Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885264G>A | CA395991265 | SLC12A3 | c.1826-1G>A (n.1826-1G>A) c.1823-1G>A (n.1823-1G>A) | gnomAD v4 |
16 | g.56885264G>C | CA395991263 | SLC12A3 | c.1826-1G>C (n.1826-1G>C) c.1823-1G>C (n.1823-1G>C) | gnomAD v4 |
16 | g.56885264G>T | CA395991261 | SLC12A3 | c.1826-1G>T (n.1826-1G>T) c.1823-1G>T (n.1823-1G>T) | gnomAD v4 |
16 | g.56885265A>C | CA395991269 | SLC12A3 | c.1826A>C (p.Glu609Ala) c.1823A>C (p.Glu608Ala) | gnomAD v4 |
16 | g.56885265A>G | CA395991271 | SLC12A3 | c.1826A>G (p.Glu609Gly) c.1823A>G (p.Glu608Gly) | gnomAD v4 |
16 | g.56885265A>T | CA395991273 | SLC12A3 | c.1826A>T (p.Glu609Val) c.1823A>T (p.Glu608Val) | |
16 | g.56885266G>A | CA495604609 | SLC12A3 | c.1827G>A (p.Glu609=) c.1824G>A (p.Glu608=) | gnomAD v4 |
16 | g.56885266G>C | CA395991274 | SLC12A3 | c.1827G>C (p.Glu609Asp) c.1824G>C (p.Glu608Asp) | |
16 | g.56885266G>T | CA395991276 | SLC12A3 | c.1827G>T (p.Glu609Asp) c.1824G>T (p.Glu608Asp) | |
16 | g.56885267G>A | CA395991278 | SLC12A3 | c.1828G>A (p.Val610Ile) c.1825G>A (p.Val609Ile) | gnomAD v4 |
16 | g.56885267G>C | CA395991281 | SLC12A3 | c.1828G>C (p.Val610Leu) c.1825G>C (p.Val609Leu) | |
16 | g.56885267G>T | CA395991283 | SLC12A3 | c.1828G>T (p.Val610Leu) c.1825G>T (p.Val609Leu) | gnomAD v4 |
16 | g.56885268T>A | CA395991285 | SLC12A3 | c.1829T>A (p.Val610Glu) c.1826T>A (p.Val609Glu) | gnomAD v4 |
16 | g.56885268T>C | CA395991288 | SLC12A3 | c.1829T>C (p.Val610Ala) c.1826T>C (p.Val609Ala) | gnomAD v4 |
16 | g.56885268T>G | CA395991290 | SLC12A3 | c.1829T>G (p.Val610Gly) c.1826T>G (p.Val609Gly) | |
16 | g.56885269A>C | CA495604612 | SLC12A3 | c.1830A>C (p.Val610=) c.1827A>C (p.Val609=) | |
16 | g.56885269A>G | CA495604611 | SLC12A3 | c.1830A>G (p.Val610=) c.1827A>G (p.Val609=) | |
16 | g.56885269A>T | CA495604610 | SLC12A3 | c.1830A>T (p.Val610=) c.1827A>T (p.Val609=) | |
16 | g.56885271del | CA2633373911 | SLC12A3 | c.1832del (p.Asn611IlefsTer?) c.1829del (p.Asn610IlefsTer?) | gnomAD v4 |
16 | g.56885270A= | CA2224356639 | SLC12A3 | c.1831A= (p.Asn611=) c.1828A= (p.Asn610=) | |
16 | g.56885270A>C | CA395991293 | SLC12A3 | c.1831A>C (p.Asn611His) c.1828A>C (p.Asn610His) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56885270A>G | CA395991295 | SLC12A3 | c.1831A>G (p.Asn611Asp) c.1828A>G (p.Asn610Asp) | |
16 | g.56885270A>T | CA395991297 | SLC12A3 | c.1831A>T (p.Asn611Tyr) c.1828A>T (p.Asn610Tyr) | |
16 | g.56885271A>C | CA395991301 | SLC12A3 | c.1832A>C (p.Asn611Thr) c.1829A>C (p.Asn610Thr) | COSMIC |
16 | g.56885271A>G | CA395991303 | SLC12A3 | c.1832A>G (p.Asn611Ser) c.1829A>G (p.Asn610Ser) | gnomAD v4 |
