NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)
|
rs77636085
|
0.00075
|
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr)
|
rs199861986
|
0.00010
|
NM_181882.3(PRX):c.1402G>A (p.Val468Met)
|
rs763489447
|
0.00006
|
NM_181882.3(PRX):c.716C>T (p.Pro239Leu)
|
rs528907584
|
0.00003
|
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val)
|
rs772563295
|
0.00002
|
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)
|
rs756689732
|
0.00002
|
NM_018972.4(GDAP1):c.298A>G (p.Thr100Ala)
|
rs1176333705
|
0.00001
|
NM_018972.4(GDAP1):c.706C>A (p.Gln236Lys)
|
rs760573105
|
0.00001
|
NM_024577.4(SH3TC2):c.529+1G>A
|
rs769410348
|
0.00001
|
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)
|
rs773478255
|
|
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly)
|
rs1571818953
|
|
NM_001005373.4(LRSAM1):c.119del (p.Glu40fs)
|
rs1588090984
|
|
NM_001136472.2(LITAF):c.302del (p.Lys101fs)
|
rs1597329350
|
|
NM_001136472.2(LITAF):c.377+1760_377+1763inv
|
|
|
NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys)
|
rs750686775
|
|
NM_001303256.3(MORC2):c.2795del (p.Lys932fs)
|
rs1602477282
|
|
NM_001365951.3(KIF1B):c.2115+6548G>A
|
rs781257253
|
|
NM_001365951.3(KIF1B):c.2115+7342C>T
|
rs1569778738
|
|
NM_001376.5(DYNC1H1):c.148del (p.Ala50fs)
|
rs1595590195
|
|
NM_001376.5(DYNC1H1):c.7931C>T (p.Thr2644Ile)
|
rs1595617838
|
|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954
|
|
NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro)
|
rs199966256
|
|
NM_001605.3(AARS1):c.2174del (p.Gly725fs)
|
rs1597435167
|
|
NM_001605.3(AARS1):c.660C>G (p.Ile220Met)
|
rs1422332765
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)
|
rs1555243999
|
|
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)
|
rs201455550
|
|
NM_006158.5(NEFL):c.898G>A (p.Ala300Thr)
|
rs774416609
|
|
NM_014845.6(FIG4):c.2132del (p.Ser711fs)
|
rs1583738240
|
|
NM_014874.4(MFN2):c.136del (p.Leu46fs)
|
rs1569803014
|
|
NM_024577.4(SH3TC2):c.*861dup
|
rs5872107
|
|
NM_024577.4(SH3TC2):c.1002-8del
|
rs1580903964
|
|
NM_024577.4(SH3TC2):c.2015del (p.Val672fs)
|
rs1580900610
|
|
NM_024577.4(SH3TC2):c.2696T>C (p.Leu899Pro)
|
rs112337746
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_181882.3(PRX):c.119_120del (p.Glu40fs)
|
rs1599662852
|
|
NM_181882.3(PRX):c.2612T>C (p.Val871Ala)
|
rs201389706
|
|
NM_181882.3(PRX):c.2615dup (p.Ala873fs)
|
rs374001049
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_181882.3(PRX):c.458del (p.Pro153fs)
|
rs1599656851
|
|