Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56902427G>A | CA495613320 | SLC12A3 | c.2775G>A (p.Lys925=) c.2772G>A (p.Lys924=) c.2802G>A (p.Lys934=) c.2799G>A (p.Lys933=) n.206G>A | |
16 | g.56902427G>C | CA396001253 | SLC12A3 | c.2775G>C (p.Lys925Asn) c.2772G>C (p.Lys924Asn) c.2802G>C (p.Lys934Asn) c.2799G>C (p.Lys933Asn) n.206G>C | |
16 | g.56902427G>T | CA396001254 | SLC12A3 | c.2775G>T (p.Lys925Asn) c.2772G>T (p.Lys924Asn) c.2802G>T (p.Lys934Asn) c.2799G>T (p.Lys933Asn) n.206G>T | |
16 | g.56902428G>A | CA396001255 | SLC12A3 | c.2776G>A (p.Asp926Asn) c.2773G>A (p.Asp925Asn) c.2803G>A (p.Asp935Asn) c.2800G>A (p.Asp934Asn) n.207G>A | dbSNP |
16 | g.56902428G>C | CA396001258 | SLC12A3 | c.2776G>C (p.Asp926His) c.2773G>C (p.Asp925His) c.2803G>C (p.Asp935His) c.2800G>C (p.Asp934His) n.207G>C | dbSNP |
16 | g.56902428G= | CA2224364817 | SLC12A3 | c.2776G= (p.Asp926=) c.2773G= (p.Asp925=) c.2803G= (p.Asp935=) c.2800G= (p.Asp934=) n.207G= | |
16 | g.56902428G>T | CA396001260 | SLC12A3 | c.2776G>T (p.Asp926Tyr) c.2773G>T (p.Asp925Tyr) c.2803G>T (p.Asp935Tyr) c.2800G>T (p.Asp934Tyr) n.207G>T | |
16 | g.56902429A>C | CA396001261 | SLC12A3 | c.2777A>C (p.Asp926Ala) c.2774A>C (p.Asp925Ala) c.2804A>C (p.Asp935Ala) c.2801A>C (p.Asp934Ala) n.208A>C | |
16 | g.56902429A>G | CA396001262 | SLC12A3 | c.2777A>G (p.Asp926Gly) c.2774A>G (p.Asp925Gly) c.2804A>G (p.Asp935Gly) c.2801A>G (p.Asp934Gly) n.208A>G | |
16 | g.56902429A>T | CA396001264 | SLC12A3 | c.2777A>T (p.Asp926Val) c.2774A>T (p.Asp925Val) c.2804A>T (p.Asp935Val) c.2801A>T (p.Asp934Val) n.208A>T | |
16 | g.56902430T>A | CA396001266 | SLC12A3 | c.2778T>A (p.Asp926Glu) c.2775T>A (p.Asp925Glu) c.2805T>A (p.Asp935Glu) c.2802T>A (p.Asp934Glu) n.209T>A | |
16 | g.56902430T>C | CA495613324 | SLC12A3 | c.2778T>C (p.Asp926=) c.2775T>C (p.Asp925=) c.2805T>C (p.Asp935=) c.2802T>C (p.Asp934=) n.209T>C | |
16 | g.56902430T>G | CA396001268 | SLC12A3 | c.2778T>G (p.Asp926Glu) c.2775T>G (p.Asp925Glu) c.2805T>G (p.Asp935Glu) c.2802T>G (p.Asp934Glu) n.209T>G | |
16 | g.56902431G>A | CA396001271 | SLC12A3 | c.2779G>A (p.Glu927Lys) c.2776G>A (p.Glu926Lys) c.2806G>A (p.Glu936Lys) c.2803G>A (p.Glu935Lys) n.210G>A | |
16 | g.56902431G>C | CA396001272 | SLC12A3 | c.2779G>C (p.Glu927Gln) c.2776G>C (p.Glu926Gln) c.2806G>C (p.Glu936Gln) c.2803G>C (p.Glu935Gln) n.210G>C | |
16 | g.56902431G>T | CA396001273 | SLC12A3 | c.2779G>T (p.Glu927Ter) c.2776G>T (p.Glu926Ter) c.2806G>T (p.Glu936Ter) c.2803G>T (p.Glu935Ter) n.210G>T | |
16 | g.56902432A>C | CA396001279 | SLC12A3 | c.2780A>C (p.Glu927Ala) c.2777A>C (p.Glu926Ala) c.2807A>C (p.Glu936Ala) c.2804A>C (p.Glu935Ala) n.211A>C | |
16 | g.56902432A>G | CA396001278 | SLC12A3 | c.2780A>G (p.Glu927Gly) c.2777A>G (p.Glu926Gly) c.2807A>G (p.Glu936Gly) c.2804A>G (p.Glu935Gly) n.211A>G | |
16 | g.56902432A>T | CA396001276 | SLC12A3 | c.2780A>T (p.Glu927Val) c.2777A>T (p.Glu926Val) c.2807A>T (p.Glu936Val) c.2804A>T (p.Glu935Val) n.211A>T | |
16 | g.56902432_56902435dup | CA2695223515 | SLC12A3 | c.2780_2783dup (p.Thr929GlyfsTer17) c.2777_2780dup (p.Thr928GlyfsTer17) c.2807_2810dup (p.Thr938GlyfsTer17) c.2804_2807dup (p.Thr937GlyfsTer17) n.211_214dup | |
16 | g.56902433G>A | CA495613325 | SLC12A3 | c.2781G>A (p.Glu927=) c.2778G>A (p.Glu926=) c.2808G>A (p.Glu936=) c.2805G>A (p.Glu935=) n.212G>A | ClinVar dbSNP gnomAD v4 |
16 | g.56902433G>C | CA396001283 | SLC12A3 | c.2781G>C (p.Glu927Asp) c.2778G>C (p.Glu926Asp) c.2808G>C (p.Glu936Asp) c.2805G>C (p.Glu935Asp) n.212G>C | |
16 | g.56902433G>T | CA396001281 | SLC12A3 | c.2781G>T (p.Glu927Asp) c.2778G>T (p.Glu926Asp) c.2808G>T (p.Glu936Asp) c.2805G>T (p.Glu935Asp) n.212G>T | |
16 | g.56902434G>A | CA396001287 | SLC12A3 | c.2782G>A (p.Ala928Thr) c.2779G>A (p.Ala927Thr) c.2809G>A (p.Ala937Thr) c.2806G>A (p.Ala936Thr) n.213G>A | dbSNP gnomAD v2 |
16 | g.56902434G>C | CA396001284 | SLC12A3 | c.2782G>C (p.Ala928Pro) c.2779G>C (p.Ala927Pro) c.2809G>C (p.Ala937Pro) c.2806G>C (p.Ala936Pro) n.213G>C | |
16 | g.56902434G= | CA2224364818 | SLC12A3 | c.2782G= (p.Ala928=) c.2779G= (p.Ala927=) c.2809G= (p.Ala937=) c.2806G= (p.Ala936=) n.213G= | |
16 | g.56902434G>T | CA396001285 | SLC12A3 | c.2782G>T (p.Ala928Ser) c.2779G>T (p.Ala927Ser) c.2809G>T (p.Ala937Ser) c.2806G>T (p.Ala936Ser) n.213G>T | |
16 | g.56902435C>A | CA396001288 | SLC12A3 | c.2783C>A (p.Ala928Asp) c.2780C>A (p.Ala927Asp) c.2810C>A (p.Ala937Asp) c.2807C>A (p.Ala936Asp) n.214C>A | |
16 | g.56902435C= | CA2224364819 | SLC12A3 | c.2783C= (p.Ala928=) c.2780C= (p.Ala927=) c.2810C= (p.Ala937=) c.2807C= (p.Ala936=) n.214C= | |
16 | g.56902435C>G | CA396001289 | SLC12A3 | c.2783C>G (p.Ala928Gly) c.2780C>G (p.Ala927Gly) c.2810C>G (p.Ala937Gly) c.2807C>G (p.Ala936Gly) n.214C>G | |
16 | g.56902435C>T | CA396001292 | SLC12A3 | c.2783C>T (p.Ala928Val) c.2780C>T (p.Ala927Val) c.2810C>T (p.Ala937Val) c.2807C>T (p.Ala936Val) n.214C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902436C>A | CA495613326 | SLC12A3 | c.2784C>A (p.Ala928=) c.2781C>A (p.Ala927=) c.2811C>A (p.Ala937=) c.2808C>A (p.Ala936=) n.215C>A | |
16 | g.56902436C= | CA2224364820 | SLC12A3 | c.2784C= (p.Ala928=) c.2781C= (p.Ala927=) c.2811C= (p.Ala937=) c.2808C= (p.Ala936=) n.215C= | |
16 | g.56902436C>G | CA495613328 | SLC12A3 | c.2784C>G (p.Ala928=) c.2781C>G (p.Ala927=) c.2811C>G (p.Ala937=) c.2808C>G (p.Ala936=) n.215C>G | dbSNP |
16 | g.56902436C>T | CA495613327 | SLC12A3 | c.2784C>T (p.Ala928=) c.2781C>T (p.Ala927=) c.2811C>T (p.Ala937=) c.2808C>T (p.Ala936=) n.215C>T | ClinVar dbSNP gnomAD v4 |
16 | g.56902437A>C | CA396001294 | SLC12A3 | c.2785A>C (p.Thr929Pro) c.2782A>C (p.Thr928Pro) c.2812A>C (p.Thr938Pro) c.2809A>C (p.Thr937Pro) n.216A>C | |
16 | g.56902437A>G | CA396001296 | SLC12A3 | c.2785A>G (p.Thr929Ala) c.2782A>G (p.Thr928Ala) c.2812A>G (p.Thr938Ala) c.2809A>G (p.Thr937Ala) n.216A>G | |
16 | g.56902437A>T | CA396001297 | SLC12A3 | c.2785A>T (p.Thr929Ser) c.2782A>T (p.Thr928Ser) c.2812A>T (p.Thr938Ser) c.2809A>T (p.Thr937Ser) n.216A>T | gnomAD v4 |
16 | g.56902438C>A | CA396001300 | SLC12A3 | c.2786C>A (p.Thr929Asn) c.2783C>A (p.Thr928Asn) c.2813C>A (p.Thr938Asn) c.2810C>A (p.Thr937Asn) n.217C>A | |
16 | g.56902438C>G | CA396001302 | SLC12A3 | c.2786C>G (p.Thr929Ser) c.2783C>G (p.Thr928Ser) c.2813C>G (p.Thr938Ser) c.2810C>G (p.Thr937Ser) n.217C>G | |
16 | g.56902438C>T | CA396001303 | SLC12A3 | c.2786C>T (p.Thr929Ile) c.2783C>T (p.Thr928Ile) c.2813C>T (p.Thr938Ile) c.2810C>T (p.Thr937Ile) n.217C>T | |
16 | g.56902438dup | CA2843084632 | SLC12A3 | c.2786dup (p.Val930CysfsTer15) c.2783dup (p.Val929CysfsTer15) c.2813dup (p.Val939CysfsTer15) c.2810dup (p.Val938CysfsTer15) n.217dup | |
16 | g.56902439T>A | CA495613330 | SLC12A3 | c.2787T>A (p.Thr929=) c.2784T>A (p.Thr928=) c.2814T>A (p.Thr938=) c.2811T>A (p.Thr937=) n.218T>A | |
16 | g.56902439T>C | CA495613331 | SLC12A3 | c.2787T>C (p.Thr929=) c.2784T>C (p.Thr928=) c.2814T>C (p.Thr938=) c.2811T>C (p.Thr937=) n.218T>C | |
16 | g.56902439T>G | CA495613332 | SLC12A3 | c.2787T>G (p.Thr929=) c.2784T>G (p.Thr928=) c.2814T>G (p.Thr938=) c.2811T>G (p.Thr937=) n.218T>G | |
16 | g.56902440G>A | CA396001308 | SLC12A3 | c.2788G>A (p.Val930Ile) c.2785G>A (p.Val929Ile) c.2815G>A (p.Val939Ile) c.2812G>A (p.Val938Ile) n.219G>A | |
16 | g.56902440G>C | CA396001307 | SLC12A3 | c.2788G>C (p.Val930Leu) c.2785G>C (p.Val929Leu) c.2815G>C (p.Val939Leu) c.2812G>C (p.Val938Leu) n.219G>C | |
16 | g.56902440G>T | CA396001305 | SLC12A3 | c.2788G>T (p.Val930Phe) c.2785G>T (p.Val929Phe) c.2815G>T (p.Val939Phe) c.2812G>T (p.Val938Phe) n.219G>T | |
16 | g.56902441T>A | CA396001311 | SLC12A3 | c.2789T>A (p.Val930Asp) c.2786T>A (p.Val929Asp) c.2816T>A (p.Val939Asp) c.2813T>A (p.Val938Asp) n.220T>A | |
16 | g.56902441T>C | CA396001313 | SLC12A3 | c.2789T>C (p.Val930Ala) c.2786T>C (p.Val929Ala) c.2816T>C (p.Val939Ala) c.2813T>C (p.Val938Ala) n.220T>C | |
16 | g.56902441T>G | CA396001314 | SLC12A3 | c.2789T>G (p.Val930Gly) c.2786T>G (p.Val929Gly) c.2816T>G (p.Val939Gly) c.2813T>G (p.Val938Gly) n.220T>G | |
16 | g.56902442C>A | CA495613333 | SLC12A3 | c.2790C>A (p.Val930=) c.2787C>A (p.Val929=) c.2817C>A (p.Val939=) c.2814C>A (p.Val938=) n.221C>A | ClinVar |
16 | g.56902442C>G | CA495613334 | SLC12A3 | c.2790C>G (p.Val930=) c.2787C>G (p.Val929=) c.2817C>G (p.Val939=) c.2814C>G (p.Val938=) n.221C>G | |
16 | g.56902442C>T | CA495613335 | SLC12A3 | c.2790C>T (p.Val930=) c.2787C>T (p.Val929=) c.2817C>T (p.Val939=) c.2814C>T (p.Val938=) n.221C>T | |
16 | g.56902443A>C | CA396001317 | SLC12A3 | c.2791A>C (p.Asn931His) c.2788A>C (p.Asn930His) c.2818A>C (p.Asn940His) c.2815A>C (p.Asn939His) n.222A>C | |
16 | g.56902443A>G | CA396001319 | SLC12A3 | c.2791A>G (p.Asn931Asp) c.2788A>G (p.Asn930Asp) c.2818A>G (p.Asn940Asp) c.2815A>G (p.Asn939Asp) n.222A>G | |
16 | g.56902443A>T | CA396001321 | SLC12A3 | c.2791A>T (p.Asn931Tyr) c.2788A>T (p.Asn930Tyr) c.2818A>T (p.Asn940Tyr) c.2815A>T (p.Asn939Tyr) n.222A>T | |
16 | g.56902444A>C | CA396001323 | SLC12A3 | c.2792A>C (p.Asn931Thr) c.2789A>C (p.Asn930Thr) c.2819A>C (p.Asn940Thr) c.2816A>C (p.Asn939Thr) n.223A>C | |
16 | g.56902444A>G | CA396001325 | SLC12A3 | c.2792A>G (p.Asn931Ser) c.2789A>G (p.Asn930Ser) c.2819A>G (p.Asn940Ser) c.2816A>G (p.Asn939Ser) n.223A>G | |
16 | g.56902444A>T | CA396001327 | SLC12A3 | c.2792A>T (p.Asn931Ile) c.2789A>T (p.Asn930Ile) c.2819A>T (p.Asn940Ile) c.2816A>T (p.Asn939Ile) n.223A>T | |
16 | g.56902445C>A | CA396001329 | SLC12A3 | c.2793C>A (p.Asn931Lys) c.2790C>A (p.Asn930Lys) c.2820C>A (p.Asn940Lys) c.2817C>A (p.Asn939Lys) n.224C>A | COSMIC |
16 | g.56902445C= | CA2224364821 | SLC12A3 | c.2793C= (p.Asn931=) c.2790C= (p.Asn930=) c.2820C= (p.Asn940=) c.2817C= (p.Asn939=) n.224C= | |
16 | g.56902445C>G | CA396001330 | SLC12A3 | c.2793C>G (p.Asn931Lys) c.2790C>G (p.Asn930Lys) c.2820C>G (p.Asn940Lys) c.2817C>G (p.Asn939Lys) n.224C>G | |
16 | g.56902445C>T | CA8070059 | SLC12A3 | c.2793C>T (p.Asn931=) c.2790C>T (p.Asn930=) c.2820C>T (p.Asn940=) c.2817C>T (p.Asn939=) n.224C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56902446G>A | CA396001335 | SLC12A3 | c.2794G>A (p.Glu932Lys) c.2791G>A (p.Glu931Lys) c.2821G>A (p.Glu941Lys) c.2818G>A (p.Glu940Lys) n.225G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56902446G>C | CA396001337 | SLC12A3 | c.2794G>C (p.Glu932Gln) c.2791G>C (p.Glu931Gln) c.2821G>C (p.Glu941Gln) c.2818G>C (p.Glu940Gln) n.225G>C | |
