| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
| 16 | g.56870699T>A | CA395982250 | SLC12A3 | c.815T>A (p.Leu272Gln) c.812T>A (p.Leu271Gln) | |
| 16 | g.56870699T>C | CA250393 | SLC12A3 | c.815T>C (p.Leu272Pro) c.812T>C (p.Leu271Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870699T>G | CA395982251 | SLC12A3 | c.815T>G (p.Leu272Arg) c.812T>G (p.Leu271Arg) | |
| 16 | g.56870699T= | CA2224349565 | SLC12A3 | c.815T= (p.Leu272=) c.812T= (p.Leu271=) | |
| 16 | g.56870700G>A | CA495603214 | SLC12A3 | c.816G>A (p.Leu272=) c.813G>A (p.Leu271=) | |
| 16 | g.56870700G>C | CA495603215 | SLC12A3 | c.816G>C (p.Leu272=) c.813G>C (p.Leu271=) | |
| 16 | g.56870700G>T | CA495603216 | SLC12A3 | c.816G>T (p.Leu272=) c.813G>T (p.Leu271=) | |
| 16 | g.56870701dup | CA495603213 | SLC12A3 | c.817dup (p.Ala273GlyfsTer?) c.814dup (p.Ala272GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56870701G>A | CA395982252 | SLC12A3 | c.817G>A (p.Ala273Thr) c.814G>A (p.Ala272Thr) | gnomAD v4 |
| 16 | g.56870701G>C | CA395982253 | SLC12A3 | c.817G>C (p.Ala273Pro) c.814G>C (p.Ala272Pro) | gnomAD v4 |
| 16 | g.56870701G>T | CA395982254 | SLC12A3 | c.817G>T (p.Ala273Ser) c.814G>T (p.Ala272Ser) | |
| 16 | g.56870702C>A | CA395982255 | SLC12A3 | c.818C>A (p.Ala273Asp) c.815C>A (p.Ala272Asp) | |
| 16 | g.56870702C>G | CA395982256 | SLC12A3 | c.818C>G (p.Ala273Gly) c.815C>G (p.Ala272Gly) | |
| 16 | g.56870702C>T | CA395982257 | SLC12A3 | c.818C>T (p.Ala273Val) c.815C>T (p.Ala272Val) | |
| 16 | g.56870703C>A | CA495603217 | SLC12A3 | c.819C>A (p.Ala273=) c.816C>A (p.Ala272=) | gnomAD v4 |
| 16 | g.56870703C>G | CA495603218 | SLC12A3 | c.819C>G (p.Ala273=) c.816C>G (p.Ala272=) | |
| 16 | g.56870703C>T | CA495603219 | SLC12A3 | c.819C>T (p.Ala273=) c.816C>T (p.Ala272=) | |
| 16 | g.56870704A= | CA2224349566 | SLC12A3 | c.820A= (p.Ile274=) c.817A= (p.Ile273=) | |
| 16 | g.56870704A>C | CA8069219 | SLC12A3 | c.820A>C (p.Ile274Leu) c.817A>C (p.Ile273Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870704A>G | CA395982258 | SLC12A3 | c.820A>G (p.Ile274Val) c.817A>G (p.Ile273Val) | gnomAD v4 |
| 16 | g.56870704A>T | CA395982259 | SLC12A3 | c.820A>T (p.Ile274Phe) c.817A>T (p.Ile273Phe) | |
| 16 | g.56870705T>A | CA395982260 | SLC12A3 | c.821T>A (p.Ile274Asn) c.818T>A (p.Ile273Asn) | |
| 16 | g.56870705T>C | CA395982261 | SLC12A3 | c.821T>C (p.Ile274Thr) c.818T>C (p.Ile273Thr) | |
| 16 | g.56870705T>G | CA395982262 | SLC12A3 | c.821T>G (p.Ile274Ser) c.818T>G (p.Ile273Ser) | gnomAD v4 |
