001378452.1(ITPR1):c.1554+15G>A
NM_001378452.1(ITPR1):c.1554+16C>T
NM_001378452.1(ITPR1):c.1555-6A>T
NM_001378452.1(ITPR1):c.1589G>A (p.Cys530Tyr)
NM_001378452.1(ITPR1):c.1591G>A (p.Gly531Ser)
NM_001378452.1(ITPR1):c.1592G>C (p.Gly531Ala)
NM_001378452.1(ITPR1):c.1603A>G (p.Met535Val)
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=) rs1297659569
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=) rs886058612
NM_001378452.1(ITPR1):c.1624G>A (p.Gly542Arg)
NM_001378452.1(ITPR1):c.1627G>A (p.Asp543Asn)
NM_001378452.1(ITPR1):c.163+10T>C
NM_001378452.1(ITPR1):c.163+13C>T
NM_001378452.1(ITPR1):c.163+7T>C
NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr) rs746128987
NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)
NM_001378452.1(ITPR1):c.164-13G>A
NM_001378452.1(ITPR1):c.164-198_164-195del rs112856231
NM_001378452.1(ITPR1):c.164-203A>C rs9828379
NM_001378452.1(ITPR1):c.164-3T>C
NM_001378452.1(ITPR1):c.1642C>T (p.Pro548Ser)
NM_001378452.1(ITPR1):c.1661G>A (p.Arg554Gln)
NM_001378452.1(ITPR1):c.1665C>G (p.Leu555=)
NM_001378452.1(ITPR1):c.1686C>T (p.His562=)
NM_001378452.1(ITPR1):c.1689G>A (p.Ser563=) rs772649946
NM_001378452.1(ITPR1):c.1700A>C (p.Tyr567Ser) rs1131691919
NM_001378452.1(ITPR1):c.1700A>G (p.Tyr567Cys)
NM_001378452.1(ITPR1):c.1705A>G (p.Lys569Glu) rs2125196920
NM_001378452.1(ITPR1):c.1711C>A (p.Gln571Lys)
NM_001378452.1(ITPR1):c.1713+14A>C
NM_001378452.1(ITPR1):c.1713+14A>G
NM_001378452.1(ITPR1):c.1713+16T>C
NM_001378452.1(ITPR1):c.1714-20T>G
NM_001378452.1(ITPR1):c.1714-242G>A rs115673134
NM_001378452.1(ITPR1):c.1714-4A>G
NM_001378452.1(ITPR1):c.1714-6A>G
NM_001378452.1(ITPR1):c.1714-7_1714-5del
NM_001378452.1(ITPR1):c.1744del (p.Gln582fs) rs2125201760
NM_001378452.1(ITPR1):c.1754T>C (p.Ile585Thr) rs2125201780
NM_001378452.1(ITPR1):c.1767G>A (p.Val589=)
NM_001378452.1(ITPR1):c.1781C>T (p.Thr594Ile) rs2125201841
NM_001378452.1(ITPR1):c.178C>G (p.Leu60Val)
NM_001378452.1(ITPR1):c.178C>T (p.Leu60=) rs376974334
NM_001378452.1(ITPR1):c.1791C>T (p.Ala597=)
NM_001378452.1(ITPR1):c.1808G>A (p.Arg603Gln)
NM_001378452.1(ITPR1):c.1813C>A (p.Leu605Ile)
NM_001378452.1(ITPR1):c.1813C>T (p.Leu605Phe) rs1064796252
NM_001378452.1(ITPR1):c.182G>C (p.Cys61Ser) rs1559566851
NM_001378452.1(ITPR1):c.1832C>A (p.Thr611Asn) rs1553682680
NM_001378452.1(ITPR1):c.1834G>A (p.Ala612Thr)
NM_001378452.1(ITPR1):c.1835C>T (p.Ala612Val)
NM_001378452.1(ITPR1):c.1867C>T (p.Arg623Ter)
NM_001378452.1(ITPR1):c.1875C>T (p.Asn625=)
NM_001378452.1(ITPR1):c.1876A>G (p.Arg626Gly) rs2125201991
NM_001378452.1(ITPR1):c.1883C>G (p.Pro628Arg)
NM_001378452.1(ITPR1):c.1886+14G>C
NM_001378452.1(ITPR1):c.1886+6G>T
NM_001378452.1(ITPR1):c.1886+7C>G
NM_001378452.1(ITPR1):c.1886+8G>A
NM_001378452.1(ITPR1):c.1887-3T>C
NM_001378452.1(ITPR1):c.1887-8C>G
NM_001378452.1(ITPR1):c.1887-8_1887-3del rs766242846
NM_001378452.1(ITPR1):c.18T>A (p.Ser6=)
NM_001378452.1(ITPR1):c.1905C>T (p.Ser635=)
NM_001378452.1(ITPR1):c.1909C>A (p.Leu637Ile) rs1553683825
NM_001378452.1(ITPR1):c.1915G>A (p.Val639Ile)
NM_001378452.1(ITPR1):c.1957T>C (p.Cys653Arg)
NM_001378452.1(ITPR1):c.1963G>C (p.Ala655Pro)
NM_001378452.1(ITPR1):c.1972A>G (p.Asn658Asp)
NM_001378452.1(ITPR1):c.1974C>G (p.Asn658Lys)
NM_001378452.1(ITPR1):c.1976C>G (p.Pro659Arg) rs2125206672
NM_001378452.1(ITPR1):c.1984G>A (p.Ala662Thr)
NM_001378452.1(ITPR1):c.1986T>A (p.Ala662=)
NM_001378452.1(ITPR1):c.1992C>A (p.Ile664=)
NM_001378452.1(ITPR1):c.199T>G (p.Ser67Ala)
NM_001378452.1(ITPR1):c.2006+14C>T
NM_001378452.1(ITPR1):c.2006+16G>C
NM_001378452.1(ITPR1):c.2006+8G>T
NM_001378452.1(ITPR1):c.2007-141T>C rs112999071
NM_001378452.1(ITPR1):c.2007-15C>T
NM_001378452.1(ITPR1):c.2007-21CCT[2] rs1192769249
NM_001378452.1(ITPR1):c.2007-2A>G
NM_001378452.1(ITPR1):c.2007-7T>C
NM_001378452.1(ITPR1):c.2007-9G>C
NM_001378452.1(ITPR1):c.2020C>T (p.Arg674Cys)
NM_001378452.1(ITPR1):c.2021G>A (p.Arg674His)
NM_001378452.1(ITPR1):c.2027A>C (p.Glu676Ala)
NM_001378452.1(ITPR1):c.2036G>A (p.Gly679Asp)
NM_001378452.1(ITPR1):c.2036G>T (p.Gly679Val)
NM_001378452.1(ITPR1):c.2038G>T (p.Val680Phe)
NM_001378452.1(ITPR1):c.2053G>A (p.Glu685Lys)
NM_001378452.1(ITPR1):c.2054A>G (p.Glu685Gly) rs756830183
NM_001378452.1(ITPR1):c.2079C>T (p.Asp693=)
NM_001378452.1(ITPR1):c.2096T>A (p.Leu699Gln) rs2125208733
NM_001378452.1(ITPR1):c.2097G>C (p.Leu699=)
NM_001378452.1(ITPR1):c.20G>A (p.Ser7Asn)
NM_001378452.1(ITPR1):c.2109C>T (p.Asp703=)
NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn) rs373694009
NM_001378452.1(ITPR1):c.2112C>G (p.Ser704Arg)
NM_001378452.1(ITPR1):c.2124T>C (p.Ile708=)
NM_001378452.1(ITPR1):c.2129G>A (p.Ser710Asn)
NM_001378452.1(ITPR1):c.2136T>C (p.Ser712=)
NM_001378452.1(ITPR1):c.2145A>G (p.Glu715=)
NM_001378452.1(ITPR1):c.2171A>G (p.Gln724Arg)
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr) rs797045632
NM_001378452.1(ITPR1):c.2175G>T (p.Lys725Asn)
NM_001378452.1(ITPR1):c.2183G>A (p.Arg728Gln)
NM_001378452.1(ITPR1):c.2191C>T (p.Leu731Phe)
NM_001378452.1(ITPR1):c.2204+14G>A rs529693973
NM_001378452.1(ITPR1):c.2204+14G>C rs529693973
NM_001378452.1(ITPR1):c.2204+14G>T
NM_001378452.1(ITPR1):c.2204+14_2204+44del
NM_001378452.1(ITPR1):c.2204+15T>C
NM_001378452.1(ITPR1):c.2204+17_2204+18del
NM_001378452.1(ITPR1):c.2205-19C>G
NM_001378452.1(ITPR1):c.2247A>G (p.Gln749=)
NM_001378452.1(ITPR1):c.2260A>C (p.Asn754His)
NM_001378452.1(ITPR1):c.2261A>G (p.Asn754Ser)
NM_001378452.1(ITPR1):c.2262C>T (p.Asn754=)
NM_001378452.1(ITPR1):c.2296C>A (p.Leu766Ile)
NM_001378452.1(ITPR1):c.22T>C (p.Phe8Leu)
NM_001378452.1(ITPR1):c.2313C>T (p.Asp771=)
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly) rs997975841
NM_001378452.1(ITPR1):c.2340G>T (p.Ala780=) rs748274420
NM_001378452.1(ITPR1):c.2351G>A (p.Arg784His)
NM_001378452.1(ITPR1):c.2377C>T (p.Arg793Ter) rs2125214086
NM_001378452.1(ITPR1):c.2399C>A (p.Thr800Asn)
NM_001378452.1(ITPR1):c.2399C>T (p.Thr800Ile) rs768078525
NM_001378452.1(ITPR1):c.2403C>T (p.Pro801=)
NM_001378452.1(ITPR1):c.2412T>C (p.Tyr804=)
NM_001378452.1(ITPR1):c.2418C>A (p.Arg806=)
NM_001378452.1(ITPR1):c.2418C>T (p.Arg806=)
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.2427G>C (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.2438C>T (p.Ser813Leu)