16 | g.56902446G= | CA2224364822 | SLC12A3 | c.2794G= (p.Glu932=) c.2791G= (p.Glu931=) c.2821G= (p.Glu941=) c.2818G= (p.Glu940=) n.225G= | |
16 | g.56902446G>T | CA396001334 | SLC12A3 | c.2794G>T (p.Glu932Ter) c.2791G>T (p.Glu931Ter) c.2821G>T (p.Glu941Ter) c.2818G>T (p.Glu940Ter) n.225G>T | ClinVar dbSNP gnomAD v4 |
16 | g.56902447A>C | CA396001340 | SLC12A3 | c.2795A>C (p.Glu932Ala) c.2792A>C (p.Glu931Ala) c.2822A>C (p.Glu941Ala) c.2819A>C (p.Glu940Ala) n.226A>C | |
16 | g.56902447A>G | CA396001341 | SLC12A3 | c.2795A>G (p.Glu932Gly) c.2792A>G (p.Glu931Gly) c.2822A>G (p.Glu941Gly) c.2819A>G (p.Glu940Gly) n.226A>G | |
16 | g.56902447A>T | CA396001342 | SLC12A3 | c.2795A>T (p.Glu932Val) c.2792A>T (p.Glu931Val) c.2822A>T (p.Glu941Val) c.2819A>T (p.Glu940Val) n.226A>T | |
16 | g.56902448G>A | CA495613337 | SLC12A3 | c.2796G>A (p.Glu932=) c.2793G>A (p.Glu931=) c.2823G>A (p.Glu941=) c.2820G>A (p.Glu940=) n.227G>A | gnomAD v4 |
16 | g.56902448G>C | CA396001343 | SLC12A3 | c.2796G>C (p.Glu932Asp) c.2793G>C (p.Glu931Asp) c.2823G>C (p.Glu941Asp) c.2820G>C (p.Glu940Asp) n.227G>C | |
16 | g.56902448G>T | CA396001344 | SLC12A3 | c.2796G>T (p.Glu932Asp) c.2793G>T (p.Glu931Asp) c.2823G>T (p.Glu941Asp) c.2820G>T (p.Glu940Asp) n.227G>T | |
16 | g.56902449A>C | CA396001349 | SLC12A3 | c.2797A>C (p.Met933Leu) c.2794A>C (p.Met932Leu) c.2824A>C (p.Met942Leu) c.2821A>C (p.Met941Leu) n.228A>C | |
16 | g.56902449A>G | CA396001347 | SLC12A3 | c.2797A>G (p.Met933Val) c.2794A>G (p.Met932Val) c.2824A>G (p.Met942Val) c.2821A>G (p.Met941Val) n.228A>G | |
16 | g.56902449A>T | CA396001346 | SLC12A3 | c.2797A>T (p.Met933Leu) c.2794A>T (p.Met932Leu) c.2824A>T (p.Met942Leu) c.2821A>T (p.Met941Leu) n.228A>T | gnomAD v4 |
16 | g.56902450T>A | CA8070060 | SLC12A3 | c.2798T>A (p.Met933Lys) c.2795T>A (p.Met932Lys) c.2825T>A (p.Met942Lys) c.2822T>A (p.Met941Lys) n.229T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56902450T>C | CA281519765 | SLC12A3 | c.2798T>C (p.Met933Thr) c.2795T>C (p.Met932Thr) c.2825T>C (p.Met942Thr) c.2822T>C (p.Met941Thr) n.229T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902450T>G | CA396001353 | SLC12A3 | c.2798T>G (p.Met933Arg) c.2795T>G (p.Met932Arg) c.2825T>G (p.Met942Arg) c.2822T>G (p.Met941Arg) n.229T>G | |
16 | g.56902450T= | CA2224364823 | SLC12A3 | c.2798T= (p.Met933=) c.2795T= (p.Met932=) c.2825T= (p.Met942=) c.2822T= (p.Met941=) n.229T= | |
16 | g.56902451G>A | CA396001356 | SLC12A3 | c.2799G>A (p.Met933Ile) c.2796G>A (p.Met932Ile) c.2826G>A (p.Met942Ile) c.2823G>A (p.Met941Ile) n.230G>A | |
16 | g.56902451G>C | CA396001357 | SLC12A3 | c.2799G>C (p.Met933Ile) c.2796G>C (p.Met932Ile) c.2826G>C (p.Met942Ile) c.2823G>C (p.Met941Ile) n.230G>C | |
16 | g.56902451G>T | CA396001359 | SLC12A3 | c.2799G>T (p.Met933Ile) c.2796G>T (p.Met932Ile) c.2826G>T (p.Met942Ile) c.2823G>T (p.Met941Ile) n.230G>T | |
16 | g.56902452_56902453dup | CA2224364824 | SLC12A3 | c.2800_2801dup (p.Arg935GlyfsTer24) c.2797_2798dup (p.Arg934GlyfsTer24) c.2827_2828dup (p.Arg944GlyfsTer24) c.2824_2825dup (p.Arg943GlyfsTer24) n.231_232dup | dbSNP |
16 | g.56902451_56902455delinsGCGGC | CA2224364825 | SLC12A3 | c.2799_2803delinsGCGGC (p.Met933=) c.2796_2800delinsGCGGC (p.Met932=) c.2826_2830delinsGCGGC (p.Met942=) c.2823_2827delinsGCGGC (p.Met941=) n.230_234delinsGCGGC | |
16 | g.56902452C>A | CA495613339 | SLC12A3 | c.2800C>A (p.Arg934=) c.2797C>A (p.Arg933=) c.2827C>A (p.Arg943=) c.2824C>A (p.Arg942=) n.231C>A | |
16 | g.56902452C= | CA2224364826 | SLC12A3 | c.2800C= (p.Arg934=) c.2797C= (p.Arg933=) c.2827C= (p.Arg943=) c.2824C= (p.Arg942=) n.231C= | |
16 | g.56902452C>G | CA396001362 | SLC12A3 | c.2800C>G (p.Arg934Gly) c.2797C>G (p.Arg933Gly) c.2827C>G (p.Arg943Gly) c.2824C>G (p.Arg942Gly) n.231C>G | |
16 | g.56902452C>T | CA8070062 | SLC12A3 | c.2800C>T (p.Arg934Trp) c.2797C>T (p.Arg933Trp) c.2827C>T (p.Arg943Trp) c.2824C>T (p.Arg942Trp) n.231C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56902452_56902455del | CA8070061 | SLC12A3 | c.2800_2803del (p.Arg934GlyfsTer23) c.2797_2800del (p.Arg933GlyfsTer23) c.2827_2830del (p.Arg943GlyfsTer23) c.2824_2827del (p.Arg942GlyfsTer23) n.231_234del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56902453G>A | CA8070063 | SLC12A3 | c.2801G>A (p.Arg934Gln) c.2798G>A (p.Arg933Gln) c.2828G>A (p.Arg943Gln) c.2825G>A (p.Arg942Gln) n.232G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902453G>C | CA396001366 | SLC12A3 | c.2801G>C (p.Arg934Pro) c.2798G>C (p.Arg933Pro) c.2828G>C (p.Arg943Pro) c.2825G>C (p.Arg942Pro) n.232G>C | |
16 | g.56902453G= | CA2224364827 | SLC12A3 | c.2801G= (p.Arg934=) c.2798G= (p.Arg933=) c.2828G= (p.Arg943=) c.2825G= (p.Arg942=) n.232G= | |
16 | g.56902453G>T | CA396001368 | SLC12A3 | c.2801G>T (p.Arg934Leu) c.2798G>T (p.Arg933Leu) c.2828G>T (p.Arg943Leu) c.2825G>T (p.Arg942Leu) n.232G>T | gnomAD v4 |
16 | g.56902454G>A | CA8070064 | SLC12A3 | c.2802G>A (p.Arg934=) c.2799G>A (p.Arg933=) c.2829G>A (p.Arg943=) c.2826G>A (p.Arg942=) n.233G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56902454G>C | CA495613341 | SLC12A3 | c.2802G>C (p.Arg934=) c.2799G>C (p.Arg933=) c.2829G>C (p.Arg943=) c.2826G>C (p.Arg942=) n.233G>C | ClinVar dbSNP |
16 | g.56902454G= | CA2224364828 | SLC12A3 | c.2802G= (p.Arg934=) c.2799G= (p.Arg933=) c.2829G= (p.Arg943=) c.2826G= (p.Arg942=) n.233G= | |
16 | g.56902454G>T | CA495613342 | SLC12A3 | c.2802G>T (p.Arg934=) c.2799G>T (p.Arg933=) c.2829G>T (p.Arg943=) c.2826G>T (p.Arg942=) n.233G>T | |
16 | g.56902455C>A | CA495613343 | SLC12A3 | c.2803C>A (p.Arg935=) c.2800C>A (p.Arg934=) c.2830C>A (p.Arg944=) c.2827C>A (p.Arg943=) n.234C>A | ClinVar dbSNP gnomAD v4 |
16 | g.56902455C= | CA2224364829 | SLC12A3 | c.2803C= (p.Arg935=) c.2800C= (p.Arg934=) c.2830C= (p.Arg944=) c.2827C= (p.Arg943=) n.234C= | |
16 | g.56902455C>G | CA396001370 | SLC12A3 | c.2803C>G (p.Arg935Gly) c.2800C>G (p.Arg934Gly) c.2830C>G (p.Arg944Gly) c.2827C>G (p.Arg943Gly) n.234C>G | |
16 | g.56902455C>T | CA8070065 | SLC12A3 | c.2803C>T (p.Arg935Trp) c.2800C>T (p.Arg934Trp) c.2830C>T (p.Arg944Trp) c.2827C>T (p.Arg943Trp) n.234C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902456G>A | CA8070066 | SLC12A3 | c.2804G>A (p.Arg935Gln) c.2801G>A (p.Arg934Gln) c.2831G>A (p.Arg944Gln) c.2828G>A (p.Arg943Gln) n.235G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902456G>C | CA396001374 | SLC12A3 | c.2804G>C (p.Arg935Pro) c.2801G>C (p.Arg934Pro) c.2831G>C (p.Arg944Pro) c.2828G>C (p.Arg943Pro) n.235G>C | |
16 | g.56902456G= | CA2224364830 | SLC12A3 | c.2804G= (p.Arg935=) c.2801G= (p.Arg934=) c.2831G= (p.Arg944=) c.2828G= (p.Arg943=) n.235G= | |
16 | g.56902456G>T | CA396001376 | SLC12A3 | c.2804G>T (p.Arg935Leu) c.2801G>T (p.Arg934Leu) c.2831G>T (p.Arg944Leu) c.2828G>T (p.Arg943Leu) n.235G>T | |
16 | g.56902457G>A | CA495613345 | SLC12A3 | c.2805G>A (p.Arg935=) c.2802G>A (p.Arg934=) c.2832G>A (p.Arg944=) c.2829G>A (p.Arg943=) n.236G>A | ClinVar |
16 | g.56902457G>C | CA495613346 | SLC12A3 | c.2805G>C (p.Arg935=) c.2802G>C (p.Arg934=) c.2832G>C (p.Arg944=) c.2829G>C (p.Arg943=) n.236G>C | |
16 | g.56902457G= | CA2224364831 | SLC12A3 | c.2805G= (p.Arg935=) c.2802G= (p.Arg934=) c.2832G= (p.Arg944=) c.2829G= (p.Arg943=) n.236G= | |
16 | g.56902457G>T | CA495613344 | SLC12A3 | c.2805G>T (p.Arg935=) c.2802G>T (p.Arg934=) c.2832G>T (p.Arg944=) c.2829G>T (p.Arg943=) n.236G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902457_56902458insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT | CA8070067 | SLC12A3 | c.2805_2806insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp936ProfsTer14) c.2802_2803insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp935ProfsTer14) c.2832_2833insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp945ProfsTer14) c.2829_2830insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp944ProfsTer14) n.236_237insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT | dbSNP ExAC |
16 | g.56902458G>A | CA396001379 | SLC12A3 | c.2806G>A (p.Asp936Asn) c.2803G>A (p.Asp935Asn) c.2833G>A (p.Asp945Asn) c.2830G>A (p.Asp944Asn) n.237G>A | |
16 | g.56902458G>C | CA396001381 | SLC12A3 | c.2806G>C (p.Asp936His) c.2803G>C (p.Asp935His) c.2833G>C (p.Asp945His) c.2830G>C (p.Asp944His) n.237G>C | |
16 | g.56902458G= | CA2224364832 | SLC12A3 | c.2806G= (p.Asp936=) c.2803G= (p.Asp935=) c.2833G= (p.Asp945=) c.2830G= (p.Asp944=) n.237G= | |
16 | g.56902458G>T | CA396001383 | SLC12A3 | c.2806G>T (p.Asp936Tyr) c.2803G>T (p.Asp935Tyr) c.2833G>T (p.Asp945Tyr) c.2830G>T (p.Asp944Tyr) n.237G>T | dbSNP |
16 | g.56902459A>C | CA396001386 | SLC12A3 | c.2807A>C (p.Asp936Ala) c.2804A>C (p.Asp935Ala) c.2834A>C (p.Asp945Ala) c.2831A>C (p.Asp944Ala) n.238A>C | |
16 | g.56902459A>G | CA396001385 | SLC12A3 | c.2807A>G (p.Asp936Gly) c.2804A>G (p.Asp935Gly) c.2834A>G (p.Asp945Gly) c.2831A>G (p.Asp944Gly) n.238A>G | |
16 | g.56902459A>T | CA396001384 | SLC12A3 | c.2807A>T (p.Asp936Val) c.2804A>T (p.Asp935Val) c.2834A>T (p.Asp945Val) c.2831A>T (p.Asp944Val) n.238A>T | |
16 | g.56902460C>A | CA396001388 | SLC12A3 | c.2808C>A (p.Asp936Glu) c.2805C>A (p.Asp935Glu) c.2835C>A (p.Asp945Glu) c.2832C>A (p.Asp944Glu) n.239C>A | |
16 | g.56902460C>G | CA396001390 | SLC12A3 | c.2808C>G (p.Asp936Glu) c.2805C>G (p.Asp935Glu) c.2835C>G (p.Asp945Glu) c.2832C>G (p.Asp944Glu) n.239C>G | |
16 | g.56902460C>T | CA495613352 | SLC12A3 | c.2808C>T (p.Asp936=) c.2805C>T (p.Asp935=) c.2835C>T (p.Asp945=) c.2832C>T (p.Asp944=) n.239C>T | |
16 | g.56902461T>A | CA396001392 | SLC12A3 | c.2809T>A (p.Cys937Ser) c.2806T>A (p.Cys936Ser) c.2836T>A (p.Cys946Ser) c.2833T>A (p.Cys945Ser) n.240T>A | |
16 | g.56902461T>C | CA396001394 | SLC12A3 | c.2809T>C (p.Cys937Arg) c.2806T>C (p.Cys936Arg) c.2836T>C (p.Cys946Arg) c.2833T>C (p.Cys945Arg) n.240T>C | |
16 | g.56902461T>G | CA396001397 | SLC12A3 | c.2809T>G (p.Cys937Gly) c.2806T>G (p.Cys936Gly) c.2836T>G (p.Cys946Gly) c.2833T>G (p.Cys945Gly) n.240T>G | |
16 | g.56902462G>A | CA396001400 | SLC12A3 | c.2810G>A (p.Cys937Tyr) c.2807G>A (p.Cys936Tyr) c.2837G>A (p.Cys946Tyr) c.2834G>A (p.Cys945Tyr) n.241G>A | |
