ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 756
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.*1170C>A rs202059633 0.02047
NM_001378452.1(ITPR1):c.*1185C>A rs867347513 0.01135
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001378452.1(ITPR1):c.5163C>A (p.Asn1721Lys) rs201937660 0.00060
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.*942G>T rs41308218 0.00044
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_002222.6(ITPR1):c.*1347G>T rs547675218 0.00036
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001378452.1(ITPR1):c.*279A>G rs886058645 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn) rs371186107 0.00026
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val) rs188477537 0.00023
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg) rs373359869 0.00023
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.4843-7G>A rs184969640 0.00016
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.*580T>G rs1266500433 0.00009
NM_001378452.1(ITPR1):c.8277A>G (p.Ter2759=) rs376816678 0.00009
NM_001378452.1(ITPR1):c.4246G>A (p.Val1416Ile) rs373436949 0.00008
NM_001378452.1(ITPR1):c.*243G>A rs963189027 0.00007
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser) rs369108656 0.00007
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile) rs370701686 0.00006
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) rs373515668 0.00006
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.4572C>T (p.Gly1524=) rs200605212 0.00006
NM_001378452.1(ITPR1):c.5397T>G (p.Ser1799Arg) rs376278816 0.00006
NM_001378452.1(ITPR1):c.5905G>A (p.Ala1969Thr) rs369005032 0.00006
NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser) rs187571979 0.00006
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.3893A>G (p.Asn1298Ser) rs757563485 0.00005
NM_001378452.1(ITPR1):c.4409C>T (p.Ala1470Val) rs556452894 0.00005
NM_001378452.1(ITPR1):c.4783C>T (p.Arg1595Cys) rs373619512 0.00005
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser) rs200927261 0.00005
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) rs35343277 0.00005
NM_001378452.1(ITPR1):c.1554+3C>T rs781141738 0.00004
NM_001378452.1(ITPR1):c.1554+6T>G rs371214686 0.00004
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn) rs185464679 0.00004
NM_001378452.1(ITPR1):c.2204+4C>T rs374620253 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001378452.1(ITPR1):c.3564+5G>T rs371420259 0.00004
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr) rs768179678 0.00004
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=) rs542486327 0.00004
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser) rs760608076 0.00004
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.5800G>A (p.Ala1934Thr) rs373554736 0.00004
NM_001378452.1(ITPR1):c.6440G>C (p.Gly2147Ala) rs371303646 0.00004
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser) rs199890939 0.00004
NM_001378452.1(ITPR1):c.709-6T>C rs374932152 0.00004
NM_001378452.1(ITPR1):c.7528G>A (p.Gly2510Arg) rs868822649 0.00004
NM_001378452.1(ITPR1):c.929C>T (p.Thr310Met) rs201693219 0.00004
NM_001378452.1(ITPR1):c.1016C>A (p.Ala339Asp) rs755837192 0.00003
NM_001378452.1(ITPR1):c.279C>T (p.His93=) rs371299264 0.00003
NM_001378452.1(ITPR1):c.337A>G (p.Thr113Ala) rs745891343 0.00003
NM_001378452.1(ITPR1):c.3442G>A (p.Gly1148Ser) rs542241167 0.00003
NM_001378452.1(ITPR1):c.3498+6T>C rs753276679 0.00003
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=) rs373572745 0.00003
NM_001378452.1(ITPR1):c.4407+7C>T rs886042210 0.00003
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=) rs886058616 0.00003
NM_001378452.1(ITPR1):c.5228C>T (p.Ala1743Val) rs747201343 0.00003
NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr) rs949938763 0.00003
NM_001378452.1(ITPR1):c.5762G>A (p.Arg1921Gln) rs375223667 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378452.1(ITPR1):c.7272+15T>A rs777868994 0.00003
NM_001378452.1(ITPR1):c.7559A>G (p.Glu2520Gly) rs369183965 0.00003
NM_001378452.1(ITPR1):c.1492G>T (p.Val498Phe) rs756745652 0.00002
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=) rs886058613 0.00002
NM_001378452.1(ITPR1):c.1714-12C>T rs765853714 0.00002
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=) rs748274420 0.00002
NM_001378452.1(ITPR1):c.2586G>C (p.Lys862Asn) rs780454319 0.00002
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala) rs773251870 0.00002
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val) rs773701050 0.00002
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=) rs886058618 0.00002
NM_001378452.1(ITPR1):c.5332C>A (p.Pro1778Thr) rs775018692 0.00002
NM_001378452.1(ITPR1):c.5336G>T (p.Gly1779Val) rs749571656 0.00002
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=) rs765524918 0.00002
NM_001378452.1(ITPR1):c.5737A>C (p.Thr1913Pro) rs71313897 0.00002
NM_001378452.1(ITPR1):c.5746A>G (p.Ile1916Val) rs1479960762 0.00002
