UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56884029G= | CA2224356151 | SLC12A3 | c.1670-20G= (n.1670-20G=) c.1667-20G= (n.1667-20G=) | |
| 16 | g.56884029G>T | CA8069574 | SLC12A3 | c.1670-20G>T (n.1670-20G>T) c.1667-20G>T (n.1667-20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884031C>G | CA2739266766 | SLC12A3 | c.1670-18C>G (n.1670-18C>G) c.1667-18C>G (n.1667-18C>G) | ClinVar |
| 16 | g.56884032T>C | CA2739266767 | SLC12A3 | c.1670-17T>C (n.1670-17T>C) c.1667-17T>C (n.1667-17T>C) | ClinVar |
| 16 | g.56884033G>A | CA2741488980 | SLC12A3 | c.1670-16G>A (n.1670-16G>A) c.1667-16G>A (n.1667-16G>A) | |
| 16 | g.56884034G= | CA2224356152 | SLC12A3 | c.1670-15G= (n.1670-15G=) c.1667-15G= (n.1667-15G=) | |
| 16 | g.56884034G>T | CA8069575 | SLC12A3 | c.1670-15G>T (n.1670-15G>T) c.1667-15G>T (n.1667-15G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884036G>A | CA722010239 | SLC12A3 | c.1670-13G>A (n.1670-13G>A) c.1667-13G>A (n.1667-13G>A) | dbSNP |
| 16 | g.56884036G= | CA2224356153 | SLC12A3 | c.1670-13G= (n.1670-13G=) c.1667-13G= (n.1667-13G=) | |
| 16 | g.56884036G>T | CA2224356154 | SLC12A3 | c.1670-13G>T (n.1670-13G>T) c.1667-13G>T (n.1667-13G>T) | dbSNP gnomAD v4 |
| 16 | g.56884038C>T | CA2633373068 | SLC12A3 | c.1670-11C>T (n.1670-11C>T) c.1667-11C>T (n.1667-11C>T) | gnomAD v4 |
| 16 | g.56884040_56884041delinsCC | CA2573152366 | SLC12A3 | c.1670-9_1670-8delinsCC (n.1670-9_1670-8delinsCC) c.1667-9_1667-8delinsCC (n.1667-9_1667-8delinsCC) | ClinVar dbSNP |
| 16 | g.56884041T>A | CA2581264019 | SLC12A3 | c.1670-8T>A (n.1670-8T>A) c.1667-8T>A (n.1667-8T>A) | |
| 16 | g.56884041T>C | CA8069576 | SLC12A3 | c.1670-8T>C (n.1670-8T>C) c.1667-8T>C (n.1667-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884041T>G | CA2224356156 | SLC12A3 | c.1670-8T>G (n.1670-8T>G) c.1667-8T>G (n.1667-8T>G) | dbSNP |
| 16 | g.56884041T= | CA2224356155 | SLC12A3 | c.1670-8T= (n.1670-8T=) c.1667-8T= (n.1667-8T=) | |
| 16 | g.56884041_56884042delinsCA | CA2695223447 | SLC12A3 | c.1670-8_1670-7delinsCA (n.1670-8_1670-7delinsCA) c.1667-8_1667-7delinsCA (n.1667-8_1667-7delinsCA) | |
| 16 | g.56884042G>A | CA2224356157 | SLC12A3 | c.1670-7G>A (n.1670-7G>A) c.1667-7G>A (n.1667-7G>A) | dbSNP gnomAD v4 |
| 16 | g.56884042G= | CA2224356158 | SLC12A3 | c.1670-7G= (n.1670-7G=) c.1667-7G= (n.1667-7G=) | |
| 16 | g.56884045C>A | CA2732474163 | SLC12A3 | c.1670-4C>A (n.1670-4C>A) c.1667-4C>A (n.1667-4C>A) | dbSNP |
| 16 | g.56884045C>G | CA2739266768 | SLC12A3 | c.1670-4C>G (n.1670-4C>G) c.1667-4C>G (n.1667-4C>G) | ClinVar |
| 16 | g.56884046C= | CA2224356159 | SLC12A3 | c.1670-3C= (n.1670-3C=) c.1667-3C= (n.1667-3C=) | |
| 16 | g.56884046C>T | CA977646132 | SLC12A3 | c.1670-3C>T (n.1670-3C>T) c.1667-3C>T (n.1667-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884047A>C | CA395990227 | SLC12A3 | c.1670-2A>C (n.1670-2A>C) c.1667-2A>C (n.1667-2A>C) | |
| 16 | g.56884047A>G | CA395990229 | SLC12A3 | c.1670-2A>G (n.1670-2A>G) c.1667-2A>G (n.1667-2A>G) | ClinVar |
| 16 | g.56884047A>T | CA395990231 | SLC12A3 | c.1670-2A>T (n.1670-2A>T) c.1667-2A>T (n.1667-2A>T) | |
| 16 | g.56884048G>A | CA395990233 | SLC12A3 | c.1670-1G>A (n.1670-1G>A) c.1667-1G>A (n.1667-1G>A) | gnomAD v4 |
| 16 | g.56884048G>C | CA395990235 | SLC12A3 | c.1670-1G>C (n.1670-1G>C) c.1667-1G>C (n.1667-1G>C) | ClinVar dbSNP |
| 16 | g.56884048G= | CA2224356160 | SLC12A3 | c.1670-1G= (n.1670-1G=) c.1667-1G= (n.1667-1G=) | |
| 16 | g.56884048G>T | CA395990236 | SLC12A3 | c.1670-1G>T (n.1670-1G>T) c.1667-1G>T (n.1667-1G>T) | ClinVar |
| 16 | g.56884049G>A | CA395990239 | SLC12A3 | c.1670G>A (p.Gly557Glu) c.1667G>A (p.Gly556Glu) | |
| 16 | g.56884049G>C | CA395990242 | SLC12A3 | c.1670G>C (p.Gly557Ala) c.1667G>C (p.Gly556Ala) | |
| 16 | g.56884049G>T | CA395990241 | SLC12A3 | c.1670G>T (p.Gly557Val) c.1667G>T (p.Gly556Val) | |
| 16 | g.56884050G>A | CA495604504 | SLC12A3 | c.1671G>A (p.Gly557=) c.1668G>A (p.Gly556=) | ClinVar dbSNP COSMIC |
| 16 | g.56884050G>C | CA495604505 | SLC12A3 | c.1671G>C (p.Gly557=) c.1668G>C (p.Gly556=) | |
