WASP mutations in 262 patients from 227 families
Patient . | Origin . | Age, y . | Score . | Exon . | Mutation type . | gDNA mutation . | cDNA mutation (if different from gDNA) . | Predicted protein change . | Western blot . |
|---|---|---|---|---|---|---|---|---|---|
| 1-S | US | 18 | 3 | 1 | Insertion | 41 insA | —†† | fs stop aa 37 | Absent |
| 2-B | Sweden | 6 (dec.) | 4 | 1 | Insertion | 41 insG | — | fs stop aa 37 | ND |
| 3-S | US | 4 | 5 | 1 | Deletion | 56-57delG | — | fs stop aa 44 | Absent |
| 4*-S | US | ? | 3 | 1 | Insertion | 62-64insC | — | fs stop aa 37 | Absent |
| 5-S | US | 0.2 | 3 | 1 | Insertion | 65-69insG | — | fs stop aa 37 | ND |
| 6*-S | US | 5.0 (dec.) | 5 | 1 | Nonsense | 71C>T | — | R13X | Absent |
| 7a*/b-S | US | 1.9/<2 | 4/3** | 1 | Nonsense | 71C>T | — | R13X | Absent |
| 8-B | Italy | 1.6 (dec.) | 4 | 1 | Nonsense | 71C>T | — | R13X | ND |
| 9-B | Italy | 8 | 4 | 1 | Nonsense | 74G>T | — | G14X | ND |
| 10-S | US | 5 | 3-4 | 1 | Missense | 104T>C | — | S24P | Reduced |
| 11-S | Thailand | 12 | 2 | 1 | Missense | 105C>T | ND | S24F | ND |
| 12§-B | Italy | 1.9 (dec.) | 5 | 1 | Deletion | 115-116delC | — | fs stop aa 44 | Absent |
| 13*-S | US | 12 | 2 | 1 | Missense | 113C>T | — | L27F | Reduced |
| 14-S | US | 7.5 | 3-4 | 1 | Deletion | 122-124del | — | Inframe | ND |
| 15-S | US | 1 | 1 | 1 | Missense | 125G>A | — | E31K | Absent |
| 16-S | Canada | 2 | 2 | 1 | Missense | 125G>A | — | E31K | Reduced |
| 17-B | Italy | 7 | 2-3 | 1 | Missense | 125G>A | — | E31K | Absent |
| 18-S | Chile | 0.3 | 1 | 1 | Missense | 125G>A | — | E31K | Reduced |
| 19-S | US | 0.4 | ND | 1 | Missense | 125G>A | — | E31K | Absent |
| 20-S | US | 0.5 | 1 | 1 | Nonsense | 134C>T | — | R34X | ND |
| 21-S | US | 1.1 | 3 | 1 | Nonsense | ND | 134C>T | R34X | Absent |
| 22—S | US | 0.2 | 5 | 1 | Nonsense | 134C>T | — | R34X | Absent |
| 23-B | Turkey | 5 | 2 | 1 | Missense | 138T>A | — | L35H | ND |
| 24*-S | US | 2.1 | 5 | 1 | Missense | 138,139TC>AT | — | L35H | Reduced |
| 25-S | Greece | 0.3 | 1 | 1 | Deletion | 140-142delTT | — | fs stop aa 36 | Absent |
| 26*-S | US | 4 | 4 | 1 | Deletion | 140-142delTT | — | fs stop aa 36 | Absent |
| 27-B | Italy | 2.3 (dec) | 5 | 1 | Deletion | 140-142delTT | — | fs stop aa 36 | ND |
| 28-S | US | 0.4 | ND | 1 | Insertion | 140-142insT | — | fs stop aa 37 | Absent |
| 29*-S | US | 8 | 2 | 1 | Missense | 150T>C | — | L39P | Reduced |
| 30a*/b*-S | US | 16/10 | 2/2 | 1 | Missense | 150T>C | — | L39P | Reduced |
| 31 a/b-B | Italy | 14/11 | 2/2-3 | 1 | Missense | 150T>C | — | L39P | Reduced |
| 32§-B | Italy | 6 (dec.) | 5 | 1 | Nonsense | 155C>T | — | R41X | Absent |
| 33§-B | Italy | 0.7 (dec.) | 5 | 1 | Nonsense | 155C>T | — | R41X | ND |
| 34-B | Italy | 9 | 4 | 1 | Nonsense | 155C>T | — | R41X | ND |
| 35-S | US | 0.2 | 2 | 1 | Nonsense | 155C>T | — | R41X | Absent |
| 36-S | US | 8 | 2 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 37-S | US | 0.3 | 1-2 | 2 | Missense | 168C>T | — | T45M | Absent |
| 38a*/b*-S | Canada | 8/2 | 2/2 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 39*-S | US | 8 | 1 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 40-S | US | ? | ND | 2 | Missense | 168C>T | — | T45M | Reduced |
| 41-B | Croatia | 6 | 2 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 42-S | US | 2.5 | 1 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 43*-S | Polynesia | 8 | 2 | 2 | Missense | 174C>A | — | A47D | Reduced |
| 44*-S | US | 22 | 2 | 2 | Missense | 177C>T | — | T48I | Reduced |
| 45-S | US | 6 | 4 | 2 | Deletion | 186-196del | — | fs stop aa 58 | Absent |
| 46-S | US | 9 | 1 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 47-S | US | 2.7 | 1 | 2 | Missense | 201C>T | — | A56V | ND |
| 48*-S | US | ? | 1 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 49-B | Italy | 16 | 1 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 50a/b-S | US | 75/3 | 1/2 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 51-S | US | 1 | ND | 2 | Deletion | 201-213del | — | fs stop aa 71 | ND |
| 52-S | US | ? | 2 | 2 | Missense | 206C>G | — | P58A | Reduced |
| 53a/b/c∥-B | Italy | 9/7/32 | 0.5/0.5/0.5 | 2 | Missense | 207C>G | — | P58R | Normal |
| 54*-S | Canada | 5 (dec.) | 5 | 2 | Deletion | 206-210delC | — | fs stop aa 75 | ND |
| 55a*/b*-S | US | 5/20 | 5/5 | 2 | Deletion | 211 delT | — | fs stop aa 75 | Absent |
| 56-B | Nicaragua | 1.5 | 4 | 2 | Complex (2 populations) | 211 delT | — | fs stop aa 75 | ND |
| 211T>C | P59P | ||||||||
| 57-B | Italy | 12 (dec.) | 4 | 2 | Missense | 224T>C | — | W64R | ND |
| 58-S | US | 13 (dec.) | 5 | 2 | Deletion | del 237-46 | — | fs stop aa 72 | Absent |
| 59-S | US | 1.2 | 2-3 | 2 | Missense | 252G>A | — | C73Y | Reduced |
