NM_001378452.1(ITPR1):c.*1170C>A
|
rs202059633
|
0.02047
|
NM_001378452.1(ITPR1):c.*1185C>A
|
rs867347513
|
0.01135
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_001378452.1(ITPR1):c.5163C>A (p.Asn1721Lys)
|
rs201937660
|
0.00060
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
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_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.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)
|
rs373973399
|
0.00032
|
NM_001378452.1(ITPR1):c.*279A>G
|
rs886058645
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
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.532A>G (p.Ile178Val)
|
rs188477537
|
0.00023
|
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg)
|
rs373359869
|
0.00023
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001378452.1(ITPR1):c.4843-7G>A
|
rs184969640
|
0.00016
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
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.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.8277A>G (p.Ter2759=)
|
rs376816678
|
0.00009
|
NM_001378452.1(ITPR1):c.4246G>A (p.Val1416Ile)
|
rs373436949
|
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.2188G>A (p.Val730Ile)
|
rs370701686
|
0.00006
|
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.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.7474G>A (p.Gly2492Ser)
|
rs187571979
|
0.00006
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
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.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.1554+3C>T
|
rs781141738
|
0.00004
|
NM_001378452.1(ITPR1):c.1554+6T>G
|
rs371214686
|
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.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.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.6440G>C (p.Gly2147Ala)
|
rs371303646
|
0.00004
|
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser)
|
rs199890939
|
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.929C>T (p.Thr310Met)
|
rs201693219
|
0.00004
|
NM_001378452.1(ITPR1):c.1016C>A (p.Ala339Asp)
|
rs755837192
|
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.4233G>A (p.Pro1411=)
|
rs373572745
|
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.5228C>T (p.Ala1743Val)
|
rs747201343
|
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.5875G>A (p.Asp1959Asn)
|
rs773864227
|
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.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.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.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.5332C>A (p.Pro1778Thr)
|
rs775018692
|
0.00002
|
NM_001378452.1(ITPR1):c.5336G>T (p.Gly1779Val)
|
rs749571656
|
0.00002
|
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=)
|
rs765524918
|
0.00002
|
NM_001378452.1(ITPR1):c.5737A>C (p.Thr1913Pro)
|
rs71313897
|
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.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.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.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.1240G>A (p.Val414Met)
|
rs1462970629
|
0.00001
|
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=)
|
rs760762106
|
