|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
|
NM_003124.5(SPR):c.112G>A (p.Val38Ile)
|
rs146099322
|
0.00535
|
|
NM_014727.3(KMT2B):c.1760C>G (p.Pro587Arg)
|
rs2242519
|
0.00080
|
|
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr)
|
rs200122209
|
0.00039
|
|
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)
|
rs78644690
|
0.00035
|
|
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)
|
rs114596320
|
0.00032
|
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
|
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)
|
rs116794756
|
0.00030
|
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00021
|
|
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)
|
rs187733403
|
0.00019
|
|
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=)
|
rs115155458
|
0.00019
|
|
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)
|
rs115757876
|
0.00017
|
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
|
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu)
|
rs77439349
|
0.00016
|
|
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)
|
rs114511558
|
0.00015
|
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
|
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)
|
rs546381069
|
0.00011
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser)
|
rs200560568
|
0.00006
|
|
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)
|
rs199759398
|
0.00004
|
|
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)
|
rs756611519
|
0.00003
|
|
NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp)
|
rs757796461
|
0.00002
|
|
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)
|
rs751952844
|
0.00002
|
|
NM_004369.4(COL6A3):c.237T>C (p.Ala79=)
|
rs747312241
|
0.00002
|
|
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)
|
rs886043408
|
0.00001
|
|
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
|
|
|
|
NM_000718.4(CACNA1B):c.2869C>T (p.Arg957Trp)
|
|
|
|
NM_000718.4(CACNA1B):c.6340C>T (p.Arg2114Trp)
|
|
|
|
NM_000718.4(CACNA1B):c.95C>T (p.Pro32Leu)
|
|
|
|
NM_001025300.3(RAB12):c.352C>T (p.Pro118Ser)
|
|
|
|
NM_001029896.2(WDR45):c.331C>T (p.Arg111Cys)
|
|
|
|
NM_002233.4(KCNA4):c.146C>T (p.Ala49Val)
|
|
|
|
NM_003124.5(SPR):c.1A>C (p.Met1Leu)
|
|
|
|
NM_003560.4(PLA2G6):c.797G>C (p.Gly266Ala)
|
rs764286950
|
|
|
NM_003919.3(SGCE):c.1253+799G>A
|
|
|
|
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)
|
rs146083590
|
|
|
NM_004369.4(COL6A3):c.8965+9G>A
|
|
|
|
NM_006087.4(TUBB4A):c.982G>A (p.Glu328Lys)
|
|
|
|
NM_014727.3(KMT2B):c.2422CAG[6] (p.Gln812_Lys813insGln)
|
|
|
|
NM_014727.3(KMT2B):c.2702G>A (p.Arg901Gln)
|
|
|
|
NM_018105.3(THAP1):c.449A>C (p.His150Pro)
|
|
|
|
NM_032409.3(PINK1):c.158G>A (p.Gly53Asp)
|
|
|