PMID: 22675565

High accuracy mutation detection in leukemia on a selected panel of cancer genes.

PloS one
Kalender Atak, Zeynep Z, De Keersmaecker, Kim K, Gianfelici, Valentina V, Geerdens, Ellen E, Vandepoel, Roel R, Pauwels, Daphnie D, Porcu, Michaƫl M, Lahortiga, Idoya I, Brys, Vanessa V, Dirks, Willy G WG, Quentmeier, Hilmar H, Cloos, Jacqueline J, Cuppens, Harry H, Uyttebroeck, Anne A, Vandenberghe, Peter P, Cools, Jan J, Aerts, Stein S
2012

316 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-28592653-C-T FLT3 c.2492G>A p.G831E Missense 20/24 -
4-1807803-G-A FGFR3 c.1862G>A p.R621H Missense 14/18 -
19-17945918-A-G JAK3 c.2021T>C p.V674A Missense 15/24 -
X-133549136-C-T PHF6 c.820C>T p.R274* Nonsense 8/11 -
X-133527636-C-T PHF6 c.346C>T p.R116* Nonsense 4/11 -
10-89720670-G-A PTEN c.821G>A p.W274* Nonsense 8/9 -
10-89720671-G-A PTEN c.822G>A p.W274* Nonsense 8/9 -
10-123256158-A-C FGFR2 c.1751T>G p.M584R Missense 13/18 -
7-116339280-G-A MET c.142G>A p.A48T Missense 2/21 -
4-1803247-G-A FGFR3 c.599G>A p.R200H Missense 5/18 -
7-116339709-C-T MET c.571C>T p.R191W Missense 2/21 -
9-139397775-C-T NOTCH1 c.5026G>A p.V1676I Missense 27/34 -
22-30074278-A-G NF2 c.1540A>G p.M514V Missense 14/16 -
9-5089783-A-G JAK2 c.2681A>G p.D894G Missense 20/25 -
1-32745458-C-T LCK c.1058C>T p.A353V Missense 11/13 -
9-5126715-A-G JAK2 c.3323A>G p.N1108S Missense 25/25 -
9-139393398-C-T NOTCH1 c.6133G>A p.V2045I Missense 33/34 -
17-29587482-G-A NF1 c.4526G>A p.R1509H Missense 34/58 -
17-29654825-A-G NF1 c.5577A>G p.L1859= Synonymous 38/58 -
17-29657398-A-G NF1 c.5694A>G p.L1898= Synonymous 39/58 -
17-29657335-G-T NF1 c.5631G>T p.L1877= Synonymous 39/58 -
17-29657335-G-A NF1 c.5631G>A p.L1877= Synonymous 39/58 -
17-29657335-G-C NF1 c.5631G>C p.L1877= Synonymous 39/58 -
17-29657333-C-T NF1 c.5629C>T p.L1877= Synonymous 39/58 -
3-41274877-G-A CTNNB1 c.1127G>A p.R376H Missense 8/15 -
17-29663767-C-T NF1 c.6262C>T p.L2088= Synonymous 42/58 -
4-55564642-G-A KIT c.530G>A p.R177H Missense 3/21 -
19-1220420-C-T STK11 c.513C>T p.G171= Synonymous 4/10 -
19-1221967-G-A STK11 c.882G>A p.P294= Synonymous 7/10 -
5-149515219-G-A PDGFRB c.263C>T p.T88I Missense 3/23 -
4-55980326-C-T KDR c.765G>A p.G255= Synonymous 6/30 -
7-6027197-T-G PMS2 c.1199A>C p.Q400P Missense 11/15 -
19-17951085-C-T JAK3 c.1208G>A p.R403H Missense 9/24 -
4-55976872-C-T KDR c.1040G>A p.R347H Missense 8/30 -
13-28608087-C-T FLT3 c.1879G>A p.A627T Missense 15/24 -
10-89692993-G-T PTEN c.477G>T p.R159S Missense 5/9 -
13-48939097-G-A RB1 c.929G>A p.G310E Missense 9/27 -
2-48026605-C-T MSH6 c.1483C>T p.R495* Nonsense 4/10 -
