NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)
|
rs28374544
|
0.04474
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
NM_005257.6(GATA6):c.592C>G (p.Leu198Val)
|
rs387906814
|
0.00068
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)
|
rs115099192
|
0.00010
|
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)
|
rs387906769
|
0.00004
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
|
rs104893902
|
0.00001
|
GRCh37/hg19 8p23.1(chr8:8403375-11805960)
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)
|
|
|
NC_012920.1(MT-CO1):m.5954del
|
rs1569484042
|
|
NC_012920.1(MT-CO1):m.6902del
|
rs1569484122
|
|
NC_012920.1(MT-CO1):m.6927del
|
rs1569484124
|
|
NC_012920.1(MT-CO1):m.6941del
|
rs1569484126
|
|
NC_012920.1(MT-CO2):m.7639del
|
rs1569484164
|
|
NC_012920.1:m.9273_9274insATC
|
rs1569484288
|
|
NC_012920.1:m.9429_9430insCCC
|
rs1569484299
|
|
NC_012920.1:m.9441_9442insTTT
|
rs1569484301
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000214.3(JAG1):c.228del (p.Val77fs)
|
rs2067506937
|
|
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)
|
rs2067268275
|
|
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)
|
rs28939668
|
|
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)
|
rs1182566703
|
|
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
rs746335599
|
|
NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)
|
|
|
NM_004387.4(NKX2-5):c.439del (p.Gln147fs)
|
rs1761360431
|
|
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)
|
rs104893905
|
|
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter)
|
rs2033033528
|
|
NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp)
|
rs774966208
|
|