1 |
CTSK |
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) |
SNV |
Pathogenic
|
8424 |
rs74315305 |
GRCh37: 1:150778585-150778585 GRCh38: 1:150806109-150806109 |
2 |
CTSK |
NM_000396.4(CTSK):c.154A>T (p.Lys52Ter) |
SNV |
Pathogenic
|
8425 |
rs74315306 |
GRCh37: 1:150778667-150778667 GRCh38: 1:150806191-150806191 |
3 |
CTSK |
NM_000396.4(CTSK):c.990A>G (p.Ter330Trp) |
SNV |
Pathogenic
|
8420 |
rs74315301 |
GRCh37: 1:150769275-150769275 GRCh38: 1:150796799-150796799 |
4 |
CTSK |
NM_000396.4(CTSK):c.891-1G>T |
SNV |
Pathogenic
|
623333 |
rs1557823855 |
GRCh37: 1:150769375-150769375 GRCh38: 1:150796899-150796899 |
5 |
CTSK |
NM_000396.4(CTSK):c.5G>A (p.Trp2Ter) |
SNV |
Pathogenic
|
982107 |
rs1654102585 |
GRCh37: 1:150779277-150779277 GRCh38: 1:150806801-150806801 |
6 |
CTSK |
NM_000396.4(CTSK):c.458del (p.Lys153fs) |
DEL |
Pathogenic
|
981506 |
|
GRCh37: 1:150776657-150776657 GRCh38: 1:150804181-150804181 |
7 |
CTSK |
NM_000396.4(CTSK):c.907G>A (p.Gly303Arg) |
SNV |
Pathogenic
|
981508 |
|
GRCh37: 1:150769358-150769358 GRCh38: 1:150796882-150796882 |
8 |
CTSK |
NM_000396.4(CTSK):c.402del (p.Gln135fs) |
DEL |
Pathogenic
|
981511 |
|
GRCh37: 1:150776713-150776713 GRCh38: 1:150804237-150804237 |
9 |
CTSK |
NM_000396.4(CTSK):c.120+1G>T |
SNV |
Pathogenic
|
1332837 |
|
GRCh37: 1:150779161-150779161 GRCh38: 1:150806685-150806685 |
10 |
CTSK |
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) |
SNV |
Pathogenic
|
8421 |
rs74315302 |
GRCh37: 1:150776679-150776679 GRCh38: 1:150804203-150804203 |
11 |
CTSK |
NM_000396.4(CTSK):c.158dup (p.Asn53fs) |
DUP |
Pathogenic
|
954275 |
rs764168526 |
GRCh37: 1:150778662-150778663 GRCh38: 1:150806186-150806187 |
12 |
CTSK |
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) |
SNV |
Pathogenic
|
649051 |
rs762780994 |
GRCh37: 1:150769312-150769312 GRCh38: 1:150796836-150796836 |
13 |
CTSK |
NM_000396.4(CTSK):c.83dup (p.Trp29fs) |
DUP |
Pathogenic
|
1685684 |
|
GRCh37: 1:150779198-150779199 GRCh38: 1:150806722-150806723 |
14 |
CTSK |
NM_000396.4(CTSK):c.399+1G>A |
SNV |
Pathogenic
|
1332709 |
|
GRCh37: 1:150778336-150778336 GRCh38: 1:150805860-150805860 |
15 |
CTSK |
NM_000396.4(CTSK):c.431_432del (p.Ser144fs) |
MICROSAT |
Pathogenic
|
981509 |
|
GRCh37: 1:150776683-150776684 GRCh38: 1:150804207-150804208 |
16 |
CTSK |
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) |
SNV |
Pathogenic/Likely Pathogenic
|
371328 |
rs202040269 |
GRCh37: 1:150776547-150776547 GRCh38: 1:150804071-150804071 |
17 |
CTSK |
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) |
INSERT |
Likely Pathogenic
|
370625 |
rs758450569 |
GRCh37: 1:150772124-150772125 GRCh38: 1:150799648-150799649 |
18 |
CTSK |
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) |
