NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser)
|
rs2297950
|
0.29831
|
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter)
|
rs3831317
|
0.16576
|
NM_003465.3(CHIT1):c.*534T>G
|
rs73066394
|
0.07143
|
NM_003465.2(CHIT1):c.-81G>A
|
rs115551220
|
0.03407
|
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg)
|
rs9943208
|
0.02564
|
NM_003465.2(CHIT1):c.-71G>A
|
rs11800196
|
0.01398
|
NM_003465.3(CHIT1):c.764C>G (p.Thr255Ser)
|
rs61745299
|
0.00985
|
NM_003465.3(CHIT1):c.119G>A (p.Arg40His)
|
rs35920428
|
0.00936
|
NM_003465.3(CHIT1):c.*119C>T
|
rs56391640
|
0.00741
|
NM_003465.3(CHIT1):c.56-8C>T
|
rs116389839
|
0.00696
|
NM_003465.3(CHIT1):c.1350C>T (p.Cys450=)
|
rs73066396
|
0.00675
|
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=)
|
rs73066400
|
0.00427
|
NM_003465.3(CHIT1):c.780G>A (p.Leu260=)
|
rs145366738
|
0.00397
|
NM_003465.3(CHIT1):c.759G>A (p.Lys253=)
|
rs138767766
|
0.00396
|
NM_003465.3(CHIT1):c.422A>C (p.Tyr141Ser)
|
rs183706407
|
0.00386
|
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys)
|
rs137852607
|
0.00342
|
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=)
|
rs114168492
|
0.00272
|
NM_003465.3(CHIT1):c.258-6T>C
|
rs184235051
|
0.00223
|
NM_003465.3(CHIT1):c.26-15C>T
|
rs201870197
|
0.00180
|
NM_003465.3(CHIT1):c.1033A>G (p.Ser345Gly)
|
rs137954453
|
0.00126
|
NM_003465.3(CHIT1):c.729+5G>A
|
rs146112390
|
0.00123
|
NM_003465.3(CHIT1):c.915A>G (p.Glu305=)
|
rs148451620
|
0.00121
|
NM_003465.3(CHIT1):c.206C>T (p.Thr69Ile)
|
rs141978567
|
0.00096
|
NM_003465.3(CHIT1):c.447C>T (p.Ala149=)
|
rs139891908
|
0.00094
|
NM_003465.3(CHIT1):c.*743C>G
|
rs541251343
|
0.00093
|
NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser)
|
rs141079733
|
0.00082
|
NM_003465.3(CHIT1):c.89A>G (p.Asn30Ser)
|
rs146692911
|
0.00081
|
NM_003465.2(CHIT1):c.-77C>T
|
rs375445198
|
0.00080
|
NM_003465.3(CHIT1):c.1044G>T (p.Lys348Asn)
|
rs140228721
|
0.00054
|
NM_003465.3(CHIT1):c.513G>T (p.Gln171His)
|
rs12562058
|
0.00053
|
NM_003465.3(CHIT1):c.200G>T (p.Ser67Ile)
|
rs555489365
|
0.00050
|
NM_003465.3(CHIT1):c.*782C>T
|
rs192633567
|
0.00047
|
NM_003465.3(CHIT1):c.605+10A>T
|
rs368307246
|
0.00039
|
NM_003465.3(CHIT1):c.*124A>C
|
rs761217387
|
0.00033
|
NM_003465.3(CHIT1):c.1156+4A>G
|
rs2297947
|
0.00029
|
NM_003465.3(CHIT1):c.765C>A (p.Thr255=)
|
rs143518872
|
0.00025
|
NM_003465.3(CHIT1):c.*85G>A