16 | g.56902462G>C | CA396001402 | SLC12A3 | c.2810G>C (p.Cys937Ser) c.2807G>C (p.Cys936Ser) c.2837G>C (p.Cys946Ser) c.2834G>C (p.Cys945Ser) n.241G>C | |
16 | g.56902462G>T | CA396001403 | SLC12A3 | c.2810G>T (p.Cys937Phe) c.2807G>T (p.Cys936Phe) c.2837G>T (p.Cys946Phe) c.2834G>T (p.Cys945Phe) n.241G>T | |
16 | g.56902462_56902463delinsGC | CA2224364833 | SLC12A3 | c.2810_2811delinsGC (p.Cys937=) c.2807_2808delinsGC (p.Cys936=) c.2837_2838delinsGC (p.Cys946=) c.2834_2835delinsGC (p.Cys945=) n.241_242delinsGC | |
16 | g.56902463C>A | CA396001407 | SLC12A3 | c.2811C>A (p.Cys937Ter) c.2808C>A (p.Cys936Ter) c.2838C>A (p.Cys946Ter) c.2835C>A (p.Cys945Ter) n.242C>A | ClinVar gnomAD v4 |
16 | g.56902463C>G | CA396001406 | SLC12A3 | c.2811C>G (p.Cys937Trp) c.2808C>G (p.Cys936Trp) c.2838C>G (p.Cys946Trp) c.2835C>G (p.Cys945Trp) n.242C>G | |
16 | g.56902463C>T | CA495613356 | SLC12A3 | c.2811C>T (p.Cys937=) c.2808C>T (p.Cys936=) c.2838C>T (p.Cys946=) c.2835C>T (p.Cys945=) n.242C>T | |
16 | g.56902466dup | CA2843084633 | SLC12A3 | c.2814dup (p.Trp939LeufsTer6) c.2811dup (p.Trp938LeufsTer6) c.2841dup (p.Trp948LeufsTer6) c.2838dup (p.Trp947LeufsTer6) n.245dup | |
16 | g.56902466del | CA721949480 | SLC12A3 | c.2814del (p.Trp939GlyfsTer19) c.2811del (p.Trp938GlyfsTer19) c.2841del (p.Trp948GlyfsTer19) c.2838del (p.Trp947GlyfsTer19) n.245del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902464C>A | CA396001409 | SLC12A3 | c.2812C>A (p.Pro938Thr) c.2809C>A (p.Pro937Thr) c.2839C>A (p.Pro947Thr) c.2836C>A (p.Pro946Thr) n.243C>A | |
16 | g.56902464C= | CA2224364834 | SLC12A3 | c.2812C= (p.Pro938=) c.2809C= (p.Pro937=) c.2839C= (p.Pro947=) c.2836C= (p.Pro946=) n.243C= | |
16 | g.56902464C>G | CA396001411 | SLC12A3 | c.2812C>G (p.Pro938Ala) c.2809C>G (p.Pro937Ala) c.2839C>G (p.Pro947Ala) c.2836C>G (p.Pro946Ala) n.243C>G | |
16 | g.56902464C>T | CA8070068 | SLC12A3 | c.2812C>T (p.Pro938Ser) c.2809C>T (p.Pro937Ser) c.2839C>T (p.Pro947Ser) c.2836C>T (p.Pro946Ser) n.243C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902465C>A | CA396001414 | SLC12A3 | c.2813C>A (p.Pro938His) c.2810C>A (p.Pro937His) c.2840C>A (p.Pro947His) c.2837C>A (p.Pro946His) n.244C>A | |
16 | g.56902465C= | CA2224364835 | SLC12A3 | c.2813C= (p.Pro938=) c.2810C= (p.Pro937=) c.2840C= (p.Pro947=) c.2837C= (p.Pro946=) n.244C= | |
16 | g.56902465C>G | CA396001415 | SLC12A3 | c.2813C>G (p.Pro938Arg) c.2810C>G (p.Pro937Arg) c.2840C>G (p.Pro947Arg) c.2837C>G (p.Pro946Arg) n.244C>G | |
16 | g.56902465C>T | CA396001416 | SLC12A3 | c.2813C>T (p.Pro938Leu) c.2810C>T (p.Pro937Leu) c.2840C>T (p.Pro947Leu) c.2837C>T (p.Pro946Leu) n.244C>T | dbSNP gnomAD v4 |
16 | g.56902466C>A | CA495613361 | SLC12A3 | c.2814C>A (p.Pro938=) c.2811C>A (p.Pro937=) c.2841C>A (p.Pro947=) c.2838C>A (p.Pro946=) n.245C>A | |
16 | g.56902466C>G | CA495613363 | SLC12A3 | c.2814C>G (p.Pro938=) c.2811C>G (p.Pro937=) c.2841C>G (p.Pro947=) c.2838C>G (p.Pro946=) n.245C>G | ClinVar |
16 | g.56902466C>T | CA495613365 | SLC12A3 | c.2814C>T (p.Pro938=) c.2811C>T (p.Pro937=) c.2841C>T (p.Pro947=) c.2838C>T (p.Pro946=) n.245C>T | |
16 | g.56902467del | CA2573152457 | SLC12A3 | c.2815del (p.Trp939GlyfsTer19) c.2812del (p.Trp938GlyfsTer19) c.2842del (p.Trp948GlyfsTer19) c.2839del (p.Trp947GlyfsTer19) n.246del | ClinVar dbSNP gnomAD v4 |
16 | g.56902467T>A | CA396001417 | SLC12A3 | c.2815T>A (p.Trp939Arg) c.2812T>A (p.Trp938Arg) c.2842T>A (p.Trp948Arg) c.2839T>A (p.Trp947Arg) n.246T>A | |
16 | g.56902467T>C | CA396001420 | SLC12A3 | c.2815T>C (p.Trp939Arg) c.2812T>C (p.Trp938Arg) c.2842T>C (p.Trp948Arg) c.2839T>C (p.Trp947Arg) n.246T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902467T>G | CA396001419 | SLC12A3 | c.2815T>G (p.Trp939Gly) c.2812T>G (p.Trp938Gly) c.2842T>G (p.Trp948Gly) c.2839T>G (p.Trp947Gly) n.246T>G | |
16 | g.56902467T= | CA2224364836 | SLC12A3 | c.2815T= (p.Trp939=) c.2812T= (p.Trp938=) c.2842T= (p.Trp948=) c.2839T= (p.Trp947=) n.246T= | |
16 | g.56902468G>A | CA396001422 | SLC12A3 | c.2816G>A (p.Trp939Ter) c.2813G>A (p.Trp938Ter) c.2843G>A (p.Trp948Ter) c.2840G>A (p.Trp947Ter) n.247G>A | |
16 | g.56902468G>C | CA396001424 | SLC12A3 | c.2816G>C (p.Trp939Ser) c.2813G>C (p.Trp938Ser) c.2843G>C (p.Trp948Ser) c.2840G>C (p.Trp947Ser) n.247G>C | |
16 | g.56902468G>T | CA396001425 | SLC12A3 | c.2816G>T (p.Trp939Leu) c.2813G>T (p.Trp938Leu) c.2843G>T (p.Trp948Leu) c.2840G>T (p.Trp947Leu) n.247G>T | |
16 | g.56902469G>A | CA396001427 | SLC12A3 | c.2817G>A (p.Trp939Ter) c.2814G>A (p.Trp938Ter) c.2844G>A (p.Trp948Ter) c.2841G>A (p.Trp947Ter) n.248G>A | ClinVar dbSNP gnomAD v4 |
16 | g.56902469G>C | CA396001428 | SLC12A3 | c.2817G>C (p.Trp939Cys) c.2814G>C (p.Trp938Cys) c.2844G>C (p.Trp948Cys) c.2841G>C (p.Trp947Cys) n.248G>C | |
16 | g.56902469G= | CA2224364837 | SLC12A3 | c.2817G= (p.Trp939=) c.2814G= (p.Trp938=) c.2844G= (p.Trp948=) c.2841G= (p.Trp947=) n.248G= | |
16 | g.56902469G>T | CA8070069 | SLC12A3 | c.2817G>T (p.Trp939Cys) c.2814G>T (p.Trp938Cys) c.2844G>T (p.Trp948Cys) c.2841G>T (p.Trp947Cys) n.248G>T | dbSNP ExAC gnomAD v2 |
16 | g.56902470A>C | CA396001432 | SLC12A3 | c.2818A>C (p.Lys940Gln) c.2815A>C (p.Lys939Gln) c.2845A>C (p.Lys949Gln) c.2842A>C (p.Lys948Gln) n.249A>C | |
16 | g.56902470A>G | CA396001433 | SLC12A3 | c.2818A>G (p.Lys940Glu) c.2815A>G (p.Lys939Glu) c.2845A>G (p.Lys949Glu) c.2842A>G (p.Lys948Glu) n.249A>G | |
16 | g.56902470A>T | CA396001435 | SLC12A3 | c.2818A>T (p.Lys940Ter) c.2815A>T (p.Lys939Ter) c.2845A>T (p.Lys949Ter) c.2842A>T (p.Lys948Ter) n.249A>T | ClinVar |
16 | g.56902471A>C | CA396001438 | SLC12A3 | c.2819A>C (p.Lys940Thr) c.2816A>C (p.Lys939Thr) c.2846A>C (p.Lys949Thr) c.2843A>C (p.Lys948Thr) n.250A>C | |
16 | g.56902471A>G | CA396001439 | SLC12A3 | c.2819A>G (p.Lys940Arg) c.2816A>G (p.Lys939Arg) c.2846A>G (p.Lys949Arg) c.2843A>G (p.Lys948Arg) n.250A>G | |
16 | g.56902471A>T | CA396001441 | SLC12A3 | c.2819A>T (p.Lys940Met) c.2816A>T (p.Lys939Met) c.2846A>T (p.Lys949Met) c.2843A>T (p.Lys948Met) n.250A>T | gnomAD v4 |
16 | g.56902472_56902473del | CA2695223516 | SLC12A3 | c.2820_2821del (p.Lys940AsnfsTer4) c.2817_2818del (p.Lys939AsnfsTer4) c.2847_2848del (p.Lys949AsnfsTer4) c.2844_2845del (p.Lys948AsnfsTer4) n.251_252del | |
16 | g.56902472G>A | CA495613368 | SLC12A3 | c.2820G>A (p.Lys940=) c.2817G>A (p.Lys939=) c.2847G>A (p.Lys949=) c.2844G>A (p.Lys948=) n.251G>A | ClinVar dbSNP gnomAD v4 |
16 | g.56902472G>C | CA396001442 | SLC12A3 | c.2820G>C (p.Lys940Asn) c.2817G>C (p.Lys939Asn) c.2847G>C (p.Lys949Asn) c.2844G>C (p.Lys948Asn) n.251G>C | COSMIC |
16 | g.56902472G= | CA2224364838 | SLC12A3 | c.2820G= (p.Lys940=) c.2817G= (p.Lys939=) c.2847G= (p.Lys949=) c.2844G= (p.Lys948=) n.251G= | |
16 | g.56902472G>T | CA396001443 | SLC12A3 | c.2820G>T (p.Lys940Asn) c.2817G>T (p.Lys939Asn) c.2847G>T (p.Lys949Asn) c.2844G>T (p.Lys948Asn) n.251G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902473A>C | CA396001445 | SLC12A3 | c.2821A>C (p.Ile941Leu) c.2818A>C (p.Ile940Leu) c.2848A>C (p.Ile950Leu) c.2845A>C (p.Ile949Leu) n.252A>C | |
16 | g.56902473A>G | CA396001446 | SLC12A3 | c.2821A>G (p.Ile941Val) c.2818A>G (p.Ile940Val) c.2848A>G (p.Ile950Val) c.2845A>G (p.Ile949Val) n.252A>G | |
16 | g.56902473A>T | CA396001448 | SLC12A3 | c.2821A>T (p.Ile941Phe) c.2818A>T (p.Ile940Phe) c.2848A>T (p.Ile950Phe) c.2845A>T (p.Ile949Phe) n.252A>T | |
16 | g.56902474T>A | CA396001450 | SLC12A3 | c.2822T>A (p.Ile941Asn) c.2819T>A (p.Ile940Asn) c.2849T>A (p.Ile950Asn) c.2846T>A (p.Ile949Asn) n.253T>A | |
16 | g.56902474T>C | CA396001452 | SLC12A3 | c.2822T>C (p.Ile941Thr) c.2819T>C (p.Ile940Thr) c.2849T>C (p.Ile950Thr) c.2846T>C (p.Ile949Thr) n.253T>C | |
16 | g.56902474T>G | CA396001454 | SLC12A3 | c.2822T>G (p.Ile941Ser) c.2819T>G (p.Ile940Ser) c.2849T>G (p.Ile950Ser) c.2846T>G (p.Ile949Ser) n.253T>G | |
16 | g.56902475C>A | CA495613371 | SLC12A3 | c.2823C>A (p.Ile941=) c.2820C>A (p.Ile940=) c.2850C>A (p.Ile950=) c.2847C>A (p.Ile949=) n.254C>A | |
16 | g.56902475C>G | CA396001455 | SLC12A3 | c.2823C>G (p.Ile941Met) c.2820C>G (p.Ile940Met) c.2850C>G (p.Ile950Met) c.2847C>G (p.Ile949Met) n.254C>G | |
16 | g.56902475C>T | CA495613372 | SLC12A3 | c.2823C>T (p.Ile941=) c.2820C>T (p.Ile940=) c.2850C>T (p.Ile950=) c.2847C>T (p.Ile949=) n.254C>T | |
16 | g.56902476T>A | CA396001458 | SLC12A3 | c.2824T>A (p.Ser942Thr) c.2821T>A (p.Ser941Thr) c.2851T>A (p.Ser951Thr) c.2848T>A (p.Ser950Thr) n.255T>A | |
16 | g.56902476T>C | CA396001459 | SLC12A3 | c.2824T>C (p.Ser942Pro) c.2821T>C (p.Ser941Pro) c.2851T>C (p.Ser951Pro) c.2848T>C (p.Ser950Pro) n.255T>C | |
16 | g.56902476T>G | CA396001460 | SLC12A3 | c.2824T>G (p.Ser942Ala) c.2821T>G (p.Ser941Ala) c.2851T>G (p.Ser951Ala) c.2848T>G (p.Ser950Ala) n.255T>G | |
16 | g.56902477C>A | CA396001462 | SLC12A3 | c.2825C>A (p.Ser942Ter) c.2822C>A (p.Ser941Ter) c.2852C>A (p.Ser951Ter) c.2849C>A (p.Ser950Ter) n.256C>A | gnomAD v4 |
16 | g.56902477C>G | CA396001464 | SLC12A3 | c.2825C>G (p.Ser942Ter) c.2822C>G (p.Ser941Ter) c.2852C>G (p.Ser951Ter) c.2849C>G (p.Ser950Ter) n.256C>G | |
16 | g.56902477C>T | CA396001465 | SLC12A3 | c.2825C>T (p.Ser942Leu) c.2822C>T (p.Ser941Leu) c.2852C>T (p.Ser951Leu) c.2849C>T (p.Ser950Leu) n.256C>T | |
16 | g.56902478A>C | CA495613375 | SLC12A3 | c.2826A>C (p.Ser942=) c.2823A>C (p.Ser941=) c.2853A>C (p.Ser951=) c.2850A>C (p.Ser950=) n.257A>C | gnomAD v4 |
16 | g.56902478A>G | CA495613377 | SLC12A3 | c.2826A>G (p.Ser942=) c.2823A>G (p.Ser941=) c.2853A>G (p.Ser951=) c.2850A>G (p.Ser950=) n.257A>G | |
16 | g.56902478A>T | CA495613376 | SLC12A3 | c.2826A>T (p.Ser942=) c.2823A>T (p.Ser941=) c.2853A>T (p.Ser951=) c.2850A>T (p.Ser950=) n.257A>T | |
16 | g.56902479G>A | CA396001468 | SLC12A3 | c.2827G>A (p.Asp943Asn) c.2824G>A (p.Asp942Asn) c.2854G>A (p.Asp952Asn) c.2851G>A (p.Asp951Asn) n.258G>A | gnomAD v4 |
16 | g.56902479G>C | CA396001470 | SLC12A3 | c.2827G>C (p.Asp943His) c.2824G>C (p.Asp942His) c.2854G>C (p.Asp952His) c.2851G>C (p.Asp951His) n.258G>C | dbSNP |
16 | g.56902479G= | CA2224364839 | SLC12A3 | c.2827G= (p.Asp943=) c.2824G= (p.Asp942=) c.2854G= (p.Asp952=) c.2851G= (p.Asp951=) n.258G= | |