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.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.2006+13C>A
|
rs1181863539
|
0.00001
|
NM_001378452.1(ITPR1):c.2125C>T (p.Arg709Cys)
|
rs1169304800
|
0.00001
|
NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val)
|
rs779996062
|
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.2780-8T>C
|
rs558804336
|
0.00001
|
NM_001378452.1(ITPR1):c.2809G>A (p.Val937Met)
|
rs751172849
|
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.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.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.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.3830T>A (p.Ile1277Asn)
|
rs773030719
|
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.4114C>T (p.Arg1372Trp)
|
rs777018717
|
0.00001
|
NM_001378452.1(ITPR1):c.4250G>A (p.Arg1417His)
|
rs766019080
|
0.00001
|
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr)
|
rs1392354334
|
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.4658-3C>T
|
rs779986666
|
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.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.5413T>A (p.Cys1805Ser)
|
rs1377176027
|
0.00001
|
NM_001378452.1(ITPR1):c.5689G>A (p.Asp1897Asn)
|
rs370615766
|
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.6135G>A (p.Leu2045=)
|
rs754434409
|
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.7484_7516del (p.Leu2495_Arg2506delinsTrp)
|
rs1264194781
|
0.00001
|
NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln)
|
rs760588490
|
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_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.*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.*7G>T
|
|
|
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.1002C>A (p.Asp334Glu)
|
|
|
NM_001378452.1(ITPR1):c.1015G>A (p.Ala339Thr)
|
|
|
NM_001378452.1(ITPR1):c.101A>G (p.Asp34Gly)
|
|
|
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.1043A>G (p.Gln348Arg)
|
|
|
NM_001378452.1(ITPR1):c.1052T>C (p.Met351Thr)
|
|
|
NM_001378452.1(ITPR1):c.1066G>A (p.Val356Ile)
|
|
|
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.1084A>G (p.Asn362Asp)
|
rs2093756579
|
|
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.1093TCC[1] (p.Ser366del)
|
|
|
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro)
|
rs1260045423
|
|
NM_001378452.1(ITPR1):c.1127G>T (p.Arg376Leu)
|
|
|
NM_001378452.1(ITPR1):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001378452.1(ITPR1):c.1152G>A (p.Arg384=)
|
|
|
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln)
|
rs2093820776
|
|
NM_001378452.1(ITPR1):c.1186A>G (p.Asn396Asp)
|
|
|
NM_001378452.1(ITPR1):c.1213C>G (p.Pro405Ala)
|
|
|
NM_001378452.1(ITPR1):c.1213C>T (p.Pro405Ser)
|
|
|
NM_001378452.1(ITPR1):c.1240G>T (p.Val414Leu)
|
|
|
NM_001378452.1(ITPR1):c.1252-10T>A
|
rs2125191741
|
|
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile)
|
rs2093848251
|
|
NM_001378452.1(ITPR1):c.1297G>T (p.Val433Phe)
|
rs2093848251
|
|
NM_001378452.1(ITPR1):c.133G>A (p.Asp45Asn)
|
|
|
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn)
|
rs2093849179
|
|
NM_001378452.1(ITPR1):c.1369G>T (p.Ala457Ser)
|
|
|
NM_001378452.1(ITPR1):c.136C>G (p.Leu46Val)
|
rs1464038696
|
|
NM_001378452.1(ITPR1):c.1412+11_1412+12delinsTT
