This function displays the distribution of mutations at the nucleotide level to identify preferential mutations sites. Mutations are sorted by frequency.
| Position | Wild type codon | Number of records | Mutant codon | Mutation name | Number of records |
|---|
| 3381 | CGA | 23 (1,57 %) | TGA (C->T) | c.10141C>T | 23 |
| 3391 | CGA | 22 (1,5 %) | TGA (C->T) | c.10171C>T | 22 |
| 3408 | ACT | 20 (1,37 %) | spl+1 (G->A) | c.IVS70+1G>A (c.10223+1G>A) | 11 |
| | | spl+3 (G->C) | c.IVS70+3G>C (c.10223+3G>C) | 3 |
| | | spl+2 (InsT) | c.IVS70+2InsT (c.10223+2InsT) | 2 |
| | | spl+5 (G->A) | c.IVS70+5G>A (c.10223+5G>A) | 2 |
| | | spl-1 (InsT) | c.IVS70-1InsT (c.10224-1InsT) | 2 |
| 3370 | CGA | 15 (1,02 %) | TGA (C->T) | c.10108C>T | 15 |
| 3190 | CGA | 13 (0,89 %) | TGA (C->T) | c.9568C>T | 13 |
| 3188 | ACG | 12 (0,82 %) | spl+1 (G->A) | c.IVS65+1G>A (c.9563+1G>A) | 7 |
| | | spl+1215 (A->G) | c.IVS65+1215A>G (c.9563+1215A>G) | 2 |
| | | spl-2 (A->G) | c.IVS65-2A>G (c.9564-2A>G) | 2 |
| | | spl-427 (T->G) | c.IVS65-427T>G (c.9564-427T>G) | 1 |
| 2870 | CGA | 12 (0,82 %) | TGA (C->T) | c.8608C>T | 12 |
| 2553 | CGA | 12 (0,82 %) | TGA (C->T) | c.7657C>T | 12 |
| 768 | CGA | 12 (0,82 %) | TGA (C->T) | c.2302C>T | 12 |
| 1666 | CGA | 11 (0,75 %) | TGA (C->T) | c.4996C>T | 11 |
| 145 | CGA | 11 (0,75 %) | TGA (C->T) | c.433C>T | 11 |
| 11 | TAT | 11 (0,75 %) | spl+1 (G->T) | c.IVS1+1G>T (c.31+1G>T) | 7 |
| | | spl+5 (G->C) | c.IVS1+5G>C (c.31+5G>C) | 3 |
| | | spl+16 (C->G) | c.IVS1+16C>G (c.31+16C>G) | 1 |
| 3075 | AAC | 10 (0,68 %) | spl+1 (G->A) | c.IVS62+1G>A (c.9224+1G>A) | 3 |
| | | spl-647 (A->G) | c.IVS62-647A>G (c.9225-647A>G) | 2 |
| | | spl+5 (G->C) | c.IVS62+5G>C (c.9224+5G>C) | 1 |
| | | spl-1 (G->A) | c.IVS62-1G>A (c.9225-1G>A) | 1 |
| | | spl-10 (T->A) | c.IVS62-10T>A (c.9225-10T>A) | 1 |
| | | spl-2 (A->C) | c.IVS62-2A>C (c.9225-2A>C) | 1 |
| | | spl-287 (C->A) | c.IVS62-287C>A (c.9225-287C>A) | 1 |
| 1577 | CGA | 10 (0,68 %) | TGA (C->T) | c.4729C>T | 10 |
| 1506 | GTG | 10 (0,68 %) | spl+2 (T->G) | c.IVS32+2T>G (c.4518+2T>G) | 4 |
| | | spl+1 (G->T) | c.IVS32+1G>T (c.4518+1G>T) | 2 |
| | | spl+5 (G->A) | c.IVS32+5G>A (c.4518+5G>A) | 2 |
| | | del2b (Stop at 1509) | c.4517_4518delTG | 1 |
| | | spl+6 (T->A) | c.IVS32+6T>A (c.4518+6T>A) | 1 |
| 935 | ATT | 10 (0,68 %) | spl-2 (A->T) | c.IVS21-2A>T (c.2804-2A>T) | 8 |
| | | spl+1 (delG) | c.IVS21+1delG (c.2803+1delG) | 1 |
| | | spl-1 (G->T) | c.IVS21-1G>T (c.2804-1G>T) | 1 |
| 3485 | CTG | 9 (0,61 %) | del1b (Stop at 3495) | c.10454delT | 4 |
| | | del2a (Stop at 3489) | c.10453_10454delCT | 2 |
| | | ins1b (Stop at 3490) | c.10453dup | 2 |
| | | ins1c (Stop at 3490) | c.10454dup | 1 |
| 1967 | CGA | 9 (0,61 %) | TGA (C->T) | c.5899C>T | 9 |
| 1868 | AGA | 9 (0,61 %) | del4a (Stop at 1872) | c.5602_5605delAGAA | 8 |
| | | TGA (A->T) | c.5602A>T | 1 |
| 195 | CGA | 9 (0,61 %) | TGA (C->T) | c.583C>T | 9 |
| 3034 | CGA | 8 (0,55 %) | TGA (C->T) | c.9100C>T | 8 |
| 2982 | CGA | 8 (0,55 %) | TGA (C->T) | c.8944C>T | 8 |
| 2095 | CGA | 8 (0,55 %) | TGA (C->T) | c.6283C>T | 8 |
| 1051 | CGA | 8 (0,55 %) | TGA (C->T) | c.3151C>T | 8 |
| 761 | GAA | 8 (0,55 %) | del5a (Stop at 770) | c.2281_2285delGAAAA | 5 |
| | | TAA (G->T) | c.2281G>T | 2 |
| | | del4a (Stop at 765) | c.2281_2284delGAAA | 1 |
| 444 | AAT | 8 (0,55 %) | spl-9 (A->G) | c.IVS11-9A>G (c.1332-9A>G) | 6 |
| | | spl+1 (G->T) | c.IVS11+1G>T (c.1331+1G>T) | 2 |
| 3345 | CGA | 7 (0,48 %) | TGA (C->T) | c.10033C>T | 7 |
| 2680 | CGA | 7 (0,48 %) | TGA (C->T) | c.8038C>T | 7 |
| 2098 | CGA | 7 (0,48 %) | TGA (C->T) | c.6292C>T | 7 |
| 3362 | CCG | 6 (0,41 %) | spl+1 (G->A) | c.IVS69+1G>A (c.10086+1G>A) | 3 |
| | | del1c (Stop at 3376) | c.10086delG | 2 |
| | | spl+5 (G->C) | c.IVS69+5G>C (c.10086+5G>C) | 1 |
| 2131 | CAA | 6 (0,41 %) | del2a (Stop at 2133) | c.6391_6392delCA | 4 |
| | | del2c (Stop at 2133) | c.6393_6394delAA | 1 |
| | | ins2c (Stop at 2163) | c.6391_6392dup | 1 |
| 2097 | GGG | 6 (0,41 %) | spl+1 (G->T) | c.IVS43+1G>T (c.6290+1G>T) | 2 |
| | | ins80c (Ins) | c.6291ins80 ? | 1 |
| | | spl+2 (T->C) | c.IVS43+2T>C (c.6290+2T>C) | 1 |
| | | spl+5 (G->C) | c.IVS43+5G>C (c.6290+5G>C) | 1 |
| | | spl-1 (G->A) | c.IVS43-1G>A (c.6291-1G>A) | 1 |
| 983 | CAG | 6 (0,41 %) | spl+1 (G->T) | c.IVS22+1G>T (c.2949+1G>T) | 3 |
| | | CAC (G->C) | c.2949G>C | 1 |
| | | CAT (G->T) | c.2949G>T | 1 |
| | | TAG (C->T) | c.2947C>T | 1 |
| 3217 | TAC | 5 (0,34 %) | spl+1 (G->A) | c.IVS66+1G>A (c.9649+1G>A) | 4 |
| | | spl+6 (T->C) | c.IVS66+6T>C (c.9649+6T>C) | 1 |
| 3121 | TTG | 5 (0,34 %) | spl+1 (G->A) | c.IVS64+1G>A (c.9361+1G>A) | 5 |
| 2905 | CGA | 5 (0,34 %) | TGA (C->T) | c.8713C>T | 5 |
| 2890 | GAG | 5 (0,34 %) | AAG (G->A) | c.8668G>A | 2 |
| | | spl+1 (delG) | c.IVS58+1delG (c.8668+1delG) | 2 |
| | | spl-2 (A->G) | c.IVS58-2A>G (c.8669-2A>G) | 1 |
| 2797 | AGG | 5 (0,34 %) | spl+1 (delG) | c.IVS56+1delG (c.8390+1delG) | 2 |
| | | spl-1 (G->A) | c.IVS56-1G>A (c.8391-1G>A) | 2 |
| | | AAG (G->A) | c.8390G>A | 1 |
| 2676 | AGG | 5 (0,34 %) | spl+1 (G->A) | c.IVS54+1G>A (c.8027+1G>A) | 4 |
| | | spl+11 (C->T) | c.IVS54+11C>T (c.8027+11C>T) | 1 |
| 2670 | TGG | 5 (0,34 %) | TAG (G->A) | c.8009G>A | 4 |
| | | TGA (G->A) | c.8010G>A | 1 |
| 2205 | AGG | 5 (0,34 %) | spl+1 (G->A) | c.IVS45+1G>A (c.6614+1G>A) | 2 |
| | | spl+2 (T->C) | c.IVS45+2T>C (c.6614+2T>C) | 1 |
| | | spl-1 (G->C) | c.IVS45-1G>C (c.6615-1G>C) | 1 |
| | | spl-2 (A->T) | c.IVS45-2A>T (c.6615-2A>T) | 1 |
| 1851 | CAG | 5 (0,34 %) | TAG (C->T) | c.5551C>T | 4 |
| | | del1a (Stop at 1864) | c.5551delC | 1 |
| 1459 | CGA | 5 (0,34 %) | TGA (C->T) | c.4375C>T | 5 |
| 1243 | CTA | 5 (0,34 %) | del2a (Stop at 1252) | c.3727_3728delCT | 4 |
| | | ins1c (Stop at 1253) | c.3728dup | 1 |
| 1086 | AAG | 5 (0,34 %) | ins1c (Stop at 1097) | c.3257dup | 4 |
| | | del1b (Stop at 1088) | c.3257delA | 1 |
| 539 | CGA | 5 (0,34 %) | TGA (C->T) | c.1615C>T | 5 |
| 177 | AGG | 5 (0,34 %) | spl+2 (T->C) | c.IVS6+2T>C (c.530+2T>C) | 2 |
| | | spl-1 (G->T) | c.IVS6-1G>T (c.531-1G>T) | 1 |
| | | spl-16 (T->A) | c.IVS6-16T>A (c.531-16T>A) | 1 |
| | | spl-2 (A->C) | c.IVS6-2A>C (c.531-2A>C) | 1 |
| 3325 | AGG | 4 (0,27 %) | spl+1 (G->C) | c.IVS68+1G>C (c.9974+1G>C) | 3 |
| | | spl-2 (A->G) | c.IVS68-2A>G (c.9975-2A>G) | 1 |
| 3113 | CGA | 4 (0,27 %) | TGA (C->T) | c.9337C>T | 4 |
| 3068 | AAC | 4 (0,27 %) | del4c (Stop at 3087) | c.9204_9207delCAAA | 4 |
| 3055 | ACG | 4 (0,27 %) | spl+1 (G->A) | c.IVS61+1G>A (c.9163+1G>A) | 2 |
| | | spl+2 (T->G) | c.IVS61+2T>G (c.9163+2T>G) | 1 |
| | | spl-2 (A->G) | c.IVS61-2A>G (c.9164-2A>G) | 1 |
| 2740 | GAC | 4 (0,27 %) | spl-2 (A->G) | c.IVS55-2A>G (c.8218-2A>G) | 2 |
| | | ins1a (Stop at 2744) | c.8217dup | 1 |
| | | spl-1 (G->C) | c.IVS55-1G>C (c.8218-1G>C) | 1 |
| 2437 | TCT | 4 (0,27 %) | spl+1 (G->A) | c.IVS50+1G>A (c.7309+1G>A) | 1 |
| | | spl+2 (T->A) | c.IVS50+2T>A (c.7309+2T>A) | 1 |
| | | spl-1 (G->A) | c.IVS50-1G>A (c.7310-1G>A) | 1 |
| | | spl-2 (A->G) | c.IVS50-2A>G (c.7310-2A>G) | 1 |
| 2146 | AAG | 4 (0,27 %) | spl+1 (delG) | c.IVS44+1delG (c.6438+1delG) | 2 |
| | | spl+2 (insTT) | c.IVS44+2insTT (c.6438+2insTT) | 1 |
