NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)
|
rs201329683
|
0.00004
|
NM_033305.3(VPS13A):c.3961-2A>C
|
rs1244139989
|
0.00004
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_033305.3(VPS13A):c.7953+1G>A
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rs372141290
|
0.00002
|
NM_000447.3(PSEN2):c.448G>A (p.Val150Met)
|
rs866044092
|
0.00001
|
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)
|
rs763496520
|
0.00001
|
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)
|
rs137852965
|
0.00001
|
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser)
|
rs746484727
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_033305.3(VPS13A):c.8325+1G>A
|
rs1459022689
|
0.00001
|
NM_000146.4(FTL):c.-149G>C
|
rs398124638
|
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NM_000146.4(FTL):c.-161C>T
|
rs398124636
|
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NM_000146.4(FTL):c.-166T>C
|
rs2122429764
|
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NM_000146.4(FTL):c.485_489dup (p.Glu164fs)
|
rs2122436225
|
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NM_001386393.1(PANK2):c.*40G>C
|
rs1131692166
|
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NM_001386393.1(PANK2):c.-21G>T
|
rs780551883
|
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NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)
|
|
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NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr)
|
rs1568575271
|
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NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)
|
|
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NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)
|
|
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NM_001386393.1(PANK2):c.1082+1G>C
|
rs1600548506
|
|
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)
|
rs137852963
|
|
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)
|
rs559623184
|
|
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)
|
|
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NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)
|
rs111863748
|
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NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)
|
|
|
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
|
|
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NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)
|
|
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NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)
|
|
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NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
|
|
|
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)
|
rs2090674561
|
|
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)
|
|
|
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)
|
rs755653150
|
|
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)
|
rs1600477446
|
|
NM_001386393.1(PANK2):c.299-1G>A
|
|
|
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)
|
|
|
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)
|
|
|
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
|
|
|
NM_001386393.1(PANK2):c.652-2A>G
|
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)
|
rs777624606
|
|
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)
|
rs149907912
|
|
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
|
|
|
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)
|
rs1555788619
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
NM_006019.4(TCIRG1):c.713+1G>T
|
rs774308815
|
|
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)
|
rs2131030007
|
|
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
|
|
|
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)
|
rs2131029946
|
|
NM_033305.3(VPS13A):c.2203dup (p.Val735fs)
|
|
|
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs)
|
rs1825188183
|
|
NM_033305.3(VPS13A):c.2500del (p.Val834fs)
|
rs2131325474
|
|
NM_033305.3(VPS13A):c.2513-2A>T
|
rs1037030970
|
|
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
|
|
|
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
|
|
|
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)
|
rs2131427489
|
|
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
|
|
|
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs)
|
rs2131432786
|
|
NM_033305.3(VPS13A):c.5574+1G>A
|
rs1829731758
|
|
NM_033305.3(VPS13A):c.6379-1G>C
|
|
|
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)
|
rs1830740171
|
|
NM_033305.3(VPS13A):c.7027-1G>A
|
|
|
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)
|
rs756865623
|
|
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
|
|
|
NM_033305.3(VPS13A):c.8668-1G>A
|
rs2131587158
|
|
NM_033305.3(VPS13A):c.8744-2A>G
|
|
|
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
|
|
|
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
|
|
|
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)
|
rs1085307750
|
|
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
|
rs760822872
|
|
Single allele
|
|
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