ClinVar Miner

List of variants in gene DNAI1 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 823
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.1489+130G>A rs9657620 0.44707
NM_012144.4(DNAI1):c.902-125G>T rs4878575 0.44633
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_012144.4(DNAI1):c.1019+42C>T rs10814116 0.15511
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_012144.4(DNAI1):c.978A>C (p.Gln326His) rs16931555 0.01063
NM_012144.4(DNAI1):c.1401+17G>A rs138412741 0.00773
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696 0.00575
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
NM_012144.4(DNAI1):c.2001+19T>A rs144066349 0.00281
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_012144.4(DNAI1):c.1902C>T (p.His634=) rs139197229 0.00156
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_012144.4(DNAI1):c.81+61A>G rs192896482 0.00122
NM_012144.4(DNAI1):c.1177G>A (p.Val393Met) rs141089746 0.00068
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_012144.4(DNAI1):c.1570-7C>T rs200144108 0.00060
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) rs116938457 0.00053
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_012144.4(DNAI1):c.1365A>G (p.Ser455=) rs376496298 0.00043
NM_012144.4(DNAI1):c.-41T>C rs200245894 0.00041
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_012144.4(DNAI1):c.276G>A (p.Lys92=) rs140983343 0.00029
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_012144.4(DNAI1):c.1401+7A>G rs370745702 0.00019
NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr) rs148238282 0.00017
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr) rs138460682 0.00017
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys) rs141157671 0.00017
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln) rs141704318 0.00014
NM_012144.4(DNAI1):c.741G>A (p.Lys247=) rs562408105 0.00014
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012144.4(DNAI1):c.873C>T (p.Asn291=) rs149755302 0.00013
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe) rs1451350869 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_012144.4(DNAI1):c.48+3A>G rs771238788 0.00012
NM_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_012144.4(DNAI1):c.262-10C>G rs371157271 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_012144.4(DNAI1):c.1570-6G>A rs370622070 0.00008
NM_012144.4(DNAI1):c.682-15C>G rs199865010 0.00008
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp) rs756877115 0.00007
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn) rs148762102 0.00007
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn) rs189377425 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly) rs147909279 0.00006
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp) rs766328772 0.00006
NM_012144.4(DNAI1):c.432C>T (p.Leu144=) rs758652167 0.00006
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile) rs191840487 0.00006
NM_012144.4(DNAI1):c.816+8G>A rs367872627 0.00006
NM_012144.4(DNAI1):c.1215C>T (p.Asp405=) rs376177487 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012144.4(DNAI1):c.522A>G (p.Glu174=) rs534713601 0.00005
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu) rs755122846 0.00005
NM_012144.4(DNAI1):c.660C>T (p.Asn220=) rs146015192 0.00005
NM_012144.4(DNAI1):c.918C>T (p.Asp306=) rs772207177 0.00005
NM_012144.4(DNAI1):c.1002C>T (p.Ser334=) rs754233819 0.00004
NM_012144.4(DNAI1):c.1064-9C>T rs764425574 0.00004
NM_012144.4(DNAI1):c.1152C>T (p.Ser384=) rs145549023 0.00004
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_012144.4(DNAI1):c.1235A>G (p.Asn412Ser) rs1056525406 0.00004
NM_012144.4(DNAI1):c.1401+3G>A rs759795923 0.00004
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met) rs139953639 0.00004
NM_012144.4(DNAI1):c.1818+13G>A rs369757755 0.00004
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg) rs201313023 0.00004
NM_012144.4(DNAI1):c.371G>A (p.Arg124His) rs759257177 0.00004
NM_012144.4(DNAI1):c.501+10A>C rs765805502 0.00004
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn) rs999905460 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_012144.4(DNAI1):c.924T>C (p.Ala308=) rs377594689 0.00004
NM_012144.4(DNAI1):c.963G>A (p.Pro321=) rs762694599 0.00004
NM_012144.4(DNAI1):c.1064-20C>T rs1571404 0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1156G>A (p.Val386Ile) rs565923150 0.00003
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met) rs794727103 0.00003
NM_012144.4(DNAI1):c.1455G>A (p.Thr485=) rs200766993 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744 0.00003
NM_012144.4(DNAI1):c.1773G>A (p.Ala591=) rs547499630 0.00003
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn) rs149230619 0.00003
NM_012144.4(DNAI1):c.633C>T (p.Cys211=) rs1021425002 0.00003