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) rs748401794 0.00002
NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile) rs774735244 0.00002
NM_001378452.1(ITPR1):c.6561A>T (p.Gln2187His) rs1369061682 0.00002
NM_001378452.1(ITPR1):c.6701G>A (p.Arg2234Gln) rs761779906 0.00002
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) rs201934670 0.00002
NM_002222.6(ITPR1):c.*1311G>A rs772889585 0.00002
NM_001378452.1(ITPR1):c.*1061T>G rs886058652 0.00001
NM_001378452.1(ITPR1):c.*740T>C rs886058650 0.00001
NM_001378452.1(ITPR1):c.*816C>T rs775011992 0.00001
NM_001378452.1(ITPR1):c.-342C>T rs886058522 0.00001
NM_001378452.1(ITPR1):c.-63C>T rs889404498 0.00001
NM_001378452.1(ITPR1):c.1022G>A (p.Arg341Gln) rs373174492 0.00001
NM_001378452.1(ITPR1):c.1051A>T (p.Met351Leu) rs759008439 0.00001
NM_001378452.1(ITPR1):c.1152-6T>C rs752886993 0.00001
NM_001378452.1(ITPR1):c.1240G>A (p.Val414Met) rs1462970629 0.00001
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=) rs760762106 0.00001
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser) rs561470737 0.00001
NM_001378452.1(ITPR1):c.1441G>A (p.Val481Ile) rs1297896832 0.00001
NM_001378452.1(ITPR1):c.1454C>G (p.Thr485Ser) rs1465080574 0.00001
NM_001378452.1(ITPR1):c.1554+4G>A rs117503975 0.00001
NM_001378452.1(ITPR1):c.1555-3C>A rs2093919137 0.00001
NM_001378452.1(ITPR1):c.1610G>A (p.Arg537Gln) rs749386587 0.00001
NM_001378452.1(ITPR1):c.2006+13C>A rs1181863539 0.00001
NM_001378452.1(ITPR1):c.2125C>T (p.Arg709Cys) rs1169304800 0.00001
NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val) rs779996062 0.00001
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=) rs779948053 0.00001
NM_001378452.1(ITPR1):c.2446G>A (p.Ala816Thr) rs778051422 0.00001
NM_001378452.1(ITPR1):c.2456+6C>T rs779086270 0.00001
NM_001378452.1(ITPR1):c.2780-8T>C rs558804336 0.00001
NM_001378452.1(ITPR1):c.2809G>A (p.Val937Met) rs751172849 0.00001
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=) rs764301997 0.00001
NM_001378452.1(ITPR1):c.2888G>A (p.Gly963Asp) rs777204180 0.00001
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) rs370220353 0.00001
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met) rs776228202 0.00001
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.3162-9C>T rs1159582623 0.00001
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser) rs776099053 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378452.1(ITPR1):c.3215G>A (p.Arg1072His) rs2094336496 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe) rs1278034455 0.00001
NM_001378452.1(ITPR1):c.3327+10G>T rs757492529 0.00001
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=) rs764767201 0.00001
NM_001378452.1(ITPR1):c.3564+9C>T rs564799796 0.00001
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=) rs540908870 0.00001
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) rs773030719 0.00001
NM_001378452.1(ITPR1):c.3916G>A (p.Val1306Ile) rs187604016 0.00001
NM_001378452.1(ITPR1):c.4015A>G (p.Met1339Val) rs372380638 0.00001
NM_001378452.1(ITPR1):c.4051G>A (p.Val1351Ile) rs1553697090 0.00001
NM_001378452.1(ITPR1):c.4114C>T (p.Arg1372Trp) rs777018717 0.00001
NM_001378452.1(ITPR1):c.4250G>A (p.Arg1417His) rs766019080 0.00001
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr) rs1392354334 0.00001
NM_001378452.1(ITPR1):c.4483A>G (p.Ile1495Val) rs769648295 0.00001
NM_001378452.1(ITPR1):c.4640G>A (p.Arg1547Gln) rs1250105592 0.00001
NM_001378452.1(ITPR1):c.4658-3C>T rs779986666 0.00001
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=) rs886058578 0.00001
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=) rs2094755597 0.00001
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=) rs1396361560 0.00001
NM_001378452.1(ITPR1):c.525C>T (p.Ser175=) rs539657017 0.00001
NM_001378452.1(ITPR1):c.5266G>A (p.Val1756Ile) rs763787819 0.00001
NM_001378452.1(ITPR1):c.5301C>A (p.Ser1767Arg) rs758372914 0.00001
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg) rs886058619 0.00001
NM_001378452.1(ITPR1):c.5354G>T (p.Gly1785Val) rs200004069 0.00001
NM_001378452.1(ITPR1):c.5413T>A (p.Cys1805Ser) rs1377176027 0.00001
NM_001378452.1(ITPR1):c.5689G>A (p.Asp1897Asn) rs370615766 0.00001
NM_001378452.1(ITPR1):c.5789C>A (p.Ala1930Asp) rs535969136 0.00001
NM_001378452.1(ITPR1):c.5867C>T (p.Ala1956Val) rs769041115 0.00001
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=) rs754434409 0.00001
NM_001378452.1(ITPR1):c.6779A>G (p.Asn2260Ser) rs745310231 0.00001
NM_001378452.1(ITPR1):c.678G>T (p.Trp226Cys) rs1329469853 0.00001
NM_001378452.1(ITPR1):c.6808+4G>A rs746724784 0.00001
NM_001378452.1(ITPR1):c.6838A>C (p.Asn2280His) rs368097378 0.00001
NM_001378452.1(ITPR1):c.6992T>C (p.Ile2331Thr) rs570295932 0.00001
NM_001378452.1(ITPR1):c.7021A>G (p.Ile2341Val) rs773512133 0.00001
NM_001378452.1(ITPR1):c.7123A>G (p.Ile2375Val) rs777957075 0.00001
NM_001378452.1(ITPR1):c.7180A>G (p.Met2394Val) rs905034632 0.00001
