|
This option is used to check if
a repeated sequence could be involved in the mutational event.
The repeated sequences is usually localized at each extremity
of the deletion. This situation if found habitually when a deletion
involving more than 2 nt is present. When the deletion involves
only 1 nt, it is mostly localized in a stretch of this nucleotide
(polyC for example).
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Total number of deletions: 77 (364 records) Small deletions with known sequences: 77 (364 records) Deletions involving repeated sequences: 52 (67.53 %) |
| AA Position | Mutation | Repeated sequence | Number of records | Deletion / Repeated sequences |
|---|---|---|---|---|
| 83 | c.249_252delGTCT | CT | cggcctcacctactttcccgtggccgacctGTCTatcatcgccgccctctatgcccgcttca | |
| 210 | c.628_631delACAG | CAG | ggcaagggcaacgaggaccgcaggggccagACAGtcaatgccggtgtggctgagcggagctg | |
| 461 | c.1382_1389del | GCCGAG | cggcagaaggtgcgcatagtgagccgagAGGCCGAGgcggccgaggccgaggagccgtgggg | |
| 516 | c.1546delC | CCCCCCC | accggccagggtgcagtgtcaggaccccccCggaagcctcctgggactgtcgctggcaca | |
| 553 | c.1658delT | TTT | caccaccgccggagggtccagtgctcacttTccagagtgagaagatgaagggcatgaagg | |
| 223 | c.667delC | CC | gccggtgtggctgagcggagctggctgtacCtgaaaggatcatacatgcgctgtgaccgc | |
| 398 | c.1192delC | CCC | gagcggccgggggagcaaagccagggcaccCagagccaaggttccgccctccaggaccct | |
| 527 | c.1579delC | CCC | aagcctcctgggactgtcgctggcacagccCgaggccctgaaggtggcagcacggctcag | |
| 461 | c.1382_1404del | GCCGAG | aggtgcgcatagtgagccgagAGGCCGAGGCGGCCGAGGCCGAGgagccgtggggcgaggaa | |
| 23 | c.69delT | TTT | gcgctccatcgacgacgtggtgcgcctgttTgctgccgagctgggccgagaggagccgga | |
| 422 | c.1266delA | AAA | cctgctgcgattctacgacggcatctgcaaAtgggaggagggcagtcccacgcctgtgct | |
| 139 | c.415delC | CCC | ctcagccgctcctacttcaaggatcgggccCacatccagtccctcttcagcttcatcaca | |
| 76 | c.228delC | CC | ccccgcccccgacccgcctggcggcctcacCtactttcccgtggccgacctgtctatcat | |
| 452 | c.1356delG | GG | gtccctaggccgttttgagggacaggtgcgGcagaaggtgcgcatagtgagccgagaggc | |
| 27 | c.79_88del | GCCGAG | gacgtggtgcgcctgtttgctgccgagCTGGGCCGAGaggagccggacctggtgctcctttc | |
| 120 | c.358_360delAAG | AAG | gggggtgtctccagccgtgagctggtgaagAAGgtctccgatgtcatatggaacagcctca | |
| 425 | c.1274_1276delAGG | AGG | gattctacgacggcatctgcaaatgggaggAGGgcagtcccacgcctgtgctgcatgtggg | |
| 450 | c.IVS9+1Del12 (c.1350+1Del12) | TG | ||
| 516 | c.1546dup | GG | ccggccagggtgcagtgtcaggacccccccGgaagcctcctgggactgtcgctggcacag | |
| 359 | c.1075_1077delGAG | GAG | caggactacaactactgccgggaagacgagGAGatctacaaggagttctttgaagtagcca | |
| 404 | c.1210delC | CCC | agccagggcacccagagccaaggttccgccCtccaggaccctgagtgcttcgcccacctg | |
| 444 | c.1330delC | CCC | gtgggctgggccacctttcttgtgcagtccCtaggccgttttgagggacaggtgcggcag | |