| | | TAG (A->T) | c.6436A>T | 1 |
| 2118 | CAG | 4 (0,27 %) | TAG (C->T) | c.6352C>T | 4 |
| 1844 | AGA | 4 (0,27 %) | TGA (A->T) | c.5530A>T | 4 |
| 1711 | CAG | 4 (0,27 %) | TAG (C->T) | c.5131C>T | 3 |
| | | del1a (Stop at 1720) | c.5131delC | 1 |
| 1615 | AAG | 4 (0,27 %) | TAG (A->T) | c.4843A>T | 3 |
| | | spl+2 (T->C) | c.IVS34+2T>C (c.4845+2T>C) | 1 |
| 1515 | GTG | 4 (0,27 %) | del5c (Stop at 1516) | c.4545_4549delGAAGT | 4 |
| 1367 | CAG | 4 (0,27 %) | TAG (C->T) | c.4099C>T | 3 |
| | | del1b (Stop at 1381) | c.4100delA | 1 |
| 1201 | AAG | 4 (0,27 %) | spl+1 (G->A) | c.IVS26+1G>A (c.3603+1G>A) | 2 |
| | | spl+2 (T->A) | c.IVS26+2T>A (c.3603+2T>A) | 2 |
| 990 | CAA | 4 (0,27 %) | TAA (C->T) | c.2968C>T | 4 |
| 956 | CAG | 4 (0,27 %) | TAG (C->T) | c.2866C>T | 4 |
| 920 | CAA | 4 (0,27 %) | TAA (C->T) | c.2758C>T | 4 |
| 767 | GAG | 4 (0,27 %) | TAG (G->T) | c.2299G>T | 4 |
| 604 | GCC | 4 (0,27 %) | spl+601 (A->G) | c.IVS15+601A>G (c.1812+601A>G) | 3 |
| | | del1c (Stop at 606) | c.1812delC | 1 |
| 551 | TGG | 4 (0,27 %) | TAG (G->A) | c.1652G>A | 2 |
| | | ins1b (Stop at 566) | c.1651dup | 1 |
| | | TGA (G->A) | c.1653G>A | 1 |
| 492 | CAA | 4 (0,27 %) | TAA (C->T) | c.1474C>T | 4 |
| 431 | TGG | 4 (0,27 %) | TAG (G->A) | c.1292G>A | 2 |
| | | ins1a (Stop at 438) | c.1290dup | 1 |
| | | TGA (G->A) | c.1293G>A | 1 |
| 373 | GAA | 4 (0,27 %) | TAA (G->T) | c.1117G>T | 3 |
| | | del13a (Stop at 382) | c.1117_1129del | 1 |
| 354 | TGG | 4 (0,27 %) | TAG (G->A) | c.1061G>A | 2 |
| | | TGA (G->A) | c.1062G>A | 2 |
| 217 | GAT | 4 (0,27 %) | spl+1 (G->T) | c.IVS7+1G>T (c.649+1G>T) | 2 |
| | | spl+2 (T->C) | c.IVS7+2T>C (c.649+2T>C) | 1 |
| | | spl+5 (G->A) | c.IVS7+5G>A (c.649+5G>A) | 1 |
| 189 | CAG | 4 (0,27 %) | TAG (C->T) | c.565C>T | 4 |
| 119 | CAG | 4 (0,27 %) | spl+1 (G->C) | c.IVS5+1G>C (c.357+1G>C) | 4 |
| 3544 | GAA | 3 (0,2 %) | ins29c (Stop at 3555) | c.10603_10631dup | 3 |
| 3332 | TTT | 3 (0,2 %) | TGT (T->G) | c.9995T>G | 2 |
| | | del1c (Stop at 3376) | c.9996delT | 1 |
| 3269 | TTT | 3 (0,2 %) | spl+4 (delA) | c.IVS67+4delA (c.9807+4delA) | 1 |
| | | spl+5 (G->A) | c.IVS67+5G>A (c.9807+5G>A) | 1 |
| | | spl+6 (T->G) | c.IVS67+6T>G (c.9807+6T>G) | 1 |
| 3135 | CAG | 3 (0,2 %) | TAG (C->T) | c.9403C>T | 3 |
| 3061 | TGG | 3 (0,2 %) | ins2a (Stop at 3089) | c.9181insGG | 1 |
| | | TAG (G->A) | c.9182G>A | 1 |
| | | TGA (G->A) | c.9183G>A | 1 |
| 2685 | GAA | 3 (0,2 %) | TAA (G->T) | c.8053G>T | 2 |
| | | del1c (Stop at 2725) | c.8055delA | 1 |
| 2625 | CAG | 3 (0,2 %) | del1a (Stop at 2637) | c.7873delC | 2 |
| | | TAG (C->T) | c.7873C>T | 1 |
| 2522 | CAG | 3 (0,2 %) | TAG (C->T) | c.7564C>T | 2 |
| | | del1b (Stop at 2537) | c.7565delA | 1 |
| 2220 | TTA | 3 (0,2 %) | TAA (T->A) | c.6659T>A | 2 |
| | | TGA (T->G) | c.6659T>G | 1 |
| 2204 | AAG | 3 (0,2 %) | ins1c (Stop at 2222) | c.6611dup | 3 |
| 1902 | AGC | 3 (0,2 %) | del4a (Stop at 1911) | c.5704_5707delAGCC | 3 |
| 1867 | CAA | 3 (0,2 %) | del1c (Stop at 1873) | c.5601delA | 2 |
| | | TAA (C->T) | c.5599C>T | 1 |
| 1855 | CAG | 3 (0,2 %) | TAG (C->T) | c.5563C>T | 2 |
| | | del4c (Stop at 1863) | c.5565_5568delGACA | 1 |
| 1835 | CAA | 3 (0,2 %) | TAA (C->T) | c.5503C>T | 2 |
| | | ins1b (Stop at 1841) | c.5503dup | 1 |
| 1757 | ATC | 3 (0,2 %) | del1a (Stop at 1780) | c.5269delA | 3 |
| 1618 | CAA | 3 (0,2 %) | TAA (C->T) | c.4852C>T | 3 |
| 1534 | CAG | 3 (0,2 %) | TAG (C->T) | c.4600C>T | 3 |
| 1501 | CAG | 3 (0,2 %) | TAG (C->T) | c.4501C>T | 3 |
| 1376 | GAA | 3 (0,2 %) | TAA (G->T) | c.4126G>T | 2 |
| | | del10a (Stop at 1378) | c.4126_4135del | 1 |
| 1256 | GGG | 3 (0,2 %) | del1c (Stop at 1282) | c.3768delG | 2 |
| | | ins1a (Stop at 1270) | c.3765dup | 1 |
| 1194 | CAG | 3 (0,2 %) | TAG (C->T) | c.3580C>T | 3 |
| 997 | TAC | 3 (0,2 %) | TAG (C->G) | c.2991C>G | 3 |
| 874 | AAG | 3 (0,2 %) | spl+1 (G->A) | c.IVS20+1G>A (c.2622+1G>A) | 2 |
| | | spl+2 (T->G) | c.IVS20+2T>G (c.2622+2T>G) | 1 |
| 853 | TTG | 3 (0,2 %) | del2c (Stop at 866) | c.2559_2560delGA | 1 |
| | | ins2c (Ins) | c.2557_2558dup | 1 |
| | | TAG (T->A) | c.2558T>A | 1 |
| 812 | TGG | 3 (0,2 %) | TAG (G->A) | c.2435G>A | 3 |
| 765 | GCC | 3 (0,2 %) | spl-1 (G->A) | c.IVS18-1G>A (c.2293-1G>A) | 2 |
| | | spl-5 (del7) | c.IVS18-5del7 (c.2293-5del7) | 1 |
| 764 | AAT | 3 (0,2 %) | spl+1 (G->A) | c.IVS18+1G>A (c.2292+1G>A) | 2 |
| | | spl+2 (T->C) | c.IVS18+2T>C (c.2292+2T>C) | 1 |
| 757 | TCA | 3 (0,2 %) | TGA (C->G) | c.2270C>G | 2 |
| | | del1c (Stop at 759) | c.2271delA | 1 |
| 744 | AGT | 3 (0,2 %) | del2a (Stop at 745) | c.2230_2231delAG | 3 |
| 743 | CAG | 3 (0,2 %) | TAG (C->T) | c.2227C>T | 2 |
| | | del4c (Stop at 758) | c.2229_2232delGAGT | 1 |
| 723 | AGG | 3 (0,2 %) | spl-2 (A->T) | c.IVS17-2A>T (c.2169-2A>T) | 2 |
| | | spl-1 (G->A) | c.IVS17-1G>A (c.2169-1G>A) | 1 |
| 673 | CAG | 3 (0,2 %) | TAG (C->T) | c.2017C>T | 2 |
| | | del11a (Stop at 715) | c.2017_2027del | 1 |
| 656 | CAA | 3 (0,2 %) | TAA (C->T) | c.1966C>T | 3 |
| 625 | CAA | 3 (0,2 %) | TAA (C->T) | c.1873C>T | 3 |
| 571 | TTT | 3 (0,2 %) | del1c (Stop at 582) | c.1713delT | 3 |
| 535 | GTA | 3 (0,2 %) | spl-1 (G->A) | c.IVS13-1G>A (c.1603-1G>A) | 3 |
| 531 | GAA | 3 (0,2 %) | TAA (G->T) | c.1591G>T | 2 |
| | | del1c (Stop at 582) | c.1593delA | 1 |
| 494 | AAG | 3 (0,2 %) | spl+1 (G->T) | c.IVS12+1G>T (c.1482+1G>T) | 2 |
| | | del2b (Stop at 517) | c.1481_1482delAG | 1 |
| 429 | TCA | 3 (0,2 %) | TAA (C->A) | c.1286C>A | 2 |
| | | TGA (C->G) | c.1286C>G | 1 |
| 363 | CAA | 3 (0,2 %) | TAA (C->T) | c.1087C>T | 3 |
| 338 | GAA | 3 (0,2 %) | del1a (Stop at 339) | c.1012delG | 3 |
| 333 | TCA | 3 (0,2 %) | TAA (C->A) | c.998C>A | 2 |
| | | TGA (C->G) | c.998C>G | 1 |
| 234 | TCA | 3 (0,2 %) | TAA (C->A) | c.701C>A | 2 |
| | | TGA (C->G) | c.701C>G | 1 |
| 151 | TAT | 3 (0,2 %) | del1a (Stop at 156) | c.451delT | 1 |
| | | TAA (T->A) | c.453T>A | 1 |
| | | TAG (T->G) | c.453T>G | 1 |
| 120 | GTC | 3 (0,2 %) | spl-1 (G->A) | c.IVS5-1G>A (c.358-1G>A) | 2 |
| | | spl-2 (A->G) | c.IVS5-2A>G (c.358-2A>G) | 1 |
| 118 | TGG | 3 (0,2 %) | TGA (G->A) | c.354G>A | 3 |
| 3637 | TCG | 2 (0,14 %) | TAG (C->A) | c.10910C>A | 2 |
| 3574 | GCC | 2 (0,14 %) | del1c (Stop at 3593) | c.10722delC | 2 |
| 3393 | GGC | 2 (0,14 %) | del1c (Stop at 3401) | c.10179delC | 1 |
| | | del8c (Stop at 3429) | c.10179_10186del | 1 |
| 3392 | ATG | 2 (0,14 %) | del1a (Stop at 3401) | c.10174delA | 2 |
| 3379 | AAA | 2 (0,14 %) | del1c (Stop at 3401) | c.10137delA | 1 |
| | | TAA (A->T) | c.10135A>T | 1 |
| 3378 | AAC | 2 (0,14 %) | del4c (Stop at 3400) | c.10134_10137delCAAA | 1 |
| | | ins1c (Stop at 3432) | c.10133dup | 1 |
| 3376 | CTA | 2 (0,14 %) | del1a (Stop at 3376) | c.10126delC | 2 |
| 3366 | GGA | 2 (0,14 %) | del3a (In frame del) | c.10096_10098delGGA | 1 |
| | | del3c (In frame del) | c.10098_10100delAGA | 1 |
| 3365 | TCA | 2 (0,14 %) | TGA (C->G) | c.10094C>G | 2 |
| 3343 | TCT | 2 (0,14 %) | del1a (Stop at 3376) | c.10027delT | 1 |
| | | ins1b (Stop at 3351) | c.10027dup | 1 |
| 3340 | TGC | 2 (0,14 %) | CGC (T->C) | c.10018T>C | 1 |
| | | del1a (Stop at 3376) | c.10018delT | 1 |
