List of variants studied for multiple epiphyseal dysplasia by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 433

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)	rs3776070	0.19906
NM_000095.3(COMP):c.1755G>A (p.Thr585=)	rs34467947	0.04927
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)	rs34119578	0.01848
NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	rs115338183	0.01840
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	rs78676079	0.01642
NM_001844.5(COL2A1):c.1266+7G>A	rs41317915	0.01359
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	rs41317925	0.01027
NM_001853.4(COL9A3):c.520-6C>T	rs45476191	0.00844
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)	rs145704340	0.00654
NM_001853.4(COL9A3):c.309+11G>A	rs146033082	0.00541
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)	rs149814240	0.00533
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=)	rs34911725	0.00408
NM_001852.4(COL9A2):c.1323+18T>G	rs186166446	0.00363
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)	rs527804875	0.00307
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	rs35504014	0.00278
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)	rs139401633	0.00096
NM_001844.5(COL2A1):c.2095-4G>A	rs111570218	0.00089
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys)	rs553583384	0.00089
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)	rs114212275	0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	rs41263847	0.00073
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)	rs143848379	0.00061
NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys)	rs146626238	0.00057
NM_000112.4(SLC26A2):c.-26+2T>C	rs386833492	0.00055
NM_198525.3(KIF7):c.461G>A (p.Arg154Gln)	rs180758272	0.00053
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)	rs143250090	0.00046
NM_198525.3(KIF7):c.1443+5C>T	rs778312422	0.00043
NM_001844.5(COL2A1):c.870+11C>T	rs191695664	0.00036
NM_001851.6(COL9A1):c.876+2dup	rs672601329	0.00030
NM_001853.4(COL9A3):c.346-19C>T	rs199940406	0.00029
NM_198525.3(KIF7):c.2675G>A (p.Arg892His)	rs143866575	0.00029
NM_198525.3(KIF7):c.355A>G (p.Ile119Val)	rs761226001	0.00029
NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu)	rs369168569	0.00026
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)	rs145698301	0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	rs373264436	0.00025
NM_198525.3(KIF7):c.1270C>T (p.Arg424Cys)	rs550404869	0.00024
NM_198525.3(KIF7):c.3797G>A (p.Arg1266Gln)	rs144301755	0.00024
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	rs142598777	0.00022
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met)	rs201181440	0.00021
NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser)	rs764965490	0.00021
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	rs142770543	0.00019
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val)	rs142539130	0.00019
NM_198525.3(KIF7):c.1412A>C (p.Asp471Ala)	rs922192277	0.00019
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln)	rs149078926	0.00018
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu)	rs145207010	0.00016
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	rs775923357	0.00015
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)	rs756368261	0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	rs200214562	0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	rs104893919	0.00012
