OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56885251_56885258del | CA2633373865 | SLC12A3 | c.1826-14_1826-7del (n.1826-14_1826-7del) c.1823-14_1823-7del (n.1823-14_1823-7del) | gnomAD v4 |
| 16 | g.56885258C>A | CA2633373893 | SLC12A3 | c.1826-7C>A (n.1826-7C>A) c.1823-7C>A (n.1823-7C>A) | gnomAD v4 |
| 16 | g.56885258C>T | CA2633373894 | SLC12A3 | c.1826-7C>T (n.1826-7C>T) c.1823-7C>T (n.1823-7C>T) | gnomAD v4 |
| 16 | g.56885259T>C | CA2633373895 | SLC12A3 | c.1826-6T>C (n.1826-6T>C) c.1823-6T>C (n.1823-6T>C) | gnomAD v4 |
| 16 | g.56885260C>A | CA2633373896 | SLC12A3 | c.1826-5C>A (n.1826-5C>A) c.1823-5C>A (n.1823-5C>A) | gnomAD v4 |
| 16 | g.56885260C>T | CA2499223598 | SLC12A3 | c.1826-5C>T (n.1826-5C>T) c.1823-5C>T (n.1823-5C>T) | ClinVar dbSNP |
| 16 | g.56885261C>A | CA2633373898 | SLC12A3 | c.1826-4C>A (n.1826-4C>A) c.1823-4C>A (n.1823-4C>A) | gnomAD v4 |
| 16 | g.56885261C>T | CA2732475466 | SLC12A3 | c.1826-4C>T (n.1826-4C>T) c.1823-4C>T (n.1823-4C>T) | dbSNP |
| 16 | g.56885262C>A | CA2633373899 | SLC12A3 | c.1826-3C>A (n.1826-3C>A) c.1823-3C>A (n.1823-3C>A) | gnomAD v4 |
| 16 | g.56885262C>T | CA2732475469 | SLC12A3 | c.1826-3C>T (n.1826-3C>T) c.1823-3C>T (n.1823-3C>T) | dbSNP |
| 16 | g.56885263A>C | CA395991255 | SLC12A3 | c.1826-2A>C (n.1826-2A>C) c.1823-2A>C (n.1823-2A>C) | |
| 16 | g.56885263A>G | CA395991257 | SLC12A3 | c.1826-2A>G (n.1826-2A>G) c.1823-2A>G (n.1823-2A>G) | |
| 16 | g.56885263A>T | CA395991259 | SLC12A3 | c.1826-2A>T (n.1826-2A>T) c.1823-2A>T (n.1823-2A>T) | |
| 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) | 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) | dbSNP gnomAD v4 |
| 16 | g.56885289A= | CA2224356652 | SLC12A3 | c.1850A= (p.Gln617=) c.1847A= (p.Gln616=) | |
| 16 | g.56885289A>C | CA395991392 | SLC12A3 | c.1850A>C (p.Gln617Pro) c.1847A>C (p.Gln616Pro) | gnomAD v4 |
| 16 | g.56885289A>G | CA395991394 | SLC12A3 | c.1850A>G (p.Gln617Arg) c.1847A>G (p.Gln616Arg) | dbSNP gnomAD v4 |
| 16 | g.56885289A>T | CA395991396 | SLC12A3 | c.1850A>T (p.Gln617Leu) c.1847A>T (p.Gln616Leu) | |
| 16 | g.56885290G>A | CA495604625 | SLC12A3 | c.1851G>A (p.Gln617=) c.1848G>A (p.Gln616=) | dbSNP gnomAD v2 |
| 16 | g.56885290G>C | CA395991399 | SLC12A3 | c.1851G>C (p.Gln617His) c.1848G>C (p.Gln616His) | |
| 16 | g.56885290G= | CA2224356653 | SLC12A3 | c.1851G= (p.Gln617=) c.1848G= (p.Gln616=) | |
| 16 | g.56885290G>T | CA395991401 | SLC12A3 | c.1851G>T (p.Gln617His) c.1848G>T (p.Gln616His) | gnomAD v4 |
| 16 | g.56885291G>A | CA395991408 | SLC12A3 | c.1852G>A (p.Ala618Thr) c.1849G>A (p.Ala617Thr) | dbSNP gnomAD v4 |
| 16 | g.56885291G>C | CA395991406 | SLC12A3 | c.1852G>C (p.Ala618Pro) c.1849G>C (p.Ala617Pro) | |
| 16 | g.56885291G= | CA2224356654 | SLC12A3 | c.1852G= (p.Ala618=) c.1849G= (p.Ala617=) | |
| 16 | g.56885291G>T | CA395991404 | SLC12A3 | c.1852G>T (p.Ala618Ser) c.1849G>T (p.Ala617Ser) | dbSNP gnomAD v4 |
| 16 | g.56885292C>A | CA395991411 | SLC12A3 | c.1853C>A (p.Ala618Asp) c.1850C>A (p.Ala617Asp) | gnomAD v4 |
| 16 | g.56885292C>G | CA395991413 | SLC12A3 | c.1853C>G (p.Ala618Gly) c.1850C>G (p.Ala617Gly) | |
| 16 | g.56885292C>T | CA395991415 | SLC12A3 | c.1853C>T (p.Ala618Val) c.1850C>T (p.Ala617Val) | gnomAD v4 |
| 16 | g.56885293T>A | CA495604626 | SLC12A3 | c.1854T>A (p.Ala618=) c.1851T>A (p.Ala617=) | gnomAD v4 |
| 16 | g.56885293T>C | CA495604627 | SLC12A3 | c.1854T>C (p.Ala618=) c.1851T>C (p.Ala617=) | gnomAD v4 |
| 16 | g.56885293T>G | CA495604628 | SLC12A3 | c.1854T>G (p.Ala618=) c.1851T>G (p.Ala617=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885293T= | CA2224356655 | SLC12A3 | c.1854T= (p.Ala618=) c.1851T= (p.Ala617=) | |
