Table 1 Germline mutations in Birt-Hogg-Dubé syndrome

Exon 1

Exon1 deletion

Splice mutation

Exon 1

c.-487G > C

Splice mutation

Exon 1

c.-302G > A

Splice mutation

Exon 1

c.-299C > T

Splice mutation

Exon 1

chr17:17080497_17087267del; 17084378_17084502invins

Splice mutation

Exon 1

chr17:17078506_17084897del

Splice mutation

Exon 1

chr17:17080610_17086298del; insCCATGGGGG

Splice mutation

Exon 2–5

c.-227-853_c.397-295del

Splice mutation

Exon 3

c.-90A > G

Splice mutation

Exon 3

c. − 84G > A

Splice mutation

Exon 4

c.1A > G

p.Met1Val

Exon 4

c.3delG

p.Met1Xfs

Exon 4

c.3G > A

p.Met1?

Exon 4

c.50G > C

p.Arg17Pro

Exon 4

c.57_58delCT

p.Phe20Xfs

Exon 4

c.59delT

p.Phe20Xfs

Exon 4

c.119delG

p.Gly40Xfs

Exon 4

c.145G > T

p.Glu49^a

Exon 4

c.147delA

p.Glu49Xfs

Exon 4

c.157C > T

p.Gln53^a

Exon 4

c.158delA

p.Gln53Xfs

Exon 4

c.214delA

p.Ser72Xfs

Exon 4

c.235_238delTCGG

p.Ser79Xfs

Exon 4

c.240delC

p.Asp80Xfs

Exon 4

c.241delA

p.Met81Xfs

Exon 5

Deletion of Exon 5

Protein truncation

Exon 5

c.252delC

p.Gly84Xfs

Exon 5

c.296delA

p.Asp99Xfs

Exon 5

c.319_320delGTinsCAG

p.Val107 deletion/ insertion

Exon 5

c.319_320delGTinsCAC

p.Val107 deletion/ insertion

Exon 5

c.323G > T (778G > T)

p.Ser108Ile

Exon 5

c.328C > T

p.Gln110^a

Exon 5

c.332_349del(18nucleotides)

p.His111_Gln116delXfs

Exon 5

c.340dupC

p.His114Xfs

Exon 5

c.347dupA

p.Leu117Xfs

Exon 5

c.376delG

p.Val126Xfs

Exon 5

c.394G > A

p.Glu132Lys

Exon 6

c.402delC

p.Pro135Xfs

Exon 6

c.404delC

p.Pro135Xfs

Exon 6

c.420delC

p.Ile141fs

Exon 6

c.427_429delTTC

p.Phe143del

Exon 6

c.443_459delACGGCTTTGTGTTCAGC

p.His148_153SerdelXfs

Exon 6

c.469_471delTTC

p.Phe157Xfs

Exon 6

c.499C > T

p.Gln167^a

Exon 6

c.510C > G

p.Tyr170^a

Exon 6

c.510C > A

p.Tyr170^a

Exon 6

c.553 T > C

p.Ser185Pro

Exon 6

c.563delT

p.Phe188Xfs

Exon 6

c.[564_565dupCC;566_577delTGCTGGGGAAGG]