NM_198525.3(KIF7):c.2143A>G (p.Ile715Val)	rs774683334	0.00012
NM_198525.3(KIF7):c.2191+7C>T	rs371970440	0.00011
NM_198525.3(KIF7):c.2219A>G (p.Gln740Arg)	rs147679100	0.00011
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser)	rs117123311	0.00011
NM_198525.3(KIF7):c.2482G>A (p.Val828Met)	rs143915145	0.00011
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met)	rs757175418	0.00010
NM_198525.3(KIF7):c.3585G>C (p.Lys1195Asn)	rs200782729	0.00010
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)	rs376772481	0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala)	rs528002132	0.00009
NM_198525.3(KIF7):c.2548C>T (p.Arg850Trp)	rs200210231	0.00009
NM_198525.3(KIF7):c.3428A>G (p.Glu1143Gly)	rs755353975	0.00009
NM_198525.3(KIF7):c.72A>C (p.Pro24=)	rs773325406	0.00009
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)	rs184896618	0.00008
NM_198525.3(KIF7):c.3224C>T (p.Ser1075Leu)	rs149378390	0.00008
NM_001851.6(COL9A1):c.88+19A>C	rs188749185	0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	rs553968087	0.00007
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)	rs587776896	0.00006
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	rs150951022	0.00006
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)	rs199581593	0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)	rs565855414	0.00006
NM_001852.4(COL9A2):c.1871-8G>T	rs372902486	0.00006
NM_001853.4(COL9A3):c.1548+8G>A	rs376918493	0.00006
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser)	rs34990115	0.00006
NM_198525.3(KIF7):c.1708G>C (p.Gly570Arg)	rs569225496	0.00006
NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr)	rs769897141	0.00006
NM_198525.3(KIF7):c.1841G>A (p.Arg614Lys)	rs1031698510	0.00006
NM_198525.3(KIF7):c.1961G>A (p.Arg654His)	rs542994181	0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)	rs367734857	0.00006
NM_198525.3(KIF7):c.2674C>T (p.Arg892Cys)	rs146368430	0.00006
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)	rs752248403	0.00006
NM_198525.3(KIF7):c.3061C>T (p.Arg1021Cys)	rs144493884	0.00006
NM_198525.3(KIF7):c.3196C>T (p.Arg1066Cys)	rs77474187	0.00006
NM_198525.3(KIF7):c.3713A>G (p.Asn1238Ser)	rs371960047	0.00006
NM_000112.4(SLC26A2):c.700-1G>C	rs200963884	0.00005
NM_001844.5(COL2A1):c.312A>G (p.Gly104=)	rs139205058	0.00005
NM_198525.3(KIF7):c.1069T>G (p.Trp357Gly)	rs1449579286	0.00005
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr)	rs932033181	0.00005
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met)	rs372660203	0.00005
NM_198525.3(KIF7):c.2758G>C (p.Glu920Gln)	rs746577567	0.00005
NM_198525.3(KIF7):c.2816G>A (p.Arg939Gln)	rs771525697	0.00005
NM_198525.3(KIF7):c.322A>T (p.Ser108Cys)	rs754667399	0.00005
NM_001159773.2(CANT1):c.622G>A (p.Val208Met)	rs776735475	0.00004
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)	rs150181226	0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)	rs377546036	0.00004
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)	rs939449148	0.00004
NM_001853.4(COL9A3):c.1450G>A (p.Gly484Ser)	rs767106237	0.00004
NM_001853.4(COL9A3):c.1547C>T (p.Pro516Leu)	rs201337557	0.00004
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu)	rs768298010	0.00004
NM_198525.3(KIF7):c.1443+2T>C	rs751900799	0.00004
NM_198525.3(KIF7):c.1585G>C (p.Glu529Gln)	rs377625808	0.00004
NM_198525.3(KIF7):c.2071C>T (p.Arg691Cys)	rs536188566	0.00004
