|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
|
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)
|
|
|
|
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)
|
|
|
|
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)
|
rs63750687
|
|
|
NM_000053.3(ATP7B):c.[2950C>G];[3809A>G]
|
|
|
|
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
|
|
|
|
NM_000087.3(CNGA1):c.[652C>T];[959C>T]
|
|
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
|
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)
|
rs193922348
|
|
|
NM_000255.3(MMUT):c.[1891delG];[322C>T]
|
|
|
|
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
|
|
|
|
NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]
|
|
|
|
NM_000404.3(GLB1):c.[245C>T];[367G>A]
|
|
|
|
NM_000419.4(ITGA2B):c.[1787T>C];[439C>G]
|
|
|
|
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
|
|
|
|
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)
|
rs122445101
|
|
|
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586
|
|
|
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)
|
rs387906636
|
|
|
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)
|
rs797046035
|
|
|
NM_001197104.2(KMT2A):c.10334dup (p.Ser3446fs)
|
rs863224888
|
|
|
NM_001197104.2(KMT2A):c.3651dup (p.Lys1218fs)
|
rs863224887
|
|
|
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs)
|
rs797044522
|
|
|
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter)
|
rs797044520
|
|
|
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter)
|
rs797044519
|
|
|
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs)
|
rs797044523
|
|
|
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)
|
rs797044521
|
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
|
NM_001367721.1(CASK):c.2318-2A>G
|
rs863224854
|
|
|
NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter)
|
rs863224890
|
|
|
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)
|
rs587784327
|
|
|
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
|
|
|
|
NM_004750.5(CRLF1):c.713dup (p.Pro239fs)
|
rs768727082
|
|
|
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp)
|
rs863224904
|
|
|
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter)
|
rs775441984
|
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
|
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)
|
rs786200961
|
|
|
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
|
rs786200960
|
|
|
NM_006772.3(SYNGAP1):c.896del (p.Arg299fs)
|
rs863224930
|
|
|
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp)
|
rs387906758
|
|
|
NM_016169.4(SUFU):c.111del (p.Tyr38fs)
|
rs863224925
|
|
|
NM_017780.4(CHD7):c.5199dup (p.His1734fs)
|
rs863224856
|
|
|
NM_018972.2(GDAP1):c.[347T>C];[62delA]
|
|
|
|
NM_019098.4(CNGB3):c.[1193A>G];[1208G>A]
|
|
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
|
NM_025000.4(DCAF17):c.289dup (p.Ile97fs)
|
rs863224865
|
|
|
NM_032638.5(GATA2):c.1122_1125dup (p.Tyr376fs)
|
rs863224874
|
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
|
NM_145199.2(LIPT1):c.[806G>A];[980T>G]
|
|
|
|
NM_170707.4(LMNA):c.810+1G>C
|
rs267607632
|
|
|
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp)
|
rs794727813
|
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
|
NM_201548.4(CERKL):c.[674A>T];[769C>T]
|
|
|