NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)
|
rs1064793257
|
0.00001
|
NC_000016.9:g.(?_51185057)_(51185152_?)del
|
|
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NM_002968.3(SALL1):c.1027dup (p.Ile343fs)
|
rs2143448046
|
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NM_002968.3(SALL1):c.1028dup (p.Leu344fs)
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rs2143448019
|
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NM_002968.3(SALL1):c.1108_1109del (p.Val370fs)
|
rs1085307143
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NM_002968.3(SALL1):c.1112C>G (p.Ser371Ter)
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|
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NM_002968.3(SALL1):c.1115C>A (p.Ser372Ter)
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rs104894535
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NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter)
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rs104894535
|
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NM_002968.3(SALL1):c.1148del (p.Leu383fs)
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|
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NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter)
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|
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NM_002968.3(SALL1):c.1214dup (p.Leu406fs)
|
rs1555475275
|
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NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter)
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|
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NM_002968.3(SALL1):c.1240G>T (p.Glu414Ter)
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|
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NM_002968.3(SALL1):c.1256T>A (p.Leu419Ter)
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rs137853084
|
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NM_002968.3(SALL1):c.1270del (p.Gln424fs)
|
rs1597230349
|
|
NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs)
|
rs1597230341
|
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NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter)
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|
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NM_002968.3(SALL1):c.1324del (p.Ser442fs)
|
rs1597230288
|
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NM_002968.3(SALL1):c.1347_1348del (p.His449fs)
|
rs1597230241
|
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NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)
|
rs2143446286
|
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NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs)
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rs1962410902
|
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NM_002968.3(SALL1):c.1380_1381del (p.Ser460fs)
|
rs1064796960
|
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NM_002968.3(SALL1):c.1393C>T (p.Gln465Ter)
|
rs1057518273
|
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NM_002968.3(SALL1):c.1417G>T (p.Gly473Ter)
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|
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NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs)
|
rs2143446012
|
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NM_002968.3(SALL1):c.1763dup (p.Gly589fs)
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rs1057518232
|
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NM_002968.3(SALL1):c.1821del (p.Leu608fs)
|
rs1597229721
|
|
NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter)
|
rs1197587893
|
|
NM_002968.3(SALL1):c.2256del (p.Tyr753fs)
|
rs1555475120
|
|
NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs)
|
|
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NM_002968.3(SALL1):c.2356del (p.Arg786fs)
|
rs1555475106
|
|
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)
|
rs1597228568
|
|
NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs)
|
rs1597228188
|
|
NM_002968.3(SALL1):c.3099_3105dup (p.Arg1036fs)
|
rs886042011
|
|
NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs)
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|
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NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter)
|
rs864321635
|
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NM_002968.3(SALL1):c.388_391delinsTTTGCTAACAAAGCGGCAGCGGCACTT (p.Pro130fs)
|
rs2143451854
|
|
NM_002968.3(SALL1):c.420del (p.Ser141fs)
|
rs1962442258
|
|
NM_002968.3(SALL1):c.469_512dup (p.Ile172fs)
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|
|
NM_002968.3(SALL1):c.565_566dup (p.Val190fs)
|
rs2143450333
|
|
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)
|
rs2143450145
|
|
NM_002968.3(SALL1):c.633_634del (p.Gln212fs)
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|
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NM_002968.3(SALL1):c.691del (p.Glu231fs)
|
rs2143449682
|
|
NM_002968.3(SALL1):c.709C>T (p.Gln237Ter)
|
rs2143449624
|
|
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.750dup (p.Arg251fs)
|
rs1962428520
|
|
NM_002968.3(SALL1):c.76+5G>A
|
|
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NM_002968.3(SALL1):c.792_793del (p.Leu264fs)
|
rs1597230909
|
|
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.866T>A (p.Leu289Ter)
|
rs1555475334
|
|
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)
|
rs886041236
|
|
NM_002968.3(SALL1):c.870dup (p.Gln291fs)
|
rs2143448859
|
|
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)
|
rs1962424706
|
|
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)
|
|
|
NM_002968.3(SALL1):c.878_887del (p.Leu293fs)
|
|
|
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs)
|
rs2143448771
|
|
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)
|
rs864621971
|
|
NM_002968.3(SALL1):c.953del (p.Pro318fs)
|
|
|
NM_002968.3(SALL1):c.958C>T (p.Gln320Ter)
|
rs1555475319
|
|
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter)
|
rs104894538
|
|
NM_002968.3(SALL1):c.995del (p.Pro332fs)
|
rs1597230687
|
|