NM_198525.3(KIF7):c.2186G>A (p.Arg729His)	rs142420701	0.00004
NM_198525.3(KIF7):c.2529C>T (p.Arg843=)	rs199783943	0.00004
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp)	rs142786336	0.00004
NM_198525.3(KIF7):c.328+2T>G	rs781752990	0.00004
NM_198525.3(KIF7):c.3815C>T (p.Pro1272Leu)	rs765907353	0.00004
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)	rs775143472	0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)	rs104893918	0.00003
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile)	rs368583168	0.00003
NM_001853.4(COL9A3):c.387C>T (p.Ser129=)	rs529110098	0.00003
NM_198525.3(KIF7):c.1157A>T (p.His386Leu)	rs886051537	0.00003
NM_198525.3(KIF7):c.2165A>G (p.Glu722Gly)	rs758416079	0.00003
NM_198525.3(KIF7):c.2522G>A (p.Arg841Gln)	rs750616880	0.00003
NM_198525.3(KIF7):c.2735A>G (p.Lys912Arg)	rs764430327	0.00003
NM_198525.3(KIF7):c.2878C>T (p.Arg960Cys)	rs766652877	0.00003
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)	rs794727316	0.00003
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val)	rs781246762	0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu)	rs757218488	0.00002
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys)	rs778892188	0.00002
NM_001853.4(COL9A3):c.577-20G>A	rs928285792	0.00002
NM_198525.3(KIF7):c.2104C>T (p.Arg702Trp)	rs781032745	0.00002
NM_198525.3(KIF7):c.2476C>T (p.Arg826Trp)	rs139711238	0.00002
NM_198525.3(KIF7):c.3248A>C (p.Asn1083Thr)	rs746652178	0.00002
NM_198525.3(KIF7):c.3430C>T (p.Arg1144Trp)	rs571807299	0.00002
NM_198525.3(KIF7):c.3451C>T (p.Arg1151Cys)	rs886044617	0.00002
NM_198525.3(KIF7):c.3835C>T (p.Arg1279Cys)	rs749221779	0.00002
NM_198525.3(KIF7):c.3974G>A (p.Arg1325Gln)	rs73477443	0.00002
NM_198525.3(KIF7):c.716C>A (p.Ala239Asp)	rs1188936390	0.00002
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)	rs774648833	0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)	rs769319202	0.00001
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)	rs761853610	0.00001
NM_001159773.2(CANT1):c.836-9G>A	rs538543007	0.00001
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)	rs781554389	0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	rs371440147	0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)	rs1431778644	0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	rs570320774	0.00001
NM_001844.5(COL2A1):c.3111+5G>A	rs1429492734	0.00001
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)	rs121912891	0.00001
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)	rs748658390	0.00001
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val)	rs767229176	0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser)	rs578034223	0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)	rs571441243	0.00001
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala)	rs1202213496	0.00001
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr)	rs948698664	0.00001
NM_198525.3(KIF7):c.1019dup (p.Asn341fs)	rs1964065704	0.00001
NM_198525.3(KIF7):c.1158C>A (p.His386Gln)	rs1208805083	0.00001
NM_198525.3(KIF7):c.1285G>A (p.Glu429Lys)	rs946190172	0.00001
NM_198525.3(KIF7):c.1287G>T (p.Glu429Asp)	rs1297297468	0.00001
NM_198525.3(KIF7):c.1457C>T (p.Ala486Val)	rs1305987882	0.00001
NM_198525.3(KIF7):c.1711G>A (p.Ala571Thr)	rs140185951	0.00001
NM_198525.3(KIF7):c.2132G>A (p.Arg711Gln)	rs368873919	0.00001
