1 |
CARD14 |
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) |
SNV |
Pathogenic |
35573 |
rs387907240 |
17:78157829-78157829 |
17:80184030-80184030 |
2 |
CARD14 |
CARD14, 3-BP DEL, 412GAG |
Deletion |
Pathogenic |
35574 |
|
|
|
3 |
CARD14 |
CARD14, IVS3DS, G-A, +1 |
SNV |
Pathogenic |
35575 |
|
|
|
4 |
SGSH |
NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys) |
SNV |
Uncertain significance |
458096 |
rs577478029 |
17:78178056-78178056 |
17:80204257-80204257 |
5 |
CARD14 |
NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser) |
SNV |
Uncertain significance |
458089 |
rs146855402 |
17:78172298-78172298 |
17:80198499-80198499 |
6 |
CARD14 |
NM_001366385.1(CARD14):c.299A>G (p.Tyr100Cys) |
SNV |
Uncertain significance |
458104 |
rs552779505 |
17:78156539-78156539 |
17:80182740-80182740 |
7 |
CARD14 |
NM_001366385.1(CARD14):c.881C>T (p.Ala294Val) |
SNV |
Uncertain significance |
444417 |
rs139466192 |
17:78163589-78163589 |
17:80189790-80189790 |
8 |
CARD14 |
NM_001366385.1(CARD14):c.203T>C (p.Met68Thr) |
SNV |
Uncertain significance |
458092 |
rs773633754 |
17:78155440-78155440 |
17:80181641-80181641 |
9 |
SGSH |
NM_001366385.1(CARD14):c.2888C>T (p.Ala963Val) |
SNV |
Uncertain significance |
458103 |
rs1176488460 |
17:78182017-78182017 |
17:80208218-80208218 |
10 |
SGSH |
NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr) |
SNV |
Uncertain significance |
458093 |
rs537086902 |
17:78176191-78176191 |
17:80202392-80202392 |
11 |
SGSH |
NM_001366385.1(CARD14):c.2606A>G (p.Gln869Arg) |
SNV |
Uncertain significance |
527866 |
rs529691290 |
17:78179366-78179366 |
17:80205567-80205567 |
12 |
CARD14 |
NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn) |
SNV |
Uncertain significance |
527867 |
rs143747620 |
17:78156474-78156474 |
17:80182675-80182675 |
13 |
SGSH |
NM_001366385.1(CARD14):c.2483G>A (p.Arg828Gln) |
SNV |
Uncertain significance |
527868 |
rs147592804 |
17:78178918-78178918 |
17:80205119-80205119 |
14 |
CARD14 |
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) |
SNV |
Uncertain significance |
68776 |
rs281875220 |
17:78172317-78172317 |
17:80198518-80198518 |
15 |
SGSH |
NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) |
SNV |
Uncertain significance |
527870 |
rs548495951 |
17:78179401-78179401 |
17:80205602-80205602 |
16 |
CARD14 |
NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu) |
SNV |
Uncertain significance |
527871 |
rs776782295 |
17:78169003-78169003 |
17:80195204-80195204 |
17 |
CARD14 |
NM_001366385.1(CARD14):c.1288C>T (p.Arg430Trp) |
SNV |
Uncertain significance |
527872 |
rs142895605 |
17:78166350-78166350 |
17:80192551-80192551 |
18 |
CARD14 |
NM_001366385.1(CARD14):c.556G>A (p.Ala186Thr) |
SNV |
Uncertain significance |
458106 |
rs190213582 |
17:78157918-78157918 |
17:80184119-80184119 |
19 |
CARD14 |
NM_001366385.1(CARD14):c.1356+4C>T |
SNV |
Uncertain significance |
527885 |
rs373428751 |
17:78166422-78166422 |
17:80192623-80192623 |
20 |
CARD14 |
NM_001366385.1(CARD14):c.778G>A (p.Gly260Arg) |
SNV |
Uncertain significance |
565760 |
rs772988369 |
17:78162278-78162278 |
17:80188479-80188479 |
21 |
CARD14 |
NM_001366385.1(CARD14):c.1211G>T (p.Arg404Leu) |
SNV |
Uncertain significance |
566495 |
rs978430125 |
17:78165243-78165243 |
17:80191444-80191444 |
22 |
CARD14 |
NM_001366385.1(CARD14):c.615T>C (p.Tyr205=) |
SNV |
Uncertain significance |
567222 |
rs1042724807 |
17:78157977-78157977 |
17:80184178-80184178 |
23 |
CARD14 |
NM_001366385.1(CARD14):c.1471G>A (p.Asp491Asn) |
SNV |
Uncertain significance |
567346 |
rs149030007 |
17:78169104-78169104 |
17:80195305-80195305 |
24 |
CARD14 |
NM_001366385.1(CARD14):c.937G>A (p.Val313Met) |
SNV |
Uncertain significance |
567741 |
rs759854664 |
17:78163645-78163645 |
17:80189846-80189846 |
25 |
CARD14 |
NM_001366385.1(CARD14):c.1828C>T (p.Arg610Cys) |
SNV |
Uncertain significance |
567960 |
rs371910172 |
17:78172367-78172367 |
17:80198568-80198568 |
26 |
SGSH |
NM_001366385.1(CARD14):c.2279G>A (p.Arg760His) |
SNV |
Uncertain significance |
569055 |
