1 |
CHM |
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) |
INDEL |
Pathogenic
|
11148 |
rs132630263 |
GRCh37: X:85155705-85155706 GRCh38: X:85900700-85900701 |
2 |
CHM |
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) |
SNV |
Pathogenic
|
11150 |
rs132630265 |
GRCh37: X:85149232-85149232 GRCh38: X:85894227-85894227 |
3 |
CHM |
NM_000390.4(CHM):c.1520A>G (p.His507Arg) |
SNV |
Pathogenic
|
39809 |
rs397514603 |
GRCh37: X:85134059-85134059 GRCh38: X:85879054-85879054 |
4 |
CHM |
NM_000390.4(CHM):c.280del (p.Thr94fs) |
DEL |
Pathogenic
|
440813 |
rs1555958073 |
GRCh37: X:85233805-85233805 GRCh38: X:85978801-85978801 |
5 |
CHM |
NM_000390.4(CHM):c.660del (p.Ile221fs) |
DEL |
Pathogenic
|
635551 |
rs1603264410 |
GRCh37: X:85218712-85218712 GRCh38: X:85963707-85963707 |
6 |
CHM |
NC_000023.10:g.85296959_85303375inv |
INVERS |
Pathogenic
|
635965 |
|
GRCh37: X:85296960-85303374 GRCh38: X:86041956-86048370 |
7 |
CHM |
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) |
SNV |
Pathogenic
|
804045 |
rs1603236385 |
GRCh37: X:85134006-85134006 GRCh38: X:85879001-85879001 |
8 |
CHM |
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) |
DUP |
Pathogenic
|
804046 |
rs1603262410 |
GRCh37: X:85211267-85211268 GRCh38: X:85956262-85956263 |
9 |
CHM |
NM_000390.4(CHM):c.820-2A>G |
SNV |
Pathogenic
|
449468 |
rs1556307713 |
GRCh37: X:85212982-85212982 GRCh38: X:85957977-85957977 |
10 |
CHM |
NM_000390.4(CHM):c.29_30del (p.Asp10fs) |
DEL |
Pathogenic
|
804047 |
rs1603288815 |
GRCh37: X:85302507-85302508 GRCh38: X:86047503-86047504 |
11 |
CHM |
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) |
SNV |
Pathogenic
|
812267 |
rs1603244690 |
GRCh37: X:85156124-85156124 GRCh38: X:85901119-85901119 |
12 |
CHM |
NM_000390.4(CHM):c.819+1G>C |
SNV |
Pathogenic
|
812268 |
rs1603263147 |
GRCh37: X:85213865-85213865 GRCh38: X:85958860-85958860 |
13 |
CHM |
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) |
INDEL |
Pathogenic
|
813164 |
rs1930439753 |
GRCh37: X:85218973-85218986 GRCh38: X:85963968-85963981 |
14 |
CHM |
NM_000390.4(CHM):c.419del (p.Pro140fs) |
DEL |
Pathogenic
|
813165 |
rs1930438584 |
GRCh37: X:85218953-85218953 GRCh38: X:85963948-85963948 |
15 |
CHM |
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) |
SNV |
Pathogenic
|
813166 |
rs1930431885 |
GRCh37: X:85218903-85218903 GRCh38: X:85963898-85963898 |
16 |
CHM |
NM_000390.4(CHM):c.498_499dup (p.Leu167fs) |
MICROSAT |
Pathogenic
|
813167 |
rs1930428430 |
GRCh37: X:85218872-85218873 GRCh38: X:85963867-85963868 |
17 |
CHM |
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) |
SNV |
Pathogenic
|
1178351 |
|
GRCh37: X:85233853-85233853 GRCh38: X:85978849-85978849 |
18 |
CHM |
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) |
SNV |
Pathogenic
|
1213973 |
|
GRCh37: X:85212944-85212944 GRCh38: X:85957939-85957939 |
19 |
CHM |
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) |
SNV |
Pathogenic
|
1213974 |
|
GRCh37: X:85211258-85211258 GRCh38: X:85956253-85956253 |
20 |
CHM |
NM_000390.4(CHM):c.703-2A>G |
SNV |
Pathogenic
|
1330296 |
|
GRCh37: X:85213984-85213984 GRCh38: X:85958979-85958979 |
21 |
CHM |
NM_000390.4(CHM):c.846dup (p.Asn283Ter) |
DUP |
Pathogenic
|
1330298 |
|
GRCh37: X:85212953-85212954 GRCh38: X:85957948-85957949 |
22 |
CHM |
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) |
SNV |
Pathogenic
|
1675198 |
|
GRCh37: X:85236743-85236743 GRCh38: X:85981739-85981739 |
23 |
CHM |
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) |
SNV |
Pathogenic
|
143078 |
rs527236048 |
GRCh37: X:85213877-85213877 GRCh38: X:85958872-85958872 |
24 |
CHM |
NM_000390.4(CHM):c.1350-1G>A |
SNV |
Pathogenic
|
1685630 |
|
GRCh37: X:85155715-85155715 GRCh38: X:85900710-85900710 |
25 |
CHM |
NM_000390.4(CHM):c.961del (p.Tyr321fs) |
DEL |
Pathogenic
|
1685631 |
|
GRCh37: X:85211363-85211363 GRCh38: X:85956358-85956358 |