NM_001378452.1(ITPR1):c.7250A>G (p.His2417Arg) rs1250950938 0.00001
NM_001378452.1(ITPR1):c.7484_7516del (p.Leu2495_Arg2506delinsTrp) rs1264194781 0.00001
NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln) rs760588490 0.00001
NM_001378452.1(ITPR1):c.8161T>C (p.Ser2721Pro) rs1394842658 0.00001
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=) rs886058580 0.00001
NM_001378452.1(ITPR1):c.8258A>G (p.Asn2753Ser) rs762416053 0.00001
NM_002222.6(ITPR1):c.*1481delG rs886058656 0.00001
NM_001378452.1(ITPR1):c.*1076TTCTT[1] rs886058653
NM_001378452.1(ITPR1):c.*1169_*1170insAA rs752544427
NM_001378452.1(ITPR1):c.*1169_*1170insAAA rs752544427
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1] rs1553771554
NM_001378452.1(ITPR1):c.*1183_*1184dup rs3079679
NM_001378452.1(ITPR1):c.*1184del rs3079679
NM_001378452.1(ITPR1):c.*1266G>A rs886058655
NM_001378452.1(ITPR1):c.*13A>T rs886058644
NM_001378452.1(ITPR1):c.*312G>A rs886058646
NM_001378452.1(ITPR1):c.*472T>G rs2051804981
NM_001378452.1(ITPR1):c.*539_*540dup rs886058648
NM_001378452.1(ITPR1):c.*549G>T rs781519977
NM_001378452.1(ITPR1):c.*592T>G rs2051813316
NM_001378452.1(ITPR1):c.*668T>C rs886058649
NM_001378452.1(ITPR1):c.*7G>T
NM_001378452.1(ITPR1):c.*879T>C rs1428879075
NM_001378452.1(ITPR1):c.*970C>A rs2051846001
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.1002C>A (p.Asp334Glu)
NM_001378452.1(ITPR1):c.1015G>A (p.Ala339Thr)
NM_001378452.1(ITPR1):c.101A>G (p.Asp34Gly)
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys) rs779003637
NM_001378452.1(ITPR1):c.1033C>A (p.Arg345=) rs369055445
NM_001378452.1(ITPR1):c.1033C>T (p.Arg345Trp) rs369055445
NM_001378452.1(ITPR1):c.1043A>G (p.Gln348Arg)
NM_001378452.1(ITPR1):c.1052T>C (p.Met351Thr)
NM_001378452.1(ITPR1):c.1066G>A (p.Val356Ile)
NM_001378452.1(ITPR1):c.1067T>G (p.Val356Gly)
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001378452.1(ITPR1):c.1084A>G (p.Asn362Asp) rs2093756579
NM_001378452.1(ITPR1):c.1085A>G (p.Asn362Ser)
NM_001378452.1(ITPR1):c.1092C>G (p.Ile364Met)
NM_001378452.1(ITPR1):c.1093T>G (p.Ser365Ala) rs2093756773
NM_001378452.1(ITPR1):c.1093TCC[1] (p.Ser366del)
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro) rs1260045423
NM_001378452.1(ITPR1):c.1127G>T (p.Arg376Leu)
NM_001378452.1(ITPR1):c.1132G>A (p.Gly378Ser)
NM_001378452.1(ITPR1):c.1152G>A (p.Arg384=)
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln) rs2093820776
NM_001378452.1(ITPR1):c.1186A>G (p.Asn396Asp)
NM_001378452.1(ITPR1):c.1213C>G (p.Pro405Ala)
NM_001378452.1(ITPR1):c.1213C>T (p.Pro405Ser)
NM_001378452.1(ITPR1):c.1240G>T (p.Val414Leu)
NM_001378452.1(ITPR1):c.1252-10T>A rs2125191741
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile) rs2093848251
NM_001378452.1(ITPR1):c.1297G>T (p.Val433Phe) rs2093848251
NM_001378452.1(ITPR1):c.133G>A (p.Asp45Asn)
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn) rs2093849179
NM_001378452.1(ITPR1):c.1369G>T (p.Ala457Ser)
NM_001378452.1(ITPR1):c.136C>G (p.Leu46Val) rs1464038696
NM_001378452.1(ITPR1):c.1412+11_1412+12delinsTT
NM_001378452.1(ITPR1):c.1412+6C>T rs2093850197
NM_001378452.1(ITPR1):c.1413-15G>A rs148675260
NM_001378452.1(ITPR1):c.1417G>A (p.Val473Ile)
NM_001378452.1(ITPR1):c.141C>G (p.Asn47Lys)
NM_001378452.1(ITPR1):c.1425G>T (p.Lys475Asn)
NM_001378452.1(ITPR1):c.1460G>A (p.Gly487Glu)
NM_001378452.1(ITPR1):c.1499C>G (p.Ser500Cys)
NM_001378452.1(ITPR1):c.1508A>G (p.Asn503Ser)
NM_001378452.1(ITPR1):c.1512A>T (p.Arg504Ser)
NM_001378452.1(ITPR1):c.1517G>A (p.Arg506Gln)
NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)
NM_001378452.1(ITPR1):c.1550A>G (p.Lys517Arg)
NM_001378452.1(ITPR1):c.1589G>A (p.Cys530Tyr)
NM_001378452.1(ITPR1):c.1592G>C (p.Gly531Ala)
NM_001378452.1(ITPR1):c.1600C>A (p.Pro534Thr) rs2093919890
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=) rs1297659569
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=) rs886058612
NM_001378452.1(ITPR1):c.1624G>A (p.Gly542Arg)
NM_001378452.1(ITPR1):c.1627G>A (p.Asp543Asn)
NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr) rs746128987
NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)
NM_001378452.1(ITPR1):c.164-3T>C
NM_001378452.1(ITPR1):c.1642C>T (p.Pro548Ser)
NM_001378452.1(ITPR1):c.1661G>A (p.Arg554Gln)
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly) rs2093921786
NM_001378452.1(ITPR1):c.1711C>A (p.Gln571Lys)
NM_001378452.1(ITPR1):c.1754T>C (p.Ile585Thr) rs2125201780
NM_001378452.1(ITPR1):c.178C>G (p.Leu60Val)
NM_001378452.1(ITPR1):c.1808G>A (p.Arg603Gln)
NM_001378452.1(ITPR1):c.1813C>A (p.Leu605Ile)
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001378452.1(ITPR1):c.182G>C (p.Cys61Ser) rs1559566851
NM_001378452.1(ITPR1):c.1832C>A (p.Thr611Asn) rs1553682680
NM_001378452.1(ITPR1):c.1834G>A (p.Ala612Thr)
NM_001378452.1(ITPR1):c.1835C>T (p.Ala612Val)
NM_001378452.1(ITPR1):c.1876A>G (p.Arg626Gly) rs2125201991
NM_001378452.1(ITPR1):c.1883C>G (p.Pro628Arg)
NM_001378452.1(ITPR1):c.1886+7C>G
