ClinVar Miner

List of variants in gene ITPR1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 521
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=) rs192247062 0.00082
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=) rs140402012 0.00077
NM_001378452.1(ITPR1):c.6809-19T>C rs62231622 0.00076
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=) rs368425885 0.00054
NM_001378452.1(ITPR1):c.5544+10C>T rs191829356 0.00050
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.4658-18C>T rs370940812 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=) rs201621621 0.00037
NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=) rs202123078 0.00034
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001378452.1(ITPR1):c.1380A>G (p.Leu460=) rs375697840 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn) rs371186107 0.00026
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=) rs144178989 0.00025
NM_001378452.1(ITPR1):c.5088A>G (p.Arg1696=) rs375480720 0.00023
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val) rs188477537 0.00023
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg) rs373359869 0.00023
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_001378452.1(ITPR1):c.4164C>T (p.Val1388=) rs375770679 0.00019
NM_001378452.1(ITPR1):c.6876C>T (p.Ala2292=) rs373926844 0.00019
NM_001378452.1(ITPR1):c.1104C>T (p.Phe368=) rs552561627 0.00017
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.4843-7G>A rs184969640 0.00016
NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=) rs187516662 0.00015
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001378452.1(ITPR1):c.6180+11T>A rs772860677 0.00013
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=) rs375227391 0.00011
NM_001378452.1(ITPR1):c.1983C>T (p.Asn661=) rs369495242 0.00010
NM_001378452.1(ITPR1):c.7926A>G (p.Glu2642=) rs763498610 0.00010
NM_001378452.1(ITPR1):c.3069C>T (p.Ser1023=) rs762618794 0.00008
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=) rs549363319 0.00008
NM_001378452.1(ITPR1):c.2187C>T (p.Asp729=) rs376805768 0.00007
NM_001378452.1(ITPR1):c.4848C>T (p.Ile1616=) rs746194855 0.00007
NM_001378452.1(ITPR1):c.855+8T>G rs750692979 0.00007
NM_001378452.1(ITPR1):c.280-10C>A rs761952049 0.00006
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) rs373515668 0.00006
NM_001378452.1(ITPR1):c.3495G>A (p.Thr1165=) rs781586783 0.00006
NM_001378452.1(ITPR1):c.3565-4C>T rs374122245 0.00006
NM_001378452.1(ITPR1):c.3666C>T (p.Ala1222=) rs763869150 0.00006
NM_001378452.1(ITPR1):c.4542C>T (p.Arg1514=) rs770868001 0.00006
NM_001378452.1(ITPR1):c.4572C>T (p.Gly1524=) rs200605212 0.00006
NM_001378452.1(ITPR1):c.6348C>T (p.Asn2116=) rs182891619 0.00006
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=) rs780138157 0.00006
NM_001378452.1(ITPR1):c.783C>T (p.His261=) rs542591284 0.00006