| 3320 | CCA | 2 (0,14 %) | del1b (Stop at 3329) | c.9959delC | 2 |
| 3310 | CAG | 2 (0,14 %) | TAG (C->T) | c.9928C>T | 2 |
| 3294 | TGG | 2 (0,14 %) | ins2c (Stop at 3330) | c.9880_9881dup | 2 |
| 3225 | TCA | 2 (0,14 %) | del1a (Stop at 3282) | c.9673delT | 1 |
| | | ins1a (Stop at 3230) | c.9673insG | 1 |
| 3221 | CAA | 2 (0,14 %) | del1c (Stop at 3282) | c.9663delA | 1 |
| | | TAA (C->T) | c.9661C>T | 1 |
| 3149 | CAG | 2 (0,14 %) | TAG (C->T) | c.9445C>T | 2 |
| 3116 | CAG | 2 (0,14 %) | TAG (C->T) | c.9346C>T | 2 |
| 3080 | ACA | 2 (0,14 %) | del4a (Stop at 3087) | c.9238_9241delACAA | 2 |
| 3072 | TAC | 2 (0,14 %) | TAA (C->A) | c.9216C>A | 1 |
| | | TAG (C->G) | c.9216C>G | 1 |
| 3029 | GTG | 2 (0,14 %) | spl-1 (G->A) | c.IVS60-1G>A (c.9085-1G>A) | 1 |
| | | spl-15519 (G->T) | c.IVS60-15519G>T (c.9085-15519G>T) | 1 |
| 2983 | GGA | 2 (0,14 %) | TGA (G->T) | c.8947G>T | 2 |
| 2980 | GCA | 2 (0,14 %) | del111a (In frame del) | c.8938_9048del | 2 |
| 2972 | CAA | 2 (0,14 %) | ins2a (Stop at 2989) | c.8912_8913dup | 1 |
| | | TAA (C->T) | c.8914C>T | 1 |
| 2969 | GAC | 2 (0,14 %) | del1a (Stop at 2988) | c.8905delG | 2 |
| 2948 | CTC | 2 (0,14 %) | del1c (Stop at 2955) | c.8844delC | 2 |
| 2925 | TGG | 2 (0,14 %) | TGA (G->A) | c.8775G>A | 2 |
| 2807 | TGG | 2 (0,14 %) | TAG (G->A) | c.8420G>A | 2 |
| 2792 | AAG | 2 (0,14 %) | del2a (Stop at 2796) | c.8374_8375delAA | 1 |
| | | TAG (A->T) | c.8374A>T | 1 |
| 2762 | ATC | 2 (0,14 %) | del16b (Stop at 2777) | c.8285_8300del | 1 |
| | | ins1b (Stop at 2771) | c.8284dup | 1 |
| 2755 | CTG | 2 (0,14 %) | del1a (Stop at 2763) | c.8263delC | 2 |
| 2739 | CAA | 2 (0,14 %) | spl+23 (A->G) | c.IVS55+23A>G (c.8217+23A>G) | 1 |
| | | spl+5 (G->A) | c.IVS55+5G>A (c.8217+5G>A) | 1 |
| 2732 | AAA | 2 (0,14 %) | del1c (Stop at 2734) | c.8196delA | 1 |
| | | TAA (A->T) | c.8194A>T | 1 |
| 2696 | CTG | 2 (0,14 %) | del1b (Stop at 2725) | c.8087delT | 1 |
| | | ins1b (Stop at 2709) | c.8086dup | 1 |
| 2579 | TTA | 2 (0,14 %) | TAA (T->A) | c.7736T>A | 1 |
| | | TGA (T->G) | c.7736T>G | 1 |
| 2557 | ATT | 2 (0,14 %) | del1a (Stop at 2575) | c.7669delA | 2 |
| 2505 | GAT | 2 (0,14 %) | del1a (Stop at 2509) | c.7513delG | 2 |
| 2491 | CAA | 2 (0,14 %) | TAA (C->T) | c.7471C>T | 2 |
| 2366 | CAG | 2 (0,14 %) | spl+1 (G->T) | c.IVS48+1G>T (c.7098+1G>T) | 2 |
| 2343 | TGG | 2 (0,14 %) | TAG (G->A) | c.7028G>A | 1 |
| | | TGA (G->A) | c.7029G>A | 1 |
| 2337 | TTA | 2 (0,14 %) | ins2c (Stop at 2338) | c.7009_7010dup | 1 |
| | | TGA (T->G) | c.7010T>G | 1 |
| 2325 | CAG | 2 (0,14 %) | TAG (C->T) | c.6973C>T | 2 |
| 2305 | GTT | 2 (0,14 %) | spl-2 (A->G) | c.IVS47-2A>G (c.6913-2A>G) | 1 |
| | | spl-4037 (T->G) | c.IVS47-4037T>G (c.6913-4037T>G) | 1 |
| 2302 | TGG | 2 (0,14 %) | TAG (G->A) | c.6905G>A | 1 |
| | | TGA (G->A) | c.6906G>A | 1 |
| 2283 | ATA | 2 (0,14 %) | ins1c (Stop at 2290) | c.6848dup | 1 |
| | | ins4a (Stop at 2291) | c.6843_6846dup | 1 |
| 2268 | AAA | 2 (0,14 %) | del4c (Stop at 2269) | c.6804_6807delACAA | 2 |
| 2256 | CTG | 2 (0,14 %) | TTG (C->T) | c.6766C>T | 2 |
| 2226 | TGG | 2 (0,14 %) | TAG (G->A) | c.6677G>A | 2 |
| 2144 | TAT | 2 (0,14 %) | ins1b (Stop at 2146) | c.6430dup | 1 |
| | | TAA (T->A) | c.6432T>A | 1 |
| 2141 | TAC | 2 (0,14 %) | TAA (C->A) | c.6423C>A | 1 |
| | | TAG (C->G) | c.6423C>G | 1 |
| 2085 | TGG | 2 (0,14 %) | TGA (G->A) | c.6255G>A | 2 |
| 2024 | TGT | 2 (0,14 %) | del2c (Stop at 2025) | c.6072_6073delTG | 1 |
| | | TGA (T->A) | c.6072T>A | 1 |
| 2019 | AAT | 2 (0,14 %) | del1c (Stop at 2038) | c.6057delT | 2 |
| 1990 | CCT | 2 (0,14 %) | del1b (Stop at 2001) | c.5969delC | 2 |
| 1973 | CAA | 2 (0,14 %) | TAA (C->T) | c.5917C>T | 2 |
| 1960 | GAG | 2 (0,14 %) | TAG (G->T) | c.5878G>T | 2 |
| 1949 | CAG | 2 (0,14 %) | ins14b (Ins) | c.5846ins14 ? | 1 |
| | | TAG (C->T) | c.5845C>T | 1 |
| 1924 | GAG | 2 (0,14 %) | del2b (Stop at 1930) | c.5771_5772delAG | 1 |
| | | TAG (G->T) | c.5770G>T | 1 |
| 1913 | AAG | 2 (0,14 %) | spl+18 (T->A) | c.IVS40+18T>A (c.5739+18T>A) | 1 |
| | | spl+362 (A->G) | c.IVS40+362A>G (c.5739+362A>G) | 1 |
| 1900 | TTA | 2 (0,14 %) | ins1a (Stop at 1905) | c.5697dup | 2 |
| 1899 | AAA | 2 (0,14 %) | del1c (Stop at 1900) | c.5697delA | 2 |
| 1882 | TAC | 2 (0,14 %) | TAA (C->A) | c.5646C>A | 1 |
| | | TAG (C->G) | c.5646C>G | 1 |
| 1870 | AAA | 2 (0,14 %) | TAA (A->T) | c.5608A>T | 2 |
| 1829 | CAA | 2 (0,14 %) | del2c (Stop at 1840) | c.5487_5488delAA | 1 |
| | | TAA (C->T) | c.5485C>T | 1 |
| 1826 | GAA | 2 (0,14 %) | TAA (G->T) | c.5476G>T | 2 |
| 1789 | GAT | 2 (0,14 %) | del10a (Stop at 1802) | c.5365_5374del | 1 |
| | | ins1a (Stop at 1795) | c.5364dup | 1 |
| 1788 | TCA | 2 (0,14 %) | TGA (C->G) | c.5363C>G | 2 |
| 1772 | AAG | 2 (0,14 %) | ins1a (Stop at 1772) | c.5313dup | 2 |
| 1762 | CAT | 2 (0,14 %) | del1b (Stop at 1780) | c.5285delA | 2 |
| 1752 | TTA | 2 (0,14 %) | TGA (T->G) | c.5255T>G | 2 |
| 1719 | CGT | 2 (0,14 %) | ins7a (Stop at 1728) | c.5155insAATATAG | 1 |
| | | spl-3 (T->G) | c.IVS36-3T>G (c.5155-3T>G) | 1 |
| 1714 | GAA | 2 (0,14 %) | del1a (Stop at 1720) | c.5140delG | 1 |
| | | del2a (Stop at 1717) | c.5140_5141delGA | 1 |
| 1708 | AAG | 2 (0,14 %) | del4c (Stop at 1719) | c.5124_5127delGAAA | 2 |
| 1694 | TGG | 2 (0,14 %) | TGA (G->A) | c.5082G>A | 2 |
| 1674 | TTG | 2 (0,14 %) | ins2c (Stop at 1721) | c.5020_5021dup | 1 |
| | | TAG (T->A) | c.5021T>A | 1 |
| 1652 | AAA | 2 (0,14 %) | TAA (A->T) | c.4954A>T | 2 |
| 1633 | GAG | 2 (0,14 %) | del2b (Stop at 1651) | c.4898_4899delAG | 2 |
| 1624 | CAG | 2 (0,14 %) | TAG (C->T) | c.4870C>T | 2 |
| 1619 | AAA | 2 (0,14 %) | del1c (Stop at 1628) | c.4857delA | 2 |
| 1575 | AAG | 2 (0,14 %) | del1b (Stop at 1580) | c.4724delA | 1 |
| | | TAG (A->T) | c.4723A>T | 1 |
| 1571 | AAA | 2 (0,14 %) | TAA (A->T) | c.4711A>T | 2 |
| 1564 | CAA | 2 (0,14 %) | TAA (C->T) | c.4690C>T | 2 |
| 1562 | AGA | 2 (0,14 %) | del4c (Stop at 1569) | c.4686_4689delAAAG | 2 |
| 1543 | GAA | 2 (0,14 %) | TAA (G->T) | c.4627G>T | 2 |
| 1531 | CAG | 2 (0,14 %) | TAG (C->T) | c.4591C>T | 2 |
| 1513 | AGT | 2 (0,14 %) | del4b (Stop at 1514) | c.4538_4541delGTGA | 2 |
| 1499 | CAG | 2 (0,14 %) | TAG (C->T) | c.4495C>T | 2 |
| 1495 | CAG | 2 (0,14 %) | TAG (C->T) | c.4483C>T | 2 |
| 1451 | TTA | 2 (0,14 %) | ins1a (Stop at 1468) | c.4350dup | 2 |
| 1370 | CAG | 2 (0,14 %) | TAG (C->T) | c.4108C>T | 2 |
| 1283 | AAT | 2 (0,14 %) | del1c (Stop at 1285) | c.3849delT | 2 |
| 1208 | CAA | 2 (0,14 %) | TAA (C->T) | c.3622C>T | 2 |
| 1188 | AAA | 2 (0,14 %) | TAA (A->T) | c.3562A>T | 2 |
| 1179 | GAG | 2 (0,14 %) | TAG (G->T) | c.3535G>T | 2 |
| 1144 | CAG | 2 (0,14 %) | CAT (G->T) | c.3432G>T | 1 |
| | | spl+2240 (A->G) | c.IVS25+2240A>G (c.3432+2240A>G) | 1 |
| 1092 | AGA | 2 (0,14 %) | spl+1 (G->A) | c.IVS24+1G>A (c.3276+1G>A) | 2 |
| 1074 | GAA | 2 (0,14 %) | TAA (G->T) | c.3220G>T | 2 |
| 1063 | TGG | 2 (0,14 %) | TAG (G->A) | c.3188G>A | 2 |
| 1062 | AAA | 2 (0,14 %) | TAA (A->T) | c.3184A>T | 2 |
| 1046 | CAA | 2 (0,14 %) | TAA (C->T) | c.3136C>T | 2 |
| 1041 | CAA | 2 (0,14 %) | TAA (C->T) | c.3121C>T | 2 |
| 1026 | GAG | 2 (0,14 %) | TAG (G->T) | c.3076G>T | 2 |
