1 |
DYSF |
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) | ‎‎
SNV |
Pathogenic |
419655 |
rs1064794020 |
2:71906303-71906303 |
2:71679173-71679173 |
2 |
DYSF |
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) | ‎‎
SNV |
Pathogenic |
430739 |
rs1131692158 |
2:71896337-71896337 |
2:71669207-71669207 |
3 |
DYSF |
NM_001130987.2(DYSF):c.922del (p.Glu308fs) | ‎‎
deletion |
Pathogenic |
499095 |
rs1553522133 |
2:71743340-71743340 |
2:71516210-71516210 |
4 |
DYSF |
NM_001130987.2(DYSF):c.730del (p.Leu244fs) | ‎‎
deletion |
Pathogenic |
523646 |
rs1553521119 |
2:71741022-71741022 |
2:71513892-71513892 |
5 |
DYSF |
NM_001130987.2(DYSF):c.5317+1G>A | ‎‎
SNV |
Pathogenic |
538631 |
rs773386253 |
2:71892435-71892435 |
2:71665305-71665305 |
6 |
DYSF |
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) | ‎‎
SNV |
Pathogenic |
556201 |
rs1553521017 |
2:71740914-71740914 |
2:71513784-71513784 |
7 |
DYSF |
NM_001130987.2(DYSF):c.4221+1G>C | ‎‎
SNV |
Pathogenic |
555431 |
rs1474151297 |
2:71838757-71838757 |
2:71611627-71611627 |
8 |
DYSF |
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) | ‎‎
deletion |
Pathogenic |
551669 |
rs766936914 |
2:71755498-71755498 |
2:71528368-71528368 |
9 |
DYSF |
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) | ‎‎
SNV |
Pathogenic |
551845 |
rs199543257 |
2:71791326-71791326 |
2:71564196-71564196 |
10 |
DYSF |
NM_001130987.2(DYSF):c.2698-2A>G | ‎‎
SNV |
Pathogenic |
556235 |
rs1420930684 |
2:71795300-71795300 |
2:71568170-71568170 |
11 |
DYSF |
NM_001130987.2(DYSF):c.890_891CT[1] (p.Leu298fs) | ‎‎
short repeat |
Pathogenic |
555171 |
rs1553522104 |
2:71743311-71743312 |
2:71516181-71516182 |
12 |
DYSF |
NM_001130987.2(DYSF):c.1449+1G>A | ‎‎
SNV |
Pathogenic |
554978 |
rs1553535902 |
2:71762220-71762220 |
2:71535090-71535090 |
13 |
DYSF |
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) | ‎‎
duplication |
Pathogenic |
550946 |
rs1236367931 |
2:71762413-71762414 |
2:71535283-71535284 |
14 |
DYSF |
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) | ‎‎
SNV |
Pathogenic |
557310 |
rs1380642629 |
2:71825774-71825774 |
2:71598644-71598644 |
15 |
DYSF |
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) | ‎‎
SNV |
Pathogenic |
554013 |
rs778092738 |
2:71838459-71838459 |
2:71611329-71611329 |
16 |
DYSF |
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) | ‎‎
SNV |
Pathogenic |
554672 |
rs1553422723 |
2:71909738-71909738 |
2:71682608-71682608 |
17 |
DYSF |
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) | ‎‎
SNV |
Pathogenic |
558274 |
rs763674597 |
2:71827934-71827934 |
2:71600804-71600804 |
18 |
DYSF |
NM_001130987.2(DYSF):c.1577-2A>G | ‎‎
SNV |
Pathogenic |
552023 |
rs1553542142 |
2:71778169-71778169 |
2:71551039-71551039 |
19 |
DYSF |
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) | ‎‎
deletion |
Pathogenic |
619218 |
rs1558771348 |
2:71892316-71892316 |
2:71665186-71665186 |
20 |
DYSF |
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) | ‎‎
deletion |
Pathogenic |
623388 |
rs1456182703 |
2:71766353-71766353 |
2:71539223-71539223 |
21 |
DYSF |
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) | ‎‎
deletion |
Pathogenic |
623361 |
rs1559109621 |
2:71766354-71766354 |
2:71539224-71539224 |
22 |
DYSF |
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) | ‎‎
duplication |
Pathogenic |
632557 |
rs1558783870 |
2:71895940-71895941 |
2:71668810-71668811 |
23 |
DYSF |
NM_001130987.2(DYSF):c.1149+3G>C | ‎‎
SNV |
Pathogenic |
638642 |
|
2:71748037-71748037 |
2:71520907-71520907 |
24 |
DYSF |
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter) | ‎‎
SNV |
Pathogenic |
638644 |
|
2:71791251-71791251 |
2:71564121-71564121 |
25 |
DYSF |
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) | ‎‎
deletion |
Pathogenic |
693997 |
|
2:71744166-71744166 |