| 16 | g.56885294G>A | CA8069643 | SLC12A3 | c.1855G>A (p.Gly619Ser) c.1852G>A (p.Gly618Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56885294G>C | CA395991419 | SLC12A3 | c.1855G>C (p.Gly619Arg) c.1852G>C (p.Gly618Arg) | |
| 16 | g.56885294G= | CA2224356656 | SLC12A3 | c.1855G= (p.Gly619=) c.1852G= (p.Gly618=) | |
| 16 | g.56885294G>T | CA395991422 | SLC12A3 | c.1855G>T (p.Gly619Cys) c.1852G>T (p.Gly618Cys) | gnomAD v4 |
| 16 | g.56885295G>A | CA395991425 | SLC12A3 | c.1856G>A (p.Gly619Asp) c.1853G>A (p.Gly618Asp) | gnomAD v4 |
| 16 | g.56885295G>C | CA395991427 | SLC12A3 | c.1856G>C (p.Gly619Ala) c.1853G>C (p.Gly618Ala) | |
| 16 | g.56885295G>T | CA395991429 | SLC12A3 | c.1856G>T (p.Gly619Val) c.1853G>T (p.Gly618Val) | gnomAD v4 |
| 16 | g.56885296C>A | CA495604629 | SLC12A3 | c.1857C>A (p.Gly619=) c.1854C>A (p.Gly618=) | gnomAD v4 |
| 16 | g.56885296C>G | CA495604630 | SLC12A3 | c.1857C>G (p.Gly619=) c.1854C>G (p.Gly618=) | |
| 16 | g.56885296C>T | CA495604631 | SLC12A3 | c.1857C>T (p.Gly619=) c.1854C>T (p.Gly618=) | gnomAD v4 |
| 16 | g.56885298_56885300del | CA2741488986 | SLC12A3 | c.1859_1861del (p.Ser620del) c.1856_1858del (p.Ser619del) | |
| 16 | g.56885297T>A | CA395991433 | SLC12A3 | c.1858T>A (p.Ser620Thr) c.1855T>A (p.Ser619Thr) | |
| 16 | g.56885297T>C | CA395991434 | SLC12A3 | c.1858T>C (p.Ser620Pro) c.1855T>C (p.Ser619Pro) | |
| 16 | g.56885297T>G | CA395991436 | SLC12A3 | c.1858T>G (p.Ser620Ala) c.1855T>G (p.Ser619Ala) | |
| 16 | g.56885298C>A | CA395991445 | SLC12A3 | c.1859C>A (p.Ser620Tyr) c.1856C>A (p.Ser619Tyr) | gnomAD v4 |
| 16 | g.56885298C= | CA2224356657 | SLC12A3 | c.1859C= (p.Ser620=) c.1856C= (p.Ser619=) | |
| 16 | g.56885298C>G | CA395991442 | SLC12A3 | c.1859C>G (p.Ser620Cys) c.1856C>G (p.Ser619Cys) | |
| 16 | g.56885298C>T | CA395991440 | SLC12A3 | c.1859C>T (p.Ser620Phe) c.1856C>T (p.Ser619Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885299C>A | CA495604632 | SLC12A3 | c.1860C>A (p.Ser620=) c.1857C>A (p.Ser619=) | gnomAD v4 |
| 16 | g.56885299C>G | CA495604633 | SLC12A3 | c.1860C>G (p.Ser620=) c.1857C>G (p.Ser619=) | |
| 16 | g.56885299C>T | CA495604634 | SLC12A3 | c.1860C>T (p.Ser620=) c.1857C>T (p.Ser619=) | gnomAD v4 |
| 16 | g.56885300T>A | CA395991448 | SLC12A3 | c.1861T>A (p.Tyr621Asn) c.1858T>A (p.Tyr620Asn) | |
| 16 | g.56885300T>C | CA395991450 | SLC12A3 | c.1861T>C (p.Tyr621His) c.1858T>C (p.Tyr620His) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885300T>G | CA395991453 | SLC12A3 | c.1861T>G (p.Tyr621Asp) c.1858T>G (p.Tyr620Asp) | |
| 16 | g.56885300T= | CA2224356658 | SLC12A3 | c.1861T= (p.Tyr621=) c.1858T= (p.Tyr620=) | |
| 16 | g.56885301A>C | CA395991455 | SLC12A3 | c.1862A>C (p.Tyr621Ser) c.1859A>C (p.Tyr620Ser) | |
| 16 | g.56885301A>G | CA395991457 | SLC12A3 | c.1862A>G (p.Tyr621Cys) c.1859A>G (p.Tyr620Cys) | |
| 16 | g.56885301A>T | CA395991460 | SLC12A3 | c.1862A>T (p.Tyr621Phe) c.1859A>T (p.Tyr620Phe) | gnomAD v4 |
| 16 | g.56885302C>A | CA395991462 | SLC12A3 | c.1863C>A (p.Tyr621Ter) c.1860C>A (p.Tyr620Ter) | gnomAD v4 |
| 16 | g.56885302C>G | CA395991464 | SLC12A3 | c.1863C>G (p.Tyr621Ter) c.1860C>G (p.Tyr620Ter) | |
| 16 | g.56885302C>T | CA495604636 | SLC12A3 | c.1863C>T (p.Tyr621=) c.1860C>T (p.Tyr620=) | gnomAD v4 |
| 16 | g.56885303A>C | CA395991468 | SLC12A3 | c.1864A>C (p.Asn622His) c.1861A>C (p.Asn621His) | |
| 16 | g.56885303A>G | CA395991469 | SLC12A3 | c.1864A>G (p.Asn622Asp) c.1861A>G (p.Asn621Asp) | |
| 16 | g.56885303A>T | CA395991471 | SLC12A3 | c.1864A>T (p.Asn622Tyr) c.1861A>T (p.Asn621Tyr) | |
