| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56904399T>A | CA396002217 | SLC12A3 | c.2861T>A (p.Leu954His) c.2858T>A (p.Leu953His) c.2888T>A (p.Leu963His) c.2885T>A (p.Leu962His) n.292T>A | |
| 16 | g.56904399T>C | CA396002219 | SLC12A3 | c.2861T>C (p.Leu954Pro) c.2858T>C (p.Leu953Pro) c.2888T>C (p.Leu963Pro) c.2885T>C (p.Leu962Pro) n.292T>C | |
| 16 | g.56904399T>G | CA396002223 | SLC12A3 | c.2861T>G (p.Leu954Arg) c.2858T>G (p.Leu953Arg) c.2888T>G (p.Leu963Arg) c.2885T>G (p.Leu962Arg) n.292T>G | |
| 16 | g.56904400T>A | CA495613548 | SLC12A3 | c.2862T>A (p.Leu954=) c.2859T>A (p.Leu953=) c.2889T>A (p.Leu963=) c.2886T>A (p.Leu962=) n.293T>A | |
| 16 | g.56904400T>C | CA495613547 | SLC12A3 | c.2862T>C (p.Leu954=) c.2859T>C (p.Leu953=) c.2889T>C (p.Leu963=) c.2886T>C (p.Leu962=) n.293T>C | |
| 16 | g.56904400T>G | CA495613546 | SLC12A3 | c.2862T>G (p.Leu954=) c.2859T>G (p.Leu953=) c.2889T>G (p.Leu963=) c.2886T>G (p.Leu962=) n.293T>G | |
| 16 | g.56904401C>A | CA495613549 | SLC12A3 | c.2863C>A (p.Arg955=) c.2860C>A (p.Arg954=) c.2890C>A (p.Arg964=) c.2887C>A (p.Arg963=) n.294C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56904401C= | CA2224365726 | SLC12A3 | c.2863C= (p.Arg955=) c.2860C= (p.Arg954=) c.2890C= (p.Arg964=) c.2887C= (p.Arg963=) n.294C= | |
| 16 | g.56904401C>G | CA396002228 | SLC12A3 | c.2863C>G (p.Arg955Gly) c.2860C>G (p.Arg954Gly) c.2890C>G (p.Arg964Gly) c.2887C>G (p.Arg963Gly) n.294C>G | |
| 16 | g.56904401C>T | CA8070131 | SLC12A3 | c.2863C>T (p.Arg955Trp) c.2860C>T (p.Arg954Trp) c.2890C>T (p.Arg964Trp) c.2887C>T (p.Arg963Trp) n.294C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56904402G>A | CA8070132 | SLC12A3 | c.2864G>A (p.Arg955Gln) c.2861G>A (p.Arg954Gln) c.2891G>A (p.Arg964Gln) c.2888G>A (p.Arg963Gln) n.295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56904402G>C | CA396002234 | SLC12A3 | c.2864G>C (p.Arg955Pro) c.2861G>C (p.Arg954Pro) c.2891G>C (p.Arg964Pro) c.2888G>C (p.Arg963Pro) n.295G>C | ClinVar |
| 16 | g.56904402G= | CA2224365727 | SLC12A3 | c.2864G= (p.Arg955=) c.2861G= (p.Arg954=) c.2891G= (p.Arg964=) c.2888G= (p.Arg963=) n.295G= | |
| 16 | g.56904402G>T | CA396002236 | SLC12A3 | c.2864G>T (p.Arg955Leu) c.2861G>T (p.Arg954Leu) c.2891G>T (p.Arg964Leu) c.2888G>T (p.Arg963Leu) n.295G>T | |
| 16 | g.56904404_56904407dup | CA2633380547 | SLC12A3 | c.2866_2869dup (p.Val957AlafsTer6) c.2863_2866dup (p.Val956AlafsTer6) c.2893_2896dup (p.Val966AlafsTer6) c.2890_2893dup (p.Val965AlafsTer6) n.297_300dup | gnomAD v4 |
| 16 | g.56904403G>A | CA495613550 | SLC12A3 | c.2865G>A (p.Arg955=) c.2862G>A (p.Arg954=) c.2892G>A (p.Arg964=) c.2889G>A (p.Arg963=) n.296G>A | |