| 16 | g.56884050G>T | CA495604506 | SLC12A3 | c.1671G>T (p.Gly557=) c.1668G>T (p.Gly556=) | |
| 16 | g.56884051T>A | CA395990245 | SLC12A3 | c.1672T>A (p.Trp558Arg) c.1669T>A (p.Trp557Arg) | |
| 16 | g.56884051T>C | CA395990247 | SLC12A3 | c.1672T>C (p.Trp558Arg) c.1669T>C (p.Trp557Arg) | ClinVar |
| 16 | g.56884051T>G | CA395990248 | SLC12A3 | c.1672T>G (p.Trp558Gly) c.1669T>G (p.Trp557Gly) | |
| 16 | g.56884052G>A | CA395990249 | SLC12A3 | c.1673G>A (p.Trp558Ter) c.1670G>A (p.Trp557Ter) | dbSNP COSMIC |
| 16 | g.56884052G>C | CA395990250 | SLC12A3 | c.1673G>C (p.Trp558Ser) c.1670G>C (p.Trp557Ser) | |
| 16 | g.56884052G= | CA2224356161 | SLC12A3 | c.1673G= (p.Trp558=) c.1670G= (p.Trp557=) | |
| 16 | g.56884052G>T | CA395990251 | SLC12A3 | c.1673G>T (p.Trp558Leu) c.1670G>T (p.Trp557Leu) | |
| 16 | g.56884053G>A | CA395990254 | SLC12A3 | c.1674G>A (p.Trp558Ter) c.1671G>A (p.Trp557Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56884053G>C | CA395990256 | SLC12A3 | c.1674G>C (p.Trp558Cys) c.1671G>C (p.Trp557Cys) | |
| 16 | g.56884053G>T | CA395990257 | SLC12A3 | c.1674G>T (p.Trp558Cys) c.1671G>T (p.Trp557Cys) | |
| 16 | g.56884054A>C | CA495604507 | SLC12A3 | c.1675A>C (p.Arg559=) c.1672A>C (p.Arg558=) | |
| 16 | g.56884054A>G | CA395990260 | SLC12A3 | c.1675A>G (p.Arg559Gly) c.1672A>G (p.Arg558Gly) | |
| 16 | g.56884054A>T | CA395990262 | SLC12A3 | c.1675A>T (p.Arg559Ter) c.1672A>T (p.Arg558Ter) | |
| 16 | g.56884055G>A | CA395990263 | SLC12A3 | c.1676G>A (p.Arg559Lys) c.1673G>A (p.Arg558Lys) | gnomAD v4 |
| 16 | g.56884055G>C | CA395990267 | SLC12A3 | c.1676G>C (p.Arg559Thr) c.1673G>C (p.Arg558Thr) | |
| 16 | g.56884055G>T | CA395990264 | SLC12A3 | c.1676G>T (p.Arg559Ile) c.1673G>T (p.Arg558Ile) | |
| 16 | g.56884056A>C | CA395990270 | SLC12A3 | c.1677A>C (p.Arg559Ser) c.1674A>C (p.Arg558Ser) | |
| 16 | g.56884056A>G | CA495604508 | SLC12A3 | c.1677A>G (p.Arg559=) c.1674A>G (p.Arg558=) | |
| 16 | g.56884056A>T | CA395990272 | SLC12A3 | c.1677A>T (p.Arg559Ser) c.1674A>T (p.Arg558Ser) | |
| 16 | g.56884057C>A | CA281504446 | SLC12A3 | c.1678C>A (p.Pro560Thr) c.1675C>A (p.Pro559Thr) | dbSNP gnomAD v4 |
| 16 | g.56884057C= | CA2224356162 | SLC12A3 | c.1678C= (p.Pro560=) c.1675C= (p.Pro559=) | |
| 16 | g.56884057C>G | CA395990276 | SLC12A3 | c.1678C>G (p.Pro560Ala) c.1675C>G (p.Pro559Ala) | |
| 16 | g.56884057C>T | CA395990277 | SLC12A3 | c.1678C>T (p.Pro560Ser) c.1675C>T (p.Pro559Ser) | |
| 16 | g.56884057_56884058delinsGA | CA2573332962 | SLC12A3 | c.1678_1679delinsGA (p.Pro560Asp) c.1675_1676delinsGA (p.Pro559Asp) | ClinVar |
| 16 | g.56884058C>A | CA395990279 | SLC12A3 | c.1679C>A (p.Pro560His) c.1676C>A (p.Pro559His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.56884058C= | CA2224356163 | SLC12A3 | c.1679C= (p.Pro560=) c.1676C= (p.Pro559=) | |
| 16 | g.56884058C>G | CA395990281 | SLC12A3 | c.1679C>G (p.Pro560Arg) c.1676C>G (p.Pro559Arg) | dbSNP gnomAD v4 |
| 16 | g.56884058C>T | CA395990283 | SLC12A3 | c.1679C>T (p.Pro560Leu) c.1676C>T (p.Pro559Leu) | |
| 16 | g.56884059_56884061del | CA2580091699 | SLC12A3 | c.1680_1682del (p.Ser561del) c.1677_1679del (p.Ser560del) | ClinVar dbSNP |
| 16 | g.56884059T>A | CA495604511 | SLC12A3 | c.1680T>A (p.Pro560=) c.1677T>A (p.Pro559=) | |
| 16 | g.56884059T>C | CA495604510 | SLC12A3 | c.1680T>C (p.Pro560=) c.1677T>C (p.Pro559=) | |
| 16 | g.56884059T>G | CA495604509 | SLC12A3 | c.1680T>G (p.Pro560=) c.1677T>G (p.Pro559=) | |
| 16 | g.56884060T>A | CA395990285 | SLC12A3 | c.1681T>A (p.Ser561Thr) c.1678T>A (p.Ser560Thr) | |
| 16 | g.56884060T>C | CA395990287 | SLC12A3 | c.1681T>C (p.Ser561Pro) c.1678T>C (p.Ser560Pro) | |
| 16 | g.56884060T>G | CA395990288 | SLC12A3 | c.1681T>G (p.Ser561Ala) c.1678T>G (p.Ser560Ala) | |
| 16 | g.56884061C>A | CA395990292 | SLC12A3 | c.1682C>A (p.Ser561Ter) c.1679C>A (p.Ser560Ter) | |
| 16 | g.56884061C>G | CA395990293 | SLC12A3 | c.1682C>G (p.Ser561Ter) c.1679C>G (p.Ser560Ter) | |
| 16 | g.56884061C>T | CA395990294 | SLC12A3 | c.1682C>T (p.Ser561Leu) c.1679C>T (p.Ser560Leu) | |
| 16 | g.56884063_56884075del | CA2695196545 | SLC12A3 | c.1684_1696del (p.Phe562ThrfsTer?) c.1681_1693del (p.Phe561ThrfsTer?) | |
