1 |
SC5D |
NM_006918.5(SC5D):c.86G>A (p.Arg29Gln) |
SNV |
Pathogenic
|
7354 |
rs104894295 |
GRCh37: 11:121174170-121174170 GRCh38: 11:121303461-121303461 |
2 |
SC5D |
NM_006918.5(SC5D):c.632G>A (p.Gly211Asp) |
SNV |
Pathogenic
|
7355 |
rs104894296 |
GRCh37: 11:121177953-121177953 GRCh38: 11:121307244-121307244 |
3 |
SC5D |
NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser) |
SNV |
Pathogenic
|
7356 |
rs104894297 |
GRCh37: 11:121174221-121174221 GRCh38: 11:121303512-121303512 |
4 |
SC5D |
NM_006918.5(SC5D):c.630C>A (p.Asp210Glu) |
SNV |
Pathogenic
|
916041 |
rs760167278 |
GRCh37: 11:121177951-121177951 GRCh38: 11:121307242-121307242 |
5 |
SC5D |
NM_006918.5(SC5D):c.479C>G (p.Pro160Arg) |
SNV |
Pathogenic
|
916042 |
rs1947971579 |
GRCh37: 11:121177800-121177800 GRCh38: 11:121307091-121307091 |
6 |
SC5D |
NM_006918.5(SC5D):c.223C>T (p.Arg75Ter) |
SNV |
Pathogenic
|
638393 |
rs1313359281 |
GRCh37: 11:121175082-121175082 GRCh38: 11:121304373-121304373 |
7 |
SC5D |
NM_006918.5(SC5D):c.268_269del (p.Leu90fs) |
DEL |
Likely Pathogenic
|
1679342 |
|
GRCh37: 11:121175126-121175127 GRCh38: 11:121304417-121304418 |
8 |
SC5D |
NM_006918.5(SC5D):c.753C>T (p.Gly251=) |
SNV |
Uncertain Significance
|
303056 |
rs201959036 |
GRCh37: 11:121178074-121178074 GRCh38: 11:121307365-121307365 |
9 |
SC5D |
NM_006918.5(SC5D):c.608T>C (p.Ile203Thr) |
SNV |
Uncertain Significance
|
1722313 |
|
GRCh37: 11:121177929-121177929 GRCh38: 11:121307220-121307220 |
10 |
SC5D |
NM_006918.4(SC5D):c.-127T>G |
SNV |
Uncertain Significance
|
303048 |
rs886047847 |
GRCh37: 11:121163409-121163409 GRCh38: 11:121292700-121292700 |
11 |
SC5D |
NM_006918.4(SC5D):c.-94C>G |
SNV |
Uncertain Significance
|
303049 |
rs886047848 |
GRCh37: 11:121163442-121163442 GRCh38: 11:121292733-121292733 |
12 |
SC5D |
NM_006918.4(SC5D):c.-91C>G |
SNV |
Uncertain Significance
|
303050 |
rs886047849 |
GRCh37: 11:121163445-121163445 GRCh38: 11:121292736-121292736 |
13 |
SC5D |
NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) |
SNV |
Uncertain Significance
|
811763 |
rs775350797 |
GRCh37: 11:121177193-121177193 GRCh38: 11:121306484-121306484 |
14 |
SC5D |
NM_006918.5(SC5D):c.344-15C>T |
SNV |
Uncertain Significance
|
877943 |
rs570720353 |
GRCh37: 11:121177080-121177080 GRCh38: 11:121306371-121306371 |
15 |
SC5D |
NM_006918.5(SC5D):c.656T>C (p.Leu219Ser) |
SNV |
Uncertain Significance
|
1333349 |
|
GRCh37: 11:121177977-121177977 GRCh38: 11:121307268-121307268 |
16 |
SC5D |
NM_006918.5(SC5D):c.535C>T (p.Pro179Ser) |
SNV |
Uncertain Significance
|
1679319 |
|
GRCh37: 11:121177856-121177856 GRCh38: 11:121307147-121307147 |
17 |
SC5D |
NM_006918.5(SC5D):c.*3346G>A |
SNV |
Uncertain Significance
|
303096 |
rs745556623 |
