NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
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.3750C>T (p.Asn1250=)
|
rs142653419
|
0.00023
|
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr)
|
rs144782810
|
0.00018
|
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.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
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.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.2947G>C (p.Glu983Gln)
|
rs762072595
|
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.175C>T (p.Leu59=)
|
rs529187255
|
0.00003
|
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe)
|
rs1375814966
|
0.00003
|
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser)
|
rs535981732
|
0.00003
|
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg)
|
rs376879952
|
0.00003
|
NM_002968.3(SALL1):c.3808G>A (p.Gly1270Arg)
|
rs369070446
|
0.00003
|
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg)
|
rs767612617
|
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.2452T>G (p.Phe818Val)
|
rs1297554616
|
0.00002
|
NM_002968.3(SALL1):c.2461C>G (p.Leu821Val)
|
rs766208261
|
0.00002
|
NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe)
|
rs780478776
|
0.00002
|
NM_002968.3(SALL1):c.3947A>G (p.Glu1316Gly)
|
rs375212546
|
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.1778G>A (p.Ser593Asn)
|
rs748432190
|
0.00001
|
NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile)
|
rs768794489
|
0.00001
|
NM_002968.3(SALL1):c.2069A>G (p.Lys690Arg)
|
rs752288194
|
0.00001
|
NM_002968.3(SALL1):c.220G>A (p.Val74Ile)
|
rs529479120
|
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.2957T>C (p.Leu986Ser)
|
rs764408117
|
0.00001
|
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val)
|
rs1238657472
|
0.00001
|
NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp)
|
rs1352323090
|
0.00001
|
NM_002968.3(SALL1):c.373A>G (p.Met125Val)
|
rs1017987206
|
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.*1033dup
|
rs551604859
|
|
NM_002968.3(SALL1):c.*563del
|
rs886052078
|
|
NM_002968.3(SALL1):c.*705_*706del
|
rs886052076
|
|
NM_002968.3(SALL1):c.*920CTT[2]
|
rs527584319
|
|
NM_002968.3(SALL1):c.1007G>C (p.Gly336Ala)
|
rs771174750
|
|
NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu)
|
rs150467434
|
|
NM_002968.3(SALL1):c.1025A>C (p.Asn342Thr)
|
rs886042214
|
|
NM_002968.3(SALL1):c.1027A>G (p.Ile343Val)
|
|
|
NM_002968.3(SALL1):c.104G>A (p.Arg35His)
|
rs754846300
|
|
NM_002968.3(SALL1):c.104G>T (p.Arg35Leu)
|
|
|
NM_002968.3(SALL1):c.1069G>A (p.Ala357Thr)
|
rs2143447690
|
|
NM_002968.3(SALL1):c.109A>T (p.Thr37Ser)
|
|
|
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del)
|
rs758101035
|
|
NM_002968.3(SALL1):c.1160C>T (p.Ala387Val)
|
|
|
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
|
|
|
NM_002968.3(SALL1):c.1217T>C (p.Leu406Ser)
|
|
|
NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala)
|
|
|
NM_002968.3(SALL1):c.1252T>G (p.Ser418Ala)
|
|
|
NM_002968.3(SALL1):c.1257G>T (p.Leu419Phe)
|
|
|
NM_002968.3(SALL1):c.1301C>T (p.Thr434Ile)
|
rs2143446657
|
|
NM_002968.3(SALL1):c.1306T>G (p.Phe436Val)
|
|
|
NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu)
|
rs201203066
|
|
NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu)
|
|
|
NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly)
|
|
|
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.1458C>G (p.Phe486Leu)
|
|
|
NM_002968.3(SALL1):c.1510C>A (p.Pro504Thr)
|
rs2143445740
|
|
NM_002968.3(SALL1):c.1514A>G (p.His505Arg)
|
rs776094507
|
|
NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser)
|
|
|
NM_002968.3(SALL1):c.1568G>A (p.Ser523Asn)
|
|
|
NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys)
|
|
|
NM_002968.3(SALL1):c.1589T>G (p.Met530Arg)
|
|
|
NM_002968.3(SALL1):c.1610C>G (p.Pro537Arg)
|
|
|
NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala)
|
|
|
NM_002968.3(SALL1):c.1663G>T (p.Val555Phe)
|
|
|
NM_002968.3(SALL1):c.1665C>T (p.Val555=)
|
rs201565524
|
|
NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)
|
|
|
NM_002968.3(SALL1):c.1732A>G (p.Ile578Val)
|
|
|
NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile)
|
|
|
NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr)
|
rs2143444614
|
|
NM_002968.3(SALL1):c.1762C>T (p.Pro588Ser)
|
rs771371721
|
|
NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln)
|
|
|
NM_002968.3(SALL1):c.1771G>A (p.Val591Ile)
|
|
|
NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg)
|
rs2143444520
|
|
NM_002968.3(SALL1):c.1784C>T (p.Ser595Phe)
|
|
|
NM_002968.3(SALL1):c.1807A>G (p.Arg603Gly)
|
|
|
NM_002968.3(SALL1):c.1837G>A (p.Glu613Lys)
|
|
|
NM_002968.3(SALL1):c.1867A>G (p.Lys623Glu)
|
|
|
NM_002968.3(SALL1):c.1921G>A (p.Val641Ile)
|
|
|
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
|
|
|
NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr)
|
|
|
NM_002968.3(SALL1):c.1955C>T (p.Ala652Val)
|
|
|
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)
|
|
|
NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg)
|
|
|
NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser)
|
|
|
NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala)
|
|
|
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)
|
rs1597229404
|
|
