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Table 1 Clinical data of the patients and characteristics of the detected mutations

From: Number of rare germline CNVs and TP53 mutation types

ID Classification Gender TP53 mutation Effect p53 protein domain function Tumor type (age)
Y1T0 Chompret F R213Q CGA>CAA Missense DNA binding Hydathiform mole (23), Ampulla of Vater (41)
Y33T0 LFL Birch F V173M GTG>ATG Missense DNA binding Soft tissue sarcoma (23), Breast (43)
Y53T0 Eeles1 F G245S GGC>AGC Missense DNA binding Bilateral breast (36), Gall bladder (?)
Y57T0 Eeles1 F G244D GGC>GAC Missense DNA binding Breast (40), Colorectal (?)
Y65T0 Chompret F V197M GTG >ATG Missense DNA binding Colorectal (45), Lung (51), Soft tissue sarcoma (51)
Y79T0 Chompret F T125T ACG>ACA Splice DNA binding Adrenal carcinoma (1)
Y87T0 LFL/Chompret M S241Y TCC>TAC Missense DNA binding Rhabdomyosarcoma (2), Choroid plexus tumor (7), Liposarcoma (10)
Y97T1 LFS F IVS8+1G>A Splice DNA binding Breast (27)
Y103T2 LFL/Chompret F H214Q Missense DNA binding Breast (62)
Y12T1 LFS F R337H CGC>CAC Missense Tetramerisation Soft tissue sarcoma (58), Breast (59), Thyroid (61), Soft tissue sarcoma (62)
Y15T0 Chompret F R337H CGC>CAC Missense Tetramerisation Adrenal carcinoma (6), Kidney (7)
Y27T0 LFL Birch F R337H CGC>CAC Missense Tetramerisation Breast (36)
Y49T1 Eeles 1 M R337H CGC>CAC Missense Tetramerisation Kidney (64)
Y99T0 Chompret F R337H CGC>CAC Missense Tetramerisation Breast (32)
Y100T0 LFS F R337H CGC>CAC Missense Tetramerisation Breast (46)
Y106T0 Chompret F R337H CGC>CAC Missense Tetramerisation Breast (43)
Y107T0 LFS M R337H CGC>CAC Missense Tetramerisation Adrenal carcinoma (2)
Y127T0 Chompret M R337H CGC>CAC Missense Tetramerisation Adrenal carcinoma (3)
Y131T0 LFS F R337H CGC>CAC Missense Tetramerisation Leg synovial sarcoma (32)
Y144T0 Chompret F R337H CGC>CAC Missense Tetramerisation Breast (29)
Y154T0 Chompret F R337H CGC>CAC Missense Tetramerisation Breast (48)