Fetal | Truncation/truncation | F3 | French | 59 | c.9689delA | p.D3230fs |
| | | | 59 | c.9689delA | p.D3230fs |
| | F6 | French | 5 | c.353delG | p.S118fs |
| | | | 41 | c.6653_6660dup | p.T2221fs |
| | F7 | French | 36 | c.5895dupA | p.L1966fs |
| | | | 69 | c.11524 C→T | p.R3842X |
| | F13 | French | 59 | c.9689delA | p.D3230fs |
| | | | 59 | c.9689delA | p.D3230fs |
| | F15 | French | 5 | c.370 C→T | p.R124X |
| | | | 36 | c.5895dupA | p.L1966fs |
Fetal | Splice/splice | F16 | French | IVS32 | c.5237-1 G→A | |
| | | | 60 | c.9998 G→C | p.R3333T |
Fetal | Truncation/missense | F1 | French | 22 | c.2269 A→C | p.I757L |
| | | | 24 | c.2520_2526del7 | p.Y841fs |
| | F2 | French | 6 | c.410 C→G | p.P137R |
| | | | 23 | c.2341 C→T | p.R781X |
| | F11 | French | 3 | c.107 C→T | p.T36M |
| | | | 59 | c.9689delA | p.D3230fs |
| | F14 | French | 3 | c.107 C→T | p.T36M |
| | | | 36 | c.5895dupA | p.L1966fs |
| | 112-1 | Caucasian American | 12 | c.806 G→T | p.G269V |
| | | | 32 | c.3761_3762delCCinsG | p.A1254fs |
Fetal | Truncation/splice | F4 | French | IVS5 | c.391-5 A→G | |
| | | | 59 | c.9689delA | p.D3230fs |
| | F5 | French | IVS50 | c.7912-1 G→C | |
| | | | 59 | c.9689delA | p.D3230fs |
Fetal | Splice/missense | F12 | French | IVS33 | c.5381-2 A→C | |
| | | | 34 | c.5410 C→T | p.R1804C |
Fetal | Missense/missense | F10 | French | 53 | c.8206 T→G | p.W2736G |
| | | | 59 | c.9719 G→T | p.R3240L |
Fetal | Truncation | F9 | French | 34 | c.5582delT | p.F1861fs |
| | 36-4 | Caucasian American | 15 | c.1212 G→A | p.W404X |
Fetal | Splicing | 12-5 | Caucasian American | IVS37 | c.6121+3_6121+4insT | |
| | F8 | French | IVS53 | c.8302+3 G→C | |
Perinatal | Truncation/truncation | 111-1 | Caucasian American | 32 | c.3761_3762delCCinsG | p.A1254fs |
| | | | 32 | c.3761_3762delCCinsG | p.A1254fs |
| | 39-1 | Hispanic American | 59 | c.9689delA | p.D3230fs |
| | | | 59 | c.9689delA | p.D3230fs |
| | 48-1 | Hispanic American | 40 | c.6383delT | p.L2128fs |
| | | | 59 | c.9689delA | p.D3230fs |
Perinatal | Truncation/splice | 2-5 | Caucasian American | IVS13 | c.976+2 T→A | |
| | | | 32 | c.3761_3762delCCinsG | p.A1254fs |
| | 10-20 | Hispanic American | 29 | c.3364 G→A | p.G1122S |
| | | | 32 | c.3761_3762delCCinsG | p.A1254fs |
| | 21-1 | Caucasian American | 14 | c.977 G→T | p.G326V |
| | | | 19 | c.1774 C→T | p.R592X |
Perinatal | Splice/in-frame indel | 2-18 | Caucasian American | IVS40 | c.6490+2 T→C | |
| | | | 53 | c.8246_8247delGGinsCC | p.W2749S |
Perinatal | Truncation/missense | 6-3 | Caucasian American | 22 | c.2180 dupA | p.N727fs |
| | | | 65 | c.10444 C→T | p.R3482C |
| | 89-1 | Caucasian American | 58 | c.8870 T→C | p.I2957T |
| | | | 65 | c.10637delT | p.V3546fs |
| | 84-1 | Hispanic American | 32 | c.3848 C→A | p.S1283X |
| | | | 59 | c.9311 T→G | p.F3104C |
| | 13-1 | Caucasian American | 36 | c.5895dupA | p.L1966fs |
| | | | 54 | c.8425 G→A | p.G2809R |
| | 36-6 | Caucasian American | 52 | c.8114delG | p.G2705fs |
| | | | 56 | c.8581 A→G | p.S2861G |
| | 43-1 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 11 | c.711_714delAATG | p.M238fs |
| | 9-1 | Caucasian American | 36 | c.5895dupA | p.L1966fs |
| | | | 58 | c.8870 T→C | p.I2957T |
| | 19-1 | Caucasian American | 32 | c.4415-4418del4ins11 | p.C1472fs |
| | | | 59 | c.9725 G→T | p.G3242V |
Perinatal | Splice/missense | 50-1 | Caucasian American | IVS12 | c.881-1 G→A | |
| | | | 69 | c.11611 T→C | p.W3871R |
Perinatal | Missense/missense | 7-14 | Caucasian American | 30 | c.3367 G→A | p.G1123S |
| | | | 56 | c.8588 A→G | p.Y2863C |
| | 9-12 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 55 | c.8518 C→T | p.R2840C |