| 60-B | Italy | 8 | 3 | 2 | Missense | 252G>A | — | C73Y | ND |
| 61-B | Russia | 1.8 | 2-3 | 2 | Missense | 255T>C | — | F74S | ND |
| 62-S | India | 5 | 2 | 2 | Missense | 257G>A | — | V75M | Reduced |
| 63a*/b*/c*-S | US | 5/4/17 | 2/2/2 | 2 | Missense | 257G>A | — | V75M | Reduced |
| 64a/b-B | Italy | 15/24 | 1/2 | 2 | Missense | 257G>A | — | V75M | Reduced |
| 65-S | US | 3 | 1 | 2 | Missense | 257G>A | — | V75M | Normal |
| 68-S | US | 6 | 2 | 2 | Missense | 261A>C | — | K76T | ND |
| 69-B | Italy | 9 | 2 | 2 | Missense | 263G>C | — | D77H | Reduced |
| 70a/b-B | Italy | 7/3 | 2/1 | 2 | Missense | 264A>G | — | D77G | Reduced |
| 71-S | US | 1 | 2 | 2 | Missense | 278T>C | — | S82P | Reduced |
| 72-B | Serbia | 9 | 5 | 2 | Deletion | 279-280delC | — | fs stop aa 126 | ND |
| 73a/b-B | New Zealand | 14/9 | 2/2 | 2 | Missense | 290C>A | — | R86S | ND |
| 74-S | US | 11 | 2 | 2 | Missense | 290C>G | — | R86G | Reduced |
| 75-S | US, African American | 19 | 2 | 2 | Missense | 290C>T | — | R86C | Absent |
| 76-S | US | 9 | 2-3 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 77-S | US | 4 | 2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 78-S | US | 5 | 2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 79a*/b*-S | US | ? | 2/2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 80*-S | US | ? | 1 | 2 | Missense | 290C>T | — | R86C | ND |
| 81-B | Israel | 8 | 1 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 82-S | US | 2 | 2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 83-B | Turkey | 13 | 2 | 2 | Missense | 290C>T | — | R86C | ND |
| 84-S | Malaysia | 6 | 1 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 85-S | US | 15 | 1-2 | 2 | Missense | 291G>A | — | R86H | Absent |
| 86*-S | US | 10 | 2 | 2 | Missense | 291G>A | — | R86H | Reduced |
| 87-S | US | 0.5 | 2-3** | 2 | Missense | 291G>A | — | R86H | Reduced |
| 88-B | Russia | 17.5 | 3 | 2 | Missense | 291G>A | — | R86H | Reduced |
| 89-S | US | 5.5 | 2 | 2 | Missense | 291G>T | — | R86L | Absent |
| 90*-S | Hungary | 3.5 | 4 | 3 | Deletion | 312-313delGT | ND | ND | ND |
| 91-S | US | 5 | 5 | 3 | Nonsense | 325G>A | — | W97X | Absent |
| 92-S | US | 1.3 | 5 | 3 | Nonsense | 325G>A | — | W97X | Absent |
| 93-S | US | 1.5 | 4 | 3 | Nonsense | 329C>T | ND | Q99X | Absent |
| 94*-S | US | ? | 5 | 3 | Complex | 329C>T | 329C>T/exon3del | Q99X/inframe Exon3del | Absent |
| 95-B | Finland | 2.5 | 1-2 | 3 | Missense | 334G>T | — | E100D | ND |
| 96-B | Italy | 5 | 2 | 3 | Missense | 348T>C | — | L105P | Reduced |
| 97*-S | US | <2 | 2** | 3 | Missense | 354A>G | — | Y107C | Reduced |
| 98-S | US | <2 | 2** | 3 | Deletion | 360-364delC | — | fs stop aa 126 | Absent |
| 99-S | US | 0.5 | 4 | 3 | Deletion | 360-364delC | — | fs stop aa 126 | Absent |
| 100-B | Italy | 7 | 4 | 3 | Insertion | 360-364insC | — | fs stop aa 121 | Absent |
| 101-S | US | ? | 2 | 3 | Insertion | 360-364insC | — | fs stop aa 121 | ND |
| 102-S | US | 2.1 | 5 | 3 | Deletion | 366-370delC | — | fs stop aa 126 | Absent |
| 103-S | US | 0.3 | 5 | 3 | Deletion | 371-372delT | — | fs stop aa 126 | Absent |
| 104-S | US | 0.9 | 1-2 | 3 | Missense | 390G>A | — | G119E | Reduced |
| 105a/b-S | Malaysia | 4/0.2 | 4/1 | 4 | Nonsense | 400C>A | Multiple products | C122X | Absent |
| 106*-S | ? | 5 | 4 | Missense | 407G>A | — | G125R | Absent | |
| 107-S | Greece | 1 | 5 | 4 | Missense | 411T>C | — | L126P | ND |
| 108-S | US | 0.3 | 5 | 4 | Missense | 416T>C | — | F128L | Absent |
| 109-S | US | ? | 5 | 4 | Missense | 416T>C | — | F128L | ND |
| 110*-S | US | 9 | 4 | 4 | Missense | 417T>C | — | F128S | ND |
| 111*-S | US | 8 | 3 | 4 | Complex | 425G>A,431G>A | — | E131K, E133K | Absent |
| 112a*/b*-S | US | 14 (dec.)/3 | 5/4 | 4 | Complex | 425G>A,290C>T | — | E131K,R86C | Absent |
| 113-S | Chile | 2 | 3 | 4 | Missense | 431G>A | — | E133K | ND |
| 114-B | Italy | 3.5 (dec.) | 5 | 4 | Missense | 431G>A | — | E133K | ND |
| 115-S | US | 12 | 2 | 4 | Missense | 433G>T | — | E133D | Reduced |
| 116-S | US | 0.7 | 1 | 4 | Missense | 433G>T | — | E133D | Reduced |
| 117*-S | US | 15 | 4 | 4 | Missense | 435C>T | — | A134V | Reduced |
| 118-S | US | 17 | 2 | 4 | Insertion | C435 ins 6bp | — | 134 DE ins | ND |
| 119-S | US | 2 | 2 | 4 | Complex | 447G>A, IVS11-1g>a | 447G>A, exon 11del | R149Q fs stop aa 543 | Reduced |
| 120-B | Italy | 3.5 (dec.) | 4 | 4 | Deletion | 451-458del | — | fs stop aa 165 | ND |
| 121-B | Italy | 13 (dec.) | 4 | 4 | Insertion | 471-476insA | ND | fs stop aa 168 | ND |
| 122#-S | US | 13 | 2 | 4 | Insertion | 471-476insA | — | fs stop aa 168 | Absent |
| 123-B | Italy | 6 (dec.) | 5 | 4 | Deletion | 485-486delAG | — | fs stop aa 167 | Absent |
| 124a/b‡-B | Serbia | 17/21 | 5/5 | 5 | Insertion | 512-516insC | — | fs stop aa 168 | ND |