NM_012144.4(DNAI1):c.912C>G (p.Tyr304Ter) rs878854968 0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_012144.4(DNAI1):c.1167C>T (p.Leu389=) rs756277063 0.00002
NM_012144.4(DNAI1):c.1344C>T (p.Asn448=) rs780830330 0.00002
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=) rs377601344 0.00002
NM_012144.4(DNAI1):c.1718+10C>T rs538329068 0.00002
NM_012144.4(DNAI1):c.1722C>T (p.Thr574=) rs548602580 0.00002
NM_012144.4(DNAI1):c.174C>T (p.Thr58=) rs752803659 0.00002
NM_012144.4(DNAI1):c.177T>C (p.Asp59=) rs864622665 0.00002
NM_012144.4(DNAI1):c.1818+12C>T rs770963117 0.00002
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val) rs565034311 0.00002
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys) rs564706097 0.00002
NM_012144.4(DNAI1):c.2049G>A (p.Ala683=) rs555612830 0.00002
NM_012144.4(DNAI1):c.2067G>C (p.Leu689=) rs372932017 0.00002
NM_012144.4(DNAI1):c.228C>T (p.His76=) rs760014707 0.00002
NM_012144.4(DNAI1):c.355C>T (p.Arg119Trp) rs370391949 0.00002
NM_012144.4(DNAI1):c.48+6G>C rs962155265 0.00002
NM_012144.4(DNAI1):c.666A>C (p.Ser222=) rs746805669 0.00002
NM_012144.4(DNAI1):c.791G>A (p.Arg264Lys) rs755853256 0.00002
NM_012144.4(DNAI1):c.1019+5G>C rs747121305 0.00001
NM_012144.4(DNAI1):c.1020-14A>T rs777973486 0.00001
NM_012144.4(DNAI1):c.1064-4G>A rs1254460885 0.00001
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp) rs147893084 0.00001
NM_012144.4(DNAI1):c.1085G>A (p.Arg362Gln) rs372361587 0.00001
NM_012144.4(DNAI1):c.1088G>C (p.Gly363Ala) rs1470058689 0.00001
NM_012144.4(DNAI1):c.108A>G (p.Gly36=) rs774972481 0.00001
NM_012144.4(DNAI1):c.1158C>T (p.Val386=) rs1824938563 0.00001
NM_012144.4(DNAI1):c.1176C>T (p.His392=) rs1300176358 0.00001
NM_012144.4(DNAI1):c.1221C>T (p.Asn407=) rs1368857115 0.00001
NM_012144.4(DNAI1):c.1311+8A>G rs570716480 0.00001
NM_012144.4(DNAI1):c.1312-10G>A rs752862667 0.00001
NM_012144.4(DNAI1):c.1312-2A>G rs1188227820 0.00001
NM_012144.4(DNAI1):c.1312-4T>G rs751375253 0.00001
NM_012144.4(DNAI1):c.1352T>A (p.Phe451Tyr) rs148810969 0.00001
NM_012144.4(DNAI1):c.1368T>C (p.Ser456=) rs1175634371 0.00001
NM_012144.4(DNAI1):c.1374C>G (p.Gly458=) rs772610592 0.00001
NM_012144.4(DNAI1):c.1384T>G (p.Ser462Ala) rs1437841728 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1402-1G>A rs1587089935 0.00001
NM_012144.4(DNAI1):c.1402-4A>G rs761735222 0.00001
NM_012144.4(DNAI1):c.1410G>A (p.Leu470=) rs374506251 0.00001
NM_012144.4(DNAI1):c.1432C>T (p.Leu478=) rs1825082891 0.00001
NM_012144.4(DNAI1):c.1440G>A (p.Val480=) rs1186642679 0.00001
NM_012144.4(DNAI1):c.1470G>T (p.Gly490=) rs888186483 0.00001
NM_012144.4(DNAI1):c.1489+8C>A rs547508610 0.00001
NM_012144.4(DNAI1):c.1490-2A>G rs775831317 0.00001
NM_012144.4(DNAI1):c.1490-7T>C rs1587090777 0.00001
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer) rs751920647 0.00001
NM_012144.4(DNAI1):c.1551G>A (p.Glu517=) rs751010917 0.00001
NM_012144.4(DNAI1):c.1569+10C>T rs1168786289 0.00001
NM_012144.4(DNAI1):c.1569+1G>T rs1465404366 0.00001
NM_012144.4(DNAI1):c.1587C>T (p.Ser529=) rs1204149839 0.00001
NM_012144.4(DNAI1):c.1596C>T (p.Phe532=) rs1384757596 0.00001
NM_012144.4(DNAI1):c.1603A>G (p.Thr535Ala) rs904725096 0.00001
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys) rs144611423 0.00001
NM_012144.4(DNAI1):c.1614C>A (p.Ala538=) rs1201989652 0.00001
NM_012144.4(DNAI1):c.1638G>A (p.Val546=) rs1825132822 0.00001
NM_012144.4(DNAI1):c.1650A>C (p.Pro550=) rs751744463 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1692A>G (p.Thr564=) rs778444720 0.00001
NM_012144.4(DNAI1):c.169T>C (p.Leu57=) rs779175158 0.00001
NM_012144.4(DNAI1):c.1711A>G (p.Thr571Ala) rs1206542308 0.00001
NM_012144.4(DNAI1):c.1713C>T (p.Thr571=) rs770312736 0.00001
NM_012144.4(DNAI1):c.1719-11C>T rs774758389 0.00001
NM_012144.4(DNAI1):c.1725G>A (p.Pro575=) rs772459151 0.00001
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys) rs760852851 0.00001
NM_012144.4(DNAI1):c.1752C>T (p.Ala584=) rs374753474 0.00001
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val) rs751197523 0.00001
NM_012144.4(DNAI1):c.1794C>T (p.Phe598=) rs201746512 0.00001
NM_012144.4(DNAI1):c.181G>A (p.Glu61Lys) rs1354143118 0.00001
NM_012144.4(DNAI1):c.1890C>T (p.Asn630=) rs767207402 0.00001
NM_012144.4(DNAI1):c.1911C>T (p.Phe637=) rs1825189433 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.1968C>T (p.Leu656=) rs772985657 0.00001
NM_012144.4(DNAI1):c.2002-6C>T rs1174622504 0.00001
NM_012144.4(DNAI1):c.2002-8C>T rs886038585 0.00001
NM_012144.4(DNAI1):c.2019G>A (p.Glu673=) rs576215372 0.00001
NM_012144.4(DNAI1):c.2028G>A (p.Lys676=) rs1377892484 0.00001
NM_012144.4(DNAI1):c.2029G>A (p.Gly677Ser) rs556105721 0.00001
NM_012144.4(DNAI1):c.203G>A (p.Arg68Gln) rs771320807 0.00001
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val) rs535760702 0.00001
