ClinVar Miner

List of variants in gene KIF5A studied for Spastic paraplegia

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Gene type:
ClinVar version:
Total variants: 999
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.36+5C>T rs775249 0.25100
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.2023+18C>T rs192960012 0.00832
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_004984.4(KIF5A):c.446-18T>C rs188999300 0.00237
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_004984.4(KIF5A):c.2433+19G>A rs114929380 0.00170
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
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.2403C>T (p.Phe801=) rs149934878 0.00054
NM_004984.4(KIF5A):c.1656C>T (p.Asn552=) rs776685173 0.00051
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_004984.4(KIF5A):c.1236G>A (p.Glu412=) rs143591739 0.00028
NM_004984.4(KIF5A):c.60C>T (p.Asn20=) rs200876187 0.00021
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=) rs114935472 0.00020
NM_004984.4(KIF5A):c.1294-10C>A rs530832211 0.00019
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=) rs147057295 0.00019
NM_004984.4(KIF5A):c.820-10C>T rs374848194 0.00017
NM_004984.4(KIF5A):c.129+9C>T rs372131378 0.00016
NM_004984.4(KIF5A):c.2024-7C>T rs375960933 0.00016
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_004984.4(KIF5A):c.292-5G>A rs201917057 0.00016
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) rs112982686 0.00014
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_004984.4(KIF5A):c.261G>A (p.Gln87=) rs369673537 0.00013
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_004984.4(KIF5A):c.2361+7G>A rs371567825 0.00011
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=) rs148434838 0.00011
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.2023+14A>G rs750746685 0.00009
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=) rs759750438 0.00009
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=) rs138475832 0.00008
NM_004984.4(KIF5A):c.1740C>T (p.Ile580=) rs149622711 0.00008
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_004984.4(KIF5A):c.3024T>C (p.Ser1008=) rs766259270 0.00008
NM_004984.4(KIF5A):c.801C>T (p.Ser267=) rs368628303 0.00008
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=) rs377649745 0.00007
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=) rs143260492 0.00007
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=) rs202074843 0.00007
NM_004984.4(KIF5A):c.820-9C>A rs185306438 0.00007
NM_004984.4(KIF5A):c.1090G>A (p.Glu364Lys) rs371335708 0.00006
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=) rs780381269 0.00006
NM_004984.4(KIF5A):c.2472C>T (p.His824=) rs201743611 0.00006
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) rs371548640 0.00006
NM_004984.4(KIF5A):c.715-20A>G rs201888198 0.00006
NM_004984.4(KIF5A):c.894G>A (p.Thr298=) rs763135764 0.00006
NM_004984.4(KIF5A):c.1368G>A (p.Leu456=) rs769470445 0.00005
NM_004984.4(KIF5A):c.1947C>T (p.Ser649=) rs772609896 0.00005
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln) rs554894381 0.00005
NM_004984.4(KIF5A):c.396+13C>T rs377008480 0.00005
NM_004984.4(KIF5A):c.1083G>A (p.Ala361=) rs528282741 0.00004
NM_004984.4(KIF5A):c.1142G>A (p.Arg381His) rs755855553 0.00004
NM_004984.4(KIF5A):c.1195G>A (p.Val399Met) rs908820800 0.00004
NM_004984.4(KIF5A):c.1230G>A (p.Ala410=) rs753565345 0.00004
NM_004984.4(KIF5A):c.1281G>A (p.Gln427=) rs771610789 0.00004
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) rs370132723 0.00004
NM_004984.4(KIF5A):c.1437C>T (p.Ala479=) rs369229819 0.00004
NM_004984.4(KIF5A):c.2023+7C>T rs757331201 0.00004
NM_004984.4(KIF5A):c.2433+14T>C rs376614388 0.00004
NM_004984.4(KIF5A):c.2781C>T (p.Tyr927=) rs767928175 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.381T>A (p.Leu127=) rs140832607 0.00004
NM_004984.4(KIF5A):c.483C>T (p.Asn161=) rs371542028 0.00004
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) rs140144799 0.00004
NM_004984.4(KIF5A):c.660G>A (p.Thr220=) rs762824969 0.00004
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) rs758700375 0.00003
NM_004984.4(KIF5A):c.1233C>T (p.Pro411=) rs757235645 0.00003
NM_004984.4(KIF5A):c.1251C>T (p.Tyr417=) rs780256557 0.00003
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys) rs962405110 0.00003
NM_004984.4(KIF5A):c.159C>T (p.Phe53=) rs536777412 0.00003
NM_004984.4(KIF5A):c.1620T>C (p.Ser540=) rs1307744841 0.00003
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) rs144382702 0.00003
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp) rs377539747 0.00003
NM_004984.4(KIF5A):c.2248G>A (p.Glu750Lys) rs1218452123 0.00003
NM_004984.4(KIF5A):c.2289G>A (p.Leu763=) rs377232772 0.00003
