| Gene . | Type of variation . | Nucleotide variation . | Protein variation . | Allele number . |
|---|---|---|---|---|
| CYP21A2 | SNV/indels | c.518T > A | p.Ile173Asn | 19/65 (29.2%) |
| c.293-13C/A > G | dNA | 14/65 (21.5%) | ||
| c.1025G > C | p.Arg342Pro | 3/65 (4.6%) | ||
| c.332_339del | p.Gly111Valfs | 2/65 (3.1%) | ||
| c.955C > T | p.Gln319Ter | 2/65 (3.1%) | ||
| c.1069C > T | p.Arg357Trp | 2/65 (3.1%) | ||
| c.92C > T | p.Pro31Leu | 1/65 (1.5%) | ||
| c.844G > T | p.Val282Leu | 1/65 (1.5%) | ||
| c.853G > C | p.Ala285Pro | 1/65 (1.5%) | ||
| c.1279C > T | p.Arg427Cys | 1/65 (1.5%) | ||
| 30-kb deletions | a30-KB DEL-CH-1 | NA | 6/65 (9.2%) | |
| bDEL-CH-1 | NA | 6/65 (9.2%) | ||
| 30-KB DEL-CH-6 | NA | 1/65 (1.5%) | ||
| DEL-CH-2 | NA | 1/65 (1.5%) | ||
| Complex variations | Large gene convertion (c.1451_1452delinsC, c.1451_1452delinsC) | p.Arg484fs | 2/65 (3.1%) | |
| cE4-E10 mutations | NA | 1/65 (1.5%) | ||
| c.844G > T, c.923dup, c.955C > T, c.1069C > T | p.Val282Leu, p.L308fs | 1/65 (1.5%) | ||
| c.92C > T, c.188A > T | p.Pro31Leu, p.His63Leu | 1/65 (1.5%) | ||
| HSD3B2 | SNV/indels | c.674T > A | p.Val225Asp | 1/2 (50%) |
| c.857C > T | p.Pro286Leu | 1/2 (50%) | ||
| CYP17A1 | SNV/indels | c.985_987delinsAA | p.Tyr329fs | 1/2 (50%) |
| c.1459_1467del | p.Asp487_Phe489del | 1/2 (50%) |
| Gene . | Type of variation . | Nucleotide variation . | Protein variation . | Allele number . |
|---|---|---|---|---|
| CYP21A2 | SNV/indels | c.518T > A | p.Ile173Asn | 19/65 (29.2%) |
| c.293-13C/A > G | dNA | 14/65 (21.5%) | ||
| c.1025G > C | p.Arg342Pro | 3/65 (4.6%) | ||
| c.332_339del | p.Gly111Valfs | 2/65 (3.1%) | ||
| c.955C > T | p.Gln319Ter | 2/65 (3.1%) | ||
| c.1069C > T | p.Arg357Trp | 2/65 (3.1%) | ||
| c.92C > T | p.Pro31Leu | 1/65 (1.5%) | ||
| c.844G > T | p.Val282Leu | 1/65 (1.5%) | ||
| c.853G > C | p.Ala285Pro | 1/65 (1.5%) | ||
| c.1279C > T | p.Arg427Cys | 1/65 (1.5%) | ||
| 30-kb deletions | a30-KB DEL-CH-1 | NA | 6/65 (9.2%) | |
| bDEL-CH-1 | NA | 6/65 (9.2%) | ||
| 30-KB DEL-CH-6 | NA | 1/65 (1.5%) | ||
| DEL-CH-2 | NA | 1/65 (1.5%) | ||
| Complex variations | Large gene convertion (c.1451_1452delinsC, c.1451_1452delinsC) | p.Arg484fs | 2/65 (3.1%) | |
| cE4-E10 mutations | NA | 1/65 (1.5%) | ||
| c.844G > T, c.923dup, c.955C > T, c.1069C > T | p.Val282Leu, p.L308fs | 1/65 (1.5%) | ||
| c.92C > T, c.188A > T | p.Pro31Leu, p.His63Leu | 1/65 (1.5%) | ||
| HSD3B2 | SNV/indels | c.674T > A | p.Val225Asp | 1/2 (50%) |
| c.857C > T | p.Pro286Leu | 1/2 (50%) | ||
| CYP17A1 | SNV/indels | c.985_987delinsAA | p.Tyr329fs | 1/2 (50%) |
| c.1459_1467del | p.Asp487_Phe489del | 1/2 (50%) |
a30-KB DEL-CH-1, a 30-kb deletion and the formation of chimeric genes of CYP21A1P/CYP21A2; bDEL-CH-1, a 30-kb deletion and the formation of chimeric genes of TNXA/TNXB; cE4-E10 mutations, the presence of several mutations from exon 4 to exon10 of CYP21A2 gene; dNA, not applicable.