2:71517036-71517036 |
26 |
DYSF |
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) | ‎‎
SNV |
Pathogenic |
694065 |
|
2:71901392-71901392 |
2:71674262-71674262 |
27 |
DYSF |
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) | ‎‎
SNV |
Pathogenic |
694000 |
|
2:71838751-71838751 |
2:71611621-71611621 |
28 |
DYSF |
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) | ‎‎
SNV |
Pathogenic |
6676 |
rs121908959 |
2:71901372-71901372 |
2:71674242-71674242 |
29 |
DYSF |
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) | ‎‎
SNV |
Pathogenic |
6677 |
rs121908960 |
2:71780261-71780261 |
2:71553131-71553131 |
30 |
DYSF |
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) | ‎‎
SNV |
Pathogenic |
6678 |
rs121908961 |
2:71894506-71894506 |
2:71667376-71667376 |
31 |
DYSF |
NM_001130987.2(DYSF):c.3497-33A>G | ‎‎
SNV |
Pathogenic |
6680 |
rs786205083 |
2:71817308-71817308 |
2:71590178-71590178 |
32 |
DYSF |
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) | ‎‎
SNV |
Pathogenic |
6681 |
rs121908963 |
2:71744158-71744158 |
2:71517028-71517028 |
33 |
DYSF |
NM_001130987.2(DYSF):c.1381-2A>G | ‎‎
SNV |
Pathogenic |
6683 |
rs786200897 |
2:71762149-71762149 |
2:71535019-71535019 |
34 |
DYSF |
NM_001130987.2(DYSF):c.951+1del | ‎‎
deletion |
Pathogenic |
6684 |
rs786200898 |
2:71743372-71743372 |
2:71516242-71516242 |
35 |
DYSF |
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) | ‎‎
deletion |
Pathogenic |
6685 |
rs727503909 |
2:71795435-71795435 |
2:71568305-71568305 |
36 |
DYSF |
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) | ‎‎
indel |
Pathogenic |
6669 |
rs786200896 |
2:71887767-71887771 |
2:71660637-71660641 |
37 |
DYSF |
NM_001130987.2(DYSF):c.5156_5174+4dup | ‎‎
duplication |
Pathogenic |
6670 |
rs786205082 |
2:71891547-71891548 |
2:71664417-71664418 |
38 |
DYSF |
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) | ‎‎
SNV |
Pathogenic |
6671 |
rs121908956 |
2:71791204-71791204 |
2:71564074-71564074 |
39 |
DYSF |
NM_001130987.2(DYSF):c.5174+5G>A | ‎‎
SNV |
Pathogenic |
6672 |
rs745891180 |
2:71891573-71891573 |
2:71664443-71664443 |
40 |
DYSF |
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) | ‎‎
indel |
Pathogenic |
6673 |
rs121908957 |
2:71709064-71709065 |
2:71481934-71481935 |
41 |
DYSF |
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) | ‎‎
SNV |
Pathogenic |
6674 |
rs28937581 |
2:71797430-71797430 |
2:71570300-71570300 |
42 |
DYSF |
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) | ‎‎
deletion |
Pathogenic |
834073 |
|
2:71894593-71894593 |
2:71667463-71667463 |
43 |
DYSF |
NM_001130987.2(DYSF):c.1380+2T>C | ‎‎
SNV |
Pathogenic |
94266 |
rs398123765 |
2:71755533-71755533 |
2:71528403-71528403 |
44 |
DYSF |
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) | ‎‎
SNV |
Pathogenic |
94269 |
rs202044973 |
2:71762412-71762412 |
2:71535282-71535282 |
45 |
DYSF |
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) | ‎‎
duplication |
Pathogenic |
94271 |
rs398123767 |
2:71762435-71762436 |
2:71535305-71535306 |
46 |
DYSF |
NM_001130987.2(DYSF):c.1577-1692G>A | ‎‎
SNV |
Pathogenic |
94274 |
rs398123770 |
2:71776479-71776479 |
2:71549349-71549349 |
47 |
DYSF |
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) | ‎‎
SNV |
Pathogenic |
94278 |
rs377735262 |
2:71778761-71778761 |
2:71551631-71551631 |
48 |
DYSF |
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) | ‎‎
indel |
Pathogenic |
94305 |
rs398123781 |
2:71817342-71817343 |
2:71590212-71590213 |
49 |
DYSF |
NM_001130987.2(DYSF):c.356del (p.Val119fs) | ‎‎
deletion |
Pathogenic |
94308 |
rs398123782 |
2:71738947-71738947 |
2:71511817-71511817 |
50 |
DYSF |
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) | ‎‎
duplication |
Pathogenic |
94320 |
rs398123786 |
2:71839796-71839797 |
2:71612666-71612667 |