NM_004984.4(KIF5A):c.2782C>T (p.Pro928Ser) rs1163611256 0.00003
NM_004984.4(KIF5A):c.292-6C>T rs369913032 0.00003
NM_004984.4(KIF5A):c.2926A>G (p.Thr976Ala) rs146406013 0.00003
NM_004984.4(KIF5A):c.2992+18G>T rs745773241 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.846C>T (p.Ser282=) rs149888065 0.00003
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004984.4(KIF5A):c.1164C>A (p.Ala388=) rs745882021 0.00002
NM_004984.4(KIF5A):c.1200T>C (p.Asn400=) rs748756540 0.00002
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.1227C>T (p.Ile409=) rs775172912 0.00002
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=) rs760382029 0.00002
NM_004984.4(KIF5A):c.1293+15G>A rs200594693 0.00002
NM_004984.4(KIF5A):c.1329G>A (p.Glu443=) rs1432671074 0.00002
NM_004984.4(KIF5A):c.1631G>A (p.Arg544Gln) rs778864713 0.00002
NM_004984.4(KIF5A):c.1651C>G (p.Leu551Val) rs147493358 0.00002
NM_004984.4(KIF5A):c.1796A>G (p.Lys599Arg) rs1471037370 0.00002
NM_004984.4(KIF5A):c.1869G>A (p.Gly623=) rs781063689 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.1995C>T (p.Ser665=) rs368783789 0.00002
NM_004984.4(KIF5A):c.1996G>A (p.Asp666Asn) rs1398974670 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.2198+19G>A rs932182752 0.00002
NM_004984.4(KIF5A):c.2217G>C (p.Gln739His) rs755813386 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.2310C>T (p.Tyr770=) rs919085412 0.00002
NM_004984.4(KIF5A):c.2433+16G>C rs770467123 0.00002
NM_004984.4(KIF5A):c.2538+8T>G rs377005699 0.00002
NM_004984.4(KIF5A):c.2553T>C (p.Asn851=) rs370062689 0.00002
NM_004984.4(KIF5A):c.2557G>A (p.Asp853Asn) rs780457980 0.00002
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=) rs1007236664 0.00002
NM_004984.4(KIF5A):c.2727G>A (p.Ser909=) rs756801243 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.2993-12T>C rs542701424 0.00002
NM_004984.4(KIF5A):c.510T>G (p.Thr170=) rs369289917 0.00002
NM_004984.4(KIF5A):c.560G>C (p.Gly187Ala) rs147510678 0.00002
NM_004984.4(KIF5A):c.567A>G (p.Ser189=) rs761592339 0.00002
NM_004984.4(KIF5A):c.5C>T (p.Ala2Val) rs780433858 0.00002
NM_004984.4(KIF5A):c.876C>T (p.Leu292=) rs560367645 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.1077G>A (p.Thr359=) rs552427920 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+13T>C rs1882186079 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.1197G>A (p.Val399=) rs1297872839 0.00001
NM_004984.4(KIF5A):c.1218G>C (p.Val406=) rs758977709 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.1241G>A (p.Arg414Gln) rs1170006745 0.00001
NM_004984.4(KIF5A):c.1268G>A (p.Arg423His) rs778095192 0.00001
NM_004984.4(KIF5A):c.129+10G>A rs1881532622 0.00001
NM_004984.4(KIF5A):c.129+20G>A rs763226331 0.00001
NM_004984.4(KIF5A):c.1293+8C>T rs776493530 0.00001
NM_004984.4(KIF5A):c.1294-7C>T rs200535153 0.00001
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402 0.00001
NM_004984.4(KIF5A):c.1362+19G>A rs1420700116 0.00001
NM_004984.4(KIF5A):c.1373C>T (p.Ser458Phe) rs1445439522 0.00001
NM_004984.4(KIF5A):c.1386C>T (p.Asp462=) rs1269741883 0.00001
NM_004984.4(KIF5A):c.1403G>A (p.Arg468Gln) rs774379377 0.00001
NM_004984.4(KIF5A):c.1407G>T (p.Glu469Asp) rs376249839 0.00001
NM_004984.4(KIF5A):c.1431C>T (p.Asn477=) rs775627499 0.00001
NM_004984.4(KIF5A):c.1458A>G (p.Glu486=) rs765567239 0.00001
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) rs1227040638 0.00001
NM_004984.4(KIF5A):c.1503G>A (p.Lys501=) rs143117314 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.1570-5C>T rs752180551 0.00001
NM_004984.4(KIF5A):c.1604G>A (p.Arg535Gln) rs777398624 0.00001
NM_004984.4(KIF5A):c.1611G>A (p.Gln537=) rs756959491 0.00001
NM_004984.4(KIF5A):c.1702G>A (p.Gly568Arg) rs763336788 0.00001
NM_004984.4(KIF5A):c.170C>T (p.Thr57Met) rs759785671 0.00001
NM_004984.4(KIF5A):c.1717-18C>T rs1882379859 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.180G>A (p.Glu60=) rs200900180 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.1890G>A (p.Gln630=) rs1401764909 0.00001
NM_004984.4(KIF5A):c.1896C>T (p.Leu632=) rs1161979577 0.00001
NM_004984.4(KIF5A):c.1948G>A (p.Val650Met) rs374729476 0.00001
NM_004984.4(KIF5A):c.1964G>A (p.Arg655Gln) rs772780431 0.00001
NM_004984.4(KIF5A):c.1986C>T (p.Asp662=) rs987655555 0.00001
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=) rs778038642 0.00001
NM_004984.4(KIF5A):c.2024-8T>G rs190187837 0.00001
NM_004984.4(KIF5A):c.2041G>A (p.Ala681Thr) rs1212119444 0.00001
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=) rs918777253 0.00001
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) rs756646293 0.00001
NM_004984.4(KIF5A):c.2124G>A (p.Glu708=) rs1224244947 0.00001
NM_004984.4(KIF5A):c.2157C>T (p.Asp719=) rs773330335 0.00001