16 | g.56902479G>T | CA396001466 | SLC12A3 | c.2827G>T (p.Asp943Tyr) c.2824G>T (p.Asp942Tyr) c.2854G>T (p.Asp952Tyr) c.2851G>T (p.Asp951Tyr) n.258G>T | |
16 | g.56902480A>C | CA396001472 | SLC12A3 | c.2828A>C (p.Asp943Ala) c.2825A>C (p.Asp942Ala) c.2855A>C (p.Asp952Ala) c.2852A>C (p.Asp951Ala) n.259A>C | |
16 | g.56902480A>G | CA396001474 | SLC12A3 | c.2828A>G (p.Asp943Gly) c.2825A>G (p.Asp942Gly) c.2855A>G (p.Asp952Gly) c.2852A>G (p.Asp951Gly) n.259A>G | |
16 | g.56902480A>T | CA396001475 | SLC12A3 | c.2828A>T (p.Asp943Val) c.2825A>T (p.Asp942Val) c.2855A>T (p.Asp952Val) c.2852A>T (p.Asp951Val) n.259A>T | |
16 | g.56902481T>A | CA396001477 | SLC12A3 | c.2829T>A (p.Asp943Glu) c.2826T>A (p.Asp942Glu) c.2856T>A (p.Asp952Glu) c.2853T>A (p.Asp951Glu) n.260T>A | |
16 | g.56902481T>C | CA495613381 | SLC12A3 | c.2829T>C (p.Asp943=) c.2826T>C (p.Asp942=) c.2856T>C (p.Asp952=) c.2853T>C (p.Asp951=) n.260T>C | |
16 | g.56902481T>G | CA396001478 | SLC12A3 | c.2829T>G (p.Asp943Glu) c.2826T>G (p.Asp942Glu) c.2856T>G (p.Asp952Glu) c.2853T>G (p.Asp951Glu) n.260T>G | gnomAD v3 gnomAD v4 |
16 | g.56902482G>A | CA8070070 | SLC12A3 | c.2830G>A (p.Glu944Lys) c.2827G>A (p.Glu943Lys) c.2857G>A (p.Glu953Lys) c.2854G>A (p.Glu952Lys) n.261G>A | dbSNP ExAC gnomAD v2 |
16 | g.56902482G>C | CA396001479 | SLC12A3 | c.2830G>C (p.Glu944Gln) c.2827G>C (p.Glu943Gln) c.2857G>C (p.Glu953Gln) c.2854G>C (p.Glu952Gln) n.261G>C | |
16 | g.56902482G= | CA2224364840 | SLC12A3 | c.2830G= (p.Glu944=) c.2827G= (p.Glu943=) c.2857G= (p.Glu953=) c.2854G= (p.Glu952=) n.261G= | |
16 | g.56902482G>T | CA396001481 | SLC12A3 | c.2830G>T (p.Glu944Ter) c.2827G>T (p.Glu943Ter) c.2857G>T (p.Glu953Ter) c.2854G>T (p.Glu952Ter) n.261G>T | |
16 | g.56902485_56902487del | CA2633375664 | SLC12A3 | c.2833_2835del (p.Glu945del) c.2830_2832del (p.Glu944del) c.2860_2862del (p.Glu954del) c.2857_2859del (p.Glu953del) n.264_266del | ClinVar gnomAD v4 |
16 | g.56902483A>C | CA396001484 | SLC12A3 | c.2831A>C (p.Glu944Ala) c.2828A>C (p.Glu943Ala) c.2858A>C (p.Glu953Ala) c.2855A>C (p.Glu952Ala) n.262A>C | |
16 | g.56902483A>G | CA396001486 | SLC12A3 | c.2831A>G (p.Glu944Gly) c.2828A>G (p.Glu943Gly) c.2858A>G (p.Glu953Gly) c.2855A>G (p.Glu952Gly) n.262A>G | |
16 | g.56902483A>T | CA396001487 | SLC12A3 | c.2831A>T (p.Glu944Val) c.2828A>T (p.Glu943Val) c.2858A>T (p.Glu953Val) c.2855A>T (p.Glu952Val) n.262A>T | |
16 | g.56902484G>A | CA495613384 | SLC12A3 | c.2832G>A (p.Glu944=) c.2829G>A (p.Glu943=) c.2859G>A (p.Glu953=) c.2856G>A (p.Glu952=) n.263G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902484G>C | CA396001490 | SLC12A3 | c.2832G>C (p.Glu944Asp) c.2829G>C (p.Glu943Asp) c.2859G>C (p.Glu953Asp) c.2856G>C (p.Glu952Asp) n.263G>C | |
16 | g.56902484G= | CA2224364841 | SLC12A3 | c.2832G= (p.Glu944=) c.2829G= (p.Glu943=) c.2859G= (p.Glu953=) c.2856G= (p.Glu952=) n.263G= | |
16 | g.56902484G>T | CA396001492 | SLC12A3 | c.2832G>T (p.Glu944Asp) c.2829G>T (p.Glu943Asp) c.2859G>T (p.Glu953Asp) c.2856G>T (p.Glu952Asp) n.263G>T | |
16 | g.56902485G>A | CA396001494 | SLC12A3 | c.2833G>A (p.Glu945Lys) c.2830G>A (p.Glu944Lys) c.2860G>A (p.Glu954Lys) c.2857G>A (p.Glu953Lys) n.264G>A | dbSNP COSMIC |
16 | g.56902485G>C | CA396001497 | SLC12A3 | c.2833G>C (p.Glu945Gln) c.2830G>C (p.Glu944Gln) c.2860G>C (p.Glu954Gln) c.2857G>C (p.Glu953Gln) n.264G>C | |
16 | g.56902485G= | CA2224364842 | SLC12A3 | c.2833G= (p.Glu945=) c.2830G= (p.Glu944=) c.2860G= (p.Glu954=) c.2857G= (p.Glu953=) n.264G= | |
16 | g.56902485G>T | CA396001496 | SLC12A3 | c.2833G>T (p.Glu945Ter) c.2830G>T (p.Glu944Ter) c.2860G>T (p.Glu954Ter) c.2857G>T (p.Glu953Ter) n.264G>T | dbSNP gnomAD v4 |
16 | g.56902486A= | CA2224364843 | SLC12A3 | c.2834A= (p.Glu945=) c.2831A= (p.Glu944=) c.2861A= (p.Glu954=) c.2858A= (p.Glu953=) n.265A= | |
16 | g.56902486A>C | CA396001498 | SLC12A3 | c.2834A>C (p.Glu945Ala) c.2831A>C (p.Glu944Ala) c.2861A>C (p.Glu954Ala) c.2858A>C (p.Glu953Ala) n.265A>C | |
16 | g.56902486A>G | CA396001501 | SLC12A3 | c.2834A>G (p.Glu945Gly) c.2831A>G (p.Glu944Gly) c.2861A>G (p.Glu954Gly) c.2858A>G (p.Glu953Gly) n.265A>G | dbSNP gnomAD v4 |
16 | g.56902486A>T | CA396001500 | SLC12A3 | c.2834A>T (p.Glu945Val) c.2831A>T (p.Glu944Val) c.2861A>T (p.Glu954Val) c.2858A>T (p.Glu953Val) n.265A>T | COSMIC |
16 | g.56902487G>A | CA495613388 | SLC12A3 | c.2835G>A (p.Glu945=) c.2832G>A (p.Glu944=) c.2862G>A (p.Glu954=) c.2859G>A (p.Glu953=) n.266G>A | ClinVar |
16 | g.56902487G>C | CA396001503 | SLC12A3 | c.2835G>C (p.Glu945Asp) c.2832G>C (p.Glu944Asp) c.2862G>C (p.Glu954Asp) c.2859G>C (p.Glu953Asp) n.266G>C | |
16 | g.56902487G>T | CA396001505 | SLC12A3 | c.2835G>T (p.Glu945Asp) c.2832G>T (p.Glu944Asp) c.2862G>T (p.Glu954Asp) c.2859G>T (p.Glu953Asp) n.266G>T | gnomAD v4 |
16 | g.56902488A>C | CA396001506 | SLC12A3 | c.2836A>C (p.Ile946Leu) c.2833A>C (p.Ile945Leu) c.2863A>C (p.Ile955Leu) c.2860A>C (p.Ile954Leu) n.267A>C | |
16 | g.56902488A>G | CA396001508 | SLC12A3 | c.2836A>G (p.Ile946Val) c.2833A>G (p.Ile945Val) c.2863A>G (p.Ile955Val) c.2860A>G (p.Ile954Val) n.267A>G | |
16 | g.56902488A>T | CA396001510 | SLC12A3 | c.2836A>T (p.Ile946Phe) c.2833A>T (p.Ile945Phe) c.2863A>T (p.Ile955Phe) c.2860A>T (p.Ile954Phe) n.267A>T | |
16 | g.56902488_56902492del | CA2633375668 | SLC12A3 | c.2836_2840del (p.Ile946GlufsTer14) c.2833_2837del (p.Ile945GlufsTer14) c.2863_2867del (p.Ile955GlufsTer14) c.2860_2864del (p.Ile954GlufsTer14) n.267_271del | gnomAD v4 |
16 | g.56902489T>A | CA396001512 | SLC12A3 | c.2837T>A (p.Ile946Asn) c.2834T>A (p.Ile945Asn) c.2864T>A (p.Ile955Asn) c.2861T>A (p.Ile954Asn) n.268T>A | |
16 | g.56902489T>C | CA396001513 | SLC12A3 | c.2837T>C (p.Ile946Thr) c.2834T>C (p.Ile945Thr) c.2864T>C (p.Ile955Thr) c.2861T>C (p.Ile954Thr) n.268T>C | dbSNP |
16 | g.56902489T>G | CA281519828 | SLC12A3 | c.2837T>G (p.Ile946Ser) c.2834T>G (p.Ile945Ser) c.2864T>G (p.Ile955Ser) c.2861T>G (p.Ile954Ser) n.268T>G | dbSNP gnomAD v4 |
16 | g.56902489T= | CA2224364844 | SLC12A3 | c.2837T= (p.Ile946=) c.2834T= (p.Ile945=) c.2864T= (p.Ile955=) c.2861T= (p.Ile954=) n.268T= | |
16 | g.56902490T>A | CA495613390 | SLC12A3 | c.2838T>A (p.Ile946=) c.2835T>A (p.Ile945=) c.2865T>A (p.Ile955=) c.2862T>A (p.Ile954=) n.269T>A | dbSNP |
16 | g.56902490T>C | CA495613391 | SLC12A3 | c.2838T>C (p.Ile946=) c.2835T>C (p.Ile945=) c.2865T>C (p.Ile955=) c.2862T>C (p.Ile954=) n.269T>C | |
16 | g.56902490T>G | CA396001516 | SLC12A3 | c.2838T>G (p.Ile946Met) c.2835T>G (p.Ile945Met) c.2865T>G (p.Ile955Met) c.2862T>G (p.Ile954Met) n.269T>G | gnomAD v3 gnomAD v4 |
16 | g.56902490T= | CA2224364845 | SLC12A3 | c.2838T= (p.Ile946=) c.2835T= (p.Ile945=) c.2865T= (p.Ile955=) c.2862T= (p.Ile954=) n.269T= | |
16 | g.56902491A>C | CA396001518 | SLC12A3 | c.2839A>C (p.Thr947Pro) c.2836A>C (p.Thr946Pro) c.2866A>C (p.Thr956Pro) c.2863A>C (p.Thr955Pro) n.270A>C | |
16 | g.56902491A>G | CA396001520 | SLC12A3 | c.2839A>G (p.Thr947Ala) c.2836A>G (p.Thr946Ala) c.2866A>G (p.Thr956Ala) c.2863A>G (p.Thr955Ala) n.270A>G | |
16 | g.56902491A>T | CA396001522 | SLC12A3 | c.2839A>T (p.Thr947Ser) c.2836A>T (p.Thr946Ser) c.2866A>T (p.Thr956Ser) c.2863A>T (p.Thr955Ser) n.270A>T | |
16 | g.56902492C>A | CA396001524 | SLC12A3 | c.2840C>A (p.Thr947Lys) c.2837C>A (p.Thr946Lys) c.2867C>A (p.Thr956Lys) c.2864C>A (p.Thr955Lys) n.271C>A | gnomAD v4 |
16 | g.56902492C= | CA2224364846 | SLC12A3 | c.2840C= (p.Thr947=) c.2837C= (p.Thr946=) c.2867C= (p.Thr956=) c.2864C= (p.Thr955=) n.271C= | |
16 | g.56902492C>G | CA396001527 | SLC12A3 | c.2840C>G (p.Thr947Arg) c.2837C>G (p.Thr946Arg) c.2867C>G (p.Thr956Arg) c.2864C>G (p.Thr955Arg) n.271C>G | |
16 | g.56902492C>T | CA8070071 | SLC12A3 | c.2840C>T (p.Thr947Met) c.2837C>T (p.Thr946Met) c.2867C>T (p.Thr956Met) c.2864C>T (p.Thr955Met) n.271C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902493G>A | CA8070072 | SLC12A3 | c.2841G>A (p.Thr947=) c.2838G>A (p.Thr946=) c.2868G>A (p.Thr956=) c.2865G>A (p.Thr955=) n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56902493G>C | CA8070073 | SLC12A3 | c.2841G>C (p.Thr947=) c.2838G>C (p.Thr946=) c.2868G>C (p.Thr956=) c.2865G>C (p.Thr955=) n.272G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902493G= | CA2224364847 | SLC12A3 | c.2841G= (p.Thr947=) c.2838G= (p.Thr946=) c.2868G= (p.Thr956=) c.2865G= (p.Thr955=) n.272G= | |
16 | g.56902493G>T | CA495613395 | SLC12A3 | c.2841G>T (p.Thr947=) c.2838G>T (p.Thr946=) c.2868G>T (p.Thr956=) c.2865G>T (p.Thr955=) n.272G>T | gnomAD v4 |
16 | g.56902494A= | CA2224364848 | SLC12A3 | c.2842A= (p.Lys948=) c.2839A= (p.Lys947=) c.2869A= (p.Lys957=) c.2866A= (p.Lys956=) n.273A= | |
16 | g.56902494A>C | CA396001532 | SLC12A3 | c.2842A>C (p.Lys948Gln) c.2839A>C (p.Lys947Gln) c.2869A>C (p.Lys957Gln) c.2866A>C (p.Lys956Gln) n.273A>C | |
16 | g.56902494A>G | CA396001533 | SLC12A3 | c.2842A>G (p.Lys948Glu) c.2839A>G (p.Lys947Glu) c.2869A>G (p.Lys957Glu) c.2866A>G (p.Lys956Glu) n.273A>G | |
16 | g.56902494A>T | CA396001534 | SLC12A3 | c.2842A>T (p.Lys948Ter) c.2839A>T (p.Lys947Ter) c.2869A>T (p.Lys957Ter) c.2866A>T (p.Lys956Ter) n.273A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902494_56902517del | CA2633375672 | SLC12A3 | c.2842_2856+9del c.2839_2853+9del c.2869_2883+9del c.2866_2880+9del n.273_287+9del | gnomAD v4 |
16 | g.56902495A>C | CA396001536 | SLC12A3 | c.2843A>C (p.Lys948Thr) c.2840A>C (p.Lys947Thr) c.2870A>C (p.Lys957Thr) c.2867A>C (p.Lys956Thr) n.274A>C | |
16 | g.56902495A>G | CA396001538 | SLC12A3 | c.2843A>G (p.Lys948Arg) c.2840A>G (p.Lys947Arg) c.2870A>G (p.Lys957Arg) c.2867A>G (p.Lys956Arg) n.274A>G | |
16 | g.56902495A>T | CA396001540 | SLC12A3 | c.2843A>T (p.Lys948Met) c.2840A>T (p.Lys947Met) c.2870A>T (p.Lys957Met) c.2867A>T (p.Lys956Met) n.274A>T | |
16 | g.56902496G>A | CA495613397 | SLC12A3 | c.2844G>A (p.Lys948=) c.2841G>A (p.Lys947=) c.2871G>A (p.Lys957=) c.2868G>A (p.Lys956=) n.275G>A | gnomAD v4 |
16 | g.56902496G>C | CA396001542 | SLC12A3 | c.2844G>C (p.Lys948Asn) c.2841G>C (p.Lys947Asn) c.2871G>C (p.Lys957Asn) c.2868G>C (p.Lys956Asn) n.275G>C | |
16 | g.56902496G>T | CA396001543 | SLC12A3 | c.2844G>T (p.Lys948Asn) c.2841G>T (p.Lys947Asn) c.2871G>T (p.Lys957Asn) c.2868G>T (p.Lys956Asn) n.275G>T | gnomAD v4 |
16 | g.56902497A>C | CA396001546 | SLC12A3 | c.2845A>C (p.Asn949His) c.2842A>C (p.Asn948His) c.2872A>C (p.Asn958His) c.2869A>C (p.Asn957His) n.276A>C | |
