Sample ID | Subtype1 | CH3 | NF2 gene mutations | DNA copy number profiles 4 | Â | |||
---|---|---|---|---|---|---|---|---|
 |  |  | Position | Mutation2 | Assumed effect3 | Chromosome 22 | Chromosome 1 | Loss of non-22 genes5 |
M26 | A | Â | Ex 2 | 227_240del | Lys76fs | Monosomy | Monosomy | D1, S1A, S1B |
M71 | A | Â | Ex8 | 810+2T>C | Abn. Spl. | Monosomy | 1p, 120.8 Mb TD | D1, P2A, S1A, S1B |
M38 | A | Â | Ex6 | 573del; 575_581del | Trp191fs | Monosomy | 1p 107.9 Mb TD | P1B, P2A, S1A, S1B |
M43 | A | Â | Ex12 | 1185del | Lys396fs | Monosomy | 1p 120.3 Mb TD, 4.4 Mb A | Â |
M46 | A | Â | Ex8 | 810+2T>C | Abn. Spl. | NAD | NAD | Â |
M33 | A | Â | Â | NAD | Â | 30.6 Mb TD [AC009516-AC002055] | 1p, 90.2 Mb TD, 45.8 Mb ID | Â |
M9 | A | Â | Â | NAD | Â | NAD | NAD | Â |
M20 | A | Â | Â | NAD | Â | NAD | NAD | Â |
M13 | F | Â | Ex 2 | 240+2T>C | Abn. Spl. | Monosomy | 1p, 142.9 Mb TD | P2A, S1A, S1B |
M88 | F | Â | Ex4 | 364-1G>A | Abn. Spl. | Monosomy | 1p 84.1 Mb TD; 1q 4.6, 7.1 Mb IDs, 12.5 Mb TD | P2A |
M3 | F | Â | Ex 2 | 240+2T>C | Abn. Spl. | Monosomy | 1p 119.8 Mb TD | Â |
M14 | F | Â | Ex3 | 249del | His84fs | Monosomy | 1p 120.2 Mb TD | Â |
M15 | F | Â | Ex8 | 683del | Lys228fs | Monosomy | 1p 116.0 Mb TD | Â |
M39 | F | Â | Ex8 | 810+1G>A | Abn. Spl. | Monosomy | NS | Â |
M42 | F | Â | Ex10 | 995del | Lys332fs | Monosomy | NS | Â |
M70 | F | Â | Ex6 | 599+1G>A | Abn. Spl. | Monosomy | NS | Â |
M91 | F | Â | Ex 2 | 154del | Arg52fs | Monosomy | NS | Â |
M102 | F | Â | Ex9 | 865A>T | Lys289X | Monosomy | NS | Â |
M115 | F | Â | Ex7 | 634C>T | Gln212X | NAD | 1p 119.6 Mb TD | Â |
M646 | F | Â | Â | NAD | Â | 30.4 Mb TD [AC008079-AC002055], NF2 biallelic del [AC005529] | 1p 98.8 Mb ID; 1q 24.2 Mb ID | P1B, P2A |
M66 | F | Â | Â | NAD | Â | Monosomy | 1p 118.1 Mb TD | P2A |
M117 | F | Â | Â | NAD | Â | 0.55, 2.8, 4.5 Mb IDs [U07000-AP00034, AC005004-Z69907, AL022311-Z83851]; 5.9 Mb TD [Z93244-AC002055] | 1p 116.8 Mb TD, 3.6 Mb A | Â |
M32 | F | Â | Â | NAD | Â | 5.3 Mb ID [AL022329-AL022336], 15.2 Mb TD [AL009049-AC002055] | NS | D1 |
M4 | F | Â | Â | NAD | Â | Monosomy | NAD | Â |
M29 | F | Â | Â | NAD | Â | Monosomy | NS | Â |
M41 | F | Â | Â | NAD | Â | Monosomy | NS | Â |
