NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)
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rs9878928
|
0.07568
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NC_000003.12:g.57200194A>C
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rs983243
|
0.00148
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
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rs143057250
|
0.00064
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NM_003865.2(HESX1):c.-230T>A
|
rs549564119
|
0.00050
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NM_003865.3(HESX1):c.220G>A (p.Val74Met)
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rs148422263
|
0.00014
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NM_003865.3(HESX1):c.-6G>A
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rs368171529
|
0.00012
|
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln)
|
rs768165720
|
0.00011
|
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)
|
rs28936704
|
0.00008
|
NM_003865.3(HESX1):c.*48G>A
|
rs372550682
|
0.00005
|
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)
|
rs770886420
|
0.00004
|
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn)
|
rs1332400265
|
0.00001
|
NM_003865.3(HESX1):c.124C>T (p.His42Tyr)
|
rs761470587
|
0.00001
|
NM_003865.3(HESX1):c.183T>C (p.His61=)
|
rs374187836
|
0.00001
|
NM_003865.3(HESX1):c.240del (p.Glu81fs)
|
rs777833871
|
0.00001
|
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter)
|
rs777223697
|
0.00001
|
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)
|
rs754137696
|
0.00001
|
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys)
|
rs28936702
|
0.00001
|
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
|
|
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NM_000193.4(SHH):c.562+1G>A
|
|
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NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
|
|
NM_003865.2(HESX1):c.-203_-200delAATT
|
rs886058754
|
|
NM_003865.2(HESX1):c.-245delT
|
rs886058755
|
|
NM_003865.3(HESX1):c.*192T>A
|
rs886058753
|
|
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn)
|
rs141863326
|
|
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs)
|
rs748460226
|
|
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)
|
|
|
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
|
|
|
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)
|
|
|
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)
|
rs2107566038
|
|
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu)
|
rs1385826685
|
|
NM_003865.3(HESX1):c.460-7A>G
|
rs1579346889
|
|
NM_003865.3(HESX1):c.525del (p.Asn178fs)
|
|
|
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
|
|
|
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)
|
rs758022116
|
|