ClinVar Miner

List of variants in gene KIDINS220 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 728
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HGVS dbSNP gnomAD frequency
NM_020738.4(KIDINS220):c.604-34C>T rs2356658 0.99316
NM_020738.4(KIDINS220):c.2849-25T>A rs12476359 0.97631
NM_020738.4(KIDINS220):c.2848+31T>A rs4669338 0.94319
NM_020738.4(KIDINS220):c.3717+201T>C rs2067910 0.46386
NM_020738.4(KIDINS220):c.2849-48A>G rs17630893 0.45473
NM_020738.4(KIDINS220):c.3528+107T>A rs1978841 0.45345
NM_020738.4(KIDINS220):c.3011+83A>G rs10929557 0.29069
NM_020738.4(KIDINS220):c.307-179T>G rs17631263 0.27110
NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His) rs1044280 0.26219
NM_020738.4(KIDINS220):c.3190+200A>C rs6431960 0.19977
NM_020738.4(KIDINS220):c.3529-95T>C rs12622593 0.11217
NM_020738.4(KIDINS220):c.3585+95T>C rs3351 0.11050
NM_020738.4(KIDINS220):c.1276+120G>A rs73151205 0.10771
NM_020738.4(KIDINS220):c.3415-198C>T rs7596507 0.09777
NM_020738.4(KIDINS220):c.505-69C>A rs56241236 0.07294
NM_020738.4(KIDINS220):c.3414+63C>T rs56242974 0.07202
NM_020738.4(KIDINS220):c.1000-56C>A rs75269969 0.06882
NM_020738.4(KIDINS220):c.1000-57A>G rs78613101 0.06877
NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=) rs61742863 0.06114
NM_020738.4(KIDINS220):c.603+60G>T rs73151212 0.05931
NM_020738.4(KIDINS220):c.802-179A>G rs78679547 0.03807
NM_020738.4(KIDINS220):c.2703+121A>G rs59450450 0.03632
NM_020738.4(KIDINS220):c.1277-83A>G rs55792681 0.03146
NM_020738.4(KIDINS220):c.5304A>G (p.Glu1768=) rs13406422 0.01960
NM_020738.4(KIDINS220):c.1622-107G>A rs73916006 0.01739
NM_020738.4(KIDINS220):c.900+127C>T rs73916009 0.01720
NM_020738.4(KIDINS220):c.3921C>T (p.Arg1307=) rs76581861 0.01055
NM_020738.4(KIDINS220):c.2217A>G (p.Glu739=) rs114217936 0.00773
NM_020738.4(KIDINS220):c.801+17A>T rs115574143 0.00637
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=) rs61742927 0.00627
NM_020738.4(KIDINS220):c.3896C>G (p.Ala1299Gly) rs76164009 0.00495
NM_020738.4(KIDINS220):c.1068T>C (p.Asp356=) rs115226053 0.00369
NM_020738.4(KIDINS220):c.3834C>T (p.Asn1278=) rs150396643 0.00268
NM_020738.4(KIDINS220):c.1670C>T (p.Ala557Val) rs201557833 0.00198
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_020738.4(KIDINS220):c.3459C>T (p.Gly1153=) rs199913532 0.00162
NM_020738.4(KIDINS220):c.2371-7G>A rs114946239 0.00150
NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu) rs202094672 0.00127
NM_020738.4(KIDINS220):c.3323A>G (p.Asn1108Ser) rs145408226 0.00096
NM_020738.4(KIDINS220):c.2569G>A (p.Val857Ile) rs200104720 0.00093
NM_020738.4(KIDINS220):c.3919C>T (p.Arg1307Cys) rs201958999 0.00071
NM_020738.4(KIDINS220):c.3072T>C (p.Asp1024=) rs372134421 0.00052
NM_020738.4(KIDINS220):c.1099-18C>T rs189545960 0.00047
NM_020738.4(KIDINS220):c.1125T>C (p.Ala375=) rs113991487 0.00047
NM_020738.4(KIDINS220):c.361G>C (p.Glu121Gln) rs181372484 0.00042
NM_020738.4(KIDINS220):c.3012-6134A>G rs563784621 0.00041
NM_020738.4(KIDINS220):c.3175C>T (p.Arg1059Trp) rs184866499 0.00041
NM_020738.4(KIDINS220):c.3847G>A (p.Val1283Met) rs140417878 0.00041
NM_020738.4(KIDINS220):c.3197G>A (p.Arg1066His) rs201273788 0.00036
NM_020738.4(KIDINS220):c.3271G>T (p.Ala1091Ser) rs199962701 0.00034
NM_020738.4(KIDINS220):c.3301G>A (p.Val1101Met) rs561743411 0.00033
NM_020738.4(KIDINS220):c.355G>A (p.Val119Ile) rs200899102 0.00033
NM_020738.4(KIDINS220):c.114C>G (p.Gly38=) rs369671667 0.00028
NM_020738.4(KIDINS220):c.2921A>T (p.Gln974Leu) rs201780168 0.00028
NM_020738.4(KIDINS220):c.1000-12T>G rs368636078 0.00027
NM_020738.4(KIDINS220):c.3886A>G (p.Ser1296Gly) rs201077051 0.00026
NM_020738.4(KIDINS220):c.4369G>T (p.Val1457Phe) rs201478192 0.00026
NM_020738.4(KIDINS220):c.1934C>T (p.Thr645Ile) rs185330217 0.00025
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser) rs77973158 0.00024
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=) rs150868908 0.00021
NM_020738.4(KIDINS220):c.3414+16G>T rs748866882 0.00021
NM_020738.4(KIDINS220):c.4203C>T (p.Pro1401=) rs183360862 0.00021
NM_020738.4(KIDINS220):c.3747G>A (p.Gln1249=) rs766567862 0.00020
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=) rs369693571 0.00018
NM_020738.4(KIDINS220):c.4551A>G (p.Gln1517=) rs200002699 0.00018
NM_020738.4(KIDINS220):c.2553T>C (p.Asn851=) rs377667176 0.00015
NM_020738.4(KIDINS220):c.1098+16G>A rs367848355 0.00014
NM_020738.4(KIDINS220):c.24C>T (p.Ser8=) rs201261765 0.00013
NM_020738.4(KIDINS220):c.948A>G (p.Thr316=) rs539594098 0.00012
NM_020738.4(KIDINS220):c.1594T>C (p.Phe532Leu) rs369544460 0.00011
NM_020738.4(KIDINS220):c.3378C>T (p.Ser1126=) rs776696126 0.00011
NM_020738.4(KIDINS220):c.1690T>C (p.Leu564=) rs181547901 0.00010