9-139399344-A-G NOTCH1 c.4799T>C p.L1600P Missense 26/34 -
11-32413565-C-T WT1 c.1385G>A p.R467Q Missense 9/10 -
13-48951099-G-A RB1 c.1261G>A p.D421N Missense 13/27 -
7-6022480-C-T PMS2 c.2149G>A p.V717M Missense 12/15 -
17-12028632-G-A MAP2K4 c.835G>A p.A279T Missense 8/11 -
19-10488979-G-A TYK2 c.104C>T p.A35V Missense 3/25 -
19-17948010-C-T JAK3 c.1714G>A p.A572T Missense 13/24 -
10-70406375-C-T TET1 c.3889C>T p.H1297Y Missense 4/12 -
19-10467373-G-A TYK2 c.2488C>T p.Q830* Nonsense 18/25 -
19-10477147-C-T TYK2 c.575G>A p.C192Y Missense 6/25 -
19-17953171-C-T JAK3 c.815G>A p.R272H Missense 6/24 -
9-139399365-A-G NOTCH1 c.4778T>C p.L1593P Missense 26/34 -
19-10463722-C-T TYK2 c.3080G>A p.R1027H Missense 22/25 -
19-10489039-A-G TYK2 c.44T>C p.V15A Missense 3/25 -
4-55961055-C-T KDR c.2885G>A p.R962H Missense 21/30 -
10-89685275-T-G PTEN c.170T>G p.L57W Missense 3/9 -
5-112176057-G-A APC c.4766G>A p.R1589H Missense 16/16 -
1-32751127-C-T LCK c.1340C>T p.P447L Missense 13/13 -
6-37139039-C-T PIM1 c.379C>T p.Q127* Nonsense 4/6 -
3-178948136-G-A PIK3CA c.2908G>A p.E970K Missense 20/21 -
3-37067231-A-G MLH1 c.1142A>G p.H381R Missense 12/19 -
13-49033838-T-C RB1 c.1975T>C p.Y659H Missense 20/27 -
7-6017220-G-A PMS2 c.2444C>T p.S815L Missense 14/15 -
4-55564503-G-A KIT c.391G>A p.D131N Missense 3/21 -
5-112137003-G-A APC c.757G>A p.G253S Missense 8/16 -
7-55210117-T-C EGFR c.227T>C p.L76P Missense 2/28 -
7-55273029-G-A EGFR c.3352G>A p.A1118T Missense 28/28 -
4-1807363-A-T FGFR3 c.1612A>T p.I538F Missense 12/18 -
4-55946186-C-T KDR c.3993G>A p.E1331= Synonymous 30/30 -
4-1807793-C-T FGFR3 c.1852C>T p.L618= Synonymous 14/18 -
12-112940006-C-T PTPN11 c.1658C>T p.T553M Missense 14/16 -
19-1226552-A-T STK11 c.1208A>T p.K403I Missense 9/10 -
19-1226618-G-A STK11 c.1274G>A p.R425H Missense 9/10 -
5-149495372-G-A PDGFRB c.3275C>T p.S1092L Missense 23/23 -
22-24175889-A-G SMARCB1 c.1117A>G p.R373G Missense 8/9 -
10-89692993-G-C PTEN c.477G>C p.R159S Missense 5/9 -
19-1220431-A-T STK11 c.524A>T p.K175M Missense 4/10 -
1-115251173-G-A NRAS c.553C>T p.P185S Missense 5/7 -
4-106162531-A-G TET2 c.3445A>G p.T1149A Missense 4/11 -
9-139408998-G-A NOTCH1 c.2171C>T p.P724L Missense 13/34 -
2-48032825-C-T MSH6 c.3625C>T p.L1209= Synonymous 7/10 -
3-178921372-T-C PIK3CA c.854T>C p.L285S Missense 5/21 -
11-534270-G-A HRAS c.53C>T p.A18V Missense 2/6 -
17-37873592-C-G ERBB2 c.1757C>G p.A586G Missense 15/27 -
11-32456326-G-C WT1 c.581C>G p.S194* Nonsense 1/10 -
17-7577138-C-A TP53 c.800G>T p.R267L Missense 8/11 -
7-55229298-C-T EGFR c.1605C>T p.C535= Synonymous 13/28 -
