ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 542
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_004984.4(KIF5A):c.*317C>T rs886049701 0.00034
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=) rs147057295 0.00019
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_004984.4(KIF5A):c.*170T>A rs761486570 0.00013
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=) rs780381269 0.00006
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) rs371548640 0.00006
NM_004984.4(KIF5A):c.*449C>T rs1293182616 0.00005
NM_004984.4(KIF5A):c.396+13C>T rs377008480 0.00005
NM_004984.4(KIF5A):c.1195G>A (p.Val399Met) rs908820800 0.00004
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) rs370132723 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.292-14C>A rs778921032 0.00004
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys) rs962405110 0.00003
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp) rs377539747 0.00003
NM_004984.4(KIF5A):c.2971C>A (p.Gln991Lys) rs1057520171 0.00003
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.-45C>T rs760763129 0.00002
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.1631G>A (p.Arg544Gln) rs778864713 0.00002
NM_004984.4(KIF5A):c.1796A>G (p.Lys599Arg) rs1471037370 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp) rs753975521 0.00002
NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln) rs1360689553 0.00002
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp) rs779614400 0.00002
NM_004984.4(KIF5A):c.2135G>A (p.Arg712Gln) rs373969485 0.00002
NM_004984.4(KIF5A):c.2152C>T (p.Arg718Trp) rs769871370 0.00002
NM_004984.4(KIF5A):c.217+5T>C rs1321172885 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser) rs1271325672 0.00002
NM_004984.4(KIF5A):c.2541G>T (p.Leu847=) rs139023070 0.00002
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) rs201098122 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_004984.4(KIF5A):c.560G>C (p.Gly187Ala) rs147510678 0.00002
NM_004984.4(KIF5A):c.5C>T (p.Ala2Val) rs780433858 0.00002
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00002
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser) rs749301835 0.00001
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1111C>T (p.Arg371Cys) rs986406337 0.00001
NM_004984.4(KIF5A):c.1117+4A>G rs781028681 0.00001
NM_004984.4(KIF5A):c.1123A>G (p.Asn375Asp) rs767095969 0.00001
NM_004984.4(KIF5A):c.1152G>T (p.Gly384=) rs1206226779 0.00001
NM_004984.4(KIF5A):c.1177C>A (p.Leu393Ile) rs1247656371 0.00001
NM_004984.4(KIF5A):c.1223G>A (p.Arg408His) rs1203347152 0.00001
NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp) rs758500897 0.00001
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402 0.00001
NM_004984.4(KIF5A):c.1373C>T (p.Ser458Phe) rs1445439522 0.00001
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) rs1227040638 0.00001
NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys) rs769763596 0.00001
NM_004984.4(KIF5A):c.1569+6T>C rs1191410072 0.00001
NM_004984.4(KIF5A):c.1570-3C>T rs1365061259 0.00001
NM_004984.4(KIF5A):c.1570-5C>T rs752180551 0.00001
NM_004984.4(KIF5A):c.170C>T (p.Thr57Met) rs759785671 0.00001
NM_004984.4(KIF5A):c.1735G>A (p.Ala579Thr) rs760135493 0.00001
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.1842G>C (p.Glu614Asp) rs757985743 0.00001