16 | g.56902497A>G | CA396001548 | SLC12A3 | c.2845A>G (p.Asn949Asp) c.2842A>G (p.Asn948Asp) c.2872A>G (p.Asn958Asp) c.2869A>G (p.Asn957Asp) n.276A>G | |
16 | g.56902497A>T | CA396001545 | SLC12A3 | c.2845A>T (p.Asn949Tyr) c.2842A>T (p.Asn948Tyr) c.2872A>T (p.Asn958Tyr) c.2869A>T (p.Asn957Tyr) n.276A>T | |
16 | g.56902498A>C | CA396001550 | SLC12A3 | c.2846A>C (p.Asn949Thr) c.2843A>C (p.Asn948Thr) c.2873A>C (p.Asn958Thr) c.2870A>C (p.Asn957Thr) n.277A>C | gnomAD v4 |
16 | g.56902498A>G | CA396001551 | SLC12A3 | c.2846A>G (p.Asn949Ser) c.2843A>G (p.Asn948Ser) c.2873A>G (p.Asn958Ser) c.2870A>G (p.Asn957Ser) n.277A>G | |
16 | g.56902498A>T | CA396001552 | SLC12A3 | c.2846A>T (p.Asn949Ile) c.2843A>T (p.Asn948Ile) c.2873A>T (p.Asn958Ile) c.2870A>T (p.Asn957Ile) n.277A>T | |
16 | g.56902499C>A | CA396001553 | SLC12A3 | c.2847C>A (p.Asn949Lys) c.2844C>A (p.Asn948Lys) c.2874C>A (p.Asn958Lys) c.2871C>A (p.Asn957Lys) n.278C>A | gnomAD v4 |
16 | g.56902499C= | CA2224364850 | SLC12A3 | c.2847C= (p.Asn949=) c.2844C= (p.Asn948=) c.2874C= (p.Asn958=) c.2871C= (p.Asn957=) n.278C= | |
16 | g.56902499C>G | CA396001555 | SLC12A3 | c.2847C>G (p.Asn949Lys) c.2844C>G (p.Asn948Lys) c.2874C>G (p.Asn958Lys) c.2871C>G (p.Asn957Lys) n.278C>G | dbSNP |
16 | g.56902499C>T | CA495613400 | SLC12A3 | c.2847C>T (p.Asn949=) c.2844C>T (p.Asn948=) c.2874C>T (p.Asn958=) c.2871C>T (p.Asn957=) n.278C>T | |
16 | g.56902499_56902501delinsCAG | CA2224364849 | SLC12A3 | c.2847_2849delinsCAG (p.Asn949=) c.2844_2846delinsCAG (p.Asn948=) c.2874_2876delinsCAG (p.Asn958=) c.2871_2873delinsCAG (p.Asn957=) n.278_280delinsCAG | |
16 | g.56902500A>C | CA495613402 | SLC12A3 | c.2848A>C (p.Arg950=) c.2845A>C (p.Arg949=) c.2875A>C (p.Arg959=) c.2872A>C (p.Arg958=) n.279A>C | |
16 | g.56902500A>G | CA396001557 | SLC12A3 | c.2848A>G (p.Arg950Gly) c.2845A>G (p.Arg949Gly) c.2875A>G (p.Arg959Gly) c.2872A>G (p.Arg958Gly) n.279A>G | gnomAD v4 |
16 | g.56902500A>T | CA396001559 | SLC12A3 | c.2848A>T (p.Arg950Ter) c.2845A>T (p.Arg949Ter) c.2875A>T (p.Arg959Ter) c.2872A>T (p.Arg958Ter) n.279A>T | gnomAD v4 |
16 | g.56902502_56902503del | CA8070074 | SLC12A3 | c.2850_2851del (p.Arg950SerfsTer11) c.2847_2848del (p.Arg949SerfsTer11) c.2877_2878del (p.Arg959SerfsTer11) c.2874_2875del (p.Arg958SerfsTer11) n.281_282del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902501G>A | CA396001562 | SLC12A3 | c.2849G>A (p.Arg950Lys) c.2846G>A (p.Arg949Lys) c.2876G>A (p.Arg959Lys) c.2873G>A (p.Arg958Lys) n.280G>A | |
16 | g.56902501G>C | CA396001563 | SLC12A3 | c.2849G>C (p.Arg950Thr) c.2846G>C (p.Arg949Thr) c.2876G>C (p.Arg959Thr) c.2873G>C (p.Arg958Thr) n.280G>C | gnomAD v4 |
16 | g.56902501G>T | CA396001565 | SLC12A3 | c.2849G>T (p.Arg950Ile) c.2846G>T (p.Arg949Ile) c.2876G>T (p.Arg959Ile) c.2873G>T (p.Arg958Ile) n.280G>T | gnomAD v4 |
16 | g.56902502A= | CA2224364851 | SLC12A3 | c.2850A= (p.Arg950=) c.2847A= (p.Arg949=) c.2877A= (p.Arg959=) c.2874A= (p.Arg958=) n.281A= | |
16 | g.56902502A>C | CA8070075 | SLC12A3 | c.2850A>C (p.Arg950Ser) c.2847A>C (p.Arg949Ser) c.2877A>C (p.Arg959Ser) c.2874A>C (p.Arg958Ser) n.281A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902502A>G | CA495613404 | SLC12A3 | c.2850A>G (p.Arg950=) c.2847A>G (p.Arg949=) c.2877A>G (p.Arg959=) c.2874A>G (p.Arg958=) n.281A>G | gnomAD v3 gnomAD v4 |
16 | g.56902502A>T | CA396001572 | SLC12A3 | c.2850A>T (p.Arg950Ser) c.2847A>T (p.Arg949Ser) c.2877A>T (p.Arg959Ser) c.2874A>T (p.Arg958Ser) n.281A>T | gnomAD v4 |
16 | g.56902503G>A | CA396001577 | SLC12A3 | c.2851G>A (p.Val951Ile) c.2848G>A (p.Val950Ile) c.2878G>A (p.Val960Ile) c.2875G>A (p.Val959Ile) n.282G>A | |
16 | g.56902503G>C | CA396001576 | SLC12A3 | c.2851G>C (p.Val951Leu) c.2848G>C (p.Val950Leu) c.2878G>C (p.Val960Leu) c.2875G>C (p.Val959Leu) n.282G>C | |
16 | g.56902503G= | CA2224364852 | SLC12A3 | c.2851G= (p.Val951=) c.2848G= (p.Val950=) c.2878G= (p.Val960=) c.2875G= (p.Val959=) n.282G= | |
16 | g.56902503G>T | CA396001574 | SLC12A3 | c.2851G>T (p.Val951Phe) c.2848G>T (p.Val950Phe) c.2878G>T (p.Val960Phe) c.2875G>T (p.Val959Phe) n.282G>T | gnomAD v4 |
16 | g.56902503_56902504insAGGGGTGCACCCTC | CA8070076 | SLC12A3 | c.2851_2852insAGGGGTGCACCCTC (p.Val951GlufsTer12) c.2848_2849insAGGGGTGCACCCTC (p.Val950GlufsTer12) c.2878_2879insAGGGGTGCACCCTC (p.Val960GlufsTer12) c.2875_2876insAGGGGTGCACCCTC (p.Val959GlufsTer12) n.282_283insAGGGGTGCACCCTC | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56902504T>A | CA396001580 | SLC12A3 | c.2852T>A (p.Val951Asp) c.2849T>A (p.Val950Asp) c.2879T>A (p.Val960Asp) c.2876T>A (p.Val959Asp) n.283T>A | gnomAD v3 gnomAD v4 |
16 | g.56902504T>C | CA396001582 | SLC12A3 | c.2852T>C (p.Val951Ala) c.2849T>C (p.Val950Ala) c.2879T>C (p.Val960Ala) c.2876T>C (p.Val959Ala) n.283T>C | gnomAD v3 gnomAD v4 |
16 | g.56902504T>G | CA396001583 | SLC12A3 | c.2852T>G (p.Val951Gly) c.2849T>G (p.Val950Gly) c.2879T>G (p.Val960Gly) c.2876T>G (p.Val959Gly) n.283T>G | gnomAD v3 gnomAD v4 |
16 | g.56902504_56902505del | CA2633375678 | SLC12A3 | c.2852_2853del (p.Val951GlufsTer10) c.2849_2850del (p.Val950GlufsTer10) c.2879_2880del (p.Val960GlufsTer10) c.2876_2877del (p.Val959GlufsTer10) n.283_284del | gnomAD v4 |
16 | g.56902504_56902506del | CA2633375677 | SLC12A3 | c.2852_2854del (p.Val951_Lys952delinsGlu) c.2849_2851del (p.Val950_Lys951delinsGlu) c.2879_2881del (p.Val960_Lys961delinsGlu) c.2876_2878del (p.Val959_Lys960delinsGlu) n.283_285del | gnomAD v4 |
16 | g.56902505C>A | CA495613408 | SLC12A3 | c.2853C>A (p.Val951=) c.2850C>A (p.Val950=) c.2880C>A (p.Val960=) c.2877C>A (p.Val959=) n.284C>A | gnomAD v3 gnomAD v4 |
16 | g.56902505C>G | CA495613409 | SLC12A3 | c.2853C>G (p.Val951=) c.2850C>G (p.Val950=) c.2880C>G (p.Val960=) c.2877C>G (p.Val959=) n.284C>G | gnomAD v3 gnomAD v4 |
16 | g.56902505C>T | CA495613410 | SLC12A3 | c.2853C>T (p.Val951=) c.2850C>T (p.Val950=) c.2880C>T (p.Val960=) c.2877C>T (p.Val959=) n.284C>T | |
16 | g.56902506A>C | CA396001584 | SLC12A3 | c.2854A>C (p.Lys952Gln) c.2851A>C (p.Lys951Gln) c.2881A>C (p.Lys961Gln) c.2878A>C (p.Lys960Gln) n.285A>C | gnomAD v4 |
16 | g.56902506A>G | CA396001586 | SLC12A3 | c.2854A>G (p.Lys952Glu) c.2851A>G (p.Lys951Glu) c.2881A>G (p.Lys961Glu) c.2878A>G (p.Lys960Glu) n.285A>G | gnomAD v3 gnomAD v4 |
16 | g.56902506A>T | CA396001587 | SLC12A3 | c.2854A>T (p.Lys952Ter) c.2851A>T (p.Lys951Ter) c.2881A>T (p.Lys961Ter) c.2878A>T (p.Lys960Ter) n.285A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902507del | CA2633375680 | SLC12A3 | c.2855del (p.Lys952SerfsTer6) c.2852del (p.Lys951SerfsTer6) c.2882del (p.Lys961SerfsTer6) c.2879del (p.Lys960SerfsTer6) n.286del | gnomAD v4 |
16 | g.56902507A= | CA2224364853 | SLC12A3 | c.2855A= (p.Lys952=) c.2852A= (p.Lys951=) c.2882A= (p.Lys961=) c.2879A= (p.Lys960=) n.286A= | |
16 | g.56902507A>C | CA396001589 | SLC12A3 | c.2855A>C (p.Lys952Thr) c.2852A>C (p.Lys951Thr) c.2882A>C (p.Lys961Thr) c.2879A>C (p.Lys960Thr) n.286A>C | gnomAD v4 |
16 | g.56902507A>G | CA396001590 | SLC12A3 | c.2855A>G (p.Lys952Arg) c.2852A>G (p.Lys951Arg) c.2882A>G (p.Lys961Arg) c.2879A>G (p.Lys960Arg) n.286A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902507A>T | CA396001592 | SLC12A3 | c.2855A>T (p.Lys952Met) c.2852A>T (p.Lys951Met) c.2882A>T (p.Lys961Met) c.2879A>T (p.Lys960Met) n.286A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902507_56902508insAG | CA2633375683 | SLC12A3 | c.2855_2856insAG (p.Ser953GlyfsTer6) c.2852_2853insAG (p.Ser952GlyfsTer6) c.2882_2883insAG (p.Ser962GlyfsTer6) c.2879_2880insAG (p.Ser961GlyfsTer6) n.286_287insAG | gnomAD v4 |
16 | g.56902508G>A | CA495613412 | SLC12A3 | c.2856G>A (p.Lys952=) c.2853G>A (p.Lys951=) c.2883G>A (p.Lys961=) c.2880G>A (p.Lys960=) n.287G>A | ClinVar dbSNP gnomAD v4 |
16 | g.56902508G>C | CA396001594 | SLC12A3 | c.2856G>C (p.Lys952Asn) c.2853G>C (p.Lys951Asn) c.2883G>C (p.Lys961Asn) c.2880G>C (p.Lys960Asn) n.287G>C | |
16 | g.56902508G>T | CA396001596 | SLC12A3 | c.2856G>T (p.Lys952Asn) c.2853G>T (p.Lys951Asn) c.2883G>T (p.Lys961Asn) c.2880G>T (p.Lys960Asn) n.287G>T | gnomAD v4 |
16 | g.56902509dup | CA977655763 | SLC12A3 | c.2856+1dup c.2853+1dup c.2883+1dup c.2880+1dup n.287+1dup | gnomAD v3 gnomAD v4 |
16 | g.56902509G>A | CA396001598 | SLC12A3 | c.2856+1G>A (n.2856+1G>A) c.2853+1G>A (n.2853+1G>A) c.2883+1G>A (n.2883+1G>A) c.2880+1G>A (n.2880+1G>A) n.287+1G>A | ClinVar dbSNP |
16 | g.56902509G>C | CA396001603 | SLC12A3 | c.2856+1G>C (n.2856+1G>C) c.2853+1G>C (n.2853+1G>C) c.2883+1G>C (n.2883+1G>C) c.2880+1G>C (n.2880+1G>C) n.287+1G>C | |
16 | g.56902509G= | CA2224364854 | SLC12A3 | c.2856+1G= (n.2856+1G=) c.2853+1G= (n.2853+1G=) c.2883+1G= (n.2883+1G=) c.2880+1G= (n.2880+1G=) n.287+1G= | |
16 | g.56902509G>T | CA8070077 | SLC12A3 | c.2856+1G>T (n.2856+1G>T) c.2853+1G>T (n.2853+1G>T) c.2883+1G>T (n.2883+1G>T) c.2880+1G>T (n.2880+1G>T) n.287+1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902510del | CA2633375686 | SLC12A3 | c.2856+2del (n.2856+2del) c.2853+2del (n.2853+2del) c.2883+2del (n.2883+2del) c.2880+2del (n.2880+2del) n.287+2del | gnomAD v4 |
16 | g.56902510T>A | CA396001606 | SLC12A3 | c.2856+2T>A (n.2856+2T>A) c.2853+2T>A (n.2853+2T>A) c.2883+2T>A (n.2883+2T>A) c.2880+2T>A (n.2880+2T>A) n.287+2T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902510T>C | CA396001612 | SLC12A3 | c.2856+2T>C (n.2856+2T>C) c.2853+2T>C (n.2853+2T>C) c.2883+2T>C (n.2883+2T>C) c.2880+2T>C (n.2880+2T>C) n.287+2T>C | |
16 | g.56902510T>G | CA396001609 | SLC12A3 | c.2856+2T>G (n.2856+2T>G) c.2853+2T>G (n.2853+2T>G) c.2883+2T>G (n.2883+2T>G) c.2880+2T>G (n.2880+2T>G) n.287+2T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902510T= | CA2224364855 | SLC12A3 | c.2856+2T= (n.2856+2T=) c.2853+2T= (n.2853+2T=) c.2883+2T= (n.2883+2T=) c.2880+2T= (n.2880+2T=) n.287+2T= | |
16 | g.56902510_56902512del | CA2633375685 | SLC12A3 | c.2856+2_2856+4del (n.2856+2_2856+4del) c.2853+2_2853+4del (n.2853+2_2853+4del) c.2883+2_2883+4del (n.2883+2_2883+4del) c.2880+2_2880+4del (n.2880+2_2880+4del) n.287+2_287+4del | gnomAD v4 |
