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.4843-8C>T
|
rs41304179
|
0.00119
|
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.6809-19T>C
|
rs62231622
|
0.00076
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
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.5277G>A (p.Ser1759=)
|
rs368425885
|
0.00054
|
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.3657C>T (p.Gly1219=)
|
rs201621621
|
0.00037
|
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.141C>T (p.Asn47=)
|
rs370939479
|
0.00031
|
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=)
|
rs373127487
|
0.00031
|
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.7389C>T (p.Phe2463=)
|
rs200487406
|
0.00021
|
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.2727G>A (p.Lys909=)
|
rs187516662
|
0.00015
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
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.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.3069C>T (p.Ser1023=)
|
rs762618794
|
0.00008
|
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=)
|
rs549363319
|
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.855+8T>G
|
rs750692979
|
0.00007
|
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.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.6348C>T (p.Asn2116=)
|
rs182891619
|
0.00006
|
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=)
|
rs780138157
|
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.4683C>T (p.Pro1561=)
|
rs529789068
|
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.1886+16G>A
|
rs375446884
|
0.00004
|
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn)
|
rs185464679
|
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.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.5691T>C (p.Asp1897=)
|
rs371661663
|
0.00004
|
NM_001378452.1(ITPR1):c.6181-5C>T
|
rs748996100
|
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.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.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.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.4926C>T (p.Pro1642=)
|
rs886058616
|
0.00003
|
NM_001378452.1(ITPR1):c.525+9G>A
|
rs573607286
|
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.1014C>T (p.Asp338=)
|
rs752325769
|
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.3912C>T (p.His1304=)
|
rs556943368
|
0.00002
|
NM_001378452.1(ITPR1):c.4537-18T>C
|
rs769548026
|
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.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.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.1152-6T>C
|
rs752886993
|
0.00001
|
NM_001378452.1(ITPR1):c.1167G>T (p.Arg389=)
|
rs779491938
|
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.1638C>T (p.His546=)
|
rs1464579960
|
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.2205-14G>T
|
rs766020180
|
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.2854T>C (p.Leu952=)
|
rs377497261
|
0.00001
|
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=)
|
rs764301997
|
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.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.3873C>G (p.Phe1291Leu)
|
rs567943387
|
0.00001
|
NM_001378452.1(ITPR1):c.4098G>A (p.Gln1366=)
|
rs774836136
|
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.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.4473C>T (p.Ile1491=)
|
rs192863290
|
0.00001
|
NM_001378452.1(ITPR1):c.4657+9C>G
|
rs757529314
|
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.5364C>T (p.Ser1788=)
|
rs769349793
|
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.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.7365G>A (p.Leu2455=)
