ClinVar Miner

List of variants in gene IQSEC2 studied for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 890
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=) rs1315062158 0.05436
NM_001111125.3(IQSEC2):c.2297+14G>A rs17002631 0.02684
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001111125.3(IQSEC2):c.737+10291G>A rs189694247 0.00773
NM_001111125.3(IQSEC2):c.3015+14G>C rs189183148 0.00462
NM_001111125.3(IQSEC2):c.3277+18G>A rs143966238 0.00306
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) rs782713602 0.00115
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368 0.00101
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542 0.00062
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286 0.00049
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) rs782744933 0.00033
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662 0.00028
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=) rs1057521625 0.00028
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_001111125.3(IQSEC2):c.2890-6G>A rs184248834 0.00025
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=) rs782769823 0.00014
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=) rs782760727 0.00012
NM_001111125.3(IQSEC2):c.2931G>A (p.Gln977=) rs140023181 0.00011
NM_001111125.3(IQSEC2):c.3116-19G>A rs782264682 0.00011
NM_001111125.3(IQSEC2):c.1648C>G (p.Pro550Ala) rs782469479 0.00010
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=) rs1216934275 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00009
NM_001111125.3(IQSEC2):c.4311T>C (p.Tyr1437=) rs1556858993 0.00009
NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=) rs1354953265 0.00009
NM_001111125.3(IQSEC2):c.2297+4C>T rs781794155 0.00008
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=) rs782434593 0.00007
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu) rs142545002 0.00007
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=) rs1408670208 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.3015+9A>G rs781956154 0.00007
NM_001111125.3(IQSEC2):c.3116-4A>T rs371502883 0.00007
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser) rs782101524 0.00007
NM_001111125.3(IQSEC2):c.405G>A (p.Arg135=) rs782085578 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001111125.3(IQSEC2):c.2582+11C>A rs782764289 0.00006
NM_001111125.3(IQSEC2):c.3015+16G>A rs184771608 0.00006
NM_001111125.3(IQSEC2):c.3242C>T (p.Ala1081Val) rs782715847 0.00006
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser) rs782355048 0.00006
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=) rs1057522131 0.00005
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) rs200629644 0.00005
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu) rs782243346 0.00005
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335 0.00005
NM_001111125.3(IQSEC2):c.1703G>A (p.Arg568His) rs1188327285 0.00005
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) rs782132072 0.00005
NM_001111125.3(IQSEC2):c.3115+11T>G rs782704136 0.00005
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val) rs1003745171 0.00005
NM_001111125.3(IQSEC2):c.1401+7A>G rs782164403 0.00004
NM_001111125.3(IQSEC2):c.18G>A (p.Gly6=) rs781828922 0.00004
NM_001111125.3(IQSEC2):c.2022T>A (p.Gly674=) rs1471608548 0.00004
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206 0.00004
NM_001111125.3(IQSEC2):c.2232G>A (p.Ser744=) rs371815225 0.00004
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=) rs782668223 0.00004
NM_001111125.3(IQSEC2):c.2784C>G (p.Leu928=) rs781904549 0.00004
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=) rs191305900 0.00004
NM_001111125.3(IQSEC2):c.3318C>T (p.Ala1106=) rs781870523 0.00004
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001111125.3(IQSEC2):c.3502-19C>T rs782166410 0.00004
NM_001111125.3(IQSEC2):c.3837G>A (p.Pro1279=) rs1405620315 0.00004
NM_001111125.3(IQSEC2):c.3939C>T (p.Ala1313=) rs1473963072 0.00004
NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=) rs1057521782 0.00004
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=) rs374511542 0.00003
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys) rs1556863213 0.00003
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=) rs782547252 0.00003
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn) rs782244422 0.00003
NM_001111125.3(IQSEC2):c.2297+13C>T rs782625023 0.00003
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu) rs1057518272 0.00003
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=) rs1556880350 0.00003
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=) rs1167090163 0.00003
NM_001111125.3(IQSEC2):c.2534G>A (p.Arg845Gln) rs1556862441 0.00003
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=) rs377545286 0.00003
NM_001111125.3(IQSEC2):c.2889+10T>C rs1057523665 0.00003
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=) rs199643273 0.00003
NM_001111125.3(IQSEC2):c.3501+7G>T rs1221336765 0.00003
NM_001111125.3(IQSEC2):c.3592G>A (p.Val1198Ile) rs1193003776 0.00003
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 0.00003
NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=) rs1057523277 0.00003
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr) rs1057521942 0.00003
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln) rs1449945045 0.00003
NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr) rs1085307636 0.00003
NM_001111125.3(IQSEC2):c.4288C>A (p.Pro1430Thr) rs1232612010 0.00003
NM_001111125.3(IQSEC2):c.531G>C (p.Pro177=) rs1198105155 0.00003
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) rs886044891 0.00003
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn) rs1470379713 0.00003
NM_001111125.3(IQSEC2):c.957A>G (p.Leu319=) rs782803496 0.00003
NM_001111125.3(IQSEC2):c.1401+3C>A rs377593679 0.00002
NM_001111125.3(IQSEC2):c.1426G>A (p.Asp476Asn) rs200182557 0.00002
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln) rs202076203 0.00002
NM_001111125.3(IQSEC2):c.1609C>A (p.Pro537Thr) rs1389197755 0.00002
NM_001111125.3(IQSEC2):c.1657C>T (p.Pro553Ser) rs781876521 0.00002
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781 0.00002
NM_001111125.3(IQSEC2):c.2064C>T (p.Gly688=) rs782766118 0.00002
