Table 4.

Mutated genes identified in samples with matched germline DNA: 1, 18, and 24

SampleSymbolChromosomeProtein variationConsequence
1 & 24ALPL1Trp270TerStop gained
1 & 24CNNM110Val887IleMissense
1 & 24COL3A12Pro983SerMissense
1 & 24DNAH117Phe464IleMissense
1 & 24FBXW1017Thr248AsnMissense
1 & 24RHOT216Ala394SerMissense
1 & 24SMAD315Ser264CysMissense
1 & 24SPRTN1Glu37AspMissense
1 & 24TXNRD33Met220IleMissense
1 & 24USP716Met499ValMissense
1CILP219Ala491ThrMissense
1CLNK4Pro274LeuMissense
1CTB-186H2.317Leu45MetMissense
1SHKBP119Arg657SerMissense
1SPTBN515Ala3417SerMissense
24TTLL119Gly516ValMissense
24XIAPXLys448GlnMissense
18ANKRD5212Pro128HisMissense
18ATP8B21Asp476AsnMissense
18DCDC2C2His100TyrMissense
18GJA313Ala290SerMissense
18ITPR36Asp2170AsnMissense
18KCND1XAsp457AsnMissense
18LRP22.Splice donor
18MEFV16His596GlnMissense
18PLA2G1611Ile14PheMissense
18SLC4A44Asp960TyrMissense
18STX61Gln148ArgMissense
18TMEM13411Arg122GlnMissense
18UROC13Gly10AlaMissense
18ITPR36Asp2170AsnMissense
18KCND1XAsp457AsnMissense
18LRP22.Splice donor
18MEFV16His596GlnMissense
18PLA2G1611Ile14PheMissense
18SLC4A44Asp960TyrMissense
18STX61Gln148ArgMissense
18TMEM13411Arg122GlnMissense
18UROC13Gly10AlaMissense
18VPS1111Gly346TrpMissense
1, 18, and 24FOXL23Cys134TrpMissense