1 |
LIG4 |
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu) |
SNV |
Pathogenic
|
7674 |
rs104894420 |
GRCh37: 13:108862211-108862211 GRCh38: 13:108209863-108209863 |
2 |
LIG4 |
NM_206937.2(LIG4):c.1295AAC[1] (p.Gln433del) |
MICROSAT |
Pathogenic
|
7678 |
rs587776663 |
GRCh37: 13:108862317-108862319 GRCh38: 13:108209969-108209971 |
3 |
LIG4 |
NC_000013.11:g.(?_108208513)_(108211288_?)del |
DEL |
Pathogenic
|
665646 |
|
GRCh37: 13:108860861-108863636 GRCh38: 13:108208513-108211288 |
4 |
LIG4 |
NM_206937.2(LIG4):c.597_600del (p.Gln200fs) |
DEL |
Pathogenic
|
1370122 |
|
GRCh37: 13:108863017-108863020 GRCh38: 13:108210669-108210672 |
5 |
LIG4 |
NM_206937.2(LIG4):c.724_725del (p.Leu242fs) |
DEL |
Pathogenic
|
1423545 |
|
GRCh37: 13:108862892-108862893 GRCh38: 13:108210544-108210545 |
6 |
LIG4 |
NM_206937.2(LIG4):c.613del (p.Ser205fs) |
DEL |
Pathogenic
|
521262 |
rs780879476 |
GRCh37: 13:108863004-108863004 GRCh38: 13:108210656-108210656 |
7 |
LIG4 |
NC_000013.10:g.(?_108860881)_(108863616_?)del |
DEL |
Pathogenic
|
1459476 |
|
GRCh37: 13:108860881-108863616 GRCh38: |
8 |
LIG4 |
NM_206937.2(LIG4):c.1904del (p.Lys635fs) |
DEL |
Pathogenic
|
418659 |
rs375554612 |
GRCh37: 13:108861713-108861713 GRCh38: 13:108209365-108209365 |
9 |
LIG4 |
NM_206937.2(LIG4):c.832C>G (p.Arg278Gly) |
SNV |
Pathogenic
|
978715 |
rs574912936 |
GRCh37: 13:108862785-108862785 GRCh38: 13:108210437-108210437 |
10 |
LIG4 |
NM_206937.2(LIG4):c.799_800del (p.Ser267fs) |
MICROSAT |
Pathogenic
|
567502 |
rs1566366148 |
GRCh37: 13:108862817-108862818 GRCh38: 13:108210469-108210470 |
11 |
LIG4 |
NM_206937.2(LIG4):c.1642_1643del (p.Tyr548fs) |
MICROSAT |
Pathogenic
|
638937 |
rs1594458526 |
GRCh37: 13:108861974-108861975 GRCh38: 13:108209626-108209627 |
12 |
LIG4 |
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) |
MICROSAT |
Pathogenic
|
433156 |
rs759838407 |
GRCh37: 13:108862104-108862105 GRCh38: 13:108209756-108209757 |
13 |
LIG4 |
NM_206937.2(LIG4):c.2305dup (p.Thr769fs) |
DUP |
Pathogenic
|
841699 |
rs1878251067 |
GRCh37: 13:108861311-108861312 GRCh38: 13:108208963-108208964 |
14 |
LIG4 |
NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs) |
DEL |
Pathogenic
|
1076150 |
|
GRCh37: 13:108861867-108861871 GRCh38: 13:108209519-108209523 |
15 |
LIG4 |
NM_206937.2(LIG4):c.845A>T (p.His282Leu) |
SNV |
Pathogenic
|
845678 |
rs777008519 |
GRCh37: 13:108862772-108862772 GRCh38: 13:108210424-108210424 |
16 |
LIG4 |
NM_206937.2(LIG4):c.1144_1145del (p.Leu382fs) |
MICROSAT |
Pathogenic
|
523952 |
rs1246940345 |
GRCh37: 13:108862472-108862473 GRCh38: 13:108210124-108210125 |
17 |
LIG4 |
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs) |
MICROSAT |
Pathogenic
|
1338655 |
rs759838407 |
GRCh37: 13:108862103-108862104 GRCh38: 13:108209755-108209756 |
18 |
LIG4 |
NM_206937.2(LIG4):c.1246_1250dup (p.Leu418fs) |
DUP |
Pathogenic
|
1418233 |
|
GRCh37: 13:108862366-108862367 GRCh38: 13:108210018-108210019 |
19 |
LIG4 |
NM_206937.2(LIG4):c.1475del (p.Pro492fs) |
DEL |
Pathogenic
|
1450499 |
|
GRCh37: 13:108862142-108862142 GRCh38: 13:108209794-108209794 |
20 |
LIG4 |
NM_206937.2(LIG4):c.2175del (p.Trp725fs) |
DEL |
Pathogenic
|
1456881 |
|
GRCh37: 13:108861442-108861442 GRCh38: 13:108209094-108209094 |
21 |
LIG4 |
NM_206937.2(LIG4):c.73C>T (p.Arg25Ter) |
SNV |
Pathogenic
|
1453558 |
|
GRCh37: 13:108863544-108863544 GRCh38: 13:108211196-108211196 |
22 |
LIG4 |
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) |
SNV |
Pathogenic
|
7672 |
rs104894418 |
GRCh37: 13:108861879-108861879 GRCh38: 13:108209531-108209531 |
23 |
LIG4 |
NM_206937.2(LIG4):c.833G>A (p.Arg278His) |
SNV |
Pathogenic
|
7675 |
rs104894421 |
GRCh37: 13:108862784-108862784 GRCh38: 13:108210436-108210436 |
24 |
LIG4 |
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
7673 |
rs104894419 |
GRCh37: 13:108861177-108861177 GRCh38: 13:108208829-108208829 |
25 |
LIG4 |
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) |
DEL |
Pathogenic
|
279838 |
rs772226399 |
GRCh37: 13:108862342-108862346 GRCh38: 13:108209994-108209998 |
26 |
LIG4 |
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) |
SNV |
Pathogenic/Likely Pathogenic
|
1343557 |
|
GRCh37: 13:108861523-108861523 GRCh38: 13:108209175-108209175 |
