ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 589
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HGVS dbSNP gnomAD frequency
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.2732C>T (p.Ala911Val) rs201519806 0.00044
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.6349G>T (p.Ala2117Ser) rs373973399 0.00032
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.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.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.8277A>G (p.Ter2759=) rs376816678 0.00009
NM_001378452.1(ITPR1):c.4246G>A (p.Val1416Ile) rs373436949 0.00008
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.3664G>A (p.Ala1222Thr) rs372881053 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.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.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.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.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.7559A>G (p.Glu2520Gly) rs369183965 0.00003
NM_001378452.1(ITPR1):c.1492G>T (p.Val498Phe) rs756745652 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.5332C>A (p.Pro1778Thr) rs775018692 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.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_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.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.2125C>T (p.Arg709Cys) rs1169304800 0.00001
NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val) rs779996062 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.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.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378452.1(ITPR1):c.3215G>A (p.Arg1072His) rs2094336496 0.00001
NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe) rs1278034455 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.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.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.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.8258A>G (p.Asn2753Ser) rs762416053 0.00001
NM_001378452.1(ITPR1):c.*7G>T
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.1067T>G (p.Val356Gly)
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.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.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.1297G>T (p.Val433Phe) rs2093848251
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.1412+11_1412+12delinsTT
NM_001378452.1(ITPR1):c.1417G>A (p.Val473Ile)
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.1614G>A (p.Leu538=) rs1297659569
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.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.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.1915G>A (p.Val639Ile)
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.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.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.2260A>C (p.Asn754His)
NM_001378452.1(ITPR1):c.2261A>G (p.Asn754Ser)
NM_001378452.1(ITPR1):c.2296C>A (p.Leu766Ile)
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly) rs997975841
NM_001378452.1(ITPR1):c.2351G>A (p.Arg784His)
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.2468G>C (p.Ser823Thr)
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.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.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.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.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.303G>C (p.Lys101Asn)
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.3181G>A (p.Asp1061Asn)
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.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.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.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+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.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.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.3950A>C (p.Gln1317Pro)
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.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.4237G>C (p.Asp1413His)
NM_001378452.1(ITPR1):c.4243A>G (p.Ile1415Val)
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.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.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.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.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.4669G>A (p.Ala1557Thr)
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.4906G>A (p.Val1636Met)
NM_001378452.1(ITPR1):c.4912G>T (p.Val1638Phe) rs2125280332
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.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.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>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.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.5500C>T (p.Leu1834Phe)
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.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+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.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.5972A>G (p.Asp1991Gly) rs781495978
NM_001378452.1(ITPR1):c.5990G>A (p.Arg1997His)
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.6159A>C (p.Gln2053His)
NM_001378452.1(ITPR1):c.6180+6T>G
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.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.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.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.6841A>G (p.Met2281Val)
NM_001378452.1(ITPR1):c.6858C>T (p.Ser2286=)
NM_001378452.1(ITPR1):c.6918G>C (p.Lys2306Asn)
NM_001378452.1(ITPR1):c.6926G>A (p.Arg2309Gln)
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.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.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.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.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.778C>A (p.Gln260Lys)
NM_001378452.1(ITPR1):c.7960G>A (p.Val2654Ile)
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.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.8153C>G (p.Thr2718Arg)
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.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

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