NM_002968.3(SALL1):c.2070G>C (p.Lys690Asn)
|
|
|
NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr)
|
|
|
NM_002968.3(SALL1):c.2112C>A (p.Asp704Glu)
|
|
|
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)
|
|
|
NM_002968.3(SALL1):c.211G>C (p.Val71Leu)
|
|
|
NM_002968.3(SALL1):c.2130C>G (p.Ile710Met)
|
|
|
NM_002968.3(SALL1):c.2170C>T (p.His724Tyr)
|
|
|
NM_002968.3(SALL1):c.2186C>A (p.Thr729Asn)
|
|
|
NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys)
|
|
|
NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg)
|
|
|
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
|
|
|
NM_002968.3(SALL1):c.2273C>A (p.Ala758Asp)
|
|
|
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.2360T>C (p.Met787Thr)
|
|
|
NM_002968.3(SALL1):c.2393T>G (p.Val798Gly)
|
|
|
NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr)
|
|
|
NM_002968.3(SALL1):c.2416A>G (p.Met806Val)
|
|
|
NM_002968.3(SALL1):c.2431G>C (p.Gly811Arg)
|
|
|
NM_002968.3(SALL1):c.2493C>G (p.Asp831Glu)
|
rs1221318740
|
|
NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp)
|
|
|
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.2555C>G (p.Ser852Cys)
|
|
|
NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser)
|
|
|
NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu)
|
|
|
NM_002968.3(SALL1):c.2605C>G (p.Gln869Glu)
|
|
|
NM_002968.3(SALL1):c.2621A>C (p.Asn874Thr)
|
rs971297683
|
|
NM_002968.3(SALL1):c.2627G>A (p.Gly876Asp)
|
|
|
NM_002968.3(SALL1):c.2633C>A (p.Ala878Glu)
|
|
|
NM_002968.3(SALL1):c.2638C>G (p.Gln880Glu)
|
|
|
NM_002968.3(SALL1):c.268C>T (p.Pro90Ser)
|
rs749198993
|
|
NM_002968.3(SALL1):c.26C>G (p.Pro9Arg)
|
|
|
NM_002968.3(SALL1):c.2767A>G (p.Thr923Ala)
|
rs761048130
|
|
NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg)
|
|
|
NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly)
|
|
|
NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg)
|
rs889576974
|
|
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val)
|
rs766899404
|
|
NM_002968.3(SALL1):c.2862C>T (p.Ser954=)
|
|
|
NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys)
|
|
|
NM_002968.3(SALL1):c.2873A>G (p.Asn958Ser)
|
|
|
NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe)
|
|
|
NM_002968.3(SALL1):c.2923A>G (p.Ser975Gly)
|
|
|
NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr)
|
|
|
NM_002968.3(SALL1):c.2941A>G (p.Ile981Val)
|
|
|
NM_002968.3(SALL1):c.2968T>C (p.Phe990Leu)
|
|
|
NM_002968.3(SALL1):c.2983C>G (p.Arg995Gly)
|
|
|
NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys)
|
|
|
NM_002968.3(SALL1):c.3005C>T (p.Ala1002Val)
|
|
|
NM_002968.3(SALL1):c.3068A>C (p.His1023Pro)
|
rs1962364472
|
|
NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile)
|
|
|
NM_002968.3(SALL1):c.3157A>C (p.Met1053Leu)
|
rs1057523060
|
|
NM_002968.3(SALL1):c.3173C>G (p.Ser1058Cys)
|
rs2143437983
|
|
NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser)
|
|
|
NM_002968.3(SALL1):c.3222G>C (p.Ala1074=)
|
rs61731131
|
|
NM_002968.3(SALL1):c.3239C>T (p.Ser1080Leu)
|
rs144225643
|
|
NM_002968.3(SALL1):c.3245C>T (p.Ser1082Leu)
|
|
|
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.3322G>T (p.Val1108Phe)
|
rs148931484
|
|
NM_002968.3(SALL1):c.3338T>C (p.Leu1113Pro)
|
|
|
NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe)
|
|
|
NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser)
|
|
|
NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu)
|
|
|
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln)
|
rs1030315086
|
|
NM_002968.3(SALL1):c.3601G>A (p.Gly1201Ser)
|
rs1555474728
|
|
NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro)
|
|
|
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.3648G>A (p.Met1216Ile)
|
|
|
NM_002968.3(SALL1):c.3658G>A (p.Asp1220Asn)
|
|
|
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
|
|
|
NM_002968.3(SALL1):c.368A>G (p.Glu123Gly)
|
|
|
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)
|
|
|
NM_002968.3(SALL1):c.3737C>T (p.Ala1246Val)
|
|
|
NM_002968.3(SALL1):c.3781C>T (p.Pro1261Ser)
|
|
|
NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu)
|
rs376879952
|
|
NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)
|
rs1962322854
|
|
NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser)
|
|
|
NM_002968.3(SALL1):c.3832C>G (p.Leu1278Val)
|
|
|
NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys)
|
rs1962320266
|
|
NM_002968.3(SALL1):c.3845T>C (p.Leu1282Pro)
|
|
|
NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys)
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rs1962320101
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NM_002968.3(SALL1):c.3868C>T (p.Pro1290Ser)
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NM_002968.3(SALL1):c.3875C>A (p.Ala1292Asp)
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NM_002968.3(SALL1):c.388C>G (p.Pro130Ala)
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NM_002968.3(SALL1):c.38A>C (p.Gln13Pro)
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NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys)
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NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys)
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NM_002968.3(SALL1):c.406G>A (p.Gly136Ser)
