| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46704297T>A | CA406489128 | PRKD2 | c.761A>T (p.Asp254Val) c.290A>T (p.Asp97Val) c.41-3185A>T (n.41-3185A>T) | |
| 19 | g.46704297T>C | CA406489129 | PRKD2 | c.761A>G (p.Asp254Gly) c.290A>G (p.Asp97Gly) c.41-3185A>G (n.41-3185A>G) | |
| 19 | g.46704297T>G | CA406489131 | PRKD2 | c.761A>C (p.Asp254Ala) c.290A>C (p.Asp97Ala) c.41-3185A>C (n.41-3185A>C) | |
| 19 | g.46704298C>A | CA406489134 | PRKD2 | c.760G>T (p.Asp254Tyr) c.289G>T (p.Asp97Tyr) c.41-3186G>T (n.41-3186G>T) | |
| 19 | g.46704298C>G | CA406489135 | PRKD2 | c.760G>C (p.Asp254His) c.289G>C (p.Asp97His) c.41-3186G>C (n.41-3186G>C) | |
| 19 | g.46704298C>T | CA406489137 | PRKD2 | c.760G>A (p.Asp254Asn) c.289G>A (p.Asp97Asn) c.41-3186G>A (n.41-3186G>A) | |
| 19 | g.46704299C>A | CA9531041 | PRKD2 | c.759G>T (p.Leu253=) c.288G>T (p.Leu96=) c.41-3187G>T (n.41-3187G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46704299C= | CA2339041894 | PRKD2 | c.759G= (p.Leu253=) c.288G= (p.Leu96=) c.41-3187G= (n.41-3187G=) | |
| 19 | g.46704299C>G | CA507974867 | PRKD2 | c.759G>C (p.Leu253=) c.288G>C (p.Leu96=) c.41-3187G>C (n.41-3187G>C) | |
| 19 | g.46704299C>T | CA9531040 | PRKD2 | c.759G>A (p.Leu253=) c.288G>A (p.Leu96=) c.41-3187G>A (n.41-3187G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46704300A>C | CA406489141 | PRKD2 | c.758T>G (p.Leu253Arg) c.287T>G (p.Leu96Arg) c.41-3188T>G (n.41-3188T>G) | |
| 19 | g.46704300A>G | CA406489143 | PRKD2 | c.758T>C (p.Leu253Pro) c.287T>C (p.Leu96Pro) c.41-3188T>C (n.41-3188T>C) | |
| 19 | g.46704300A>T | CA406489144 | PRKD2 | c.758T>A (p.Leu253Gln) c.287T>A (p.Leu96Gln) c.41-3188T>A (n.41-3188T>A) | |
| 19 | g.46704301G>A | CA507974868 | PRKD2 | c.757C>T (p.Leu253=) c.286C>T (p.Leu96=) c.41-3189C>T (n.41-3189C>T) | dbSNP gnomAD v4 |
| 19 | g.46704301G>C | CA406489146 | PRKD2 | c.757C>G (p.Leu253Val) c.286C>G (p.Leu96Val) c.41-3189C>G (n.41-3189C>G) | gnomAD v4 |
| 19 | g.46704301G= | CA2339041895 | PRKD2 | c.757C= (p.Leu253=) c.286C= (p.Leu96=) c.41-3189C= (n.41-3189C=) | |
| 19 | g.46704301G>T | CA406489147 | PRKD2 | c.757C>A (p.Leu253Met) c.286C>A (p.Leu96Met) c.41-3189C>A (n.41-3189C>A) | |
| 19 | g.46704302C>A | CA406489149 | PRKD2 | c.756G>T (p.Glu252Asp) c.285G>T (p.Glu95Asp) c.41-3190G>T (n.41-3190G>T) | |
| 19 | g.46704302C>G | CA406489150 | PRKD2 | c.756G>C (p.Glu252Asp) c.285G>C (p.Glu95Asp) c.41-3190G>C (n.41-3190G>C) | gnomAD v4 |
| 19 | g.46704302C>T | CA507974871 | PRKD2 | c.756G>A (p.Glu252=) c.285G>A (p.Glu95=) c.41-3190G>A (n.41-3190G>A) | |
| 19 | g.46704303T>A | CA406489151 | PRKD2 | c.755A>T (p.Glu252Val) c.284A>T (p.Glu95Val) c.41-3191A>T (n.41-3191A>T) | |
| 19 | g.46704303T>C | CA406489152 | PRKD2 | c.755A>G (p.Glu252Gly) c.284A>G (p.Glu95Gly) c.41-3191A>G (n.41-3191A>G) | |
| 19 | g.46704303T>G | CA406489153 | PRKD2 | c.755A>C (p.Glu252Ala) c.284A>C (p.Glu95Ala) c.41-3191A>C (n.41-3191A>C) | |
| 19 | g.46704304C>A | CA406489154 | PRKD2 | c.754G>T (p.Glu252Ter) c.283G>T (p.Glu95Ter) c.41-3192G>T (n.41-3192G>T) | |
| 19 | g.46704304C= | CA2339041896 | PRKD2 | c.754G= (p.Glu252=) c.283G= (p.Glu95=) c.41-3192G= (n.41-3192G=) | |