NM_004984.4(KIF5A):c.1849C>T (p.Arg617Cys) rs202045039 0.00001
NM_004984.4(KIF5A):c.1850G>A (p.Arg617His) rs751295639 0.00001
NM_004984.4(KIF5A):c.1867G>A (p.Gly623Arg) rs1882386176 0.00001
NM_004984.4(KIF5A):c.1964G>A (p.Arg655Gln) rs772780431 0.00001
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) rs756646293 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.2188G>A (p.Glu730Lys) rs370904481 0.00001
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951 0.00001
NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys) rs749616160 0.00001
NM_004984.4(KIF5A):c.2300+7G>A rs763362184 0.00001
NM_004984.4(KIF5A):c.2342A>G (p.Lys781Arg) rs1461718357 0.00001
NM_004984.4(KIF5A):c.2365C>T (p.Arg789Trp) rs781124099 0.00001
NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser) rs1299838179 0.00001
NM_004984.4(KIF5A):c.2392C>T (p.Arg798Cys) rs372633156 0.00001
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys) rs766050696 0.00001
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) rs777903778 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2603C>T (p.Thr868Met) rs1295436882 0.00001
NM_004984.4(KIF5A):c.2630G>C (p.Gly877Ala) rs1882579532 0.00001
NM_004984.4(KIF5A):c.2681A>T (p.Gln894Leu) rs1192823802 0.00001
NM_004984.4(KIF5A):c.2710G>A (p.Val904Ile) rs141590802 0.00001
NM_004984.4(KIF5A):c.2713C>T (p.Arg905Cys) rs758637368 0.00001
NM_004984.4(KIF5A):c.2740C>T (p.His914Tyr) rs771687270 0.00001
NM_004984.4(KIF5A):c.2755+3G>A rs1416076720 0.00001
NM_004984.4(KIF5A):c.2767C>T (p.Arg923Trp) rs1231571339 0.00001
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) rs781143696 0.00001
NM_004984.4(KIF5A):c.291+5G>A rs775732465 0.00001
NM_004984.4(KIF5A):c.2921C>T (p.Ser974Phe) rs1882614569 0.00001
NM_004984.4(KIF5A):c.2939C>T (p.Ala980Val) rs759169064 0.00001
NM_004984.4(KIF5A):c.2992+3G>T rs1882618202 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) rs750415265 0.00001
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu) rs751496558 0.00001
NM_004984.4(KIF5A):c.3050A>G (p.Glu1017Gly) rs1485170378 0.00001
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) rs756348570 0.00001
NM_004984.4(KIF5A):c.3085A>G (p.Thr1029Ala) rs1276293459 0.00001
NM_004984.4(KIF5A):c.32A>C (p.Lys11Thr) rs748864821 0.00001
NM_004984.4(KIF5A):c.449C>G (p.Thr150Ser) rs1882017045 0.00001
NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser) rs770302674 0.00001
NM_004984.4(KIF5A):c.530C>T (p.Pro177Leu) rs1319232269 0.00001
NM_004984.4(KIF5A):c.659C>T (p.Thr220Met) rs772697257 0.00001
NM_004984.4(KIF5A):c.819+12T>G rs1264041425 0.00001
NM_004984.4(KIF5A):c.848A>G (p.Lys283Arg) rs1882169104 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_004984.4(KIF5A):c.968+12G>C rs536186088 0.00001
NC_000012.11:g.(?_57960889)_(57965192_?)dup
NM_004984.2(KIF5A):c.2993del rs1882639725
NM_004984.4(KIF5A):c.*14C>T rs192586811
NM_004984.4(KIF5A):c.*326G>C rs150199729
NM_004984.4(KIF5A):c.*326G>T rs150199729
NM_004984.4(KIF5A):c.*335T>G rs1882700550
NM_004984.4(KIF5A):c.*422GCAC[4] rs150797197
NM_004984.4(KIF5A):c.*435C>T rs886049704
NM_004984.4(KIF5A):c.*492A>T rs886049705
NM_004984.4(KIF5A):c.*86C>G rs1882692170
NM_004984.4(KIF5A):c.-1_15del (p.Met1fs)
NM_004984.4(KIF5A):c.103C>A (p.Gln35Lys) rs2140150213
NM_004984.4(KIF5A):c.1042_1044del (p.Lys348del) rs2140163232