|
rs78739067
|
0.00024
|
NM_003465.3(CHIT1):c.445G>T (p.Ala149Ser)
|
rs117678693
|
0.00024
|
NM_003465.3(CHIT1):c.314+1G>T
|
rs201510066
|
0.00023
|
NM_003465.3(CHIT1):c.1145G>A (p.Arg382Gln)
|
rs139939985
|
0.00022
|
NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser)
|
rs151004649
|
0.00019
|
NM_003465.3(CHIT1):c.55G>A (p.Gly19Ser)
|
rs201347216
|
0.00019
|
NM_003465.3(CHIT1):c.56-6G>A
|
rs190551025
|
0.00019
|
NM_003465.3(CHIT1):c.369C>T (p.Ala123=)
|
rs188371763
|
0.00018
|
NM_003465.3(CHIT1):c.480+12C>T
|
rs201180236
|
0.00017
|
NM_003465.3(CHIT1):c.461G>A (p.Arg154His)
|
rs568595374
|
0.00016
|
NM_003465.3(CHIT1):c.1139C>T (p.Thr380Met)
|
rs374021722
|
0.00014
|
NM_003465.3(CHIT1):c.988C>G (p.Gln330Glu)
|
rs372939622
|
0.00013
|
NM_003465.3(CHIT1):c.-13G>A
|
rs370076959
|
0.00011
|
NM_003465.3(CHIT1):c.1326G>A (p.Ala442=)
|
rs186594769
|
0.00011
|
NM_003465.3(CHIT1):c.1265G>A (p.Gly422Asp)
|
rs144422918
|
0.00010
|
NM_003465.3(CHIT1):c.400G>A (p.Gly134Ser)
|
rs374580719
|
0.00010
|
NM_003465.3(CHIT1):c.984C>T (p.Asp328=)
|
rs2275533
|
0.00009
|
NM_003465.3(CHIT1):c.1294C>T (p.Arg432Trp)
|
rs199572557
|
0.00008
|
NM_003465.3(CHIT1):c.169G>A (p.Ala57Thr)
|
rs200630872
|
0.00008
|
NM_003465.3(CHIT1):c.366G>A (p.Ser122=)
|
rs367910344
|
0.00007
|
NM_003465.3(CHIT1):c.549G>A (p.Ala183=)
|
rs371464440
|
0.00007
|
NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln)
|
rs202003206
|
0.00006
|
NM_003465.3(CHIT1):c.382C>T (p.Arg128Cys)
|
rs377403883
|
0.00006
|
NM_003465.3(CHIT1):c.346C>T (p.Arg116Cys)
|
rs780332677
|
0.00005
|
NM_003465.2(CHIT1):c.-40G>A
|
rs375531046
|
0.00004
|
NM_003465.3(CHIT1):c.1059C>T (p.Gly353=)
|
rs147080247
|
0.00004
|
NM_003465.3(CHIT1):c.1309T>C (p.Phe437Leu)
|
rs769451842
|
0.00004
|
NM_003465.3(CHIT1):c.243T>G (p.Asn81Lys)
|
rs768505099
|
0.00004
|
NM_003465.3(CHIT1):c.26-4C>A
|
rs753899130
|
0.00004
|
NM_003465.3(CHIT1):c.460C>T (p.Arg154Cys)
|
rs142999142
|
0.00004
|
NM_003465.3(CHIT1):c.548C>T (p.Ala183Val)
|
rs377276949
|
0.00004
|
NM_003465.3(CHIT1):c.*403G>A
|
rs1441690560
|
0.00003
|
NM_003465.3(CHIT1):c.1099G>A (p.Gly367Ser)
|
rs752379824
|
0.00003
|
NM_003465.3(CHIT1):c.1352C>G (p.Pro451Arg)
|
rs200995061
|
0.00003
|
NM_003465.3(CHIT1):c.335C>T (p.Thr112Met)
|
rs370359172
|
0.00003
|
NM_003465.3(CHIT1):c.52T>C (p.Trp18Arg)
|
rs886045833
|
0.00003
|
