1 |
KRAS |
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) | ‎‎
SNV |
Pathogenic |
431103 |
rs1135401776 |
12:25378558-25378558 |
12:25225624-25225624 |
2 |
SHOC2 |
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) | ‎‎
SNV |
Pathogenic |
6821 |
rs267607048 |
10:112724120-112724120 |
10:110964362-110964362 |
3 |
KRAS |
NM_033360.4(KRAS):c.*12A>T | ‎‎
SNV |
Pathogenic |
12587 |
rs104894360 |
12:25362838-25362838 |
12:25209904-25209904 |
4 |
KRAS |
NM_033360.4(KRAS):c.173C>T (p.Thr58Ile) | ‎‎
SNV |
Pathogenic |
12588 |
rs104894364 |
12:25380285-25380285 |
12:25227351-25227351 |
5 |
KRAS |
NM_033360.4(KRAS):c.40G>A (p.Val14Ile) | ‎‎
SNV |
Pathogenic |
12589 |
rs104894365 |
12:25398279-25398279 |
12:25245345-25245345 |
6 |
PTPN11 |
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) | ‎‎
SNV |
Pathogenic |
13327 |
rs121918455 |
12:112915524-112915524 |
12:112477720-112477720 |
7 |
PTPN11 |
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) | ‎‎
SNV |
Pathogenic |
13333 |
rs121918459 |
12:112888172-112888172 |
12:112450368-112450368 |
8 |
PTPN11 |
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) | ‎‎
SNV |
Pathogenic |
13340 |
rs121918466 |
12:112888220-112888220 |
12:112450416-112450416 |
9 |
PTPN11 |
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) | ‎‎
SNV |
Pathogenic |
13342 |
rs121918468 |
12:112926248-112926248 |
12:112488444-112488444 |
10 |
PTPN11 |
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) | ‎‎
SNV |
Pathogenic |
13344 |
rs121918470 |
12:112926909-112926909 |
12:112489105-112489105 |
11 |
KRAS |
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) | ‎‎
SNV |
Pathogenic |
40452 |
rs727503110 |
12:25398254-25398254 |
12:25245320-25245320 |
12 |
KRAS |
NM_033360.4(KRAS):c.*9T>G | ‎‎
SNV |
Pathogenic |
12591 |
rs104894367 |
12:25362841-25362841 |
12:25209907-25209907 |
13 |
PTPN11 |
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) | ‎‎
SNV |
Pathogenic |
40488 |
rs397507506 |
12:112888158-112888158 |
12:112450354-112450354 |
14 |
PTPN11 |
NM_002834.4(PTPN11):c.181G>C (p.Asp61His) | ‎‎
SNV |
Pathogenic |
40494 |
rs397507510 |
12:112888165-112888165 |
12:112450361-112450361 |
15 |
PTPN11 |
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) | ‎‎
SNV |
Pathogenic |
40495 |
rs397507510 |
12:112888165-112888165 |
12:112450361-112450361 |
16 |
KRAS |
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) | ‎‎
SNV |
Pathogenic |
12597 |
rs104894359 |
12:25380280-25380280 |
12:25227346-25227346 |
17 |
PTPN11 |
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) | ‎‎
SNV |
Pathogenic |
40513 |
rs397507520 |
12:112891083-112891083 |
12:112453279-112453279 |
18 |
PTPN11 |
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) | ‎‎
SNV |
Pathogenic |
40566 |
rs397507549 |
12:112926908-112926908 |
12:112489104-112489104 |
19 |
SOS1 |
NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) | ‎‎
SNV |
Pathogenic |
40683 |
rs397517154 |
2:39249914-39249914 |
2:39022773-39022773 |
20 |
PTPN11 |
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) | ‎‎
SNV |
Pathogenic |
44615 |
rs397516810 |
12:112915456-112915456 |
12:112477652-112477652 |
21 |
SOS1 |
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
40701 |
rs574088829 |
2:39239460-39239460 |
2:39012319-39012319 |
22 |
PTPN11 |
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
40528 |
rs397507531 |
12:112910844-112910844 |
12:112473040-112473040 |
23 |
HRAS |
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
12601 |
rs28933406 |
11:533875-533875 |
11:533875-533875 |
24 |
PTPN11 |
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
13325 |
rs121918454 |
12:112888199-112888199 |
12:112450395-112450395 |
25 |
PTPN11 |
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
40499 |
rs397507512 |
12:112888195-112888195 |
12:112450391-112450391 |
26 |
PTPN11 |
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
40500 |
rs121918453 |
12:112888198-112888198 |
12:112450394-112450394 |
27 |
PTPN11 |
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
40507 |
rs397507518 |
12:112888312-112888312 |
12:112450508-112450508 |
28 |
KRAS |
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
12590 |
rs104894366 |
12:25398218-25398218 |
12:25245284-25245284 |
29 |
RAF1 |
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
496189 |
rs397516830 |
3:12645681-12645681 |
3:12604182-12604182 |
30 |
KRAS |
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) | ‎‎
SNV |
Likely pathogenic |
40460 |
rs730880471 |
12:25378643-25378643 |
12:25225709-25225709 |
31 |
KRAS |
NM_033360.4(KRAS):c.13A>G (p.Lys5Glu) | ‎‎
SNV |
Likely pathogenic |
12596 |
rs193929331 |
12:25398306-25398306 |
12:25245372-25245372 |
32 |
KRAS |
NM_033360.4(KRAS):c.458A>T (p.Glu153Val) | ‎‎
SNV |
Likely pathogenic |
637030 |
|
12:25368487-25368487 |
12:25215553-25215553 |
33 |
PTPN11 |
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) | ‎‎
SNV |
Likely pathogenic |
164997 |
rs727503380 |
12:112888190-112888190 |
12:112450386-112450386 |
34 |
HRAS |
NM_005343.4(HRAS):c.183G>T (p.Gln61His) | ‎‎
SNV |
Likely pathogenic |
376318 |
rs121913496 |
11:533873-533873 |
11:533873-533873 |
35 |
KRAS |
NM_033360.4(KRAS):c.112-5C>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
626130 |
rs376520586 |
12:25380351-25380351 |
12:25227417-25227417 |
36 |
KRAS |
NM_033360.4(KRAS):c.111+8T>G | ‎‎
SNV |
Uncertain significance |
883635 |
|
12:25398200-25398200 |
12:25245266-25245266 |
37 |
KRAS |
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) | ‎‎
SNV |
Uncertain significance |
438796 |
rs1555194026 |
12:25380264-25380264 |
12:25227330-25227330 |
38 |
KRAS |
NM_033360.4(KRAS):c.*44C>T | ‎‎
SNV |
Likely benign |
547512 |
rs1555192443 |
12:25362806-25362806 |
12:25209872-25209872 |
39 |
KRAS |
NM_033360.4(KRAS):c.*5-9G>A | ‎‎
SNV |
Benign/Likely benign |
40464 |
rs12313763 |
12:25362854-25362854 |
12:25209920-25209920 |
40 |
KRAS |
NM_033360.4(KRAS):c.483= (p.Arg161=) | ‎‎
SNV |
Benign |
46538 |
rs4362222 |
12:25368462-25368462 |
12:25215528-25215528 |