16 | g.56902510_56902515del | CA977655771 | SLC12A3 | c.2856+2_2856+7del (n.2856+2_2856+7del) c.2853+2_2853+7del (n.2853+2_2853+7del) c.2883+2_2883+7del (n.2883+2_2883+7del) c.2880+2_2880+7del (n.2880+2_2880+7del) n.287+2_287+7del | gnomAD v3 gnomAD v4 |
16 | g.56902511G>A | CA721949574 | SLC12A3 | c.2856+3G>A (n.2856+3G>A) c.2853+3G>A (n.2853+3G>A) c.2883+3G>A (n.2883+3G>A) c.2880+3G>A (n.2880+3G>A) n.287+3G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902511G= | CA2224364857 | SLC12A3 | c.2856+3G= (n.2856+3G=) c.2853+3G= (n.2853+3G=) c.2883+3G= (n.2883+3G=) c.2880+3G= (n.2880+3G=) n.287+3G= | |
16 | g.56902511G>T | CA2633375688 | SLC12A3 | c.2856+3G>T (n.2856+3G>T) c.2853+3G>T (n.2853+3G>T) c.2883+3G>T (n.2883+3G>T) c.2880+3G>T (n.2880+3G>T) n.287+3G>T | gnomAD v4 |
16 | g.56902511_56902513delinsGCA | CA2224364856 | SLC12A3 | c.2856+3_2856+5delinsGCA (n.2856+3_2856+5delinsGCA) c.2853+3_2853+5delinsGCA (n.2853+3_2853+5delinsGCA) c.2883+3_2883+5delinsGCA (n.2883+3_2883+5delinsGCA) c.2880+3_2880+5delinsGCA (n.2880+3_2880+5delinsGCA) n.287+3_287+5delinsGCA | |
16 | g.56902512_56902516del | CA2807160637 | SLC12A3 | c.2856+4_2856+8del (n.2856+4_2856+8del) c.2853+4_2853+8del (n.2853+4_2853+8del) c.2883+4_2883+8del (n.2883+4_2883+8del) c.2880+4_2880+8del (n.2880+4_2880+8del) n.287+4_287+8del | |
16 | g.56902512del | CA2529796070 | SLC12A3 | c.2856+4del (n.2856+4del) c.2853+4del (n.2853+4del) c.2883+4del (n.2883+4del) c.2880+4del (n.2880+4del) n.287+4del | gnomAD v4 |
16 | g.56902512C>A | CA622341853 | SLC12A3 | c.2856+4C>A (n.2856+4C>A) c.2853+4C>A (n.2853+4C>A) c.2883+4C>A (n.2883+4C>A) c.2880+4C>A (n.2880+4C>A) n.287+4C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902512C= | CA2224364858 | SLC12A3 | c.2856+4C= (n.2856+4C=) c.2853+4C= (n.2853+4C=) c.2883+4C= (n.2883+4C=) c.2880+4C= (n.2880+4C=) n.287+4C= | |
16 | g.56902512C>G | CA622341856 | SLC12A3 | c.2856+4C>G (n.2856+4C>G) c.2853+4C>G (n.2853+4C>G) c.2883+4C>G (n.2883+4C>G) c.2880+4C>G (n.2880+4C>G) n.287+4C>G | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902512C>T | CA977655776 | SLC12A3 | c.2856+4C>T (n.2856+4C>T) c.2853+4C>T (n.2853+4C>T) c.2883+4C>T (n.2883+4C>T) c.2880+4C>T (n.2880+4C>T) n.287+4C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902512_56902513del | CA622341852 | SLC12A3 | c.2856+4_2856+5del (n.2856+4_2856+5del) c.2853+4_2853+5del (n.2853+4_2853+5del) c.2883+4_2883+5del (n.2883+4_2883+5del) c.2880+4_2880+5del (n.2880+4_2880+5del) n.287+4_287+5del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902512_56902515del | CA2633375690 | SLC12A3 | c.2856+4_2856+7del (n.2856+4_2856+7del) c.2853+4_2853+7del (n.2853+4_2853+7del) c.2883+4_2883+7del (n.2883+4_2883+7del) c.2880+4_2880+7del (n.2880+4_2880+7del) n.287+4_287+7del | gnomAD v4 |
16 | g.56902512_56902517del | CA2633375689 | SLC12A3 | c.2856+4_2856+9del (n.2856+4_2856+9del) c.2853+4_2853+9del (n.2853+4_2853+9del) c.2883+4_2883+9del (n.2883+4_2883+9del) c.2880+4_2880+9del (n.2880+4_2880+9del) n.287+4_287+9del | gnomAD v4 |
16 | g.56902513del | CA622341860 | SLC12A3 | c.2856+5del (n.2856+5del) c.2853+5del (n.2853+5del) c.2883+5del (n.2883+5del) c.2880+5del (n.2880+5del) n.287+5del | gnomAD v2 gnomAD v4 |
16 | g.56902513A= | CA2224364859 | SLC12A3 | c.2856+5A= (n.2856+5A=) c.2853+5A= (n.2853+5A=) c.2883+5A= (n.2883+5A=) c.2880+5A= (n.2880+5A=) n.287+5A= | |
16 | g.56902513A>C | CA721949580 | SLC12A3 | c.2856+5A>C (n.2856+5A>C) c.2853+5A>C (n.2853+5A>C) c.2883+5A>C (n.2883+5A>C) c.2880+5A>C (n.2880+5A>C) n.287+5A>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902513A>G | CA622341861 | SLC12A3 | c.2856+5A>G (n.2856+5A>G) c.2853+5A>G (n.2853+5A>G) c.2883+5A>G (n.2883+5A>G) c.2880+5A>G (n.2880+5A>G) n.287+5A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902513A>T | CA977655780 | SLC12A3 | c.2856+5A>T (n.2856+5A>T) c.2853+5A>T (n.2853+5A>T) c.2883+5A>T (n.2883+5A>T) c.2880+5A>T (n.2880+5A>T) n.287+5A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902514G>A | CA622341865 | SLC12A3 | c.2856+6G>A (n.2856+6G>A) c.2853+6G>A (n.2853+6G>A) c.2883+6G>A (n.2883+6G>A) c.2880+6G>A (n.2880+6G>A) n.287+6G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902514G= | CA2224364860 | SLC12A3 | c.2856+6G= (n.2856+6G=) c.2853+6G= (n.2853+6G=) c.2883+6G= (n.2883+6G=) c.2880+6G= (n.2880+6G=) n.287+6G= | |
16 | g.56902514G>T | CA2633375696 | SLC12A3 | c.2856+6G>T (n.2856+6G>T) c.2853+6G>T (n.2853+6G>T) c.2883+6G>T (n.2883+6G>T) c.2880+6G>T (n.2880+6G>T) n.287+6G>T | gnomAD v4 |
16 | g.56902514_56902515insGG | CA977655792 | SLC12A3 | c.2856+6_2856+7insGG (n.2856+6_2856+7insGG) c.2853+6_2853+7insGG (n.2853+6_2853+7insGG) c.2883+6_2883+7insGG (n.2883+6_2883+7insGG) c.2880+6_2880+7insGG (n.2880+6_2880+7insGG) n.287+6_287+7insGG | gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGG | CA2633375697 | SLC12A3 | c.2856+6_2856+7insGGGG (n.2856+6_2856+7insGGGG) c.2853+6_2853+7insGGGG (n.2853+6_2853+7insGGGG) c.2883+6_2883+7insGGGG (n.2883+6_2883+7insGGGG) c.2880+6_2880+7insGGGG (n.2880+6_2880+7insGGGG) n.287+6_287+7insGGGG | gnomAD v4 |
16 | g.56902514_56902515insGGGGG | CA977655790 | SLC12A3 | c.2856+6_2856+7insGGGGG (n.2856+6_2856+7insGGGGG) c.2853+6_2853+7insGGGGG (n.2853+6_2853+7insGGGGG) c.2883+6_2883+7insGGGGG (n.2883+6_2883+7insGGGGG) c.2880+6_2880+7insGGGGG (n.2880+6_2880+7insGGGGG) n.287+6_287+7insGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGGGG | CA622341864 | SLC12A3 | c.2856+6_2856+7insGGGGGG (n.2856+6_2856+7insGGGGGG) c.2853+6_2853+7insGGGGGG (n.2853+6_2853+7insGGGGGG) c.2883+6_2883+7insGGGGGG (n.2883+6_2883+7insGGGGGG) c.2880+6_2880+7insGGGGGG (n.2880+6_2880+7insGGGGGG) n.287+6_287+7insGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGGGGG | CA977655788 | SLC12A3 | c.2856+6_2856+7insGGGGGGG (n.2856+6_2856+7insGGGGGGG) c.2853+6_2853+7insGGGGGGG (n.2853+6_2853+7insGGGGGGG) c.2883+6_2883+7insGGGGGGG (n.2883+6_2883+7insGGGGGGG) c.2880+6_2880+7insGGGGGGG (n.2880+6_2880+7insGGGGGGG) n.287+6_287+7insGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGGGGGG | CA977655786 | SLC12A3 | c.2856+6_2856+7insGGGGGGGG (n.2856+6_2856+7insGGGGGGGG) c.2853+6_2853+7insGGGGGGGG (n.2853+6_2853+7insGGGGGGGG) c.2883+6_2883+7insGGGGGGGG (n.2883+6_2883+7insGGGGGGGG) c.2880+6_2880+7insGGGGGGGG (n.2880+6_2880+7insGGGGGGGG) n.287+6_287+7insGGGGGGGG | |
16 | g.56902514_56902515insGGGGGGGGGG | CA2633375698 | SLC12A3 | c.2856+6_2856+7insGGGGGGGGGG (n.2856+6_2856+7insGGGGGGGGGG) c.2853+6_2853+7insGGGGGGGGGG (n.2853+6_2853+7insGGGGGGGGGG) c.2883+6_2883+7insGGGGGGGGGG (n.2883+6_2883+7insGGGGGGGGGG) c.2880+6_2880+7insGGGGGGGGGG (n.2880+6_2880+7insGGGGGGGGGG) n.287+6_287+7insGGGGGGGGGG | gnomAD v4 |
16 | g.56902515del | CA2633375703 | SLC12A3 | c.2856+7del (n.2856+7del) c.2853+7del (n.2853+7del) c.2883+7del (n.2883+7del) c.2880+7del (n.2880+7del) n.287+7del | gnomAD v4 |
16 | g.56902515A= | CA2224364861 | SLC12A3 | c.2856+7A= (n.2856+7A=) c.2853+7A= (n.2853+7A=) c.2883+7A= (n.2883+7A=) c.2880+7A= (n.2880+7A=) n.287+7A= | |
16 | g.56902515A>C | CA2633375702 | SLC12A3 | c.2856+7A>C (n.2856+7A>C) c.2853+7A>C (n.2853+7A>C) c.2883+7A>C (n.2883+7A>C) c.2880+7A>C (n.2880+7A>C) n.287+7A>C | gnomAD v4 |
16 | g.56902515A>G | CA622341867 | SLC12A3 | c.2856+7A>G (n.2856+7A>G) c.2853+7A>G (n.2853+7A>G) c.2883+7A>G (n.2883+7A>G) c.2880+7A>G (n.2880+7A>G) n.287+7A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902515A>T | CA977655797 | SLC12A3 | c.2856+7A>T (n.2856+7A>T) c.2853+7A>T (n.2853+7A>T) c.2883+7A>T (n.2883+7A>T) c.2880+7A>T (n.2880+7A>T) n.287+7A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902515_56902517del | CA2633375704 | SLC12A3 | c.2856+7_2856+9del (n.2856+7_2856+9del) c.2853+7_2853+9del (n.2853+7_2853+9del) c.2883+7_2883+9del (n.2883+7_2883+9del) c.2880+7_2880+9del (n.2880+7_2880+9del) n.287+7_287+9del | gnomAD v4 |
16 | g.56902515_56902516insAGG | CA2633375715 | SLC12A3 | c.2856+7_2856+8insAGG (n.2856+7_2856+8insAGG) c.2853+7_2853+8insAGG (n.2853+7_2853+8insAGG) c.2883+7_2883+8insAGG (n.2883+7_2883+8insAGG) c.2880+7_2880+8insAGG (n.2880+7_2880+8insAGG) n.287+7_287+8insAGG | gnomAD v4 |
16 | g.56902515_56902516insCAGGG | CA2633375708 | SLC12A3 | c.2856+7_2856+8insCAGGG (n.2856+7_2856+8insCAGGG) c.2853+7_2853+8insCAGGG (n.2853+7_2853+8insCAGGG) c.2883+7_2883+8insCAGGG (n.2883+7_2883+8insCAGGG) c.2880+7_2880+8insCAGGG (n.2880+7_2880+8insCAGGG) n.287+7_287+8insCAGGG | gnomAD v4 |
16 | g.56902515_56902516insAGGGGGG | CA2633375710 | SLC12A3 | c.2856+7_2856+8insAGGGGGG (n.2856+7_2856+8insAGGGGGG) c.2853+7_2853+8insAGGGGGG (n.2853+7_2853+8insAGGGGGG) c.2883+7_2883+8insAGGGGGG (n.2883+7_2883+8insAGGGGGG) c.2880+7_2880+8insAGGGGGG (n.2880+7_2880+8insAGGGGGG) n.287+7_287+8insAGGGGGG | gnomAD v4 |
16 | g.56902516G>A | CA2838351120 | SLC12A3 | c.2856+8G>A (n.2856+8G>A) c.2853+8G>A (n.2853+8G>A) c.2883+8G>A (n.2883+8G>A) c.2880+8G>A (n.2880+8G>A) n.287+8G>A | |
16 | g.56902516G>T | CA2633375711 | SLC12A3 | c.2856+8G>T (n.2856+8G>T) c.2853+8G>T (n.2853+8G>T) c.2883+8G>T (n.2883+8G>T) c.2880+8G>T (n.2880+8G>T) n.287+8G>T | gnomAD v4 |
16 | g.56902516_56902517insGG | CA622341874 | SLC12A3 | c.2856+8_2856+9insGG (n.2856+8_2856+9insGG) c.2853+8_2853+9insGG (n.2853+8_2853+9insGG) c.2883+8_2883+9insGG (n.2883+8_2883+9insGG) c.2880+8_2880+9insGG (n.2880+8_2880+9insGG) n.287+8_287+9insGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insGGG | CA2633375726 | SLC12A3 | c.2856+8_2856+9insGGG (n.2856+8_2856+9insGGG) c.2853+8_2853+9insGGG (n.2853+8_2853+9insGGG) c.2883+8_2883+9insGGG (n.2883+8_2883+9insGGG) c.2880+8_2880+9insGGG (n.2880+8_2880+9insGGG) n.287+8_287+9insGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGG | CA622341877 | SLC12A3 | c.2856+8_2856+9insGGGG (n.2856+8_2856+9insGGGG) c.2853+8_2853+9insGGGG (n.2853+8_2853+9insGGGG) c.2883+8_2883+9insGGGG (n.2883+8_2883+9insGGGG) c.2880+8_2880+9insGGGG (n.2880+8_2880+9insGGGG) n.287+8_287+9insGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insCGGGG | CA2633375723 | SLC12A3 | c.2856+8_2856+9insCGGGG (n.2856+8_2856+9insCGGGG) c.2853+8_2853+9insCGGGG (n.2853+8_2853+9insCGGGG) c.2883+8_2883+9insCGGGG (n.2883+8_2883+9insCGGGG) c.2880+8_2880+9insCGGGG (n.2880+8_2880+9insCGGGG) n.287+8_287+9insCGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGG | CA2633375728 | SLC12A3 | c.2856+8_2856+9insGGGGG (n.2856+8_2856+9insGGGGG) c.2853+8_2853+9insGGGGG (n.2853+8_2853+9insGGGGG) c.2883+8_2883+9insGGGGG (n.2883+8_2883+9insGGGGG) c.2880+8_2880+9insGGGGG (n.2880+8_2880+9insGGGGG) n.287+8_287+9insGGGGG | gnomAD v4 |
