| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6877805A>C | CA370230816 | DEFB1 | c.53T>G (p.Met18Arg) | gnomAD v4 |
| 8 | g.6877805A>G | CA370230818 | DEFB1 | c.53T>C (p.Met18Thr) | gnomAD v4 |
| 8 | g.6877805A>T | CA370230819 | DEFB1 | c.53T>A (p.Met18Lys) | |
| 8 | g.6877806T>A | CA370230822 | DEFB1 | c.52A>T (p.Met18Leu) | gnomAD v4 |
| 8 | g.6877806T>C | CA370230824 | DEFB1 | c.52A>G (p.Met18Val) | |
| 8 | g.6877806T>G | CA370230821 | DEFB1 | c.52A>C (p.Met18Leu) | |
| 8 | g.6877807C>A | CA370230827 | DEFB1 | c.51G>T (p.Glu17Asp) | |
| 8 | g.6877807C>G | CA370230826 | DEFB1 | c.51G>C (p.Glu17Asp) | |
| 8 | g.6877807C>T | CA459186176 | DEFB1 | c.51G>A (p.Glu17=) | |
| 8 | g.6877808T>A | CA370230830 | DEFB1 | c.50A>T (p.Glu17Val) | |
| 8 | g.6877808T>C | CA370230831 | DEFB1 | c.50A>G (p.Glu17Gly) | |
| 8 | g.6877808T>G | CA370230833 | DEFB1 | c.50A>C (p.Glu17Ala) | |
| 8 | g.6877809C>A | CA370230834 | DEFB1 | c.49G>T (p.Glu17Ter) | |
| 8 | g.6877809C= | CA1761188607 | DEFB1 | c.49G= (p.Glu17=) | |
| 8 | g.6877809C>G | CA4612876 | DEFB1 | c.49G>C (p.Glu17Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877809C>T | CA370230836 | DEFB1 | c.49G>A (p.Glu17Lys) | |
| 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) |