| 16 | g.56904403G>C | CA495613551 | SLC12A3 | c.2865G>C (p.Arg955=) c.2862G>C (p.Arg954=) c.2892G>C (p.Arg964=) c.2889G>C (p.Arg963=) n.296G>C | |
| 16 | g.56904403G>T | CA495613552 | SLC12A3 | c.2865G>T (p.Arg955=) c.2862G>T (p.Arg954=) c.2892G>T (p.Arg964=) c.2889G>T (p.Arg963=) n.296G>T | dbSNP |
| 16 | g.56904404C>A | CA396002240 | SLC12A3 | c.2866C>A (p.Gln956Lys) c.2863C>A (p.Gln955Lys) c.2893C>A (p.Gln965Lys) c.2890C>A (p.Gln964Lys) n.297C>A | |
| 16 | g.56904404C= | CA2224365728 | SLC12A3 | c.2866C= (p.Gln956=) c.2863C= (p.Gln955=) c.2893C= (p.Gln965=) c.2890C= (p.Gln964=) n.297C= | |
| 16 | g.56904404C>G | CA396002241 | SLC12A3 | c.2866C>G (p.Gln956Glu) c.2863C>G (p.Gln955Glu) c.2893C>G (p.Gln965Glu) c.2890C>G (p.Gln964Glu) n.297C>G | ClinVar |
| 16 | g.56904404C>T | CA8070133 | SLC12A3 | c.2866C>T (p.Gln956Ter) c.2863C>T (p.Gln955Ter) c.2893C>T (p.Gln965Ter) c.2890C>T (p.Gln964Ter) n.297C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56904405A= | CA2224365729 | SLC12A3 | c.2867A= (p.Gln956=) c.2864A= (p.Gln955=) c.2894A= (p.Gln965=) c.2891A= (p.Gln964=) n.298A= | |
| 16 | g.56904405A>C | CA281521274 | SLC12A3 | c.2867A>C (p.Gln956Pro) c.2864A>C (p.Gln955Pro) c.2894A>C (p.Gln965Pro) c.2891A>C (p.Gln964Pro) n.298A>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56904405A>G | CA396002262 | SLC12A3 | c.2867A>G (p.Gln956Arg) c.2864A>G (p.Gln955Arg) c.2894A>G (p.Gln965Arg) c.2891A>G (p.Gln964Arg) n.298A>G | gnomAD v4 COSMIC |
| 16 | g.56904405A>T | CA396002259 | SLC12A3 | c.2867A>T (p.Gln956Leu) c.2864A>T (p.Gln955Leu) c.2894A>T (p.Gln965Leu) c.2891A>T (p.Gln964Leu) n.298A>T | |
| 16 | g.56904406G>A | CA495613553 | SLC12A3 | c.2868G>A (p.Gln956=) c.2865G>A (p.Gln955=) c.2895G>A (p.Gln965=) c.2892G>A (p.Gln964=) n.299G>A | |
| 16 | g.56904406G>C | CA396002265 | SLC12A3 | c.2868G>C (p.Gln956His) c.2865G>C (p.Gln955His) c.2895G>C (p.Gln965His) c.2892G>C (p.Gln964His) n.299G>C | |
| 16 | g.56904406G>T | CA396002267 | SLC12A3 | c.2868G>T (p.Gln956His) c.2865G>T (p.Gln955His) c.2895G>T (p.Gln965His) c.2892G>T (p.Gln964His) n.299G>T | |
| 16 | g.56904407G>A | CA396002268 | SLC12A3 | c.2869G>A (p.Val957Met) c.2866G>A (p.Val956Met) c.2896G>A (p.Val966Met) c.2893G>A (p.Val965Met) n.300G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56904407G>C | CA396002269 | SLC12A3 | c.2869G>C (p.Val957Leu) c.2866G>C (p.Val956Leu) c.2896G>C (p.Val966Leu) c.2893G>C (p.Val965Leu) n.300G>C | |
| 16 | g.56904407G= | CA2224365730 | SLC12A3 | c.2869G= (p.Val957=) c.2866G= (p.Val956=) c.2896G= (p.Val966=) c.2893G= (p.Val965=) n.300G= | |
| 16 | g.56904407G>T | CA396002270 | SLC12A3 | c.2869G>T (p.Val957Leu) c.2866G>T (p.Val956Leu) c.2896G>T (p.Val966Leu) c.2893G>T (p.Val965Leu) n.300G>T | |