| 125-S | US | 4 | 5 | 5 | Insertion | 512-516insC | — | fs stop aa 168 | Absent |
| 126-B | Italy | 22 | 5 | 6 | Deletion | 570delT | — | fs stop aa 260 | ND |
| 127-S | US | ? | 2 | 6 | Deletion | 597-597delC | ND | fs stop aa 260 | ND |
| 128-B | Italy | 3 | 4 | 7 | Deletion | 644delA | — | fs stop aa 260 | Absent |
| 129-S | US | 0.5 (dec.) | 2-3** | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 130a/b-S | US | 1.5/0.8 | 4/3 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 131-S | US | 1 | 5 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 132-S | US | ? | 3-4 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 133-S | US Latino | <2 | 2** | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 134*-S | US | 14 | 4 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 135*-S | US | 11 | 4 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 136-B | Italy | 5 | 4 | 7 | Nonsense | 665C>T | — | R211X | ND |
| 137-B | Italy | 6 | 4 | 7 | Nonsense | 665C>T | — | R211X | ND |
| 138-B | Italy | 2.1 (dec.) | 4 | 7 | Nonsense | 665C>T | — | R211X | ND |
| 139*-S | US | 1.9 | 4 | 7 | Splice | 705A>G | 705-768 del | fs stop aa 239 | Absent |
| 140-S | US | >5 | 5 | 7 | Splice | 705A>G | 705-768 del | fs stop aa 239 | Absent |
| 141-B | Sweden | <2 | 2** | 7 | Nonsense | 717C>G | — | S228X | ND |
| 142-S | US | 4 | 3-4 | 7 | Deletion | 731delA | — | fs stop aa 260 | Absent |
| 143‡B | Italy | 15 | 1 | 7 | Missense | 741C>G | — | A236G | Reduced |
| 144-S | US | 0.7 | ND | 7 | Complex | Exon 7(−5 to IVS7 +22) (del 27 bp) | 764-768 del. IVS7 +22 to 71 (ins 49 bp) | fs stop aa 257 | Absent |
| 145§-B | England | 4 (dec.) | 5 | 9 | Nonsense | 887G>T | — | E285X | ND |
| 146-B | Italy | 10 | 2 | 9 | Deletion | 907delC | — | fs stop aa 291 | ND |
| 147*-S | US | 2.5 | 5 | 9 | Nonsense | 923C>T | — | Q297X | Absent |
| 148-S | Turkey | 1.2 | 3 | 9 | Nonsense | 950G>T | — | E306X | Reduced |
| 149a*/b*†-S | US | ?/1.0 | 2/2 | 9 | Missense | 953A>G | — | M307V | ND |
| 150a*/b*-S | India | 3/1 | 3/2** | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 151a*/b*-S | US | ? | 5/5 | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 152-B | Italy | 7 | 5 | 10 | Nonsense | 995C>T | — | R321X | ND |
| 153-S | US | ? | ND | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 154a/b-S | US Latino | 7.0/0.2 | ND | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 155-S | US | 1 | 2 | 10 | Deletion | 1017-1018delC | Multiple products | Multiple products | Absent |
| 156a*/b-S | US | 3/0.5 | 2/2 | 10 | Insertion | 1025insA | ND | fs stop aa 335 | Absent |
| 157-B | Italy | 3 (dec.) | 5 | 10 | Deletion | 1028delG | ND | fs stop aa 444 | Reduced |
| 158*-S | US | ? | 2 | 10 | Complex | 1029insT | del 966-1121 (50%) | inframe del 52aa | Red/trunc |
| del exon 10 (25%) | fs stop aa358 | ||||||||
| fs stop aa335 | |||||||||
| 1029 insT (25%) | |||||||||
| 159*-S | US | 10 | 4 | 10 | Deletion | 1030-1035delG | — | fs stop aa 444 | Absent |
| 160-S | US | ? | ND | 10 | Deletion | 1030-1035delG | — | fs stop aa 444 | Absent |
| 161-S | Brasil | 2.2 | ND | 10 | Deletion | 1030-1035delG | — | fs stop aa 444 | ND |
| 162a/b-S | US | 7.0/5 | 4/4 | 10 | Deletion | 1088-1092delC | Multiple products | Multiple products, fs stop aa 444 | Absent |
| 163-S | US | 4 | 5 | 10 | Deletion | 1088-1092delC | ND | Multiple products, fs stop aa 444 | ND |
| 164-S | New Zealand | 10 | 2 | 10 | Deletion | 1107-1108delGA | Multiple products | Multiple products, fs stop aa 493 | Red/trunc |
| 165*-S | US | 8 | 5 | 10 | Deletion | 1109-1113delC | — | fs stop aa 444 | Absent |
| 166*-S | US | 6 | 4 | 10 | Complex | 1109C>A, 1110-1113delC | — | P359T, fs stop aa 444 | Red/trunc |
| 167-B | Turkey | 5 | 4 | 10 | Missense | 1115C>A | — | P361T | ND |
| 168-S | Malaysia | 9 | 5 | 10 | Deletion | 1115-1119delC | — | fs stop aa 444 | ND |
| 169§-B | Italy | <2 | 2** | 10 | Complex | 1115-1119insC | — | fs stop aa 494 | ND |
| (2 populat.) | 1110-1182del | infr.del24aa | |||||||
| 170-B | Turkey | 12 | 5 | 10 | Nonsense | 1124C>T | — | R364X | ND |
| 171-S | US | 2 | 3 | 10 | Deletion | 1145-1149delC | Exon 10 del | fs stop aa 444 | Absent |
| 172-B | Italy | 10 | 5 | 10 | Deletion | 1184-1185delC | — | fs stop aa 444 | Absent |
| 173-S | Canada | 0.5 | 3 | 10 | Insertion | 1187-1191 insC | — | fs stop aa 494 | ND |
| 174-B | Bosnia | 4 | 5 | 10 | Deletion | 1192delT | — | fs stop aa 444 | Absent |
| 175-S | Puerto Rico | 1 | 4 | 10 | Insertion | 1286 ins4bp | — | fs stop aa 495 | Absent |
| 176*-S | US | 1.8 | 4 | 10 | Insertion | 1301-1305 insG | — | fs stop aa 494 | Red/trunc |
| 177*-S | US Latino | 8 | 5 | 10 | Insertion | 1301-1305 insG | — | fs stop aa 494 | Red/trunc |
| 178*-S | US | 14 | 5 | 10 | Deletion | 1301-1305 insG | — | fs stop aa 494 | Red/trunc |