|
rs764042735
|
0.00001
|
NM_001378452.1(ITPR1):c.7428C>T (p.Ile2476=)
|
rs758670524
|
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.813G>A (p.Ser271=)
|
rs112057923
|
0.00001
|
NM_001378452.1(ITPR1):c.903C>T (p.Ser301=)
|
rs776454785
|
0.00001
|
NM_001378452.1(ITPR1):c.1021C>A (p.Arg341=)
|
rs2093754929
|
|
NM_001378452.1(ITPR1):c.1035G>A (p.Arg345=)
|
|
|
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.1152-20C>T
|
|
|
NM_001378452.1(ITPR1):c.1239C>T (p.Pro413=)
|
|
|
NM_001378452.1(ITPR1):c.1242G>C (p.Val414=)
|
rs2093821905
|
|
NM_001378452.1(ITPR1):c.1251+17G>T
|
|
|
NM_001378452.1(ITPR1):c.1252-18G>A
|
|
|
NM_001378452.1(ITPR1):c.1296A>C (p.Ile432=)
|
|
|
NM_001378452.1(ITPR1):c.1335T>C (p.Phe445=)
|
|
|
NM_001378452.1(ITPR1):c.1371T>C (p.Ala457=)
|
|
|
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+12C>T
|
|
|
NM_001378452.1(ITPR1):c.1413-15G>A
|
rs148675260
|
|
NM_001378452.1(ITPR1):c.1413-15G>C
|
|
|
NM_001378452.1(ITPR1):c.1431A>G (p.Leu477=)
|
|
|
NM_001378452.1(ITPR1):c.1461A>G (p.Gly487=)
|
|
|
NM_001378452.1(ITPR1):c.1485C>G (p.Leu495=)
|
|
|
NM_001378452.1(ITPR1):c.1554+13T>C
|
|
|
NM_001378452.1(ITPR1):c.1554+16C>T
|
|
|
NM_001378452.1(ITPR1):c.1555-6A>T
|
|
|
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.163+13C>T
|
|
|
NM_001378452.1(ITPR1):c.164-13G>A
|
|
|
NM_001378452.1(ITPR1):c.1665C>G (p.Leu555=)
|
|
|
NM_001378452.1(ITPR1):c.1689G>A (p.Ser563=)
|
rs772649946
|
|
NM_001378452.1(ITPR1):c.1713+14A>C
|
|
|
NM_001378452.1(ITPR1):c.1713+14A>G
|
|
|
NM_001378452.1(ITPR1):c.1714-20T>G
|
|
|
NM_001378452.1(ITPR1):c.1714-7_1714-5del
|
|
|
NM_001378452.1(ITPR1):c.1767G>A (p.Val589=)
|
|
|
NM_001378452.1(ITPR1):c.178C>T (p.Leu60=)
|
rs376974334
|
|
NM_001378452.1(ITPR1):c.1791C>T (p.Ala597=)
|
|
|
NM_001378452.1(ITPR1):c.1875C>T (p.Asn625=)
|
|
|
NM_001378452.1(ITPR1):c.1886+8G>A
|
|
|
NM_001378452.1(ITPR1):c.1887-8C>G
|
|
|
NM_001378452.1(ITPR1):c.1887-8_1887-3del
|
rs766242846
|
|
NM_001378452.1(ITPR1):c.1905C>T (p.Ser635=)
|
|
|
NM_001378452.1(ITPR1):c.1986T>A (p.Ala662=)
|
|
|
NM_001378452.1(ITPR1):c.1992C>A (p.Ile664=)
|
|
|
NM_001378452.1(ITPR1):c.2006+16G>C
|
|
|
NM_001378452.1(ITPR1):c.2006+8G>T
|
|
|
NM_001378452.1(ITPR1):c.2007-15C>T
|
|
|
NM_001378452.1(ITPR1):c.2007-21CCT[2]
|
rs1192769249
|
|
NM_001378452.1(ITPR1):c.2007-7T>C
|
|
|
NM_001378452.1(ITPR1):c.2007-9G>C
|
|
|
NM_001378452.1(ITPR1):c.2109C>T (p.Asp703=)
|
|
|
NM_001378452.1(ITPR1):c.2136T>C (p.Ser712=)
|
|
|
NM_001378452.1(ITPR1):c.2145A>G (p.Glu715=)
|
|
|
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.2205-19C>G
|
|
|
NM_001378452.1(ITPR1):c.2247A>G (p.Gln749=)
|
|
|
NM_001378452.1(ITPR1):c.2262C>T (p.Asn754=)
|
|
|
NM_001378452.1(ITPR1):c.2313C>T (p.Asp771=)
|
|
|
NM_001378452.1(ITPR1):c.2340G>T (p.Ala780=)
|
rs748274420
|
|
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.2451T>A (p.Ile817=)
|
|
|
NM_001378452.1(ITPR1):c.2454C>T (p.Asp818=)
|
|
|
NM_001378452.1(ITPR1):c.2456+13C>T
|
|
|
NM_001378452.1(ITPR1):c.2457-15C>A
|
|
|
NM_001378452.1(ITPR1):c.2475T>C (p.Ala825=)
|
|
|
NM_001378452.1(ITPR1):c.2526G>A (p.Glu842=)
|
|
|
NM_001378452.1(ITPR1):c.2592G>A (p.Thr864=)
|
|
|
NM_001378452.1(ITPR1):c.2631T>C (p.Phe877=)
|
rs745533334
|
|
NM_001378452.1(ITPR1):c.2676T>A (p.Leu892=)
|
rs2094158249
|
|
NM_001378452.1(ITPR1):c.2686T>C (p.Leu896=)
|
|
|
NM_001378452.1(ITPR1):c.2697A>C (p.Val899=)
|
|
|
NM_001378452.1(ITPR1):c.2706A>G (p.Thr902=)
|
|
|
NM_001378452.1(ITPR1):c.2759A>G (p.Asn920Ser)
|
|
|
NM_001378452.1(ITPR1):c.2762A>T (p.Asp921Val)
|
|
|
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+13A>G
|
|
|