3-178947156-C-T PIK3CA c.2592C>T p.G864= Synonymous 18/21 -
3-178947156-C-G PIK3CA c.2592C>G p.G864= Synonymous 18/21 -
3-178947156-C-A PIK3CA c.2592C>A p.G864= Synonymous 18/21 -
7-6038760-G-A PMS2 c.684C>T p.G228= Synonymous 6/15 -
17-37866345-G-A ERBB2 c.650G>A p.R217H Missense 6/27 -
11-32456326-G-T WT1 c.566C>A p.S194* Nonsense 1/10 -
21-36252917-C-T RUNX1 c.445G>A p.A149T Missense 5/9 -
11-533503-C-A HRAS c.400G>T p.A134S Missense 4/6 -
7-55210101-C-T EGFR c.211C>T p.Q71* Nonsense 2/28 -
9-98238332-C-T PTCH1 c.1712G>A p.R571Q Missense 12/24 -
10-43615557-A-G RET c.2636A>G p.N879S Missense 15/20 -
17-29653027-C-T NF1 c.5025C>T p.S1675= Synonymous 37/58 -
17-29663769-G-C NF1 c.6264G>C p.L2088= Synonymous 42/58 -
4-55980326-C-A KDR c.765G>T p.G255= Synonymous 6/30 -
4-55980326-C-G KDR c.765G>C p.G255= Synonymous 6/30 -
3-178938836-G-A PIK3CA c.2078G>A p.R693H Missense 14/21 -
11-533879-G-A HRAS c.177C>T p.A59= Synonymous 3/6 -
11-533879-G-C HRAS c.177C>G p.A59= Synonymous 3/6 -
22-24167480-C-G SMARCB1 c.864C>G p.N288K Missense 7/9 -
22-24167480-C-A SMARCB1 c.864C>A p.N288K Missense 7/9 -
9-139412697-C-T NOTCH1 c.1147G>A p.E383K Missense 7/34 -
9-98231239-G-A PTCH1 c.2044C>T p.R682C Missense 14/24 -
7-140500166-T-C BRAF c.976A>G p.I326V Missense 7/18 -
X-133551246-A-G PHF6 c.882A>G p.I294M Missense 9/11 -
2-47639569-G-T MSH2 c.662G>T p.G221V Missense 4/16 -
5-149502651-C-T PDGFRB c.2137G>A p.A713T Missense 15/23 -
2-48018147-C-A MSH6 c.342C>A p.P114= Synonymous 2/10 -
4-1806613-G-T FGFR3 c.1329G>T p.L443= Synonymous 10/18 -
4-1806613-G-A FGFR3 c.1329G>A p.L443= Synonymous 10/18 -
4-1806613-G-C FGFR3 c.1329G>C p.L443= Synonymous 10/18 -
4-1806611-C-T FGFR3 c.1327C>T p.L443= Synonymous 10/18 -
2-48032827-G-T MSH6 c.3627G>T p.L1209= Synonymous 7/10 -
2-48032827-G-A MSH6 c.3627G>A p.L1209= Synonymous 7/10 -
2-48032827-G-C MSH6 c.3627G>C p.L1209= Synonymous 7/10 -
3-178928059-G-A PIK3CA c.1337G>A p.W446* Nonsense 8/21 -
3-178928060-G-A PIK3CA c.1338G>A p.W446* Nonsense 8/21 -
1-43812513-C-G MPL c.1216C>G p.L406V Missense 8/12 -
4-1807130-C-A FGFR3 c.1461C>A p.V487= Synonymous 11/18 -
4-1807130-C-G FGFR3 c.1461C>G p.V487= Synonymous 11/18 -
4-1807130-C-T FGFR3 c.1461C>T p.V487= Synonymous 11/18 -
4-55595604-A-C KIT c.2094A>C p.A698= Synonymous 14/21 -
4-55595604-A-T KIT c.2094A>T p.A698= Synonymous 14/21 -
5-112177872-T-C APC c.6581T>C p.V2194A Missense 16/16 -
8-38272121-T-C FGFR1 c.2004A>G p.A668= Synonymous 15/18 -
8-38272121-T-A FGFR1 c.2004A>T p.A668= Synonymous 15/18 -
5-149505072-G-A PDGFRB c.1743C>T p.Y581= Synonymous 12/23 -
