NM_020436.5(SALL4):c.540T>C (p.Asn180=)
|
rs6013281
|
0.99661
|
NM_020436.5(SALL4):c.1860A>G (p.Thr620=)
|
rs6021437
|
0.31314
|
NM_020436.5(SALL4):c.1056G>A (p.Ala352=)
|
rs13038893
|
0.29998
|
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)
|
rs6126344
|
0.29053
|
NM_020436.5(SALL4):c.2640G>C (p.Ser880=)
|
rs17802735
|
0.09099
|
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu)
|
rs6091375
|
0.08032
|
NM_020436.5(SALL4):c.2037C>T (p.Thr679=)
|
rs13043248
|
0.07305
|
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro)
|
rs61737142
|
0.02370
|
NM_020436.5(SALL4):c.645C>G (p.Leu215=)
|
rs61737139
|
0.02226
|
NM_020436.5(SALL4):c.2130G>A (p.Thr710=)
|
rs61737143
|
0.01764
|
NM_020436.5(SALL4):c.408T>C (p.Asn136=)
|
rs76870996
|
0.01190
|
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)
|
rs41274696
|
0.00290
|
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro)
|
rs150549656
|
0.00245
|
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)
|
rs147158259
|
0.00206
|
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser)
|
rs139022152
|
0.00200
|
NM_020436.5(SALL4):c.2376T>C (p.Asn792=)
|
rs143601538
|
0.00146
|
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr)
|
rs145275500
|
0.00146
|
NM_020436.5(SALL4):c.1557C>T (p.Pro519=)
|
rs75554760
|
0.00124
|
NM_020436.5(SALL4):c.1950C>T (p.Gly650=)
|
rs149008635
|
0.00121
|
NM_020436.5(SALL4):c.1353C>T (p.Ala451=)
|
rs140110863
|
0.00120
|
NM_020436.5(SALL4):c.2166A>G (p.Leu722=)
|
rs141708963
|
0.00110
|
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)
|
rs143818932
|
0.00106
|
NM_020436.5(SALL4):c.1497G>T (p.Thr499=)
|
rs148435082
|
0.00096
|
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg)
|
rs77538589
|
0.00073
|
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr)
|
rs147385529
|
0.00056
|
NM_020436.5(SALL4):c.541G>A (p.Val181Met)
|
rs139382539
|
0.00052
|
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala)
|
rs149359253
|
0.00044
|
NM_020436.5(SALL4):c.2268C>T (p.Ser756=)
|
rs145078336
|
0.00044
|
NM_020436.5(SALL4):c.2493A>G (p.Arg831=)
|
rs79909922
|
0.00043
|
NM_020436.5(SALL4):c.2649C>T (p.Ser883=)
|
rs772770482
|
0.00043
|
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met)
|
rs147195029
|
0.00041
|
NM_020436.5(SALL4):c.24A>G (p.Lys8=)
|
rs149430070
|
0.00039
|
NM_020436.5(SALL4):c.2835C>T (p.Asp945=)
|
rs143702441
|
0.00033
|
NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu)
|
rs139485493
|
0.00031
|
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)
|
rs150402866
|
0.00031
|
NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser)
|
rs76648342
|
0.00030
|
NM_020436.5(SALL4):c.702G>A (p.Gln234=)
|
rs146143890
|
0.00028
|
NM_020436.5(SALL4):c.1358A>G (p.Asn453Ser)
|
rs146644204
|
0.00026
|
NM_020436.5(SALL4):c.2664C>T (p.His888=)
|
rs11698418
|
0.00024
|
NM_020436.5(SALL4):c.1113C>G (p.Val371=)
|
rs77810153
|
0.00023
|
NM_020436.5(SALL4):c.2260G>A (p.Val754Met)
|
rs199607966
|
0.00023
|
NM_020436.5(SALL4):c.447G>A (p.Ala149=)
|
rs147838161
|
0.00021
|
NM_020436.5(SALL4):c.3096T>C (p.Ala1032=)
|
rs370319434
|
0.00018
|
NM_020436.5(SALL4):c.1020C>T (p.Gly340=)
|
rs142790611
|
0.00011
|
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met)
|
rs146604877
|
0.00011
|
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu)
|
rs149863527
|
0.00008
|
NM_020436.5(SALL4):c.696C>T (p.Thr232=)
|
rs376488018
|
0.00007
|
NM_020436.5(SALL4):c.2028C>T (p.Asn676=)
|
rs755057820
|
0.00006
|
NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser)
|
rs549741547
|
0.00006
|
NM_020436.5(SALL4):c.262C>T (p.Leu88=)
|
rs755362179
|
0.00006
|
NM_020436.5(SALL4):c.2913G>A (p.Gln971=)
|
rs773001598
|
0.00006
|
NM_020436.5(SALL4):c.318C>T (p.Ser106=)
|
rs371144604
|
0.00006
|
NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn)
|
rs757430438
|
0.00004
|
NM_020436.5(SALL4):c.202C>T (p.Arg68Trp)
|
rs202087308
|
0.00004
|
NM_020436.5(SALL4):c.203G>A (p.Arg68Gln)
|
rs773046204
|
0.00004
|
NM_020436.5(SALL4):c.2385C>T (p.Ala795=)
|
rs142446452
|
0.00004
|
