1 |
CSF3R |
NM_000760.4(CSF3R):c.948_963del (p.His317fs) |
DEL |
Pathogenic
|
242629 |
rs606231475 |
GRCh37: 1:36937873-36937888 GRCh38: 1:36472272-36472287 |
2 |
CSF3R |
NM_000760.4(CSF3R):c.1245del (p.Thr416fs) |
DEL |
Pathogenic
|
242630 |
rs606231474 |
GRCh37: 1:36937074-36937074 GRCh38: 1:36471473-36471473 |
3 |
CSF3R |
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) |
SNV |
Pathogenic
|
161982 |
rs606231473 |
GRCh37: 1:36937914-36937914 GRCh38: 1:36472313-36472313 |
4 |
CSF3R |
NM_000760.4(CSF3R):c.843+2T>C |
SNV |
Pathogenic
|
1033125 |
rs1650834071 |
GRCh37: 1:36938116-36938116 GRCh38: 1:36472515-36472515 |
5 |
CSF3R |
NM_000760.4(CSF3R):c.189G>A (p.Trp63Ter) |
SNV |
Pathogenic
|
1322165 |
|
GRCh37: 1:36941150-36941150 GRCh38: 1:36475549-36475549 |
6 |
CSF3R |
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) |
INDEL |
Pathogenic
|
1372222 |
|
GRCh37: 1:36939059-36939067 GRCh38: 1:36473458-36473466 |
7 |
CSF3R |
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) |
SNV |
Pathogenic
|
1416044 |
|
GRCh37: 1:36941261-36941261 GRCh38: 1:36475660-36475660 |
8 |
CSF3R |
NM_000760.4(CSF3R):c.218dup (p.Arg74fs) |
DUP |
Pathogenic
|
1410136 |
|
GRCh37: 1:36941120-36941121 GRCh38: 1:36475519-36475520 |
9 |
CSF3R |
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) |
SNV |
Pathogenic
|
1431609 |
|
GRCh37: 1:36934808-36934808 GRCh38: 1:36469207-36469207 |
10 |
CSF3R |
NM_000760.4(CSF3R):c.1072-1G>C |
SNV |
Pathogenic
|
1453348 |
|
GRCh37: 1:36937248-36937248 GRCh38: 1:36471647-36471647 |
11 |
CSF3R |
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) |
DEL |
Pathogenic
|
649220 |
rs1570588220 |
GRCh37: 1:36937873-36937901 GRCh38: 1:36472272-36472300 |
12 |
CSF3R |
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) |
SNV |
Pathogenic
|
812885 |
rs756667927 |
GRCh37: 1:36940999-36940999 GRCh38: 1:36475398-36475398 |
13 |
CSF3R |
NM_000760.4(CSF3R):c.1404del (p.Ser469fs) |
DEL |
Pathogenic
|
971335 |
rs747437399 |
GRCh37: 1:36935323-36935323 GRCh38: 1:36469722-36469722 |
14 |
CSF3R |
NM_000760.4(CSF3R):c.1216dup (p.Val406fs) |
DUP |
Pathogenic
|
542855 |
rs890101650 |
GRCh37: 1:36937102-36937103 GRCh38: 1:36471501-36471502 |
15 |
CSF3R |
NM_000760.4(CSF3R):c.799del (p.Glu267fs) |
DEL |
Pathogenic
|
542856 |
rs759302795 |
GRCh37: 1:36938162-36938162 GRCh38: 1:36472561-36472561 |
16 |
CSF3R |
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) |
DEL |
Pathogenic
|
655386 |
rs757401069 |
GRCh37: 1:36941118-36941136 GRCh38: 1:36475517-36475535 |
17 |
CSF3R |
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) |
SNV |
Pathogenic
|
1070139 |
|
GRCh37: 1:36945066-36945066 GRCh38: 1:36479465-36479465 |
18 |
CSF3R |
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) |
SNV |
Pathogenic
|
1073345 |
|
GRCh37: 1:36935339-36935339 GRCh38: 1:36469738-36469738 |
19 |
CSF3R |
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) |
SNV |
Pathogenic
|
570920 |
rs138156467 |
GRCh37: 1:36933759-36933759 GRCh38: 1:36468158-36468158 |
20 |
CSF3R |
NM_000760.4(CSF3R):c.998-1G>A |
SNV |
Likely Pathogenic
|
1509271 |
|
GRCh37: 1:36937741-36937741 GRCh38: 1:36472140-36472140 |
21 |
CSF3R |
NM_000760.4(CSF3R):c.998-2A>T |
SNV |
Likely Pathogenic
|
242835 |
rs879253750 |
GRCh37: 1:36937742-36937742 GRCh38: 1:36472141-36472141 |
22 |
CSF3R |
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) |
SNV |
Likely Pathogenic
|
208339 |
rs796065343 |
GRCh37: 1:36933434-36933434 GRCh38: 1:36467833-36467833 |
23 |
CSF3R |
NM_000760.4(CSF3R):c.106G>A (p.Val36Ile) |
SNV |
Uncertain Significance
|
952539 |
rs369635490 |
GRCh37: 1:36941233-36941233 GRCh38: 1:36475632-36475632 |
24 |
CSF3R |
NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) |
SNV |
Uncertain Significance
|
962850 |
rs1183274433 |
GRCh37: 1:36932088-36932088 GRCh38: 1:36466487-36466487 |
25 |
CSF3R |
NM_000760.4(CSF3R):c.973C>G (p.Leu325Val) |
SNV |
Uncertain Significance
|
966698 |
rs559114400 |
GRCh37: 1:36937863-36937863 GRCh38: 1:36472262-36472262 |
26 |
CSF3R |
NM_000760.4(CSF3R):c.664A>G (p.Met222Val) |
SNV |
Uncertain Significance
|
1000996 |
rs1650909656 |
GRCh37: 1:36939045-36939045 GRCh38: 1:36473444-36473444 |
27 |