p.Leu189Xfs

Exon 6

c.573_574delinsT

p.Lys192Xfs

Exon 6

c.581delG

p.Gly195Xfs

Exon 6

c.583G > T

p.Gly195^a

Exon 6

c.584delG

p.Gly195Xfs

Exon 6

c.601C > T

p.Gln201^a

Exon 6

c.610_611delinsTA

p.Ala204^a

Exon 7

c.632 633delAGinsC

p.Glu211Xfs

Exon 7

c.637delT

p.Phe213Xfs

Exon 7

c.649C > T

p.Gln217^a

Exon 7

c.655dupG

p.Ala219Xfs

Exon 7

c.658C > T

p.Gln220^a

Exon 7

c.668delA

p.Asn223Xfs

Exon 7

c.689dupT

p.Leu230Xfs

Exon 7

c.671_672delCA

p.Thr224Xfs

Exon 7

c.715C > T

p.Arg239Cys

Exon 7

c.726A > T

NS

Exon 7

c.769_771delTCC

p.Ser257Xfs

Exon 7

c.770_772delCCT

p.Ser257Xfs

Exon 7

c.747_756insGTGATGACAA

p.Asn249Xfs

Exon 7

c.779G > A

p.Trp260^a

Exons 7–14

c.675-?_c.^a +?del

Exon 8

∆E8

p.Trp260Xfs

Exon 8

c.836_839delCCGA

p.Thr279Xfs

Exon 8

c.853C > T

p.Gln285^a

Exon 9

c.887C > A

p.Ser296^a

Exon 9

c.889_890delGA

p.Glu297Xfs

Exon 9

c.890_893del

p.Glu297Xfs

Exon 9

c.923_950dup

Frameshift

Exon 9

c.932_933delCT

p.Pro311Xfs

Exon 9

c.933delT

p.Val312Xfs

Exon 9

c.943 G > T

p.Glu315^a

Exon 9

c.946_947delAG

p.Ser316Xfs

Exon 9

c.991_992dupTC

p.Leu332Xfs

Exon 9

c.997_998delTC

p.Ser333Xfs

Exon 9

c.997_998dupTC

p.Gly334Xfs

Exon 9

c.1013delG

p.Trp338Xfs

Exon 9

c.1015C > T

p.Gln339^a

Exon 9

c.1018delC

p.Arg341Xfs

Exon 9

c.1021delC

p.Arg341Xfs

Exons 9–14

c.872-?_c.1740 +? del

Protein truncation

Exon 10

c.1063 1065delGTC

p.Val355Xfs

Exon 10

c.1067 T > C

p.Leu356Pro

Exon 10

c.1076delC

p.Pro359Xfs

Exon 10

c.1095C > G

NS

Exon 10

c.1117C > T

p.Gln373^a

Exon 10

c.1127G > A

p.Trp376^a

Exon 10

c.1153 C > T

p.Gln385^a

Exon 10

c.1156_1175del

Frameshift

Exon 10

c.1156_1176del

Frameshift

Exon 10

c.1165G > T

p.Glu389^a

Exon 10–11

c.1063-154_1300 + 410dup

Exon 10 deletion

Exon 11

c.1183_1198del

Frameshift

Exon 11

c.1198G > A

p.Val400Ile

Exon 11

c.1215C > G

p.Tyr405^a

Exon 11

c.1219delA

p.Ser407Xfs

Exon 11

c.1228G > T

p.Glu410^a

Exon 11

c.1252delC

p.Leu418Xfs

Exon 11

c.1269C > T

NS

Exon 11

c.1278dupC

p.His429Xfs

Exon 11

c.1278delC

p.His429Xfs

Exon 11

c.1285dupC

p.His429Xfs

Exon 11

c.1285delC

p.His429Xfs

Exon 11

c.1285C > T

p.His429Tyr

Exon 11

c.1286dupA

p.His429Xfs

Exon 11

c.1294_1298delTCCTC

p.Ser432Xfs

Exon 11

c.1300G > A

Splice mutation

Exon 11

c.1300G > C

Splice mutation

Exon 12

c.1301-7_1304del;1323delCinsGA

Frameshift

Exon 12

c.1303delT

p.Phe435Xfs

Exon 12

c.1305delT

p.Phe435Xfs

Exon 12

c.1318 1334dup

Frameshift

Exon 12

c.1323delCinsGA

p.His442Xfs

Exon 12

c.1333G > A

p.Ala445Thr

Exon 12

c.1335_1351dup

Frameshift

Exon 12

c.1337 1343dup

Frameshift

Exon 12

c.1340 1346dup

Frameshift

Exon 12

c.1347_1353dupCCACCCT

Frameshift

Exon 12

c.1372dup (1827insC)