NM_001378452.1(ITPR1):c.1887-3T>C
NM_001378452.1(ITPR1):c.188T>C (p.Met63Thr) rs370953766
NM_001378452.1(ITPR1):c.1906G>A (p.Asp636Asn) rs2094030403
NM_001378452.1(ITPR1):c.1915G>A (p.Val639Ile)
NM_001378452.1(ITPR1):c.1928A>G (p.Lys643Arg) rs2094030944
NM_001378452.1(ITPR1):c.1957T>C (p.Cys653Arg)
NM_001378452.1(ITPR1):c.1963G>C (p.Ala655Pro)
NM_001378452.1(ITPR1):c.1974C>G (p.Asn658Lys)
NM_001378452.1(ITPR1):c.1976C>G (p.Pro659Arg) rs2125206672
NM_001378452.1(ITPR1):c.1984G>A (p.Ala662Thr)
NM_001378452.1(ITPR1):c.199T>G (p.Ser67Ala)
NM_001378452.1(ITPR1):c.2020C>T (p.Arg674Cys)
NM_001378452.1(ITPR1):c.2021G>A (p.Arg674His)
NM_001378452.1(ITPR1):c.2027A>C (p.Glu676Ala)
NM_001378452.1(ITPR1):c.2036G>A (p.Gly679Asp)
NM_001378452.1(ITPR1):c.2038G>C (p.Val680Leu)
NM_001378452.1(ITPR1):c.2053G>A (p.Glu685Lys)
NM_001378452.1(ITPR1):c.2054A>G (p.Glu685Gly) rs756830183
NM_001378452.1(ITPR1):c.2096T>A (p.Leu699Gln) rs2125208733
NM_001378452.1(ITPR1):c.20G>A (p.Ser7Asn)
NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn) rs373694009
NM_001378452.1(ITPR1):c.2112C>G (p.Ser704Arg)
NM_001378452.1(ITPR1):c.2129G>A (p.Ser710Asn)
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr) rs797045632
NM_001378452.1(ITPR1):c.2183G>A (p.Arg728Gln)
NM_001378452.1(ITPR1):c.2204+14G>A rs529693973
NM_001378452.1(ITPR1):c.2260A>C (p.Asn754His)
NM_001378452.1(ITPR1):c.2261A>G (p.Asn754Ser)
NM_001378452.1(ITPR1):c.226G>A (p.Ala76Thr)
NM_001378452.1(ITPR1):c.2296C>A (p.Leu766Ile)
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly) rs997975841
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys) rs961418831
NM_001378452.1(ITPR1):c.2351G>A (p.Arg784His)
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His) rs2125214071
NM_001378452.1(ITPR1):c.2399C>A (p.Thr800Asn)
NM_001378452.1(ITPR1):c.2399C>T (p.Thr800Ile) rs768078525
NM_001378452.1(ITPR1):c.2447C>T (p.Ala816Val)
NM_001378452.1(ITPR1):c.2452G>A (p.Asp818Asn)
NM_001378452.1(ITPR1):c.2455G>T (p.Asp819Tyr) rs200199463
NM_001378452.1(ITPR1):c.2468G>C (p.Ser823Thr)
NM_001378452.1(ITPR1):c.2473G>A (p.Ala825Thr) rs2094142451
NM_001378452.1(ITPR1):c.2477C>T (p.Ser826Phe) rs1553686424
NM_001378452.1(ITPR1):c.2487A>T (p.Glu829Asp)
NM_001378452.1(ITPR1):c.248C>G (p.Thr83Ser)
NM_001378452.1(ITPR1):c.2495A>G (p.Glu832Gly) rs2125216069
NM_001378452.1(ITPR1):c.2513T>C (p.Met838Thr)
NM_001378452.1(ITPR1):c.2516A>G (p.Glu839Gly) rs2094143122
NM_001378452.1(ITPR1):c.2531A>G (p.Tyr844Cys)
NM_001378452.1(ITPR1):c.2543T>C (p.Val848Ala)
NM_001378452.1(ITPR1):c.2591C>T (p.Thr864Met) rs747510246
NM_001378452.1(ITPR1):c.2602G>T (p.Val868Leu)
NM_001378452.1(ITPR1):c.2659C>G (p.Arg887Gly)
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val) rs750473506
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val) rs111670385
NM_001378452.1(ITPR1):c.2707A>C (p.Thr903Pro)
NM_001378452.1(ITPR1):c.2707A>G (p.Thr903Ala)
NM_001378452.1(ITPR1):c.2711T>C (p.Ile904Thr)
NM_001378452.1(ITPR1):c.2720T>C (p.Ile907Thr)
NM_001378452.1(ITPR1):c.2722A>G (p.Ser908Gly)
NM_001378452.1(ITPR1):c.2724C>G (p.Ser908Arg)
NM_001378452.1(ITPR1):c.2734A>C (p.Lys912Gln)
NM_001378452.1(ITPR1):c.2753G>A (p.Gly918Asp) rs775249713
NM_001378452.1(ITPR1):c.2773C>G (p.Leu925Val) rs761743436
NM_001378452.1(ITPR1):c.279+4C>G
NM_001378452.1(ITPR1):c.279+4C>T
NM_001378452.1(ITPR1):c.2792T>G (p.Met931Arg)
NM_001378452.1(ITPR1):c.279C>A (p.His93Gln)
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.2891A>G (p.Asn964Ser)
NM_001378452.1(ITPR1):c.2902G>A (p.Ala968Thr)
NM_001378452.1(ITPR1):c.2903C>T (p.Ala968Val)
NM_001378452.1(ITPR1):c.2923A>G (p.Ile975Val)
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=) rs886058614
NM_001378452.1(ITPR1):c.2954T>C (p.Ile985Thr)
NM_001378452.1(ITPR1):c.2967+5C>A rs372969151
NM_001378452.1(ITPR1):c.2T>C (p.Met1Thr) rs1575381029
NM_001378452.1(ITPR1):c.3009C>T (p.Leu1003=)
NM_001378452.1(ITPR1):c.3014G>A (p.Cys1005Tyr)
NM_001378452.1(ITPR1):c.3033T>G (p.Phe1011Leu)
NM_001378452.1(ITPR1):c.303G>C (p.Lys101Asn)
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=) rs541386070
NM_001378452.1(ITPR1):c.3076A>T (p.Ser1026Cys)
NM_001378452.1(ITPR1):c.3078C>A (p.Ser1026Arg) rs2125227783
NM_001378452.1(ITPR1):c.3079A>G (p.Ser1027Gly) rs1235735557
NM_001378452.1(ITPR1):c.3080G>T (p.Ser1027Ile)
NM_001378452.1(ITPR1):c.3089G>A (p.Gly1030Glu)
NM_001378452.1(ITPR1):c.3095G>A (p.Ser1032Asn)
NM_001378452.1(ITPR1):c.3098A>G (p.Asn1033Ser)
NM_001378452.1(ITPR1):c.3103C>T (p.Pro1035Ser)
NM_001378452.1(ITPR1):c.3108T>G (p.Gly1036=)
NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His) rs771308450
NM_001378452.1(ITPR1):c.3129T>G (p.Ile1043Met)
NM_001378452.1(ITPR1):c.3134A>C (p.Glu1045Ala)
NM_001378452.1(ITPR1):c.3161+3A>G
NM_001378452.1(ITPR1):c.3161+7A>T
NM_001378452.1(ITPR1):c.3163G>A (p.Glu1055Lys) rs2125232528
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser)
NM_001378452.1(ITPR1):c.3181G>A (p.Asp1061Asn)