27 |
LIG4 |
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) |
DEL |
Pathogenic/Likely Pathogenic
|
505512 |
rs751070095 |
GRCh37: 13:108862734-108862738 GRCh38: 13:108210386-108210390 |
28 |
LIG4 |
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs) |
DEL |
Likely Pathogenic
|
1177531 |
|
GRCh37: 13:108861207-108861216 GRCh38: 13:108208859-108208868 |
29 |
LIG4 |
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg) |
SNV |
Likely Pathogenic
|
1339553 |
|
GRCh37: 13:108862335-108862335 GRCh38: 13:108209987-108209987 |
30 |
LIG4 |
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu) |
SNV |
Likely Pathogenic
|
694006 |
rs1594462950 |
GRCh37: 13:108862770-108862770 GRCh38: 13:108210422-108210422 |
31 |
LIG4 |
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro) |
SNV |
Likely Pathogenic
|
397529 |
rs1060499662 |
GRCh37: 13:108861296-108861296 GRCh38: 13:108208948-108208948 |
32 |
LIG4 |
NM_206937.2(LIG4):c.1312T>C (p.Tyr438His) |
SNV |
Likely Pathogenic
|
225274 |
rs886037777 |
GRCh37: 13:108862305-108862305 GRCh38: 13:108209957-108209957 |
33 |
LIG4 |
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser) |
SNV |
Likely Pathogenic
|
1706526 |
|
GRCh37: 13:108863549-108863549 GRCh38: 13:108211201-108211201 |
34 |
LIG4 |
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) |
SNV |
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
|
310975 |
rs72660870 |
GRCh37: 13:108861092-108861092 GRCh38: 13:108208744-108208744 |
35 |
LIG4 |
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310992 |
rs138021217 |
GRCh37: 13:108863117-108863117 GRCh38: 13:108210769-108210769 |
36 |
LIG4 |
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310977 |
rs769297575 |
GRCh37: 13:108861118-108861118 GRCh38: 13:108208770-108208770 |
37 |
LIG4 |
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310980 |
rs199638675 |
GRCh37: 13:108861634-108861634 GRCh38: 13:108209286-108209286 |
38 |
LIG4 |
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310978 |
rs529756815 |
GRCh37: 13:108861343-108861343 GRCh38: 13:108208995-108208995 |
39 |
LIG4 |
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310984 |
rs147181971 |
GRCh37: 13:108862365-108862365 GRCh38: 13:108210017-108210017 |
40 |
LIG4 |
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310979 |
rs143767581 |
GRCh37: 13:108861395-108861395 GRCh38: 13:108209047-108209047 |
41 |
LIG4 |
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
881301 |
rs763222026 |
GRCh37: 13:108861907-108861907 GRCh38: 13:108209559-108209559 |
42 |
LIG4 |
NM_206937.2(LIG4):c.1830C>T (p.Leu610=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
883646 |
rs768563098 |
GRCh37: 13:108861787-108861787 GRCh38: 13:108209439-108209439 |
43 |
LIG4 |
NM_206937.2(LIG4):c.1242A>C (p.Val414=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
827984 |
rs150828164 |
GRCh37: 13:108862375-108862375 GRCh38: 13:108210027-108210027 |
44 |
LIG4 |
NM_206937.2(LIG4):c.285G>A (p.Glu95=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
435755 |
rs150146196 |
GRCh37: 13:108863332-108863332 GRCh38: 13:108210984-108210984 |
45 |
LIG4 |
NM_206937.2(LIG4):c.2197A>G (p.Lys733Glu) |
SNV |
Uncertain Significance
|
834564 |
rs762817407 |
GRCh37: 13:108861420-108861420 GRCh38: 13:108209072-108209072 |
46 |
LIG4 |
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) |
SNV |
Uncertain Significance
|
834697 |
rs3093765 |
GRCh37: 13:108862926-108862926 GRCh38: 13:108210578-108210578 |
47 |
LIG4 |
NM_206937.2(LIG4):c.2468A>G (p.Tyr823Cys) |
SNV |
Uncertain Significance
|
835493 |
rs751149500 |
GRCh37: 13:108861149-108861149 GRCh38: 13:108208801-108208801 |
48 |
LIG4 |
NM_206937.2(LIG4):c.2320C>G (p.Leu774Val) |
SNV |
Uncertain Significance
|
837865 |
rs760371875 |
GRCh37: 13:108861297-108861297 GRCh38: 13:108208949-108208949 |
49 |
LIG4 |
NM_206937.2(LIG4):c.230G>A (p.Arg77Lys) |
SNV |
Uncertain Significance
|
844794 |
rs199707115 |
GRCh37: 13:108863387-108863387 GRCh38: 13:108211039-108211039 |
50 |
LIG4 |
NM_206937.2(LIG4):c.689A>T (p.Asp230Val) |
SNV |
Uncertain Significance
|
844865 |
rs1388798970 |
GRCh37: 13:108862928-108862928 GRCh38: 13:108210580-108210580 |