ClinVar Miner

List of variants in gene ITPR1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1025
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HGVS dbSNP gnomAD frequency
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=)
NM_001378452.1(ITPR1):c.8082T>C (p.Ser2694=)
NM_001378452.1(ITPR1):c.8121G>A (p.Gln2707=)
NM_001378452.1(ITPR1):c.8141T>C (p.Met2714Thr)
NM_001378452.1(ITPR1):c.8153C>G (p.Thr2718Arg)
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_001378452.1(ITPR1):c.8190+16C>G
NM_001378452.1(ITPR1):c.8190+17C>T
NM_001378452.1(ITPR1):c.8191-14T>G
NM_001378452.1(ITPR1):c.8191-20G>A
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.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.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.887C>A (p.Ala296Glu)
NM_001378452.1(ITPR1):c.887C>G (p.Ala296Gly) rs746760261
NM_001378452.1(ITPR1):c.906T>C (p.Leu302=)
NM_001378452.1(ITPR1):c.911G>A (p.Arg304His)
NM_001378452.1(ITPR1):c.93-18T>C
NM_001378452.1(ITPR1):c.933G>A (p.Gly311=)
NM_001378452.1(ITPR1):c.93C>T (p.Gly31=)
NM_001378452.1(ITPR1):c.951+11G>A
NM_001378452.1(ITPR1):c.951+20G>A
NM_001378452.1(ITPR1):c.951+6_951+8del rs2093612036
NM_001378452.1(ITPR1):c.951+9C>A rs908832824
NM_001378452.1(ITPR1):c.997-15A>G

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