Skip to main content
. 2021 Jan 11;76:e2324. doi: 10.6061/clinics/2021/e2324

Table 4. Most common mutations observed in the study, their chromosomal positions, effects, and nomenclature.

Sample Chr:Pos Gene HGVS c. HGVS p. Effect
UCS2 3:178921549 PIK3CA c.1031T>C p.Val344Ala Missense
6:94120318 EPHA7 c.733G>A p.Ala245Thr Missense
7:116339356 MET c.218T>A p.Leu73Ter LOF: stop - gained
8:48776121 PRKDC c.5586delT p.Phe1862Leufs LOF: frameshift
17:7577547 TP53 c.734G>T p.Gly245Val Missense
UCS5 1:11227575 MTOR c.4254-1G>A r.spl? LOF: splice - acceptor
3:178952085 PIK3CA c.3140A>G p.His1047Arg Missense
10:76735809 KAT6B c.1714C>T p.Arg572Cys Missense
11:108114777 ATM c.594C>A p.Cys198Ter LOF: stop - gained
14:95572101 DICER1 c.3007C>T p.Arg1003Ter LOF: stop - gained
17:29588751 NF1 c.4600C>T p.Arg1534Ter LOF: stop - gained
17:29665110 NF1 c.6772C>T p.Arg2258Ter LOF: stop - gained
2:25469168 DNMT3A c.1290T>G p.Asn430Lys Missense
2:212587219 ERBB4 c.782A>C p.Gln261Pro Missense
7:98513427 TRRAP c.2281C>T p.Arg761Trp Missense
X:66766207 AR c.1219C>T p.Arg407Cys Missense
UCS9 9:139391355 NOTCH1 c.6836C>T p.Ala2279Val Missense
12:49444719 KMT2D c.2747C>T p.Pro916Leu Missense
17:7578442 TP53 c.488A>G p.Tyr163Cys Missense
UCS13 3:178916854 PIK3CA c.241G>A p.Glu81Lys Missense
14:95574253 DICER1 c.2614G>A p.Ala872Thr Missense
17:7577534 TP53 c.747G>T p.Arg249Ser Missense
7:98609947 TRRAP c.11549G>A p.Arg3850His Missense
UCS19 2:212295800 ERBB4 c.2513G>A p.Arg838Gln Missense
17:7577580 TP53 c.701A>G p.Tyr234Cys Missense
ULMS38 1:120458122 NOTCH2 c.7223T>A p.Leu2408His Missense
17:37864584 HER2 c.236A>C p.Glu79Ala Missense
19:17937659 JAK3 c.3268G>A p.Ala1090Thr Missense
ULMS39 17:7577545 TP53 c.736A>G p.Met246Val Missense
ULMS40 11:108139268 ATM c.2770C>T p.Arg924Trp Missense
17:7577120 TP53 c.818G>A p.Arg273His Missense
17:37881117 HER2 c.2446C>T p.Arg816Cys Missense
X:76891445 ATRX c.4660A>T p.Arg1554Ter LOF: stop - gained
ULMS45 11:108160506 ATM c.4414T>G p.Leu1472Val Missense
17:7578290 TP53 c.560-1G>C r.spl? LOF: splice - acceptor
16:2135281 TSC2 c.4620C>A p.Tyr1540Ter LOF: stop - gained
ULMS52 1:120459251 NOTCH2 c.6094C>A p.His2032Asn Missense
9:139400980 NOTCH1 c.4013C>T p.Ala1338Val Missense
11:118377142 KMT2A c.10535C>T p.Pro3512Leu Missense
12:49416396 KMT2D c.16315C>T p.Arg5439Trp Missense
16:2130319 TSC2 c.3551C>T p.Ala1184Val Missense
16:3779521 CREBBP c.5527T>C p.Cys1843Arg Missense
16:3790470 CREBBP c.4063G>A p.Gly1355Arg Missense
