1 |
TCOF1 |
NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs) |
DUP |
Pathogenic
|
419066 |
rs1554080460 |
GRCh37: 5:149776031-149776032 GRCh38: 5:150396468-150396469 |
2 |
FGFR2 |
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) |
SNV |
Pathogenic
|
13276 |
rs121918497 |
GRCh37: 10:123279566-123279566 GRCh38: 10:121520052-121520052 |
3 |
FGFR2 |
NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu) |
SNV |
Pathogenic
|
13282 |
rs121918500 |
GRCh37: 10:123279558-123279558 GRCh38: 10:121520044-121520044 |
4 |
FGFR2 |
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) |
SNV |
Pathogenic
|
13283 |
rs121918501 |
GRCh37: 10:123279564-123279564 GRCh38: 10:121520050-121520050 |
5 |
FGFR2 |
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly) |
SNV |
Pathogenic
|
13284 |
rs121918501 |
GRCh37: 10:123279564-123279564 GRCh38: 10:121520050-121520050 |
6 |
FGFR2 |
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) |
SNV |
Pathogenic
|
13295 |
rs121918507 |
GRCh37: 10:123258105-123258105 GRCh38: 10:121498591-121498591 |
7 |
FGFR2 |
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) |
SNV |
Pathogenic
|
13290 |
rs121918505 |
GRCh37: 10:123279633-123279633 GRCh38: 10:121520119-121520119 |
8 |
FGFR2 |
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) |
SNV |
Pathogenic
|
374809 |
rs1057519036 |
GRCh37: 10:123279606-123279606 GRCh38: 10:121520092-121520092 |
9 |
FGFR2 |
NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys) |
SNV |
Pathogenic
|
374813 |
rs1057519040 |
GRCh37: 10:123279509-123279509 GRCh38: 10:121519995-121519995 |
10 |
FGFR2 |
NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser) |
SNV |
Pathogenic
|
374812 |
rs1057519039 |
GRCh37: 10:123279563-123279563 GRCh38: 10:121520049-121520049 |
11 |
FGFR2 |
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) |
SNV |
Pathogenic
|
478046 |
rs1554927408 |
GRCh37: 10:123274768-123274768 GRCh38: 10:121515254-121515254 |
12 |
FGFR2 |
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) |
SNV |
Pathogenic
|
13277 |
rs121913478 |
GRCh37: 10:123274794-123274794 GRCh38: 10:121515280-121515280 |
13 |
FGFR2 |
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) |
SNV |
Pathogenic
|
13272 |
rs79184941 |
GRCh37: 10:123279677-123279677 GRCh38: 10:121520163-121520163 |
14 |
FGFR2 |
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) |
SNV |
Pathogenic
|
449024 |
rs1434545235 |
GRCh37: 10:123325014-123325014 GRCh38: 10:121565500-121565500 |
15 |
FGFR2 |
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) |
SNV |
Pathogenic
|
265431 |
rs776587763 |
GRCh37: 10:123279599-123279599 GRCh38: 10:121520085-121520085 |
16 |
FGFR2 |
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) |
SNV |
Pathogenic
|
573667 |
rs1564919048 |
GRCh37: 10:123279620-123279620 GRCh38: 10:121520106-121520106 |
17 |
FGFR2 |
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) |
SNV |
Pathogenic
Pathogenic
|
13263 |
rs121918487 |
GRCh37: 10:123276892-123276892 GRCh38: 10:121517378-121517378 |
18 |
FGFR2 |
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) |
SNV |
Pathogenic
|
13264 |
rs121918489 |
GRCh37: 10:123276899-123276899 GRCh38: 10:121517385-121517385 |
19 |
FGFR2 |
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) |
SNV |
Pathogenic
|
13265 |
rs121918490 |
GRCh37: 10:123276856-123276856 GRCh38: 10:121517342-121517342 |
20 |
FGFR2 |
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) |
SNV |
Pathogenic
|
13266 |
rs121918488 |
GRCh37: 10:123276893-123276893 GRCh38: 10:121517379-121517379 |
21 |
FGFR2 |
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) |
SNV |
Pathogenic
|
13267 |
rs121918488 |
GRCh37: 10:123276893-123276893 GRCh38: 10:121517379-121517379 |
22 |
FGFR2 |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344_Gly345=) |
SNV |
Pathogenic
Pathogenic
|
13268 |
rs121918491 |
GRCh37: 10:123276885-123276885 GRCh38: 10:121517371-121517371 |
23 |
FGFR2 |
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) |
SNV |
Pathogenic
|
13269 |
rs121918492 |
GRCh37: 10:123276886-123276886 GRCh38: 10:121517372-121517372 |
24 |
FGFR2 |
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) |
SNV |
Pathogenic
|
13270 |
rs121918493 |
GRCh37: 10:123276934-123276934 GRCh38: 10:121517420-121517420 |
25 |
FGFR2 |
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) |
SNV |
Pathogenic
|
13271 |
rs121918494 |
GRCh37: 10:123276877-123276877 GRCh38: 10:121517363-121517363 |