NM_004984.4(KIF5A):c.217+7G>T rs764640404 0.00001
NM_004984.4(KIF5A):c.217+8A>G rs1305247048 0.00001
NM_004984.4(KIF5A):c.218-13C>T rs773063708 0.00001
NM_004984.4(KIF5A):c.218-4C>A rs749395504 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.2196A>G (p.Lys732=) rs1462609432 0.00001
NM_004984.4(KIF5A):c.2198+15G>A rs763862370 0.00001
NM_004984.4(KIF5A):c.2240C>A (p.Ala747Asp) rs749023785 0.00001
NM_004984.4(KIF5A):c.2247C>T (p.Tyr749=) rs770805531 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.2300+8G>A rs566046023 0.00001
NM_004984.4(KIF5A):c.2301-11T>C rs747055795 0.00001
NM_004984.4(KIF5A):c.2342A>G (p.Lys781Arg) rs1461718357 0.00001
NM_004984.4(KIF5A):c.2361+9T>C rs756847817 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.2433+9T>C rs1326778311 0.00001
NM_004984.4(KIF5A):c.2434-15T>C rs1233214204 0.00001
NM_004984.4(KIF5A):c.2451C>T (p.Pro817=) rs976137208 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.2538+7G>A rs575641161 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2571G>A (p.Glu857=) rs747531341 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.2755+3G>A rs1416076720 0.00001
NM_004984.4(KIF5A):c.2756-12T>A rs894629153 0.00001
NM_004984.4(KIF5A):c.2756-14T>C rs746607425 0.00001
NM_004984.4(KIF5A):c.2763C>T (p.Pro921=) rs769791770 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.2897C>T (p.Thr966Ile) rs149433823 0.00001
NM_004984.4(KIF5A):c.2909+14C>T rs762210073 0.00001
NM_004984.4(KIF5A):c.2909+15G>A rs376256320 0.00001
NM_004984.4(KIF5A):c.291+15T>C rs764730335 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.2992+15T>C rs1594926730 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.3020+1G>A rs1555179091 0.00001
NM_004984.4(KIF5A):c.3020+9G>A rs1297564196 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.3062A>G (p.Lys1021Arg) rs1186511989 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.324C>A (p.Ile108=) rs1408387685 0.00001
NM_004984.4(KIF5A):c.32A>C (p.Lys11Thr) rs748864821 0.00001
NM_004984.4(KIF5A):c.408T>C (p.Phe136=) rs770202664 0.00001
NM_004984.4(KIF5A):c.445+7G>A rs1594912944 0.00001
NM_004984.4(KIF5A):c.446-15A>T rs1453048734 0.00001
NM_004984.4(KIF5A):c.446-20C>G rs1387302349 0.00001
NM_004984.4(KIF5A):c.449C>G (p.Thr150Ser) rs1882017045 0.00001
NM_004984.4(KIF5A):c.465C>T (p.Ser155=) rs747071818 0.00001
NM_004984.4(KIF5A):c.501+17G>T rs749874893 0.00001
NM_004984.4(KIF5A):c.522G>A (p.Val174=) rs1443344036 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.531G>A (p.Pro177=) rs771476833 0.00001
NM_004984.4(KIF5A):c.652A>G (p.Met218Val) rs769491011 0.00001
NM_004984.4(KIF5A):c.659C>T (p.Thr220Met) rs772697257 0.00001
NM_004984.4(KIF5A):c.672C>T (p.Leu224=) rs770896632 0.00001
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr) rs139015012 0.00001
NM_004984.4(KIF5A):c.819+11C>T rs993330230 0.00001
NM_004984.4(KIF5A):c.819+12T>G rs1264041425 0.00001
NM_004984.4(KIF5A):c.820-4C>T rs776585528 0.00001
NM_004984.4(KIF5A):c.828T>C (p.Tyr276=) rs1485619677 0.00001
NM_004984.4(KIF5A):c.848A>G (p.Lys283Arg) rs1882169104 0.00001
NM_004984.4(KIF5A):c.930T>C (p.Asn310=) rs768004830 0.00001
NM_004984.4(KIF5A):c.93C>T (p.Ile31=) rs923503057 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
NM_004984.4(KIF5A):c.968+16C>G rs1188551649 0.00001
NM_004984.4(KIF5A):c.969-17C>T rs1010157708 0.00001
NM_004984.4(KIF5A):c.996A>G (p.Ser332=) rs1320583318 0.00001
NC_000012.11:g.(?_57960889)_(57965192_?)dup
NM_004984.2(KIF5A):c.2993del rs1882639725
NM_004984.4(KIF5A):c.-1_15del (p.Met1fs)
NM_004984.4(KIF5A):c.1029G>A (p.Lys343=)
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.1046A>G (p.Glu349Gly)
NM_004984.4(KIF5A):c.1047G>A (p.Glu349=)
NM_004984.4(KIF5A):c.1058C>G (p.Thr353Arg)
NM_004984.4(KIF5A):c.1080T>C (p.Ile360=)
NM_004984.4(KIF5A):c.1082C>A (p.Ala361Glu)
NM_004984.4(KIF5A):c.1082C>G (p.Ala361Gly)
NM_004984.4(KIF5A):c.1087C>T (p.Leu363=)
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.1117+7G>A
NM_004984.4(KIF5A):c.1117+9G>A
NM_004984.4(KIF5A):c.1118-12G>T rs2140163551
NM_004984.4(KIF5A):c.1118-15C>T
NM_004984.4(KIF5A):c.1118-17G>A
NM_004984.4(KIF5A):c.1118-18C>G
NM_004984.4(KIF5A):c.1118-18C>T
NM_004984.4(KIF5A):c.1118-8del
NM_004984.4(KIF5A):c.1124A>G (p.Asn375Ser)
NM_004984.4(KIF5A):c.1128G>A (p.Val376=) rs2140163565
NM_004984.4(KIF5A):c.1134G>A (p.Glu378=) rs1306333808
NM_004984.4(KIF5A):c.1142G>T (p.Arg381Leu) rs755855553
NM_004984.4(KIF5A):c.1144C>T (p.Leu382=)
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>C (p.Glu386Gln) rs1052752751
NM_004984.4(KIF5A):c.1158G>A (p.Glu386=) rs2140163611
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.1165C>T (p.Leu389=)
NM_004984.4(KIF5A):c.1171G>A (p.Ala391Thr)