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.280-16T>C
|
|
|
NM_001378452.1(ITPR1):c.282C>T (p.His94=)
|
|
|
NM_001378452.1(ITPR1):c.2859C>T (p.Pro953=)
|
|
|
NM_001378452.1(ITPR1):c.2946G>A (p.Leu982=)
|
|
|
NM_001378452.1(ITPR1):c.2967+11G>C
|
|
|
NM_001378452.1(ITPR1):c.2967+16A>G
|
|
|
NM_001378452.1(ITPR1):c.306G>A (p.Gln102=)
|
|
|
NM_001378452.1(ITPR1):c.3107-15G>A
|
|
|
NM_001378452.1(ITPR1):c.3138A>G (p.Gln1046=)
|
|
|
NM_001378452.1(ITPR1):c.3162-12G>C
|
rs752879408
|
|
NM_001378452.1(ITPR1):c.3162-18C>T
|
|
|
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.3198C>T (p.Gly1066=)
|
|
|
NM_001378452.1(ITPR1):c.3207C>A (p.Thr1069=)
|
|
|
NM_001378452.1(ITPR1):c.3261A>C (p.Ser1087=)
|
rs1574844161
|
|
NM_001378452.1(ITPR1):c.3270G>T (p.Leu1090=)
|
|
|
NM_001378452.1(ITPR1):c.3279C>A (p.Leu1093=)
|
|
|
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+7C>T
|
|
|
NM_001378452.1(ITPR1):c.3328-10G>A
|
|
|
NM_001378452.1(ITPR1):c.3328-17G>A
|
|
|
NM_001378452.1(ITPR1):c.336G>A (p.Gly112=)
|
|
|
NM_001378452.1(ITPR1):c.339C>T (p.Thr113=)
|
|
|
NM_001378452.1(ITPR1):c.33T>C (p.Ile11=)
|
|
|
NM_001378452.1(ITPR1):c.3498+11C>T
|
|
|
NM_001378452.1(ITPR1):c.3498+13C>A
|
rs756669707
|
|
NM_001378452.1(ITPR1):c.3499-8G>C
|
|
|
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.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.366+15C>T
|
rs145989158
|
|
NM_001378452.1(ITPR1):c.3663C>T (p.His1221=)
|
|
|
NM_001378452.1(ITPR1):c.367-13G>T
|
|
|
NM_001378452.1(ITPR1):c.3702+16T>A
|
|
|
NM_001378452.1(ITPR1):c.3702+20C>T
|
|
|
NM_001378452.1(ITPR1):c.3702+7G>A
|
|
|
NM_001378452.1(ITPR1):c.3703-11C>T
|
|
|
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.372G>A (p.Leu124=)
|
|
|
NM_001378452.1(ITPR1):c.3756G>A (p.Gln1252=)
|
|
|
NM_001378452.1(ITPR1):c.3759T>C (p.Asn1253=)
|
|
|
NM_001378452.1(ITPR1):c.3795A>G (p.Leu1265=)
|
rs1417859810
|
|
NM_001378452.1(ITPR1):c.3828+21_3828+28del
|
|
|
NM_001378452.1(ITPR1):c.3829-10C>G
|
|
|
NM_001378452.1(ITPR1):c.3840A>G (p.Ala1280=)
|
|
|
NM_001378452.1(ITPR1):c.3852G>A (p.Gln1284=)
|
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
NM_001378452.1(ITPR1):c.3900A>G (p.Arg1300=)
|
|
|
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.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.4080T>C (p.Ser1360=)
|
|
|
NM_001378452.1(ITPR1):c.4095C>T (p.Ile1365=)
|
|
|
NM_001378452.1(ITPR1):c.4185G>A (p.Thr1395=)
|
|
|
NM_001378452.1(ITPR1):c.4221C>T (p.Asn1407=)
|
|
|
NM_001378452.1(ITPR1):c.4234C>T (p.Leu1412=)
|
|
|
NM_001378452.1(ITPR1):c.4245C>A (p.Ile1415=)
|
|
|
NM_001378452.1(ITPR1):c.4245C>T (p.Ile1415=)
|
|
|
NM_001378452.1(ITPR1):c.4263C>T (p.His1421=)
|
|
|
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.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.4395A>G (p.Val1465=)
|
|
|
NM_001378452.1(ITPR1):c.4407+11T>C
|
|
|
NM_001378452.1(ITPR1):c.4407+14A>C
|
|
|
NM_001378452.1(ITPR1):c.4407+8T>A
|
|
|
NM_001378452.1(ITPR1):c.4408-16C>T
|
|
|
NM_001378452.1(ITPR1):c.4408-9G>A
|
|
|
NM_001378452.1(ITPR1):c.4446G>A (p.Ser1482=)
|
|
|
NM_001378452.1(ITPR1):c.4464C>T (p.Val1488=)
|
|
|
NM_001378452.1(ITPR1):c.4467C>T (p.Thr1489=)
|
|
|
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.4537-20C>A
|
|
|
NM_001378452.1(ITPR1):c.4537-20C>T
|
|
|
NM_001378452.1(ITPR1):c.4545G>A (p.Gln1515=)
|
|
|
NM_001378452.1(ITPR1):c.456C>T (p.Asp152=)
|
|
|
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.4731C>T (p.Ser1577=)
|
rs2125272834
|
|
NM_001378452.1(ITPR1):c.4788G>A (p.Arg1596=)
|
|
|
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+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.4843-19G>T
|
|
|
NM_001378452.1(ITPR1):c.4843-8C>G
