NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
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rs104894047
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0.00191
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NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
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rs104894043
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0.00006
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NM_000193.4(SHH):c.708C>A (p.Ser236Arg)
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rs587778806
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0.00003
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NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
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rs137853341
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0.00001
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NM_000193.4(SHH):c.664G>A (p.Asp222Asn)
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rs587778805
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0.00001
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GRCh37/hg19 7q36.2-36.3(chr7:154831466-156356088)
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GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
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NC_000007.13:g.(?_152617597)_(158500659_?)del
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NC_000007.13:g.(?_155596114)_(155657138_?)del
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NM_000193.4(SHH):c.100_101del (p.Arg34fs)
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rs1584806077
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NM_000193.4(SHH):c.1040C>T (p.Pro347Leu)
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rs886042458
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NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)
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rs397515376
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NM_000193.4(SHH):c.1172del (p.Ala391fs)
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rs1803239521
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NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del)
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rs587778786
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NM_000193.4(SHH):c.1270C>G (p.Pro424Ala)
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rs104894048
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NM_000193.4(SHH):c.1284del (p.Thr429fs)
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rs1057518660
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NM_000193.4(SHH):c.1307C>A (p.Ser436Ter)
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rs1554493607
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NM_000193.4(SHH):c.214C>T (p.Arg72Ter)
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rs779093031
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NM_000193.4(SHH):c.263A>T (p.Asp88Val)
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rs104894050
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NM_000193.4(SHH):c.298C>T (p.Gln100Ter)
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rs104894044
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NM_000193.4(SHH):c.300G>C (p.Gln100His)
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rs587778792
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NM_000193.4(SHH):c.313A>T (p.Lys105Ter)
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rs104894045
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NM_000193.4(SHH):c.345C>A (p.Asn115Lys)
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rs267607047
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NM_000193.4(SHH):c.349T>C (p.Trp117Arg)
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rs104894040
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NM_000193.4(SHH):c.349T>G (p.Trp117Gly)
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rs104894040
|
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NM_000193.4(SHH):c.383G>A (p.Trp128Ter)
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rs104894053
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NM_000193.4(SHH):c.38_45del (p.Val13fs)
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rs587778789
|
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NM_000193.4(SHH):c.415_416del (p.Leu139fs)
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rs1584800607
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NM_000193.4(SHH):c.419_423dup (p.Glu142fs)
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rs1584800601
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NM_000193.4(SHH):c.474C>G (p.Tyr158Ter)
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rs146990376
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NM_000193.4(SHH):c.562G>C (p.Glu188Gln)
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rs587778799
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NM_000193.4(SHH):c.625C>T (p.Gln209Ter)
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rs587778803
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NM_000193.4(SHH):c.671T>A (p.Val224Glu)
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rs104894042
|
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NM_000193.4(SHH):c.6_9dup (p.Leu4fs)
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rs587778788
|
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NM_000193.4(SHH):c.705del (p.Leu234_Tyr235insTer)
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|
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NM_000193.4(SHH):c.766G>T (p.Glu256Ter)
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rs104894051
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NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del)
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rs397515375
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NM_000193.4(SHH):c.850G>T (p.Glu284Ter)
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rs104894046
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NM_000193.4(SHH):c.851_873del (p.Glu284fs)
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rs1554493810
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NM_000193.4(SHH):c.91G>A (p.Gly31Arg)
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rs28936675
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c.1308C>T
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