| 16 | g.56885304A= | CA2224356659 | SLC12A3 | c.1865A= (p.Asn622=) c.1862A= (p.Asn621=) | |
| 16 | g.56885304A>C | CA395991475 | SLC12A3 | c.1865A>C (p.Asn622Thr) c.1862A>C (p.Asn621Thr) | |
| 16 | g.56885304A>G | CA8069644 | SLC12A3 | c.1865A>G (p.Asn622Ser) c.1862A>G (p.Asn621Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885304A>T | CA395991478 | SLC12A3 | c.1865A>T (p.Asn622Ile) c.1862A>T (p.Asn621Ile) | |
| 16 | g.56885305C>A | CA395991481 | SLC12A3 | c.1866C>A (p.Asn622Lys) c.1863C>A (p.Asn621Lys) | dbSNP gnomAD v4 |
| 16 | g.56885305C= | CA2224356660 | SLC12A3 | c.1866C= (p.Asn622=) c.1863C= (p.Asn621=) | |
| 16 | g.56885305C>G | CA395991483 | SLC12A3 | c.1866C>G (p.Asn622Lys) c.1863C>G (p.Asn621Lys) | gnomAD v4 |
| 16 | g.56885305C>T | CA495604637 | SLC12A3 | c.1866C>T (p.Asn622=) c.1863C>T (p.Asn621=) | gnomAD v4 |
| 16 | g.56885306C>A | CA395991485 | SLC12A3 | c.1867C>A (p.Leu623Met) c.1864C>A (p.Leu622Met) | gnomAD v4 |
| 16 | g.56885306C>G | CA395991487 | SLC12A3 | c.1867C>G (p.Leu623Val) c.1864C>G (p.Leu622Val) | |
| 16 | g.56885306C>T | CA495604638 | SLC12A3 | c.1867C>T (p.Leu623=) c.1864C>T (p.Leu622=) | gnomAD v4 |
| 16 | g.56885307T>A | CA395991489 | SLC12A3 | c.1868T>A (p.Leu623Gln) c.1865T>A (p.Leu622Gln) | gnomAD v4 |
| 16 | g.56885307T>C | CA119780 | SLC12A3 | c.1868T>C (p.Leu623Pro) c.1865T>C (p.Leu622Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885307T>G | CA395991493 | SLC12A3 | c.1868T>G (p.Leu623Arg) c.1865T>G (p.Leu622Arg) | |
| 16 | g.56885307T= | CA2224356661 | SLC12A3 | c.1868T= (p.Leu623=) c.1865T= (p.Leu622=) | |
| 16 | g.56885308G>A | CA281505325 | SLC12A3 | c.1869G>A (p.Leu623=) c.1866G>A (p.Leu622=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885308G>C | CA495604640 | SLC12A3 | c.1869G>C (p.Leu623=) c.1866G>C (p.Leu622=) | |
| 16 | g.56885308G= | CA2224356662 | SLC12A3 | c.1869G= (p.Leu623=) c.1866G= (p.Leu622=) | |
| 16 | g.56885308G>T | CA495604641 | SLC12A3 | c.1869G>T (p.Leu623=) c.1866G>T (p.Leu622=) | gnomAD v4 |
| 16 | g.56885309G>A | CA395991501 | SLC12A3 | c.1870G>A (p.Ala624Thr) c.1867G>A (p.Ala623Thr) | gnomAD v4 |
| 16 | g.56885309G>C | CA395991503 | SLC12A3 | c.1870G>C (p.Ala624Pro) c.1867G>C (p.Ala623Pro) | |
| 16 | g.56885309G= | CA2224356663 | SLC12A3 | c.1870G= (p.Ala624=) c.1867G= (p.Ala623=) | |
| 16 | g.56885309G>T | CA395991505 | SLC12A3 | c.1870G>T (p.Ala624Ser) c.1867G>T (p.Ala623Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885310C>A | CA395991507 | SLC12A3 | c.1871C>A (p.Ala624Asp) c.1868C>A (p.Ala623Asp) | gnomAD v4 |
| 16 | g.56885310C= | CA2224356664 | SLC12A3 | c.1871C= (p.Ala624=) c.1868C= (p.Ala623=) | |
| 16 | g.56885310C>G | CA395991508 | SLC12A3 | c.1871C>G (p.Ala624Gly) c.1868C>G (p.Ala623Gly) | |
| 16 | g.56885310C>T | CA395991509 | SLC12A3 | c.1871C>T (p.Ala624Val) c.1868C>T (p.Ala623Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885311C>A | CA495604644 | SLC12A3 | c.1872C>A (p.Ala624=) c.1869C>A (p.Ala623=) | gnomAD v4 |
| 16 | g.56885311C>G | CA495604643 | SLC12A3 | c.1872C>G (p.Ala624=) c.1869C>G (p.Ala623=) | |
| 16 | g.56885311C>T | CA495604642 | SLC12A3 | c.1872C>T (p.Ala624=) c.1869C>T (p.Ala623=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885312C>A | CA395991511 | SLC12A3 | c.1873C>A (p.Leu625Ile) c.1870C>A (p.Leu624Ile) | gnomAD v4 |
| 16 | g.56885312C>G | CA395991512 | SLC12A3 | c.1873C>G (p.Leu625Val) c.1870C>G (p.Leu624Val) | |
| 16 | g.56885312C>T | CA395991510 | SLC12A3 | c.1873C>T (p.Leu625Phe) c.1870C>T (p.Leu624Phe) | gnomAD v4 |