| 1018 | TAT | 2 (0,14 %) | del35b (Stop at 1018) | c.3053_3087del | 2 |
| 977 | CAG | 2 (0,14 %) | ins1b (Stop at 1013) | c.2929dup | 1 |
| | | TAG (C->T) | c.2929C>T | 1 |
| 957 | CAG | 2 (0,14 %) | TAG (C->T) | c.2869C>T | 2 |
| 945 | CAG | 2 (0,14 %) | del1a (Stop at 948) | c.2833delC | 1 |
| | | TAG (C->T) | c.2833C>T | 1 |
| 944 | TAT | 2 (0,14 %) | TAG (T->G) | c.2832T>G | 2 |
| 933 | CAG | 2 (0,14 %) | TAG (C->T) | c.2797C>T | 2 |
| 931 | GAG | 2 (0,14 %) | TAG (G->T) | c.2791G>T | 2 |
| 930 | AAA | 2 (0,14 %) | TAA (A->T) | c.2788A>T | 2 |
| 902 | CAA | 2 (0,14 %) | del1c (Stop at 948) | c.2706delA | 2 |
| 901 | GGA | 2 (0,14 %) | ins73c (Ins) | c.2703ins73 ? | 1 |
| | | TGA (G->T) | c.2701G>T | 1 |
| 891 | AAA | 2 (0,14 %) | del2c (Stop at 918) | c.2673_2674delAA | 1 |
| | | TAA (A->T) | c.2671A>T | 1 |
| 880 | CTA | 2 (0,14 %) | del1a (Stop at 890) | c.2638delC | 1 |
| | | ins14a (Stop at 895) | c.2624_2637dup | 1 |
| 875 | GAT | 2 (0,14 %) | spl-3 (C->G) | c.IVS20-3C>G (c.2623-3C>G) | 2 |
| 869 | CAG | 2 (0,14 %) | TAG (C->T) | c.2605C>T | 2 |
| 868 | AGT | 2 (0,14 %) | GGT (A->G) | c.2602A>G | 2 |
| 867 | AAA | 2 (0,14 %) | del1c (Stop at 870) | c.2601delA | 1 |
| | | del2c (Stop at 873) | c.2601_2602delAA | 1 |
| 816 | TGC | 2 (0,14 %) | TGA (C->A) | c.2448C>A | 2 |
| 794 | GAG | 2 (0,14 %) | spl+2 (T->C) | c.IVS19+2T>C (c.2380+2T>C) | 1 |
| | | spl-2 (A->G) | c.IVS19-2A>G (c.2381-2A>G) | 1 |
| 789 | GAA | 2 (0,14 %) | TAA (G->T) | c.2365G>T | 2 |
| 693 | CAG | 2 (0,14 %) | TAG (C->T) | c.2077C>T | 2 |
| 692 | GAA | 2 (0,14 %) | ins1b (Stop at 719) | c.2074dup | 1 |
| | | TAA (G->T) | c.2074G>T | 1 |
| 665 | ATT | 2 (0,14 %) | del8a (Stop at 716) | c.1993_2000del | 1 |
| | | spl-3 (C->G) | c.IVS16-3C>G (c.1993-3C>G) | 1 |
| 664 | CAG | 2 (0,14 %) | spl+1 (G->T) | c.IVS16+1G>T (c.1992+1G>T) | 1 |
| | | TAG (C->T) | c.1990C>T | 1 |
| 615 | CAA | 2 (0,14 %) | TAA (C->T) | c.1843C>T | 2 |
| 594 | AAT | 2 (0,14 %) | del1b (Stop at 606) | c.1781delA | 2 |
| 588 | ACT | 2 (0,14 %) | del1a (Stop at 606) | c.1762delA | 1 |
| | | ins2a (Stop at 607) | c.1760_1761dup | 1 |
| 573 | GCA | 2 (0,14 %) | del1a (Stop at 582) | c.1717delG | 1 |
| | | del1c (Stop at 582) | c.1719delA | 1 |
| 568 | CAG | 2 (0,14 %) | TAG (C->T) | c.1702C>T | 2 |
| 562 | CAA | 2 (0,14 %) | del1a (Stop at 582) | c.1684delC | 1 |
| | | TAA (C->T) | c.1684C>T | 1 |
| 515 | GTG | 2 (0,14 %) | ins1b (Stop at 518) | c.1543dup | 1 |
| | | ins1c (Stop at 518) | c.1544dup | 1 |
| 489 | CAA | 2 (0,14 %) | TAA (C->T) | c.1465C>T | 2 |
| 476 | GAA | 2 (0,14 %) | ins1b (Stop at 482) | c.1426dup | 1 |
| | | TAA (G->T) | c.1426G>T | 1 |
| 463 | TGG | 2 (0,14 %) | TAG (G->A) | c.1388G>A | 2 |
| 459 | GAG | 2 (0,14 %) | TAG (G->T) | c.1375G>T | 2 |
| 432 | GAA | 2 (0,14 %) | ins1b (Stop at 438) | c.1294dup | 2 |
| 383 | GAG | 2 (0,14 %) | spl+1 (G->T) | c.IVS10+1G>T (c.1149+1G>T) | 2 |
| 365 | CAA | 2 (0,14 %) | TAA (C->T) | c.1093C>T | 2 |
| 323 | GAA | 2 (0,14 %) | del1a (Stop at 334) | c.967delG | 1 |
| | | ins1b (Stop at 326) | c.967dup | 1 |
| 319 | TCA | 2 (0,14 %) | del1a (Stop at 334) | c.955delT | 1 |
| | | TGA (C->G) | c.956C>G | 1 |
| 278 | ATC | 2 (0,14 %) | spl-15 (A->G) | c.IVS8-15A>G (c.832-15A>G) | 2 |
| 277 | CAG | 2 (0,14 %) | spl+2 (T->C) | c.IVS8+2T>C (c.831+2T>C) | 1 |
| | | TAG (C->T) | c.829C>T | 1 |
| 276 | CAA | 2 (0,14 %) | TAA (C->T) | c.826C>T | 2 |
| 249 | CAG | 2 (0,14 %) | TAG (C->T) | c.745C>T | 2 |
| 242 | CAA | 2 (0,14 %) | TAA (C->T) | c.724C>T | 2 |
| 241 | CAA | 2 (0,14 %) | TAA (C->T) | c.721C>T | 2 |
| 229 | TTA | 2 (0,14 %) | TGA (T->G) | c.686T>G | 2 |
| 205 | TAT | 2 (0,14 %) | TAA (T->A) | c.615T>A | 2 |
| 190 | CAG | 2 (0,14 %) | TAG (C->T) | c.568C>T | 2 |
| 153 | CAG | 2 (0,14 %) | TAG (C->T) | c.457C>T | 2 |
| 147 | TCA | 2 (0,14 %) | TAA (C->A) | c.440C>A | 1 |
| | | TGA (C->G) | c.440C>G | 1 |
| 133 | CAA | 2 (0,14 %) | TAA (C->T) | c.397C>T | 2 |
| 123 | GTA | 2 (0,14 %) | del2a (Stop at 136) | c.367_368delGT | 1 |
| | | ins1c (Stop at 137) | c.368dup | 1 |
| 112 | TGG | 2 (0,14 %) | TGA (G->A) | c.336G>A | 2 |
| 80 | GCA | 2 (0,14 %) | ins1a (Stop at 88) | c.238insA | 1 |
| | | ins1b (Stop at 88) | c.238dup | 1 |
| 66 | AAA | 2 (0,14 %) | del1c (Stop at 74) | c.198delA | 1 |
| | | TAA (A->T) | c.196A>T | 1 |
| 62 | CTG | 2 (0,14 %) | ins1a (Stop at 88) | c.183dup | 1 |
| | | spl+1 (G->A) | c.IVS3+1G>A (c.186+1G>A) | 1 |
| 60 | CAA | 2 (0,14 %) | ins1a (Stop at 88) | c.177dup | 1 |
| | | TAA (C->T) | c.178C>T | 1 |
| 45 | CAG | 2 (0,14 %) | del1b (Stop at 51) | c.134delA | 1 |
| | | TAG (C->T) | c.133C>T | 1 |
| 3551 | CAG | 1 (0,07 %) | TAG (C->T) | c.10651C>T | 1 |
| 3542 | CCT | 1 (0,07 %) | del2a (Stop at 3543) | c.10624_10625delCC | 1 |
| 3535 | GGC | 1 (0,07 %) | ins1a (Stop at 3544) | c.10602dup | 1 |
| 3530 | CAG | 1 (0,07 %) | TAG (C->T) | c.10588C>T | 1 |
| 3524 | TAT | 1 (0,07 %) | TAA (T->A) | c.10572T>A | 1 |
| 3500 | AGT | 1 (0,07 %) | del2c (Stop at 3513) | c.10500_10501delTG | 1 |
| 3497 | TCC | 1 (0,07 %) | del1a (Stop at 3498) | c.10489delT | 1 |
| 3493 | CAG | 1 (0,07 %) | del1b (Stop at 3495) | c.10478delA | 1 |
| 3475 | TAC | 1 (0,07 %) | TAA (C->A) | c.10425C>A | 1 |
| 3440 | TAT | 1 (0,07 %) | TAA (T->A) | c.10320T>A | 1 |
| 3383 | AAA | 1 (0,07 %) | TAA (A->T) | c.10147A>T | 1 |
| 3367 | GAA | 1 (0,07 %) | del3c (In frame del) | c.10101_10103delAGA | 1 |
| 3363 | ACT | 1 (0,07 %) | spl-2 (A->T) | c.IVS69-2A>T (c.10087-2A>T) | 1 |
| 3358 | GAA | 1 (0,07 %) | TAA (G->T) | c.10072G>T | 1 |
| 3337 | TGC | 1 (0,07 %) | TAC (G->A) | c.10010G>A | 1 |
| 3335 | GAC | 1 (0,07 %) | TAC (G->T) | c.10003G>T | 1 |
| 3319 | TGT | 1 (0,07 %) | CGT (T->C) | c.9955T>C | 1 |
| 3316 | TGC | 1 (0,07 %) | TGA (C->A) | c.9948C>A | 1 |
| 3296 | CCC | 1 (0,07 %) | del22b (Stop at 3322) | c.9887_9908del | 1 |
| 3290 | CAG | 1 (0,07 %) | TAG (C->T) | c.9868C>T | 1 |
| 3288 | GAA | 1 (0,07 %) | del1a (Stop at 3329) | c.9862delG | 1 |
| 3284 | TGG | 1 (0,07 %) | TAG (G->A) | c.9851G>A | 1 |
| 3273 | AAG | 1 (0,07 %) | ins1a (Stop at 3273) | c.9816dup | 1 |
| 3270 | GCT | 1 (0,07 %) | ins2a (Stop at 3283) | c.9806_9807dup | 1 |
| 3261 | CCA | 1 (0,07 %) | del2c (Stop at 3270) | c.9783_9784delAA | 1 |
| 3250 | GAA | 1 (0,07 %) | TAA (G->T) | c.9748G>T | 1 |
| 3231 | CAG | 1 (0,07 %) | TAG (C->T) | c.9691C>T | 1 |
| 3202 | GGC | 1 (0,07 %) | ins13b (Stop at 3204) | c.9592_9604dup | 1 |
| 3195 | CGT | 1 (0,07 %) | ins2b (Stop at 3283) | c.9584insAT | 1 |
| 3174 | TGC | 1 (0,07 %) | TGA (C->A) | c.9522C>A | 1 |
| 3151 | ATT | 1 (0,07 %) | del1a (Stop at 3154) | c.9451delA | 1 |
| 3134 | GAC | 1 (0,07 %) | ins1b (Stop at 3142) | c.9400dup | 1 |
| 3124 | TTG | 1 (0,07 %) | del2a (Stop at 3130) | c.9370_9371delTT | 1 |
| 3111 | AAA | 1 (0,07 %) | del1c (Stop at 3124) | c.9333delA | 1 |
| 3110 | ATG | 1 (0,07 %) | del10a (Stop at 3121) | c.9328_9337del | 1 |
| 3107 | AGG | 1 (0,07 %) | ins2b (Stop at 3111) | c.9320insAA | 1 |
| 3096 | GCT | 1 (0,07 %) | spl+2 (T->A) | c.IVS63+2T>A (c.9286+2T>A) | 1 |
| 3092 | TAC | 1 (0,07 %) | TAA (C->A) | c.9276C>A | 1 |
