Double heterozygous patients with FHL
| Patient ID . | Age at diagnosis, y . | PRF1 . | MUNC13-4 . | STXBP2 . | STX11 . | RAB27A . |
|---|---|---|---|---|---|---|
| P1 | 0.25 | c.1310 C>T (p.A437V) | c.169 G>T (p.E57X) | ND | ND | ND |
| P2 | 0.75 | c.272 C>T (p.A91V) | c.2709+6 G>T | ND | ND | ND |
| P3 | 0.92 | c.992 C>T (p.S331L) | c.1232 G>A (p.R411Q) | NMI | NMI | NMI |
| P4 | 2.25 | c.272 C>T (p.A91V) | c.227 C>T (p.T76M) | ND | ND | ND |
| P5 | 3 | c.272 C>T (p.A91V) | c.869 C>T (p.S290L) | ND | ND | ND |
| P6 | 3 | c.272 C>T (p.A91V) | c.2243 C>T (p.A748V) | ND | NMI | ND |
| P7 | 5 | c.1229 G>A (p.R410Q) | c.1036 G>A (p.D346N) | ND | NMI | NMI |
| P8 | 8 | c.272 C>T (p.A91V) | p.3160 A>G (p.I1054V) | ND | ND | ND |
| P9 | 9 | c.10 C>T (p.R4C) | c.3232 G>C (p.A1078P) | NMI | NMI | ND |
| P10 | 9 | c.272 C>T (p.A91V) | c.2896 C>T (p.R966W) | NMI | ND | ND |
| P11 | 10 | c.272 C>T (p.A91V) | c.2896 C>T (p.R966W) | NMI | NMI | NMI |
| P12 | 12 | c.50 delT | c.1579 C>T (p.R527W) | NMI | NMI | NMI |
| P13 | 13 | c.445 G>A | c.2896 C>T (p.R966W) | ND | ND | ND |
| P14 | 13 | c.272 C>T (p.A91V) | c.2896 C>T (p.R966W) | NMI | NMI | NMI |
| P15 | 28 | c.272 C>T (p.A91V) | c.182 A>G (p.Y61C) | NMI | NMI | NMI |
| P16 | 5 | c.272 C>T (p.A91V) | NMI | c.1034 C>T (p.T345M) | NMI | NMI |
| P17 | 10 | c.272 C>T (p.A91V) | ND | c.1034 C>T (p.T345M) | ND | ND |
| P18 | 16 | 655 T>A (Y219N) | NMI | c.1034 C>T (p.T345M) | NMI | ND |
| P19 | 21 | c.272 C>T (p.A91V) | NMI | c.1586 G>C (p.R529P) | NMI | NMI |
| P20 | 24 | c.50 delT | NMI | c.1459 G>A (p.V487M) | NMI | NMI |
| P21 | 24 | c.272 C>T (p.A91V) | NMI | c.795−4 C>T | NMI | NMI |
| P22 | 0.167 | NMI | c.2896 C>T (p.R966W) | c.911 C>T (p.T304M) | NMI | NMI |
| P23 | 0.417 | NMI | c.1389+1 G>A | c.1782*12 G>A | NMI | ND |
| P24 | 0.667 | NMI | c.2828 A>G (p.N943S) | c.1782*12 G>A | NMI | ND |
| P25 | 1 | NMI | c.2828 A>G (p.N943S) | c.715 C>T (p.P239S) | NMI | NMI |
| P26 | 0.167 | NMI | c.2030 T>C (p.I677T) | NMI | c.221 C>T (p.T74M) | ND |
| P27 | 14 | NMI | NMI | c.568 C>T (p.R190C) | c.9 C>A (p.D3E) | NMI |
| P28 | 5 | NMI | NMI | c.1034 C>T (p.T345M) | NMI | c.295 T>G (p.F99V) |
| Patient ID . | Age at diagnosis, y . | PRF1 . | MUNC13-4 . | STXBP2 . | STX11 . | RAB27A . |
|---|---|---|---|---|---|---|
| P1 | 0.25 | c.1310 C>T (p.A437V) | c.169 G>T (p.E57X) | ND | ND | ND |
| P2 | 0.75 | c.272 C>T (p.A91V) | c.2709+6 G>T | ND | ND | ND |
| P3 | 0.92 | c.992 C>T (p.S331L) | c.1232 G>A (p.R411Q) | NMI | NMI | NMI |
| P4 | 2.25 | c.272 C>T (p.A91V) | c.227 C>T (p.T76M) | ND | ND | ND |
| P5 | 3 | c.272 C>T (p.A91V) | c.869 C>T (p.S290L) | ND | ND | ND |
| P6 | 3 | c.272 C>T (p.A91V) | c.2243 C>T (p.A748V) | ND | NMI | ND |
| P7 | 5 | c.1229 G>A (p.R410Q) | c.1036 G>A (p.D346N) | ND | NMI | NMI |
| P8 | 8 | c.272 C>T (p.A91V) | p.3160 A>G (p.I1054V) | ND | ND | ND |
| P9 | 9 | c.10 C>T (p.R4C) | c.3232 G>C (p.A1078P) | NMI | NMI | ND |
| P10 | 9 | c.272 C>T (p.A91V) | c.2896 C>T (p.R966W) | NMI | ND | ND |
| P11 | 10 | c.272 C>T (p.A91V) | c.2896 C>T (p.R966W) | NMI | NMI | NMI |
| P12 | 12 | c.50 delT | c.1579 C>T (p.R527W) | NMI | NMI | NMI |
| P13 | 13 | c.445 G>A | c.2896 C>T (p.R966W) | ND | ND | ND |
| P14 | 13 | c.272 C>T (p.A91V) | c.2896 C>T (p.R966W) | NMI | NMI | NMI |
| P15 | 28 | c.272 C>T (p.A91V) | c.182 A>G (p.Y61C) | NMI | NMI | NMI |
| P16 | 5 | c.272 C>T (p.A91V) | NMI | c.1034 C>T (p.T345M) | NMI | NMI |
| P17 | 10 | c.272 C>T (p.A91V) | ND | c.1034 C>T (p.T345M) | ND | ND |
| P18 | 16 | 655 T>A (Y219N) | NMI | c.1034 C>T (p.T345M) | NMI | ND |
| P19 | 21 | c.272 C>T (p.A91V) | NMI | c.1586 G>C (p.R529P) | NMI | NMI |
| P20 | 24 | c.50 delT | NMI | c.1459 G>A (p.V487M) | NMI | NMI |
| P21 | 24 | c.272 C>T (p.A91V) | NMI | c.795−4 C>T | NMI | NMI |
| P22 | 0.167 | NMI | c.2896 C>T (p.R966W) | c.911 C>T (p.T304M) | NMI | NMI |
| P23 | 0.417 | NMI | c.1389+1 G>A | c.1782*12 G>A | NMI | ND |
| P24 | 0.667 | NMI | c.2828 A>G (p.N943S) | c.1782*12 G>A | NMI | ND |
| P25 | 1 | NMI | c.2828 A>G (p.N943S) | c.715 C>T (p.P239S) | NMI | NMI |
| P26 | 0.167 | NMI | c.2030 T>C (p.I677T) | NMI | c.221 C>T (p.T74M) | ND |
| P27 | 14 | NMI | NMI | c.568 C>T (p.R190C) | c.9 C>A (p.D3E) | NMI |
| P28 | 5 | NMI | NMI | c.1034 C>T (p.T345M) | NMI | c.295 T>G (p.F99V) |
ND, not done; NMI, no mutation identified.
Denotes the variant is located at the 3'UTR of the gene.