| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6870654_6870677dup | CA2686022917 | DEFB1 | c.*4_*27dup (n.*4_*27dup) | gnomAD v4 |
| 8 | g.6870674_6870676delinsTCC | CA1761183463 | DEFB1 | c.*5_*7delinsGGA (n.*5_*7delinsGGA) | |
| 8 | g.6870675_6870676delinsT | CA918193943 | DEFB1 | c.*5_*6delinsA (n.*5_*6delinsA) | dbSNP |
| 8 | g.6870677del | CA918193942 | DEFB1 | c.*6del (n.*6del) | dbSNP |
| 8 | g.6870676C>A | CA2580794840 | DEFB1 | c.*5G>T (n.*5G>T) | gnomAD v4 |
| 8 | g.6870676C= | CA1761183466 | DEFB1 | c.*5G= (n.*5G=) | |
| 8 | g.6870676C>G | CA2580794839 | DEFB1 | c.*5G>C (n.*5G>C) | gnomAD v4 |
| 8 | g.6870676C>T | CA4612751 | DEFB1 | c.*5G>A (n.*5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6870677C>A | CA580028735 | DEFB1 | c.*4G>T (n.*4G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6870677C= | CA1761183467 | DEFB1 | c.*4G= (n.*4G=) | |
| 8 | g.6870677C>T | CA4612752 | DEFB1 | c.*4G>A (n.*4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6870678A>G | CA2686022925 | DEFB1 | c.*3T>C (n.*3T>C) | gnomAD v4 |
| 8 | g.6870679G>A | CA1761183469 | DEFB1 | c.*2C>T (n.*2C>T) | dbSNP gnomAD v4 |
| 8 | g.6870679G>C | CA4612754 | DEFB1 | c.*2C>G (n.*2C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6870679G= | CA1761183468 | DEFB1 | c.*2C= (n.*2C=) | |
| 8 | g.6870679G>T | CA4612753 | DEFB1 | c.*2C>A (n.*2C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6870680C>G | CA2579088517 | DEFB1 | c.*1G>C (n.*1G>C) | gnomAD v4 |
| 8 | g.6870681T>A | CA370230441 | DEFB1 | c.207A>T (p.Ter69Cys) | |
| 8 | g.6870681T>C | CA370230442 | DEFB1 | c.207A>G (p.Ter69Trp) | dbSNP |
| 8 | g.6870681T>G | CA370230443 | DEFB1 | c.207A>C (p.Ter69Cys) | |
| 8 | g.6870681T= | CA1761183470 | DEFB1 | c.207A= (p.Ter69=) | |
| 8 | g.6870682C>A | CA370230444 | DEFB1 | c.206G>T (p.Ter69Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870682C= | CA1761183471 | DEFB1 | c.206G= (p.Ter69=) | |
| 8 | g.6870682C>G | CA370230445 | DEFB1 | c.206G>C (p.Ter69Ser) | dbSNP gnomAD v4 |
| 8 | g.6870682C>T | CA459181331 | DEFB1 | c.206G>A (p.Ter69=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6870683A= | CA1761183472 | DEFB1 | c.205T= (p.Ter69=) | |
| 8 | g.6870683A>C | CA370230446 | DEFB1 | c.205T>G (p.Ter69Gly) | gnomAD v4 |
| 8 | g.6870683A>G | CA4612755 | DEFB1 | c.205T>C (p.Ter69Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6870683A>T | CA370230447 | DEFB1 | c.205T>A (p.Ter69Arg) | gnomAD v4 |
| 8 | g.6870684C>A | CA370230448 | DEFB1 | c.204G>T (p.Lys68Asn) | |
| 8 | g.6870684C= | CA1761183473 | DEFB1 | c.204G= (p.Lys68=) | |
| 8 | g.6870684C>G | CA370230449 | DEFB1 | c.204G>C (p.Lys68Asn) | dbSNP gnomAD v4 |
| 8 | g.6870684C>T | CA459181337 | DEFB1 | c.204G>A (p.Lys68=) | |
| 8 | g.6870685T>A | CA370230452 | DEFB1 | c.203A>T (p.Lys68Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870685T>C | CA370230451 | DEFB1 | c.203A>G (p.Lys68Arg) | gnomAD v4 |
| 8 | g.6870685T>G | CA370230450 | DEFB1 | c.203A>C (p.Lys68Thr) | |
| 8 | g.6870685T= | CA1761183474 | DEFB1 | c.203A= (p.Lys68=) | |
| 8 | g.6870686T>A | CA370230453 | DEFB1 | c.202A>T (p.Lys68Ter) | |
| 8 | g.6870686T>C | CA370230454 | DEFB1 | c.202A>G (p.Lys68Glu) | gnomAD v4 |
| 8 | g.6870686T>G | CA370230455 | DEFB1 | c.202A>C (p.Lys68Gln) | gnomAD v4 |
| 8 | g.6870687G>A | CA459181344 | DEFB1 | c.201C>T (p.Cys67=) | |
| 8 | g.6870687G>C | CA370230456 | DEFB1 | c.201C>G (p.Cys67Trp) | |
| 8 | g.6870687G>T | CA370230457 | DEFB1 | c.201C>A (p.Cys67Ter) | gnomAD v4 |
| 8 | g.6870688C>A | CA370230458 | DEFB1 | c.200G>T (p.Cys67Phe) | |
| 8 | g.6870688C= | CA1761183475 | DEFB1 | c.200G= (p.Cys67=) | |
| 8 | g.6870688C>G | CA370230459 | DEFB1 | c.200G>C (p.Cys67Ser) | |
| 8 | g.6870688C>T | CA4612756 | DEFB1 | c.200G>A (p.Cys67Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6870689A= | CA1761183476 | DEFB1 | c.199T= (p.Cys67=) | |
| 8 | g.6870689A>C | CA370230460 | DEFB1 | c.199T>G (p.Cys67Gly) | dbSNP gnomAD v4 |
| 8 | g.6870689A>G | CA4612758 | DEFB1 | c.199T>C (p.Cys67Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |