1 |
RAD50
|
NM_005732.4(RAD50): c.2116C> T (p.Arg706Ter)
|
single nucleotide variant |
Pathogenic |
rs772468452
|
5:131931411-131931411 |
5:132595719-132595719 |
2 |
RAD50
|
NM_005732.4(RAD50): c.3939A> T (p.Ter1313Tyr)
|
single nucleotide variant |
Pathogenic |
rs121912629
|
5:131978056-131978056 |
5:132642364-132642364 |
3 |
RAD50
|
NM_005732.4(RAD50): c.2165dup (p.Glu723fs)
|
duplication |
Pathogenic |
rs397507178
|
5:131931460-131931460 |
5:132595768-132595768 |
4 |
RAD50
|
NM_005732.4(RAD50): c.904G> T (p.Glu302Ter)
|
single nucleotide variant |
Pathogenic |
rs587782090
|
5:131923634-131923634 |
5:132587942-132587942 |
5 |
RAD50
|
NM_005732.4(RAD50): c.2498_2499del (p.Gln833fs)
|
deletion |
Pathogenic |
rs587782895
|
5:131939712-131939713 |
5:132604020-132604021 |
6 |
RAD50
|
NM_005732.4(RAD50): c.1875C> G (p.Tyr625Ter)
|
single nucleotide variant |
Pathogenic |
rs149201802
|
5:131930642-131930642 |
5:132594950-132594950 |
7 |
RAD50
|
NM_005732.4(RAD50): c.3489_3495del (p.Glu1164fs)
|
deletion |
Pathogenic/Likely pathogenic |
rs878854799
|
5:131973786-131973792 |
5:132638094-132638100 |
8 |
RAD50
|
NM_005732.4(RAD50): c.561dup (p.Ala188fs)
|
duplication |
Pathogenic/Likely pathogenic |
rs876659005
|
5:131915563-131915563 |
5:132579871-132579871 |
9 |
RAD50
|
NM_005732.4(RAD50): c.687del (p.Ser229fs)
|
deletion |
Pathogenic/Likely pathogenic |
rs760146707
|
5:131915689-131915689 |
5:132579997-132579997 |
10 |
RAD50
|
NM_005732.4(RAD50): c.1174_1177del (p.Gln392fs)
|
deletion |
Pathogenic/Likely pathogenic |
rs1554098250
|
5:131924501-131924504 |
5:132588809-132588812 |
11 |
RAD50
|
NM_005732.4(RAD50): c.1093C> T (p.Arg365Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs1247689593
|
5:131924420-131924420 |
5:132588728-132588728 |
12 |
RAD50
|
NM_005732.4(RAD50): c.3029_3032del (p.Thr1010fs)
|
deletion |
Pathogenic/Likely pathogenic |
rs1060501941
|
5:131945081-131945084 |
5:132609389-132609392 |
13 |
RAD50
|
NM_005732.4(RAD50): c.3277C> T (p.Arg1093Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs121912628
|
5:131953874-131953874 |
5:132618182-132618182 |
14 |
RAD50
|
NM_005732.4(RAD50): c.183del (p.Gly63fs)
|
deletion |
Likely pathogenic |
rs1554096791
|
5:131895029-131895029 |
5:132559337-132559337 |
15 |
RAD50
|
NM_005732.4(RAD50): c.980G> A (p.Arg327His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs28903091
|
5:131923710-131923710 |
5:132588018-132588018 |
16 |
RAD50
|
NM_005732.4(RAD50): c.3036+5G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs181016343
|
5:131945093-131945093 |
5:132609401-132609401 |
17 |
RAD50
|
NM_005732.4(RAD50): c.1534G> T (p.Ala512Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs147366706
|
5:131926997-131926997 |
5:132591305-132591305 |
18 |
RAD50
|
NM_005732.4(RAD50): c.1094G> A (p.Arg365Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146370443
|
5:131924421-131924421 |
5:132588729-132588729 |
19 |
RAD50
|
NM_005732.4(RAD50): c.1211A> G (p.Gln404Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200017020
|
5:131924538-131924538 |
5:132588846-132588846 |
20 |
RAD50
|
NM_005732.4(RAD50): c.260G> A (p.Arg87His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs374561375
|
5:131911515-131911515 |
5:132575823-132575823 |
21 |
RAD50
|
NM_005732.4(RAD50): c.2647C> T (p.Arg883Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138749920
|
5:131940620-131940620 |
5:132604928-132604928 |
22 |
RAD50
|
NM_005732.4(RAD50): c.379G> A (p.Val127Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs28903086
|
5:131915022-131915022 |
5:132579330-132579330 |
23 |
RAD50
|
NM_005732.4(RAD50): c.3790C> T (p.Leu1264Phe)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs199579239
|
5:131977907-131977907 |
5:132642215-132642215 |
24 |
RAD50
|
NM_005732.4(RAD50): c.1336A> G (p.Lys446Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149217423
|
5:131925413-131925413 |
5:132589721-132589721 |
25 |
RAD50
|
NM_005732.4(RAD50): c.1580A> G (p.Gln527Arg)
|
single nucleotide variant |
Uncertain significance |
rs1554098420
|
5:131927043-131927043 |
5:132591351-132591351 |
26 |
RAD50
|
NM_005732.4(RAD50): c.2530A> C (p.Ser844Arg)
|
single nucleotide variant |
Uncertain significance |
rs373817937
|