NM_020738.4(KIDINS220):c.2000T>C (p.Ile667Thr) rs139252608 0.00010
NM_020738.4(KIDINS220):c.207+3A>G rs374940372 0.00010
NM_020738.4(KIDINS220):c.42G>T (p.Glu14Asp) rs140222575 0.00010
NM_020738.4(KIDINS220):c.1044T>G (p.Ile348Met) rs769877849 0.00009
NM_020738.4(KIDINS220):c.1621+11G>T rs199746581 0.00009
NM_020738.4(KIDINS220):c.1977T>A (p.Ser659=) rs752197124 0.00009
NM_020738.4(KIDINS220):c.3228A>G (p.Gly1076=) rs375000969 0.00009
NM_020738.4(KIDINS220):c.3379G>A (p.Gly1127Ser) rs201693934 0.00009
NM_020738.4(KIDINS220):c.4727C>T (p.Ala1576Val) rs202036173 0.00009
NM_020738.4(KIDINS220):c.801+9T>C rs374732444 0.00009
NM_020738.4(KIDINS220):c.136G>A (p.Ala46Thr) rs188266397 0.00008
NM_020738.4(KIDINS220):c.2089G>A (p.Ala697Thr) rs761044466 0.00007
NM_020738.4(KIDINS220):c.2592C>T (p.Asp864=) rs200719766 0.00007
NM_020738.4(KIDINS220):c.2604A>G (p.Ser868=) rs201853476 0.00007
NM_020738.4(KIDINS220):c.108+16C>T rs376227376 0.00006
NM_020738.4(KIDINS220):c.109-4C>G rs200074000 0.00006
NM_020738.4(KIDINS220):c.1600G>T (p.Ala534Ser) rs199536870 0.00006
NM_020738.4(KIDINS220):c.1603C>A (p.Leu535Ile) rs754563018 0.00006
NM_020738.4(KIDINS220):c.219A>G (p.Thr73=) rs76551578 0.00006
NM_020738.4(KIDINS220):c.237G>A (p.Ser79=) rs181968246 0.00006
NM_020738.4(KIDINS220):c.2704-16C>T rs772500180 0.00006
NM_020738.4(KIDINS220):c.4005G>A (p.Thr1335=) rs376711166 0.00006
NM_020738.4(KIDINS220):c.4566C>T (p.Asp1522=) rs748564095 0.00006
NM_020738.4(KIDINS220):c.1729T>C (p.Leu577=) rs775304274 0.00005
NM_020738.4(KIDINS220):c.2151G>A (p.Ser717=) rs765237146 0.00005
NM_020738.4(KIDINS220):c.3585+4A>G rs767119807 0.00005
NM_020738.4(KIDINS220):c.4305G>T (p.Lys1435Asn) rs776518265 0.00005
NC_000002.12:g.8789873G>T rs376950810 0.00004
NM_020738.4(KIDINS220):c.1098+4A>G rs372119995 0.00004
NM_020738.4(KIDINS220):c.138C>T (p.Ala46=) rs377042462 0.00004
NM_020738.4(KIDINS220):c.1521A>G (p.Leu507=) rs775972992 0.00004
NM_020738.4(KIDINS220):c.1787+19C>A rs374089195 0.00004
NM_020738.4(KIDINS220):c.223C>T (p.Leu75Phe) rs201123643 0.00004
NM_020738.4(KIDINS220):c.2319C>T (p.Ile773=) rs372177879 0.00004
NM_020738.4(KIDINS220):c.3216C>A (p.Ile1072=) rs376785899 0.00004
NM_020738.4(KIDINS220):c.3243G>A (p.Pro1081=) rs376079231 0.00004
NM_020738.4(KIDINS220):c.3572C>G (p.Thr1191Arg) rs888064009 0.00004
NM_020738.4(KIDINS220):c.4064G>A (p.Arg1355His) rs781321317 0.00004
NM_020738.4(KIDINS220):c.1302C>T (p.Asp434=) rs542165847 0.00003
NM_020738.4(KIDINS220):c.1782T>G (p.Pro594=) rs376216731 0.00003
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His) rs368435770 0.00003
NM_020738.4(KIDINS220):c.4450G>C (p.Asp1484His) rs367866337 0.00003
NM_020738.4(KIDINS220):c.4635C>T (p.Ala1545=) rs758116376 0.00003
NM_020738.4(KIDINS220):c.4870G>A (p.Gly1624Arg) rs781524333 0.00003
NM_020738.4(KIDINS220):c.515C>G (p.Thr172Ser) rs745361889 0.00003
NM_020738.4(KIDINS220):c.901-6A>T rs746633746 0.00003
NM_020738.4(KIDINS220):c.2107G>A (p.Ala703Thr) rs747685100 0.00002
NM_020738.4(KIDINS220):c.3029C>G (p.Pro1010Arg) rs769789455 0.00002
NM_020738.4(KIDINS220):c.3441G>A (p.Thr1147=) rs949641812 0.00002
NM_020738.4(KIDINS220):c.3506C>T (p.Pro1169Leu) rs769377695 0.00002
NM_020738.4(KIDINS220):c.3582G>A (p.Ser1194=) rs760127870 0.00002
NM_020738.4(KIDINS220):c.3717+5G>T rs1035925763 0.00002
NM_020738.4(KIDINS220):c.3846C>T (p.His1282=) rs778414071 0.00002
NM_020738.4(KIDINS220):c.4030C>T (p.Arg1344Cys) rs752925928 0.00002
NM_020738.4(KIDINS220):c.4137G>T (p.Val1379=) rs758979348 0.00002
NM_020738.4(KIDINS220):c.4317T>C (p.Ser1439=) rs772542835 0.00002
NM_020738.4(KIDINS220):c.4608G>A (p.Leu1536=) rs780634482 0.00002
NM_020738.4(KIDINS220):c.4876C>T (p.Arg1626Trp) rs757614999 0.00002
NM_020738.4(KIDINS220):c.4926G>T (p.Arg1642=) rs781041882 0.00002
NM_020738.4(KIDINS220):c.889A>G (p.Ile297Val) rs761176180 0.00002
NM_020738.4(KIDINS220):c.1012C>T (p.Pro338Ser) rs1461764281 0.00001
NM_020738.4(KIDINS220):c.1089T>C (p.Ala363=) rs1372968683 0.00001
NM_020738.4(KIDINS220):c.109-14T>G rs767563458 0.00001
NM_020738.4(KIDINS220):c.1276+11A>C rs746500018 0.00001
NM_020738.4(KIDINS220):c.1444G>A (p.Glu482Lys) rs745339879 0.00001
NM_020738.4(KIDINS220):c.1461C>T (p.Ala487=) rs559831416 0.00001
NM_020738.4(KIDINS220):c.1479T>C (p.Pro493=) rs755823098 0.00001
NM_020738.4(KIDINS220):c.148A>G (p.Asn50Asp) rs1165975662 0.00001
NM_020738.4(KIDINS220):c.1511T>C (p.Leu504Pro) rs1672973671 0.00001
NM_020738.4(KIDINS220):c.174T>G (p.Ile58Met) rs369363850 0.00001
NM_020738.4(KIDINS220):c.1806C>T (p.Tyr602=) rs200916069 0.00001
NM_020738.4(KIDINS220):c.1866G>A (p.Ser622=) rs1206695052 0.00001
NM_020738.4(KIDINS220):c.1939+18C>T rs768791085 0.00001
