NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)
|
rs6442905
|
0.96699
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
NM_001378452.1(ITPR1):c.4536+651A>G
|
rs6762644
|
0.38968
|
NM_001378452.1(ITPR1):c.4536+626A>G
|
rs6762558
|
0.33866
|
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.1412+11C>T
|
rs7632000
|
0.04752
|
NM_001378452.1(ITPR1):c.1412+13G>A
|
rs11920643
|
0.04035
|
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=)
|
rs34491089
|
0.02052
|
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.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.1886+20C>A
|
rs115097974
|
0.00819
|
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.4030-17C>T
|
rs72997345
|
0.00710
|
NM_001378452.1(ITPR1):c.526-20A>G
|
rs183924664
|
0.00598
|
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=)
|
rs35047189
|
0.00575
|
NM_001378452.1(ITPR1):c.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.2334C>T (p.Leu778=)
|
rs36103112
|
0.00328
|
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=)
|
rs139528715
|
0.00306
|
NM_001378452.1(ITPR1):c.5979+18G>A
|
rs142949720
|
0.00292
|
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)
|
rs35946460
|
0.00289
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_001378452.1(ITPR1):c.624+18T>C
|
rs145400239
|
0.00221
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_001378452.1(ITPR1):c.1886+7C>T
|
rs181465598
|
0.00207
|
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)
|
rs28565126
|
0.00201
|
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)
|
rs79720149
|
0.00191
|
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.5889C>T (p.Asp1963=)
|
rs377489220
|
0.00140
|
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=)
|
rs367643585
|
0.00120
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)
|
rs3749383
|
0.00102
|
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)
|
rs200705345
|
0.00090
|
NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=)
|
rs192247062
|
0.00082
|
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=)
|
rs113368815
|
0.00078
|
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=)
|
rs140402012
|
0.00077
|
NM_001378452.1(ITPR1):c.855+15G>C
|
rs372994951
|
0.00077
|
NM_001378452.1(ITPR1):c.6809-19T>C
|
rs62231622
|
0.00076
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_001378452.1(ITPR1):c.3106+13G>A
|
rs374750708
|
0.00069
|
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=)
|
rs61757106
|
0.00066
|
NM_001378452.1(ITPR1):c.3610G>A (p.Val1204Met)
|
rs547074301
|
0.00064
|
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=)
|
rs199960483
|
0.00063
|
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=)
|
rs200426774
|
0.00063
|
NM_001378452.1(ITPR1):c.3327+14C>A
|
rs369649805
|
0.00057
|
NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=)
|
rs368425885
|
0.00054
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
NM_001378452.1(ITPR1):c.5544+10C>T
|
rs191829356
|
0.00050
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_001378452.1(ITPR1):c.4658-18C>T
|
rs370940812
|
0.00048
|
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)
|
rs112944532
|
0.00048
|
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)
|
rs201519806
|
0.00044
|
NM_001378452.1(ITPR1):c.526-8C>T
|
rs369328275
|
0.00039
|
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=)
|
rs201621621
|
0.00037
|
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile)
|
rs200646875
|
0.00037
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=)
|
rs202123078
|
0.00034
|
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=)
|
rs41290672
|
0.00034
|
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)
|
rs373973399
|
0.00032
|
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=)
|
rs370939479
|
0.00031
|
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=)
|
rs373127487
|
0.00031
|
NM_001378452.1(ITPR1):c.1380A>G (p.Leu460=)
|
rs375697840
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=)
|
rs368405302
|
0.00029
|
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=)
|
rs201311531
|
0.00027
|
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn)
|
rs371186107
|
0.00026
|
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)
|
rs367814655
|
0.00025
|
NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=)
|
rs144178989
|
0.00025
|
NM_001378452.1(ITPR1):c.5088A>G (p.Arg1696=)
|
rs375480720
|
0.00023
|
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val)
|
rs188477537
|
0.00023
|
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg)
|
rs373359869
|
0.00023
|
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=)
|
rs371986594
|
0.00022
|
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=)
|
rs370157764
|
0.00022
|
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=)
|
rs200487406
|
0.00021
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001378452.1(ITPR1):c.4164C>T (p.Val1388=)
|
rs375770679
|
0.00019
|
NM_001378452.1(ITPR1):c.6876C>T (p.Ala2292=)
|
rs373926844
|
0.00019
|
NM_001378452.1(ITPR1):c.1104C>T (p.Phe368=)
|
rs552561627
|
0.00017
|
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=)
|
rs375234629
|
0.00016
|
NM_001378452.1(ITPR1):c.2007-7T>G
|
rs764512335
|
0.00016
|
NM_001378452.1(ITPR1):c.4843-7G>A
|
rs184969640
|
0.00016
|
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)
|
rs200534989
|
0.00016
|
NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=)
|
rs187516662
|
0.00015
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=)
|
rs375533002
|
0.00014
|
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)
|
rs201263269
|
0.00014
|
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)
|
rs369681244
|
0.00014
|
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile)
|
rs752031193
|
0.00013
|
NM_001378452.1(ITPR1):c.6180+11T>A
|
rs772860677
|
0.00013
|
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=)
|
rs375801584
|
0.00011
|
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys)
|
rs377248442
|
0.00011
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=)
|
rs375227391
|
0.00011
|
NM_001378452.1(ITPR1):c.1983C>T (p.Asn661=)
|
rs369495242
|
0.00010
|
NM_001378452.1(ITPR1):c.7926A>G (p.Glu2642=)
|
rs763498610
|
0.00010
|
NM_001378452.1(ITPR1):c.8277A>G (p.Ter2759=)
|
rs376816678
|
0.00009
|
NM_001378452.1(ITPR1):c.855+18A>G
