NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
NM_078480.3(PUF60):c.297+9C>T
|
rs1028726810
|
0.00004
|
NM_000501.4(ELN):c.134-16T>C
|
rs782791376
|
0.00001
|
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
|
rs782205353
|
0.00001
|
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys)
|
rs1553242966
|
0.00001
|
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)
|
rs1205547665
|
0.00001
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
|
rs1794880739
|
|
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)
|
rs1832698457
|
|
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg)
|
rs1716385543
|
|
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)
|
rs1665711818
|
|
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)
|
rs1692192971
|
|
NM_001172509.2(SATB2):c.700+17G>A
|
rs1689356095
|
|
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter)
|
rs1688736712
|
|
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu)
|
rs1574645369
|
|
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp)
|
rs1681469923
|
|
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser)
|
rs1681472341
|
|
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)
|
rs1029755113
|
|
NM_002397.5(MEF2C):c.965-2A>G
|
rs1759968705
|
|
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
|
rs2086667654
|
|
NM_006940.6(SOX5):c.482-2A>C
|
rs1057518845
|
|
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu)
|
rs1711880083
|
|
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu)
|
rs1762710997
|
|
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr)
|
rs2095343853
|
|
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)
|
rs1763344725
|
|
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)
|
rs1765615038
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)
|
rs1060501493
|
|
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe)
|
rs1319472971
|
|
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu)
|
rs1756273326
|
|
NM_144997.7(FLCN):c.49dup (p.Arg17fs)
|
rs758385503
|
|