| 16 | g.56884062A= | CA2224356164 | SLC12A3 | c.1683A= (p.Ser561=) c.1680A= (p.Ser560=) | |
| 16 | g.56884062A>C | CA495604514 | SLC12A3 | c.1683A>C (p.Ser561=) c.1680A>C (p.Ser560=) | |
| 16 | g.56884062A>G | CA495604513 | SLC12A3 | c.1683A>G (p.Ser561=) c.1680A>G (p.Ser560=) | dbSNP |
| 16 | g.56884062A>T | CA495604512 | SLC12A3 | c.1683A>T (p.Ser561=) c.1680A>T (p.Ser560=) | |
| 16 | g.56884063T>A | CA395990299 | SLC12A3 | c.1684T>A (p.Phe562Ile) c.1681T>A (p.Phe561Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884063T>C | CA395990297 | SLC12A3 | c.1684T>C (p.Phe562Leu) c.1681T>C (p.Phe561Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884063T>G | CA395990295 | SLC12A3 | c.1684T>G (p.Phe562Val) c.1681T>G (p.Phe561Val) | |
| 16 | g.56884063T= | CA2224356165 | SLC12A3 | c.1684T= (p.Phe562=) c.1681T= (p.Phe561=) | |
| 16 | g.56884064T>A | CA395990301 | SLC12A3 | c.1685T>A (p.Phe562Tyr) c.1682T>A (p.Phe561Tyr) | |
| 16 | g.56884064T>C | CA395990307 | SLC12A3 | c.1685T>C (p.Phe562Ser) c.1682T>C (p.Phe561Ser) | |
| 16 | g.56884064T>G | CA395990310 | SLC12A3 | c.1685T>G (p.Phe562Cys) c.1682T>G (p.Phe561Cys) | |
| 16 | g.56884065C>A | CA395990312 | SLC12A3 | c.1686C>A (p.Phe562Leu) c.1683C>A (p.Phe561Leu) | |
| 16 | g.56884065C>G | CA395990313 | SLC12A3 | c.1686C>G (p.Phe562Leu) c.1683C>G (p.Phe561Leu) | gnomAD v4 |
| 16 | g.56884065C>T | CA495604515 | SLC12A3 | c.1686C>T (p.Phe562=) c.1683C>T (p.Phe561=) | |
| 16 | g.56884066C>A | CA395990315 | SLC12A3 | c.1687C>A (p.Gln563Lys) c.1684C>A (p.Gln562Lys) | |
| 16 | g.56884066C>G | CA395990317 | SLC12A3 | c.1687C>G (p.Gln563Glu) c.1684C>G (p.Gln562Glu) | |
| 16 | g.56884066C>T | CA395990319 | SLC12A3 | c.1687C>T (p.Gln563Ter) c.1684C>T (p.Gln562Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.56884067A>C | CA395990321 | SLC12A3 | c.1688A>C (p.Gln563Pro) c.1685A>C (p.Gln562Pro) | |
| 16 | g.56884067A>G | CA395990322 | SLC12A3 | c.1688A>G (p.Gln563Arg) c.1685A>G (p.Gln562Arg) | |
| 16 | g.56884067A>T | CA395990323 | SLC12A3 | c.1688A>T (p.Gln563Leu) c.1685A>T (p.Gln562Leu) | |
| 16 | g.56884068A>C | CA395990326 | SLC12A3 | c.1689A>C (p.Gln563His) c.1686A>C (p.Gln562His) | |
| 16 | g.56884068A>G | CA495604516 | SLC12A3 | c.1689A>G (p.Gln563=) c.1686A>G (p.Gln562=) | |
| 16 | g.56884068A>T | CA395990328 | SLC12A3 | c.1689A>T (p.Gln563His) c.1686A>T (p.Gln562His) | |
| 16 | g.56884069T>A | CA395990332 | SLC12A3 | c.1690T>A (p.Tyr564Asn) c.1687T>A (p.Tyr563Asn) | |
| 16 | g.56884069T>C | CA395990334 | SLC12A3 | c.1690T>C (p.Tyr564His) c.1687T>C (p.Tyr563His) | |
| 16 | g.56884069T>G | CA395990331 | SLC12A3 | c.1690T>G (p.Tyr564Asp) c.1687T>G (p.Tyr563Asp) | |
| 16 | g.56884069_56884075delinsTACTACA | CA2224356166 | SLC12A3 | c.1690_1696delinsTACTACA (p.Tyr564=) c.1687_1693delinsTACTACA (p.Tyr563=) | |
| 16 | g.56884070A>C | CA395990336 | SLC12A3 | c.1691A>C (p.Tyr564Ser) c.1688A>C (p.Tyr563Ser) | |
| 16 | g.56884070A>G | CA395990337 | SLC12A3 | c.1691A>G (p.Tyr564Cys) c.1688A>G (p.Tyr563Cys) | |
| 16 | g.56884070A>T | CA395990339 | SLC12A3 | c.1691A>T (p.Tyr564Phe) c.1688A>T (p.Tyr563Phe) | |
| 16 | g.56884072_56884077del | CA622656621 | SLC12A3 | c.1693_1698del (p.Tyr565_Asn566del) c.1690_1695del (p.Tyr564_Asn565del) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884071C>A | CA395990342 | SLC12A3 | c.1692C>A (p.Tyr564Ter) c.1689C>A (p.Tyr563Ter) | |
| 16 | g.56884071C= | CA2224356167 | SLC12A3 | c.1692C= (p.Tyr564=) c.1689C= (p.Tyr563=) | |
| 16 | g.56884071C>G | CA395990343 | SLC12A3 | c.1692C>G (p.Tyr564Ter) c.1689C>G (p.Tyr563Ter) | |
| 16 | g.56884071C>T | CA495604517 | SLC12A3 | c.1692C>T (p.Tyr564=) c.1689C>T (p.Tyr563=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.56884072T>A | CA395990346 | SLC12A3 | c.1693T>A (p.Tyr565Asn) c.1690T>A (p.Tyr564Asn) | |
| 16 | g.56884072T>C | CA395990348 | SLC12A3 | c.1693T>C (p.Tyr565His) c.1690T>C (p.Tyr564His) | |
| 16 | g.56884072T>G | CA395990350 | SLC12A3 | c.1693T>G (p.Tyr565Asp) c.1690T>G (p.Tyr564Asp) | |
