NM_001382567.1(STIM1):c.1634+319G>A
|
rs118128831
|
0.00808
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_001382567.1(STIM1):c.1634+269C>G
|
rs139558513
|
0.00229
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
|
rs141215990
|
0.00163
|
NM_001382567.1(STIM1):c.1634+287G>A
|
rs562406813
|
0.00157
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg)
|
rs781829024
|
0.00102
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00024
|
NM_032578.4(MYPN):c.952G>A (p.Val318Ile)
|
rs112518450
|
0.00021
|
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
0.00019
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)
|
rs750326949
|
0.00011
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)
|
rs757348453
|
0.00006
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)
|
rs760170099
|
0.00004
|
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)
|
rs755392435
|
0.00002
|
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala)
|
rs1164327463
|
0.00001
|
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)
|
rs765949668
|
0.00001
|
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)
|
rs564582352
|
0.00001
|
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)
|
rs745852751
|
0.00001
|
NM_032608.7(MYO18B):c.2135G>A (p.Arg712His)
|
rs772067339
|
0.00001
|
NM_001103.4(ACTN2):c.2024T>C (p.Met675Thr)
|
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly)
|
rs759739899
|
|
NM_002693.3(POLG):c.2466C>G (p.Pro822=)
|
rs1235161601
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_004281.4(BAG3):c.1108C>G (p.Pro370Ala)
|
|
|
NM_004281.4(BAG3):c.467C>T (p.Ala156Val)
|
rs572038196
|
|
NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro)
|
|
|
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
|
|
|
NM_032578.4(MYPN):c.3158+6G>T
|
|
|