|
NM_001352754.2(ARMC9):c.636G>C (p.Gln212His)
|
rs201590882
|
0.00015
|
|
NM_005215.4(DCC):c.2260G>A (p.Val754Met)
|
rs775565634
|
0.00008
|
|
NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr)
|
rs763701580
|
0.00006
|
|
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)
|
rs782785654
|
0.00005
|
|
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)
|
rs1289349820
|
0.00001
|
|
NM_001286577.2(C2CD3):c.917T>C (p.Leu306Pro)
|
rs762278054
|
0.00001
|
|
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)
|
rs1582940678
|
0.00001
|
|
46;XY;t(1;3)(p22;q21)dn
|
|
|
|
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
|
|
|
|
GRCh37/hg19 1q43-44(chr1:240554955-247342593)
|
|
|
|
GRCh37/hg19 2q24.3(chr2:165903672-166666206)
|
|
|
|
GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)
|
|
|
|
GRCh37/hg19 Xp22.33(chrX:61091-787353)
|
|
|
|
NM_000381.4(MID1):c.1765A>G (p.Asn589Asp)
|
rs1556001939
|
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
|
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)
|
rs1555380716
|
|
|
NM_001374828.1(ARID1B):c.1637_1638del (p.Ala546fs)
|
rs2115002258
|
|
|
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)
|
rs1057518951
|
|
|
NM_001376.5(DYNC1H1):c.13047GGA[1] (p.Glu4350del)
|
rs1555412533
|
|
|
NM_001429.4(EP300):c.2027G>C (p.Gly676Ala)
|
rs1555908795
|
|
|
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn)
|
rs1599017933
|
|
|
NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn)
|
rs1599011050
|
|
|
NM_001792.5(CDH2):c.1789G>T (p.Asp597Tyr)
|
rs1599011050
|
|
|
NM_001792.5(CDH2):c.1802A>C (p.Asn601Thr)
|
rs201775968
|
|
|
NM_001792.5(CDH2):c.1839C>G (p.Cys613Trp)
|
rs754880999
|
|
|
NM_001792.5(CDH2):c.1880A>G (p.Asp627Gly)
|
rs1599010918
|
|
|
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)
|
rs199984052
|
|
|
NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs)
|
rs1598982488
|
|
|
NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs)
|
rs1598982483
|
|
|
NM_001845.6(COL4A1):c.388-1G>C
|
rs766209938
|
|
|
NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)
|
rs1653248260
|
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
|
NM_005215.3:c.[3649A>G;3748G>A]
|
|
|
|
NM_005215.4(DCC):c.1790G>C (p.Arg597Pro)
|
rs1057519056
|
|
|
NM_005215.4(DCC):c.2227A>T (p.Met743Leu)
|
rs199651452
|
|
|
NM_005215.4(DCC):c.2378T>G (p.Val793Gly)
|
rs1057519054
|
|
|
NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)
|
rs1057519055
|
|
|
NM_005215.4(DCC):c.2677G>A (p.Ala893Thr)
|
rs1057519057
|
|
|
NM_005215.4(DCC):c.823C>T (p.Arg275Ter)
|
rs754914260
|
|
|
NM_005215.4(DCC):c.925del (p.Thr309fs)
|
rs1057519053
|
|
|
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)
|
rs797045005
|
|
|
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)
|
rs1565627707
|
|
|
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)
|
rs1057517858
|
|
|
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)
|
rs1553820694
|
|
|
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)
|
rs1569234334
|
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
|
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)
|
rs1563183469
|
|
|
NM_017412.4(FZD3):c.1616dup (p.Asp539fs)
|
rs1563406024
|
|
|
NM_018249.5(CDK5RAP2):c.[280G>C];[3695A>G]
|
|
|
|
NM_022893.4(BCL11A):c.295del (p.Val99fs)
|
rs1558519119
|
|
|
NM_058169.6(BORCS5):c.203-1G>T
|
rs1555155556
|
|
|
NM_139058.3(ARX):c.994C>T (p.Arg332Cys)
|
rs2147323593
|
|