| 3090 | GAG | 1 (0,07 %) | del2b (Stop at 3096) | c.9269_9270delAG | 1 |
| 3079 | CAA | 1 (0,07 %) | TAA (C->T) | c.9235C>T | 1 |
| 3058 | CAG | 1 (0,07 %) | del1b (Stop at 3088) | c.9173delA | 1 |
| 3054 | TCC | 1 (0,07 %) | del1a (Stop at 3088) | c.9160delT | 1 |
| 3053 | CTT | 1 (0,07 %) | ins1a (Stop at 3097) | c.9156dup | 1 |
| 3050 | CAG | 1 (0,07 %) | TAG (C->T) | c.9148C>T | 1 |
| 3044 | GAC | 1 (0,07 %) | del17b (Stop at 3091) | c.9131_9147del | 1 |
| 3035 | GTC | 1 (0,07 %) | ins7b (Stop at 3042) | c.9097_9103dup | 1 |
| 3010 | TCA | 1 (0,07 %) | ins1b (Stop at 3013) | c.9028dup | 1 |
| 2986 | GCG | 1 (0,07 %) | ins1a (Stop at 2997) | c.8955dup | 1 |
| 2977 | AAA | 1 (0,07 %) | del4a (Stop at 2987) | c.8929_8932delAAAG | 1 |
| 2976 | GAG | 1 (0,07 %) | TAG (G->T) | c.8926G>T | 1 |
| 2974 | CAC | 1 (0,07 %) | del1a (Stop at 2988) | c.8920delC | 1 |
| 2971 | CTC | 1 (0,07 %) | del2a (Stop at 2996) | c.8911_8912delCT | 1 |
| 2952 | CAA | 1 (0,07 %) | ins22b (Stop at 2961) | c.8833_8854dup | 1 |
| 2941 | GAG | 1 (0,07 %) | ins13b (Stop at 2949) | c.8822ins13 | 1 |
| 2940 | CAA | 1 (0,07 %) | TAA (C->T) | c.8818C>T | 1 |
| 2937 | CAG | 1 (0,07 %) | TAG (C->T) | c.8809C>T | 1 |
| 2936 | CTC | 1 (0,07 %) | del2b (Stop at 2944) | c.8807_8808delTC | 1 |
| 2931 | GAG | 1 (0,07 %) | TAG (G->T) | c.8791G>T | 1 |
| 2926 | CAG | 1 (0,07 %) | TAG (C->T) | c.8776C>T | 1 |
| 2918 | TTG | 1 (0,07 %) | del1c (Stop at 2929) | c.8754delG | 1 |
| 2915 | TGG | 1 (0,07 %) | TGA (G->A) | c.8745G>A | 1 |
| 2910 | GAG | 1 (0,07 %) | TAG (G->T) | c.8728G>T | 1 |
| 2907 | CAG | 1 (0,07 %) | TAG (C->T) | c.8719C>T | 1 |
| 2884 | CTC | 1 (0,07 %) | del5b (Stop at 2892) | c.8651_8655delTCTAC | 1 |
| 2869 | GTA | 1 (0,07 %) | del2a (Stop at 2893) | c.8605_8606delGT | 1 |
| 2854 | GAA | 1 (0,07 %) | TAA (G->T) | c.8560G>T | 1 |
| 2831 | CAG | 1 (0,07 %) | TAG (C->T) | c.8491C>T | 1 |
| 2827 | GAA | 1 (0,07 %) | TAA (G->T) | c.8479G>T | 1 |
| 2820 | TGG | 1 (0,07 %) | TAG (G->A) | c.8459G>A | 1 |
| 2815 | CAG | 1 (0,07 %) | TAG (C->T) | c.8443C>T | 1 |
| 2813 | TCT | 1 (0,07 %) | del1b (Stop at 2823) | c.8438delC | 1 |
| 2806 | CAG | 1 (0,07 %) | TAG (C->T) | c.8416C>T | 1 |
| 2798 | TCC | 1 (0,07 %) | del11a (Stop at 2801) | c.8392_8402del | 1 |
| 2785 | AAG | 1 (0,07 %) | del16a (Stop at 2818) | c.8353_8368del | 1 |
| 2767 | GAA | 1 (0,07 %) | TAA (G->T) | c.8299G>T | 1 |
| 2753 | CAC | 1 (0,07 %) | del1c (Stop at 2763) | c.8259delC | 1 |
| 2742 | CAA | 1 (0,07 %) | TAA (C->T) | c.8224C>T | 1 |
| 2738 | TGG | 1 (0,07 %) | TGA (G->A) | c.8214G>A | 1 |
| 2737 | CAA | 1 (0,07 %) | ins2c (Stop at 2764) | c.8209_8210dup | 1 |
| 2726 | GAA | 1 (0,07 %) | TAA (G->T) | c.8176G>T | 1 |
| 2724 | CTC | 1 (0,07 %) | ins1c (Stop at 2744) | c.8171dup | 1 |
| 2721 | AAG | 1 (0,07 %) | TAG (A->T) | c.8161A>T | 1 |
| 2692 | CAA | 1 (0,07 %) | TAA (C->T) | c.8074C>T | 1 |
| 2690 | TTA | 1 (0,07 %) | del1b (Stop at 2725) | c.8069delT | 1 |
| 2678 | AGT | 1 (0,07 %) | del4c (Stop at 2724) | c.8034_8037delTGAG | 1 |
| 2641 | AAT | 1 (0,07 %) | del1c (Stop at 2645) | c.7923delT | 1 |
| 2634 | CAG | 1 (0,07 %) | del1b (Stop at 2637) | c.7901delA | 1 |
| 2632 | CAG | 1 (0,07 %) | TAG (C->T) | c.7894C>T | 1 |
| 2631 | CGC | 1 (0,07 %) | ins1b (Stop at 2642) | c.7891dup | 1 |
| 2626 | TTG | 1 (0,07 %) | del11b (Stop at 2638) | c.7877_7887del | 1 |
| 2624 | AAG | 1 (0,07 %) | del2b (Stop at 2641) | c.7871_7872delAG | 1 |
| 2620 | ATC | 1 (0,07 %) | ins1b (Stop at 2642) | c.7858dup | 1 |
| 2612 | ACA | 1 (0,07 %) | ins1a (Stop at 2642) | c.7833dup | 1 |
| 2611 | TAT | 1 (0,07 %) | del1b (Stop at 2613) | c.7832delA | 1 |
| 2609 | GGT | 1 (0,07 %) | ins1c (Stop at 2642) | c.7826dup | 1 |
| 2605 | TCA | 1 (0,07 %) | TGA (C->G) | c.7814C>G | 1 |
| 2600 | AGA | 1 (0,07 %) | ins2b (Stop at 2614) | c.7797_7798dup | 1 |
| 2596 | TTA | 1 (0,07 %) | del1b (Stop at 2596) | c.7787delT | 1 |
| 2590 | GAA | 1 (0,07 %) | del4a (Stop at 2595) | c.7768_7771delGAAG | 1 |
| 2585 | TGG | 1 (0,07 %) | TGA (G->A) | c.7755G>A | 1 |
| 2580 | AAG | 1 (0,07 %) | del1b (Stop at 2596) | c.7739delA | 1 |
| 2572 | AGG | 1 (0,07 %) | del1a (Stop at 2575) | c.7714delA | 1 |
| 2566 | GAA | 1 (0,07 %) | TAA (G->T) | c.7696G>T | 1 |
| 2563 | GAA | 1 (0,07 %) | del1c (Stop at 2575) | c.7689delA | 1 |
| 2562 | GAT | 1 (0,07 %) | del17c (Stop at 2571) | c.7686_7702del | 1 |
| 2558 | CAG | 1 (0,07 %) | TAG (C->T) | c.7672C>T | 1 |
| 2556 | AGA | 1 (0,07 %) | ins2a (Stop at 2576) | c.7666insGA | 1 |
| 2544 | CAA | 1 (0,07 %) | TAA (C->T) | c.7630C>T | 1 |
| 2540 | AAG | 1 (0,07 %) | ins1b (Stop at 2547) | c.7619insG | 1 |
| 2526 | CAG | 1 (0,07 %) | TAG (C->T) | c.7576C>T | 1 |
| 2518 | CAG | 1 (0,07 %) | del1a (Stop at 2537) | c.7552delC | 1 |
| 2515 | GCA | 1 (0,07 %) | del99a (In frame del) | c.7543_7641del | 1 |
| 2485 | TGG | 1 (0,07 %) | ins1b (Stop at 2490) | c.7453dup | 1 |
| 2483 | ACC | 1 (0,07 %) | del1c (Stop at 2493) | c.7449delC | 1 |
| 2469 | GTA | 1 (0,07 %) | ins1c (Stop at 2490) | c.7406dup | 1 |
| 2467 | TTG | 1 (0,07 %) | del56a (Stop at 2471) | c.7399_7454del | 1 |
| 2464 | TCC | 1 (0,07 %) | del1c (Stop at 2465) | c.7392delC | 1 |
| 2460 | GAA | 1 (0,07 %) | TAA (G->T) | c.7378G>T | 1 |
| 2447 | CAA | 1 (0,07 %) | del2a (Stop at 2451) | c.7339_7340delCA | 1 |
| 2443 | ACT | 1 (0,07 %) | del2a (Stop at 2451) | c.7327_7328delAC | 1 |
| 2431 | CTG | 1 (0,07 %) | del5b (Stop at 2450) | c.7292_7296delTGACC | 1 |
| 2427 | CTA | 1 (0,07 %) | ins1b (Stop at 2452) | c.7279dup | 1 |
| 2422 | GCA | 1 (0,07 %) | del1b (Stop at 2427) | c.7265delC | 1 |
| 2416 | TTA | 1 (0,07 %) | del1b (Stop at 2420) | c.7247delT | 1 |
| 2414 | AAC | 1 (0,07 %) | del1b (Stop at 2420) | c.7241delA | 1 |
| 2410 | TGG | 1 (0,07 %) | TAG (G->A) | c.7229G>A | 1 |
| 2401 | AGG | 1 (0,07 %) | spl-3 (A->G) | c.IVS49-3A>G (c.7201-3A>G) | 1 |
| 2394 | CCA | 1 (0,07 %) | del1b (Stop at 2399) | c.7181delC | 1 |
| 2370 | ATA | 1 (0,07 %) | del1b (Stop at 2399) | c.7109delT | 1 |
| 2354 | TAT | 1 (0,07 %) | del1a (Stop at 2370) | c.7060delT | 1 |
| 2351 | TTG | 1 (0,07 %) | del23c (Stop at 2356) | c.7053_7075del | 1 |
| 2336 | CAG | 1 (0,07 %) | TAG (C->T) | c.7006C>T | 1 |
| 2329 | AAG | 1 (0,07 %) | del1b (Stop at 2337) | c.6986delA | 1 |
| 2327 | GAA | 1 (0,07 %) | del1b (Stop at 2337) | c.6980delA | 1 |
| 2321 | AAA | 1 (0,07 %) | del1c (Stop at 2337) | c.6963delA | 1 |
| 2317 | GAA | 1 (0,07 %) | TAA (G->T) | c.6949G>T | 1 |
| 2316 | ATT | 1 (0,07 %) | ins1b (Stop at 2317) | c.6946dup | 1 |
| 2308 | GCT | 1 (0,07 %) | del11b (Stop at 2313) | c.6923_6933del | 1 |
| 2294 | AAG | 1 (0,07 %) | TAG (A->T) | c.6880A>T | 1 |
| 2281 | GCT | 1 (0,07 %) | ins4c (Stop at 2291) | c.6843insATGG | 1 |
| 2269 | CAA | 1 (0,07 %) | del1a (Stop at 2270) | c.6805delC | 1 |
| 2265 | GGA | 1 (0,07 %) | del1b (Stop at 2270) | c.6794delG | 1 |
| 2254 | AAG | 1 (0,07 %) | spl+2 (T->C) | c.IVS46+2T>C (c.6762+2T>C) | 1 |
| 2252 | CAA | 1 (0,07 %) | ins1b (Stop at 2272) | c.6754dup | 1 |
| 2249 | AAG | 1 (0,07 %) | del1b (Stop at 2270) | c.6746delA | 1 |
| 2248 | GAA | 1 (0,07 %) | TAA (G->T) | c.6742G>T | 1 |
| 2245 | CAA | 1 (0,07 %) | TAA (C->T) | c.6733C>T | 1 |