SNV |
Likely Pathogenic
|
371412 |
rs1057517252 |
GRCh37: 1:150779256-150779256 GRCh38: 1:150806780-150806780 |
19 |
CTSK |
NM_000396.4(CTSK):c.648del (p.Lys217fs) |
DEL |
Likely Pathogenic
|
370951 |
rs1057516891 |
GRCh37: 1:150772156-150772156 GRCh38: 1:150799680-150799680 |
20 |
CTSK |
NM_000396.4(CTSK):c.426del (p.Phe142fs) |
DEL |
Likely Pathogenic
|
370473 |
rs1057516514 |
GRCh37: 1:150776689-150776689 GRCh38: 1:150804213-150804213 |
21 |
CTSK |
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) |
SNV |
Likely Pathogenic
|
370960 |
rs375958814 |
GRCh37: 1:150769331-150769331 GRCh38: 1:150796855-150796855 |
22 |
CTSK |
NM_000396.4(CTSK):c.121-2A>G |
SNV |
Likely Pathogenic
|
370558 |
rs1057516587 |
GRCh37: 1:150778702-150778702 GRCh38: 1:150806226-150806226 |
23 |
CTSK |
NM_000396.4(CTSK):c.120+1G>A |
SNV |
Likely Pathogenic
|
371447 |
rs1057517279 |
GRCh37: 1:150779161-150779161 GRCh38: 1:150806685-150806685 |
24 |
CTSK |
NM_000396.4(CTSK):c.399+2del |
DEL |
Likely Pathogenic
|
370882 |
rs1057516839 |
GRCh37: 1:150778335-150778335 GRCh38: 1:150805859-150805859 |
25 |
CTSK |
NM_000396.4(CTSK):c.423_450del (p.Phe142fs) |
DEL |
Likely Pathogenic
|
370610 |
rs1057516627 |
GRCh37: 1:150776665-150776692 GRCh38: 1:150804189-150804216 |
26 |
CTSK |
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) |
SNV |
Likely Pathogenic
|
370345 |
rs780202604 |
GRCh37: 1:150778608-150778608 GRCh38: 1:150806132-150806132 |
27 |
CTSK |
NM_000396.4(CTSK):c.395dup (p.Asn132fs) |
DUP |
Likely Pathogenic
|
370731 |
rs1057516725 |
GRCh37: 1:150778340-150778341 GRCh38: 1:150805864-150805865 |
28 |
CTSK |
NM_000396.4(CTSK):c.3G>T (p.Met1Ile) |
SNV |
Likely Pathogenic
|
371240 |
rs778368118 |
GRCh37: 1:150779279-150779279 GRCh38: 1:150806803-150806803 |
29 |
CTSK |
NM_000396.4(CTSK):c.48del (p.Tyr17fs) |
DEL |
Likely Pathogenic
|
370816 |
rs1057516790 |
GRCh37: 1:150779234-150779234 GRCh38: 1:150806758-150806758 |
30 |
CTSK |
NM_000396.4(CTSK):c.826C>T (p.His276Tyr) |
SNV |
Likely Pathogenic
|
801542 |
rs1571123333 |
GRCh37: 1:150771708-150771708 GRCh38: 1:150799232-150799232 |
31 |
CTSK |
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) |
SNV |
Likely Pathogenic
|
8423 |
rs74315304 |
GRCh37: 1:150771704-150771704 GRCh38: 1:150799228-150799228 |
32 |
CTSK |
NM_000396.4(CTSK):c.243+1G>A |
SNV |
Likely Pathogenic
|
371429 |
rs1057517263 |
GRCh37: 1:150778577-150778577 GRCh38: 1:150806101-150806101 |
33 |
CTSK |
NM_000396.4(CTSK):c.289_290del (p.Leu97fs) |
DEL |
Likely Pathogenic
|
371513 |
rs773943327 |
GRCh37: 1:150778446-150778447 GRCh38: 1:150805970-150805971 |
34 |
CTSK |
NM_000396.4(CTSK):c.669del (p.Tyr224fs) |
DEL |
Likely Pathogenic
|
550217 |
rs1553196945 |