GRCh37: 11:121181567-121181567 GRCh38: 11:121310858-121310858 |
18 |
SC5D |
NM_006918.5(SC5D):c.*4576T>A |
SNV |
Uncertain Significance
|
880035 |
rs183742147 |
GRCh37: 11:121182797-121182797 GRCh38: 11:121312088-121312088 |
19 |
SC5D |
NM_006918.5(SC5D):c.*4756A>G |
SNV |
Uncertain Significance
|
880036 |
rs566838476 |
GRCh37: 11:121182977-121182977 GRCh38: 11:121312268-121312268 |
20 |
SC5D |
NM_006918.5(SC5D):c.*4454G>A |
SNV |
Uncertain Significance
|
879669 |
rs1026656844 |
GRCh37: 11:121182675-121182675 GRCh38: 11:121311966-121311966 |
21 |
SC5D |
NM_006918.5(SC5D):c.*4469G>A |
SNV |
Uncertain Significance
|
879670 |
rs73017147 |
GRCh37: 11:121182690-121182690 GRCh38: 11:121311981-121311981 |
22 |
SC5D |
NM_006918.5(SC5D):c.151A>G (p.Thr51Ala) |
SNV |
Uncertain Significance
|
879882 |
rs1565568966 |
GRCh37: 11:121174235-121174235 GRCh38: 11:121303526-121303526 |
23 |
SC5D |
NM_006918.5(SC5D):c.181G>A (p.Ala61Thr) |
SNV |
Uncertain Significance
|
879883 |
rs1947941103 |
GRCh37: 11:121174265-121174265 GRCh38: 11:121303556-121303556 |
24 |
SC5D |
NM_006918.5(SC5D):c.*1305A>C |
SNV |
Uncertain Significance
|
879925 |
rs750271628 |
GRCh37: 11:121179526-121179526 GRCh38: 11:121308817-121308817 |
25 |
SC5D |
NM_006918.5(SC5D):c.*2879G>T |
SNV |
Uncertain Significance
|
879972 |
rs1948000294 |
GRCh37: 11:121181100-121181100 GRCh38: 11:121310391-121310391 |
26 |
SC5D |
NM_006918.5(SC5D):c.*3003T>A |
SNV |
Uncertain Significance
|
879973 |
rs915768614 |
GRCh37: 11:121181224-121181224 GRCh38: 11:121310515-121310515 |
27 |
SC5D |
NM_006918.5(SC5D):c.*3006C>T |
SNV |
Uncertain Significance
|
879974 |
rs890214835 |
GRCh37: 11:121181227-121181227 GRCh38: 11:121310518-121310518 |
28 |
SC5D |
NM_006918.5(SC5D):c.*3065C>T |
SNV |
Uncertain Significance
|
879975 |
rs756525915 |
GRCh37: 11:121181286-121181286 GRCh38: 11:121310577-121310577 |
29 |
SC5D |
NM_006918.5(SC5D):c.*3246C>T |
SNV |
Uncertain Significance
|
877183 |
rs1274821065 |
GRCh37: 11:121181467-121181467 GRCh38: 11:121310758-121310758 |
30 |
SC5D |
NM_006918.5(SC5D):c.*5200C>T |
SNV |
Uncertain Significance
|
877241 |
rs183946033 |
GRCh37: 11:121183421-121183421 GRCh38: 11:121312712-121312712 |
31 |
SC5D |
NM_006918.5(SC5D):c.*5210C>T |
SNV |
Uncertain Significance
|
877242 |
rs1948020352 |
GRCh37: 11:121183431-121183431 GRCh38: 11:121312722-121312722 |
32 |
SC5D |
NM_006918.5(SC5D):c.*5255A>T |
SNV |
Uncertain Significance
|
877243 |
rs557724633 |
GRCh37: 11:121183476-121183476 GRCh38: 11:121312767-121312767 |
33 |
SC5D |
NM_006918.5(SC5D):c.*5260A>G |
SNV |
Uncertain Significance
|
877244 |
rs565484939 |
GRCh37: 11:121183481-121183481 GRCh38: 11:121312772-121312772 |
34 |
SC5D |
NM_006918.5(SC5D):c.624T>G (p.Ile208Met) |