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.4(KIF5A):c.1176G>C (p.Glu392Asp) rs75907338
NM_004984.4(KIF5A):c.1181G>A (p.Cys394Tyr)
NM_004984.4(KIF5A):c.118G>A (p.Val40Ile) rs1565690660
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.1194T>C (p.Pro398=)
NM_004984.4(KIF5A):c.1194T>G (p.Pro398=)
NM_004984.4(KIF5A):c.1199A>G (p.Asn400Ser)
NM_004984.4(KIF5A):c.1206C>T (p.Asn402=)
NM_004984.4(KIF5A):c.1208C>T (p.Ser403Leu)
NM_004984.4(KIF5A):c.120C>A (p.Val40=)
NM_004984.4(KIF5A):c.1213A>G (p.Ile405Val) rs1313023330
NM_004984.4(KIF5A):c.1215C>A (p.Ile405=)
NM_004984.4(KIF5A):c.1215C>T (p.Ile405=) rs267603611
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.1229C>T (p.Ala410Val)
NM_004984.4(KIF5A):c.1230G>T (p.Ala410=)
NM_004984.4(KIF5A):c.1233C>A (p.Pro411=)
NM_004984.4(KIF5A):c.1233C>G (p.Pro411=) rs757235645
NM_004984.4(KIF5A):c.1242G>A (p.Arg414=)
NM_004984.4(KIF5A):c.124A>G (p.Ile42Val)
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.1265G>A (p.Arg422His)
NM_004984.4(KIF5A):c.1267C>T (p.Arg423Cys)
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) rs149569914
NM_004984.4(KIF5A):c.1272_1273del (p.Leu424_Tyr425insTer)
NM_004984.4(KIF5A):c.1274A>G (p.Tyr425Cys)
NM_004984.4(KIF5A):c.1284T>C (p.Leu428=)
NM_004984.4(KIF5A):c.128G>C (p.Gly43Ala)
NM_004984.4(KIF5A):c.129+10G>T rs1881532622
NM_004984.4(KIF5A):c.129+11C>G
NM_004984.4(KIF5A):c.129+18G>A
NM_004984.4(KIF5A):c.129+6T>A
NM_004984.4(KIF5A):c.1290C>G (p.Asp430Glu)
NM_004984.4(KIF5A):c.1293+12C>T
NM_004984.4(KIF5A):c.1293+16C>T
NM_004984.4(KIF5A):c.1293+7G>A
NM_004984.4(KIF5A):c.1293+8C>A rs776493530
NM_004984.4(KIF5A):c.1294-10C>T
NM_004984.4(KIF5A):c.1297G>A (p.Asp433Asn)
NM_004984.4(KIF5A):c.129G>A (p.Gly43=)
NM_004984.4(KIF5A):c.130-14T>C rs2140158725
NM_004984.4(KIF5A):c.130-16T>C
NM_004984.4(KIF5A):c.1305C>G (p.Ile435Met)
NM_004984.4(KIF5A):c.1307A>C (p.Asn436Thr)
NM_004984.4(KIF5A):c.1308C>T (p.Asn436=) rs2140164720
NM_004984.4(KIF5A):c.1312C>G (p.Gln438Glu) rs2140164723
NM_004984.4(KIF5A):c.1316G>C (p.Ser439Thr)
NM_004984.4(KIF5A):c.1317C>T (p.Ser439=)
NM_004984.4(KIF5A):c.1342C>T (p.Gln448Ter)
NM_004984.4(KIF5A):c.1357G>A (p.Glu453Lys)
NM_004984.4(KIF5A):c.1362+10G>C
NM_004984.4(KIF5A):c.1362+17C>A rs372790531
NM_004984.4(KIF5A):c.1362+17C>G
NM_004984.4(KIF5A):c.1362+17C>T
NM_004984.4(KIF5A):c.1362+3A>C
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1362+8G>A
NM_004984.4(KIF5A):c.1363-11C>T
NM_004984.4(KIF5A):c.1363-13C>A
NM_004984.4(KIF5A):c.1363-13C>T
NM_004984.4(KIF5A):c.1363-4G>C rs2140165168
NM_004984.4(KIF5A):c.1363-5T>C rs747818828
NM_004984.4(KIF5A):c.136C>G (p.Pro46Ala)
NM_004984.4(KIF5A):c.1371G>A (p.Val457=) rs1173503363
NM_004984.4(KIF5A):c.1379G>A (p.Arg460Gln)
NM_004984.4(KIF5A):c.1384G>C (p.Asp462His)
NM_004984.4(KIF5A):c.1395G>A (p.Lys465=)
NM_004984.4(KIF5A):c.1397T>C (p.Val466Ala) rs2140165191
NM_004984.4(KIF5A):c.13A>G (p.Asn5Asp)
NM_004984.4(KIF5A):c.1402C>A (p.Arg468=) rs771021589
NM_004984.4(KIF5A):c.1402C>T (p.Arg468Trp)
NM_004984.4(KIF5A):c.1409T>C (p.Leu470Pro)
NM_004984.4(KIF5A):c.1410G>A (p.Leu470=)
NM_004984.4(KIF5A):c.1416C>G (p.His472Gln)
NM_004984.4(KIF5A):c.1419G>T (p.Leu473=)
NM_004984.4(KIF5A):c.1422A>G (p.Gln474=) rs1373971092
NM_004984.4(KIF5A):c.1422A>T (p.Gln474His) rs1373971092
NM_004984.4(KIF5A):c.1428G>A (p.Glu476=)
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.1437C>G (p.Ala479=)
NM_004984.4(KIF5A):c.1450G>T (p.Val484Leu)
NM_004984.4(KIF5A):c.1468G>A (p.Ala490Thr)
NM_004984.4(KIF5A):c.1470C>T (p.Ala490=)
NM_004984.4(KIF5A):c.1482G>A (p.Leu494=)
NM_004984.4(KIF5A):c.1486G>A (p.Val496Met) rs2140165263
NM_004984.4(KIF5A):c.1500G>A (p.Gln500=)
NM_004984.4(KIF5A):c.151C>G (p.Arg51Gly) rs769763596
NM_004984.4(KIF5A):c.1521G>A (p.Glu507=) rs1882277764
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.1548G>A (p.Val516=)
NM_004984.4(KIF5A):c.1550A>T (p.Asp517Val)
NM_004984.4(KIF5A):c.1557G>A (p.Leu519=)
NM_004984.4(KIF5A):c.1562A>G (p.Gln521Arg)
NM_004984.4(KIF5A):c.1569+4A>G
NM_004984.4(KIF5A):c.1569+8G>A rs2140165313
NM_004984.4(KIF5A):c.1570-18C>T
NM_004984.4(KIF5A):c.1570-20A>G
NM_004984.4(KIF5A):c.1570-6C>T
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.1590G>A (p.Glu530=)
NM_004984.4(KIF5A):c.1590del (p.Glu530fs) rs2140165538
NM_004984.4(KIF5A):c.1600C>A (p.Gln534Lys)
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.162C>T (p.Pro54=)
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.1653G>T (p.Leu551=)
NM_004984.4(KIF5A):c.1656C>G (p.Asn552Lys) rs776685173
NM_004984.4(KIF5A):c.1660C>T (p.Leu554=)
NM_004984.4(KIF5A):c.1662G>A (p.Leu554=) rs2140165629
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.1674G>A (p.Leu558=) rs2140165640
NM_004984.4(KIF5A):c.1685G>A (p.Ser562Asn) rs2140165648