NM_003465.3(CHIT1):c.767C>T (p.Pro256Leu)
|
rs182143561
|
0.00003
|
NM_003465.3(CHIT1):c.838A>T (p.Arg280Ter)
|
rs745573331
|
0.00003
|
NM_003465.3(CHIT1):c.*143A>G
|
rs368913199
|
0.00002
|
NM_003465.3(CHIT1):c.263C>G (p.Pro88Arg)
|
rs780037348
|
0.00002
|
NM_003465.3(CHIT1):c.314+14G>A
|
rs773126401
|
0.00002
|
NM_003465.3(CHIT1):c.678C>A (p.Ser226Arg)
|
rs193156676
|
0.00002
|
NM_003465.3(CHIT1):c.702G>T (p.Glu234Asp)
|
rs199819924
|
0.00002
|
NM_003465.2(CHIT1):c.-54G>A
|
rs772846697
|
0.00001
|
NM_003465.3(CHIT1):c.*599C>G
|
rs376701295
|
0.00001
|
NM_003465.3(CHIT1):c.*754A>C
|
rs1236089253
|
0.00001
|
NM_003465.3(CHIT1):c.*99G>A
|
rs770846687
|
0.00001
|
NM_003465.3(CHIT1):c.107_108del (p.Gln36fs)
|
rs756858939
|
0.00001
|
NM_003465.3(CHIT1):c.178G>A (p.Gly60Ser)
|
rs374115648
|
0.00001
|
NM_003465.3(CHIT1):c.25+7C>T
|
rs757187427
|
0.00001
|
NM_003465.3(CHIT1):c.258-11G>A
|
rs369336966
|
0.00001
|
NM_003465.3(CHIT1):c.365C>T (p.Ser122Leu)
|
rs757305430
|
0.00001
|
NM_003465.3(CHIT1):c.480+17C>T
|
rs773980064
|
0.00001
|
NM_003465.3(CHIT1):c.726C>T (p.Asn242=)
|
rs368107800
|
0.00001
|
NM_003465.3(CHIT1):c.*238C>T
|
rs1656539475
|
|
NM_003465.3(CHIT1):c.*280G>C
|
rs140728916
|
|
NM_003465.3(CHIT1):c.*450G>A
|
rs1369299780
|
|
NM_003465.3(CHIT1):c.*57C>T
|
rs886045831
|
|
NM_003465.3(CHIT1):c.*729T>C
|
rs886045830
|
|
NM_003465.3(CHIT1):c.105A>T (p.Arg35Ser)
|
|
|
NM_003465.3(CHIT1):c.1073G>A (p.Trp358Ter)
|
rs201320385
|
|
NM_003465.3(CHIT1):c.1076C>G (p.Ala359Gly)
|
rs201682373
|
|
NM_003465.3(CHIT1):c.1090G>A (p.Asp364Asn)
|
rs770731880
|
|
NM_003465.3(CHIT1):c.1098C>T (p.Ala366=)
|
|
|
NM_003465.3(CHIT1):c.1121G>T (p.Arg374Leu)
|
rs750793447
|
|
NM_003465.3(CHIT1):c.1126C>T (p.Pro376Ser)
|
|
|
NM_003465.3(CHIT1):c.1144C>T (p.Arg382Trp)
|
|
|
NM_003465.3(CHIT1):c.1155_1156+2del
|
rs143439055
|
|
NM_003465.3(CHIT1):c.1191T>C (p.Leu397=)
|
|
|
NM_003465.3(CHIT1):c.1281C>G (p.Leu427=)
|
rs886045832
|
|
NM_003465.3(CHIT1):c.1325C>A (p.Ala442Glu)
|
rs1065761
|
|
NM_003465.3(CHIT1):c.1325C>G (p.Ala442Gly)
|
rs1065761
|
|
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val)
|
rs1065761
|
|
NM_003465.3(CHIT1):c.1344A>G (p.Gln448=)
|
|
|
NM_003465.3(CHIT1):c.1356A>G (p.Thr452=)
|
rs759297490
|
|
NM_003465.3(CHIT1):c.1358G>T (p.Gly453Val)
|
rs371328957
|
|
NM_003465.3(CHIT1):c.164T>A (p.Ile55Asn)
|
|
|
NM_003465.3(CHIT1):c.168C>T (p.Tyr56=)
