Homozygouse variants
| | |
RYR1:NM_000540:exon7:c.A594G:p.L198L,RYR1:NM_001042723:exon7:c.A594G:p.L198L
|
0,603029
|
0,6
|
RYR1:NM_000540:exon11:c.T1077C:p.A359A,RYR1:NM_001042723:exon11:c.T1077C:p.A359A
|
0,895202
|
0,93
|
RYR1:NM_000540:exon15:c.G1668A:p.S556S,RYR1:NM_001042723:exon15:c.G1668A:p.S556S
|
0,632093
|
0,64
|
RYR1:NM_000540:exon19:c.C2286T:p.P762P,RYR1:NM_001042723:exon19:c.C2286T:p.P762P
|
0,617023
|
0,62
|
RYR1:NM_000540:exon24:c.G2943A:p.T981T,RYR1:NM_001042723:exon24:c.G2943A:p.T981T
|
0,597092
|
0,6
|
Heterozygouse variants
| | |
RYR1:NM_000540:exon45:c.C7260T:p.H2420H,RYR1:NM_001042723:exon45:c.C7260T:p.H2420H
|
0,02914
|
0,03
|
RYR1:NM_000540:exon49:c.C7872T:p.R2624R,RYR1:NM_001042723:exon49:c.C7872T:p.R2624R
|
0,168538
|
0,16
|
RYR1:NM_000540:exon50:c.G7977A:p.T2659T,RYR1:NM_001042723:exon50:c.G7977A:p.T2659T
|
0,319545
|
0,36
|
RYR1:NM_000540:exon51:c.T8118C:p.I2706I,RYR1:NM_001042723:exon51:c.T8118C:p.I2706I
|
0,319775
|
0,36
|
RYR1:NM_000540:exon51:c.T8190C:p.D2730D,RYR1:NM_001042723:exon51:c.T8190C:p.D2730D
|
0,32362
|
0,37
|
RYR1:NM_000540:exon53:c.G8337A:p.E2779E,RYR1:NM_001042723:exon53:c.G8337A:p.E2779E
|
0,308213
|
0,35
|
RYR1:NM_000540:exon55:c.T8589C:p.S2863S,RYR1:NM_001042723:exon55:c.T8589C:p.S2863S
|
0,313624
|
0,36
|
RYR1:NM_000540:exon62:c.A9186G:p.P3062P,RYR1:NM_001042723:exon62:c.A9186G:p.P3062P
|
0,310857
|
0,35
|
RYR1:NM_001042723:exon97:c.A14241C:p.T4747T,RYR1:NM_000540:exon98:c.A14256C:p.T4752T
|
0,108642
|
0,14
|
RYR1:NM_001042723:exon101:c.T14678C:p.I4893T,RYR1:NM_000540:exon102:c.T14693C:p.I4898T
|
0
|
0
|