NM_020738.4(KIDINS220):c.2013A>G (p.Ile671Met) rs1027937916 0.00001
NM_020738.4(KIDINS220):c.207+10A>G rs758740926 0.00001
NM_020738.4(KIDINS220):c.2126G>A (p.Arg709His) rs562912294 0.00001
NM_020738.4(KIDINS220):c.2229+20T>C rs748543105 0.00001
NM_020738.4(KIDINS220):c.2370+4C>T rs749156024 0.00001
NM_020738.4(KIDINS220):c.246G>A (p.Gly82=) rs754259960 0.00001
NM_020738.4(KIDINS220):c.2649G>T (p.Gln883His) rs775451553 0.00001
NM_020738.4(KIDINS220):c.2721G>A (p.Arg907=) rs1449846348 0.00001
NM_020738.4(KIDINS220):c.2741C>T (p.Thr914Ile) rs1444405120 0.00001
NM_020738.4(KIDINS220):c.2751G>A (p.Met917Ile) rs201276457 0.00001
NM_020738.4(KIDINS220):c.2849-11T>G rs1218520142 0.00001
NM_020738.4(KIDINS220):c.3139T>C (p.Phe1047Leu) rs776465715 0.00001
NM_020738.4(KIDINS220):c.3195T>C (p.Val1065=) rs1246834307 0.00001
NM_020738.4(KIDINS220):c.3242C>T (p.Pro1081Leu) rs373415558 0.00001
NM_020738.4(KIDINS220):c.3315G>A (p.Thr1105=) rs542549735 0.00001
NM_020738.4(KIDINS220):c.3581C>T (p.Ser1194Leu) rs549702212 0.00001
NM_020738.4(KIDINS220):c.3585+1G>A rs775189420 0.00001
NM_020738.4(KIDINS220):c.3819A>G (p.Val1273=) rs376288208 0.00001
NM_020738.4(KIDINS220):c.3922G>A (p.Ala1308Thr) rs748016243 0.00001
NM_020738.4(KIDINS220):c.3948C>T (p.Thr1316=) rs201123761 0.00001
NM_020738.4(KIDINS220):c.3949G>A (p.Glu1317Lys) rs374748463 0.00001
NM_020738.4(KIDINS220):c.3971A>G (p.Tyr1324Cys) rs747809218 0.00001
NM_020738.4(KIDINS220):c.4167A>C (p.Glu1389Asp) rs886588528 0.00001
NM_020738.4(KIDINS220):c.4230T>G (p.Ser1410=) rs1489044540 0.00001
NM_020738.4(KIDINS220):c.4524G>A (p.Lys1508=) rs1184901822 0.00001
NM_020738.4(KIDINS220):c.4658C>T (p.Pro1553Leu) rs76169344 0.00001
NM_020738.4(KIDINS220):c.4877G>A (p.Arg1626Gln) rs1207262678 0.00001
NM_020738.4(KIDINS220):c.5055G>A (p.Leu1685=) rs778914249 0.00001
NM_020738.4(KIDINS220):c.5151C>T (p.Ser1717=) rs368542023 0.00001
NM_020738.4(KIDINS220):c.5249C>T (p.Pro1750Leu) rs760510804 0.00001
NM_020738.4(KIDINS220):c.5250G>A (p.Pro1750=) rs775392168 0.00001
NM_020738.4(KIDINS220):c.603+11T>C rs1675440180 0.00001
NM_020738.4(KIDINS220):c.670A>G (p.Lys224Glu) rs760846299 0.00001
NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met) rs771589853 0.00001
NM_020738.4(KIDINS220):c.876T>C (p.Tyr292=) rs755294265 0.00001
NM_020738.4(KIDINS220):c.900+7G>A rs1674526737 0.00001
GRCh37/hg19 2p25.1(chr2:8833459-8925211)x1
NC_000002.11:g.(?_8946381)_(8946519_?)del
NM_020738.4(KIDINS220):c.1005T>C (p.Gly335=)
NM_020738.4(KIDINS220):c.1029C>G (p.Thr343=) rs762655489
NM_020738.4(KIDINS220):c.1032G>A (p.Lys344=)
NM_020738.4(KIDINS220):c.1038A>G (p.Arg346=)
NM_020738.4(KIDINS220):c.1040A>G (p.Asn347Ser)
NM_020738.4(KIDINS220):c.1065A>G (p.Leu355=)
NM_020738.4(KIDINS220):c.1070A>G (p.Lys357Arg)
NM_020738.4(KIDINS220):c.1088C>G (p.Ala363Gly)
NM_020738.4(KIDINS220):c.109-11A>G rs2148401817
NM_020738.4(KIDINS220):c.109-14T>C
NM_020738.4(KIDINS220):c.109-16C>G
NM_020738.4(KIDINS220):c.109-8T>C
NM_020738.4(KIDINS220):c.1098+15C>T
NM_020738.4(KIDINS220):c.1120A>T (p.Ile374Phe)
NM_020738.4(KIDINS220):c.112G>A (p.Gly38Ser)
NM_020738.4(KIDINS220):c.1177G>T (p.Asp393Tyr)
NM_020738.4(KIDINS220):c.1182G>A (p.Gly394=)
NM_020738.4(KIDINS220):c.1213G>A (p.Glu405Lys)
NM_020738.4(KIDINS220):c.1235G>A (p.Cys412Tyr)
NM_020738.4(KIDINS220):c.1243C>G (p.Gln415Glu)
NM_020738.4(KIDINS220):c.1259C>T (p.Thr420Ile)
NM_020738.4(KIDINS220):c.1263_1264del (p.Gln421fs)
NM_020738.4(KIDINS220):c.1265T>G (p.Ile422Arg)
NM_020738.4(KIDINS220):c.1276+17_1276+25del
NM_020738.4(KIDINS220):c.1277-18G>A
NM_020738.4(KIDINS220):c.1277-28_1277-24del rs145172075
NM_020738.4(KIDINS220):c.1278A>G (p.Arg426=)
NM_020738.4(KIDINS220):c.1286C>G (p.Ser429Cys)
NM_020738.4(KIDINS220):c.1289C>T (p.Pro430Leu)
NM_020738.4(KIDINS220):c.1337C>T (p.Ala446Val)
NM_020738.4(KIDINS220):c.1339C>T (p.Leu447=)
NM_020738.4(KIDINS220):c.1371G>A (p.Gln457=)
NM_020738.4(KIDINS220):c.1375C>T (p.Pro459Ser)
NM_020738.4(KIDINS220):c.1381T>G (p.Cys461Gly)
NM_020738.4(KIDINS220):c.1384G>A (p.Val462Met)
NM_020738.4(KIDINS220):c.1388G>T (p.Gly463Val)
NM_020738.4(KIDINS220):c.1389G>C (p.Gly463=)
NM_020738.4(KIDINS220):c.1428C>G (p.Leu476=)
NM_020738.4(KIDINS220):c.1430A>G (p.Lys477Arg)
NM_020738.4(KIDINS220):c.1434A>G (p.Lys478=)
NM_020738.4(KIDINS220):c.1442-19G>A
NM_020738.4(KIDINS220):c.1443C>T (p.Asp481=)
NM_020738.4(KIDINS220):c.1444G>C (p.Glu482Gln)
NM_020738.4(KIDINS220):c.1464A>C (p.Gly488=)
NM_020738.4(KIDINS220):c.1480C>T (p.Leu494Phe)
NM_020738.4(KIDINS220):c.1487A>G (p.Gln496Arg) rs1269613060
NM_020738.4(KIDINS220):c.1494A>G (p.Ser498=)
NM_020738.4(KIDINS220):c.149A>G (p.Asn50Ser)
NM_020738.4(KIDINS220):c.1501A>G (p.Ile501Val)