NM_001111125.3(IQSEC2):c.2088C>T (p.Asn696=) rs1405711349 0.00002
NM_001111125.3(IQSEC2):c.2139C>T (p.Ser713=) rs782507169 0.00002
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu) rs782745696 0.00002
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=) rs781979737 0.00002
NM_001111125.3(IQSEC2):c.2181C>T (p.Thr727=) rs782731808 0.00002
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=) rs1556880357 0.00002
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) rs192071369 0.00002
NM_001111125.3(IQSEC2):c.2334G>A (p.Arg778=) rs782564038 0.00002
NM_001111125.3(IQSEC2):c.2355G>A (p.Pro785=) rs1327209801 0.00002
NM_001111125.3(IQSEC2):c.2459+3G>A rs1204856744 0.00002
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile) rs1461166570 0.00002
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372 0.00002
NM_001111125.3(IQSEC2):c.2811G>A (p.Gln937=) rs781835138 0.00002
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414 0.00002
NM_001111125.3(IQSEC2):c.2867G>A (p.Arg956His) rs1556861319 0.00002
NM_001111125.3(IQSEC2):c.294C>T (p.His98=) rs1556880235 0.00002
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln) rs782632137 0.00002
NM_001111125.3(IQSEC2):c.3278-13G>C rs782674949 0.00002
NM_001111125.3(IQSEC2):c.3278-14C>T rs782292524 0.00002
NM_001111125.3(IQSEC2):c.3307C>T (p.Arg1103Trp) rs868950692 0.00002
NM_001111125.3(IQSEC2):c.3326C>T (p.Pro1109Leu) rs1556859714 0.00002
NM_001111125.3(IQSEC2):c.3357G>A (p.Thr1119=) rs1041874158 0.00002
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=) rs374220843 0.00002
NM_001111125.3(IQSEC2):c.3415G>A (p.Ala1139Thr) rs1426916903 0.00002
NM_001111125.3(IQSEC2):c.3451+18C>T rs782065826 0.00002
NM_001111125.3(IQSEC2):c.3486G>A (p.Leu1162=) rs1490274246 0.00002
NM_001111125.3(IQSEC2):c.3502-15C>T rs1299191132 0.00002
NM_001111125.3(IQSEC2):c.3502-3C>T rs782720064 0.00002
NM_001111125.3(IQSEC2):c.3668C>T (p.Pro1223Leu) rs1161354303 0.00002
NM_001111125.3(IQSEC2):c.3696T>G (p.Ser1232=) rs1556859248 0.00002
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr) rs1290683569 0.00002
NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu) rs1414926823 0.00002
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) rs782559635 0.00002
NM_001111125.3(IQSEC2):c.3930C>T (p.Pro1310=) rs913156254 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001111125.3(IQSEC2):c.4073G>A (p.Arg1358His) rs782285127 0.00002
NM_001111125.3(IQSEC2):c.4197A>G (p.Ala1399=) rs1425766090 0.00002
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu) rs1556858927 0.00002
NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met) rs1064796639 0.00002
NM_001111125.3(IQSEC2):c.446C>T (p.Ala149Val) rs1556880136 0.00002
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314 0.00002
NM_001111125.3(IQSEC2):c.699C>G (p.Leu233=) rs1411580863 0.00002
NM_001111125.3(IQSEC2):c.708-3C>T rs781873807 0.00002
NM_001111125.3(IQSEC2):c.746G>C (p.Gly249Ala) rs1556865202 0.00002
NM_001111125.3(IQSEC2):c.909C>T (p.Val303=) rs781821475 0.00002
NM_001111125.3(IQSEC2):c.1009C>T (p.Leu337=) rs781797392 0.00001
NM_001111125.3(IQSEC2):c.1026G>A (p.Gly342=) rs782092090 0.00001
NM_001111125.3(IQSEC2):c.1036C>T (p.Leu346=) rs2074443904 0.00001
NM_001111125.3(IQSEC2):c.1168A>C (p.Met390Leu) rs1556864672 0.00001
NM_001111125.3(IQSEC2):c.1188G>A (p.Glu396=) rs782503727 0.00001
NM_001111125.3(IQSEC2):c.1236G>A (p.Ser412=) rs782420377 0.00001
NM_001111125.3(IQSEC2):c.125G>A (p.Arg42Gln) rs1397379867 0.00001
NM_001111125.3(IQSEC2):c.1265G>A (p.Arg422Gln) rs782441771 0.00001
NM_001111125.3(IQSEC2):c.1275G>A (p.Arg425=) rs782511486 0.00001
NM_001111125.3(IQSEC2):c.1286G>A (p.Gly429Glu) rs936261583 0.00001
NM_001111125.3(IQSEC2):c.1339G>A (p.Val447Ile) rs1556864546 0.00001
NM_001111125.3(IQSEC2):c.1341C>T (p.Val447=) rs1361283835 0.00001
NM_001111125.3(IQSEC2):c.1374A>G (p.Thr458=) rs781998777 0.00001
NM_001111125.3(IQSEC2):c.1428C>T (p.Asp476=) rs781915467 0.00001
NM_001111125.3(IQSEC2):c.1485G>T (p.Gln495His) rs370228504 0.00001
NM_001111125.3(IQSEC2):c.158A>G (p.Gln53Arg) rs1158391435 0.00001
NM_001111125.3(IQSEC2):c.1620G>A (p.Gln540=) rs376149648 0.00001
NM_001111125.3(IQSEC2):c.1629C>T (p.Pro543=) rs2074379481 0.00001
NM_001111125.3(IQSEC2):c.1653C>T (p.Leu551=) rs782763345 0.00001
NM_001111125.3(IQSEC2):c.1655C>T (p.Pro552Leu) rs1296515292 0.00001
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=) rs200411197 0.00001
NM_001111125.3(IQSEC2):c.16G>C (p.Gly6Arg) rs1556880366 0.00001
NM_001111125.3(IQSEC2):c.1729G>A (p.Gly577Arg) rs782585718 0.00001
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln) rs369172518 0.00001
NM_001111125.3(IQSEC2):c.189G>A (p.Glu63=) rs1365066616 0.00001
NM_001111125.3(IQSEC2):c.1944C>T (p.Tyr648=) rs781942714 0.00001
NM_001111125.3(IQSEC2):c.2000A>G (p.Asn667Ser) rs782321409 0.00001
NM_001111125.3(IQSEC2):c.2046G>A (p.Gly682=) rs782567023 0.00001
NM_001111125.3(IQSEC2):c.2231C>T (p.Ser744Leu) rs781930433 0.00001
NM_001111125.3(IQSEC2):c.2238T>C (p.Ala746=) rs2074366023 0.00001
NM_001111125.3(IQSEC2):c.2316C>T (p.Ile772=) rs1337229168 0.00001
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=) rs781978108 0.00001
NM_001111125.3(IQSEC2):c.234C>G (p.Gly78=) rs943476072 0.00001
NM_001111125.3(IQSEC2):c.2455T>C (p.Leu819=) rs1323515165 0.00001
NM_001111125.3(IQSEC2):c.2459+16T>C rs1204868242 0.00001
NM_001111125.3(IQSEC2):c.2459+19G>A rs1057522303 0.00001
NM_001111125.3(IQSEC2):c.2583-10T>C rs993459100 0.00001
NM_001111125.3(IQSEC2):c.2592C>T (p.Tyr864=) rs1556862204 0.00001
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His) rs370830356 0.00001
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln) rs376739885 0.00001
NM_001111125.3(IQSEC2):c.2694C>T (p.Pro898=) rs2074317558 0.00001
NM_001111125.3(IQSEC2):c.2775C>T (p.Pro925=) rs371055459 0.00001
NM_001111125.3(IQSEC2):c.2940G>A (p.Glu980=) rs1052517256 0.00001
NM_001111125.3(IQSEC2):c.3015+13T>G rs782124794 0.00001
NM_001111125.3(IQSEC2):c.3018C>A (p.Val1006=) rs781902812 0.00001
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=) rs781862515 0.00001
NM_001111125.3(IQSEC2):c.3166A>G (p.Lys1056Glu) rs973062974 0.00001