NM_198525.3(KIF7):c.2227C>A (p.Gln743Lys)	rs145324453	0.00001
NM_198525.3(KIF7):c.2266C>T (p.Arg756Trp)	rs570853380	0.00001
NM_198525.3(KIF7):c.2283A>T (p.Glu761Asp)	rs758677022	0.00001
NM_198525.3(KIF7):c.2354A>T (p.Glu785Val)	rs759424882	0.00001
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr)	rs567836651	0.00001
NM_198525.3(KIF7):c.2896-18T>A	rs528968559	0.00001
NM_198525.3(KIF7):c.2896-9T>C	rs746943281	0.00001
NM_198525.3(KIF7):c.2935G>A (p.Glu979Lys)	rs558313041	0.00001
NM_198525.3(KIF7):c.3109G>A (p.Glu1037Lys)	rs779514045	0.00001
NM_198525.3(KIF7):c.3197G>A (p.Arg1066His)	rs763937653	0.00001
NM_198525.3(KIF7):c.3203G>A (p.Arg1068Gln)	rs767837351	0.00001
NM_198525.3(KIF7):c.3278C>T (p.Ser1093Phe)	rs762038154	0.00001
NM_198525.3(KIF7):c.3628A>G (p.Lys1210Glu)	rs751522626	0.00001
NM_198525.3(KIF7):c.3874G>A (p.Glu1292Lys)	rs1044478234	0.00001
NM_198525.3(KIF7):c.394G>A (p.Asp132Asn)	rs1410526224	0.00001
NM_198525.3(KIF7):c.4016G>A (p.Arg1339Gln)	rs747829509	0.00001
NM_198525.3(KIF7):c.43C>T (p.Pro15Ser)	rs1454209591	0.00001
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)	rs1235928535	0.00001
NM_198525.3(KIF7):c.785C>T (p.Thr262Met)	rs1057518271	0.00001
NM_198525.3(KIF7):c.869G>A (p.Gly290Glu)	rs531693490	0.00001
NM_198525.3(KIF7):c.962T>C (p.Val321Ala)	rs913347544	0.00001
NM_198525.3(KIF7):c.976G>A (p.Val326Ile)	rs1964066861	0.00001
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	rs1601054715
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	rs312262900
NM_000095.3(COMP):c.1848G>C (p.Gln616His)
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)	rs121908077
NM_000112.4(SLC26A2):c.121C>T (p.Gln41Ter)
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)
NM_000112.4(SLC26A2):c.1434del (p.Gln479fs)
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)	rs1057517511
NM_000112.4(SLC26A2):c.158G>A (p.Arg53Lys)
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs)	rs2113699101
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	rs1057517530
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)	rs1554095374
NM_000112.4(SLC26A2):c.1931del (p.Leu644fs)
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs)	rs772515802
NM_000112.4(SLC26A2):c.2050del (p.Ala684fs)
NM_000112.4(SLC26A2):c.2057_2061delinsAGAA (p.Cys686_Asn687delinsTer)
NM_000112.4(SLC26A2):c.2065_2068delinsTC (p.Thr689fs)
NM_000112.4(SLC26A2):c.272_276delinsATTT (p.Gly91fs)
NM_000112.4(SLC26A2):c.437_438del (p.Phe146fs)
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)	rs769859976
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	rs786204675
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)	rs386833505
NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)	rs386833507
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)	rs1057517514
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)	rs750882937
NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)
NM_001159773.2(CANT1):c.188del (p.Arg63fs)
NM_001159773.2(CANT1):c.267del (p.Asp89fs)
NM_001159773.2(CANT1):c.340G>A (p.Asp114Asn)
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter)	rs267606702
NM_001159773.2(CANT1):c.632-5_661dup
NM_001159773.2(CANT1):c.71dup (p.Leu25fs)	rs763733217
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)	rs1361897950
NM_001844.5(COL2A1):c.1365+3A>C
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	rs121912880