| 2240 | CCT | 1 (0,07 %) | del1c (Stop at 2246) | c.6720delT | 1 |
| 2186 | GGA | 1 (0,07 %) | del1b (Stop at 2188) | c.6557delG | 1 |
| 2185 | TTG | 1 (0,07 %) | ins1c (Stop at 2222) | c.6554dup | 1 |
| 2184 | AAA | 1 (0,07 %) | TAA (A->T) | c.6550A>T | 1 |
| 2176 | ACA | 1 (0,07 %) | del1a (Stop at 2188) | c.6526delA | 1 |
| 2168 | GAA | 1 (0,07 %) | TAA (G->T) | c.6502G>T | 1 |
| 2167 | GAA | 1 (0,07 %) | TAA (G->T) | c.6499G>T | 1 |
| 2155 | CGG | 1 (0,07 %) | TGG (C->T) | c.6463C>T | 1 |
| 2153 | GGG | 1 (0,07 %) | del3b (In frame del) | c.6458_6460delGGC | 1 |
| 2147 | GAA | 1 (0,07 %) | TAA (G->T) | c.6439G>T | 1 |
| 2129 | AAG | 1 (0,07 %) | del4a (Stop at 2161) | c.6385_6388delAAGA | 1 |
| 2125 | CAG | 1 (0,07 %) | TAG (C->T) | c.6373C>T | 1 |
| 2122 | GAA | 1 (0,07 %) | TAA (G->T) | c.6364G>T | 1 |
| 2119 | TGG | 1 (0,07 %) | TAG (G->A) | c.6356G>A | 1 |
| 2114 | AAG | 1 (0,07 %) | TAG (A->T) | c.6340A>T | 1 |
| 2106 | TGG | 1 (0,07 %) | del1a (Stop at 2113) | c.6316delT | 1 |
| 2096 | CAA | 1 (0,07 %) | del1c (Stop at 2113) | c.6288delA | 1 |
| 2092 | TAC | 1 (0,07 %) | TAG (C->G) | c.6276C>G | 1 |
| 2084 | CAA | 1 (0,07 %) | TAA (C->T) | c.6250C>T | 1 |
| 2080 | CAG | 1 (0,07 %) | TAG (C->T) | c.6238C>T | 1 |
| 2075 | CAG | 1 (0,07 %) | TAG (C->T) | c.6223C>T | 1 |
| 2067 | ACG | 1 (0,07 %) | del1b (Stop at 2072) | c.6200delC | 1 |
| 2046 | CAA | 1 (0,07 %) | TAA (C->T) | c.6136C>T | 1 |
| 2040 | AAT | 1 (0,07 %) | spl-1 (G->A) | c.IVS42-1G>A (c.6118-1G>A) | 1 |
| 1995 | TAT | 1 (0,07 %) | TAG (T->G) | c.5985T>G | 1 |
| 1994 | TCT | 1 (0,07 %) | del1b (Stop at 2001) | c.5981delC | 1 |
| 1989 | ATG | 1 (0,07 %) | ins1a (Stop at 2003) | c.5965insT | 1 |
| 1986 | ACT | 1 (0,07 %) | del2b (Stop at 2002) | c.5957_5958delCT | 1 |
| 1958 | GAA | 1 (0,07 %) | TAA (G->T) | c.5872G>T | 1 |
| 1956 | TGG | 1 (0,07 %) | TGA (G->A) | c.5868G>A | 1 |
| 1946 | GAG | 1 (0,07 %) | TAG (G->T) | c.5836G>T | 1 |
| 1934 | GAG | 1 (0,07 %) | del7a (Stop at 1980) | c.5800_5806del | 1 |
| 1923 | AAA | 1 (0,07 %) | del4b (Stop at 1925) | c.5768_5771delAAGA | 1 |
| 1922 | AAG | 1 (0,07 %) | del5c (Stop at 1929) | c.5766_5770delGAAAG | 1 |
| 1920 | CAG | 1 (0,07 %) | TAG (C->T) | c.5758C>T | 1 |
| 1916 | GAT | 1 (0,07 %) | del11b (Stop at 1927) | c.5747_5757del | 1 |
| 1901 | GCC | 1 (0,07 %) | ins1a (Stop at 1905) | c.5700dup | 1 |
| 1888 | GAT | 1 (0,07 %) | del1a (Stop at 1890) | c.5662delG | 1 |
| 1885 | CAG | 1 (0,07 %) | TAG (C->T) | c.5653C>T | 1 |
| 1879 | TGG | 1 (0,07 %) | TGA (G->A) | c.5637G>A | 1 |
| 1874 | GAA | 1 (0,07 %) | TAA (G->T) | c.5620G>T | 1 |
| 1869 | AGA | 1 (0,07 %) | del4a (Stop at 1872) | c.5605_5608delAGAA | 1 |
| 1865 | AGG | 1 (0,07 %) | ins1a (Stop at 1887) | c.5592dup | 1 |
| 1852 | CAG | 1 (0,07 %) | TAG (C->T) | c.5554C>T | 1 |
| 1845 | GAG | 1 (0,07 %) | TAG (G->T) | c.5533G>T | 1 |
| 1825 | AAA | 1 (0,07 %) | del1c (Stop at 1847) | c.5475delA | 1 |
| 1817 | AAT | 1 (0,07 %) | spl-3 (C->G) | c.IVS38-3C>G (c.5449-3C>G) | 1 |
| 1815 | GAT | 1 (0,07 %) | GGT (A->G) | c.5444A>G | 1 |
| 1813 | AAT | 1 (0,07 %) | ins4b (Stop at 1815) | c.5434_5437dup | 1 |
| 1805 | GTG | 1 (0,07 %) | del1a (Stop at 1805) | c.5413delG | 1 |
| 1795 | GAA | 1 (0,07 %) | del4c (Stop at 1804) | c.5385_5388delACCA | 1 |
| 1794 | CTT | 1 (0,07 %) | del1c (Stop at 1805) | c.5382delT | 1 |
| 1793 | TTG | 1 (0,07 %) | del2b (Stop at 1794) | c.5378_5379delTG | 1 |
| 1785 | CAG | 1 (0,07 %) | TAG (C->T) | c.5353C>T | 1 |
| 1780 | TTG | 1 (0,07 %) | del1b (Stop at 1780) | c.5339delT | 1 |
| 1770 | AGA | 1 (0,07 %) | TGA (A->T) | c.5308A>T | 1 |
| 1768 | TCA | 1 (0,07 %) | ins4b (Stop at 1773) | c.5299_5302dup | 1 |
| 1758 | TCA | 1 (0,07 %) | del2a (Stop at 1771) | c.5272_5273delTC | 1 |
| 1737 | CAA | 1 (0,07 %) | TAA (C->T) | c.5209C>T | 1 |
| 1733 | TCT | 1 (0,07 %) | del11c (Stop at 1743) | c.5199_5209del | 1 |
| 1723 | GAA | 1 (0,07 %) | TAA (G->T) | c.5167G>T | 1 |
| 1720 | TTA | 1 (0,07 %) | TGA (T->G) | c.5159T>G | 1 |
| 1713 | AAA | 1 (0,07 %) | del1c (Stop at 1720) | c.5139delA | 1 |
| 1706 | GAG | 1 (0,07 %) | del2c (Stop at 1717) | c.5118_5119delGA | 1 |
| 1705 | TCA | 1 (0,07 %) | TGA (C->G) | c.5114C>G | 1 |
| 1697 | CAG | 1 (0,07 %) | TAG (C->T) | c.5089C>T | 1 |
| 1693 | AAG | 1 (0,07 %) | del1b (Stop at 1720) | c.5078delA | 1 |
| 1684 | TTT | 1 (0,07 %) | del1c (Stop at 1720) | c.5052delT | 1 |
| 1683 | ACT | 1 (0,07 %) | del1b (Stop at 1720) | c.5048delC | 1 |
| 1682 | GAA | 1 (0,07 %) | TAA (G->T) | c.5044G>T | 1 |
| 1680 | CAC | 1 (0,07 %) | del2c (Stop at 1684) | c.5040_5041delCA | 1 |
| 1676 | GAA | 1 (0,07 %) | spl-2 (A->G) | c.IVS35-2A>G (c.5026-2A>G) | 1 |
| 1668 | GAA | 1 (0,07 %) | ins2a (Stop at 1672) | c.5000_5001dup | 1 |
| 1660 | TGG | 1 (0,07 %) | del1c (Stop at 1660) | c.4980delG | 1 |
| 1651 | GAT | 1 (0,07 %) | del1a (Stop at 1656) | c.4951delG | 1 |
| 1636 | GAG | 1 (0,07 %) | del44a (Stop at 1637) | c.4906_4949del | 1 |
| 1635 | GGA | 1 (0,07 %) | del8b (Stop at 1649) | c.4904_4911del | 1 |
| 1617 | ACT | 1 (0,07 %) | del20c (Stop at 1645) | c.4851_4870del | 1 |
| 1616 | GCT | 1 (0,07 %) | spl-1469 (A->G) | c.IVS34-1469A>G (c.4846-1469A>G) | 1 |
| 1614 | GGA | 1 (0,07 %) | del1b (Stop at 1628) | c.4841delG | 1 |
| 1593 | GAA | 1 (0,07 %) | TAA (G->T) | c.4777G>T | 1 |
| 1586 | TGG | 1 (0,07 %) | TGA (G->A) | c.4758G>A | 1 |
| 1579 | GAA | 1 (0,07 %) | TAA (G->T) | c.4735G>T | 1 |
| 1568 | AAA | 1 (0,07 %) | TAA (A->T) | c.4702A>T | 1 |
| 1565 | CAG | 1 (0,07 %) | TAG (C->T) | c.4693C>T | 1 |
| 1559 | GTA | 1 (0,07 %) | del1a (Stop at 1559) | c.4675delG | 1 |
| 1556 | GGA | 1 (0,07 %) | TGA (G->T) | c.4666G>T | 1 |
| 1548 | TTG | 1 (0,07 %) | del1b (Stop at 1548) | c.4643delT | 1 |
| 1546 | ACA | 1 (0,07 %) | del1c (Stop at 1548) | c.4638delA | 1 |
| 1524 | AAG | 1 (0,07 %) | TAG (A->T) | c.4570A>T | 1 |
| 1514 | GAA | 1 (0,07 %) | TAA (G->T) | c.4540G>T | 1 |
| 1512 | CTG | 1 (0,07 %) | del2b (Stop at 1513) | c.4535_4536delTG | 1 |
| 1509 | TAT | 1 (0,07 %) | TAA (T->A) | c.4527T>A | 1 |
| 1508 | TTG | 1 (0,07 %) | del1b (Stop at 1512) | c.4523delT | 1 |
| 1500 | TCA | 1 (0,07 %) | TAA (C->A) | c.4499C>A | 1 |
| 1493 | GTG | 1 (0,07 %) | del2a (Stop at 1509) | c.4477_4478delGT | 1 |
| 1491 | AAG | 1 (0,07 %) | del2a (Stop at 1509) | c.4471_4472delAA | 1 |
| 1486 | CCT | 1 (0,07 %) | del1b (Stop at 1497) | c.4457delC | 1 |
| 1481 | GTG | 1 (0,07 %) | del1c (Stop at 1497) | c.4443delG | 1 |
| 1472 | CAA | 1 (0,07 %) | TAA (C->T) | c.4414C>T | 1 |
| 1462 | CAG | 1 (0,07 %) | TAG (C->T) | c.4384C>T | 1 |
| 1455 | TCC | 1 (0,07 %) | ins1b (Stop at 1468) | c.4363dup | 1 |
| 1452 | CAA | 1 (0,07 %) | TAA (C->T) | c.4354C>T | 1 |
| 1450 | AAA | 1 (0,07 %) | del1c (Stop at 1456) | c.4350delA | 1 |
| 1444 | ATT | 1 (0,07 %) | del4c (Stop at 1455) | c.4332_4335delTGAT | 1 |
| 1438 | CAA | 1 (0,07 %) | TAA (C->T) | c.4312C>T | 1 |
| 1430 | CAT | 1 (0,07 %) | del2c (Stop at 1444) | c.4290_4291delTA | 1 |
| 1419 | AGT | 1 (0,07 %) | AGA (T->A) | c.4257T>A | 1 |
| 1411 | CAG | 1 (0,07 %) | TAG (C->T) | c.4231C>T | 1 |
| 1400 | AAG | 1 (0,07 %) | TAG (A->T) | c.4198A>T | 1 |
