NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn)
|
rs199862937
|
0.00009
|
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile)
|
rs920291906
|
0.00007
|
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln)
|
rs745890180
|
0.00006
|
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe)
|
rs772883826
|
0.00006
|
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
|
rs750116273
|
0.00006
|
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
NM_000127.3(EXT1):c.1143C>T (p.Gly381=)
|
rs376640197
|
0.00003
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly)
|
rs147847222
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
NM_000127.3(EXT1):c.1705G>A (p.Val569Met)
|
rs1428345482
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro)
|
rs758347621
|
0.00002
|
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
|
rs765050783
|
0.00002
|
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln)
|
rs748651137
|
0.00002
|
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys)
|
rs757411850
|
0.00001
|
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)
|
rs773539946
|
0.00001
|
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys)
|
rs1375505148
|
0.00001
|
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys)
|
rs750748090
|
0.00001
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
NM_000127.3(EXT1):c.1536+6C>T
|
rs765347315
|
0.00001
|
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly)
|
rs1368926188
|
0.00001
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu)
|
rs1305323658
|
0.00001
|
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg)
|
rs1309175788
|
0.00001
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
|
rs146967463
|
0.00001
|
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn)
|
rs1252579899
|
0.00001
|
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
|
rs773393953
|
0.00001
|
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
|
rs1373349863
|
0.00001
|
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
|
rs1188494289
|
0.00001
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu)
|
rs778849200
|
0.00001
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
|
rs146127753
|
0.00001
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
|
rs773394301
|
0.00001
|
NM_000127.3(EXT1):c.419G>T (p.Gly140Val)
|
rs769557488
|
0.00001
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser)
|
rs753036738
|
0.00001
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
NC_000008.10:g.(?_118819446)_(119123285_?)dup
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)dup
|
|
|
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg)
|
rs1587004341
|
|
NM_000127.3(EXT1):c.1013G>A (p.Arg338His)
|
rs1288618931
|
|
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu)
|
rs1206600641
|
|
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
|
|
|
NM_000127.3(EXT1):c.1056+4A>G
|
|
|
NM_000127.3(EXT1):c.1057-8T>C
|
|
|
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
|
|
|
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
|
|
|
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr)
|
rs1812173796
|
|
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del)
|
rs1782100732
|
|
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
|
|
|
NM_000127.3(EXT1):c.1164+3A>G
|
|
|
NM_000127.3(EXT1):c.1165-3C>G
|
rs1812078461
|
|
NM_000127.3(EXT1):c.1165-6T>G
|
rs1812078551
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
|
|
|
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
|
|
|
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
|
|
|
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
|
|
|
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
|
|
|
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
|
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
|
|
|
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
|
rs1812077443
|
|
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys)
|
rs755694640
|
|
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
|
rs1812075737
|
|
NM_000127.3(EXT1):c.1284+2dup
|
|
|
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe)
|
rs2129749685
|
|
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
|
|
|
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
|
|
|
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
|
|
|
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
|
|
|
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
|
|
|
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
|
|
|
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
|
|
|
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
|
rs1811942159
|
|
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
|
rs1430395411
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
|
|
|
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly)
|
rs2129749125
|
|
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser)
|
rs2129749069
|
|
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr)
|
rs746738537
|
|
NM_000127.3(EXT1):c.1417+6T>C
|
rs1811940247
|
|
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
|
|
|
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn)
|
rs759514310
|
|
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
|
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
|
|
|
NM_000127.3(EXT1):c.1536+3G>A
|
rs2129740657
|
|
NM_000127.3(EXT1):c.1536+5G>C
|
|
|
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
|
rs1811889486
|
|
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
|
|
|
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
|
|
|
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
|
|
|
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
|
|
|
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
|
|
|
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
|
|
|
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
|
|
|
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr)
|
rs751582814
|
|
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
|
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
|
|
|
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
|
|
|
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr)
|
rs2130045112
|
|
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
|
|
|
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
|
|
|
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
|
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
|
|
|
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
|
rs1823251698
|
|
NM_000127.3(EXT1):c.1883+6del
|
|
|
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
|
|
|
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
|
|
|
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
|
rs1823215172
|
|
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
|
|
|
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
|
rs187891947
|
|
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
|
rs1199624139
|
|
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
|
|
|
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
|
rs1823214606
|
|
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
|
|
|
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp)
|
rs2130046079
|
|
NM_000127.3(EXT1):c.200C>A (p.Pro67His)
|
rs371817652
|
|
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)
|
rs371817652
|
|
NM_000127.3(EXT1):c.2055+5G>A
|
rs1823212383
|
|
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
|
|
|
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys)
|
rs1586987089
|
|
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met)
|
rs756718693
|
|
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
|
|
|
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
|
|
|
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
|
rs751787859
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
|
|
|
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
|
|
|
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
|
|
|
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
|
|
|
NM_000127.3(EXT1):c.238A>G (p.Ile80Val)
|
rs1817886276
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
NM_000127.3(EXT1):c.260A>T (p.Asp87Val)
|
rs2130044605
|
|
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
|
|
|
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn)
|
rs1402667727
|
|
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
|
|
|
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn)
|
rs2130044422
|
|
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
|
rs1817884143
|
|
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe)
|
rs769143352
|
|
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe)
|
rs2130044245
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
|
|
|
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu)
|
rs761940324
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
|
|
|
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
|
|
|
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
|
|
|
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
|
rs1817880635
|
|
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
|
rs1188458258
|
|
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
|
rs1817880148
|
|
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
|
|
|
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr)
|
rs2130043370
|
|
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
|
|
|
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
|
rs1227559201
|
|
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp)
|
rs1448140995
|
|
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
|
|
|
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
|
|
|
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
|
|
|
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
|
rs775696069
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
|
rs1817877229
|
|
NM_000127.3(EXT1):c.568_570del (p.His190del)
|
rs1817877188
|
|
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
|
|
|
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
|
rs1817877044
|
|
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu)
|
rs2130042837
|
|
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
|
rs1817876310
|
|
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
|
rs1817893321
|
|
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
|
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
|
|
|
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly)
|
rs1554601506
|
|
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
|
|
|
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
|
|
|
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
|
rs1817873196
|
|
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
|
|
|
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
|
|
|
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
|
|
|
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
|
|
|
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
|
rs1817871592
|
|
NM_000127.3(EXT1):c.773C>A (p.Pro258His)
|
rs2130041856
|
|
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile)
|
rs2130041754
|
|
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
|
|
|
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr)
|
rs2130041549
|
|
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr)
|
rs1586279403
|
|
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
|
|
|
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
|
|
|
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
|
|
|
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
|
|
|
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
NM_000127.3(EXT1):c.874G>T (p.Val292Phe)
|
rs1586279359
|
|
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
|
rs1817868656
|
|
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
|
|
|
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg)
|
rs1413726979
|
|
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
|
rs1817867722
|
|
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
|
|
|
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
|
rs748945641
|
|
NM_000127.3(EXT1):c.962+5G>C
|
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
|
|
|
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
|
|
|
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
|
rs2129791337
|
|
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
|
|
|