NM_004984.4(KIF5A):c.1045_1047del (p.Glu349del)
NM_004984.4(KIF5A):c.1046A>G (p.Glu349Gly)
NM_004984.4(KIF5A):c.1056G>T (p.Lys352Asn) rs769712123
NM_004984.4(KIF5A):c.1067A>G (p.Gln356Arg)
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) rs886049700
NM_004984.4(KIF5A):c.1082C>A (p.Ala361Glu)
NM_004984.4(KIF5A):c.1082C>G (p.Ala361Gly)
NM_004984.4(KIF5A):c.1091A>G (p.Glu364Gly)
NM_004984.4(KIF5A):c.1097A>G (p.Glu366Gly) rs2140163300
NM_004984.4(KIF5A):c.1106G>A (p.Arg369Gln)
NM_004984.4(KIF5A):c.1112G>A (p.Arg371His)
NM_004984.4(KIF5A):c.1116T>C (p.Asn372=)
NM_004984.4(KIF5A):c.1116T>G (p.Asn372Lys) rs754551006
NM_004984.4(KIF5A):c.1124A>G (p.Asn375Ser)
NM_004984.4(KIF5A):c.1126G>A (p.Val376Met)
NM_004984.4(KIF5A):c.1142G>T (p.Arg381Leu) rs755855553
NM_004984.4(KIF5A):c.1148C>T (p.Ala383Val)
NM_004984.4(KIF5A):c.1151G>A (p.Gly384Glu)
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys) rs753854351
NM_004984.4(KIF5A):c.1156G>A (p.Glu386Lys)
NM_004984.4(KIF5A):c.1156G>C (p.Glu386Gln) rs1052752751
NM_004984.4(KIF5A):c.1160C>T (p.Ala387Val) rs2140163615
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp) rs1882197501
NM_004984.4(KIF5A):c.1171G>A (p.Ala391Thr)
NM_004984.4(KIF5A):c.1176G>C (p.Glu392Asp) rs75907338
NM_004984.4(KIF5A):c.1181G>A (p.Cys394Tyr)
NM_004984.4(KIF5A):c.1190C>A (p.Thr397Asn) rs2140163650
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1199A>G (p.Asn400Ser)
NM_004984.4(KIF5A):c.1208C>T (p.Ser403Leu)
NM_004984.4(KIF5A):c.1213A>G (p.Ile405Val) rs1313023330
NM_004984.4(KIF5A):c.1215C>A (p.Ile405=)
NM_004984.4(KIF5A):c.1216G>A (p.Val406Met)
NM_004984.4(KIF5A):c.121G>A (p.Val41Ile) rs1881531764
NM_004984.4(KIF5A):c.1222C>A (p.Arg408Ser) rs767181570
NM_004984.4(KIF5A):c.1225A>G (p.Ile409Val)
NM_004984.4(KIF5A):c.1228G>A (p.Ala410Thr)
NM_004984.4(KIF5A):c.1252G>A (p.Glu418Lys)
NM_004984.4(KIF5A):c.1255G>A (p.Glu419Lys)
NM_004984.4(KIF5A):c.1257G>T (p.Glu419Asp) rs781663145
NM_004984.4(KIF5A):c.1261A>C (p.Ile421Leu)
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) rs149569914
NM_004984.4(KIF5A):c.1274A>G (p.Tyr425Cys)
NM_004984.4(KIF5A):c.128G>C (p.Gly43Ala)
NM_004984.4(KIF5A):c.129+6T>A
NM_004984.4(KIF5A):c.1293+16C>T
NM_004984.4(KIF5A):c.1293+5G>A
NM_004984.4(KIF5A):c.1297G>A (p.Asp433Asn)
NM_004984.4(KIF5A):c.129G>A (p.Gly43=)
NM_004984.4(KIF5A):c.130-5236_130-4967del
NM_004984.4(KIF5A):c.1305C>G (p.Ile435Met)
NM_004984.4(KIF5A):c.1307A>C (p.Asn436Thr)
NM_004984.4(KIF5A):c.1312C>G (p.Gln438Glu) rs2140164723
NM_004984.4(KIF5A):c.1316G>C (p.Ser439Thr)
NM_004984.4(KIF5A):c.1341G>T (p.Gln447His)
NM_004984.4(KIF5A):c.1352A>C (p.Asp451Ala) rs2140164755
NM_004984.4(KIF5A):c.1357G>A (p.Glu453Lys)
NM_004984.4(KIF5A):c.1362+3A>C
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.136C>G (p.Pro46Ala)
NM_004984.4(KIF5A):c.1372T>G (p.Ser458Ala) rs886042524
NM_004984.4(KIF5A):c.1384G>C (p.Asp462His)
NM_004984.4(KIF5A):c.1397T>C (p.Val466Ala) rs2140165191
NM_004984.4(KIF5A):c.13A>G (p.Asn5Asp)
NM_004984.4(KIF5A):c.1409T>C (p.Leu470Pro)
NM_004984.4(KIF5A):c.1416C>G (p.His472Gln)
NM_004984.4(KIF5A):c.1422A>T (p.Gln474His) rs1373971092
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp) rs1882274569
NM_004984.4(KIF5A):c.1435G>A (p.Ala479Thr) rs2140165233
NM_004984.4(KIF5A):c.1450G>T (p.Val484Leu)
NM_004984.4(KIF5A):c.1452G>A (p.Val484=)
