NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)
|
rs6442905
|
0.96699
|
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.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30736
|
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
|
rs2306877
|
0.26698
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_001378452.1(ITPR1):c.1151+5C>G
|
rs2306868
|
0.13045
|
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.1412+11C>T
|
rs7632000
|
0.04752
|
NM_002222.6(ITPR1):c.*1385A>G
|
rs9875113
|
0.04159
|
NM_001378452.1(ITPR1):c.1412+13G>A
|
rs11920643
|
0.04035
|
NM_001378452.1(ITPR1):c.-81A>G
|
rs13319720
|
0.03249
|
NM_001378452.1(ITPR1):c.*1156A>C
|
rs73099961
|
0.02738
|
NM_001378452.1(ITPR1):c.*643A>T
|
rs41305987
|
0.02460
|
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.6696A>G (p.Lys2232=)
|
rs34491089
|
0.02052
|
NM_001378452.1(ITPR1):c.*1170C>A
|
rs202059633
|
0.02047
|
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.*1185C>A
|
rs867347513
|
0.01135
|
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)
|
rs61741506
|
0.01135
|
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)
|
rs35789999
|
0.01046
|
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.1554+17G>A
|
rs80123990
|
0.01028
|
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.1251+10G>A
|
rs75936691
|
0.00811
|
NM_001378452.1(ITPR1):c.3327+4G>A
|
rs2306878
|
0.00785
|
NM_001378452.1(ITPR1):c.2204+13C>T
|
rs141519515
|
0.00759
|
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=)
|
rs35047189
|
0.00575
|
NM_001378452.1(ITPR1):c.6510+7T>C
|
rs115430385
|
0.00496
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
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.6117G>A (p.Ala2039=)
|
rs139528715
|
0.00306
|
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)
|
rs35946460
|
0.00289
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_001378452.1(ITPR1):c.*979A>T
|
rs147782346
|
0.00226
|
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.930G>A (p.Thr310=)
|
rs28565126
|
0.00201
|
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)
|
rs79720149
|
0.00191
|
NM_001378452.1(ITPR1):c.*1196T>C
|
rs565045968
|
0.00178
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
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.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.*1198C>T
|
rs367636150
|
0.00102
|
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.5466C>T (p.Asn1822=)
|
rs113368815
|
0.00078
|
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=)
|
rs140402012
|
0.00077
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=)
|
rs61757106
|
0.00066
|
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=)
|
rs199960483
|
0.00063
|
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=)
|
rs200426774
|
0.00063
|
NM_001378452.1(ITPR1):c.*121G>C
|
rs146903558
|
0.00055
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)
|
rs112944532
|
0.00048
|
NM_001378452.1(ITPR1):c.*942G>T
|
rs41308218
|
0.00044
|
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)
|
rs201519806
|
0.00044
|
NM_002222.6(ITPR1):c.*1533G>A
|
rs377290142
|
0.00044
|
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_002222.6(ITPR1):c.*1347G>T
|
rs547675218
|
0.00036
|
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.7986C>T (p.Thr2662=)
|
rs368405302
|
0.00029
|
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=)
|
rs201311531
|
0.00027
|
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)
|
rs367814655
|
0.00025
|
NM_001378452.1(ITPR1):c.*1008A>G
|
rs141084091
|
0.00022
|
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_002222.6(ITPR1):c.*1611G>A
|
rs565800630
|
0.00021
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
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.57G>A (p.Ala19=)
|
rs200534989
|
0.00016
|
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.6180+11T>A
|
rs772860677
|
0.00013
|
NM_001378452.1(ITPR1):c.1886+14G>A
|
rs370584403
|
0.00011
|
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.*580T>G
|
rs1266500433
|
0.00009
|
NM_001378452.1(ITPR1):c.997-6C>T
|
rs139421901
|
0.00008
|
NM_001378452.1(ITPR1):c.*243G>A
|
rs963189027
|
0.00007
|
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser)
|
rs369108656
|
0.00007
|
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=)
|
rs373515668
|
0.00006
|
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr)
|
rs372881053
|
0.00006
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
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.2300G>A (p.Arg767His)
|
rs760141315
|
0.00004
|
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=)
|
rs745351516
|
0.00004