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp) rs2093283649
NM_001378452.1(ITPR1):c.326A>C (p.Lys109Thr)
NM_001378452.1(ITPR1):c.3272A>G (p.Gln1091Arg) rs2125232682
NM_001378452.1(ITPR1):c.3283C>T (p.Arg1095Trp) rs752791333
NM_001378452.1(ITPR1):c.3284G>A (p.Arg1095Gln) rs2125232715
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=) rs2094337722
NM_001378452.1(ITPR1):c.3327+4G>T
NM_001378452.1(ITPR1):c.3362A>C (p.Asn1121Thr)
NM_001378452.1(ITPR1):c.3376A>C (p.Lys1126Gln)
NM_001378452.1(ITPR1):c.3377A>G (p.Lys1126Arg)
NM_001378452.1(ITPR1):c.340G>A (p.Val114Ile)
NM_001378452.1(ITPR1):c.3437G>A (p.Gly1146Glu)
NM_001378452.1(ITPR1):c.3448G>A (p.Asp1150Asn)
NM_001378452.1(ITPR1):c.3458T>C (p.Met1153Thr)
NM_001378452.1(ITPR1):c.3460G>T (p.Asp1154Tyr)
NM_001378452.1(ITPR1):c.3484C>T (p.His1162Tyr) rs751978872
NM_001378452.1(ITPR1):c.3485A>G (p.His1162Arg) rs1222841771
NM_001378452.1(ITPR1):c.3492A>C (p.Lys1164Asn)
NM_001378452.1(ITPR1):c.3497A>C (p.Glu1166Ala)
NM_001378452.1(ITPR1):c.3513G>T (p.Lys1171Asn)
NM_001378452.1(ITPR1):c.3522G>T (p.Lys1174Asn) rs771026165
NM_001378452.1(ITPR1):c.3524A>C (p.His1175Pro)
NM_001378452.1(ITPR1):c.3541T>C (p.Tyr1181His)
NM_001378452.1(ITPR1):c.3564+3A>G
NM_001378452.1(ITPR1):c.356A>G (p.Asn119Ser)
NM_001378452.1(ITPR1):c.3575G>A (p.Arg1192Gln)
NM_001378452.1(ITPR1):c.3589T>G (p.Cys1197Gly)
NM_001378452.1(ITPR1):c.3590G>C (p.Cys1197Ser)
NM_001378452.1(ITPR1):c.3600G>C (p.Glu1200Asp)
NM_001378452.1(ITPR1):c.3602G>A (p.Ser1201Asn)
NM_001378452.1(ITPR1):c.3605C>T (p.Ala1202Val)
NM_001378452.1(ITPR1):c.3613A>G (p.Arg1205Gly)
NM_001378452.1(ITPR1):c.361A>T (p.Ile121Phe) rs532037891
NM_001378452.1(ITPR1):c.3631C>A (p.Gln1211Lys)
NM_001378452.1(ITPR1):c.3641T>G (p.Leu1214Arg) rs2125235641
NM_001378452.1(ITPR1):c.3646C>T (p.Arg1216Trp)
NM_001378452.1(ITPR1):c.3647G>A (p.Arg1216Gln)
NM_001378452.1(ITPR1):c.3654G>C (p.Met1218Ile)
NM_001378452.1(ITPR1):c.3656G>A (p.Gly1219Asp) rs1374546397
NM_001378452.1(ITPR1):c.3658G>A (p.Ala1220Thr)
NM_001378452.1(ITPR1):c.366+15C>T rs145989158
NM_001378452.1(ITPR1):c.366+4G>A
NM_001378452.1(ITPR1):c.366+6T>A rs1559591437
NM_001378452.1(ITPR1):c.3665C>G (p.Ala1222Gly)
NM_001378452.1(ITPR1):c.367-20T>G
NM_001378452.1(ITPR1):c.3702+6C>T rs542846100
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3716A>G (p.Lys1239Arg)
NM_001378452.1(ITPR1):c.3727A>T (p.Ile1243Leu)
NM_001378452.1(ITPR1):c.3739G>T (p.Ala1247Ser)
NM_001378452.1(ITPR1):c.3740C>A (p.Ala1247Asp)
NM_001378452.1(ITPR1):c.3796C>T (p.His1266Tyr)
NM_001378452.1(ITPR1):c.3826G>T (p.Gly1276Trp)
NM_001378452.1(ITPR1):c.3849G>A (p.Met1283Ile)
NM_001378452.1(ITPR1):c.3861C>A (p.Phe1287Leu)
NM_001378452.1(ITPR1):c.3871T>C (p.Phe1291Leu)
NM_001378452.1(ITPR1):c.3872T>G (p.Phe1291Cys) rs1574879586
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.3889A>G (p.Ile1297Val)
NM_001378452.1(ITPR1):c.3893A>T (p.Asn1298Ile)
NM_001378452.1(ITPR1):c.3912C>A (p.His1304Gln)
NM_001378452.1(ITPR1):c.3925A>G (p.Ile1309Val)
NM_001378452.1(ITPR1):c.3926T>G (p.Ile1309Arg)
NM_001378452.1(ITPR1):c.3937G>A (p.Gly1313Ser)
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser) rs1159285250
NM_001378452.1(ITPR1):c.3950A>C (p.Gln1317Pro)
NM_001378452.1(ITPR1):c.4017G>A (p.Met1339Ile)
NM_001378452.1(ITPR1):c.4057G>A (p.Val1353Met)
NM_001378452.1(ITPR1):c.4069G>A (p.Asp1357Asn)
NM_001378452.1(ITPR1):c.4083C>A (p.Phe1361Leu) rs763239856
NM_001378452.1(ITPR1):c.4094T>A (p.Ile1365Asn)
NM_001378452.1(ITPR1):c.4106G>A (p.Arg1369Gln)
NM_001378452.1(ITPR1):c.4106G>C (p.Arg1369Pro)
NM_001378452.1(ITPR1):c.4115G>A (p.Arg1372Gln) rs2125249432
NM_001378452.1(ITPR1):c.4121G>A (p.Arg1374Gln)
NM_001378452.1(ITPR1):c.4125G>A (p.Met1375Ile)
NM_001378452.1(ITPR1):c.4126G>A (p.Asp1376Asn)
NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val) rs955458642
NM_001378452.1(ITPR1):c.4135A>G (p.Ser1379Gly) rs2125249461
NM_001378452.1(ITPR1):c.4157A>T (p.His1386Leu) rs1172066127
NM_001378452.1(ITPR1):c.4223C>T (p.Ser1408Phe)
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=) rs2094513887
NM_001378452.1(ITPR1):c.4237G>C (p.Asp1413His)
NM_001378452.1(ITPR1):c.4243A>G (p.Ile1415Val)
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe) rs762136714
NM_001378452.1(ITPR1):c.4249C>T (p.Arg1417Cys) rs1168676216
NM_001378452.1(ITPR1):c.4252G>A (p.Val1418Met)
NM_001378452.1(ITPR1):c.4252G>T (p.Val1418Leu)
NM_001378452.1(ITPR1):c.4281+6C>T
NM_001378452.1(ITPR1):c.4351T>C (p.Tyr1451His)
NM_001378452.1(ITPR1):c.4377G>T (p.Leu1459Phe) rs566552796
NM_001378452.1(ITPR1):c.4390C>G (p.Leu1464Val)
NM_001378452.1(ITPR1):c.4403G>T (p.Cys1468Phe)
NM_001378452.1(ITPR1):c.4403_4407+2del
NM_001378452.1(ITPR1):c.4408-3C>T
NM_001378452.1(ITPR1):c.4424G>A (p.Ser1475Asn)
NM_001378452.1(ITPR1):c.4424G>T (p.Ser1475Ile) rs1206311675
NM_001378452.1(ITPR1):c.4439C>A (p.Ala1480Glu)
NM_001378452.1(ITPR1):c.4439C>G (p.Ala1480Gly)
NM_001378452.1(ITPR1):c.443G>A (p.Arg148Lys) rs2093352735