NM_001844.5(COL2A1):c.1529G>T (p.Gly510Val)
NM_001844.5(COL2A1):c.1693C>G (p.Arg565Gly)
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	rs121912893
NM_001844.5(COL2A1):c.1A>G (p.Met1Val)	rs2136652928
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	rs794727261
NM_001844.5(COL2A1):c.2734-18C>T	rs570573455
NM_001844.5(COL2A1):c.2858del (p.Pro953fs)	rs2136527926
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	rs121912874
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
NM_001844.5(COL2A1):c.4168A>C (p.Thr1390Pro)
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val)	rs113238468
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	rs1555168505
NM_001844.5(COL2A1):c.917_918delinsA (p.Gly306fs)
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)	rs770789859
NM_001851.6(COL9A1):c.2079+7dup	rs552585742
NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly)	rs200829297
NM_001851.6(COL9A1):c.2708C>A (p.Pro903Gln)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu)	rs767995228
NM_001852.4(COL9A2):c.1485del (p.Gly496fs)	rs761748258
NM_001852.4(COL9A2):c.1604-26CTCC[7]	rs3831927
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg)	rs150687987
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)	rs1201247953
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu)	rs1432126169
NM_001853.4(COL9A3):c.1928C>T (p.Pro643Leu)	rs2147235760
NM_001853.4(COL9A3):c.240_248del (p.78LPG[1])	rs758517077
NM_001853.4(COL9A3):c.792+19G>A	rs115466848
NM_002381.5(MATN3):c.34G>A (p.Gly12Arg)
NM_198525.3(KIF7):c.1009C>T (p.Leu337Phe)
NM_198525.3(KIF7):c.1026C>T (p.Tyr342=)
NM_198525.3(KIF7):c.1069T>C (p.Trp357Arg)
NM_198525.3(KIF7):c.1101G>C (p.Glu367Asp)
NM_198525.3(KIF7):c.1130G>A (p.Arg377Gln)
NM_198525.3(KIF7):c.1130G>C (p.Arg377Pro)
NM_198525.3(KIF7):c.1136G>T (p.Arg379Leu)
NM_198525.3(KIF7):c.1149dup (p.Ile384fs)	rs2142028862
NM_198525.3(KIF7):c.1168C>G (p.Arg390Gly)
NM_198525.3(KIF7):c.1208T>G (p.Met403Arg)
NM_198525.3(KIF7):c.1240G>A (p.Ala414Thr)
NM_198525.3(KIF7):c.1240G>C (p.Ala414Pro)
NM_198525.3(KIF7):c.1248del (p.Asp417fs)	rs1253153154
NM_198525.3(KIF7):c.1251C>G (p.Asp417Glu)
NM_198525.3(KIF7):c.1264C>G (p.Leu422Val)
NM_198525.3(KIF7):c.1295_1307dup (p.Lys439fs)
NM_198525.3(KIF7):c.1304C>T (p.Ala435Val)	rs976073468
NM_198525.3(KIF7):c.1307C>T (p.Ala436Val)
NM_198525.3(KIF7):c.1312C>T (p.Arg438Cys)
NM_198525.3(KIF7):c.1352G>A (p.Arg451His)
NM_198525.3(KIF7):c.1369G>A (p.Ala457Thr)
NM_198525.3(KIF7):c.1370C>G (p.Ala457Gly)
NM_198525.3(KIF7):c.1380C>T (p.Pro460=)
NM_198525.3(KIF7):c.139G>A (p.Val47Ile)
NM_198525.3(KIF7):c.1403C>T (p.Ser468Phe)
NM_198525.3(KIF7):c.1444-7C>G
NM_198525.3(KIF7):c.1459C>A (p.Gln487Lys)
NM_198525.3(KIF7):c.1490C>T (p.Ala497Val)
NM_198525.3(KIF7):c.1559A>G (p.Gln520Arg)
NM_198525.3(KIF7):c.1560+8G>T
NM_198525.3(KIF7):c.1560+9C>T
NM_198525.3(KIF7):c.1567C>T (p.Arg523Trp)
NM_198525.3(KIF7):c.1591_1592delinsGA (p.Met531Glu)
NM_198525.3(KIF7):c.1603C>T (p.Arg535Trp)
NM_198525.3(KIF7):c.1609C>A (p.Arg537=)
NM_198525.3(KIF7):c.1634G>T (p.Trp545Leu)
NM_198525.3(KIF7):c.1645C>T (p.Arg549Trp)
NM_198525.3(KIF7):c.1678G>A (p.Val560Met)
NM_198525.3(KIF7):c.1703del (p.Leu568fs)
NM_198525.3(KIF7):c.1717G>A (p.Ala573Thr)
NM_198525.3(KIF7):c.1730G>A (p.Gly577Asp)
NM_198525.3(KIF7):c.1788+17G>T
NM_198525.3(KIF7):c.1789-2A>G
NM_198525.3(KIF7):c.1789-9C>T