| 16 | g.56885313T>A | CA395991515 | SLC12A3 | c.1874T>A (p.Leu625His) c.1871T>A (p.Leu624His) | |
| 16 | g.56885313T>C | CA395991513 | SLC12A3 | c.1874T>C (p.Leu625Pro) c.1871T>C (p.Leu624Pro) | gnomAD v4 |
| 16 | g.56885313T>G | CA395991514 | SLC12A3 | c.1874T>G (p.Leu625Arg) c.1871T>G (p.Leu624Arg) | |
| 16 | g.56885314C>A | CA495604645 | SLC12A3 | c.1875C>A (p.Leu625=) c.1872C>A (p.Leu624=) | gnomAD v4 |
| 16 | g.56885314C>G | CA495604646 | SLC12A3 | c.1875C>G (p.Leu625=) c.1872C>G (p.Leu624=) | |
| 16 | g.56885314C>T | CA495604647 | SLC12A3 | c.1875C>T (p.Leu625=) c.1872C>T (p.Leu624=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885315A= | CA2224356665 | SLC12A3 | c.1876A= (p.Ser626=) c.1873A= (p.Ser625=) | |
| 16 | g.56885315A>C | CA395991516 | SLC12A3 | c.1876A>C (p.Ser626Arg) c.1873A>C (p.Ser625Arg) | |
| 16 | g.56885315A>G | CA395991517 | SLC12A3 | c.1876A>G (p.Ser626Gly) c.1873A>G (p.Ser625Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885315A>T | CA395991518 | SLC12A3 | c.1876A>T (p.Ser626Cys) c.1873A>T (p.Ser625Cys) | gnomAD v4 |
| 16 | g.56885315dup | CA2633373966 | SLC12A3 | c.1876dup (p.Ser626LysfsTer8) c.1873dup (p.Ser625LysfsTer8) | gnomAD v4 |
| 16 | g.56885316G>A | CA395991519 | SLC12A3 | c.1877G>A (p.Ser626Asn) c.1874G>A (p.Ser625Asn) | |
| 16 | g.56885316G>C | CA395991520 | SLC12A3 | c.1877G>C (p.Ser626Thr) c.1874G>C (p.Ser625Thr) | |
| 16 | g.56885316G>T | CA395991521 | SLC12A3 | c.1877G>T (p.Ser626Ile) c.1874G>T (p.Ser625Ile) | |
| 16 | g.56885317C>A | CA395991522 | SLC12A3 | c.1878C>A (p.Ser626Arg) c.1875C>A (p.Ser625Arg) | gnomAD v4 |
| 16 | g.56885317C>G | CA395991523 | SLC12A3 | c.1878C>G (p.Ser626Arg) c.1875C>G (p.Ser625Arg) | |
| 16 | g.56885317C>T | CA495604648 | SLC12A3 | c.1878C>T (p.Ser626=) c.1875C>T (p.Ser625=) | gnomAD v4 |
| 16 | g.56885318T>A | CA8069645 | SLC12A3 | c.1879T>A (p.Tyr627Asn) c.1876T>A (p.Tyr626Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56885318T>C | CA395991524 | SLC12A3 | c.1879T>C (p.Tyr627His) c.1876T>C (p.Tyr626His) | dbSNP |
| 16 | g.56885318T>G | CA395991525 | SLC12A3 | c.1879T>G (p.Tyr627Asp) c.1876T>G (p.Tyr626Asp) | |
| 16 | g.56885318T= | CA2224356666 | SLC12A3 | c.1879T= (p.Tyr627=) c.1876T= (p.Tyr626=) | |
| 16 | g.56885319A>C | CA395991528 | SLC12A3 | c.1880A>C (p.Tyr627Ser) c.1877A>C (p.Tyr626Ser) | |
| 16 | g.56885319A>G | CA395991526 | SLC12A3 | c.1880A>G (p.Tyr627Cys) c.1877A>G (p.Tyr626Cys) | gnomAD v4 |
| 16 | g.56885319A>T | CA395991527 | SLC12A3 | c.1880A>T (p.Tyr627Phe) c.1877A>T (p.Tyr626Phe) | gnomAD v4 |
| 16 | g.56885320C>A | CA395991529 | SLC12A3 | c.1881C>A (p.Tyr627Ter) c.1878C>A (p.Tyr626Ter) | |
| 16 | g.56885320C= | CA2224356667 | SLC12A3 | c.1881C= (p.Tyr627=) c.1878C= (p.Tyr626=) | |
| 16 | g.56885320C>G | CA395991530 | SLC12A3 | c.1881C>G (p.Tyr627Ter) c.1878C>G (p.Tyr626Ter) | |
| 16 | g.56885320C>T | CA495604649 | SLC12A3 | c.1881C>T (p.Tyr627=) c.1878C>T (p.Tyr626=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885321T>A | CA395991531 | SLC12A3 | c.1882T>A (p.Ser628Thr) c.1879T>A (p.Ser627Thr) | gnomAD v4 |
| 16 | g.56885321T>C | CA395991532 | SLC12A3 | c.1882T>C (p.Ser628Pro) c.1879T>C (p.Ser627Pro) | gnomAD v4 |
| 16 | g.56885321T>G | CA395991534 | SLC12A3 | c.1882T>G (p.Ser628Ala) c.1879T>G (p.Ser627Ala) | |
| 16 | g.56885322C>A | CA395991537 | SLC12A3 | c.1883C>A (p.Ser628Ter) c.1880C>A (p.Ser627Ter) | gnomAD v4 |
| 16 | g.56885322C= | CA2224356668 | SLC12A3 | c.1883C= (p.Ser628=) c.1880C= (p.Ser627=) | |
| 16 | g.56885322C>G | CA395991540 | SLC12A3 | c.1883C>G (p.Ser628Trp) c.1880C>G (p.Ser627Trp) | |