6-37138625-C-T PIM1 c.159C>T p.Y53= Synonymous 2/6 -
5-67589600-C-A PIK3R1 c.1363C>A p.Q455K Missense 11/16 -
5-112174131-G-A APC c.2840G>A p.C947Y Missense 16/16 -
4-55984959-C-G KDR c.170G>C p.R57T Missense 3/30 -
4-55130056-A-G PDGFRA c.590A>G p.K197R Missense 4/23 -
7-6038760-G-C PMS2 c.684C>G p.G228= Synonymous 6/15 -
7-6038760-G-T PMS2 c.684C>A p.G228= Synonymous 6/15 -
9-139395054-G-T NOTCH1 c.5884C>A p.R1962S Missense 31/34 -
5-149513252-G-T PDGFRB c.831C>A p.H277Q Missense 6/23 -
5-149513252-G-C PDGFRB c.831C>G p.H277Q Missense 6/23 -
9-139399466-C-A NOTCH1 c.4677G>T p.L1559= Synonymous 26/34 -
9-139399466-C-T NOTCH1 c.4677G>A p.L1559= Synonymous 26/34 -
9-139399466-C-G NOTCH1 c.4677G>C p.L1559= Synonymous 26/34 -
9-139399468-G-A NOTCH1 c.4675C>T p.L1559= Synonymous 26/34 -
9-139391455-G-A NOTCH1 c.6736C>T p.H2246Y Missense 34/34 -
7-116398526-A-G MET c.2116A>G p.I706V Missense 9/21 -
7-55221708-G-A EGFR c.752G>A p.C251Y Missense 7/28 -
5-149501471-C-G PDGFRB c.2316G>C p.M772I Missense 16/23 -
5-149501471-C-T PDGFRB c.2316G>A p.M772I Missense 16/23 -
5-149501471-C-A PDGFRB c.2316G>T p.M772I Missense 16/23 -
7-140449108-T-A BRAF c.1971A>T p.S657= Synonymous 16/18 -
7-140449108-T-C BRAF c.1971A>G p.S657= Synonymous 16/18 -
7-140449108-T-G BRAF c.1971A>C p.S657= Synonymous 16/18 -
4-106157742-G-A TET2 c.2643G>A p.R881= Synonymous 3/11 -
4-106157740-A-C TET2 c.2641A>C p.R881= Synonymous 3/11 -
4-55980389-A-C KDR c.702T>G p.I234M Missense 6/30 -
5-67589598-C-T PIK3R1 c.1361C>T p.T454I Missense 11/16 -
5-149499648-G-T PDGFRB c.2625C>A p.I875= Synonymous 19/23 -
5-149499648-G-A PDGFRB c.2625C>T p.I875= Synonymous 19/23 -
7-116339608-A-G MET c.470A>G p.E157G Missense 2/21 -
4-55592140-G-A KIT c.1464G>A p.T488= Synonymous 9/21 -
4-55592140-G-T KIT c.1464G>T p.T488= Synonymous 9/21 -
4-55592140-G-C KIT c.1464G>C p.T488= Synonymous 9/21 -
4-106196426-G-A TET2 c.4759G>A p.D1587N Missense 11/11 -
21-36259238-G-T RUNX1 c.253C>A p.H85N Missense 4/9 -
4-94750608-C-T ATOH1 c.531C>T p.H177= Synonymous 1/1 -
4-1803407-T-C FGFR3 c.676T>C p.Y226H Missense 6/18 -
3-41266888-G-A CTNNB1 c.559G>A p.A187T Missense 5/15 -
4-94750410-C-T ATOH1 c.333C>T p.G111= Synonymous 1/1 -
4-94750410-C-G ATOH1 c.333C>G p.G111= Synonymous 1/1 -
4-94750410-C-A ATOH1 c.333C>A p.G111= Synonymous 1/1 -
3-37067188-A-G MLH1 c.1099A>G p.T367A Missense 12/19 -
1-43814954-G-A MPL c.1489G>A p.A497T Missense 10/12 -
4-1807795-G-T FGFR3 c.1854G>T p.L618= Synonymous 14/18 -
4-1807795-G-A FGFR3 c.1854G>A p.L618= Synonymous 14/18 -
4-1807795-G-C FGFR3 c.1854G>C p.L618= Synonymous 14/18 -
1-65321214-G-T JAK1 c.1626C>A p.R542= Synonymous 11/25 -