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys) rs782569979 0.00001
NM_001111125.3(IQSEC2):c.3231C>T (p.Arg1077=) rs781899074 0.00001
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=) rs782437696 0.00001
NM_001111125.3(IQSEC2):c.3249G>A (p.Val1083=) rs375024113 0.00001
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) rs782624844 0.00001
NM_001111125.3(IQSEC2):c.3380A>T (p.Asp1127Val) rs144128848 0.00001
NM_001111125.3(IQSEC2):c.3390G>A (p.Gly1130=) rs781835382 0.00001
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=) rs782725826 0.00001
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn) rs1556859667 0.00001
NM_001111125.3(IQSEC2):c.3439C>A (p.Leu1147Ile) rs2074129057 0.00001
NM_001111125.3(IQSEC2):c.3451+17C>T rs1057522236 0.00001
NM_001111125.3(IQSEC2):c.345C>G (p.Gly115=) rs1438347773 0.00001
NM_001111125.3(IQSEC2):c.3501+9C>T rs1267607124 0.00001
NM_001111125.3(IQSEC2):c.3502-8G>A rs781808329 0.00001
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) rs1300877733 0.00001
NM_001111125.3(IQSEC2):c.3563C>T (p.Pro1188Leu) rs1556859319 0.00001
NM_001111125.3(IQSEC2):c.363C>T (p.Gly121=) rs1178634147 0.00001
NM_001111125.3(IQSEC2):c.380A>G (p.Glu127Gly) rs933120152 0.00001
NM_001111125.3(IQSEC2):c.381G>A (p.Glu127=) rs1556880187 0.00001
NM_001111125.3(IQSEC2):c.3843C>T (p.Pro1281=) rs1352308032 0.00001
NM_001111125.3(IQSEC2):c.3846C>T (p.Tyr1282=) rs1556859158 0.00001
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met) rs1347714754 0.00001
NM_001111125.3(IQSEC2):c.396C>T (p.Asp132=) rs1556880172 0.00001
NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=) rs1556859096 0.00001
NM_001111125.3(IQSEC2):c.4033C>T (p.Arg1345Trp) rs1333401052 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001111125.3(IQSEC2):c.463G>T (p.Ala155Ser) rs1556880128 0.00001
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val) rs1321322513 0.00001
NM_001111125.3(IQSEC2):c.566C>T (p.Ser189Leu) rs1474659446 0.00001
NM_001111125.3(IQSEC2):c.597G>A (p.Pro199=) rs1282192716 0.00001
NM_001111125.3(IQSEC2):c.639C>T (p.Ser213=) rs2075418300 0.00001
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=) rs782083256 0.00001
NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=) rs782524925 0.00001
NM_001111125.3(IQSEC2):c.708-6T>C rs782195025 0.00001
NM_001111125.3(IQSEC2):c.730A>G (p.Thr244Ala) rs1556873118 0.00001
NM_001111125.3(IQSEC2):c.738-7C>T rs1556865215 0.00001
NM_001111125.3(IQSEC2):c.766C>T (p.Leu256=) rs781919609 0.00001
NM_001111125.3(IQSEC2):c.777G>A (p.Ala259=) rs923484172 0.00001
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg) rs368559547 0.00001
NM_001111125.3(IQSEC2):c.809G>A (p.Arg270Gln) rs782463684 0.00001
NM_001111125.3(IQSEC2):c.826C>A (p.Pro276Thr) rs1556865113 0.00001
NM_001111125.3(IQSEC2):c.885G>C (p.Arg295=) rs782699475 0.00001
NM_001111125.3(IQSEC2):c.903C>G (p.Ala301=) rs782488348 0.00001
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) rs1419492759 0.00001
NM_001111125.3(IQSEC2):c.991G>A (p.Asp331Asn) rs1556864973 0.00001
NC_000023.10:g.(?_53263401)_(53280376_?)del
NC_000023.10:g.(?_53270946)_(53271111_?)del
NC_000023.10:g.(?_53279441)_(53280376_?)del
NC_000023.10:g.(?_53349605)_(53350321_?)dup
NC_000023.11:g.53254331_53296102dup
NM_001111125.3(IQSEC2):c.1000-10T>C rs2147123327
NM_001111125.3(IQSEC2):c.1000-12del
NM_001111125.3(IQSEC2):c.1000-17C>G
NM_001111125.3(IQSEC2):c.1000-6_1001dup
NM_001111125.3(IQSEC2):c.1000-9C>T rs1556864744
NM_001111125.3(IQSEC2):c.1008G>C (p.Met336Ile) rs2074444300
NM_001111125.3(IQSEC2):c.1008G>T (p.Met336Ile) rs2074444300
NM_001111125.3(IQSEC2):c.1042C>T (p.Arg348Cys) rs2074443830
NM_001111125.3(IQSEC2):c.1048del (p.Ala350fs) rs2074443766
NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)
NM_001111125.3(IQSEC2):c.1054A>G (p.Arg352Gly)
NM_001111125.3(IQSEC2):c.1059C>G (p.Thr353=) rs2147123040
NM_001111125.3(IQSEC2):c.1066_1069del (p.Thr356fs)
NM_001111125.3(IQSEC2):c.106C>T (p.Leu36=) rs2146552909
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) rs267607188
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs) rs1602291861
NM_001111125.3(IQSEC2):c.1089G>A (p.Met363Ile) rs2147122803
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=) rs1602383725
NM_001111125.3(IQSEC2):c.1105C>A (p.Arg369=)
NM_001111125.3(IQSEC2):c.1110A>C (p.Leu370=)
NM_001111125.3(IQSEC2):c.1115G>C (p.Ser372Thr) rs2074442571
NM_001111125.3(IQSEC2):c.1128G>A (p.Glu376=) rs2147122484
NM_001111125.3(IQSEC2):c.1147A>G (p.Ile383Val)
NM_001111125.3(IQSEC2):c.1158C>T (p.Ser386=)
NM_001111125.3(IQSEC2):c.1171C>A (p.Gln391Lys) rs2074441863
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter) rs1602291658
NM_001111125.3(IQSEC2):c.1194G>A (p.Glu398=)
NM_001111125.3(IQSEC2):c.1218C>T (p.Phe406=)
NM_001111125.3(IQSEC2):c.1219G>A (p.Glu407Lys)
NM_001111125.3(IQSEC2):c.1230T>C (p.Pro410=) rs2147121849
NM_001111125.3(IQSEC2):c.1250C>A (p.Ala417Asp)
NM_001111125.3(IQSEC2):c.1254G>A (p.Met418Ile)
NM_001111125.3(IQSEC2):c.1264C>T (p.Arg422Trp)
NM_001111125.3(IQSEC2):c.1274G>A (p.Arg425Gln) rs2074439744
NM_001111125.3(IQSEC2):c.1296T>G (p.Tyr432Ter) rs2147121012
NM_001111125.3(IQSEC2):c.1313G>A (p.Gly438Glu)
NM_001111125.3(IQSEC2):c.132C>T (p.Ile44=) rs1556880287
NM_001111125.3(IQSEC2):c.1343C>T (p.Thr448Ile)
NM_001111125.3(IQSEC2):c.136G>A (p.Glu46Lys) rs2075426999
NM_001111125.3(IQSEC2):c.1385A>G (p.Asp462Gly)
NM_001111125.3(IQSEC2):c.1391_1393del (p.Phe464del) rs2074437084
NM_001111125.3(IQSEC2):c.1398A>T (p.Lys466Asn)
NM_001111125.3(IQSEC2):c.1401+2T>A
NM_001111125.3(IQSEC2):c.1401+4A>G rs1556864509
NM_001111125.3(IQSEC2):c.1401+8T>C
NM_001111125.3(IQSEC2):c.1402-10C>A rs183644900
NM_001111125.3(IQSEC2):c.1402-10C>G rs183644900
NM_001111125.3(IQSEC2):c.1402-11C>A rs187186062
NM_001111125.3(IQSEC2):c.1402-11C>G rs187186062
NM_001111125.3(IQSEC2):c.1402-11C>T
NM_001111125.3(IQSEC2):c.1402-124_1533del
NM_001111125.3(IQSEC2):c.1402-12C>G
NM_001111125.3(IQSEC2):c.1402-14C>T rs2147105052
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.1402-18C>T
NM_001111125.3(IQSEC2):c.1402-3C>G rs2074385671
NM_001111125.3(IQSEC2):c.1402-9del rs781861463
NM_001111125.3(IQSEC2):c.1402G>A (p.Val468Ile)
NM_001111125.3(IQSEC2):c.1402G>C (p.Val468Leu)