| 16 | g.56885322C>T | CA8069646 | SLC12A3 | c.1883C>T (p.Ser628Leu) c.1880C>T (p.Ser627Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885323G>A | CA8069647 | SLC12A3 | c.1884G>A (p.Ser628=) c.1881G>A (p.Ser627=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885323G>C | CA281505351 | SLC12A3 | c.1884G>C (p.Ser628=) c.1881G>C (p.Ser627=) | dbSNP gnomAD v4 |
| 16 | g.56885323G= | CA2224356669 | SLC12A3 | c.1884G= (p.Ser628=) c.1881G= (p.Ser627=) | |
| 16 | g.56885323G>T | CA495604650 | SLC12A3 | c.1884G>T (p.Ser628=) c.1881G>T (p.Ser627=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885324G>A | CA395991548 | SLC12A3 | c.1885G>A (p.Val629Met) c.1882G>A (p.Val628Met) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885324G>C | CA395991550 | SLC12A3 | c.1885G>C (p.Val629Leu) c.1882G>C (p.Val628Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885324G= | CA2224356670 | SLC12A3 | c.1885G= (p.Val629=) c.1882G= (p.Val628=) | |
| 16 | g.56885324G>T | CA395991552 | SLC12A3 | c.1885G>T (p.Val629Leu) c.1882G>T (p.Val628Leu) | gnomAD v4 |
| 16 | g.56885325T>A | CA395991556 | SLC12A3 | c.1886T>A (p.Val629Glu) c.1883T>A (p.Val628Glu) | |
| 16 | g.56885325T>C | CA395991558 | SLC12A3 | c.1886T>C (p.Val629Ala) c.1883T>C (p.Val628Ala) | gnomAD v4 |
| 16 | g.56885325T>G | CA395991554 | SLC12A3 | c.1886T>G (p.Val629Gly) c.1883T>G (p.Val628Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885325T= | CA2224356671 | SLC12A3 | c.1886T= (p.Val629=) c.1883T= (p.Val628=) | |
| 16 | g.56885326G>A | CA495604651 | SLC12A3 | c.1887G>A (p.Val629=) c.1884G>A (p.Val628=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885326G>C | CA495604652 | SLC12A3 | c.1887G>C (p.Val629=) c.1884G>C (p.Val628=) | |
| 16 | g.56885326G= | CA2224356672 | SLC12A3 | c.1887G= (p.Val629=) c.1884G= (p.Val628=) | |
| 16 | g.56885326G>T | CA495604653 | SLC12A3 | c.1887G>T (p.Val629=) c.1884G>T (p.Val628=) | gnomAD v4 |
| 16 | g.56885328del | CA2633373967 | SLC12A3 | c.1889del (p.Gly630AlafsTer?) c.1886del (p.Gly629AlafsTer?) | gnomAD v4 |
| 16 | g.56885327G>A | CA395991561 | SLC12A3 | c.1888G>A (p.Gly630Ser) c.1885G>A (p.Gly629Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885327G>C | CA395991563 | SLC12A3 | c.1888G>C (p.Gly630Arg) c.1885G>C (p.Gly629Arg) | |
| 16 | g.56885327G= | CA2224356673 | SLC12A3 | c.1888G= (p.Gly630=) c.1885G= (p.Gly629=) | |
| 16 | g.56885327G>T | CA395991565 | SLC12A3 | c.1888G>T (p.Gly630Cys) c.1885G>T (p.Gly629Cys) | |
| 16 | g.56885328G>A | CA395991567 | SLC12A3 | c.1889G>A (p.Gly630Asp) c.1886G>A (p.Gly629Asp) | gnomAD v4 |
| 16 | g.56885328G>C | CA395991569 | SLC12A3 | c.1889G>C (p.Gly630Ala) c.1886G>C (p.Gly629Ala) | |
| 16 | g.56885328G= | CA2224356674 | SLC12A3 | c.1889G= (p.Gly630=) c.1886G= (p.Gly629=) | |
| 16 | g.56885328G>T | CA119778 | SLC12A3 | c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885329C>A | CA495604654 | SLC12A3 | c.1890C>A (p.Gly630=) c.1887C>A (p.Gly629=) | gnomAD v4 |
| 16 | g.56885329C>G | CA495604655 | SLC12A3 | c.1890C>G (p.Gly630=) c.1887C>G (p.Gly629=) | ClinVar |
| 16 | g.56885329C>T | CA495604656 | SLC12A3 | c.1890C>T (p.Gly630=) c.1887C>T (p.Gly629=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885330C>A | CA395991577 | SLC12A3 | c.1891C>A (p.Leu631Ile) c.1888C>A (p.Leu630Ile) | gnomAD v4 |
| 16 | g.56885330C= | CA2224356675 | SLC12A3 | c.1891C= (p.Leu631=) c.1888C= (p.Leu630=) | |
| 16 | g.56885330C>G | CA395991572 | SLC12A3 | c.1891C>G (p.Leu631Val) c.1888C>G (p.Leu630Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885330C>T | CA395991574 | SLC12A3 | c.1891C>T (p.Leu631Phe) c.1888C>T (p.Leu630Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885331_56885332del | CA2515147690 | SLC12A3 | c.1892_1893del (p.Leu631GlnfsTer2) c.1889_1890del (p.Leu630GlnfsTer2) | |