26 |
FGFR2 |
NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp) |
SNV |
Pathogenic
|
13275 |
rs121918496 |
GRCh37: 10:123276891-123276891 GRCh38: 10:121517377-121517377 |
27 |
FGFR2 |
NM_000141.5(FGFR2):c.1084+3A>G |
SNV |
Pathogenic
Likely Pathogenic
|
13299 |
rs879253721 |
GRCh37: 10:123276830-123276830 GRCh38: 10:121517316-121517316 |
28 |
FGFR2 |
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro) |
SNV |
Pathogenic
|
29853 |
rs387906676 |
GRCh37: 10:123276908-123276908 GRCh38: 10:121517394-121517394 |
29 |
FGFR2 |
NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg) |
SNV |
Pathogenic
|
374816 |
rs1057519043 |
GRCh37: 10:123276905-123276905 GRCh38: 10:121517391-121517391 |
30 |
FGFR2 |
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) |
SNV |
Pathogenic
Likely Pathogenic
|
374817 |
rs1057519044 |
GRCh37: 10:123276904-123276904 GRCh38: 10:121517390-121517390 |
31 |
FGFR3 |
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) |
SNV |
Pathogenic
|
16340 |
rs4647924 |
GRCh37: 4:1803571-1803571 GRCh38: 4:1801844-1801844 |
32 |
FGFR2 |
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) |
SNV |
Pathogenic
|
374820 |
rs121918487 |
GRCh37: 10:123276892-123276892 GRCh38: 10:121517378-121517378 |
33 |
FGFR2 |
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) |
SNV |
Pathogenic
|
13289 |
rs121918504 |
GRCh37: 10:123276974-123276974 GRCh38: 10:121517460-121517460 |
34 |
FGFR2 |
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) |
SNV |
Pathogenic
|
13273 |
rs77543610 |
GRCh37: 10:123279674-123279674 GRCh38: 10:121520160-121520160 |
35 |
FGFR2 |
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) |
SNV |
Pathogenic/Likely Pathogenic
|
374815 |
rs1057519042 |
GRCh37: 10:123276910-123276910 GRCh38: 10:121517396-121517396 |
36 |
FGFR2 |
NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe) |
DUP |
Likely Pathogenic
|
981191 |
rs1850299732 |
GRCh37: 10:123279602-123279603 GRCh38: 10:121520088-121520089 |
37 |
FGFR2 |
NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro) |
INVERS |
Likely Pathogenic
|
1048584 |
|
GRCh37: 10:123279620-123279621 GRCh38: 10:121520106-121520107 |
38 |
FGFR2 |
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) |
SNV |
Likely Pathogenic
|
374821 |
rs1057519045 |
GRCh37: 10:123258036-123258036 GRCh38: 10:121498522-121498522 |
39 |
FGFR2 |
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys) |
SNV |
Likely Pathogenic
|
374811 |
rs1057519038 |
GRCh37: 10:123279590-123279590 GRCh38: 10:121520076-121520076 |
40 |
FGFR2 |
NM_000141.5(FGFR2):c.1179A>T (p.Val393_Thr394=) |
SNV |
Uncertain Significance
|
299004 |
rs886046763 |
GRCh37: 10:123274739-123274739 GRCh38: 10:121515225-121515225 |
41 |
FGFR2 |
NM_000141.5(FGFR2):c.*1489C>T |
SNV |
Uncertain Significance
|
298975 |
rs886046757 |
GRCh37: 10:123237882-123237882 GRCh38: 10:121478368-121478368 |
42 |
FGFR2 |
NM_000141.5(FGFR2):c.1167C>G (p.Ala389_Cys390=) |
SNV |
Uncertain Significance
|
877639 |
rs757648006 |
GRCh37: 10:123274751-123274751 GRCh38: 10:121515237-121515237 |
43 |
FGFR2 |
NM_000141.5(FGFR2):c.1093A>C (p.Arg365_Glu366=) |
SNV |
Uncertain Significance
|
878653 |
rs1849564914 |
GRCh37: 10:123274825-123274825 GRCh38: 10:121515311-121515311 |
44 |
FGFR2 |
NM_000141.5(FGFR2):c.780C>T (p.Ala260_Gly261=) |
SNV |
Uncertain Significance
|
772255 |
rs778288494 |
GRCh37: 10:123279652-123279652 GRCh38: 10:121520138-121520138 |
45 |
FGFR2 |
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) |
SNV |
Uncertain Significance
|
878704 |
rs747171741 |
GRCh37: 10:123279660-123279660 GRCh38: 10:121520146-121520146 |
46 |
FGFR2 |
NM_000141.5(FGFR2):c.714G>A (p.Gly238_Ser239=) |
SNV |
Uncertain Significance
|
728535 |
rs1276387170 |
GRCh37: 10:123298140-123298140 GRCh38: 10:121538626-121538626 |
47 |
FGFR2 |
NM_000141.5(FGFR2):c.*1283C>G |
SNV |
Uncertain Significance
|
878944 |
rs1844298421 |
GRCh37: 10:123238088-123238088 GRCh38: 10:121478574-121478574 |
48 |
FGFR2 |
NM_000141.5(FGFR2):c.*730G>C |
SNV |
Uncertain Significance
|
878994 |
rs549293047 |
GRCh37: 10:123238641-123238641 GRCh38: 10:121479127-121479127 |
49 |
FGFR2 |
NM_000141.5(FGFR2):c.*463A>G |
SNV |
Uncertain Significance
|
877435 |
rs373313930 |
GRCh37: 10:123238908-123238908 GRCh38: 10:121479394-121479394 |
50 |
FGFR2 |
NM_000141.5(FGFR2):c.-17G>C |
SNV |
Uncertain Significance
|
877977 |
rs766629665 |
GRCh37: 10:123353348-123353348 GRCh38: 10:121593834-121593834 |