NM_001378452.1(ITPR1):c.2442G>T (p.Glu814Asp)
NM_001378452.1(ITPR1):c.2447C>T (p.Ala816Val)
NM_001378452.1(ITPR1):c.2451T>A (p.Ile817=)
NM_001378452.1(ITPR1):c.2452G>A (p.Asp818Asn)
NM_001378452.1(ITPR1):c.2454C>T (p.Asp818=)
NM_001378452.1(ITPR1):c.2456+10G>T
NM_001378452.1(ITPR1):c.2456+13C>T
NM_001378452.1(ITPR1):c.2456+191TTTG[3] rs58112934
NM_001378452.1(ITPR1):c.2457-15C>A
NM_001378452.1(ITPR1):c.2457-3C>G
NM_001378452.1(ITPR1):c.2468G>C (p.Ser823Thr)
NM_001378452.1(ITPR1):c.2475T>C (p.Ala825=)
NM_001378452.1(ITPR1):c.2487A>T (p.Glu829Asp)
NM_001378452.1(ITPR1):c.248C>G (p.Thr83Ser)
NM_001378452.1(ITPR1):c.2495A>G (p.Glu832Gly) rs2125216069
NM_001378452.1(ITPR1):c.2526G>A (p.Glu842=)
NM_001378452.1(ITPR1):c.2531A>G (p.Tyr844Cys)
NM_001378452.1(ITPR1):c.2543T>C (p.Val848Ala)
NM_001378452.1(ITPR1):c.2558T>A (p.Phe853Tyr)
NM_001378452.1(ITPR1):c.2575G>C (p.Glu859Gln)
NM_001378452.1(ITPR1):c.2591C>T (p.Thr864Met) rs747510246
NM_001378452.1(ITPR1):c.2592G>A (p.Thr864=)
NM_001378452.1(ITPR1):c.2599-218del rs199718709
NM_001378452.1(ITPR1):c.2599-218dup rs199718709
NM_001378452.1(ITPR1):c.2602G>T (p.Val868Leu)
NM_001378452.1(ITPR1):c.2617A>G (p.Asn873Asp)
NM_001378452.1(ITPR1):c.2631T>C (p.Phe877=) rs745533334
NM_001378452.1(ITPR1):c.2659C>G (p.Arg887Gly)
NM_001378452.1(ITPR1):c.2664A>G (p.Leu888=)
NM_001378452.1(ITPR1):c.2676T>A (p.Leu892=) rs2094158249
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val) rs750473506
NM_001378452.1(ITPR1):c.2686T>C (p.Leu896=)
NM_001378452.1(ITPR1):c.268A>C (p.Asn90His)
NM_001378452.1(ITPR1):c.2697A>C (p.Val899=)
NM_001378452.1(ITPR1):c.2706A>G (p.Thr902=)
NM_001378452.1(ITPR1):c.2707A>C (p.Thr903Pro)
NM_001378452.1(ITPR1):c.2707A>G (p.Thr903Ala)
NM_001378452.1(ITPR1):c.2711T>C (p.Ile904Thr)
NM_001378452.1(ITPR1):c.2720T>C (p.Ile907Thr)
NM_001378452.1(ITPR1):c.2722A>G (p.Ser908Gly)
NM_001378452.1(ITPR1):c.2724C>G (p.Ser908Arg)
NM_001378452.1(ITPR1):c.2734A>C (p.Lys912Gln)
NM_001378452.1(ITPR1):c.273A>C (p.Lys91Asn)
NM_001378452.1(ITPR1):c.2748T>C (p.Asn916=)
NM_001378452.1(ITPR1):c.2752G>A (p.Gly918Ser)
NM_001378452.1(ITPR1):c.2753G>A (p.Gly918Asp) rs775249713
NM_001378452.1(ITPR1):c.2759A>G (p.Asn920Ser)
NM_001378452.1(ITPR1):c.2762A>T (p.Asp921Val)
NM_001378452.1(ITPR1):c.2770A>G (p.Lys924Glu)
NM_001378452.1(ITPR1):c.2773C>G (p.Leu925Val) rs761743436
NM_001378452.1(ITPR1):c.2780-6T>G
NM_001378452.1(ITPR1):c.2787C>T (p.Asn929=)
NM_001378452.1(ITPR1):c.279+11C>T
NM_001378452.1(ITPR1):c.279+130G>A rs2307067
NM_001378452.1(ITPR1):c.279+13A>G
NM_001378452.1(ITPR1):c.279+155G>C rs2307066
NM_001378452.1(ITPR1):c.279+16G>A
NM_001378452.1(ITPR1):c.279+18G>C rs1266284169
NM_001378452.1(ITPR1):c.279+20_279+31del
NM_001378452.1(ITPR1):c.279+4C>G
NM_001378452.1(ITPR1):c.279+4C>T
NM_001378452.1(ITPR1):c.279C>A (p.His93Gln)
NM_001378452.1(ITPR1):c.280-16T>C
NM_001378452.1(ITPR1):c.2805T>C (p.His935=)
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.282C>T (p.His94=)
NM_001378452.1(ITPR1):c.2859C>T (p.Pro953=)
NM_001378452.1(ITPR1):c.2891A>G (p.Asn964Ser)
NM_001378452.1(ITPR1):c.2892T>G (p.Asn964Lys)
NM_001378452.1(ITPR1):c.2902G>A (p.Ala968Thr)
NM_001378452.1(ITPR1):c.2903C>T (p.Ala968Val)
NM_001378452.1(ITPR1):c.2911G>C (p.Glu971Gln)
NM_001378452.1(ITPR1):c.2922C>T (p.Asp974=)
NM_001378452.1(ITPR1):c.2923A>G (p.Ile975Val)
NM_001378452.1(ITPR1):c.2946G>A (p.Leu982=)
NM_001378452.1(ITPR1):c.2954T>C (p.Ile985Thr)
NM_001378452.1(ITPR1):c.2967+11G>C
NM_001378452.1(ITPR1):c.2967+153C>G rs115272198
NM_001378452.1(ITPR1):c.2967+16A>G
NM_001378452.1(ITPR1):c.2967+186C>G rs4685796
NM_001378452.1(ITPR1):c.2967+23del
NM_001378452.1(ITPR1):c.2967+5C>A rs372969151
NM_001378452.1(ITPR1):c.2T>C (p.Met1Thr) rs1575381029
NM_001378452.1(ITPR1):c.3009C>T (p.Leu1003=)
NM_001378452.1(ITPR1):c.3014G>A (p.Cys1005Tyr)
NM_001378452.1(ITPR1):c.3025C>T (p.Arg1009Ter)
NM_001378452.1(ITPR1):c.303G>C (p.Lys101Asn)
NM_001378452.1(ITPR1):c.3063A>G (p.Thr1021=)
NM_001378452.1(ITPR1):c.306G>A (p.Gln102=)
NM_001378452.1(ITPR1):c.3076A>G (p.Ser1026Gly)
NM_001378452.1(ITPR1):c.3076A>T (p.Ser1026Cys)
NM_001378452.1(ITPR1):c.3078C>A (p.Ser1026Arg) rs2125227783
NM_001378452.1(ITPR1):c.3079A>G (p.Ser1027Gly) rs1235735557
NM_001378452.1(ITPR1):c.3080G>T (p.Ser1027Ile)
NM_001378452.1(ITPR1):c.3088G>A (p.Gly1030Arg)
NM_001378452.1(ITPR1):c.3089G>A (p.Gly1030Glu)
NM_001378452.1(ITPR1):c.3095G>A (p.Ser1032Asn)
NM_001378452.1(ITPR1):c.3098A>G (p.Asn1033Ser)
NM_001378452.1(ITPR1):c.3100G>A (p.Val1034Ile)
NM_001378452.1(ITPR1):c.3103C>T (p.Pro1035Ser)
NM_001378452.1(ITPR1):c.3107-15G>A
NM_001378452.1(ITPR1):c.3107-92A>G rs4684438
NM_001378452.1(ITPR1):c.3108T>G (p.Gly1036=)
NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His) rs771308450
NM_001378452.1(ITPR1):c.3129T>G (p.Ile1043Met)
NM_001378452.1(ITPR1):c.3134A>C (p.Glu1045Ala)
NM_001378452.1(ITPR1):c.3138A>G (p.Gln1046=)
NM_001378452.1(ITPR1):c.3161+224_3161+225insATGTGTGTGTGTGT rs1559683069
NM_001378452.1(ITPR1):c.3161+248A>G rs7628064
NM_001378452.1(ITPR1):c.3161+3A>G
NM_001378452.1(ITPR1):c.3161+7A>T
NM_001378452.1(ITPR1):c.3162-12G>C rs752879408
NM_001378452.1(ITPR1):c.3162-15C>T
NM_001378452.1(ITPR1):c.3162-18C>T
NM_001378452.1(ITPR1):c.3163G>A (p.Glu1055Lys) rs2125232528
NM_001378452.1(ITPR1):c.3171C>T (p.Asn1057=)
NM_001378452.1(ITPR1):c.3174C>T (p.Thr1058=)
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser)
NM_001378452.1(ITPR1):c.3181G>A (p.Asp1061Asn)
NM_001378452.1(ITPR1):c.3196G>T (p.Gly1066Cys)
NM_001378452.1(ITPR1):c.3198C>T (p.Gly1066=)
NM_001378452.1(ITPR1):c.3207C>A (p.Thr1069=)
NM_001378452.1(ITPR1):c.3214C>T (p.Arg1072Cys)
NM_001378452.1(ITPR1):c.3261A>C (p.Ser1087=) rs1574844161
NM_001378452.1(ITPR1):c.3261_3262del (p.Ala1089fs)
NM_001378452.1(ITPR1):c.326A>C (p.Lys109Thr)
NM_001378452.1(ITPR1):c.3270G>T (p.Leu1090=)
NM_001378452.1(ITPR1):c.3272A>G (p.Gln1091Arg) rs2125232682
NM_001378452.1(ITPR1):c.3279C>A (p.Leu1093=)
NM_001378452.1(ITPR1):c.3283C>A (p.Arg1095=)
NM_001378452.1(ITPR1):c.3283C>T (p.Arg1095Trp) rs752791333
NM_001378452.1(ITPR1):c.3284G>A (p.Arg1095Gln) rs2125232715
NM_001378452.1(ITPR1):c.3294C>T (p.Ser1098=)
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=) rs2094337722
NM_001378452.1(ITPR1):c.3327+18C>G