M92 | F | Â | Â | NAD | Â | Monosomy | NS | Â |
M114 | F | Â | Â | NAD | Â | 18.0 Mb ID [AP000525-Z68324] | NS | Â |
M119 | F | Â | Â | NAD | Â | NAD | NS | Â |
M10 | M | Â | Ex13 | 1341-2A>G | Abn. Spl. | Monosomy | 1p 120.3 Mb TD | P2A |
M23 | M | Â | Ex3 | 241-2A>C | Abn. Spl. | Monosomy | 1p 120.9 Mb TD | P2A |
M67 | M | Â | Ex4 | 432C>A | Tyr144X | Monosomy | 1p 120.8 Mb TD | P2A |
M98 | M | Â | Ex14 | 1519_1520del | Phe507fs | Monosomy | NAD | D1, P2A, S1A, S1B |
M57 | M | Â | Ex 2 | 133_144 del | Asp45fs | Monosomy | NS | Â |
M72 | M | Â | Ex7 | 634C>T | Gln212X | Monosomy | NS | Â |
M40 | M | Â | Â | NAD | Â | Monosomy | 1p 164.9 Mb TD | P1B, P2A |
M76 | M | Â | Â | NAD | Â | Monosomy | 1p 142.7 Mb TD | P2A |
M105 | M | Â | Â | NAD | Â | Monosomy | 1p 116.3 Mb TD | P1B, P2A |
M348 | M | Â | Â | NAD | Â | 20.0 Mb TD [AC004542-AC002055] | 1p 102.8 Mb ID | Â |
M44 | M | Â | Â | NAD | Â | Monosomy | 1p 85.4 Mb TD | Â |
M101 | M | Â | Â | NAD | Â | 25.1 Mb ID [AP000525-AL035450], 7.9 Mb TD [AL049758-AC002055] | Monosomy, 1p 2.1 Mb R | Â |
M30 | M | Â | Â | NAD | Â | Monosomy | NAD | D1, P2A |
M112 | M | Â | Â | NAD | Â | NAD | 1p 114.2 Mb TD | Â |
M2 | M | Â | Â | NAD | Â | NAD | NAD | Â |
M5 | M | Â | Â | NAD | Â | NAD | NAD | Â |
M77 | M | Â | Â | NAD | Â | NAD | NAD | Â |
M82 | M | Â | Â | NAD | Â | NAD | NAD | Â |
M45 | M | Â | Â | NAD | Â | NAD | NS | Â |
M51 | M | Â | Â | NAD | Â | NAD | NS | Â |
M54 | M | Â | Â | NAD | Â | NAD | NS | Â |
M61 | M | Â | Â | NAD | Â | NAD | NS | Â |
M63 | M | Â | Â | NAD | Â | NAD | NS | Â |
M65 | M | Â | Â | NAD | Â | NAD | NS | Â |
M69 | M | Â | Â | NAD | Â | NAD | NS | Â |
M86 | M | Â | Â | NAD | Â | NAD | NS | Â |
M95 | M | Â | Â | NAD | Â | NAD | NS | Â |
M99 | M | Â | Â | NAD | Â | NAD | NS | Â |
M107 | M | Â | Â | NAD | Â | NAD | NS | Â |
M108 | M | Â | Â | NAD | Â | NAD | NS | Â |
M111 | M | Â | Â | NAD | Â | NAD | NS | Â |
M116 | M | Â | Â | NAD | Â | NAD | NS | Â |
M120 | M | Â | Â | NAD | Â | NAD | NS | Â |
M93 | P | Â | Ex8 | 810G>T | Glu270Asp | Monosomy | 1p 114.3 Mb ID | P2A |
M229 | P | Â | Ex13, inter1 | 1390del; 28309611 C>A | Ala464fs, unknown | Monosomy | NS | Â |
M62 | P | Â | Â | NAD | Â | Monosomy | NS | Â |
M21 | P | Â | Â | NAD | Â | NAD | NS | Â |