| 16 | g.56885331T>A | CA395991579 | SLC12A3 | c.1892T>A (p.Leu631His) c.1889T>A (p.Leu630His) | gnomAD v4 |
| 16 | g.56885331T>C | CA395991581 | SLC12A3 | c.1892T>C (p.Leu631Pro) c.1889T>C (p.Leu630Pro) | gnomAD v4 |
| 16 | g.56885331T>G | CA395991583 | SLC12A3 | c.1892T>G (p.Leu631Arg) c.1889T>G (p.Leu630Arg) | gnomAD v4 |
| 16 | g.56885332C>A | CA495604657 | SLC12A3 | c.1893C>A (p.Leu631=) c.1890C>A (p.Leu630=) | gnomAD v4 |
| 16 | g.56885332C>G | CA495604658 | SLC12A3 | c.1893C>G (p.Leu631=) c.1890C>G (p.Leu630=) | |
| 16 | g.56885332C>T | CA495604659 | SLC12A3 | c.1893C>T (p.Leu631=) c.1890C>T (p.Leu630=) | gnomAD v4 |
| 16 | g.56885333A= | CA2224356676 | SLC12A3 | c.1894A= (p.Asn632=) c.1891A= (p.Asn631=) | |
| 16 | g.56885333A>C | CA395991586 | SLC12A3 | c.1894A>C (p.Asn632His) c.1891A>C (p.Asn631His) | |
| 16 | g.56885333A>G | CA8069648 | SLC12A3 | c.1894A>G (p.Asn632Asp) c.1891A>G (p.Asn631Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56885333A>T | CA395991588 | SLC12A3 | c.1894A>T (p.Asn632Tyr) c.1891A>T (p.Asn631Tyr) | |
| 16 | g.56885334A= | CA2224356677 | SLC12A3 | c.1895A= (p.Asn632=) c.1892A= (p.Asn631=) | |
| 16 | g.56885334A>C | CA395991592 | SLC12A3 | c.1895A>C (p.Asn632Thr) c.1892A>C (p.Asn631Thr) | |
| 16 | g.56885334A>G | CA281505357 | SLC12A3 | c.1895A>G (p.Asn632Ser) c.1892A>G (p.Asn631Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885334A>T | CA395991594 | SLC12A3 | c.1895A>T (p.Asn632Ile) c.1892A>T (p.Asn631Ile) | |
| 16 | g.56885335T>A | CA395991597 | SLC12A3 | c.1896T>A (p.Asn632Lys) c.1893T>A (p.Asn631Lys) | gnomAD v4 |
| 16 | g.56885335T>C | CA495604660 | SLC12A3 | c.1896T>C (p.Asn632=) c.1893T>C (p.Asn631=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885335T>G | CA395991600 | SLC12A3 | c.1896T>G (p.Asn632Lys) c.1893T>G (p.Asn631Lys) | |
| 16 | g.56885335T= | CA2224356678 | SLC12A3 | c.1896T= (p.Asn632=) c.1893T= (p.Asn631=) | |
| 16 | g.56885336G>A | CA395991602 | SLC12A3 | c.1897G>A (p.Glu633Lys) c.1894G>A (p.Glu632Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885336G>C | CA395991604 | SLC12A3 | c.1897G>C (p.Glu633Gln) c.1894G>C (p.Glu632Gln) | |
| 16 | g.56885336G= | CA2224356679 | SLC12A3 | c.1897G= (p.Glu633=) c.1894G= (p.Glu632=) | |
| 16 | g.56885336G>T | CA395991606 | SLC12A3 | c.1897G>T (p.Glu633Ter) c.1894G>T (p.Glu632Ter) | gnomAD v4 |
| 16 | g.56885336dup | CA2695223453 | SLC12A3 | c.1897dup (p.Glu633GlyfsTer?) c.1894dup (p.Glu632GlyfsTer?) | |
| 16 | g.56885337A= | CA2224356680 | SLC12A3 | c.1898A= (p.Glu633=) c.1895A= (p.Glu632=) | |
| 16 | g.56885337A>C | CA395991610 | SLC12A3 | c.1898A>C (p.Glu633Ala) c.1895A>C (p.Glu632Ala) | |
| 16 | g.56885337A>G | CA395991612 | SLC12A3 | c.1898A>G (p.Glu633Gly) c.1895A>G (p.Glu632Gly) | |
| 16 | g.56885337A>T | CA395991614 | SLC12A3 | c.1898A>T (p.Glu633Val) c.1895A>T (p.Glu632Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885338G>A | CA495604661 | SLC12A3 | c.1899G>A (p.Glu633=) c.1896G>A (p.Glu632=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885338G>C | CA395991616 | SLC12A3 | c.1899G>C (p.Glu633Asp) c.1896G>C (p.Glu632Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885338G= | CA2224356681 | SLC12A3 | c.1899G= (p.Glu633=) c.1896G= (p.Glu632=) | |
| 16 | g.56885338G>T | CA395991617 | SLC12A3 | c.1899G>T (p.Glu633Asp) c.1896G>T (p.Glu632Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885339G>A | CA395991621 | SLC12A3 | c.1900G>A (p.Val634Met) c.1897G>A (p.Val633Met) | gnomAD v4 |