| 179∥-B | Italy | 9 | 0.5 | 11 | Missense | 1476T>A | — | 1481N | normal |
| 180-B | Italy | 7 | 5 | 11 | Insertion | 1486-1487insTC | — | fs lack of term. codon | ND |
| 181-B | Russia | 6 | 5 | 12 | Deletion | 1519delT | — | fs lack of term. codon | Absent |
| 182-S | US | 2.5 | 1 | 12 | Missense | 1542G>C | — | X503S | Absent |
| 183-B | Turkey | 8.5 | 2 | 12 | Missense | 1542G>C | — | X503S | ND |
| 184-S | US | <2 | 3-4** | 5′UTR-Intron 2 | Deletion | del 5′UTR -719 to IVS2+1 | No product | No product | Absent |
| 185-B | Russia | 6 | 4 | Intron 1 | Splice | IVSI-2a>g | ND | ND | ND |
| 186-S | US | 2.1 | 5 | Intron 2 | Splice | IVS2+1g>a | ND | ND | Absent |
| 187-S | US | 13 | 2 | Intron 2 | Splice | IVS2+1g>t | ND | ND | Absent |
| 188-S | US | 0.5 | ND | Intron 2 | Splice | IVS2-1 g>a | Exon 3 del | Inframe del 52 aa | ND |
| 189*-S | US | 4.0 | 3 | Intron 3 | Splice | IVS3-1 g>a | ins intron 3 | fs stop aa 201 | Absent |
| 190a/b-B | Russia | 5/7 | 3/3 | Intron 4 | Splice | IVS4-7 t>g | ND | ND | ND |
| 191-B | Croatia | 8 | 5 | Intron 6 | Splice | INS6+2t>g | ND | ND | ND |
| 192*-S | US | 7 | 1 | Intron 6 | Splice | IVS6+5 g>a | 70% ins38nt intron 6/30% normal | fs stop aa 190/normal | Reduced |
| 193-S | US | 14.0 | 2 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 194-S | US | 1.4 | 2 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 195a/b/c/d-S | US | 6/18/7/9 | 1/1/1/1 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 196a¶/b-S | US | 43 (dec.)/55 | 5/1 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 197-S | US African American | 12 | 2 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 198a/b-B | Italy | 4/1.8 (dec.) | 5/5 | Intron 7 | Splice | IVS7+1g>t | ND | ND | Absent |
| 199-B | Sweden | 10 (dec.) | 4 | Intron 7 | Splice | IVS7+1g>a | ND | ND | ND |
| 200-S | US | <3 | 2 | Intron 8 | Splice | IVS8+1g>a | Exon 8 del | fs stop aa 246 | Absent |
| 201-S | US | 1 | 4 | Intron 8 | Splice | IVS8+1g>a | Exon 8 del | fs stop aa 246 | Absent |
| 202-S | US American Indian | 10 | 3-4 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 203-S | US | <2 | 2 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 204-B | Italy | 7.9 | 2-3** | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | ND |
| 205-B | Italy | 1.5 (dec.) | 5 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 206-B | Sweden | 6 | 2 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | ND |
| 207-S | US | 0.1 | ND | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 208a/b/c/d-S | US Latino | 12/5/1.5/0.5 | 4**/3**/3**/2 | Intron 8 | Splice | IVS8+1g>c | ND | fs stop aa 246 | Absent |
| 209-S | Nepal | 2 | ND | Intron 8 | Splice | IVS8+1g>1 | Exon 8 del | ND | ND |
| 210-S | US | 0.8 | 3 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Absent |
| 211-S | Thailand | 9 | 4 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Absent |
| 212-S | US | 0.5 | 2 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Absent |
| 213-S | US | 1.0 | 3 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Reduced, normal size |
| 214-S | US | 2.0 | ND | Intron 8 | Splice | IVS8+2 to3 del tg | Exon 8 del | fs stop aa 246 | Absent |
| 215a§/b-B | Italy | 11/2.1 | 3/2 | Intron 8 | Splice | IVS8+3insT | ND | ND | ND |
| 216-S | US | 8 | 4 | Intron 8 | Splice | IVS8+5g>a | Exon 8 del | fs stop aa 246 | Absent |
| 217-S | US | 3.0 | 2 | Intron 8 | Splice | IVS8-2a>g | Intron 8ins | fs stop aa 328 | Absent |
| 218-S | US | 1 | 3 | Intron 9 | Splice | IVS9+1g>a | ND | ND | Absent |
| 219-B | Italy | 22 | 4 | Intron 9 | Splice | IVS9+2del tgag | ND | ND | ND |
| 220a*/b*-S | US | 2/<2 | 4/2** | Intron 9 | Splice | IVS9+2t>c | 80% ins 114nt of Intron 9 20% Intron9ins | fs stop aa 326 | Absent |
| 221-B | Sweden | 22 | 5 | Intron 9 | Splice | IVS9+2t>g | ND | ND | ND |
| 222*-S | US Greek | 1 | 4 | Intron 10 | Complex | IVS10del 9nt, ins 11 nt | 1372 ins 13nt | fs stop aa 498 | Red/trunc |
| 223§-B | Italy | <2 | 2-3** | Intron 10 | Splice | IVS10-3delC | ND | ND | ND |
| 224§-B | Italy | <2 | 1** | Intron 10 | Splice | IVS10-2a>t | ND | ND | Reduced |
| 225-B | Turkey | 7 | 4 | Intron 10 | Splice | IVS10-2a>c | ND | ND | ND |
| 226*-S | Canada | 4 | 4 | Intron 11 | Splice | IVS11+2t>c | Exon 11 del | fs stop aa 543 | Absent |
| 227*-S | US | ? | 5 | Intron 11 | Splice | IVS11+2t>g | Exon 11 del | fs stop aa 543 | Absent |
Patient . | Origin . | Age, y . | Score . | Exon . | Mutation type . | gDNA mutation . | cDNA mutation (if different from gDNA) . | Predicted protein change . | Western blot . |
|---|---|---|---|---|---|---|---|---|---|
| 1-S | US | 18 | 3 | 1 | Insertion | 41 insA | —†† | fs stop aa 37 | Absent |
