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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)