NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)
|
rs4614723
|
0.98884
|
NM_002968.3(SALL1):c.3535-207G>A
|
rs1465338
|
0.50410
|
NM_002968.3(SALL1):c.2574C>T (p.Leu858=)
|
rs1965024
|
0.50381
|
NM_002968.3(SALL1):c.3456C>T (p.His1152=)
|
rs11645288
|
0.19907
|
NM_002968.3(SALL1):c.3534+274G>C
|
rs72789959
|
0.10301
|
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)
|
rs13336129
|
0.06797
|
NM_002968.3(SALL1):c.2343G>C (p.Leu781=)
|
rs60270998
|
0.05087
|
NM_002968.3(SALL1):c.2310C>T (p.Ile770=)
|
rs61740811
|
0.04143
|
NM_002968.3(SALL1):c.76+187C>T
|
rs146391431
|
0.02038
|
NM_002968.3(SALL1):c.2178G>A (p.Arg726=)
|
rs144019351
|
0.01142
|
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)
|
rs74499562
|
0.01024
|
NM_002968.3(SALL1):c.2544A>G (p.Gln848=)
|
rs45459896
|
0.00931
|
NM_002968.3(SALL1):c.3535-152C>G
|
rs114061800
|
0.00855
|
NM_002968.3(SALL1):c.390G>A (p.Pro130=)
|
rs75156807
|
0.00781
|
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)
|
rs61731131
|
0.00636
|
NM_002968.3(SALL1):c.292A>G (p.Met98Val)
|
rs28643388
|
0.00481
|
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)
|
rs139646526
|
0.00316
|
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu)
|
rs146454164
|
0.00290
|
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)
|
rs138635817
|
0.00203
|
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)
|
rs189411650
|
0.00141
|
NM_002968.3(SALL1):c.264C>T (p.Ser88=)
|
rs143501736
|
0.00140
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
NM_002968.3(SALL1):c.478G>A (p.Gly160Ser)
|
rs199760974
|
0.00093
|
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp)
|
rs80248061
|
0.00089
|
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser)
|
rs61731136
|
0.00058
|
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)
|
rs140827311
|
0.00058
|
NM_002968.3(SALL1):c.129C>T (p.His43=)
|
rs368688611
|
0.00049
|
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)
|
rs547153228
|
0.00048
|
NM_002968.3(SALL1):c.2331C>T (p.Asn777=)
|
rs144747142
|
0.00045
|
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=)
|
rs146655918
|
0.00038
|
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn)
|
rs76275412
|
0.00034
|
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg)
|
rs757737676
|
0.00028
|
NM_002968.3(SALL1):c.387C>T (p.Ala129=)
|
rs147647889
|
0.00027
|
NM_002968.3(SALL1):c.676G>A (p.Val226Ile)
|
rs149603480
|
0.00026
|
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)
|
rs148612488
|
0.00024
|
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=)
|
rs142653419
|
0.00023
|
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=)
|
rs140524372
|
0.00023
|
NM_002968.3(SALL1):c.1200G>A (p.Ser400=)
|
rs79302764
|
0.00022
|
NM_002968.3(SALL1):c.1327G>A (p.Asp443Asn)
|
rs374153597
|
0.00022
|
NM_002968.3(SALL1):c.1950C>T (p.Gly650=)
|
rs138705495
|
0.00019
|
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr)
|
rs144782810
|
0.00018
|
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=)
|
rs138153478
|
0.00016
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
NM_002968.3(SALL1):c.3603C>T (p.Gly1201=)
|
rs542678985
|
0.00012
|
