Table 2. Summary of repeated or... | American Society of Hematology

Table 2.

Summary of repeated or oncogenic overlapping mutations across patients with SS

Hugo symbol	Patient 1	Patient 2	Patient 3	Patient 4
MAP6		c.C1739T		c.C408A
PKD2		c.C2384T		c.C2395T
UNC80∗		c.C5415T	c.T7519A
TP53∗		+	c.262delT	c.G42A
GLI2		+	c.C1506T
SCN2A		+	c.G1492A
TNK2∗	+		+
FBN1		+	+
CATSPERE		+		+
JPH3		+		+
WDFY4		+		+
RP1			+	+
LAMA1			+	+
CADPS			+	+
ARID1A∗		c.C6382T
ARID1A∗		c.C6381T
ARID1B∗				c.C2722T

Hugo symbol	Patient 1	Patient 2	Patient 3	Patient 4
MAP6		c.C1739T		c.C408A
PKD2		c.C2384T		c.C2395T
UNC80∗		c.C5415T	c.T7519A
TP53∗		+	c.262delT	c.G42A
GLI2		+	c.C1506T
SCN2A		+	c.G1492A
TNK2∗	+		+
FBN1		+	+
CATSPERE		+		+
JPH3		+		+
WDFY4		+		+
RP1			+	+
LAMA1			+	+
CADPS			+	+
ARID1A∗		c.C6382T
ARID1A∗		c.C6381T
ARID1B∗				c.C2722T

Whole-exome sequencing was performed on samples as previously described. Mutations which occurred in genes more than once across patient samples are shown or in oncogenes. ⁺Intronic region.

∗

Previously described oncogenes.

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