Frequency of detection | Exon | Codon | Base substitution | Amino acid change | Mutation Type | Within DNA binding Domain | Hotspota |
---|---|---|---|---|---|---|---|
1 | E05 | 387 | CT | A129A | Heterozygous | Yes | Not detected |
1 | E05 | 413 | CT | A138V | Heterozygous | Yes | Yes |
1 | E05 | 477 | CT | A159A | Heterozygous | Yes | Yes |
1 | E06 | 572_574 | delCTC | A189A | Homozygous | Yes | Yes |
1 | E06 | 566 | CT | A189V | Heterozygous | Yes | No |
1 | E08 | 919 | GA | A307T | Heterozygous | No | Not detected |
1 | E05 | 405 | CT | C135C | Heterozygous | Yes | Yes |
1 | E05 | 404 | GA | C135Y | Heterozygous | Yes | Yes |
1 | E05 | 423_427 | delCCCTG | C140Cfs*6 | Heterozygous | Yes | No |
1 | E05 | 423 | CT | C141C | Heterozygous | Yes | Yes |
1 | E05 | 527 | GT | C176F | Heterozygous | Yes | Yes |
1 | E05 | 442 | GT | D148Y | Heterozygous | Yes | No |
1 | E06 | 624 | CT | D208D | Heterozygous | Yes | Yes |
1 | E06 | 592 | GA | E198K | Heterozygous | Yes | Yes |
1 | E06 | 610 | GT | E204X | Heterozygous | Yes | Yes |
1 | E08 | 811 | GT | E271X | Heterozygous | Yes | No |
1 | E08 | 813 | GA | E271E | Heterozygous | Yes | Yes |
1 | E08 | 811 | GA | E271K | Heterozygous | Yes | Yes |
1 | E08 | 854 | AG | E285G | Homozygous | Yes | No |
1 | E08 | 856 | GA | E286K | Heterozygous | Yes | No |
1 | E08 | 859 | GT | E287X | Heterozygous | Yes | Yes |
1 | E08 | 880 | GT | E294X | Heterozygous | No | Yes |
1 | E08 | 892 | GA | E298K | Heterozygous | No | Yes |
1 | E05 | 461 | GA | G154D | Heterozygous | Yes | Yes |
1 | E05 | 534 | CT | H178H | Heterozygous | Yes | Yes |
1 | E05 | 536 | AG | H179R | Heterozygous | Yes | Yes |
1 | E05 | 486 | CT | I162I | Heterozygous | Yes | Yes |
1 | E05 | 485 | TC | I162T | Heterozygous | Yes | No |
1 | E06 | 583 | AT | I195F | Heterozygous | Yes | Yes |
1 | E08 | 915 | GA | K305K | Homozygous | No | Yes |
1 | E08 | 866 | TC | L289P | Homozygous | Yes | No |
1 | E08 | 865 | CG | L289V | Heterozygous | Yes | No |
1 | E05 | 426 | TC | P142P | Heterozygous | Yes | Yes |
1 | E05 | 452 | CA | P151H | Heterozygous | Yes | Yes |
2 | E05 | 452 | CT | P151L | Heterozygous | Yes | Yes |
1 | E05 | 457 | CT | P153S | Heterozygous | Yes | No |
1 | E05 | 530 | CT | P177L | Heterozygous | Yes | No |
1 | E06 | 667 | CT | P223S | Heterozygous | Yes | Yes |
1 | E05 | 408 | AG | Q136Q | Homozygous | Yes | Yes |
1 | E05 | 430 | CT | Q144X | Homozygous | Yes | No |
1 | E05 | 493 | CT | Q165X | Heterozygous | Yes | No |
1 | E05 | 523 | CT | R175C | Heterozygous | Yes | Yes |
1 | E05 | 524 | GA | R175H | Heterozygous | Yes | Yes |
2 | E06 | 586 | CT | R196X | Heterozygous | Yes | Yes |
1 | E06 | 626 | GA | R209K | Heterozygous | Yes | Yes |
3 | E06 | 637 | CT | R213X | Heterozygous | Yes | No |
1 | E06 | 638 | GT | R213L | Heterozygous | Yes | Yes |
1 | E08 | 801 | GA | R267R | Heterozygous | Yes | Yes |
1 | E08 | 846 | GA | R282R | Heterozygous | Yes | Yes |
1 | E08 | 844 | CT | R282W | Homozygous | Yes | Yes |
1 | E08 | 869 | GT | R290L | Heterozygous | No | Yes |
2 | E08 | 916 | CT | R306X | Heterozygous | No | Yes |
1 | E05 | 419 | CT | T140I | Heterozygous | Yes | No |
1 | E06 | 632 | CT | T211I | Heterozygous | Yes | Yes |
1 | E08 | 919 | delG | T304P | Heterozygous | No | No |
1 | E05 | 428 | TC | V143A | Heterozygous | Yes | No |
1 | E05 | 517 | GT | V173L | Heterozygous | Yes | Yes |
1 | E06 | 609 | GA | V203V | Homozygous | Yes | Yes |
1 | E08 | 814 | GA | V272M | Heterozygous | Yes | Yes |
1 | E05 | 489 | CA | Y163X | Heterozygous | Yes | No |
1 | E05 | 489 | CT | Y163Y | Heterozygous | Yes | Yes |
1 | E06 | 613 | TC | Y205H | Heterozygous | Yes | Yes |
1 | E06 | 659 | AG | Y220C | Heterozygous | Yes | Yes |
1 | E05 | 376-28_413 | delCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAAGATGTTTTGCCAACTGGC | Â | Heterozygous | No | Not detected |
1 | E08 | 894_895 | insAG | Â | Heterozygous | No | Yes |