| Gene . | Type of variation . | Nucleotide variation . | Protein variation . | Allele number . |
|---|---|---|---|---|
| CYP21A2 | SNV/indels | c.518T > A | p.Ile173Asn | 19/65 (29.2%) |
| c.293-13C/A > G | dNA | 14/65 (21.5%) | ||
| c.1025G > C | p.Arg342Pro | 3/65 (4.6%) | ||
| c.332_339del | p.Gly111Valfs | 2/65 (3.1%) | ||
| c.955C > T | p.Gln319Ter | 2/65 (3.1%) | ||
| c.1069C > T | p.Arg357Trp | 2/65 (3.1%) | ||
| c.92C > T | p.Pro31Leu | 1/65 (1.5%) | ||
| c.844G > T | p.Val282Leu | 1/65 (1.5%) | ||
| c.853G > C | p.Ala285Pro | 1/65 (1.5%) | ||
| c.1279C > T | p.Arg427Cys | 1/65 (1.5%) | ||
| 30-kb deletions | a30-KB DEL-CH-1 | NA | 6/65 (9.2%) | |
| bDEL-CH-1 | NA | 6/65 (9.2%) | ||
| 30-KB DEL-CH-6 | NA | 1/65 (1.5%) | ||
| DEL-CH-2 | NA | 1/65 (1.5%) | ||
| Complex variations | Large gene convertion (c.1451_1452delinsC, c.1451_1452delinsC) | p.Arg484fs | 2/65 (3.1%) | |
| cE4-E10 mutations | NA | 1/65 (1.5%) | ||
| c.844G > T, c.923dup, c.955C > T, c.1069C > T | p.Val282Leu, p.L308fs | 1/65 (1.5%) | ||
| c.92C > T, c.188A > T | p.Pro31Leu, p.His63Leu | 1/65 (1.5%) | ||
| HSD3B2 | SNV/indels | c.674T > A | p.Val225Asp | 1/2 (50%) |
| c.857C > T | p.Pro286Leu | 1/2 (50%) | ||
| CYP17A1 | SNV/indels | c.985_987delinsAA | p.Tyr329fs | 1/2 (50%) |
| c.1459_1467del | p.Asp487_Phe489del | 1/2 (50%) |
| Gene . | Type of variation . | Nucleotide variation . | Protein variation . | Allele number . |
|---|---|---|---|---|
| CYP21A2 | SNV/indels | c.518T > A | p.Ile173Asn | 19/65 (29.2%) |
| c.293-13C/A > G | dNA | 14/65 (21.5%) | ||
| c.1025G > C | p.Arg342Pro | 3/65 (4.6%) | ||
| c.332_339del | p.Gly111Valfs | 2/65 (3.1%) | ||
| c.955C > T | p.Gln319Ter | 2/65 (3.1%) | ||
| c.1069C > T | p.Arg357Trp | 2/65 (3.1%) | ||
| c.92C > T | p.Pro31Leu | 1/65 (1.5%) | ||
| c.844G > T | p.Val282Leu | 1/65 (1.5%) | ||
| c.853G > C | p.Ala285Pro | 1/65 (1.5%) | ||
| c.1279C > T | p.Arg427Cys | 1/65 (1.5%) | ||
| 30-kb deletions | a30-KB DEL-CH-1 | NA | 6/65 (9.2%) | |
| bDEL-CH-1 | NA | 6/65 (9.2%) | ||
| 30-KB DEL-CH-6 | NA | 1/65 (1.5%) | ||
| DEL-CH-2 | NA | 1/65 (1.5%) | ||
| Complex variations | Large gene convertion (c.1451_1452delinsC, c.1451_1452delinsC) | p.Arg484fs | 2/65 (3.1%) | |
| cE4-E10 mutations | NA | 1/65 (1.5%) | ||
| c.844G > T, c.923dup, c.955C > T, c.1069C > T | p.Val282Leu, p.L308fs | 1/65 (1.5%) | ||
| c.92C > T, c.188A > T | p.Pro31Leu, p.His63Leu | 1/65 (1.5%) | ||
| HSD3B2 | SNV/indels | c.674T > A | p.Val225Asp | 1/2 (50%) |
| c.857C > T | p.Pro286Leu | 1/2 (50%) | ||
| CYP17A1 | SNV/indels | c.985_987delinsAA | p.Tyr329fs | 1/2 (50%) |
| c.1459_1467del | p.Asp487_Phe489del | 1/2 (50%) |
a30-KB DEL-CH-1, a 30-kb deletion and the formation of chimeric genes of CYP21A1P/CYP21A2; bDEL-CH-1, a 30-kb deletion and the formation of chimeric genes of TNXA/TNXB; cE4-E10 mutations, the presence of several mutations from exon 4 to exon10 of CYP21A2 gene; dNA, not applicable.
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