1 |
RECQL4 |
NM_004260.4(RECQL4):c.1015del (p.Leu339fs) |
DEL |
Pathogenic
|
407030 |
rs1060501384 |
GRCh37: 8:145741488-145741488 GRCh38: 8:144516104-144516104 |
2 |
RECQL4 |
NM_004260.4(RECQL4):c.805del (p.Trp269fs) |
DEL |
Pathogenic
|
406956 |
rs1060501370 |
GRCh37: 8:145741698-145741698 GRCh38: 8:144516314-144516314 |
3 |
RECQL4 |
NM_004260.4(RECQL4):c.2464-1G>C |
SNV |
Pathogenic
|
94889 |
rs398124117 |
GRCh37: 8:145738522-145738522 GRCh38: 8:144513139-144513139 |
4 |
RECQL4 |
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) |
INDEL |
Pathogenic
Pathogenic
|
407029 |
rs1060501383 |
GRCh37: 8:145740367-145740372 GRCh38: 8:144514983-144514988 |
5 |
RECQL4 |
NM_004260.4(RECQL4):c.2379_2380dup (p.Ser794fs) |
DUP |
Pathogenic
|
239722 |
rs878854645 |
GRCh37: 8:145738683-145738684 GRCh38: 8:144513300-144513301 |
6 |
RECQL4 |
NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter) |
SNV |
Pathogenic
|
239708 |
rs878854644 |
GRCh37: 8:145739635-145739635 GRCh38: 8:144514251-144514251 |
7 |
RECQL4 |
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) |
MICROSAT |
Pathogenic
|
406969 |
rs778141083 |
GRCh37: 8:145738437-145738438 GRCh38: 8:144513054-144513055 |
8 |
RECQL4 |
NM_004260.4(RECQL4):c.871del (p.Ala291fs) |
DEL |
Pathogenic
|
459525 |
rs1389647533 |
GRCh37: 8:145741632-145741632 GRCh38: 8:144516248-144516248 |
9 |
RECQL4 |
NM_004260.4(RECQL4):c.143_144del (p.Leu48fs) |
DEL |
Pathogenic
|
459326 |
rs1554904773 |
GRCh37: 8:145742867-145742868 GRCh38: 8:144517483-144517484 |
10 |
RECQL4 |
NM_004260.4(RECQL4):c.194_200del (p.Leu65fs) |
DEL |
Pathogenic
|
459359 |
rs1554904685 |
GRCh37: 8:145742811-145742817 GRCh38: 8:144517427-144517433 |
11 |
RECQL4 |
NM_004260.4(RECQL4):c.925C>T (p.Gln309Ter) |
SNV |
Pathogenic
|
459529 |
rs1554902528 |
GRCh37: 8:145741578-145741578 GRCh38: 8:144516194-144516194 |
12 |
RECQL4 |
NM_004260.4(RECQL4):c.2590C>T (p.Gln864Ter) |
SNV |
Pathogenic
|
528954 |
rs1054186954 |
GRCh37: 8:145738395-145738395 GRCh38: 8:144513012-144513012 |
13 |
RECQL4 |
NM_004260.4(RECQL4):c.2085del (p.Lys695fs) |
DEL |
Pathogenic
|
528955 |
rs1457411812 |
GRCh37: 8:145739070-145739070 GRCh38: 8:144513686-144513686 |
14 |
RECQL4 |
NM_004260.4(RECQL4):c.1960C>T (p.Gln654Ter) |
SNV |
Pathogenic
|
528982 |
rs552960344 |
GRCh37: 8:145739410-145739410 GRCh38: 8:144514026-144514026 |
15 |
RECQL4 |
NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter) |
SNV |
Pathogenic
|
528983 |
rs1554899720 |
GRCh37: 8:145739613-145739613 GRCh38: 8:144514229-144514229 |
16 |
RECQL4 |
NM_004260.4(RECQL4):c.3148C>T (p.Gln1050Ter) |
SNV |
Pathogenic
|
529008 |
rs1554896691 |
GRCh37: 8:145737615-145737615 GRCh38: 8:144512232-144512232 |
17 |
RECQL4 |
NM_004260.4(RECQL4):c.1236G>A (p.Trp412Ter) |
SNV |
Pathogenic
|
528932 |
rs1554901674 |
GRCh37: 8:145741170-145741170 GRCh38: 8:144515786-144515786 |