M60 | T | Â | Ex14 | 1519_1528del | Phe507fs | Monosomy | 1p 118.2 Mb TD | P2A |
M1 | T | Â | Ex7 | 650del | Tyr217X | Monosomy | 1p 65.0 Mb TD | Â |
M31 | T | Â | Ex13 | 1325del | Ala451fs | Monosomy | 1p 53.2, 36.3 Mb IDs | Â |
M58 | T | Â | Ex 2 | 115-3G>C | Abn. Spl. | 30.1 Mb TD [AC007050-AC002055] | 1p 120.2 Mb TD | Â |
M90 | T | Â | Ex3 | 241-2A>G | Abn. Spl. | 20.1Mb ID [AP000525-AL079295], 13.4 Mb TD [AL049850-AC002055] | 1p 83.3 Mb TD | Â |
M96 | T | Â | Ex12 | 1175G>T | Glu392X | 2.0 Mb ID [AP000525-AC007666], 5.4 Mb A [AC006285-AC000102], 27.5 Mb TD [U07000-AC002055] | 1p 43.3 Mb TD, 1q 69.9 Mb TD | Â |
M52 | T | Â | Ex4 | 431_432insAA | Tyr144X | Monosomy | NS | P1B |
M113 | T | Â | Ex4 | 377del | Leu127X | Monosomy | NAD | D1, P1B, P2A, S1A, S1B |
M18 | T | Â | Ex12 | 1198C>T | Gln400X | Monosomy | NS | Â |
M37 | T | Â | Ex8 | 745_755del | Arg249fs | Monosomy | NS | Â |
M48 | T | Â | Ex 1 | 36_37del | Leu14fs | Monosomy | NS | Â |
M75 | T | Â | Ex8 | 750del | Thr251fs | Monosomy | NS | Â |
M87 | T | Â | Ex4 | 436G>A | Val146Ile | NAD | NS | Â |
M56 | T | Â | Â | NAD | Â | Monosomy | 1p 116.5 Mb TD | P2A |
M85 | T | Â | Â | NAD | Â | Monosomy | 1p 108.2 Mb TD | P2A |
M109 | T | Â | Â | NAD | Â | 5.7 Mb A [AC006548-AC007957], 30.6 Mb TD [AC009516-AC002055] | 1p 120.2 Mb TD | Â |
M27 | T | Â | Â | NAD | Â | 15.5Mb ID [AP000525-AC005005], 14.1 Mb TD [AL049749-AC002055] | NS | Â |
M59 | T | Â | Â | NAD | Â | Monosomy | NS | Â |
M68 | T | Â | Â | NAD | Â | Monosomy | NS | Â |
M94 | T | Â | Â | NAD | Â | Monosomy | NS | Â |
M97 | T | Â | Â | NAD | Â | Monosomy | NS | Â |
M25 | T | Â | Â | NAD | Â | NAD | 1p 98.7 Mb TD | Â |
M117 | T | Â | Â | NAD | Â | NAD | 1p 36.1 Mb TD | Â |
M10410 | T | + | Â | NAD | Â | NAD | NS | Â |
M8 | T | Â | Â | NAD | Â | NAD | NS | Â |
M12 | T | Â | Â | NAD | Â | NAD | NS | Â |
M17 | T | Â | Â | NAD | Â | NAD | NS | Â |
M35 | T | Â | Â | NAD | Â | NAD | NS | Â |
M55 | T | Â | Â | NAD | Â | NAD | NS | Â |
M89 | T | Â | Â | NAD | Â | NAD | NS | Â |
M103 | T | Â | Â | NAD | Â | NAD | NS | Â |
M78 | U | Â | Ex10 | 999+1G>T | Abn. Spl. | Monosomy | 1p 3.8 Mb TD | Â |
M79 | U | Â | Â | NAD | Â | NAD | 1p 39.1Mb ID, 1q 41.3Mb TD | Â |
M83 | U | Â | Â | NAD | Â | NAD | NS | Â |