| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
| 16 | g.56870672_56870689dup | CA2695223676 | SLC12A3 | c.788_805dup (p.Val268_Thr269insIleAlaValValSerVal) c.785_802dup (p.Val267_Thr268insIleAlaValValSerVal) | |
| 16 | g.56870674_56870675delinsGC | CA2224349552 | SLC12A3 | c.790_791delinsGC (p.Ala264=) c.787_788delinsGC (p.Ala263=) | |
| 16 | g.56870675C>A | CA395982211 | SLC12A3 | c.791C>A (p.Ala264Asp) c.788C>A (p.Ala263Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870675C= | CA2224349553 | SLC12A3 | c.791C= (p.Ala264=) c.788C= (p.Ala263=) | |
| 16 | g.56870675C>G | CA8069208 | SLC12A3 | c.791C>G (p.Ala264Gly) c.788C>G (p.Ala263Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870675C>T | CA395982212 | SLC12A3 | c.791C>T (p.Ala264Val) c.788C>T (p.Ala263Val) | |
| 16 | g.56870675delinsGCGTGGTCTCGGTCATTGG | CA1139664709 | SLC12A3 | c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly) c.788delinsGCGTGGTCTCGGTCATTGG (p.Ala263delinsGlyValValSerValIleGly) | dbSNP |
| 16 | g.56870675_56870676delinsGA | CA2573152449 | SLC12A3 | c.791_792delinsGA (p.Ala264Gly) c.788_789delinsGA (p.Ala263Gly) | ClinVar dbSNP |
| 16 | g.56870675_56870676delinsGT | CA2499223589 | SLC12A3 | c.791_792delinsGT (p.Ala264Gly) c.788_789delinsGT (p.Ala263Gly) | dbSNP |
| 16 | g.56870675_56870676insGTGGTCTCGGTCATTGG | CA8069209 | SLC12A3 | c.791_792insGTGGTCTCGGTCATTGG (p.Val265TrpfsTer?) c.788_789insGTGGTCTCGGTCATTGG (p.Val264TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870676C>A | CA495603192 | SLC12A3 | c.792C>A (p.Ala264=) c.789C>A (p.Ala263=) c.792C>A (p.Gly264=) c.789C>A (p.Gly263=) | gnomAD v4 |
| 16 | g.56870676C= | CA2224349554 | SLC12A3 | c.792C= (p.Ala264=) c.789C= (p.Ala263=) c.792C= (p.Gly264=) c.789C= (p.Gly263=) | |
| 16 | g.56870676C>G | CA495603191 | SLC12A3 | c.792C>G (p.Ala264=) c.789C>G (p.Ala263=) c.792C>G (p.Gly264=) c.789C>G (p.Gly263=) | |
| 16 | g.56870676C>T | CA8069210 | SLC12A3 | c.792C>T (p.Ala264=) c.789C>T (p.Ala263=) c.792C>T (p.Gly264=) c.789C>T (p.Gly263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870689_56870690insTTGGCGTGGTCTCGGTCA | CA2695201714 | SLC12A3 | c.805_806insTTGGCGTGGTCTCGGTCA (p.Val268_Thr269insIleGlyValValSerVal) c.802_803insTTGGCGTGGTCTCGGTCA (p.Val267_Thr268insIleGlyValValSerVal) | |
| 16 | g.56870677G>A | CA8069211 | SLC12A3 | c.793G>A (p.Val265Met) c.790G>A (p.Val264Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870677G>C | CA395982214 | SLC12A3 | c.793G>C (p.Val265Leu) c.790G>C (p.Val264Leu) | dbSNP |
| 16 | g.56870677G= | CA2224349555 | SLC12A3 | c.793G= (p.Val265=) c.790G= (p.Val264=) | |
| 16 | g.56870677G>T | CA395982213 | SLC12A3 | c.793G>T (p.Val265Leu) c.790G>T (p.Val264Leu) | |
| 16 | g.56870678T>A | CA395982215 | SLC12A3 | c.794T>A (p.Val265Glu) c.791T>A (p.Val264Glu) | |
| 16 | g.56870678T>C | CA395982216 | SLC12A3 | c.794T>C (p.Val265Ala) c.791T>C (p.Val264Ala) | |
