| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56879588_56879593del | CA2633380993 | SLC12A3 | c.1382_1387del (p.Ile461_Gly463delinsArg) c.1379_1384del (p.Ile460_Gly462delinsArg) | gnomAD v4 |
| 16 | g.56879593G>A | CA8069451 | SLC12A3 | c.1387G>A (p.Gly463Arg) c.1384G>A (p.Gly462Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879593G>C | CA395987538 | SLC12A3 | c.1387G>C (p.Gly463Arg) c.1384G>C (p.Gly462Arg) | gnomAD v4 |
| 16 | g.56879593G= | CA2224353963 | SLC12A3 | c.1387G= (p.Gly463=) c.1384G= (p.Gly462=) | |
| 16 | g.56879593G>T | CA395987541 | SLC12A3 | c.1387G>T (p.Gly463Trp) c.1384G>T (p.Gly462Trp) | |
| 16 | g.56879596dup | CA2580091681 | SLC12A3 | c.1390dup (p.Ala464GlyfsTer?) c.1387dup (p.Ala463GlyfsTer?) | ClinVar |
| 16 | g.56879596del | CA2695223435 | SLC12A3 | c.1390del (p.Ala464ProfsTer28) c.1387del (p.Ala463ProfsTer28) | |
| 16 | g.56879594G>A | CA395987546 | SLC12A3 | c.1388G>A (p.Gly463Glu) c.1385G>A (p.Gly462Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879594G>C | CA395987548 | SLC12A3 | c.1388G>C (p.Gly463Ala) c.1385G>C (p.Gly462Ala) | |
| 16 | g.56879594G= | CA2224353964 | SLC12A3 | c.1388G= (p.Gly463=) c.1385G= (p.Gly462=) | |
| 16 | g.56879594G>T | CA395987552 | SLC12A3 | c.1388G>T (p.Gly463Val) c.1385G>T (p.Gly462Val) | |
| 16 | g.56879595G>A | CA281501421 | SLC12A3 | c.1389G>A (p.Gly463=) c.1386G>A (p.Gly462=) | dbSNP |
| 16 | g.56879595G>C | CA495603802 | SLC12A3 | c.1389G>C (p.Gly463=) c.1386G>C (p.Gly462=) | |
| 16 | g.56879595G= | CA2224353965 | SLC12A3 | c.1389G= (p.Gly463=) c.1386G= (p.Gly462=) | |
| 16 | g.56879595G>T | CA495603803 | SLC12A3 | c.1389G>T (p.Gly463=) c.1386G>T (p.Gly462=) | |
| 16 | g.56879596G>A | CA8069452 | SLC12A3 | c.1390G>A (p.Ala464Thr) c.1387G>A (p.Ala463Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879596G>C | CA395987562 | SLC12A3 | c.1390G>C (p.Ala464Pro) c.1387G>C (p.Ala463Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879596G= | CA2224353966 | SLC12A3 | c.1390G= (p.Ala464=) c.1387G= (p.Ala463=) | |
| 16 | g.56879596G>T | CA395987559 | SLC12A3 | c.1390G>T (p.Ala464Ser) c.1387G>T (p.Ala463Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879597C>A | CA395987564 | SLC12A3 | c.1391C>A (p.Ala464Asp) c.1388C>A (p.Ala463Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879597C= | CA2224353967 | SLC12A3 | c.1391C= (p.Ala464=) c.1388C= (p.Ala463=) | |
| 16 | g.56879597C>G | CA395987570 | SLC12A3 | c.1391C>G (p.Ala464Gly) c.1388C>G (p.Ala463Gly) | |
| 16 | g.56879597C>T | CA395987567 | SLC12A3 | c.1391C>T (p.Ala464Val) c.1388C>T (p.Ala463Val) | |
| 16 | g.56879598C>A | CA8069453 | SLC12A3 | c.1392C>A (p.Ala464=) c.1389C>A (p.Ala463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879598C= | CA2224353968 | SLC12A3 | c.1392C= (p.Ala464=) c.1389C= (p.Ala463=) | |