| 16 | g.56904408T>A | CA396002272 | SLC12A3 | c.2870T>A (p.Val957Glu) c.2867T>A (p.Val956Glu) c.2897T>A (p.Val966Glu) c.2894T>A (p.Val965Glu) n.301T>A | |
| 16 | g.56904408T>C | CA396002275 | SLC12A3 | c.2870T>C (p.Val957Ala) c.2867T>C (p.Val956Ala) c.2897T>C (p.Val966Ala) c.2894T>C (p.Val965Ala) n.301T>C | |
| 16 | g.56904408T>G | CA8070134 | SLC12A3 | c.2870T>G (p.Val957Gly) c.2867T>G (p.Val956Gly) c.2897T>G (p.Val966Gly) c.2894T>G (p.Val965Gly) n.301T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56904408T= | CA2224365731 | SLC12A3 | c.2870T= (p.Val957=) c.2867T= (p.Val956=) c.2897T= (p.Val966=) c.2894T= (p.Val965=) n.301T= | |
| 16 | g.56904409G>A | CA495613554 | SLC12A3 | c.2871G>A (p.Val957=) c.2868G>A (p.Val956=) c.2898G>A (p.Val966=) c.2895G>A (p.Val965=) n.302G>A | gnomAD v4 |
| 16 | g.56904409G>C | CA495613555 | SLC12A3 | c.2871G>C (p.Val957=) c.2868G>C (p.Val956=) c.2898G>C (p.Val966=) c.2895G>C (p.Val965=) n.302G>C | |
| 16 | g.56904409G>T | CA495613556 | SLC12A3 | c.2871G>T (p.Val957=) c.2868G>T (p.Val956=) c.2898G>T (p.Val966=) c.2895G>T (p.Val965=) n.302G>T | |
| 16 | g.56904410A= | CA2224365732 | SLC12A3 | c.2872A= (p.Arg958=) c.2869A= (p.Arg957=) c.2899A= (p.Arg967=) c.2896A= (p.Arg966=) n.303A= | |
| 16 | g.56904410A>C | CA495613557 | SLC12A3 | c.2872A>C (p.Arg958=) c.2869A>C (p.Arg957=) c.2899A>C (p.Arg967=) c.2896A>C (p.Arg966=) n.303A>C | gnomAD v4 |
| 16 | g.56904410A>G | CA8070135 | SLC12A3 | c.2872A>G (p.Arg958Gly) c.2869A>G (p.Arg957Gly) c.2899A>G (p.Arg967Gly) c.2896A>G (p.Arg966Gly) n.303A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56904410A>T | CA396002276 | SLC12A3 | c.2872A>T (p.Arg958Trp) c.2869A>T (p.Arg957Trp) c.2899A>T (p.Arg967Trp) c.2896A>T (p.Arg966Trp) n.303A>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.56904411G>A | CA396002279 | SLC12A3 | c.2873G>A (p.Arg958Lys) c.2870G>A (p.Arg957Lys) c.2900G>A (p.Arg967Lys) c.2897G>A (p.Arg966Lys) n.304G>A | |
| 16 | g.56904411G>C | CA396002280 | SLC12A3 | c.2873G>C (p.Arg958Thr) c.2870G>C (p.Arg957Thr) c.2900G>C (p.Arg967Thr) c.2897G>C (p.Arg966Thr) n.304G>C | |
| 16 | g.56904411G>T | CA396002282 | SLC12A3 | c.2873G>T (p.Arg958Met) c.2870G>T (p.Arg957Met) c.2900G>T (p.Arg967Met) c.2897G>T (p.Arg966Met) n.304G>T | |
| 16 | g.56904412del | CA2633380608 | SLC12A3 | c.2874del (p.Arg958SerfsTer2) c.2871del (p.Arg957SerfsTer2) c.2901del (p.Arg967SerfsTer2) c.2898del (p.Arg966SerfsTer2) n.305del | ClinVar gnomAD v4 |
| 16 | g.56904412G>A | CA495613558 | SLC12A3 | c.2874G>A (p.Arg958=) c.2871G>A (p.Arg957=) c.2901G>A (p.Arg967=) c.2898G>A (p.Arg966=) n.305G>A | |
| 16 | g.56904412G>C | CA396002285 | SLC12A3 | c.2874G>C (p.Arg958Ser) c.2871G>C (p.Arg957Ser) c.2901G>C (p.Arg967Ser) c.2898G>C (p.Arg966Ser) n.305G>C |