NM_012144.4(DNAI1):c.2073G>A (p.Leu691=) rs780268562 0.00001
NM_012144.4(DNAI1):c.261+2T>G rs1266767011 0.00001
NM_012144.4(DNAI1):c.27C>T (p.Pro9=) rs755692713 0.00001
NM_012144.4(DNAI1):c.282T>C (p.Ile94=) rs374541022 0.00001
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln) rs375547221 0.00001
NM_012144.4(DNAI1):c.372C>T (p.Arg124=) rs765026554 0.00001
NM_012144.4(DNAI1):c.385G>A (p.Ala129Thr) rs1403317407 0.00001
NM_012144.4(DNAI1):c.389-15C>T rs886063881 0.00001
NM_012144.4(DNAI1):c.389-6A>G rs878854966 0.00001
NM_012144.4(DNAI1):c.389-7T>C rs1824553084 0.00001
NM_012144.4(DNAI1):c.465_466del (p.Glu156fs) rs1392661120 0.00001
NM_012144.4(DNAI1):c.48+9C>G rs746021545 0.00001
NM_012144.4(DNAI1):c.501+16G>A rs373496626 0.00001
NM_012144.4(DNAI1):c.518C>T (p.Thr173Ile) rs1400236913 0.00001
NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter) rs749302505 0.00001
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu) rs1236356655 0.00001
NM_012144.4(DNAI1):c.591G>A (p.Arg197=) rs775975599 0.00001
NM_012144.4(DNAI1):c.598C>T (p.Gln200Ter) rs763505357 0.00001
NM_012144.4(DNAI1):c.614C>G (p.Pro205Arg) rs752018316 0.00001
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp) rs749119217 0.00001
NM_012144.4(DNAI1):c.622-6C>T rs1416045438 0.00001
NM_012144.4(DNAI1):c.636G>A (p.Gln212=) rs758269785 0.00001
NM_012144.4(DNAI1):c.676A>C (p.Asn226His) rs769349211 0.00001
NM_012144.4(DNAI1):c.681+7C>A rs200424920 0.00001
NM_012144.4(DNAI1):c.682-12A>G rs755730248 0.00001
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr) rs747538328 0.00001
NM_012144.4(DNAI1):c.708G>A (p.Glu236=) rs765581497 0.00001
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu) rs775818668 0.00001
NM_012144.4(DNAI1):c.783G>A (p.Met261Ile) rs1299113119 0.00001
NM_012144.4(DNAI1):c.81+17_81+18dup rs779274308 0.00001
NM_012144.4(DNAI1):c.81+20T>C rs572257884 0.00001
NM_012144.4(DNAI1):c.810G>A (p.Glu270=) rs200945732 0.00001
NM_012144.4(DNAI1):c.859G>T (p.Glu287Ter) rs1290572246 0.00001
NM_012144.4(DNAI1):c.872A>G (p.Asn291Ser) rs1824742637 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_012144.4(DNAI1):c.919G>A (p.Asp307Asn) rs773243879 0.00001
NC_000009.11:g.(?_34483426)_(34520754_?)del
NC_000009.11:g.(?_34489301)_(34491572_?)del
NC_000009.11:g.(?_34489311)_(34489457_?)del
NC_000009.11:g.(?_34489311)_(34493336_?)del
NC_000009.11:g.(?_34489311)_(34520764_?)del
NC_000009.11:g.(?_34513100)_(34514747_?)del
NC_000009.11:g.(?_34520636)_(34520754_?)dup
NM_012144.4(DNAI1):c.*163C>G rs1051948461
NM_012144.4(DNAI1):c.-1_4del (p.Met1fs)
NM_012144.4(DNAI1):c.1002C>A (p.Ser334=) rs754233819
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012144.4(DNAI1):c.1005C>T (p.Val335=)
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser) rs1319380844
NM_012144.4(DNAI1):c.1011C>T (p.Ala337=) rs758595604
NM_012144.4(DNAI1):c.1019+10G>C rs1554689742
NM_012144.4(DNAI1):c.1019+10G>T rs1554689742
NM_012144.4(DNAI1):c.1019+11G>T
NM_012144.4(DNAI1):c.1019+20_1019+28del
NM_012144.4(DNAI1):c.1019+9A>C
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
NM_012144.4(DNAI1):c.1020-10T>C
NM_012144.4(DNAI1):c.1020-10T>G rs2132072437
NM_012144.4(DNAI1):c.1020-14A>G
NM_012144.4(DNAI1):c.1020-16A>G
NM_012144.4(DNAI1):c.1020-16A>T
NM_012144.4(DNAI1):c.1020-5del
NM_012144.4(DNAI1):c.1020-5dup
NM_012144.4(DNAI1):c.1020-9T>C
NM_012144.4(DNAI1):c.1029G>A (p.Lys343=)
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu)
NM_012144.4(DNAI1):c.1063+10C>T rs2132072481
NM_012144.4(DNAI1):c.1063+16A>G rs2132072492
NM_012144.4(DNAI1):c.1063+17T>C
NM_012144.4(DNAI1):c.1063+19C>T rs794727066
NM_012144.4(DNAI1):c.1063+1G>A rs1268770869
NM_012144.4(DNAI1):c.1063+1G>T rs1268770869
NM_012144.4(DNAI1):c.1063+2T>C
NM_012144.4(DNAI1):c.1064-10C>G
NM_012144.4(DNAI1):c.1064-11del
NM_012144.4(DNAI1):c.1064-15A>T
NM_012144.4(DNAI1):c.1064-19G>A
NM_012144.4(DNAI1):c.1064-19G>C
NM_012144.4(DNAI1):c.1064-4G>T
NM_012144.4(DNAI1):c.1064-7T>C rs886038584
NM_012144.4(DNAI1):c.1073_1076del (p.Met358fs)
NM_012144.4(DNAI1):c.1086G>A (p.Arg362=)
NM_012144.4(DNAI1):c.1088G>A (p.Gly363Asp)
NM_012144.4(DNAI1):c.1092dup (p.Leu365fs)
NM_012144.4(DNAI1):c.1095G>A (p.Leu365=) rs749181536
NM_012144.4(DNAI1):c.1095G>T (p.Leu365=) rs749181536
NM_012144.4(DNAI1):c.1101C>G (p.Leu367=) rs768631309
NM_012144.4(DNAI1):c.1110G>A (p.Leu370=) rs2132076725
NM_012144.4(DNAI1):c.1113G>A (p.Lys371=)
NM_012144.4(DNAI1):c.1116C>T (p.Asn372=)
NM_012144.4(DNAI1):c.1119C>T (p.Pro373=)
NM_012144.4(DNAI1):c.1122C>T (p.Ser374=)
NM_012144.4(DNAI1):c.1127del (p.Pro376fs) rs2132076740
NM_012144.4(DNAI1):c.1128T>C (p.Pro376=) rs1824937169
NM_012144.4(DNAI1):c.1128T>G (p.Pro376=) rs1824937169
NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser)
NM_012144.4(DNAI1):c.1131G>A (p.Glu377=) rs936989573