p.Gln458Xfs

Exon 12

c.1379_1380delTC

p.Leu460Xfs

Exon 12

c.1389C > G

p.Tyr463^a

Exon 12

c.1408_1418 insGGGAGCCCTGT

Frameshift

Exon 12

c.1426dupG

Frameshift

Exon 12

c.1429C > T

p.Arg477^a

Exon 12

CCACCCT insertion

Exon 13

c.1481A > G

p.Asn494Ser

Exon 13

c.1489_1490delGT

p.Val497Xfs

Exon 13

c.1490insCTGT

Frameshift

Exon 13

c.1522_1524del AAG

p.Lys508Xfs

Exon 13

c.1523A > G

p.Lys508Arg

Exon 13

c.1528_1530delGAG

p.Glu510Xfs

Exon 13

c.1533G > A

p.Trp511^a

Exon 13

c.1533_1536delGATG

p.Trp511^aXfs

Exon 14

c.1539-?_c.1740 +? del

Exon14 deletion

Exon 14

c.1552delC

p.Leu518Xfs

Exon 14

c.1557delT

p.Phe519Xfs

Exon 14

c.1579_1580insA

p.Arg527Xfs

Exon 14

c.1579C > T

p.Arg527^a

Exon 14

c.1597_1598delCA

p.Gln533Xfs

Exon 14

c.1645C > G

p.Leu549Val

Exon 14

c.1658G > A

p.Trp553^a

Exon 14

c.1677G > A

NS

Exon 14

c.1715 + 16insC(14–22)

Splice mutation

Exon 14

c.1715 + 582 T > C

Splice mutation

Intron1

c.-228 + 1368G > T

Splice mutation

Intron1

c.-229 + 994A > G

Splice mutation

Intron3

c.-25 + 100C > G

Splice mutation

Intron3

c.1-64A > G

Splice mutation

Intron 4

c.249 + 1G > T

Splice mutation

Intron 4

c.250-2A > G

Splice mutation

Intron 4

c.250-1G > A

Splice mutation

Intron 5

c.396 + 1G > A

Splice mutation

Intron 5

c.396 + 59 T > C

Splice mutation

Intron 5

c.397-14C > T

Splice mutation

Intron 5

c.397-13G > A

Splice mutation

Intron 5

c.397-13_397-4delGGCCCTCCAG

Splice mutation

Intron 5

c.397-10_397-2delGTCCCTCCA

Splice mutation

Intron 5

c.397-7_399delcctccagGTC

Splice mutation

Intron 5

c.397-2A > C

Splice mutation

Intron 5

c.397-1G > C

Splice mutation

Intron 5

c.397-7_399del

Splice mutation

Intron5-Exon6

cctccagGTCdeletion

Splice mutation

Intron6

c.618 + 2 T > A

Splice mutation

Intron6

c.619-66C > T

Splice mutation

Intron6

c.619-1G > A

Splice mutation

Intron 7

c.779 + 1G > T

Splice mutation

Intron 7

c.779 + 113C > T

Splice mutation

Intron 7

c.780-1G > T

Splice mutation

Intron8

c.871 + 3_871 + 4delGAinsTCCAGAT

Splice mutation

Intron8

c.871 + 13 T > C

Splice mutation

Intron8

c.871 + 16 T > A

Splice mutation

Intron8

c.871 + 36G > A

Splice mutation

Intron8

c.871 + 204A > G

Splice mutation

Intron8

c.871 + 226G > A

Splice mutation

Intron8

c.871 + 684G > A

Splice mutation

Intron 9

c.1062 + 1G > A

Splice mutation

Intron 9

c.1062 + 2 T > G

Splice mutation

Intron 9

c.1062 + 5G > A

Splice mutation

Intron 9

c.1062 + 6C > T

Splice mutation

Intron 9

c.1062 + 47G > A

Splice mutation

Intron 9

c.1063-172C > G

Splice mutation

Intron 9

c.1063-117C > T

Splice mutation

Intron9

c.1063-10_1065delTCTTGTTTAGGTC

Exon 10 skip

Intron 9

c.1063-2A > G

Splice mutation

Intron 10

c.1176 + 31G > A

Splice mutation

Intron 10

c.1176 + 39G > A

Splice mutation

Intron 10

c.1176 + 68G > C

Splice mutation

Intron 10

c.1176 + 134G > C

Splice mutation

Intron 10

c.1176 + 179A > G

Splice mutation

Intron 10

c.1177-165C > T

Splice mutation

Intron 10

c.1177-8_1177-6delTCC

Splice mutation

Intron 10

c.1177-5_1177-3delCTC

Splice mutation

Intron10

c.1177-2A > G

Splice mutation

Intron 11

c.1300 + 2 T > C

Splice mutation

Intron 11

c.1301-59C > T

Splice mutation

Intron 11

c.1301-7del11; 1323delCinsGA

Splice mutation

Intron 12

c.1432 + 1G > A

Splice mutation

Intron 12

c.1432 + 4 C > T

Splice mutation

Intron 12

c.1433-38A > G

Splice mutation

Intron 12

c.1433-1G > T

Splice mutation

Intron 13

c.1538 + 121C > T

Splice mutation