NM_001378452.1(ITPR1):c.3327+19G>A
NM_001378452.1(ITPR1):c.3327+19G>T
NM_001378452.1(ITPR1):c.3327+4G>T
NM_001378452.1(ITPR1):c.3327+7C>T
NM_001378452.1(ITPR1):c.3327+8A>G
NM_001378452.1(ITPR1):c.3328-10G>A
NM_001378452.1(ITPR1):c.3328-17G>A
NM_001378452.1(ITPR1):c.3362A>C (p.Asn1121Thr)
NM_001378452.1(ITPR1):c.336G>A (p.Gly112=)
NM_001378452.1(ITPR1):c.3375C>A (p.Ile1125=)
NM_001378452.1(ITPR1):c.3376A>C (p.Lys1126Gln)
NM_001378452.1(ITPR1):c.3377A>G (p.Lys1126Arg)
NM_001378452.1(ITPR1):c.3379C>G (p.Gln1127Glu)
NM_001378452.1(ITPR1):c.339C>T (p.Thr113=)
NM_001378452.1(ITPR1):c.33T>C (p.Ile11=)
NM_001378452.1(ITPR1):c.3406G>A (p.Val1136Met)
NM_001378452.1(ITPR1):c.340G>A (p.Val114Ile)
NM_001378452.1(ITPR1):c.3410A>G (p.Glu1137Gly)
NM_001378452.1(ITPR1):c.3437G>A (p.Gly1146Glu)
NM_001378452.1(ITPR1):c.3448G>A (p.Asp1150Asn)
NM_001378452.1(ITPR1):c.3458T>C (p.Met1153Thr)
NM_001378452.1(ITPR1):c.3460G>T (p.Asp1154Tyr)
NM_001378452.1(ITPR1):c.3473G>T (p.Gly1158Val)
NM_001378452.1(ITPR1):c.3484C>T (p.His1162Tyr) rs751978872
NM_001378452.1(ITPR1):c.3485A>G (p.His1162Arg) rs1222841771
NM_001378452.1(ITPR1):c.3497A>C (p.Glu1166Ala)
NM_001378452.1(ITPR1):c.3498+11C>T
NM_001378452.1(ITPR1):c.3498+139del rs3215005
NM_001378452.1(ITPR1):c.3498+13C>A rs756669707
NM_001378452.1(ITPR1):c.3498+73G>C rs17710726
NM_001378452.1(ITPR1):c.3498+8A>C
NM_001378452.1(ITPR1):c.3499-8G>C
NM_001378452.1(ITPR1):c.3513G>T (p.Lys1171Asn)
NM_001378452.1(ITPR1):c.351T>C (p.Tyr117=)
NM_001378452.1(ITPR1):c.3522G>T (p.Lys1174Asn) rs771026165
NM_001378452.1(ITPR1):c.3524A>C (p.His1175Pro)
NM_001378452.1(ITPR1):c.3541T>C (p.Tyr1181His)
NM_001378452.1(ITPR1):c.3543C>T (p.Tyr1181=)
NM_001378452.1(ITPR1):c.3561A>G (p.Lys1187=)
NM_001378452.1(ITPR1):c.3564+14C>G
NM_001378452.1(ITPR1):c.3564+16_3564+17del
NM_001378452.1(ITPR1):c.3564+17C>T
NM_001378452.1(ITPR1):c.3564+20C>A
NM_001378452.1(ITPR1):c.3564+243C>T rs17041201
NM_001378452.1(ITPR1):c.3565-17T>C rs760881384
NM_001378452.1(ITPR1):c.3565-20G>A
NM_001378452.1(ITPR1):c.3565-5A>G
NM_001378452.1(ITPR1):c.356A>G (p.Asn119Ser)
NM_001378452.1(ITPR1):c.3573T>A (p.Ile1191=)
NM_001378452.1(ITPR1):c.3574C>T (p.Arg1192Trp)
NM_001378452.1(ITPR1):c.3575G>A (p.Arg1192Gln)
NM_001378452.1(ITPR1):c.3589T>G (p.Cys1197Gly)
NM_001378452.1(ITPR1):c.3590G>C (p.Cys1197Ser)
NM_001378452.1(ITPR1):c.3600G>C (p.Glu1200Asp)
NM_001378452.1(ITPR1):c.3602G>A (p.Ser1201Asn)
NM_001378452.1(ITPR1):c.3605C>T (p.Ala1202Val)
NM_001378452.1(ITPR1):c.3607T>C (p.Ser1203Pro)
NM_001378452.1(ITPR1):c.3613A>G (p.Arg1205Gly)
NM_001378452.1(ITPR1):c.361A>G (p.Ile121Val)
NM_001378452.1(ITPR1):c.361A>T (p.Ile121Phe) rs532037891
NM_001378452.1(ITPR1):c.3621C>G (p.Ser1207Arg)
NM_001378452.1(ITPR1):c.3631C>A (p.Gln1211Lys)
NM_001378452.1(ITPR1):c.3641T>G (p.Leu1214Arg) rs2125235641
NM_001378452.1(ITPR1):c.3647G>A (p.Arg1216Gln)
NM_001378452.1(ITPR1):c.3654G>C (p.Met1218Ile)
NM_001378452.1(ITPR1):c.3656G>A (p.Gly1219Asp) rs1374546397
NM_001378452.1(ITPR1):c.3658G>A (p.Ala1220Thr)
NM_001378452.1(ITPR1):c.366+15C>T rs145989158
NM_001378452.1(ITPR1):c.366+6T>A rs1559591437
NM_001378452.1(ITPR1):c.3663C>T (p.His1221=)
NM_001378452.1(ITPR1):c.3665C>G (p.Ala1222Gly)
NM_001378452.1(ITPR1):c.3665C>T (p.Ala1222Val)
NM_001378452.1(ITPR1):c.367-13G>T
NM_001378452.1(ITPR1):c.367-171G>C rs4685784
NM_001378452.1(ITPR1):c.367-20T>G
NM_001378452.1(ITPR1):c.3693C>G (p.Pro1231=)
NM_001378452.1(ITPR1):c.3702+16T>A
NM_001378452.1(ITPR1):c.3702+19A>G
NM_001378452.1(ITPR1):c.3702+1G>A rs2125235756
NM_001378452.1(ITPR1):c.3702+20C>T
NM_001378452.1(ITPR1):c.3702+6C>T rs542846100
NM_001378452.1(ITPR1):c.3702+7G>A
NM_001378452.1(ITPR1):c.3703-11C>T
NM_001378452.1(ITPR1):c.3703-2A>G rs2125241261
NM_001378452.1(ITPR1):c.3703-310G>T rs138529808
NM_001378452.1(ITPR1):c.3703-337A>G rs2686624
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3706G>A (p.Glu1236Lys)
NM_001378452.1(ITPR1):c.370C>T (p.Leu124=)
NM_001378452.1(ITPR1):c.3711T>C (p.Asp1237=)
NM_001378452.1(ITPR1):c.3716A>G (p.Lys1239Arg)
NM_001378452.1(ITPR1):c.3727A>T (p.Ile1243Leu)
NM_001378452.1(ITPR1):c.372G>A (p.Leu124=)
NM_001378452.1(ITPR1):c.3739G>T (p.Ala1247Ser)
NM_001378452.1(ITPR1):c.3740C>A (p.Ala1247Asp)
NM_001378452.1(ITPR1):c.3756G>A (p.Gln1252=)
NM_001378452.1(ITPR1):c.3759T>C (p.Asn1253=)
NM_001378452.1(ITPR1):c.3768A>G (p.Ala1256=)
NM_001378452.1(ITPR1):c.3795A>G (p.Leu1265=) rs1417859810
NM_001378452.1(ITPR1):c.3796C>T (p.His1266Tyr)
NM_001378452.1(ITPR1):c.3826G>T (p.Gly1276Trp)
NM_001378452.1(ITPR1):c.3828+17A>G
NM_001378452.1(ITPR1):c.3828+17A>T
NM_001378452.1(ITPR1):c.3828+21_3828+28del
NM_001378452.1(ITPR1):c.3828+6A>T
NM_001378452.1(ITPR1):c.3829-10C>G
NM_001378452.1(ITPR1):c.3836A>C (p.Glu1279Ala)
NM_001378452.1(ITPR1):c.3840A>G (p.Ala1280=)
NM_001378452.1(ITPR1):c.3849G>A (p.Met1283Ile)
NM_001378452.1(ITPR1):c.3852G>A (p.Gln1284=)
NM_001378452.1(ITPR1):c.3861C>A (p.Phe1287Leu)
NM_001378452.1(ITPR1):c.3871T>C (p.Phe1291Leu)
NM_001378452.1(ITPR1):c.3872T>G (p.Phe1291Cys) rs1574879586
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.3889A>G (p.Ile1297Val)
NM_001378452.1(ITPR1):c.3893A>T (p.Asn1298Ile)
NM_001378452.1(ITPR1):c.3900A>G (p.Arg1300=)
NM_001378452.1(ITPR1):c.3909G>C (p.Gln1303His)
NM_001378452.1(ITPR1):c.3912C>A (p.His1304Gln)
NM_001378452.1(ITPR1):c.3912C>G (p.His1304Gln) rs556943368
NM_001378452.1(ITPR1):c.3925A>G (p.Ile1309Val)
NM_001378452.1(ITPR1):c.3926T>G (p.Ile1309Arg)
NM_001378452.1(ITPR1):c.3937G>A (p.Gly1313Ser)
NM_001378452.1(ITPR1):c.3950A>C (p.Gln1317Pro)
NM_001378452.1(ITPR1):c.3958A>G (p.Lys1320Glu)
NM_001378452.1(ITPR1):c.3962T>A (p.Phe1321Tyr)
NM_001378452.1(ITPR1):c.3982G>A (p.Ala1328Thr)
NM_001378452.1(ITPR1):c.4026C>T (p.Ala1342=)
NM_001378452.1(ITPR1):c.4029+20G>A rs2125245727
NM_001378452.1(ITPR1):c.4030-13G>A
NM_001378452.1(ITPR1):c.4030-18A>T
NM_001378452.1(ITPR1):c.4030-3T>C
NM_001378452.1(ITPR1):c.4038T>C (p.Asn1346=)
NM_001378452.1(ITPR1):c.4041G>A (p.Ser1347=)
NM_001378452.1(ITPR1):c.4050T>C (p.Asp1350=)
NM_001378452.1(ITPR1):c.4057G>A (p.Val1353Met)
NM_001378452.1(ITPR1):c.4069G>A (p.Asp1357Asn)
NM_001378452.1(ITPR1):c.4080T>C (p.Ser1360=)
NM_001378452.1(ITPR1):c.4083C>A (p.Phe1361Leu) rs763239856
NM_001378452.1(ITPR1):c.4083C>G (p.Phe1361Leu)