|
rs544750246
|
0.00009
|
NM_001378452.1(ITPR1):c.3069C>T (p.Ser1023=)
|
rs762618794
|
0.00008
|
NM_001378452.1(ITPR1):c.4246G>A (p.Val1416Ile)
|
rs373436949
|
0.00008
|
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=)
|
rs549363319
|
0.00008
|
NM_001378452.1(ITPR1):c.997-6C>T
|
rs139421901
|
0.00008
|
NM_001378452.1(ITPR1):c.2187C>T (p.Asp729=)
|
rs376805768
|
0.00007
|
NM_001378452.1(ITPR1):c.4848C>T (p.Ile1616=)
|
rs746194855
|
0.00007
|
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser)
|
rs369108656
|
0.00007
|
NM_001378452.1(ITPR1):c.855+8T>G
|
rs750692979
|
0.00007
|
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile)
|
rs370701686
|
0.00006
|
NM_001378452.1(ITPR1):c.280-10C>A
|
rs761952049
|
0.00006
|
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=)
|
rs373515668
|
0.00006
|
NM_001378452.1(ITPR1):c.3495G>A (p.Thr1165=)
|
rs781586783
|
0.00006
|
NM_001378452.1(ITPR1):c.3565-4C>T
|
rs374122245
|
0.00006
|
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr)
|
rs372881053
|
0.00006
|
NM_001378452.1(ITPR1):c.3666C>T (p.Ala1222=)
|
rs763869150
|
0.00006
|
NM_001378452.1(ITPR1):c.4542C>T (p.Arg1514=)
|
rs770868001
|
0.00006
|
NM_001378452.1(ITPR1):c.4572C>T (p.Gly1524=)
|
rs200605212
|
0.00006
|
NM_001378452.1(ITPR1):c.5397T>G (p.Ser1799Arg)
|
rs376278816
|
0.00006
|
NM_001378452.1(ITPR1):c.5905G>A (p.Ala1969Thr)
|
rs369005032
|
0.00006
|
NM_001378452.1(ITPR1):c.6348C>T (p.Asn2116=)
|
rs182891619
|
0.00006
|
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=)
|
rs780138157
|
0.00006
|
NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser)
|
rs187571979
|
0.00006
|
NM_001378452.1(ITPR1):c.783C>T (p.His261=)
|
rs542591284
|
0.00006
|
NM_001378452.1(ITPR1):c.8010C>T (p.Tyr2670=)
|
rs372433483
|
0.00006
|
NM_001378452.1(ITPR1):c.8154G>A (p.Thr2718=)
|
rs368813104
|
0.00006
|
NM_001378452.1(ITPR1):c.1714-9C>A
|
rs367806130
|
0.00005
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
NM_001378452.1(ITPR1):c.3447C>T (p.Pro1149=)
|
rs372672483
|
0.00005
|
NM_001378452.1(ITPR1):c.366+15C>G
|
rs145989158
|
0.00005
|
NM_001378452.1(ITPR1):c.3846C>T (p.Thr1282=)
|
rs767697214
|
0.00005
|
NM_001378452.1(ITPR1):c.3893A>G (p.Asn1298Ser)
|
rs757563485
|
0.00005
|
NM_001378452.1(ITPR1):c.4683C>T (p.Pro1561=)
|
rs529789068
|
0.00005
|
NM_001378452.1(ITPR1):c.4783C>T (p.Arg1595Cys)
|
rs373619512
|
0.00005
|
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser)
|
rs200927261
|
0.00005
|
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=)
|
rs35343277
|
0.00005
|
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=)
|
rs545754582
|
0.00005
|
NM_001378452.1(ITPR1):c.7197G>A (p.Glu2399=)
|
rs538209212
|
0.00005
|
NM_001378452.1(ITPR1):c.1161T>C (p.Tyr387=)
|
rs565375216
|
0.00004
|
NM_001378452.1(ITPR1):c.1413-16C>T
|
rs369770816
|
0.00004
|
NM_001378452.1(ITPR1):c.1554+3C>T
|
rs781141738
|
0.00004
|
NM_001378452.1(ITPR1):c.1554+6T>G
|
rs371214686
|
0.00004
|
NM_001378452.1(ITPR1):c.1886+16G>A
|
rs375446884
|
0.00004
|
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn)
|
rs185464679
|
0.00004
|
NM_001378452.1(ITPR1):c.2204+4C>T
|
rs374620253
|
0.00004
|
NM_001378452.1(ITPR1):c.2349C>T (p.Cys783=)
|
rs770093543
|
0.00004
|
NM_001378452.1(ITPR1):c.2967+8C>T
|
rs1166014936
|
0.00004
|
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=)
|
rs745351516
|
0.00004
|
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met)
|
rs755486931
|
0.00004
|
NM_001378452.1(ITPR1):c.3564+5G>T
|
rs371420259
|
0.00004
|
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)
|
rs768179678
|
0.00004
|
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=)
|
rs542486327
|
0.00004
|
NM_001378452.1(ITPR1):c.4537-6T>C
|
rs557642414
|
0.00004
|
NM_001378452.1(ITPR1):c.4991+10C>G
|
rs1400163478
|
0.00004
|
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser)
|
rs760608076
|
0.00004
|
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=)
|
rs371661663
|
0.00004
|
NM_001378452.1(ITPR1):c.5800G>A (p.Ala1934Thr)
|
rs373554736
|
0.00004
|
NM_001378452.1(ITPR1):c.6181-5C>T
|
rs748996100
|
0.00004
|
NM_001378452.1(ITPR1):c.6440G>C (p.Gly2147Ala)
|
rs371303646
|
0.00004
|
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser)
|
rs199890939
|
0.00004
|
NM_001378452.1(ITPR1):c.6726C>T (p.Asp2242=)
|
rs114359276
|
0.00004
|
NM_001378452.1(ITPR1):c.6808+8C>G
|
rs2270749
|
0.00004
|
NM_001378452.1(ITPR1):c.709-6T>C
|
rs374932152
|
0.00004
|
NM_001378452.1(ITPR1):c.7528G>A (p.Gly2510Arg)
|
rs868822649
|
0.00004
|
NM_001378452.1(ITPR1):c.7868-16T>C
|
rs374409086
|
0.00004
|
NM_001378452.1(ITPR1):c.7992T>C (p.Tyr2664=)
|
rs201894676
|
0.00004
|
NM_001378452.1(ITPR1):c.8031A>G (p.Glu2677=)
|
rs768066092
|
0.00004
|
NM_001378452.1(ITPR1):c.929C>T (p.Thr310Met)
|
rs201693219
|
0.00004
|
NM_001378452.1(ITPR1):c.1016C>A (p.Ala339Asp)
|
rs755837192
|
0.00003
|
NM_001378452.1(ITPR1):c.1413-4T>A
|
rs761813644
|
0.00003
|
NM_001378452.1(ITPR1):c.1833C>T (p.Thr611=)
|
rs546056087
|
0.00003
|
NM_001378452.1(ITPR1):c.2456+20_2456+23dup
|
rs1412066204
|
0.00003
|
NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=)
|
rs562572079
|
0.00003
|
NM_001378452.1(ITPR1):c.279C>T (p.His93=)
|
rs371299264
|
0.00003
|
NM_001378452.1(ITPR1):c.337A>G (p.Thr113Ala)
|
rs745891343
|
0.00003
|
NM_001378452.1(ITPR1):c.3498+6T>C
|
rs753276679
|
0.00003
|
NM_001378452.1(ITPR1):c.3576G>T (p.Arg1192=)
|
rs767237814
|
0.00003
|
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=)
|
rs373572745
|
0.00003
|
NM_001378452.1(ITPR1):c.4377G>A (p.Leu1459=)
|
rs566552796
|
0.00003
|
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=)
|
rs886058616
|
0.00003
|
NM_001378452.1(ITPR1):c.525+9G>A
|
rs573607286
|
0.00003
|
NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr)
|
rs949938763
|
0.00003
|
NM_001378452.1(ITPR1):c.625-14A>T
|
rs368114873
|
0.00003
|
NM_001378452.1(ITPR1):c.6693A>G (p.Ser2231=)
|
rs763938511
|
0.00003
|
NM_001378452.1(ITPR1):c.6808+13G>A
|
rs374084743
|
0.00003
|
NM_001378452.1(ITPR1):c.6993C>T (p.Ile2331=)
|
rs369778265
|
0.00003
|
NM_001378452.1(ITPR1):c.7272+15T>A
|
rs777868994
|
0.00003
|
NM_001378452.1(ITPR1):c.1014C>T (p.Asp338=)
|
rs752325769
|
0.00002
|
NM_001378452.1(ITPR1):c.1492G>T (p.Val498Phe)
|
rs756745652
|
0.00002
|
NM_001378452.1(ITPR1):c.1714-12C>T
|
rs765853714
|