NM_020738.4(KIDINS220):c.1503A>G (p.Ile501Met)
NM_020738.4(KIDINS220):c.1520T>A (p.Leu507Gln)
NM_020738.4(KIDINS220):c.1520T>C (p.Leu507Pro)
NM_020738.4(KIDINS220):c.1528G>A (p.Gly510Arg)
NM_020738.4(KIDINS220):c.153G>A (p.Leu51=)
NM_020738.4(KIDINS220):c.1542A>G (p.Leu514=)
NM_020738.4(KIDINS220):c.1549G>A (p.Ala517Thr)
NM_020738.4(KIDINS220):c.154G>A (p.Glu52Lys)
NM_020738.4(KIDINS220):c.1556C>T (p.Thr519Met)
NM_020738.4(KIDINS220):c.1557G>A (p.Thr519=)
NM_020738.4(KIDINS220):c.1585T>A (p.Ser529Thr)
NM_020738.4(KIDINS220):c.1598T>G (p.Leu533Trp)
NM_020738.4(KIDINS220):c.159A>G (p.Ile53Met) rs2148401522
NM_020738.4(KIDINS220):c.1621+17T>C
NM_020738.4(KIDINS220):c.1635T>C (p.Phe545=)
NM_020738.4(KIDINS220):c.168A>G (p.Glu56=)
NM_020738.4(KIDINS220):c.1692G>C (p.Leu564Phe)
NM_020738.4(KIDINS220):c.1704T>G (p.Ile568Met)
NM_020738.4(KIDINS220):c.1719C>T (p.Leu573=)
NM_020738.4(KIDINS220):c.1738G>A (p.Val580Met)
NM_020738.4(KIDINS220):c.1747C>T (p.Pro583Ser)
NM_020738.4(KIDINS220):c.175A>G (p.Lys59Glu)
NM_020738.4(KIDINS220):c.1787+19C>T rs374089195
NM_020738.4(KIDINS220):c.1787+3_1787+6dup
NM_020738.4(KIDINS220):c.1788-8T>C
NM_020738.4(KIDINS220):c.1790T>C (p.Phe597Ser)
NM_020738.4(KIDINS220):c.1835C>T (p.Thr612Ile)
NM_020738.4(KIDINS220):c.1840C>G (p.Leu614Val)
NM_020738.4(KIDINS220):c.1850T>C (p.Met617Thr)
NM_020738.4(KIDINS220):c.1854T>C (p.Ile618=)
NM_020738.4(KIDINS220):c.1858A>G (p.Thr620Ala)
NM_020738.4(KIDINS220):c.1865C>T (p.Ser622Leu)
NM_020738.4(KIDINS220):c.1900A>G (p.Thr634Ala)
NM_020738.4(KIDINS220):c.1901C>T (p.Thr634Ile)
NM_020738.4(KIDINS220):c.1905G>A (p.Arg635=) rs2148248219
NM_020738.4(KIDINS220):c.1906C>G (p.Leu636Val)
NM_020738.4(KIDINS220):c.1939+14C>T
NM_020738.4(KIDINS220):c.1940-16A>G
NM_020738.4(KIDINS220):c.1940-18C>T
NM_020738.4(KIDINS220):c.1959A>C (p.Lys653Asn)
NM_020738.4(KIDINS220):c.1959A>T (p.Lys653Asn)
NM_020738.4(KIDINS220):c.1960del (p.Thr654fs)
NM_020738.4(KIDINS220):c.1967G>T (p.Cys656Phe)
NM_020738.4(KIDINS220):c.1974A>G (p.Pro658=)
NM_020738.4(KIDINS220):c.2010T>C (p.Ile670=)
NM_020738.4(KIDINS220):c.2020A>G (p.Ile674Val)
NM_020738.4(KIDINS220):c.2064T>C (p.Thr688=)
NM_020738.4(KIDINS220):c.2069A>G (p.Asn690Ser)
NM_020738.4(KIDINS220):c.208-2A>G
NM_020738.4(KIDINS220):c.2086A>G (p.Ile696Val)
NM_020738.4(KIDINS220):c.2108C>T (p.Ala703Val)
NM_020738.4(KIDINS220):c.2109C>T (p.Ala703=)
NM_020738.4(KIDINS220):c.2126G>C (p.Arg709Pro)
NM_020738.4(KIDINS220):c.2130A>C (p.Thr710=) rs1572649777
NM_020738.4(KIDINS220):c.2146G>T (p.Asp716Tyr)
NM_020738.4(KIDINS220):c.2155C>T (p.Leu719=)
NM_020738.4(KIDINS220):c.2162C>T (p.Ser721Phe)
NM_020738.4(KIDINS220):c.2173C>T (p.Arg725Cys)
NM_020738.4(KIDINS220):c.2174G>A (p.Arg725His)
NM_020738.4(KIDINS220):c.2185G>A (p.Ala729Thr)
NM_020738.4(KIDINS220):c.2210A>G (p.Lys737Arg)
NM_020738.4(KIDINS220):c.2229+12T>C
NM_020738.4(KIDINS220):c.2229+6C>A
NM_020738.4(KIDINS220):c.2230G>C (p.Val744Leu) rs1476077868
NM_020738.4(KIDINS220):c.226A>G (p.Ile76Val) rs2148397435
NM_020738.4(KIDINS220):c.227T>C (p.Ile76Thr)
NM_020738.4(KIDINS220):c.2301A>G (p.Thr767=)
NM_020738.4(KIDINS220):c.2308G>A (p.Val770Met)
NM_020738.4(KIDINS220):c.2320G>A (p.Asp774Asn)
NM_020738.4(KIDINS220):c.2337T>C (p.Cys779=)
NM_020738.4(KIDINS220):c.2343G>A (p.Gln781=)
NM_020738.4(KIDINS220):c.2350G>A (p.Val784Ile)
NM_020738.4(KIDINS220):c.2370+11G>A rs376361503
NM_020738.4(KIDINS220):c.2370+20A>G
NM_020738.4(KIDINS220):c.2370+4C>A
NM_020738.4(KIDINS220):c.2370T>G (p.Thr790=)
NM_020738.4(KIDINS220):c.2371-18A>T rs1023373062
NM_020738.4(KIDINS220):c.2374C>T (p.Arg792Ter)
NM_020738.4(KIDINS220):c.2397G>A (p.Pro799=)
NM_020738.4(KIDINS220):c.23G>A (p.Ser8Asn)
NM_020738.4(KIDINS220):c.2401A>G (p.Ile801Val) rs1468255671
NM_020738.4(KIDINS220):c.2415A>G (p.Ala805=)
NM_020738.4(KIDINS220):c.2452A>C (p.Asn818His)
NM_020738.4(KIDINS220):c.2454C>T (p.Asn818=)
NM_020738.4(KIDINS220):c.2459A>G (p.Asn820Ser)
NM_020738.4(KIDINS220):c.2499C>T (p.Tyr833=)
NM_020738.4(KIDINS220):c.2503C>T (p.Arg835Cys)
NM_020738.4(KIDINS220):c.2533A>G (p.Asn845Asp)
NM_020738.4(KIDINS220):c.2539C>T (p.Arg847Cys)
NM_020738.4(KIDINS220):c.2540G>A (p.Arg847His)
NM_020738.4(KIDINS220):c.2549G>A (p.Ser850Asn)
NM_020738.4(KIDINS220):c.2561A>C (p.Lys854Thr)
NM_020738.4(KIDINS220):c.2566C>A (p.Leu856Ile)
NM_020738.4(KIDINS220):c.256A>T (p.Ile86Phe)
NM_020738.4(KIDINS220):c.2574T>C (p.Thr858=)
NM_020738.4(KIDINS220):c.2585A>T (p.Asn862Ile)
NM_020738.4(KIDINS220):c.258C>T (p.Ile86=)
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
NM_020738.4(KIDINS220):c.2597C>G (p.Pro866Arg)
NM_020738.4(KIDINS220):c.25G>A (p.Val9Ile)
NM_020738.4(KIDINS220):c.2612C>T (p.Thr871Ile)