NM_004984.4(KIF5A):c.1701C>T (p.Asn567=) rs2140165659
NM_004984.4(KIF5A):c.1705G>A (p.Glu569Lys)
NM_004984.4(KIF5A):c.1716+10G>A
NM_004984.4(KIF5A):c.1716+11A>G
NM_004984.4(KIF5A):c.1717-10A>G
NM_004984.4(KIF5A):c.1717-12T>C
NM_004984.4(KIF5A):c.1717-13T>C rs2140167357
NM_004984.4(KIF5A):c.1717-16_1717-14del
NM_004984.4(KIF5A):c.1717-19C>T
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.171G>A (p.Thr57=)
NM_004984.4(KIF5A):c.1728C>T (p.Ile576=)
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.1743G>A (p.Glu581=)
NM_004984.4(KIF5A):c.1752C>T (p.Phe584=)
NM_004984.4(KIF5A):c.1759G>A (p.Ala587Thr)
NM_004984.4(KIF5A):c.1770C>T (p.Tyr590=)
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val)
NM_004984.4(KIF5A):c.1776C>T (p.Ser592=) rs2140167424
NM_004984.4(KIF5A):c.1796A>C (p.Lys599Thr)
NM_004984.4(KIF5A):c.1797G>A (p.Lys599=)
NM_004984.4(KIF5A):c.1803G>A (p.Val601=)
NM_004984.4(KIF5A):c.1806C>T (p.Val602=)
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln) rs931757596
NM_004984.4(KIF5A):c.1816C>T (p.Arg606Trp)
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.1894C>T (p.Leu632Phe)
NM_004984.4(KIF5A):c.1896C>A (p.Leu632=)
NM_004984.4(KIF5A):c.1897A>G (p.Ile633Val)
NM_004984.4(KIF5A):c.1900T>A (p.Ser634Thr) rs1343792922
NM_004984.4(KIF5A):c.1901_1905delCTCAG (p.Ser634_Gln635insTer)
NM_004984.4(KIF5A):c.1905+17G>A rs2140167547
NM_004984.4(KIF5A):c.1905+2_1905+3delinsGC
NM_004984.4(KIF5A):c.1905+5G>A
NM_004984.4(KIF5A):c.1905+9C>G rs2140167541
NM_004984.4(KIF5A):c.1906-10C>G rs561056213
NM_004984.4(KIF5A):c.1906-12T>C
NM_004984.4(KIF5A):c.1906-15A>G
NM_004984.4(KIF5A):c.1906-18C>T rs764872296
NM_004984.4(KIF5A):c.1909G>A (p.Glu637Lys)
NM_004984.4(KIF5A):c.1911G>A (p.Glu637=)
NM_004984.4(KIF5A):c.1921C>T (p.Arg641Cys)
NM_004984.4(KIF5A):c.1922G>A (p.Arg641His)
NM_004984.4(KIF5A):c.1926G>C (p.Ser642=) rs377649745
NM_004984.4(KIF5A):c.1929T>A (p.Leu643=) rs1330835160
NM_004984.4(KIF5A):c.1929T>C (p.Leu643=)
NM_004984.4(KIF5A):c.1931C>T (p.Thr644Met)
NM_004984.4(KIF5A):c.1938C>T (p.Tyr646=)
NM_004984.4(KIF5A):c.1946G>A (p.Ser649Asn)
NM_004984.4(KIF5A):c.1948G>T (p.Val650Leu)
NM_004984.4(KIF5A):c.1953G>C (p.Glu651Asp)
NM_004984.4(KIF5A):c.1955T>C (p.Leu652Pro)
NM_004984.4(KIF5A):c.1956A>G (p.Leu652=)
NM_004984.4(KIF5A):c.1958A>G (p.Lys653Arg)
NM_004984.4(KIF5A):c.1959G>A (p.Lys653=)
NM_004984.4(KIF5A):c.1982A>G (p.Tyr661Cys)
NM_004984.4(KIF5A):c.1994G>A (p.Ser665Asn)
NM_004984.4(KIF5A):c.1998T>C (p.Asp666=) rs1594922304
NM_004984.4(KIF5A):c.199G>C (p.Ala67Pro)
NM_004984.4(KIF5A):c.2002C>G (p.Leu668Val)
NM_004984.4(KIF5A):c.2010G>C (p.Lys670Asn)
NM_004984.4(KIF5A):c.2023+12T>C
NM_004984.4(KIF5A):c.2023+16A>G
NM_004984.4(KIF5A):c.2024-13C>T rs1265099591
NM_004984.4(KIF5A):c.2024-5C>T
NM_004984.4(KIF5A):c.2024-6C>T
NM_004984.4(KIF5A):c.2030_2031del (p.Val677fs)
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.2055G>A (p.Lys685=) rs2140168069
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
NM_004984.4(KIF5A):c.2068C>T (p.Gln690Ter)
NM_004984.4(KIF5A):c.2079T>C (p.Asp693=) rs756599532
NM_004984.4(KIF5A):c.2083G>A (p.Val695Met)
NM_004984.4(KIF5A):c.2088+15T>C
NM_004984.4(KIF5A):c.2088+17T>A
NM_004984.4(KIF5A):c.2088+3G>A
NM_004984.4(KIF5A):c.2089-11G>T rs755221355
NM_004984.4(KIF5A):c.2089-11del
NM_004984.4(KIF5A):c.2089-13G>C rs2140168188
NM_004984.4(KIF5A):c.2089-14G>A rs2140168183
NM_004984.4(KIF5A):c.2089-14_2089-10del rs1282416657
NM_004984.4(KIF5A):c.2089-16G>A
NM_004984.4(KIF5A):c.2089-18G>A
NM_004984.4(KIF5A):c.2089-4G>C
NM_004984.4(KIF5A):c.2097G>A (p.Leu699=)
NM_004984.4(KIF5A):c.2103G>A (p.Leu701=)
NM_004984.4(KIF5A):c.2114G>T (p.Ser705Ile)
NM_004984.4(KIF5A):c.2118C>T (p.His706=)
NM_004984.4(KIF5A):c.2133C>T (p.His711=)
NM_004984.4(KIF5A):c.2139G>C (p.Gln713His) rs2140168258
NM_004984.4(KIF5A):c.2146C>A (p.Arg716=) rs377539747
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.2166C>T (p.Asn722=)
NM_004984.4(KIF5A):c.2167G>A (p.Glu723Lys)
NM_004984.4(KIF5A):c.217+11dup
NM_004984.4(KIF5A):c.217+6A>C
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
NM_004984.4(KIF5A):c.2178G>A (p.Lys726=)
NM_004984.4(KIF5A):c.218-11G>A
NM_004984.4(KIF5A):c.218-11G>C
NM_004984.4(KIF5A):c.218-12T>C
NM_004984.4(KIF5A):c.218-14A>G
NM_004984.4(KIF5A):c.218-16C>T rs900924640
NM_004984.4(KIF5A):c.218-17T>C rs2140158825
NM_004984.4(KIF5A):c.218-19T>C rs2140158822
NM_004984.4(KIF5A):c.218-20T>G
NM_004984.4(KIF5A):c.218-7C>G rs1377018724
NM_004984.4(KIF5A):c.218-9C>T rs936245243
NM_004984.4(KIF5A):c.2180C>A (p.Thr727Asn)
NM_004984.4(KIF5A):c.2180C>T (p.Thr727Ile)
NM_004984.4(KIF5A):c.2181C>T (p.Thr727=) rs754410882
NM_004984.4(KIF5A):c.2189A>G (p.Glu730Gly) rs751019108
NM_004984.4(KIF5A):c.2193C>G (p.Leu731=) rs1565702439