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly)
|
rs373111608
|
0.00004
|
NM_020436.5(SALL4):c.594G>A (p.Ala198=)
|
rs377028033
|
0.00004
|
NM_020436.5(SALL4):c.216C>T (p.His72=)
|
rs138604469
|
0.00003
|
NM_020436.5(SALL4):c.2447G>A (p.Arg816His)
|
rs747560279
|
0.00003
|
NM_020436.5(SALL4):c.2462-12T>C
|
rs770440198
|
0.00003
|
NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala)
|
rs943513953
|
0.00003
|
NM_020436.5(SALL4):c.3153G>A (p.Ala1051=)
|
rs142551587
|
0.00003
|
NM_020436.5(SALL4):c.42G>C (p.Ser14=)
|
rs137903141
|
0.00003
|
NM_020436.5(SALL4):c.766A>G (p.Thr256Ala)
|
rs139802240
|
0.00003
|
NM_020436.5(SALL4):c.1005T>C (p.Leu335=)
|
rs150350828
|
0.00001
|
NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn)
|
rs1010416849
|
0.00001
|
NM_020436.5(SALL4):c.130+6dup
|
rs750625183
|
0.00001
|
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met)
|
rs769115027
|
0.00001
|
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg)
|
rs113920122
|
0.00001
|
NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu)
|
rs746614693
|
0.00001
|
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn)
|
rs780276827
|
0.00001
|
NM_020436.5(SALL4):c.536C>G (p.Thr179Ser)
|
rs201303046
|
0.00001
|
NM_020436.5(SALL4):c.609C>A (p.Ala203=)
|
rs200416079
|
0.00001
|
NM_020436.5(SALL4):c.732C>T (p.Ser244=)
|
rs567647391
|
0.00001
|
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1
|
|
|
NC_000020.10:g.(?_50400804)_(50401243_?)del
|
|
|
NC_000020.10:g.(?_50400804)_(50418947_?)del
|
|
|
NC_000020.11:g.(?_51802259)_(51802428_?)del
|
|
|
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
|
|
|
NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)
|
|
|
NM_020436.5(SALL4):c.1054del (p.Ala352fs)
|
rs1601170510
|
|
NM_020436.5(SALL4):c.1068del (p.Lys357fs)
|
rs2122964551
|
|
NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr)
|
|
|
NM_020436.5(SALL4):c.1092G>A (p.Pro364=)
|
|
|
NM_020436.5(SALL4):c.1107G>A (p.Val369=)
|
|
|
NM_020436.5(SALL4):c.1125C>T (p.Asp375=)
|
|
|
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)
|
|
|
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)
|
|
|
NM_020436.5(SALL4):c.1209C>T (p.Ser403=)
|
|
|
NM_020436.5(SALL4):c.122G>A (p.Gly41Glu)
|
|
|
NM_020436.5(SALL4):c.1232del (p.Val411fs)
|
rs1568864697
|
|
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)
|
|
|
NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg)
|
|
|
NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro)
|
|
|
NM_020436.5(SALL4):c.131-2A>G
|
rs2122967143
|
|
NM_020436.5(SALL4):c.131-2del
|
rs1568866374
|
|
NM_020436.5(SALL4):c.1314C>T (p.Asn438=)
|
|
|
NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys)
|
|
|
NM_020436.5(SALL4):c.1358A>T (p.Asn453Ile)
|
|
|
NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg)
|
rs2078036143
|
|
NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter)
|
|
|
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)
|
|
|
NM_020436.5(SALL4):c.1476G>C (p.Gly492=)
|
rs1428240079
|
|
NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro)
|
|
|
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
|
|
|
NM_020436.5(SALL4):c.159C>T (p.Asp53=)
|
|
|
NM_020436.5(SALL4):c.1625del (p.Pro542fs)
|
|
|
NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp)
|
|
|
NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter)
|
rs2122963183
|
|
NM_020436.5(SALL4):c.1660T>C (p.Leu554=)
|
|
|
NM_020436.5(SALL4):c.1671C>T (p.Asn557=)
|
|
|
NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del)
|
|
|
NM_020436.5(SALL4):c.1698C>T (p.Asn566=)
|
|
|
NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter)
|
rs2078032400
|
|
NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln)
|
|
|
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)
|
|
|
NM_020436.5(SALL4):c.1770G>A (p.Gly590=)
|
|
|
NM_020436.5(SALL4):c.1779G>T (p.Pro593=)
|
rs147254025
|
|
NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg)
|
rs2122962845
|
|
NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter)
|
rs2078031226
|
|
NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro)
|
rs1415936268
|
|
NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter)
|
rs74315427
|
|
NM_020436.5(SALL4):c.1851A>G (p.Arg617=)
|
|
|
NM_020436.5(SALL4):c.1904del (p.Phe635fs)
|
rs1601168967
|
|
NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter)
|
rs74315424
|
|
NM_020436.5(SALL4):c.1959dup (p.Pro654fs)
|
rs2122962507
|
|
NM_020436.5(SALL4):c.1994_1995del (p.Phe665fs)
|
|
|
NM_020436.5(SALL4):c.2049C>G (p.Cys683Trp)
|
|
|
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del)
|
rs557068877
|
|
NM_020436.5(SALL4):c.2065G>A (p.Glu689Lys)
|
|
|
NM_020436.5(SALL4):c.2074G>A (p.Asp692Asn)
|
|
|
NM_020436.5(SALL4):c.2081A>C (p.Glu694Ala)
|
|
|
NM_020436.5(SALL4):c.2114C>G (p.Ser705Cys)
|
|
|
NM_020436.5(SALL4):c.213G>A (p.Thr71=)
|
|
|
NM_020436.5(SALL4):c.2151G>A (p.Ser717=)
|
|
|
NM_020436.5(SALL4):c.2163G>A (p.Thr721=)
|
|
|
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
|
|
|
NM_020436.5(SALL4):c.2234G>A (p.Arg745His)
|
|
|
NM_020436.5(SALL4):c.2252del (p.Asn751fs)
|
|
|
NM_020436.5(SALL4):c.2253C>T (p.Asn751=)
|
|
|
NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala)
|
|
|
NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile)
|
rs755503899
|
|
NM_020436.5(SALL4):c.2280dup (p.Asn761fs)
|
|
|
NM_020436.5(SALL4):c.2352C>A (p.Ser784=)
|
|
|
NM_020436.5(SALL4):c.2370G>A (p.Pro790=)
|
rs570760124
|
|
NM_020436.5(SALL4):c.2373C>T (p.Ala791=)
|
|
|
NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn)
|
rs147768774
|
|
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu)
|
rs2078023413
|
|
NM_020436.5(SALL4):c.2424dup (p.Ala809fs)
|
|
|
NM_020436.5(SALL4):c.2425del (p.Ala809fs)
|
rs1601168015
|
|
NM_020436.5(SALL4):c.2456dup (p.Met819fs)
|
|
|
NM_020436.5(SALL4):c.2462-13C>T
|
rs778354482
|
|
NM_020436.5(SALL4):c.2496C>T (p.Ala832=)
|
|
|
NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu)
|
|
|
NM_020436.5(SALL4):c.250A>G (p.Ile84Val)
|
rs1601172072
|
|
NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys)
|
rs756470912
|
|
NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter)
|
rs74315425
|
|
NM_020436.5(SALL4):c.2607del (p.Gln869fs)
|
rs1601166963
|
|
NM_020436.5(SALL4):c.2640G>A (p.Ser880=)
|
rs17802735
|
|
NM_020436.5(SALL4):c.2663A>G (p.His888Arg)
|
rs74315429
|
|
NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp)
|
rs2078012508
|
|
NM_020436.5(SALL4):c.2673T>C (p.Thr891=)
|
rs779929335
|
|
NM_020436.5(SALL4):c.2704A>G (p.Ile902Val)
|
rs2122959420
|
|
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter)
|
rs74315428
|
|
NM_020436.5(SALL4):c.2742+16C>T
|
|
|
NM_020436.5(SALL4):c.2743-3T>C
|
|
|
NM_020436.5(SALL4):c.2743-5C>T
|
|
|
NM_020436.5(SALL4):c.2765C>T (p.Ala922Val)
|
|
|
NM_020436.5(SALL4):c.2782C>T (p.Arg928Cys)
|
|
|
NM_020436.5(SALL4):c.2816T>G (p.Met939Arg)
|
rs770912668
|
|
NM_020436.5(SALL4):c.2872C>T (p.Leu958=)
|
|
|
NM_020436.5(SALL4):c.2944G>A (p.Val982Met)
|
|
|
NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg)
|
rs138891224
|
|
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg)
|
rs138891224
|
|
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp)
|
rs138891224
|
|
NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg)
|
|
|
NM_020436.5(SALL4):c.2982G>T (p.Gly994=)
|
|
|
NM_020436.5(SALL4):c.2984T>G (p.Val995Gly)
|
rs1601162110
|
|
NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)
|
|
|
NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)
|
|
|
NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)
|
|
|
NM_020436.5(SALL4):c.3058del (p.Gln1020fs)
|
|
|
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
|
|
|
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
|
|
|
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)
|
|
|
NM_020436.5(SALL4):c.31C>T (p.His11Tyr)
|
|
|
NM_020436.5(SALL4):c.326del (p.Pro109fs)
|
rs1601171949
|
|
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
|
|
|
NM_020436.5(SALL4):c.33C>T (p.His11=)
|
|
|
NM_020436.5(SALL4):c.383del (p.Gly128fs)
|
rs2122966358
|
|
