1 |
KRAS |
NM_033360.4(KRAS):c.*9T>G |
SNV |
Pathogenic
|
12591 |
rs104894367 |
GRCh37: 12:25362841-25362841 GRCh38: 12:25209907-25209907 |
2 |
KRAS |
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) |
SNV |
Pathogenic
|
431103 |
rs1135401776 |
GRCh37: 12:25378558-25378558 GRCh38: 12:25225624-25225624 |
3 |
CLTC |
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) |
INDEL |
Pathogenic
|
984634 |
rs2032738350 |
GRCh37: 17:57743970-57743974 GRCh38: 17:59666609-59666613 |
4 |
KRAS |
NM_004985.5(KRAS):c.53C>T (p.Ala18Val) |
SNV |
Pathogenic
|
1695421 |
|
GRCh37: 12:25398266-25398266 GRCh38: 12:25245332-25245332 |
5 |
KRAS |
NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr) |
INSERT |
Pathogenic
|
1695422 |
|
GRCh37: 12:25380263-25380264 GRCh38: 12:25227329-25227330 |
6 |
KRAS |
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) |
SNV |
Pathogenic
|
12588 |
rs104894364 |
GRCh37: 12:25380285-25380285 GRCh38: 12:25227351-25227351 |
7 |
KRAS |
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) |
SNV |
Pathogenic
|
12597 |
rs104894359 |
GRCh37: 12:25380280-25380280 GRCh38: 12:25227346-25227346 |
8 |
KRAS |
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) |
SNV |
Pathogenic
|
12590 |
rs104894366 |
GRCh37: 12:25398218-25398218 GRCh38: 12:25245284-25245284 |
9 |
KRAS |
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) |
SNV |
Pathogenic
|
163758 |
rs397517042 |
GRCh37: 12:25362830-25362830 GRCh38: 12:25209896-25209896 |
10 |
PTPN11 |
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) |
SNV |
Pathogenic
|
44615 |
rs397516810 |
GRCh37: 12:112915456-112915456 GRCh38: 12:112477652-112477652 |
11 |
PTPN11 |
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) |
SNV |
Pathogenic
|
40488 |
rs397507506 |
GRCh37: 12:112888158-112888158 GRCh38: 12:112450354-112450354 |
12 |
KRAS |
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) |
SNV |
Pathogenic
Pathogenic
|
12587 |
rs104894360 |
GRCh37: 12:25362838-25362838 GRCh38: 12:25209904-25209904 |
13 |
KRAS |
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) |
SNV |
Pathogenic
|
12589 |
rs104894365 |
GRCh37: 12:25398279-25398279 GRCh38: 12:25245345-25245345 |
14 |
KRAS |
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) |
SNV |
Pathogenic
|
12596 |
rs193929331 |
GRCh37: 12:25398306-25398306 GRCh38: 12:25245372-25245372 |
15 |
KRAS |
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) |
SNV |
Pathogenic
Pathogenic
|
40452 |
rs727503110 |
GRCh37: 12:25398254-25398254 GRCh38: 12:25245320-25245320 |
16 |
PTPN11 |
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) |
SNV |
Pathogenic
|
40513 |
rs397507520 |
GRCh37: 12:112891083-112891083 GRCh38: 12:112453279-112453279 |
17 |
PTPN11 |
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) |
SNV |
Pathogenic
|
40528 |
rs397507531 |
GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040 |
18 |
PTPN11 |
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) |
SNV |
Pathogenic
|
13344 |
rs121918470 |
GRCh37: 12:112926909-112926909 GRCh38: 12:112489105-112489105 |
19 |
PTPN11 |
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) |
SNV |
Pathogenic
|
40495 |
rs397507510 |
GRCh37: 12:112888165-112888165 GRCh38: 12:112450361-112450361 |
20 |
PTPN11 |
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) |
SNV |
Pathogenic
|
13325 |
rs121918454 |
GRCh37: 12:112888199-112888199 GRCh38: 12:112450395-112450395 |
21 |
SOS1 |
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) |
SNV |
Pathogenic
|
40683 |
rs397517154 |
GRCh37: 2:39249914-39249914 GRCh38: 2:39022773-39022773 |
22 |
PTPN11 |
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) |
SNV |
Pathogenic
|
13327 |
rs121918455 |
GRCh37: 12:112915524-112915524 GRCh38: 12:112477720-112477720 |
23 |
PTPN11 |
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) |
SNV |
Pathogenic
|
13333 |
rs121918459 |
GRCh37: 12:112888172-112888172 GRCh38: 12:112450368-112450368 |
