NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_170606.3(KMT2C):c.925C>T (p.Pro309Ser)
|
rs138627563
|
0.00570
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
NM_004993.6(ATXN3):c.776-3C>T
|
rs201992162
|
0.00073
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)
|
rs142068634
|
0.00016
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln)
|
rs145412643
|
0.00009
|
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)
|
rs146468976
|
0.00006
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
NM_004380.3(CREBBP):c.69G>A (p.Ser23=)
|
rs766095612
|
0.00004
|
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192
|
0.00004
|
NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile)
|
rs145082960
|
0.00003
|
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)
|
rs121918080
|
0.00002
|
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)
|
rs751515136
|
0.00001
|
NM_004977.3(KCNC3):c.1768G>A (p.Gly590Ser)
|
rs1167185763
|
0.00001
|
NM_007118.4(TRIO):c.3066+5G>A
|
rs1419486837
|
0.00001
|
NM_015346.4(ZFYVE26):c.2429G>A (p.Arg810Gln)
|
rs1395832064
|
0.00001
|
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr)
|
rs140384868
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys)
|
rs367603277
|
|
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del)
|
rs759331923
|
|
NM_001128164.2(ATXN1):c.1563G>C (p.Thr521=)
|
rs528819863
|
|
NM_001267550.2(TTN):c.14920A>C (p.Thr4974Pro)
|
rs1050370854
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|