GRCh37: 1:150772135-150772135 GRCh38: 1:150799659-150799659 |
35 |
CTSK |
NM_000396.4(CTSK):c.400-1G>C |
SNV |
Likely Pathogenic
|
550892 |
rs1553197262 |
GRCh37: 1:150776716-150776716 GRCh38: 1:150804240-150804240 |
36 |
CTSK |
NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs) |
INDEL |
Likely Pathogenic
|
551101 |
rs1553197239 |
GRCh37: 1:150776538-150776539 GRCh38: 1:150804062-150804063 |
37 |
CTSK |
NM_000396.4(CTSK):c.618+1G>A |
SNV |
Likely Pathogenic
|
551416 |
rs1553197230 |
GRCh37: 1:150776496-150776496 GRCh38: 1:150804020-150804020 |
38 |
CTSK |
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) |
SNV |
Likely Pathogenic
|
551507 |
rs1553196900 |
GRCh37: 1:150771658-150771658 GRCh38: 1:150799182-150799182 |
39 |
CTSK |
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) |
SNV |
Likely Pathogenic
|
551777 |
rs778368118 |
GRCh37: 1:150779279-150779279 GRCh38: 1:150806803-150806803 |
40 |
CTSK |
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) |
SNV |
Likely Pathogenic
|
8426 |
rs29001685 |
GRCh37: 1:150769339-150769339 GRCh38: 1:150796863-150796863 |
41 |
CTSK |
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) |
SNV |
Likely Pathogenic
|
8422 |
rs74315303 |
GRCh37: 1:150772083-150772083 GRCh38: 1:150799607-150799607 |
42 |
CTSK |
NM_000396.4(CTSK):c.784+1G>A |
SNV |
Likely Pathogenic
|
551299 |
rs1553196934 |
GRCh37: 1:150772019-150772019 GRCh38: 1:150799543-150799543 |
43 |
CTSK |
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) |
SNV |
Likely Pathogenic
|
553560 |
rs371277428 |
GRCh37: 1:150778685-150778685 GRCh38: 1:150806209-150806209 |
44 |
CTSK |
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) |
SNV |
Likely Pathogenic
|
371426 |
rs375958814 |
GRCh37: 1:150769331-150769331 GRCh38: 1:150796855-150796855 |
45 |
CTSK |
NM_000396.4(CTSK):c.826del (p.His276fs) |
DEL |
Likely Pathogenic
|
556938 |
rs1553196906 |
GRCh37: 1:150771708-150771708 GRCh38: 1:150799232-150799232 |
46 |
CTSK |
NM_000396.4(CTSK):c.148T>G (p.Trp50Gly) |
SNV |
Likely Pathogenic
|
1332840 |
|
GRCh37: 1:150778673-150778673 GRCh38: 1:150806197-150806197 |
47 |
CTSK |
NM_000396.4(CTSK):c.827A>G (p.His276Arg) |
SNV |
Likely Pathogenic
|
983497 |
|
GRCh37: 1:150771707-150771707 GRCh38: 1:150799231-150799231 |
48 |
CTSK |
NM_000396.4(CTSK):c.746T>A (p.Ile249Asn) |
SNV |
Likely Pathogenic
|
1301984 |
|
GRCh37: 1:150772058-150772058 GRCh38: 1:150799582-150799582 |
49 |
CTSK |
NM_000396.4(CTSK):c.556T>C (p.Phe186Leu) |
SNV |
Likely Pathogenic
|
981507 |
|
GRCh37: 1:150776559-150776559 GRCh38: 1:150804083-150804083 |
50 |
CTSK |
NM_000396.4(CTSK):c.891-21_892dup |
DUP |
Likely Pathogenic
|
554307 |
rs1553196764 |
GRCh37: 1:150769372-150769373 GRCh38: 1:150796896-150796897 |