| 1387 | ACA | 1 (0,07 %) | del1b (Stop at 1417) | c.4160delC | 1 |
| 1383 | CAG | 1 (0,07 %) | TAG (C->T) | c.4147C>T | 1 |
| 1373 | CAG | 1 (0,07 %) | TAG (C->T) | c.4117C>T | 1 |
| 1363 | AAG | 1 (0,07 %) | del2a (Stop at 1365) | c.4087_4088delAA | 1 |
| 1362 | CAA | 1 (0,07 %) | TAA (C->T) | c.4084C>T | 1 |
| 1344 | CTT | 1 (0,07 %) | TTT (C->T) | c.4030C>T | 1 |
| 1316 | TCA | 1 (0,07 %) | del2b (Stop at 1316) | c.3947_3948delCA | 1 |
| 1315 | CAT | 1 (0,07 %) | del4c (Stop at 1329) | c.3945_3948delTTCA | 1 |
| 1305 | GTG | 1 (0,07 %) | ins1c (Stop at 1310) | c.3914dup | 1 |
| 1298 | GGA | 1 (0,07 %) | del1c (Stop at 1306) | c.3894delA | 1 |
| 1288 | AAA | 1 (0,07 %) | del1c (Stop at 1306) | c.3864delA | 1 |
| 1268 | TGG | 1 (0,07 %) | TGA (G->A) | c.3804G>A | 1 |
| 1262 | GAA | 1 (0,07 %) | spl+1 (G->A) | c.IVS27+1G>A (c.3786+1G>A) | 1 |
| 1258 | TGC | 1 (0,07 %) | del5a (Stop at 1268) | c.3772_3776delTGCAA | 1 |
| 1253 | AGG | 1 (0,07 %) | del2b (Stop at 1269) | c.3758_3759delGG | 1 |
| 1249 | TGG | 1 (0,07 %) | TAG (G->A) | c.3746G>A | 1 |
| 1248 | CAG | 1 (0,07 %) | TAG (C->T) | c.3742C>T | 1 |
| 1240 | CTT | 1 (0,07 %) | del7c (Stop at 1241) | c.3720_3726del | 1 |
| 1239 | GAA | 1 (0,07 %) | del1a (Stop at 1243) | c.3715delG | 1 |
| 1238 | AAG | 1 (0,07 %) | del1b (Stop at 1243) | c.3713delA | 1 |
| 1210 | AAA | 1 (0,07 %) | del1c (Stop at 1214) | c.3630delA | 1 |
| 1205 | GAA | 1 (0,07 %) | TAA (G->T) | c.3613G>T | 1 |
| 1189 | ACT | 1 (0,07 %) | ins1b (Stop at 1192) | c.3565dup | 1 |
| 1186 | GAA | 1 (0,07 %) | TAA (G->T) | c.3556G>T | 1 |
| 1184 | GAT | 1 (0,07 %) | del2b (Stop at 1185) | c.3551_3552delAT | 1 |
| 1182 | GAG | 1 (0,07 %) | del1b (Stop at 1200) | c.3545delA | 1 |
| 1180 | TAT | 1 (0,07 %) | ins9b (Stop at 1180) | c.3530_3538dup | 1 |
| 1172 | TGG | 1 (0,07 %) | TGA (G->A) | c.3516G>A | 1 |
| 1167 | TCA | 1 (0,07 %) | TGA (C->G) | c.3500C>G | 1 |
| 1160 | GTA | 1 (0,07 %) | del2a (Stop at 1176) | c.3478_3479delGT | 1 |
| 1157 | GAG | 1 (0,07 %) | TAG (G->T) | c.3469G>T | 1 |
| 1152 | TTG | 1 (0,07 %) | del26a (Stop at 1168) | c.3454_3479del | 1 |
| 1150 | GAG | 1 (0,07 %) | TAG (G->T) | c.3448G>T | 1 |
| 1143 | CAA | 1 (0,07 %) | TAA (C->T) | c.3427C>T | 1 |
| 1136 | ACT | 1 (0,07 %) | del13c (Stop at 1148) | c.3408_3420del | 1 |
| 1133 | GAA | 1 (0,07 %) | TAA (G->T) | c.3397G>T | 1 |
| 1116 | AAG | 1 (0,07 %) | del4b (Stop at 1151) | c.3347_3350delAGAA | 1 |
| 1109 | AAT | 1 (0,07 %) | del1b (Stop at 1115) | c.3326delA | 1 |
| 1104 | AGT | 1 (0,07 %) | ins1a (Stop at 1110) | c.3309dup | 1 |
| 1102 | CAG | 1 (0,07 %) | TAG (C->T) | c.3304C>T | 1 |
| 1093 | CTT | 1 (0,07 %) | spl-1 (G->T) | c.IVS24-1G>T (c.3277-1G>T) | 1 |
| 1089 | AAA | 1 (0,07 %) | ins1c (Stop at 1097) | c.3267insC | 1 |
| 1087 | CAG | 1 (0,07 %) | TAG (C->T) | c.3259C>T | 1 |
| 1083 | ATT | 1 (0,07 %) | ins10a (Stop at 1100) | c.3247insTTTCTAAAAA | 1 |
| 1068 | GAT | 1 (0,07 %) | ins2b (Stop at 1072) | c.3203insTT | 1 |
| 1066 | GAA | 1 (0,07 %) | TAA (G->T) | c.3196G>T | 1 |
| 1061 | AAG | 1 (0,07 %) | del1c (Stop at 1071) | c.3183delG | 1 |
| 1053 | ATT | 1 (0,07 %) | del1a (Stop at 1060) | c.3157delA | 1 |
| 1050 | CTC | 1 (0,07 %) | del1b (Stop at 1060) | c.3149delT | 1 |
| 1042 | AAG | 1 (0,07 %) | TAG (A->T) | c.3124A>T | 1 |
| 1036 | CTG | 1 (0,07 %) | ins1c (Stop at 1038) | c.3107dup | 1 |
| 1035 | CAG | 1 (0,07 %) | TAG (C->T) | c.3103C>T | 1 |
| 1033 | TCC | 1 (0,07 %) | del2a (Stop at 1037) | c.3097_3098delTC | 1 |
| 1029 | TGG | 1 (0,07 %) | TGA (G->A) | c.3087G>A | 1 |
| 1021 | GAA | 1 (0,07 %) | TAA (G->T) | c.3061G>T | 1 |
| 1020 | TCA | 1 (0,07 %) | TGA (C->G) | c.3059C>G | 1 |
| 1017 | AAA | 1 (0,07 %) | TAA (A->T) | c.3049A>T | 1 |
| 1011 | CCC | 1 (0,07 %) | del1c (Stop at 1043) | c.3033delC | 1 |
| 1005 | GAG | 1 (0,07 %) | TAG (G->T) | c.3013G>T | 1 |
| 1004 | AAA | 1 (0,07 %) | del1c (Stop at 1043) | c.3012delA | 1 |
| 992 | CAA | 1 (0,07 %) | TAA (C->T) | c.2974C>T | 1 |
| 987 | AGT | 1 (0,07 %) | del20b (Stop at 1006) | c.2960_2979del | 1 |
| 986 | CAA | 1 (0,07 %) | TAA (C->T) | c.2956C>T | 1 |
| 958 | TCA | 1 (0,07 %) | TGA (C->G) | c.2873C>G | 1 |
| 946 | GAG | 1 (0,07 %) | TAG (G->T) | c.2836G>T | 1 |
| 943 | CGC | 1 (0,07 %) | ins4c (Stop at 969) | c.2829insTTAT | 1 |
| 939 | TTG | 1 (0,07 %) | del2a (Stop at 967) | c.2815_2816delTT | 1 |
| 937 | GAC | 1 (0,07 %) | ins1a (Stop at 937) | c.2808dup | 1 |
| 928 | AGA | 1 (0,07 %) | TGA (A->T) | c.2782A>T | 1 |
| 921 | GTC | 1 (0,07 %) | del1a (Stop at 948) | c.2761delG | 1 |
| 919 | AAG | 1 (0,07 %) | TAG (A->T) | c.2755A>T | 1 |
| 905 | ATG | 1 (0,07 %) | ins1a (Stop at 919) | c.2712dup | 1 |
| 890 | TTA | 1 (0,07 %) | TGA (T->G) | c.2669T>G | 1 |
| 889 | CGA | 1 (0,07 %) | TGA (C->T) | c.2665C>T | 1 |
| 885 | CCT | 1 (0,07 %) | del14c (Stop at 914) | c.2655_2668del | 1 |
| 879 | CGG | 1 (0,07 %) | del1a (Stop at 890) | c.2635delC | 1 |
| 864 | ACA | 1 (0,07 %) | del1b (Stop at 870) | c.2591delC | 1 |
| 863 | CCA | 1 (0,07 %) | GCA (C->G) | c.2587C>G | 1 |
| 862 | GAG | 1 (0,07 %) | TAG (G->T) | c.2584G>T | 1 |
| 855 | ATC | 1 (0,07 %) | ins2b (Stop at 871) | c.2562_2563dup | 1 |
| 849 | GCT | 1 (0,07 %) | del1c (Stop at 853) | c.2547delT | 1 |
| 844 | CAG | 1 (0,07 %) | TAG (C->T) | c.2530C>T | 1 |
| 841 | CAA | 1 (0,07 %) | TAA (C->T) | c.2521C>T | 1 |
| 831 | AAC | 1 (0,07 %) | del1b (Stop at 845) | c.2492delA | 1 |
| 828 | TAT | 1 (0,07 %) | TAA (T->A) | c.2484T>A | 1 |
| 826 | CTG | 1 (0,07 %) | del4a (Stop at 844) | c.2476_2479delCTGG | 1 |
| 824 | AAC | 1 (0,07 %) | ins1a (Stop at 824) | c.2469dup | 1 |
| 819 | CTA | 1 (0,07 %) | del4c (Stop at 844) | c.2457_2460delAAGT | 1 |
| 817 | CAG | 1 (0,07 %) | TAG (C->T) | c.2449C>T | 1 |
| 814 | GAA | 1 (0,07 %) | TAA (G->T) | c.2440G>T | 1 |
| 810 | AGC | 1 (0,07 %) | del14c (Stop at 816) | c.2430_2443del | 1 |
| 808 | CTG | 1 (0,07 %) | ins1c (Stop at 821) | c.2424insA | 1 |
| 807 | CAA | 1 (0,07 %) | TAA (C->T) | c.2419C>T | 1 |
| 803 | CAA | 1 (0,07 %) | TAA (C->T) | c.2407C>T | 1 |
| 800 | AGC | 1 (0,07 %) | del1c (Stop at 808) | c.2400delC | 1 |
| 793 | AAT | 1 (0,07 %) | AGT (A->G) | c.2378A>G | 1 |
| 790 | CAG | 1 (0,07 %) | TAG (C->T) | c.2368C>T | 1 |
| 772 | GAG | 1 (0,07 %) | TAG (G->T) | c.2314G>T | 1 |
| 770 | AAA | 1 (0,07 %) | TAA (A->T) | c.2308A>T | 1 |
| 759 | TTA | 1 (0,07 %) | TAA (T->A) | c.2276T>A | 1 |
| 756 | TTC | 1 (0,07 %) | del32c (Stop at 761) | c.2268_2299del | 1 |
| 755 | AAC | 1 (0,07 %) | del20c (Stop at 765) | c.2265_2284del | 1 |
| 753 | GAA | 1 (0,07 %) | AAA (G->A) | c.2257G>A | 1 |
| 737 | CGC | 1 (0,07 %) | del1b (Stop at 759) | c.2210delG | 1 |
| 733 | AGC | 1 (0,07 %) | del1a (Stop at 759) | c.2197delA | 1 |
| 728 | ATA | 1 (0,07 %) | del2b (Stop at 729) | c.2183_2184delTA | 1 |
| 727 | GAT | 1 (0,07 %) | del1a (Stop at 728) | c.2179delG | 1 |
| 713 | CAG | 1 (0,07 %) | TAG (C->T) | c.2137C>T | 1 |
| 709 | CAA | 1 (0,07 %) | TAA (C->T) | c.2125C>T | 1 |
| 704 | CCA | 1 (0,07 %) | del1b (Stop at 728) | c.2111delC | 1 |
| 696 | GTA | 1 (0,07 %) | del1a (Stop at 696) | c.2086delG | 1 |
| 690 | ACA | 1 (0,07 %) | del2b (Stop at 718) | c.2069_2070delCA | 1 |
