NM_015922.3(NSDHL):c.132T>G (p.Gly44=)
|
rs5969919
|
0.83345
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)
|
rs139186585
|
0.00143
|
NM_015922.3(NSDHL):c.306C>T (p.Phe102=)
|
rs141089248
|
0.00138
|
NM_015922.3(NSDHL):c.834C>T (p.Phe278=)
|
rs149698967
|
0.00057
|
NM_015922.3(NSDHL):c.351T>C (p.Phe117=)
|
rs138711934
|
0.00045
|
NM_015922.3(NSDHL):c.678C>T (p.Phe226=)
|
rs147293409
|
0.00044
|
NM_015922.3(NSDHL):c.*129C>T
|
rs145978994
|
0.00030
|
NM_015922.3(NSDHL):c.987C>T (p.Val329=)
|
rs149122192
|
0.00017
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)
|
rs781879080
|
0.00002
|
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)
|
rs782332983
|
0.00002
|
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)
|
rs782141957
|
0.00002
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
NM_015922.3(NSDHL):c.612C>T (p.Phe204=)
|
rs782252634
|
0.00001
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)
|
rs2125017628
|
|
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)
|
rs797045835
|
|
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)
|
rs137853863
|
|
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)
|
rs142351862
|
|
NM_015922.3(NSDHL):c.1114del (p.Val372fs)
|
rs587784222
|
|
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)
|
rs104894903
|
|
NM_015922.3(NSDHL):c.268-15dup
|
rs782031217
|
|
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)
|
rs104894909
|
|
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)
|
rs1602937895
|
|
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
|
|
|
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
|
|
|
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)
|
rs104894905
|
|
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)
|
rs104894904
|
|
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)
|
rs587784223
|
|
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
|
rs104894901
|
|
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)
|
rs104894902
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)
|
rs141571609
|
|
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)
|
rs587784225
|
|
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)
|
rs587784226
|
|