| 16 | g.56884072_56884075delinsTACA | CA2224356168 | SLC12A3 | c.1693_1696delinsTACA (p.Tyr565=) c.1690_1693delinsTACA (p.Tyr564=) | |
| 16 | g.56884073A>C | CA395990352 | SLC12A3 | c.1694A>C (p.Tyr565Ser) c.1691A>C (p.Tyr564Ser) | |
| 16 | g.56884073A>G | CA395990354 | SLC12A3 | c.1694A>G (p.Tyr565Cys) c.1691A>G (p.Tyr564Cys) | |
| 16 | g.56884073A>T | CA395990356 | SLC12A3 | c.1694A>T (p.Tyr565Phe) c.1691A>T (p.Tyr564Phe) | |
| 16 | g.56884077_56884079del | CA8069577 | SLC12A3 | c.1698_1700del (p.Asn566del) c.1695_1697del (p.Asn565del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884074C>A | CA395990361 | SLC12A3 | c.1695C>A (p.Tyr565Ter) c.1692C>A (p.Tyr564Ter) | |
| 16 | g.56884074C>G | CA395990359 | SLC12A3 | c.1695C>G (p.Tyr565Ter) c.1692C>G (p.Tyr564Ter) | |
| 16 | g.56884074C>T | CA495604518 | SLC12A3 | c.1695C>T (p.Tyr565=) c.1692C>T (p.Tyr564=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56884075A= | CA2224356169 | SLC12A3 | c.1696A= (p.Asn566=) c.1693A= (p.Asn565=) | |
| 16 | g.56884075A>C | CA395990363 | SLC12A3 | c.1696A>C (p.Asn566His) c.1693A>C (p.Asn565His) | |
| 16 | g.56884075A>G | CA395990365 | SLC12A3 | c.1696A>G (p.Asn566Asp) c.1693A>G (p.Asn565Asp) | |
| 16 | g.56884075A>T | CA8069578 | SLC12A3 | c.1696A>T (p.Asn566Tyr) c.1693A>T (p.Asn565Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884076A>C | CA395990368 | SLC12A3 | c.1697A>C (p.Asn566Thr) c.1694A>C (p.Asn565Thr) | |
| 16 | g.56884076A>G | CA395990370 | SLC12A3 | c.1697A>G (p.Asn566Ser) c.1694A>G (p.Asn565Ser) | COSMIC |
| 16 | g.56884076A>T | CA395990371 | SLC12A3 | c.1697A>T (p.Asn566Ile) c.1694A>T (p.Asn565Ile) | |
| 16 | g.56884077C>A | CA8069579 | SLC12A3 | c.1698C>A (p.Asn566Lys) c.1695C>A (p.Asn565Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884077C= | CA2224356170 | SLC12A3 | c.1698C= (p.Asn566=) c.1695C= (p.Asn565=) | |
| 16 | g.56884077C>G | CA395990373 | SLC12A3 | c.1698C>G (p.Asn566Lys) c.1695C>G (p.Asn565Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884077C>T | CA8069580 | SLC12A3 | c.1698C>T (p.Asn566=) c.1695C>T (p.Asn565=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884078A>C | CA395990375 | SLC12A3 | c.1699A>C (p.Lys567Gln) c.1696A>C (p.Lys566Gln) | |
| 16 | g.56884078A>G | CA395990377 | SLC12A3 | c.1699A>G (p.Lys567Glu) c.1696A>G (p.Lys566Glu) | |
| 16 | g.56884078A>T | CA395990379 | SLC12A3 | c.1699A>T (p.Lys567Ter) c.1696A>T (p.Lys566Ter) | |
| 16 | g.56884079A>C | CA395990383 | SLC12A3 | c.1700A>C (p.Lys567Thr) c.1697A>C (p.Lys566Thr) | |
| 16 | g.56884079A>G | CA395990385 | SLC12A3 | c.1700A>G (p.Lys567Arg) c.1697A>G (p.Lys566Arg) | |
| 16 | g.56884079A>T | CA395990381 | SLC12A3 | c.1700A>T (p.Lys567Met) c.1697A>T (p.Lys566Met) | |
| 16 | g.56884080G>A | CA495604519 | SLC12A3 | c.1701G>A (p.Lys567=) c.1698G>A (p.Lys566=) | ClinVar |
| 16 | g.56884080G>C | CA395990389 | SLC12A3 | c.1701G>C (p.Lys567Asn) c.1698G>C (p.Lys566Asn) | gnomAD v4 |
| 16 | g.56884080G>T | CA395990387 | SLC12A3 | c.1701G>T (p.Lys567Asn) c.1698G>T (p.Lys566Asn) | |
| 16 | g.56884081del | CA2580091700 | SLC12A3 | c.1702del (p.Trp568GlyfsTer?) c.1699del (p.Trp567GlyfsTer?) | ClinVar |
| 16 | g.56884081T>A | CA395990392 | SLC12A3 | c.1702T>A (p.Trp568Arg) c.1699T>A (p.Trp567Arg) | |
| 16 | g.56884081T>C | CA8069581 | SLC12A3 | c.1702T>C (p.Trp568Arg) c.1699T>C (p.Trp567Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884081T>G | CA395990394 | SLC12A3 | c.1702T>G (p.Trp568Gly) c.1699T>G (p.Trp567Gly) | |
| 16 | g.56884081T= | CA2224356171 | SLC12A3 | c.1702T= (p.Trp568=) c.1699T= (p.Trp567=) | |
| 16 | g.56884082G>A | CA395990396 | SLC12A3 | c.1703G>A (p.Trp568Ter) c.1700G>A (p.Trp567Ter) | ClinVar |
| 16 | g.56884082G>C | CA395990398 | SLC12A3 | c.1703G>C (p.Trp568Ser) c.1700G>C (p.Trp567Ser) | |
| 16 | g.56884082G>T | CA395990400 | SLC12A3 | c.1703G>T (p.Trp568Leu) c.1700G>T (p.Trp567Leu) | |
| 16 | g.56884083G>A | CA395990402 | SLC12A3 | c.1704G>A (p.Trp568Ter) c.1701G>A (p.Trp567Ter) | |
| 16 | g.56884083G>C | CA395990404 | SLC12A3 | c.1704G>C (p.Trp568Cys) c.1701G>C (p.Trp567Cys) | |