| 2-B | Sweden | 6 (dec.) | 4 | 1 | Insertion | 41 insG | — | fs stop aa 37 | ND |
| 3-S | US | 4 | 5 | 1 | Deletion | 56-57delG | — | fs stop aa 44 | Absent |
| 4*-S | US | ? | 3 | 1 | Insertion | 62-64insC | — | fs stop aa 37 | Absent |
| 5-S | US | 0.2 | 3 | 1 | Insertion | 65-69insG | — | fs stop aa 37 | ND |
| 6*-S | US | 5.0 (dec.) | 5 | 1 | Nonsense | 71C>T | — | R13X | Absent |
| 7a*/b-S | US | 1.9/<2 | 4/3** | 1 | Nonsense | 71C>T | — | R13X | Absent |
| 8-B | Italy | 1.6 (dec.) | 4 | 1 | Nonsense | 71C>T | — | R13X | ND |
| 9-B | Italy | 8 | 4 | 1 | Nonsense | 74G>T | — | G14X | ND |
| 10-S | US | 5 | 3-4 | 1 | Missense | 104T>C | — | S24P | Reduced |
| 11-S | Thailand | 12 | 2 | 1 | Missense | 105C>T | ND | S24F | ND |
| 12§-B | Italy | 1.9 (dec.) | 5 | 1 | Deletion | 115-116delC | — | fs stop aa 44 | Absent |
| 13*-S | US | 12 | 2 | 1 | Missense | 113C>T | — | L27F | Reduced |
| 14-S | US | 7.5 | 3-4 | 1 | Deletion | 122-124del | — | Inframe | ND |
| 15-S | US | 1 | 1 | 1 | Missense | 125G>A | — | E31K | Absent |
| 16-S | Canada | 2 | 2 | 1 | Missense | 125G>A | — | E31K | Reduced |
| 17-B | Italy | 7 | 2-3 | 1 | Missense | 125G>A | — | E31K | Absent |
| 18-S | Chile | 0.3 | 1 | 1 | Missense | 125G>A | — | E31K | Reduced |
| 19-S | US | 0.4 | ND | 1 | Missense | 125G>A | — | E31K | Absent |
| 20-S | US | 0.5 | 1 | 1 | Nonsense | 134C>T | — | R34X | ND |
| 21-S | US | 1.1 | 3 | 1 | Nonsense | ND | 134C>T | R34X | Absent |
| 22—S | US | 0.2 | 5 | 1 | Nonsense | 134C>T | — | R34X | Absent |
| 23-B | Turkey | 5 | 2 | 1 | Missense | 138T>A | — | L35H | ND |
| 24*-S | US | 2.1 | 5 | 1 | Missense | 138,139TC>AT | — | L35H | Reduced |
| 25-S | Greece | 0.3 | 1 | 1 | Deletion | 140-142delTT | — | fs stop aa 36 | Absent |
| 26*-S | US | 4 | 4 | 1 | Deletion | 140-142delTT | — | fs stop aa 36 | Absent |
| 27-B | Italy | 2.3 (dec) | 5 | 1 | Deletion | 140-142delTT | — | fs stop aa 36 | ND |
| 28-S | US | 0.4 | ND | 1 | Insertion | 140-142insT | — | fs stop aa 37 | Absent |
| 29*-S | US | 8 | 2 | 1 | Missense | 150T>C | — | L39P | Reduced |
| 30a*/b*-S | US | 16/10 | 2/2 | 1 | Missense | 150T>C | — | L39P | Reduced |
| 31 a/b-B | Italy | 14/11 | 2/2-3 | 1 | Missense | 150T>C | — | L39P | Reduced |
| 32§-B | Italy | 6 (dec.) | 5 | 1 | Nonsense | 155C>T | — | R41X | Absent |
| 33§-B | Italy | 0.7 (dec.) | 5 | 1 | Nonsense | 155C>T | — | R41X | ND |
| 34-B | Italy | 9 | 4 | 1 | Nonsense | 155C>T | — | R41X | ND |
| 35-S | US | 0.2 | 2 | 1 | Nonsense | 155C>T | — | R41X | Absent |
| 36-S | US | 8 | 2 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 37-S | US | 0.3 | 1-2 | 2 | Missense | 168C>T | — | T45M | Absent |
| 38a*/b*-S | Canada | 8/2 | 2/2 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 39*-S | US | 8 | 1 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 40-S | US | ? | ND | 2 | Missense | 168C>T | — | T45M | Reduced |
| 41-B | Croatia | 6 | 2 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 42-S | US | 2.5 | 1 | 2 | Missense | 168C>T | — | T45M | Reduced |
| 43*-S | Polynesia | 8 | 2 | 2 | Missense | 174C>A | — | A47D | Reduced |
| 44*-S | US | 22 | 2 | 2 | Missense | 177C>T | — | T48I | Reduced |
| 45-S | US | 6 | 4 | 2 | Deletion | 186-196del | — | fs stop aa 58 | Absent |
| 46-S | US | 9 | 1 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 47-S | US | 2.7 | 1 | 2 | Missense | 201C>T | — | A56V | ND |
| 48*-S | US | ? | 1 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 49-B | Italy | 16 | 1 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 50a/b-S | US | 75/3 | 1/2 | 2 | Missense | 201C>T | — | A56V | Reduced |
| 51-S | US | 1 | ND | 2 | Deletion | 201-213del | — | fs stop aa 71 | ND |
| 52-S | US | ? | 2 | 2 | Missense | 206C>G | — | P58A | Reduced |
| 53a/b/c∥-B | Italy | 9/7/32 | 0.5/0.5/0.5 | 2 | Missense | 207C>G | — | P58R | Normal |
| 54*-S | Canada | 5 (dec.) | 5 | 2 | Deletion | 206-210delC | — | fs stop aa 75 | ND |
| 55a*/b*-S | US | 5/20 | 5/5 | 2 | Deletion | 211 delT | — | fs stop aa 75 | Absent |
| 56-B | Nicaragua | 1.5 | 4 | 2 | Complex (2 populations) | 211 delT | — | fs stop aa 75 | ND |
| 211T>C | P59P | ||||||||
| 57-B | Italy | 12 (dec.) | 4 | 2 | Missense | 224T>C | — | W64R | ND |
| 58-S | US | 13 (dec.) | 5 | 2 | Deletion | del 237-46 | — | fs stop aa 72 | Absent |
| 59-S | US | 1.2 | 2-3 | 2 | Missense | 252G>A | — | C73Y | Reduced |
| 60-B | Italy | 8 | 3 | 2 | Missense | 252G>A | — | C73Y | ND |
| 61-B | Russia | 1.8 | 2-3 | 2 | Missense | 255T>C | — | F74S | ND |
| 62-S | India | 5 | 2 | 2 | Missense | 257G>A | — | V75M | Reduced |
| 63a*/b*/c*-S | US | 5/4/17 | 2/2/2 | 2 | Missense | 257G>A | — | V75M | Reduced |
| 64a/b-B | Italy | 15/24 | 1/2 | 2 | Missense | 257G>A | — | V75M | Reduced |
| 65-S | US | 3 | 1 | 2 | Missense | 257G>A | — | V75M | Normal |