NM_020738.4(KIDINS220):c.2615-14A>G rs2148206477
NM_020738.4(KIDINS220):c.2615-6_2672del
NM_020738.4(KIDINS220):c.2616G>A (p.Gly872=)
NM_020738.4(KIDINS220):c.2617A>G (p.Ile873Val)
NM_020738.4(KIDINS220):c.2621A>G (p.Gln874Arg)
NM_020738.4(KIDINS220):c.2658T>C (p.Leu886=)
NM_020738.4(KIDINS220):c.2669C>T (p.Thr890Ile)
NM_020738.4(KIDINS220):c.2670A>G (p.Thr890=)
NM_020738.4(KIDINS220):c.2683A>G (p.Lys895Glu)
NM_020738.4(KIDINS220):c.2692C>T (p.Leu898Phe)
NM_020738.4(KIDINS220):c.2703+19C>T
NM_020738.4(KIDINS220):c.2703+7T>C
NM_020738.4(KIDINS220):c.2704-12G>A
NM_020738.4(KIDINS220):c.2704-13C>T
NM_020738.4(KIDINS220):c.2704-15G>A
NM_020738.4(KIDINS220):c.2704-3C>T
NM_020738.4(KIDINS220):c.2726T>A (p.Met909Lys)
NM_020738.4(KIDINS220):c.2737A>G (p.Ile913Val)
NM_020738.4(KIDINS220):c.2744G>A (p.Arg915His)
NM_020738.4(KIDINS220):c.2744G>T (p.Arg915Leu)
NM_020738.4(KIDINS220):c.2760T>A (p.Asp920Glu)
NM_020738.4(KIDINS220):c.2766A>G (p.Thr922=) rs1016138614
NM_020738.4(KIDINS220):c.2776G>A (p.Val926Ile)
NM_020738.4(KIDINS220):c.2781C>T (p.Thr927=) rs2304590
NM_020738.4(KIDINS220):c.2782G>A (p.Glu928Lys)
NM_020738.4(KIDINS220):c.2787C>T (p.Asp929=) rs2148196114
NM_020738.4(KIDINS220):c.2790G>C (p.Trp930Cys)
NM_020738.4(KIDINS220):c.2804G>A (p.Ser935Asn)
NM_020738.4(KIDINS220):c.2807C>G (p.Pro936Arg) rs202054411
NM_020738.4(KIDINS220):c.2807C>T (p.Pro936Leu) rs202054411
NM_020738.4(KIDINS220):c.2856A>C (p.Leu952Phe)
NM_020738.4(KIDINS220):c.2864C>G (p.Ala955Gly)
NM_020738.4(KIDINS220):c.2871G>C (p.Gln957His)
NM_020738.4(KIDINS220):c.2880C>G (p.Phe960Leu)
NM_020738.4(KIDINS220):c.2882A>G (p.Asn961Ser)
NM_020738.4(KIDINS220):c.28A>C (p.Ile10Leu)
NM_020738.4(KIDINS220):c.2932C>A (p.Arg978=) rs759694870
NM_020738.4(KIDINS220):c.2940A>G (p.Ser980=)
NM_020738.4(KIDINS220):c.2943G>T (p.Trp981Cys) rs2148161158
NM_020738.4(KIDINS220):c.2965A>G (p.Thr989Ala)
NM_020738.4(KIDINS220):c.2972G>C (p.Gly991Ala)
NM_020738.4(KIDINS220):c.2977C>T (p.Pro993Ser)
NM_020738.4(KIDINS220):c.2978C>T (p.Pro993Leu)
NM_020738.4(KIDINS220):c.298C>T (p.Arg100Cys)
NM_020738.4(KIDINS220):c.2991A>T (p.Thr997=)
NM_020738.4(KIDINS220):c.2999C>T (p.Thr1000Ile)
NM_020738.4(KIDINS220):c.3005A>G (p.Tyr1002Cys) rs2148160841
NM_020738.4(KIDINS220):c.3011+11T>C
NM_020738.4(KIDINS220):c.3011+48dup rs57679000
NM_020738.4(KIDINS220):c.3011+63del rs57679000
NM_020738.4(KIDINS220):c.3012-3dup rs771515359
NM_020738.4(KIDINS220):c.3027T>A (p.Ile1009=)
NM_020738.4(KIDINS220):c.3050C>G (p.Pro1017Arg) rs2148054514
NM_020738.4(KIDINS220):c.3056T>C (p.Leu1019Pro)
NM_020738.4(KIDINS220):c.306+4T>C rs531282558
NM_020738.4(KIDINS220):c.3061A>T (p.Ile1021Phe)
NM_020738.4(KIDINS220):c.3065A>G (p.Asp1022Gly)
NM_020738.4(KIDINS220):c.307-11T>G
NM_020738.4(KIDINS220):c.307-15A>G
NM_020738.4(KIDINS220):c.3074T>C (p.Ile1025Thr)
NM_020738.4(KIDINS220):c.3125G>A (p.Arg1042Gln)
NM_020738.4(KIDINS220):c.3138C>A (p.Val1046=)
NM_020738.4(KIDINS220):c.3144G>A (p.Leu1048=)
NM_020738.4(KIDINS220):c.3148T>C (p.Cys1050Arg)
NM_020738.4(KIDINS220):c.3168C>T (p.Pro1056=)
NM_020738.4(KIDINS220):c.3190+13A>G
NM_020738.4(KIDINS220):c.3191-18T>C
NM_020738.4(KIDINS220):c.3191-19G>A
NM_020738.4(KIDINS220):c.3192T>C (p.Asp1064=)
NM_020738.4(KIDINS220):c.3197G>C (p.Arg1066Pro)
NM_020738.4(KIDINS220):c.3211C>G (p.Gln1071Glu)
NM_020738.4(KIDINS220):c.3216C>G (p.Ile1072Met)
NM_020738.4(KIDINS220):c.3232G>A (p.Ala1078Thr)
NM_020738.4(KIDINS220):c.3240C>G (p.Pro1080=)
NM_020738.4(KIDINS220):c.3242C>A (p.Pro1081Gln)
NM_020738.4(KIDINS220):c.3254A>G (p.His1085Arg)
NM_020738.4(KIDINS220):c.3259G>A (p.Gly1087Ser) rs1349886265
NM_020738.4(KIDINS220):c.3260G>A (p.Gly1087Asp)
NM_020738.4(KIDINS220):c.3270G>A (p.Arg1090=)
NM_020738.4(KIDINS220):c.3272C>T (p.Ala1091Val)
NM_020738.4(KIDINS220):c.3278C>T (p.Ser1093Leu)
NM_020738.4(KIDINS220):c.3279A>T (p.Ser1093=)
NM_020738.4(KIDINS220):c.3281G>C (p.Gly1094Ala)
NM_020738.4(KIDINS220):c.3282G>T (p.Gly1094=)
NM_020738.4(KIDINS220):c.3295C>A (p.Pro1099Thr)
NM_020738.4(KIDINS220):c.3300C>T (p.Ser1100=)
NM_020738.4(KIDINS220):c.3314C>T (p.Thr1105Met)
NM_020738.4(KIDINS220):c.331G>A (p.Ala111Thr) rs2148377490
NM_020738.4(KIDINS220):c.3330C>T (p.Pro1110=) rs544771878
NM_020738.4(KIDINS220):c.3333C>T (p.Phe1111=)
NM_020738.4(KIDINS220):c.3334G>A (p.Ala1112Thr)
NM_020738.4(KIDINS220):c.3334G>T (p.Ala1112Ser)
NM_020738.4(KIDINS220):c.3347T>A (p.Val1116Glu)
NM_020738.4(KIDINS220):c.3352C>G (p.Pro1118Ala)
NM_020738.4(KIDINS220):c.3365G>A (p.Ser1122Asn)
NM_020738.4(KIDINS220):c.3367A>G (p.Ser1123Gly)
NM_020738.4(KIDINS220):c.3371A>G (p.Tyr1124Cys)
NM_020738.4(KIDINS220):c.3374dup (p.Tyr1125Ter)
NM_020738.4(KIDINS220):c.3386C>T (p.Thr1129Met)