NM_001378452.1(ITPR1):c.8010C>T (p.Tyr2670=) rs372433483 0.00006
NM_001378452.1(ITPR1):c.8154G>A (p.Thr2718=) rs368813104 0.00006
NM_001378452.1(ITPR1):c.1714-9C>A rs367806130 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.3447C>T (p.Pro1149=) rs372672483 0.00005
NM_001378452.1(ITPR1):c.366+15C>G rs145989158 0.00005
NM_001378452.1(ITPR1):c.3846C>T (p.Thr1282=) rs767697214 0.00005
NM_001378452.1(ITPR1):c.4683C>T (p.Pro1561=) rs529789068 0.00005
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser) rs200927261 0.00005
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) rs35343277 0.00005
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=) rs545754582 0.00005
NM_001378452.1(ITPR1):c.7197G>A (p.Glu2399=) rs538209212 0.00005
NM_001378452.1(ITPR1):c.1161T>C (p.Tyr387=) rs565375216 0.00004
NM_001378452.1(ITPR1):c.1413-16C>T rs369770816 0.00004
NM_001378452.1(ITPR1):c.1886+16G>A rs375446884 0.00004
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn) rs185464679 0.00004
NM_001378452.1(ITPR1):c.2349C>T (p.Cys783=) rs770093543 0.00004
NM_001378452.1(ITPR1):c.2967+8C>T rs1166014936 0.00004
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=) rs745351516 0.00004
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=) rs542486327 0.00004
NM_001378452.1(ITPR1):c.4537-6T>C rs557642414 0.00004
NM_001378452.1(ITPR1):c.4991+10C>G rs1400163478 0.00004
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.6181-5C>T rs748996100 0.00004
NM_001378452.1(ITPR1):c.6726C>T (p.Asp2242=) rs114359276 0.00004
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_001378452.1(ITPR1):c.709-6T>C rs374932152 0.00004
NM_001378452.1(ITPR1):c.7868-16T>C rs374409086 0.00004
NM_001378452.1(ITPR1):c.7992T>C (p.Tyr2664=) rs201894676 0.00004
NM_001378452.1(ITPR1):c.8031A>G (p.Glu2677=) rs768066092 0.00004
NM_001378452.1(ITPR1):c.1413-4T>A rs761813644 0.00003
NM_001378452.1(ITPR1):c.1833C>T (p.Thr611=) rs546056087 0.00003
NM_001378452.1(ITPR1):c.2456+20_2456+23dup rs1412066204 0.00003
NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=) rs562572079 0.00003
NM_001378452.1(ITPR1):c.3576G>T (p.Arg1192=) rs767237814 0.00003
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=) rs373572745 0.00003
NM_001378452.1(ITPR1):c.4377G>A (p.Leu1459=) rs566552796 0.00003
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=) rs886058616 0.00003
NM_001378452.1(ITPR1):c.525+9G>A rs573607286 0.00003
NM_001378452.1(ITPR1):c.6693A>G (p.Ser2231=) rs763938511 0.00003
NM_001378452.1(ITPR1):c.6808+13G>A rs374084743 0.00003
NM_001378452.1(ITPR1):c.6993C>T (p.Ile2331=) rs369778265 0.00003
NM_001378452.1(ITPR1):c.7272+15T>A rs777868994 0.00003
NM_001378452.1(ITPR1):c.1014C>T (p.Asp338=) rs752325769 0.00002
NM_001378452.1(ITPR1):c.1714-12C>T rs765853714 0.00002
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=) rs748274420 0.00002