| 530 | c.1590delA | AA | gactgtcgctggcacagcccgaggccctgaAggtggcagcacggctcaggtgccagcacc | |
| 125 | c.375_376delAT | AT | tgagctggtgaagaaggtctccgatgtcatATggaacagcctcagccgctcctacttcaag | |
| 406 | c.1216delG | GG | ggcacccagagccaaggttccgccctccagGaccctgagtgcttcgcccacctgctgcga | |
| 439 | c.1317_1320delTCTT | CTT | gcctgtgctgcatgtgggctgggccaccttTCTTgtgcagtccctaggccgttttgagggac | |
| 501 | c.1502_1510del | CTGG | cccccgccgcccaagaagccagcactggACAAGGGCCtgggcaccggccagggtgcagtgtc | |
| 69 | c.205_215del | CCCGCC | gagctcaccttccagcccagccccgccCCCGACCCGCCtggcggcctcacctactttcccgt | |
| 208 | c.623delG | GGGG | ggcacggcaagggcaacgaggaccgcagggGccagacagtcaatgccggtgtggctgagc | |
| 92 | c.274delC | CCC | gacctgtctatcatcgccgccctctatgccCgcttcaccgcccagatccgaggcgccgtc | |
| 147 | c.440_442delTCA | TCA | gggcccacatccagtccctcttcagcttcaTCAcaggcaccaaattggacagctccggtgt | |
| 340 | c.1018delG | GG | cgcaaccgcaatgtgcgggaagccctgcagGcctgggcggacacggccactgtcatccag | |
| 311 | c.933delC | CC | ctaccacaagggcattgcctcagccaagacCtactatcgggatgaacacatctaccccta | |
| 461 | c.1382_1399del | GCCGAG | gaaggtgcgcatagtgagccgagAGGCCGAGGCGGCCGAGGccgaggagccgtggggcgagg | |
| 496 | c.1487delA | AA | agtccaagccagaggagcccccgccgcccaAgaagccagcactggacaagggcctgggca | |
| 55 | c.164_168delCTACC | CC | agcattttctggctgtcaaccgcgtcatccCTACCaacgttcccgagctcaccttccagccc | |
| 194 | c.582_606del | GC | cccaatggggagcagacagcTGAGGTCACCTGGCACGGCAAGGGCaacgaggaccgcagggg | |
| 442 | c.1325_1335del | GC | atgtgggctgggccacctttcttgtgcAGTCCCTAGGCcgttttgagggacaggtgcggcag | |
| 59 | c.177delC | CCC | tgtcaaccgcgtcatccctaccaacgttccCgagctcaccttccagcccagccccgcccc | |
| 83 | c.249_250dup | CT | cggcctcacctactttcccgtggccgacctGTctatcatcgccgccctctatgcccgcttc | |
| 66 | c.191_195dup | CCC | accaacgttcccgagctcaccttccagcccAGCCCcgcccccgacccgcctggcggcctcac | |
| 258 | c.773dup | CTGCA | ||
| 414 | c.1241_1243delTGC | TGC | tccaggaccctgagtgcttcgcccacctgcTGCgattctacgacggcatctgcaaatggga | |
| 540 | c.1620delC | CCC | aggtggcagcacggctcaggtgccagcaccCacagcatcaccaccgccggagggtccagt | |
| 509 | c.1525delG | GGG | gcactggacaagggcctgggcaccggccagGgtgcagtgtcaggacccccccggaagcct | |
| 486 | c.1456delG | GGG | cgggaaggccggcggcggggcccacggcggGagtccaagccagaggagcccccgccgccc | |
| 35 | c.103delG | GG | gccgagctgggccgagaggagccggacctgGtgctcctttccttggtgctgggcttcgtg | |
| 460 | c.1380_1391del | CG | cggcagaaggtgcgcatagtgagccgAGAGGCCGAGGCggccgaggccgaggagccgtgggg | |
| 303 | c.909_910delCA | CA | tggccggccagacccactcaccctctaccaCAagggcattgcctcagccaagacctactat | |
| 36 | c.108_122del | TGGTGCT | gccgagaggagccggacctggtgctCCTTTCCTTGGTGCTgggcttcgtggagcattttctg | |
| 335 | c.1004_1015del | TGC | ctaccactgtcgcaaccgcaatgtgcGGGAAGCCCTGCaggcctgggcggacacggccactg | |
| 168 | c.504delG | GGG | ctttgctgtggttggggcctgccaggccctGggtctccgggatgtccacctcgccctgtc |