|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00012
|
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
|
NM_144988.4(ALG14):c.136+1G>C
|
rs150550220
|
0.00007
|
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
|
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu)
|
rs374324813
|
0.00005
|
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
|
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met)
|
rs148540135
|
0.00004
|
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
|
NM_001267550.2(TTN):c.63535A>G (p.Ser21179Gly)
|
rs772529311
|
0.00001
|
|
GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0
|
|
|
|
NM_000069.3(CACNA1S):c.1084del (p.Asp362fs)
|
|
|
|
NM_000069.3(CACNA1S):c.4516_4517del (p.Leu1506fs)
|
|
|
|
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)
|
rs137852801
|
|
|
NM_000257.3(MYH7):c.4522_4524del
|
rs397516220
|
|
|
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)
|
rs730880837
|
|
|
NM_000334.4(SCN4A):c.2919del (p.Glu974fs)
|
rs1567819905
|
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
|
NM_001080449.3(DNA2):c.940-1G>A
|
rs1590064469
|
|
|
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)
|
rs367543049
|
|
|
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)
|
rs1571893814
|
|
|
NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)
|
|
|
|
NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)
|
|
|
|
NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)
|
|
|
|
NM_001267550.2(TTN):c.42521G>A (p.Trp14174Ter)
|
|
|
|
NM_001267550.2(TTN):c.[102956_102958delCAA];[62722C>T]
|
|
|
|
NM_001395058.1(MYO15B):c.2651+2T>A
|
|
|
|
NM_001395058.1(MYO15B):c.8109T>G (p.Asp2703Glu)
|
|
|
|
NM_005087.4(FXR1):c.247A>G (p.Lys83Glu)
|
rs1721862059
|
|
|
NM_005087.4(FXR1):c.346A>G (p.Asn116Asp)
|
rs1721905984
|
|
|
NM_006757.4(TNNT3):c.67+128G>A
|
|
|
|
NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)
|
|
|
|
NM_006828.4(ASCC3):c.4682T>C (p.Phe1561Ser)
|
|
|
|
NM_014370.4(SRPK3):c.203_204del (p.Pro68fs)
|
|
|
|
NM_020647.4(JPH1):c.1510del (p.Glu504fs)
|
|
|
|
NM_020647.4(JPH1):c.1738del (p.Leu580fs)
|
|
|
|
NM_020647.4(JPH1):c.354C>A (p.Tyr118Ter)
|
|
|
|
NM_020647.4(JPH1):c.373del (p.Asp125fs)
|
|
|
|
NM_032578.4(MYPN):c.1317+1G>A
|
rs766502564
|
|
|
NM_145064.3(STAC3):c.88_91del (p.Leu30fs)
|
|
|