| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17392124_17392129dup | CA891292788 | PADI6 | c.973_978dup (p.Gln326_Gly327insLeuGln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17392121C>A | CA338255097 | PADI6 | c.970C>A (p.Gln324Lys) | gnomAD v4 |
| 1 | g.17392121C= | CA1156216860 | PADI6 | c.970C= (p.Gln324=) | |
| 1 | g.17392121C>G | CA338255100 | PADI6 | c.970C>G (p.Gln324Glu) | |
| 1 | g.17392121C>T | CA16042253 | PADI6 | c.970C>T (p.Gln324Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.17392122A>C | CA338255106 | PADI6 | c.971A>C (p.Gln324Pro) | gnomAD v4 |
| 1 | g.17392122A>G | CA338255107 | PADI6 | c.971A>G (p.Gln324Arg) | |
| 1 | g.17392122A>T | CA338255105 | PADI6 | c.971A>T (p.Gln324Leu) | |
| 1 | g.17392123G>A | CA2643700895 | PADI6 | c.972G>A (p.Gln324=) | gnomAD v4 |
| 1 | g.17392123G>C | CA338255110 | PADI6 | c.972G>C (p.Gln324His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17392123G= | CA1156216874 | PADI6 | c.972G= (p.Gln324=) | |
| 1 | g.17392123G>T | CA338255112 | PADI6 | c.972G>T (p.Gln324His) | gnomAD v4 |
| 1 | g.17392124C>A | CA338255115 | PADI6 | c.973C>A (p.Leu325Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17392124C= | CA1156216881 | PADI6 | c.973C= (p.Leu325=) | |
| 1 | g.17392124C>G | CA338255117 | PADI6 | c.973C>G (p.Leu325Val) | |
| 1 | g.17392125T>A | CA338255118 | PADI6 | c.974T>A (p.Leu325Gln) | |
| 1 | g.17392125T>C | CA338255119 | PADI6 | c.974T>C (p.Leu325Pro) | gnomAD v4 |
| 1 | g.17392125T>G | CA338255120 | PADI6 | c.974T>G (p.Leu325Arg) | |
| 1 | g.17392126G>A | CA2643700898 | PADI6 | c.975G>A (p.Leu325=) | gnomAD v4 |
| 1 | g.17392126G= | CA1156216883 | PADI6 | c.975G= (p.Leu325=) | |
| 1 | g.17392126G>T | CA1156216890 | PADI6 | c.975G>T (p.Leu325=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17392127C>A | CA338255121 | PADI6 | c.976C>A (p.Gln326Lys) | gnomAD v4 |
| 1 | g.17392127C>G | CA338255122 | PADI6 | c.976C>G (p.Gln326Glu) | gnomAD v4 |
| 1 | g.17392127C>T | CA338255124 | PADI6 | c.976C>T (p.Gln326Ter) | gnomAD v4 |
| 1 | g.17392128A= | CA1156216933 | PADI6 | c.977A= (p.Gln326=) | |
| 1 | g.17392128A>C | CA338255126 | PADI6 | c.977A>C (p.Gln326Pro) | |
| 1 | g.17392128A>G | CA18645958 | PADI6 | c.977A>G (p.Gln326Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17392128A>T | CA338255131 | PADI6 | c.977A>T (p.Gln326Leu) | gnomAD v4 |
| 1 | g.17392129G>A | CA18645961 | PADI6 | c.978G>A (p.Gln326=) | dbSNP gnomAD v4 |
| 1 | g.17392129G>C | CA338255138 | PADI6 | c.978G>C (p.Gln326His) | |
| 1 | g.17392129G= | CA1156216939 | PADI6 | c.978G= (p.Gln326=) | |
| 1 | g.17392129G>T | CA338255135 | PADI6 | c.978G>T (p.Gln326His) | dbSNP gnomAD v4 |
| 1 | g.17392130G>A | CA338255141 | PADI6 | c.979G>A (p.Gly327Ser) | |
| 1 | g.17392130G>C | CA18645976 | PADI6 | c.979G>C (p.Gly327Arg) | dbSNP gnomAD v4 |
| 1 | g.17392130G= | CA1156216951 | PADI6 | c.979G= (p.Gly327=) | |
| 1 | g.17392130G>T | CA338255144 | PADI6 | c.979G>T (p.Gly327Cys) | gnomAD v4 |
| 1 | g.17392130_17392131insTGCT | CA2742648986 | PADI6 | c.979_980insTGCT (p.Gly327ValfsTer12) | |
| 1 | g.17392131G>A | CA338255145 | PADI6 | c.980G>A (p.Gly327Asp) | |
| 1 | g.17392131G>C | CA338255146 | PADI6 | c.980G>C (p.Gly327Ala) | |
| 1 | g.17392131G>T | CA338255148 | PADI6 | c.980G>T (p.Gly327Val) | gnomAD v4 |
| 1 | g.17392132T>A | CA2643700910 | PADI6 | c.981T>A (p.Gly327=) | gnomAD v4 |
| 1 | g.17392132T>C | CA2643700911 | PADI6 | c.981T>C (p.Gly327=) | gnomAD v4 |
| 1 | g.17392132T>G | CA891292818 | PADI6 | c.981T>G (p.Gly327=) | dbSNP gnomAD v4 |
| 1 | g.17392132T= | CA1156216957 | PADI6 | c.981T= (p.Gly327=) | |
| 1 | g.17392135dup | CA2574238237 | PADI6 | c.984dup (p.Val329CysfsTer9) | |
| 1 | g.17392135del | CA2643700909 | PADI6 | c.984del (p.Phe328LeufsTer5) | gnomAD v4 |
| 1 | g.17392133T>A | CA338255150 | PADI6 | c.982T>A (p.Phe328Ile) | |
| 1 | g.17392133T>C | CA338255152 | PADI6 | c.982T>C (p.Phe328Leu) | |
| 1 | g.17392133T>G | CA338255154 | PADI6 | c.982T>G (p.Phe328Val) | |
| 1 | g.17392134T>A | CA338255158 | PADI6 | c.983T>A (p.Phe328Tyr) | gnomAD v4 |