NM_001378452.1(ITPR1):c.4445C>T (p.Ser1482Leu)
NM_001378452.1(ITPR1):c.4455G>C (p.Glu1485Asp) rs753039414
NM_001378452.1(ITPR1):c.4466C>T (p.Thr1489Ile)
NM_001378452.1(ITPR1):c.4480A>G (p.Ser1494Gly)
NM_001378452.1(ITPR1):c.4483A>T (p.Ile1495Phe)
NM_001378452.1(ITPR1):c.4492A>G (p.Thr1498Ala)
NM_001378452.1(ITPR1):c.4493C>G (p.Thr1498Ser)
NM_001378452.1(ITPR1):c.4502G>C (p.Ser1501Thr)
NM_001378452.1(ITPR1):c.4526C>G (p.Thr1509Arg) rs370021605
NM_001378452.1(ITPR1):c.4526C>T (p.Thr1509Met)
NM_001378452.1(ITPR1):c.4538C>G (p.Thr1513Ser)
NM_001378452.1(ITPR1):c.4583T>C (p.Val1528Ala)
NM_001378452.1(ITPR1):c.458A>G (p.Glu153Gly) rs1414031340
NM_001378452.1(ITPR1):c.4595A>G (p.Asn1532Ser)
NM_001378452.1(ITPR1):c.4606C>T (p.Pro1536Ser)
NM_001378452.1(ITPR1):c.4624G>A (p.Val1542Met)
NM_001378452.1(ITPR1):c.4633T>A (p.Cys1545Ser) rs1559731146
NM_001378452.1(ITPR1):c.4633T>C (p.Cys1545Arg)
NM_001378452.1(ITPR1):c.4639C>T (p.Arg1547Trp)
NM_001378452.1(ITPR1):c.4645C>A (p.Leu1549Met)
NM_001378452.1(ITPR1):c.4655T>G (p.Val1552Gly) rs1252955044
NM_001378452.1(ITPR1):c.4656A>G (p.Val1552=)
NM_001378452.1(ITPR1):c.4663A>T (p.Ser1555Cys) rs1290207637
NM_001378452.1(ITPR1):c.4666C>T (p.Arg1556Trp)
NM_001378452.1(ITPR1):c.4667G>A (p.Arg1556Gln)
NM_001378452.1(ITPR1):c.4669G>A (p.Ala1557Thr)
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser) rs886058615
NM_001378452.1(ITPR1):c.466A>G (p.Asn156Asp)
NM_001378452.1(ITPR1):c.4670C>A (p.Ala1557Asp) rs949775870
NM_001378452.1(ITPR1):c.4681C>A (p.Pro1561Thr)
NM_001378452.1(ITPR1):c.4682C>T (p.Pro1561Leu)
NM_001378452.1(ITPR1):c.4696A>G (p.Ser1566Gly) rs2125272782
NM_001378452.1(ITPR1):c.4710C>A (p.Asn1570Lys)
NM_001378452.1(ITPR1):c.4740G>T (p.Gln1580His)
NM_001378452.1(ITPR1):c.4759C>T (p.Arg1587Trp)
NM_001378452.1(ITPR1):c.4771C>T (p.Arg1591Cys)
NM_001378452.1(ITPR1):c.4784G>T (p.Arg1595Leu) rs754960125
NM_001378452.1(ITPR1):c.4791C>G (p.Asp1597Glu)
NM_001378452.1(ITPR1):c.4805C>A (p.Ala1602Asp)
NM_001378452.1(ITPR1):c.4810A>G (p.Arg1604Gly)
NM_001378452.1(ITPR1):c.4816T>C (p.Tyr1606His) rs2125272987
NM_001378452.1(ITPR1):c.4829T>C (p.Ile1610Thr)
NM_001378452.1(ITPR1):c.4842+3A>C
NM_001378452.1(ITPR1):c.4855G>A (p.Ala1619Thr)
NM_001378452.1(ITPR1):c.4856C>T (p.Ala1619Val)
NM_001378452.1(ITPR1):c.4864G>A (p.Asp1622Asn)
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His) rs561526280
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=) rs2082182114
NM_001378452.1(ITPR1):c.4906G>A (p.Val1636Met)
NM_001378452.1(ITPR1):c.4912G>T (p.Val1638Phe) rs2125280332
NM_001378452.1(ITPR1):c.4923A>C (p.Arg1641Ser)
NM_001378452.1(ITPR1):c.4979G>C (p.Gly1660Ala) rs752673732
NM_001378452.1(ITPR1):c.4988G>T (p.Cys1663Phe) rs2125280457
NM_001378452.1(ITPR1):c.5006C>A (p.Thr1669Lys) rs2125283014
NM_001378452.1(ITPR1):c.5011C>G (p.Gln1671Glu)
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=) rs2041390618
NM_001378452.1(ITPR1):c.5023G>A (p.Glu1675Lys)
NM_001378452.1(ITPR1):c.5053C>G (p.Leu1685Val)
NM_001378452.1(ITPR1):c.5087G>A (p.Arg1696Lys)
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.5104-1G>A rs2125292916
NM_001378452.1(ITPR1):c.5104-5T>G rs775238471
NM_001378452.1(ITPR1):c.5113A>G (p.Ile1705Val)
NM_001378452.1(ITPR1):c.5143C>T (p.Pro1715Ser)
NM_001378452.1(ITPR1):c.515T>C (p.Ile172Thr)
NM_001378452.1(ITPR1):c.5194C>A (p.Leu1732Met) rs370179124
NM_001378452.1(ITPR1):c.5222G>A (p.Gly1741Asp) rs2125317888
NM_001378452.1(ITPR1):c.5261G>A (p.Gly1754Glu)
NM_001378452.1(ITPR1):c.5267T>C (p.Val1756Ala)
NM_001378452.1(ITPR1):c.526G>A (p.Val176Met) rs2125156618
NM_001378452.1(ITPR1):c.5274T>C (p.Pro1758=) rs2125317960
NM_001378452.1(ITPR1):c.5279G>A (p.Gly1760Glu)
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) rs2291864
NM_001378452.1(ITPR1):c.5286A>G (p.Arg1762=) rs2125317989
NM_001378452.1(ITPR1):c.5303T>G (p.Phe1768Cys)
NM_001378452.1(ITPR1):c.5312G>C (p.Gly1771Ala)
NM_001378452.1(ITPR1):c.5318T>C (p.Leu1773Pro)
NM_001378452.1(ITPR1):c.5330G>C (p.Gly1777Ala)
NM_001378452.1(ITPR1):c.5341C>T (p.Pro1781Ser)
NM_001378452.1(ITPR1):c.5342C>G (p.Pro1781Arg)
NM_001378452.1(ITPR1):c.5345G>A (p.Gly1782Glu) rs1202441335
NM_001378452.1(ITPR1):c.5348G>A (p.Gly1783Glu)
NM_001378452.1(ITPR1):c.5348G>T (p.Gly1783Val)
NM_001378452.1(ITPR1):c.5353+5G>A
NM_001378452.1(ITPR1):c.5354-10A>G
NM_001378452.1(ITPR1):c.5354-8C>A rs754119985
NM_001378452.1(ITPR1):c.5354G>C (p.Gly1785Ala) rs200004069
NM_001378452.1(ITPR1):c.5357G>A (p.Gly1786Glu)
NM_001378452.1(ITPR1):c.5360G>T (p.Gly1787Val)
NM_001378452.1(ITPR1):c.5363C>G (p.Ser1788Cys)
NM_001378452.1(ITPR1):c.5372G>C (p.Ser1791Thr)
NM_001378452.1(ITPR1):c.5375C>T (p.Ser1792Phe)
NM_001378452.1(ITPR1):c.5377A>G (p.Met1793Val)
NM_001378452.1(ITPR1):c.5382C>G (p.Ser1794Arg)
NM_001378452.1(ITPR1):c.5396G>A (p.Ser1799Asn)
NM_001378452.1(ITPR1):c.5407G>A (p.Val1803Ile) rs1575064573
NM_001378452.1(ITPR1):c.5419C>T (p.Leu1807Phe) rs2125321242