NM_002968.3(SALL1):c.361A>G (p.Arg121Gly)
|
rs377440481
|
0.00011
|
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile)
|
rs199701845
|
0.00011
|
NM_002968.3(SALL1):c.2283G>C (p.Pro761=)
|
rs774128799
|
0.00009
|
NM_002968.3(SALL1):c.2373C>A (p.Gly791=)
|
rs377295510
|
0.00009
|
NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val)
|
rs578198178
|
0.00009
|
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=)
|
rs374166565
|
0.00008
|
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=)
|
rs377643763
|
0.00007
|
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=)
|
rs143637930
|
0.00007
|
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met)
|
rs373471563
|
0.00006
|
NM_002968.3(SALL1):c.2223G>A (p.Arg741=)
|
rs1430868205
|
0.00006
|
NM_002968.3(SALL1):c.351C>T (p.Asn117=)
|
rs145806303
|
0.00006
|
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His)
|
rs529030284
|
0.00006
|
NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser)
|
rs140384285
|
0.00005
|
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser)
|
rs754902005
|
0.00005
|
NM_002968.3(SALL1):c.1326C>T (p.Ser442=)
|
rs143605364
|
0.00004
|
NM_002968.3(SALL1):c.1872C>T (p.Ser624=)
|
rs143548629
|
0.00004
|
NM_002968.3(SALL1):c.3021C>G (p.Gly1007=)
|
rs138625168
|
0.00004
|
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)
|
rs776104367
|
0.00004
|
NM_002968.3(SALL1):c.986C>T (p.Thr329Ile)
|
rs886043094
|
0.00004
|
NM_002968.3(SALL1):c.1144A>G (p.Ser382Gly)
|
rs794727269
|
0.00003
|
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met)
|
rs200304033
|
0.00003
|
NM_002968.3(SALL1):c.175C>T (p.Leu59=)
|
rs529187255
|
0.00003
|
NM_002968.3(SALL1):c.219C>T (p.Ile73=)
|
rs774483464
|
0.00003
|
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg)
|
rs376879952
|
0.00003
|
NM_002968.3(SALL1):c.39A>G (p.Gln13=)
|
rs768989589
|
0.00003
|
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)
|
rs756723612
|
0.00003
|
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)
|
rs761053549
|
0.00003
|
NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe)
|
rs780478776
|
0.00002
|
NM_002968.3(SALL1):c.1037C>T (p.Ala346Val)
|
rs779513054
|
0.00001
|
NM_002968.3(SALL1):c.1207C>T (p.Pro403Ser)
|
rs767232639
|
0.00001
|
NM_002968.3(SALL1):c.130G>A (p.Val44Ile)
|
rs373744120
|
0.00001
|
NM_002968.3(SALL1):c.1398C>A (p.Ile466=)
|
rs758330038
|
0.00001
|
NM_002968.3(SALL1):c.1485C>T (p.His495=)
|
rs1279763997
|
0.00001
|
NM_002968.3(SALL1):c.2008T>C (p.Phe670Leu)
|
rs565545750
|
0.00001
|
NM_002968.3(SALL1):c.2069A>G (p.Lys690Arg)
|
rs752288194
|
0.00001
|
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=)
|
rs1015061989
|
0.00001
|
NM_002968.3(SALL1):c.2549G>C (p.Ser850Thr)
|
rs770243923
|
0.00001
|
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr)
|
rs199626036
|
0.00001
|
NM_002968.3(SALL1):c.2825C>A (p.Pro942His)
|
rs751069468
|
0.00001
|
NM_002968.3(SALL1):c.2909T>C (p.Leu970Ser)
|
rs1461765489
|
0.00001
|
NM_002968.3(SALL1):c.3242T>C (p.Leu1081Ser)
|
rs1241832382
|
0.00001
|
NM_002968.3(SALL1):c.3380C>T (p.Pro1127Leu)
|
rs748506953
|
0.00001
|
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)