|
|
|
NM_001378452.1(ITPR1):c.1412+6C>T
|
rs2093850197
|
|
NM_001378452.1(ITPR1):c.1413-15G>A
|
rs148675260
|
|
NM_001378452.1(ITPR1):c.1417G>A (p.Val473Ile)
|
|
|
NM_001378452.1(ITPR1):c.141C>G (p.Asn47Lys)
|
|
|
NM_001378452.1(ITPR1):c.1425G>T (p.Lys475Asn)
|
|
|
NM_001378452.1(ITPR1):c.1460G>A (p.Gly487Glu)
|
|
|
NM_001378452.1(ITPR1):c.1499C>G (p.Ser500Cys)
|
|
|
NM_001378452.1(ITPR1):c.1508A>G (p.Asn503Ser)
|
|
|
NM_001378452.1(ITPR1):c.1512A>T (p.Arg504Ser)
|
|
|
NM_001378452.1(ITPR1):c.1517G>A (p.Arg506Gln)
|
|
|
NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)
|
|
|
NM_001378452.1(ITPR1):c.1550A>G (p.Lys517Arg)
|
|
|
NM_001378452.1(ITPR1):c.1589G>A (p.Cys530Tyr)
|
|
|
NM_001378452.1(ITPR1):c.1592G>C (p.Gly531Ala)
|
|
|
NM_001378452.1(ITPR1):c.1600C>A (p.Pro534Thr)
|
rs2093919890
|
|
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.1639G>A (p.Ala547Thr)
|
rs746128987
|
|
NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)
|
|
|
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.1697A>G (p.Asp566Gly)
|
rs2093921786
|
|
NM_001378452.1(ITPR1):c.1711C>A (p.Gln571Lys)
|
|
|
NM_001378452.1(ITPR1):c.1754T>C (p.Ile585Thr)
|
rs2125201780
|
|
NM_001378452.1(ITPR1):c.178C>G (p.Leu60Val)
|
|
|
NM_001378452.1(ITPR1):c.1808G>A (p.Arg603Gln)
|
|
|
NM_001378452.1(ITPR1):c.1813C>A (p.Leu605Ile)
|
|
|
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
|
|
|
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.1876A>G (p.Arg626Gly)
|
rs2125201991
|
|
NM_001378452.1(ITPR1):c.1883C>G (p.Pro628Arg)
|
|
|
NM_001378452.1(ITPR1):c.1886+7C>G
|
|
|
NM_001378452.1(ITPR1):c.1887-3T>C
|
|
|
NM_001378452.1(ITPR1):c.188T>C (p.Met63Thr)
|
rs370953766
|
|
NM_001378452.1(ITPR1):c.1906G>A (p.Asp636Asn)
|
rs2094030403
|
|
NM_001378452.1(ITPR1):c.1915G>A (p.Val639Ile)
|
|
|
NM_001378452.1(ITPR1):c.1928A>G (p.Lys643Arg)
|
rs2094030944
|
|
NM_001378452.1(ITPR1):c.1957T>C (p.Cys653Arg)
|
|
|
NM_001378452.1(ITPR1):c.1963G>C (p.Ala655Pro)
|
|
|
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.199T>G (p.Ser67Ala)
|
|
|
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.2038G>C (p.Val680Leu)
|
|
|
NM_001378452.1(ITPR1):c.2053G>A (p.Glu685Lys)
|
|
|
NM_001378452.1(ITPR1):c.2054A>G (p.Glu685Gly)
|
rs756830183
|
|
NM_001378452.1(ITPR1):c.2096T>A (p.Leu699Gln)
|
rs2125208733
|
|
NM_001378452.1(ITPR1):c.20G>A (p.Ser7Asn)
|
|
|
NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn)
|
rs373694009
|
|
NM_001378452.1(ITPR1):c.2112C>G (p.Ser704Arg)
|
|
|
NM_001378452.1(ITPR1):c.2129G>A (p.Ser710Asn)
|
|
|
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr)
|
rs797045632
|
|
NM_001378452.1(ITPR1):c.2183G>A (p.Arg728Gln)
|
|
|
NM_001378452.1(ITPR1):c.2204+14G>A
|
rs529693973
|
|
NM_001378452.1(ITPR1):c.2260A>C (p.Asn754His)
|
|
|
NM_001378452.1(ITPR1):c.2261A>G (p.Asn754Ser)
|
|
|
NM_001378452.1(ITPR1):c.226G>A (p.Ala76Thr)
|
|
|
NM_001378452.1(ITPR1):c.2296C>A (p.Leu766Ile)
|
|
|
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly)
|
rs997975841
|
|
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys)
|
rs961418831
|
|
NM_001378452.1(ITPR1):c.2351G>A (p.Arg784His)
|
|
|
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His)
|
rs2125214071
|
|
NM_001378452.1(ITPR1):c.2399C>A (p.Thr800Asn)