NM_001111125.3(IQSEC2):c.1415C>A (p.Ala472Asp)
NM_001111125.3(IQSEC2):c.1422C>T (p.Ser474=) rs2147104494
NM_001111125.3(IQSEC2):c.1429G>A (p.Glu477Lys) rs2147104281
NM_001111125.3(IQSEC2):c.1429G>T (p.Glu477Ter)
NM_001111125.3(IQSEC2):c.1436_1603del (p.Leu479_Thr535delinsPro) rs1556863457
NM_001111125.3(IQSEC2):c.1448C>T (p.Pro483Leu)
NM_001111125.3(IQSEC2):c.1454G>A (p.Gly485Glu)
NM_001111125.3(IQSEC2):c.145G>A (p.Gly49Ser) rs2146552703
NM_001111125.3(IQSEC2):c.1463C>G (p.Ser488Cys)
NM_001111125.3(IQSEC2):c.1468G>C (p.Glu490Gln)
NM_001111125.3(IQSEC2):c.1469A>G (p.Glu490Gly) rs782279475
NM_001111125.3(IQSEC2):c.1474G>A (p.Gly492Arg) rs2074383866
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter) rs2147103761
NM_001111125.3(IQSEC2):c.1485G>A (p.Gln495=)
NM_001111125.3(IQSEC2):c.1496G>A (p.Arg499Gln) rs782243346
NM_001111125.3(IQSEC2):c.1498G>T (p.Glu500Ter)
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
NM_001111125.3(IQSEC2):c.1512G>A (p.Gln504=)
NM_001111125.3(IQSEC2):c.1513C>T (p.Gln505Ter)
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs) rs2074383129
NM_001111125.3(IQSEC2):c.1518G>A (p.Glu506=) rs2147103383
NM_001111125.3(IQSEC2):c.151C>G (p.Leu51Val)
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs) rs1556863492
NM_001111125.3(IQSEC2):c.1554C>G (p.Leu518=) rs782768601
NM_001111125.3(IQSEC2):c.1557C>T (p.Tyr519=)
NM_001111125.3(IQSEC2):c.1561G>A (p.Asp521Asn)
NM_001111125.3(IQSEC2):c.1576C>T (p.Gln526Ter)
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter) rs1569302816
NM_001111125.3(IQSEC2):c.157C>T (p.Gln53Ter)
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs) rs2074381038
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1592G>A (p.Arg531Gln) rs149027201
NM_001111125.3(IQSEC2):c.1603A>C (p.Thr535Pro)
NM_001111125.3(IQSEC2):c.1611C>G (p.Pro537=)
NM_001111125.3(IQSEC2):c.1613C>T (p.Pro538Leu) rs2147102395
NM_001111125.3(IQSEC2):c.1615C>T (p.Pro539Ser)
NM_001111125.3(IQSEC2):c.1616C>G (p.Pro539Arg) rs2147102337
NM_001111125.3(IQSEC2):c.1616C>T (p.Pro539Leu)
NM_001111125.3(IQSEC2):c.1624C>T (p.Arg542Trp)
NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu) rs782420335
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs) rs1556863435
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter) rs2074379209
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs) rs1556863398
NM_001111125.3(IQSEC2):c.1654C>A (p.Pro552Thr) rs1064797066
NM_001111125.3(IQSEC2):c.1655_1667dup (p.Pro557fs)
NM_001111125.3(IQSEC2):c.1658C>A (p.Pro553Gln) rs782165719
NM_001111125.3(IQSEC2):c.1668A>G (p.Pro556=)
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala) rs1556863347
NM_001111125.3(IQSEC2):c.1672G>C (p.Val558Leu) rs2074377782
NM_001111125.3(IQSEC2):c.1676C>T (p.Pro559Leu) rs2074377574
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) rs1556863340
NM_001111125.3(IQSEC2):c.1684A>G (p.Thr562Ala) rs1556863333
NM_001111125.3(IQSEC2):c.1685C>T (p.Thr562Ile) rs2074377330
NM_001111125.3(IQSEC2):c.1688G>A (p.Arg563Gln) rs1556863321
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
NM_001111125.3(IQSEC2):c.1702C>T (p.Arg568Cys)
NM_001111125.3(IQSEC2):c.1712G>A (p.Gly571Asp) rs1569302404
NM_001111125.3(IQSEC2):c.1712G>T (p.Gly571Val)
NM_001111125.3(IQSEC2):c.1721G>A (p.Arg574Lys)
NM_001111125.3(IQSEC2):c.1728C>T (p.Pro576=)
NM_001111125.3(IQSEC2):c.1731G>A (p.Gly577=)
NM_001111125.3(IQSEC2):c.173A>G (p.Asn58Ser)
NM_001111125.3(IQSEC2):c.1744C>T (p.Arg582Trp) rs1064797067
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln) rs2074375518
NM_001111125.3(IQSEC2):c.1760G>A (p.Arg587Gln)
NM_001111125.3(IQSEC2):c.1764T>C (p.Ala588=)
NM_001111125.3(IQSEC2):c.1788T>C (p.Ile596=) rs2147100123
NM_001111125.3(IQSEC2):c.1791G>A (p.Glu597=) rs1319710513
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=) rs1602283885
NM_001111125.3(IQSEC2):c.1812G>C (p.Val604=) rs2147099994
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs) rs2074374579
NM_001111125.3(IQSEC2):c.1825C>T (p.Arg609Cys) rs1085307736
NM_001111125.3(IQSEC2):c.1835G>A (p.Arg612His)
NM_001111125.3(IQSEC2):c.1836C>T (p.Arg612=)
NM_001111125.3(IQSEC2):c.1848C>T (p.His616=)
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs) rs2074373583
NM_001111125.3(IQSEC2):c.1850G>A (p.Arg617His)
NM_001111125.3(IQSEC2):c.1868C>T (p.Ala623Val)
NM_001111125.3(IQSEC2):c.1869T>G (p.Ala623=)
NM_001111125.3(IQSEC2):c.1872T>C (p.Asp624=)
NM_001111125.3(IQSEC2):c.1878C>T (p.Cys626=)
NM_001111125.3(IQSEC2):c.187G>A (p.Glu63Lys)
NM_001111125.3(IQSEC2):c.1884C>T (p.Pro628=)
NM_001111125.3(IQSEC2):c.1886A>G (p.His629Arg) rs2074372604
NM_001111125.3(IQSEC2):c.1892C>T (p.Thr631Ile)
NM_001111125.3(IQSEC2):c.1893C>A (p.Thr631=)
NM_001111125.3(IQSEC2):c.1907G>T (p.Gly636Val) rs2074372213
NM_001111125.3(IQSEC2):c.1911A>C (p.Pro637=)
NM_001111125.3(IQSEC2):c.1925C>T (p.Pro642Leu)
NM_001111125.3(IQSEC2):c.1925del (p.Pro642fs) rs1556863165
NM_001111125.3(IQSEC2):c.1936C>T (p.Arg646Cys)
NM_001111125.3(IQSEC2):c.1937G>A (p.Arg646His)
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs) rs1602283534
NM_001111125.3(IQSEC2):c.1981C>T (p.Pro661Ser)
NM_001111125.3(IQSEC2):c.1983C>G (p.Pro661=)
NM_001111125.3(IQSEC2):c.1984C>T (p.Leu662=)
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val) rs1602283451
NM_001111125.3(IQSEC2):c.1997C>T (p.Pro666Leu)
NM_001111125.3(IQSEC2):c.19C>T (p.Pro7Ser) rs2075428522
NM_001111125.3(IQSEC2):c.2008A>G (p.Thr670Ala)
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs) rs2074369642
NM_001111125.3(IQSEC2):c.2032G>A (p.Gly678Ser)
NM_001111125.3(IQSEC2):c.2035C>T (p.Arg679Trp) rs2147098048
NM_001111125.3(IQSEC2):c.2036G>A (p.Arg679Gln)
NM_001111125.3(IQSEC2):c.2036G>T (p.Arg679Leu) rs1345618130
NM_001111125.3(IQSEC2):c.2041T>C (p.Leu681=) rs1556863072
NM_001111125.3(IQSEC2):c.2064C>A (p.Gly688=) rs782766118
NM_001111125.3(IQSEC2):c.2103C>T (p.Ser701=) rs2147097639
NM_001111125.3(IQSEC2):c.2106C>T (p.Ser702=)
NM_001111125.3(IQSEC2):c.2117A>G (p.Asn706Ser)
NM_001111125.3(IQSEC2):c.2127C>T (p.Ile709=) rs1556863038
NM_001111125.3(IQSEC2):c.213G>A (p.Glu71=) rs2146552192
NM_001111125.3(IQSEC2):c.2147C>T (p.Ser716Phe)
NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)