NM_004984.4(KIF5A):c.1468G>A (p.Ala490Thr)
NM_004984.4(KIF5A):c.1480C>T (p.Leu494=)
NM_004984.4(KIF5A):c.1486G>A (p.Val496Met) rs2140165263
NM_004984.4(KIF5A):c.151C>G (p.Arg51Gly) rs769763596
NM_004984.4(KIF5A):c.1527C>A (p.Ser509Arg)
NM_004984.4(KIF5A):c.1537C>G (p.Gln513Glu)
NM_004984.4(KIF5A):c.1540C>A (p.Leu514Ile)
NM_004984.4(KIF5A):c.1541T>A (p.Leu514His) rs2140165294
NM_004984.4(KIF5A):c.1550A>T (p.Asp517Val)
NM_004984.4(KIF5A):c.1562A>G (p.Gln521Arg)
NM_004984.4(KIF5A):c.1569+4A>G
NM_004984.4(KIF5A):c.1569+5G>A rs2140165311
NM_004984.4(KIF5A):c.1570-20A>G
NM_004984.4(KIF5A):c.1570-7T>C rs2140165527
NM_004984.4(KIF5A):c.157T>C (p.Phe53Leu)
NM_004984.4(KIF5A):c.1588G>C (p.Glu530Gln)
NM_004984.4(KIF5A):c.1589A>G (p.Glu530Gly)
NM_004984.4(KIF5A):c.158T>C (p.Phe53Ser) rs1555177348
NM_004984.4(KIF5A):c.1590del (p.Glu530fs) rs2140165538
NM_004984.4(KIF5A):c.1601A>G (p.Gln534Arg)
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) rs1055742325
NM_004984.4(KIF5A):c.1618A>G (p.Ser540Gly) rs1882291000
NM_004984.4(KIF5A):c.1637G>T (p.Arg546Leu)
NM_004984.4(KIF5A):c.163C>G (p.Pro55Ala)
NM_004984.4(KIF5A):c.1648G>A (p.Val550Met) rs2140165608
NM_004984.4(KIF5A):c.164C>G (p.Pro55Arg)
NM_004984.4(KIF5A):c.1656C>G (p.Asn552Lys) rs776685173
NM_004984.4(KIF5A):c.166A>C (p.Asn56His) rs1162282839
NM_004984.4(KIF5A):c.1671T>A (p.Asp557Glu) rs1594919820
NM_004984.4(KIF5A):c.1685G>A (p.Ser562Asn) rs2140165648
NM_004984.4(KIF5A):c.1705G>A (p.Glu569Lys)
NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met) rs1882294516
NM_004984.4(KIF5A):c.1716+10G>A
NM_004984.4(KIF5A):c.1717-10A>G
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.1727T>A (p.Ile576Asn) rs2140167372
NM_004984.4(KIF5A):c.1729A>G (p.Ser577Gly)
NM_004984.4(KIF5A):c.1741GAG[2] (p.Glu583del)
NM_004984.4(KIF5A):c.1741GAG[4] (p.Glu583dup) rs1882381684
NM_004984.4(KIF5A):c.1759G>A (p.Ala587Thr)
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val)
NM_004984.4(KIF5A):c.178G>C (p.Glu60Gln) rs1881973323
NM_004984.4(KIF5A):c.1793T>C (p.Val598Ala)
NM_004984.4(KIF5A):c.1796A>C (p.Lys599Thr)
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln) rs931757596
NM_004984.4(KIF5A):c.1816C>T (p.Arg606Trp)
NM_004984.4(KIF5A):c.1817G>A (p.Arg606Gln)
NM_004984.4(KIF5A):c.1829A>G (p.Asn610Ser) rs978303061
NM_004984.4(KIF5A):c.1829A>T (p.Asn610Ile) rs978303061
NM_004984.4(KIF5A):c.1849C>G (p.Arg617Gly)
NM_004984.4(KIF5A):c.184G>C (p.Val62Leu) rs2140158758
NM_004984.4(KIF5A):c.1890G>C (p.Gln630His)
NM_004984.4(KIF5A):c.1894C>T (p.Leu632Phe)
NM_004984.4(KIF5A):c.1897A>G (p.Ile633Val)
NM_004984.4(KIF5A):c.1905+5G>A
NM_004984.4(KIF5A):c.1906-15A>G
NM_004984.4(KIF5A):c.1909G>A (p.Glu637Lys)
NM_004984.4(KIF5A):c.1921C>T (p.Arg641Cys)
NM_004984.4(KIF5A):c.1955T>C (p.Leu652Pro)
NM_004984.4(KIF5A):c.1958A>G (p.Lys653Arg)
NM_004984.4(KIF5A):c.1982A>G (p.Tyr661Cys)
NM_004984.4(KIF5A):c.1994G>A (p.Ser665Asn)
NM_004984.4(KIF5A):c.199G>C (p.Ala67Pro)
NM_004984.4(KIF5A):c.2005G>A (p.Ala669Thr) rs142495781
NM_004984.4(KIF5A):c.2010G>C (p.Lys670Asn)
NM_004984.4(KIF5A):c.2039T>C (p.Val680Ala)
NM_004984.4(KIF5A):c.203T>C (p.Met68Thr)
NM_004984.4(KIF5A):c.203T>G (p.Met68Arg)
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
NM_004984.4(KIF5A):c.2083G>A (p.Val695Met)
NM_004984.4(KIF5A):c.2088+3G>A
NM_004984.4(KIF5A):c.2114G>T (p.Ser705Ile)