| 16 | g.56879598C>G | CA495603804 | SLC12A3 | c.1392C>G (p.Ala464=) c.1389C>G (p.Ala463=) | |
| 16 | g.56879598C>T | CA495603805 | SLC12A3 | c.1392C>T (p.Ala464=) c.1389C>T (p.Ala463=) | |
| 16 | g.56879599A= | CA2224353969 | SLC12A3 | c.1393A= (p.Thr465=) c.1390A= (p.Thr464=) | |
| 16 | g.56879599A>C | CA395987577 | SLC12A3 | c.1393A>C (p.Thr465Pro) c.1390A>C (p.Thr464Pro) | dbSNP |
| 16 | g.56879599A>G | CA395987574 | SLC12A3 | c.1393A>G (p.Thr465Ala) c.1390A>G (p.Thr464Ala) | |
| 16 | g.56879599A>T | CA395987575 | SLC12A3 | c.1393A>T (p.Thr465Ser) c.1390A>T (p.Thr464Ser) | |
| 16 | g.56879600C>A | CA8069454 | SLC12A3 | c.1394C>A (p.Thr465Asn) c.1391C>A (p.Thr464Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879600C= | CA2224353970 | SLC12A3 | c.1394C= (p.Thr465=) c.1391C= (p.Thr464=) | |
| 16 | g.56879600C>G | CA395987580 | SLC12A3 | c.1394C>G (p.Thr465Ser) c.1391C>G (p.Thr464Ser) | gnomAD v4 |
| 16 | g.56879600C>T | CA395987583 | SLC12A3 | c.1394C>T (p.Thr465Ile) c.1391C>T (p.Thr464Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879601_56879602del | CA2633381048 | SLC12A3 | c.1395_1396del (p.Ser467LeufsTer?) c.1392_1393del (p.Ser466LeufsTer?) | gnomAD v4 |
| 16 | g.56879601C>A | CA8069456 | SLC12A3 | c.1395C>A (p.Thr465=) c.1392C>A (p.Thr464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879601C= | CA2224353971 | SLC12A3 | c.1395C= (p.Thr465=) c.1392C= (p.Thr464=) | |
| 16 | g.56879601C>G | CA281501434 | SLC12A3 | c.1395C>G (p.Thr465=) c.1392C>G (p.Thr464=) | dbSNP gnomAD v4 |
| 16 | g.56879601C>T | CA8069455 | SLC12A3 | c.1395C>T (p.Thr465=) c.1392C>T (p.Thr464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879602C>A | CA395987589 | SLC12A3 | c.1396C>A (p.Leu466Ile) c.1393C>A (p.Leu465Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56879602C= | CA2224353972 | SLC12A3 | c.1396C= (p.Leu466=) c.1393C= (p.Leu465=) | |
| 16 | g.56879602C>G | CA281501440 | SLC12A3 | c.1396C>G (p.Leu466Val) c.1393C>G (p.Leu465Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879602C>T | CA395987593 | SLC12A3 | c.1396C>T (p.Leu466Phe) c.1393C>T (p.Leu465Phe) | gnomAD v4 |
| 16 | g.56879603T>A | CA395987597 | SLC12A3 | c.1397T>A (p.Leu466His) c.1394T>A (p.Leu465His) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879603T>C | CA395987600 | SLC12A3 | c.1397T>C (p.Leu466Pro) c.1394T>C (p.Leu465Pro) | |
| 16 | g.56879603T>G | CA395987603 | SLC12A3 | c.1397T>G (p.Leu466Arg) c.1394T>G (p.Leu465Arg) | |
| 16 | g.56879603T= | CA2224353973 | SLC12A3 | c.1397T= (p.Leu466=) c.1394T= (p.Leu465=) | |
| 16 | g.56879604C>A | CA495603806 | SLC12A3 | c.1398C>A (p.Leu466=) c.1395C>A (p.Leu465=) | |
| 16 | g.56879604C= | CA2224353974 | SLC12A3 | c.1398C= (p.Leu466=) c.1395C= (p.Leu465=) |