| 16 | g.56885339G>C | CA395991623 | SLC12A3 | c.1900G>C (p.Val634Leu) c.1897G>C (p.Val633Leu) | |
| 16 | g.56885339G>T | CA395991625 | SLC12A3 | c.1900G>T (p.Val634Leu) c.1897G>T (p.Val633Leu) | |
| 16 | g.56885340T>A | CA395991630 | SLC12A3 | c.1901T>A (p.Val634Glu) c.1898T>A (p.Val633Glu) | |
| 16 | g.56885340T>C | CA395991632 | SLC12A3 | c.1901T>C (p.Val634Ala) c.1898T>C (p.Val633Ala) | |
| 16 | g.56885340T>G | CA395991628 | SLC12A3 | c.1901T>G (p.Val634Gly) c.1898T>G (p.Val633Gly) | |
| 16 | g.56885341G>A | CA495604664 | SLC12A3 | c.1902G>A (p.Val634=) c.1899G>A (p.Val633=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885341G>C | CA495604663 | SLC12A3 | c.1902G>C (p.Val634=) c.1899G>C (p.Val633=) | gnomAD v4 |
| 16 | g.56885341G= | CA2224356682 | SLC12A3 | c.1902G= (p.Val634=) c.1899G= (p.Val633=) | |
| 16 | g.56885341G>T | CA495604662 | SLC12A3 | c.1902G>T (p.Val634=) c.1899G>T (p.Val633=) | gnomAD v4 |
| 16 | g.56885342G>A | CA395991637 | SLC12A3 | c.1903G>A (p.Glu635Lys) c.1900G>A (p.Glu634Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885342G>C | CA395991635 | SLC12A3 | c.1903G>C (p.Glu635Gln) c.1900G>C (p.Glu634Gln) | |
| 16 | g.56885342G= | CA2224356683 | SLC12A3 | c.1903G= (p.Glu635=) c.1900G= (p.Glu634=) | |
| 16 | g.56885342G>T | CA395991639 | SLC12A3 | c.1903G>T (p.Glu635Ter) c.1900G>T (p.Glu634Ter) | gnomAD v4 |
| 16 | g.56885343A>C | CA395991642 | SLC12A3 | c.1904A>C (p.Glu635Ala) c.1901A>C (p.Glu634Ala) | |
| 16 | g.56885343A>G | CA395991646 | SLC12A3 | c.1904A>G (p.Glu635Gly) c.1901A>G (p.Glu634Gly) | gnomAD v4 |
| 16 | g.56885343A>T | CA395991643 | SLC12A3 | c.1904A>T (p.Glu635Val) c.1901A>T (p.Glu634Val) | |
| 16 | g.56885344del | CA2807160458 | SLC12A3 | c.1905del (p.Asp636ThrfsTer?) c.1902del (p.Asp635ThrfsTer?) | |
| 16 | g.56885344A>C | CA395991648 | SLC12A3 | c.1905A>C (p.Glu635Asp) c.1902A>C (p.Glu634Asp) | |
| 16 | g.56885344A>G | CA495604665 | SLC12A3 | c.1905A>G (p.Glu635=) c.1902A>G (p.Glu634=) | gnomAD v4 |
| 16 | g.56885344A>T | CA395991650 | SLC12A3 | c.1905A>T (p.Glu635Asp) c.1902A>T (p.Glu634Asp) | gnomAD v4 COSMIC |
| 16 | g.56885345G>A | CA395991654 | SLC12A3 | c.1906G>A (p.Asp636Asn) c.1903G>A (p.Asp635Asn) | gnomAD v4 COSMIC |
| 16 | g.56885345G>C | CA395991657 | SLC12A3 | c.1906G>C (p.Asp636His) c.1903G>C (p.Asp635His) | |
| 16 | g.56885345G>T | CA395991656 | SLC12A3 | c.1906G>T (p.Asp636Tyr) c.1903G>T (p.Asp635Tyr) | gnomAD v4 |
| 16 | g.56885346A>C | CA395991660 | SLC12A3 | c.1907A>C (p.Asp636Ala) c.1904A>C (p.Asp635Ala) | |
| 16 | g.56885346A>G | CA395991662 | SLC12A3 | c.1907A>G (p.Asp636Gly) c.1904A>G (p.Asp635Gly) | |
| 16 | g.56885346A>T | CA395991664 | SLC12A3 | c.1907A>T (p.Asp636Val) c.1904A>T (p.Asp635Val) | |
| 16 | g.56885347C>A | CA395991667 | SLC12A3 | c.1908C>A (p.Asp636Glu) c.1905C>A (p.Asp635Glu) | gnomAD v4 |
| 16 | g.56885347C= | CA2224356684 | SLC12A3 | c.1908C= (p.Asp636=) c.1905C= (p.Asp635=) | |
| 16 | g.56885347C>G | CA395991668 | SLC12A3 | c.1908C>G (p.Asp636Glu) c.1905C>G (p.Asp635Glu) | gnomAD v4 |
| 16 | g.56885347C>T | CA495604666 | SLC12A3 | c.1908C>T (p.Asp636=) c.1905C>T (p.Asp635=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885348del | CA2633373970 | SLC12A3 | c.1909del (p.His637ThrfsTer?) c.1906del (p.His636ThrfsTer?) | gnomAD v4 |
| 16 | g.56885348C>A | CA395991670 | SLC12A3 | c.1909C>A (p.His637Asn) c.1906C>A (p.His636Asn) | gnomAD v4 |
| 16 | g.56885348C>G | CA395991672 | SLC12A3 | c.1909C>G (p.His637Asp) c.1906C>G (p.His636Asp) | |
| 16 | g.56885348C>T | CA395991673 | SLC12A3 | c.1909C>T (p.His637Tyr) c.1906C>T (p.His636Tyr) | gnomAD v4 |