NM_004984.4(KIF5A):c.2194A>G (p.Lys732Glu)
NM_004984.4(KIF5A):c.2198+16G>A
NM_004984.4(KIF5A):c.2198+18C>T
NM_004984.4(KIF5A):c.2198+4A>G
NM_004984.4(KIF5A):c.2198+6G>C
NM_004984.4(KIF5A):c.2199-15del
NM_004984.4(KIF5A):c.2199-8C>T
NM_004984.4(KIF5A):c.2199-9G>C
NM_004984.4(KIF5A):c.2211G>A (p.Lys737=) rs2140168629
NM_004984.4(KIF5A):c.2214C>G (p.Leu738=)
NM_004984.4(KIF5A):c.2216A>G (p.Gln739Arg) rs2140168633
NM_004984.4(KIF5A):c.2217G>A (p.Gln739=) rs755813386
NM_004984.4(KIF5A):c.2227G>A (p.Glu743Lys) rs1369177203
NM_004984.4(KIF5A):c.222C>G (p.Val74=)
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.2300+22_2300+36del rs2140168722
NM_004984.4(KIF5A):c.2300C>G (p.Thr767Arg) rs765493045
NM_004984.4(KIF5A):c.2300C>T (p.Thr767Ile)
NM_004984.4(KIF5A):c.2301-10C>T
NM_004984.4(KIF5A):c.2301-20C>T rs2140169231
NM_004984.4(KIF5A):c.2304T>C (p.Phe768=) rs773966928
NM_004984.4(KIF5A):c.2307G>A (p.Leu769=) rs1365812959
NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp) rs1060502525
NM_004984.4(KIF5A):c.2311G>A (p.Glu771Lys)
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.2315G>A (p.Arg772Gln) rs537001094
NM_004984.4(KIF5A):c.2318A>G (p.His773Arg)
NM_004984.4(KIF5A):c.2327C>T (p.Ser776Phe)
NM_004984.4(KIF5A):c.2330A>G (p.Lys777Arg)
NM_004984.4(KIF5A):c.2333A>G (p.Gln778Arg) rs2140169276
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+14T>C rs2140169321
NM_004984.4(KIF5A):c.2361+16C>A rs1031343176
NM_004984.4(KIF5A):c.2361+6T>C
NM_004984.4(KIF5A):c.2362-10T>C
NM_004984.4(KIF5A):c.2362-12C>A
NM_004984.4(KIF5A):c.2362-19T>C
NM_004984.4(KIF5A):c.2362-6T>C
NM_004984.4(KIF5A):c.2366G>A (p.Arg789Gln)
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.2400G>C (p.Leu800=)
NM_004984.4(KIF5A):c.2417C>T (p.Thr806Met)
NM_004984.4(KIF5A):c.2418G>C (p.Thr806=)
NM_004984.4(KIF5A):c.2422C>A (p.Arg808=)
NM_004984.4(KIF5A):c.2423G>A (p.Arg808Gln)
NM_004984.4(KIF5A):c.2427C>T (p.Val809=)
NM_004984.4(KIF5A):c.2433+14T>G
NM_004984.4(KIF5A):c.2433+18G>A rs1594924065
NM_004984.4(KIF5A):c.2433+8C>T
NM_004984.4(KIF5A):c.2434-12A>G
NM_004984.4(KIF5A):c.2434-14C>G
NM_004984.4(KIF5A):c.2434-15del rs759514259
NM_004984.4(KIF5A):c.2434A>G (p.Ser812Gly)
NM_004984.4(KIF5A):c.2436T>G (p.Ser812Arg)
NM_004984.4(KIF5A):c.243C>A (p.Thr81=)
NM_004984.4(KIF5A):c.243C>T (p.Thr81=)
NM_004984.4(KIF5A):c.2448G>A (p.Glu816=)
NM_004984.4(KIF5A):c.244A>G (p.Ile82Val)
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) rs759472256
NM_004984.4(KIF5A):c.2475C>T (p.Ser825=)
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.2538+13T>C
NM_004984.4(KIF5A):c.2538+18G>A rs747524040
NM_004984.4(KIF5A):c.2538+5G>C rs2140169708
NM_004984.4(KIF5A):c.2538+9C>T
NM_004984.4(KIF5A):c.2539-13G>T rs1057523621
NM_004984.4(KIF5A):c.2539-14G>A
NM_004984.4(KIF5A):c.2539-15T>C
NM_004984.4(KIF5A):c.2539-15del
NM_004984.4(KIF5A):c.2539-18C>T rs2140171386
NM_004984.4(KIF5A):c.2539-6C>T
NM_004984.4(KIF5A):c.2539-8C>G rs2140171397
NM_004984.4(KIF5A):c.2539-9G>C
NM_004984.4(KIF5A):c.2539C>A (p.Leu847Met)
NM_004984.4(KIF5A):c.2545C>T (p.Arg849Cys) rs2140171409
NM_004984.4(KIF5A):c.2550C>T (p.Asp850=)
NM_004984.4(KIF5A):c.255T>C (p.Tyr85=) rs1881978589
NM_004984.4(KIF5A):c.2578A>C (p.Lys860Gln)
NM_004984.4(KIF5A):c.2589A>G (p.Lys863=)
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) rs1882578572
NM_004984.4(KIF5A):c.2604G>A (p.Thr868=)
NM_004984.4(KIF5A):c.2608G>T (p.Glu870Ter) rs1594925773
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.2629G>A (p.Gly877Ser)
NM_004984.4(KIF5A):c.2631T>C (p.Gly877=)
NM_004984.4(KIF5A):c.2653G>A (p.Gly885Ser)
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) rs1017745641
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.2675G>A (p.Arg892Gln)
NM_004984.4(KIF5A):c.2685G>A (p.Gln895=)
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.2700C>T (p.Ile900=)
NM_004984.4(KIF5A):c.2709C>T (p.Ala903=)
NM_004984.4(KIF5A):c.270A>T (p.Ser90=) rs2140158864
NM_004984.4(KIF5A):c.2719A>G (p.Lys907Glu)
NM_004984.4(KIF5A):c.2720A>T (p.Lys907Met)
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.2739C>G (p.Gly913=) rs1435453925
NM_004984.4(KIF5A):c.2741A>G (p.His914Arg) rs1882585121
NM_004984.4(KIF5A):c.2755+16C>T
NM_004984.4(KIF5A):c.2755+3G>C rs1416076720
NM_004984.4(KIF5A):c.2755+4A>C
NM_004984.4(KIF5A):c.2755+8G>A
NM_004984.4(KIF5A):c.2755+9G>A
NM_004984.4(KIF5A):c.2756-2A>G
NM_004984.4(KIF5A):c.2756-4G>A
NM_004984.4(KIF5A):c.2756-5T>G
NM_004984.4(KIF5A):c.2756-8T>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.2768G>A (p.Arg923Gln)
NM_004984.4(KIF5A):c.2771C>T (p.Pro924Leu)
NM_004984.4(KIF5A):c.2778C>A (p.His926Gln)
NM_004984.4(KIF5A):c.2783C>A (p.Pro928Gln)
NM_004984.4(KIF5A):c.2784A>G (p.Pro928=) rs1467156414
