Table 1 Previously reported germ-line mutations in the DICER1 gene

Exon 4

c.328_338dupGTGTCAGCTGT

p.Arg114Cysfs*18

Slade et al.[11]

Exon 7

c.876_879delAAAG

p.Arg293Ilefs*4

Rio Frio et al.[4]

Exon 8

c.912_919dupAGACTGTC

p.Arg307Glnfs*8

Foulkes et al.[7]

Exon 8

c.1128_1132delAGTAA

p.Lys376Asnfs*11

Sabbaghian et al.[8]

Exon 8

c.1153delC

p.Arg385Alafs*73

Slade et al.[11]

Exon 8

c.1196_1197dupAG

p.Trp400Serfs*59

Slade et al.[11]

Exon 8

c.1306dupT

p.Ser436Phefs*41

Foulkes et al.[7]

Exon 9

c.1507G>T

p.Glu503*

Hill et al.[5]

Exon 10

c.1525C>T

p.Arg509*

Darrat et al. 2013

Exon 10

c.1684_1685delAT

p.Met562Valfs*11

Hill et al.[5]

Exon 10

c.1716delT

p.Phe572Leufs*15

Slade et al.[11]

Exon 12

c.1910dupA

p.Tyr637*

Doros et al.[10]; Hill et al.[5]

Exon 12

c.1966C>T

p.Arg656*

Foulkes et al.[7]; Slade et al.[11]; Hill et al.[5] (reported in four individuals)

Intron 12

c.2040+1G>C

p.?

Slade et al.[11]

Intron 13

c.2117-1G>A

p.?

Foulkes et al.[7]

Exon 14

c.2245_2248dupTACC

p.Pro750Leufs*12

Hill et al.[5]

Exon 14

c.2247C>A

p.Tyr749*

Doros et al.[10]; Hill et al.[5]

Exon 15

c.2268_2271delTTTG

p.Cys756*

Slade et al.[11]

Exon 15

c.2392dupA

p.Thr798Asnfs*33

Hill et al.[5]

Exon 16

c.2457C>G

p.Ile813_Tyr819del

Rio Frio et al.[4]

r.2437_2457del21

Exon 16

c.2516C>T

p.Ser839Phe

Rio Frio et al.[4]

Intron 17

c.2805-1G>T

p.Tyr936_Arg996del

Rio Frio et al.[4]

r.2805_2987del183

Exon 18

c.2830C>T

p.Arg944*

Hill et al.[5]

Intron 18

c.2988-2_2988-1delAGinsCT

p.?

Slade et al.[11]

Exon 21

c.3270-6_4051 – 1280delinsG

p.Tyr1091Ser*28

Sabbaghian et al.[13]

Exon 21

c.3288_3289insTTTC

p.Gly1097Phefs*8

Slade et al.[11]

Exon 21

c.3505delT

p.Ser1169Glnfs*23

Slade et al.[11]

Exon 21

c.3540C>A

p.Tyr1180*

Hill et al.[5]

Exon 21

c.3583_3584delGA

p.Asp1195Leufs*39

Slade et al.[11]

Exon 21

c.3611_3616delACTACAinsT

p.Tyr1204Leufs*29

Foulkes et al.[7]

Exon 21

c.3647C>A

p.Ser1216*

This study

Exon 21

c.3665delT

p.Leu1222Tyrfs*17

Slade et al.[11]

Exon 21

c.3726C>A

p.Tyr1242*

Slade et al.[11]

Exon 21

c.3793delA

p.Thr1265Glnfs*37

Slade et al.[11]

Exon 21

c.3907_3908delCT

p.Leu1303Valfs*4

Foulkes et al.[7]

Intron 21

c.4050+1delG

p.?

Foulkes et al.[7]

Exon 23

c.4309_4312delGACT

p.Asp1437Metfs*16

Bahubeshi et al.[3]; Doros et al.[10]

Exon 23

c.4403_4406delCTCT

p.Ser1468Phefs*21

Slade et al.[11]

Exon 23

c.4740G>T

p.Gln1580His

Slade et al.[11]

Exon 23

c.4748T>G

p.Leu1583Arg

Hill et al.[5]

Exon 23

c.5018_5021delTCAA

p.Ile1673Thrfs*31

Rio Frio et al.[4]

Exon 24

c.5104C>T

p.Gln1702*

Doros et al.[10]; Dehner et al.[9]

Exon 24

c.5122_5128delGGAGATG

p.Gly1708Argfs*7

Slade et al.[11]

Exon 25

c.5465A>T

p.Asp1822Val

Slade et al.[11]

Exon 25

c.5477C>A

p.Ser1826*

Bahubeshi et al.[3]