NM_001378452.1(ITPR1):c.4094T>A (p.Ile1365Asn)
NM_001378452.1(ITPR1):c.4095C>T (p.Ile1365=)
NM_001378452.1(ITPR1):c.4106G>A (p.Arg1369Gln)
NM_001378452.1(ITPR1):c.4106G>C (p.Arg1369Pro)
NM_001378452.1(ITPR1):c.4112A>G (p.Glu1371Gly)
NM_001378452.1(ITPR1):c.4115G>A (p.Arg1372Gln) rs2125249432
NM_001378452.1(ITPR1):c.4121G>A (p.Arg1374Gln)
NM_001378452.1(ITPR1):c.4125G>A (p.Met1375Ile)
NM_001378452.1(ITPR1):c.4126G>A (p.Asp1376Asn)
NM_001378452.1(ITPR1):c.4135A>G (p.Ser1379Gly) rs2125249461
NM_001378452.1(ITPR1):c.4141C>G (p.Leu1381Val)
NM_001378452.1(ITPR1):c.4157A>T (p.His1386Leu) rs1172066127
NM_001378452.1(ITPR1):c.4164C>G (p.Val1388=)
NM_001378452.1(ITPR1):c.4185G>A (p.Thr1395=)
NM_001378452.1(ITPR1):c.4221C>T (p.Asn1407=)
NM_001378452.1(ITPR1):c.4223C>T (p.Ser1408Phe)
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=) rs555819278
NM_001378452.1(ITPR1):c.4234C>T (p.Leu1412=)
NM_001378452.1(ITPR1):c.4237G>C (p.Asp1413His)
NM_001378452.1(ITPR1):c.4243A>G (p.Ile1415Val)
NM_001378452.1(ITPR1):c.4245C>A (p.Ile1415=)
NM_001378452.1(ITPR1):c.4245C>T (p.Ile1415=)
NM_001378452.1(ITPR1):c.4252G>A (p.Val1418Met)
NM_001378452.1(ITPR1):c.4252G>T (p.Val1418Leu)
NM_001378452.1(ITPR1):c.4263C>T (p.His1421=)
NM_001378452.1(ITPR1):c.4270T>G (p.Cys1424Gly)
NM_001378452.1(ITPR1):c.4281+12C>T
NM_001378452.1(ITPR1):c.4281+14G>A
NM_001378452.1(ITPR1):c.4281+18G>T
NM_001378452.1(ITPR1):c.4281+6C>T
NM_001378452.1(ITPR1):c.4281+9G>A
NM_001378452.1(ITPR1):c.4282-10T>C
NM_001378452.1(ITPR1):c.4282-9A>G
NM_001378452.1(ITPR1):c.4296C>T (p.Tyr1432=)
NM_001378452.1(ITPR1):c.4308G>A (p.Leu1436=) rs1285540328
NM_001378452.1(ITPR1):c.4308G>T (p.Leu1436=) rs1285540328
NM_001378452.1(ITPR1):c.4351T>C (p.Tyr1451His)
NM_001378452.1(ITPR1):c.4377G>T (p.Leu1459Phe) rs566552796
NM_001378452.1(ITPR1):c.4381G>A (p.Glu1461Lys)
NM_001378452.1(ITPR1):c.4390C>G (p.Leu1464Val)
NM_001378452.1(ITPR1):c.4395A>G (p.Val1465=)
NM_001378452.1(ITPR1):c.4403_4407+2del
NM_001378452.1(ITPR1):c.4407+11T>C
NM_001378452.1(ITPR1):c.4407+14A>C
NM_001378452.1(ITPR1):c.4407+184_4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+185_4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+186_4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+187_4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+44GT[17] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[18] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[20] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[21] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[22] rs35795762
NM_001378452.1(ITPR1):c.4407+56_4407+57insAGTGTGTG rs773610457
NM_001378452.1(ITPR1):c.4407+8T>A
NM_001378452.1(ITPR1):c.4408-16C>T
NM_001378452.1(ITPR1):c.4408-291C>T rs79905400
NM_001378452.1(ITPR1):c.4408-3C>T
NM_001378452.1(ITPR1):c.4408-9G>A
NM_001378452.1(ITPR1):c.4424G>A (p.Ser1475Asn)
NM_001378452.1(ITPR1):c.4424G>T (p.Ser1475Ile) rs1206311675
NM_001378452.1(ITPR1):c.4439C>A (p.Ala1480Glu)
NM_001378452.1(ITPR1):c.4439C>G (p.Ala1480Gly)
NM_001378452.1(ITPR1):c.4445C>T (p.Ser1482Leu)
NM_001378452.1(ITPR1):c.4446G>A (p.Ser1482=)
NM_001378452.1(ITPR1):c.4455G>C (p.Glu1485Asp) rs753039414
NM_001378452.1(ITPR1):c.4464C>T (p.Val1488=)
NM_001378452.1(ITPR1):c.4466C>T (p.Thr1489Ile)
NM_001378452.1(ITPR1):c.4467C>T (p.Thr1489=)
NM_001378452.1(ITPR1):c.4468G>A (p.Glu1490Lys)
NM_001378452.1(ITPR1):c.447C>T (p.Val149=)
NM_001378452.1(ITPR1):c.4483A>T (p.Ile1495Phe)
NM_001378452.1(ITPR1):c.4492A>G (p.Thr1498Ala)
NM_001378452.1(ITPR1):c.4493C>G (p.Thr1498Ser)
NM_001378452.1(ITPR1):c.4502G>C (p.Ser1501Thr)
NM_001378452.1(ITPR1):c.4503C>A (p.Ser1501Arg)
NM_001378452.1(ITPR1):c.451T>C (p.Leu151=)
NM_001378452.1(ITPR1):c.4526C>G (p.Thr1509Arg) rs370021605
NM_001378452.1(ITPR1):c.4526C>T (p.Thr1509Met)
NM_001378452.1(ITPR1):c.4527G>A (p.Thr1509=)
NM_001378452.1(ITPR1):c.4530T>G (p.Thr1510=)
NM_001378452.1(ITPR1):c.4536+17G>A
NM_001378452.1(ITPR1):c.4537-10C>T
NM_001378452.1(ITPR1):c.4537-17C>G
NM_001378452.1(ITPR1):c.4537-20C>A
NM_001378452.1(ITPR1):c.4537-20C>T
NM_001378452.1(ITPR1):c.4537-35C>G rs373386227
NM_001378452.1(ITPR1):c.4538C>G (p.Thr1513Ser)
NM_001378452.1(ITPR1):c.4545G>A (p.Gln1515=)
NM_001378452.1(ITPR1):c.456C>T (p.Asp152=)
NM_001378452.1(ITPR1):c.4571G>C (p.Gly1524Ala)
NM_001378452.1(ITPR1):c.4583T>C (p.Val1528Ala)
NM_001378452.1(ITPR1):c.458A>G (p.Glu153Gly) rs1414031340
NM_001378452.1(ITPR1):c.4595A>G (p.Asn1532Ser)
NM_001378452.1(ITPR1):c.4606C>T (p.Pro1536Ser)
NM_001378452.1(ITPR1):c.4624G>A (p.Val1542Met)
NM_001378452.1(ITPR1):c.4633T>A (p.Cys1545Ser) rs1559731146
NM_001378452.1(ITPR1):c.4633T>C (p.Cys1545Arg)
NM_001378452.1(ITPR1):c.4639C>T (p.Arg1547Trp)
NM_001378452.1(ITPR1):c.4645C>A (p.Leu1549Met)
NM_001378452.1(ITPR1):c.4655T>G (p.Val1552Gly) rs1252955044
NM_001378452.1(ITPR1):c.4656A>G (p.Val1552=)
NM_001378452.1(ITPR1):c.4657+10del
NM_001378452.1(ITPR1):c.4657+17G>T
NM_001378452.1(ITPR1):c.4657+19T>C
NM_001378452.1(ITPR1):c.4657+201G>A rs17041233
NM_001378452.1(ITPR1):c.4663A>T (p.Ser1555Cys) rs1290207637
NM_001378452.1(ITPR1):c.4665C>T (p.Ser1555=)
NM_001378452.1(ITPR1):c.4666C>T (p.Arg1556Trp)
NM_001378452.1(ITPR1):c.4669G>A (p.Ala1557Thr)
NM_001378452.1(ITPR1):c.466A>G (p.Asn156Asp)
NM_001378452.1(ITPR1):c.4670C>A (p.Ala1557Asp) rs949775870
NM_001378452.1(ITPR1):c.4681C>A (p.Pro1561Thr)
NM_001378452.1(ITPR1):c.4682C>T (p.Pro1561Leu)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.4696A>G (p.Ser1566Gly) rs2125272782
NM_001378452.1(ITPR1):c.4710C>A (p.Asn1570Lys)
NM_001378452.1(ITPR1):c.4731C>T (p.Ser1577=) rs2125272834
NM_001378452.1(ITPR1):c.4740G>T (p.Gln1580His)
NM_001378452.1(ITPR1):c.4759C>T (p.Arg1587Trp)
NM_001378452.1(ITPR1):c.4771C>T (p.Arg1591Cys)
NM_001378452.1(ITPR1):c.4784G>T (p.Arg1595Leu) rs754960125
NM_001378452.1(ITPR1):c.4788G>A (p.Arg1596=)
NM_001378452.1(ITPR1):c.4791C>G (p.Asp1597Glu)
NM_001378452.1(ITPR1):c.4805C>A (p.Ala1602Asp)
NM_001378452.1(ITPR1):c.4810A>G (p.Arg1604Gly)
NM_001378452.1(ITPR1):c.4816T>C (p.Tyr1606His) rs2125272987
NM_001378452.1(ITPR1):c.4820G>A (p.Arg1607Gln)
NM_001378452.1(ITPR1):c.4829T>C (p.Ile1610Thr)
NM_001378452.1(ITPR1):c.4830T>C (p.Ile1610=)
NM_001378452.1(ITPR1):c.4836A>G (p.Arg1612=)
