|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00064
|
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
0.00004
|
|
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)
|
rs886041516
|
0.00001
|
|
GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3
|
|
|
|
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
|
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1
|
|
|
|
GRCh37/hg19 17p12(chr17:15133096-15164093)x1
|
|
|
|
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
|
|
|
|
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1
|
|
|
|
GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3
|
|
|
|
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1
|
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1
|
|
|
|
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
|
|
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713
|
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040
|
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
|
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)
|
rs1564405163
|
|
|
NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)
|
|
|
|
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)
|
rs1559174854
|
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
|
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)
|
rs1559174813
|
|
|
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)
|
rs1559164403
|
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
|
NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)
|
rs1559136052
|
|
|
NM_001172509.2(SATB2):c.2018dup (p.His673fs)
|
rs1559136015
|
|
|
NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)
|
rs1559135904
|
|
|
NM_001172509.2(SATB2):c.346+2T>G
|
rs1559052017
|
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
|
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)
|
rs1558995207
|
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
|
NM_001378120.1(MBD5):c.1188del (p.Met396fs)
|
rs2105630210
|
|
|
NM_001378120.1(MBD5):c.150del (p.Thr52fs)
|
rs398122412
|
|
|
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)
|
rs794727928
|
|
|
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)
|
rs886041003
|
|
|
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs)
|
rs796052719
|
|
|
NM_001378414.1(HDAC4):c.602A>G (p.Tyr201Cys)
|
|
|
|
NM_002397.5(MEF2C):c.411del (p.Pro138fs)
|
rs1581753788
|
|
|
NM_002397.5(MEF2C):c.413del (p.Pro138fs)
|
rs1581753587
|
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
|
NM_016628.5(WAC):c.-3T>C
|
rs2132290252
|
|
|
NM_016628.5(WAC):c.1101dup (p.Pro368fs)
|
rs1841061596
|
|
|
NM_016628.5(WAC):c.1424C>G (p.Ser475Ter)
|
rs2132834581
|
|
|
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter)
|
rs1554791943
|
|
|
NM_016628.5(WAC):c.1885_1886del (p.Leu629fs)
|
rs1554792658
|
|
|
NM_016628.5(WAC):c.78+1G>A
|
rs2132295469
|
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
|
NM_024426.6(WT1):c.670A>T (p.Thr224Ser)
|
rs1554945246
|
|
|
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
|
|
|
|
NM_078480.3(PUF60):c.478_479del (p.Met160fs)
|
rs1554643473
|
|
|
NM_078480.3(PUF60):c.503_509del (p.Lys168fs)
|
rs1563825893
|
|
|
Single allele
|
|
|