1 Core list Cardiomyopathie v1 (2015-02-27)
gen | ref seq | sequentie analyse | CNV analyse | repeatexpansie analyse | opmerkingen |
ACTC1 | NM_005159.4 | ja | nee | nvt | |
ACTN2 | NM_001103.2 | ja | nee | nvt | |
ANKRD1 | NM_014391.2 | ja | nee | nvt | |
BAG3 | NM_004281.3 | ja | nee | nvt | |
CALR3 | NM_145046.3 | ja | nee | nvt | |
CAV3 | NM_033337.3 | ja | nee | nvt | |
CRYAB | NM_001885.1 | ja | nee | nvt | |
CSRP3 | NM_003476.3 | ja | nee | nvt | |
CTNNA3 | NM_013266.2 | ja | nee | nvt | |
DES | NM_001927.3 | ja | nee | nvt | |
DSC2 | NM_024422.3, NM_004949.3 | ja | nee | nvt | |
DSG2 | NM_001943.3 | ja | nee | nvt | |
DSP | NM_004415.2 | ja | nee | nvt | |
EMD (STA) | NM_000117.2 | ja | nee | nvt | |
FHL1 | NM_001159702.2, NM_001159701.1, NM_001159699.1 | ja | nee | nvt | |
GLA | NM_000169.2 | ja | nee | nvt | |
JPH2 | NM_020433.4, NM_175913.3 | ja | nee | nvt | |
JUP | NM_021991.2 | ja | nee | nvt | |
LAMA4 | NM_001105206.1, NM_001105208.1 | ja | nee | nvt | |
LAMP2 | NM_002294.2, NM_013995.2, NM_001122606.1 | ja | nee | nvt | |
LDB3 | NM_007078.2; NM_001080116.1 | ja | nee | nvt | |
LMNA | NM_170707.3; NM_001257374.1; NM_005572.3 | ja | nee | nvt | |
MIB1 | NM_020774.2 | ja | nee | nvt | |
MYBPC3 | NM_000256.3 | ja | nee | nvt | |
MYH6 | NM_002471.3 | ja | nee | nvt | |
MYH7 | NM_000257.2 | ja | nee | nvt | |
MYL2 | NM_000432.3 | ja | nee | nvt | |
MYL3 | NM_000258.2 | ja | nee | nvt | |
MYOZ2 | NM_016599.3 | ja | nee | nvt | |
MYPN | NM_032578.2 | ja | nee | nvt | |
NEXN | NM_144573.3 | ja | nee | nvt | |
PKP2 | NM_004572.3 | ja | nee | nvt | |
PLN | NM_002667.3 | ja | nee | nvt | |
PRKAG2 | NM_016203.3 | ja | nee | nvt | |
RBM20 | NM_001134363.1 | ja | nee | nvt | |
SCN5A | NM_198056.2 + NM_001160160.1 | ja | nee | nvt | |
TAZ | NM_000116.3 | ja | nee | nvt | |
TCAP | NM_003673.3 | ja | nee | nvt | |
TMEM43 | NM_024334.2 | ja | nee | nvt | |
TNNC1 | NM_003280.2 | ja | nee | nvt | |
TNNI3 | NM_000363.4 | ja | nee | nvt | |
TNNT2 | NM_000364.2; NM_001001430.1 | ja | nee | nvt | |
TPM1 | NM_000366.5, NM_001018005.1, NM_001018020.1 | ja | nee | nvt | |
TTR | NM_000371.3 | ja | nee | nvt | |
VCL | NM_014000.2 | ja | nee | nvt |