Gene symbol | Chromosome | Reference position | Reference allele | Variant allele | Confirmed by sanger sequencing | Huvariome alleles | dbSNP ID |
---|---|---|---|---|---|---|---|
LMNA | 1 | 154372809 | T | C | Yes | T/C | dbsnp.83:rs505058 |
SMYD2 | 1 | 212558909 | G | A | Yes | G/A | dbsnp.86:rs1134647 |
TTN | 2 | 179163877 | G | A | Yes | G/A | dbsnp.130:rs72646845 |
TTN | 2 | 179170739 | A | G | Yes | A/G | dbsnp.126:rs35833641 |
TTN | 2 | 179329196 | C | T | Yes | C/T | dbsnp.116:rs7585334 |
TTN | 2 | 179337706 | C | T | Yes | C/T | dbsnp.100:rs2291311 |
TTN | 2 | 179352280 | G | A | Yes | G/A | dbsnp.88:rs1552280 |
HDAC2 | 6 | 114372280 | C | T | Yes | T/C | dbsnp.121:rs13204445 |
TMEM2 | 9 | 73549916 | C | T | Yes | C/T | dbsnp.72:rs25689 |
TMEM2 | 9 | 73550029 | C | G | Yes | G/C | dbsnp.107:rs3739783 |
MYPN | 10 | 69603927 | G | A | No | G/A | dbsnp.120:rs10997975 |
LDB3 | 10 | 88483707 | A | T | Yes | A/T | dbsnp.127:rs45567939 |
TRAF6 | 11 | 36473064 | T | C | Yes | T/C* | Â |
MYBPC3 | 11 | 47326019 | G | A | Yes | G/A | dbsnp.120:rs11570058 |
MYBPC3 | 11 | 47326617 | T | C | Yes | T/C | dbsnp.107:rs3729989 |
MYH6 | 14 | 22931651 | A | G | Yes | A/G | dbsnp.80:rs365990 |
MYH7 | 14 | 22968900 | G | A | No | G/A | dbsnp.86:rs735712 |
DICER1 | 14 | 94626500 | A | T | Yes | A/T | dbsnp.52:rs13078 |
ACTC1 | 15 | 32868460 | G | C | Yes | G/C | dbsnp.116:rs8037241 |
TPM1 | 15 | 61138893 | C | A | Yes | C/A | dbsnp.86:rs1071646 |
TCAP1 | 17 | 35075837 | A | C | Yes | A/C | dbsnp.86:rs1053651 |
DSC2 | 18 | 26903040 | T | C | Yes | T/C** | Â |
DSG2 | 18 | 27365107 | G | A | Yes | G/A | Â |
DSG2 | 18 | 27376616 | G | A | Yes | G/A | Â |
TNNI3 | 19 | 60357396 | A | C | Yes | A/C | dbsnp.116:rs7252610 |
PARVB | 22 | 42726784 | T | C | Yes | T/C | dbsnp.86:rs1007863 |
PARVB | 22 | 42821201 | T | C | Yes | T/C | dbsnp.92:rs1983609 |
PARVB | 22 | 42821229 | T | C | Yes | T/C | dbsnp.86:rs738479 |
DMD | X | 31406271 | C | T | Yes | C/T | dbsnp.89:rs1800280 |
DMD | X | 32413115 | T | C | Yes | T/C | dbsnp.79:rs228406 |