|
|
|
NM_001378452.1(ITPR1):c.4872C>T (p.Leu1624=)
|
|
|
NM_001378452.1(ITPR1):c.4920C>T (p.His1640=)
|
|
|
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.4992-20G>A
|
|
|
NM_001378452.1(ITPR1):c.4992-7C>G
|
|
|
NM_001378452.1(ITPR1):c.4992-7del
|
rs546612625
|
|
NM_001378452.1(ITPR1):c.5004T>C (p.His1668=)
|
|
|
NM_001378452.1(ITPR1):c.501C>T (p.Tyr167=)
|
|
|
NM_001378452.1(ITPR1):c.5079C>G (p.Thr1693=)
|
rs1248702584
|
|
NM_001378452.1(ITPR1):c.5103+9T>C
|
|
|
NM_001378452.1(ITPR1):c.5221-15C>A
|
rs2125317871
|
|
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.526-9C>T
|
|
|
NM_001378452.1(ITPR1):c.5277G>C (p.Ser1759=)
|
rs368425885
|
|
NM_001378452.1(ITPR1):c.5292C>T (p.Ser1764=)
|
|
|
NM_001378452.1(ITPR1):c.5310T>C (p.Asn1770=)
|
|
|
NM_001378452.1(ITPR1):c.5346G>C (p.Gly1782=)
|
|
|
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>G
|
|
|
NM_001378452.1(ITPR1):c.5382C>T (p.Ser1794=)
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NM_001378452.1(ITPR1):c.5460C>T (p.Ile1820=)
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NM_001378452.1(ITPR1):c.5469A>C (p.Ala1823=)
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NM_001378452.1(ITPR1):c.54C>T (p.Tyr18=)
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NM_001378452.1(ITPR1):c.5544+16G>A
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NM_001378452.1(ITPR1):c.5545-18A>G
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NM_001378452.1(ITPR1):c.5556C>T (p.Phe1852=)
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NM_001378452.1(ITPR1):c.5563T>C (p.Leu1855=)
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NM_001378452.1(ITPR1):c.5577G>A (p.Lys1859=)
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NM_001378452.1(ITPR1):c.5598G>A (p.Lys1866=)
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NM_001378452.1(ITPR1):c.5649G>A (p.Val1883=)
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NM_001378452.1(ITPR1):c.564T>C (p.Asn188=)
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NM_001378452.1(ITPR1):c.5688C>T (p.Asp1896=)
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NM_001378452.1(ITPR1):c.5709C>A (p.Ala1903=)
|
rs776704462
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NM_001378452.1(ITPR1):c.5715A>G (p.Ser1905=)
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NM_001378452.1(ITPR1):c.5733G>A (p.Glu1911=)
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NM_001378452.1(ITPR1):c.5799A>G (p.Lys1933=)
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NM_001378452.1(ITPR1):c.5802C>T (p.Ala1934=)
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NM_001378452.1(ITPR1):c.5832C>T (p.Pro1944=)
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NM_001378452.1(ITPR1):c.5865G>A (p.Gln1955=)
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NM_001378452.1(ITPR1):c.5874C>T (p.Ala1958=)
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NM_001378452.1(ITPR1):c.5907G>A (p.Ala1969=)
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NM_001378452.1(ITPR1):c.5910C>T (p.Val1970=)
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rs753430331
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NM_001378452.1(ITPR1):c.5928C>T (p.Pro1976=)
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NM_001378452.1(ITPR1):c.5931C>A (p.Ile1977=)
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NM_001378452.1(ITPR1):c.6015C>T (p.Tyr2005=)
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NM_001378452.1(ITPR1):c.6019T>C (p.Leu2007=)
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NM_001378452.1(ITPR1):c.6024A>G (p.Val2008=)
