Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56904395T>A | CA396002172 | SLC12A3 | c.2857T>A (p.Ser953Thr) c.2854T>A (p.Ser952Thr) c.2884T>A (p.Ser962Thr) c.2881T>A (p.Ser961Thr) n.288T>A | |
16 | g.56904395T>C | CA396002178 | SLC12A3 | c.2857T>C (p.Ser953Pro) c.2854T>C (p.Ser952Pro) c.2884T>C (p.Ser962Pro) c.2881T>C (p.Ser961Pro) n.288T>C | |
16 | g.56904395T>G | CA396002175 | SLC12A3 | c.2857T>G (p.Ser953Ala) c.2854T>G (p.Ser952Ala) c.2884T>G (p.Ser962Ala) c.2881T>G (p.Ser961Ala) n.288T>G | |
16 | g.56904396C>A | CA396002184 | SLC12A3 | c.2858C>A (p.Ser953Tyr) c.2855C>A (p.Ser952Tyr) c.2885C>A (p.Ser962Tyr) c.2882C>A (p.Ser961Tyr) n.289C>A | gnomAD v4 |
16 | g.56904396C>G | CA396002190 | SLC12A3 | c.2858C>G (p.Ser953Cys) c.2855C>G (p.Ser952Cys) c.2885C>G (p.Ser962Cys) c.2882C>G (p.Ser961Cys) n.289C>G | |
16 | g.56904396C>T | CA396002194 | SLC12A3 | c.2858C>T (p.Ser953Phe) c.2855C>T (p.Ser952Phe) c.2885C>T (p.Ser962Phe) c.2882C>T (p.Ser961Phe) n.289C>T | |
16 | g.56904397C>A | CA495613544 | SLC12A3 | c.2859C>A (p.Ser953=) c.2856C>A (p.Ser952=) c.2886C>A (p.Ser962=) c.2883C>A (p.Ser961=) n.290C>A | |
16 | g.56904397C= | CA2224365725 | SLC12A3 | c.2859C= (p.Ser953=) c.2856C= (p.Ser952=) c.2886C= (p.Ser962=) c.2883C= (p.Ser961=) n.290C= | |
16 | g.56904397C>G | CA495613545 | SLC12A3 | c.2859C>G (p.Ser953=) c.2856C>G (p.Ser952=) c.2886C>G (p.Ser962=) c.2883C>G (p.Ser961=) n.290C>G | |
16 | g.56904397C>T | CA8070130 | SLC12A3 | c.2859C>T (p.Ser953=) c.2856C>T (p.Ser952=) c.2886C>T (p.Ser962=) c.2883C>T (p.Ser961=) n.290C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904398C>A | CA396002203 | SLC12A3 | c.2860C>A (p.Leu954Ile) c.2857C>A (p.Leu953Ile) c.2887C>A (p.Leu963Ile) c.2884C>A (p.Leu962Ile) n.291C>A | |
16 | g.56904398C>G | CA396002211 | SLC12A3 | c.2860C>G (p.Leu954Val) c.2857C>G (p.Leu953Val) c.2887C>G (p.Leu963Val) c.2884C>G (p.Leu962Val) n.291C>G | |
16 | g.56904398C>T | CA396002207 | SLC12A3 | c.2860C>T (p.Leu954Phe) c.2857C>T (p.Leu953Phe) c.2887C>T (p.Leu963Phe) c.2884C>T (p.Leu962Phe) n.291C>T | |
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= |