| 16 | g.56870707_56870708dup | CA2697555858 | SLC12A3 | c.823_824dup (p.Leu276ProfsTer27) c.820_821dup (p.Leu275ProfsTer27) | ClinVar |
| 16 | g.56870706C>A | CA495603220 | SLC12A3 | c.822C>A (p.Ile274=) c.819C>A (p.Ile273=) | ClinVar dbSNP |
| 16 | g.56870706C= | CA2224349567 | SLC12A3 | c.822C= (p.Ile274=) c.819C= (p.Ile273=) | |
| 16 | g.56870706C>G | CA395982263 | SLC12A3 | c.822C>G (p.Ile274Met) c.819C>G (p.Ile273Met) | gnomAD v4 |
| 16 | g.56870706C>T | CA495603221 | SLC12A3 | c.822C>T (p.Ile274=) c.819C>T (p.Ile273=) | |
| 16 | g.56870707T>A | CA395982266 | SLC12A3 | c.823T>A (p.Ser275Thr) c.820T>A (p.Ser274Thr) | gnomAD v4 |
| 16 | g.56870707T>C | CA395982264 | SLC12A3 | c.823T>C (p.Ser275Pro) c.820T>C (p.Ser274Pro) | COSMIC |
| 16 | g.56870707T>G | CA395982265 | SLC12A3 | c.823T>G (p.Ser275Ala) c.820T>G (p.Ser274Ala) | |
| 16 | g.56870707dup | CA977638335 | SLC12A3 | c.823dup (p.Ser275PhefsTer?) c.820dup (p.Ser274PhefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870708C>A | CA395982267 | SLC12A3 | c.824C>A (p.Ser275Tyr) c.821C>A (p.Ser274Tyr) | gnomAD v4 |
| 16 | g.56870708C>G | CA395982268 | SLC12A3 | c.824C>G (p.Ser275Cys) c.821C>G (p.Ser274Cys) | |
| 16 | g.56870708C>T | CA395982269 | SLC12A3 | c.824C>T (p.Ser275Phe) c.821C>T (p.Ser274Phe) | |
| 16 | g.56870709C>A | CA495603222 | SLC12A3 | c.825C>A (p.Ser275=) c.822C>A (p.Ser274=) | |
| 16 | g.56870709C= | CA2224349568 | SLC12A3 | c.825C= (p.Ser275=) c.822C= (p.Ser274=) | |
| 16 | g.56870709C>G | CA8069221 | SLC12A3 | c.825C>G (p.Ser275=) c.822C>G (p.Ser274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870709C>T | CA8069220 | SLC12A3 | c.825C>T (p.Ser275=) c.822C>T (p.Ser274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870710C>A | CA395982270 | SLC12A3 | c.826C>A (p.Leu276Met) c.823C>A (p.Leu275Met) | |
| 16 | g.56870710C>G | CA395982271 | SLC12A3 | c.826C>G (p.Leu276Val) c.823C>G (p.Leu275Val) | |
| 16 | g.56870710C>T | CA495603224 | SLC12A3 | c.826C>T (p.Leu276=) c.823C>T (p.Leu275=) | |
| 16 | g.56870711T>A | CA395982272 | SLC12A3 | c.827T>A (p.Leu276Gln) c.824T>A (p.Leu275Gln) | |
| 16 | g.56870711T>C | CA395982273 | SLC12A3 | c.827T>C (p.Leu276Pro) c.824T>C (p.Leu275Pro) | |
| 16 | g.56870711T>G | CA395982274 | SLC12A3 | c.827T>G (p.Leu276Arg) c.824T>G (p.Leu275Arg) | |
| 16 | g.56870712G>A | CA8069222 | SLC12A3 | c.828G>A (p.Leu276=) c.825G>A (p.Leu275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870712G>C | CA495603226 | SLC12A3 | c.828G>C (p.Leu276=) c.825G>C (p.Leu275=) | |
| 16 | g.56870712G= | CA2224349569 | SLC12A3 | c.828G= (p.Leu276=) c.825G= (p.Leu275=) |