NM_012144.4(DNAI1):c.1132T>G (p.Tyr378Asp)
NM_012144.4(DNAI1):c.1134C>G (p.Tyr378Ter)
NM_012144.4(DNAI1):c.1134C>T (p.Tyr378=) rs2132076769
NM_012144.4(DNAI1):c.1152_1161delinsA (p.Ser384_Met387delinsArg) rs1824938179
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr) rs767667443
NM_012144.4(DNAI1):c.1163G>T (p.Cys388Phe) rs767667443
NM_012144.4(DNAI1):c.1170C>T (p.Asp390=)
NM_012144.4(DNAI1):c.1179G>C (p.Val393=)
NM_012144.4(DNAI1):c.1188C>T (p.Pro396=) rs2132076864
NM_012144.4(DNAI1):c.1188del (p.Tyr397fs) rs1060503515
NM_012144.4(DNAI1):c.1191C>T (p.Tyr397=)
NM_012144.4(DNAI1):c.1191_1193del (p.Tyr397_Leu398delinsTer) rs2132076876
NM_012144.4(DNAI1):c.1197G>A (p.Val399=)
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly) rs553371109
NM_012144.4(DNAI1):c.1202dup (p.Gly402fs) rs2132076893
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser) rs746647838
NM_012144.4(DNAI1):c.1204G>T (p.Gly402Cys)
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp) rs138954776
NM_012144.4(DNAI1):c.1205G>T (p.Gly402Val)
NM_012144.4(DNAI1):c.1206C>A (p.Gly402=) rs1824940432
NM_012144.4(DNAI1):c.1209C>T (p.His403=)
NM_012144.4(DNAI1):c.120T>C (p.Asp40=)
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser) rs769177784
NM_012144.4(DNAI1):c.1229T>C (p.Ile410Thr)
NM_012144.4(DNAI1):c.1239C>G (p.Leu413=) rs2132076954
NM_012144.4(DNAI1):c.1239del (p.Lys414fs)
NM_012144.4(DNAI1):c.123A>G (p.Glu41=)
NM_012144.4(DNAI1):c.1242G>A (p.Lys414=) rs768199292
NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys)
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu) rs1256336794
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012144.4(DNAI1):c.1269C>T (p.Cys423=) rs2132076997
NM_012144.4(DNAI1):c.1289_1310dup (p.Val438fs)
NM_012144.4(DNAI1):c.1290G>A (p.Lys430=) rs1047610175
NM_012144.4(DNAI1):c.1302T>C (p.Pro434=)
NM_012144.4(DNAI1):c.1305G>A (p.Val435=)
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter) rs769284314
NM_012144.4(DNAI1):c.1311+13G>A
NM_012144.4(DNAI1):c.1311+16G>A
NM_012144.4(DNAI1):c.1311+16G>T
NM_012144.4(DNAI1):c.1311+1G>C rs2132077044
NM_012144.4(DNAI1):c.1311+20G>A
NM_012144.4(DNAI1):c.1311+21_1311+35del
NM_012144.4(DNAI1):c.1311+2T>A rs1587085165
NM_012144.4(DNAI1):c.1311+2T>C rs1587085165
NM_012144.4(DNAI1):c.1311+7A>G rs2132077061
NM_012144.4(DNAI1):c.1311+9C>G rs2132077070
NM_012144.4(DNAI1):c.1312-13del
NM_012144.4(DNAI1):c.1312-19A>C
NM_012144.4(DNAI1):c.1312-7G>A
NM_012144.4(DNAI1):c.1319G>A (p.Trp440Ter)
NM_012144.4(DNAI1):c.132A>G (p.Gln44=) rs2132057349
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs) rs867262419
NM_012144.4(DNAI1):c.1351_1352inv (p.Phe451Asn)
NM_012144.4(DNAI1):c.1352TCT[1] (p.Phe452del)
NM_012144.4(DNAI1):c.1358C>T (p.Ser453Phe) rs570528970
NM_012144.4(DNAI1):c.1358_1359del (p.Ser453fs) rs2132081341
NM_012144.4(DNAI1):c.1366T>C (p.Ser456Pro)
NM_012144.4(DNAI1):c.1374C>A (p.Gly458=)
NM_012144.4(DNAI1):c.1377G>A (p.Arg459=)
NM_012144.4(DNAI1):c.1383G>A (p.Val461=) rs2132081385
NM_012144.4(DNAI1):c.1383_1384del (p.Ser462fs) rs1370523337
NM_012144.4(DNAI1):c.1390A>G (p.Thr464Ala)
NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr)
NM_012144.4(DNAI1):c.139del (p.Ala47fs)
NM_012144.4(DNAI1):c.1401+12C>T
NM_012144.4(DNAI1):c.1401+18A>G
NM_012144.4(DNAI1):c.1401+3_1401+10del rs765551840
NM_012144.4(DNAI1):c.1401+6dup rs2132081431
NM_012144.4(DNAI1):c.1402-14G>C
NM_012144.4(DNAI1):c.1402-19C>T
NM_012144.4(DNAI1):c.1407G>A (p.Lys469=)
NM_012144.4(DNAI1):c.1422T>C (p.Asp474=) rs201345286
NM_012144.4(DNAI1):c.1431G>A (p.Lys477=)
NM_012144.4(DNAI1):c.1437G>A (p.Lys479=)
NM_012144.4(DNAI1):c.1443A>G (p.Glu481=)
NM_012144.4(DNAI1):c.1449C>T (p.Ser483=) rs1461407696
NM_012144.4(DNAI1):c.144A>G (p.Thr48=)
NM_012144.4(DNAI1):c.1452C>T (p.Thr484=)
NM_012144.4(DNAI1):c.1455G>C (p.Thr485=)
NM_012144.4(DNAI1):c.1463del (p.Pro488fs) rs2132081705
NM_012144.4(DNAI1):c.1469G>A (p.Gly490Glu)
NM_012144.4(DNAI1):c.146_149del (p.Val49fs) rs2132057373
NM_012144.4(DNAI1):c.1476G>A (p.Gln492=)
NM_012144.4(DNAI1):c.1482C>T (p.His494=)
NM_012144.4(DNAI1):c.1485A>G (p.Pro495=)
NM_012144.4(DNAI1):c.1489+10C>A
NM_012144.4(DNAI1):c.1489+10C>T
NM_012144.4(DNAI1):c.1489+12A>G
NM_012144.4(DNAI1):c.1489+13G>A
NM_012144.4(DNAI1):c.1489+16C>T
NM_012144.4(DNAI1):c.1489+2T>G rs1825084931
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser) rs1212462636
NM_012144.4(DNAI1):c.1490-17C>T
NM_012144.4(DNAI1):c.1490-5C>G
NM_012144.4(DNAI1):c.1490-5C>T rs748260311
NM_012144.4(DNAI1):c.1490G>T (p.Gly497Val) rs376252276
NM_012144.4(DNAI1):c.1494T>C (p.Cys498=) rs2132082502
NM_012144.4(DNAI1):c.1495G>A (p.Gly499Ser) rs1412970451
NM_012144.4(DNAI1):c.1497C>T (p.Gly499=)
NM_012144.4(DNAI1):c.1498_1502del (p.Thr500fs)
NM_012144.4(DNAI1):c.1499dup (p.Ala501fs) rs1825102855