NM_001378452.1(ITPR1):c.3912C>T (p.His1304=) rs556943368 0.00002
NM_001378452.1(ITPR1):c.4537-18T>C rs769548026 0.00002
NM_001378452.1(ITPR1):c.4719C>G (p.Leu1573=) rs375679048 0.00002
NM_001378452.1(ITPR1):c.4779C>T (p.Ala1593=) rs371821418 0.00002
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=) rs886058618 0.00002
NM_001378452.1(ITPR1):c.5838C>T (p.Asp1946=) rs755937487 0.00002
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) rs748401794 0.00002
NM_001378452.1(ITPR1):c.625-19A>G rs1470591499 0.00002
NM_001378452.1(ITPR1):c.7386G>C (p.Leu2462=) rs757334294 0.00002
NM_001378452.1(ITPR1):c.7872G>A (p.Leu2624=) rs780714476 0.00002
NM_001378452.1(ITPR1):c.8175G>A (p.Ser2725=) rs767821093 0.00002
NM_001378452.1(ITPR1):c.1152-6T>C rs752886993 0.00001
NM_001378452.1(ITPR1):c.1167G>T (p.Arg389=) rs779491938 0.00001
NM_001378452.1(ITPR1):c.1251+7C>T rs773078694 0.00001
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser) rs561470737 0.00001
NM_001378452.1(ITPR1):c.1638C>T (p.His546=) rs1464579960 0.00001
NM_001378452.1(ITPR1):c.1773T>G (p.Ala591=) rs191028530 0.00001
NM_001378452.1(ITPR1):c.2006+20T>A rs766235391 0.00001
NM_001378452.1(ITPR1):c.2205-14G>T rs766020180 0.00001
NM_001378452.1(ITPR1):c.2286C>T (p.Val762=) rs766955271 0.00001
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=) rs779948053 0.00001
NM_001378452.1(ITPR1):c.2854T>C (p.Leu952=) rs377497261 0.00001
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=) rs764301997 0.00001
NM_001378452.1(ITPR1):c.303G>A (p.Lys101=) rs374450149 0.00001
NM_001378452.1(ITPR1):c.3162-20C>T rs751455829 0.00001
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=) rs764767201 0.00001
NM_001378452.1(ITPR1):c.3564+9C>T rs564799796 0.00001
NM_001378452.1(ITPR1):c.3703-19T>C rs1275860113 0.00001
NM_001378452.1(ITPR1):c.3873C>G (p.Phe1291Leu) rs567943387 0.00001
NM_001378452.1(ITPR1):c.4098G>A (p.Gln1366=) rs774836136 0.00001
NM_001378452.1(ITPR1):c.4155C>T (p.Ile1385=) rs267599850 0.00001
NM_001378452.1(ITPR1):c.4242C>T (p.Asp1414=) rs776080261 0.00001
NM_001378452.1(ITPR1):c.4251C>T (p.Arg1417=) rs375223250 0.00001
NM_001378452.1(ITPR1):c.4293A>C (p.Ala1431=) rs769168934 0.00001
NM_001378452.1(ITPR1):c.4398C>T (p.Asp1466=) rs1160840466 0.00001
NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=) rs192863290 0.00001
NM_001378452.1(ITPR1):c.4657+9C>G rs757529314 0.00001
NM_001378452.1(ITPR1):c.4689C>T (p.Asp1563=) rs549933249 0.00001
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=) rs886058578 0.00001
NM_001378452.1(ITPR1):c.4968T>C (p.Cys1656=) rs1345459380 0.00001
NM_001378452.1(ITPR1):c.4992-15T>G rs552425239 0.00001
NM_001378452.1(ITPR1):c.5364C>T (p.Ser1788=) rs769349793 0.00001
NM_001378452.1(ITPR1):c.5760C>T (p.Val1920=) rs773926755 0.00001