| 16 | g.56884083G>T | CA395990406 | SLC12A3 | c.1704G>T (p.Trp568Cys) c.1701G>T (p.Trp567Cys) | |
| 16 | g.56884084G>A | CA395990408 | SLC12A3 | c.1705G>A (p.Ala569Thr) c.1702G>A (p.Ala568Thr) | gnomAD v4 |
| 16 | g.56884084G>C | CA395990410 | SLC12A3 | c.1705G>C (p.Ala569Pro) c.1702G>C (p.Ala568Pro) | |
| 16 | g.56884084G>T | CA395990413 | SLC12A3 | c.1705G>T (p.Ala569Ser) c.1702G>T (p.Ala568Ser) | |
| 16 | g.56884085C>A | CA395990422 | SLC12A3 | c.1706C>A (p.Ala569Glu) c.1703C>A (p.Ala568Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884085C= | CA2224356172 | SLC12A3 | c.1706C= (p.Ala569=) c.1703C= (p.Ala568=) | |
| 16 | g.56884085C>G | CA395990417 | SLC12A3 | c.1706C>G (p.Ala569Gly) c.1703C>G (p.Ala568Gly) | |
| 16 | g.56884085C>T | CA8069582 | SLC12A3 | c.1706C>T (p.Ala569Val) c.1703C>T (p.Ala568Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56884086G>A | CA8069583 | SLC12A3 | c.1707G>A (p.Ala569=) c.1704G>A (p.Ala568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884086G>C | CA495604520 | SLC12A3 | c.1707G>C (p.Ala569=) c.1704G>C (p.Ala568=) | |
| 16 | g.56884086G= | CA2224356173 | SLC12A3 | c.1707G= (p.Ala569=) c.1704G= (p.Ala568=) | |
| 16 | g.56884086G>T | CA495604521 | SLC12A3 | c.1707G>T (p.Ala569=) c.1704G>T (p.Ala568=) | dbSNP |
| 16 | g.56884087G>A | CA395990427 | SLC12A3 | c.1708G>A (p.Ala570Thr) c.1705G>A (p.Ala569Thr) | dbSNP gnomAD v2 |
| 16 | g.56884087G>C | CA395990430 | SLC12A3 | c.1708G>C (p.Ala570Pro) c.1705G>C (p.Ala569Pro) | |
| 16 | g.56884087G= | CA2224356174 | SLC12A3 | c.1708G= (p.Ala570=) c.1705G= (p.Ala569=) | |
| 16 | g.56884087G>T | CA395990433 | SLC12A3 | c.1708G>T (p.Ala570Ser) c.1705G>T (p.Ala569Ser) | |
| 16 | g.56884088C>A | CA395990437 | SLC12A3 | c.1709C>A (p.Ala570Glu) c.1706C>A (p.Ala569Glu) | |
| 16 | g.56884088C= | CA2224356175 | SLC12A3 | c.1709C= (p.Ala570=) c.1706C= (p.Ala569=) | |
| 16 | g.56884088C>G | CA395990440 | SLC12A3 | c.1709C>G (p.Ala570Gly) c.1706C>G (p.Ala569Gly) | |
| 16 | g.56884088C>T | CA8069584 | SLC12A3 | c.1709C>T (p.Ala570Val) c.1706C>T (p.Ala569Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884089G>A | CA216092 | SLC12A3 | c.1710G>A (p.Ala570=) c.1707G>A (p.Ala569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884089G>C | CA495604523 | SLC12A3 | c.1710G>C (p.Ala570=) c.1707G>C (p.Ala569=) | |
| 16 | g.56884089G= | CA2224356176 | SLC12A3 | c.1710G= (p.Ala570=) c.1707G= (p.Ala569=) | |
| 16 | g.56884089G>T | CA495604524 | SLC12A3 | c.1710G>T (p.Ala570=) c.1707G>T (p.Ala569=) | |
| 16 | g.56884089_56884106delinsGCTGTTTGGGGCTATCAT | CA2224356177 | SLC12A3 | c.1710_1727delinsGCTGTTTGGGGCTATCAT (p.Ala570=) c.1707_1724delinsGCTGTTTGGGGCTATCAT (p.Ala569=) | |
| 16 | g.56884090C>A | CA395990447 | SLC12A3 | c.1711C>A (p.Leu571Met) c.1708C>A (p.Leu570Met) | |
| 16 | g.56884090C= | CA2224356178 | SLC12A3 | c.1711C= (p.Leu571=) c.1708C= (p.Leu570=) | |
| 16 | g.56884090C>G | CA395990449 | SLC12A3 | c.1711C>G (p.Leu571Val) c.1708C>G (p.Leu570Val) | |
| 16 | g.56884090C>T | CA8069585 | SLC12A3 | c.1711C>T (p.Leu571=) c.1708C>T (p.Leu570=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884092_56884108del | CA2224356179 | SLC12A3 | c.1713_1729del (p.Phe572ArgfsTer?) c.1710_1726del (p.Phe571ArgfsTer?) | dbSNP |
| 16 | g.56884091T>A | CA395990458 | SLC12A3 | c.1712T>A (p.Leu571Gln) c.1709T>A (p.Leu570Gln) | |
| 16 | g.56884091T>C | CA395990456 | SLC12A3 | c.1712T>C (p.Leu571Pro) c.1709T>C (p.Leu570Pro) | dbSNP gnomAD v4 |
| 16 | g.56884091T>G | CA395990453 | SLC12A3 | c.1712T>G (p.Leu571Arg) c.1709T>G (p.Leu570Arg) | |
| 16 | g.56884091T= | CA2224356180 | SLC12A3 | c.1712T= (p.Leu571=) c.1709T= (p.Leu570=) | |
| 16 | g.56884092G>A | CA495604525 | SLC12A3 | c.1713G>A (p.Leu571=) c.1710G>A (p.Leu570=) | |
| 16 | g.56884092G>C | CA495604526 | SLC12A3 | c.1713G>C (p.Leu571=) c.1710G>C (p.Leu570=) | |
| 16 | g.56884092G>T | CA495604527 | SLC12A3 | c.1713G>T (p.Leu571=) c.1710G>T (p.Leu570=) | |
| 16 | g.56884093T>A | CA395990461 | SLC12A3 | c.1714T>A (p.Phe572Ile) c.1711T>A (p.Phe571Ile) | |
| 16 | g.56884093T>C | CA395990463 | SLC12A3 | c.1714T>C (p.Phe572Leu) c.1711T>C (p.Phe571Leu) | dbSNP gnomAD v2 |