|
|
|
NM_001378452.1(ITPR1):c.2399C>T (p.Thr800Ile)
|
rs768078525
|
|
NM_001378452.1(ITPR1):c.2447C>T (p.Ala816Val)
|
|
|
NM_001378452.1(ITPR1):c.2452G>A (p.Asp818Asn)
|
|
|
NM_001378452.1(ITPR1):c.2455G>T (p.Asp819Tyr)
|
rs200199463
|
|
NM_001378452.1(ITPR1):c.2468G>C (p.Ser823Thr)
|
|
|
NM_001378452.1(ITPR1):c.2473G>A (p.Ala825Thr)
|
rs2094142451
|
|
NM_001378452.1(ITPR1):c.2477C>T (p.Ser826Phe)
|
rs1553686424
|
|
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.2513T>C (p.Met838Thr)
|
|
|
NM_001378452.1(ITPR1):c.2516A>G (p.Glu839Gly)
|
rs2094143122
|
|
NM_001378452.1(ITPR1):c.2531A>G (p.Tyr844Cys)
|
|
|
NM_001378452.1(ITPR1):c.2543T>C (p.Val848Ala)
|
|
|
NM_001378452.1(ITPR1):c.2591C>T (p.Thr864Met)
|
rs747510246
|
|
NM_001378452.1(ITPR1):c.2602G>T (p.Val868Leu)
|
|
|
NM_001378452.1(ITPR1):c.2659C>G (p.Arg887Gly)
|
|
|
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val)
|
rs750473506
|
|
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val)
|
rs111670385
|
|
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.2753G>A (p.Gly918Asp)
|
rs775249713
|
|
NM_001378452.1(ITPR1):c.2773C>G (p.Leu925Val)
|
rs761743436
|
|
NM_001378452.1(ITPR1):c.279+4C>G
|
|
|
NM_001378452.1(ITPR1):c.279+4C>T
|
|
|
NM_001378452.1(ITPR1):c.2792T>G (p.Met931Arg)
|
|
|
NM_001378452.1(ITPR1):c.279C>A (p.His93Gln)
|
|
|
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser)
|
rs1559671950
|
|
NM_001378452.1(ITPR1):c.2891A>G (p.Asn964Ser)
|
|
|
NM_001378452.1(ITPR1):c.2902G>A (p.Ala968Thr)
|
|
|
NM_001378452.1(ITPR1):c.2903C>T (p.Ala968Val)
|
|
|
NM_001378452.1(ITPR1):c.2923A>G (p.Ile975Val)
|
|
|
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=)
|
rs886058614
|
|
NM_001378452.1(ITPR1):c.2954T>C (p.Ile985Thr)
|
|
|
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.3033T>G (p.Phe1011Leu)
|
|
|
NM_001378452.1(ITPR1):c.303G>C (p.Lys101Asn)
|
|
|
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=)
|
rs541386070
|
|
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.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.3103C>T (p.Pro1035Ser)
|
|
|
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.3161+3A>G
|
|
|
NM_001378452.1(ITPR1):c.3161+7A>T
|
|
|
NM_001378452.1(ITPR1):c.3163G>A (p.Glu1055Lys)
|
rs2125232528
|
|
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser)
|
|
|
NM_001378452.1(ITPR1):c.3181G>A (p.Asp1061Asn)
|
|
|
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp)
|
rs2093283649
|
|
NM_001378452.1(ITPR1):c.326A>C (p.Lys109Thr)
|
|
|
NM_001378452.1(ITPR1):c.3272A>G (p.Gln1091Arg)
|
rs2125232682
|
|
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.3318C>G (p.Ala1106=)
|
rs2094337722
|
|
NM_001378452.1(ITPR1):c.3327+4G>T
|
|
|
NM_001378452.1(ITPR1):c.3362A>C (p.Asn1121Thr)
|
|
|
NM_001378452.1(ITPR1):c.3376A>C (p.Lys1126Gln)
|
|
|
NM_001378452.1(ITPR1):c.3377A>G (p.Lys1126Arg)
|
|
|
NM_001378452.1(ITPR1):c.340G>A (p.Val114Ile)
|
|
|
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.3484C>T (p.His1162Tyr)
|
rs751978872
|
|
NM_001378452.1(ITPR1):c.3485A>G (p.His1162Arg)
|
rs1222841771
|
|
NM_001378452.1(ITPR1):c.3492A>C (p.Lys1164Asn)
|
|
|
NM_001378452.1(ITPR1):c.3497A>C (p.Glu1166Ala)
|
|
|
NM_001378452.1(ITPR1):c.3513G>T (p.Lys1171Asn)
