Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56865314A= | CA2224346924 | SLC12A3 | c.79A= (p.Ser27=) | |
16 | g.56865314A>C | CA395976251 | SLC12A3 | c.79A>C (p.Ser27Arg) | |
16 | g.56865314A>G | CA395976250 | SLC12A3 | c.79A>G (p.Ser27Gly) | dbSNP gnomAD v4 |
16 | g.56865314A>T | CA395976249 | SLC12A3 | c.79A>T (p.Ser27Cys) | |
16 | g.56865315G>A | CA395976252 | SLC12A3 | c.80G>A (p.Ser27Asn) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865315G>C | CA395976253 | SLC12A3 | c.80G>C (p.Ser27Thr) | |
16 | g.56865315G= | CA2224346925 | SLC12A3 | c.80G= (p.Ser27=) | |
16 | g.56865315G>T | CA395976254 | SLC12A3 | c.80G>T (p.Ser27Ile) | |
16 | g.56865316C>A | CA395976255 | SLC12A3 | c.81C>A (p.Ser27Arg) | |
16 | g.56865316C= | CA2224346926 | SLC12A3 | c.81C= (p.Ser27=) | |
16 | g.56865316C>G | CA8068907 | SLC12A3 | c.81C>G (p.Ser27Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865316C>T | CA495787649 | SLC12A3 | c.81C>T (p.Ser27=) | |
16 | g.56865317A= | CA2224346927 | SLC12A3 | c.82A= (p.Ser28=) | |
16 | g.56865317A>C | CA395976256 | SLC12A3 | c.82A>C (p.Ser28Arg) | gnomAD v4 |
16 | g.56865317A>G | CA395976257 | SLC12A3 | c.82A>G (p.Ser28Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865317A>T | CA395976258 | SLC12A3 | c.82A>T (p.Ser28Cys) | |
16 | g.56865318G>A | CA395976259 | SLC12A3 | c.83G>A (p.Ser28Asn) | dbSNP gnomAD v4 |
16 | g.56865318G>C | CA395976260 | SLC12A3 | c.83G>C (p.Ser28Thr) | |
16 | g.56865318G= | CA2224346928 | SLC12A3 | c.83G= (p.Ser28=) | |
16 | g.56865318G>T | CA8068908 | SLC12A3 | c.83G>T (p.Ser28Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865318_56865319insGC | CA2695223507 | SLC12A3 | c.83_84insGC (p.Ser28ArgfsTer19) | |
16 | g.56865319T>A | CA395976261 | SLC12A3 | c.84T>A (p.Ser28Arg) | dbSNP |
16 | g.56865319T>C | CA495787651 | SLC12A3 | c.84T>C (p.Ser28=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865319T>G | CA395976262 | SLC12A3 | c.84T>G (p.Ser28Arg) | |
16 | g.56865319T= | CA2224346929 | SLC12A3 | c.84T= (p.Ser28=) | |
16 | g.56865320G>A | CA395976264 | SLC12A3 | c.85G>A (p.Asp29Asn) | |
16 | g.56865320G>C | CA395976266 | SLC12A3 | c.85G>C (p.Asp29His) | |
16 | g.56865320G>T | CA395976263 | SLC12A3 | c.85G>T (p.Asp29Tyr) | |
16 | g.56865321A>C | CA395976270 | SLC12A3 | c.86A>C (p.Asp29Ala) | |
16 | g.56865321A>G | CA395976269 | SLC12A3 | c.86A>G (p.Asp29Gly) | |
16 | g.56865321A>T | CA395976272 | SLC12A3 | c.86A>T (p.Asp29Val) | |
16 | g.56865321_56865322delinsAT | CA2224346930 | SLC12A3 | c.86_87delinsAT (p.Asp29=) | |
16 | g.56865322del | CA977635762 | SLC12A3 | c.87del (p.Asp29GlufsTer17) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865322T>A | CA395976274 | SLC12A3 | c.87T>A (p.Asp29Glu) | |
16 | g.56865322T>C | CA495787654 | SLC12A3 | c.87T>C (p.Asp29=) | gnomAD v4 |
16 | g.56865322T>G | CA395976275 | SLC12A3 | c.87T>G (p.Asp29Glu) | gnomAD v4 |
16 | g.56865323G>A | CA395976277 | SLC12A3 | c.88G>A (p.Glu30Lys) | |
16 | g.56865323G>C | CA395976279 | SLC12A3 | c.88G>C (p.Glu30Gln) | gnomAD v4 |
16 | g.56865323G= | CA2224346931 | SLC12A3 | c.88G= (p.Glu30=) | |
16 | g.56865323G>T | CA8068909 | SLC12A3 | c.88G>T (p.Glu30Ter) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.56865324A= | CA2224346932 | SLC12A3 | c.89A= (p.Glu30=) | |
16 | g.56865324A>C | CA8068910 | SLC12A3 | c.89A>C (p.Glu30Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56865324A>G | CA395976284 | SLC12A3 | c.89A>G (p.Glu30Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56865324A>T | CA395976286 | SLC12A3 | c.89A>T (p.Glu30Val) | |
16 | g.56865325G>A | CA495787660 | SLC12A3 | c.90G>A (p.Glu30=) | gnomAD v4 |
16 | g.56865325G>C | CA395976288 | SLC12A3 | c.90G>C (p.Glu30Asp) | dbSNP |
16 | g.56865325G= | CA2224346933 | SLC12A3 | c.90G= (p.Glu30=) | |
16 | g.56865325G>T | CA395976290 | SLC12A3 | c.90G>T (p.Glu30Asp) | |
16 | g.56865326C>A | CA395976292 | SLC12A3 | c.91C>A (p.Pro31Thr) |