NM_001111125.3(IQSEC2):c.2182G>A (p.Gly728Ser)
NM_001111125.3(IQSEC2):c.2220T>C (p.His740=)
NM_001111125.3(IQSEC2):c.2221A>T (p.Ser741Cys) rs2147096800
NM_001111125.3(IQSEC2):c.2225G>A (p.Trp742Ter) rs2147096776
NM_001111125.3(IQSEC2):c.2241C>T (p.Phe747=)
NM_001111125.3(IQSEC2):c.225C>A (p.Asp75Glu) rs2075425330
NM_001111125.3(IQSEC2):c.2261G>A (p.Arg754Lys) rs2147096443
NM_001111125.3(IQSEC2):c.2265G>T (p.Arg755=)
NM_001111125.3(IQSEC2):c.226C>T (p.Pro76Ser)
NM_001111125.3(IQSEC2):c.2271C>T (p.Tyr757=) rs1556862965
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) rs267607189
NM_001111125.3(IQSEC2):c.2278G>C (p.Gly760Arg)
NM_001111125.3(IQSEC2):c.2279G>A (p.Gly760Asp)
NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)
NM_001111125.3(IQSEC2):c.2297+2T>C rs2147096217
NM_001111125.3(IQSEC2):c.2297+7G>A rs1556862951
NM_001111125.3(IQSEC2):c.2298G>A (p.Lys766=)
NM_001111125.3(IQSEC2):c.2304A>G (p.Pro768=)
NM_001111125.3(IQSEC2):c.2305G>T (p.Glu769Ter) rs2147089995
NM_001111125.3(IQSEC2):c.2319G>A (p.Gln773=)
NM_001111125.3(IQSEC2):c.2323C>G (p.Leu775Val)
NM_001111125.3(IQSEC2):c.2323C>T (p.Leu775=) rs1569300762
NM_001111125.3(IQSEC2):c.2329G>C (p.Glu777Gln)
NM_001111125.3(IQSEC2):c.2336_2337del (p.Gly779fs) rs2147089642
NM_001111125.3(IQSEC2):c.2342T>C (p.Leu781Pro) rs2074344245
NM_001111125.3(IQSEC2):c.2346A>G (p.Ser782=)
NM_001111125.3(IQSEC2):c.2352_2353del (p.Pro785fs)
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val) rs875989799
NM_001111125.3(IQSEC2):c.2378T>C (p.Leu793Pro)
NM_001111125.3(IQSEC2):c.2380G>T (p.Glu794Ter) rs1569300687
NM_001111125.3(IQSEC2):c.2383C>T (p.Arg795Trp)
NM_001111125.3(IQSEC2):c.2384G>A (p.Arg795Gln) rs2147089214
NM_001111125.3(IQSEC2):c.239G>A (p.Arg80Gln)
NM_001111125.3(IQSEC2):c.23C>G (p.Pro8Arg) rs1556880353
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro) rs267607187
NM_001111125.3(IQSEC2):c.2420dup (p.Gly808fs)
NM_001111125.3(IQSEC2):c.2422G>A (p.Gly808Arg)
NM_001111125.3(IQSEC2):c.2459+8C>A rs1485084441
NM_001111125.3(IQSEC2):c.2460-15T>C
NM_001111125.3(IQSEC2):c.2460-2A>G rs1602279457
NM_001111125.3(IQSEC2):c.2467G>C (p.Val823Leu)
NM_001111125.3(IQSEC2):c.2469G>A (p.Val823=)
NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr) rs1060499660
NM_001111125.3(IQSEC2):c.2491A>G (p.Met831Val)
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2508G>T (p.Ala836=) rs2274308
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser) rs2074335877
NM_001111125.3(IQSEC2):c.2525C>G (p.Ser842Cys) rs2074335826
NM_001111125.3(IQSEC2):c.2529T>C (p.His843=) rs2147086012
NM_001111125.3(IQSEC2):c.2531T>A (p.Ile844Asn)
NM_001111125.3(IQSEC2):c.2539C>A (p.Gln847Lys)
NM_001111125.3(IQSEC2):c.254G>A (p.Arg85His) rs1556880243
NM_001111125.3(IQSEC2):c.2551C>T (p.Gln851Ter)
NM_001111125.3(IQSEC2):c.2562G>A (p.Glu854=)
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2571C>T (p.Ile857=)
NM_001111125.3(IQSEC2):c.2576C>A (p.Ala859Asp) rs2074335191
NM_001111125.3(IQSEC2):c.2582+19_2582+29delinsGTGTGCTGGACCCTTCAGTGACTGTGACTAAGCTCTTTCTAGGTGCCTGGTCTTCTGCCAGGTG rs2147085327
NM_001111125.3(IQSEC2):c.2582+1del rs2074335019
NM_001111125.3(IQSEC2):c.2582+20G>A
NM_001111125.3(IQSEC2):c.2582+2T>C rs1569300277
NM_001111125.3(IQSEC2):c.2582+3G>T rs782493529
NM_001111125.3(IQSEC2):c.2582+4T>G
NM_001111125.3(IQSEC2):c.2583-14dup
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001111125.3(IQSEC2):c.258G>A (p.Glu86=)
NM_001111125.3(IQSEC2):c.2596G>A (p.Val866Ile)
NM_001111125.3(IQSEC2):c.2617C>A (p.Arg873Ser) rs782383669
NM_001111125.3(IQSEC2):c.2618G>C (p.Arg873Pro)
NM_001111125.3(IQSEC2):c.2621A>G (p.Gln874Arg)
NM_001111125.3(IQSEC2):c.2631C>T (p.Asn877=)
NM_001111125.3(IQSEC2):c.2648T>C (p.Ile883Thr)
NM_001111125.3(IQSEC2):c.2652T>C (p.Leu884=)
NM_001111125.3(IQSEC2):c.2667C>T (p.Ile889=) rs2147080648
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=) rs2074317922
NM_001111125.3(IQSEC2):c.2679C>G (p.Thr893=) rs782193796
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn) rs1602277527
NM_001111125.3(IQSEC2):c.2684T>C (p.Met895Thr) rs2147080510
NM_001111125.3(IQSEC2):c.2684dup (p.Met895fs)
NM_001111125.3(IQSEC2):c.2697C>T (p.Ser899=) rs1602277510
NM_001111125.3(IQSEC2):c.2707G>C (p.Glu903Gln) rs2074317421
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) rs2074317360
NM_001111125.3(IQSEC2):c.2727T>C (p.Asp909=) rs2147080245
NM_001111125.3(IQSEC2):c.2749G>A (p.Gly917Arg) rs2147080183
NM_001111125.3(IQSEC2):c.2750-7C>T rs1602271589
NM_001111125.3(IQSEC2):c.2750-9C>T rs1556861395
NM_001111125.3(IQSEC2):c.2750G>A (p.Gly917Glu)
NM_001111125.3(IQSEC2):c.2750G>C (p.Gly917Ala)
NM_001111125.3(IQSEC2):c.2758A>G (p.Asn920Asp)
NM_001111125.3(IQSEC2):c.2760T>C (p.Asn920=)
NM_001111125.3(IQSEC2):c.2770A>G (p.Ile924Val) rs2147060656
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.2781CCT[1] (p.Leu929del) rs1602271471
NM_001111125.3(IQSEC2):c.2794A>G (p.Ile932Val)
NM_001111125.3(IQSEC2):c.279C>T (p.Arg93=)
NM_001111125.3(IQSEC2):c.27C>T (p.Gly9=)
NM_001111125.3(IQSEC2):c.2819_2823dup (p.Arg942fs) rs2074254630
NM_001111125.3(IQSEC2):c.2821C>T (p.Leu941=) rs2147060225
NM_001111125.3(IQSEC2):c.2828C>G (p.Thr943Ser)
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=) rs782519675
NM_001111125.3(IQSEC2):c.2833G>A (p.Asp945Asn)
NM_001111125.3(IQSEC2):c.2839C>T (p.His947Tyr)
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs) rs2147059978
NM_001111125.3(IQSEC2):c.2846C>T (p.Ser949Phe)
NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)
NM_001111125.3(IQSEC2):c.2853G>A (p.Val951=) rs1602271333
NM_001111125.3(IQSEC2):c.2857G>A (p.Ala953Thr) rs1556861324
NM_001111125.3(IQSEC2):c.2866C>T (p.Arg956Cys) rs2147059598
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu) rs2074253394
NM_001111125.3(IQSEC2):c.2869A>G (p.Met957Val) rs2074253394
NM_001111125.3(IQSEC2):c.2873T>C (p.Ile958Thr)
NM_001111125.3(IQSEC2):c.2889+12G>C
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2889+20G>T
NM_001111125.3(IQSEC2):c.288G>A (p.Gln96=) rs2146551593
NM_001111125.3(IQSEC2):c.2890-13C>T
NM_001111125.3(IQSEC2):c.2890-3T>G rs2147050192
NM_001111125.3(IQSEC2):c.2890-9C>T
NM_001111125.3(IQSEC2):c.2894T>C (p.Leu965Pro) rs1602268775
NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys) rs2074227300
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His) rs1556860937
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.291C>G (p.Phe97Leu)
NM_001111125.3(IQSEC2):c.2941G>T (p.Val981Leu)
NM_001111125.3(IQSEC2):c.2943G>A (p.Val981=)
NM_001111125.3(IQSEC2):c.2956C>T (p.Arg986Cys) rs1556860910
NM_001111125.3(IQSEC2):c.2977C>T (p.His993Tyr)
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
NM_001111125.3(IQSEC2):c.2991C>T (p.Val997=) rs2147049319
NM_001111125.3(IQSEC2):c.3002A>G (p.Asn1001Ser)
NM_001111125.3(IQSEC2):c.3003T>C (p.Asn1001=) rs2147049244
NM_001111125.3(IQSEC2):c.3005A>G (p.Asp1002Gly) rs2147049209
NM_001111125.3(IQSEC2):c.3015+14G>A
NM_001111125.3(IQSEC2):c.3015+15G>A
NM_001111125.3(IQSEC2):c.3015+3A>G
NM_001111125.3(IQSEC2):c.3016-1G>T
NM_001111125.3(IQSEC2):c.3016-9C>G rs1325334521
NM_001111125.3(IQSEC2):c.3016G>T (p.Val1006Phe) rs2147033257
NM_001111125.3(IQSEC2):c.301G>A (p.Glu101Lys)
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile) rs1602264353
NM_001111125.3(IQSEC2):c.3032AGA[3] (p.Lys1014del) rs1556860396
NM_001111125.3(IQSEC2):c.3038A>G (p.Lys1013Arg) rs2074181844
NM_001111125.3(IQSEC2):c.303G>A (p.Glu101=)
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) rs782748833
NM_001111125.3(IQSEC2):c.3054G>C (p.Thr1018=) rs782748833
NM_001111125.3(IQSEC2):c.3065G>A (p.Arg1022His)
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs) rs2074181394
NM_001111125.3(IQSEC2):c.306G>A (p.Leu102=)
NM_001111125.3(IQSEC2):c.3072T>C (p.Ser1024=) rs1602264305
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs) rs1602264294
NM_001111125.3(IQSEC2):c.3075C>T (p.Phe1025=) rs1602264279
NM_001111125.3(IQSEC2):c.3093C>T (p.His1031=)
NM_001111125.3(IQSEC2):c.3099G>A (p.Gln1033=)
NM_001111125.3(IQSEC2):c.3106C>T (p.Gln1036Ter) rs2147032671
NM_001111125.3(IQSEC2):c.3115+13T>C
NM_001111125.3(IQSEC2):c.3115T>A (p.Tyr1039Asn)
NM_001111125.3(IQSEC2):c.3116-3_3116-2del rs797045140
NM_001111125.3(IQSEC2):c.3116-6C>G
NM_001111125.3(IQSEC2):c.3139C>T (p.Leu1047=)
NM_001111125.3(IQSEC2):c.3151C>G (p.Pro1051Ala)
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter) rs2147027403
NM_001111125.3(IQSEC2):c.3164G>A (p.Arg1055Gln) rs1407117835
NM_001111125.3(IQSEC2):c.3188C>T (p.Ala1063Val) rs2074165930
NM_001111125.3(IQSEC2):c.318G>A (p.Gln106=) rs2146551348
NM_001111125.3(IQSEC2):c.3193A>G (p.Ser1065Gly) rs367700660
NM_001111125.3(IQSEC2):c.3201G>A (p.Gln1067=)
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro) rs782632137
NM_001111125.3(IQSEC2):c.3210G>A (p.Leu1070=)
NM_001111125.3(IQSEC2):c.3223G>A (p.Asp1075Asn) rs2074165173
NM_001111125.3(IQSEC2):c.3225C>G (p.Asp1075Glu)
NM_001111125.3(IQSEC2):c.3228G>A (p.Leu1076=) rs1284351565
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser) rs782569979
NM_001111125.3(IQSEC2):c.3237del (p.Ile1080fs) rs2147026571
NM_001111125.3(IQSEC2):c.3252G>A (p.Gln1084=)
NM_001111125.3(IQSEC2):c.3254del (p.Glu1085fs)
NM_001111125.3(IQSEC2):c.3269G>A (p.Arg1090His) rs2074164267
NM_001111125.3(IQSEC2):c.3278-10T>C rs2147015945
NM_001111125.3(IQSEC2):c.3278-13G>A
NM_001111125.3(IQSEC2):c.3278C>G (p.Ser1093Trp)
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3282G>A (p.Glu1094=) rs2147015788
NM_001111125.3(IQSEC2):c.3284_3310del (p.Leu1095_Arg1103del) rs2147015547
NM_001111125.3(IQSEC2):c.3296A>G (p.Lys1099Arg)
NM_001111125.3(IQSEC2):c.3301A>G (p.Met1101Val)
NM_001111125.3(IQSEC2):c.3304A>C (p.Met1102Leu)
NM_001111125.3(IQSEC2):c.3316G>A (p.Ala1106Thr) rs2074131912
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met) rs782558010
NM_001111125.3(IQSEC2):c.3361G>T (p.Ala1121Ser) rs2074131194
NM_001111125.3(IQSEC2):c.3362C>T (p.Ala1121Val) rs781964002
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His) rs868984872
NM_001111125.3(IQSEC2):c.3374T>G (p.Leu1125Arg)
NM_001111125.3(IQSEC2):c.3384_3385del (p.Tyr1129fs)
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3387C>G (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.340G>A (p.Val114Met) rs2075423571
NM_001111125.3(IQSEC2):c.3414C>A (p.Gly1138=)
NM_001111125.3(IQSEC2):c.3414C>T (p.Gly1138=)
NM_001111125.3(IQSEC2):c.3420C>A (p.Leu1140=) rs1602259971
NM_001111125.3(IQSEC2):c.3429C>T (p.Ser1143=) rs2147014056
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter) rs1556859652
NM_001111125.3(IQSEC2):c.3451+1G>C
NM_001111125.3(IQSEC2):c.3452-17C>T
NM_001111125.3(IQSEC2):c.3452-1G>A rs2147010401
NM_001111125.3(IQSEC2):c.3452-9T>C
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly) rs2074117985
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=) rs2147010150
NM_001111125.3(IQSEC2):c.3483G>A (p.Ser1161=) rs781859452
NM_001111125.3(IQSEC2):c.3502-12C>T
NM_001111125.3(IQSEC2):c.3502-14C>A
NM_001111125.3(IQSEC2):c.3502-15C>G
NM_001111125.3(IQSEC2):c.3502-19C>A rs782166410
NM_001111125.3(IQSEC2):c.3502-9C>T rs2074108627
NM_001111125.3(IQSEC2):c.3546T>G (p.Pro1182=) rs1602258133
NM_001111125.3(IQSEC2):c.3552C>G (p.Pro1184=) rs1556859344
NM_001111125.3(IQSEC2):c.3554C>G (p.Pro1185Arg) rs1556859338
NM_001111125.3(IQSEC2):c.3557C>G (p.Pro1186Arg)
NM_001111125.3(IQSEC2):c.355C>G (p.Arg119Gly) rs2075423381
NM_001111125.3(IQSEC2):c.3561G>C (p.Pro1187=) rs1286507586
NM_001111125.3(IQSEC2):c.356G>T (p.Arg119Leu) rs782770335
NM_001111125.3(IQSEC2):c.3570G>A (p.Glu1190=)
NM_001111125.3(IQSEC2):c.3573G>A (p.Glu1191=) rs1556859307
NM_001111125.3(IQSEC2):c.3591C>G (p.Pro1197=)
NM_001111125.3(IQSEC2):c.3591C>T (p.Pro1197=) rs909191485
NM_001111125.3(IQSEC2):c.3599A>G (p.Asn1200Ser)
NM_001111125.3(IQSEC2):c.3602C>T (p.Ser1201Phe) rs2147005416
NM_001111125.3(IQSEC2):c.3611_3791del (p.Phe1204fs) rs2147003883
NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)
NM_001111125.3(IQSEC2):c.3635A>G (p.Lys1212Arg)
NM_001111125.3(IQSEC2):c.3638G>C (p.Arg1213Pro) rs1556859281
NM_001111125.3(IQSEC2):c.3640G>A (p.Gly1214Ser)
NM_001111125.3(IQSEC2):c.3662C>A (p.Pro1221Gln)
NM_001111125.3(IQSEC2):c.3665C>T (p.Pro1222Leu) rs2074105508
NM_001111125.3(IQSEC2):c.3666A>G (p.Pro1222=) rs1602257857
NM_001111125.3(IQSEC2):c.3668C>A (p.Pro1223Gln)
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile) rs2147004930