|
|
|
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.3564+3A>G
|
|
|
NM_001378452.1(ITPR1):c.356A>G (p.Asn119Ser)
|
|
|
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.3613A>G (p.Arg1205Gly)
|
|
|
NM_001378452.1(ITPR1):c.361A>T (p.Ile121Phe)
|
rs532037891
|
|
NM_001378452.1(ITPR1):c.3631C>A (p.Gln1211Lys)
|
|
|
NM_001378452.1(ITPR1):c.3641T>G (p.Leu1214Arg)
|
rs2125235641
|
|
NM_001378452.1(ITPR1):c.3646C>T (p.Arg1216Trp)
|
|
|
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+4G>A
|
|
|
NM_001378452.1(ITPR1):c.366+6T>A
|
rs1559591437
|
|
NM_001378452.1(ITPR1):c.3665C>G (p.Ala1222Gly)
|
|
|
NM_001378452.1(ITPR1):c.367-20T>G
|
|
|
NM_001378452.1(ITPR1):c.3702+6C>T
|
rs542846100
|
|
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.3716A>G (p.Lys1239Arg)
|
|
|
NM_001378452.1(ITPR1):c.3727A>T (p.Ile1243Leu)
|
|
|
NM_001378452.1(ITPR1):c.3739G>T (p.Ala1247Ser)
|
|
|
NM_001378452.1(ITPR1):c.3740C>A (p.Ala1247Asp)
|
|
|
NM_001378452.1(ITPR1):c.3796C>T (p.His1266Tyr)
|
|
|
NM_001378452.1(ITPR1):c.3826G>T (p.Gly1276Trp)
|
|
|
NM_001378452.1(ITPR1):c.3849G>A (p.Met1283Ile)
|
|
|
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.3912C>A (p.His1304Gln)
|
|
|
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.3944A>G (p.Asn1315Ser)
|
rs1159285250
|
|
NM_001378452.1(ITPR1):c.3950A>C (p.Gln1317Pro)
|
|
|
NM_001378452.1(ITPR1):c.4017G>A (p.Met1339Ile)
|
|
|
NM_001378452.1(ITPR1):c.4057G>A (p.Val1353Met)
|
|
|
NM_001378452.1(ITPR1):c.4069G>A (p.Asp1357Asn)
|
|
|
NM_001378452.1(ITPR1):c.4083C>A (p.Phe1361Leu)
|
rs763239856
|
|
NM_001378452.1(ITPR1):c.4094T>A (p.Ile1365Asn)
|
|
|
NM_001378452.1(ITPR1):c.4106G>A (p.Arg1369Gln)
|
|
|
NM_001378452.1(ITPR1):c.4106G>C (p.Arg1369Pro)
|
|
|
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.4127A>T (p.Asp1376Val)
|
rs955458642
|
|
NM_001378452.1(ITPR1):c.4135A>G (p.Ser1379Gly)
|
rs2125249461
|
|
NM_001378452.1(ITPR1):c.4157A>T (p.His1386Leu)
|
rs1172066127
|
|
NM_001378452.1(ITPR1):c.4223C>T (p.Ser1408Phe)
|
|
|
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=)
|
rs2094513887
|
|
NM_001378452.1(ITPR1):c.4237G>C (p.Asp1413His)
|
|
|
NM_001378452.1(ITPR1):c.4243A>G (p.Ile1415Val)
|
|
|
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe)
|
rs762136714
|
|
NM_001378452.1(ITPR1):c.4249C>T (p.Arg1417Cys)
|
rs1168676216
|
|
NM_001378452.1(ITPR1):c.4252G>A (p.Val1418Met)
|
|
|
NM_001378452.1(ITPR1):c.4252G>T (p.Val1418Leu)
|
|
|
NM_001378452.1(ITPR1):c.4281+6C>T
|
|
|
NM_001378452.1(ITPR1):c.4351T>C (p.Tyr1451His)
|
|
|
NM_001378452.1(ITPR1):c.4377G>T (p.Leu1459Phe)
|
rs566552796
|
|
NM_001378452.1(ITPR1):c.4390C>G (p.Leu1464Val)
|
|
|
NM_001378452.1(ITPR1):c.4403G>T (p.Cys1468Phe)
|
|
|
NM_001378452.1(ITPR1):c.4403_4407+2del
|
|
|
NM_001378452.1(ITPR1):c.4408-3C>T
|
|
|
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.443G>A (p.Arg148Lys)
|
rs2093352735
|
|
NM_001378452.1(ITPR1):c.4445C>T (p.Ser1482Leu)
|
|
|
NM_001378452.1(ITPR1):c.4455G>C (p.Glu1485Asp)
|
rs753039414
|
|
NM_001378452.1(ITPR1):c.4466C>T (p.Thr1489Ile)
|
|
|
NM_001378452.1(ITPR1):c.4480A>G (p.Ser1494Gly)
|
|
|
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.4526C>G (p.Thr1509Arg)
|
rs370021605
|
|
NM_001378452.1(ITPR1):c.4526C>T (p.Thr1509Met)
