NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser)
|
rs138284359
|
0.00031
|
NM_012388.4(BLOC1S6):c.125T>C (p.Leu42Ser)
|
rs201461886
|
0.00016
|
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile)
|
rs574333116
|
0.00009
|
NM_012388.4(BLOC1S6):c.82+6del
|
rs779246428
|
0.00008
|
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr)
|
rs374731803
|
0.00004
|
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu)
|
rs1042113102
|
0.00004
|
NM_012388.4(BLOC1S6):c.130A>G (p.Ile44Val)
|
rs564232908
|
0.00003
|
NM_012388.4(BLOC1S6):c.224C>T (p.Thr75Ile)
|
rs768978261
|
0.00003
|
NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu)
|
rs759539185
|
0.00003
|
NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser)
|
rs200204287
|
0.00002
|
NM_012388.4(BLOC1S6):c.391A>G (p.Lys131Glu)
|
rs1339131805
|
0.00002
|
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn)
|
rs149605903
|
0.00001
|
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val)
|
rs779791657
|
0.00001
|
NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp)
|
rs1048656816
|
0.00001
|
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys)
|
rs1427586266
|
0.00001
|
NM_012388.4(BLOC1S6):c.350A>G (p.Asn117Ser)
|
rs1230644464
|
0.00001
|
NM_012388.4(BLOC1S6):c.421C>T (p.Gln141Ter)
|
rs759015758
|
0.00001
|
NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr)
|
rs770901442
|
0.00001
|
NM_012388.4(BLOC1S6):c.508A>G (p.Lys170Glu)
|
rs760751818
|
0.00001
|
NC_000015.9:g.(?_45879642)_(45898712_?)dup
|
|
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NM_012388.4(BLOC1S6):c.101C>G (p.Pro34Arg)
|
|
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NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)
|
|
|
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu)
|
rs1893910592
|
|
NM_012388.4(BLOC1S6):c.120G>A (p.Glu40=)
|
|
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NM_012388.4(BLOC1S6):c.14G>A (p.Gly5Glu)
|
rs756977799
|
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NM_012388.4(BLOC1S6):c.14G>T (p.Gly5Val)
|
rs756977799
|
|
NM_012388.4(BLOC1S6):c.152A>G (p.Gln51Arg)
|
rs1893913150
|
|
NM_012388.4(BLOC1S6):c.157G>A (p.Ala53Thr)
|
|
|
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn)
|
rs746059095
|
|
NM_012388.4(BLOC1S6):c.196A>G (p.Arg66Gly)
|
rs1595552977
|
|
NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu)
|
rs775671194
|
|
NM_012388.4(BLOC1S6):c.225-14_225-13insA
|
rs1894325968
|
|
NM_012388.4(BLOC1S6):c.257A>G (p.Glu86Gly)
|
rs2140916217
|
|
NM_012388.4(BLOC1S6):c.25C>T (p.Pro9Ser)
|
rs1442888203
|
|
NM_012388.4(BLOC1S6):c.269C>T (p.Ser90Leu)
|
rs1894328541
|
|
NM_012388.4(BLOC1S6):c.286C>T (p.His96Tyr)
|
rs1595559213
|
|
NM_012388.4(BLOC1S6):c.289T>C (p.Ser97Pro)
|
rs1274935670
|
|
NM_012388.4(BLOC1S6):c.313-3A>T
|
rs1366252583
|
|
NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln)
|
rs370118149
|
|
NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)
|
|
|
NM_012388.4(BLOC1S6):c.350A>T (p.Asn117Ile)
|
rs1230644464
|
|
NM_012388.4(BLOC1S6):c.358A>C (p.Lys120Gln)
|
rs2140919031
|
|
NM_012388.4(BLOC1S6):c.359_360del (p.Lys120fs)
|
|
|
NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)
|
|
|
NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile)
|
rs1242644356
|
|
NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu)
|
rs1894463062
|
|
NM_012388.4(BLOC1S6):c.434A>G (p.Lys145Arg)
|
rs1894463182
|
|
NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp)
|
rs141581736
|
|
NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)
|
|
|
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln)
|
rs145937442
|
|
NM_012388.4(BLOC1S6):c.469G>A (p.Glu157Lys)
|
rs1253763397
|
|
NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs)
|
rs1350528661
|
|
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser)
|
rs775510569
|
|
NM_012388.4(BLOC1S6):c.503C>T (p.Pro168Leu)
|
|
|
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
|
|
|
NM_012388.4(BLOC1S6):c.82+12C>T
|
rs763484836
|
|
NM_012388.4(BLOC1S6):c.82+17G>A
|
|
|
NM_012388.4(BLOC1S6):c.82+4C>G
|
|
|
NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)
|
|
|
NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)
|
|
|