SNV |
Uncertain Significance
|
877944 |
rs1947973083 |
GRCh37: 11:121177945-121177945 GRCh38: 11:121307236-121307236 |
35 |
SC5D |
NM_006918.5(SC5D):c.662C>T (p.Pro221Leu) |
SNV |
Uncertain Significance
|
877945 |
rs1947973564 |
GRCh37: 11:121177983-121177983 GRCh38: 11:121307274-121307274 |
36 |
SC5D |
NM_006918.5(SC5D):c.843A>G (p.Ser281=) |
SNV |
Uncertain Significance
|
878105 |
rs778899115 |
GRCh37: 11:121178164-121178164 GRCh38: 11:121307455-121307455 |
37 |
SC5D |
NM_006918.5(SC5D):c.*99C>T |
SNV |
Uncertain Significance
|
878106 |
rs1947977662 |
GRCh37: 11:121178320-121178320 GRCh38: 11:121307611-121307611 |
38 |
SC5D |
NM_006918.5(SC5D):c.*160G>A |
SNV |
Uncertain Significance
|
878107 |
rs568068471 |
GRCh37: 11:121178381-121178381 GRCh38: 11:121307672-121307672 |
39 |
SC5D |
NM_006918.5(SC5D):c.*229G>A |
SNV |
Uncertain Significance
|
878108 |
rs928598332 |
GRCh37: 11:121178450-121178450 GRCh38: 11:121307741-121307741 |
40 |
SC5D |
NM_006918.5(SC5D):c.*2212C>A |
SNV |
Uncertain Significance
|
878152 |
rs930790807 |
GRCh37: 11:121180433-121180433 GRCh38: 11:121309724-121309724 |
41 |
SC5D |
NM_006918.5(SC5D):c.*2363G>A |
SNV |
Uncertain Significance
|
878153 |
rs1947996125 |
GRCh37: 11:121180584-121180584 GRCh38: 11:121309875-121309875 |
42 |
SC5D |
NM_006918.5(SC5D):c.*2430C>T |
SNV |
Uncertain Significance
|
878154 |
rs529785402 |
GRCh37: 11:121180651-121180651 GRCh38: 11:121309942-121309942 |
43 |
SC5D |
NM_006918.5(SC5D):c.*5440A>G |
SNV |
Uncertain Significance
|
878285 |
rs1948022595 |
GRCh37: 11:121183661-121183661 GRCh38: 11:121312952-121312952 |
44 |
SC5D |
NM_006918.5(SC5D):c.*5717C>G |
SNV |
Uncertain Significance
|
878286 |
rs912515665 |
GRCh37: 11:121183938-121183938 GRCh38: 11:121313229-121313229 |
45 |
SC5D |
NM_006918.5(SC5D):c.*5855G>A |
SNV |
Uncertain Significance
|
878882 |
rs762824572 |
GRCh37: 11:121184076-121184076 GRCh38: 11:121313367-121313367 |
46 |
SC5D |
NM_006918.5(SC5D):c.*582A>G |
SNV |
Uncertain Significance
|
879562 |
rs11551924 |
GRCh37: 11:121178803-121178803 GRCh38: 11:121308094-121308094 |
47 |
SC5D |
NM_006918.5(SC5D):c.*584C>T |
SNV |
Uncertain Significance
|
879563 |
rs1035758340 |
GRCh37: 11:121178805-121178805 GRCh38: 11:121308096-121308096 |
48 |
SC5D |
NM_006918.5(SC5D):c.*622C>T |
SNV |
Uncertain Significance
|
879564 |
rs184338020 |
GRCh37: 11:121178843-121178843 GRCh38: 11:121308134-121308134 |
49 |
SC5D |
NM_006918.5(SC5D):c.*628C>T |
SNV |
Uncertain Significance
|
879565 |
rs973950376 |
GRCh37: 11:121178849-121178849 GRCh38: 11:121308140-121308140 |
50 |
SC5D |
NM_006918.5(SC5D):c.*2802A>T |
SNV |
Uncertain Significance
|
879614 |
rs1947999658 |
GRCh37: 11:121181023-121181023 GRCh38: 11:121310314-121310314 |