rs143600438 |
17:78177680-78177680 |
17:80203881-80203881 |
27 |
CARD14 |
NM_001366385.1(CARD14):c.545G>A (p.Arg182His) |
SNV |
Uncertain significance |
569336 |
rs149514734 |
17:78157907-78157907 |
17:80184108-80184108 |
28 |
CARD14 |
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) |
SNV |
Uncertain significance |
68783 |
rs199517469 |
17:78157898-78157898 |
17:80184099-80184099 |
29 |
CARD14 |
NM_001366385.1(CARD14):c.1046C>T (p.Ala349Val) |
SNV |
Uncertain significance |
570720 |
rs770212092 |
17:78164655-78164655 |
17:80190856-80190856 |
30 |
SGSH |
NM_001366385.1(CARD14):c.2786_2788AGA[1] (p.Lys930del) |
Microsatellite |
Uncertain significance |
572300 |
rs1474412398 |
17:78180863-78180865 |
17:80207064-80207066 |
31 |
CARD14 |
NM_001366385.1(CARD14):c.827C>A (p.Ser276Ter) |
SNV |
Uncertain significance |
573655 |
rs149318654 |
17:78162327-78162327 |
17:80188528-80188528 |
32 |
CARD14 |
NM_001366385.1(CARD14):c.1658+9_1658+11del |
Microsatellite |
Uncertain significance |
573934 |
rs773281285 |
17:78171965-78171967 |
17:80198166-80198168 |
33 |
SGSH |
NM_001366385.1(CARD14):c.1977C>T (p.Asp659=) |
SNV |
Uncertain significance |
574056 |
rs200737962 |
17:78175668-78175668 |
17:80201869-80201869 |
34 |
CARD14 |
NM_001366385.1(CARD14):c.963+6G>A |
SNV |
Uncertain significance |
574789 |
rs376630011 |
17:78163677-78163677 |
17:80189878-80189878 |
35 |
SGSH |
NM_001366385.1(CARD14):c.2353C>T (p.Arg785Cys) |
SNV |
Uncertain significance |
575580 |
rs146332779 |
17:78178095-78178095 |
17:80204296-80204296 |
36 |
SGSH |
NM_001366385.1(CARD14):c.2315G>A (p.Arg772His) |
SNV |
Uncertain significance |
576943 |
rs746635931 |
17:78178057-78178057 |
17:80204258-80204258 |
37 |
SGSH |
NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) |
SNV |
Uncertain significance |
576948 |
rs950950885 |
17:78178952-78178952 |
17:80205153-80205153 |
38 |
CARD14 |
NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu) |
SNV |
Uncertain significance |
579124 |
rs201449588 |
17:78171955-78171955 |
17:80198156-80198156 |
39 |
CARD14 |
NM_001366385.1(CARD14):c.843+1G>T |
SNV |
Uncertain significance |
579208 |
rs1567877527 |
17:78162344-78162344 |
17:80188545-80188545 |
40 |
CARD14 |
NM_001366385.1(CARD14):c.1330G>A (p.Asp444Asn) |
SNV |
Uncertain significance |
580131 |
rs774755867 |
17:78166392-78166392 |
17:80192593-80192593 |
41 |
CARD14 |
NM_001366385.1(CARD14):c.131G>A (p.Arg44His) |
SNV |
Uncertain significance |
582121 |
rs746969281 |
17:78155368-78155368 |
17:80181569-80181569 |
42 |
SGSH |
NM_001366385.1(CARD14):c.1927C>T (p.Leu643Phe) |
SNV |
Uncertain significance |
582296 |
rs767152556 |
17:78175618-78175618 |
17:80201819-80201819 |
43 |
SGSH |
NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met) |
SNV |
Uncertain significance |
583194 |
rs141847758 |
17:78175592-78175592 |
17:80201793-80201793 |
44 |
CARD14 |
NM_001366385.1(CARD14):c.843G>A (p.Leu281=) |
SNV |
Uncertain significance |
639077 |
rs1332503520 |
17:78162343-78162343 |
17:80188544-80188544 |
45 |
CARD14 |
NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg) |
SNV |
Uncertain significance |
640077 |
rs193262780 |
17:78156490-78156490 |
17:80182691-80182691 |
46 |
CARD14 |
NM_001366385.1(CARD14):c.1232C>T (p.Pro411Leu) |
SNV |
Uncertain significance |
640300 |
rs564433759 |
17:78165264-78165264 |
17:80191465-80191465 |
47 |
SGSH |
NM_001366385.1(CARD14):c.1973C>T (p.Thr658Met) |
SNV |
Uncertain significance |
640433 |
rs769208715 |
17:78175664-78175664 |
17:80201865-80201865 |
48 |
SGSH |
NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) |
SNV |
Uncertain significance |
640610 |
rs538251591 |
17:78178908-78178908 |
17:80205109-80205109 |
49 |
CARD14 |
NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys) |
SNV |
Uncertain significance |
641060 |
rs775291378 |
17:78163585-78163585 |
17:80189786-80189786 |
50 |
SGSH |
NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln) |
SNV |
Uncertain significance |
641359 |
rs183322775 |
17:78178912-78178912 |
17:80205113-80205113 |