1 |
PTPN11 |
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) |
SNV |
Pathogenic
|
40485 |
rs397507504 |
GRCh37: 12:112888150-112888150 GRCh38: 12:112450346-112450346 |
2 |
BRAF |
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) |
SNV |
Pathogenic
|
55793 |
rs397509343 |
GRCh37: 7:140501331-140501331 GRCh38: 7:140801531-140801531 |
3 |
BRAF |
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) |
SNV |
Pathogenic
|
180784 |
rs397516903 |
GRCh37: 7:140501333-140501333 GRCh38: 7:140801533-140801533 |
4 |
BRAF |
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) |
SNV |
Pathogenic
|
40347 |
rs397507466 |
GRCh37: 7:140501337-140501337 GRCh38: 7:140801537-140801537 |
5 |
BRAF |
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) |
SNV |
Pathogenic
|
177775 |
rs121913357 |
GRCh37: 7:140481403-140481403 GRCh38: 7:140781603-140781603 |
6 |
NRAS |
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) |
SNV |
Pathogenic
|
177778 |
rs121913250 |
GRCh37: 1:115258748-115258748 GRCh38: 1:114716127-114716127 |
7 |
PTPN11 |
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) |
SNV |
Pathogenic
|
181496 |
rs121918464 |
GRCh37: 12:112888210-112888210 GRCh38: 12:112450406-112450406 |
8 |
RIT1 |
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) |
SNV |
Pathogenic
|
183407 |
rs869025194 |
GRCh37: 1:155874287-155874287 GRCh38: 1:155904496-155904496 |
9 |
RIT1 |
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) |
SNV |
Pathogenic
|
183411 |
rs869025197 |
GRCh37: 1:155874266-155874266 GRCh38: 1:155904475-155904475 |
10 |
NRAS |
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) |
SNV |
Pathogenic
|
219097 |
rs121913237 |
GRCh37: 1:115258747-115258747 GRCh38: 1:114716126-114716126 |
11 |
SPRED1 |
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) |
DEL |
Pathogenic
|
220172 |
rs864622410 |
GRCh37: 15:38643326-38643327 GRCh38: 15:38351125-38351126 |
12 |
PTPN11 |
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) |
SNV |
Pathogenic
|
55797 |
rs397507509 |
GRCh37: 12:112888163-112888163 GRCh38: 12:112450359-112450359 |
13 |
SOS1 |
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) |
SNV |
Pathogenic
|
45379 |
rs397517180 |
GRCh37: 2:39262581-39262581 GRCh38: 2:39035440-39035440 |
14 |
SOS1 |
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) |
SNV |
Pathogenic
|
40669 |
rs397517147 |
GRCh37: 2:39250272-39250272 GRCh38: 2:39023131-39023131 |
15 |
SOS1 |
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) |
SNV |
Pathogenic
|
40649 |
rs397517164 |
GRCh37: 2:39285837-39285837 GRCh38: 2:39058696-39058696 |
16 |
RAF1 |
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly) |
SNV |
Pathogenic
|
40616 |
rs730881002 |
GRCh37: 3:12632388-12632388 GRCh38: 3:12590889-12590889 |
17 |
RAF1 |
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) |
SNV |
Pathogenic
|
40603 |
rs397516827 |
GRCh37: 3:12645693-12645693 GRCh38: 3:12604194-12604194 |
18 |
PTPN11 |
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) |
SNV |
Pathogenic
|
40507 |
rs397507518 |
GRCh37: 12:112888312-112888312 GRCh38: 12:112450508-112450508 |
19 |
PTPN11 |
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) |
SNV |
Pathogenic
|
40502 |
rs397507514 |
GRCh37: 12:112888212-112888212 GRCh38: 12:112450408-112450408 |
20 |
PTPN11 |
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) |
SNV |
Pathogenic
|
40488 |
rs397507506 |
GRCh37: 12:112888158-112888158 GRCh38: 12:112450354-112450354 |
21 |
PTPN11 |
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) |
SNV |
Pathogenic
|
40554 |
rs397507542 |
GRCh37: 12:112926873-112926873 GRCh38: 12:112489069-112489069 |
22 |
BRAF |
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) |
SNV |
Pathogenic
|
40383 |
rs397507480 |
GRCh37: 7:140454033-140454033 GRCh38: 7:140754233-140754233 |
23 |
HRAS, LRRC56 |
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) |
SNV |
Pathogenic
|
35554 |
rs104894228 |
GRCh37: 11:534286-534286 GRCh38: 11:534286-534286 |
24 |
BRAF |
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) |
SNV |
Pathogenic
|
13976 |
rs180177037 |
GRCh37: 7:140477813-140477813 GRCh38: 7:140778013-140778013 |
25 |
BRAF |
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) |
SNV |
Pathogenic
|
13969 |
rs121913369 |
GRCh37: 7:140453146-140453146 GRCh38: 7:140753346-140753346 |