| 16 | g.56884093T>G | CA395990465 | SLC12A3 | c.1714T>G (p.Phe572Val) c.1711T>G (p.Phe571Val) | |
| 16 | g.56884093T= | CA2224356181 | SLC12A3 | c.1714T= (p.Phe572=) c.1711T= (p.Phe571=) | |
| 16 | g.56884094T>A | CA395990468 | SLC12A3 | c.1715T>A (p.Phe572Tyr) c.1712T>A (p.Phe571Tyr) | |
| 16 | g.56884094T>C | CA395990470 | SLC12A3 | c.1715T>C (p.Phe572Ser) c.1712T>C (p.Phe571Ser) | gnomAD v4 |
| 16 | g.56884094T>G | CA395990472 | SLC12A3 | c.1715T>G (p.Phe572Cys) c.1712T>G (p.Phe571Cys) | |
| 16 | g.56884095T>A | CA395990473 | SLC12A3 | c.1716T>A (p.Phe572Leu) c.1713T>A (p.Phe571Leu) | |
| 16 | g.56884095T>C | CA495604528 | SLC12A3 | c.1716T>C (p.Phe572=) c.1713T>C (p.Phe571=) | |
| 16 | g.56884095T>G | CA395990474 | SLC12A3 | c.1716T>G (p.Phe572Leu) c.1713T>G (p.Phe571Leu) | gnomAD v4 |
| 16 | g.56884096G>A | CA395990476 | SLC12A3 | c.1717G>A (p.Gly573Arg) c.1714G>A (p.Gly572Arg) | |
| 16 | g.56884096G>C | CA395990478 | SLC12A3 | c.1717G>C (p.Gly573Arg) c.1714G>C (p.Gly572Arg) | |
| 16 | g.56884096G>T | CA395990481 | SLC12A3 | c.1717G>T (p.Gly573Trp) c.1714G>T (p.Gly572Trp) | |
| 16 | g.56884097G>A | CA281504474 | SLC12A3 | c.1718G>A (p.Gly573Glu) c.1715G>A (p.Gly572Glu) | dbSNP gnomAD v4 |
| 16 | g.56884097G>C | CA8069586 | SLC12A3 | c.1718G>C (p.Gly573Ala) c.1715G>C (p.Gly572Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884097G= | CA2224356182 | SLC12A3 | c.1718G= (p.Gly573=) c.1715G= (p.Gly572=) | |
| 16 | g.56884097G>T | CA395990488 | SLC12A3 | c.1718G>T (p.Gly573Val) c.1715G>T (p.Gly572Val) | |
| 16 | g.56884098G>A | CA8069588 | SLC12A3 | c.1719G>A (p.Gly573=) c.1716G>A (p.Gly572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884098G>C | CA495604529 | SLC12A3 | c.1719G>C (p.Gly573=) c.1716G>C (p.Gly572=) | |
| 16 | g.56884098G= | CA2224356183 | SLC12A3 | c.1719G= (p.Gly573=) c.1716G= (p.Gly572=) | |
| 16 | g.56884098G>T | CA8069587 | SLC12A3 | c.1719G>T (p.Gly573=) c.1716G>T (p.Gly572=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884099G>A | CA395990497 | SLC12A3 | c.1720G>A (p.Ala574Thr) c.1717G>A (p.Ala573Thr) | |
| 16 | g.56884099G>C | CA395990500 | SLC12A3 | c.1720G>C (p.Ala574Pro) c.1717G>C (p.Ala573Pro) | |
| 16 | g.56884099G= | CA2224356184 | SLC12A3 | c.1720G= (p.Ala574=) c.1717G= (p.Ala573=) | |
| 16 | g.56884099G>T | CA8069589 | SLC12A3 | c.1720G>T (p.Ala574Ser) c.1717G>T (p.Ala573Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884100C>A | CA395990505 | SLC12A3 | c.1721C>A (p.Ala574Asp) c.1718C>A (p.Ala573Asp) | gnomAD v4 |
| 16 | g.56884100C>G | CA395990507 | SLC12A3 | c.1721C>G (p.Ala574Gly) c.1718C>G (p.Ala573Gly) | |
| 16 | g.56884100C>T | CA395990510 | SLC12A3 | c.1721C>T (p.Ala574Val) c.1718C>T (p.Ala573Val) | |
| 16 | g.56884101T>A | CA495604532 | SLC12A3 | c.1722T>A (p.Ala574=) c.1719T>A (p.Ala573=) | |
| 16 | g.56884101T>C | CA495604531 | SLC12A3 | c.1722T>C (p.Ala574=) c.1719T>C (p.Ala573=) | |
| 16 | g.56884101T>G | CA495604530 | SLC12A3 | c.1722T>G (p.Ala574=) c.1719T>G (p.Ala573=) | |
| 16 | g.56884102A= | CA2224356185 | SLC12A3 | c.1723A= (p.Ile575=) c.1720A= (p.Ile574=) | |
| 16 | g.56884102A>C | CA395990512 | SLC12A3 | c.1723A>C (p.Ile575Leu) c.1720A>C (p.Ile574Leu) | |
| 16 | g.56884102A>G | CA8069590 | SLC12A3 | c.1723A>G (p.Ile575Val) c.1720A>G (p.Ile574Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884102A>T | CA395990517 | SLC12A3 | c.1723A>T (p.Ile575Phe) c.1720A>T (p.Ile574Phe) | |
| 16 | g.56884103T>A | CA395990520 | SLC12A3 | c.1724T>A (p.Ile575Asn) c.1721T>A (p.Ile574Asn) | |
| 16 | g.56884103T>C | CA395990524 | SLC12A3 | c.1724T>C (p.Ile575Thr) c.1721T>C (p.Ile574Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884103T>G | CA395990526 | SLC12A3 | c.1724T>G (p.Ile575Ser) c.1721T>G (p.Ile574Ser) | |
| 16 | g.56884103T= | CA2224356186 | SLC12A3 | c.1724T= (p.Ile575=) c.1721T= (p.Ile574=) | |
| 16 | g.56884104C>A | CA495604533 | SLC12A3 | c.1725C>A (p.Ile575=) c.1722C>A (p.Ile574=) | dbSNP |
| 16 | g.56884104C= | CA2224356187 | SLC12A3 | c.1725C= (p.Ile575=) c.1722C= (p.Ile574=) | |