NM_020738.4(KIDINS220):c.3387G>A (p.Thr1129=)
NM_020738.4(KIDINS220):c.3403T>A (p.Phe1135Ile)
NM_020738.4(KIDINS220):c.3414+17C>T
NM_020738.4(KIDINS220):c.3415-14A>G
NM_020738.4(KIDINS220):c.3415-15C>A
NM_020738.4(KIDINS220):c.3433C>A (p.Leu1145Ile)
NM_020738.4(KIDINS220):c.3436_3443dup (p.Arg1149fs) rs1311041431
NM_020738.4(KIDINS220):c.3438C>T (p.Tyr1146=)
NM_020738.4(KIDINS220):c.3442C>T (p.Pro1148Ser)
NM_020738.4(KIDINS220):c.3448T>C (p.Tyr1150His)
NM_020738.4(KIDINS220):c.3457G>C (p.Gly1153Arg)
NM_020738.4(KIDINS220):c.3460G>A (p.Gly1154Ser)
NM_020738.4(KIDINS220):c.3463T>C (p.Ser1155Pro)
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
NM_020738.4(KIDINS220):c.3472C>T (p.Leu1158Phe)
NM_020738.4(KIDINS220):c.3477C>T (p.Ile1159=)
NM_020738.4(KIDINS220):c.3481C>T (p.Arg1161Cys)
NM_020738.4(KIDINS220):c.3482G>A (p.Arg1161His)
NM_020738.4(KIDINS220):c.3497C>T (p.Thr1166Met)
NM_020738.4(KIDINS220):c.3508A>G (p.Arg1170Gly)
NM_020738.4(KIDINS220):c.3528+7A>C
NM_020738.4(KIDINS220):c.3528+8T>C
NM_020738.4(KIDINS220):c.3529-12T>C
NM_020738.4(KIDINS220):c.3529-18C>T
NM_020738.4(KIDINS220):c.3529-5G>T
NM_020738.4(KIDINS220):c.3529-73A>G rs60592986
NM_020738.4(KIDINS220):c.3535A>G (p.Ile1179Val)
NM_020738.4(KIDINS220):c.354C>T (p.Asp118=)
NM_020738.4(KIDINS220):c.3571A>T (p.Thr1191Ser)
NM_020738.4(KIDINS220):c.357A>C (p.Val119=)
NM_020738.4(KIDINS220):c.3585+2T>C
NM_020738.4(KIDINS220):c.3586-18T>A
NM_020738.4(KIDINS220):c.3586-3162A>G
NM_020738.4(KIDINS220):c.3586-3183G>A
NM_020738.4(KIDINS220):c.3589_3593del (p.Ser1197fs) rs1572428834
NM_020738.4(KIDINS220):c.358G>A (p.Val120Ile)
NM_020738.4(KIDINS220):c.3590C>T (p.Ser1197Leu)
NM_020738.4(KIDINS220):c.3606C>T (p.Gly1202=)
NM_020738.4(KIDINS220):c.3612G>A (p.Val1204=)
NM_020738.4(KIDINS220):c.3613G>A (p.Val1205Ile)
NM_020738.4(KIDINS220):c.3617T>C (p.Leu1206Ser)
NM_020738.4(KIDINS220):c.3643G>A (p.Val1215Ile)
NM_020738.4(KIDINS220):c.3645A>G (p.Val1215=) rs2147975678
NM_020738.4(KIDINS220):c.366G>A (p.Leu122=)
NM_020738.4(KIDINS220):c.3679C>G (p.Gln1227Glu)
NM_020738.4(KIDINS220):c.3681G>A (p.Gln1227=)
NM_020738.4(KIDINS220):c.3695A>G (p.Gln1232Arg)
NM_020738.4(KIDINS220):c.36T>C (p.Tyr12=)
NM_020738.4(KIDINS220):c.3706A>G (p.Thr1236Ala)
NM_020738.4(KIDINS220):c.3717+11C>T
NM_020738.4(KIDINS220):c.3718-12A>G
NM_020738.4(KIDINS220):c.3718-7del
NM_020738.4(KIDINS220):c.3732C>T (p.Gly1244=)
NM_020738.4(KIDINS220):c.3734G>A (p.Arg1245His)
NM_020738.4(KIDINS220):c.3754A>G (p.Ile1252Val) rs377648666
NM_020738.4(KIDINS220):c.376C>A (p.His126Asn)
NM_020738.4(KIDINS220):c.3774G>A (p.Glu1258=)
NM_020738.4(KIDINS220):c.377A>T (p.His126Leu)
NM_020738.4(KIDINS220):c.378T>C (p.His126=)
NM_020738.4(KIDINS220):c.3812G>C (p.Ser1271Thr)
NM_020738.4(KIDINS220):c.3814A>G (p.Thr1272Ala) rs2147963581
NM_020738.4(KIDINS220):c.3820C>T (p.Leu1274=) rs1256415921
NM_020738.4(KIDINS220):c.3835G>A (p.Ala1279Thr)
NM_020738.4(KIDINS220):c.3845A>G (p.His1282Arg)
NM_020738.4(KIDINS220):c.3864A>G (p.Pro1288=)
NM_020738.4(KIDINS220):c.3865C>T (p.Arg1289Cys)
NM_020738.4(KIDINS220):c.3874dup (p.Ser1292fs)
NM_020738.4(KIDINS220):c.387T>C (p.Asn129=)
NM_020738.4(KIDINS220):c.3899C>T (p.Pro1300Leu)
NM_020738.4(KIDINS220):c.3904G>A (p.Gly1302Ser)
NM_020738.4(KIDINS220):c.3917G>A (p.Arg1306His)
NM_020738.4(KIDINS220):c.3920G>T (p.Arg1307Leu) rs2304591
NM_020738.4(KIDINS220):c.3922_3923del (p.Ala1308fs) rs2147956203
NM_020738.4(KIDINS220):c.3926C>A (p.Ser1309Tyr)
NM_020738.4(KIDINS220):c.3933C>T (p.Asn1311=)
NM_020738.4(KIDINS220):c.3934G>A (p.Glu1312Lys)
NM_020738.4(KIDINS220):c.3934G>T (p.Glu1312Ter)
NM_020738.4(KIDINS220):c.3945C>T (p.His1315=)
NM_020738.4(KIDINS220):c.3949G>T (p.Glu1317Ter)
NM_020738.4(KIDINS220):c.3958dup (p.Ser1320fs)
NM_020738.4(KIDINS220):c.3964A>T (p.Thr1322Ser)
NM_020738.4(KIDINS220):c.3965C>T (p.Thr1322Met)
NM_020738.4(KIDINS220):c.3969C>T (p.Pro1323=)
NM_020738.4(KIDINS220):c.3975A>G (p.Thr1325=)
NM_020738.4(KIDINS220):c.3975A>T (p.Thr1325=)
NM_020738.4(KIDINS220):c.3976C>T (p.Leu1326Phe)
NM_020738.4(KIDINS220):c.397A>G (p.Thr133Ala)
NM_020738.4(KIDINS220):c.3990C>T (p.Phe1330=)
NM_020738.4(KIDINS220):c.3991G>A (p.Glu1331Lys)
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter) rs1664428695
NM_020738.4(KIDINS220):c.3994G>T (p.Glu1332Ter) rs1664428364
NM_020738.4(KIDINS220):c.4004C>T (p.Thr1335Met)
NM_020738.4(KIDINS220):c.4005G>C (p.Thr1335=) rs376711166
NM_020738.4(KIDINS220):c.4040A>G (p.Asn1347Ser)
NM_020738.4(KIDINS220):c.4040del (p.Asn1347fs)
NM_020738.4(KIDINS220):c.4043T>G (p.Leu1348Arg)
NM_020738.4(KIDINS220):c.405+12C>T
NM_020738.4(KIDINS220):c.405+3A>G
NM_020738.4(KIDINS220):c.4053+12A>G
NM_020738.4(KIDINS220):c.4053+2dup