| 68-S | US | 6 | 2 | 2 | Missense | 261A>C | — | K76T | ND |
| 69-B | Italy | 9 | 2 | 2 | Missense | 263G>C | — | D77H | Reduced |
| 70a/b-B | Italy | 7/3 | 2/1 | 2 | Missense | 264A>G | — | D77G | Reduced |
| 71-S | US | 1 | 2 | 2 | Missense | 278T>C | — | S82P | Reduced |
| 72-B | Serbia | 9 | 5 | 2 | Deletion | 279-280delC | — | fs stop aa 126 | ND |
| 73a/b-B | New Zealand | 14/9 | 2/2 | 2 | Missense | 290C>A | — | R86S | ND |
| 74-S | US | 11 | 2 | 2 | Missense | 290C>G | — | R86G | Reduced |
| 75-S | US, African American | 19 | 2 | 2 | Missense | 290C>T | — | R86C | Absent |
| 76-S | US | 9 | 2-3 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 77-S | US | 4 | 2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 78-S | US | 5 | 2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 79a*/b*-S | US | ? | 2/2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 80*-S | US | ? | 1 | 2 | Missense | 290C>T | — | R86C | ND |
| 81-B | Israel | 8 | 1 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 82-S | US | 2 | 2 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 83-B | Turkey | 13 | 2 | 2 | Missense | 290C>T | — | R86C | ND |
| 84-S | Malaysia | 6 | 1 | 2 | Missense | 290C>T | — | R86C | Reduced |
| 85-S | US | 15 | 1-2 | 2 | Missense | 291G>A | — | R86H | Absent |
| 86*-S | US | 10 | 2 | 2 | Missense | 291G>A | — | R86H | Reduced |
| 87-S | US | 0.5 | 2-3** | 2 | Missense | 291G>A | — | R86H | Reduced |
| 88-B | Russia | 17.5 | 3 | 2 | Missense | 291G>A | — | R86H | Reduced |
| 89-S | US | 5.5 | 2 | 2 | Missense | 291G>T | — | R86L | Absent |
| 90*-S | Hungary | 3.5 | 4 | 3 | Deletion | 312-313delGT | ND | ND | ND |
| 91-S | US | 5 | 5 | 3 | Nonsense | 325G>A | — | W97X | Absent |
| 92-S | US | 1.3 | 5 | 3 | Nonsense | 325G>A | — | W97X | Absent |
| 93-S | US | 1.5 | 4 | 3 | Nonsense | 329C>T | ND | Q99X | Absent |
| 94*-S | US | ? | 5 | 3 | Complex | 329C>T | 329C>T/exon3del | Q99X/inframe Exon3del | Absent |
| 95-B | Finland | 2.5 | 1-2 | 3 | Missense | 334G>T | — | E100D | ND |
| 96-B | Italy | 5 | 2 | 3 | Missense | 348T>C | — | L105P | Reduced |
| 97*-S | US | <2 | 2** | 3 | Missense | 354A>G | — | Y107C | Reduced |
| 98-S | US | <2 | 2** | 3 | Deletion | 360-364delC | — | fs stop aa 126 | Absent |
| 99-S | US | 0.5 | 4 | 3 | Deletion | 360-364delC | — | fs stop aa 126 | Absent |
| 100-B | Italy | 7 | 4 | 3 | Insertion | 360-364insC | — | fs stop aa 121 | Absent |
| 101-S | US | ? | 2 | 3 | Insertion | 360-364insC | — | fs stop aa 121 | ND |
| 102-S | US | 2.1 | 5 | 3 | Deletion | 366-370delC | — | fs stop aa 126 | Absent |
| 103-S | US | 0.3 | 5 | 3 | Deletion | 371-372delT | — | fs stop aa 126 | Absent |
| 104-S | US | 0.9 | 1-2 | 3 | Missense | 390G>A | — | G119E | Reduced |
| 105a/b-S | Malaysia | 4/0.2 | 4/1 | 4 | Nonsense | 400C>A | Multiple products | C122X | Absent |
| 106*-S | ? | 5 | 4 | Missense | 407G>A | — | G125R | Absent | |
| 107-S | Greece | 1 | 5 | 4 | Missense | 411T>C | — | L126P | ND |
| 108-S | US | 0.3 | 5 | 4 | Missense | 416T>C | — | F128L | Absent |
| 109-S | US | ? | 5 | 4 | Missense | 416T>C | — | F128L | ND |
| 110*-S | US | 9 | 4 | 4 | Missense | 417T>C | — | F128S | ND |
| 111*-S | US | 8 | 3 | 4 | Complex | 425G>A,431G>A | — | E131K, E133K | Absent |
| 112a*/b*-S | US | 14 (dec.)/3 | 5/4 | 4 | Complex | 425G>A,290C>T | — | E131K,R86C | Absent |
| 113-S | Chile | 2 | 3 | 4 | Missense | 431G>A | — | E133K | ND |
| 114-B | Italy | 3.5 (dec.) | 5 | 4 | Missense | 431G>A | — | E133K | ND |
| 115-S | US | 12 | 2 | 4 | Missense | 433G>T | — | E133D | Reduced |
| 116-S | US | 0.7 | 1 | 4 | Missense | 433G>T | — | E133D | Reduced |
| 117*-S | US | 15 | 4 | 4 | Missense | 435C>T | — | A134V | Reduced |
| 118-S | US | 17 | 2 | 4 | Insertion | C435 ins 6bp | — | 134 DE ins | ND |
| 119-S | US | 2 | 2 | 4 | Complex | 447G>A, IVS11-1g>a | 447G>A, exon 11del | R149Q fs stop aa 543 | Reduced |
| 120-B | Italy | 3.5 (dec.) | 4 | 4 | Deletion | 451-458del | — | fs stop aa 165 | ND |
| 121-B | Italy | 13 (dec.) | 4 | 4 | Insertion | 471-476insA | ND | fs stop aa 168 | ND |
| 122#-S | US | 13 | 2 | 4 | Insertion | 471-476insA | — | fs stop aa 168 | Absent |
| 123-B | Italy | 6 (dec.) | 5 | 4 | Deletion | 485-486delAG | — | fs stop aa 167 | Absent |
| 124a/b‡-B | Serbia | 17/21 | 5/5 | 5 | Insertion | 512-516insC | — | fs stop aa 168 | ND |
| 125-S | US | 4 | 5 | 5 | Insertion | 512-516insC | — | fs stop aa 168 | Absent |
| 126-B | Italy | 22 | 5 | 6 | Deletion | 570delT | — | fs stop aa 260 | ND |
| 127-S | US | ? | 2 | 6 | Deletion | 597-597delC | ND | fs stop aa 260 | ND |
| 128-B | Italy | 3 | 4 | 7 | Deletion | 644delA | — | fs stop aa 260 | Absent |
