NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_000157.4(GBA1):c.474C>T (p.Ile158=)
|
rs147411159
|
0.00057
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)
|
rs200008050
|
0.00022
|
NM_000157.4(GBA1):c.535G>C (p.Asp179His)
|
rs147138516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000157.4(GBA1):c.168C>T (p.Val56=)
|
rs145773486
|
0.00011
|
NM_002778.4(PSAP):c.*574G>C
|
rs549402343
|
0.00010
|
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys)
|
rs148519599
|
0.00007
|
NM_000157.4(GBA1):c.1495G>A (p.Val499Met)
|
rs369068553
|
0.00006
|
NM_002778.4(PSAP):c.*1008C>T
|
rs537171961
|
0.00006
|
NM_002778.4(PSAP):c.*276G>A
|
rs547409137
|
0.00006
|
NM_002778.4(PSAP):c.695G>A (p.Arg232His)
|
rs147265566
|
0.00006
|
NM_002778.4(PSAP):c.*596A>G
|
rs965039324
|
0.00005
|
NM_002778.4(PSAP):c.-22G>C
|
rs569841336
|
0.00005
|
NM_000157.4(GBA1):c.1455A>G (p.Ala485=)
|
rs199928507
|
0.00004
|
NM_002778.4(PSAP):c.*346C>T
|
rs951110904
|
0.00004
|
NM_000157.4(GBA1):c.1447C>T (p.Leu483=)
|
rs369966551
|
0.00003
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_002778.4(PSAP):c.*787C>T
|
rs932052243
|
0.00003
|
NM_002778.4(PSAP):c.380G>A (p.Arg127His)
|
rs886047151
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)
|
rs886047150
|
0.00003
|
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)
|
rs757930613
|
0.00002
|
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)
|
rs1141812
|
0.00002
|
NM_000157.4(GBA1):c.941A>G (p.Asn314Ser)
|
rs535896234
|
0.00002
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)
|
rs1428436713
|
0.00002
|
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)
|
rs78396650
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
0.00001
|
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)
|
rs1571966221
|
0.00001
|
NM_000157.4(GBA1):c.145G>A (p.Gly49Ser)
|
rs760930573
|
0.00001
|
NM_000157.4(GBA1):c.171C>T (p.Cys57=)
|
rs1671995080
|
0.00001
|
NM_000157.4(GBA1):c.34C>T (p.Pro12Ser)
|
rs763770350
|
0.00001
|
NM_002778.4(PSAP):c.*238G>C
|
rs1174797357
|
0.00001
|
NM_002778.4(PSAP):c.*90C>T
|
rs1348415797
|
0.00001
|
NM_002778.4(PSAP):c.*935A>G
|
rs886047148
|
0.00001
|
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile)
|
rs759178813
|
0.00001
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu)
|
rs143016278
|
0.00001
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
NM_000157.4(GBA1):c.1077C>A (p.Ala359=)
|
rs1671753933
|
|
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)
|
rs2148083300
|
|
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)
|
rs1571965884
|
|
NM_000157.4(GBA1):c.1389-33del
|
rs1671680082
|
|
NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn)
|
rs779958429
|
|
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA
|
rs1557900564
|
|
NM_000157.4(GBA1):c.1548G>C (p.Val516=)
|
rs1671659716
|
|
NM_000157.4(GBA1):c.1566C>T (p.Ile522=)
|
rs1671657974
|
|
NM_000157.4(GBA1):c.167T>A (p.Val56Asp)
|
rs878853318
|
|
NM_000157.4(GBA1):c.175G>A (p.Ala59Thr)
|
rs1671994799
|
|
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)
|
rs794727708
|
|
NM_000157.4(GBA1):c.455-7T>C
|
rs1671901028
|
|
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
|
|
|
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)
|
rs781152868
|
|
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe)
|
rs1671865905
|
|
NM_000157.4(GBA1):c.730T>C (p.Tyr244His)
|
rs1671863930
|
|
NM_000157.4(GBA1):c.751T>C (p.Tyr251His)
|
rs121908300
|
|
NM_000157.4(GBA1):c.835C>G (p.Leu279Val)
|
rs1057519020
|
|
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr)
|
rs1671824775
|
|
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)
|
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)
|
rs1554933800
|
|
NM_002778.4(PSAP):c.*113C>T
|
rs544214520
|
|
NM_002778.4(PSAP):c.*526G>A
|
rs1842177081
|
|
NM_002778.4(PSAP):c.*73C>T
|
rs541692197
|
|
NM_002778.4(PSAP):c.*859C>T
|
rs886047149
|
|
NM_002778.4(PSAP):c.1329G>T (p.Leu443=)
|
rs1842249121
|
|
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)
|
rs761637109
|
|
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)
|
rs757553906
|
|
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=)
|
rs758321016
|
|