18 |
RECQL4 |
NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter) |
SNV |
Pathogenic
|
528933 |
rs1554899728 |
GRCh37: 8:145739617-145739617 GRCh38: 8:144514233-144514233 |
19 |
RECQL4 |
NM_004260.4(RECQL4):c.1203del (p.Glu401fs) |
DEL |
Pathogenic
|
565331 |
rs1220902289 |
GRCh37: 8:145741203-145741203 GRCh38: 8:144515819-144515819 |
20 |
RECQL4 |
NM_004260.4(RECQL4):c.3277del (p.Asp1093fs) |
DEL |
Pathogenic
|
528978 |
rs1356876749 |
GRCh37: 8:145737410-145737410 GRCh38: 8:144512027-144512027 |
21 |
RECQL4 |
NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs) |
INSERT |
Pathogenic
|
566483 |
rs1564807584 |
GRCh37: 8:145741828-145741829 GRCh38: 8:144516444-144516445 |
22 |
RECQL4 |
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) |
SNV |
Pathogenic
|
568068 |
rs770709355 |
GRCh37: 8:145739831-145739831 GRCh38: 8:144514447-144514447 |
23 |
RECQL4 |
NM_004260.4(RECQL4):c.641C>A (p.Ser214Ter) |
SNV |
Pathogenic
|
571451 |
rs1317950691 |
GRCh37: 8:145741862-145741862 GRCh38: 8:144516478-144516478 |
24 |
RECQL4 |
NM_004260.4(RECQL4):c.752del (p.Ser251fs) |
DEL |
Pathogenic
|
423196 |
rs1064796290 |
GRCh37: 8:145741751-145741751 GRCh38: 8:144516367-144516367 |
25 |
RECQL4 |
NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter) |
SNV |
Pathogenic
|
573617 |
rs1564808132 |
GRCh37: 8:145741929-145741929 GRCh38: 8:144516545-144516545 |
26 |
RECQL4 |
NM_004260.4(RECQL4):c.1400del (p.Ala467fs) |
DEL |
Pathogenic
|
574681 |
rs1564802464 |
GRCh37: 8:145740617-145740617 GRCh38: 8:144515233-144515233 |
27 |
RECQL4 |
NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs) |
DEL |
Pathogenic
|
575425 |
rs780542343 |
GRCh37: 8:145739644-145739681 GRCh38: 8:144514260-144514297 |
28 |
RECQL4 |
NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs) |
INDEL |
Pathogenic
|
577898 |
rs1564804342 |
GRCh37: 8:145741234-145741235 GRCh38: 8:144515850-144515851 |
29 |
RECQL4 |
NM_004260.4(RECQL4):c.318del (p.Gln107fs) |
DEL |
Pathogenic
|
576993 |
rs775439596 |
GRCh37: 8:145742470-145742470 GRCh38: 8:144517086-144517086 |
30 |
RECQL4 |
NM_004260.4(RECQL4):c.2464-1G>A |
SNV |
Pathogenic
|
577322 |
rs398124117 |
GRCh37: 8:145738522-145738522 GRCh38: 8:144513139-144513139 |
31 |
RECQL4 |
NM_004260.4(RECQL4):c.686del (p.Gly229fs) |
DEL |
Pathogenic
|
641082 |
rs1586824650 |
GRCh37: 8:145741817-145741817 GRCh38: 8:144516433-144516433 |
32 |
RECQL4 |
NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter) |
SNV |
Pathogenic
|
641783 |
rs934534826 |
GRCh37: 8:145741593-145741593 GRCh38: 8:144516209-144516209 |
33 |
RECQL4 |
NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter) |
SNV |
Pathogenic
|
643471 |
rs766643335 |
GRCh37: 8:145742473-145742473 GRCh38: 8:144517089-144517089 |
34 |
RECQL4 |
NM_004260.4(RECQL4):c.3141_3142del (p.Lys1048fs) |
MICROSAT |
