1 |
EP300 |
NM_001429.4(EP300):c.1453del (p.Gln485fs) |
DEL |
Pathogenic
|
813528 |
rs2058919680 |
GRCh37: 22:41527559-41527559 GRCh38: 22:41131555-41131555 |
2 |
SLC2A1 |
NM_006516.4(SLC2A1):c.470dup (p.Thr158fs) |
DUP |
Pathogenic
|
373993 |
rs1057518821 |
GRCh37: 1:43396342-43396343 GRCh38: 1:42930671-42930672 |
3 |
FLG-AS1, FLG |
NM_002016.2(FLG):c.544A>T (p.Lys182Ter) |
SNV |
Pathogenic
|
523448 |
rs1218912272 |
GRCh37: 1:152286818-152286818 GRCh38: 1:152314342-152314342 |
4 |
overlap with 25 genes |
GRCh37/hg19 7q11.23(chr7:72772522-74133319) |
CN LOSS |
Pathogenic
|
523284 |
|
GRCh37: 7:72772522-74133319 GRCh38: |
5 |
KCNJ10 |
NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) |
SNV |
Pathogenic
|
7462 |
rs137853066 |
GRCh37: 1:160012129-160012129 GRCh38: 1:160042339-160042339 |
6 |
CDK5RAP2 |
NM_018249.6(CDK5RAP2):c.250C>T (p.Leu84Phe) |
SNV |
Pathogenic
|
812994 |
rs1588634016 |
GRCh37: 9:123313126-123313126 GRCh38: 9:120550848-120550848 |
7 |
DDX3X |
NM_001356.5(DDX3X):c.1746del (p.Ser583fs) |
DEL |
Pathogenic
|
870099 |
rs2063933817 |
GRCh37: X:41206242-41206242 GRCh38: X:41346989-41346989 |
8 |
GRM7 |
NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys) |
SNV |
Pathogenic
|
870348 |
rs1697820592 |
GRCh37: 3:7494299-7494299 GRCh38: 3:7452612-7452612 |
9 |
TCF4 |
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter) |
SNV |
Pathogenic
|
813521 |
rs1555710223 |
GRCh37: 18:52896144-52896144 GRCh38: 18:55228913-55228913 |
10 |
ASXL1 |
NM_015338.6(ASXL1):c.3115C>T (p.Gln1039Ter) |
SNV |
Pathogenic
|
813522 |
rs1221031683 |
GRCh37: 20:31023630-31023630 GRCh38: 20:32435827-32435827 |
11 |
AUTS2 |
GRCh37/hg19 7q11.22(chr7:69404786-70206198) |
CN LOSS |
Pathogenic
|
813714 |
|
GRCh37: 7:69404786-70206198 GRCh38: |
12 |
overlap with 4 genes |
GRCh37/hg19 2q24.3(chr2:166340583-166904859) |
CN LOSS |
Pathogenic
|
813715 |
|
GRCh37: 2:166340583-166904859 GRCh38: |
13 |
overlap with 90 genes |
GRCh37/hg19 9q34.3(chr9:138225001-141015001) |
CN LOSS |
Pathogenic
|
813716 |
|
GRCh37: 9:138225001-141015001 GRCh38: |
14 |
ARID1B |
GRCh37/hg19 6q25.3(chr6:157075546-157443054) |
CN GAIN |
Pathogenic
|
813718 |
|
GRCh37: 6:157075546-157443054 GRCh38: |
15 |
overlap with 8 genes |
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) |
CN LOSS |
Pathogenic
|
813719 |
|
GRCh37: X:41150139-43976458 GRCh38: |
16 |
overlap with 2 genes |
GRCh37/hg19 2q23.1(chr2:148710290-149021799) |
CN LOSS |
Pathogenic
|
813720 |
|
GRCh37: 2:148710290-149021799 GRCh38: |
17 |
KMT2A |
NM_001197104.2(KMT2A):c.2552_2553del (p.Lys851fs) |
DEL |
Pathogenic
|
813524 |
rs1949984655 |
GRCh37: 11:118344425-118344426 GRCh38: 11:118473710-118473711 |
18 |
NUF2 |
NM_145697.3(NUF2):c.371T>G (p.Ile124Ser) |
SNV |
Pathogenic
|
992629 |
rs1650773164 |
GRCh37: 1:163306574-163306574 GRCh38: 1:163336784-163336784 |
19 |
overlap with 15 genes |
GRCh37/hg19 5q31.2(chr5:136409875-137739167) |
CN LOSS |
Pathogenic
|
1047869 |
|
GRCh37: 5:136409875-137739167 GRCh38: |
20 |
overlap with 37 genes |
GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) |
CN LOSS |
Pathogenic
|
1047873 |
|
GRCh37: 7:116297277-126370694 GRCh38: |
21 |
overlap with 33 genes |
GRCh37/hg19 1q43-44(chr1:240554955-247342593) |
CN LOSS |
Pathogenic
|
1047876 |
|
GRCh37: 1:240554955-247342593 GRCh38: |
22 |
overlap with 6 genes |
GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936) |
CN LOSS |
Pathogenic
|
1047878 |
|
GRCh37: X:41342834-43901936 GRCh38: |
23 |
CASK and overlap with 2 gene(s) |
GRCh37/hg19 Xp11.4(chrX:41553564-41696352) |
CN LOSS |
Pathogenic
|
1047884 |
|
GRCh37: X:41553564-41696352 GRCh38: |
24 |
overlap with 16 genes |
GRCh37/hg19 12p13.32(chr12:3619010-5221363) |
CN LOSS |
Pathogenic
|
1047901 |
|
GRCh37: 12:3619010-5221363 GRCh38: |
25 |
ASPM |
NM_018136.5(ASPM):c.727C>T (p.Arg243Ter) |
SNV |
Pathogenic
|
1172591 |
|
GRCh37: 1:197112655-197112655 GRCh38: 1:197143525-197143525 |
26 |