1-65321214-G-C JAK1 c.1626C>G p.R542= Synonymous 11/25 -
1-65321214-G-A JAK1 c.1626C>T p.R542= Synonymous 11/25 -
1-43814572-G-A MPL c.1367G>A p.R456H Missense 9/12 -
4-1808309-G-A FGFR3 c.2067G>A p.T689= Synonymous 16/18 -
4-1808309-G-T FGFR3 c.2067G>T p.T689= Synonymous 16/18 -
4-1808309-G-C FGFR3 c.2067G>C p.T689= Synonymous 16/18 -
2-48032826-T-A MSH6 c.3626T>A p.L1209Q Missense 7/10 -
4-1803228-G-A FGFR3 c.580G>A p.E194K Missense 5/18 -
2-48018147-C-T MSH6 c.342C>T p.P114= Synonymous 2/10 -
2-48018147-C-G MSH6 c.342C>G p.P114= Synonymous 2/10 -
4-55595604-A-G KIT c.2094A>G p.A698= Synonymous 14/21 -
5-112163642-T-C APC c.1565T>C p.M522T Missense 13/16 -
8-38272121-T-G FGFR1 c.2004A>C p.A668= Synonymous 15/18 -
5-149513461-T-C PDGFRB c.742A>G p.T248A Missense 5/23 -
9-139399317-T-A NOTCH1 c.4826A>T p.D1609V Missense 26/34 -
5-149501506-C-T PDGFRB c.2281G>A p.V761I Missense 16/23 -
4-55141047-A-G PDGFRA c.1693A>G p.I565V Missense 12/23 -
4-1806199-G-T FGFR3 c.1218G>T p.L406= Synonymous 9/18 -
4-1806199-G-A FGFR3 c.1218G>A p.L406= Synonymous 9/18 -
4-1806199-G-C FGFR3 c.1218G>C p.L406= Synonymous 9/18 -
4-1806197-C-T FGFR3 c.1216C>T p.L406= Synonymous 9/18 -
9-139438487-C-T NOTCH1 c.129G>A p.T43= Synonymous 2/34 -
9-139438487-C-A NOTCH1 c.129G>T p.T43= Synonymous 2/34 -
9-139438487-C-G NOTCH1 c.129G>C p.T43= Synonymous 2/34 -
12-12022641-C-T ETV6 c.747C>T p.S249= Synonymous 5/8 -
2-48027431-G-T MSH6 c.2309G>T p.G770V Missense 4/10 -
1-32751285-G-A LCK c.1498G>A p.A500T Missense 13/13 -
4-1807825-C-T FGFR3 c.1884C>T p.D628= Synonymous 14/18 -
2-47656994-A-G MSH2 c.1190A>G p.Q397R Missense 7/16 -
4-1807299-C-T FGFR3 c.1548C>T p.D516= Synonymous 12/18 -
1-32745478-T-C LCK c.1078T>C p.Y360H Missense 11/13 -
17-37884053-C-G ERBB2 c.3524C>G p.P1175R Missense 27/27 -
12-12022641-C-G ETV6 c.747C>G p.S249= Synonymous 5/8 -
9-139397714-G-T NOTCH1 c.5087C>A p.A1696D Missense 27/34 -
12-12022641-C-A ETV6 c.747C>A p.S249= Synonymous 5/8 -
9-139395247-C-T NOTCH1 c.5691G>A p.T1897= Synonymous 31/34 -
9-139395247-C-A NOTCH1 c.5691G>T p.T1897= Synonymous 31/34 -
9-139395247-C-G NOTCH1 c.5691G>C p.T1897= Synonymous 31/34 -
12-58145122-C-A CDK4 c.222G>T p.L74= Synonymous 3/8 -
13-28636135-G-T FLT3 c.237C>A p.A79= Synonymous 3/24 -
13-28636135-G-C FLT3 c.237C>G p.A79= Synonymous 3/24 -
13-28636135-G-A FLT3 c.237C>T p.A79= Synonymous 3/24 -
9-98244246-C-A PTCH1 c.731G>T p.G244V Missense 5/24 -
9-139412622-C-T NOTCH1 c.1222G>A p.A408T Missense 7/34 -
9-98218672-C-T PTCH1 c.3192G>A p.T1064= Synonymous 19/24 -
9-98218672-C-A PTCH1 c.3192G>T p.T1064= Synonymous 19/24 -