0.00002
|
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)
|
rs563347395
|
0.00002
|
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=)
|
rs748274420
|
0.00002
|
NM_001378452.1(ITPR1):c.2586G>C (p.Lys862Asn)
|
rs780454319
|
0.00002
|
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)
|
rs1467772045
|
0.00002
|
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala)
|
rs773251870
|
0.00002
|
NM_001378452.1(ITPR1):c.3912C>T (p.His1304=)
|
rs556943368
|
0.00002
|
NM_001378452.1(ITPR1):c.4537-18T>C
|
rs769548026
|
0.00002
|
NM_001378452.1(ITPR1):c.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.5336G>T (p.Gly1779Val)
|
rs749571656
|
0.00002
|
NM_001378452.1(ITPR1):c.5737A>C (p.Thr1913Pro)
|
rs71313897
|
0.00002
|
NM_001378452.1(ITPR1):c.5838C>T (p.Asp1946=)
|
rs755937487
|
0.00002
|
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=)
|
rs748401794
|
0.00002
|
NM_001378452.1(ITPR1):c.625-19A>G
|
rs1470591499
|
0.00002
|
NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile)
|
rs774735244
|
0.00002
|
NM_001378452.1(ITPR1):c.6561A>T (p.Gln2187His)
|
rs1369061682
|
0.00002
|
NM_001378452.1(ITPR1):c.6701G>A (p.Arg2234Gln)
|
rs761779906
|
0.00002
|
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met)
|
rs767779223
|
0.00002
|
NM_001378452.1(ITPR1):c.7386G>C (p.Leu2462=)
|
rs757334294
|
0.00002
|
NM_001378452.1(ITPR1):c.7872G>A (p.Leu2624=)
|
rs780714476
|
0.00002
|
NM_001378452.1(ITPR1):c.8175G>A (p.Ser2725=)
|
rs767821093
|
0.00002
|
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val)
|
rs201934670
|
0.00002
|
NM_001378452.1(ITPR1):c.1022G>A (p.Arg341Gln)
|
rs373174492
|
0.00001
|
NM_001378452.1(ITPR1):c.1051A>T (p.Met351Leu)
|
rs759008439
|
0.00001
|
NM_001378452.1(ITPR1):c.1152-6T>C
|
rs752886993
|
0.00001
|
NM_001378452.1(ITPR1):c.1167G>T (p.Arg389=)
|
rs779491938
|
0.00001
|
NM_001378452.1(ITPR1):c.1251+7C>T
|
rs773078694
|
0.00001
|
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser)
|
rs561470737
|
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.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.2125C>T (p.Arg709Cys)
|
rs1169304800
|
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.2446G>A (p.Ala816Thr)
|
rs778051422
|
0.00001
|
NM_001378452.1(ITPR1):c.2456+6C>T
|
rs779086270
|
0.00001
|
NM_001378452.1(ITPR1):c.2809G>A (p.Val937Met)
|
rs751172849
|
0.00001
|
NM_001378452.1(ITPR1):c.2854T>C (p.Leu952=)
|
rs377497261
|
0.00001
|
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile)
|
rs543514234
|
0.00001
|
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=)
|
rs764301997
|
0.00001
|
NM_001378452.1(ITPR1):c.2888G>A (p.Gly963Asp)
|
rs777204180
|
0.00001
|
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met)
|
rs776228202
|
0.00001
|
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)
|
rs1574832115
|
0.00001
|
NM_001378452.1(ITPR1):c.303G>A (p.Lys101=)
|
rs374450149
|
0.00001
|
NM_001378452.1(ITPR1):c.3162-20C>T
|
rs751455829
|
0.00001
|
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)
|
rs747698039
|
0.00001
|
NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe)
|
rs1278034455
|
0.00001
|
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=)
|
rs764767201
|
0.00001
|
NM_001378452.1(ITPR1):c.3564+9C>T
|
rs564799796
|
0.00001
|
NM_001378452.1(ITPR1):c.3703-19T>C
|
rs1275860113
|
0.00001
|
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn)
|
rs773030719
|
0.00001
|
NM_001378452.1(ITPR1):c.3873C>G (p.Phe1291Leu)
|
rs567943387
|
0.00001
|
NM_001378452.1(ITPR1):c.3916G>A (p.Val1306Ile)
|
rs187604016
|
0.00001
|
NM_001378452.1(ITPR1):c.4015A>G (p.Met1339Val)
|
rs372380638
|
0.00001
|
NM_001378452.1(ITPR1):c.4098G>A (p.Gln1366=)
|
rs774836136
|
0.00001
|
NM_001378452.1(ITPR1):c.4114C>T (p.Arg1372Trp)
|
rs777018717
|
0.00001
|
NM_001378452.1(ITPR1):c.4155C>T (p.Ile1385=)
|
rs267599850
|
0.00001
|
NM_001378452.1(ITPR1):c.4242C>T (p.Asp1414=)
|
rs776080261
|
0.00001
|
NM_001378452.1(ITPR1):c.4251C>T (p.Arg1417=)
|
rs375223250
|
0.00001
|
NM_001378452.1(ITPR1):c.4293A>C (p.Ala1431=)
|
rs769168934
|
0.00001
|
NM_001378452.1(ITPR1):c.4398C>T (p.Asp1466=)
|
rs1160840466
|
0.00001
|
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr)
|
rs1392354334
|
0.00001
|
NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=)
|
rs192863290
|
0.00001
|
NM_001378452.1(ITPR1):c.4657+9C>G
|
rs757529314
|
0.00001
|
NM_001378452.1(ITPR1):c.4658-3C>T
|
rs779986666
|
0.00001
|
NM_001378452.1(ITPR1):c.4689C>T (p.Asp1563=)
|
rs549933249
|
0.00001
|
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=)
|
rs886058578
|
0.00001
|
NM_001378452.1(ITPR1):c.4968T>C (p.Cys1656=)
|
rs1345459380
|
0.00001
|
NM_001378452.1(ITPR1):c.4992-15T>G
|
rs552425239
|
0.00001
|
NM_001378452.1(ITPR1):c.525C>T (p.Ser175=)
|
rs539657017
|
0.00001
|
NM_001378452.1(ITPR1):c.5354G>T (p.Gly1785Val)
|
rs200004069
|
0.00001
|
NM_001378452.1(ITPR1):c.5364C>T (p.Ser1788=)
|
rs769349793
|
0.00001
|
NM_001378452.1(ITPR1):c.5413T>A (p.Cys1805Ser)
|
rs1377176027
|
0.00001
|
NM_001378452.1(ITPR1):c.5689G>A (p.Asp1897Asn)
|
rs370615766
|
0.00001
|
NM_001378452.1(ITPR1):c.5760C>T (p.Val1920=)
|
rs773926755
|
0.00001
|
NM_001378452.1(ITPR1):c.5784C>T (p.Ser1928=)
|
rs553415592
|
0.00001
|
NM_001378452.1(ITPR1):c.5785G>A (p.Ala1929Thr)
|
rs377199612
|
0.00001
|
NM_001378452.1(ITPR1):c.5867C>T (p.Ala1956Val)
|
rs769041115
|
0.00001
|
NM_001378452.1(ITPR1):c.5931C>T (p.Ile1977=)
|
rs780156889
|
0.00001
|
NM_001378452.1(ITPR1):c.5979+19G>A
|
rs776360563
|
0.00001
|
NM_001378452.1(ITPR1):c.6069T>C (p.Thr2023=)
|
rs374602663
|
0.00001
|
NM_001378452.1(ITPR1):c.6511-7A>G
|
rs537619023
|
0.00001
|
NM_001378452.1(ITPR1):c.6603G>A (p.Thr2201=)
|
rs149339933
|
0.00001
|
NM_001378452.1(ITPR1):c.6711T>C (p.Tyr2237=)
|
rs750456014
|
0.00001
|
NM_001378452.1(ITPR1):c.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.7250A>G (p.His2417Arg)
|
rs1250950938
|
0.00001
|
NM_001378452.1(ITPR1):c.7365G>A (p.Leu2455=)
|
rs764042735
|
0.00001
|
NM_001378452.1(ITPR1):c.7428C>T (p.Ile2476=)
|
rs758670524
|
0.00001
|
NM_001378452.1(ITPR1):c.7484_7516del (p.Leu2495_Arg2506delinsTrp)
|
rs1264194781
|
0.00001
|
NM_001378452.1(ITPR1):c.765A>G (p.Glu255=)
|
rs926159378
|
0.00001
|
NM_001378452.1(ITPR1):c.8029-7A>C
|
rs918140965
|
0.00001
|
NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln)
|
rs760588490
