NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
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rs142787001
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0.00284
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NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)
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rs730880963
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0.00002
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NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)
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rs752148586
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0.00002
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NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
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rs750779804
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0.00001
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NM_000271.4(NPC1):c.2134_2135del
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NM_000271.4(NPC1):c.3249_3250del
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NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
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NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)
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rs1278305591
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NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
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NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
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NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
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NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
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NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
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NM_000271.5(NPC1):c.1451del (p.Val484fs)
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NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
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NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
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NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
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NM_000271.5(NPC1):c.1628del (p.Pro543fs)
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rs1555635957
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NM_000271.5(NPC1):c.1654+1dup
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NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
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NM_000271.5(NPC1):c.1757+1G>T
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NM_000271.5(NPC1):c.1757+2T>G
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NM_000271.5(NPC1):c.1757+2_1757+3del
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NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
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NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
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NM_000271.5(NPC1):c.2077del (p.Leu693fs)
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NM_000271.5(NPC1):c.2086del (p.Ala696fs)
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NM_000271.5(NPC1):c.2130+1G>C
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NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
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NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
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NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)
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rs1555633697
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NM_000271.5(NPC1):c.2515-2A>G
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NM_000271.5(NPC1):c.2604+2T>G
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NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)
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rs2058690179
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NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
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NM_000271.5(NPC1):c.2647del (p.Leu883fs)
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NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
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NM_000271.5(NPC1):c.2719del (p.Met907fs)
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NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
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NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
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NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
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NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
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NM_000271.5(NPC1):c.2795+56C>T
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rs2058685029
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NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
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NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
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NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
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rs775915490
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NM_000271.5(NPC1):c.3003del (p.Met1001fs)
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NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)
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rs764789542
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NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
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NM_000271.5(NPC1):c.3041+1G>T
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NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
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NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
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NM_000271.5(NPC1):c.3245+1G>T
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NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
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rs774602107
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NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
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NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
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NM_000271.5(NPC1):c.3281del (p.Ile1094fs)
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NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
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NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
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NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
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NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
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NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
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NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
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rs1555631998
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NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
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NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
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NM_000271.5(NPC1):c.370dup (p.Thr124fs)
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NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
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NM_000271.5(NPC1):c.392dup (p.Asp131fs)
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NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
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NM_000271.5(NPC1):c.497C>A (p.Pro166His)
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NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
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NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
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NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
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NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
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NM_000271.5(NPC1):c.692_693del (p.Val231fs)
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NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
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NM_000271.5(NPC1):c.754del (p.Gln252fs)
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NM_000271.5(NPC1):c.762del (p.Pro255fs)
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NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
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NM_000271.5(NPC1):c.895del (p.Val299fs)
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NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
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NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)
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rs748411156
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NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
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rs120074117
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NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
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rs398123478
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NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
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