NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000506.5(F2):c.*97G>A
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rs1799963
|
0.00979
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
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rs146722795
|
0.00506
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)
|
rs201373953
|
0.00032
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)
|
rs587780752
|
0.00003
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_000271.5(NPC1):c.1947+4A>G
|
rs577147812
|
0.00001
|
NM_001048174.2(MUTYH):c.1031C>G (p.Ser344Cys)
|
rs763862261
|
0.00001
|
NM_001048174.2(MUTYH):c.36C>T (p.His12=)
|
rs776396492
|
0.00001
|
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)
|
rs767294741
|
0.00001
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000271.5(NPC1):c.1947+2T>G
|
rs764472245
|
|
NM_000271.5(NPC1):c.1947+6_1947+7del
|
rs2058767020
|
|
NM_000297.4(PKD2):c.670del (p.Leu224fs)
|
rs1553924173
|
|
NM_001009944.2(PKD1):c.8017-?_8161+?dup
|
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001048174.2(MUTYH):c.116-55C>T
|
rs1316542179
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1393-51_*2del
|
|
|
NM_002485.5(NBN):c.2071-1175_2184+2del
|
|
|
NM_002485.5(NBN):c.804G>T (p.Thr268=)
|
rs141443872
|
|
Single allele
|
|
|