Pathogenic
|
649113 |
rs773765879 |
GRCh37: 8:145737621-145737622 GRCh38: 8:144512238-144512239 |
35 |
RECQL4 |
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) |
MICROSAT |
Pathogenic
|
649166 |
rs1586824938 |
GRCh37: 8:145741858-145741859 GRCh38: 8:144516474-144516475 |
36 |
RECQL4 |
NM_004260.4(RECQL4):c.2636dup (p.Gln880fs) |
DUP |
Pathogenic
|
651496 |
rs1215700016 |
GRCh37: 8:145738348-145738349 GRCh38: 8:144512965-144512966 |
37 |
RECQL4 |
NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs) |
INSERT |
Pathogenic
|
640388 |
rs1586819343 |
GRCh37: 8:145741182-145741183 GRCh38: 8:144515798-144515799 |
38 |
RECQL4 |
NM_004260.4(RECQL4):c.3280G>T (p.Glu1094Ter) |
SNV |
Pathogenic
|
657236 |
rs1586791537 |
GRCh37: 8:145737407-145737407 GRCh38: 8:144512024-144512024 |
39 |
RECQL4 |
NM_004260.4(RECQL4):c.3008_3009del (p.Val1003fs) |
MICROSAT |
Pathogenic
|
657598 |
rs1586795055 |
GRCh37: 8:145737821-145737822 GRCh38: 8:144512438-144512439 |
40 |
RECQL4 |
NM_004260.4(RECQL4):c.1391-1G>A |
SNV |
Pathogenic
|
6067 |
rs117642173 |
GRCh37: 8:145740627-145740627 GRCh38: 8:144515243-144515243 |
41 |
RECQL4 |
NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs) |
DEL |
Pathogenic
|
658938 |
rs1586821509 |
GRCh37: 8:145741451-145741452 GRCh38: 8:144516067-144516068 |
42 |
RECQL4 |
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) |
SNV |
Pathogenic
|
666165 |
rs1406641581 |
GRCh37: 8:145738323-145738323 GRCh38: 8:144512940-144512940 |
43 |
RECQL4 |
NM_004260.4(RECQL4):c.3433C>T (p.Gln1145Ter) |
SNV |
Pathogenic
|
837971 |
rs1827248750 |
GRCh37: 8:145737133-145737133 GRCh38: 8:144511750-144511750 |
44 |
RECQL4 |
NM_004260.4(RECQL4):c.2415_2419del (p.Ala805_Gly806insTer) |
MICROSAT |
Pathogenic
|
843639 |
rs1564794448 |
GRCh37: 8:145738645-145738649 GRCh38: 8:144513262-144513266 |
45 |
RECQL4 |
NM_004260.4(RECQL4):c.1137G>A (p.Trp379Ter) |
SNV |
Pathogenic
|
843640 |
rs1360427319 |
GRCh37: 8:145741269-145741269 GRCh38: 8:144515885-144515885 |
46 |
RECQL4 |
NM_004260.4(RECQL4):c.2539C>T (p.Gln847Ter) |
SNV |
Pathogenic
|
843922 |
rs1827556397 |
GRCh37: 8:145738446-145738446 GRCh38: 8:144513063-144513063 |
47 |
RECQL4 |
NM_004260.4(RECQL4):c.1409dup (p.Gln471fs) |
DUP |
Pathogenic
|
845205 |
rs1827984994 |
GRCh37: 8:145740607-145740608 GRCh38: 8:144515223-144515224 |
48 |
RECQL4 |
NM_004260.4(RECQL4):c.854del (p.Pro285fs) |
DEL |
Pathogenic
|
846137 |
rs1292831710 |
GRCh37: 8:145741649-145741649 GRCh38: 8:144516265-144516265 |
49 |
RECQL4 |
NM_004260.4(RECQL4):c.187_196del (p.Glu63fs) |
DEL |
Pathogenic
|
847782 |
rs1815344712 |
GRCh37: 8:145742815-145742824 GRCh38: 8:144517431-144517440 |
50 |
RECQL4 |
NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter) |
SNV |
Pathogenic
|
489031 |
rs758790200 |
GRCh37: 8:145738793-145738793 GRCh38: 8:144513409-144513409 |