| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.36114157G>A | CA8939018 | SLC39A6 | c.1783C>T (p.Leu595=) c.958C>T (p.Leu320=) c.484C>T (p.Leu162=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.36114157G>C | CA402204929 | SLC39A6 | c.1783C>G (p.Leu595Val) c.958C>G (p.Leu320Val) c.484C>G (p.Leu162Val) | |
| 18 | g.36114157G= | CA2295937412 | SLC39A6 | c.1783C= (p.Leu595=) c.958C= (p.Leu320=) c.484C= (p.Leu162=) | |
| 18 | g.36114157G>T | CA402204930 | SLC39A6 | c.1783C>A (p.Leu595Met) c.958C>A (p.Leu320Met) c.484C>A (p.Leu162Met) | |
| 18 | g.36114158A= | CA2295937413 | SLC39A6 | c.1782T= (p.Thr594=) c.957T= (p.Thr319=) c.483T= (p.Thr161=) | |
| 18 | g.36114158A>C | CA503640305 | SLC39A6 | c.1782T>G (p.Thr594=) c.957T>G (p.Thr319=) c.483T>G (p.Thr161=) | |
| 18 | g.36114158A>G | CA503640307 | SLC39A6 | c.1782T>C (p.Thr594=) c.957T>C (p.Thr319=) c.483T>C (p.Thr161=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.36114158A>T | CA503640308 | SLC39A6 | c.1782T>A (p.Thr594=) c.957T>A (p.Thr319=) c.483T>A (p.Thr161=) | |
| 18 | g.36114159G>A | CA402204934 | SLC39A6 | c.1781C>T (p.Thr594Ile) c.956C>T (p.Thr319Ile) c.482C>T (p.Thr161Ile) | |
| 18 | g.36114159G>C | CA402204935 | SLC39A6 | c.1781C>G (p.Thr594Ser) c.956C>G (p.Thr319Ser) c.482C>G (p.Thr161Ser) | dbSNP |
| 18 | g.36114159G= | CA2295937414 | SLC39A6 | c.1781C= (p.Thr594=) c.956C= (p.Thr319=) c.482C= (p.Thr161=) | |
| 18 | g.36114159G>T | CA402204932 | SLC39A6 | c.1781C>A (p.Thr594Asn) c.956C>A (p.Thr319Asn) c.482C>A (p.Thr161Asn) | |
| 18 | g.36114160T>A | CA298700922 | SLC39A6 | c.1780A>T (p.Thr594Ser) c.955A>T (p.Thr319Ser) c.481A>T (p.Thr161Ser) | dbSNP gnomAD v4 |
| 18 | g.36114160T>C | CA8939019 | SLC39A6 | c.1780A>G (p.Thr594Ala) c.955A>G (p.Thr319Ala) c.481A>G (p.Thr161Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.36114160T>G | CA402204938 | SLC39A6 | c.1780A>C (p.Thr594Pro) c.955A>C (p.Thr319Pro) c.481A>C (p.Thr161Pro) | |
| 18 | g.36114160T= | CA2295937415 | SLC39A6 | c.1780A= (p.Thr594=) c.955A= (p.Thr319=) c.481A= (p.Thr161=) | |
| 18 | g.36114161G>A | CA298700925 | SLC39A6 | c.1779C>T (p.Ala593=) c.954C>T (p.Ala318=) c.480C>T (p.Ala160=) | dbSNP gnomAD v4 |
| 18 | g.36114161G>C | CA503640316 | SLC39A6 | c.1779C>G (p.Ala593=) c.954C>G (p.Ala318=) c.480C>G (p.Ala160=) | gnomAD v4 |
| 18 | g.36114161G= | CA2295937416 | SLC39A6 | c.1779C= (p.Ala593=) c.954C= (p.Ala318=) c.480C= (p.Ala160=) | |
| 18 | g.36114161G>T | CA503640318 | SLC39A6 | c.1779C>A (p.Ala593=) c.954C>A (p.Ala318=) c.480C>A (p.Ala160=) | |
| 18 | g.36114162G>A | CA402204939 | SLC39A6 | c.1778C>T (p.Ala593Val) c.953C>T (p.Ala318Val) c.479C>T (p.Ala160Val) | |
| 18 | g.36114162G>C | CA402204941 | SLC39A6 | c.1778C>G (p.Ala593Gly) c.953C>G (p.Ala318Gly) c.479C>G (p.Ala160Gly) | |
| 18 | g.36114162G>T | CA402204942 | SLC39A6 | c.1778C>A (p.Ala593Asp) c.953C>A (p.Ala318Asp) c.479C>A (p.Ala160Asp) | |
| 18 | g.36114163C>A | CA402204944 | SLC39A6 | c.1777G>T (p.Ala593Ser) c.952G>T (p.Ala318Ser) c.478G>T (p.Ala160Ser) | |
| 18 | g.36114163C= | CA2295937417 | SLC39A6 | c.1777G= (p.Ala593=) c.952G= (p.Ala318=) c.478G= (p.Ala160=) | |