NM_012144.4(DNAI1):c.1512C>T (p.Phe504=) rs1168965747
NM_012144.4(DNAI1):c.1515C>T (p.His505=) rs2132082536
NM_012144.4(DNAI1):c.1530C>T (p.Tyr510=)
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro) rs1554691352
NM_012144.4(DNAI1):c.153C>A (p.Pro51=) rs1587067441
NM_012144.4(DNAI1):c.1558A>G (p.Lys520Glu)
NM_012144.4(DNAI1):c.1563C>T (p.Ile521=) rs2132082600
NM_012144.4(DNAI1):c.1566C>T (p.Tyr522=)
NM_012144.4(DNAI1):c.1569+11C>T
NM_012144.4(DNAI1):c.1569+12C>G
NM_012144.4(DNAI1):c.1569+12dup rs1278322224
NM_012144.4(DNAI1):c.1569+14G>T
NM_012144.4(DNAI1):c.1569+15T>C
NM_012144.4(DNAI1):c.1569+16G>A
NM_012144.4(DNAI1):c.1569+17C>T
NM_012144.4(DNAI1):c.1569+18C>T
NM_012144.4(DNAI1):c.1569+1G>A rs1465404366
NM_012144.4(DNAI1):c.1569+7C>T
NM_012144.4(DNAI1):c.156del (p.Asp53fs) rs1060503495
NM_012144.4(DNAI1):c.1570-14C>A
NM_012144.4(DNAI1):c.1570-17G>A
NM_012144.4(DNAI1):c.1570-18C>G
NM_012144.4(DNAI1):c.1570-18C>T
NM_012144.4(DNAI1):c.1570-1G>T rs1587091911
NM_012144.4(DNAI1):c.1570-20C>T
NM_012144.4(DNAI1):c.1570-4C>A
NM_012144.4(DNAI1):c.1570-4C>T
NM_012144.4(DNAI1):c.1570-6G>C rs370622070
NM_012144.4(DNAI1):c.1570-8C>T rs2132083713
NM_012144.4(DNAI1):c.1574C>G (p.Ser525Cys)
NM_012144.4(DNAI1):c.1591C>T (p.Gln531Ter)
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761
NM_012144.4(DNAI1):c.15T>C (p.Ser5=)
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=) rs199502666
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012144.4(DNAI1):c.1612G>T (p.Ala538Ser)
NM_012144.4(DNAI1):c.1613C>T (p.Ala538Val) rs2132083804
NM_012144.4(DNAI1):c.1614C>T (p.Ala538=)
NM_012144.4(DNAI1):c.1623G>A (p.Met541Ile)
NM_012144.4(DNAI1):c.1635T>G (p.Thr545=)
NM_012144.4(DNAI1):c.1636G>A (p.Val546Met)
NM_012144.4(DNAI1):c.1637T>C (p.Val546Ala)
NM_012144.4(DNAI1):c.1638G>T (p.Val546=) rs1825132822
NM_012144.4(DNAI1):c.1638_1639del (p.Ser547fs)
NM_012144.4(DNAI1):c.163del (p.Leu55fs) rs1196979432
NM_012144.4(DNAI1):c.1643G>A (p.Trp548Ter)
NM_012144.4(DNAI1):c.1644del (p.Ser547_Trp548insTer)
NM_012144.4(DNAI1):c.1647C>T (p.Asn549=)
NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro)
NM_012144.4(DNAI1):c.1653C>G (p.Tyr551Ter)
NM_012144.4(DNAI1):c.1658_1669del (p.Thr553_Phe556del) rs606231165
NM_012144.4(DNAI1):c.165G>A (p.Leu55=) rs2132057398
NM_012144.4(DNAI1):c.1667T>C (p.Phe556Ser) rs1554691490
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012144.4(DNAI1):c.1677C>A (p.Cys559Ter)
NM_012144.4(DNAI1):c.1677C>T (p.Cys559=) rs1379578270
NM_012144.4(DNAI1):c.1683C>G (p.Ser561=) rs749068442
NM_012144.4(DNAI1):c.1683C>T (p.Ser561=) rs749068442
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
NM_012144.4(DNAI1):c.1688G>A (p.Trp563Ter) rs2132083938
NM_012144.4(DNAI1):c.1692A>C (p.Thr564=)
NM_012144.4(DNAI1):c.1698G>A (p.Lys566=)
NM_012144.4(DNAI1):c.1700T>C (p.Ile567Thr) rs1554691495
NM_012144.4(DNAI1):c.1710C>T (p.His570=)
NM_012144.4(DNAI1):c.1718+12G>A
NM_012144.4(DNAI1):c.1718+15C>T
NM_012144.4(DNAI1):c.1718+19G>T
NM_012144.4(DNAI1):c.1718+1G>A rs2132084012
NM_012144.4(DNAI1):c.1718+20C>T
NM_012144.4(DNAI1):c.1718+2T>G
NM_012144.4(DNAI1):c.1718+9C>A
NM_012144.4(DNAI1):c.1719-10A>C
NM_012144.4(DNAI1):c.1719-12C>T
NM_012144.4(DNAI1):c.1719-14C>T
NM_012144.4(DNAI1):c.1719-18C>T
NM_012144.4(DNAI1):c.1719-2A>G
NM_012144.4(DNAI1):c.1719-3C>T
NM_012144.4(DNAI1):c.1719-4G>A rs1419477770
NM_012144.4(DNAI1):c.1719-9C>T
NM_012144.4(DNAI1):c.1720_1725delinsTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACACA (p.Thr574_Pro575delinsTer)
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
NM_012144.4(DNAI1):c.1737T>C (p.Tyr579=)
NM_012144.4(DNAI1):c.1746C>T (p.Asn582=)
NM_012144.4(DNAI1):c.174C>A (p.Thr58=)
NM_012144.4(DNAI1):c.1758T>A (p.Gly586=) rs758117826
NM_012144.4(DNAI1):c.1758T>C (p.Gly586=) rs758117826
NM_012144.4(DNAI1):c.1761T>C (p.Asp587=)
NM_012144.4(DNAI1):c.1767C>A (p.Ala589=)
NM_012144.4(DNAI1):c.1776A>T (p.Pro592=) rs1008510837
NM_012144.4(DNAI1):c.1779C>T (p.Tyr593=)
NM_012144.4(DNAI1):c.1783T>C (p.Ser595Pro)
NM_012144.4(DNAI1):c.1787C>T (p.Thr596Ile) rs2132084252
NM_012144.4(DNAI1):c.1788T>C (p.Thr596=)
NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr)
NM_012144.4(DNAI1):c.178dup (p.Ala60fs) rs2132057423
NM_012144.4(DNAI1):c.180+14C>T
NM_012144.4(DNAI1):c.180+19G>A
NM_012144.4(DNAI1):c.180+1G>A rs2132057443
NM_012144.4(DNAI1):c.180+1G>T rs2132057443
NM_012144.4(DNAI1):c.180+20T>C
NM_012144.4(DNAI1):c.180+2T>G rs1587067513
NM_012144.4(DNAI1):c.1800A>G (p.Ala600=)
NM_012144.4(DNAI1):c.1809A>T (p.Thr603=) rs2132084284
NM_012144.4(DNAI1):c.180G>T (p.Ala60=) rs201120508
NM_012144.4(DNAI1):c.181-15A>G
NM_012144.4(DNAI1):c.181-2A>T
NM_012144.4(DNAI1):c.181-5C>T rs2132057646
NM_012144.4(DNAI1):c.181-7C>A
NM_012144.4(DNAI1):c.1813G>A (p.Gly605Arg)
NM_012144.4(DNAI1):c.1818+15C>A rs1825142151
