|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
|
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)
|
rs28937869
|
0.00009
|
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
|
NM_000053.4(ATP7B):c.1947-19T>A
|
rs1593733949
|
|
|
NM_000314.8(PTEN):c.1110_1111dup (p.Asp371fs)
|
rs2132289747
|
|
|
NM_000314.8(PTEN):c.255_262delinsC (p.Ala86fs)
|
rs2132241980
|
|
|
NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup)
|
rs878854345
|
|
|
NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup)
|
rs775525473
|
|
|
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)
|
rs1064795760
|
|
|
NM_001083619.3(GRIA2):c.1589A>T (p.Lys530Met)
|
rs2126940142
|
|
|
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg)
|
rs1577888561
|
|
|
NM_001265.6(CDX2):c.722A>G (p.Glu241Gly)
|
|
|
|
NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter)
|
rs2114887942
|
|
|
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del)
|
rs1470699812
|
|
|
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)
|
rs727502902
|
|
|
NM_004595.5(SMS):c.388C>T (p.Arg130Cys)
|
rs1602210346
|
|
|
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter)
|
rs1064795638
|
|
|
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs)
|
rs1602338615
|
|
|
NM_006060.6(IKZF1):c.499C>T (p.His167Tyr)
|
|
|
|
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg)
|
rs1370937766
|
|
|
NM_013247.5(HTRA2):c.1037A>T (p.Glu346Val)
|
|
|
|
NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu)
|
|
|
|
NM_016120.4(RLIM):c.1729T>C (p.Tyr577His)
|
rs1569309484
|
|
|
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu)
|
rs1025711998
|
|
|
NM_020791.4(TAOK1):c.2203del (p.Arg735fs)
|
rs2150772064
|
|
|
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
|
|
|
|
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)
|
rs756408696
|
|
|
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs)
|
rs1569308524
|
|