|
|
|
NM_001378452.1(ITPR1):c.4538C>G (p.Thr1513Ser)
|
|
|
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.4663A>T (p.Ser1555Cys)
|
rs1290207637
|
|
NM_001378452.1(ITPR1):c.4666C>T (p.Arg1556Trp)
|
|
|
NM_001378452.1(ITPR1):c.4667G>A (p.Arg1556Gln)
|
|
|
NM_001378452.1(ITPR1):c.4669G>A (p.Ala1557Thr)
|
|
|
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser)
|
rs886058615
|
|
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.4696A>G (p.Ser1566Gly)
|
rs2125272782
|
|
NM_001378452.1(ITPR1):c.4710C>A (p.Asn1570Lys)
|
|
|
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.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.4829T>C (p.Ile1610Thr)
|
|
|
NM_001378452.1(ITPR1):c.4842+3A>C
|
|
|
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.4868G>A (p.Arg1623His)
|
rs561526280
|
|
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=)
|
rs2082182114
|
|
NM_001378452.1(ITPR1):c.4906G>A (p.Val1636Met)
|
|
|
NM_001378452.1(ITPR1):c.4912G>T (p.Val1638Phe)
|
rs2125280332
|
|
NM_001378452.1(ITPR1):c.4923A>C (p.Arg1641Ser)
|
|
|
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.5006C>A (p.Thr1669Lys)
|
rs2125283014
|
|
NM_001378452.1(ITPR1):c.5011C>G (p.Gln1671Glu)
|
|
|
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=)
|
rs2041390618
|
|
NM_001378452.1(ITPR1):c.5023G>A (p.Glu1675Lys)
|
|
|
NM_001378452.1(ITPR1):c.5053C>G (p.Leu1685Val)
|
|
|
NM_001378452.1(ITPR1):c.5087G>A (p.Arg1696Lys)
|
|
|
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter)
|
rs886058579
|
|
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.5222G>A (p.Gly1741Asp)
|
rs2125317888
|
|
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.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.5303T>G (p.Phe1768Cys)
|
|
|
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.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.5348G>A (p.Gly1783Glu)
|
|
|
NM_001378452.1(ITPR1):c.5348G>T (p.Gly1783Val)
|
|
|
NM_001378452.1(ITPR1):c.5353+5G>A
|
|
|
NM_001378452.1(ITPR1):c.5354-10A>G
|
|
|
NM_001378452.1(ITPR1):c.5354-8C>A
|
rs754119985
|
|
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.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.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.5425A>G (p.Lys1809Glu)
|
|
|
NM_001378452.1(ITPR1):c.5452G>A (p.Asp1818Asn)
|
|
|
NM_001378452.1(ITPR1):c.5466C>A (p.Asn1822Lys)
|
|
|
NM_001378452.1(ITPR1):c.5467G>A (p.Ala1823Thr)
|
|
|
NM_001378452.1(ITPR1):c.5473A>T (p.Ser1825Cys)
|
|
|
NM_001378452.1(ITPR1):c.5475_5480del (p.Ser1825_Asp1826del)
|
|
|
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=)
|
rs774018521
|
|
NM_001378452.1(ITPR1):c.5500C>T (p.Leu1834Phe)
|
|
|
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=)
|
rs776891199
|
|
NM_001378452.1(ITPR1):c.5560C>T (p.Arg1854Cys)
|
|
|
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.5595T>A (p.Phe1865Leu)
|
|
|
NM_001378452.1(ITPR1):c.55G>A (p.Ala19Thr)
|
|
|
NM_001378452.1(ITPR1):c.5610C>A (p.Asp1870Glu)
|
|
|
NM_001378452.1(ITPR1):c.5611C>T (p.Arg1871Trp)
|
|
|
NM_001378452.1(ITPR1):c.5621T>C (p.Val1874Ala)
|
rs143093165
|
|
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg)
|
rs2125373123
|
|
NM_001378452.1(ITPR1):c.5673A>G (p.Gly1891=)
|
rs1553735513
|