NM_001378452.1(ITPR1):c.5784C>T (p.Ser1928=) rs553415592 0.00001
NM_001378452.1(ITPR1):c.5785G>A (p.Ala1929Thr) rs377199612 0.00001
NM_001378452.1(ITPR1):c.5931C>T (p.Ile1977=) rs780156889 0.00001
NM_001378452.1(ITPR1):c.5979+19G>A rs776360563 0.00001
NM_001378452.1(ITPR1):c.6069T>C (p.Thr2023=) rs374602663 0.00001
NM_001378452.1(ITPR1):c.6511-7A>G rs537619023 0.00001
NM_001378452.1(ITPR1):c.6603G>A (p.Thr2201=) rs149339933 0.00001
NM_001378452.1(ITPR1):c.6711T>C (p.Tyr2237=) rs750456014 0.00001
NM_001378452.1(ITPR1):c.7365G>A (p.Leu2455=) rs764042735 0.00001
NM_001378452.1(ITPR1):c.7428C>T (p.Ile2476=) rs758670524 0.00001
NM_001378452.1(ITPR1):c.765A>G (p.Glu255=) rs926159378 0.00001
NM_001378452.1(ITPR1):c.8029-7A>C rs918140965 0.00001
NM_001378452.1(ITPR1):c.813G>A (p.Ser271=) rs112057923 0.00001
NM_001378452.1(ITPR1):c.903C>T (p.Ser301=) rs776454785 0.00001
NM_001378452.1(ITPR1):c.1021C>A (p.Arg341=) rs2093754929
NM_001378452.1(ITPR1):c.1035G>A (p.Arg345=)
NM_001378452.1(ITPR1):c.1140C>T (p.Ser380=)
NM_001378452.1(ITPR1):c.1146C>A (p.Val382=)
NM_001378452.1(ITPR1):c.1151+11A>G rs2125184641
NM_001378452.1(ITPR1):c.1152-20C>T
NM_001378452.1(ITPR1):c.1239C>T (p.Pro413=)
NM_001378452.1(ITPR1):c.1242G>C (p.Val414=) rs2093821905
NM_001378452.1(ITPR1):c.1251+17G>T
NM_001378452.1(ITPR1):c.1252-18G>A
NM_001378452.1(ITPR1):c.1296A>C (p.Ile432=)
NM_001378452.1(ITPR1):c.1335T>C (p.Phe445=)
NM_001378452.1(ITPR1):c.1371T>C (p.Ala457=)
NM_001378452.1(ITPR1):c.1392C>T (p.Thr464=)
NM_001378452.1(ITPR1):c.1412+10C>G
NM_001378452.1(ITPR1):c.1412+11C>G
NM_001378452.1(ITPR1):c.1412+12C>T
NM_001378452.1(ITPR1):c.1413-15G>A rs148675260
NM_001378452.1(ITPR1):c.1413-15G>C
NM_001378452.1(ITPR1):c.1431A>G (p.Leu477=)
NM_001378452.1(ITPR1):c.1461A>G (p.Gly487=)
NM_001378452.1(ITPR1):c.1485C>G (p.Leu495=)
NM_001378452.1(ITPR1):c.1554+13T>C
NM_001378452.1(ITPR1):c.1554+16C>T
NM_001378452.1(ITPR1):c.1555-6A>T
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=) rs1297659569
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=) rs886058612
NM_001378452.1(ITPR1):c.163+13C>T
NM_001378452.1(ITPR1):c.164-13G>A
NM_001378452.1(ITPR1):c.1665C>G (p.Leu555=)
NM_001378452.1(ITPR1):c.1689G>A (p.Ser563=) rs772649946
NM_001378452.1(ITPR1):c.1713+14A>C
NM_001378452.1(ITPR1):c.1713+14A>G
NM_001378452.1(ITPR1):c.1714-20T>G
NM_001378452.1(ITPR1):c.1714-7_1714-5del
NM_001378452.1(ITPR1):c.1767G>A (p.Val589=)
NM_001378452.1(ITPR1):c.178C>T (p.Leu60=) rs376974334
NM_001378452.1(ITPR1):c.1791C>T (p.Ala597=)
NM_001378452.1(ITPR1):c.1875C>T (p.Asn625=)
NM_001378452.1(ITPR1):c.1886+8G>A
NM_001378452.1(ITPR1):c.1887-8C>G
NM_001378452.1(ITPR1):c.1887-8_1887-3del rs766242846
NM_001378452.1(ITPR1):c.1905C>T (p.Ser635=)
NM_001378452.1(ITPR1):c.1986T>A (p.Ala662=)
NM_001378452.1(ITPR1):c.1992C>A (p.Ile664=)
NM_001378452.1(ITPR1):c.2006+16G>C