| | 10-16 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 3 | c.107 C→T | p.T36M |
| | 33-1 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 65 | c.10805 C→T | p.P3602L |
| | | | 65 | c.10926 G→A | p.M3642I |
| | 49-1 | Caucasian American | 30 | c.3367 G→A | p.G1123S |
| | | | 32 | c.4751 G→T | p.S1584I |
Perinatal | Truncation | 28-4 | Caucasian American | 23 | c.2341 C→T | p.R781X |
| | 29-1 | Caucasian American | 32 | c.3761_3762delCCinsG | p.A1254fs |
Perinatal | Missense | 2-15 | Caucasian American | 32 | c.5236 G→A | p.G1746S |
| | 3-12 | Hispanic American | 16 | c.1409 G→A | p.G470D |
| | 110-1 | Caucasian American | 16 | c.1342 G→C | p.G448R |
Perinatal | | 42-1 | Caucasian Canadian | | No mutation; no mixing | |
| | 5-7 | Caucasian American | | No mutation; no mixing | |
Perinatal | | 10-24 | Caucasian American | | No mutation after mixing | |
| | 45-1 | Caucasian American | | No mutation after mixing | |
Older presentation | Truncation/missense | 7-1 | Caucasian American | 32 | c.3761_3762delCCinsG | p.A1254fs |
| | | | 32 | c.5160 C→A | p.D1720E |
| | 8-6 | Caucasian American | 9 | c.664 A→G | p.I222V |
| | | | 58 | c.8829dupC | p.I2944fs |
| | 14-1 | Caucasian American | 9 | c.664 A→G | p.I222V |
| | | | 32 | c.3761_3762delCCinsG | p.A1254fs |
| | 10-1 | Caucasian American | 30 | c.3407 A→G | p.Y1136C |
| | | | 32 | c.3761_3762delCCinsG | p.A1254fs |
| | 29-5 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 32 | c.3761_3762delCCinsG | p.A1254fs |
Older presentation | Truncation/in-frame deletion | 15-1 | Caucasian American | 15 | c.1159_1161delAAT | p.N387del |
| | | | 36 | c.5825 A→G | p.D1942G |
Older presentation | Splice/missense | SB131 | Saudi Arabian | 22 | c.2279 G→A | p.R760H |
| | | | 32 | c.4870 C→T | p.R1624W |
Older presentation | Missense/missense | 3-1 | Caucasian American | 30 | c.3367 G→A | p.G1123S |
| | | | 30 | c.3367 G→A | p.G1123S |
| | 4-1 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 9 | c.664 A→G | p.I222V |
| | 5-1 | Caucasian American | 37 | c.5912 G→A | p.G1971D |
| | | | 37 | c.5912 G→A | p.G1971D |
| | 8-19 | South African | 20 | c.1880 T→A | p.M627K |
| | | | 20 | c.1880 T→A | p.M627K |
| | 8-24 | South African | 20 | c.1880 T→A | p.M627K |
| | | | 20 | c.1880 T→A | p.M627K |
| | 10-10 | Egyptian American | 3 | c.107 C→T | p.T36M |
| | | | | c.107 C→T | p.T36M |
| | 37-1 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 34 | c.5387 T→C | p.L1796S |
| | 7-4 | Caucasian American | 3 | c.107 C→T | p.T36M |
| | | | 44 | c.6992 T→A | p.I2331L |
| | 92-1 | Turkish | 15 | c.1180 G→A | p.A394T |
| | | | 54 | c.8315 T→C | p.L2772P |
| | SB213 | Saudi Arabian | 32 | c.4870 C→T | p.R1624W |
| | | | 32 | c.4870 C→T | p.R1624W |
| | SB253 | Saudi Arabian | 32 | c.4870 C→T | p.R1624W |
| | | | 32 | c.4870 C→T | p.R1624W |
Older presentation | Truncation | 46-2 | Caucasian American | 36 | c.5895dupA | p.L1966fs |
| | 32-1 | Caucasian American | 59 | c.9689DelA | p.D3230fs |
| | 10-28 | Caucasian American | 20 | c.1854delA | p.G619fs |
| | | | | | |
Older presentation | Missense | 10-5 | Caucasian American | 55 | c.8518 C→T | p.R2840C |
Older presentation | | 3-5 | Caucasian American | | No mutation; no mixing | |
Older presentation | | SB137 | Saudi Arabian | | No mutation after mixing | |
CHF | Splice/missense | 72-1 | Hispanic American | IVS35 | c.5751+3 G→A | |
| | | | 59 | c.9107 T→G | p.V3036G |
CHF | Missense/missense | 74-1 | French Canadian | 56 | c.8581 A→G | p.S2861G |
| | | | 58 | c.8870 T→C | p.I2957T |
| | | | 65 | c.10319 T→A | p.V3440D |