|
rs1064793257
|
0.00001
|
NM_002968.3(SALL1):c.373A>G (p.Met125Val)
|
rs1017987206
|
0.00001
|
NM_002968.3(SALL1):c.537C>T (p.Leu179=)
|
rs200539812
|
0.00001
|
NM_002968.3(SALL1):c.592G>A (p.Glu198Lys)
|
rs372343403
|
0.00001
|
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg)
|
rs775143619
|
0.00001
|
GRCh37/hg19 16q12.1(chr16:51025932-51360215)x3
|
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
NM_002968.3(SALL1):c.*83GCCCC[1]
|
rs374006676
|
|
NM_002968.3(SALL1):c.*83GCCCC[3]
|
rs374006676
|
|
NM_002968.3(SALL1):c.*920CTT[2]
|
rs527584319
|
|
NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu)
|
rs150467434
|
|
NM_002968.3(SALL1):c.1022T>C (p.Met341Thr)
|
rs1372339294
|
|
NM_002968.3(SALL1):c.1025A>C (p.Asn342Thr)
|
rs886042214
|
|
NM_002968.3(SALL1):c.104G>A (p.Arg35His)
|
rs754846300
|
|
NM_002968.3(SALL1):c.1069G>A (p.Ala357Thr)
|
rs2143447690
|
|
NM_002968.3(SALL1):c.1112C>G (p.Ser371Ter)
|
|
|
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del)
|
rs758101035
|
|
NM_002968.3(SALL1):c.1160C>T (p.Ala387Val)
|
|
|
NM_002968.3(SALL1):c.120G>A (p.Lys40=)
|
|
|
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
|
|
|
NM_002968.3(SALL1):c.1230A>C (p.Gly410=)
|
|
|
NM_002968.3(SALL1):c.1252T>G (p.Ser418Ala)
|
|
|
NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu)
|
rs201203066
|
|
NM_002968.3(SALL1):c.1380_1381del (p.Ser460fs)
|
rs1064796960
|
|
NM_002968.3(SALL1):c.1393C>T (p.Gln465Ter)
|
rs1057518273
|
|
NM_002968.3(SALL1):c.1405C>G (p.Arg469Gly)
|
|
|
NM_002968.3(SALL1):c.1405C>T (p.Arg469Cys)
|
rs1057523061
|
|
NM_002968.3(SALL1):c.1441A>G (p.Ile481Val)
|
rs2143445989
|
|
NM_002968.3(SALL1):c.1510C>A (p.Pro504Thr)
|
rs2143445740
|
|
NM_002968.3(SALL1):c.1663G>T (p.Val555Phe)
|
|
|
NM_002968.3(SALL1):c.1665C>T (p.Val555=)
|
rs201565524
|
|
NM_002968.3(SALL1):c.1732A>G (p.Ile578Val)
|
|
|
NM_002968.3(SALL1):c.1763dup (p.Gly589fs)
|
rs1057518232
|
|
NM_002968.3(SALL1):c.1784C>T (p.Ser595Phe)
|
|
|
NM_002968.3(SALL1):c.1911G>A (p.Ala637=)
|
rs148595195
|
|
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
|
|
|
NM_002968.3(SALL1):c.2070G>C (p.Lys690Asn)
|
|
|
NM_002968.3(SALL1):c.2112C>A (p.Asp704Glu)
|
|
|
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)
|
|
|
NM_002968.3(SALL1):c.2315A>G (p.Gln772Arg)
|
rs2143442043
|
|
NM_002968.3(SALL1):c.2336T>C (p.Val779Ala)
|
rs2143441870
|
|
NM_002968.3(SALL1):c.2409dup (p.Glu804Ter)
|
rs1597229025
|
|
NM_002968.3(SALL1):c.2431G>C (p.Gly811Arg)
|
|
|
NM_002968.3(SALL1):c.2493C>G (p.Asp831Glu)
|
rs1221318740
|
|
NM_002968.3(SALL1):c.2518A>G (p.Thr840Ala)
|
rs2143441117
|
|
NM_002968.3(SALL1):c.253_258del (p.Phe85_Ser86del)
|
rs1438564053
|
|
NM_002968.3(SALL1):c.2573_2574delinsAA (p.Leu858Gln)
|
rs2143440766
|
|
NM_002968.3(SALL1):c.2621A>C (p.Asn874Thr)
|
rs971297683
|
|
NM_002968.3(SALL1):c.26C>G (p.Pro9Arg)
|
|
|
NM_002968.3(SALL1):c.2712_2715del (p.Gly906fs)
|
rs1597228550
|
|
NM_002968.3(SALL1):c.2767A>G (p.Thr923Ala)
|
rs761048130
|
|
NM_002968.3(SALL1):c.2803A>T (p.Thr935Ser)
|
|
|
NM_002968.3(SALL1):c.2983C>G (p.Arg995Gly)
|
|
|
NM_002968.3(SALL1):c.2986G>A (p.Gly996Ser)
|
|
|
NM_002968.3(SALL1):c.3068A>C (p.His1023Pro)
