|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
|
NM_015599.3(PGM3):c.1612C>A (p.Pro538Thr)
|
rs143654268
|
0.00019
|
|
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
|
rs199931785
|
0.00004
|
|
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)
|
rs199693280
|
0.00002
|
|
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser)
|
rs201821194
|
0.00002
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
|
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter)
|
rs758210528
|
0.00001
|
|
NM_001013838.3(CARMIL2):c.926T>C (p.Leu309Pro)
|
rs758192470
|
0.00001
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
|
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)
|
rs4029402
|
|
|
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg)
|
rs2145455455
|
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
|
NM_001167.4(XIAP):c.985del (p.Tyr329fs)
|
|
|
|
NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)
|
|
|
|
NM_003183.6(ADAM17):c.2390del (p.Asp797fs)
|
rs2124947949
|
|
|
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)
|
rs1398817791
|
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
|
NM_006785.4(MALT1):c.692T>C (p.Val231Ala)
|
|
|
|
NM_022168.4(IFIH1):c.2730C>A (p.Cys910Ter)
|
|
|
|
NM_206937.2(LIG4):c.613del (p.Ser205fs)
|
rs780879476
|
|