9-98218672-C-G PTCH1 c.3192G>C p.T1064= Synonymous 19/24 -
12-12022876-C-T ETV6 c.982C>T p.H328Y Missense 5/8 -
9-139413917-G-A NOTCH1 c.843C>T p.C281= Synonymous 5/34 -
9-139396284-C-T NOTCH1 c.5554G>A p.D1852N Missense 30/34 -
12-58145122-C-T CDK4 c.222G>A p.L74= Synonymous 3/8 -
12-58145122-C-G CDK4 c.222G>C p.L74= Synonymous 3/8 -
12-58145124-G-A CDK4 c.220C>T p.L74= Synonymous 3/8 -
12-112888229-T-C PTPN11 c.245T>C p.M82T Missense 3/16 -
12-112915693-G-A PTPN11 c.966G>A p.K322= Synonymous 9/16 -
12-58144745-C-A CDK4 c.483G>T p.L161= Synonymous 4/8 -
12-58144745-C-T CDK4 c.483G>A p.L161= Synonymous 4/8 -
12-58144745-C-G CDK4 c.483G>C p.L161= Synonymous 4/8 -
12-58144747-G-A CDK4 c.481C>T p.L161= Synonymous 4/8 -
16-11349133-G-A SOCS1 c.203C>T p.T68M Missense 2/2 -
13-28674639-C-T FLT3 c.9G>A p.A3= Synonymous 1/24 -
13-28674639-C-G FLT3 c.9G>C p.A3= Synonymous 1/24 -
13-28674639-C-A FLT3 c.9G>T p.A3= Synonymous 1/24 -
9-98211468-C-T PTCH1 c.3687G>A p.T1229= Synonymous 22/24 -
9-98211468-C-A PTCH1 c.3687G>T p.T1229= Synonymous 22/24 -
9-98211468-C-G PTCH1 c.3687G>C p.T1229= Synonymous 22/24 -
9-5089842-A-G JAK2 c.2740A>G p.K914E Missense 20/25 -
11-32410675-G-A WT1 c.1483C>T p.R500W Missense 10/10 -
9-98215834-G-A PTCH1 c.3375C>T p.P1125= Synonymous 20/24 -
9-98215834-G-C PTCH1 c.3375C>G p.P1125= Synonymous 20/24 -
9-98215834-G-T PTCH1 c.3375C>A p.P1125= Synonymous 20/24 -
11-533879-G-T HRAS c.177C>A p.A59= Synonymous 3/6 -
10-43620396-G-A RET c.3005G>A p.S1002N Missense 18/20 -
10-43610015-G-T RET c.1967G>T p.C656F Missense 11/20 -
9-98221976-G-A PTCH1 c.2793C>T p.P931= Synonymous 17/24 -
9-98221976-G-C PTCH1 c.2793C>G p.P931= Synonymous 17/24 -
9-98221976-G-T PTCH1 c.2793C>A p.P931= Synonymous 17/24 -
10-89717714-T-C PTEN c.739T>C p.L247= Synonymous 7/9 -
10-89717716-A-G PTEN c.741A>G p.L247= Synonymous 7/9 -
10-89717707-T-G PTEN c.732T>G p.P244= Synonymous 7/9 -
10-89717707-T-A PTEN c.732T>A p.P244= Synonymous 7/9 -
10-89717707-T-C PTEN c.732T>C p.P244= Synonymous 7/9 -
9-5089827-A-G JAK2 c.2725A>G p.N909D Missense 20/25 -
9-5123073-T-A JAK2 c.3129T>A p.V1043= Synonymous 23/25 -
9-5123073-T-C JAK2 c.3129T>C p.V1043= Synonymous 23/25 -
9-5123073-T-G JAK2 c.3129T>G p.V1043= Synonymous 23/25 -
10-43597797-C-T RET c.345C>T p.G115= Synonymous 3/20 -
10-43597797-C-G RET c.345C>G p.G115= Synonymous 3/20 -
10-43597797-C-A RET c.345C>A p.G115= Synonymous 3/20 -
19-1220420-C-A STK11 c.513C>A p.G171= Synonymous 4/10 -
17-29653027-C-G NF1 c.5025C>G p.S1675= Synonymous 37/58 -
17-29653027-C-A NF1 c.5025C>A p.S1675= Synonymous 37/58 -