16 | g.56885271A>T | CA395991299 | SLC12A3 | c.1832A>T (p.Asn611Ile) c.1829A>T (p.Asn610Ile) | |
16 | g.56885272T>A | CA395991306 | SLC12A3 | c.1833T>A (p.Asn611Lys) c.1830T>A (p.Asn610Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56885272T>C | CA8069640 | SLC12A3 | c.1833T>C (p.Asn611=) c.1830T>C (p.Asn610=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885272T>G | CA395991311 | SLC12A3 | c.1833T>G (p.Asn611Lys) c.1830T>G (p.Asn610Lys) | |
16 | g.56885272T= | CA2224356640 | SLC12A3 | c.1833T= (p.Asn611=) c.1830T= (p.Asn610=) | |
16 | g.56885273T>A | CA395991313 | SLC12A3 | c.1834T>A (p.Trp612Arg) c.1831T>A (p.Trp611Arg) | gnomAD v4 |
16 | g.56885273T>C | CA395991315 | SLC12A3 | c.1834T>C (p.Trp612Arg) c.1831T>C (p.Trp611Arg) | dbSNP gnomAD v4 |
16 | g.56885273T>G | CA395991317 | SLC12A3 | c.1834T>G (p.Trp612Gly) c.1831T>G (p.Trp611Gly) | |
16 | g.56885273T= | CA2224356641 | SLC12A3 | c.1834T= (p.Trp612=) c.1831T= (p.Trp611=) | |
16 | g.56885274G>A | CA395991321 | SLC12A3 | c.1835G>A (p.Trp612Ter) c.1832G>A (p.Trp611Ter) | |
16 | g.56885274G>C | CA395991322 | SLC12A3 | c.1835G>C (p.Trp612Ser) c.1832G>C (p.Trp611Ser) | |
16 | g.56885274G>T | CA395991324 | SLC12A3 | c.1835G>T (p.Trp612Leu) c.1832G>T (p.Trp611Leu) | gnomAD v4 |
16 | g.56885277del | CA2633373927 | SLC12A3 | c.1838del (p.Gly613AlafsTer?) c.1835del (p.Gly612AlafsTer?) | gnomAD v4 |
16 | g.56885275G>A | CA395991329 | SLC12A3 | c.1836G>A (p.Trp612Ter) c.1833G>A (p.Trp611Ter) | |
16 | g.56885275G>C | CA395991330 | SLC12A3 | c.1836G>C (p.Trp612Cys) c.1833G>C (p.Trp611Cys) | |
16 | g.56885275G= | CA2224356642 | SLC12A3 | c.1836G= (p.Trp612=) c.1833G= (p.Trp611=) | |
16 | g.56885275G>T | CA395991332 | SLC12A3 | c.1836G>T (p.Trp612Cys) c.1833G>T (p.Trp611Cys) | dbSNP gnomAD v4 |
16 | g.56885276G>A | CA395991337 | SLC12A3 | c.1837G>A (p.Gly613Ser) c.1834G>A (p.Gly612Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885276G>C | CA395991334 | SLC12A3 | c.1837G>C (p.Gly613Arg) c.1834G>C (p.Gly612Arg) | |
16 | g.56885276G= | CA2224356643 | SLC12A3 | c.1837G= (p.Gly613=) c.1834G= (p.Gly612=) | |
16 | g.56885276G>T | CA395991335 | SLC12A3 | c.1837G>T (p.Gly613Cys) c.1834G>T (p.Gly612Cys) | gnomAD v4 COSMIC |
16 | g.56885277G>A | CA395991340 | SLC12A3 | c.1838G>A (p.Gly613Asp) c.1835G>A (p.Gly612Asp) | gnomAD v4 |
16 | g.56885277G>C | CA395991343 | SLC12A3 | c.1838G>C (p.Gly613Ala) c.1835G>C (p.Gly612Ala) | |
16 | g.56885277G>T | CA395991345 | SLC12A3 | c.1838G>T (p.Gly613Val) c.1835G>T (p.Gly612Val) | |
16 | g.56885278C>A | CA495604613 | SLC12A3 | c.1839C>A (p.Gly613=) c.1836C>A (p.Gly612=) | gnomAD v4 |