| 19 | g.46704304C>G | CA406489156 | PRKD2 | c.754G>C (p.Glu252Gln) c.283G>C (p.Glu95Gln) c.41-3192G>C (n.41-3192G>C) | |
| 19 | g.46704304C>T | CA9531042 | PRKD2 | c.754G>A (p.Glu252Lys) c.283G>A (p.Glu95Lys) c.41-3192G>A (n.41-3192G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46704305A= | CA2339041897 | PRKD2 | c.753T= (p.Ile251=) c.282T= (p.Ile94=) c.41-3193T= (n.41-3193T=) | |
| 19 | g.46704305A>C | CA406489158 | PRKD2 | c.753T>G (p.Ile251Met) c.282T>G (p.Ile94Met) c.41-3193T>G (n.41-3193T>G) | |
| 19 | g.46704305A>G | CA9531043 | PRKD2 | c.753T>C (p.Ile251=) c.282T>C (p.Ile94=) c.41-3193T>C (n.41-3193T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46704305A>T | CA507974874 | PRKD2 | c.753T>A (p.Ile251=) c.282T>A (p.Ile94=) c.41-3193T>A (n.41-3193T>A) | |
| 19 | g.46704306A= | CA2339041898 | PRKD2 | c.752T= (p.Ile251=) c.281T= (p.Ile94=) c.41-3194T= (n.41-3194T=) | |
| 19 | g.46704306A>C | CA406489160 | PRKD2 | c.752T>G (p.Ile251Ser) c.281T>G (p.Ile94Ser) c.41-3194T>G (n.41-3194T>G) | |
| 19 | g.46704306A>G | CA309105313 | PRKD2 | c.752T>C (p.Ile251Thr) c.281T>C (p.Ile94Thr) c.41-3194T>C (n.41-3194T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46704306A>T | CA406489163 | PRKD2 | c.752T>A (p.Ile251Asn) c.281T>A (p.Ile94Asn) c.41-3194T>A (n.41-3194T>A) | |
| 19 | g.46704307T>A | CA406489165 | PRKD2 | c.751A>T (p.Ile251Phe) c.280A>T (p.Ile94Phe) c.41-3195A>T (n.41-3195A>T) | |
| 19 | g.46704307T>C | CA9531044 | PRKD2 | c.751A>G (p.Ile251Val) c.280A>G (p.Ile94Val) c.41-3195A>G (n.41-3195A>G) | dbSNP ExAC gnomAD v4 |
| 19 | g.46704307T>G | CA406489168 | PRKD2 | c.751A>C (p.Ile251Leu) c.280A>C (p.Ile94Leu) c.41-3195A>C (n.41-3195A>C) | |
| 19 | g.46704307T= | CA2339041899 | PRKD2 | c.751A= (p.Ile251=) c.280A= (p.Ile94=) c.41-3195A= (n.41-3195A=) | |
| 19 | g.46704308G>A | CA507974875 | PRKD2 | c.750C>T (p.Pro250=) c.279C>T (p.Pro93=) c.41-3196C>T (n.41-3196C>T) | |
| 19 | g.46704308G>C | CA507974876 | PRKD2 | c.750C>G (p.Pro250=) c.279C>G (p.Pro93=) c.41-3196C>G (n.41-3196C>G) | |
| 19 | g.46704308G>T | CA507974877 | PRKD2 | c.750C>A (p.Pro250=) c.279C>A (p.Pro93=) c.41-3196C>A (n.41-3196C>A) | |
| 19 | g.46704309G>A | CA406489174 | PRKD2 | c.749C>T (p.Pro250Leu) c.278C>T (p.Pro93Leu) c.41-3197C>T (n.41-3197C>T) | |
| 19 | g.46704309G>C | CA406489172 | PRKD2 | c.749C>G (p.Pro250Arg) c.278C>G (p.Pro93Arg) c.41-3197C>G (n.41-3197C>G) | |
| 19 | g.46704309G>T | CA406489170 | PRKD2 | c.749C>A (p.Pro250His) c.278C>A (p.Pro93His) c.41-3197C>A (n.41-3197C>A) | |
| 19 | g.46704310G>A | CA406489175 | PRKD2 | c.748C>T (p.Pro250Ser) c.277C>T (p.Pro93Ser) c.41-3198C>T (n.41-3198C>T) | |
| 19 | g.46704310G>C | CA406489177 | PRKD2 | c.748C>G (p.Pro250Ala) c.277C>G (p.Pro93Ala) c.41-3198C>G (n.41-3198C>G) | |
| 19 | g.46704310G>T | CA406489179 | PRKD2 | c.748C>A (p.Pro250Thr) c.277C>A (p.Pro93Thr) c.41-3198C>A (n.41-3198C>A) | |
| 19 | g.46704311G>A | CA507974878 | PRKD2 | c.747C>T (p.Arg249=) c.276C>T (p.Arg92=) c.41-3199C>T (n.41-3199C>T) | |
| 19 | g.46704311G>C | CA507974880 | PRKD2 | c.747C>G (p.Arg249=) c.276C>G (p.Arg92=) c.41-3199C>G (n.41-3199C>G) |