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NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr)
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NM_002968.3(SALL1):c.424G>A (p.Gly142Ser)
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rs553871743
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NM_002968.3(SALL1):c.424G>C (p.Gly142Arg)
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rs553871743
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NM_002968.3(SALL1):c.429C>G (p.Ser143Arg)
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NM_002968.3(SALL1):c.43G>A (p.Asp15Asn)
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rs886052085
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NM_002968.3(SALL1):c.442G>A (p.Ala148Thr)
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NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)
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rs113614842
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NM_002968.3(SALL1):c.448AGC[16] (p.Ser154_Ser159dup)
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rs113614842
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NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
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rs113614842
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NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
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rs113614842
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NM_002968.3(SALL1):c.44A>C (p.Asp15Ala)
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rs77265655
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NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del)
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NM_002968.3(SALL1):c.463_475delinsG (p.Ser155_Ser159delinsGly)
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rs2143451190
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NM_002968.3(SALL1):c.469_475delinsG (p.Ser157_Ser159delinsGly)
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NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr)
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NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly)
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rs1555475415
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NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
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rs1555475415
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NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup)
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rs1555475414
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NM_002968.3(SALL1):c.480_481insAGC (p.Gly160_Gly161insSer)
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NM_002968.3(SALL1):c.481G>A (p.Gly161Ser)
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NM_002968.3(SALL1):c.494C>T (p.Ser165Phe)
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rs773094147
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NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)
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NM_002968.3(SALL1):c.534A>C (p.Gln178His)
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NM_002968.3(SALL1):c.548C>A (p.Thr183Lys)
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rs1417997778
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NM_002968.3(SALL1):c.559A>G (p.Asn187Asp)
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NM_002968.3(SALL1):c.560A>C (p.Asn187Thr)
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NM_002968.3(SALL1):c.572T>C (p.Ile191Thr)
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rs1555475381
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NM_002968.3(SALL1):c.61C>A (p.Leu21Ile)
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NM_002968.3(SALL1):c.630C>A (p.Phe210Leu)
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NM_002968.3(SALL1):c.652G>A (p.Gly218Arg)
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NM_002968.3(SALL1):c.71G>T (p.Arg24Leu)
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NM_002968.3(SALL1):c.721A>G (p.Ile241Val)
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rs2143449563
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NM_002968.3(SALL1):c.787G>T (p.Asp263Tyr)
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NM_002968.3(SALL1):c.827G>C (p.Arg276Pro)
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NM_002968.3(SALL1):c.833C>T (p.Ser278Phe)
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NM_002968.3(SALL1):c.839A>G (p.Asn280Ser)
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NM_002968.3(SALL1):c.868T>C (p.Ser290Pro)
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NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)
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rs864621971
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NM_002968.3(SALL1):c.972C>A (p.Ser324Arg)
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NM_002968.3(SALL1):c.974G>T (p.Ser325Ile)
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NM_002968.3(SALL1):c.983A>G (p.Asn328Ser)
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