NM_012144.4(DNAI1):c.1818+15C>G
NM_012144.4(DNAI1):c.1818+17T>C
NM_012144.4(DNAI1):c.1818+1G>T rs904790792
NM_012144.4(DNAI1):c.1818+20C>T
NM_012144.4(DNAI1):c.1818+2T>A
NM_012144.4(DNAI1):c.1818+9C>G
NM_012144.4(DNAI1):c.1819-10C>T
NM_012144.4(DNAI1):c.1819-11C>T
NM_012144.4(DNAI1):c.1819-14C>G
NM_012144.4(DNAI1):c.1819-14C>T
NM_012144.4(DNAI1):c.1819-19G>A
NM_012144.4(DNAI1):c.1819-2A>G rs2132086408
NM_012144.4(DNAI1):c.1819-4A>C rs2132086400
NM_012144.4(DNAI1):c.1819-9T>G rs1587094351
NM_012144.4(DNAI1):c.1821C>T (p.Ala607=) rs2132086418
NM_012144.4(DNAI1):c.1822C>T (p.His608Tyr)
NM_012144.4(DNAI1):c.1823A>C (p.His608Pro)
NM_012144.4(DNAI1):c.1825A>G (p.Ile609Val)
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu) rs727502978
NM_012144.4(DNAI1):c.1839C>T (p.Ala613=)
NM_012144.4(DNAI1):c.1866_1873del (p.Gln623fs) rs1825188115
NM_012144.4(DNAI1):c.1871del (p.Pro624fs) rs1168493593
NM_012144.4(DNAI1):c.1875G>T (p.Val625=)
NM_012144.4(DNAI1):c.1884A>G (p.Lys628=) rs544254178
NM_012144.4(DNAI1):c.1887G>A (p.Lys629=)
NM_012144.4(DNAI1):c.1887del (p.Asn630fs) rs2132086495
NM_012144.4(DNAI1):c.1899C>A (p.Thr633=) rs1424652340
NM_012144.4(DNAI1):c.1899C>T (p.Thr633=)
NM_012144.4(DNAI1):c.189G>A (p.Lys63=) rs1011660587
NM_012144.4(DNAI1):c.18G>A (p.Ala6=)
NM_012144.4(DNAI1):c.1900dup (p.His634fs) rs1825189052
NM_012144.4(DNAI1):c.1917C>T (p.Leu639=) rs1825189744
NM_012144.4(DNAI1):c.1920C>A (p.Ile640=) rs778382564
NM_012144.4(DNAI1):c.1921C>T (p.His641Tyr)
NM_012144.4(DNAI1):c.1925C>G (p.Pro642Arg)
NM_012144.4(DNAI1):c.1926C>A (p.Pro642=) rs2132086584
NM_012144.4(DNAI1):c.192G>A (p.Glu64=) rs2132057666
NM_012144.4(DNAI1):c.1935T>C (p.Ile645=)
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met) rs1393988058
NM_012144.4(DNAI1):c.193G>T (p.Glu65Ter)
NM_012144.4(DNAI1):c.1941_1942insCA (p.Asp648fs)
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)
NM_012144.4(DNAI1):c.195G>A (p.Glu65=)
NM_012144.4(DNAI1):c.1962C>A (p.Ile654=)
NM_012144.4(DNAI1):c.1962C>T (p.Ile654=)
NM_012144.4(DNAI1):c.196T>C (p.Phe66Leu)
NM_012144.4(DNAI1):c.1984T>C (p.Leu662=) rs2132086682
NM_012144.4(DNAI1):c.1987C>G (p.Arg663Gly) rs564706097
NM_012144.4(DNAI1):c.1998A>G (p.Pro666=) rs919734920
NM_012144.4(DNAI1):c.1A>G (p.Met1Val)
NM_012144.4(DNAI1):c.2000_2001insTT (p.Lys667fs)
NM_012144.4(DNAI1):c.2001+10C>G rs1237431260
NM_012144.4(DNAI1):c.2001+10C>T
NM_012144.4(DNAI1):c.2001+14G>A
NM_012144.4(DNAI1):c.2001+1G>A rs397515563
NM_012144.4(DNAI1):c.2001+1G>T
NM_012144.4(DNAI1):c.2001+7G>A rs1437773528
NM_012144.4(DNAI1):c.2001+7G>C
NM_012144.4(DNAI1):c.2001+9T>C
NM_012144.4(DNAI1):c.2002-10C>T
NM_012144.4(DNAI1):c.2002-18T>C
NM_012144.4(DNAI1):c.2002-4C>T
NM_012144.4(DNAI1):c.2002-5C>T rs1587096958
NM_012144.4(DNAI1):c.2007G>A (p.Lys669=)
NM_012144.4(DNAI1):c.2013G>A (p.Gly671=)
NM_012144.4(DNAI1):c.2022G>A (p.Val674=) rs933564569
NM_012144.4(DNAI1):c.202C>A (p.Arg68=) rs759540568
NM_012144.4(DNAI1):c.2033C>T (p.Pro678Leu)
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro) rs111887810
NM_012144.4(DNAI1):c.2046T>A (p.Ile682=) rs2132089778
NM_012144.4(DNAI1):c.2049G>C (p.Ala683=)
NM_012144.4(DNAI1):c.204G>A (p.Arg68=) rs1301833925
NM_012144.4(DNAI1):c.2058C>T (p.Asp686=) rs770774973
NM_012144.4(DNAI1):c.2067G>A (p.Leu689=)
NM_012144.4(DNAI1):c.2074G>C (p.Val692Leu)
NM_012144.4(DNAI1):c.2076G>C (p.Val692=)
NM_012144.4(DNAI1):c.207T>A (p.Ile69=) rs2132057695
NM_012144.4(DNAI1):c.228C>A (p.His76Gln) rs760014707
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro) rs11547035
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_012144.4(DNAI1):c.230C>T (p.Ala77Val)
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu) rs1564031598
NM_012144.4(DNAI1):c.254G>C (p.Ser85Thr)
NM_012144.4(DNAI1):c.256T>C (p.Phe86Leu)
NM_012144.4(DNAI1):c.261+10C>T rs1824453816
NM_012144.4(DNAI1):c.261+13C>T
NM_012144.4(DNAI1):c.261+15C>T
NM_012144.4(DNAI1):c.261+16C>T
NM_012144.4(DNAI1):c.261+19G>C
NM_012144.4(DNAI1):c.261+7C>T
NM_012144.4(DNAI1):c.261+8A>G rs757264175
NM_012144.4(DNAI1):c.262-12del rs572785591
NM_012144.4(DNAI1):c.262-13C>T
NM_012144.4(DNAI1):c.262-2A>G rs1824533495
NM_012144.4(DNAI1):c.262-4T>C
NM_012144.4(DNAI1):c.262-7T>G rs2132060966
NM_012144.4(DNAI1):c.262-8C>A rs1824533419
NM_012144.4(DNAI1):c.262-8C>T
NM_012144.4(DNAI1):c.264del (p.Gly89fs) rs2132060982
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)
NM_012144.4(DNAI1):c.273T>C (p.Tyr91=)
NM_012144.4(DNAI1):c.282_283insAATA (p.Gly95fs) rs606231164
NM_012144.4(DNAI1):c.288T>C (p.Phe96=) rs201935680
NM_012144.4(DNAI1):c.291G>T (p.Val97=) rs1824534447
NM_012144.4(DNAI1):c.300G>C (p.Leu100=)
NM_012144.4(DNAI1):c.302C>T (p.Ala101Val) rs1824534743
NM_012144.4(DNAI1):c.309C>T (p.His103=) rs1055150779
NM_012144.4(DNAI1):c.315C>G (p.Thr105=)