NM_198525.3(KIF7):c.1804A>T (p.Arg602Trp)
NM_198525.3(KIF7):c.1814G>T (p.Gly605Val)
NM_198525.3(KIF7):c.1820A>T (p.Glu607Val)
NM_198525.3(KIF7):c.1826T>C (p.Leu609Pro)
NM_198525.3(KIF7):c.1832A>T (p.Glu611Val)
NM_198525.3(KIF7):c.1879GAG[4] (p.Glu631del)	rs750610579
NM_198525.3(KIF7):c.1883A>G (p.Glu628Gly)
NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly)	rs137905815
NM_198525.3(KIF7):c.1952C>T (p.Ala651Val)
NM_198525.3(KIF7):c.1960C>T (p.Arg654Cys)
NM_198525.3(KIF7):c.196G>A (p.Gly66Arg)
NM_198525.3(KIF7):c.2011T>G (p.Leu671Val)
NM_198525.3(KIF7):c.2079C>A (p.Val693=)	rs113112856
NM_198525.3(KIF7):c.2132G>C (p.Arg711Pro)
NM_198525.3(KIF7):c.2137C>G (p.Leu713Val)
NM_198525.3(KIF7):c.2145C>G (p.Ile715Met)
NM_198525.3(KIF7):c.2225G>A (p.Ser742Asn)	rs1440715352
NM_198525.3(KIF7):c.2230C>T (p.Arg744Cys)
NM_198525.3(KIF7):c.2252_2263del (p.Glu751_Gln754del)
NM_198525.3(KIF7):c.2290A>G (p.Arg764Gly)
NM_198525.3(KIF7):c.2345G>A (p.Arg782Gln)	rs749948143
NM_198525.3(KIF7):c.2360G>A (p.Arg787His)
NM_198525.3(KIF7):c.2363G>A (p.Arg788Lys)
NM_198525.3(KIF7):c.2372C>G (p.Ala791Gly)
NM_198525.3(KIF7):c.2395-13G>A
NM_198525.3(KIF7):c.2426G>C (p.Arg809Pro)
NM_198525.3(KIF7):c.2456A>C (p.Lys819Thr)	rs374111371
NM_198525.3(KIF7):c.2459G>C (p.Arg820Pro)
NM_198525.3(KIF7):c.247T>C (p.Phe83Leu)	rs770614646
NM_198525.3(KIF7):c.247T>G (p.Phe83Val)	rs770614646
NM_198525.3(KIF7):c.2494C>T (p.Arg832Trp)	rs745638889
NM_198525.3(KIF7):c.2519G>A (p.Arg840Lys)
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs)	rs762662896
NM_198525.3(KIF7):c.2575C>T (p.Arg859Trp)
NM_198525.3(KIF7):c.259A>C (p.Asn87His)	rs147947221
NM_198525.3(KIF7):c.2610T>A (p.His870Gln)	rs771049459
NM_198525.3(KIF7):c.2618del (p.Gln873fs)
NM_198525.3(KIF7):c.2654C>A (p.Ala885Glu)	rs774073055
NM_198525.3(KIF7):c.2684G>C (p.Ser895Thr)
NM_198525.3(KIF7):c.2689G>C (p.Gly897Arg)	rs149548398
NM_198525.3(KIF7):c.2692T>C (p.Ser898Pro)
NM_198525.3(KIF7):c.269T>A (p.Val90Asp)
NM_198525.3(KIF7):c.2718+1G>A
NM_198525.3(KIF7):c.2734AAG[1] (p.Lys913del)	rs769890385
NM_198525.3(KIF7):c.2748C>G (p.Asp916Glu)	rs746321431
NM_198525.3(KIF7):c.2758G>T (p.Glu920Ter)
NM_198525.3(KIF7):c.2837A>G (p.Lys946Arg)
NM_198525.3(KIF7):c.2869G>T (p.Glu957Ter)
NM_198525.3(KIF7):c.2871G>C (p.Glu957Asp)
NM_198525.3(KIF7):c.287C>T (p.Thr96Met)
NM_198525.3(KIF7):c.2895+5_2895+6delinsTA
NM_198525.3(KIF7):c.2896-17G>A	rs935084157
NM_198525.3(KIF7):c.2914G>T (p.Val972Leu)	rs79839906
NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly)	rs202229910
NM_198525.3(KIF7):c.2956T>C (p.Ser986Pro)	rs2141998277
NM_198525.3(KIF7):c.2963A>G (p.Lys988Arg)
NM_198525.3(KIF7):c.2968G>T (p.Gly990Trp)
NM_198525.3(KIF7):c.29G>A (p.Gly10Glu)
NM_198525.3(KIF7):c.3032G>A (p.Arg1011His)
NM_198525.3(KIF7):c.3036G>C (p.Gln1012His)
NM_198525.3(KIF7):c.3040A>G (p.Lys1014Glu)
NM_198525.3(KIF7):c.3047C>T (p.Ser1016Leu)
NM_198525.3(KIF7):c.3057G>C (p.Lys1019Asn)
NM_198525.3(KIF7):c.3067G>A (p.Glu1023Lys)
NM_198525.3(KIF7):c.3069G>C (p.Glu1023Asp)
NM_198525.3(KIF7):c.310A>T (p.Met104Leu)
NM_198525.3(KIF7):c.3112-13C>G
NM_198525.3(KIF7):c.3118C>T (p.Arg1040Trp)
NM_198525.3(KIF7):c.3142G>A (p.Ala1048Thr)
NM_198525.3(KIF7):c.3145A>G (p.Ile1049Val)
NM_198525.3(KIF7):c.3148G>A (p.Glu1050Lys)
NM_198525.3(KIF7):c.3164C>T (p.Ala1055Val)
NM_198525.3(KIF7):c.3167T>C (p.Ile1056Thr)