NM_004984.4(KIF5A):c.2788T>C (p.Ser930Pro)
NM_004984.4(KIF5A):c.2790C>G (p.Ser930=)
NM_004984.4(KIF5A):c.2800A>G (p.Asn934Asp)
NM_004984.4(KIF5A):c.2802C>T (p.Asn934=) rs1381639610
NM_004984.4(KIF5A):c.2804C>T (p.Pro935Leu) rs1272664645
NM_004984.4(KIF5A):c.2807A>G (p.Tyr936Cys)
NM_004984.4(KIF5A):c.2808T>C (p.Tyr936=)
NM_004984.4(KIF5A):c.280C>T (p.His94Tyr)
NM_004984.4(KIF5A):c.2810G>A (p.Gly937Asp)
NM_004984.4(KIF5A):c.2815C>T (p.Arg939Trp) rs779422769
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.2817G>A (p.Arg939=)
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.285C>T (p.Thr95=)
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe) rs1882602063
NM_004984.4(KIF5A):c.2889C>G (p.Pro963=)
NM_004984.4(KIF5A):c.2894C>T (p.Ser965Phe)
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.2909+10C>T
NM_004984.4(KIF5A):c.2909+11A>G
NM_004984.4(KIF5A):c.2909+12C>T
NM_004984.4(KIF5A):c.2909+18T>C
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+18G>T
NM_004984.4(KIF5A):c.291+6G>C
NM_004984.4(KIF5A):c.2910-10C>T
NM_004984.4(KIF5A):c.2910-13C>G
NM_004984.4(KIF5A):c.2910-17T>C
NM_004984.4(KIF5A):c.2910-3C>G
NM_004984.4(KIF5A):c.2910-4_2910-3delinsTT rs2140172085
NM_004984.4(KIF5A):c.2913_2914insA (p.Ala972fs) rs1565705251
NM_004984.4(KIF5A):c.2916A>C (p.Ala972=)
NM_004984.4(KIF5A):c.2919C>G (p.Asn973Lys)
NM_004984.4(KIF5A):c.292-14C>T
NM_004984.4(KIF5A):c.292-5G>T rs201917057
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.2930G>C (p.Ser977Thr) rs1159045681
NM_004984.4(KIF5A):c.2933G>C (p.Ser978Thr)
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.2942C>A (p.Thr981Lys)
NM_004984.4(KIF5A):c.2945C>T (p.Ser982Phe) rs1211468940
NM_004984.4(KIF5A):c.2952C>A (p.Gly984=)
NM_004984.4(KIF5A):c.2952C>T (p.Gly984=)
NM_004984.4(KIF5A):c.2953G>T (p.Gly985Cys) rs371548640
NM_004984.4(KIF5A):c.2956C>A (p.Pro986Thr)
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.2958C>T (p.Pro986=) rs1236499166
NM_004984.4(KIF5A):c.297G>T (p.Lys99Asn)
NM_004984.4(KIF5A):c.2992+12dup rs576635518
NM_004984.4(KIF5A):c.2992+18G>C rs745773241
NM_004984.4(KIF5A):c.2992+20A>T
NM_004984.4(KIF5A):c.2992+8A>G
NM_004984.4(KIF5A):c.2993-12T>G rs542701424
NM_004984.4(KIF5A):c.2993-13A>C rs2140172663
NM_004984.4(KIF5A):c.2993-15T>C
NM_004984.4(KIF5A):c.2993-16A>G rs1172104617
NM_004984.4(KIF5A):c.2993-17_2993-15del
NM_004984.4(KIF5A):c.2993-20C>G
NM_004984.4(KIF5A):c.2993-20C>T rs375827219
NM_004984.4(KIF5A):c.2993-3C>T rs1402429085
NM_004984.4(KIF5A):c.2994_2996del (p.Asn999del)
NM_004984.4(KIF5A):c.2996del (p.Asn999fs) rs2140172678
NM_004984.4(KIF5A):c.3000C>G (p.Ala1000=)
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.3019A>G (p.Arg1007Gly) rs1555179087
NM_004984.4(KIF5A):c.3020+11C>A
NM_004984.4(KIF5A):c.3020+19C>T rs780107972
NM_004984.4(KIF5A):c.3020+1G>C rs1555179091
NM_004984.4(KIF5A):c.3020+1G>T rs1555179091
NM_004984.4(KIF5A):c.3020+22del rs751099911
NM_004984.4(KIF5A):c.3020+3A>G
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) rs1060502523
NM_004984.4(KIF5A):c.3020G>T (p.Arg1007Met)
NM_004984.4(KIF5A):c.3021-18G>A rs768178863
NM_004984.4(KIF5A):c.3021-6C>T
NM_004984.4(KIF5A):c.3027C>G (p.Asp1009Glu)
NM_004984.4(KIF5A):c.3030G>A (p.Leu1010=) rs1231817690
NM_004984.4(KIF5A):c.3031C>A (p.Pro1011Thr)
NM_004984.4(KIF5A):c.3033G>T (p.Pro1011=)
NM_004984.4(KIF5A):c.3036T>G (p.Cys1012Trp)
NM_004984.4(KIF5A):c.3039C>G (p.Gly1013=)
NM_004984.4(KIF5A):c.303C>T (p.His101=) rs769191561
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.3062A>C (p.Lys1021Thr) rs1186511989
NM_004984.4(KIF5A):c.3067T>C (p.Phe1023Leu)
NM_004984.4(KIF5A):c.3074T>C (p.Leu1025Pro)
NM_004984.4(KIF5A):c.3081A>G (p.Gln1027=)
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.3096C>T (p.Ser1032=) rs2140173077
NM_004984.4(KIF5A):c.30C>A (p.Ile10=)
NM_004984.4(KIF5A):c.327T>A (p.Ile109=) rs777103564
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+16C>T
NM_004984.4(KIF5A):c.396+18G>T
NM_004984.4(KIF5A):c.396+5C>T
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004984.4(KIF5A):c.3G>A (p.Met1Ile)
NM_004984.4(KIF5A):c.405C>T (p.Tyr135=)
NM_004984.4(KIF5A):c.414T>G (p.Ile138Met)
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.42C>T (p.Cys14=)
NM_004984.4(KIF5A):c.431G>A (p.Arg144His)
NM_004984.4(KIF5A):c.433G>C (p.Asp145His) rs1060502522
NM_004984.4(KIF5A):c.43C>T (p.Arg15Ter) rs2140150119
NM_004984.4(KIF5A):c.445+14C>T
NM_004984.4(KIF5A):c.445+16del rs1410804703
NM_004984.4(KIF5A):c.445+18G>A
NM_004984.4(KIF5A):c.446-16del
NM_004984.4(KIF5A):c.446-19C>T
NM_004984.4(KIF5A):c.450C>A (p.Thr150=) rs369182603
NM_004984.4(KIF5A):c.453G>A (p.Lys151=)
NM_004984.4(KIF5A):c.462G>C (p.Leu154=) rs1882017601
NM_004984.4(KIF5A):c.465C>G (p.Ser155=)
