|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
|
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val)
|
rs80053154
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter)
|
rs776399237
|
0.00001
|
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
|
NC_000017.11:g.68534268_68541798del
|
|
|
|
NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe)
|
rs1387151592
|
|
|
NM_000089.4(COL1A2):c.758G>T (p.Gly253Val)
|
rs72656385
|
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
|
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)
|
rs1229517379
|
|
|
NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys)
|
rs759758484
|
|
|
NM_000888.5(ITGB6):c.1661-3C>G
|
rs1683256077
|
|
|
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter)
|
rs561588576
|
|
|
NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter)
|
rs2150452063
|
|
|
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)
|
rs104893992
|
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
|
NM_001024630.4(RUNX2):c.739del (p.Ser247fs)
|
rs2150407600
|
|
|
NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter)
|
rs758120505
|
|
|
NM_001130144.3(LTBP3):c.1721-2A>G
|
rs2135143557
|
|
|
NM_001130144.3(LTBP3):c.2017G>T (p.Gly673Cys)
|
rs2135141843
|
|
|
NM_001270601.2(ASCL5):c.274G>A (p.Glu92Lys)
|
|
|
|
NM_001372076.1(PAX9):c.112C>T (p.Arg38Ter)
|
|
|
|
NM_001372076.1(PAX9):c.230G>A (p.Arg77Gln)
|
rs1881346298
|
|
|
NM_001372076.1(PAX9):c.59C>T (p.Pro20Leu)
|
rs1555316697
|
|
|
NM_001372076.1(PAX9):c.670G>T (p.Glu224Ter)
|
|
|
|
NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla)
|
rs2145145135
|
|
|
NM_002336.3(LRP6):c.845-1G>A
|
rs2136998055
|
|
|
NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)
|
|
|
|
NM_002615.7(SERPINF1):c.278C>A (p.Ser93Ter)
|
rs369973630
|
|
|
NM_002693.3(POLG):c.3102del (p.Lys1035fs)
|
rs2055358006
|
|
|
NM_004429.5(EFNB1):c.253C>T (p.Gln85Ter)
|
rs2080468871
|
|
|
NM_004655.4(AXIN2):c.2466G>A (p.Trp822Ter)
|
rs2144391343
|
|
|
NM_004655.4(AXIN2):c.584T>C (p.Ile195Thr)
|
rs775069864
|
|
|
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)
|
rs372079931
|
|
|
NM_006129.5(BMP1):c.584dup (p.Gln197fs)
|
rs1828459412
|
|
|
NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr)
|
rs2131855526
|
|
|
NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg)
|
rs2125596197
|
|
|
NM_006371.5(CRTAP):c.62_77del (p.Leu21fs)
|
rs1701308701
|
|
|
NM_013328.4(PYCR2):c.257T>G (p.Val86Gly)
|
rs1671863383
|
|
|
NM_013328.4(PYCR2):c.400G>A (p.Val134Met)
|
rs1671854827
|
|
|
NM_014208.3(DSPP):c.2317del (p.Ser773fs)
|
|
|
|
NM_014208.3(DSPP):c.3555del (p.Asp1185fs)
|
|
|
|
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC
|
rs2143495812
|
|
|
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)
|
rs149970399
|
|
|
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)
|
rs2143526006
|
|
|
NM_020184.4(CNNM4):c.1475G>A (p.Gly492Asp)
|
rs2153349278
|
|
|
NM_020999.4(NEUROG3):c.284G>C (p.Arg95Pro)
|
rs2133227148
|
|
|
NM_020999.4(NEUROG3):c.371C>G (p.Thr124Arg)
|
rs2133227010
|
|
|
NM_021783.5(EDA2R):c.620del (p.Asn207fs)
|
|
|
|
NM_022336.4(EDAR):c.1087_1088insGA (p.Thr363fs)
|
|
|
|
NM_022336.4(EDAR):c.1271T>G (p.Val424Gly)
|
|
|
|
NM_025216.3(WNT10A):c.916_918dup (p.Asn306dup)
|
rs752005843
|
|
|
NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)
|
rs1030214435
|
|
|
NM_152365.3(KDF1):c.727A>C (p.Ile243Leu)
|
|
|