NM_001378452.1(ITPR1):c.5425A>G (p.Lys1809Glu)
NM_001378452.1(ITPR1):c.5452G>A (p.Asp1818Asn)
NM_001378452.1(ITPR1):c.5466C>A (p.Asn1822Lys)
NM_001378452.1(ITPR1):c.5467G>A (p.Ala1823Thr)
NM_001378452.1(ITPR1):c.5473A>T (p.Ser1825Cys)
NM_001378452.1(ITPR1):c.5475_5480del (p.Ser1825_Asp1826del)
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=) rs774018521
NM_001378452.1(ITPR1):c.5500C>T (p.Leu1834Phe)
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=) rs776891199
NM_001378452.1(ITPR1):c.5560C>T (p.Arg1854Cys)
NM_001378452.1(ITPR1):c.5572G>A (p.Asp1858Asn)
NM_001378452.1(ITPR1):c.5573A>C (p.Asp1858Ala)
NM_001378452.1(ITPR1):c.5576A>C (p.Lys1859Thr)
NM_001378452.1(ITPR1):c.5595T>A (p.Phe1865Leu)
NM_001378452.1(ITPR1):c.55G>A (p.Ala19Thr)
NM_001378452.1(ITPR1):c.5610C>A (p.Asp1870Glu)
NM_001378452.1(ITPR1):c.5611C>T (p.Arg1871Trp)
NM_001378452.1(ITPR1):c.5621T>C (p.Val1874Ala) rs143093165
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg) rs2125373123
NM_001378452.1(ITPR1):c.5673A>G (p.Gly1891=) rs1553735513
NM_001378452.1(ITPR1):c.5678A>G (p.Lys1893Arg) rs577442813
NM_001378452.1(ITPR1):c.5681A>T (p.Lys1894Met) rs2045837616
NM_001378452.1(ITPR1):c.5700C>G (p.Asp1900Glu)
NM_001378452.1(ITPR1):c.5716C>T (p.Arg1906Trp)
NM_001378452.1(ITPR1):c.5717G>A (p.Arg1906Gln)
NM_001378452.1(ITPR1):c.5725+15G>A rs2045841537
NM_001378452.1(ITPR1):c.5725+4A>T
NM_001378452.1(ITPR1):c.5725+5A>G
NM_001378452.1(ITPR1):c.5731G>A (p.Glu1911Lys)
NM_001378452.1(ITPR1):c.5735C>T (p.Pro1912Leu)
NM_001378452.1(ITPR1):c.5770C>T (p.Leu1924Phe) rs2125376319
NM_001378452.1(ITPR1):c.5780C>T (p.Ala1927Val)
NM_001378452.1(ITPR1):c.5794_5802del (p.Arg1932_Ala1934del)
NM_001378452.1(ITPR1):c.5825C>T (p.Ala1942Val)
NM_001378452.1(ITPR1):c.5834A>G (p.Asp1945Gly)
NM_001378452.1(ITPR1):c.5836G>A (p.Asp1946Asn)
NM_001378452.1(ITPR1):c.5840A>C (p.His1947Pro) rs763857989
NM_001378452.1(ITPR1):c.5848C>A (p.Pro1950Thr)
NM_001378452.1(ITPR1):c.5858G>A (p.Gly1953Asp) rs2125376483
NM_001378452.1(ITPR1):c.5859C>T (p.Gly1953=)
NM_001378452.1(ITPR1):c.5866G>A (p.Ala1956Thr)
NM_001378452.1(ITPR1):c.5872G>A (p.Ala1958Thr)
NM_001378452.1(ITPR1):c.5874C>A (p.Ala1958=)
NM_001378452.1(ITPR1):c.5881G>A (p.Ala1961Thr)
NM_001378452.1(ITPR1):c.5890G>A (p.Asp1964Asn)
NM_001378452.1(ITPR1):c.590G>A (p.Ser197Asn)
NM_001378452.1(ITPR1):c.5915C>A (p.Thr1972Asn)
NM_001378452.1(ITPR1):c.5935C>T (p.Arg1979Cys)
NM_001378452.1(ITPR1):c.5936G>A (p.Arg1979His)
NM_001378452.1(ITPR1):c.5969G>A (p.Arg1990Gln)
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=) rs1157485528
NM_001378452.1(ITPR1):c.5972A>G (p.Asp1991Gly) rs781495978
NM_001378452.1(ITPR1):c.5980-6T>C
NM_001378452.1(ITPR1):c.5990G>A (p.Arg1997His)
NM_001378452.1(ITPR1):c.6006G>T (p.Lys2002Asn)
NM_001378452.1(ITPR1):c.610C>A (p.Pro204Thr)
NM_001378452.1(ITPR1):c.6112G>A (p.Val2038Ile)
NM_001378452.1(ITPR1):c.6148G>A (p.Glu2050Lys) rs2125387220
NM_001378452.1(ITPR1):c.6155G>C (p.Cys2052Ser) rs1553740488
NM_001378452.1(ITPR1):c.6159A>C (p.Gln2053His)
NM_001378452.1(ITPR1):c.6180+6T>G
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser) rs1360324926
NM_001378452.1(ITPR1):c.6211A>G (p.Ile2071Val)
NM_001378452.1(ITPR1):c.6239A>G (p.Asn2080Ser)
NM_001378452.1(ITPR1):c.6274C>T (p.Leu2092Phe) rs2125389919
NM_001378452.1(ITPR1):c.6292-5A>G
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
NM_001378452.1(ITPR1):c.6357G>C (p.Arg2119Ser)
NM_001378452.1(ITPR1):c.6365A>T (p.Tyr2122Phe)
NM_001378452.1(ITPR1):c.6370A>G (p.Met2124Val)
NM_001378452.1(ITPR1):c.6371T>C (p.Met2124Thr)
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val) rs2046693194
NM_001378452.1(ITPR1):c.6401A>G (p.Lys2134Arg)
NM_001378452.1(ITPR1):c.6416A>G (p.Gln2139Arg) rs2046910253
NM_001378452.1(ITPR1):c.6419G>A (p.Gly2140Asp) rs2046910377
NM_001378452.1(ITPR1):c.6427G>A (p.Glu2143Lys)
NM_001378452.1(ITPR1):c.6456T>G (p.Asp2152Glu)
NM_001378452.1(ITPR1):c.6461C>T (p.Ala2154Val)
NM_001378452.1(ITPR1):c.6463G>A (p.Ala2155Thr)
NM_001378452.1(ITPR1):c.6464C>T (p.Ala2155Val) rs2125397931
NM_001378452.1(ITPR1):c.6467C>T (p.Ser2156Phe)
NM_001378452.1(ITPR1):c.647C>T (p.Thr216Ile)
NM_001378452.1(ITPR1):c.6489C>T (p.Asn2163=)
NM_001378452.1(ITPR1):c.6491T>A (p.Ile2164Asn)
NM_001378452.1(ITPR1):c.6538A>G (p.Ser2180Gly)
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn) rs886058620
NM_001378452.1(ITPR1):c.6550C>T (p.Pro2184Ser)
NM_001378452.1(ITPR1):c.6554G>C (p.Gly2185Ala)
NM_001378452.1(ITPR1):c.6558C>T (p.Gly2186=) rs1256884190
NM_001378452.1(ITPR1):c.6568G>A (p.Gly2190Arg)
NM_001378452.1(ITPR1):c.6572A>G (p.Asp2191Gly)
NM_001378452.1(ITPR1):c.6572A>T (p.Asp2191Val)
NM_001378452.1(ITPR1):c.65C>T (p.Ser22Leu)
NM_001378452.1(ITPR1):c.6605C>T (p.Ala2202Val)
NM_001378452.1(ITPR1):c.6639G>A (p.Met2213Ile) rs2125405864
NM_001378452.1(ITPR1):c.6646A>G (p.Ile2216Val)
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
NM_001378452.1(ITPR1):c.6746A>G (p.Asn2249Ser)
