Table 5.
CYP21A2 variants detected in authors’ institutions (and so far not described in the literature) with ClinVar accession IDs.
| Classi-fication | Variant- cDNA level (NM_000500.9) | Predicted protein change (NP_000491.4) | dbSNP | Clin Var accession ID | Corresponding exon (NG_007941.3) |
|---|---|---|---|---|---|
| C2 | c.-211T>A | Submitted | Pro | ||
| C2 | c.-210T>C | Submitted | Pro | ||
| C1 | c.-187A>C | Submitted | Pro | ||
| C3 | c.-125G>A | rs1377266725 | Submitted | 5′UTR | |
| C3 | c.-121C>T | rs183137942 | Submitted | 5′UTR | |
| C3 | c.50G>T | p.(Arg17Leu) | VCV000800572 | Exon 1 | |
| C3 | c.137C>G | p.(Pro46Arg) | VCV000800573 | Exon 1 | |
| C1 | c.203-18G>C | VCV000800574 | Intron 1 | ||
| C2 | c.203-46C>T | VCV000800575 | Intron 1 | ||
| C3 | c.268G>T | p.(Ala90Ser) | rs1185350916 | VCV000800576 | Exon 2 |
| C3 | c.292+3A>G | rs752771213 | VCV000800577 | Intron 2 | |
| C2 | c.292+37T>A | VCV000800578 | Intron 2 | ||
| C2 | c.292+45_292+46insTGT | VCV000800579 | Intron 2 | ||
| C2 | c.292+56T>G | VCV000800580 | Intron 2 | ||
| C1 | c.292+109C>G | VCV000800581 | Intron 2 | ||
| C2 | c.293-136C>T | VCV000800582 | Intron 2 | ||
| C3 | c.293-131_290-129dup | VCV000800583 | Intron 2 | ||
| C3 | c.293-100_293-99insG | VCV000800584 | Intron 2 | ||
| C1 | c.293-130C>T | VCV000800585 | Intron 2 | ||
| C1 | c.293-115C>G | VCV000800586 | Intron 2 | ||
| C1 | c.293-96G>T | VCV000800587 | Intron 2 | ||
| C1 | c.293-95G>C | rs1382005578 | VCV000800588 | Intron 2 | |
| C1 | c.293-94T>A | VCV000800589 | Intron 2 | ||
| C1 | c.293-91G>A | rs1051507539 | VCV000800590 | Intron 2 | |
| C1 | c.293-89A>G | VCV000800591 | Intron 2 | ||
| C1 | c.293-88G>A | rs1282239643 | VCV000800592 | Intron 2 | |
| C1 | c.293-80G>A | rs79249676 | VCV000800593 | Intron 2 | |
| C1 | c.322C>T | p.(Leu108=) | VCV000800611 | Exon 3 | |
| C1 | c.382C>T | p.(Leu128=) | VCV000800612 | Exon 3 | |
| C1 | c.405C>T | p.(Ser135=) | VCV000800613 | Exon 3 | |
| C1 | c.447+38C>T | rs6466 | VCV000800614 | Intron 3 | |
| C1 | c.447+39G>A | rs569670804 | VCV000800615 | Intron 3 | |
| C1 | c.448-50G>A | rs780875791 | VCV000800616 | Intron 3 | |
| C1 | c.448-3C>T | VCV000800617 | Intron 3 | ||
| C3 | c.485A>G | p.(Glu162Gly) | rs1229809778 | VCV000800618 | Exon 4 |
| C3 | c.499C>G | p.(Leu167Val) | VCV000800619 | Exon 4 | |
| C3 | c.500T>G | p.(Leu167Arg) | CM071684 | VCV000800620 | Exon 4 |
| C5 | c.509G>A | p.(Cys170Tyr) | VCV000800621 | Exon 4 | |
| C5 | c.525C>A | p.(Tyr174*) | VCV000800622 | Exon 4 | |
| C3 | c.540C>G | p.(Asp180Glu) | VCV000800623 | Exon 4 | |
| C1 | c.550-19C>G | VCV000800624 | Intron 4 | ||
| C4 | c.559T>G | p.(Leu187Val) | VCV000800625 | Exon 5 | |
| C1 | c.651+30G>A | rs777741541 | VCV000800626 | Intron 5 | |
| C1 | c.651+35A>G | rs12525076 | VCV000800627 | Intron 5 | |
| C1 | c.652-5C>T | rs758449746 | VCV000800628 | Intron 5 | |
| C3 | c.724C>G | p.(Leu242Val) | VCV000800629 | Exon 6 | |
| C3 | c.738+75C>T | rs1463196531 | VCV000800630 | Intron 6 | |
| C3 | c.739-74G>A | VCV000800631 | Intron 6 | ||
| C4 | c.754G>A | p.(Gly252Ser) | rs182942340 | VCV000800632 | Exon 7 |
| C4 | c.782T>G | p.(Met261Arg) | VCV000800633 | Exon 7 | |
| C4 | c.782T>C | p.(Met261Tyr) | VCV000800634 | Exon 7 | |
| C3 | c.856G>T | p.(Ala286Ser) | VCV000800594 | Exon 7 | |
| C3 | c.1109G>C | p.(Arg370Pro) | VCV000800595 | Exon 8 | |
| C3 | c.1132G>T | p.(Asp378Tyr) | VCV000800596 | Exon 9 | |
| C3 | c.1170A>T | p.(Gln390His) | VCV000800597 | Exon 9 | |
| C3 | c.1201A>G | p.(Arg401Gly) | rs1451687726 | VCV000800598 | Exon 9 |
| C1 | c.1223-21C>T | rs755724055 | VCV000800599 | Intron 9 | |
| C3 | c.1223-3C>G | rs6460 | VCV000800600 | Intron 9 | |
| C5 | c.1272C>A | p.(Pro424*) | VCV000800601 | Exon 10 | |
| C5 | c.1291G>A | p.(Gly431Ser) | CD110266 | VCV000800602 | Exon 10 |
| C3 | c.1298C>G | p.(Pro433Arg) | VCV000800603 | Exon 10 | |
| C1 | c.1320C>T | p.(Phe440=) | rs1188690556 | VCV000800604 | Exon 10 |
| C3 | c.1371C>A | p.(Asp457Glu) | VCV000800605 | Exon 10 | |
| C3 | c.1405A>G | p.(Ser469Gly) | VCV000800606 | Exon 10 | |
| C3 | c.1447C>A | p.(Pro483Thr) | VCV000800607 | Exon 10 | |
| C4 | c.1450dup | p.(Arg484Profs*40) | VCV000800608 | Exon 10 | |
| C1 | c.*2G>C | CM1211226 | VCV000800609 | 3′UTR | |
| C1 | c.*18C>T | VCV000800610 | 3′UTR |