1 |
CBL |
NM_005188.4(CBL):c.1076_1087del (p.Asp359_Lys362del) |
DEL |
Pathogenic
|
40404 |
rs397507490 |
GRCh37: 11:119148532-119148543 GRCh38: 11:119277822-119277833 |
2 |
CBL |
NM_005188.4(CBL):c.1227+2_1227+4delinsAAG |
INDEL |
Pathogenic
|
40407 |
rs397507493 |
GRCh37: 11:119149009-119149011 GRCh38: 11:119278299-119278301 |
3 |
PTPN11 |
NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) |
INDEL |
Pathogenic
|
40492 |
rs397507508 |
GRCh37: 12:112888163-112888166 GRCh38: 12:112450359-112450362 |
4 |
PTPN11 |
NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) |
INDEL |
Pathogenic
|
55799 |
rs397509345 |
GRCh37: 12:112926897-112926898 GRCh38: 12:112489093-112489094 |
5 |
PTPN11 |
NM_002834.5(PTPN11):c.1508G>C (p.Gly503Ala) |
SNV |
Pathogenic
|
162464 |
rs397507546 |
GRCh37: 12:112926888-112926888 GRCh38: 12:112489084-112489084 |
6 |
CBL |
NM_005188.4(CBL):c.1096-4_1096-1del |
DEL |
Pathogenic
|
45197 |
rs397517077 |
GRCh37: 11:119148872-119148875 GRCh38: 11:119278162-119278165 |
7 |
CBL |
NM_005188.2:c.1227+2_1227+3delTACinsAAG |
INSERT |
Pathogenic
|
180826 |
|
GRCh37: GRCh38: |
8 |
MAP2K1 |
NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val) |
INDEL |
Pathogenic
|
40745 |
rs730880508 |
GRCh37: 15:66729175-66729176 GRCh38: 15:66436837-66436838 |
9 |
NRAS |
NM_002524.5(NRAS):c.112-1_113dup |
DUP |
Pathogenic
|
40472 |
rs730880967 |
GRCh37: 1:115256597-115256598 GRCh38: 1:114713976-114713977 |
10 |
PTPN11 |
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) |
SNV |
Pathogenic
|
44603 |
rs397516801 |
GRCh37: 12:112888193-112888193 GRCh38: 12:112450389-112450389 |
11 |
SOS1 |
NM_005633.4(SOS1):c.1300_1301delinsAA (p.Gly434Lys) |
INDEL |
Pathogenic
|
40671 |
rs730881048 |
GRCh37: 2:39250268-39250269 GRCh38: 2:39023127-39023128 |
12 |
PTPN11 |
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg) |
SNV |
Pathogenic
|
40521 |
rs397507526 |
GRCh37: 12:112910776-112910776 GRCh38: 12:112472972-112472972 |
13 |
PTPN11 |
NM_002834.5(PTPN11):c.1506_1507delinsCC (p.Gly503Arg) |
INDEL |
Pathogenic
|
571101 |
rs1566186833 |
GRCh37: 12:112926886-112926887 GRCh38: 12:112489082-112489083 |
14 |
PTPN11 |
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) |
SNV |
Pathogenic
|
179221 |
rs121918461 |
GRCh37: 12:112888166-112888166 GRCh38: 12:112450362-112450362 |
15 |
PTPN11 |
NM_002834.5(PTPN11):c.634_638del (p.Leu212fs) |
DEL |
Pathogenic
|
942066 |
rs2038127324 |
GRCh37: 12:112892473-112892477 GRCh38: 12:112454669-112454673 |
16 |
PTPN11 |
NM_002834.5(PTPN11):c.409del (p.Val137fs) |
DEL |
Pathogenic
|
961562 |
rs2038103354 |
GRCh37: 12:112891075-112891075 GRCh38: 12:112453271-112453271 |
17 |
PTPN11 |
NM_002834.5(PTPN11):c.1147dup (p.Met383fs) |
DUP |
Pathogenic
|
963962 |
rs2038606313 |
GRCh37: 12:112919931-112919932 GRCh38: 12:112482127-112482128 |
18 |
RAF1 |
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) |
SNV |
Pathogenic
|
504514 |
rs3730271 |
GRCh37: 3:12645694-12645694 GRCh38: 3:12604195-12604195 |
19 |
RAF1 |
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) |
SNV |
Pathogenic
|
44633 |
rs397516827 |
GRCh37: 3:12645693-12645693 GRCh38: 3:12604194-12604194 |
20 |
SOS1 |
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) |
SNV |
Pathogenic
|
40679 |
rs730881045 |
GRCh37: 2:39249925-39249925 GRCh38: 2:39022784-39022784 |
21 |
PTPN11 |
NC_000012.11:g.(?_112915449)_(112915825_?)del |
DEL |
Pathogenic
|
1070485 |
|
GRCh37: 12:112915449-112915825 GRCh38: |
22 |
PTPN11 |
NM_002834.5(PTPN11):c.1075G>T (p.Glu359Ter) |
SNV |
Pathogenic
|
1072028 |
|
GRCh37: 12:112915802-112915802 GRCh38: 12:112477998-112477998 |
23 |
PTPN11 |
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) |
SNV |
Pathogenic
|
1367799 |
|
GRCh37: 12:112893802-112893802 GRCh38: 12:112455998-112455998 |
24 |
PTPN11 |
NM_002834.5(PTPN11):c.18del (p.Trp6fs) |
DEL |
Pathogenic
|
1435208 |
|
GRCh37: 12:112884082-112884082 GRCh38: 12:112446278-112446278 |
25 |
PTPN11 |
NM_002834.5(PTPN11):c.220_221dup (p.Leu74fs) |
DUP |
Pathogenic
|
1374451 |
|
GRCh37: 12:112888202-112888203 GRCh38: 12:112450398-112450399 |
26 |
PTPN11 |
NC_000012.11:g.(?_112910728)_(112910864_?)del |