NM_012144.4(DNAI1):c.315C>T (p.Thr105=)
NM_012144.4(DNAI1):c.325A>G (p.Asn109Asp) rs1824535486
NM_012144.4(DNAI1):c.327C>T (p.Asn109=) rs1691131982
NM_012144.4(DNAI1):c.332T>G (p.Ile111Ser)
NM_012144.4(DNAI1):c.333C>T (p.Ile111=) rs1318069994
NM_012144.4(DNAI1):c.336C>T (p.Pro112=) rs2132061103
NM_012144.4(DNAI1):c.336del (p.Asp114fs) rs876657683
NM_012144.4(DNAI1):c.338A>G (p.Lys113Arg) rs367903999
NM_012144.4(DNAI1):c.342del (p.Ser115fs)
NM_012144.4(DNAI1):c.353G>T (p.Gly118Val)
NM_012144.4(DNAI1):c.366T>A (p.His122Gln) rs1060503514
NM_012144.4(DNAI1):c.366T>C (p.His122=) rs1060503514
NM_012144.4(DNAI1):c.373G>A (p.Asp125Asn)
NM_012144.4(DNAI1):c.380T>A (p.Leu127Ter)
NM_012144.4(DNAI1):c.384G>A (p.Val128=) rs2132061208
NM_012144.4(DNAI1):c.388+10T>C
NM_012144.4(DNAI1):c.389-11A>G
NM_012144.4(DNAI1):c.389-13G>A
NM_012144.4(DNAI1):c.389-19T>C
NM_012144.4(DNAI1):c.389-4C>G rs767845991
NM_012144.4(DNAI1):c.389-5C>A rs1587070803
NM_012144.4(DNAI1):c.389-8C>A
NM_012144.4(DNAI1):c.389-9C>T
NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)
NM_012144.4(DNAI1):c.399G>A (p.Glu133=) rs756828891
NM_012144.4(DNAI1):c.402T>A (p.Ser134=)
NM_012144.4(DNAI1):c.402_403insAT (p.Val135fs)
NM_012144.4(DNAI1):c.409G>A (p.Val137Met)
NM_012144.4(DNAI1):c.419A>T (p.Glu140Val)
NM_012144.4(DNAI1):c.423A>G (p.Thr141=) rs2132061760
NM_012144.4(DNAI1):c.426A>G (p.Gly142=)
NM_012144.4(DNAI1):c.438A>C (p.Glu146Asp)
NM_012144.4(DNAI1):c.43A>T (p.Lys15Ter)
NM_012144.4(DNAI1):c.441C>T (p.Asp147=) rs374753293
NM_012144.4(DNAI1):c.447G>A (p.Glu149=) rs1371790403
NM_012144.4(DNAI1):c.453G>A (p.Lys151=)
NM_012144.4(DNAI1):c.458T>A (p.Leu153Ter) rs2132061817
NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)
NM_012144.4(DNAI1):c.474G>A (p.Gly158=)
NM_012144.4(DNAI1):c.48+10G>A rs2132034542
NM_012144.4(DNAI1):c.48+10G>T
NM_012144.4(DNAI1):c.48+13C>T
NM_012144.4(DNAI1):c.48+14A>G
NM_012144.4(DNAI1):c.48+16C>T rs775621604
NM_012144.4(DNAI1):c.48+19C>T
NM_012144.4(DNAI1):c.48+1G>C rs2132034522
NM_012144.4(DNAI1):c.48+1G>T
NM_012144.4(DNAI1):c.48+6G>A
NM_012144.4(DNAI1):c.48+9C>T
NM_012144.4(DNAI1):c.484_485del (p.Asp162fs)
NM_012144.4(DNAI1):c.485A>T (p.Asp162Val) rs1554687745
NM_012144.4(DNAI1):c.488_489dup (p.Pro164fs)
NM_012144.4(DNAI1):c.489G>A (p.Val163=)
NM_012144.4(DNAI1):c.48G>T (p.Gln16His)
NM_012144.4(DNAI1):c.49-10C>T
NM_012144.4(DNAI1):c.49-16del
NM_012144.4(DNAI1):c.49-1G>C rs748042738
NM_012144.4(DNAI1):c.49-4T>G rs2132055870
NM_012144.4(DNAI1):c.49-7C>T
NM_012144.4(DNAI1):c.498T>G (p.Ala166=)
NM_012144.4(DNAI1):c.501+10A>G rs765805502
NM_012144.4(DNAI1):c.501+15C>A rs369759767
NM_012144.4(DNAI1):c.501+15C>T
NM_012144.4(DNAI1):c.501+16G>T
NM_012144.4(DNAI1):c.501+17C>T
NM_012144.4(DNAI1):c.501+19_501+20del
NM_012144.4(DNAI1):c.501+1G>A rs1824556879
NM_012144.4(DNAI1):c.501+1G>T
NM_012144.4(DNAI1):c.501+8A>G
NM_012144.4(DNAI1):c.501G>T (p.Gly167=)
NM_012144.4(DNAI1):c.502-10T>C
NM_012144.4(DNAI1):c.503C>A (p.Ala168Glu)
NM_012144.4(DNAI1):c.516G>A (p.Val172=) rs2132062151
NM_012144.4(DNAI1):c.51C>T (p.Ser17=) rs2132055879
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del) rs878854967
NM_012144.4(DNAI1):c.528A>G (p.Glu176=) rs2132062181
NM_012144.4(DNAI1):c.529T>C (p.Leu177=) rs1225651030
NM_012144.4(DNAI1):c.537T>C (p.Thr179=) rs2132062198
NM_012144.4(DNAI1):c.543G>A (p.Lys181=) rs2132062207
NM_012144.4(DNAI1):c.544C>T (p.Gln182Ter) rs1824564325
NM_012144.4(DNAI1):c.549C>G (p.Pro183=) rs771926865
NM_012144.4(DNAI1):c.549C>T (p.Pro183=) rs771926865
NM_012144.4(DNAI1):c.552G>A (p.Lys184=) rs2132062224
NM_012144.4(DNAI1):c.556dup (p.Arg186fs) rs1824564676
NM_012144.4(DNAI1):c.557G>A (p.Arg186Lys) rs1178602656
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer) rs1405276816
NM_012144.4(DNAI1):c.570C>T (p.Asn190=)
NM_012144.4(DNAI1):c.579C>T (p.Asn193=)
NM_012144.4(DNAI1):c.594C>G (p.Ala198=)
NM_012144.4(DNAI1):c.601A>T (p.Thr201Ser)
NM_012144.4(DNAI1):c.603C>G (p.Thr201=) rs8181087
NM_012144.4(DNAI1):c.606C>T (p.Tyr202=) rs1824565965
NM_012144.4(DNAI1):c.60A>C (p.Ile20=)
NM_012144.4(DNAI1):c.615T>C (p.Pro205=) rs1824566223
NM_012144.4(DNAI1):c.621+12C>T
NM_012144.4(DNAI1):c.621+13C>T
NM_012144.4(DNAI1):c.621+14C>A
NM_012144.4(DNAI1):c.621+14C>T
NM_012144.4(DNAI1):c.621+14dup rs757124110
NM_012144.4(DNAI1):c.621+15A>C
NM_012144.4(DNAI1):c.621+17C>G
NM_012144.4(DNAI1):c.621+9G>A
NM_012144.4(DNAI1):c.622-10T>C
NM_012144.4(DNAI1):c.622-14G>A
NM_012144.4(DNAI1):c.622-20C>G
NM_012144.4(DNAI1):c.622-2A>G
NM_012144.4(DNAI1):c.622-9G>C rs1317000391
NM_012144.4(DNAI1):c.625C>T (p.Arg209Ter) rs769224534
NM_012144.4(DNAI1):c.634C>T (p.Gln212Ter)
NM_012144.4(DNAI1):c.646C>T (p.Pro216Ser) rs1824592383
NM_012144.4(DNAI1):c.649C>G (p.Pro217Ala) rs886063882
NM_012144.4(DNAI1):c.651C>A (p.Pro217=)