NM_198525.3(KIF7):c.3175A>G (p.Lys1059Glu)
NM_198525.3(KIF7):c.3182A>C (p.Glu1061Ala)
NM_198525.3(KIF7):c.3195C>A (p.Cys1065Ter)
NM_198525.3(KIF7):c.3235C>T (p.Gln1079Ter)	rs1963646325
NM_198525.3(KIF7):c.3241G>A (p.Glu1081Lys)
NM_198525.3(KIF7):c.325G>A (p.Val109Met)
NM_198525.3(KIF7):c.329-26_329-13del	rs556031779
NM_198525.3(KIF7):c.3318+3_3318+5del
NM_198525.3(KIF7):c.3318+6C>T
NM_198525.3(KIF7):c.3319-13G>A	rs371154050
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)	rs142032413
NM_198525.3(KIF7):c.334C>A (p.Leu112Ile)
NM_198525.3(KIF7):c.3361T>G (p.Phe1121Val)
NM_198525.3(KIF7):c.3365C>G (p.Ser1122Trp)	rs202195179
NM_198525.3(KIF7):c.3366G>A (p.Ser1122=)
NM_198525.3(KIF7):c.3425T>G (p.Leu1142Arg)
NM_198525.3(KIF7):c.3430C>G (p.Arg1144Gly)
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu)	rs756521084
NM_198525.3(KIF7):c.3452G>A (p.Arg1151His)
NM_198525.3(KIF7):c.3480C>G (p.His1160Gln)
NM_198525.3(KIF7):c.350_353dup (p.Ile119fs)
NM_198525.3(KIF7):c.3518-12T>G
NM_198525.3(KIF7):c.3569T>A (p.Ile1190Asn)
NM_198525.3(KIF7):c.3572A>G (p.Gln1191Arg)
NM_198525.3(KIF7):c.3616G>A (p.Glu1206Lys)
NM_198525.3(KIF7):c.3624_3629dup (p.Gln1209_Lys1210dup)	rs752086211
NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser)	rs143316368
NM_198525.3(KIF7):c.3637G>C (p.Gly1213Arg)
NM_198525.3(KIF7):c.363G>T (p.Pro121=)
NM_198525.3(KIF7):c.3662G>C (p.Arg1221Thr)
NM_198525.3(KIF7):c.3664+1G>A
NM_198525.3(KIF7):c.3689C>T (p.Ser1230Leu)
NM_198525.3(KIF7):c.3700C>G (p.Gln1234Glu)
NM_198525.3(KIF7):c.3704C>T (p.Ala1235Val)
NM_198525.3(KIF7):c.3758C>A (p.Pro1253His)
NM_198525.3(KIF7):c.3769G>A (p.Gly1257Arg)
NM_198525.3(KIF7):c.3778C>T (p.Arg1260Cys)
NM_198525.3(KIF7):c.3778dup (p.Arg1260fs)	rs777426943
NM_198525.3(KIF7):c.3784del (p.Arg1262fs)
NM_198525.3(KIF7):c.37G>A (p.Glu13Lys)
NM_198525.3(KIF7):c.3802T>G (p.Leu1268Val)
NM_198525.3(KIF7):c.3806T>C (p.Val1269Ala)
NM_198525.3(KIF7):c.3838_3886del (p.Ser1280fs)
NM_198525.3(KIF7):c.3866C>A (p.Ser1289Tyr)
NM_198525.3(KIF7):c.386A>C (p.Lys129Thr)
NM_198525.3(KIF7):c.3882G>T (p.Arg1294Ser)
NM_198525.3(KIF7):c.3887G>A (p.Arg1296Gln)
NM_198525.3(KIF7):c.3907G>C (p.Val1303Leu)
NM_198525.3(KIF7):c.3910G>T (p.Gly1304Trp)
NM_198525.3(KIF7):c.3914G>C (p.Arg1305Pro)
NM_198525.3(KIF7):c.3986G>A (p.Arg1329Gln)	rs202214398
NM_198525.3(KIF7):c.4029_*5del (p.Leu1343_Ter1344delinsXaa)
NM_198525.3(KIF7):c.529+3G>A
NM_198525.3(KIF7):c.541G>A (p.Val181Met)
NM_198525.3(KIF7):c.541G>T (p.Val181Leu)
NM_198525.3(KIF7):c.613A>G (p.Thr205Ala)
NM_198525.3(KIF7):c.636C>G (p.His212Gln)
NM_198525.3(KIF7):c.655A>G (p.Thr219Ala)
NM_198525.3(KIF7):c.657G>A (p.Thr219=)
NM_198525.3(KIF7):c.667G>T (p.Val223Leu)
NM_198525.3(KIF7):c.690C>T (p.Arg230=)
NM_198525.3(KIF7):c.710G>A (p.Arg237His)	rs529571444
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu)	rs529571444
NM_198525.3(KIF7):c.715G>A (p.Ala239Thr)
NM_198525.3(KIF7):c.719_720insT (p.Gln242fs)
NM_198525.3(KIF7):c.747C>G (p.His249Gln)
NM_198525.3(KIF7):c.794C>A (p.Thr265Asn)
NM_198525.3(KIF7):c.852C>T (p.Asn284=)
NM_198525.3(KIF7):c.853G>A (p.Val285Ile)
NM_198525.3(KIF7):c.884G>A (p.Arg295Gln)
NM_198525.3(KIF7):c.911C>G (p.Ser304Cys)
NM_198525.3(KIF7):c.923+2T>G
NM_198525.3(KIF7):c.924-7_924-5delinsGCT
NM_198525.3(KIF7):c.946G>A (p.Gly316Arg)
NM_198525.3(KIF7):c.964A>G (p.Met322Val)

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