No. Clinical Symptoms NF1 Gene Variation Loci (Variation Frequency%) Somatic/Germline Validation
ALL-1 CALM, scoliosis, intracranial involvement exon3: c.247C>T(p.Q83*)(70.2%) Germline
ALL-2 CALM, xanthogranuloma, intracranial involvement exon38(c.5749+5G>A) Germline
ALL-3 CALM, scoliosis, intracranial involvement exon44:c.6733C>T:p.Q2245X(36.8%) Somatic
ALL-4 No exon28:c.3827 G>A:p.R1276Q(3.6%) Somatic
ALL-5 No exon2:c.128_147delinsAACGG:p.L43_Y49delinsQR(4.8%) c.205-10_231delinsGACGGCCAGGCCAG (7.6%) exon18:c.2033dup:p.I679fs*21 (8.2%) Somatic
ALL-6 No exon18:c.2206_2208delinsGCCACTCCTGGGG:p.N736fs*35(27.1%) exon41:c.6206_6207insTGGGACGCATG:p.N2070fs*24(28.0%) Somatic
ALL-7 CALM exon20:c.2334_2336dup:p.E778dup (82.8%) Somatic
ALL-8 No exon10:c.1074dup:p.N359X (8.8%) Somatic
ALL-9 No exon41:c.6185G>A:p.R2062H (13.1%) Somatic
ALL-10 No exon12:c.1391C>T:p.P464L (8.9%) exon34:c.4537C>T:p.R1513X (71.9%) Somatic
ALL-11 No exon17:c.1996_1997insAGGCTACC:p.S666X (17.3%) Somatic
ALL-12 No exon48:c.7153_7154insGGCCTG:p.I2384_V2385insGP(2%) Somatic
AML-1 No c.2033C>T(35.9%) Germline
AML-2 CALM c.1933A>G(47.7%) Germline
AML-3 No c.888+5G>A(51.99%) Germline
AML-4 No c.6007-1G>C(1.9%) c.6855C>A p.Tyr2285Ter(1.8%) Somatic
AML-5 No c.6927_6941delinsCCCAGA(30%) Somatic
AML-6 No c.3168_3169ins(16.7%) Somatic
AML-7 No c.2033dup(21.4%) Somatic
AML-8 No c.4676G>A(87.7%) Somatic
AML-9 No exon18:c.2033dupC:p.I679fs*21 (78.9%) Somatic
AML-10 No c.1885G>A(35.12%) Somatic
AML-11 CALM, freckles c.910C>T(39.2%) Somatic
AML-12 No c.5902C>T(37.84%) Somatic
AML-13 No c.654+44A>C(50.65%) Somatic
AML-14 No c.730+48A>G(54.66%) Somatic
AML-15 No c.6921+40A>G(54.08%) Somatic
APL-1 No c.6427+10A>G(50.3%) Germline