| 16 | g.56884104C>G | CA395990531 | SLC12A3 | c.1725C>G (p.Ile575Met) c.1722C>G (p.Ile574Met) | |
| 16 | g.56884104C>T | CA495604534 | SLC12A3 | c.1725C>T (p.Ile575=) c.1722C>T (p.Ile574=) | ClinVar gnomAD v4 COSMIC |
| 16 | g.56884105A= | CA2224356188 | SLC12A3 | c.1726A= (p.Ile576=) c.1723A= (p.Ile575=) | |
| 16 | g.56884105A>C | CA395990533 | SLC12A3 | c.1726A>C (p.Ile576Leu) c.1723A>C (p.Ile575Leu) | |
| 16 | g.56884105A>G | CA395990535 | SLC12A3 | c.1726A>G (p.Ile576Val) c.1723A>G (p.Ile575Val) | ClinVar dbSNP |
| 16 | g.56884105A>T | CA395990532 | SLC12A3 | c.1726A>T (p.Ile576Phe) c.1723A>T (p.Ile575Phe) | |
| 16 | g.56884106T>A | CA395990541 | SLC12A3 | c.1727T>A (p.Ile576Asn) c.1724T>A (p.Ile575Asn) | |
| 16 | g.56884106T>C | CA395990538 | SLC12A3 | c.1727T>C (p.Ile576Thr) c.1724T>C (p.Ile575Thr) | |
| 16 | g.56884106T>G | CA395990543 | SLC12A3 | c.1727T>G (p.Ile576Ser) c.1724T>G (p.Ile575Ser) | |
| 16 | g.56884107C>A | CA495604536 | SLC12A3 | c.1728C>A (p.Ile576=) c.1725C>A (p.Ile575=) | |
| 16 | g.56884107C>G | CA395990546 | SLC12A3 | c.1728C>G (p.Ile576Met) c.1725C>G (p.Ile575Met) | |
| 16 | g.56884107C>T | CA495604535 | SLC12A3 | c.1728C>T (p.Ile576=) c.1725C>T (p.Ile575=) | ClinVar |
| 16 | g.56884108T>A | CA395990550 | SLC12A3 | c.1729T>A (p.Ser577Thr) c.1726T>A (p.Ser576Thr) | |
| 16 | g.56884108T>C | CA395990554 | SLC12A3 | c.1729T>C (p.Ser577Pro) c.1726T>C (p.Ser576Pro) | |
| 16 | g.56884108T>G | CA395990557 | SLC12A3 | c.1729T>G (p.Ser577Ala) c.1726T>G (p.Ser576Ala) | |
| 16 | g.56884109C>A | CA395990560 | SLC12A3 | c.1730C>A (p.Ser577Tyr) c.1727C>A (p.Ser576Tyr) | |
| 16 | g.56884109C>G | CA395990563 | SLC12A3 | c.1730C>G (p.Ser577Cys) c.1727C>G (p.Ser576Cys) | |
| 16 | g.56884109C>T | CA395990566 | SLC12A3 | c.1730C>T (p.Ser577Phe) c.1727C>T (p.Ser576Phe) | |
| 16 | g.56884110C>A | CA495604537 | SLC12A3 | c.1731C>A (p.Ser577=) c.1728C>A (p.Ser576=) | |
| 16 | g.56884110C= | CA2224356189 | SLC12A3 | c.1731C= (p.Ser577=) c.1728C= (p.Ser576=) | |
| 16 | g.56884110C>G | CA495604538 | SLC12A3 | c.1731C>G (p.Ser577=) c.1728C>G (p.Ser576=) | |
| 16 | g.56884110C>T | CA8069591 | SLC12A3 | c.1731C>T (p.Ser577=) c.1728C>T (p.Ser576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884111G>A | CA8069592 | SLC12A3 | c.1732G>A (p.Val578Met) c.1729G>A (p.Val577Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884111G>C | CA395990572 | SLC12A3 | c.1732G>C (p.Val578Leu) c.1729G>C (p.Val577Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56884111G= | CA2224356190 | SLC12A3 | c.1732G= (p.Val578=) c.1729G= (p.Val577=) | |
| 16 | g.56884111G>T | CA395990575 | SLC12A3 | c.1732G>T (p.Val578Leu) c.1729G>T (p.Val577Leu) | |
| 16 | g.56884112T>A | CA395990580 | SLC12A3 | c.1733T>A (p.Val578Glu) c.1730T>A (p.Val577Glu) | |
| 16 | g.56884112T>C | CA395990582 | SLC12A3 | c.1733T>C (p.Val578Ala) c.1730T>C (p.Val577Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56884112T>G | CA395990584 | SLC12A3 | c.1733T>G (p.Val578Gly) c.1730T>G (p.Val577Gly) | |
| 16 | g.56884112T= | CA2224356191 | SLC12A3 | c.1733T= (p.Val578=) c.1730T= (p.Val577=) | |
| 16 | g.56884113G>A | CA495604539 | SLC12A3 | c.1734G>A (p.Val578=) c.1731G>A (p.Val577=) | |
| 16 | g.56884113G>C | CA495604540 | SLC12A3 | c.1734G>C (p.Val578=) c.1731G>C (p.Val577=) | |
| 16 | g.56884113G>T | CA495604541 | SLC12A3 | c.1734G>T (p.Val578=) c.1731G>T (p.Val577=) | |
| 16 | g.56884114G>A | CA395990598 | SLC12A3 | c.1735G>A (p.Val579Ile) c.1732G>A (p.Val578Ile) | |
| 16 | g.56884114G>C | CA395990587 | SLC12A3 | c.1735G>C (p.Val579Leu) c.1732G>C (p.Val578Leu) | |
| 16 | g.56884114G>T | CA395990589 | SLC12A3 | c.1735G>T (p.Val579Phe) c.1732G>T (p.Val578Phe) | |
| 16 | g.56884115T>A | CA395990599 | SLC12A3 | c.1736T>A (p.Val579Asp) c.1733T>A (p.Val578Asp) | |
| 16 | g.56884115T>C | CA395990601 | SLC12A3 | c.1736T>C (p.Val579Ala) c.1733T>C (p.Val578Ala) | |
| 16 | g.56884115T>G | CA395990603 | SLC12A3 | c.1736T>G (p.Val579Gly) c.1733T>G (p.Val578Gly) | |
| 16 | g.56884119_56884121del | CA2633373135 | SLC12A3 | c.1740_1742del (p.Ile580del) c.1737_1739del (p.Ile579del) | gnomAD v4 |