17-29657342-T-C NF1 c.5638T>C p.L1880= Synonymous 39/58 -
17-29657344-A-G NF1 c.5640A>G p.L1880= Synonymous 39/58 -
17-37881358-C-T ERBB2 c.2550C>T p.N850= Synonymous 21/27 -
17-29663769-G-T NF1 c.6264G>T p.L2088= Synonymous 42/58 -
17-29663769-G-A NF1 c.6264G>A p.L2088= Synonymous 42/58 -
17-11984789-C-T MAP2K4 c.335C>T p.A112V Missense 3/11 -
19-17953235-C-T JAK3 c.751G>A p.A251T Missense 6/24 -
19-17948756-G-A JAK3 c.1686C>T p.H562= Synonymous 12/24 -
17-37882856-T-C ERBB2 c.2914T>C p.L972= Synonymous 24/27 -
17-37882858-G-A ERBB2 c.2916G>A p.L972= Synonymous 24/27 -
19-17943449-G-T JAK3 c.2559C>A p.A853= Synonymous 19/24 -
19-17943449-G-C JAK3 c.2559C>G p.A853= Synonymous 19/24 -
19-17943449-G-A JAK3 c.2559C>T p.A853= Synonymous 19/24 -
17-29587491-G-T NF1 c.4535G>T p.W1512L Missense 34/58 -
19-1207136-G-T STK11 c.224G>T p.R75M Missense 1/10 -
19-1221967-G-T STK11 c.882G>T p.P294= Synonymous 7/10 -
19-1221967-G-C STK11 c.882G>C p.P294= Synonymous 7/10 -
22-30090747-T-C NF2 c.1744T>C p.L582= Synonymous 16/16 -
22-30090749-G-A NF2 c.1746G>A p.L582= Synonymous 16/16 -
17-37868604-C-T ERBB2 c.1051C>T p.R351* Nonsense 9/27 -
19-17941019-C-A JAK3 c.3105G>T p.L1035= Synonymous 23/24 -
19-17941019-C-T JAK3 c.3105G>A p.L1035= Synonymous 23/24 -
19-17941019-C-G JAK3 c.3105G>C p.L1035= Synonymous 23/24 -
19-17941021-G-A JAK3 c.3103C>T p.L1035= Synonymous 23/24 -
17-29663822-T-C NF1 c.6317T>C p.V2106A Missense 42/58 -
21-36164767-C-T RUNX1 c.1108G>A p.A370T Missense 9/9 -
17-29654823-T-C NF1 c.5575T>C p.L1859= Synonymous 38/58 -
X-133547898-A-G PHF6 c.631A>G p.K211E Missense 7/11 -
X-48650408-A-T GATA1 c.378A>T p.G126= Synonymous 3/6 -
X-48650408-A-G GATA1 c.378A>G p.G126= Synonymous 3/6 -
X-48650408-A-C GATA1 c.378A>C p.G126= Synonymous 3/6 -
X-133551280-G-T PHF6 c.916G>T p.G306* Nonsense 9/11 -
19-10464816-C-G TYK2 c.2810G>C p.G937A Missense 20/25 -
19-10473129-G-A TYK2 c.1480C>T p.P494S Missense 11/25 -
19-10475612-G-A TYK2 c.1124C>T p.A375V Missense 8/25 -
19-10476477-G-A TYK2 c.727C>T p.R243W Missense 7/25 -
19-10476383-C-T TYK2 c.821G>A p.R274H Missense 7/25 -
19-10464763-A-G TYK2 c.2863T>C p.Y955H Missense 20/25 -
16-11348952-C-T SOCS1 c.384G>A p.V128= Synonymous 2/2 -
16-11348952-C-G SOCS1 c.384G>C p.V128= Synonymous 2/2 -
16-11348952-C-A SOCS1 c.384G>T p.V128= Synonymous 2/2 -
19-1219410-C-T STK11 c.462C>T p.H154= Synonymous 3/10 -
17-29588745-G-A NF1 c.4594G>A p.G1532R Missense 35/58 -
17-29588745-G-C NF1 c.4594G>C p.G1532R Missense 35/58 -
17-29657396-T-C NF1 c.5692T>C p.L1898= Synonymous 39/58 -
19-1220420-C-G STK11 c.513C>G p.G171= Synonymous 4/10 -