| 18 | g.36114163C>G | CA402204946 | SLC39A6 | c.1777G>C (p.Ala593Pro) c.952G>C (p.Ala318Pro) c.478G>C (p.Ala160Pro) | |
| 18 | g.36114163C>T | CA8939020 | SLC39A6 | c.1777G>A (p.Ala593Thr) c.952G>A (p.Ala318Thr) c.478G>A (p.Ala160Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.36114164G>A | CA8939021 | SLC39A6 | c.1776C>T (p.Val592=) c.951C>T (p.Val317=) c.477C>T (p.Val159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.36114164G>C | CA503640322 | SLC39A6 | c.1776C>G (p.Val592=) c.951C>G (p.Val317=) c.477C>G (p.Val159=) | |
| 18 | g.36114164G= | CA2295937418 | SLC39A6 | c.1776C= (p.Val592=) c.951C= (p.Val317=) c.477C= (p.Val159=) | |
| 18 | g.36114164G>T | CA503640324 | SLC39A6 | c.1776C>A (p.Val592=) c.951C>A (p.Val317=) c.477C>A (p.Val159=) | |
| 18 | g.36114165A>C | CA402204947 | SLC39A6 | c.1775T>G (p.Val592Gly) c.950T>G (p.Val317Gly) c.476T>G (p.Val159Gly) | |
| 18 | g.36114165A>G | CA402204949 | SLC39A6 | c.1775T>C (p.Val592Ala) c.950T>C (p.Val317Ala) c.476T>C (p.Val159Ala) | |
| 18 | g.36114165A>T | CA402204950 | SLC39A6 | c.1775T>A (p.Val592Asp) c.950T>A (p.Val317Asp) c.476T>A (p.Val159Asp) | |
| 18 | g.36114166C>A | CA402204954 | SLC39A6 | c.1774G>T (p.Val592Phe) c.949G>T (p.Val317Phe) c.475G>T (p.Val159Phe) | |
| 18 | g.36114166C= | CA2295937419 | SLC39A6 | c.1774G= (p.Val592=) c.949G= (p.Val317=) c.475G= (p.Val159=) | |
| 18 | g.36114166C>G | CA402204952 | SLC39A6 | c.1774G>C (p.Val592Leu) c.949G>C (p.Val317Leu) c.475G>C (p.Val159Leu) | |
| 18 | g.36114166C>T | CA8939022 | SLC39A6 | c.1774G>A (p.Val592Ile) c.949G>A (p.Val317Ile) c.475G>A (p.Val159Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.36114167G>A | CA503640334 | SLC39A6 | c.1773C>T (p.Gly591=) c.948C>T (p.Gly316=) c.474C>T (p.Gly158=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.36114167G>C | CA503640332 | SLC39A6 | c.1773C>G (p.Gly591=) c.948C>G (p.Gly316=) c.474C>G (p.Gly158=) | |
| 18 | g.36114167G= | CA2295937420 | SLC39A6 | c.1773C= (p.Gly591=) c.948C= (p.Gly316=) c.474C= (p.Gly158=) | |
| 18 | g.36114167G>T | CA503640330 | SLC39A6 | c.1773C>A (p.Gly591=) c.948C>A (p.Gly316=) c.474C>A (p.Gly158=) | |
| 18 | g.36114168C>A | CA402204956 | SLC39A6 | c.1772G>T (p.Gly591Val) c.947G>T (p.Gly316Val) c.473G>T (p.Gly158Val) | dbSNP gnomAD v2 |
| 18 | g.36114168C= | CA2295937421 | SLC39A6 | c.1772G= (p.Gly591=) c.947G= (p.Gly316=) c.473G= (p.Gly158=) | |
| 18 | g.36114168C>G | CA402204958 | SLC39A6 | c.1772G>C (p.Gly591Ala) c.947G>C (p.Gly316Ala) c.473G>C (p.Gly158Ala) | |
| 18 | g.36114168C>T | CA298700970 | SLC39A6 | c.1772G>A (p.Gly591Asp) c.947G>A (p.Gly316Asp) c.473G>A (p.Gly158Asp) | dbSNP gnomAD v4 |
| 18 | g.36114169C>A | CA402204959 | SLC39A6 | c.1771G>T (p.Gly591Cys) c.946G>T (p.Gly316Cys) c.472G>T (p.Gly158Cys) | |
| 18 | g.36114169C= | CA2295937422 | SLC39A6 | c.1771G= (p.Gly591=) c.946G= (p.Gly316=) c.472G= (p.Gly158=) | |
| 18 | g.36114169C>G | CA402204961 | SLC39A6 | c.1771G>C (p.Gly591Arg) c.946G>C (p.Gly316Arg) c.472G>C (p.Gly158Arg) | |
| 18 | g.36114169C>T | CA8939023 | SLC39A6 | c.1771G>A (p.Gly591Ser) c.946G>A (p.Gly316Ser) c.472G>A (p.Gly158Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |