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.56870689_56870690insTTGGCGTGGTCTCGGTCA | CA2695201714 | SLC12A3 | c.805_806insTTGGCGTGGTCTCGGTCA (p.Val268_Thr269insIleGlyValValSerVal) c.802_803insTTGGCGTGGTCTCGGTCA (p.Val267_Thr268insIleGlyValValSerVal) | |
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=) | ClinVar 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 |
16 | g.56870686G>C | CA395982228 | SLC12A3 | c.802G>C (p.Val268Leu) c.799G>C (p.Val267Leu) | |
16 | g.56870686G= | CA2224349561 | SLC12A3 | c.802G= (p.Val268=) c.799G= (p.Val267=) | |
16 | g.56870686G>T | CA8069217 | SLC12A3 | c.802G>T (p.Val268Phe) c.799G>T (p.Val267Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870687T>A | CA281497072 | SLC12A3 | c.803T>A (p.Val268Asp) c.800T>A (p.Val267Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870687T>C | CA395982230 | SLC12A3 | c.803T>C (p.Val268Ala) c.800T>C (p.Val267Ala) | |
16 | g.56870687T>G | CA395982229 | SLC12A3 | c.803T>G (p.Val268Gly) c.800T>G (p.Val267Gly) | |
16 | g.56870687T= | CA2224349562 | SLC12A3 | c.803T= (p.Val268=) c.800T= (p.Val267=) | |
16 | g.56870688C>A | CA495603199 | SLC12A3 | c.804C>A (p.Val268=) c.801C>A (p.Val267=) | |
16 | g.56870688C= | CA2224349563 | SLC12A3 | c.804C= (p.Val268=) c.801C= (p.Val267=) | |
16 | g.56870688C>G | CA495603200 | SLC12A3 | c.804C>G (p.Val268=) c.801C>G (p.Val267=) | |
16 | g.56870688C>T | CA8069218 | SLC12A3 | c.804C>T (p.Val268=) c.801C>T (p.Val267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870689A>C | CA395982231 | SLC12A3 | c.805A>C (p.Thr269Pro) c.802A>C (p.Thr268Pro) | |
16 | g.56870689A>G | CA395982232 | SLC12A3 | c.805A>G (p.Thr269Ala) c.802A>G (p.Thr268Ala) | gnomAD v4 COSMIC |
16 | g.56870689A>T | CA395982233 | SLC12A3 | c.805A>T (p.Thr269Ser) c.802A>T (p.Thr268Ser) | |
16 | g.56870689_56870690insTTGGCGTGGTCTCGGTCG | CA2739290804 | SLC12A3 | c.805_806insTTGGCGTGGTCTCGGTCG (p.Thr269delinsIleGlyValValSerValAla) c.802_803insTTGGCGTGGTCTCGGTCG (p.Thr268delinsIleGlyValValSerValAla) | |
16 | g.56870690C>A | CA395982234 | SLC12A3 | c.806C>A (p.Thr269Asn) c.803C>A (p.Thr268Asn) | |
16 | g.56870690C>G | CA395982236 | SLC12A3 | c.806C>G (p.Thr269Ser) c.803C>G (p.Thr268Ser) | |
16 | g.56870690C>T | CA395982235 | SLC12A3 | c.806C>T (p.Thr269Ile) c.803C>T (p.Thr268Ile) | |
16 | g.56870691T>A | CA495603203 | SLC12A3 | c.807T>A (p.Thr269=) c.804T>A (p.Thr268=) | |
16 | g.56870691T>C | CA495603202 | SLC12A3 | c.807T>C (p.Thr269=) c.804T>C (p.Thr268=) | |
16 | g.56870691T>G | CA495603201 | SLC12A3 | c.807T>G (p.Thr269=) c.804T>G (p.Thr268=) | |
16 | g.56870692G>A | CA395982237 | SLC12A3 | c.808G>A (p.Val270Met) c.805G>A (p.Val269Met) | |
16 | g.56870692G>C | CA395982238 | SLC12A3 | c.808G>C (p.Val270Leu) c.805G>C (p.Val269Leu) | |
16 | g.56870692G>T | CA395982239 | SLC12A3 | c.808G>T (p.Val270Leu) c.805G>T (p.Val269Leu) |