|
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)
|
rs768179678
|
0.00004
|
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=)
|
rs371661663
|
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.4435C>T (p.His1479Tyr)
|
rs943946433
|
0.00003
|
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=)
|
rs886058616
|
0.00003
|
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn)
|
rs773864227
|
0.00003
|
NM_001378452.1(ITPR1):c.625-14A>T
|
rs368114873
|
0.00003
|
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.3251C>T (p.Pro1084Leu)
|
rs1467772045
|
0.00002
|
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala)
|
rs773251870
|
0.00002
|
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val)
|
rs773701050
|
0.00002
|
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)
|
rs749048534
|
0.00002
|
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=)
|
rs886058618
|
0.00002
|
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=)
|
rs765524918
|
0.00002
|
NM_001378452.1(ITPR1):c.5746A>G (p.Ile1916Val)
|
rs1479960762
|
0.00002
|
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=)
|
rs748401794
|
0.00002
|
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met)
|
rs767779223
|
0.00002
|
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val)
|
rs201934670
|
0.00002
|
NM_002222.6(ITPR1):c.*1311G>A
|
rs772889585
|
0.00002
|
NM_001378452.1(ITPR1):c.*1061T>G
|
rs886058652
|
0.00001
|
NM_001378452.1(ITPR1):c.*740T>C
|
rs886058650
|
0.00001
|
NM_001378452.1(ITPR1):c.*816C>T
|
rs775011992
|
0.00001
|
NM_001378452.1(ITPR1):c.-342C>T
|
rs886058522
|
0.00001
|
NM_001378452.1(ITPR1):c.-63C>T
|
rs889404498
|
0.00001
|
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=)
|
rs760762106
|
0.00001
|
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=)
|
rs778521012
|
0.00001
|
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)
|
rs2093873570
|
0.00001
|
NM_001378452.1(ITPR1):c.2006+13C>A
|
rs1181863539
|
0.00001
|
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=)
|
rs779948053
|
0.00001
|
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu)
|
rs1443276640
|
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.2929G>A (p.Val977Ile)
|
rs370220353
|
0.00001
|
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)
|
rs1574832115
|
0.00001
|
NM_001378452.1(ITPR1):c.3162-9C>T
|
rs1159582623
|
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.3228C>T (p.His1076=)
|
rs766131451
|
0.00001
|
NM_001378452.1(ITPR1):c.3327+10G>T
|
rs757492529
|
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.3648G>A (p.Arg1216=)
|
rs540908870
|
0.00001
|
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=)
|
rs886058578
|
0.00001
|
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=)
|
rs2094755597
|
0.00001
|
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=)
|
rs1396361560
|
0.00001
|
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg)
|
rs886058619
|
0.00001
|
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=)
|
rs754434409
|
0.00001
|
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=)
|
rs886058580
|
0.00001
|
NM_002222.6(ITPR1):c.*1481delG
|
rs886058656
|
0.00001
|
NM_001378452.1(ITPR1):c.*1076TTCTT[1]
|
rs886058653
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1]
|
rs1553771554
|
|
NM_001378452.1(ITPR1):c.*1183_*1184dup
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1184del
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1266G>A
|
rs886058655
|
|
NM_001378452.1(ITPR1):c.*13A>T
|
rs886058644
|
|
NM_001378452.1(ITPR1):c.*312G>A
|
rs886058646
|
|
NM_001378452.1(ITPR1):c.*356TG[1]
|
rs113825412
|
|
NM_001378452.1(ITPR1):c.*472T>G
|
rs2051804981
|
|
NM_001378452.1(ITPR1):c.*539_*540dup
|
rs886058648
|
|
NM_001378452.1(ITPR1):c.*549G>T
|
rs781519977
|
|
NM_001378452.1(ITPR1):c.*592T>G
|
rs2051813316
|
|
NM_001378452.1(ITPR1):c.*668T>C
|
rs886058649
|
|
NM_001378452.1(ITPR1):c.*814_*817dup
|
rs148070806
|
|
NM_001378452.1(ITPR1):c.*879T>C
|
rs1428879075
|
|
NM_001378452.1(ITPR1):c.*970C>A
|
rs2051846001
|
|
NM_001378452.1(ITPR1):c.-2A>G
|
rs369723935
|
|
NM_001378452.1(ITPR1):c.-315C>T
|
rs572878578
|
|
NM_001378452.1(ITPR1):c.-341A>T
|
rs565843811
|
|
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys)
|
rs779003637
|
|
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)
|
rs2124927471
|
|
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.1127G>C (p.Arg376Pro)
|
rs1260045423
|
|
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln)
|
rs2093820776
|
|
NM_001378452.1(ITPR1):c.1252-10T>A
|
rs2125191741
|
|
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile)
|
rs2093848251
|
|