NM_004984.4(KIF5A):c.2124G>T (p.Glu708Asp) rs1224244947
NM_004984.4(KIF5A):c.2126C>T (p.Ala709Val) rs368671947
NM_004984.4(KIF5A):c.2139G>C (p.Gln713His) rs2140168258
NM_004984.4(KIF5A):c.2153G>A (p.Arg718Gln)
NM_004984.4(KIF5A):c.2155G>T (p.Asp719Tyr)
NM_004984.4(KIF5A):c.2158G>A (p.Glu720Lys)
NM_004984.4(KIF5A):c.2159A>T (p.Glu720Val) rs2140168286
NM_004984.4(KIF5A):c.215A>G (p.Lys72Arg)
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser) rs879254299
NM_004984.4(KIF5A):c.217+6A>C
NM_004984.4(KIF5A):c.2174A>C (p.Gln725Pro) rs879254315
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
NM_004984.4(KIF5A):c.2180C>A (p.Thr727Asn)
NM_004984.4(KIF5A):c.2180C>T (p.Thr727Ile)
NM_004984.4(KIF5A):c.2185G>C (p.Asp729His) rs1594922826
NM_004984.4(KIF5A):c.2198+4A>G
NM_004984.4(KIF5A):c.2198+6G>C
NM_004984.4(KIF5A):c.2216A>G (p.Gln739Arg) rs2140168633
NM_004984.4(KIF5A):c.2227G>A (p.Glu743Lys) rs1369177203
NM_004984.4(KIF5A):c.2240C>G (p.Ala747Gly) rs749023785
NM_004984.4(KIF5A):c.2261G>T (p.Ser754Ile) rs1882441483
NM_004984.4(KIF5A):c.2262C>G (p.Ser754Arg) rs143260492
NM_004984.4(KIF5A):c.2275A>C (p.Lys759Gln)
NM_004984.4(KIF5A):c.2278A>G (p.Ser760Gly)
NM_004984.4(KIF5A):c.22T>C (p.Cys8Arg)
NM_004984.4(KIF5A):c.2300C>G (p.Thr767Arg) rs765493045
NM_004984.4(KIF5A):c.2300C>T (p.Thr767Ile)
NM_004984.4(KIF5A):c.2301-3C>T rs1594923747
NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp) rs1060502525
NM_004984.4(KIF5A):c.2315G>A (p.Arg772Gln) rs537001094
NM_004984.4(KIF5A):c.2327C>T (p.Ser776Phe)
NM_004984.4(KIF5A):c.2333A>G (p.Gln778Arg) rs2140169276
NM_004984.4(KIF5A):c.233A>G (p.Tyr78Cys) rs2140158848
NM_004984.4(KIF5A):c.2358A>G (p.Thr786=)
NM_004984.4(KIF5A):c.2360T>C (p.Val787Ala) rs2140169303
NM_004984.4(KIF5A):c.2361+6T>C
NM_004984.4(KIF5A):c.2383C>T (p.His795Tyr)
NM_004984.4(KIF5A):c.2390T>C (p.Leu797Pro)
NM_004984.4(KIF5A):c.2393G>A (p.Arg798His) rs940071825
NM_004984.4(KIF5A):c.23G>T (p.Cys8Phe)
NM_004984.4(KIF5A):c.2404G>A (p.Val802Ile)
NM_004984.4(KIF5A):c.2433+10G>A rs149832619
NM_004984.4(KIF5A):c.2434A>G (p.Ser812Gly)
NM_004984.4(KIF5A):c.2436T>G (p.Ser812Arg)
NM_004984.4(KIF5A):c.244A>G (p.Ile82Val)
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) rs759472256
NM_004984.4(KIF5A):c.2480A>G (p.Lys827Arg) rs1882491979
NM_004984.4(KIF5A):c.2483AGA[1] (p.Lys829del)
NM_004984.4(KIF5A):c.2492C>T (p.Ser831Phe) rs193920755
NM_004984.4(KIF5A):c.2517G>T (p.Gln839His)
NM_004984.4(KIF5A):c.2538+5G>C rs2140169708
NM_004984.4(KIF5A):c.2539-14G>A
NM_004984.4(KIF5A):c.2539C>A (p.Leu847Met)
NM_004984.4(KIF5A):c.2540T>A (p.Leu847Gln) rs1594925728
NM_004984.4(KIF5A):c.2545C>T (p.Arg849Cys) rs2140171409
NM_004984.4(KIF5A):c.2563C>T (p.Arg855Cys) rs2140171424
NM_004984.4(KIF5A):c.2578A>C (p.Lys860Gln)
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) rs1882578572
NM_004984.4(KIF5A):c.259C>G (p.Gln87Glu)
NM_004984.4(KIF5A):c.260A>G (p.Gln87Arg)
NM_004984.4(KIF5A):c.2618A>C (p.Lys873Thr)
NM_004984.4(KIF5A):c.2621C>G (p.Ala874Gly)
NM_004984.4(KIF5A):c.2628G>A (p.Glu876=)
NM_004984.4(KIF5A):c.2629G>A (p.Gly877Ser)
NM_004984.4(KIF5A):c.2653G>A (p.Gly885Ser)
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) rs1017745641
NM_004984.4(KIF5A):c.2659A>T (p.Met887Leu)
NM_004984.4(KIF5A):c.2659_2674del (p.Met887fs) rs2140171473