| 687 | ACG | 1 (0,07 %) | del1b (Stop at 688) | c.2060delC | 1 |
| 683 | GAA | 1 (0,07 %) | TAA (G->T) | c.2047G>T | 1 |
| 678 | CAG | 1 (0,07 %) | TAG (C->T) | c.2032C>T | 1 |
| 675 | TCA | 1 (0,07 %) | TGA (C->G) | c.2024C>G | 1 |
| 667 | CAG | 1 (0,07 %) | TAG (C->T) | c.1999C>T | 1 |
| 660 | AAG | 1 (0,07 %) | del2a (Stop at 718) | c.1978_1979delAA | 1 |
| 654 | TTA | 1 (0,07 %) | TGA (T->G) | c.1961T>G | 1 |
| 652 | GAT | 1 (0,07 %) | del1c (Stop at 654) | c.1956delT | 1 |
| 650 | TGT | 1 (0,07 %) | TGA (T->A) | c.1950T>A | 1 |
| 643 | TGG | 1 (0,07 %) | TAG (G->A) | c.1928G>A | 1 |
| 638 | CAG | 1 (0,07 %) | TAG (C->T) | c.1912C>T | 1 |
| 635 | TCA | 1 (0,07 %) | ins4b (Stop at 635) | c.1900_1903dup | 1 |
| 633 | AAT | 1 (0,07 %) | ins1b (Stop at 634) | c.1898insT | 1 |
| 624 | AAA | 1 (0,07 %) | del1c (Stop at 631) | c.1872delA | 1 |
| 620 | CTG | 1 (0,07 %) | del2c (Stop at 633) | c.1860_1861delGT | 1 |
| 618 | GGC | 1 (0,07 %) | del2a (Stop at 633) | c.1852_1853delGG | 1 |
| 612 | AAG | 1 (0,07 %) | ins1c (Stop at 634) | c.1835dup | 1 |
| 611 | GAA | 1 (0,07 %) | TAA (G->T) | c.1831G>T | 1 |
| 607 | AAA | 1 (0,07 %) | del1c (Stop at 610) | c.1821delA | 1 |
| 606 | TTA | 1 (0,07 %) | TGA (T->G) | c.1817T>G | 1 |
| 598 | TCA | 1 (0,07 %) | TGA (C->G) | c.1793C>G | 1 |
| 591 | AAA | 1 (0,07 %) | del16a (Stop at 601) | c.1771_1786del | 1 |
| 590 | TTT | 1 (0,07 %) | CTT (T->C) | c.1768T>C | 1 |
| 579 | GAA | 1 (0,07 %) | ins1a (Stop at 591) | c.1734dup | 1 |
| 578 | AAA | 1 (0,07 %) | TAA (A->T) | c.1732A>T | 1 |
| 577 | GAA | 1 (0,07 %) | GAT (A->T) | c.1731A>T | 1 |
| 576 | TCA | 1 (0,07 %) | del1a (Stop at 582) | c.1726delT | 1 |
| 574 | TGG | 1 (0,07 %) | TGA (G->A) | c.1722G>A | 1 |
| 569 | TGC | 1 (0,07 %) | TGA (C->A) | c.1707C>A | 1 |
| 561 | TGG | 1 (0,07 %) | TGA (G->A) | c.1683G>A | 1 |
| 556 | GAC | 1 (0,07 %) | del1a (Stop at 582) | c.1666delG | 1 |
| 555 | CAA | 1 (0,07 %) | TAA (C->T) | c.1663C>T | 1 |
| 546 | TGG | 1 (0,07 %) | TGA (G->A) | c.1638G>A | 1 |
| 543 | ATC | 1 (0,07 %) | del1a (Stop at 582) | c.1627delA | 1 |
| 542 | AAC | 1 (0,07 %) | del1b (Stop at 582) | c.1625delA | 1 |
| 537 | GGA | 1 (0,07 %) | TGA (G->T) | c.1609G>T | 1 |
| 532 | CAA | 1 (0,07 %) | TAA (C->T) | c.1594C>T | 1 |
| 521 | AGT | 1 (0,07 %) | del4c (Stop at 581) | c.1563_1566delTGGA | 1 |
| 504 | CAA | 1 (0,07 %) | TAA (C->T) | c.1510C>T | 1 |
| 502 | CAA | 1 (0,07 %) | TAA (C->T) | c.1504C>T | 1 |
| 500 | CTA | 1 (0,07 %) | del1a (Stop at 500) | c.1498delC | 1 |
| 497 | CAA | 1 (0,07 %) | TAA (C->T) | c.1489C>T | 1 |
| 491 | CAA | 1 (0,07 %) | TAA (C->T) | c.1471C>T | 1 |
| 475 | GAG | 1 (0,07 %) | TAG (G->T) | c.1423G>T | 1 |
| 455 | CAG | 1 (0,07 %) | TAG (C->T) | c.1363C>T | 1 |
| 453 | CAG | 1 (0,07 %) | TAG (C->T) | c.1357C>T | 1 |
| 446 | CAT | 1 (0,07 %) | del2a (Stop at 446) | c.1336_1337delCA | 1 |
| 445 | TTA | 1 (0,07 %) | TGA (T->G) | c.1334T>G | 1 |
| 440 | GAA | 1 (0,07 %) | AAA (G->A) | c.1318G>A | 1 |
| 436 | GTA | 1 (0,07 %) | ins1b (Stop at 438) | c.1306dup | 1 |
| 421 | CAA | 1 (0,07 %) | TAA (C->T) | c.1261C>T | 1 |
| 416 | GAA | 1 (0,07 %) | ins8c (Stop at 427) | c.1248insagaaatga | 1 |
| 413 | TCA | 1 (0,07 %) | TAA (C->A) | c.1238C>A | 1 |
| 412 | TTA | 1 (0,07 %) | del1b (Stop at 424) | c.1235delT | 1 |
| 411 | AAA | 1 (0,07 %) | TAA (A->T) | c.1231A>T | 1 |
| 410 | GGA | 1 (0,07 %) | GTA (G->T) | c.1229G>T | 1 |
| 403 | GGA | 1 (0,07 %) | TGA (G->T) | c.1207G>T | 1 |
| 402 | TTG | 1 (0,07 %) | ins1c (Stop at 405) | c.1205dup | 1 |
| 401 | CAA | 1 (0,07 %) | del1a (Stop at 406) | c.1201delC | 1 |
| 400 | CTA | 1 (0,07 %) | ins1b (Stop at 405) | c.1199insA | 1 |
| 385 | TAC | 1 (0,07 %) | ins1a (Stop at 398) | c.1152dup | 1 |
| 384 | GGG | 1 (0,07 %) | spl-2 (A->G) | c.IVS10-2A>G (c.1150-2A>G) | 1 |
| 378 | CAG | 1 (0,07 %) | TAG (C->T) | c.1132C>T | 1 |
| 359 | GAG | 1 (0,07 %) | del1b (Stop at 375) | c.1076delA | 1 |
| 350 | GAA | 1 (0,07 %) | TAA (G->T) | c.1048G>T | 1 |
| 345 | CAA | 1 (0,07 %) | TAA (C->T) | c.1033C>T | 1 |
| 344 | TAT | 1 (0,07 %) | TAA (T->A) | c.1032T>A | 1 |
| 329 | TCA | 1 (0,07 %) | TGA (C->G) | c.986C>G | 1 |
| 326 | GAA | 1 (0,07 %) | TAA (G->T) | c.976G>T | 1 |
| 322 | TTG | 1 (0,07 %) | TAG (T->A) | c.965T>A | 1 |
| 321 | CAT | 1 (0,07 %) | spl-1 (G->A) | c.IVS9-1G>A (c.961-1G>A) | 1 |
| 301 | TAC | 1 (0,07 %) | TAA (C->A) | c.903C>A | 1 |
| 299 | TAT | 1 (0,07 %) | TAG (T->G) | c.897T>G | 1 |
| 296 | TTC | 1 (0,07 %) | ins1c (Stop at 311) | c.887dup | 1 |
| 286 | TAT | 1 (0,07 %) | del2b (Stop at 286) | c.857_858delAT | 1 |
| 285 | GGA | 1 (0,07 %) | TGA (G->T) | c.853G>T | 1 |
| 264 | GAA | 1 (0,07 %) | TAA (G->T) | c.790G>T | 1 |
| 262 | AAA | 1 (0,07 %) | ins1a (Stop at 262) | c.783dup | 1 |
| 252 | GAA | 1 (0,07 %) | TAA (G->T) | c.754G>T | 1 |
| 237 | CAA | 1 (0,07 %) | TAA (C->T) | c.709C>T | 1 |
| 230 | ATG | 1 (0,07 %) | del1b (Stop at 243) | c.689delT | 1 |
| 222 | TAT | 1 (0,07 %) | TAA (T->A) | c.666T>A | 1 |
| 215 | CCT | 1 (0,07 %) | ins1c (Stop at 216) | c.644dup | 1 |
| 191 | TCA | 1 (0,07 %) | TGA (C->G) | c.572C>G | 1 |
| 187 | GTT | 1 (0,07 %) | del1a (Stop at 207) | c.559delG | 1 |
| 170 | AAT | 1 (0,07 %) | del4a (Stop at 206) | c.508_511delAATG | 1 |
| 169 | TTG | 1 (0,07 %) | del1c (Stop at 207) | c.507delG | 1 |
| 163 | TGG | 1 (0,07 %) | ins2a (Stop at 170) | c.485_486dup | 1 |
| 159 | TTC | 1 (0,07 %) | del2a (Stop at 164) | c.475_476delTT | 1 |
| 152 | CCA | 1 (0,07 %) | ins1c (Stop at 155) | c.455dup | 1 |
| 146 | CAA | 1 (0,07 %) | TAA (C->T) | c.436C>T | 1 |
| 143 | TGG | 1 (0,07 %) | TAG (G->A) | c.428G>A | 1 |
| 140 | CTC | 1 (0,07 %) | del1a (Stop at 141) | c.418delC | 1 |
| 138 | AAG | 1 (0,07 %) | del2a (Stop at 149) | c.412_413delAA | 1 |
| 124 | ATG | 1 (0,07 %) | del1c (Stop at 141) | c.372delG | 1 |
| 116 | CTC | 1 (0,07 %) | CCC (T->C) | c.347T>C | 1 |
| 114 | ATA | 1 (0,07 %) | AAA (T->A) | c.341T>A | 1 |
| 104 | CAT | 1 (0,07 %) | del2c (Stop at 136) | c.312_313delTA | 1 |
| 103 | AAT | 1 (0,07 %) | del1b (Stop at 106) | c.308delA | 1 |
| 102 | GGA | 1 (0,07 %) | ins1c (Stop at 105) | c.305dup | 1 |
| 89 | GTT | 1 (0,07 %) | spl-463 (A->G) | c.IVS4-463A>G (c.265-463A>G) | 1 |
| 85 | CAG | 1 (0,07 %) | TAG (C->T) | c.253C>T | 1 |
| 67 | GGA | 1 (0,07 %) | TGA (G->T) | c.199G>T | 1 |
| 65 | GAA | 1 (0,07 %) | ins1a (Stop at 88) | c.192dup | 1 |
| 61 | AAA | 1 (0,07 %) | del2b (Stop at 87) | c.182_183delAA | 1 |
| 52 | GAC | 1 (0,07 %) | ins1b (Stop at 88) | c.154dup | 1 |
| 48 | AGG | 1 (0,07 %) | ins1a (Stop at 88) | c.141dup | 1 |
| 46 | GAT | 1 (0,07 %) | del1a (Stop at 51) | c.136delG | 1 |
| 44 | CTA | 1 (0,07 %) | ins4b (Stop at 89) | c.127_130dup | 1 |
| 42 | AGT | 1 (0,07 %) | ins1c (Stop at 43) | c.125dup | 1 |
| 39 | AAC | 1 (0,07 %) | ins1c (Stop at 43) | c.116dup | 1 |
| 31 | AAG | 1 (0,07 %) | spl+1 (G->A) | c.IVS2+1G>A (c.93+1G>A) | 1 |
| 25 | GTA | 1 (0,07 %) | GAA (T->A) | c.74T>A | 1 |
| 17 | CAA | 1 (0,07 %) | del2b (Stop at 30) | c.50_51delAA | 1 |
| 13 | AGA | 1 (0,07 %) | del1c (Stop at 25) | c.39delA | 1 |
| 6 | GAA | 1 (0,07 %) | del1b (Stop at 7) | c.17delA | 1 |