NM_001378452.1(ITPR1):c.4842+12T>C rs2125273040
NM_001378452.1(ITPR1):c.4842+13G>A
NM_001378452.1(ITPR1):c.4842+13G>T
NM_001378452.1(ITPR1):c.4842+2T>C
NM_001378452.1(ITPR1):c.4842+3A>C
NM_001378452.1(ITPR1):c.4842+8C>A
NM_001378452.1(ITPR1):c.4842+8_4842+9del rs2094756568
NM_001378452.1(ITPR1):c.4843-13_4843-12del
NM_001378452.1(ITPR1):c.4843-16T>C
NM_001378452.1(ITPR1):c.4843-19G>T
NM_001378452.1(ITPR1):c.4843-8C>G
NM_001378452.1(ITPR1):c.4855G>A (p.Ala1619Thr)
NM_001378452.1(ITPR1):c.4856C>T (p.Ala1619Val)
NM_001378452.1(ITPR1):c.4864G>A (p.Asp1622Asn)
NM_001378452.1(ITPR1):c.486T>C (p.Tyr162=)
NM_001378452.1(ITPR1):c.4872C>T (p.Leu1624=)
NM_001378452.1(ITPR1):c.487A>G (p.Ile163Val)
NM_001378452.1(ITPR1):c.4906G>A (p.Val1636Met)
NM_001378452.1(ITPR1):c.4912G>T (p.Val1638Phe) rs2125280332
NM_001378452.1(ITPR1):c.4920C>T (p.His1640=)
NM_001378452.1(ITPR1):c.4926C>G (p.Pro1642=)
NM_001378452.1(ITPR1):c.4941A>G (p.Pro1647=)
NM_001378452.1(ITPR1):c.4947C>T (p.Asn1649=)
NM_001378452.1(ITPR1):c.4953C>T (p.Asp1651=)
NM_001378452.1(ITPR1):c.4977C>T (p.Gly1659=)
NM_001378452.1(ITPR1):c.4978G>A (p.Gly1660Ser)
NM_001378452.1(ITPR1):c.4979G>C (p.Gly1660Ala) rs752673732
NM_001378452.1(ITPR1):c.4988G>T (p.Cys1663Phe) rs2125280457
NM_001378452.1(ITPR1):c.4991+12C>A
NM_001378452.1(ITPR1):c.4992-17G>A
NM_001378452.1(ITPR1):c.4992-20G>A
NM_001378452.1(ITPR1):c.4992-7C>G
NM_001378452.1(ITPR1):c.4992-7del rs546612625
NM_001378452.1(ITPR1):c.4992-9C>G
NM_001378452.1(ITPR1):c.4997T>C (p.Ile1666Thr)
NM_001378452.1(ITPR1):c.5001G>T (p.Lys1667Asn)
NM_001378452.1(ITPR1):c.5004T>C (p.His1668=)
NM_001378452.1(ITPR1):c.5006C>A (p.Thr1669Lys) rs2125283014
NM_001378452.1(ITPR1):c.5011C>G (p.Gln1671Glu)
NM_001378452.1(ITPR1):c.501C>T (p.Tyr167=)
NM_001378452.1(ITPR1):c.5023G>A (p.Glu1675Lys)
NM_001378452.1(ITPR1):c.5053C>G (p.Leu1685Val)
NM_001378452.1(ITPR1):c.5056C>T (p.Gln1686Ter)
NM_001378452.1(ITPR1):c.5063T>C (p.Leu1688Pro) rs2125283083
NM_001378452.1(ITPR1):c.5079C>G (p.Thr1693=) rs1248702584
NM_001378452.1(ITPR1):c.5087G>A (p.Arg1696Lys)
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.5103+17T>G
NM_001378452.1(ITPR1):c.5103+2_5103+6del rs2125283159
NM_001378452.1(ITPR1):c.5103+9T>C
NM_001378452.1(ITPR1):c.5104-1G>A rs2125292916
NM_001378452.1(ITPR1):c.5104-5T>G rs775238471
NM_001378452.1(ITPR1):c.5113A>G (p.Ile1705Val)
NM_001378452.1(ITPR1):c.5143C>T (p.Pro1715Ser)
NM_001378452.1(ITPR1):c.515T>C (p.Ile172Thr)
NM_001378452.1(ITPR1):c.5194C>A (p.Leu1732Met) rs370179124
NM_001378452.1(ITPR1):c.5221-15C>A rs2125317871
NM_001378452.1(ITPR1):c.5222G>A (p.Gly1741Asp) rs2125317888
NM_001378452.1(ITPR1):c.5229G>A (p.Ala1743=)
NM_001378452.1(ITPR1):c.525+10G>T rs2125153147
NM_001378452.1(ITPR1):c.525+8C>T
NM_001378452.1(ITPR1):c.5251C>T (p.Arg1751Cys)
NM_001378452.1(ITPR1):c.526-9C>T
NM_001378452.1(ITPR1):c.5261G>A (p.Gly1754Glu)
NM_001378452.1(ITPR1):c.5267T>C (p.Val1756Ala)
NM_001378452.1(ITPR1):c.526G>A (p.Val176Met) rs2125156618
NM_001378452.1(ITPR1):c.5274T>C (p.Pro1758=) rs2125317960
NM_001378452.1(ITPR1):c.5277G>C (p.Ser1759=) rs368425885
NM_001378452.1(ITPR1):c.5279G>A (p.Gly1760Glu)
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) rs2291864
NM_001378452.1(ITPR1):c.5286A>G (p.Arg1762=) rs2125317989
NM_001378452.1(ITPR1):c.5292C>T (p.Ser1764=)
NM_001378452.1(ITPR1):c.5293C>A (p.Leu1765Ile)
NM_001378452.1(ITPR1):c.5296A>T (p.Thr1766Ser)
NM_001378452.1(ITPR1):c.5303T>G (p.Phe1768Cys)
NM_001378452.1(ITPR1):c.5310T>C (p.Asn1770=)
NM_001378452.1(ITPR1):c.5312G>C (p.Gly1771Ala)
NM_001378452.1(ITPR1):c.5318T>C (p.Leu1773Pro)
NM_001378452.1(ITPR1):c.5330G>C (p.Gly1777Ala)
NM_001378452.1(ITPR1):c.5334C>T (p.Pro1778=)
NM_001378452.1(ITPR1):c.5341C>T (p.Pro1781Ser)
NM_001378452.1(ITPR1):c.5342C>G (p.Pro1781Arg)
NM_001378452.1(ITPR1):c.5345G>A (p.Gly1782Glu) rs1202441335
NM_001378452.1(ITPR1):c.5346G>C (p.Gly1782=)
NM_001378452.1(ITPR1):c.5348G>T (p.Gly1783Val)
NM_001378452.1(ITPR1):c.5353+13G>T
NM_001378452.1(ITPR1):c.5353+3A>G
NM_001378452.1(ITPR1):c.5353+5G>A
NM_001378452.1(ITPR1):c.5354-10A>G
NM_001378452.1(ITPR1):c.5354-10A>T
NM_001378452.1(ITPR1):c.5354-19C>A
NM_001378452.1(ITPR1):c.5354-7T>A
NM_001378452.1(ITPR1):c.5354-8C>A rs754119985
NM_001378452.1(ITPR1):c.5354-8C>G
NM_001378452.1(ITPR1):c.5354G>C (p.Gly1785Ala) rs200004069
NM_001378452.1(ITPR1):c.5357G>A (p.Gly1786Glu)
NM_001378452.1(ITPR1):c.5360G>T (p.Gly1787Val)
NM_001378452.1(ITPR1):c.5363C>G (p.Ser1788Cys)
NM_001378452.1(ITPR1):c.5370C>T (p.Ser1790=)
NM_001378452.1(ITPR1):c.5372G>C (p.Ser1791Thr)
NM_001378452.1(ITPR1):c.5375C>T (p.Ser1792Phe)
NM_001378452.1(ITPR1):c.5377A>G (p.Met1793Val)
NM_001378452.1(ITPR1):c.5382C>G (p.Ser1794Arg)
NM_001378452.1(ITPR1):c.5382C>T (p.Ser1794=)
NM_001378452.1(ITPR1):c.5396G>A (p.Ser1799Asn)
NM_001378452.1(ITPR1):c.5407G>A (p.Val1803Ile) rs1575064573
NM_001378452.1(ITPR1):c.5419C>T (p.Leu1807Phe) rs2125321242
NM_001378452.1(ITPR1):c.541A>G (p.Lys181Glu)
NM_001378452.1(ITPR1):c.5425A>G (p.Lys1809Glu)
NM_001378452.1(ITPR1):c.5446G>A (p.Val1816Ile)
NM_001378452.1(ITPR1):c.5451C>T (p.Ile1817=)
NM_001378452.1(ITPR1):c.5452G>A (p.Asp1818Asn)
NM_001378452.1(ITPR1):c.5460C>T (p.Ile1820=)
NM_001378452.1(ITPR1):c.5465A>T (p.Asn1822Ile)
NM_001378452.1(ITPR1):c.5466C>A (p.Asn1822Lys)
NM_001378452.1(ITPR1):c.5467G>A (p.Ala1823Thr)
NM_001378452.1(ITPR1):c.5469A>C (p.Ala1823=)
NM_001378452.1(ITPR1):c.5473A>T (p.Ser1825Cys)
NM_001378452.1(ITPR1):c.5475_5480del (p.Ser1825_Asp1826del)
NM_001378452.1(ITPR1):c.5479C>A (p.Arg1827=)
NM_001378452.1(ITPR1):c.54C>T (p.Tyr18=)
NM_001378452.1(ITPR1):c.5500C>G (p.Leu1834Val)
NM_001378452.1(ITPR1):c.5500C>T (p.Leu1834Phe)
NM_001378452.1(ITPR1):c.5544+16G>A
NM_001378452.1(ITPR1):c.5545-18A>G
NM_001378452.1(ITPR1):c.5545-287A>G rs112026814
NM_001378452.1(ITPR1):c.5556C>T (p.Phe1852=)
NM_001378452.1(ITPR1):c.5560C>T (p.Arg1854Cys)
NM_001378452.1(ITPR1):c.5563T>C (p.Leu1855=)
NM_001378452.1(ITPR1):c.5572G>A (p.Asp1858Asn)
NM_001378452.1(ITPR1):c.5573A>C (p.Asp1858Ala)
NM_001378452.1(ITPR1):c.5576A>C (p.Lys1859Thr)
NM_001378452.1(ITPR1):c.5577G>A (p.Lys1859=)
NM_001378452.1(ITPR1):c.558C>T (p.Pro186=)
NM_001378452.1(ITPR1):c.5595T>A (p.Phe1865Leu)
NM_001378452.1(ITPR1):c.5598G>A (p.Lys1866=)