| 16 | g.56885349A>C | CA395991675 | SLC12A3 | c.1910A>C (p.His637Pro) c.1907A>C (p.His636Pro) | |
| 16 | g.56885349A>G | CA395991677 | SLC12A3 | c.1910A>G (p.His637Arg) c.1907A>G (p.His636Arg) | |
| 16 | g.56885349A>T | CA395991679 | SLC12A3 | c.1910A>T (p.His637Leu) c.1907A>T (p.His636Leu) | gnomAD v4 |
| 16 | g.56885350C>A | CA395991683 | SLC12A3 | c.1911C>A (p.His637Gln) c.1908C>A (p.His636Gln) | gnomAD v4 |
| 16 | g.56885350C= | CA2224356685 | SLC12A3 | c.1911C= (p.His637=) c.1908C= (p.His636=) | |
| 16 | g.56885350C>G | CA395991682 | SLC12A3 | c.1911C>G (p.His637Gln) c.1908C>G (p.His636Gln) | |
| 16 | g.56885350C>T | CA495604667 | SLC12A3 | c.1911C>T (p.His637=) c.1908C>T (p.His636=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56885351A= | CA2224356686 | SLC12A3 | c.1912A= (p.Ile638=) c.1909A= (p.Ile637=) | |
| 16 | g.56885351A>C | CA395991687 | SLC12A3 | c.1912A>C (p.Ile638Leu) c.1909A>C (p.Ile637Leu) | |
| 16 | g.56885351A>G | CA395991689 | SLC12A3 | c.1912A>G (p.Ile638Val) c.1909A>G (p.Ile637Val) | gnomAD v4 |
| 16 | g.56885351A>T | CA395991691 | SLC12A3 | c.1912A>T (p.Ile638Phe) c.1909A>T (p.Ile637Phe) | dbSNP gnomAD v4 |
| 16 | g.56885352T>A | CA395991695 | SLC12A3 | c.1913T>A (p.Ile638Asn) c.1910T>A (p.Ile637Asn) | |
| 16 | g.56885352T>C | CA395991697 | SLC12A3 | c.1913T>C (p.Ile638Thr) c.1910T>C (p.Ile637Thr) | gnomAD v4 |
| 16 | g.56885352T>G | CA395991699 | SLC12A3 | c.1913T>G (p.Ile638Ser) c.1910T>G (p.Ile637Ser) | |
| 16 | g.56885353C>A | CA8069649 | SLC12A3 | c.1914C>A (p.Ile638=) c.1911C>A (p.Ile637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56885353C= | CA2224356687 | SLC12A3 | c.1914C= (p.Ile638=) c.1911C= (p.Ile637=) | |
| 16 | g.56885353C>G | CA395991703 | SLC12A3 | c.1914C>G (p.Ile638Met) c.1911C>G (p.Ile637Met) | ClinVar dbSNP |
| 16 | g.56885353C>T | CA495604668 | SLC12A3 | c.1914C>T (p.Ile638=) c.1911C>T (p.Ile637=) | gnomAD v4 |
| 16 | g.56885354A>C | CA395991707 | SLC12A3 | c.1915A>C (p.Lys639Gln) c.1912A>C (p.Lys638Gln) | |
| 16 | g.56885354A>G | CA395991709 | SLC12A3 | c.1915A>G (p.Lys639Glu) c.1912A>G (p.Lys638Glu) | gnomAD v4 |
| 16 | g.56885354A>T | CA395991711 | SLC12A3 | c.1915A>T (p.Lys639Ter) c.1912A>T (p.Lys638Ter) | gnomAD v4 |
| 16 | g.56885355A>C | CA395991717 | SLC12A3 | c.1916A>C (p.Lys639Thr) c.1913A>C (p.Lys638Thr) | |
| 16 | g.56885355A>G | CA395991716 | SLC12A3 | c.1916A>G (p.Lys639Arg) c.1913A>G (p.Lys638Arg) | gnomAD v4 |
| 16 | g.56885355A>T | CA395991714 | SLC12A3 | c.1916A>T (p.Lys639Met) c.1913A>T (p.Lys638Met) | |
| 16 | g.56885356G>A | CA495604669 | SLC12A3 | c.1917G>A (p.Lys639=) c.1914G>A (p.Lys638=) | gnomAD v4 |
| 16 | g.56885356G>C | CA395991718 | SLC12A3 | c.1917G>C (p.Lys639Asn) c.1914G>C (p.Lys638Asn) | |
| 16 | g.56885356G>T | CA395991721 | SLC12A3 | c.1917G>T (p.Lys639Asn) c.1914G>T (p.Lys638Asn) | gnomAD v4 |
| 16 | g.56885357A>C | CA395991725 | SLC12A3 | c.1918A>C (p.Asn640His) c.1915A>C (p.Asn639His) | |
| 16 | g.56885357A>G | CA395991727 | SLC12A3 | c.1918A>G (p.Asn640Asp) c.1915A>G (p.Asn639Asp) | |
| 16 | g.56885357A>T | CA395991728 | SLC12A3 | c.1918A>T (p.Asn640Tyr) c.1915A>T (p.Asn639Tyr) | |
| 16 | g.56885358A= | CA2224356688 | SLC12A3 | c.1919A= (p.Asn640=) c.1916A= (p.Asn639=) | |
| 16 | g.56885358A>C | CA395991729 | SLC12A3 | c.1919A>C (p.Asn640Thr) c.1916A>C (p.Asn639Thr) | |
| 16 | g.56885358A>G | CA281505366 | SLC12A3 | c.1919A>G (p.Asn640Ser) c.1916A>G (p.Asn639Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885358A>T | CA395991730 | SLC12A3 | c.1919A>T (p.Asn640Ile) c.1916A>T (p.Asn639Ile) |