17:7574017 TP53 c.1010G>A p.Arg337His Missense
ULMS59 5:112173857 APC c.2566C>T p.Arg856Cys Missense
6:135511289 MYB c.331G>A p.Gly111Ser Missense
ULMS59 6:135539101 MYB c.2269C>T p.Arg757Trp Missense
6:152832196 SYNE1 c.352C>T p.Arg118Ter LOF: stop - gained
ULMS59 20:57429026 GNAS c.706G>A p.Asp236Asn Missense
20:57480457 GNAS c.2381A>C p.Lys794Thr Missense
ESS2 (LG-ESS) 6:152706896 SYNE1 c.8565G>A p.Trp2855Ter LOF: stop - gained
11:108175463 ATM c.5558A>T p.Asp1853Val Missense
17:7577121 TP53 c.817C>T p.Arg273Cys Missense
ESS2 17:7577139 TP53 c.799C>T p.Arg267Trp Missense
ESS3 1:145015874 PDE4DIP c.214C>T p.Arg72Ter LOF: stop - gained
5:112154777 APC c.1048T>C p.Ser350Pro Missense
5:112162855 APC c.1459G>A p.Gly487Arg Missense
6:56328464 DST c.16429C>T p.Arg5477Trp Missense
12:49418436 KMT2D c.15977T>C p.Leu5326Pro Missense
17:7578176 TP53 c.672+1G>A r.spl? LOF: splice - donor
17:29556250 NF1 c.2617C>T p.Arg873Cys Missense
17:29677234 NF1 c.7355G>T p.Arg2452Leu Missense
ESS4 11:108141990 ATM c.2934delT p.Leu979Cysfs LOF: frameshift
16:3820773 CREBBP c.2678C>T p.Ser893Leu Missense
ESS5 1:11217330 MTOR c.4348T>G p.Tyr1450Asp Missense
19:17937659 JAK3 c.3268G>A p.Ala1090Thr Missense
ESS7 6:33287248 DAXX c.1885G>A p.Val629Ile Missense
14:95590677 DICER1 c.1232C>A p.Ser411Ter LOF: stop - gained
ESS7 X:76939115 ATRX c.1633C>G p.Gln545Glu Missense
ESS9 1:144906139 PDE4DIP c.2494delC p.Gln832Argfs LOF - frameshift
1:145536012 ITGA10 c.2104G>A p.Ala702Thr Missense
3:178936091 PIK3CA c.1633G>A p.Glu545Lys Missense
5:112175711 APC c.4420G>A p.Ala1474Thr Missense
ESS58107 1:145015874 PDE4DIP c.214C>T p.Arg72Ter LOF: stop - gained
1:145536012 ITGA10 c.2104G>A p.Ala702Thr Missense
6:56328464 DST c.16429C>T p.Arg5477Trp Missense
6:135516944 MYB c.1007C>T p.Thr336Ile Missense
17:7578176 TP53 c.672+1G>A r.spl? LOF: splice - donor
X:66863156 AR c.1675A>T p.Thr559Ser Missense
ADS2 2:25467477 DNMT3A c.1599C>A p.Tyr533Ter LOF: stop - gained
6:33288629 DAXX c.959A>G p.Gln320Arg Missense
6:93979315 EPHA7 c.1513C>A p.Leu505Met Missense
7:98501128 TRRAP c.1024G>T p.Glu342Ter LOF: stop - gained
8:48711786 PRKDC c.10279G>T p.Glu3427Ter LOF: stop - gained
10:76781925 KAT6B c.3308_3310delAAG p.Glu1104del LOF: inframe/del
16:2138078 TSC2 c.5098G>T p.Ala1700Ser Missense
ULM119 7:116403114 MET c.2429A>C p.His810Pro Missense
ULM143 1:11307996 MTOR c.995_996dupGG p.Leu333Glyfs LOF: frameshift
19:17945696 JAK3 c.2164G>A p.Val722Ile Missense
ULM152 11:118344893 KMT2A c.3019G>T p.Gly1007Cys Missense