| 129-S | US | 0.5 (dec.) | 2-3** | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 130a/b-S | US | 1.5/0.8 | 4/3 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 131-S | US | 1 | 5 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 132-S | US | ? | 3-4 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 133-S | US Latino | <2 | 2** | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 134*-S | US | 14 | 4 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 135*-S | US | 11 | 4 | 7 | Nonsense | 665C>T | — | R211X | Absent |
| 136-B | Italy | 5 | 4 | 7 | Nonsense | 665C>T | — | R211X | ND |
| 137-B | Italy | 6 | 4 | 7 | Nonsense | 665C>T | — | R211X | ND |
| 138-B | Italy | 2.1 (dec.) | 4 | 7 | Nonsense | 665C>T | — | R211X | ND |
| 139*-S | US | 1.9 | 4 | 7 | Splice | 705A>G | 705-768 del | fs stop aa 239 | Absent |
| 140-S | US | >5 | 5 | 7 | Splice | 705A>G | 705-768 del | fs stop aa 239 | Absent |
| 141-B | Sweden | <2 | 2** | 7 | Nonsense | 717C>G | — | S228X | ND |
| 142-S | US | 4 | 3-4 | 7 | Deletion | 731delA | — | fs stop aa 260 | Absent |
| 143‡B | Italy | 15 | 1 | 7 | Missense | 741C>G | — | A236G | Reduced |
| 144-S | US | 0.7 | ND | 7 | Complex | Exon 7(−5 to IVS7 +22) (del 27 bp) | 764-768 del. IVS7 +22 to 71 (ins 49 bp) | fs stop aa 257 | Absent |
| 145§-B | England | 4 (dec.) | 5 | 9 | Nonsense | 887G>T | — | E285X | ND |
| 146-B | Italy | 10 | 2 | 9 | Deletion | 907delC | — | fs stop aa 291 | ND |
| 147*-S | US | 2.5 | 5 | 9 | Nonsense | 923C>T | — | Q297X | Absent |
| 148-S | Turkey | 1.2 | 3 | 9 | Nonsense | 950G>T | — | E306X | Reduced |
| 149a*/b*†-S | US | ?/1.0 | 2/2 | 9 | Missense | 953A>G | — | M307V | ND |
| 150a*/b*-S | India | 3/1 | 3/2** | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 151a*/b*-S | US | ? | 5/5 | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 152-B | Italy | 7 | 5 | 10 | Nonsense | 995C>T | — | R321X | ND |
| 153-S | US | ? | ND | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 154a/b-S | US Latino | 7.0/0.2 | ND | 10 | Nonsense | 995C>T | — | R321X | Absent |
| 155-S | US | 1 | 2 | 10 | Deletion | 1017-1018delC | Multiple products | Multiple products | Absent |
| 156a*/b-S | US | 3/0.5 | 2/2 | 10 | Insertion | 1025insA | ND | fs stop aa 335 | Absent |
| 157-B | Italy | 3 (dec.) | 5 | 10 | Deletion | 1028delG | ND | fs stop aa 444 | Reduced |
| 158*-S | US | ? | 2 | 10 | Complex | 1029insT | del 966-1121 (50%) | inframe del 52aa | Red/trunc |
| del exon 10 (25%) | fs stop aa358 | ||||||||
| fs stop aa335 | |||||||||
| 1029 insT (25%) | |||||||||
| 159*-S | US | 10 | 4 | 10 | Deletion | 1030-1035delG | — | fs stop aa 444 | Absent |
| 160-S | US | ? | ND | 10 | Deletion | 1030-1035delG | — | fs stop aa 444 | Absent |
| 161-S | Brasil | 2.2 | ND | 10 | Deletion | 1030-1035delG | — | fs stop aa 444 | ND |
| 162a/b-S | US | 7.0/5 | 4/4 | 10 | Deletion | 1088-1092delC | Multiple products | Multiple products, fs stop aa 444 | Absent |
| 163-S | US | 4 | 5 | 10 | Deletion | 1088-1092delC | ND | Multiple products, fs stop aa 444 | ND |
| 164-S | New Zealand | 10 | 2 | 10 | Deletion | 1107-1108delGA | Multiple products | Multiple products, fs stop aa 493 | Red/trunc |
| 165*-S | US | 8 | 5 | 10 | Deletion | 1109-1113delC | — | fs stop aa 444 | Absent |
| 166*-S | US | 6 | 4 | 10 | Complex | 1109C>A, 1110-1113delC | — | P359T, fs stop aa 444 | Red/trunc |
| 167-B | Turkey | 5 | 4 | 10 | Missense | 1115C>A | — | P361T | ND |
| 168-S | Malaysia | 9 | 5 | 10 | Deletion | 1115-1119delC | — | fs stop aa 444 | ND |
| 169§-B | Italy | <2 | 2** | 10 | Complex | 1115-1119insC | — | fs stop aa 494 | ND |
| (2 populat.) | 1110-1182del | infr.del24aa | |||||||
| 170-B | Turkey | 12 | 5 | 10 | Nonsense | 1124C>T | — | R364X | ND |
| 171-S | US | 2 | 3 | 10 | Deletion | 1145-1149delC | Exon 10 del | fs stop aa 444 | Absent |
| 172-B | Italy | 10 | 5 | 10 | Deletion | 1184-1185delC | — | fs stop aa 444 | Absent |
| 173-S | Canada | 0.5 | 3 | 10 | Insertion | 1187-1191 insC | — | fs stop aa 494 | ND |
| 174-B | Bosnia | 4 | 5 | 10 | Deletion | 1192delT | — | fs stop aa 444 | Absent |
| 175-S | Puerto Rico | 1 | 4 | 10 | Insertion | 1286 ins4bp | — | fs stop aa 495 | Absent |
| 176*-S | US | 1.8 | 4 | 10 | Insertion | 1301-1305 insG | — | fs stop aa 494 | Red/trunc |
| 177*-S | US Latino | 8 | 5 | 10 | Insertion | 1301-1305 insG | — | fs stop aa 494 | Red/trunc |
| 178*-S | US | 14 | 5 | 10 | Deletion | 1301-1305 insG | — | fs stop aa 494 | Red/trunc |
| 179∥-B | Italy | 9 | 0.5 | 11 | Missense | 1476T>A | — | 1481N | normal |
| 180-B | Italy | 7 | 5 | 11 | Insertion | 1486-1487insTC | — | fs lack of term. codon | ND |
| 181-B | Russia | 6 | 5 | 12 | Deletion | 1519delT | — | fs lack of term. codon | Absent |
| 182-S | US | 2.5 | 1 | 12 | Missense | 1542G>C | — | X503S | Absent |
| 183-B | Turkey | 8.5 | 2 | 12 | Missense | 1542G>C | — | X503S | ND |
