|
V0002 |
Small Variation |
MYOCD |
NM_001146312.2:c.776A>G |
NA: NA |
|
V0050 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
NA: NA |
|
V0122 |
Small Variation |
CHD7 |
NM_017780.4:c.2699+34G>A |
NA: NA |
|
V0123 |
Small Variation |
CHD7 |
NM_017780.4:c.3272+39G>A |
NA: NA |
|
V0124 |
Small Variation |
CHD7 |
NM_017780.4:c.3991+127A>G |
NA: NA |
|
V0125 |
Small Variation |
CHD7 |
NM_017780.4:c.4235+21T>G |
NA: NA |
|
V0126 |
Small Variation |
CHD7 |
NM_017780.4:c.4236-5T>C |
NA: NA |
|
V0127 |
Small Variation |
CHD7 |
NM_017780.4:c.4557-35C>G |
NA: NA |
|
V0128 |
Small Variation |
CHD7 |
NM_017780.4:c5023+51C>A |
NA: NA |
|
V0140 |
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
NA: NA |
|
V0141 |
Small Variation |
MIR149 |
NR_029702.1:n.86T>C |
NA: NA |
|
V0142 |
Small Variation |
MIR499A |
NR_030223.1:n.73A>G |
NA: NA |
|
V0144 |
Small Variation |
MIR196A2 |
NR_029617.1:n.78C>T |
NA: NA |
|
V0155 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.453A>G |
NA: NA |
|
V0156 |
Small Variation |
ALDH1A2 |
NC_000015.10:g.58014104G>A |
NA: NA |
|
V0157 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.160-422G>A |
NA: NA |
|
V0158 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.25-422G>C |
NA: NA |
|
V0159 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.116+613G>T |
NA: NA |
|
V0160 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.92+742_92+743InsA |
NA: NA |
|
V0161 |
Small Variation |
ALDH1A2 |
NC_000015.10:g.57965649C>T |
NA: NA |
|
V0173 |
Small Variation |
GATA4 |
NM_002052.5:c.270C>A |
NA: NA |
|
V0174 |
Small Variation |
GATA4 |
NM_002052.5:c.285C>G |
NA: NA |
|
V0175 |
Small Variation |
GATA4 |
NM_002052.5:c.987G>T |
NA: NA |
|
V0176 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
NA: NA |
|
V0185 |
Small Variation |
GATA6 |
NM_005257.5:c.222G>A |
NA: NA |
|
V0186 |
Small Variation |
GATA6 |
NM_005257.5:c.768G>T |
NA: NA |
|
V0187 |
Small Variation |
GATA6 |
NM_005257.5:c.855G>T |
NA: NA |
|
V0188 |
Small Variation |
GATA6 |
NM_005257.5:c.43G>C |
NA: NA |
|
V0198 |
Small Variation |
TMEM121 |
NC_000014.9:g.105529715_105529717dupGCC |
NA: NA |
|
V0210 |
Small Variation |
HAND2 |
NM_021973.3:c.-101delG |
NA: NA |
|
V0211 |
Small Variation |
HAND2 |
NM_021973.3:c.153C>G |
NA: NA |
|
V0212 |
Small Variation |
HAND2 |
NM_021973.3:c.*608G>A |
NA: NA |
|
V0213 |
Small Variation |
HAND2 |
NM_021973.3:c.3236A>G |
NA: NA |
|
V0214 |
Small Variation |
HAND2 |
NM_021973.3:c.*1273_*1274insT |
NA: NA |
|
V0547 |
Small Variation |
MTR |
NM_000254.2:c.-472G>T |
NA: NA |
|
V0548 |
Small Variation |
MTR |
NM_000254.2:c.*905G>A |
NA: NA |
|
V0664 |
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V0665 |
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V0720 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
NA: NA |
|
V0737 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
NA: NA |
|
V0738 |
Small Variation |
NOS3 |
NM_000603.5:c.-51-762C>T |
NA: NA |
|
V0739 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
NA: NA |
|
V1123 |
Small Variation |
NPPB |
NC_000001.11:g.11857283C>T |
NA: NA |
|
V1124 |
Small Variation |
NPPB |
NC_000001.11:g.11859214A>G |
NA: NA |
|
V1221 |
Small Variation |
RNF41 |
NM_005785.4:c.206T>A |
NA: NA |
|
V1222 |
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
NA: NA |
|
V1223 |
Small Variation |
BMP2 |
NM_001200.4:c.570A>T |
NA: NA |
|
V1224 |
Small Variation |
BMP4 |
NM_001202.6:c.455T>C |
NA: NA |
|
V1259 |
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
NA: NA |
|
V1260 |
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
NA: NA |
|
V1262 |
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
NA: NA |
|
V1264 |
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
NA: NA |
|
V1430 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: NA |
|
V1503 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
NA: NA |
|
V1504 |
Small Variation |
NOS3 |
NM_000603.5:c.-51-762C>T |
NA: NA |
|
V1505 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
NA: NA |
|
V1506 |
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
NA: NA |
|
V1509 |
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
NA: NA |
|
V1512 |
Small Variation |
ISL1 |
NC_000005.10:g.[51405268C>T;51363954G>A;51370784A>G] |
NA: NA |
|
V1516 |
Small Variation |
ISL1 |
NC_000005.10:g.51367400C>T |
NA: NA |
|
V1519 |
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
NA: NA |
|
V1522 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
NA: NA |
|
V1525 |
Small Variation |
ISL1 |
NC_000005.10:g.51405268C>T |
NA: NA |
|
V1528 |
Small Variation |
ISL1 |
NC_000005.10:g.51363954G>A |
NA: NA |
|
V1531 |
Small Variation |
ISL1 |
NC_000005.10:g.51370784A>G |
NA: NA |
|
V1534 |
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V1538 |
Small Variation |
MTR |
NM_000254.2:c.-472G>T |
NA: NA |
|
V1539 |
Small Variation |
MTR |
NM_000254.2:c.*905G>A |
NA: NA |
|
V1567 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
NA: NA |
|
V1568 |
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
NA: NA |
|
V1569 |
Small Variation |
MIR149 |
NR_029702.1:n.86T>C |
NA: NA |
|
V1570 |
Small Variation |
MIR499A |
NR_030223.1:n.73A>G |
NA: NA |
|
V1571 |
Small Variation |
MIR196A2 |
NR_029617.1:n.78C>T |
NA: NA |
|
V1572 |
Small Variation |
MIR499A |
NR_030223.1:c.73A>G |
NA: NA |
|
V1573 |
Small Variation |
MIR196A2 |
NR_029617.1:n.78C>T |
NA: NA |
|
V1580 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
NA: NA |
|
V1620 |
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
NA: NA |
|
V1621 |
Small Variation |
BMP2 |
NM_001200.4:c.570A>T |
NA: NA |
|
V1622 |
Small Variation |
BMP4 |
NM_001202.6:c.455T>C |
NA: NA |
|
V1623 |
Small Variation |
RNF41 |
NM_005785.4:c.206T>A |
NA: NA |
|
V1630 |
Small Variation |
NPPB |
NC_000001.11:g.11857283C>T |
NA: NA |
|
V1631 |
Small Variation |
NPPB |
NC_000001.11:g.11859214A>G |
NA: NA |
|
V1680 |
Small Variation |
TMEM121 |
NC_000014.9:g.105529715_105529717dupGCC |
NA: NA |
|
V1692 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: NA |
|
M0013 |
Methylation |
MTR |
Methylation of MTR |
NA: NA |
|
M0014 |
Methylation |
MTR |
Methylation of MTR |
NA: NA |