NM_001111125.3(IQSEC2):c.3683C>T (p.Ala1228Val) rs2147004797
NM_001111125.3(IQSEC2):c.3687T>A (p.Ser1229=) rs1370477854
NM_001111125.3(IQSEC2):c.3693C>T (p.Ser1231=) rs782095203
NM_001111125.3(IQSEC2):c.3693_3698del (p.Ser1233_Ser1234del) rs782029247
NM_001111125.3(IQSEC2):c.3708T>C (p.Ser1236=)
NM_001111125.3(IQSEC2):c.3714G>A (p.Thr1238=) rs1355674546
NM_001111125.3(IQSEC2):c.3715C>T (p.His1239Tyr)
NM_001111125.3(IQSEC2):c.3717CCA[4] (p.His1245_His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3717CCA[6] (p.His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3717CCA[8] (p.His1247dup) rs782189881
NM_001111125.3(IQSEC2):c.3721C>T (p.His1241Tyr) rs2147004455
NM_001111125.3(IQSEC2):c.3723C>T (p.His1241=)
NM_001111125.3(IQSEC2):c.3732C>T (p.His1244=) rs932042983
NM_001111125.3(IQSEC2):c.373A>C (p.Asn125His)
NM_001111125.3(IQSEC2):c.3743G>A (p.Gly1248Asp)
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=) rs782399288
NM_001111125.3(IQSEC2):c.3769C>T (p.Leu1257=) rs2074102874
NM_001111125.3(IQSEC2):c.376C>A (p.Arg126=)
NM_001111125.3(IQSEC2):c.3781C>T (p.Gln1261Ter)
NM_001111125.3(IQSEC2):c.3792C>T (p.Leu1264=)
NM_001111125.3(IQSEC2):c.3798C>A (p.Ala1266=) rs2147003811
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) rs1569291699
NM_001111125.3(IQSEC2):c.3825G>C (p.Pro1275=) rs1057523277
NM_001111125.3(IQSEC2):c.3832G>A (p.Ala1278Thr) rs1602257496
NM_001111125.3(IQSEC2):c.3840A>T (p.Pro1280=)
NM_001111125.3(IQSEC2):c.384T>C (p.Ala128=)
NM_001111125.3(IQSEC2):c.3864C>G (p.Pro1288=)
NM_001111125.3(IQSEC2):c.3864C>T (p.Pro1288=)
NM_001111125.3(IQSEC2):c.3872C>T (p.Pro1291Leu)
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs) rs1569291627
NM_001111125.3(IQSEC2):c.3884A>T (p.Gln1295Leu)
NM_001111125.3(IQSEC2):c.3907C>T (p.Leu1303=)
NM_001111125.3(IQSEC2):c.3923C>T (p.Pro1308Leu) rs1260004392
NM_001111125.3(IQSEC2):c.3924G>A (p.Pro1308=) rs1460397663
NM_001111125.3(IQSEC2):c.392G>C (p.Arg131Pro) rs1556880174
NM_001111125.3(IQSEC2):c.3935C>T (p.Ser1312Leu) rs2074099302
NM_001111125.3(IQSEC2):c.3938C>T (p.Ala1313Val)
NM_001111125.3(IQSEC2):c.3944_3946del (p.Pro1315_Val1316delinsLeu) rs1569291523
NM_001111125.3(IQSEC2):c.3958C>T (p.Arg1320Cys) rs1556859104
NM_001111125.3(IQSEC2):c.3959G>A (p.Arg1320His) rs2074098874
NM_001111125.3(IQSEC2):c.3969C>T (p.His1323=)
NM_001111125.3(IQSEC2):c.3973dup (p.His1325fs)
NM_001111125.3(IQSEC2):c.397A>G (p.Lys133Glu)
NM_001111125.3(IQSEC2):c.4014G>T (p.Arg1338=)
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser) rs1602257111
NM_001111125.3(IQSEC2):c.4034G>A (p.Arg1345Gln) rs1359566569
NM_001111125.3(IQSEC2):c.4038G>A (p.Gly1346=) rs2074097744
NM_001111125.3(IQSEC2):c.4038_4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4041T>C (p.Ala1347=) rs2147002214
NM_001111125.3(IQSEC2):c.4044A>C (p.Gly1348=)
NM_001111125.3(IQSEC2):c.4051C>T (p.Pro1351Ser) rs1033962543
NM_001111125.3(IQSEC2):c.4056G>C (p.Gln1352His)
NM_001111125.3(IQSEC2):c.4081C>T (p.Leu1361=)
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) rs2074096700
NM_001111125.3(IQSEC2):c.4098C>G (p.Ser1366=) rs1200431219
NM_001111125.3(IQSEC2):c.409G>A (p.Ala137Thr) rs2146550740
NM_001111125.3(IQSEC2):c.4106C>T (p.Pro1369Leu)
NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=) rs1214109386
NM_001111125.3(IQSEC2):c.4115G>A (p.Ser1372Asn)
NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=) rs1602256870
NM_001111125.3(IQSEC2):c.4120G>A (p.Ala1374Thr) rs2074096260
NM_001111125.3(IQSEC2):c.4122C>A (p.Ala1374=) rs2147001768
NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)
NM_001111125.3(IQSEC2):c.4129C>T (p.His1377Tyr) rs1556859050
NM_001111125.3(IQSEC2):c.4136C>T (p.Pro1379Leu)
NM_001111125.3(IQSEC2):c.4138G>A (p.Ala1380Thr)
NM_001111125.3(IQSEC2):c.4145A>T (p.Lys1382Ile) rs2074095926
NM_001111125.3(IQSEC2):c.4151G>T (p.Gly1384Val)
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser) rs1556859040
NM_001111125.3(IQSEC2):c.4155T>C (p.Pro1385=) rs1602256804
NM_001111125.3(IQSEC2):c.4165A>G (p.Ile1389Val)
NM_001111125.3(IQSEC2):c.4185G>A (p.Gln1395=)
NM_001111125.3(IQSEC2):c.4200A>G (p.Ala1400=) rs1602256754
NM_001111125.3(IQSEC2):c.4203C>G (p.Gly1401=) rs1556859024
NM_001111125.3(IQSEC2):c.4203C>T (p.Gly1401=)
NM_001111125.3(IQSEC2):c.4205C>T (p.Ala1402Val)
NM_001111125.3(IQSEC2):c.4206G>C (p.Ala1402=) rs1057521782
NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs) rs2147001369
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His) rs1569291207
NM_001111125.3(IQSEC2):c.4220G>C (p.Gly1407Ala) rs2147001280
NM_001111125.3(IQSEC2):c.4224C>T (p.Ser1408=) rs1602256714
NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)
NM_001111125.3(IQSEC2):c.4228C>A (p.Pro1410Thr) rs2074094532
NM_001111125.3(IQSEC2):c.4233A>G (p.Pro1411=) rs1602256699
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=) rs1556859017
NM_001111125.3(IQSEC2):c.424C>T (p.Gln142Ter)
NM_001111125.3(IQSEC2):c.4252C>T (p.Pro1418Ser) rs1556859015
NM_001111125.3(IQSEC2):c.4256A>C (p.His1419Pro)
NM_001111125.3(IQSEC2):c.4264C>A (p.Gln1422Lys)
NM_001111125.3(IQSEC2):c.4281A>G (p.Pro1427=)
NM_001111125.3(IQSEC2):c.4284C>T (p.His1428=) rs2074093429
NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs) rs2147000837
NM_001111125.3(IQSEC2):c.428A>T (p.Asp143Val) rs2146550650
NM_001111125.3(IQSEC2):c.4296A>C (p.Pro1432=) rs868908850
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs) rs2074091750
NM_001111125.3(IQSEC2):c.4332C>A (p.Ser1444=) rs1556858979
NM_001111125.3(IQSEC2):c.4332C>T (p.Ser1444=)
NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs) rs2147000428
NM_001111125.3(IQSEC2):c.4335T>C (p.Pro1445=) rs1602256403
NM_001111125.3(IQSEC2):c.4344G>A (p.Pro1448=) rs868922938
NM_001111125.3(IQSEC2):c.4344G>T (p.Pro1448=)
NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)
NM_001111125.3(IQSEC2):c.434C>G (p.Thr145Ser) rs1308523144
NM_001111125.3(IQSEC2):c.4350A>G (p.Ser1450=)
NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=) rs1556858970
NM_001111125.3(IQSEC2):c.4356T>G (p.Leu1452=)
NM_001111125.3(IQSEC2):c.4362C>T (p.Pro1454=) rs1556858960
NM_001111125.3(IQSEC2):c.4380G>A (p.Pro1460=) rs1332852634
NM_001111125.3(IQSEC2):c.4384C>T (p.His1462Tyr)
NM_001111125.3(IQSEC2):c.438T>G (p.Gly146=) rs1556880144