DEL |
Pathogenic
|
1370287 |
|
GRCh37: 12:112910728-112910864 GRCh38: |
27 |
CBL |
NM_005188.4(CBL):c.1096-1G>C |
SNV |
Pathogenic
|
45196 |
rs397517076 |
GRCh37: 11:119148875-119148875 GRCh38: 11:119278165-119278165 |
28 |
PTPN11 |
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) |
SNV |
Pathogenic
|
288033 |
rs886043790 |
GRCh37: 12:112888159-112888159 GRCh38: 12:112450355-112450355 |
29 |
RAF1 |
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) |
SNV |
Pathogenic
|
40605 |
rs121434594 |
GRCh37: 3:12645688-12645688 GRCh38: 3:12604189-12604189 |
30 |
MAP2K1 |
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) |
SNV |
Pathogenic
|
280446 |
rs727504819 |
GRCh37: 15:66729115-66729115 GRCh38: 15:66436777-66436777 |
31 |
PTPN11 |
NM_002834.5(PTPN11):c.569T>A (p.Leu190Ter) |
SNV |
Pathogenic
|
966477 |
rs2038125958 |
GRCh37: 12:112892411-112892411 GRCh38: 12:112454607-112454607 |
32 |
CBL |
NM_005188.4(CBL):c.1096-1G>T |
SNV |
Pathogenic
|
180815 |
rs397517076 |
GRCh37: 11:119148875-119148875 GRCh38: 11:119278165-119278165 |
33 |
PTPN11 |
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) |
SNV |
Pathogenic
|
164998 |
rs727503381 |
GRCh37: 12:112892440-112892440 GRCh38: 12:112454636-112454636 |
34 |
SOS1 |
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) |
SNV |
Pathogenic
|
40648 |
rs730881054 |
GRCh37: 2:39285906-39285906 GRCh38: 2:39058765-39058765 |
35 |
PTPN11 |
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu) |
SNV |
Pathogenic
|
477670 |
rs1555267558 |
GRCh37: 12:112888197-112888197 GRCh38: 12:112450393-112450393 |
36 |
SOS1 |
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) |
SNV |
Pathogenic
|
12873 |
rs267607080 |
GRCh37: 2:39250275-39250275 GRCh38: 2:39023134-39023134 |
37 |
RAF1 |
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) |
SNV |
Pathogenic
|
40599 |
rs397516826 |
GRCh37: 3:12645701-12645701 GRCh38: 3:12604202-12604202 |
38 |
MAP2K2 |
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) |
SNV |
Pathogenic
|
30170 |
rs387906800 |
GRCh37: 19:4110562-4110562 GRCh38: 19:4110564-4110564 |
39 |
MAP2K1 |
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) |
SNV |
Pathogenic
|
40741 |
rs730880503 |
GRCh37: 15:66729147-66729147 GRCh38: 15:66436809-66436809 |
40 |
PTPN11 |
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) |
SNV |
Pathogenic
|
40512 |
rs397507520 |
GRCh37: 12:112891083-112891083 GRCh38: 12:112453279-112453279 |
41 |
PTPN11 |
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) |
SNV |
Pathogenic
|
40533 |
rs121918463 |
GRCh37: 12:112915455-112915455 GRCh38: 12:112477651-112477651 |
42 |
MAP2K1 |
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) |
SNV |
Pathogenic
|
228273 |
rs876657651 |
GRCh37: 15:66729156-66729156 GRCh38: 15:66436818-66436818 |
43 |
KRAS |
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) |
SNV |
Pathogenic
|
40454 |
rs104894366 |
GRCh37: 12:25398218-25398218 GRCh38: 12:25245284-25245284 |
44 |
PTPN11 |
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) |
SNV |
Pathogenic
|
40486 |
rs397507505 |
GRCh37: 12:112888156-112888156 GRCh38: 12:112450352-112450352 |
45 |
RAF1 |
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) |
SNV |
Pathogenic
|
40601 |
rs3730271 |
GRCh37: 3:12645694-12645694 GRCh38: 3:12604195-12604195 |
46 |
RAF1 |
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) |
SNV |
Pathogenic
|
40602 |
rs397516827 |
GRCh37: 3:12645693-12645693 GRCh38: 3:12604194-12604194 |
47 |
CBL |
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro) |
SNV |
Pathogenic
|
477692 |
rs1377506801 |
GRCh37: 11:119148919-119148919 GRCh38: 11:119278209-119278209 |
48 |
KRAS |
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) |
SNV |
Pathogenic
|
40465 |
rs104894360 |
GRCh37: 12:25362838-25362838 GRCh38: 12:25209904-25209904 |
49 |
SOS1 |
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) |
SNV |
Pathogenic
|
40680 |
rs397517153 |
GRCh37: 2:39249920-39249920 GRCh38: 2:39022779-39022779 |
50 |
RAF1 |
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) |
SNV |
Pathogenic
|
40618 |
rs397516815 |
GRCh37: 3:12627259-12627259 GRCh38: 3:12585760-12585760 |