| 16 | g.56884116C>A | CA495604542 | SLC12A3 | c.1737C>A (p.Val579=) c.1734C>A (p.Val578=) | |
| 16 | g.56884116C>G | CA495604543 | SLC12A3 | c.1737C>G (p.Val579=) c.1734C>G (p.Val578=) | |
| 16 | g.56884116C>T | CA495604544 | SLC12A3 | c.1737C>T (p.Val579=) c.1734C>T (p.Val578=) | |
| 16 | g.56884117A>C | CA395990606 | SLC12A3 | c.1738A>C (p.Ile580Leu) c.1735A>C (p.Ile579Leu) | |
| 16 | g.56884117A>G | CA395990607 | SLC12A3 | c.1738A>G (p.Ile580Val) c.1735A>G (p.Ile579Val) | |
| 16 | g.56884117A>T | CA395990608 | SLC12A3 | c.1738A>T (p.Ile580Phe) c.1735A>T (p.Ile579Phe) | |
| 16 | g.56884118del | CA2633373137 | SLC12A3 | c.1739del (p.Ile580ThrfsTer?) c.1736del (p.Ile579ThrfsTer?) | gnomAD v4 |
| 16 | g.56884118T>A | CA395990609 | SLC12A3 | c.1739T>A (p.Ile580Asn) c.1736T>A (p.Ile579Asn) | |
| 16 | g.56884118T>C | CA395990611 | SLC12A3 | c.1739T>C (p.Ile580Thr) c.1736T>C (p.Ile579Thr) | gnomAD v4 |
| 16 | g.56884118T>G | CA395990613 | SLC12A3 | c.1739T>G (p.Ile580Ser) c.1736T>G (p.Ile579Ser) | |
| 16 | g.56884119del | CA2695223449 | SLC12A3 | c.1740del (p.Met581CysfsTer?) c.1737del (p.Met580CysfsTer?) | |
| 16 | g.56884119C>A | CA495604545 | SLC12A3 | c.1740C>A (p.Ile580=) c.1737C>A (p.Ile579=) | |
| 16 | g.56884119C>G | CA395990615 | SLC12A3 | c.1740C>G (p.Ile580Met) c.1737C>G (p.Ile579Met) | |
| 16 | g.56884119C>T | CA495604546 | SLC12A3 | c.1740C>T (p.Ile580=) c.1737C>T (p.Ile579=) | |
| 16 | g.56884120A>C | CA395990618 | SLC12A3 | c.1741A>C (p.Met581Leu) c.1738A>C (p.Met580Leu) | |
| 16 | g.56884120A>G | CA395990620 | SLC12A3 | c.1741A>G (p.Met581Val) c.1738A>G (p.Met580Val) | gnomAD v4 |
| 16 | g.56884120A>T | CA395990622 | SLC12A3 | c.1741A>T (p.Met581Leu) c.1738A>T (p.Met580Leu) | |
| 16 | g.56884121T>A | CA281504517 | SLC12A3 | c.1742T>A (p.Met581Lys) c.1739T>A (p.Met580Lys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56884121T>C | CA8069593 | SLC12A3 | c.1742T>C (p.Met581Thr) c.1739T>C (p.Met580Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884121T>G | CA395990628 | SLC12A3 | c.1742T>G (p.Met581Arg) c.1739T>G (p.Met580Arg) | |
| 16 | g.56884121T= | CA2224356192 | SLC12A3 | c.1742T= (p.Met581=) c.1739T= (p.Met580=) | |
| 16 | g.56884121_56884122delinsTG | CA2224356193 | SLC12A3 | c.1742_1743delinsTG (p.Met581=) c.1739_1740delinsTG (p.Met580=) | |
| 16 | g.56884122del | CA8069594 | SLC12A3 | c.1743del (p.Met581IlefsTer30) c.1740del (p.Met580IlefsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56884122G>A | CA395990632 | SLC12A3 | c.1743G>A (p.Met581Ile) c.1740G>A (p.Met580Ile) | gnomAD v4 |
| 16 | g.56884122G>C | CA395990634 | SLC12A3 | c.1743G>C (p.Met581Ile) c.1740G>C (p.Met580Ile) | |
| 16 | g.56884122G>T | CA395990635 | SLC12A3 | c.1743G>T (p.Met581Ile) c.1740G>T (p.Met580Ile) | |
| 16 | g.56884123T>A | CA395990639 | SLC12A3 | c.1744T>A (p.Phe582Ile) c.1741T>A (p.Phe581Ile) | |
| 16 | g.56884123T>C | CA395990641 | SLC12A3 | c.1744T>C (p.Phe582Leu) c.1741T>C (p.Phe581Leu) | |
| 16 | g.56884123T>G | CA395990643 | SLC12A3 | c.1744T>G (p.Phe582Val) c.1741T>G (p.Phe581Val) | |
| 16 | g.56884124T>A | CA395990644 | SLC12A3 | c.1745T>A (p.Phe582Tyr) c.1742T>A (p.Phe581Tyr) | |
| 16 | g.56884124T>C | CA395990645 | SLC12A3 | c.1745T>C (p.Phe582Ser) c.1742T>C (p.Phe581Ser) | |
| 16 | g.56884124T>G | CA395990646 | SLC12A3 | c.1745T>G (p.Phe582Cys) c.1742T>G (p.Phe581Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56884124T= | CA2224356194 | SLC12A3 | c.1745T= (p.Phe582=) c.1742T= (p.Phe581=) | |
| 16 | g.56884125C>A | CA395990648 | SLC12A3 | c.1746C>A (p.Phe582Leu) c.1743C>A (p.Phe581Leu) | |
| 16 | g.56884125C>G | CA395990649 | SLC12A3 | c.1746C>G (p.Phe582Leu) c.1743C>G (p.Phe581Leu) | |
| 16 | g.56884125C>T | CA495604547 | SLC12A3 | c.1746C>T (p.Phe582=) c.1743C>T (p.Phe581=) | |
| 16 | g.56884126C>A | CA395990652 | SLC12A3 | c.1747C>A (p.Leu583Ile) c.1744C>A (p.Leu582Ile) | |
| 16 | g.56884126C>G | CA395990651 | SLC12A3 | c.1747C>G (p.Leu583Val) c.1744C>G (p.Leu582Val) | |
| 16 | g.56884126C>T | CA395990650 | SLC12A3 | c.1747C>T (p.Leu583Phe) c.1744C>T (p.Leu582Phe) |