NM_020738.4(KIDINS220):c.4053+7A>G
NM_020738.4(KIDINS220):c.4053+8T>C
NM_020738.4(KIDINS220):c.4054-13dup
NM_020738.4(KIDINS220):c.4054-1G>A rs2147947336
NM_020738.4(KIDINS220):c.4054-2del rs2147947360
NM_020738.4(KIDINS220):c.405G>T (p.Leu135=)
NM_020738.4(KIDINS220):c.4063C>T (p.Arg1355Cys)
NM_020738.4(KIDINS220):c.4082C>T (p.Ser1361Leu)
NM_020738.4(KIDINS220):c.4083G>A (p.Ser1361=)
NM_020738.4(KIDINS220):c.4143C>T (p.Ala1381=)
NM_020738.4(KIDINS220):c.4148A>G (p.Tyr1383Cys)
NM_020738.4(KIDINS220):c.4160A>G (p.Tyr1387Cys)
NM_020738.4(KIDINS220):c.4172T>A (p.Ile1391Asn)
NM_020738.4(KIDINS220):c.4174G>T (p.Ala1392Ser)
NM_020738.4(KIDINS220):c.4199G>C (p.Gly1400Ala)
NM_020738.4(KIDINS220):c.4199G>T (p.Gly1400Val)
NM_020738.4(KIDINS220):c.4200C>A (p.Gly1400=) rs1664155999
NM_020738.4(KIDINS220):c.4203_4204delinsTA (p.Gly1402Arg)
NM_020738.4(KIDINS220):c.4204G>A (p.Gly1402Arg)
NM_020738.4(KIDINS220):c.4239T>C (p.His1413=)
NM_020738.4(KIDINS220):c.4252A>G (p.Met1418Val) rs763663946
NM_020738.4(KIDINS220):c.4255G>C (p.Gly1419Arg)
NM_020738.4(KIDINS220):c.4269A>G (p.Ser1423=)
NM_020738.4(KIDINS220):c.4269del (p.Gly1425fs)
NM_020738.4(KIDINS220):c.4274G>C (p.Gly1425Ala)
NM_020738.4(KIDINS220):c.4276del (p.Ser1426fs) rs1572403809
NM_020738.4(KIDINS220):c.4292_4293del (p.Leu1431fs) rs2147946042
NM_020738.4(KIDINS220):c.42G>A (p.Glu14=)
NM_020738.4(KIDINS220):c.4311G>T (p.Lys1437Asn)
NM_020738.4(KIDINS220):c.4314T>C (p.Asp1438=)
NM_020738.4(KIDINS220):c.4336G>A (p.Gly1446Arg)
NM_020738.4(KIDINS220):c.4363G>T (p.Gly1455Ter)
NM_020738.4(KIDINS220):c.4370T>C (p.Val1457Ala)
NM_020738.4(KIDINS220):c.4374C>T (p.Ile1458=) rs1382616376
NM_020738.4(KIDINS220):c.4379A>G (p.Tyr1460Cys)
NM_020738.4(KIDINS220):c.4384T>G (p.Ser1462Ala) rs773234909
NM_020738.4(KIDINS220):c.4388C>G (p.Ser1463Ter)
NM_020738.4(KIDINS220):c.4390G>C (p.Gly1464Arg) rs2147945410
NM_020738.4(KIDINS220):c.4393G>A (p.Val1465Ile)
NM_020738.4(KIDINS220):c.4402A>G (p.Asn1468Asp)
NM_020738.4(KIDINS220):c.4404C>T (p.Asn1468=)
NM_020738.4(KIDINS220):c.4406A>G (p.Asp1469Gly)
NM_020738.4(KIDINS220):c.4410T>C (p.Ala1470=)
NM_020738.4(KIDINS220):c.4411T>C (p.Ser1471Pro)
NM_020738.4(KIDINS220):c.4416C>G (p.Pro1472=)
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs) rs34141362
NM_020738.4(KIDINS220):c.4418del (p.Leu1473fs)
NM_020738.4(KIDINS220):c.4456T>C (p.Ser1486Pro)
NM_020738.4(KIDINS220):c.4473C>T (p.Leu1491=)
NM_020738.4(KIDINS220):c.4481A>G (p.Lys1494Arg)
NM_020738.4(KIDINS220):c.4485A>G (p.Lys1495=)
NM_020738.4(KIDINS220):c.4487C>G (p.Ser1496Cys)
NM_020738.4(KIDINS220):c.4490C>A (p.Ser1497Tyr)
NM_020738.4(KIDINS220):c.4491C>T (p.Ser1497=)
NM_020738.4(KIDINS220):c.4502G>A (p.Ser1501Asn)
NM_020738.4(KIDINS220):c.4503C>A (p.Ser1501Arg)
NM_020738.4(KIDINS220):c.4503C>G (p.Ser1501Arg)
NM_020738.4(KIDINS220):c.4504C>G (p.Leu1502Val) rs754570546
NM_020738.4(KIDINS220):c.4505T>A (p.Leu1502His)
NM_020738.4(KIDINS220):c.4511del (p.Gln1504fs)
NM_020738.4(KIDINS220):c.4539G>A (p.Gly1513=)
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter) rs1664085645
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
NM_020738.4(KIDINS220):c.4559C>A (p.Pro1520Gln)
NM_020738.4(KIDINS220):c.4570G>T (p.Asp1524Tyr)
NM_020738.4(KIDINS220):c.4593A>G (p.Ser1531=)
NM_020738.4(KIDINS220):c.459T>C (p.Val153=)
NM_020738.4(KIDINS220):c.4604C>T (p.Pro1535Leu)
NM_020738.4(KIDINS220):c.4626C>T (p.Asp1542=)
NM_020738.4(KIDINS220):c.4627A>G (p.Arg1543Gly)
NM_020738.4(KIDINS220):c.4636G>A (p.Glu1546Lys)
NM_020738.4(KIDINS220):c.463C>G (p.Leu155Val)
NM_020738.4(KIDINS220):c.4668A>G (p.Pro1556=)
NM_020738.4(KIDINS220):c.4672C>T (p.His1558Tyr) rs766678072
NM_020738.4(KIDINS220):c.4679C>A (p.Ala1560Asp)
NM_020738.4(KIDINS220):c.4686G>A (p.Pro1562=)
NM_020738.4(KIDINS220):c.4698C>G (p.Phe1566Leu)
NM_020738.4(KIDINS220):c.4698C>T (p.Phe1566=) rs556837190
NM_020738.4(KIDINS220):c.4699A>G (p.Ile1567Val)
NM_020738.4(KIDINS220):c.4700T>A (p.Ile1567Asn)
NM_020738.4(KIDINS220):c.4708A>G (p.Lys1570Glu)
NM_020738.4(KIDINS220):c.4722G>C (p.Ser1574=) rs536421685
NM_020738.4(KIDINS220):c.4728G>A (p.Ala1576=)
NM_020738.4(KIDINS220):c.4752G>A (p.Ser1584=)
NM_020738.4(KIDINS220):c.4759G>C (p.Gly1587Arg)
NM_020738.4(KIDINS220):c.4764G>A (p.Val1588=)
NM_020738.4(KIDINS220):c.4786A>G (p.Asn1596Asp)
NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser) rs2147943225
NM_020738.4(KIDINS220):c.4798C>A (p.His1600Asn)
NM_020738.4(KIDINS220):c.4805A>G (p.Glu1602Gly)
NM_020738.4(KIDINS220):c.4812G>A (p.Ala1604=)
NM_020738.4(KIDINS220):c.4813G>A (p.Asp1605Asn)
NM_020738.4(KIDINS220):c.481_482delinsTT (p.Ala161Phe)
NM_020738.4(KIDINS220):c.4821C>G (p.Ser1607=)
NM_020738.4(KIDINS220):c.4825C>T (p.Leu1609Phe)
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
NM_020738.4(KIDINS220):c.4840C>G (p.Leu1614Val)
NM_020738.4(KIDINS220):c.4864C>T (p.His1622Tyr)
NM_020738.4(KIDINS220):c.4867A>G (p.Ser1623Gly)
NM_020738.4(KIDINS220):c.4869C>T (p.Ser1623=)
NM_020738.4(KIDINS220):c.4879G>A (p.Gly1627Arg)
NM_020738.4(KIDINS220):c.4915A>G (p.Ile1639Val) rs376497503
NM_020738.4(KIDINS220):c.4915A>T (p.Ile1639Phe)
NM_020738.4(KIDINS220):c.4917T>A (p.Ile1639=)
NM_020738.4(KIDINS220):c.4924C>T (p.Arg1642Trp)
NM_020738.4(KIDINS220):c.4925G>A (p.Arg1642Gln)
NM_020738.4(KIDINS220):c.4949A>G (p.Lys1650Arg)
NM_020738.4(KIDINS220):c.4962C>T (p.Ser1654=)
NM_020738.4(KIDINS220):c.4963G>T (p.Glu1655Ter)
NM_020738.4(KIDINS220):c.5001G>T (p.Trp1667Cys)
NM_020738.4(KIDINS220):c.5005G>A (p.Ala1669Thr)
NM_020738.4(KIDINS220):c.5021A>G (p.Tyr1674Cys)
NM_020738.4(KIDINS220):c.5036C>G (p.Thr1679Ser)
NM_020738.4(KIDINS220):c.5036C>T (p.Thr1679Ile)
NM_020738.4(KIDINS220):c.504+14A>G
NM_020738.4(KIDINS220):c.504+3A>C
NM_020738.4(KIDINS220):c.5046C>T (p.Thr1682=)
NM_020738.4(KIDINS220):c.5047G>A (p.Val1683Met)
NM_020738.4(KIDINS220):c.5049G>A (p.Val1683=) rs1572399283
NM_020738.4(KIDINS220):c.5068G>A (p.Ala1690Thr)
NM_020738.4(KIDINS220):c.5070T>C (p.Ala1690=)
NM_020738.4(KIDINS220):c.5076C>G (p.Ala1692=)
NM_020738.4(KIDINS220):c.5076C>T (p.Ala1692=)
NM_020738.4(KIDINS220):c.5092A>G (p.Asn1698Asp)
NM_020738.4(KIDINS220):c.5096T>C (p.Phe1699Ser)
NM_020738.4(KIDINS220):c.5097C>T (p.Phe1699=)
NM_020738.4(KIDINS220):c.5106G>A (p.Met1702Ile)
NM_020738.4(KIDINS220):c.5117G>T (p.Arg1706Met)
NM_020738.4(KIDINS220):c.5123C>T (p.Thr1708Ile)
NM_020738.4(KIDINS220):c.5127T>C (p.Ser1709=)
NM_020738.4(KIDINS220):c.5166del (p.Thr1723fs) rs2147941071
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
NM_020738.4(KIDINS220):c.5191A>T (p.Ser1731Cys)
NM_020738.4(KIDINS220):c.5194A>G (p.Met1732Val)
NM_020738.4(KIDINS220):c.5197A>G (p.Thr1733Ala)
NM_020738.4(KIDINS220):c.5206C>T (p.Arg1736Ter)
NM_020738.4(KIDINS220):c.5207G>A (p.Arg1736Gln)
NM_020738.4(KIDINS220):c.5214A>G (p.Gln1738=)
NM_020738.4(KIDINS220):c.5219C>T (p.Ser1740Leu)
NM_020738.4(KIDINS220):c.5220A>G (p.Ser1740=)
NM_020738.4(KIDINS220):c.5227A>G (p.Thr1743Ala)
NM_020738.4(KIDINS220):c.5255T>G (p.Leu1752Arg)
NM_020738.4(KIDINS220):c.5258A>G (p.His1753Arg)
NM_020738.4(KIDINS220):c.5259T>C (p.His1753=)
NM_020738.4(KIDINS220):c.531T>A (p.Ala177=)
NM_020738.4(KIDINS220):c.536G>A (p.Arg179Gln)
NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val) rs1675445207
NM_020738.4(KIDINS220):c.592C>A (p.Gln198Lys)
NM_020738.4(KIDINS220):c.597A>G (p.Glu199=)
NM_020738.4(KIDINS220):c.603+13T>C
NM_020738.4(KIDINS220):c.603+4A>G
NM_020738.4(KIDINS220):c.604-17GTT[3]
NM_020738.4(KIDINS220):c.604-20_604-18dup
NM_020738.4(KIDINS220):c.60T>C (p.Ala20=)
NM_020738.4(KIDINS220):c.610A>G (p.Met204Val)
NM_020738.4(KIDINS220):c.61C>G (p.Leu21Val)
NM_020738.4(KIDINS220):c.641G>C (p.Gly214Ala)
NM_020738.4(KIDINS220):c.644A>G (p.Tyr215Cys)
NM_020738.4(KIDINS220):c.659A>G (p.Lys220Arg)
NM_020738.4(KIDINS220):c.666T>G (p.Ile222Met)
NM_020738.4(KIDINS220):c.678T>A (p.Asn226Lys)
NM_020738.4(KIDINS220):c.70C>G (p.Leu24Val)
NM_020738.4(KIDINS220):c.733A>G (p.Lys245Glu)
NM_020738.4(KIDINS220):c.747G>A (p.Thr249=)
NM_020738.4(KIDINS220):c.74T>C (p.Leu25Pro)
NM_020738.4(KIDINS220):c.762T>C (p.Asp254=)
NM_020738.4(KIDINS220):c.768C>T (p.Leu256=)
NM_020738.4(KIDINS220):c.769G>A (p.Asp257Asn)
NM_020738.4(KIDINS220):c.771C>T (p.Asp257=)
NM_020738.4(KIDINS220):c.779C>T (p.Thr260Ile)
NM_020738.4(KIDINS220):c.78A>G (p.Glu26=) rs2148436106
NM_020738.4(KIDINS220):c.793C>T (p.Pro265Ser)
NM_020738.4(KIDINS220):c.801+11T>A
NM_020738.4(KIDINS220):c.801+8A>G
NM_020738.4(KIDINS220):c.802-4T>A
NM_020738.4(KIDINS220):c.825C>T (p.Gly275=)
NM_020738.4(KIDINS220):c.826G>A (p.Ala276Thr)
NM_020738.4(KIDINS220):c.844G>C (p.Val282Leu)
NM_020738.4(KIDINS220):c.857G>A (p.Arg286Gln)
NM_020738.4(KIDINS220):c.878C>T (p.Ala293Val)
NM_020738.4(KIDINS220):c.882T>C (p.Asp294=)
NM_020738.4(KIDINS220):c.900+13A>G
NM_020738.4(KIDINS220):c.900+16G>A
NM_020738.4(KIDINS220):c.900+19C>T
NM_020738.4(KIDINS220):c.900+3A>G
NM_020738.4(KIDINS220):c.900+5G>T
NM_020738.4(KIDINS220):c.901-11dup rs558177292
NM_020738.4(KIDINS220):c.901-18T>G
NM_020738.4(KIDINS220):c.901-19G>T
NM_020738.4(KIDINS220):c.901-5_901-2del rs538592227
NM_020738.4(KIDINS220):c.90T>C (p.Asp30=)
NM_020738.4(KIDINS220):c.936A>G (p.Lys312=) rs747039408
NM_020738.4(KIDINS220):c.958G>A (p.Asp320Asn) rs1444685604
NM_020738.4(KIDINS220):c.990A>G (p.Ile330Met)
NM_020738.4(KIDINS220):c.999+18A>G
NM_020738.4(KIDINS220):c.999+6A>G

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