1 |
CAPN3 |
NC_000015.10:g.(?_42359500)_(42412317_?)del |
Deletion |
Pathogenic |
468637 |
|
15:42651698-42704515 |
15:42359500-42412317 |
2 |
CAPN3 |
NC_000015.10:g.(?_42359796)_(42360124_?)del |
Deletion |
Pathogenic |
640989 |
|
15:42651994-42652322 |
15:42359796-42360124 |
3 |
CAPN3 |
NC_000015.10:g.(?_42359796)_(42399662_?)del |
Deletion |
Pathogenic |
647946 |
|
15:42651994-42691860 |
15:42359796-42399662 |
4 |
CAPN3 |
NC_000015.10:g.(?_42394246)_(42394351_?)del |
Deletion |
Pathogenic |
648523 |
|
15:42686444-42686549 |
15:42394246-42394351 |
5 |
CAPN3 |
NC_000015.10:g.(?_42389933)_(42411793_?)del |
Deletion |
Pathogenic |
650702 |
|
15:42682131-42703991 |
15:42389933-42411793 |
6 |
CAPN3 |
NC_000015.10:g.(?_42359796)_(42411783_?)del |
Deletion |
Pathogenic |
655755 |
|
15:42651994-42703981 |
15:42359796-42411783 |
7 |
CAPN3 |
NC_000015.10:g.(?_42396790)_(42404849_?)del |
Deletion |
Pathogenic |
832060 |
|
15:42688988-42697047 |
|
8 |
CAPN3 |
NC_000015.10:g.(?_42384473)_(42392732_?)del |
Deletion |
Pathogenic |
832061 |
|
15:42676671-42684930 |
|
9 |
CAPN3 |
NC_000015.10:g.(?_42384473)_(42394351_?)del |
Deletion |
Pathogenic |
832313 |
|
15:42676671-42686549 |
|
10 |
CAPN3 |
NC_000015.10:g.(?_42384473)_(42390106_?)del |
Deletion |
Pathogenic |
833365 |
|
15:42676671-42682304 |
|
11 |
CAPN3 |
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) |
SNV |
Pathogenic |
17614 |
rs121434544 |
15:42695170-42695170 |
15:42402972-42402972 |
12 |
CAPN3 |
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) |
SNV |
Pathogenic |
17615 |
rs121434545 |
15:42676699-42676699 |
15:42384501-42384501 |
13 |
CAPN3 |
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe) |
SNV |
Pathogenic |
17616 |
rs121434546 |
15:42652260-42652260 |
15:42360062-42360062 |
14 |
CAPN3 |
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) |
Indel |
Pathogenic |
17618 |
rs1555423217 |
15:42703180-42703181 |
15:42410982-42410983 |
15 |
CAPN3 |
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys) |
SNV |
Pathogenic |
17619 |
rs267606703 |
15:42686504-42686504 |
15:42394306-42394306 |
16 |
CAPN3 |
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) |
SNV |
Pathogenic |
17622 |
rs121434548 |
15:42693953-42693953 |
15:42401755-42401755 |
17 |
CAPN3 |
NM_000070.3(CAPN3):c.946-1G>A |
SNV |
Pathogenic |
21036 |
rs80338801 |
15:42684836-42684836 |
15:42392638-42392638 |
18 |
CAPN3 |
NM_000070.3(CAPN3):c.756_758GAA[1] (p.Lys254del) |
Microsatellite |
Pathogenic |
197624 |
rs794727697 |
15:42681249-42681251 |
15:42389051-42389053 |
19 |
CAPN3 |
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) |
Duplication |
Pathogenic |
210563 |
rs797045427 |
15:42676695-42676696 |
15:42384497-42384498 |
20 |
CAPN3 |
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) |
SNV |
Pathogenic |
217149 |
rs863224956 |
15:42691839-42691839 |
15:42399641-42399641 |
21 |
CAPN3 |
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) |
Indel |
Pathogenic |
217160 |
rs863224966 |
15:42682232-42682235 |
15:42390034-42390037 |
22 |
CAPN3 |
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) |
SNV |
Pathogenic |
217158 |
rs758795961 |
15:42680018-42680018 |
15:42387820-42387820 |
23 |
CAPN3 |
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) |
SNV |
Pathogenic |
195641 |
rs778768583 |
15:42703156-42703156 |
15:42410958-42410958 |
24 |
CAPN3 |
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) |
SNV |
Pathogenic |
217153 |
rs863224960 |
15:42701525-42701525 |
15:42409327-42409327 |
25 |
CAPN3 |
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) |
Deletion |
Pathogenic |
217159 |
rs863224965 |
15:42681133-42681153 |
15:42388935-42388955 |
26 |
CAPN3 |
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) |
SNV |
Pathogenic |