24 |
PTPN11 |
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) |
SNV |
Pathogenic
|
40566 |
rs397507549 |
GRCh37: 12:112926908-112926908 GRCh38: 12:112489104-112489104 |
25 |
PTPN11 |
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) |
SNV |
Pathogenic
|
40494 |
rs397507510 |
GRCh37: 12:112888165-112888165 GRCh38: 12:112450361-112450361 |
26 |
PTPN11 |
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) |
SNV |
Pathogenic
|
13340 |
rs121918466 |
GRCh37: 12:112888220-112888220 GRCh38: 12:112450416-112450416 |
27 |
PTPN11 |
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) |
SNV |
Likely Pathogenic
|
40499 |
rs397507512 |
GRCh37: 12:112888195-112888195 GRCh38: 12:112450391-112450391 |
28 |
PTPN11 |
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) |
SNV |
Likely Pathogenic
|
40507 |
rs397507518 |
GRCh37: 12:112888312-112888312 GRCh38: 12:112450508-112450508 |
29 |
HRAS, LRRC56 |
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) |
SNV |
Likely Pathogenic
|
12601 |
rs28933406 |
GRCh37: 11:533875-533875 GRCh38: 11:533875-533875 |
30 |
HRAS, LRRC56 |
NM_005343.4(HRAS):c.183G>T (p.Gln61His) |
SNV |
Likely Pathogenic
|
376318 |
rs121913496 |
GRCh37: 11:533873-533873 GRCh38: 11:533873-533873 |
31 |
KRAS |
NM_004985.5(KRAS):c.451-5642A>T |
SNV |
Likely Pathogenic
|
637030 |
rs1592798693 |
GRCh37: 12:25368487-25368487 GRCh38: 12:25215553-25215553 |
32 |
KRAS |
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys) |
SNV |
Likely Pathogenic
|
1676497 |
|
GRCh37: GRCh38: |
33 |
KRAS |
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) |
SNV |
Likely Pathogenic
|
438796 |
rs1555194026 |
GRCh37: 12:25380264-25380264 GRCh38: 12:25227330-25227330 |
34 |
SOS1 |
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) |
SNV |
Likely Pathogenic
|
40701 |
rs574088829 |
GRCh37: 2:39239460-39239460 GRCh38: 2:39012319-39012319 |
35 |
PTPN11 |
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) |
SNV |
Likely Pathogenic
|
40500 |
rs121918453 |
GRCh37: 12:112888198-112888198 GRCh38: 12:112450394-112450394 |
36 |
KRAS |
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) |
SNV |
Likely Pathogenic
Not Provided
|
40460 |
rs730880471 |
GRCh37: 12:25378643-25378643 GRCh38: 12:25225709-25225709 |
37 |
KRAS |
NM_004985.5(KRAS):c.202_204del (p.Arg68del) |
DEL |
Likely Pathogenic
|
984644 |
rs1951405809 |
GRCh37: 12:25380254-25380256 GRCh38: 12:25227320-25227322 |
38 |
RAF1 |
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) |
SNV |
Likely Pathogenic
|
496189 |
rs397516830 |
GRCh37: 3:12645681-12645681 GRCh38: 3:12604182-12604182 |
39 |
PTPN11 |
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) |
SNV |
Likely Pathogenic
|
164997 |
rs727503380 |
GRCh37: 12:112888190-112888190 GRCh38: 12:112450386-112450386 |
40 |
SHOC2 |
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) |
SNV |
Uncertain Significance
|
1030212 |
rs1848438761 |
GRCh37: 10:112764550-112764550 GRCh38: 10:111004792-111004792 |
41 |
KRAS |
NM_004985.5(KRAS):c.76A>C (p.Asn26His) |
SNV |
Uncertain Significance
|
1333392 |
|
GRCh37: 12:25398243-25398243 GRCh38: 12:25245309-25245309 |
42 |
KRAS |
NM_033360.4(KRAS):c.112-5C>T |
SNV |
Uncertain Significance
|
626130 |
rs376520586 |
GRCh37: 12:25380351-25380351 GRCh38: 12:25227417-25227417 |
43 |
KRAS |
NM_004985.5(KRAS):c.111+8T>G |
SNV |
Uncertain Significance
|
883635 |
rs779370636 |
GRCh37: 12:25398200-25398200 GRCh38: 12:25245266-25245266 |
44 |
SHOC2 |
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) |
SNV |
Uncertain Significance
|
1030213 |
rs1026930115 |
GRCh37: 10:112769525-112769525 GRCh38: 10:111009767-111009767 |
45 |
KRAS |
NM_033360.4(KRAS):c.*44C>T |
SNV |
Likely Benign
|
547512 |
rs1555192443 |
GRCh37: 12:25362806-25362806 GRCh38: 12:25209872-25209872 |
46 |
KRAS |
NM_004985.5(KRAS):c.451-9G>A |
SNV |
Benign
|
40464 |
rs12313763 |
GRCh37: 12:25362854-25362854 GRCh38: 12:25209920-25209920 |