NM_001378452.1(ITPR1):c.559G>A (p.Val187Ile)
NM_001378452.1(ITPR1):c.55G>A (p.Ala19Thr)
NM_001378452.1(ITPR1):c.5606A>G (p.Tyr1869Cys)
NM_001378452.1(ITPR1):c.5610C>A (p.Asp1870Glu)
NM_001378452.1(ITPR1):c.5611C>T (p.Arg1871Trp)
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile) rs1002376493
NM_001378452.1(ITPR1):c.5621T>C (p.Val1874Ala) rs143093165
NM_001378452.1(ITPR1):c.5636T>A (p.Ile1879Asn)
NM_001378452.1(ITPR1):c.5645C>T (p.Thr1882Ile)
NM_001378452.1(ITPR1):c.5649G>A (p.Val1883=)
NM_001378452.1(ITPR1):c.564T>C (p.Asn188=)
NM_001378452.1(ITPR1):c.5662A>G (p.Ser1888Gly)
NM_001378452.1(ITPR1):c.5678A>G (p.Lys1893Arg) rs577442813
NM_001378452.1(ITPR1):c.5681A>T (p.Lys1894Met) rs2045837616
NM_001378452.1(ITPR1):c.5688C>T (p.Asp1896=)
NM_001378452.1(ITPR1):c.5700C>G (p.Asp1900Glu)
NM_001378452.1(ITPR1):c.5709C>A (p.Ala1903=) rs776704462
NM_001378452.1(ITPR1):c.5715A>G (p.Ser1905=)
NM_001378452.1(ITPR1):c.5716C>T (p.Arg1906Trp)
NM_001378452.1(ITPR1):c.5717G>A (p.Arg1906Gln)
NM_001378452.1(ITPR1):c.5717G>C (p.Arg1906Pro)
NM_001378452.1(ITPR1):c.5725+18T>C
NM_001378452.1(ITPR1):c.5725+4A>T
NM_001378452.1(ITPR1):c.5725+5A>G
NM_001378452.1(ITPR1):c.5726-226T>C rs17041401
NM_001378452.1(ITPR1):c.5726-8C>T
NM_001378452.1(ITPR1):c.5726C>T (p.Ala1909Val)
NM_001378452.1(ITPR1):c.5731G>A (p.Glu1911Lys)
NM_001378452.1(ITPR1):c.5733G>A (p.Glu1911=)
NM_001378452.1(ITPR1):c.5735C>T (p.Pro1912Leu)
NM_001378452.1(ITPR1):c.5739A>G (p.Thr1913=)
NM_001378452.1(ITPR1):c.5770C>T (p.Leu1924Phe) rs2125376319
NM_001378452.1(ITPR1):c.5780C>T (p.Ala1927Val)
NM_001378452.1(ITPR1):c.5794_5802del (p.Arg1932_Ala1934del)
NM_001378452.1(ITPR1):c.5799A>G (p.Lys1933=)
NM_001378452.1(ITPR1):c.5802C>A (p.Ala1934=)
NM_001378452.1(ITPR1):c.5802C>T (p.Ala1934=)
NM_001378452.1(ITPR1):c.5821G>T (p.Glu1941Ter)
NM_001378452.1(ITPR1):c.5825C>T (p.Ala1942Val)
NM_001378452.1(ITPR1):c.5832C>T (p.Pro1944=)
NM_001378452.1(ITPR1):c.5833G>A (p.Asp1945Asn)
NM_001378452.1(ITPR1):c.5836G>A (p.Asp1946Asn)
NM_001378452.1(ITPR1):c.5840A>C (p.His1947Pro) rs763857989
NM_001378452.1(ITPR1):c.5848C>A (p.Pro1950Thr)
NM_001378452.1(ITPR1):c.5850T>G (p.Pro1950=)
NM_001378452.1(ITPR1):c.5858G>A (p.Gly1953Asp) rs2125376483
NM_001378452.1(ITPR1):c.5859C>T (p.Gly1953=)
NM_001378452.1(ITPR1):c.5865G>A (p.Gln1955=)
NM_001378452.1(ITPR1):c.5866G>A (p.Ala1956Thr)
NM_001378452.1(ITPR1):c.5872G>A (p.Ala1958Thr)
NM_001378452.1(ITPR1):c.5874C>A (p.Ala1958=)
NM_001378452.1(ITPR1):c.5874C>T (p.Ala1958=)
NM_001378452.1(ITPR1):c.5881G>A (p.Ala1961Thr)
NM_001378452.1(ITPR1):c.5885A>G (p.Lys1962Arg)
NM_001378452.1(ITPR1):c.5889C>A (p.Asp1963Glu)
NM_001378452.1(ITPR1):c.5890G>A (p.Asp1964Asn)
NM_001378452.1(ITPR1):c.5894T>G (p.Leu1965Arg)
NM_001378452.1(ITPR1):c.5898G>A (p.Glu1966=)
NM_001378452.1(ITPR1):c.5904C>T (p.Ser1968=)
NM_001378452.1(ITPR1):c.5907G>A (p.Ala1969=)
NM_001378452.1(ITPR1):c.5908G>A (p.Val1970Ile)
NM_001378452.1(ITPR1):c.590G>A (p.Ser197Asn)
NM_001378452.1(ITPR1):c.5910C>T (p.Val1970=) rs753430331
NM_001378452.1(ITPR1):c.5915C>A (p.Thr1972Asn)
NM_001378452.1(ITPR1):c.5928C>T (p.Pro1976=)
NM_001378452.1(ITPR1):c.5931C>A (p.Ile1977=)
NM_001378452.1(ITPR1):c.5935C>T (p.Arg1979Cys)
NM_001378452.1(ITPR1):c.5936G>A (p.Arg1979His)
NM_001378452.1(ITPR1):c.5969G>A (p.Arg1990Gln)
NM_001378452.1(ITPR1):c.5972A>G (p.Asp1991Gly) rs781495978
NM_001378452.1(ITPR1):c.5979+125T>G rs13086334
NM_001378452.1(ITPR1):c.5979+154_5979+155del rs796445258
NM_001378452.1(ITPR1):c.5980-15A>G
NM_001378452.1(ITPR1):c.5980-4G>C
NM_001378452.1(ITPR1):c.5990G>A (p.Arg1997His)
NM_001378452.1(ITPR1):c.6015C>T (p.Tyr2005=)
NM_001378452.1(ITPR1):c.6019T>C (p.Leu2007=)
NM_001378452.1(ITPR1):c.6024A>G (p.Val2008=)
NM_001378452.1(ITPR1):c.603A>G (p.Val201=)
NM_001378452.1(ITPR1):c.6072A>T (p.Gly2024=)
NM_001378452.1(ITPR1):c.610C>A (p.Pro204Thr)
NM_001378452.1(ITPR1):c.6111= (p.Asn2037=)
NM_001378452.1(ITPR1):c.6112G>A (p.Val2038Ile)
NM_001378452.1(ITPR1):c.6142C>A (p.Leu2048Met)
NM_001378452.1(ITPR1):c.6148G>A (p.Glu2050Lys) rs2125387220
NM_001378452.1(ITPR1):c.6155G>C (p.Cys2052Ser) rs1553740488
NM_001378452.1(ITPR1):c.6159A>C (p.Gln2053His)
NM_001378452.1(ITPR1):c.6180+19T>C
NM_001378452.1(ITPR1):c.6180+6T>G
NM_001378452.1(ITPR1):c.6181-18G>C
NM_001378452.1(ITPR1):c.6195C>A (p.Thr2065=)
NM_001378452.1(ITPR1):c.6211A>G (p.Ile2071Val)
NM_001378452.1(ITPR1):c.6229C>T (p.Leu2077=)
NM_001378452.1(ITPR1):c.6239A>G (p.Asn2080Ser)
NM_001378452.1(ITPR1):c.624+72C>G rs12330450
NM_001378452.1(ITPR1):c.625-15G>A
NM_001378452.1(ITPR1):c.625-16C>G rs536653326
NM_001378452.1(ITPR1):c.6274C>T (p.Leu2092Phe) rs2125389919
NM_001378452.1(ITPR1):c.6291+2C>T
NM_001378452.1(ITPR1):c.6291+9G>A rs1385142016
NM_001378452.1(ITPR1):c.6292-53C>A rs7653732
NM_001378452.1(ITPR1):c.6292-5A>G
NM_001378452.1(ITPR1):c.6292-8C>G
NM_001378452.1(ITPR1):c.6297T>C (p.Asn2099=)
NM_001378452.1(ITPR1):c.6303G>A (p.Ser2101=)
NM_001378452.1(ITPR1):c.6312C>T (p.Leu2104=)
NM_001378452.1(ITPR1):c.6325G>A (p.Glu2109Lys)
NM_001378452.1(ITPR1):c.6336C>T (p.His2112=)
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
NM_001378452.1(ITPR1):c.633C>T (p.Ser211=)
NM_001378452.1(ITPR1):c.6357G>C (p.Arg2119Ser)
NM_001378452.1(ITPR1):c.6365A>T (p.Tyr2122Phe)
NM_001378452.1(ITPR1):c.636C>T (p.Val212=)
NM_001378452.1(ITPR1):c.6370A>G (p.Met2124Val)
NM_001378452.1(ITPR1):c.6371T>C (p.Met2124Thr)
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val) rs2046693194
NM_001378452.1(ITPR1):c.6387+14C>T
NM_001378452.1(ITPR1):c.6387+7C>T
NM_001378452.1(ITPR1):c.6388-13G>A
NM_001378452.1(ITPR1):c.6388-14G>C
NM_001378452.1(ITPR1):c.6388-15T>G
NM_001378452.1(ITPR1):c.6388-17C>G
NM_001378452.1(ITPR1):c.63A>C (p.Gly21=)
NM_001378452.1(ITPR1):c.6408C>G (p.Ala2136=)
NM_001378452.1(ITPR1):c.6409T>G (p.Tyr2137Asp)
NM_001378452.1(ITPR1):c.6416A>G (p.Gln2139Arg) rs2046910253
NM_001378452.1(ITPR1):c.6419G>A (p.Gly2140Asp) rs2046910377
NM_001378452.1(ITPR1):c.6425T>C (p.Val2142Ala)
NM_001378452.1(ITPR1):c.6427G>A (p.Glu2143Lys)
NM_001378452.1(ITPR1):c.6456T>G (p.Asp2152Glu)
NM_001378452.1(ITPR1):c.6461C>T (p.Ala2154Val)
NM_001378452.1(ITPR1):c.6462G>A (p.Ala2154=)
NM_001378452.1(ITPR1):c.6463G>A (p.Ala2155Thr)
NM_001378452.1(ITPR1):c.6464C>T (p.Ala2155Val) rs2125397931