|
0.00001
|
NM_001378452.1(ITPR1):c.813G>A (p.Ser271=)
|
rs112057923
|
0.00001
|
NM_001378452.1(ITPR1):c.8161T>C (p.Ser2721Pro)
|
rs1394842658
|
0.00001
|
NM_001378452.1(ITPR1):c.8258A>G (p.Asn2753Ser)
|
rs762416053
|
0.00001
|
NM_001378452.1(ITPR1):c.903C>T (p.Ser301=)
|
rs776454785
|
0.00001
|
NC_000003.11:g.(?_4558176)_(4562798_?)del
|
|
|
NC_000003.11:g.(?_4669427)_(4715091_?)del
|
|
|
NM_001378452.1(ITPR1):c.1021C>A (p.Arg341=)
|
rs2093754929
|
|
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys)
|
rs779003637
|
|
NM_001378452.1(ITPR1):c.1033C>A (p.Arg345=)
|
rs369055445
|
|
NM_001378452.1(ITPR1):c.1033C>T (p.Arg345Trp)
|
rs369055445
|
|
NM_001378452.1(ITPR1):c.1035G>A (p.Arg345=)
|
|
|
NM_001378452.1(ITPR1):c.1043A>G (p.Gln348Arg)
|
|
|
NM_001378452.1(ITPR1):c.1052T>C (p.Met351Thr)
|
|
|
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)
|
rs2124927471
|
|
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)
|
rs1057518026
|
|
NM_001378452.1(ITPR1):c.1085A>G (p.Asn362Ser)
|
|
|
NM_001378452.1(ITPR1):c.1093T>G (p.Ser365Ala)
|
rs2093756773
|
|
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>T (p.Arg376Leu)
|
|
|
NM_001378452.1(ITPR1):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001378452.1(ITPR1):c.1140C>T (p.Ser380=)
|
|
|
NM_001378452.1(ITPR1):c.1146C>A (p.Val382=)
|
|
|
NM_001378452.1(ITPR1):c.1151+11A>G
|
rs2125184641
|
|
NM_001378452.1(ITPR1):c.1152-10dup
|
|
|
NM_001378452.1(ITPR1):c.1152-20C>T
|
|
|
NM_001378452.1(ITPR1):c.1152G>A (p.Arg384=)
|
|
|
NM_001378452.1(ITPR1):c.1186A>G (p.Asn396Asp)
|
|
|
NM_001378452.1(ITPR1):c.1213C>G (p.Pro405Ala)
|
|
|
NM_001378452.1(ITPR1):c.1239C>T (p.Pro413=)
|
|
|
NM_001378452.1(ITPR1):c.1240G>T (p.Val414Leu)
|
|
|
NM_001378452.1(ITPR1):c.1242G>C (p.Val414=)
|
rs2093821905
|
|
NM_001378452.1(ITPR1):c.1251+17G>T
|
|
|
NM_001378452.1(ITPR1):c.1252-18G>A
|
|
|
NM_001378452.1(ITPR1):c.1252-1G>T
|
rs1064796337
|
|
NM_001378452.1(ITPR1):c.1296A>C (p.Ile432=)
|
|
|
NM_001378452.1(ITPR1):c.1335T>C (p.Phe445=)
|
|
|
NM_001378452.1(ITPR1):c.133G>A (p.Asp45Asn)
|
|
|
NM_001378452.1(ITPR1):c.1369G>T (p.Ala457Ser)
|
|
|
NM_001378452.1(ITPR1):c.136C>G (p.Leu46Val)
|
rs1464038696
|
|
NM_001378452.1(ITPR1):c.1371T>C (p.Ala457=)
|
|
|
NM_001378452.1(ITPR1):c.1392C>T (p.Thr464=)
|
|
|
NM_001378452.1(ITPR1):c.1412+10C>G
|
|
|
NM_001378452.1(ITPR1):c.1412+11C>G
|
|
|
NM_001378452.1(ITPR1):c.1412+11_1412+12delinsTT
|
|
|
NM_001378452.1(ITPR1):c.1412+12C>T
|
|
|
NM_001378452.1(ITPR1):c.1413-15G>A
|
rs148675260
|
|
NM_001378452.1(ITPR1):c.1413-15G>C
|
|
|
NM_001378452.1(ITPR1):c.1417G>A (p.Val473Ile)
|
|
|
NM_001378452.1(ITPR1):c.1425G>T (p.Lys475Asn)
|
|
|
NM_001378452.1(ITPR1):c.1431A>G (p.Leu477=)
|
|
|
NM_001378452.1(ITPR1):c.1460G>A (p.Gly487Glu)
|
|
|
NM_001378452.1(ITPR1):c.1461A>G (p.Gly487=)
|
|
|
NM_001378452.1(ITPR1):c.1485C>G (p.Leu495=)
|
|
|
NM_001378452.1(ITPR1):c.1499C>G (p.Ser500Cys)
|
|
|
NM_001378452.1(ITPR1):c.1512A>T (p.Arg504Ser)
|
|
|
NM_001378452.1(ITPR1):c.1517G>A (p.Arg506Gln)
|
|
|
NM_001378452.1(ITPR1):c.1550A>G (p.Lys517Arg)
|
|
|
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.1589G>A (p.Cys530Tyr)
|
|
|
NM_001378452.1(ITPR1):c.1592G>C (p.Gly531Ala)
|
|
|
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=)
|
rs1297659569
|
|
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=)
|
rs886058612
|
|
NM_001378452.1(ITPR1):c.1624G>A (p.Gly542Arg)
|
|
|
NM_001378452.1(ITPR1):c.1627G>A (p.Asp543Asn)
|
|
|
NM_001378452.1(ITPR1):c.163+13C>T
|
|
|
NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr)
|
rs746128987
|
|
NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)
|
|
|
NM_001378452.1(ITPR1):c.164-13G>A
|
|
|
NM_001378452.1(ITPR1):c.164-3T>C
|
|
|
NM_001378452.1(ITPR1):c.1642C>T (p.Pro548Ser)
|
|
|
NM_001378452.1(ITPR1):c.1661G>A (p.Arg554Gln)
|
|
|
NM_001378452.1(ITPR1):c.1665C>G (p.Leu555=)
|
|
|
NM_001378452.1(ITPR1):c.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.1781C>T (p.Thr594Ile)
|
rs2125201841
|
|
NM_001378452.1(ITPR1):c.178C>G (p.Leu60Val)
|
|
|
NM_001378452.1(ITPR1):c.178C>T (p.Leu60=)
|
rs376974334
|
|
NM_001378452.1(ITPR1):c.1791C>T (p.Ala597=)
|
|
|
NM_001378452.1(ITPR1):c.1835C>T (p.Ala612Val)
|
|
|
NM_001378452.1(ITPR1):c.1867C>T (p.Arg623Ter)
|
|
|
NM_001378452.1(ITPR1):c.1875C>T (p.Asn625=)
|
|
|
NM_001378452.1(ITPR1):c.1876A>G (p.Arg626Gly)
|
rs2125201991
|
|
NM_001378452.1(ITPR1):c.1883C>G (p.Pro628Arg)
|
|
|
NM_001378452.1(ITPR1):c.1886+8G>A
|
|
|
NM_001378452.1(ITPR1):c.1887-3T>C
|
|
|
NM_001378452.1(ITPR1):c.1887-8C>G
|
|
|
NM_001378452.1(ITPR1):c.1887-8_1887-3del
|
rs766242846
|
|
NM_001378452.1(ITPR1):c.1905C>T (p.Ser635=)
|
|
|
NM_001378452.1(ITPR1):c.1915G>A (p.Val639Ile)
|
|
|
NM_001378452.1(ITPR1):c.1963G>C (p.Ala655Pro)
|
|
|
NM_001378452.1(ITPR1):c.1974C>G (p.Asn658Lys)
|
|
|
NM_001378452.1(ITPR1):c.1984G>A (p.Ala662Thr)
|
|
|
NM_001378452.1(ITPR1):c.1986T>A (p.Ala662=)
|
|
|
NM_001378452.1(ITPR1):c.1992C>A (p.Ile664=)
|
|
|
NM_001378452.1(ITPR1):c.199T>G (p.Ser67Ala)
|
|
|
NM_001378452.1(ITPR1):c.2006+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.2007-2A>G
|
|
|
NM_001378452.1(ITPR1):c.2007-7T>C
|
|
|
NM_001378452.1(ITPR1):c.2007-9G>C
|
|
|
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.2053G>A (p.Glu685Lys)
|
|
|
NM_001378452.1(ITPR1):c.20G>A (p.Ser7Asn)
|
|
|
NM_001378452.1(ITPR1):c.2109C>T (p.Asp703=)
|
|
|
NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn)
|
rs373694009
|
|
NM_001378452.1(ITPR1):c.2112C>G (p.Ser704Arg)
|
|
|
NM_001378452.1(ITPR1):c.2129G>A (p.Ser710Asn)
|
|
|
NM_001378452.1(ITPR1):c.2136T>C (p.Ser712=)
|
|
|
NM_001378452.1(ITPR1):c.2145A>G (p.Glu715=)
|
|
|
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr)
|
rs797045632
|
|
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.2260A>C (p.Asn754His)
|
|
|
NM_001378452.1(ITPR1):c.2261A>G (p.Asn754Ser)
|
|
|
NM_001378452.1(ITPR1):c.2262C>T (p.Asn754=)
|
|
|
NM_001378452.1(ITPR1):c.2313C>T (p.Asp771=)
|
|
|
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly)
|
rs997975841
|
|
NM_001378452.1(ITPR1):c.2340G>T (p.Ala780=)
|
rs748274420
|
|
NM_001378452.1(ITPR1):c.2377C>T (p.Arg793Ter)
|
rs2125214086
|
|
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.2447C>T (p.Ala816Val)
|
|
|
NM_001378452.1(ITPR1):c.2451T>A (p.Ile817=)
|
|
|
NM_001378452.1(ITPR1):c.2452G>A (p.Asp818Asn)
