MUTCF-2
GENE MUTATION PANEL
Description:
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Aliquot Size:
10 µg each
| Catalog ID | Sex | Age at Sampling | Family | Relationship | Gene | Mutation | Affected |
| NA01531 | Male | 23 YR | 426 | proband | CFTR | PHE508DEL (Bi) | Yes |
| NA11277 | Male | | 1883 | parent | CFTR | ILE507DEL (Mono) | |
| NA11496 | Female | 16 YR | 1395 | proband | CFTR | GLY542TER (Bi) | Yes |
| NA07552 | Female | 16 YR | 1064 | proband | CFTR | ARG553TER (Mono), PHE508DEL (Mono) | Yes |
| NA08338 | Male | 39 YR | 1064 | in-law | CFTR | GLY551ASP (Mono) | |
| NA07441 | Female | 20 YR | 1047 | proband | CFTR, MTHFR | 621+1G>T (Mono), 677C>T (Mono), IVS16,G>A,+1 (3120+1G>A) (Mono) | Yes |
| NA11859 | Female | 57 YR | | proband | CFTR | c.2657+5 G>A (Bi) | Yes |
| NA11723 | Female | 44 YR | | parent | CFTR | TRP1282TER (Mono) | |
| NA13591 | Female | 32 YR | | proband | CFTR, HFE, MTHFR | 677C>T (Mono), ARG117HIS (Mono), c.187C>G (p.HIS63ASP) (Bi), PHE508DEL (Mono) | Yes |
| NA18799 | Female | 31 YR | | proband | CFTR | 2184delA (Mono), PHE508DEL (Mono) | Yes |
| NA18800 | Female | 25 YR | | proband | CFTR | 1898+1 G>A (Mono), PHE508DEL (Mono) | Yes |
| NA11860 | Female | 21 YR | | proband | CFTR | IVS19DS, +10 KB, C>T (3849+10kbC>T) (Bi) | Yes |
| NA11280 | Female | | | proband | CFTR | 621+1G>T (Mono), 711+1G>T (Mono) | Yes |
| NA11282 | Female | | | proband | CFTR | 621+1G>T (Mono), GLY85GLU (Mono) | Yes |
| NA12585 | Male | 39 YR | | parent | CFTR | ARG1162TER (c.3484C>T) (Mono) | |
| NA12444 | Male | 37 YR | | parent | CFTR | IVS10AS, G>A, -1 (1717-1G>A) (Mono) | |
| NA11472 | Male | 21 YR | | proband | CFTR | ASN1303LYS (Mono), GLY1349ASP (Mono) | Yes |
| NA12785 | Male | 11 YR | | proband | CFTR | ARG347PRO (Mono), GLY551ASP (Mono) | Yes |
| NA12960 | Male | 10 YR | | proband | CFTR | ARG334TRP (Mono), c.3368-2A>T (Mono) | Yes |
| NA11275 | Male | | | proband | CFTR | 1-BP DEL, 3659C (Mono), PHE508DEL (Mono) | Yes |
| NA11281 | Male | | | proband | CFTR | 621+1G>T (Mono), PHE508DEL (Mono) | Yes |
| NA11283 | Male | | | proband | CFTR | ALA455GLU (Mono), PHE508DEL (Mono) | Yes |
| NA11284 | Male | | | proband | CFTR | ARG560THR (Mono), PHE508DEL (Mono) | Yes |
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