NM_001378452.1(ITPR1):c.2006+8G>T
NM_001378452.1(ITPR1):c.2007-15C>T
NM_001378452.1(ITPR1):c.2007-21CCT[2] rs1192769249
NM_001378452.1(ITPR1):c.2007-7T>C
NM_001378452.1(ITPR1):c.2007-9G>C
NM_001378452.1(ITPR1):c.2109C>T (p.Asp703=)
NM_001378452.1(ITPR1):c.2136T>C (p.Ser712=)
NM_001378452.1(ITPR1):c.2145A>G (p.Glu715=)
NM_001378452.1(ITPR1):c.2204+14G>A rs529693973
NM_001378452.1(ITPR1):c.2204+14G>C rs529693973
NM_001378452.1(ITPR1):c.2204+14G>T
NM_001378452.1(ITPR1):c.2205-19C>G
NM_001378452.1(ITPR1):c.2247A>G (p.Gln749=)
NM_001378452.1(ITPR1):c.2262C>T (p.Asn754=)
NM_001378452.1(ITPR1):c.2313C>T (p.Asp771=)
NM_001378452.1(ITPR1):c.2340G>T (p.Ala780=) rs748274420
NM_001378452.1(ITPR1):c.2403C>T (p.Pro801=)
NM_001378452.1(ITPR1):c.2412T>C (p.Tyr804=)
NM_001378452.1(ITPR1):c.2418C>A (p.Arg806=)
NM_001378452.1(ITPR1):c.2418C>T (p.Arg806=)
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.2427G>C (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.2451T>A (p.Ile817=)
NM_001378452.1(ITPR1):c.2454C>T (p.Asp818=)
NM_001378452.1(ITPR1):c.2456+13C>T
NM_001378452.1(ITPR1):c.2457-15C>A
NM_001378452.1(ITPR1):c.2475T>C (p.Ala825=)
NM_001378452.1(ITPR1):c.2526G>A (p.Glu842=)
NM_001378452.1(ITPR1):c.2592G>A (p.Thr864=)
NM_001378452.1(ITPR1):c.2631T>C (p.Phe877=) rs745533334
NM_001378452.1(ITPR1):c.2676T>A (p.Leu892=) rs2094158249
NM_001378452.1(ITPR1):c.2686T>C (p.Leu896=)
NM_001378452.1(ITPR1):c.2697A>C (p.Val899=)
NM_001378452.1(ITPR1):c.2706A>G (p.Thr902=)
NM_001378452.1(ITPR1):c.2759A>G (p.Asn920Ser)
NM_001378452.1(ITPR1):c.2762A>T (p.Asp921Val)
NM_001378452.1(ITPR1):c.2780-6T>G
NM_001378452.1(ITPR1):c.2787C>T (p.Asn929=)
NM_001378452.1(ITPR1):c.279+11C>T
NM_001378452.1(ITPR1):c.279+13A>G
NM_001378452.1(ITPR1):c.279+16G>A
NM_001378452.1(ITPR1):c.279+18G>C rs1266284169
NM_001378452.1(ITPR1):c.279+20_279+31del
NM_001378452.1(ITPR1):c.280-16T>C
NM_001378452.1(ITPR1):c.282C>T (p.His94=)
NM_001378452.1(ITPR1):c.2859C>T (p.Pro953=)
NM_001378452.1(ITPR1):c.2946G>A (p.Leu982=)
NM_001378452.1(ITPR1):c.2967+11G>C
NM_001378452.1(ITPR1):c.2967+16A>G
NM_001378452.1(ITPR1):c.306G>A (p.Gln102=)
NM_001378452.1(ITPR1):c.3107-15G>A
NM_001378452.1(ITPR1):c.3138A>G (p.Gln1046=)
NM_001378452.1(ITPR1):c.3162-12G>C rs752879408
NM_001378452.1(ITPR1):c.3162-18C>T
NM_001378452.1(ITPR1):c.3171C>T (p.Asn1057=)
NM_001378452.1(ITPR1):c.3174C>T (p.Thr1058=)
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser)
NM_001378452.1(ITPR1):c.3198C>T (p.Gly1066=)
NM_001378452.1(ITPR1):c.3207C>A (p.Thr1069=)
NM_001378452.1(ITPR1):c.3261A>C (p.Ser1087=) rs1574844161
NM_001378452.1(ITPR1):c.3270G>T (p.Leu1090=)
NM_001378452.1(ITPR1):c.3279C>A (p.Leu1093=)
NM_001378452.1(ITPR1):c.3294C>T (p.Ser1098=)
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=) rs2094337722
NM_001378452.1(ITPR1):c.3327+18C>G
NM_001378452.1(ITPR1):c.3327+19G>A