26 |
CBL |
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) |
SNV |
Pathogenic
|
13807 |
rs267606704 |
GRCh37: 11:119148880-119148880 GRCh38: 11:119278170-119278170 |
27 |
PTPN11 |
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) |
SNV |
Pathogenic
|
13337 |
rs121918465 |
GRCh37: 12:112888211-112888211 GRCh38: 12:112450407-112450407 |
28 |
BRAF |
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) |
SNV |
Pathogenic
|
40348 |
rs397507466 |
GRCh37: 7:140501337-140501337 GRCh38: 7:140801537-140801537 |
29 |
BRAF |
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) |
SNV |
Pathogenic
|
40366 |
rs397507473 |
GRCh37: 7:140481405-140481405 GRCh38: 7:140781605-140781605 |
30 |
HRAS, LRRC56 |
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) |
SNV |
Pathogenic
|
12604 |
rs104894226 |
GRCh37: 11:534285-534285 GRCh38: 11:534285-534285 |
31 |
LZTR1 |
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) |
SNV |
Pathogenic
|
373089 |
rs747430075 |
GRCh37: 22:21347167-21347167 GRCh38: 22:20992878-20992878 |
32 |
SPRED1 |
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) |
DUP |
Pathogenic
|
536688 |
rs1555391053 |
GRCh37: 15:38614537-38614538 GRCh38: 15:38322336-38322337 |
33 |
SPRED1 |
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) |
SNV |
Pathogenic
|
536693 |
rs750777752 |
GRCh37: 15:38591593-38591593 GRCh38: 15:38299392-38299392 |
34 |
RIT1 |
NM_006912.6(RIT1):c.268A>G (p.Met90Val) |
SNV |
Pathogenic
|
561681 |
|
GRCh37: 1:155874263-155874263 GRCh38: 1:155904472-155904472 |
35 |
SPRED1 |
NM_152594.3(SPRED1):c.1044_1045del (p.Arg349fs) |
DEL |
Pathogenic
|
1334196 |
|
GRCh37: 15:38643574-38643575 GRCh38: 15:38351373-38351374 |
36 |
SPRED1 |
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) |
SNV |
Pathogenic
|
1334310 |
rs727504170 |
GRCh37: 15:38614463-38614463 GRCh38: 15:38322262-38322262 |
37 |
KRAS |
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) |
SNV |
Pathogenic
|
12589 |
rs104894365 |
GRCh37: 12:25398279-25398279 GRCh38: 12:25245345-25245345 |
38 |
HRAS, LRRC56 |
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) |
SNV |
Pathogenic
|
12602 |
rs104894229 |
GRCh37: 11:534289-534289 GRCh38: 11:534289-534289 |
39 |
PTPN11 |
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) |
SNV |
Pathogenic
|
13324 |
rs121918453 |
GRCh37: 12:112888198-112888198 GRCh38: 12:112450394-112450394 |
40 |
PTPN11 |
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) |
SNV |
Pathogenic
|
13325 |
rs121918454 |
GRCh37: 12:112888199-112888199 GRCh38: 12:112450395-112450395 |
41 |
PTPN11 |
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) |
SNV |
Pathogenic
|
13326 |
rs28933386 |
GRCh37: 12:112915523-112915523 GRCh38: 12:112477719-112477719 |
42 |
PTPN11 |
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) |
SNV |
Pathogenic
|
13327 |
rs121918455 |
GRCh37: 12:112915524-112915524 GRCh38: 12:112477720-112477720 |
43 |
PTPN11 |
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) |
SNV |
Pathogenic
|
13328 |
rs121918456 |
GRCh37: 12:112910827-112910827 GRCh38: 12:112473023-112473023 |
44 |
PTPN11 |
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) |
SNV |
Pathogenic
|
13329 |
rs121918460 |
GRCh37: 12:112888168-112888168 GRCh38: 12:112450364-112450364 |
45 |
PTPN11 |
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) |
SNV |
Pathogenic
|
13330 |
rs121918461 |
GRCh37: 12:112888166-112888166 GRCh38: 12:112450362-112450362 |
46 |
PTPN11 |
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) |
SNV |
Pathogenic
|
13331 |
rs121918457 |
GRCh37: 12:112926270-112926270 GRCh38: 12:112488466-112488466 |
47 |
PTPN11 |
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) |
SNV |
Pathogenic
|
13333 |
rs121918459 |
GRCh37: 12:112888172-112888172 GRCh38: 12:112450368-112450368 |
48 |
PTPN11 |
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) |
SNV |
Pathogenic
|
13334 |
rs121918462 |
GRCh37: 12:112888202-112888202 GRCh38: 12:112450398-112450398 |
49 |
PTPN11 |
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) |
SNV |
Pathogenic
|
13335 |
rs121918463 |
GRCh37: 12:112915455-112915455 GRCh38: 12:112477651-112477651 |
50 |
PTPN11 |
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) |
SNV |
Pathogenic
|
13340 |
rs121918466 |
GRCh37: 12:112888220-112888220 GRCh38: 12:112450416-112450416 |