NM_004984.4(KIF5A):c.2664G>T (p.Lys888Asn)
NM_004984.4(KIF5A):c.266C>A (p.Ser89Tyr) rs2140158856
NM_004984.4(KIF5A):c.2672G>T (p.Arg891Leu)
NM_004984.4(KIF5A):c.2674C>T (p.Arg892Trp) rs267603612
NM_004984.4(KIF5A):c.2695C>A (p.Arg899Ser)
NM_004984.4(KIF5A):c.2695C>T (p.Arg899Cys)
NM_004984.4(KIF5A):c.2696G>A (p.Arg899His)
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) rs1060502524
NM_004984.4(KIF5A):c.2717A>G (p.Tyr906Cys)
NM_004984.4(KIF5A):c.2719A>G (p.Lys907Glu)
NM_004984.4(KIF5A):c.2722A>C (p.Ser908Arg) rs2140171539
NM_004984.4(KIF5A):c.2723G>C (p.Ser908Thr) rs748632605
NM_004984.4(KIF5A):c.2726C>T (p.Ser909Leu) rs267603613
NM_004984.4(KIF5A):c.272G>A (p.Gly91Glu)
NM_004984.4(KIF5A):c.2732A>C (p.Lys911Thr)
NM_004984.4(KIF5A):c.2732A>G (p.Lys911Arg) rs199953180
NM_004984.4(KIF5A):c.2735G>C (p.Arg912Pro)
NM_004984.4(KIF5A):c.2738G>T (p.Gly913Val)
NM_004984.4(KIF5A):c.2741A>G (p.His914Arg) rs1882585121
NM_004984.4(KIF5A):c.2755+3G>C rs1416076720
NM_004984.4(KIF5A):c.2755+4A>C
NM_004984.4(KIF5A):c.275A>C (p.Lys92Thr) rs2140158867
NM_004984.4(KIF5A):c.2764G>A (p.Val922Ile) rs763041798
NM_004984.4(KIF5A):c.2771C>T (p.Pro924Leu)
NM_004984.4(KIF5A):c.2778C>A (p.His926Gln)
NM_004984.4(KIF5A):c.2788T>C (p.Ser930Pro)
NM_004984.4(KIF5A):c.2800A>G (p.Asn934Asp)
NM_004984.4(KIF5A):c.2804C>T (p.Pro935Leu) rs1272664645
NM_004984.4(KIF5A):c.2807A>G (p.Tyr936Cys)
NM_004984.4(KIF5A):c.280C>T (p.His94Tyr)
NM_004984.4(KIF5A):c.2810G>A (p.Gly937Asp)
NM_004984.4(KIF5A):c.2813C>T (p.Thr938Ile)
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.2826del (p.Glu942fs) rs1594926154
NM_004984.4(KIF5A):c.2833A>G (p.Ser945Gly)
NM_004984.4(KIF5A):c.2837A>G (p.Tyr946Cys)
NM_004984.4(KIF5A):c.2840C>G (p.Thr947Ser)
NM_004984.4(KIF5A):c.2843A>G (p.Asn948Ser)
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe) rs1882602063
NM_004984.4(KIF5A):c.28A>G (p.Ile10Val) rs2140150109
NM_004984.4(KIF5A):c.2902G>C (p.Asp968His) rs764332673
NM_004984.4(KIF5A):c.2902_2903delinsTT (p.Asp968Phe)
NM_004984.4(KIF5A):c.2909+4A>G rs2140171881
NM_004984.4(KIF5A):c.2909A>G (p.Tyr970Cys) rs1484472471
NM_004984.4(KIF5A):c.291+6G>C
NM_004984.4(KIF5A):c.2910-3C>G
NM_004984.4(KIF5A):c.2910-4_2910-3delinsTT rs2140172085
NM_004984.4(KIF5A):c.2922C>T (p.Ser974=)
NM_004984.4(KIF5A):c.2923T>G (p.Cys975Gly)
NM_004984.4(KIF5A):c.2930G>A (p.Ser977Asn)
NM_004984.4(KIF5A):c.2934T>G (p.Ser978Arg)
NM_004984.4(KIF5A):c.2936G>A (p.Gly979Glu)
NM_004984.4(KIF5A):c.2936G>C (p.Gly979Ala) rs1156869738
NM_004984.4(KIF5A):c.2945C>T (p.Ser982Phe) rs1211468940
NM_004984.4(KIF5A):c.2950G>A (p.Gly984Ser)
NM_004984.4(KIF5A):c.2953G>T (p.Gly985Cys) rs371548640
NM_004984.4(KIF5A):c.2956C>A (p.Pro986Thr)
NM_004984.4(KIF5A):c.2956C>T (p.Pro986Ser) rs2140172158
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
NM_004984.4(KIF5A):c.297G>T (p.Lys99Asn)
NM_004984.4(KIF5A):c.2993-16A>G rs1172104617
NM_004984.4(KIF5A):c.2993-6C>A rs1057522322
NM_004984.4(KIF5A):c.2994_2996del (p.Asn999del)
NM_004984.4(KIF5A):c.2996del (p.Asn999fs) rs2140172678
NM_004984.4(KIF5A):c.3002C>T (p.Thr1001Ile) rs2140172682
NM_004984.4(KIF5A):c.3002del (p.Thr1001fs)
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly) rs1882640177
NM_004984.4(KIF5A):c.3017A>G (p.Asn1006Ser) rs2140172688
NM_004984.4(KIF5A):c.3020+3A>G
NM_004984.4(KIF5A):c.3020G>T (p.Arg1007Met)