| 184-S | US | <2 | 3-4** | 5′UTR-Intron 2 | Deletion | del 5′UTR -719 to IVS2+1 | No product | No product | Absent |
| 185-B | Russia | 6 | 4 | Intron 1 | Splice | IVSI-2a>g | ND | ND | ND |
| 186-S | US | 2.1 | 5 | Intron 2 | Splice | IVS2+1g>a | ND | ND | Absent |
| 187-S | US | 13 | 2 | Intron 2 | Splice | IVS2+1g>t | ND | ND | Absent |
| 188-S | US | 0.5 | ND | Intron 2 | Splice | IVS2-1 g>a | Exon 3 del | Inframe del 52 aa | ND |
| 189*-S | US | 4.0 | 3 | Intron 3 | Splice | IVS3-1 g>a | ins intron 3 | fs stop aa 201 | Absent |
| 190a/b-B | Russia | 5/7 | 3/3 | Intron 4 | Splice | IVS4-7 t>g | ND | ND | ND |
| 191-B | Croatia | 8 | 5 | Intron 6 | Splice | INS6+2t>g | ND | ND | ND |
| 192*-S | US | 7 | 1 | Intron 6 | Splice | IVS6+5 g>a | 70% ins38nt intron 6/30% normal | fs stop aa 190/normal | Reduced |
| 193-S | US | 14.0 | 2 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 194-S | US | 1.4 | 2 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 195a/b/c/d-S | US | 6/18/7/9 | 1/1/1/1 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 196a¶/b-S | US | 43 (dec.)/55 | 5/1 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 197-S | US African American | 12 | 2 | Intron 6 | Splice | IVS6+5 g>a | ins 38nt intron 6/normal | fs stop aa 190/normal | Reduced |
| 198a/b-B | Italy | 4/1.8 (dec.) | 5/5 | Intron 7 | Splice | IVS7+1g>t | ND | ND | Absent |
| 199-B | Sweden | 10 (dec.) | 4 | Intron 7 | Splice | IVS7+1g>a | ND | ND | ND |
| 200-S | US | <3 | 2 | Intron 8 | Splice | IVS8+1g>a | Exon 8 del | fs stop aa 246 | Absent |
| 201-S | US | 1 | 4 | Intron 8 | Splice | IVS8+1g>a | Exon 8 del | fs stop aa 246 | Absent |
| 202-S | US American Indian | 10 | 3-4 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 203-S | US | <2 | 2 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 204-B | Italy | 7.9 | 2-3** | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | ND |
| 205-B | Italy | 1.5 (dec.) | 5 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 206-B | Sweden | 6 | 2 | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | ND |
| 207-S | US | 0.1 | ND | Intron 8 | Splice | IVS8+1g>a | ND | fs stop aa 246 | Absent |
| 208a/b/c/d-S | US Latino | 12/5/1.5/0.5 | 4**/3**/3**/2 | Intron 8 | Splice | IVS8+1g>c | ND | fs stop aa 246 | Absent |
| 209-S | Nepal | 2 | ND | Intron 8 | Splice | IVS8+1g>1 | Exon 8 del | ND | ND |
| 210-S | US | 0.8 | 3 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Absent |
| 211-S | Thailand | 9 | 4 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Absent |
| 212-S | US | 0.5 | 2 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Absent |
| 213-S | US | 1.0 | 3 | Intron 8 | Splice | IVS8+1 to+6 del gtga | Exon 8 del | fs stop aa 246 | Reduced, normal size |
| 214-S | US | 2.0 | ND | Intron 8 | Splice | IVS8+2 to3 del tg | Exon 8 del | fs stop aa 246 | Absent |
| 215a§/b-B | Italy | 11/2.1 | 3/2 | Intron 8 | Splice | IVS8+3insT | ND | ND | ND |
| 216-S | US | 8 | 4 | Intron 8 | Splice | IVS8+5g>a | Exon 8 del | fs stop aa 246 | Absent |
| 217-S | US | 3.0 | 2 | Intron 8 | Splice | IVS8-2a>g | Intron 8ins | fs stop aa 328 | Absent |
| 218-S | US | 1 | 3 | Intron 9 | Splice | IVS9+1g>a | ND | ND | Absent |
| 219-B | Italy | 22 | 4 | Intron 9 | Splice | IVS9+2del tgag | ND | ND | ND |
| 220a*/b*-S | US | 2/<2 | 4/2** | Intron 9 | Splice | IVS9+2t>c | 80% ins 114nt of Intron 9 20% Intron9ins | fs stop aa 326 | Absent |
| 221-B | Sweden | 22 | 5 | Intron 9 | Splice | IVS9+2t>g | ND | ND | ND |
| 222*-S | US Greek | 1 | 4 | Intron 10 | Complex | IVS10del 9nt, ins 11 nt | 1372 ins 13nt | fs stop aa 498 | Red/trunc |
| 223§-B | Italy | <2 | 2-3** | Intron 10 | Splice | IVS10-3delC | ND | ND | ND |
| 224§-B | Italy | <2 | 1** | Intron 10 | Splice | IVS10-2a>t | ND | ND | Reduced |
| 225-B | Turkey | 7 | 4 | Intron 10 | Splice | IVS10-2a>c | ND | ND | ND |
| 226*-S | Canada | 4 | 4 | Intron 11 | Splice | IVS11+2t>c | Exon 11 del | fs stop aa 543 | Absent |
| 227*-S | US | ? | 5 | Intron 11 | Splice | IVS11+2t>g | Exon 11 del | fs stop aa 543 | Absent |
The “B” associated with the patient number identifies Brescia, the “S” identifies Seattle as the study center. a/b/c/d indicates individuals from the same family; ND, not determined; Red/trunc, reduced in quantity and truncated (small protein size); and dec., deceased.
Reported in Zhu et al,15 1997.
Reported by Kwan et al,22 1995.
Reported by Villa et al,10 1995.
Reported by Wengler et al,18 1995.
Reported by Notarangelo et al,23 2002.
This patient had a score of 1, at age 43 developed fatal lymphoma (score 5).
Remutation occurred in an early lymphocyte population.
This patient underwent BMT before 2 years of age.
The cDNA mutation was the same as the gDNA mutation.