Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885277del | CA2633373927 | SLC12A3 | c.1838del (p.Gly613AlafsTer?) c.1835del (p.Gly612AlafsTer?) | gnomAD v4 |
16 | g.56885276G>A | CA395991337 | SLC12A3 | c.1837G>A (p.Gly613Ser) c.1834G>A (p.Gly612Ser) | ClinVar 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=) | ClinVar gnomAD v4 |
16 | g.56885278C= | CA2224356644 | SLC12A3 | c.1839C= (p.Gly613=) c.1836C= (p.Gly612=) | |
16 | g.56885278C>G | CA495604614 | SLC12A3 | c.1839C>G (p.Gly613=) c.1836C>G (p.Gly612=) | |
16 | g.56885278C>T | CA495604615 | SLC12A3 | c.1839C>T (p.Gly613=) c.1836C>T (p.Gly612=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56885279T>A | CA395991348 | SLC12A3 | c.1840T>A (p.Ser614Thr) c.1837T>A (p.Ser613Thr) | gnomAD v4 |
16 | g.56885279T>C | CA281505300 | SLC12A3 | c.1840T>C (p.Ser614Pro) c.1837T>C (p.Ser613Pro) | dbSNP gnomAD v4 |
16 | g.56885279T>G | CA395991352 | SLC12A3 | c.1840T>G (p.Ser614Ala) c.1837T>G (p.Ser613Ala) | |
16 | g.56885279T= | CA2224356645 | SLC12A3 | c.1840T= (p.Ser614=) c.1837T= (p.Ser613=) | |
16 | g.56885280C>A | CA395991355 | SLC12A3 | c.1841C>A (p.Ser614Tyr) c.1838C>A (p.Ser613Tyr) | gnomAD v4 |
16 | g.56885280C= | CA2224356646 | SLC12A3 | c.1841C= (p.Ser614=) c.1838C= (p.Ser613=) | |
16 | g.56885280C>G | CA8069641 | SLC12A3 | c.1841C>G (p.Ser614Cys) c.1838C>G (p.Ser613Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56885280C>T | CA395991358 | SLC12A3 | c.1841C>T (p.Ser614Phe) c.1838C>T (p.Ser613Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56885281del | CA2633373938 | SLC12A3 | c.1842del (p.Ser615ArgfsTer?) c.1839del (p.Ser614ArgfsTer?) | gnomAD v4 |
16 | g.56885281C>A | CA495604616 | SLC12A3 | c.1842C>A (p.Ser614=) c.1839C>A (p.Ser613=) | gnomAD v4 |
16 | g.56885281C>G | CA495604618 | SLC12A3 | c.1842C>G (p.Ser614=) c.1839C>G (p.Ser613=) | |
16 | g.56885281C>T | CA495604617 | SLC12A3 | c.1842C>T (p.Ser614=) c.1839C>T (p.Ser613=) | |
16 | g.56885282T>A | CA395991361 | SLC12A3 | c.1843T>A (p.Ser615Thr) c.1840T>A (p.Ser614Thr) | |
16 | g.56885282T>C | CA395991363 | SLC12A3 | c.1843T>C (p.Ser615Pro) c.1840T>C (p.Ser614Pro) | |
16 | g.56885282T>G | CA395991365 | SLC12A3 | c.1843T>G (p.Ser615Ala) c.1840T>G (p.Ser614Ala) | |
16 | g.56885283C>A | CA395991368 | SLC12A3 | c.1844C>A (p.Ser615Ter) c.1841C>A (p.Ser614Ter) | ClinVar gnomAD v4 |
16 | g.56885283C= | CA2224356647 | SLC12A3 | c.1844C= (p.Ser615=) c.1841C= (p.Ser614=) | |
16 | g.56885283C>G | CA281505305 | SLC12A3 | c.1844C>G (p.Ser615Trp) c.1841C>G (p.Ser614Trp) | ClinVar dbSNP gnomAD v4 |
16 | g.56885283C>T | CA8069642 | SLC12A3 | c.1844C>T (p.Ser615Leu) c.1841C>T (p.Ser614Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56885284G>A | CA495604619 | SLC12A3 | c.1845G>A (p.Ser615=) c.1842G>A (p.Ser614=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56885284G>C | CA495604620 | SLC12A3 | c.1845G>C (p.Ser615=) c.1842G>C (p.Ser614=) | |
16 | g.56885284G= | CA2224356648 | SLC12A3 | c.1845G= (p.Ser615=) c.1842G= (p.Ser614=) | |
16 | g.56885284G>T | CA495604621 | SLC12A3 | c.1845G>T (p.Ser615=) c.1842G>T (p.Ser614=) | ClinVar dbSNP gnomAD v4 |
16 | g.56885285G>A | CA395991373 | SLC12A3 | c.1846G>A (p.Val616Ile) c.1843G>A (p.Val615Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56885285G>C | CA395991371 | SLC12A3 | c.1846G>C (p.Val616Leu) c.1843G>C (p.Val615Leu) | |
16 | g.56885285G= | CA2224356649 | SLC12A3 | c.1846G= (p.Val616=) c.1843G= (p.Val615=) | |
16 | g.56885285G>T | CA395991375 | SLC12A3 | c.1846G>T (p.Val616Leu) c.1843G>T (p.Val615Leu) | |
16 | g.56885286T>A | CA395991379 | SLC12A3 | c.1847T>A (p.Val616Glu) c.1844T>A (p.Val615Glu) | gnomAD v4 |
16 | g.56885286T>C | CA395991380 | SLC12A3 | c.1847T>C (p.Val616Ala) c.1844T>C (p.Val615Ala) | gnomAD v4 |
16 | g.56885286T>G | CA395991383 | SLC12A3 | c.1847T>G (p.Val616Gly) c.1844T>G (p.Val615Gly) | dbSNP |
16 | g.56885286T= | CA2224356650 | SLC12A3 | c.1847T= (p.Val616=) c.1844T= (p.Val615=) | |
16 | g.56885287A>C | CA495604622 | SLC12A3 | c.1848A>C (p.Val616=) c.1845A>C (p.Val615=) | ClinVar |
16 | g.56885287A>G | CA495604623 | SLC12A3 | c.1848A>G (p.Val616=) c.1845A>G (p.Val615=) | |
16 | g.56885287A>T | CA495604624 | SLC12A3 | c.1848A>T (p.Val616=) c.1845A>T (p.Val615=) | |
16 | g.56885288C>A | CA395991386 | SLC12A3 | c.1849C>A (p.Gln617Lys) c.1846C>A (p.Gln616Lys) | gnomAD v4 |
16 | g.56885288C= | CA2224356651 | SLC12A3 | c.1849C= (p.Gln617=) c.1846C= (p.Gln616=) | |
16 | g.56885288C>G | CA395991388 | SLC12A3 | c.1849C>G (p.Gln617Glu) c.1846C>G (p.Gln616Glu) | |
16 | g.56885288C>T | CA281505313 | SLC12A3 | c.1849C>T (p.Gln617Ter) c.1846C>T (p.Gln616Ter) | ClinVar dbSNP gnomAD v4 |