5:131940503-131940503 |
5:132604811-132604811 |
27 |
RAD50
|
NM_005732.4(RAD50): c.3836G> A (p.Arg1279His)
|
single nucleotide variant |
Uncertain significance |
rs375710541
|
5:131977953-131977953 |
5:132642261-132642261 |
28 |
RAD50
|
NM_005732.4(RAD50): c.1721A> G (p.Lys574Arg)
|
single nucleotide variant |
Uncertain significance |
rs1386858430
|
5:131927654-131927654 |
5:132591962-132591962 |
29 |
RAD50
|
NM_005732.4(RAD50): c.1402G> A (p.Glu468Lys)
|
single nucleotide variant |
Uncertain significance |
rs145031602
|
5:131925479-131925479 |
5:132589787-132589787 |
30 |
RAD50
|
NM_005732.4(RAD50): c.214G> A (p.Val72Ile)
|
single nucleotide variant |
Uncertain significance |
rs118029772
|
5:131911469-131911469 |
5:132575777-132575777 |
31 |
RAD50
|
NM_005732.4(RAD50): c.1677C> G (p.His559Gln)
|
single nucleotide variant |
Uncertain significance |
rs142619269
|
5:131927610-131927610 |
5:132591918-132591918 |
32 |
RAD50
|
NM_005732.4(RAD50): c.1604G> A (p.Arg535His)
|
single nucleotide variant |
Uncertain significance |
rs200548021
|
5:131927067-131927067 |
5:132591375-132591375 |
33 |
RAD50
|
NM_005732.4(RAD50): c.785T> G (p.Leu262Arg)
|
single nucleotide variant |
Uncertain significance |
rs201728859
|
5:131923282-131923282 |
5:132587590-132587590 |
34 |
RAD50
|
NM_005732.4(RAD50): c.2047G> A (p.Val683Ile)
|
single nucleotide variant |
Uncertain significance |
rs367925756
|
5:131931342-131931342 |
5:132595650-132595650 |
35 |
RAD50
|
NM_005732.4(RAD50): c.2209C> G (p.Gln737Glu)
|
single nucleotide variant |
Uncertain significance |
rs549559726
|
5:131938993-131938993 |
5:132603301-132603301 |
36 |
RAD50
|
NM_005732.4(RAD50): c.1457G> A (p.Arg486His)
|
single nucleotide variant |
Uncertain significance |
rs776949511
|
5:131926920-131926920 |
5:132591228-132591228 |
37 |
RAD50
|
NM_005732.4(RAD50): c.586C> T (p.Arg196Cys)
|
single nucleotide variant |
Uncertain significance |
rs769853458
|
5:131915588-131915588 |
5:132579896-132579896 |
38 |
RAD50
|
NM_005732.4(RAD50): c.1192A> G (p.Lys398Glu)
|
single nucleotide variant |
Uncertain significance |
rs756173890
|
5:131924519-131924519 |
5:132588827-132588827 |
39 |
RAD50
|
NM_005732.4(RAD50): c.2204T> A (p.Met735Lys)
|
single nucleotide variant |
Uncertain significance |
rs757043253
|
5:131931499-131931499 |
5:132595807-132595807 |
40 |
RAD50
|
NM_005732.4(RAD50): c.2836G> A (p.Asp946Asn)
|
single nucleotide variant |
Uncertain significance |
rs766657227
|
5:131944815-131944815 |
5:132609123-132609123 |
41 |
RAD50
|
NM_005732.4(RAD50): c.3206G> T (p.Arg1069Ile)
|
single nucleotide variant |
Uncertain significance |
rs769003601
|
5:131953803-131953803 |
5:132618111-132618111 |
42 |
RAD50
|
NM_005732.4(RAD50): c.1876G> A (p.Glu626Lys)
|
single nucleotide variant |
Uncertain significance |
rs763432574
|
5:131930643-131930643 |
5:132594951-132594951 |
43 |
RAD50
|
NM_005732.4(RAD50): c.3806_3807del (p.His1269fs)
|
deletion |
Uncertain significance |
rs1085307088
|
5:131977923-131977924 |
5:132642231-132642232 |
44 |
RAD50
|
NM_005732.4(RAD50): c.217G> A (p.Ala73Thr)
|
single nucleotide variant |
Uncertain significance |
rs371122101
|
5:131911472-131911472 |
5:132575780-132575780 |
45 |
RAD50
|
NM_005732.4(RAD50): c.2840T> C (p.Ile947Thr)
|
single nucleotide variant |
Uncertain significance |
rs150401251
|
5:131944819-131944819 |
5:132609127-132609127 |
46 |
RAD50
|
NM_005732.4(RAD50): c.3467G> A (p.Arg1156His)
|
single nucleotide variant |
Uncertain significance |
rs587780156
|
5:131972884-131972884 |
5:132637192-132637192 |
47 |
RAD50
|
NM_005732.4(RAD50): c.1277A> G (p.Gln426Arg)
|
single nucleotide variant |
Uncertain significance |
rs145428112
|
5:131925354-131925354 |
5:132589662-132589662 |
48 |
RAD50
|
NM_005732.4(RAD50): c.2177G> A (p.Arg726His)
|
single nucleotide variant |
Uncertain significance |
rs28903092
|
5:131931472-131931472 |
5:132595780-132595780 |
49 |
RAD50
|
NM_005732.4(RAD50): c.2397G> C (p.Gln799His)
|
single nucleotide variant |
Uncertain significance |
rs61749630
|
5:131939181-131939181 |
5:132603489-132603489 |
50 |
RAD50
|
NM_005732.4(RAD50): c.2548C> T (p.Arg850Cys)
|
single nucleotide variant |
Uncertain significance |
rs181961360
|
5:131940521-131940521 |
5:132604829-132604829 |