NM_006940.6(SOX5):c.481+29A>G
|
rs7980561
|
0.66790
|
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn)
|
rs371364235
|
0.00001
|
NM_006940.6(SOX5):c.1226C>A (p.Pro409His)
|
rs1565958110
|
0.00001
|
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser)
|
rs764767423
|
0.00001
|
GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1
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GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1
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GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1
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GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1
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GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1
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GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1
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NM_006940.6(SOX5):c.1017G>A (p.Gln339=)
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rs2138723102
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NM_006940.6(SOX5):c.1050G>C (p.Gln350His)
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rs1566239985
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NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)
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rs869025321
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NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)
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rs754590341
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NM_006940.6(SOX5):c.1136del (p.Ser379fs)
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NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
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NM_006940.6(SOX5):c.1280G>T (p.Gly427Val)
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rs780885506
|
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NM_006940.6(SOX5):c.1292C>T (p.Ala431Val)
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NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
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NM_006940.6(SOX5):c.1343-4733C>T
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rs1947477250
|
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NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)
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rs1592099852
|
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NM_006940.6(SOX5):c.1465dup (p.Leu489fs)
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rs1592099396
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NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)
|
rs895607185
|
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NM_006940.6(SOX5):c.1489-2A>G
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rs2136075793
|
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NM_006940.6(SOX5):c.1597+2T>A
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rs1555141265
|
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NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)
|
rs1591909421
|
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NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys)
|
rs1591908680
|
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NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
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NM_006940.6(SOX5):c.1678A>G (p.Met560Val)
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rs1591908609
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NM_006940.6(SOX5):c.1681A>C (p.Asn561His)
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rs1591908568
|
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NM_006940.6(SOX5):c.1694T>A (p.Val565Glu)
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NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)
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rs1565669640
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NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)
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|
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NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)
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rs773832380
|
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NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys)
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rs1942462618
|
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NM_006940.6(SOX5):c.1771+29G>A
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rs7485662
|
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NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)
|
rs1591833842
|
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NM_006940.6(SOX5):c.1789A>G (p.Met597Val)
|
rs1940534444
|
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NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter)
|
rs2135894892
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NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)
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rs1591833522
|
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NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys)
|
rs1591833522
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NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter)
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rs1591833497
|
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NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg)
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rs1341736288
|
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NM_006940.6(SOX5):c.1862del (p.Pro621fs)
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NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
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NM_006940.6(SOX5):c.1867T>C (p.Tyr623His)
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NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)
|
rs1591833159
|
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NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)
|
rs1135401816
|
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NM_006940.6(SOX5):c.211T>C (p.Ser71Pro)
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rs2097171827
|
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NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
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|
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NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
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NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
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|
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NM_006940.6(SOX5):c.251C>T (p.Thr84Ile)
|
rs772035716
|
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NM_006940.6(SOX5):c.291del (p.Met98fs)
|
|
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NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
|
|
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NM_006940.6(SOX5):c.352C>T (p.Arg118Ter)
|
rs2136047948
|
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NM_006940.6(SOX5):c.353G>T (p.Arg118Leu)
|
rs1217393451
|
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NM_006940.6(SOX5):c.392del (p.Thr131fs)
|
|
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NM_006940.6(SOX5):c.405dup (p.Lys136fs)
|
rs2096571436
|
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NM_006940.6(SOX5):c.433dup (p.Thr145fs)
|
rs2136046122
|
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NM_006940.6(SOX5):c.482-2A>C
|
rs1057518845
|
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NM_006940.6(SOX5):c.518G>A (p.Trp173Ter)
|
rs1594078334
|
|
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
|
|
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NM_006940.6(SOX5):c.5T>G (p.Leu2Arg)
|
|
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NM_006940.6(SOX5):c.616A>G (p.Ile206Val)
|
rs2093775713
|
|
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)
|
rs1555307370
|
|
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)
|
rs767241917
|
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NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
|
|
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NM_006940.6(SOX5):c.721del (p.Ala241fs)
|
|
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NM_006940.6(SOX5):c.747_748del (p.Arg250fs)
|
rs1555301854
|
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NM_006940.6(SOX5):c.755dup (p.Gln253fs)
|
rs2140907114
|
|
NM_006940.6(SOX5):c.798G>T (p.Gln266His)
|
rs2093521806
|
|
NM_006940.6(SOX5):c.804G>T (p.Gln268His)
|
rs2140906671
|
|
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter)
|
|
|
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter)
|
rs1593090725
|
|
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
|
|
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NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
|
|
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NM_006940.6(SOX5):c.932-2A>C
|
|
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NM_006940.6(SOX5):c.956del (p.Ile319fs)
|
|
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NM_006940.6(SOX5):c.959del (p.Pro320fs)
|
rs2079966010
|
|
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala)
|
rs1224542564
|
|
NM_152989.5(SOX5):c.-1-87764T>C
|
rs1949815031
|
|
NM_152989.5(SOX5):c.-175-344A>G
|
rs2136240323
|
|