|
|
|
NM_001378452.1(ITPR1):c.2454C>T (p.Asp818=)
|
|
|
NM_001378452.1(ITPR1):c.2456+10G>T
|
|
|
NM_001378452.1(ITPR1):c.2456+13C>T
|
|
|
NM_001378452.1(ITPR1):c.2457-15C>A
|
|
|
NM_001378452.1(ITPR1):c.2468G>C (p.Ser823Thr)
|
|
|
NM_001378452.1(ITPR1):c.2475T>C (p.Ala825=)
|
|
|
NM_001378452.1(ITPR1):c.2487A>T (p.Glu829Asp)
|
|
|
NM_001378452.1(ITPR1):c.248C>G (p.Thr83Ser)
|
|
|
NM_001378452.1(ITPR1):c.2495A>G (p.Glu832Gly)
|
rs2125216069
|
|
NM_001378452.1(ITPR1):c.2526G>A (p.Glu842=)
|
|
|
NM_001378452.1(ITPR1):c.2531A>G (p.Tyr844Cys)
|
|
|
NM_001378452.1(ITPR1):c.2543T>C (p.Val848Ala)
|
|
|
NM_001378452.1(ITPR1):c.2591C>T (p.Thr864Met)
|
rs747510246
|
|
NM_001378452.1(ITPR1):c.2592G>A (p.Thr864=)
|
|
|
NM_001378452.1(ITPR1):c.2602G>T (p.Val868Leu)
|
|
|
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.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.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.279+4C>T
|
|
|
NM_001378452.1(ITPR1):c.279C>A (p.His93Gln)
|
|
|
NM_001378452.1(ITPR1):c.280-16T>C
|
|
|
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser)
|
rs1559671950
|
|
NM_001378452.1(ITPR1):c.282C>T (p.His94=)
|
|
|
NM_001378452.1(ITPR1):c.2859C>T (p.Pro953=)
|
|
|
NM_001378452.1(ITPR1):c.2891A>G (p.Asn964Ser)
|
|
|
NM_001378452.1(ITPR1):c.2902G>A (p.Ala968Thr)
|
|
|
NM_001378452.1(ITPR1):c.2923A>G (p.Ile975Val)
|
|
|
NM_001378452.1(ITPR1):c.2946G>A (p.Leu982=)
|
|
|
NM_001378452.1(ITPR1):c.2954T>C (p.Ile985Thr)
|
|
|
NM_001378452.1(ITPR1):c.2967+11G>C
|
|
|
NM_001378452.1(ITPR1):c.2967+16A>G
|
|
|
NM_001378452.1(ITPR1):c.2967+23del
|
|
|
NM_001378452.1(ITPR1):c.2967+5C>A
|
rs372969151
|
|
NM_001378452.1(ITPR1):c.2T>C (p.Met1Thr)
|
rs1575381029
|
|
NM_001378452.1(ITPR1):c.3009C>T (p.Leu1003=)
|
|
|
NM_001378452.1(ITPR1):c.3014G>A (p.Cys1005Tyr)
|
|
|
NM_001378452.1(ITPR1):c.306G>A (p.Gln102=)
|
|
|
NM_001378452.1(ITPR1):c.3076A>T (p.Ser1026Cys)
|
|
|
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.3107-15G>A
|
|
|
NM_001378452.1(ITPR1):c.3108T>G (p.Gly1036=)
|
|
|
NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His)
|
rs771308450
|
|
NM_001378452.1(ITPR1):c.3129T>G (p.Ile1043Met)
|
|
|
NM_001378452.1(ITPR1):c.3134A>C (p.Glu1045Ala)
|
|
|
NM_001378452.1(ITPR1):c.3138A>G (p.Gln1046=)
|
|
|
NM_001378452.1(ITPR1):c.3161+3A>G
|
|
|
NM_001378452.1(ITPR1):c.3161+7A>T
|
|
|
NM_001378452.1(ITPR1):c.3162-12G>C
|
rs752879408
|
|
NM_001378452.1(ITPR1):c.3162-15C>T
|
|
|
NM_001378452.1(ITPR1):c.3162-18C>T
|
|
|
NM_001378452.1(ITPR1):c.3163G>A (p.Glu1055Lys)
|
rs2125232528
|
|
NM_001378452.1(ITPR1):c.3171C>T (p.Asn1057=)
|
|
|
NM_001378452.1(ITPR1):c.3174C>T (p.Thr1058=)
|
|
|
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser)
|
|
|
NM_001378452.1(ITPR1):c.3181G>A (p.Asp1061Asn)
|
|
|
NM_001378452.1(ITPR1):c.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.3261_3262del (p.Ala1089fs)
|
|
|
NM_001378452.1(ITPR1):c.3270G>T (p.Leu1090=)
|
|
|
NM_001378452.1(ITPR1):c.3279C>A (p.Leu1093=)
|
|
|
NM_001378452.1(ITPR1):c.3283C>T (p.Arg1095Trp)
|
rs752791333
|
|
NM_001378452.1(ITPR1):c.3284G>A (p.Arg1095Gln)
|
rs2125232715
|
|
NM_001378452.1(ITPR1):c.3294C>T (p.Ser1098=)
|
|
|
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=)
|
rs2094337722
|
|
NM_001378452.1(ITPR1):c.3327+18C>G
|
|
|
NM_001378452.1(ITPR1):c.3327+19G>A
|
|
|
NM_001378452.1(ITPR1):c.3327+4G>T
|
|
|
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.3362A>C (p.Asn1121Thr)
|
|
|
NM_001378452.1(ITPR1):c.336G>A (p.Gly112=)
|
|
|
NM_001378452.1(ITPR1):c.3376A>C (p.Lys1126Gln)
|
|
|
NM_001378452.1(ITPR1):c.3377A>G (p.Lys1126Arg)
|
|
|
NM_001378452.1(ITPR1):c.339C>T (p.Thr113=)
|
|
|
NM_001378452.1(ITPR1):c.33T>C (p.Ile11=)
|
|
|
NM_001378452.1(ITPR1):c.340G>A (p.Val114Ile)
|
|
|
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.3497A>C (p.Glu1166Ala)
|
|
|
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.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.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.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.3647G>A (p.Arg1216Gln)
|
|
|
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.3663C>T (p.His1221=)
|
|
|
NM_001378452.1(ITPR1):c.3665C>G (p.Ala1222Gly)
|
|
|
NM_001378452.1(ITPR1):c.367-13G>T
|
|
|
NM_001378452.1(ITPR1):c.367-20T>G
|
|
|
NM_001378452.1(ITPR1):c.3702+16T>A
|
|
|
NM_001378452.1(ITPR1):c.3702+1G>A
|
rs2125235756
|
|
NM_001378452.1(ITPR1):c.3702+20C>T
|
|
|
NM_001378452.1(ITPR1):c.3702+6C>T
|
rs542846100
|
|
NM_001378452.1(ITPR1):c.3702+7G>A
|
|
|
NM_001378452.1(ITPR1):c.3703-11C>T
|
|
|
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.3705C>T (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.372G>A (p.Leu124=)
|
|
|
NM_001378452.1(ITPR1):c.3740C>A (p.Ala1247Asp)
|
|
|
NM_001378452.1(ITPR1):c.3756G>A (p.Gln1252=)
|
|
|
NM_001378452.1(ITPR1):c.3759T>C (p.Asn1253=)
|
|
|
NM_001378452.1(ITPR1):c.3795A>G (p.Leu1265=)
|
rs1417859810
|
|
NM_001378452.1(ITPR1):c.3796C>T (p.His1266Tyr)
|
|
|
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.3861C>A (p.Phe1287Leu)
|
|
|
NM_001378452.1(ITPR1):c.3871T>C (p.Phe1291Leu)
|
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
NM_001378452.1(ITPR1):c.3889A>G (p.Ile1297Val)
|
|
|
NM_001378452.1(ITPR1):c.3893A>T (p.Asn1298Ile)
|
|
|
NM_001378452.1(ITPR1):c.3900A>G (p.Arg1300=)
|
|
|
NM_001378452.1(ITPR1):c.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.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.4057G>A (p.Val1353Met)
|
|
|
NM_001378452.1(ITPR1):c.4069G>A (p.Asp1357Asn)
|
|
|
NM_001378452.1(ITPR1):c.4080T>C (p.Ser1360=)
|
|
|
NM_001378452.1(ITPR1):c.4083C>A (p.Phe1361Leu)
|
rs763239856
|
|
NM_001378452.1(ITPR1):c.4094T>A (p.Ile1365Asn)
|
|
|
NM_001378452.1(ITPR1):c.4095C>T (p.Ile1365=)
|
|
|
NM_001378452.1(ITPR1):c.4106G>C (p.Arg1369Pro)
|
|
|
NM_001378452.1(ITPR1):c.4121G>A (p.Arg1374Gln)
|
|
|
NM_001378452.1(ITPR1):c.4185G>A (p.Thr1395=)
|
|
|
NM_001378452.1(ITPR1):c.4221C>T (p.Asn1407=)
|
|
|
NM_001378452.1(ITPR1):c.4223C>T (p.Ser1408Phe)
|
|
|
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=)
|
rs555819278
|
|
NM_001378452.1(ITPR1):c.4234C>T (p.Leu1412=)
|
|
|
NM_001378452.1(ITPR1):c.4237G>C (p.Asp1413His)
|
|
|
NM_001378452.1(ITPR1):c.4243A>G (p.Ile1415Val)
|
|
|
NM_001378452.1(ITPR1):c.4245C>A (p.Ile1415=)
|
|
|