|
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.5700C>G (p.Asp1900Glu)
|
|
|
NM_001378452.1(ITPR1):c.5716C>T (p.Arg1906Trp)
|
|
|
NM_001378452.1(ITPR1):c.5717G>A (p.Arg1906Gln)
|
|
|
NM_001378452.1(ITPR1):c.5725+15G>A
|
rs2045841537
|
|
NM_001378452.1(ITPR1):c.5725+4A>T
|
|
|
NM_001378452.1(ITPR1):c.5725+5A>G
|
|
|
NM_001378452.1(ITPR1):c.5731G>A (p.Glu1911Lys)
|
|
|
NM_001378452.1(ITPR1):c.5735C>T (p.Pro1912Leu)
|
|
|
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.5825C>T (p.Ala1942Val)
|
|
|
NM_001378452.1(ITPR1):c.5834A>G (p.Asp1945Gly)
|
|
|
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.5858G>A (p.Gly1953Asp)
|
rs2125376483
|
|
NM_001378452.1(ITPR1):c.5859C>T (p.Gly1953=)
|
|
|
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.5881G>A (p.Ala1961Thr)
|
|
|
NM_001378452.1(ITPR1):c.5890G>A (p.Asp1964Asn)
|
|
|
NM_001378452.1(ITPR1):c.590G>A (p.Ser197Asn)
|
|
|
NM_001378452.1(ITPR1):c.5915C>A (p.Thr1972Asn)
|
|
|
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.5970A>T (p.Arg1990=)
|
rs1157485528
|
|
NM_001378452.1(ITPR1):c.5972A>G (p.Asp1991Gly)
|
rs781495978
|
|
NM_001378452.1(ITPR1):c.5980-6T>C
|
|
|
NM_001378452.1(ITPR1):c.5990G>A (p.Arg1997His)
|
|
|
NM_001378452.1(ITPR1):c.6006G>T (p.Lys2002Asn)
|
|
|
NM_001378452.1(ITPR1):c.610C>A (p.Pro204Thr)
|
|
|
NM_001378452.1(ITPR1):c.6112G>A (p.Val2038Ile)
|
|
|
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+6T>G
|
|
|
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)
|
rs1360324926
|
|
NM_001378452.1(ITPR1):c.6211A>G (p.Ile2071Val)
|
|
|
NM_001378452.1(ITPR1):c.6239A>G (p.Asn2080Ser)
|
|
|
NM_001378452.1(ITPR1):c.6274C>T (p.Leu2092Phe)
|
rs2125389919
|
|
NM_001378452.1(ITPR1):c.6292-5A>G
|
|
|
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
|
|
|
NM_001378452.1(ITPR1):c.6357G>C (p.Arg2119Ser)
|
|
|
NM_001378452.1(ITPR1):c.6365A>T (p.Tyr2122Phe)
|
|
|
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.6401A>G (p.Lys2134Arg)
|
|
|
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.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.6463G>A (p.Ala2155Thr)
|
|
|
NM_001378452.1(ITPR1):c.6464C>T (p.Ala2155Val)
|
rs2125397931
|
|
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.6538A>G (p.Ser2180Gly)
|
|
|
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn)
|
rs886058620
|
|
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.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.6639G>A (p.Met2213Ile)
|
rs2125405864
|
|
NM_001378452.1(ITPR1):c.6646A>G (p.Ile2216Val)
|
|
|
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
|
|
|
NM_001378452.1(ITPR1):c.6746A>G (p.Asn2249Ser)
|
|
|
NM_001378452.1(ITPR1):c.6771C>G (p.Asp2257Glu)
|
rs748551485
|
|
NM_001378452.1(ITPR1):c.6812A>G (p.Gln2271Arg)
|
rs1246508094
|
|
NM_001378452.1(ITPR1):c.6835C>T (p.Arg2279Cys)
|
|
|
NM_001378452.1(ITPR1):c.6841A>G (p.Met2281Val)
|
|
|
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)
|
|
|
NM_001378452.1(ITPR1):c.6858C>T (p.Ser2286=)
|
|
|
NM_001378452.1(ITPR1):c.6895G>A (p.Val2299Met)
|
rs2047817291
|
|
NM_001378452.1(ITPR1):c.6918G>C (p.Lys2306Asn)
|
|
|
NM_001378452.1(ITPR1):c.6926G>A (p.Arg2309Gln)
|
|
|
NM_001378452.1(ITPR1):c.692A>T (p.Asp231Val)
|
|
|
NM_001378452.1(ITPR1):c.6931+6C>T