NM_004984.4(KIF5A):c.3027C>G (p.Asp1009Glu)
NM_004984.4(KIF5A):c.3031C>A (p.Pro1011Thr)
NM_004984.4(KIF5A):c.3036T>G (p.Cys1012Trp)
NM_004984.4(KIF5A):c.3041A>G (p.Tyr1014Cys)
NM_004984.4(KIF5A):c.304G>A (p.Asp102Asn)
NM_004984.4(KIF5A):c.3055C>G (p.Gln1019Glu) rs2140173025
NM_004984.4(KIF5A):c.3070C>T (p.Pro1024Ser)
NM_004984.4(KIF5A):c.3074T>C (p.Leu1025Pro)
NM_004984.4(KIF5A):c.3082G>A (p.Glu1028Lys) rs1882658654
NM_004984.4(KIF5A):c.3086C>T (p.Thr1029Ile)
NM_004984.4(KIF5A):c.3089C>A (p.Ala1030Glu) rs1206507768
NM_004984.4(KIF5A):c.3091G>C (p.Ala1031Pro) rs749631031
NM_004984.4(KIF5A):c.327T>G (p.Ile109Met) rs777103564
NM_004984.4(KIF5A):c.334A>G (p.Ile112Val)
NM_004984.4(KIF5A):c.340_357dup (p.Arg114_His119dup) rs2140159152
NM_004984.4(KIF5A):c.343G>A (p.Asp115Asn)
NM_004984.4(KIF5A):c.37C>G (p.Leu13Val)
NM_004984.4(KIF5A):c.382G>A (p.Glu128Lys) rs2140159178
NM_004984.4(KIF5A):c.396+5C>T
NM_004984.4(KIF5A):c.397-9C>A rs777193528
NM_004984.4(KIF5A):c.3G>A (p.Met1Ile)
NM_004984.4(KIF5A):c.414T>G (p.Ile138Met)
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys) rs2140159368
NM_004984.4(KIF5A):c.41G>A (p.Cys14Tyr)
NM_004984.4(KIF5A):c.427A>C (p.Ile143Leu)
NM_004984.4(KIF5A):c.428T>C (p.Ile143Thr) rs2140159373
NM_004984.4(KIF5A):c.431G>A (p.Arg144His)
NM_004984.4(KIF5A):c.433G>C (p.Asp145His) rs1060502522
NM_004984.4(KIF5A):c.466G>A (p.Val156Met)
NM_004984.4(KIF5A):c.472G>A (p.Glu158Lys)
NM_004984.4(KIF5A):c.474G>T (p.Glu158Asp)
NM_004984.4(KIF5A):c.475G>T (p.Asp159Tyr)
NM_004984.4(KIF5A):c.485G>A (p.Arg162Gln)
NM_004984.4(KIF5A):c.49C>T (p.Arg17Trp) rs2140150123
NM_004984.4(KIF5A):c.4_5delinsAA (p.Ala2Lys) rs2140150082
NM_004984.4(KIF5A):c.500A>C (p.Lys167Thr) rs2140159698
NM_004984.4(KIF5A):c.501+6A>C rs2140159703
NM_004984.4(KIF5A):c.502-15A>T rs1882086911
NM_004984.4(KIF5A):c.502-1G>C rs2140161193
NM_004984.4(KIF5A):c.502-9C>A rs755065220
NM_004984.4(KIF5A):c.502G>A (p.Gly168Ser) rs2140161194
NM_004984.4(KIF5A):c.503G>A (p.Gly168Asp)
NM_004984.4(KIF5A):c.506G>A (p.Cys169Tyr)
NM_004984.4(KIF5A):c.514C>T (p.Arg172Cys) rs1159429693
NM_004984.4(KIF5A):c.515G>A (p.Arg172His) rs1882088063
NM_004984.4(KIF5A):c.515G>C (p.Arg172Pro) rs1882088063
NM_004984.4(KIF5A):c.526A>G (p.Ser176Gly)
NM_004984.4(KIF5A):c.530C>G (p.Pro177Arg) rs1319232269
NM_004984.4(KIF5A):c.543G>A (p.Leu181=) rs2140161229
NM_004984.4(KIF5A):c.544G>T (p.Asp182Tyr)
NM_004984.4(KIF5A):c.547G>T (p.Val183Leu) rs2140161239
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) rs1882089233
NM_004984.4(KIF5A):c.565T>G (p.Ser189Ala) rs2140161267
NM_004984.4(KIF5A):c.571C>T (p.Arg191Cys)
NM_004984.4(KIF5A):c.572G>A (p.Arg191His) rs1488871976
NM_004984.4(KIF5A):c.574C>T (p.His192Tyr) rs1565697656
NM_004984.4(KIF5A):c.575A>C (p.His192Pro)
NM_004984.4(KIF5A):c.577G>A (p.Val193Met)
NM_004984.4(KIF5A):c.580G>A (p.Ala194Thr)
NM_004984.4(KIF5A):c.583G>A (p.Val195Ile)
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala) rs1565697675
NM_004984.4(KIF5A):c.587C>T (p.Thr196Ile) rs2140161296
NM_004984.4(KIF5A):c.589+9G>C
NM_004984.4(KIF5A):c.590-3C>T rs1882102799
NM_004984.4(KIF5A):c.593T>C (p.Met198Thr)
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys) rs11172251
NM_004984.4(KIF5A):c.598G>A (p.Glu200Lys) rs879254292
NM_004984.4(KIF5A):c.605G>C (p.Ser202Thr) rs1057519195
NM_004984.4(KIF5A):c.621C>A (p.Ser207Arg)