NM_001378452.1(ITPR1):c.4245C>T (p.Ile1415=)
|
|
|
NM_001378452.1(ITPR1):c.4252G>A (p.Val1418Met)
|
|
|
NM_001378452.1(ITPR1):c.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.4281+6C>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.4390C>G (p.Leu1464Val)
|
|
|
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.4408-3C>T
|
|
|
NM_001378452.1(ITPR1):c.4408-9G>A
|
|
|
NM_001378452.1(ITPR1):c.4424G>A (p.Ser1475Asn)
|
|
|
NM_001378452.1(ITPR1):c.4439C>A (p.Ala1480Glu)
|
|
|
NM_001378452.1(ITPR1):c.4439C>G (p.Ala1480Gly)
|
|
|
NM_001378452.1(ITPR1):c.4445C>T (p.Ser1482Leu)
|
|
|
NM_001378452.1(ITPR1):c.4446G>A (p.Ser1482=)
|
|
|
NM_001378452.1(ITPR1):c.4464C>T (p.Val1488=)
|
|
|
NM_001378452.1(ITPR1):c.4467C>T (p.Thr1489=)
|
|
|
NM_001378452.1(ITPR1):c.4483A>T (p.Ile1495Phe)
|
|
|
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.4527G>A (p.Thr1509=)
|
|
|
NM_001378452.1(ITPR1):c.4530T>G (p.Thr1510=)
|
|
|
NM_001378452.1(ITPR1):c.4536+17G>A
|
|
|
NM_001378452.1(ITPR1):c.4537-10C>T
|
|
|
NM_001378452.1(ITPR1):c.4537-17C>G
|
|
|
NM_001378452.1(ITPR1):c.4537-20C>A
|
|
|
NM_001378452.1(ITPR1):c.4537-20C>T
|
|
|
NM_001378452.1(ITPR1):c.4545G>A (p.Gln1515=)
|
|
|
NM_001378452.1(ITPR1):c.456C>T (p.Asp152=)
|
|
|
NM_001378452.1(ITPR1):c.4583T>C (p.Val1528Ala)
|
|
|
NM_001378452.1(ITPR1):c.4595A>G (p.Asn1532Ser)
|
|
|
NM_001378452.1(ITPR1):c.4624G>A (p.Val1542Met)
|
|
|
NM_001378452.1(ITPR1):c.4639C>T (p.Arg1547Trp)
|
|
|
NM_001378452.1(ITPR1):c.4645C>A (p.Leu1549Met)
|
|
|
NM_001378452.1(ITPR1):c.4656A>G (p.Val1552=)
|
|
|
NM_001378452.1(ITPR1):c.4657+10del
|
|
|
NM_001378452.1(ITPR1):c.4657+17G>T
|
|
|
NM_001378452.1(ITPR1):c.4657+19T>C
|
|
|
NM_001378452.1(ITPR1):c.4666C>T (p.Arg1556Trp)
|
|
|
NM_001378452.1(ITPR1):c.466A>G (p.Asn156Asp)
|
|
|
NM_001378452.1(ITPR1):c.4670C>A (p.Ala1557Asp)
|
rs949775870
|
|
NM_001378452.1(ITPR1):c.4696A>G (p.Ser1566Gly)
|
rs2125272782
|
|
NM_001378452.1(ITPR1):c.4710C>A (p.Asn1570Lys)
|
|
|
NM_001378452.1(ITPR1):c.4731C>T (p.Ser1577=)
|
rs2125272834
|
|
NM_001378452.1(ITPR1):c.4740G>T (p.Gln1580His)
|
|
|
NM_001378452.1(ITPR1):c.4759C>T (p.Arg1587Trp)
|
|
|
NM_001378452.1(ITPR1):c.4771C>T (p.Arg1591Cys)
|
|
|
NM_001378452.1(ITPR1):c.4784G>T (p.Arg1595Leu)
|
rs754960125
|
|
NM_001378452.1(ITPR1):c.4788G>A (p.Arg1596=)
|
|
|
NM_001378452.1(ITPR1):c.4791C>G (p.Asp1597Glu)
|
|
|
NM_001378452.1(ITPR1):c.4805C>A (p.Ala1602Asp)
|
|
|
NM_001378452.1(ITPR1):c.4810A>G (p.Arg1604Gly)
|
|
|
NM_001378452.1(ITPR1):c.4816T>C (p.Tyr1606His)
|
rs2125272987
|
|
NM_001378452.1(ITPR1):c.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.4855G>A (p.Ala1619Thr)
|
|
|
NM_001378452.1(ITPR1):c.4856C>T (p.Ala1619Val)
|
|
|
NM_001378452.1(ITPR1):c.4872C>T (p.Leu1624=)
|
|
|
NM_001378452.1(ITPR1):c.4906G>A (p.Val1636Met)
|
|
|
NM_001378452.1(ITPR1):c.4912G>T (p.Val1638Phe)
|
rs2125280332
|
|
NM_001378452.1(ITPR1):c.4920C>T (p.His1640=)
|
|
|
NM_001378452.1(ITPR1):c.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.4988G>T (p.Cys1663Phe)
|
rs2125280457
|
|
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.5006C>A (p.Thr1669Lys)
|
rs2125283014
|
|
NM_001378452.1(ITPR1):c.501C>T (p.Tyr167=)
|
|
|
NM_001378452.1(ITPR1):c.5023G>A (p.Glu1675Lys)
|
|
|
NM_001378452.1(ITPR1):c.5053C>G (p.Leu1685Val)
|
|
|
NM_001378452.1(ITPR1):c.5056C>T (p.Gln1686Ter)
|
|
|
NM_001378452.1(ITPR1):c.5079C>G (p.Thr1693=)
|
rs1248702584
|
|
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter)
|
rs886058579
|
|
NM_001378452.1(ITPR1):c.5103+2_5103+6del
|
rs2125283159
|
|
NM_001378452.1(ITPR1):c.5103+9T>C
|
|
|
NM_001378452.1(ITPR1):c.5221-15C>A
|
rs2125317871
|
|
NM_001378452.1(ITPR1):c.5222G>A (p.Gly1741Asp)
|
rs2125317888
|
|
NM_001378452.1(ITPR1):c.5229G>A (p.Ala1743=)
|
|
|
NM_001378452.1(ITPR1):c.525+10G>T
|
rs2125153147
|
|
NM_001378452.1(ITPR1):c.525+8C>T
|
|
|
NM_001378452.1(ITPR1):c.526-9C>T
|
|
|
NM_001378452.1(ITPR1):c.5261G>A (p.Gly1754Glu)
|
|
|
NM_001378452.1(ITPR1):c.5277G>C (p.Ser1759=)
|
rs368425885
|
|
NM_001378452.1(ITPR1):c.5279G>A (p.Gly1760Glu)
|
|
|
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln)
|
rs2291864
|
|
NM_001378452.1(ITPR1):c.5292C>T (p.Ser1764=)
|
|
|
NM_001378452.1(ITPR1):c.5303T>G (p.Phe1768Cys)
|
|
|
NM_001378452.1(ITPR1):c.5310T>C (p.Asn1770=)
|
|
|
NM_001378452.1(ITPR1):c.5312G>C (p.Gly1771Ala)
|
|
|
NM_001378452.1(ITPR1):c.5318T>C (p.Leu1773Pro)
|
|
|
NM_001378452.1(ITPR1):c.5330G>C (p.Gly1777Ala)
|
|
|
NM_001378452.1(ITPR1):c.5341C>T (p.Pro1781Ser)
|
|
|
NM_001378452.1(ITPR1):c.5342C>G (p.Pro1781Arg)
|
|
|
NM_001378452.1(ITPR1):c.5345G>A (p.Gly1782Glu)
|
rs1202441335
|
|
NM_001378452.1(ITPR1):c.5346G>C (p.Gly1782=)
|
|
|
NM_001378452.1(ITPR1):c.5348G>T (p.Gly1783Val)
|
|
|
NM_001378452.1(ITPR1):c.5353+5G>A
|
|
|
NM_001378452.1(ITPR1):c.5354-10A>G
|
|
|
NM_001378452.1(ITPR1):c.5354-10A>T
|
|
|
NM_001378452.1(ITPR1):c.5354-19C>A
|
|
|
NM_001378452.1(ITPR1):c.5354-7T>A
|
|
|
NM_001378452.1(ITPR1):c.5354-8C>A
|
rs754119985
|
|
NM_001378452.1(ITPR1):c.5354-8C>G
|
|
|
NM_001378452.1(ITPR1):c.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.5382C>T (p.Ser1794=)
|
|
|
NM_001378452.1(ITPR1):c.5396G>A (p.Ser1799Asn)
|
|
|
NM_001378452.1(ITPR1):c.5419C>T (p.Leu1807Phe)
|
rs2125321242
|
|
NM_001378452.1(ITPR1):c.5451C>T (p.Ile1817=)
|
|
|
NM_001378452.1(ITPR1):c.5452G>A (p.Asp1818Asn)
|
|
|
NM_001378452.1(ITPR1):c.5460C>T (p.Ile1820=)
|
|
|
NM_001378452.1(ITPR1):c.5466C>A (p.Asn1822Lys)
|
|
|
NM_001378452.1(ITPR1):c.5467G>A (p.Ala1823Thr)
|
|
|
NM_001378452.1(ITPR1):c.5469A>C (p.Ala1823=)
|
|
|
NM_001378452.1(ITPR1):c.5473A>T (p.Ser1825Cys)
|
|
|
NM_001378452.1(ITPR1):c.54C>T (p.Tyr18=)
|
|
|
NM_001378452.1(ITPR1):c.5544+16G>A
|
|
|
NM_001378452.1(ITPR1):c.5545-18A>G
|
|
|
NM_001378452.1(ITPR1):c.5556C>T (p.Phe1852=)
|
|
|
NM_001378452.1(ITPR1):c.5563T>C (p.Leu1855=)
|
|
|
NM_001378452.1(ITPR1):c.5573A>C (p.Asp1858Ala)
|
|
|
NM_001378452.1(ITPR1):c.5576A>C (p.Lys1859Thr)
|
|
|
NM_001378452.1(ITPR1):c.5577G>A (p.Lys1859=)
|
|
|
NM_001378452.1(ITPR1):c.5598G>A (p.Lys1866=)
|
|
|
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.5649G>A (p.Val1883=)
|
|
|
NM_001378452.1(ITPR1):c.564T>C (p.Asn188=)
|
|
|
NM_001378452.1(ITPR1):c.5678A>G (p.Lys1893Arg)
|
rs577442813
|
|
NM_001378452.1(ITPR1):c.5688C>T (p.Asp1896=)
|
|
|
NM_001378452.1(ITPR1):c.5700C>G (p.Asp1900Glu)
|
|
|