ABL1 |
NM_005157.6(ABL1):c.1517T>C (p.Val506Ala) |
SNV |
Pathogenic
|
983212 |
rs1831432776 |
GRCh37: 9:133755890-133755890 GRCh38: 9:130880503-130880503 |
27 |
KIF11 |
NM_004523.4(KIF11):c.2922G>T (p.Pro974=) |
SNV |
Pathogenic
|
1064447 |
|
GRCh37: 10:94409743-94409743 GRCh38: 10:92649986-92649986 |
28 |
overlap with 65 genes |
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 |
CN GAIN |
Pathogenic
|
1330165 |
|
GRCh37: 3:142729607-157921084 GRCh38: |
29 |
PPFIBP1 |
NM_003622.4(PPFIBP1):c.1146+1G>A |
SNV |
Pathogenic
|
1679175 |
|
GRCh37: 12:27820254-27820254 GRCh38: 12:27667321-27667321 |
30 |
PPFIBP1 |
NM_003622.4(PPFIBP1):c.1417_1427del (p.Ala473fs) |
DEL |
Pathogenic
|
1679181 |
|
GRCh37: 12:27829363-27829373 GRCh38: 12:27676430-27676440 |
31 |
PPFIBP1 |
NM_003622.4(PPFIBP1):c.1300C>T (p.Gln434Ter) |
SNV |
Pathogenic
|
1679182 |
|
GRCh37: 12:27825397-27825397 GRCh38: 12:27672464-27672464 |
32 |
PPFIBP1 |
NM_003622.4(PPFIBP1):c.2629C>T (p.Arg877Ter) |
SNV |
Pathogenic
|
1679183 |
|
GRCh37: 12:27842080-27842080 GRCh38: 12:27689147-27689147 |
33 |
COL7A1 |
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) |
SNV |
Pathogenic
|
17462 |
rs121912854 |
GRCh37: 3:48630348-48630348 GRCh38: 3:48592915-48592915 |
34 |
LAMA2 |
|
DEL |
Pathogenic
|
1684643 |
|
GRCh37: GRCh38: 6:128960376-129175759 |
35 |
SMARCAL1 |
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) |
SNV |
Pathogenic
|
374208 |
rs748106387 |
GRCh37: 2:217280150-217280150 GRCh38: 2:216415427-216415427 |
36 |
SMARCAL1 |
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) |
SNV |
Pathogenic
|
4171 |
rs119473033 |
GRCh37: 2:217342939-217342939 GRCh38: 2:216478216-216478216 |
37 |
KMT2D |
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) |
SNV |
Pathogenic
|
813529 |
rs1943461045 |
GRCh37: 12:49434325-49434325 GRCh38: 12:49040542-49040542 |
38 |
WDR11 |
NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter) |
SNV |
Pathogenic
|
1098849 |
|
GRCh37: 10:122626642-122626642 GRCh38: 10:120867130-120867130 |
39 |
WDR11 |
NM_018117.12(WDR11):c.2931+1G>A |
SNV |
Pathogenic
|
1098850 |
|
GRCh37: 10:122662745-122662745 GRCh38: 10:120903233-120903233 |
40 |
WDR11 |
NM_018117.12(WDR11):c.1439del (p.Asn480fs) |
DEL |
Pathogenic
|
1098851 |
|
GRCh37: 10:122630821-122630821 GRCh38: 10:120871309-120871309 |
41 |
WDR11 |
NM_018117.12(WDR11):c.3033_3036del |
MICROSAT |
Pathogenic
|
1098852 |
|
GRCh37: 10:122664156-122664159 GRCh38: 10:120904644-120904647 |
42 |
SMC1A |
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) |
MICROSAT |
Pathogenic
|
180197 |
rs727503773 |
GRCh37: X:53439900-53439902 GRCh38: X:53412950-53412952 |
43 |
NIPBL |
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) |
DEL |
Pathogenic
|
523556 |
rs1554034812 |
GRCh37: 5:37059040-37059040 GRCh38: 5:37058938-37058938 |
44 |
HDAC8 |
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) |
SNV |
Pathogenic
|
280793 |
rs886041936 |
GRCh37: X:71715060-71715060 GRCh38: X:72495210-72495210 |
45 |
TAF8 |
NM_138572.3(TAF8):c.781-1G>A |
SNV |
Pathogenic
|
638647 |
rs371261267 |
GRCh37: 6:42044837-42044837 GRCh38: 6:42077099-42077099 |
46 |
COL7A1 |
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) |
SNV |
Pathogenic
|
17463 |
rs121912855 |
GRCh37: 3:48612651-48612651 GRCh38: 3:48575218-48575218 |
47 |
NSRP1 |
NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs) |
DEL |
Pathogenic
|
1047905 |
|
GRCh37: 17:28512372-28512375 GRCh38: 17:30185354-30185357 |
48 |
NSRP1 |
NM_032141.4(NSRP1):c.1272dup (p.Lys425fs) |
DUP |
Pathogenic
|
1047906 |
|
GRCh37: 17:28512285-28512286 GRCh38: 17:30185267-30185268 |
49 |
NSRP1 |
NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter) |
SNV |
Pathogenic
|
1047907 |
|
GRCh37: 17:28445129-28445129 GRCh38: 17:30118111-30118111 |
50 |
RTTN |
NM_173630.4(RTTN):c.4444dup (p.Tyr1482fs) |
DUP |
Pathogenic
|
1363003 |
|
GRCh37: 18:67742707-67742708 GRCh38: 18:70075471-70075472 |