|
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)
|
rs2234675
|
0.02573
|
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
|
NM_012082.4(ZFPM2):c.40+12C>G
|
rs149902904
|
0.00711
|
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
|
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)
|
rs139881948
|
0.00073
|
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
|
NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala)
|
rs759581394
|
0.00011
|
|
NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys)
|
rs372359356
|
0.00004
|
|
NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly)
|
rs780263938
|
0.00001
|
|
NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val)
|
rs753437773
|
0.00001
|
|
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)
|
rs121908602
|
0.00001
|
|
NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala)
|
rs756636036
|
0.00001
|
|
NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)
|
rs921444831
|
0.00001
|
|
46;X;t(X;10)(p11.2;q24.3)
|
|
|
|
46;XX;t(7;13)(p13;q34)dn
|
|
|
|
46;XY;t(1;6)(p22;q15)dn
|
|
|
|
GRCh38/hg38 8q23.1(chr8:105628485-105634938)
|
|
|
|
NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs)
|
rs864309713
|
|
|
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His)
|
rs1027079885
|
|
|
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg)
|
rs1565295550
|
|
|
NM_001127392.3(MYRF):c.1904-1G>A
|
rs2066445430
|
|
|
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala)
|
rs2066476390
|
|
|
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)
|
rs1382225004
|
|
|
NM_001127392.3(MYRF):c.239dup (p.Gly81fs)
|
rs2066051319
|
|
|
NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser)
|
rs1569084151
|
|
|
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)
|
rs1565977796
|
|
|
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)
|
rs41298151
|
|
|
NM_002430.3(MN1):c.3839del (p.Cys1280fs)
|
rs1601319594
|
|
|
NM_003888.4(ALDH1A2):c.1040G>A (p.Arg347His)
|
|
|
|
NM_003888.4(ALDH1A2):c.1087-1G>T
|
|
|
|
NM_003888.4(ALDH1A2):c.1147G>A (p.Ala383Thr)
|
|
|
|
NM_003888.4(ALDH1A2):c.117+7508dup
|
|
|
|
NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr)
|
|
|
|
NM_003888.4(ALDH1A2):c.544C>A (p.Gln182Lys)
|
|
|
|
NM_003888.4(ALDH1A2):c.833G>A (p.Ser278Asn)
|
|
|
|
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu)
|
rs2147577404
|
|
|
NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu)
|
|
|
|
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)
|
|
|
|
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
|
|
|
|
NM_005032.7(PLS3):c.1848G>A (p.Met616Ile)
|
|
|
|
NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)
|
|
|
|
NM_005032.7(PLS3):c.617C>T (p.Ala206Val)
|
rs2147551760
|
|
|
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)
|
|
|
|
NM_005257.6(GATA6):c.1072del (p.Val358fs)
|
rs1555628863
|
|
|
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)
|
rs387906818
|
|
|
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)
|
rs587777710
|
|
|
NM_006767.4(LZTR1):c.955del (p.Gln319fs)
|
rs1386054181
|
|
|
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)
|
rs536096943
|
|
|
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)
|
rs569356297
|
|
|
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)
|
rs1814012663
|
|
|
NM_012082.4(ZFPM2):c.2164G>C (p.Ala722Pro)
|
|
|
|
NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)
|
rs121908604
|
|
|
NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn)
|
rs763181942
|
|
|
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)
|
|
|
|
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)
|
rs1813907455
|
|
|
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)
|
rs1057518944
|
|
|
NM_207361.5(FREM2):c.[4031G>A];[4558C>T]
|
|
|
|
NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe)
|
rs1555261576
|
|
|
NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del)
|
rs775394591
|
|