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.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.485G>A (p.Arg162Gln)
NM_004984.4(KIF5A):c.492A>G (p.Pro164=) rs2140159692
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.500del (p.Lys167fs)
NM_004984.4(KIF5A):c.501+11G>A
NM_004984.4(KIF5A):c.501+18G>A rs2140159719
NM_004984.4(KIF5A):c.501+20A>G rs2140159724
NM_004984.4(KIF5A):c.501+20_501+32del
NM_004984.4(KIF5A):c.501+6A>C rs2140159703
NM_004984.4(KIF5A):c.502-17C>A
NM_004984.4(KIF5A):c.502-19_502-18del rs770023686
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.504T>C (p.Gly168=)
NM_004984.4(KIF5A):c.506G>A (p.Cys169Tyr)
NM_004984.4(KIF5A):c.514C>T (p.Arg172Cys) rs1159429693
NM_004984.4(KIF5A):c.51G>T (p.Arg17=)
NM_004984.4(KIF5A):c.530C>G (p.Pro177Arg) rs1319232269
NM_004984.4(KIF5A):c.544G>T (p.Asp182Tyr)
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) rs1882089233
NM_004984.4(KIF5A):c.552_555del (p.Ile184fs)
NM_004984.4(KIF5A):c.555T>C (p.Asp185=)
NM_004984.4(KIF5A):c.565T>G (p.Ser189Ala) rs2140161267
NM_004984.4(KIF5A):c.571C>T (p.Arg191Cys)
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.589+14C>A
NM_004984.4(KIF5A):c.589+20G>A
NM_004984.4(KIF5A):c.589+20del rs2140161312
NM_004984.4(KIF5A):c.589+7G>A rs921831469
NM_004984.4(KIF5A):c.589+9G>C
NM_004984.4(KIF5A):c.590-10G>C
NM_004984.4(KIF5A):c.590-17C>T
NM_004984.4(KIF5A):c.590-3C>T rs1882102799
NM_004984.4(KIF5A):c.591C>T (p.Asn197=)
NM_004984.4(KIF5A):c.593T>C (p.Met198Thr)
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys) rs11172251
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.611G>T (p.Arg204Leu)
NM_004984.4(KIF5A):c.621C>A (p.Ser207Arg)
NM_004984.4(KIF5A):c.621C>T (p.Ser207=)
NM_004984.4(KIF5A):c.627C>G (p.Phe209Leu)
NM_004984.4(KIF5A):c.630C>T (p.Leu210=)
NM_004984.4(KIF5A):c.673A>T (p.Ser225Cys) rs911601615
NM_004984.4(KIF5A):c.684G>A (p.Leu228=)
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.6G>C (p.Ala2=)
NM_004984.4(KIF5A):c.705G>T (p.Gly235=)
NM_004984.4(KIF5A):c.714+11C>T rs759607800
NM_004984.4(KIF5A):c.714+15G>A
NM_004984.4(KIF5A):c.714+6G>C rs1882106517
NM_004984.4(KIF5A):c.714+7G>A
NM_004984.4(KIF5A):c.714+9T>C rs878854750
NM_004984.4(KIF5A):c.715-11T>G rs2140162529
NM_004984.4(KIF5A):c.719G>T (p.Ser240Ile) rs2140162534
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.735G>A (p.Glu245=)
NM_004984.4(KIF5A):c.73C>G (p.Leu25Val)
NM_004984.4(KIF5A):c.741C>T (p.Ala247=)
NM_004984.4(KIF5A):c.742G>A (p.Val248Met)
NM_004984.4(KIF5A):c.742G>T (p.Val248Leu)
NM_004984.4(KIF5A):c.744G>C (p.Val248=)
NM_004984.4(KIF5A):c.745C>G (p.Leu249Val)
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.754G>C (p.Ala252Pro)
NM_004984.4(KIF5A):c.762T>C (p.Asn254=)
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val) rs2140162576
NM_004984.4(KIF5A):c.765CAA[1] (p.Asn256del) rs1565698514
NM_004984.4(KIF5A):c.772T>C (p.Ser258Pro) rs1882158696
NM_004984.4(KIF5A):c.775C>T (p.Leu259=)
NM_004984.4(KIF5A):c.782C>T (p.Ala261Val) rs2140162600
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp) rs2140162605
NM_004984.4(KIF5A):c.795G>A (p.Val265=) rs2140162612
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.819+15G>A
NM_004984.4(KIF5A):c.819+16G>T
NM_004984.4(KIF5A):c.819+7G>T
NM_004984.4(KIF5A):c.820-13C>T
NM_004984.4(KIF5A):c.820-14C>A rs944672661
NM_004984.4(KIF5A):c.820-3C>T
NM_004984.4(KIF5A):c.820-3del rs1349311406
NM_004984.4(KIF5A):c.820-5C>A
NM_004984.4(KIF5A):c.824G>A (p.Ser275Asn) rs2140162832
NM_004984.4(KIF5A):c.825C>T (p.Ser275=)
NM_004984.4(KIF5A):c.826T>C (p.Tyr276His) rs2140162837
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.839G>C (p.Arg280Pro)
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr) rs1224640834
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.882A>G (p.Gly294=) rs2140162926
NM_004984.4(KIF5A):c.888C>T (p.Cys296=) rs773373166
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.906C>T (p.Ile302=)
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.936A>C (p.Ala312=) rs1882172406
NM_004984.4(KIF5A):c.941C>A (p.Thr314Asn)
NM_004984.4(KIF5A):c.965A>G (p.Gln322Arg)
NM_004984.4(KIF5A):c.967C>A (p.Arg323=)
NM_004984.4(KIF5A):c.968+16C>T rs1188551649
NM_004984.4(KIF5A):c.968+8G>T
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000
NM_004984.4(KIF5A):c.969-15C>T
NM_004984.4(KIF5A):c.969-17C>G
NM_004984.4(KIF5A):c.969-1G>C rs1882179247
NM_004984.4(KIF5A):c.969-5C>T
NM_004984.4(KIF5A):c.969-9C>T
NM_004984.4(KIF5A):c.969-9_969-7del
NM_004984.4(KIF5A):c.969-9del
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.990T>C (p.Thr330=)
NM_004984.4(KIF5A):c.996A>C (p.Ser332=)
NM_004984.4(KIF5A):c.997G>A (p.Val333Ile)

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