|
|
|
NM_003465.3(CHIT1):c.175G>A (p.Ala59Thr)
|
|
|
NM_003465.3(CHIT1):c.181A>G (p.Met61Val)
|
|
|
NM_003465.3(CHIT1):c.189C>A (p.Asn63Lys)
|
rs569180795
|
|
NM_003465.3(CHIT1):c.219C>T (p.Asp73=)
|
|
|
NM_003465.3(CHIT1):c.231C>T (p.Tyr77=)
|
rs1170791356
|
|
NM_003465.3(CHIT1):c.25+11G>A
|
|
|
NM_003465.3(CHIT1):c.25+8G>A
|
|
|
NM_003465.3(CHIT1):c.25+8G>T
|
|
|
NM_003465.3(CHIT1):c.258-3C>T
|
|
|
NM_003465.3(CHIT1):c.288C>T (p.Ile96=)
|
|
|
NM_003465.3(CHIT1):c.289G>A (p.Gly97Arg)
|
|
|
NM_003465.3(CHIT1):c.303C>T (p.Phe101=)
|
|
|
NM_003465.3(CHIT1):c.31A>G (p.Met11Val)
|
|
|
NM_003465.3(CHIT1):c.383G>A (p.Arg128His)
|
rs772756608
|
|
NM_003465.3(CHIT1):c.421T>A (p.Tyr141Asn)
|
rs749852330
|
|
NM_003465.3(CHIT1):c.435G>C (p.Gln145His)
|
|
|
NM_003465.3(CHIT1):c.480+13G>A
|
rs761503836
|
|
NM_003465.3(CHIT1):c.481-15G>A
|
|
|
NM_003465.3(CHIT1):c.481-6C>A
|
|
|
NM_003465.3(CHIT1):c.483C>G (p.Asp161Glu)
|
|
|
NM_003465.3(CHIT1):c.493G>A (p.Ala165Thr)
|
|
|
NM_003465.3(CHIT1):c.501G>A (p.Gln167=)
|
|
|
NM_003465.3(CHIT1):c.510C>G (p.Ala170=)
|
|
|
NM_003465.3(CHIT1):c.529C>T (p.Arg177Cys)
|
rs200777680
|
|
NM_003465.3(CHIT1):c.543T>G (p.Ser181Arg)
|
|
|
NM_003465.3(CHIT1):c.55+20G>T
|
|
|
NM_003465.3(CHIT1):c.56-9A>G
|
|
|
NM_003465.3(CHIT1):c.578C>G (p.Ala193Gly)
|
|
|
NM_003465.3(CHIT1):c.605+1G>A
|
rs1558161210
|
|
NM_003465.3(CHIT1):c.631G>A (p.Ala211Thr)
|
|
|
NM_003465.3(CHIT1):c.665C>T (p.Thr222Met)
|
|
|
NM_003465.3(CHIT1):c.69A>T (p.Lys23Asn)
|
|
|
NM_003465.3(CHIT1):c.708T>C (p.Gly236=)
|
|
|
NM_003465.3(CHIT1):c.717C>T (p.Ala239=)
|
|
|
NM_003465.3(CHIT1):c.720C>T (p.Ser240=)
|
|
|
NM_003465.3(CHIT1):c.727G>A (p.Val243Met)
|
|
|
NM_003465.3(CHIT1):c.739G>A (p.Val247Met)
|
rs1656669997
|
|
NM_003465.3(CHIT1):c.747G>A (p.Gln249=)
|
rs1403876953
|
|
NM_003465.3(CHIT1):c.769G>T (p.Ala257Ser)
|
|
|
NM_003465.3(CHIT1):c.802G>A (p.Gly268Arg)
|
|
|
NM_003465.3(CHIT1):c.807C>T (p.Arg269=)
|
rs560698644
|
|
NM_003465.3(CHIT1):c.8G>C (p.Arg3Pro)
|
|
|
NM_003465.3(CHIT1):c.900G>A (p.Met300Ile)
|
|
|
NM_003465.3(CHIT1):c.916-9C>G
|
rs1656648423
|
|
NM_003465.3(CHIT1):c.917T>C (p.Val306Ala)
|
|
|
NM_003465.3(CHIT1):c.965_993del (p.Val322fs)
|
rs536102546
|
|
NM_003465.3(CHIT1):c.980G>A (p.Arg327Gln)
|
|
|
NM_003465.3(CHIT1):c.981G>A (p.Arg327=)
|
|
|
NM_003465.3(CHIT1):c.[1060G>A;1155G>A1156+6_1156+9del]
|
|
|