NM_020436.5(SALL4):c.39C>T (p.Asn13=)
|
|
|
NM_020436.5(SALL4):c.410dup (p.Gly138fs)
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rs879255537
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NM_020436.5(SALL4):c.411C>G (p.Gly137=)
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rs201560082
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NM_020436.5(SALL4):c.412G>A (p.Gly138Ser)
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NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu)
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NM_020436.5(SALL4):c.432G>A (p.Lys144=)
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NM_020436.5(SALL4):c.474_475del (p.Glu158fs)
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NM_020436.5(SALL4):c.477A>G (p.Thr159=)
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NM_020436.5(SALL4):c.485C>T (p.Pro162Leu)
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NM_020436.5(SALL4):c.516_522del (p.Gly174fs)
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rs2078047390
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NM_020436.5(SALL4):c.523A>T (p.Lys175Ter)
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rs74315426
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NM_020436.5(SALL4):c.526G>A (p.Val176Met)
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NM_020436.5(SALL4):c.531C>T (p.Ala177=)
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NM_020436.5(SALL4):c.540_541inv (p.Val181Met)
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NM_020436.5(SALL4):c.563del (p.Gly188fs)
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rs1555850961
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NM_020436.5(SALL4):c.573G>A (p.Val191=)
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NM_020436.5(SALL4):c.575C>A (p.Ala192Glu)
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NM_020436.5(SALL4):c.588G>A (p.Arg196=)
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NM_020436.5(SALL4):c.593C>T (p.Ala198Val)
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NM_020436.5(SALL4):c.596A>G (p.Asp199Gly)
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NM_020436.5(SALL4):c.599C>T (p.Ala200Val)
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NM_020436.5(SALL4):c.646G>A (p.Glu216Lys)
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NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr)
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rs774714248
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NM_020436.5(SALL4):c.712C>T (p.Gln238Ter)
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rs2122965458
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NM_020436.5(SALL4):c.762C>T (p.Ala254=)
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rs141546409
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NM_020436.5(SALL4):c.770T>G (p.Leu257Arg)
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NM_020436.5(SALL4):c.776C>T (p.Thr259Ile)
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NM_020436.5(SALL4):c.789C>T (p.His263=)
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NM_020436.5(SALL4):c.827dup (p.Ser276fs)
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rs1568865283
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NM_020436.5(SALL4):c.853T>C (p.Ser285Pro)
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NM_020436.5(SALL4):c.888C>T (p.His296=)
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NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)
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NM_020436.5(SALL4):c.891C>T (p.Ala297=)
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NM_020436.5(SALL4):c.941dup (p.Leu315fs)
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rs1601170799
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NM_020436.5(SALL4):c.986G>A (p.Arg329His)
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NM_020436.5(SALL4):c.9G>A (p.Arg3=)
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