NM_004984.4(KIF5A):c.627C>G (p.Phe209Leu)
NM_004984.4(KIF5A):c.642_643delinsTA (p.Lys214_Gln215delinsAsnLys) rs2140161594
NM_004984.4(KIF5A):c.646_648del (p.Glu216del)
NM_004984.4(KIF5A):c.65C>T (p.Ala22Val) rs745558435
NM_004984.4(KIF5A):c.673A>T (p.Ser225Cys) rs911601615
NM_004984.4(KIF5A):c.691G>T (p.Val231Leu) rs2140161619
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro) rs1594915468
NM_004984.4(KIF5A):c.705G>T (p.Gly235=)
NM_004984.4(KIF5A):c.714+6G>C rs1882106517
NM_004984.4(KIF5A):c.715-9C>A rs1882156694
NM_004984.4(KIF5A):c.719G>T (p.Ser240Ile) rs2140162534
NM_004984.4(KIF5A):c.722A>G (p.Lys241Arg) rs2140162538
NM_004984.4(KIF5A):c.730G>C (p.Ala244Pro) rs1594916621
NM_004984.4(KIF5A):c.730_731delinsAA (p.Ala244Lys) rs2140162546
NM_004984.4(KIF5A):c.73C>G (p.Leu25Val)
NM_004984.4(KIF5A):c.742G>A (p.Val248Met)
NM_004984.4(KIF5A):c.742G>T (p.Val248Leu)
NM_004984.4(KIF5A):c.754G>C (p.Ala252Pro)
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val) rs2140162576
NM_004984.4(KIF5A):c.764T>C (p.Ile255Thr) rs2140162579
NM_004984.4(KIF5A):c.765CAA[1] (p.Asn256del) rs1565698514
NM_004984.4(KIF5A):c.76C>T (p.Arg26Trp)
NM_004984.4(KIF5A):c.772T>C (p.Ser258Pro) rs1882158696
NM_004984.4(KIF5A):c.782C>T (p.Ala261Val) rs2140162600
NM_004984.4(KIF5A):c.785T>C (p.Leu262Pro) rs1594916694
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp) rs2140162605
NM_004984.4(KIF5A):c.79G>A (p.Gly27Arg)
NM_004984.4(KIF5A):c.802G>T (p.Ala268Ser) rs139015012
NM_004984.4(KIF5A):c.808G>T (p.Ala270Ser) rs2140162633
NM_004984.4(KIF5A):c.809C>G (p.Ala270Gly)
NM_004984.4(KIF5A):c.813G>A (p.Glu271=) rs772172027
NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser) rs1882160307
NM_004984.4(KIF5A):c.820-3C>T
NM_004984.4(KIF5A):c.824G>A (p.Ser275Asn) rs2140162832
NM_004984.4(KIF5A):c.826T>C (p.Tyr276His) rs2140162837
NM_004984.4(KIF5A):c.832C>T (p.Pro278Ser) rs1882168147
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr) rs1224640834
NM_004984.4(KIF5A):c.862C>T (p.Leu288Phe) rs2140162896
NM_004984.4(KIF5A):c.865C>T (p.Gln289Ter)
NM_004984.4(KIF5A):c.86A>T (p.Lys29Met) rs2140150198
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe) rs761812789
NM_004984.4(KIF5A):c.877G>A (p.Gly293Arg)
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp) rs1416085161
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) rs1404057685
NM_004984.4(KIF5A):c.890G>T (p.Arg297Leu)
NM_004984.4(KIF5A):c.892A>G (p.Thr298Ala)
NM_004984.4(KIF5A):c.893C>T (p.Thr298Met) rs1303126235
NM_004984.4(KIF5A):c.899T>A (p.Met300Lys) rs1290797018
NM_004984.4(KIF5A):c.911G>A (p.Cys304Tyr) rs2140162947
NM_004984.4(KIF5A):c.922A>G (p.Ser308Gly)
NM_004984.4(KIF5A):c.92T>C (p.Ile31Thr)
NM_004984.4(KIF5A):c.933T>A (p.Asp311Glu)
NM_004984.4(KIF5A):c.934G>T (p.Ala312Ser)
NM_004984.4(KIF5A):c.935C>T (p.Ala312Val) rs2140162971
NM_004984.4(KIF5A):c.941C>A (p.Thr314Asn)
NM_004984.4(KIF5A):c.959T>G (p.Phe320Cys) rs2140162988
NM_004984.4(KIF5A):c.965A>G (p.Gln322Arg)
NM_004984.4(KIF5A):c.967C>A (p.Arg323=)
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000
NM_004984.4(KIF5A):c.970G>A (p.Ala324Thr) rs1882179319
NM_004984.4(KIF5A):c.977C>G (p.Thr326Ser)
NM_004984.4(KIF5A):c.97A>G (p.Ile33Val)
NM_004984.4(KIF5A):c.997G>A (p.Val333Ile)

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