217150 |
rs863224957 |
15:42693949-42693949 |
15:42401751-42401751 |
27 |
CAPN3 |
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) |
SNV |
Pathogenic |
217152 |
rs863224959 |
15:42695169-42695169 |
15:42402971-42402971 |
28 |
CAPN3 |
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) |
SNV |
Pathogenic |
280038 |
rs776043976 |
15:42691838-42691838 |
15:42399640-42399640 |
29 |
CAPN3 |
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) |
Deletion |
Pathogenic |
286813 |
rs781013226 |
15:42686466-42686466 |
15:42394268-42394268 |
30 |
CAPN3 |
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) |
SNV |
Pathogenic |
282411 |
rs868791726 |
15:42703123-42703123 |
15:42410925-42410925 |
31 |
CAPN3 |
NM_000070.3(CAPN3):c.1801-1G>A |
SNV |
Pathogenic |
287890 |
rs886043752 |
15:42700408-42700408 |
15:42408210-42408210 |
32 |
CAPN3 |
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) |
SNV |
Pathogenic |
285470 |
rs777483913 |
15:42691805-42691805 |
15:42399607-42399607 |
33 |
CAPN3 |
NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs) |
Microsatellite |
Pathogenic |
282536 |
rs886042418 |
15:42702025-42702026 |
15:42409827-42409828 |
34 |
CAPN3 |
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) |
Deletion |
Pathogenic |
281062 |
rs1555421871 |
15:42691815-42691815 |
15:42399617-42399617 |
35 |
CAPN3 |
NM_000070.3(CAPN3):c.2263+1G>A |
SNV |
Pathogenic |
290519 |
rs886044475 |
15:42702865-42702865 |
15:42410667-42410667 |
36 |
CAPN3 |
NM_000070.3(CAPN3):c.2051-1G>T |
SNV |
Pathogenic |
281184 |
rs886042108 |
15:42702128-42702128 |
15:42409930-42409930 |
37 |
CAPN3 |
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter) |
SNV |
Pathogenic |
441261 |
rs1555420475 |
15:42679970-42679970 |
15:42387772-42387772 |
38 |
CAPN3 |
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) |
SNV |
Pathogenic |
497182 |
rs766334893 |
15:42684918-42684918 |
15:42392720-42392720 |
39 |
CAPN3 |
NM_000070.3(CAPN3):c.1524+1G>A |
SNV |
Pathogenic |
536512 |
rs1275289254 |
15:42694009-42694009 |
15:42401811-42401811 |
40 |
CAPN3 |
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs) |
Indel |
Pathogenic |
536516 |
rs1555420642 |
15:42681220-42681223 |
15:42389022-42389025 |
41 |
CAPN3 |
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) |
SNV |
Pathogenic |
548137 |
rs758058910 |
15:42652294-42652294 |
15:42360096-42360096 |
42 |
CAPN3 |
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly) |
SNV |
Pathogenic |
548138 |
rs768090444 |
15:42702843-42702843 |
15:42410645-42410645 |
43 |
CAPN3 |
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) |
SNV |
Pathogenic |
550578 |
rs1555421280 |
15:42686503-42686503 |
15:42394305-42394305 |
44 |
CAPN3 |
NM_000070.3(CAPN3):c.2065_2066AC[2] (p.His690fs) |
Microsatellite |
Pathogenic |
551927 |
rs1555423046 |
15:42702143-42702144 |
15:42409945-42409946 |
45 |
CAPN3 |
NM_000070.3(CAPN3):c.801+1G>A |
SNV |
Pathogenic |
552843 |
rs1459288402 |
15:42681295-42681295 |
15:42389097-42389097 |
46 |
CAPN3 |
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) |
Deletion |
Pathogenic |
552945 |
rs764086484 |
15:42703130-42703133 |
15:42410932-42410935 |
47 |
CAPN3 |
NM_000070.3(CAPN3):c.2050+1G>A |
SNV |
Pathogenic |
553754 |
rs768374736 |
15:42702043-42702043 |
15:42409845-42409845 |
48 |
CAPN3 |
NM_000070.3(CAPN3):c.1524+1G>T |
SNV |
Pathogenic |
554341 |
rs1275289254 |
15:42694009-42694009 |
15:42401811-42401811 |
49 |
CAPN3 |
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) |
Deletion |
Pathogenic |
554906 |
rs1555422832 |
15:42700445-42700445 |
15:42408247-42408247 |
50 |
CAPN3 |
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) |
Deletion |
Pathogenic |
578891 |
rs754761503 |
15:42695963-42695963 |
15:42403765-42403765 |