NM_001378452.1(ITPR1):c.3327+7C>T
NM_001378452.1(ITPR1):c.3328-10G>A
NM_001378452.1(ITPR1):c.3328-17G>A
NM_001378452.1(ITPR1):c.336G>A (p.Gly112=)
NM_001378452.1(ITPR1):c.339C>T (p.Thr113=)
NM_001378452.1(ITPR1):c.33T>C (p.Ile11=)
NM_001378452.1(ITPR1):c.3498+11C>T
NM_001378452.1(ITPR1):c.3498+13C>A rs756669707
NM_001378452.1(ITPR1):c.3499-8G>C
NM_001378452.1(ITPR1):c.3561A>G (p.Lys1187=)
NM_001378452.1(ITPR1):c.3564+14C>G
NM_001378452.1(ITPR1):c.3564+16_3564+17del
NM_001378452.1(ITPR1):c.3564+17C>T
NM_001378452.1(ITPR1):c.3564+20C>A
NM_001378452.1(ITPR1):c.3565-17T>C rs760881384
NM_001378452.1(ITPR1):c.3565-20G>A
NM_001378452.1(ITPR1):c.3565-5A>G
NM_001378452.1(ITPR1):c.366+15C>T rs145989158
NM_001378452.1(ITPR1):c.3663C>T (p.His1221=)
NM_001378452.1(ITPR1):c.367-13G>T
NM_001378452.1(ITPR1):c.3702+16T>A
NM_001378452.1(ITPR1):c.3702+20C>T
NM_001378452.1(ITPR1):c.3702+7G>A
NM_001378452.1(ITPR1):c.3703-11C>T
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.372G>A (p.Leu124=)
NM_001378452.1(ITPR1):c.3756G>A (p.Gln1252=)
NM_001378452.1(ITPR1):c.3759T>C (p.Asn1253=)
NM_001378452.1(ITPR1):c.3795A>G (p.Leu1265=) rs1417859810
NM_001378452.1(ITPR1):c.3828+21_3828+28del
NM_001378452.1(ITPR1):c.3829-10C>G
NM_001378452.1(ITPR1):c.3840A>G (p.Ala1280=)
NM_001378452.1(ITPR1):c.3852G>A (p.Gln1284=)
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.3900A>G (p.Arg1300=)
NM_001378452.1(ITPR1):c.4026C>T (p.Ala1342=)
NM_001378452.1(ITPR1):c.4029+20G>A rs2125245727
NM_001378452.1(ITPR1):c.4030-13G>A
NM_001378452.1(ITPR1):c.4030-18A>T
NM_001378452.1(ITPR1):c.4038T>C (p.Asn1346=)
NM_001378452.1(ITPR1):c.4041G>A (p.Ser1347=)
NM_001378452.1(ITPR1):c.4050T>C (p.Asp1350=)
NM_001378452.1(ITPR1):c.4080T>C (p.Ser1360=)
NM_001378452.1(ITPR1):c.4095C>T (p.Ile1365=)
NM_001378452.1(ITPR1):c.4185G>A (p.Thr1395=)
NM_001378452.1(ITPR1):c.4221C>T (p.Asn1407=)
NM_001378452.1(ITPR1):c.4234C>T (p.Leu1412=)
NM_001378452.1(ITPR1):c.4245C>A (p.Ile1415=)
NM_001378452.1(ITPR1):c.4245C>T (p.Ile1415=)
NM_001378452.1(ITPR1):c.4263C>T (p.His1421=)
NM_001378452.1(ITPR1):c.4281+12C>T
NM_001378452.1(ITPR1):c.4281+14G>A
NM_001378452.1(ITPR1):c.4281+18G>T
NM_001378452.1(ITPR1):c.4282-10T>C
NM_001378452.1(ITPR1):c.4282-9A>G
NM_001378452.1(ITPR1):c.4296C>T (p.Tyr1432=)
NM_001378452.1(ITPR1):c.4308G>A (p.Leu1436=) rs1285540328
NM_001378452.1(ITPR1):c.4308G>T (p.Leu1436=) rs1285540328
NM_001378452.1(ITPR1):c.4395A>G (p.Val1465=)
NM_001378452.1(ITPR1):c.4407+11T>C
NM_001378452.1(ITPR1):c.4407+14A>C
NM_001378452.1(ITPR1):c.4407+8T>A
NM_001378452.1(ITPR1):c.4408-16C>T
NM_001378452.1(ITPR1):c.4408-9G>A
NM_001378452.1(ITPR1):c.4446G>A (p.Ser1482=)
NM_001378452.1(ITPR1):c.4464C>T (p.Val1488=)
NM_001378452.1(ITPR1):c.4467C>T (p.Thr1489=)
NM_001378452.1(ITPR1):c.4527G>A (p.Thr1509=)
NM_001378452.1(ITPR1):c.4530T>G (p.Thr1510=)