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NM_001378452.1(ITPR1):c.603A>G (p.Val201=)
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NM_001378452.1(ITPR1):c.6072A>T (p.Gly2024=)
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NM_001378452.1(ITPR1):c.6180+19T>C
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NM_001378452.1(ITPR1):c.6229C>T (p.Leu2077=)
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NM_001378452.1(ITPR1):c.625-15G>A
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NM_001378452.1(ITPR1):c.625-16C>G
|
rs536653326
|
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NM_001378452.1(ITPR1):c.6291+9G>A
|
rs1385142016
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NM_001378452.1(ITPR1):c.6303G>A (p.Ser2101=)
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NM_001378452.1(ITPR1):c.6312C>T (p.Leu2104=)
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NM_001378452.1(ITPR1):c.6336C>T (p.His2112=)
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NM_001378452.1(ITPR1):c.633C>T (p.Ser211=)
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NM_001378452.1(ITPR1):c.636C>T (p.Val212=)
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NM_001378452.1(ITPR1):c.6387+14C>T
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NM_001378452.1(ITPR1):c.6387+7C>T
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NM_001378452.1(ITPR1):c.6388-13G>A
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NM_001378452.1(ITPR1):c.6388-14G>C
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NM_001378452.1(ITPR1):c.6388-15T>G
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NM_001378452.1(ITPR1):c.6388-17C>G
|
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NM_001378452.1(ITPR1):c.6408C>G (p.Ala2136=)
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NM_001378452.1(ITPR1):c.6462G>A (p.Ala2154=)
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NM_001378452.1(ITPR1):c.6465G>A (p.Ala2155=)
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NM_001378452.1(ITPR1):c.6510+20T>G
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NM_001378452.1(ITPR1):c.6511-4C>G
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NM_001378452.1(ITPR1):c.6534T>A (p.Leu2178=)
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NM_001378452.1(ITPR1):c.6567C>T (p.Asp2189=)
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NM_001378452.1(ITPR1):c.6606G>A (p.Ala2202=)
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NM_001378452.1(ITPR1):c.6616-11T>C
|
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NM_001378452.1(ITPR1):c.6616-17C>T
|
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NM_001378452.1(ITPR1):c.6735C>A (p.Gly2245=)
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NM_001378452.1(ITPR1):c.6741A>G (p.Lys2247=)
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NM_001378452.1(ITPR1):c.6771C>T (p.Asp2257=)
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NM_001378452.1(ITPR1):c.6808+12C>T
|
|
|
NM_001378452.1(ITPR1):c.6808+17C>T
|
|
|
NM_001378452.1(ITPR1):c.6809-15C>T
|
rs774439941
|
|
NM_001378452.1(ITPR1):c.6816C>T (p.Pro2272=)
|
|
|
NM_001378452.1(ITPR1):c.6831T>C (p.Cys2277=)
|
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NM_001378452.1(ITPR1):c.6900G>A (p.Ala2300=)
|
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|
NM_001378452.1(ITPR1):c.6924C>T (p.Val2308=)
|
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|
NM_001378452.1(ITPR1):c.6932-17C>G
|
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NM_001378452.1(ITPR1):c.6936C>A (p.Thr2312=)
|
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NM_001378452.1(ITPR1):c.6984T>C (p.Ser2328=)