26 |
CHM |
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) |
SNV |
Pathogenic
|
1685632 |
|
GRCh37: X:85218935-85218935 GRCh38: X:85963930-85963930 |
27 |
CHM |
NM_000390.4(CHM):c.1680del (p.Ser561fs) |
DEL |
Pathogenic
|
546493 |
rs1556207100 |
GRCh37: X:85128147-85128147 GRCh38: X:85873142-85873142 |
28 |
CHM |
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) |
SNV |
Pathogenic
|
279775 |
rs886041179 |
GRCh37: X:85213886-85213886 GRCh38: X:85958881-85958881 |
29 |
CHM |
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer) |
DUP |
Pathogenic
|
1691447 |
|
GRCh37: X:85218981-85218982 GRCh38: X:85963976-85963977 |
30 |
CHM |
NM_000390.4(CHM):c.564_565del (p.Pro189fs) |
DEL |
Pathogenic
|
812269 |
rs1603264449 |
GRCh37: X:85218807-85218808 GRCh38: X:85963802-85963803 |
31 |
CHM |
NM_000390.4(CHM):c.1166+1G>C |
SNV |
Pathogenic
|
1075553 |
|
GRCh37: X:85211157-85211157 GRCh38: X:85956152-85956152 |
32 |
CHM |
NM_000390.4(CHM):c.652_655del (p.Ser218fs) |
DEL |
Pathogenic
|
937037 |
rs1930413413 |
GRCh37: X:85218717-85218720 GRCh38: X:85963712-85963715 |
33 |
CHM |
NM_000390.2:c.315_702del |
DEL |
Pathogenic
|
812270 |
|
GRCh37: GRCh38: |
34 |
CHM |
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT |
INSERT |
Pathogenic
|
11156 |
|
GRCh37: GRCh38: |
35 |
CHM |
NM_000390.4(CHM):c.1446del (p.Gly483fs) |
DEL |
Pathogenic
|
866059 |
rs1244003380 |
GRCh37: X:85149257-85149257 GRCh38: X:85894252-85894252 |
36 |
CHM |
NM_000390.4(CHM):c.1609+2dup |
DUP |
Pathogenic
|
56224 |
rs386833676 |
GRCh37: X:85133967-85133968 GRCh38: X:85878962-85878963 |
37 |
CHM |
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) |
SNV |
Pathogenic
|
11149 |
rs132630264 |
GRCh37: X:85149219-85149219 GRCh38: X:85894214-85894214 |
38 |
CHM |
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) |
SNV |
Pathogenic
|
11154 |
rs132630266 |
GRCh37: X:85212923-85212923 GRCh38: X:85957918-85957918 |
39 |
CHM |
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) |
SNV |
Pathogenic
|
285756 |
rs776256380 |
GRCh37: X:85213970-85213970 GRCh38: X:85958965-85958965 |
40 |
CHM |
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) |
SNV |
Pathogenic
|
635534 |
rs1603288832 |
GRCh37: X:85302515-85302515 GRCh38: X:86047511-86047511 |
41 |
CHM |
NM_000390.4(CHM):c.1413+1G>T |
SNV |
Pathogenic
|
813168 |
rs1926202120 |
GRCh37: X:85155650-85155650 GRCh38: X:85900645-85900645 |
42 |
CHM |
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) |
DEL |
Pathogenic
|
871857 |
rs1924193863 |
GRCh37: X:85128172-85128176 GRCh38: X:85873167-85873171 |
43 |
CHM |
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) |
MICROSAT |
Pathogenic
|
11152 |
rs587776746 |
GRCh37: X:85133992-85133995 GRCh38: X:85878987-85878990 |
44 |
PRPH2 |
NM_000322.5(PRPH2):c.828+3A>T |
SNV |
Pathogenic
|
98713 |
rs281865373 |
GRCh37: 6:42672100-42672100 GRCh38: 6:42704362-42704362 |
45 |
CHM |
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) |
SNV |
Pathogenic
|
11153 |
rs132630267 |
GRCh37: X:85149206-85149206 GRCh38: X:85894201-85894201 |
46 |
CHM |
NM_000390.4(CHM):c.315-1536A>G |
SNV |
Likely Pathogenic
|
438064 |
rs1555955061 |
GRCh37: X:85220593-85220593 GRCh38: X:85965588-85965588 |
47 |
CHM |
NM_000390.4(CHM):c.82_83del (p.Ser28fs) |
DEL |
Likely Pathogenic
|
1724007 |
|
GRCh37: X:85282528-85282529 GRCh38: X:86027524-86027525 |
48 |
CHM |
NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs) |
INSERT |
Likely Pathogenic
|
1725429 |
|
GRCh37: X:85282540-85282541 GRCh38: X:86027536-86027537 |
49 |
CHM |
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter) |
SNV |
Likely Pathogenic
|
1725523 |
|
GRCh37: X:85236801-85236801 GRCh38: X:85981797-85981797 |
50 |
CHM |
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter) |
SNV |
Likely Pathogenic
|
1725706 |
|
GRCh37: X:85166324-85166324 GRCh38: X:85911319-85911319 |