|
|
|
NM_001378452.1(ITPR1):c.6933A>G (p.Gly2311=)
|
rs2125423186
|
|
NM_001378452.1(ITPR1):c.6935C>A (p.Thr2312Asn)
|
|
|
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.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.6994G>T (p.Val2332Phe)
|
|
|
NM_001378452.1(ITPR1):c.7000G>A (p.Ala2334Thr)
|
|
|
NM_001378452.1(ITPR1):c.7003C>T (p.Leu2335Phe)
|
|
|
NM_001378452.1(ITPR1):c.7013C>T (p.Pro2338Leu)
|
|
|
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.7042A>G (p.Thr2348Ala)
|
rs753499808
|
|
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.7082C>T (p.Thr2361Met)
|
|
|
NM_001378452.1(ITPR1):c.7108-3C>T
|
|
|
NM_001378452.1(ITPR1):c.7222G>C (p.Val2408Leu)
|
|
|
NM_001378452.1(ITPR1):c.7226T>A (p.Ile2409Asn)
|
|
|
NM_001378452.1(ITPR1):c.7297G>A (p.Glu2433Lys)
|
|
|
NM_001378452.1(ITPR1):c.731A>C (p.His244Pro)
|
rs1085308010
|
|
NM_001378452.1(ITPR1):c.7330C>T (p.Arg2444Cys)
|
rs112560414
|
|
NM_001378452.1(ITPR1):c.7331G>T (p.Arg2444Leu)
|
|
|
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)
|
rs1553666546
|
|
NM_001378452.1(ITPR1):c.7378G>A (p.Val2460Ile)
|
rs940526920
|
|
NM_001378452.1(ITPR1):c.7403A>T (p.Tyr2468Phe)
|
|
|
NM_001378452.1(ITPR1):c.7433A>C (p.Glu2478Ala)
|
|
|
NM_001378452.1(ITPR1):c.7438G>C (p.Asp2480His)
|
|
|
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.7475G>A (p.Gly2492Asp)
|
|
|
NM_001378452.1(ITPR1):c.7478A>G (p.Glu2493Gly)
|
rs985441885
|
|
NM_001378452.1(ITPR1):c.7492G>A (p.Glu2498Lys)
|
|
|
NM_001378452.1(ITPR1):c.7515T>G (p.Cys2505Trp)
|
|
|
NM_001378452.1(ITPR1):c.7522G>A (p.Glu2508Lys)
|
|
|
NM_001378452.1(ITPR1):c.7523A>G (p.Glu2508Gly)
|
|
|
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.763G>A (p.Glu255Lys)
|
|
|
NM_001378452.1(ITPR1):c.778C>A (p.Gln260Lys)
|
|
|
NM_001378452.1(ITPR1):c.7960G>A (p.Val2654Ile)
|
|
|
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=)
|
rs775463557
|
|
NM_001378452.1(ITPR1):c.799A>G (p.Thr267Ala)
|
rs1553666615
|
|
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)
|
rs797044955
|
|
NM_001378452.1(ITPR1):c.8028+6T>A
|
|
|
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.8055G>C (p.Arg2685Ser)
|
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378452.1(ITPR1):c.8074G>C (p.Val2692Leu)
|
|
|
NM_001378452.1(ITPR1):c.8078G>A (p.Ser2693Asn)
|
|
|
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.8187T>C (p.Asp2729=)
|
rs2050964614
|
|
NM_001378452.1(ITPR1):c.8191-14T>G
|
|
|
NM_001378452.1(ITPR1):c.8206A>G (p.Lys2736Glu)
|
|
|
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.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.829A>G (p.Ser277Gly)
|
rs1559603629
|
|
NM_001378452.1(ITPR1):c.833C>T (p.Ser278Leu)
|
|
|
NM_001378452.1(ITPR1):c.839C>T (p.Ala280Val)
|
|
|
NM_001378452.1(ITPR1):c.855+6G>A
|
|
|
NM_001378452.1(ITPR1):c.855+7G>T
|
rs2125159889
|
|
NM_001378452.1(ITPR1):c.878G>A (p.Arg293Gln)
|
|
|
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.911G>A (p.Arg304His)
|
|
|
NM_001378452.1(ITPR1):c.93C>T (p.Gly31=)
|
|
|
NM_001378452.1(ITPR1):c.951+5G>A
|
rs2125171533
|
|
NM_001378452.1(ITPR1):c.951+6_951+8del
|
rs2093612036
|
|
NM_002222.6(ITPR1):c.*1366C>T
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1531G>A
|
rs9817206
|
|