|
rs1962364472
|
|
NM_002968.3(SALL1):c.3099_3105dup (p.Arg1036fs)
|
rs886042011
|
|
NM_002968.3(SALL1):c.3154C>T (p.Gln1052Ter)
|
rs1057518131
|
|
NM_002968.3(SALL1):c.3157A>C (p.Met1053Leu)
|
rs1057523060
|
|
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter)
|
rs864321635
|
|
NM_002968.3(SALL1):c.3173C>G (p.Ser1058Cys)
|
rs2143437983
|
|
NM_002968.3(SALL1):c.3222G>C (p.Ala1074=)
|
rs61731131
|
|
NM_002968.3(SALL1):c.325G>C (p.Asp109His)
|
|
|
NM_002968.3(SALL1):c.3305A>G (p.Asp1102Gly)
|
rs886043770
|
|
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu)
|
rs148931484
|
|
NM_002968.3(SALL1):c.3326C>T (p.Pro1109Leu)
|
rs780221020
|
|
NM_002968.3(SALL1):c.3534+25C>T
|
|
|
NM_002968.3(SALL1):c.3534+40C>G
|
rs7184489
|
|
NM_002968.3(SALL1):c.3535-44CT[6]
|
rs142249003
|
|
NM_002968.3(SALL1):c.3601G>A (p.Gly1201Ser)
|
rs1555474728
|
|
NM_002968.3(SALL1):c.3620G>T (p.Gly1207Val)
|
|
|
NM_002968.3(SALL1):c.3623G>A (p.Gly1208Asp)
|
rs771150548
|
|
NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe)
|
rs377652797
|
|
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
|
|
|
NM_002968.3(SALL1):c.3845T>C (p.Leu1282Pro)
|
|
|
NM_002968.3(SALL1):c.388_391delinsTTTGCTAACAAAGCGGCAGCGGCACTT (p.Pro130fs)
|
rs2143451854
|
|
NM_002968.3(SALL1):c.38A>C (p.Gln13Pro)
|
|
|
NM_002968.3(SALL1):c.3963C>G (p.Ile1321Met)
|
rs200583558
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[16] (p.Ser154_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[6] (p.Ser156_Ser159del)
|
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.463_475delinsG (p.Ser155_Ser159delinsGly)
|
rs2143451190
|
|
NM_002968.3(SALL1):c.469_475delinsG (p.Ser157_Ser159delinsGly)
|
|
|
NM_002968.3(SALL1):c.475_476insAGC (p.Ser159delinsLysArg)
|
rs2143451145
|
|
NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly)
|
rs1555475415
|
|
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
|
rs1555475415
|
|
NM_002968.3(SALL1):c.478GGC[3] (p.Gly163del)
|
|
|
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup)
|
rs1555475414
|
|
NM_002968.3(SALL1):c.480_481insAGC (p.Gly160_Gly161insSer)
|
|
|
NM_002968.3(SALL1):c.534A>C (p.Gln178His)
|
|
|
NM_002968.3(SALL1):c.559A>G (p.Asn187Asp)
|
|
|
NM_002968.3(SALL1):c.565_566dup (p.Val190fs)
|
rs2143450333
|
|
NM_002968.3(SALL1):c.572T>C (p.Ile191Thr)
|
rs1555475381
|
|
NM_002968.3(SALL1):c.633_634del (p.Gln212fs)
|
|
|
NM_002968.3(SALL1):c.652G>A (p.Gly218Arg)
|
|
|
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter)
|
rs1567316325
|
|
NM_002968.3(SALL1):c.718C>T (p.Gln240Ter)
|
|
|
NM_002968.3(SALL1):c.727C>T (p.Gln243Ter)
|
rs886044708
|
|
NM_002968.3(SALL1):c.76+26AC[5]
|
rs200502187
|
|
NM_002968.3(SALL1):c.76+68_76+69del
|
rs1962594158
|
|
NM_002968.3(SALL1):c.77-54G>A
|
rs79146613
|
|
NM_002968.3(SALL1):c.77-91A>G
|
rs59785450
|
|
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter)
|
rs1555475342
|
|
NM_002968.3(SALL1):c.824T>A (p.Leu275Ter)
|
rs1962426127
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)
|
rs886041236
|
|
NM_002968.3(SALL1):c.939G>T (p.Val313=)
|
rs1377611548
|
|
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)
|
rs864621971
|
|