|
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|
NM_001378452.1(ITPR1):c.7002C>T (p.Ala2334=)
|
|
|
NM_001378452.1(ITPR1):c.7005C>T (p.Leu2335=)
|
rs2125423325
|
|
NM_001378452.1(ITPR1):c.7023C>T (p.Ile2341=)
|
|
|
NM_001378452.1(ITPR1):c.7029C>T (p.Ala2343=)
|
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NM_001378452.1(ITPR1):c.7050A>G (p.Leu2350=)
|
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NM_001378452.1(ITPR1):c.708+15T>A
|
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NM_001378452.1(ITPR1):c.708+18T>C
|
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NM_001378452.1(ITPR1):c.708+18T>G
|
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NM_001378452.1(ITPR1):c.708+20G>A
|
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NM_001378452.1(ITPR1):c.7080C>T (p.Pro2360=)
|
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NM_001378452.1(ITPR1):c.7083G>A (p.Thr2361=)
|
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NM_001378452.1(ITPR1):c.7107+15C>A
|
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NM_001378452.1(ITPR1):c.7108-16del
|
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NM_001378452.1(ITPR1):c.7108-20G>A
|
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NM_001378452.1(ITPR1):c.714C>T (p.Asp238=)
|
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|
NM_001378452.1(ITPR1):c.7191T>C (p.Asp2397=)
|
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|
NM_001378452.1(ITPR1):c.7200C>T (p.Phe2400=)
|
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|
NM_001378452.1(ITPR1):c.7269G>T (p.Leu2423=)
|
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|
NM_001378452.1(ITPR1):c.7272+10T>G
|
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NM_001378452.1(ITPR1):c.7272+12G>C
|
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NM_001378452.1(ITPR1):c.7272+14G>A
|
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|
NM_001378452.1(ITPR1):c.7273-10_7273-7del
|
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|
NM_001378452.1(ITPR1):c.7320A>G (p.Lys2440=)
|
|
|
NM_001378452.1(ITPR1):c.7443G>A (p.Arg2481=)
|
|
|
NM_001378452.1(ITPR1):c.7468+14C>G
|
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|
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.7476C>A (p.Gly2492=)
|
|
|
NM_001378452.1(ITPR1):c.7500G>C (p.Leu2500=)
|
|
|
NM_001378452.1(ITPR1):c.7561+15C>A
|
|
|
NM_001378452.1(ITPR1):c.762C>T (p.Asp254=)
|
|
|
NM_001378452.1(ITPR1):c.7868-13G>A
|
|
|
NM_001378452.1(ITPR1):c.7868-20G>A
|
|
|
NM_001378452.1(ITPR1):c.7953C>T (p.Cys2651=)
|
rs774135923
|
|
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.8028+17C>G
|
|
|
NM_001378452.1(ITPR1):c.8028+20G>A
|
|
|
NM_001378452.1(ITPR1):c.8029-19T>C
|
|
|
NM_001378452.1(ITPR1):c.8029-4C>T
|
rs1360786935
|
|
NM_001378452.1(ITPR1):c.8029-8G>C
|
|
|
NM_001378452.1(ITPR1):c.8070A>G (p.Ser2690=)
|
rs764602780
|
|
NM_001378452.1(ITPR1):c.807G>A (p.Arg269=)
|
|
|
NM_001378452.1(ITPR1):c.8082T>C (p.Ser2694=)
|
|
|
NM_001378452.1(ITPR1):c.8121G>A (p.Gln2707=)
|
|
|
NM_001378452.1(ITPR1):c.8190+16C>G
|
|
|
NM_001378452.1(ITPR1):c.8190+17C>T
|
|
|
NM_001378452.1(ITPR1):c.8191-20G>A
|
|
|
NM_001378452.1(ITPR1):c.8274A>G (p.Ala2758=)
|
|
|
NM_001378452.1(ITPR1):c.8276A>G (p.Ter2759=)
|
|
|
NM_001378452.1(ITPR1):c.831T>C (p.Ser277=)
|
|
|
NM_001378452.1(ITPR1):c.906T>C (p.Leu302=)
|
|
|
NM_001378452.1(ITPR1):c.93-18T>C
|
|
|
NM_001378452.1(ITPR1):c.933G>A (p.Gly311=)
|
|
|
NM_001378452.1(ITPR1):c.951+11G>A
|
|
|
NM_001378452.1(ITPR1):c.951+20G>A
|
|
|
NM_001378452.1(ITPR1):c.951+9C>A
|
rs908832824
|
|
NM_001378452.1(ITPR1):c.997-15A>G
|
|
|