| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6877810A>C | CA459186197 | DEFB1 | c.48T>G (p.Ser16=) | |
| 8 | g.6877810A>G | CA459186200 | DEFB1 | c.48T>C (p.Ser16=) | |
| 8 | g.6877810A>T | CA459186203 | DEFB1 | c.48T>A (p.Ser16=) | |
| 8 | g.6877811G>A | CA370230837 | DEFB1 | c.47C>T (p.Ser16Phe) | |
| 8 | g.6877811G>C | CA370230838 | DEFB1 | c.47C>G (p.Ser16Cys) | |
| 8 | g.6877811G>T | CA370230840 | DEFB1 | c.47C>A (p.Ser16Tyr) | gnomAD v4 |
| 8 | g.6877812A>C | CA370230842 | DEFB1 | c.46T>G (p.Ser16Ala) | |
| 8 | g.6877812A>G | CA370230844 | DEFB1 | c.46T>C (p.Ser16Pro) | |
| 8 | g.6877812A>T | CA370230845 | DEFB1 | c.46T>A (p.Ser16Thr) | |
| 8 | g.6877813C>A | CA370230847 | DEFB1 | c.45G>T (p.Leu15Phe) | |
| 8 | g.6877813C= | CA1761188608 | DEFB1 | c.45G= (p.Leu15=) | |
| 8 | g.6877813C>G | CA4612877 | DEFB1 | c.45G>C (p.Leu15Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877813C>T | CA459186229 | DEFB1 | c.45G>A (p.Leu15=) | |
| 8 | g.6877814A>C | CA370230848 | DEFB1 | c.44T>G (p.Leu15Trp) | |
| 8 | g.6877814A>G | CA370230850 | DEFB1 | c.44T>C (p.Leu15Ser) | |
| 8 | g.6877814A>T | CA370230852 | DEFB1 | c.44T>A (p.Leu15Ter) | |
| 8 | g.6877817del | CA579664783 | DEFB1 | c.44del (p.Leu15CysfsTer?) | gnomAD v2 gnomAD v4 |
| 8 | g.6877815A>C | CA370230853 | DEFB1 | c.43T>G (p.Leu15Val) | |
| 8 | g.6877815A>G | CA459186246 | DEFB1 | c.43T>C (p.Leu15=) | |
| 8 | g.6877815A>T | CA370230855 | DEFB1 | c.43T>A (p.Leu15Met) | |
| 8 | g.6877816A= | CA1761188609 | DEFB1 | c.42T= (p.Leu14=) | |
| 8 | g.6877816A>C | CA459186253 | DEFB1 | c.42T>G (p.Leu14=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877816A>G | CA459186258 | DEFB1 | c.42T>C (p.Leu14=) | |
| 8 | g.6877816A>T | CA459186262 | DEFB1 | c.42T>A (p.Leu14=) | |
| 8 | g.6877817A>C | CA370230857 | DEFB1 | c.41T>G (p.Leu14Arg) | |
| 8 | g.6877817A>G | CA370230858 | DEFB1 | c.41T>C (p.Leu14Pro) | |
| 8 | g.6877817A>T | CA370230859 | DEFB1 | c.41T>A (p.Leu14His) | |
| 8 | g.6877818G>A | CA370230861 | DEFB1 | c.40C>T (p.Leu14Phe) | |
| 8 | g.6877818G>C | CA370230862 | DEFB1 | c.40C>G (p.Leu14Val) | |
| 8 | g.6877818G>T | CA370230864 | DEFB1 | c.40C>A (p.Leu14Ile) | |
| 8 | g.6877819T>A | CA370230866 | DEFB1 | c.39A>T (p.Leu13Phe) | |
| 8 | g.6877819T>C | CA459186284 | DEFB1 | c.39A>G (p.Leu13=) | |
| 8 | g.6877819T>G | CA370230867 | DEFB1 | c.39A>C (p.Leu13Phe) | |
| 8 | g.6877820A>C | CA370230872 | DEFB1 | c.38T>G (p.Leu13Ter) | |
| 8 | g.6877820A>G | CA370230871 | DEFB1 | c.38T>C (p.Leu13Ser) | |
| 8 | g.6877820A>T | CA370230869 | DEFB1 | c.38T>A (p.Leu13Ter) | gnomAD v4 |
| 8 | g.6877821A>C | CA370230874 | DEFB1 | c.37T>G (p.Leu13Val) | |
| 8 | g.6877821A>G | CA459186295 | DEFB1 | c.37T>C (p.Leu13=) | |
| 8 | g.6877821A>T | CA370230876 | DEFB1 | c.37T>A (p.Leu13Ile) | |
| 8 | g.6877822G>A | CA4612878 | DEFB1 | c.36C>T (p.Cys12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877822G>C | CA370230878 | DEFB1 | c.36C>G (p.Cys12Trp) | |
| 8 | g.6877822G= | CA1761188610 | DEFB1 | c.36C= (p.Cys12=) | |
| 8 | g.6877822G>T | CA370230880 | DEFB1 | c.36C>A (p.Cys12Ter) | |
| 8 | g.6877823C>A | CA370230882 | DEFB1 | c.35G>T (p.Cys12Phe) | |
| 8 | g.6877823C= | CA1761188612 | DEFB1 | c.35G= (p.Cys12=) | |
| 8 | g.6877823C>G | CA370230884 | DEFB1 | c.35G>C (p.Cys12Ser) | |
| 8 | g.6877823C>T | CA4612879 | DEFB1 | c.35G>A (p.Cys12Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877823_6877824delinsCA | CA1761188611 | DEFB1 | c.34_35delinsTG (p.Cys12=) | |
| 8 | g.6877824del | CA4612880 | DEFB1 | c.34del (p.Cys12AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877824A>C | CA370230885 | DEFB1 | c.34T>G (p.Cys12Gly) |