NM_001378452.1(ITPR1):c.6771C>G (p.Asp2257Glu) rs748551485
NM_001378452.1(ITPR1):c.6812A>G (p.Gln2271Arg) rs1246508094
NM_001378452.1(ITPR1):c.6835C>T (p.Arg2279Cys)
NM_001378452.1(ITPR1):c.6841A>G (p.Met2281Val)
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)
NM_001378452.1(ITPR1):c.6858C>T (p.Ser2286=)
NM_001378452.1(ITPR1):c.6895G>A (p.Val2299Met) rs2047817291
NM_001378452.1(ITPR1):c.6918G>C (p.Lys2306Asn)
NM_001378452.1(ITPR1):c.6926G>A (p.Arg2309Gln)
NM_001378452.1(ITPR1):c.692A>T (p.Asp231Val)
NM_001378452.1(ITPR1):c.6931+6C>T
NM_001378452.1(ITPR1):c.6933A>G (p.Gly2311=) rs2125423186
NM_001378452.1(ITPR1):c.6935C>A (p.Thr2312Asn)
NM_001378452.1(ITPR1):c.6947A>T (p.His2316Leu)
NM_001378452.1(ITPR1):c.694G>A (p.Asp232Asn)
NM_001378452.1(ITPR1):c.6952T>A (p.Ser2318Thr)
NM_001378452.1(ITPR1):c.6953C>T (p.Ser2318Leu)
NM_001378452.1(ITPR1):c.6970G>A (p.Ala2324Thr)
NM_001378452.1(ITPR1):c.6973A>G (p.Met2325Val)
NM_001378452.1(ITPR1):c.6973A>T (p.Met2325Leu)
NM_001378452.1(ITPR1):c.6994G>T (p.Val2332Phe)
NM_001378452.1(ITPR1):c.7000G>A (p.Ala2334Thr)
NM_001378452.1(ITPR1):c.7003C>T (p.Leu2335Phe)
NM_001378452.1(ITPR1):c.7013C>T (p.Pro2338Leu)
NM_001378452.1(ITPR1):c.7024C>T (p.Arg2342Trp)
NM_001378452.1(ITPR1):c.7025G>A (p.Arg2342Gln)
NM_001378452.1(ITPR1):c.7027G>A (p.Ala2343Thr)
NM_001378452.1(ITPR1):c.7042A>G (p.Thr2348Ala) rs753499808
NM_001378452.1(ITPR1):c.7052G>A (p.Arg2351Gln)
NM_001378452.1(ITPR1):c.7066G>A (p.Val2356Ile)
NM_001378452.1(ITPR1):c.7069G>A (p.Gly2357Arg)
NM_001378452.1(ITPR1):c.7082C>T (p.Thr2361Met)
NM_001378452.1(ITPR1):c.7108-3C>T
NM_001378452.1(ITPR1):c.7222G>C (p.Val2408Leu)
NM_001378452.1(ITPR1):c.7226T>A (p.Ile2409Asn)
NM_001378452.1(ITPR1):c.7297G>A (p.Glu2433Lys)
NM_001378452.1(ITPR1):c.731A>C (p.His244Pro) rs1085308010
NM_001378452.1(ITPR1):c.7330C>T (p.Arg2444Cys) rs112560414
NM_001378452.1(ITPR1):c.7331G>T (p.Arg2444Leu)
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001378452.1(ITPR1):c.7378G>A (p.Val2460Ile) rs940526920
NM_001378452.1(ITPR1):c.7403A>T (p.Tyr2468Phe)
NM_001378452.1(ITPR1):c.7433A>C (p.Glu2478Ala)
NM_001378452.1(ITPR1):c.7438G>C (p.Asp2480His)
NM_001378452.1(ITPR1):c.7457C>T (p.Thr2486Ile)
NM_001378452.1(ITPR1):c.7462G>A (p.Val2488Ile) rs1399082347
NM_001378452.1(ITPR1):c.7465C>T (p.Pro2489Ser)
NM_001378452.1(ITPR1):c.7475G>A (p.Gly2492Asp)
NM_001378452.1(ITPR1):c.7478A>G (p.Glu2493Gly) rs985441885
NM_001378452.1(ITPR1):c.7492G>A (p.Glu2498Lys)
NM_001378452.1(ITPR1):c.7515T>G (p.Cys2505Trp)
NM_001378452.1(ITPR1):c.7522G>A (p.Glu2508Lys)
NM_001378452.1(ITPR1):c.7523A>G (p.Glu2508Gly)
NM_001378452.1(ITPR1):c.7536C>A (p.Asn2512Lys)
NM_001378452.1(ITPR1):c.7543T>G (p.Ser2515Ala)
NM_001378452.1(ITPR1):c.7544C>T (p.Ser2515Phe)
NM_001378452.1(ITPR1):c.7555A>G (p.Arg2519Gly)
NM_001378452.1(ITPR1):c.763G>A (p.Glu255Lys)
NM_001378452.1(ITPR1):c.778C>A (p.Gln260Lys)
NM_001378452.1(ITPR1):c.7960G>A (p.Val2654Ile)
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=) rs775463557
NM_001378452.1(ITPR1):c.799A>G (p.Thr267Ala) rs1553666615
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.8028+6T>A
NM_001378452.1(ITPR1):c.8029G>C (p.Glu2677Gln) rs2106544113
NM_001378452.1(ITPR1):c.8036A>G (p.Asn2679Ser)
NM_001378452.1(ITPR1):c.8036A>T (p.Asn2679Ile)
NM_001378452.1(ITPR1):c.8055G>C (p.Arg2685Ser)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.8074G>C (p.Val2692Leu)
NM_001378452.1(ITPR1):c.8078G>A (p.Ser2693Asn)
NM_001378452.1(ITPR1):c.8141T>C (p.Met2714Thr)
NM_001378452.1(ITPR1):c.8145A>C (p.Lys2715Asn)
NM_001378452.1(ITPR1):c.8153C>G (p.Thr2718Arg)
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=) rs2050964614
NM_001378452.1(ITPR1):c.8191-14T>G
NM_001378452.1(ITPR1):c.8206A>G (p.Lys2736Glu)
NM_001378452.1(ITPR1):c.8222T>C (p.Ile2741Thr)
NM_001378452.1(ITPR1):c.8236C>T (p.His2746Tyr)
NM_001378452.1(ITPR1):c.8239C>T (p.Pro2747Ser)
NM_001378452.1(ITPR1):c.8247_8251del (p.His2749fs)
NM_001378452.1(ITPR1):c.8263C>A (p.Gln2755Lys)
NM_001378452.1(ITPR1):c.8269C>A (p.Pro2757Thr) rs1314021980
NM_001378452.1(ITPR1):c.8269C>G (p.Pro2757Ala)
NM_001378452.1(ITPR1):c.826A>C (p.Thr276Pro)
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629
NM_001378452.1(ITPR1):c.833C>T (p.Ser278Leu)
NM_001378452.1(ITPR1):c.839C>T (p.Ala280Val)
NM_001378452.1(ITPR1):c.855+6G>A
NM_001378452.1(ITPR1):c.855+7G>T rs2125159889
NM_001378452.1(ITPR1):c.878G>A (p.Arg293Gln)
NM_001378452.1(ITPR1):c.883G>A (p.Gly295Arg) rs779584031
NM_001378452.1(ITPR1):c.887C>A (p.Ala296Glu)
NM_001378452.1(ITPR1):c.887C>G (p.Ala296Gly) rs746760261
NM_001378452.1(ITPR1):c.893A>T (p.Tyr298Phe)
NM_001378452.1(ITPR1):c.911G>A (p.Arg304His)
NM_001378452.1(ITPR1):c.93C>T (p.Gly31=)
NM_001378452.1(ITPR1):c.951+5G>A rs2125171533
NM_001378452.1(ITPR1):c.951+6_951+8del rs2093612036
NM_002222.6(ITPR1):c.*1366C>T rs146958900
NM_002222.6(ITPR1):c.*1531G>A rs9817206

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.