CSF3R |
NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg) |
SNV |
Uncertain Significance
|
1015863 |
rs200059719 |
GRCh37: 1:36945037-36945037 GRCh38: 1:36479436-36479436 |
28 |
CSF3R |
NM_000760.4(CSF3R):c.923G>A (p.Arg308His) |
SNV |
Uncertain Significance
|
1018997 |
rs148747030 |
GRCh37: 1:36937913-36937913 GRCh38: 1:36472312-36472312 |
29 |
CSF3R |
NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) |
SNV |
Uncertain Significance
|
1034533 |
rs201991840 |
GRCh37: 1:36937925-36937925 GRCh38: 1:36472324-36472324 |
30 |
CSF3R |
NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val) |
SNV |
Uncertain Significance
|
1043993 |
rs766343562 |
GRCh37: 1:36932302-36932302 GRCh38: 1:36466701-36466701 |
31 |
CSF3R |
NM_000760.4(CSF3R):c.843+3G>A |
SNV |
Uncertain Significance
|
1059715 |
|
GRCh37: 1:36938115-36938115 GRCh38: 1:36472514-36472514 |
32 |
CSF3R |
NM_000760.4(CSF3R):c.1286-3C>T |
SNV |
Uncertain Significance
|
542861 |
rs778391319 |
GRCh37: 1:36935444-36935444 GRCh38: 1:36469843-36469843 |
33 |
CSF3R |
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) |
SNV |
Uncertain Significance
|
434843 |
rs148307285 |
GRCh37: 1:36941067-36941067 GRCh38: 1:36475466-36475466 |
34 |
CSF3R |
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) |
SNV |
Uncertain Significance
|
665158 |
rs370491074 |
GRCh37: 1:36932339-36932339 GRCh38: 1:36466738-36466738 |
35 |
CSF3R |
NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln) |
SNV |
Uncertain Significance
|
434841 |
rs369185176 |
GRCh37: 1:36937710-36937710 GRCh38: 1:36472109-36472109 |
36 |
CSF3R |
NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu) |
SNV |
Uncertain Significance
|
1056474 |
|
GRCh37: 1:36935402-36935402 GRCh38: 1:36469801-36469801 |
37 |
CSF3R |
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) |
SNV |
Uncertain Significance
|
1337437 |
|
GRCh37: 1:36933492-36933492 GRCh38: 1:36467891-36467891 |
38 |
CSF3R |
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) |
SNV |
Uncertain Significance
|
566149 |
rs142999683 |
GRCh37: 1:36940984-36940984 GRCh38: 1:36475383-36475383 |
39 |
CSF3R |
NM_000760.4(CSF3R):c.353G>A (p.Arg118His) |
SNV |
Uncertain Significance
|
476297 |
rs923298829 |
GRCh37: 1:36940986-36940986 GRCh38: 1:36475385-36475385 |
40 |
CSF3R |
NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val) |
SNV |
Uncertain Significance
|
542858 |
rs375571657 |
GRCh37: 1:36933787-36933787 GRCh38: 1:36468186-36468186 |
41 |
CSF3R |
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) |
SNV |
Uncertain Significance
|
542859 |
rs752325760 |
GRCh37: 1:36937711-36937711 GRCh38: 1:36472110-36472110 |
42 |
CSF3R |
NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) |
SNV |
Uncertain Significance
|
842556 |
rs1382959301 |
GRCh37: 1:36932232-36932232 GRCh38: 1:36466631-36466631 |
43 |
CSF3R |
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) |
SNV |
Uncertain Significance
|
844038 |
rs183614500 |
GRCh37: 1:36932397-36932397 GRCh38: 1:36466796-36466796 |
44 |
CSF3R |
NM_000760.4(CSF3R):c.1407C>T (p.Ser469=) |
SNV |
Uncertain Significance
|
859944 |
rs1306508815 |
GRCh37: 1:36935320-36935320 GRCh38: 1:36469719-36469719 |
45 |
CSF3R |
NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu) |
SNV |
Uncertain Significance
|
567052 |
rs34362628 |
GRCh37: 1:36941238-36941238 GRCh38: 1:36475637-36475637 |
46 |
CSF3R |
NM_000760.4(CSF3R):c.686C>A (p.Pro229His) |
SNV |
Uncertain Significance
|
570209 |
rs764202764 |
GRCh37: 1:36938275-36938275 GRCh38: 1:36472674-36472674 |
47 |
CSF3R |
NC_000001.10:g.(?_36931677)_(36937267_?)dup |
DUP |
Uncertain Significance
|
583443 |
|
GRCh37: 1:36931677-36937267 GRCh38: 1:36466076-36471666 |
48 |
CSF3R |
NM_000760.4(CSF3R):c.1474+3G>A |
SNV |
Uncertain Significance
|
1057370 |
|
GRCh37: 1:36935250-36935250 GRCh38: 1:36469649-36469649 |
49 |
CSF3R |
NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) |
DEL |
Uncertain Significance
|
844629 |
rs1557587773 |
GRCh37: 1:36933501-36933502 GRCh38: 1:36467900-36467901 |
50 |
CSF3R |
NM_000760.4(CSF3R):c.648A>C (p.Gln216His) |
SNV |
Uncertain Significance
|
1487049 |
|
GRCh37: 1:36939061-36939061 GRCh38: 1:36473460-36473460 |