NM_001111125.3(IQSEC2):c.4390T>C (p.Ser1464Pro) rs1602256252
NM_001111125.3(IQSEC2):c.4391C>G (p.Ser1464Cys) rs1556858946
NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs) rs2146999877
NM_001111125.3(IQSEC2):c.4407A>G (p.Thr1469=) rs1556858934
NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs) rs2146999914
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu) rs2146999756
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs) rs1556858912
NM_001111125.3(IQSEC2):c.4446C>T (p.Ser1482=)
NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)
NM_001111125.3(IQSEC2):c.4455C>T (p.Ser1485=)
NM_001111125.3(IQSEC2):c.4457C>T (p.Thr1486Ile) rs2146999666
NM_001111125.3(IQSEC2):c.447C>T (p.Ala149=)
NM_001111125.3(IQSEC2):c.448C>A (p.Arg150Ser)
NM_001111125.3(IQSEC2):c.44G>A (p.Ser15Asn)
NM_001111125.3(IQSEC2):c.454C>G (p.Arg152Gly) rs2075421810
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met) rs2075421767
NM_001111125.3(IQSEC2):c.487_531del (p.Asn163_Pro177del) rs2075420581
NM_001111125.3(IQSEC2):c.499G>A (p.Gly167Ser)
NM_001111125.3(IQSEC2):c.500G>A (p.Gly167Asp) rs2146550039
NM_001111125.3(IQSEC2):c.505G>C (p.Glu169Gln)
NM_001111125.3(IQSEC2):c.507G>A (p.Glu169=) rs1556880086
NM_001111125.3(IQSEC2):c.525C>T (p.Ala175=) rs2146549736
NM_001111125.3(IQSEC2):c.529C>A (p.Pro177Thr)
NM_001111125.3(IQSEC2):c.52C>T (p.Arg18Trp)
NM_001111125.3(IQSEC2):c.533C>T (p.Ala178Val)
NM_001111125.3(IQSEC2):c.539C>T (p.Pro180Leu)
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs) rs1602383045
NM_001111125.3(IQSEC2):c.547G>T (p.Glu183Ter)
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs) rs1556880284
NM_001111125.3(IQSEC2):c.573G>A (p.Ala191=) rs2146549172
NM_001111125.3(IQSEC2):c.573G>C (p.Ala191=) rs2146549172
NM_001111125.3(IQSEC2):c.57C>G (p.Ala19=) rs1432737111
NM_001111125.3(IQSEC2):c.586_707+728del rs2146544783
NM_001111125.3(IQSEC2):c.590G>T (p.Arg197Leu) rs2075419421
NM_001111125.3(IQSEC2):c.596C>A (p.Pro199Gln)
NM_001111125.3(IQSEC2):c.619C>A (p.Arg207Ser) rs1295281780
NM_001111125.3(IQSEC2):c.619C>T (p.Arg207Cys)
NM_001111125.3(IQSEC2):c.620G>A (p.Arg207His) rs1556879985
NM_001111125.3(IQSEC2):c.624C>A (p.Gly208=)
NM_001111125.3(IQSEC2):c.625_626delinsAT (p.Ala209Ile) rs2075418559
NM_001111125.3(IQSEC2):c.627del (p.Ser210fs) rs2146548468
NM_001111125.3(IQSEC2):c.628T>A (p.Ser210Thr)
NM_001111125.3(IQSEC2):c.641G>A (p.Ser214Asn)
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser) rs1037744173
NM_001111125.3(IQSEC2):c.645C>T (p.Pro215=)
NM_001111125.3(IQSEC2):c.649G>T (p.Ala217Ser)
NM_001111125.3(IQSEC2):c.659G>T (p.Gly220Val) rs2075417861
NM_001111125.3(IQSEC2):c.659del (p.Gly220fs)
NM_001111125.3(IQSEC2):c.681C>T (p.Thr227=) rs2146548006
NM_001111125.3(IQSEC2):c.687G>C (p.Pro229=) rs2146547926
NM_001111125.3(IQSEC2):c.692C>T (p.Thr231Met)
NM_001111125.3(IQSEC2):c.702G>A (p.Gln234=) rs2146547865
NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)
NM_001111125.3(IQSEC2):c.705delA (p.Lys236fs) rs2146547822
NM_001111125.3(IQSEC2):c.707+12G>T
NM_001111125.3(IQSEC2):c.707+6G>A
NM_001111125.3(IQSEC2):c.708-13G>A
NM_001111125.3(IQSEC2):c.708-16T>C
NM_001111125.3(IQSEC2):c.708-18dup rs782120447
NM_001111125.3(IQSEC2):c.708-19_708-18del
NM_001111125.3(IQSEC2):c.727A>G (p.Arg243Gly)
NM_001111125.3(IQSEC2):c.737+16C>G
NM_001111125.3(IQSEC2):c.738-1G>A
NM_001111125.3(IQSEC2):c.738-5C>T rs2147129385
NM_001111125.3(IQSEC2):c.738-9T>A
NM_001111125.3(IQSEC2):c.74A>G (p.Glu25Gly) rs2075427734
NM_001111125.3(IQSEC2):c.750T>C (p.Asp250=)
NM_001111125.3(IQSEC2):c.756A>G (p.Pro252=)
NM_001111125.3(IQSEC2):c.765C>A (p.Asp255Glu)
NM_001111125.3(IQSEC2):c.765C>T (p.Asp255=)
NM_001111125.3(IQSEC2):c.775G>A (p.Ala259Thr) rs2147129010
NM_001111125.3(IQSEC2):c.776C>T (p.Ala259Val)
NM_001111125.3(IQSEC2):c.778G>A (p.Val260Ile) rs1556865162
NM_001111125.3(IQSEC2):c.800C>T (p.Pro267Leu)
NM_001111125.3(IQSEC2):c.801C>G (p.Pro267=) rs2074461496
NM_001111125.3(IQSEC2):c.801C>T (p.Pro267=)
NM_001111125.3(IQSEC2):c.803C>A (p.Pro268His) rs368559547
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.808C>T (p.Arg270Trp) rs1602293814
NM_001111125.3(IQSEC2):c.822G>A (p.Leu274=)
NM_001111125.3(IQSEC2):c.823C>A (p.Pro275Thr)
NM_001111125.3(IQSEC2):c.826C>G (p.Pro276Ala)
NM_001111125.3(IQSEC2):c.826C>T (p.Pro276Ser)
NM_001111125.3(IQSEC2):c.827C>A (p.Pro276His)
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs) rs1556865104
NM_001111125.3(IQSEC2):c.838C>T (p.His280Tyr)
NM_001111125.3(IQSEC2):c.848G>A (p.Gly283Asp) rs1241595562
NM_001111125.3(IQSEC2):c.848G>C (p.Gly283Ala) rs1241595562
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) rs782660318
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) rs782660318
NM_001111125.3(IQSEC2):c.850C>A (p.Pro284Thr) rs782531514
NM_001111125.3(IQSEC2):c.852C>T (p.Pro284=) rs1280970744
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
NM_001111125.3(IQSEC2):c.856G>A (p.Ala286Thr)
NM_001111125.3(IQSEC2):c.862G>A (p.Val288Met)
NM_001111125.3(IQSEC2):c.863del (p.Val288fs) rs1556865060
NM_001111125.3(IQSEC2):c.882G>C (p.Gln294His)
NM_001111125.3(IQSEC2):c.889C>T (p.Arg297Cys) rs990189482
NM_001111125.3(IQSEC2):c.890G>A (p.Arg297His)
NM_001111125.3(IQSEC2):c.89T>C (p.Ile30Thr) rs2146553075
NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)
NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser) rs782768117
NM_001111125.3(IQSEC2):c.912C>T (p.Ala304=) rs2147127620
NM_001111125.3(IQSEC2):c.936G>A (p.Glu312=) rs2074458569
NM_001111125.3(IQSEC2):c.937A>C (p.Ile313Leu)
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs) rs1602293475
NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs) rs2147127449
NM_001111125.3(IQSEC2):c.944G>A (p.Arg315His)
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs) rs2074458024
NM_001111125.3(IQSEC2):c.959C>T (p.Ser320Leu)
NM_001111125.3(IQSEC2):c.960G>C (p.Ser320=) rs782062867
NM_001111125.3(IQSEC2):c.968A>G (p.Tyr323Cys)
NM_001111125.3(IQSEC2):c.96C>T (p.Ser32=)
NM_001111125.3(IQSEC2):c.999+12G>A
NM_001111125.3(IQSEC2):c.999+7C>T
NM_001243197.1(IQSEC2):c.123-2226_*20117dup
NM_001243197.2(IQSEC2):c.117G>C (p.Glu39Asp)

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