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn)
|
rs2093849179
|
|
NM_001378452.1(ITPR1):c.1412+6C>T
|
rs2093850197
|
|
NM_001378452.1(ITPR1):c.1413-15G>A
|
rs148675260
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)
|
rs2093873717
|
|
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)
|
rs2125193560
|
|
NM_001378452.1(ITPR1):c.1606C>T (p.Leu536Phe)
|
rs1553681680
|
|
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=)
|
rs886058612
|
|
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly)
|
rs2093921786
|
|
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)
|
rs1322796318
|
|
NM_001378452.1(ITPR1):c.1760A>T (p.Tyr587Phe)
|
rs757318302
|
|
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)
|
rs397514536
|
|
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
|
|
|
NM_001378452.1(ITPR1):c.2204+14G>A
|
rs529693973
|
|
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys)
|
rs961418831
|
|
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=)
|
rs553559062
|
|
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val)
|
rs111670385
|
|
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser)
|
rs1559671950
|
|
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=)
|
rs886058614
|
|
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=)
|
rs541386070
|
|
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp)
|
rs2093283649
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
NM_001378452.1(ITPR1):c.3617A>G (p.Lys1206Arg)
|
|
|
NM_001378452.1(ITPR1):c.366+15C>T
|
rs145989158
|
|
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.3873C>T (p.Phe1291=)
|
rs567943387
|
|
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser)
|
rs1159285250
|
|
NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val)
|
rs955458642
|
|
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=)
|
rs2094513887
|
|
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=)
|
rs555819278
|
|
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe)
|
rs762136714
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001378452.1(ITPR1):c.4407+44GT[18]
|
rs35795762
|
|
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser)
|
rs886058615
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)
|
rs2125272771
|
|
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His)
|
rs561526280
|
|
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=)
|
rs2082182114
|
|
NM_001378452.1(ITPR1):c.4992-7del
|
rs546612625
|
|
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=)
|
rs2041390618
|
|
NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp)
|
rs1553706329
|
|
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter)
|
rs886058579
|
|
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln)
|
rs2291864
|
|
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=)
|
rs774018521
|
|
NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)
|
rs1114167316
|
|
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=)
|
rs776891199
|
|
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile)
|
rs1002376493
|
|
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg)
|
rs2125373123
|
|
NM_001378452.1(ITPR1):c.5725+15G>A
|
rs2045841537
|
|
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=)
|
rs1157485528
|
|
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)
|
rs1360324926
|
|
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val)
|
rs2046693194
|
|
NM_001378452.1(ITPR1):c.6525C>G (p.Asn2175Lys)
|
rs2046991703
|
|
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn)
|
rs886058620
|
|
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
|
|
|
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)
|
|
|
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)
|
rs2125159664
|
|
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)
|
rs1553756062
|
|
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)
|
rs1553666546
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)
|
rs2125159710
|
|
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)
|
rs2125159718
|
|
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=)
|
rs775463557
|
|
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.8029-4C>A
|
rs1360786935
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=)
|
rs2050964614
|
|
NM_001378452.1(ITPR1):c.8190+13_8190+14del
|
rs552585900
|
|
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile)
|
rs863224882
|
|
NM_001378452.1(ITPR1):c.951+35G>C
|
rs6442895
|
|
NM_002222.6(ITPR1):c.*1366C>A
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1366C>T
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1531G>A
|
rs9817206
|
|
NM_002222.6(ITPR1):c.*1531G>T
|
rs9817206
|
|