Gene symbol | Chromosome | Reference position | AA exchange | Reference allele | Variant allele | Confirmed by sanger sequencing | Huvariome alleles | Known pathological variant | Gene strand | HGMD |
---|---|---|---|---|---|---|---|---|---|---|
LMNA | 1 | 154372340 | R>Stop | C | T | Yes | C/C | R321ter | + | Cardiomyopathy,_dilated|961C>T |
TNNT2 | 1 | 199599130 | E163fs | C | -- | No | C/C | Â | -- | Cardiomyopathy,_hypertrophic|487G>A |
SMYD2 | 1 | 212558105 | H>Y | C | T | Yes | C/C | Â | Â | Â |
DSP | 6 | 7525794 | R>G | C | G | No | C/C | Â | Â | Arrhythmogenic_right_ventricular_dysplasia/ cardiomyopathy|4372C>G |
TMEM2 | 9 | 73505380 | T>T | C | T | Yes | C/C | Â | Â | Â |
ILK | 11 | 6585971 | P>L | C | T | No | C/C | Â | Â | Cardiomyopathy,_dilated|209C>T |
MYBPC3 | 11 | 47324447 | R>Q | C | T | Yes | C/C | R326Q | -- | Cardiomyopathy,_hypertrophic|977G>A |
MYBPC3 | 11 | 47313209-47313210 | P955fs | CT | -- | Yes | AG/AG | P955fs | Â | Cardiomyopathy,_hypertrophic|2864_2865delCT |
MYBPC3 | 11 | 47321263-47321264 | F412fs | TT | -- | Yes | AA/AA | F412fs | Â | Cardiomyopathy,_hypertrophic|1235_1236delTT |
MYH7 | 14 | 22963165 | C905fs | G | -- | No | A/A | Â | Â | Â |
MYH7 | 14 | 22968054 | R>C | G | A | Yes | G/G | R453C | -- | Cardiomyopathy,_hypertrophic|1357C>A |
MYH7 | 14 | 22971706 | Y>H | A | G | Yes | A/A | Â | Â | Cardiomyopathy,_hypertrophic|484T>C |
MYH7 | 14 | 22971762 | R>Q | C | T | Yes | C/C | R143Q | -- | Cardiomyopathy,_hypertrophic|428G>A |