| 16 | g.56870678T>G | CA395982217 | SLC12A3 | c.794T>G (p.Val265Gly) c.791T>G (p.Val264Gly) | dbSNP |
| 16 | g.56870679G>A | CA8069212 | SLC12A3 | c.795G>A (p.Val265=) c.792G>A (p.Val264=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870679G>C | CA495603193 | SLC12A3 | c.795G>C (p.Val265=) c.792G>C (p.Val264=) | |
| 16 | g.56870679G= | CA2224349556 | SLC12A3 | c.795G= (p.Val265=) c.792G= (p.Val264=) | |
| 16 | g.56870679G>T | CA495603194 | SLC12A3 | c.795G>T (p.Val265=) c.792G>T (p.Val264=) | |
| 16 | g.56870680G>A | CA395982218 | SLC12A3 | c.796G>A (p.Val266Ile) c.793G>A (p.Val265Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870680G>C | CA395982219 | SLC12A3 | c.796G>C (p.Val266Leu) c.793G>C (p.Val265Leu) | |
| 16 | g.56870680G= | CA2224349557 | SLC12A3 | c.796G= (p.Val266=) c.793G= (p.Val265=) | |
| 16 | g.56870680G>T | CA395982220 | SLC12A3 | c.796G>T (p.Val266Phe) c.793G>T (p.Val265Phe) | |
| 16 | g.56870681T>A | CA395982221 | SLC12A3 | c.797T>A (p.Val266Asp) c.794T>A (p.Val265Asp) | |
| 16 | g.56870681T>C | CA395982222 | SLC12A3 | c.797T>C (p.Val266Ala) c.794T>C (p.Val265Ala) | |
| 16 | g.56870681T>G | CA395982223 | SLC12A3 | c.797T>G (p.Val266Gly) c.794T>G (p.Val265Gly) | |
| 16 | g.56870682C>A | CA495603195 | SLC12A3 | c.798C>A (p.Val266=) c.795C>A (p.Val265=) | |
| 16 | g.56870682C>G | CA495603196 | SLC12A3 | c.798C>G (p.Val266=) c.795C>G (p.Val265=) | gnomAD v3 gnomAD v4 |
| 16 | g.56870682C>T | CA495603197 | SLC12A3 | c.798C>T (p.Val266=) c.795C>T (p.Val265=) | |
| 16 | g.56870683T>A | CA8069213 | SLC12A3 | c.799T>A (p.Ser267Thr) c.796T>A (p.Ser266Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870683T>C | CA395982225 | SLC12A3 | c.799T>C (p.Ser267Pro) c.796T>C (p.Ser266Pro) | |
| 16 | g.56870683T>G | CA395982224 | SLC12A3 | c.799T>G (p.Ser267Ala) c.796T>G (p.Ser266Ala) | |
| 16 | g.56870683T= | CA2224349558 | SLC12A3 | c.799T= (p.Ser267=) c.796T= (p.Ser266=) | |
| 16 | g.56870684C>A | CA395982226 | SLC12A3 | c.800C>A (p.Ser267Ter) c.797C>A (p.Ser266Ter) | |
| 16 | g.56870684C= | CA2224349559 | SLC12A3 | c.800C= (p.Ser267=) c.797C= (p.Ser266=) | |
| 16 | g.56870684C>G | CA395982227 | SLC12A3 | c.800C>G (p.Ser267Trp) c.797C>G (p.Ser266Trp) | |
| 16 | g.56870684C>T | CA8069214 | SLC12A3 | c.800C>T (p.Ser267Leu) c.797C>T (p.Ser266Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870685G>A | CA8069215 | SLC12A3 | c.801G>A (p.Ser267=) c.798G>A (p.Ser266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870685G>C | CA281497059 | SLC12A3 | c.801G>C (p.Ser267=) c.798G>C (p.Ser266=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870685G= | CA2224349560 | SLC12A3 | c.801G= (p.Ser267=) c.798G= (p.Ser266=) | |
| 16 | g.56870685G>T | CA495603198 | SLC12A3 | c.801G>T (p.Ser267=) c.798G>T (p.Ser266=) | |
| 16 | g.56870686G>A | CA8069216 | SLC12A3 | c.802G>A (p.Val268Ile) c.799G>A (p.Val267Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |