1 |
TPM3
|
NM_152263.3(TPM3): c.503G> A (p.Arg168His)
|
single nucleotide variant |
Pathogenic |
rs121964852
|
GRCh37 |
Chromosome 1, 154145447: 154145447 |
2 |
TPM3
|
NM_152263.3(TPM3): c.298C> A (p.Leu100Met)
|
single nucleotide variant |
Pathogenic |
rs121964853
|
GRCh37 |
Chromosome 1, 154148670: 154148670 |
3 |
TPM3
|
NM_152263.3(TPM3): c.502C> G (p.Arg168Gly)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs121964854
|
GRCh37 |
Chromosome 1, 154145448: 154145448 |
4 |
TPM3
|
NM_152263.3(TPM3): c.502C> T (p.Arg168Cys)
|
single nucleotide variant |
Pathogenic |
rs121964854
|
GRCh37 |
Chromosome 1, 154145448: 154145448 |
5 |
MYH7
|
NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)
|
single nucleotide variant |
Pathogenic |
rs3218714
|
GRCh37 |
Chromosome 14, 23898488: 23898488 |
6 |
ACTA1
|
NM_001100.3(ACTA1): c.881A> T (p.Asp294Val)
|
single nucleotide variant |
Pathogenic |
rs121909529
|
GRCh37 |
Chromosome 1, 229567577: 229567577 |
7 |
ACTA1
|
NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro)
|
single nucleotide variant |
Pathogenic |
rs121909530
|
GRCh37 |
Chromosome 1, 229567881: 229567881 |
8 |
ACTA1
|
NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser)
|
single nucleotide variant |
Pathogenic |
rs121909531
|
GRCh37 |
Chromosome 1, 229567380: 229567380 |
9 |
MYH7
|
NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)
|
deletion |
Pathogenic |
rs367543052
|
GRCh37 |
Chromosome 14, 23884685: 23884687 |
10 |
MYH7
|
NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp)
|
single nucleotide variant |
Pathogenic |
rs367543053
|
GRCh37 |
Chromosome 14, 23882064: 23882064 |
11 |
RYR1
|
NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)
|
single nucleotide variant |
Pathogenic |
rs118192117
|
GRCh37 |
Chromosome 19, 38942486: 38942486 |
12 |
RYR1
|
NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter)
|
single nucleotide variant |
Pathogenic |
rs143849895
|
GRCh37 |
Chromosome 19, 39057593: 39057593 |
13 |
RYR1
|
NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter)
|
single nucleotide variant |
Pathogenic |
rs367543055
|
GRCh37 |
Chromosome 19, 38976628: 38976628 |
14 |
RYR1
|
NM_000540.2(RYR1): c.6104A> T (p.His2035Leu)
|
single nucleotide variant |
Pathogenic |
rs367543056
|
GRCh37 |
Chromosome 19, 38981349: 38981349 |
15 |
RYR1
|
NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter)
|
single nucleotide variant |
Pathogenic |
rs367543054
|
GRCh37 |
Chromosome 19, 38937346: 38937346 |
16 |
RYR1
|
NM_000540.2(RYR1): c.9000+1G> T
|
single nucleotide variant |
Pathogenic |
rs111364670
|
GRCh37 |
Chromosome 19, 39001206: 39001206 |
17 |
RYR1
|
NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys)
|
single nucleotide variant |
Pathogenic |
rs367543057
|
GRCh37 |
Chromosome 19, 39008291: 39008291 |
18 |
ACTA1
|
NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp)
|
single nucleotide variant |
Pathogenic |
rs367543049
|
GRCh37 |
Chromosome 1, 229568614: 229568614 |
19 |
ACTA1
|
NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys)
|
single nucleotide variant |
Pathogenic |
rs367543048
|
GRCh37 |
Chromosome 1, 229568847: 229568847 |
20 |
ACTA1
|
NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp)
|
single nucleotide variant |
Pathogenic |
rs367543050
|
GRCh37 |
Chromosome 1, 229567928: 229567928 |
21 |
ACTA1
|
NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys)
|
single nucleotide variant |
Pathogenic |
rs367543051
|
GRCh37 |
Chromosome 1, 229567822: 229567822 |
22 |
TPM3
|
NM_152263.3(TPM3): c.11C> T (p.Ala4Val)
|
single nucleotide variant |
Pathogenic |
rs199474711
|
GRCh37 |
Chromosome 1, 154164484: 154164484 |
23 |
TPM3
|
NM_152263.3(TPM3): c.272G> C (p.Arg91Pro)
|
single nucleotide variant |
Pathogenic |
rs199474713
|
GRCh37 |
Chromosome 1, 154148696: 154148696 |
24 |
TPM3
|
NM_152263.3(TPM3): c.505A> G (p.Lys169Glu)
|
single nucleotide variant |
Pathogenic |
rs199474715
|
GRCh37 |
Chromosome 1, 154145445: 154145445 |
25 |
TPM3
|
NM_152263.3(TPM3): c.721G> A (p.Glu241Lys)
|
single nucleotide variant |
Pathogenic |
rs199474717
|
GRCh37 |
Chromosome 1, 154142930: 154142930 |
26 |
TPM3
|
NM_152263.3(TPM3): c.733A> G (p.Arg245Gly)
|
single nucleotide variant |
Pathogenic |
rs199474718
|
GRCh37 |
Chromosome 1, 154142918: 154142918 |
27 |
MYH7
|
NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs397516127
|
GRCh37 |
Chromosome 14, 23896043: 23896043 |
28 |
MYH7
|
NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs3218716
|
GRCh37 |
Chromosome 14, 23894525: 23894525 |
29 |
MYH7
|
NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs397516171
|
GRCh37 |
Chromosome 14, 23893250: 23893250 |
30 |
SELENON
|
NM_020451.2(SELENON): c.872+2T> C
|
single nucleotide variant |
Pathogenic |
rs794727808
|
GRCh37 |
Chromosome 1, 26135643: 26135643 |
31 |
SELENON
|
NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs)
|
duplication |
Pathogenic |
rs368104077
|
GRCh38 |
Chromosome 1, 25808755: 25808755 |
32 |
SELENON
|
NM_020451.2(SELENON): c.943G> A (p.Gly315Ser)
|
single nucleotide variant |
Pathogenic |
rs121908188
|
GRCh37 |
Chromosome 1, 26136244: 26136244 |
33 |
SELENON
|
NM_020451.2(SELENON): c.827_829dupCCT (p.Ala276_Cys277insSer)
|
duplication |
Likely pathogenic |
rs797045950
|
GRCh38 |
Chromosome 1, 25809105: 25809107 |
34 |
SELENON
|
NM_020451.2(SELENON): c.-11_81del92
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 1, 26126711: 26126802 |
35 |
TPM3
|
NM_152263.3(TPM3): c.43G> C (p.Asp15His)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 1, 154164452: 154164452 |
36 |
TPM3
|
NM_152263.3(TPM3): c.758C> A (p.Thr253Lys)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 1, 154142893: 154142893 |