NM_001378452.1(ITPR1):c.5709C>A (p.Ala1903=)
|
rs776704462
|
|
NM_001378452.1(ITPR1):c.5715A>G (p.Ser1905=)
|
|
|
NM_001378452.1(ITPR1):c.5716C>T (p.Arg1906Trp)
|
|
|
NM_001378452.1(ITPR1):c.5717G>A (p.Arg1906Gln)
|
|
|
NM_001378452.1(ITPR1):c.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.5733G>A (p.Glu1911=)
|
|
|
NM_001378452.1(ITPR1):c.5735C>T (p.Pro1912Leu)
|
|
|
NM_001378452.1(ITPR1):c.5794_5802del (p.Arg1932_Ala1934del)
|
|
|
NM_001378452.1(ITPR1):c.5799A>G (p.Lys1933=)
|
|
|
NM_001378452.1(ITPR1):c.5802C>T (p.Ala1934=)
|
|
|
NM_001378452.1(ITPR1):c.5825C>T (p.Ala1942Val)
|
|
|
NM_001378452.1(ITPR1):c.5832C>T (p.Pro1944=)
|
|
|
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.5865G>A (p.Gln1955=)
|
|
|
NM_001378452.1(ITPR1):c.5866G>A (p.Ala1956Thr)
|
|
|
NM_001378452.1(ITPR1):c.5872G>A (p.Ala1958Thr)
|
|
|
NM_001378452.1(ITPR1):c.5874C>T (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.5907G>A (p.Ala1969=)
|
|
|
NM_001378452.1(ITPR1):c.590G>A (p.Ser197Asn)
|
|
|
NM_001378452.1(ITPR1):c.5910C>T (p.Val1970=)
|
rs753430331
|
|
NM_001378452.1(ITPR1):c.5915C>A (p.Thr1972Asn)
|
|
|
NM_001378452.1(ITPR1):c.5928C>T (p.Pro1976=)
|
|
|
NM_001378452.1(ITPR1):c.5931C>A (p.Ile1977=)
|
|
|
NM_001378452.1(ITPR1):c.5936G>A (p.Arg1979His)
|
|
|
NM_001378452.1(ITPR1):c.5969G>A (p.Arg1990Gln)
|
|
|
NM_001378452.1(ITPR1):c.5972A>G (p.Asp1991Gly)
|
rs781495978
|
|
NM_001378452.1(ITPR1):c.6015C>T (p.Tyr2005=)
|
|
|
NM_001378452.1(ITPR1):c.6019T>C (p.Leu2007=)
|
|
|
NM_001378452.1(ITPR1):c.6024A>G (p.Val2008=)
|
|
|
NM_001378452.1(ITPR1):c.603A>G (p.Val201=)
|
|
|
NM_001378452.1(ITPR1):c.6072A>T (p.Gly2024=)
|
|
|
NM_001378452.1(ITPR1):c.610C>A (p.Pro204Thr)
|
|
|
NM_001378452.1(ITPR1):c.6111= (p.Asn2037=)
|
|
|
NM_001378452.1(ITPR1):c.6180+19T>C
|
|
|
NM_001378452.1(ITPR1):c.6180+6T>G
|
|
|
NM_001378452.1(ITPR1):c.6211A>G (p.Ile2071Val)
|
|
|
NM_001378452.1(ITPR1):c.6229C>T (p.Leu2077=)
|
|
|
NM_001378452.1(ITPR1):c.6239A>G (p.Asn2080Ser)
|
|
|
NM_001378452.1(ITPR1):c.625-15G>A
|
|
|
NM_001378452.1(ITPR1):c.625-16C>G
|
rs536653326
|
|
NM_001378452.1(ITPR1):c.6274C>T (p.Leu2092Phe)
|
rs2125389919
|
|
NM_001378452.1(ITPR1):c.6291+9G>A
|
rs1385142016
|
|
NM_001378452.1(ITPR1):c.6292-5A>G
|
|
|
NM_001378452.1(ITPR1):c.6303G>A (p.Ser2101=)
|
|
|
NM_001378452.1(ITPR1):c.6312C>T (p.Leu2104=)
|
|
|
NM_001378452.1(ITPR1):c.6336C>T (p.His2112=)
|
|
|
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
|
|
|
NM_001378452.1(ITPR1):c.633C>T (p.Ser211=)
|
|
|
NM_001378452.1(ITPR1):c.6357G>C (p.Arg2119Ser)
|
|
|
NM_001378452.1(ITPR1):c.6365A>T (p.Tyr2122Phe)
|
|
|
NM_001378452.1(ITPR1):c.636C>T (p.Val212=)
|
|
|
NM_001378452.1(ITPR1):c.6370A>G (p.Met2124Val)
|
|
|
NM_001378452.1(ITPR1):c.6371T>C (p.Met2124Thr)
|
|
|
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val)
|
rs2046693194
|
|
NM_001378452.1(ITPR1):c.6387+14C>T
|
|
|
NM_001378452.1(ITPR1):c.6387+7C>T
|
|
|
NM_001378452.1(ITPR1):c.6388-13G>A
|
|
|
NM_001378452.1(ITPR1):c.6388-14G>C
|
|
|
NM_001378452.1(ITPR1):c.6388-15T>G
|
|
|
NM_001378452.1(ITPR1):c.6388-17C>G
|
|
|
NM_001378452.1(ITPR1):c.6408C>G (p.Ala2136=)
|
|
|
NM_001378452.1(ITPR1):c.6427G>A (p.Glu2143Lys)
|
|
|
NM_001378452.1(ITPR1):c.6456T>G (p.Asp2152Glu)
|
|
|
NM_001378452.1(ITPR1):c.6461C>T (p.Ala2154Val)
|
|
|
NM_001378452.1(ITPR1):c.6462G>A (p.Ala2154=)
|
|
|
NM_001378452.1(ITPR1):c.6463G>A (p.Ala2155Thr)
|
|
|
NM_001378452.1(ITPR1):c.6464C>T (p.Ala2155Val)
|
rs2125397931
|
|
NM_001378452.1(ITPR1):c.6465G>A (p.Ala2155=)
|
|
|
NM_001378452.1(ITPR1):c.6467C>T (p.Ser2156Phe)
|
|
|
NM_001378452.1(ITPR1):c.647C>T (p.Thr216Ile)
|
|
|
NM_001378452.1(ITPR1):c.6489C>T (p.Asn2163=)
|
|
|
NM_001378452.1(ITPR1):c.6491T>A (p.Ile2164Asn)
|
|
|
NM_001378452.1(ITPR1):c.6510+20T>G
|
|
|
NM_001378452.1(ITPR1):c.6511-4C>G
|
|
|
NM_001378452.1(ITPR1):c.6534T>A (p.Leu2178=)
|
|
|
NM_001378452.1(ITPR1):c.6538A>G (p.Ser2180Gly)
|
|
|
NM_001378452.1(ITPR1):c.6567C>T (p.Asp2189=)
|
|
|
NM_001378452.1(ITPR1):c.6568G>A (p.Gly2190Arg)
|
|
|
NM_001378452.1(ITPR1):c.6572A>G (p.Asp2191Gly)
|
|
|
NM_001378452.1(ITPR1):c.6572A>T (p.Asp2191Val)
|
|
|
NM_001378452.1(ITPR1):c.6605C>T (p.Ala2202Val)
|
|
|
NM_001378452.1(ITPR1):c.6606G>A (p.Ala2202=)
|
|
|
NM_001378452.1(ITPR1):c.6616-11T>C
|
|
|
NM_001378452.1(ITPR1):c.6616-17C>T
|
|
|
NM_001378452.1(ITPR1):c.6735C>A (p.Gly2245=)
|
|
|
NM_001378452.1(ITPR1):c.6741A>G (p.Lys2247=)
|
|
|
NM_001378452.1(ITPR1):c.6771C>G (p.Asp2257Glu)
|
rs748551485
|
|
NM_001378452.1(ITPR1):c.6771C>T (p.Asp2257=)
|
|
|
NM_001378452.1(ITPR1):c.6808+12C>T
|
|
|
NM_001378452.1(ITPR1):c.6808+17C>T
|
|
|
NM_001378452.1(ITPR1):c.6809-15C>T
|
rs774439941
|
|
NM_001378452.1(ITPR1):c.6812A>G (p.Gln2271Arg)
|
rs1246508094
|
|
NM_001378452.1(ITPR1):c.6816C>T (p.Pro2272=)
|
|
|
NM_001378452.1(ITPR1):c.6831T>C (p.Cys2277=)
|
|
|
NM_001378452.1(ITPR1):c.6841A>G (p.Met2281Val)
|
|
|
NM_001378452.1(ITPR1):c.6858C>T (p.Ser2286=)
|
|
|
NM_001378452.1(ITPR1):c.6900G>A (p.Ala2300=)
|
|
|
NM_001378452.1(ITPR1):c.6918G>C (p.Lys2306Asn)
|
|
|
NM_001378452.1(ITPR1):c.6924C>T (p.Val2308=)
|
|
|
NM_001378452.1(ITPR1):c.6926G>A (p.Arg2309Gln)
|
|
|
NM_001378452.1(ITPR1):c.6931+6C>T
|
|
|
NM_001378452.1(ITPR1):c.6932-17C>G
|
|
|
NM_001378452.1(ITPR1):c.6936C>A (p.Thr2312=)
|
|
|
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>T (p.Met2325Leu)
|
|
|
NM_001378452.1(ITPR1):c.6984T>C (p.Ser2328=)
|
|
|
NM_001378452.1(ITPR1):c.6994G>T (p.Val2332Phe)
|
|
|
NM_001378452.1(ITPR1):c.7002C>T (p.Ala2334=)
|
|
|
NM_001378452.1(ITPR1):c.7005C>T (p.Leu2335=)
|
rs2125423325
|
|
NM_001378452.1(ITPR1):c.7013C>T (p.Pro2338Leu)
|
|
|
NM_001378452.1(ITPR1):c.7023C>T (p.Ile2341=)
|
|
|
NM_001378452.1(ITPR1):c.7024C>T (p.Arg2342Trp)
|
|
|
NM_001378452.1(ITPR1):c.7025G>A (p.Arg2342Gln)
|
|
|
NM_001378452.1(ITPR1):c.7027G>A (p.Ala2343Thr)
|
|
|
NM_001378452.1(ITPR1):c.7029C>T (p.Ala2343=)
|
|
|
NM_001378452.1(ITPR1):c.7042A>G (p.Thr2348Ala)
|
rs753499808
|
|
NM_001378452.1(ITPR1):c.7050A>G (p.Leu2350=)
|
|
|
NM_001378452.1(ITPR1):c.7052G>A (p.Arg2351Gln)
|
|
|
NM_001378452.1(ITPR1):c.7066G>A (p.Val2356Ile)
|
|
|
NM_001378452.1(ITPR1):c.7069G>A (p.Gly2357Arg)
|
|
|
NM_001378452.1(ITPR1):c.7073T>G (p.Leu2358Ter)
|
|
|
NM_001378452.1(ITPR1):c.708+15T>A
|
|
|
NM_001378452.1(ITPR1):c.708+18T>C
|
|
|
NM_001378452.1(ITPR1):c.708+18T>G
|
|
|