NM_001378452.1(ITPR1):c.6465G>A (p.Ala2155=)
NM_001378452.1(ITPR1):c.6467C>T (p.Ser2156Phe)
NM_001378452.1(ITPR1):c.647C>T (p.Thr216Ile)
NM_001378452.1(ITPR1):c.6489C>T (p.Asn2163=)
NM_001378452.1(ITPR1):c.6491T>A (p.Ile2164Asn)
NM_001378452.1(ITPR1):c.6505C>T (p.His2169Tyr)
NM_001378452.1(ITPR1):c.6510+20T>G
NM_001378452.1(ITPR1):c.6511-4C>G
NM_001378452.1(ITPR1):c.6517C>T (p.Arg2173Trp)
NM_001378452.1(ITPR1):c.6518G>A (p.Arg2173Gln)
NM_001378452.1(ITPR1):c.6534T>A (p.Leu2178=)
NM_001378452.1(ITPR1):c.6538A>G (p.Ser2180Gly)
NM_001378452.1(ITPR1):c.6550C>T (p.Pro2184Ser)
NM_001378452.1(ITPR1):c.6554G>C (p.Gly2185Ala)
NM_001378452.1(ITPR1):c.6558C>T (p.Gly2186=) rs1256884190
NM_001378452.1(ITPR1):c.6567C>T (p.Asp2189=)
NM_001378452.1(ITPR1):c.6568G>A (p.Gly2190Arg)
NM_001378452.1(ITPR1):c.6572A>G (p.Asp2191Gly)
NM_001378452.1(ITPR1):c.6572A>T (p.Asp2191Val)
NM_001378452.1(ITPR1):c.65C>T (p.Ser22Leu)
NM_001378452.1(ITPR1):c.6605C>T (p.Ala2202Val)
NM_001378452.1(ITPR1):c.6606G>A (p.Ala2202=)
NM_001378452.1(ITPR1):c.6615+11A>G
NM_001378452.1(ITPR1):c.6615+226C>T rs73003089
NM_001378452.1(ITPR1):c.6616-11T>C
NM_001378452.1(ITPR1):c.6616-17C>T
NM_001378452.1(ITPR1):c.6631C>T (p.Arg2211Ter)
NM_001378452.1(ITPR1):c.6639G>A (p.Met2213Ile) rs2125405864
NM_001378452.1(ITPR1):c.6657C>T (p.Pro2219=)
NM_001378452.1(ITPR1):c.6675A>G (p.Glu2225=)
NM_001378452.1(ITPR1):c.6735C>A (p.Gly2245=)
NM_001378452.1(ITPR1):c.6741A>G (p.Lys2247=)
NM_001378452.1(ITPR1):c.6746A>G (p.Asn2249Ser)
NM_001378452.1(ITPR1):c.6771C>G (p.Asp2257Glu) rs748551485
NM_001378452.1(ITPR1):c.6771C>T (p.Asp2257=)
NM_001378452.1(ITPR1):c.6808+12C>A
NM_001378452.1(ITPR1):c.6808+12C>T
NM_001378452.1(ITPR1):c.6808+17C>T
NM_001378452.1(ITPR1):c.6808+276A>G rs6442908
NM_001378452.1(ITPR1):c.6809-15C>T rs774439941
NM_001378452.1(ITPR1):c.6809-5del
NM_001378452.1(ITPR1):c.6812A>G (p.Gln2271Arg) rs1246508094
NM_001378452.1(ITPR1):c.6816C>T (p.Pro2272=)
NM_001378452.1(ITPR1):c.6831T>C (p.Cys2277=)
NM_001378452.1(ITPR1):c.6841A>G (p.Met2281Val)
NM_001378452.1(ITPR1):c.6852G>T (p.Trp2284Cys)
NM_001378452.1(ITPR1):c.6858C>T (p.Ser2286=)
NM_001378452.1(ITPR1):c.6900G>A (p.Ala2300=)
NM_001378452.1(ITPR1):c.6918G>C (p.Lys2306Asn)
NM_001378452.1(ITPR1):c.6924C>T (p.Val2308=)
NM_001378452.1(ITPR1):c.6926G>A (p.Arg2309Gln)
NM_001378452.1(ITPR1):c.6931+6C>T
NM_001378452.1(ITPR1):c.6932-17C>G
NM_001378452.1(ITPR1):c.6933A>G (p.Gly2311=) rs2125423186
NM_001378452.1(ITPR1):c.6935C>A (p.Thr2312Asn)
NM_001378452.1(ITPR1):c.6935C>T (p.Thr2312Ile)
NM_001378452.1(ITPR1):c.6936C>A (p.Thr2312=)
NM_001378452.1(ITPR1):c.6947A>T (p.His2316Leu)
NM_001378452.1(ITPR1):c.694G>A (p.Asp232Asn)
NM_001378452.1(ITPR1):c.6952T>A (p.Ser2318Thr)
NM_001378452.1(ITPR1):c.6953C>T (p.Ser2318Leu)
NM_001378452.1(ITPR1):c.6963G>T (p.Leu2321=)
NM_001378452.1(ITPR1):c.6970G>A (p.Ala2324Thr)
NM_001378452.1(ITPR1):c.6973A>G (p.Met2325Val)
NM_001378452.1(ITPR1):c.6973A>T (p.Met2325Leu)
NM_001378452.1(ITPR1):c.6984T>C (p.Ser2328=)
NM_001378452.1(ITPR1):c.6988G>A (p.Ala2330Thr)
NM_001378452.1(ITPR1):c.6994G>T (p.Val2332Phe)
NM_001378452.1(ITPR1):c.7002C>T (p.Ala2334=)
NM_001378452.1(ITPR1):c.7003C>T (p.Leu2335Phe)
NM_001378452.1(ITPR1):c.7005C>T (p.Leu2335=) rs2125423325
NM_001378452.1(ITPR1):c.7013C>T (p.Pro2338Leu)
NM_001378452.1(ITPR1):c.7023C>T (p.Ile2341=)
NM_001378452.1(ITPR1):c.7024C>T (p.Arg2342Trp)
NM_001378452.1(ITPR1):c.7025G>A (p.Arg2342Gln)
NM_001378452.1(ITPR1):c.7027G>A (p.Ala2343Thr)
NM_001378452.1(ITPR1):c.7029C>T (p.Ala2343=)
NM_001378452.1(ITPR1):c.7042A>G (p.Thr2348Ala) rs753499808
NM_001378452.1(ITPR1):c.7050A>G (p.Leu2350=)
NM_001378452.1(ITPR1):c.7052G>A (p.Arg2351Gln)
NM_001378452.1(ITPR1):c.7066G>A (p.Val2356Ile)
NM_001378452.1(ITPR1):c.7069G>A (p.Gly2357Arg)
NM_001378452.1(ITPR1):c.7073T>G (p.Leu2358Ter)
NM_001378452.1(ITPR1):c.707G>A (p.Gly236Glu)
NM_001378452.1(ITPR1):c.708+15T>A
NM_001378452.1(ITPR1):c.708+18T>C
NM_001378452.1(ITPR1):c.708+18T>G
NM_001378452.1(ITPR1):c.708+20G>A
NM_001378452.1(ITPR1):c.7080C>T (p.Pro2360=)
NM_001378452.1(ITPR1):c.7082C>T (p.Thr2361Met)
NM_001378452.1(ITPR1):c.7083G>A (p.Thr2361=)
NM_001378452.1(ITPR1):c.7085T>G (p.Leu2362Trp)
NM_001378452.1(ITPR1):c.709-5G>A
NM_001378452.1(ITPR1):c.7107+15C>A
NM_001378452.1(ITPR1):c.7107+204G>T rs2291861
NM_001378452.1(ITPR1):c.7108-16del
NM_001378452.1(ITPR1):c.7108-20G>A
NM_001378452.1(ITPR1):c.7108-3C>T
NM_001378452.1(ITPR1):c.7108-8G>T
NM_001378452.1(ITPR1):c.7109T>C (p.Val2370Ala)
NM_001378452.1(ITPR1):c.714C>T (p.Asp238=)
NM_001378452.1(ITPR1):c.7183G>A (p.Val2395Ile)
NM_001378452.1(ITPR1):c.7191T>C (p.Asp2397=)
NM_001378452.1(ITPR1):c.7194T>C (p.Val2398=)
NM_001378452.1(ITPR1):c.7200C>T (p.Phe2400=)
NM_001378452.1(ITPR1):c.7222G>C (p.Val2408Leu)
NM_001378452.1(ITPR1):c.7226T>A (p.Ile2409Asn)
NM_001378452.1(ITPR1):c.7240C>T (p.Leu2414Phe)
NM_001378452.1(ITPR1):c.7246G>C (p.Val2416Leu)
NM_001378452.1(ITPR1):c.7269G>T (p.Leu2423=)
NM_001378452.1(ITPR1):c.7272+10T>G
NM_001378452.1(ITPR1):c.7272+11G>A
NM_001378452.1(ITPR1):c.7272+12G>C
NM_001378452.1(ITPR1):c.7272+14G>A
NM_001378452.1(ITPR1):c.7272+177_7272+193del rs138620196
NM_001378452.1(ITPR1):c.7273-10_7273-7del
NM_001378452.1(ITPR1):c.7273-15del
NM_001378452.1(ITPR1):c.7273-18T>A
NM_001378452.1(ITPR1):c.7273-215A>C rs878135
NM_001378452.1(ITPR1):c.7297G>A (p.Glu2433Lys)
NM_001378452.1(ITPR1):c.7306C>T (p.Leu2436Phe)
NM_001378452.1(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_001378452.1(ITPR1):c.7320A>G (p.Lys2440=)
NM_001378452.1(ITPR1):c.7322G>A (p.Ser2441Asn)
NM_001378452.1(ITPR1):c.7329T>A (p.Thr2443=)
NM_001378452.1(ITPR1):c.7330C>T (p.Arg2444Cys) rs112560414
NM_001378452.1(ITPR1):c.7331G>T (p.Arg2444Leu)
NM_001378452.1(ITPR1):c.7369C>T (p.Leu2457=)
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001378452.1(ITPR1):c.7374C>G (p.Ile2458Met)
NM_001378452.1(ITPR1):c.7377C>T (p.Leu2459=)
NM_001378452.1(ITPR1):c.7378G>A (p.Val2460Ile) rs940526920
NM_001378452.1(ITPR1):c.7403A>T (p.Tyr2468Phe)
NM_001378452.1(ITPR1):c.7405C>G (p.Leu2469Val)
NM_001378452.1(ITPR1):c.741G>A (p.Gln247=)
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.7433A>C (p.Glu2478Ala)
NM_001378452.1(ITPR1):c.7438G>C (p.Asp2480His)
