GRCh37/hg19 9q22.32(chr9:98089678-98282528)x1
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GRCh37/hg19 9q22.32(chr9:98209194-98279102)x1
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GRCh37/hg19 9q22.32(chr9:98226015-98298532)x1
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NM_000264.5(PTCH1):c.1028_1029dup (p.Gly344fs)
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NM_000264.5(PTCH1):c.1031del (p.Gly344fs)
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rs2118389988
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NM_000264.5(PTCH1):c.1068-1G>A
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rs1085307752
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NM_000264.5(PTCH1):c.1086dup (p.Met363fs)
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rs1064793474
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NM_000264.5(PTCH1):c.1119C>G (p.Tyr373Ter)
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rs2066831
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NM_000264.5(PTCH1):c.1252_1253del (p.Lys418fs)
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rs2118337307
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NM_000264.5(PTCH1):c.1304_1305del (p.Phe434_Ser435insTer)
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NM_000264.5(PTCH1):c.1348-2A>G
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rs1064793978
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NM_000264.5(PTCH1):c.1405_1423del (p.Val469fs)
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rs1554698587
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NM_000264.5(PTCH1):c.1435_1436del (p.Leu479fs)
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NM_000264.5(PTCH1):c.1503+1G>C
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rs864622293
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NM_000264.5(PTCH1):c.1585A>T (p.Lys529Ter)
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rs780434261
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NM_000264.5(PTCH1):c.1603-2A>G
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rs1064793921
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NM_000264.5(PTCH1):c.1615del (p.Glu539fs)
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rs878853847
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NM_000264.5(PTCH1):c.1615dup (p.Glu539fs)
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rs878853847
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NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)
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rs781768965
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NM_000264.5(PTCH1):c.202-2A>G
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rs878853849
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NM_000264.5(PTCH1):c.2561-1G>A
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rs1131691700
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NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
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rs864622212
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NM_000264.5(PTCH1):c.260dup (p.Leu87fs)
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rs2118879524
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NM_000264.5(PTCH1):c.2626G>T (p.Gly876Ter)
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rs1131691758
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NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)
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rs1064796618
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NM_000264.5(PTCH1):c.2703+2T>A
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rs2136686524
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NM_000264.5(PTCH1):c.2712dup (p.Gln905fs)
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rs143091773
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NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter)
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rs1587693544
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NM_000264.5(PTCH1):c.279C>G (p.Tyr93Ter)
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NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
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rs1064794260
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NM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer)
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rs1064793991
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NM_000264.5(PTCH1):c.2899G>T (p.Glu967Ter)
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rs886041943
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NM_000264.5(PTCH1):c.290dup (p.Asn97fs)
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rs1554708751
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NM_000264.5(PTCH1):c.3042del (p.Phe1015fs)
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rs886039540
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NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs)
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rs886039678
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NM_000264.5(PTCH1):c.3094_3095del (p.Ile1032fs)
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rs1839105353
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NM_000264.5(PTCH1):c.3314dup (p.Thr1106fs)
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rs1554690484
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NM_000264.5(PTCH1):c.343G>T (p.Gly115Ter)
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rs794727242
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NM_000264.5(PTCH1):c.394+1G>A
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rs1131690995
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NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)
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rs1131690986
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NM_000264.5(PTCH1):c.451del (p.Ala151fs)
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rs2118547596
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NM_000264.5(PTCH1):c.489_490insTA (p.Glu164Ter)
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rs1064796259
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NM_000264.5(PTCH1):c.493_503del (p.Glu165fs)
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rs2118543208
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NM_000264.5(PTCH1):c.585-1G>C
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rs1057520590
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NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)
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rs1064793922
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NM_000264.5(PTCH1):c.606del (p.Leu202fs)
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rs1064794117
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NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter)
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rs1554700647
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NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer)
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rs1131690969
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NM_000264.5(PTCH1):c.817_820delinsGAT (p.Tyr273fs)
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rs1554699969
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NM_000264.5(PTCH1):c.822del (p.Val275fs)
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rs1554699964
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NM_000264.5(PTCH1):c.833G>A (p.Trp278Ter)
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