NM_001378452.1(ITPR1):c.4536+17G>A
NM_001378452.1(ITPR1):c.4537-10C>T
NM_001378452.1(ITPR1):c.4537-20C>A
NM_001378452.1(ITPR1):c.4537-20C>T
NM_001378452.1(ITPR1):c.4545G>A (p.Gln1515=)
NM_001378452.1(ITPR1):c.456C>T (p.Asp152=)
NM_001378452.1(ITPR1):c.4657+10del
NM_001378452.1(ITPR1):c.4657+17G>T
NM_001378452.1(ITPR1):c.4657+19T>C
NM_001378452.1(ITPR1):c.4731C>T (p.Ser1577=) rs2125272834
NM_001378452.1(ITPR1):c.4788G>A (p.Arg1596=)
NM_001378452.1(ITPR1):c.4830T>C (p.Ile1610=)
NM_001378452.1(ITPR1):c.4836A>G (p.Arg1612=)
NM_001378452.1(ITPR1):c.4842+12T>C rs2125273040
NM_001378452.1(ITPR1):c.4842+13G>A
NM_001378452.1(ITPR1):c.4842+8C>A
NM_001378452.1(ITPR1):c.4842+8_4842+9del rs2094756568
NM_001378452.1(ITPR1):c.4843-13_4843-12del
NM_001378452.1(ITPR1):c.4843-19G>T
NM_001378452.1(ITPR1):c.4843-8C>G
NM_001378452.1(ITPR1):c.4872C>T (p.Leu1624=)
NM_001378452.1(ITPR1):c.4920C>T (p.His1640=)
NM_001378452.1(ITPR1):c.4947C>T (p.Asn1649=)
NM_001378452.1(ITPR1):c.4953C>T (p.Asp1651=)
NM_001378452.1(ITPR1):c.4977C>T (p.Gly1659=)
NM_001378452.1(ITPR1):c.4992-20G>A
NM_001378452.1(ITPR1):c.4992-7C>G
NM_001378452.1(ITPR1):c.4992-7del rs546612625
NM_001378452.1(ITPR1):c.5004T>C (p.His1668=)
NM_001378452.1(ITPR1):c.501C>T (p.Tyr167=)
NM_001378452.1(ITPR1):c.5079C>G (p.Thr1693=) rs1248702584
NM_001378452.1(ITPR1):c.5103+9T>C
NM_001378452.1(ITPR1):c.5221-15C>A rs2125317871
NM_001378452.1(ITPR1):c.5229G>A (p.Ala1743=)
NM_001378452.1(ITPR1):c.525+10G>T rs2125153147
NM_001378452.1(ITPR1):c.525+8C>T
NM_001378452.1(ITPR1):c.526-9C>T
NM_001378452.1(ITPR1):c.5277G>C (p.Ser1759=) rs368425885
NM_001378452.1(ITPR1):c.5292C>T (p.Ser1764=)
NM_001378452.1(ITPR1):c.5310T>C (p.Asn1770=)
NM_001378452.1(ITPR1):c.5346G>C (p.Gly1782=)
NM_001378452.1(ITPR1):c.5354-10A>G
NM_001378452.1(ITPR1):c.5354-10A>T
NM_001378452.1(ITPR1):c.5354-19C>A
NM_001378452.1(ITPR1):c.5354-7T>A
NM_001378452.1(ITPR1):c.5354-8C>G
NM_001378452.1(ITPR1):c.5382C>T (p.Ser1794=)
NM_001378452.1(ITPR1):c.5460C>T (p.Ile1820=)
NM_001378452.1(ITPR1):c.5469A>C (p.Ala1823=)
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.5577G>A (p.Lys1859=)
NM_001378452.1(ITPR1):c.5598G>A (p.Lys1866=)
NM_001378452.1(ITPR1):c.5649G>A (p.Val1883=)
NM_001378452.1(ITPR1):c.564T>C (p.Asn188=)
NM_001378452.1(ITPR1):c.5688C>T (p.Asp1896=)
NM_001378452.1(ITPR1):c.5709C>A (p.Ala1903=) rs776704462
NM_001378452.1(ITPR1):c.5715A>G (p.Ser1905=)
NM_001378452.1(ITPR1):c.5733G>A (p.Glu1911=)
NM_001378452.1(ITPR1):c.5799A>G (p.Lys1933=)
NM_001378452.1(ITPR1):c.5802C>T (p.Ala1934=)
NM_001378452.1(ITPR1):c.5832C>T (p.Pro1944=)
NM_001378452.1(ITPR1):c.5865G>A (p.Gln1955=)
NM_001378452.1(ITPR1):c.5874C>T (p.Ala1958=)
NM_001378452.1(ITPR1):c.5907G>A (p.Ala1969=)
NM_001378452.1(ITPR1):c.5910C>T (p.Val1970=) rs753430331
NM_001378452.1(ITPR1):c.5928C>T (p.Pro1976=)