NM_001378452.1(ITPR1):c.7443G>A (p.Arg2481=)
NM_001378452.1(ITPR1):c.7457C>T (p.Thr2486Ile)
NM_001378452.1(ITPR1):c.7462G>A (p.Val2488Ile) rs1399082347
NM_001378452.1(ITPR1):c.7465C>T (p.Pro2489Ser)
NM_001378452.1(ITPR1):c.7468+14C>G
NM_001378452.1(ITPR1):c.7470A>G (p.Glu2490=)
NM_001378452.1(ITPR1):c.7473C>G (p.Thr2491=)
NM_001378452.1(ITPR1):c.7473C>T (p.Thr2491=)
NM_001378452.1(ITPR1):c.7475G>A (p.Gly2492Asp)
NM_001378452.1(ITPR1):c.7476C>A (p.Gly2492=)
NM_001378452.1(ITPR1):c.7477G>A (p.Glu2493Lys)
NM_001378452.1(ITPR1):c.7478A>G (p.Glu2493Gly) rs985441885
NM_001378452.1(ITPR1):c.7482T>C (p.Ser2494=)
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu) rs2125159710
NM_001378452.1(ITPR1):c.7492G>A (p.Glu2498Lys)
NM_001378452.1(ITPR1):c.7500G>C (p.Leu2500=)
NM_001378452.1(ITPR1):c.7507G>A (p.Asp2503Asn)
NM_001378452.1(ITPR1):c.7513T>C (p.Cys2505Arg)
NM_001378452.1(ITPR1):c.7515T>G (p.Cys2505Trp)
NM_001378452.1(ITPR1):c.7523A>C (p.Glu2508Ala)
NM_001378452.1(ITPR1):c.7523A>G (p.Glu2508Gly)
NM_001378452.1(ITPR1):c.7529G>C (p.Gly2510Ala)
NM_001378452.1(ITPR1):c.7531G>A (p.Glu2511Lys)
NM_001378452.1(ITPR1):c.7536C>A (p.Asn2512Lys)
NM_001378452.1(ITPR1):c.7543T>G (p.Ser2515Ala)
NM_001378452.1(ITPR1):c.7544C>T (p.Ser2515Phe)
NM_001378452.1(ITPR1):c.7555A>G (p.Arg2519Gly)
NM_001378452.1(ITPR1):c.7561+15C>A
NM_001378452.1(ITPR1):c.7597G>A (p.Glu2533Lys)
NM_001378452.1(ITPR1):c.762C>T (p.Asp254=)
NM_001378452.1(ITPR1):c.778C>A (p.Gln260Lys)
NM_001378452.1(ITPR1):c.7867+91C>G rs6442911
NM_001378452.1(ITPR1):c.7868-13G>A
NM_001378452.1(ITPR1):c.7868-18T>G
NM_001378452.1(ITPR1):c.7868-20G>A
NM_001378452.1(ITPR1):c.7899del (p.Val2634fs)
NM_001378452.1(ITPR1):c.7932C>T (p.His2644=)
NM_001378452.1(ITPR1):c.7953C>T (p.Cys2651=) rs774135923
NM_001378452.1(ITPR1):c.7960G>A (p.Val2654Ile)
NM_001378452.1(ITPR1):c.7968G>T (p.Val2656=)
NM_001378452.1(ITPR1):c.7980C>T (p.Asp2660=)
NM_001378452.1(ITPR1):c.7989A>G (p.Glu2663=)
NM_001378452.1(ITPR1):c.798C>G (p.Thr266=)
NM_001378452.1(ITPR1):c.7995T>C (p.Thr2665=)
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.801G>C (p.Thr267=)
NM_001378452.1(ITPR1):c.8028+17C>G
NM_001378452.1(ITPR1):c.8028+20G>A
NM_001378452.1(ITPR1):c.8028+6T>A
NM_001378452.1(ITPR1):c.8028+7G>A
NM_001378452.1(ITPR1):c.8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-15dup rs201029025
NM_001378452.1(ITPR1):c.8029-16_8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-19T>C
NM_001378452.1(ITPR1):c.8029-24_8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-25_8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-26_8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-4C>T rs1360786935
NM_001378452.1(ITPR1):c.8029-8G>C
NM_001378452.1(ITPR1):c.8029G>C (p.Glu2677Gln) rs2106544113
NM_001378452.1(ITPR1):c.8036A>G (p.Asn2679Ser)
NM_001378452.1(ITPR1):c.8036A>T (p.Asn2679Ile)
NM_001378452.1(ITPR1):c.804C>T (p.Gly268=)
NM_001378452.1(ITPR1):c.8055G>C (p.Arg2685Ser)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.806G>T (p.Arg269Leu) rs760588490
NM_001378452.1(ITPR1):c.8070A>G (p.Ser2690=) rs764602780
NM_001378452.1(ITPR1):c.8074G>A (p.Val2692Ile)
NM_001378452.1(ITPR1):c.8074G>C (p.Val2692Leu)
NM_001378452.1(ITPR1):c.8078G>A (p.Ser2693Asn)
NM_001378452.1(ITPR1):c.807G>A (p.Arg269=)
NM_001378452.1(ITPR1):c.8082T>C (p.Ser2694=)
NM_001378452.1(ITPR1):c.8106G>A (p.Glu2702=)
NM_001378452.1(ITPR1):c.8121G>A (p.Gln2707=)
NM_001378452.1(ITPR1):c.8141T>C (p.Met2714Thr)
NM_001378452.1(ITPR1):c.8145A>C (p.Lys2715Asn)
NM_001378452.1(ITPR1):c.8153C>G (p.Thr2718Arg)
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_001378452.1(ITPR1):c.8190+16C>G
NM_001378452.1(ITPR1):c.8190+17C>T
NM_001378452.1(ITPR1):c.8190+220T>C rs10865951
NM_001378452.1(ITPR1):c.8191-10_8191-7dup
NM_001378452.1(ITPR1):c.8191-14T>G
NM_001378452.1(ITPR1):c.8191-20G>A
NM_001378452.1(ITPR1):c.8206A>G (p.Lys2736Glu)
NM_001378452.1(ITPR1):c.8211G>T (p.Gln2737His)
NM_001378452.1(ITPR1):c.8222T>C (p.Ile2741Thr)
NM_001378452.1(ITPR1):c.8236C>T (p.His2746Tyr)
NM_001378452.1(ITPR1):c.8239C>T (p.Pro2747Ser)
NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)
NM_001378452.1(ITPR1):c.8247_8251del (p.His2749fs)
NM_001378452.1(ITPR1):c.8263C>A (p.Gln2755Lys)
NM_001378452.1(ITPR1):c.8269C>A (p.Pro2757Thr) rs1314021980
NM_001378452.1(ITPR1):c.8269C>G (p.Pro2757Ala)
NM_001378452.1(ITPR1):c.826A>C (p.Thr276Pro)
NM_001378452.1(ITPR1):c.8272G>A (p.Ala2758Thr)
NM_001378452.1(ITPR1):c.8274A>G (p.Ala2758=)
NM_001378452.1(ITPR1):c.8276A>G (p.Ter2759=)
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629
NM_001378452.1(ITPR1):c.831T>C (p.Ser277=)
NM_001378452.1(ITPR1):c.839C>T (p.Ala280Val)
NM_001378452.1(ITPR1):c.855+13T>C
NM_001378452.1(ITPR1):c.855+59CT[8] rs5846330
NM_001378452.1(ITPR1):c.855+6G>A
NM_001378452.1(ITPR1):c.855+7G>T rs2125159889
NM_001378452.1(ITPR1):c.856-254C>A rs3796336
NM_001378452.1(ITPR1):c.864G>T (p.Gln288His)
NM_001378452.1(ITPR1):c.877C>T (p.Arg293Trp)
NM_001378452.1(ITPR1):c.878G>A (p.Arg293Gln)
NM_001378452.1(ITPR1):c.87C>T (p.Thr29=)
NM_001378452.1(ITPR1):c.883G>A (p.Gly295Arg) rs779584031
NM_001378452.1(ITPR1):c.887C>A (p.Ala296Glu)
NM_001378452.1(ITPR1):c.887C>G (p.Ala296Gly) rs746760261
NM_001378452.1(ITPR1):c.893A>T (p.Tyr298Phe)
NM_001378452.1(ITPR1):c.902G>C (p.Ser301Thr)
NM_001378452.1(ITPR1):c.906T>C (p.Leu302=)
NM_001378452.1(ITPR1):c.911G>A (p.Arg304His)
NM_001378452.1(ITPR1):c.92+29C>G rs73807272
NM_001378452.1(ITPR1):c.93-18T>C
NM_001378452.1(ITPR1):c.933G>A (p.Gly311=)
NM_001378452.1(ITPR1):c.93C>T (p.Gly31=)
NM_001378452.1(ITPR1):c.951+108A>C rs6442896
NM_001378452.1(ITPR1):c.951+109G>A rs56896093
NM_001378452.1(ITPR1):c.951+11G>A
NM_001378452.1(ITPR1):c.951+15C>G
NM_001378452.1(ITPR1):c.951+20G>A
NM_001378452.1(ITPR1):c.951+35G>C rs6442895
NM_001378452.1(ITPR1):c.951+5G>A rs2125171533
NM_001378452.1(ITPR1):c.951+6_951+8del rs2093612036
NM_001378452.1(ITPR1):c.951+75G>A rs28562557
NM_001378452.1(ITPR1):c.951+9C>A rs908832824
NM_001378452.1(ITPR1):c.996+4_996+7del
NM_001378452.1(ITPR1):c.997-15A>G
NM_001378452.1(ITPR1):c.997-238_997-237del rs371882320
NM_002222.6(ITPR1):c.*1531G>A rs9817206
NM_002222.6(ITPR1):c.*1531G>T rs9817206

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