NM_001378452.1(ITPR1):c.708+20G>A
|
|
|
NM_001378452.1(ITPR1):c.7080C>T (p.Pro2360=)
|
|
|
NM_001378452.1(ITPR1):c.7083G>A (p.Thr2361=)
|
|
|
NM_001378452.1(ITPR1):c.7107+15C>A
|
|
|
NM_001378452.1(ITPR1):c.7108-16del
|
|
|
NM_001378452.1(ITPR1):c.7108-20G>A
|
|
|
NM_001378452.1(ITPR1):c.7108-3C>T
|
|
|
NM_001378452.1(ITPR1):c.714C>T (p.Asp238=)
|
|
|
NM_001378452.1(ITPR1):c.7191T>C (p.Asp2397=)
|
|
|
NM_001378452.1(ITPR1):c.7200C>T (p.Phe2400=)
|
|
|
NM_001378452.1(ITPR1):c.7222G>C (p.Val2408Leu)
|
|
|
NM_001378452.1(ITPR1):c.7226T>A (p.Ile2409Asn)
|
|
|
NM_001378452.1(ITPR1):c.7269G>T (p.Leu2423=)
|
|
|
NM_001378452.1(ITPR1):c.7272+10T>G
|
|
|
NM_001378452.1(ITPR1):c.7272+12G>C
|
|
|
NM_001378452.1(ITPR1):c.7272+14G>A
|
|
|
NM_001378452.1(ITPR1):c.7273-10_7273-7del
|
|
|
NM_001378452.1(ITPR1):c.7273-15del
|
|
|
NM_001378452.1(ITPR1):c.7297G>A (p.Glu2433Lys)
|
|
|
NM_001378452.1(ITPR1):c.7320A>G (p.Lys2440=)
|
|
|
NM_001378452.1(ITPR1):c.7322G>A (p.Ser2441Asn)
|
|
|
NM_001378452.1(ITPR1):c.7331G>T (p.Arg2444Leu)
|
|
|
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.7443G>A (p.Arg2481=)
|
|
|
NM_001378452.1(ITPR1):c.7457C>T (p.Thr2486Ile)
|
|
|
NM_001378452.1(ITPR1):c.7465C>T (p.Pro2489Ser)
|
|
|
NM_001378452.1(ITPR1):c.7468+14C>G
|
|
|
NM_001378452.1(ITPR1):c.7470A>G (p.Glu2490=)
|
|
|
NM_001378452.1(ITPR1):c.7473C>G (p.Thr2491=)
|
|
|
NM_001378452.1(ITPR1):c.7473C>T (p.Thr2491=)
|
|
|
NM_001378452.1(ITPR1):c.7475G>A (p.Gly2492Asp)
|
|
|
NM_001378452.1(ITPR1):c.7476C>A (p.Gly2492=)
|
|
|
NM_001378452.1(ITPR1):c.7492G>A (p.Glu2498Lys)
|
|
|
NM_001378452.1(ITPR1):c.7500G>C (p.Leu2500=)
|
|
|
NM_001378452.1(ITPR1):c.7543T>G (p.Ser2515Ala)
|
|
|
NM_001378452.1(ITPR1):c.7544C>T (p.Ser2515Phe)
|
|
|
NM_001378452.1(ITPR1):c.7555A>G (p.Arg2519Gly)
|
|
|
NM_001378452.1(ITPR1):c.7561+15C>A
|
|
|
NM_001378452.1(ITPR1):c.762C>T (p.Asp254=)
|
|
|
NM_001378452.1(ITPR1):c.778C>A (p.Gln260Lys)
|
|
|
NM_001378452.1(ITPR1):c.7868-13G>A
|
|
|
NM_001378452.1(ITPR1):c.7868-20G>A
|
|
|
NM_001378452.1(ITPR1):c.7899del (p.Val2634fs)
|
|
|
NM_001378452.1(ITPR1):c.7953C>T (p.Cys2651=)
|
rs774135923
|
|
NM_001378452.1(ITPR1):c.7960G>A (p.Val2654Ile)
|
|
|
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.800C>T (p.Thr267Met)
|
rs797044955
|
|
NM_001378452.1(ITPR1):c.8028+17C>G
|
|
|
NM_001378452.1(ITPR1):c.8028+20G>A
|
|
|
NM_001378452.1(ITPR1):c.8028+6T>A
|
|
|
NM_001378452.1(ITPR1):c.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.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.8070A>G (p.Ser2690=)
|
rs764602780
|
|
NM_001378452.1(ITPR1):c.8078G>A (p.Ser2693Asn)
|
|
|
NM_001378452.1(ITPR1):c.807G>A (p.Arg269=)
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NM_001378452.1(ITPR1):c.8082T>C (p.Ser2694=)
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NM_001378452.1(ITPR1):c.8121G>A (p.Gln2707=)
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NM_001378452.1(ITPR1):c.8141T>C (p.Met2714Thr)
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NM_001378452.1(ITPR1):c.8153C>G (p.Thr2718Arg)
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NM_001378452.1(ITPR1):c.8190+13_8190+14del
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rs552585900
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NM_001378452.1(ITPR1):c.8190+16C>G
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NM_001378452.1(ITPR1):c.8190+17C>T
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NM_001378452.1(ITPR1):c.8191-14T>G
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NM_001378452.1(ITPR1):c.8191-20G>A
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NM_001378452.1(ITPR1):c.8222T>C (p.Ile2741Thr)
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NM_001378452.1(ITPR1):c.8236C>T (p.His2746Tyr)
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NM_001378452.1(ITPR1):c.8239C>T (p.Pro2747Ser)
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NM_001378452.1(ITPR1):c.8247_8251del (p.His2749fs)
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NM_001378452.1(ITPR1):c.8263C>A (p.Gln2755Lys)
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NM_001378452.1(ITPR1):c.8269C>A (p.Pro2757Thr)
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rs1314021980
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NM_001378452.1(ITPR1):c.8269C>G (p.Pro2757Ala)
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NM_001378452.1(ITPR1):c.8274A>G (p.Ala2758=)
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NM_001378452.1(ITPR1):c.8276A>G (p.Ter2759=)
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NM_001378452.1(ITPR1):c.831T>C (p.Ser277=)
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NM_001378452.1(ITPR1):c.855+6G>A
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NM_001378452.1(ITPR1):c.855+7G>T
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rs2125159889
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NM_001378452.1(ITPR1):c.878G>A (p.Arg293Gln)
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NM_001378452.1(ITPR1):c.887C>A (p.Ala296Glu)
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NM_001378452.1(ITPR1):c.887C>G (p.Ala296Gly)
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rs746760261
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NM_001378452.1(ITPR1):c.906T>C (p.Leu302=)
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NM_001378452.1(ITPR1):c.911G>A (p.Arg304His)
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NM_001378452.1(ITPR1):c.93-18T>C
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NM_001378452.1(ITPR1):c.933G>A (p.Gly311=)
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NM_001378452.1(ITPR1):c.93C>T (p.Gly31=)
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NM_001378452.1(ITPR1):c.951+11G>A
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NM_001378452.1(ITPR1):c.951+20G>A
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NM_001378452.1(ITPR1):c.951+6_951+8del
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rs2093612036
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NM_001378452.1(ITPR1):c.951+9C>A
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rs908832824
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NM_001378452.1(ITPR1):c.997-15A>G
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