NM_001378452.1(ITPR1):c.5931C>A (p.Ile1977=)
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.6180+19T>C
NM_001378452.1(ITPR1):c.6229C>T (p.Leu2077=)
NM_001378452.1(ITPR1):c.625-15G>A
NM_001378452.1(ITPR1):c.625-16C>G rs536653326
NM_001378452.1(ITPR1):c.6291+9G>A rs1385142016
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.633C>T (p.Ser211=)
NM_001378452.1(ITPR1):c.636C>T (p.Val212=)
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.6462G>A (p.Ala2154=)
NM_001378452.1(ITPR1):c.6465G>A (p.Ala2155=)
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.6567C>T (p.Asp2189=)
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>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.6816C>T (p.Pro2272=)
NM_001378452.1(ITPR1):c.6831T>C (p.Cys2277=)
NM_001378452.1(ITPR1):c.6900G>A (p.Ala2300=)
NM_001378452.1(ITPR1):c.6924C>T (p.Val2308=)
NM_001378452.1(ITPR1):c.6932-17C>G
NM_001378452.1(ITPR1):c.6936C>A (p.Thr2312=)
NM_001378452.1(ITPR1):c.6984T>C (p.Ser2328=)
NM_001378452.1(ITPR1):c.7002C>T (p.Ala2334=)
NM_001378452.1(ITPR1):c.7005C>T (p.Leu2335=) rs2125423325
NM_001378452.1(ITPR1):c.7023C>T (p.Ile2341=)
NM_001378452.1(ITPR1):c.7029C>T (p.Ala2343=)
NM_001378452.1(ITPR1):c.7050A>G (p.Leu2350=)
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.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.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.7320A>G (p.Lys2440=)
NM_001378452.1(ITPR1):c.7443G>A (p.Arg2481=)
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.7476C>A (p.Gly2492=)
NM_001378452.1(ITPR1):c.7500G>C (p.Leu2500=)
NM_001378452.1(ITPR1):c.7561+15C>A
NM_001378452.1(ITPR1):c.762C>T (p.Asp254=)
NM_001378452.1(ITPR1):c.7868-13G>A
NM_001378452.1(ITPR1):c.7868-20G>A
NM_001378452.1(ITPR1):c.7953C>T (p.Cys2651=) rs774135923
NM_001378452.1(ITPR1):c.7980C>T (p.Asp2660=)
NM_001378452.1(ITPR1):c.7989A>G (p.Glu2663=)
NM_001378452.1(ITPR1):c.798C>G (p.Thr266=)
NM_001378452.1(ITPR1):c.8028+17C>G
NM_001378452.1(ITPR1):c.8028+20G>A
NM_001378452.1(ITPR1):c.8029-19T>C
NM_001378452.1(ITPR1):c.8029-4C>T rs1360786935
NM_001378452.1(ITPR1):c.8029-8G>C
NM_001378452.1(ITPR1):c.8070A>G (p.Ser2690=) rs764602780
NM_001378452.1(ITPR1):c.807G>A (p.Arg269=)
NM_001378452.1(ITPR1):c.8082T>C (p.Ser2694=)
NM_001378452.1(ITPR1):c.8121G>A (p.Gln2707=)
NM_001378452.1(ITPR1):c.8190+16C>G
NM_001378452.1(ITPR1):c.8190+17C>T
NM_001378452.1(ITPR1):c.8191-20G>A
NM_001378452.1(ITPR1):c.8274A>G (p.Ala2758=)
NM_001378452.1(ITPR1):c.8276A>G (p.Ter2759=)
NM_001378452.1(ITPR1):c.831T>C (p.Ser277=)
NM_001378452.1(ITPR1):c.906T>C (p.Leu302=)
NM_001378452.1(ITPR1):c.93-18T>C
NM_001378452.1(ITPR1):c.933G>A (p.Gly311=)
NM_001378452.1(ITPR1):c.951+11G>A
NM_001378452.1(ITPR1):c.951+20G>A
NM_001378452.1(ITPR1):c.951+9C>A rs908832824
NM_001378452.1(ITPR1):c.997-15A>G

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