NM_012144.4(DNAI1):c.654G>A (p.Arg218=)
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp)
NM_012144.4(DNAI1):c.663_664del (p.Ala223fs) rs2132063305
NM_012144.4(DNAI1):c.675C>T (p.Ala225=)
NM_012144.4(DNAI1):c.681+1G>A rs532919927
NM_012144.4(DNAI1):c.681+20T>C
NM_012144.4(DNAI1):c.681+8C>G
NM_012144.4(DNAI1):c.682-10C>T rs748769889
NM_012144.4(DNAI1):c.682-11C>A
NM_012144.4(DNAI1):c.682-11C>T
NM_012144.4(DNAI1):c.682-18T>C
NM_012144.4(DNAI1):c.682-1G>A rs2132065273
NM_012144.4(DNAI1):c.682-6G>C
NM_012144.4(DNAI1):c.682-9C>T
NM_012144.4(DNAI1):c.683G>A (p.Trp228Ter)
NM_012144.4(DNAI1):c.688_689del (p.Ile230fs) rs2132065290
NM_012144.4(DNAI1):c.693T>C (p.Tyr231=)
NM_012144.4(DNAI1):c.696T>C (p.Asp232=) rs2132065303
NM_012144.4(DNAI1):c.702T>C (p.Tyr234=)
NM_012144.4(DNAI1):c.705A>C (p.Val235=) rs2132065332
NM_012144.4(DNAI1):c.705A>G (p.Val235=)
NM_012144.4(DNAI1):c.710A>T (p.Glu237Val) rs1824644753
NM_012144.4(DNAI1):c.711A>G (p.Glu237=)
NM_012144.4(DNAI1):c.718A>T (p.Lys240Ter)
NM_012144.4(DNAI1):c.723G>A (p.Gln241=)
NM_012144.4(DNAI1):c.726A>G (p.Glu242=) rs2132065376
NM_012144.4(DNAI1):c.728A>C (p.Lys243Thr)
NM_012144.4(DNAI1):c.732C>G (p.Thr244=)
NM_012144.4(DNAI1):c.732C>T (p.Thr244=) rs947504661
NM_012144.4(DNAI1):c.741G>T (p.Lys247Asn) rs562408105
NM_012144.4(DNAI1):c.747G>A (p.Lys249=) rs764172924
NM_012144.4(DNAI1):c.753G>A (p.Lys251=)
NM_012144.4(DNAI1):c.75G>A (p.Arg25=) rs2132055905
NM_012144.4(DNAI1):c.762G>A (p.Val254=) rs1427393338
NM_012144.4(DNAI1):c.763G>A (p.Ala255Thr)
NM_012144.4(DNAI1):c.771A>G (p.Lys257=) rs761802925
NM_012144.4(DNAI1):c.780G>T (p.Lys260Asn) rs2132065479
NM_012144.4(DNAI1):c.786C>T (p.Ala262=) rs2132065491
NM_012144.4(DNAI1):c.787A>G (p.Met263Val) rs750194621
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr) rs1228318421
NM_012144.4(DNAI1):c.78G>A (p.Lys26=) rs2132055908
NM_012144.4(DNAI1):c.7C>T (p.Pro3Ser)
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe) rs1824648112
NM_012144.4(DNAI1):c.804T>G (p.Ser268=) rs2132065526
NM_012144.4(DNAI1):c.805A>G (p.Met269Val)
NM_012144.4(DNAI1):c.81+11A>G
NM_012144.4(DNAI1):c.81+12G>C
NM_012144.4(DNAI1):c.81+14C>G
NM_012144.4(DNAI1):c.81+18C>T
NM_012144.4(DNAI1):c.816+12G>A
NM_012144.4(DNAI1):c.816+15C>G
NM_012144.4(DNAI1):c.816+16C>G
NM_012144.4(DNAI1):c.816+16C>T
NM_012144.4(DNAI1):c.816+18A>G
NM_012144.4(DNAI1):c.816+19C>T
NM_012144.4(DNAI1):c.816+20A>G
NM_012144.4(DNAI1):c.817-18G>A
NM_012144.4(DNAI1):c.817-2A>G rs2132068900
NM_012144.4(DNAI1):c.817-7C>T rs1587076750
NM_012144.4(DNAI1):c.82-11T>A
NM_012144.4(DNAI1):c.82-11T>C
NM_012144.4(DNAI1):c.82-12G>A rs1824445018
NM_012144.4(DNAI1):c.82-12del
NM_012144.4(DNAI1):c.82-6G>A
NM_012144.4(DNAI1):c.82-8T>C rs1824445067
NM_012144.4(DNAI1):c.825T>C (p.Asp275=)
NM_012144.4(DNAI1):c.82G>T (p.Asp28Tyr)
NM_012144.4(DNAI1):c.831C>T (p.Ile277=) rs139611887
NM_012144.4(DNAI1):c.837G>A (p.Leu279=)
NM_012144.4(DNAI1):c.840C>T (p.Ser280=) rs2132068936
NM_012144.4(DNAI1):c.843A>G (p.Gln281=)
NM_012144.4(DNAI1):c.845C>A (p.Ala282Asp)
NM_012144.4(DNAI1):c.861G>A (p.Glu287=)
NM_012144.4(DNAI1):c.864G>A (p.Arg288=) rs1824742311
NM_012144.4(DNAI1):c.864G>C (p.Arg288=)
NM_012144.4(DNAI1):c.864G>T (p.Arg288=)
NM_012144.4(DNAI1):c.864del (p.Met289fs)
NM_012144.4(DNAI1):c.885_886dup (p.Asp296fs)
NM_012144.4(DNAI1):c.891C>T (p.Asp297=) rs2132069010
NM_012144.4(DNAI1):c.897T>C (p.Ala299=)
NM_012144.4(DNAI1):c.901+12A>T
NM_012144.4(DNAI1):c.901+1G>A
NM_012144.4(DNAI1):c.901+1G>T
NM_012144.4(DNAI1):c.901+20C>A
NM_012144.4(DNAI1):c.901+7G>A
NM_012144.4(DNAI1):c.902-11G>A
NM_012144.4(DNAI1):c.902-13G>A
NM_012144.4(DNAI1):c.902-13G>C
NM_012144.4(DNAI1):c.902-15C>T
NM_012144.4(DNAI1):c.902-16C>G rs2132071917
NM_012144.4(DNAI1):c.902-17G>T
NM_012144.4(DNAI1):c.902-2A>G rs2132071947
NM_012144.4(DNAI1):c.902-6T>C
NM_012144.4(DNAI1):c.903T>G (p.Asp301Glu)
NM_012144.4(DNAI1):c.918C>G (p.Asp306Glu) rs772207177
NM_012144.4(DNAI1):c.92C>G (p.Ser31Ter)
NM_012144.4(DNAI1):c.937C>T (p.Arg313Trp)
NM_012144.4(DNAI1):c.93A>G (p.Ser31=)
NM_012144.4(DNAI1):c.944A>G (p.Gln315Arg)
NM_012144.4(DNAI1):c.944_947dup (p.Thr318fs)
NM_012144.4(DNAI1):c.945G>A (p.Gln315=)
NM_012144.4(DNAI1):c.947dup (p.Thr318fs)
NM_012144.4(DNAI1):c.956T>A (p.Leu319Gln)
NM_012144.4(DNAI1):c.958C>T (p.Leu320=)
NM_012144.4(DNAI1):c.960G>T (p.Leu320=) rs2132072031
NM_012144.4(DNAI1):c.963G>C (p.Pro321=) rs762694599
NM_012144.4(DNAI1):c.963G>T (p.Pro321=) rs762694599
NM_012144.4(DNAI1):c.96G>A (p.Gly32=)
NM_012144.4(DNAI1):c.980A>T (p.Asn327Ile)
NM_012144.4(DNAI1):c.984C>T (p.Asp328=) rs2132072063
NM_012144.4(DNAI1):c.98C>T (p.Thr33Ile) rs2132057312
NM_012144.4(DNAI1):c.990C>G (p.Ala330=)
NM_012144.4(DNAI1):c.994C>T (p.Arg332Cys)
NM_012144.4(DNAI1):c.995G>A (p.Arg332His)

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