16 | g.56902516_56902517insCGGGGG | CA2633375725 | SLC12A3 | c.2856+8_2856+9insCGGGGG (n.2856+8_2856+9insCGGGGG) c.2853+8_2853+9insCGGGGG (n.2853+8_2853+9insCGGGGG) c.2883+8_2883+9insCGGGGG (n.2883+8_2883+9insCGGGGG) c.2880+8_2880+9insCGGGGG (n.2880+8_2880+9insCGGGGG) n.287+8_287+9insCGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGG | CA622341869 | SLC12A3 | c.2856+8_2856+9insGGGGGG (n.2856+8_2856+9insGGGGGG) c.2853+8_2853+9insGGGGGG (n.2853+8_2853+9insGGGGGG) c.2883+8_2883+9insGGGGGG (n.2883+8_2883+9insGGGGGG) c.2880+8_2880+9insGGGGGG (n.2880+8_2880+9insGGGGGG) n.287+8_287+9insGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insGGGGGGG | CA2633375722 | SLC12A3 | c.2856+8_2856+9insGGGGGGG (n.2856+8_2856+9insGGGGGGG) c.2853+8_2853+9insGGGGGGG (n.2853+8_2853+9insGGGGGGG) c.2883+8_2883+9insGGGGGGG (n.2883+8_2883+9insGGGGGGG) c.2880+8_2880+9insGGGGGGG (n.2880+8_2880+9insGGGGGGG) n.287+8_287+9insGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGG | CA622341871 | SLC12A3 | c.2856+8_2856+9insGGGGGGGG (n.2856+8_2856+9insGGGGGGGG) c.2853+8_2853+9insGGGGGGGG (n.2853+8_2853+9insGGGGGGGG) c.2883+8_2883+9insGGGGGGGG (n.2883+8_2883+9insGGGGGGGG) c.2880+8_2880+9insGGGGGGGG (n.2880+8_2880+9insGGGGGGGG) n.287+8_287+9insGGGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGG | CA622341868 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGG) n.287+8_287+9insGGGGGGGGG | gnomAD v2 gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGGG | CA2633375720 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGG) n.287+8_287+9insGGGGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGGGG | CA2633375718 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGGG) n.287+8_287+9insGGGGGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGGGGG | CA2633375716 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGGGG) n.287+8_287+9insGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517delinsGA | CA2224364862 | SLC12A3 | c.2856+8_2856+9delinsGA (n.2856+8_2856+9delinsGA) c.2853+8_2853+9delinsGA (n.2853+8_2853+9delinsGA) c.2883+8_2883+9delinsGA (n.2883+8_2883+9delinsGA) c.2880+8_2880+9delinsGA (n.2880+8_2880+9delinsGA) n.287+8_287+9delinsGA | |
16 | g.56902517del | CA622341879 | SLC12A3 | c.2856+9del (n.2856+9del) c.2853+9del (n.2853+9del) c.2883+9del (n.2883+9del) c.2880+9del (n.2880+9del) n.287+9del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902517A= | CA2224364863 | SLC12A3 | c.2856+9A= (n.2856+9A=) c.2853+9A= (n.2853+9A=) c.2883+9A= (n.2883+9A=) c.2880+9A= (n.2880+9A=) n.287+9A= | |
16 | g.56902517A>C | CA2633375732 | SLC12A3 | c.2856+9A>C (n.2856+9A>C) c.2853+9A>C (n.2853+9A>C) c.2883+9A>C (n.2883+9A>C) c.2880+9A>C (n.2880+9A>C) n.287+9A>C | gnomAD v4 |
16 | g.56902517A>G | CA8070078 | SLC12A3 | c.2856+9A>G (n.2856+9A>G) c.2853+9A>G (n.2853+9A>G) c.2883+9A>G (n.2883+9A>G) c.2880+9A>G (n.2880+9A>G) n.287+9A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902517A>T | CA915949277 | SLC12A3 | c.2856+9A>T (n.2856+9A>T) c.2853+9A>T (n.2853+9A>T) c.2883+9A>T (n.2883+9A>T) c.2880+9A>T (n.2880+9A>T) n.287+9A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902517_56902518insTGGGGG | CA2807160638 | SLC12A3 | c.2856+9_2856+10insTGGGGG (n.2856+9_2856+10insTGGGGG) c.2853+9_2853+10insTGGGGG (n.2853+9_2853+10insTGGGGG) c.2883+9_2883+10insTGGGGG (n.2883+9_2883+10insTGGGGG) c.2880+9_2880+10insTGGGGG (n.2880+9_2880+10insTGGGGG) n.287+9_287+10insTGGGGG | |
16 | g.56902517_56902518insAGGGGGGGGGGG | CA2633375806 | SLC12A3 | c.2856+9_2856+10insAGGGGGGGGGGG (n.2856+9_2856+10insAGGGGGGGGGGG) c.2853+9_2853+10insAGGGGGGGGGGG (n.2853+9_2853+10insAGGGGGGGGGGG) c.2883+9_2883+10insAGGGGGGGGGGG (n.2883+9_2883+10insAGGGGGGGGGGG) c.2880+9_2880+10insAGGGGGGGGGGG (n.2880+9_2880+10insAGGGGGGGGGGG) n.287+9_287+10insAGGGGGGGGGGG | gnomAD v4 |
16 | g.56902518G>T | CA2633375800 | SLC12A3 | c.2856+10G>T (n.2856+10G>T) c.2853+10G>T (n.2853+10G>T) c.2883+10G>T (n.2883+10G>T) c.2880+10G>T (n.2880+10G>T) n.287+10G>T | gnomAD v4 |
16 | g.56902518_56902519insAGGGGG | CA977655811 | SLC12A3 | c.2856+10_2856+11insAGGGGG (n.2856+10_2856+11insAGGGGG) c.2853+10_2853+11insAGGGGG (n.2853+10_2853+11insAGGGGG) c.2883+10_2883+11insAGGGGG (n.2883+10_2883+11insAGGGGG) c.2880+10_2880+11insAGGGGG (n.2880+10_2880+11insAGGGGG) n.287+10_287+11insAGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902520_56902521insAGGGGG | CA2633375804 | SLC12A3 | c.2856+12_2856+13insAGGGGG (n.2856+12_2856+13insAGGGGG) c.2853+12_2853+13insAGGGGG (n.2853+12_2853+13insAGGGGG) c.2883+12_2883+13insAGGGGG (n.2883+12_2883+13insAGGGGG) c.2880+12_2880+13insAGGGGG (n.2880+12_2880+13insAGGGGG) n.287+12_287+13insAGGGGG | gnomAD v4 |
16 | g.56902520_56902521insTGAAGGGGGGG | CA2633375791 | SLC12A3 | c.2856+12_2856+13insTGAAGGGGGGG (n.2856+12_2856+13insTGAAGGGGGGG) c.2853+12_2853+13insTGAAGGGGGGG (n.2853+12_2853+13insTGAAGGGGGGG) c.2883+12_2883+13insTGAAGGGGGGG (n.2883+12_2883+13insTGAAGGGGGGG) c.2880+12_2880+13insTGAAGGGGGGG (n.2880+12_2880+13insTGAAGGGGGGG) n.287+12_287+13insTGAAGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGG | CA977655817 | SLC12A3 | c.2856+13_2856+14insGGGGG (n.2856+13_2856+14insGGGGG) c.2853+13_2853+14insGGGGG (n.2853+13_2853+14insGGGGG) c.2883+13_2883+14insGGGGG (n.2883+13_2883+14insGGGGG) c.2880+13_2880+14insGGGGG (n.2880+13_2880+14insGGGGG) n.287+13_287+14insGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGGGGGG | CA622341882 | SLC12A3 | c.2856+13_2856+14insGGGGGG (n.2856+13_2856+14insGGGGGG) c.2853+13_2853+14insGGGGGG (n.2853+13_2853+14insGGGGGG) c.2883+13_2883+14insGGGGGG (n.2883+13_2883+14insGGGGGG) c.2880+13_2880+14insGGGGGG (n.2880+13_2880+14insGGGGGG) n.287+13_287+14insGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insAGGGGGG | CA977655829 | SLC12A3 | c.2856+13_2856+14insAGGGGGG (n.2856+13_2856+14insAGGGGGG) c.2853+13_2853+14insAGGGGGG (n.2853+13_2853+14insAGGGGGG) c.2883+13_2883+14insAGGGGGG (n.2883+13_2883+14insAGGGGGG) c.2880+13_2880+14insAGGGGGG (n.2880+13_2880+14insAGGGGGG) n.287+13_287+14insAGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGGGGGGG | CA977655815 | SLC12A3 | c.2856+13_2856+14insGGGGGGG (n.2856+13_2856+14insGGGGGGG) c.2853+13_2853+14insGGGGGGG (n.2853+13_2853+14insGGGGGGG) c.2883+13_2883+14insGGGGGGG (n.2883+13_2883+14insGGGGGGG) c.2880+13_2880+14insGGGGGGG (n.2880+13_2880+14insGGGGGGG) n.287+13_287+14insGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGG | CA919713949 | SLC12A3 | c.2856+13_2856+14insGGGGGGGG (n.2856+13_2856+14insGGGGGGGG) c.2853+13_2853+14insGGGGGGGG (n.2853+13_2853+14insGGGGGGGG) c.2883+13_2883+14insGGGGGGGG (n.2883+13_2883+14insGGGGGGGG) c.2880+13_2880+14insGGGGGGGG (n.2880+13_2880+14insGGGGGGGG) n.287+13_287+14insGGGGGGGG | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGG | CA977655827 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGG (n.2856+13_2856+14insAGGGGGGGG) c.2853+13_2853+14insAGGGGGGGG (n.2853+13_2853+14insAGGGGGGGG) c.2883+13_2883+14insAGGGGGGGG (n.2883+13_2883+14insAGGGGGGGG) c.2880+13_2880+14insAGGGGGGGG (n.2880+13_2880+14insAGGGGGGGG) n.287+13_287+14insAGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insCGGGGGGGG | CA977655820 | SLC12A3 | c.2856+13_2856+14insCGGGGGGGG (n.2856+13_2856+14insCGGGGGGGG) c.2853+13_2853+14insCGGGGGGGG (n.2853+13_2853+14insCGGGGGGGG) c.2883+13_2883+14insCGGGGGGGG (n.2883+13_2883+14insCGGGGGGGG) c.2880+13_2880+14insCGGGGGGGG (n.2880+13_2880+14insCGGGGGGGG) n.287+13_287+14insCGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGG | CA2633375762 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGG) n.287+13_287+14insGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGGG | CA977655826 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGG) c.2853+13_2853+14insAGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGG) c.2883+13_2883+14insAGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGG) c.2880+13_2880+14insAGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGG) n.287+13_287+14insAGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insCGGGGGGGGG | CA977655832 | SLC12A3 | c.2856+13_2856+14insCGGGGGGGGG (n.2856+13_2856+14insCGGGGGGGGG) c.2853+13_2853+14insCGGGGGGGGG (n.2853+13_2853+14insCGGGGGGGGG) c.2883+13_2883+14insCGGGGGGGGG (n.2883+13_2883+14insCGGGGGGGGG) c.2880+13_2880+14insCGGGGGGGGG (n.2880+13_2880+14insCGGGGGGGGG) n.287+13_287+14insCGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGAGGGGGGGG | CA2633375811 | SLC12A3 | c.2856+13_2856+14insGAGGGGGGGG (n.2856+13_2856+14insGAGGGGGGGG) c.2853+13_2853+14insGAGGGGGGGG (n.2853+13_2853+14insGAGGGGGGGG) c.2883+13_2883+14insGAGGGGGGGG (n.2883+13_2883+14insGAGGGGGGGG) c.2880+13_2880+14insGAGGGGGGGG (n.2880+13_2880+14insGAGGGGGGGG) n.287+13_287+14insGAGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGG | CA622341884 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGGGG | CA2572650933 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGG) c.2853+13_2853+14insAGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGG) c.2883+13_2883+14insAGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGG) c.2880+13_2880+14insAGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGG) n.287+13_287+14insAGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGCAGGGGGGGG | CA2633375812 | SLC12A3 | c.2856+13_2856+14insGCAGGGGGGGG (n.2856+13_2856+14insGCAGGGGGGGG) c.2853+13_2853+14insGCAGGGGGGGG (n.2853+13_2853+14insGCAGGGGGGGG) c.2883+13_2883+14insGCAGGGGGGGG (n.2883+13_2883+14insGCAGGGGGGGG) c.2880+13_2880+14insGCAGGGGGGGG (n.2880+13_2880+14insGCAGGGGGGGG) n.287+13_287+14insGCAGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGAGGGGGGGG | CA2633375815 | SLC12A3 | c.2856+13_2856+14insGGAGGGGGGGG (n.2856+13_2856+14insGGAGGGGGGGG) c.2853+13_2853+14insGGAGGGGGGGG (n.2853+13_2853+14insGGAGGGGGGGG) c.2883+13_2883+14insGGAGGGGGGGG (n.2883+13_2883+14insGGAGGGGGGGG) c.2880+13_2880+14insGGAGGGGGGGG (n.2880+13_2880+14insGGAGGGGGGGG) n.287+13_287+14insGGAGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGAGGGGGG | CA2633375767 | SLC12A3 | c.2856+13_2856+14insGGGGAGGGGGG (n.2856+13_2856+14insGGGGAGGGGGG) c.2853+13_2853+14insGGGGAGGGGGG (n.2853+13_2853+14insGGGGAGGGGGG) c.2883+13_2883+14insGGGGAGGGGGG (n.2883+13_2883+14insGGGGAGGGGGG) c.2880+13_2880+14insGGGGAGGGGGG (n.2880+13_2880+14insGGGGAGGGGGG) n.287+13_287+14insGGGGAGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGG | CA977655812 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGGGGG | CA2633375808 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGG) c.2853+13_2853+14insAGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGG) c.2883+13_2883+14insAGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGG) c.2880+13_2880+14insAGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGG) n.287+13_287+14insAGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGAGGGGGGGG | CA2633375803 | SLC12A3 | c.2856+13_2856+14insGGGAGGGGGGGG (n.2856+13_2856+14insGGGAGGGGGGGG) c.2853+13_2853+14insGGGAGGGGGGGG (n.2853+13_2853+14insGGGAGGGGGGGG) c.2883+13_2883+14insGGGAGGGGGGGG (n.2883+13_2883+14insGGGAGGGGGGGG) c.2880+13_2880+14insGGGAGGGGGGGG (n.2880+13_2880+14insGGGAGGGGGGGG) n.287+13_287+14insGGGAGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGGG | CA2633375759 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGGGGGG | CA977655825 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGG) c.2853+13_2853+14insAGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGG) c.2883+13_2883+14insAGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGG) c.2880+13_2880+14insAGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGG) n.287+13_287+14insAGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGGGGAGGGGGGGG | CA2633375765 | SLC12A3 | c.2856+13_2856+14insGGGGAGGGGGGGG (n.2856+13_2856+14insGGGGAGGGGGGGG) c.2853+13_2853+14insGGGGAGGGGGGGG (n.2853+13_2853+14insGGGGAGGGGGGGG) c.2883+13_2883+14insGGGGAGGGGGGGG (n.2883+13_2883+14insGGGGAGGGGGGGG) c.2880+13_2880+14insGGGGAGGGGGGGG (n.2880+13_2880+14insGGGGAGGGGGGGG) n.287+13_287+14insGGGGAGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGGGG | CA2633375757 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGGGGGGG | CA2633375809 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGGG) c.2853+13_2853+14insAGGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGGG) c.2883+13_2883+14insAGGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGGG) c.2880+13_2880+14insAGGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGGG) n.287+13_287+14insAGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGGGGG | CA2633375753 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGGGGGGGG | CA977655824 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGGGG) c.2853+13_2853+14insAGGGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGGGG) c.2883+13_2883+14insAGGGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGGGG) c.2880+13_2880+14insAGGGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGGGG) n.287+13_287+14insAGGGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGGGGGG | CA2633375771 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insAGGGGGGGGGGGGGGG | CA977655823 | SLC12A3 | c.2856+13_2856+14insAGGGGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGGGGG) c.2853+13_2853+14insAGGGGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGGGGG) c.2883+13_2883+14insAGGGGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGGGGG) c.2880+13_2880+14insAGGGGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGGGGG) n.287+13_287+14insAGGGGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGGGGGGG | CA2633375772 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGGGGGGGG | CA2633375788 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902521_56902522insGGGGGGGGGGGGGGGGGG | CA2633375789 | SLC12A3 | c.2856+13_2856+14insGGGGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGGGGG) c.2853+13_2853+14insGGGGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGGGGG) c.2883+13_2883+14insGGGGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGGGGG) c.2880+13_2880+14insGGGGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGGGGG) n.287+13_287+14insGGGGGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902520_56902521dup | CA8070079 | SLC12A3 | c.2856+12_2856+13dup (n.2856+12_2856+13dup) c.2853+12_2853+13dup (n.2853+12_2853+13dup) c.2883+12_2883+13dup (n.2883+12_2883+13dup) c.2880+12_2880+13dup (n.2880+12_2880+13dup) n.287+12_287+13dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902519_56902521dup | CA977655810 | SLC12A3 | c.2856+11_2856+13dup (n.2856+11_2856+13dup) c.2853+11_2853+13dup (n.2853+11_2853+13dup) c.2883+11_2883+13dup (n.2883+11_2883+13dup) c.2880+11_2880+13dup (n.2880+11_2880+13dup) n.287+11_287+13dup | gnomAD v3 gnomAD v4 |
16 | g.56902518_56902521dup | CA919713948 | SLC12A3 | c.2856+10_2856+13dup (n.2856+10_2856+13dup) c.2853+10_2853+13dup (n.2853+10_2853+13dup) c.2883+10_2883+13dup (n.2883+10_2883+13dup) c.2880+10_2880+13dup (n.2880+10_2880+13dup) n.287+10_287+13dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902521del | CA2633375793 | SLC12A3 | c.2856+13del (n.2856+13del) c.2853+13del (n.2853+13del) c.2883+13del (n.2883+13del) c.2880+13del (n.2880+13del) n.287+13del | gnomAD v4 |
16 | g.56902522_56902526del | CA2633375795 | SLC12A3 | c.2856+14_2856+18del (n.2856+14_2856+18del) c.2853+14_2853+18del (n.2853+14_2853+18del) c.2883+14_2883+18del (n.2883+14_2883+18del) c.2880+14_2880+18del (n.2880+14_2880+18del) n.287+14_287+18del | gnomAD v4 |
16 | g.56902526_56902531del | CA2502542180 | SLC12A3 | c.2856+18_2856+23del (n.2856+18_2856+23del) c.2853+18_2853+23del (n.2853+18_2853+23del) c.2883+18_2883+23del (n.2883+18_2883+23del) c.2880+18_2880+23del (n.2880+18_2880+23del) n.287+18_287+23del | gnomAD v4 |
16 | g.56902519G>A | CA721949608 | SLC12A3 | c.2856+11G>A (n.2856+11G>A) c.2853+11G>A (n.2853+11G>A) c.2883+11G>A (n.2883+11G>A) c.2880+11G>A (n.2880+11G>A) n.287+11G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902519G= | CA2224364864 | SLC12A3 | c.2856+11G= (n.2856+11G=) c.2853+11G= (n.2853+11G=) c.2883+11G= (n.2883+11G=) c.2880+11G= (n.2880+11G=) n.287+11G= | |
16 | g.56902519G>T | CA2633375824 | SLC12A3 | c.2856+11G>T (n.2856+11G>T) c.2853+11G>T (n.2853+11G>T) c.2883+11G>T (n.2883+11G>T) c.2880+11G>T (n.2880+11G>T) n.287+11G>T | ClinVar gnomAD v4 |
16 | g.56902520G>A | CA721949610 | SLC12A3 | c.2856+12G>A (n.2856+12G>A) c.2853+12G>A (n.2853+12G>A) c.2883+12G>A (n.2883+12G>A) c.2880+12G>A (n.2880+12G>A) n.287+12G>A | ClinVar dbSNP gnomAD v4 |
16 | g.56902520G= | CA2224364865 | SLC12A3 | c.2856+12G= (n.2856+12G=) c.2853+12G= (n.2853+12G=) c.2883+12G= (n.2883+12G=) c.2880+12G= (n.2880+12G=) n.287+12G= | |
16 | g.56902520G>T | CA622341885 | SLC12A3 | c.2856+12G>T (n.2856+12G>T) c.2853+12G>T (n.2853+12G>T) c.2883+12G>T (n.2883+12G>T) c.2880+12G>T (n.2880+12G>T) n.287+12G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902522_56902524del | CA2633375826 | SLC12A3 | c.2856+14_2856+16del (n.2856+14_2856+16del) c.2853+14_2853+16del (n.2853+14_2853+16del) c.2883+14_2883+16del (n.2883+14_2883+16del) c.2880+14_2880+16del (n.2880+14_2880+16del) n.287+14_287+16del | gnomAD v4 |
16 | g.56902521G>A | CA2576002376 | SLC12A3 | c.2856+13G>A (n.2856+13G>A) c.2853+13G>A (n.2853+13G>A) c.2883+13G>A (n.2883+13G>A) c.2880+13G>A (n.2880+13G>A) n.287+13G>A | gnomAD v4 |
16 | g.56902521G>C | CA2633375829 | SLC12A3 | c.2856+13G>C (n.2856+13G>C) c.2853+13G>C (n.2853+13G>C) c.2883+13G>C (n.2883+13G>C) c.2880+13G>C (n.2880+13G>C) n.287+13G>C | gnomAD v4 |
16 | g.56902521G>T | CA2633375830 | SLC12A3 | c.2856+13G>T (n.2856+13G>T) c.2853+13G>T (n.2853+13G>T) c.2883+13G>T (n.2883+13G>T) c.2880+13G>T (n.2880+13G>T) n.287+13G>T | ClinVar gnomAD v4 |
16 | g.56902521_56902522delinsGT | CA2224364866 | SLC12A3 | c.2856+13_2856+14delinsGT (n.2856+13_2856+14delinsGT) c.2853+13_2853+14delinsGT (n.2853+13_2853+14delinsGT) c.2883+13_2883+14delinsGT (n.2883+13_2883+14delinsGT) c.2880+13_2880+14delinsGT (n.2880+13_2880+14delinsGT) n.287+13_287+14delinsGT | |
16 | g.56902522del | CA622341887 | SLC12A3 | c.2856+14del (n.2856+14del) c.2853+14del (n.2853+14del) c.2883+14del (n.2883+14del) c.2880+14del (n.2880+14del) n.287+14del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902522T>A | CA977655840 | SLC12A3 | c.2856+14T>A (n.2856+14T>A) c.2853+14T>A (n.2853+14T>A) c.2883+14T>A (n.2883+14T>A) c.2880+14T>A (n.2880+14T>A) n.287+14T>A | gnomAD v3 gnomAD v4 |
16 | g.56902522T>G | CA8070080 | SLC12A3 | c.2856+14T>G (n.2856+14T>G) c.2853+14T>G (n.2853+14T>G) c.2883+14T>G (n.2883+14T>G) c.2880+14T>G (n.2880+14T>G) n.287+14T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902522T= | CA2224364867 | SLC12A3 | c.2856+14T= (n.2856+14T=) c.2853+14T= (n.2853+14T=) c.2883+14T= (n.2883+14T=) c.2880+14T= (n.2880+14T=) n.287+14T= | |
16 | g.56902523G>A | CA8070082 | SLC12A3 | c.2856+15G>A (n.2856+15G>A) c.2853+15G>A (n.2853+15G>A) c.2883+15G>A (n.2883+15G>A) c.2880+15G>A (n.2880+15G>A) n.287+15G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902523G>C | CA8070081 | SLC12A3 | c.2856+15G>C (n.2856+15G>C) c.2853+15G>C (n.2853+15G>C) c.2883+15G>C (n.2883+15G>C) c.2880+15G>C (n.2880+15G>C) n.287+15G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902523G= | CA2224364868 | SLC12A3 | c.2856+15G= (n.2856+15G=) c.2853+15G= (n.2853+15G=) c.2883+15G= (n.2883+15G=) c.2880+15G= (n.2880+15G=) n.287+15G= | |
16 | g.56902523G>T | CA622341892 | SLC12A3 | c.2856+15G>T (n.2856+15G>T) c.2853+15G>T (n.2853+15G>T) c.2883+15G>T (n.2883+15G>T) c.2880+15G>T (n.2880+15G>T) n.287+15G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902523_56902524insAGGGTGGAGGGGGGGGGG | CA2633375863 | SLC12A3 | c.2856+15_2856+16insAGGGTGGAGGGGGGGGGG (n.2856+15_2856+16insAGGGTGGAGGGGGGGGGG) c.2853+15_2853+16insAGGGTGGAGGGGGGGGGG (n.2853+15_2853+16insAGGGTGGAGGGGGGGGGG) c.2883+15_2883+16insAGGGTGGAGGGGGGGGGG (n.2883+15_2883+16insAGGGTGGAGGGGGGGGGG) c.2880+15_2880+16insAGGGTGGAGGGGGGGGGG (n.2880+15_2880+16insAGGGTGGAGGGGGGGGGG) n.287+15_287+16insAGGGTGGAGGGGGGGGGG | gnomAD v4 |
16 | g.56902524_56902525insAGGGGGGGGGGG | CA977655856 | SLC12A3 | c.2856+16_2856+17insAGGGGGGGGGGG (n.2856+16_2856+17insAGGGGGGGGGGG) c.2853+16_2853+17insAGGGGGGGGGGG (n.2853+16_2853+17insAGGGGGGGGGGG) c.2883+16_2883+17insAGGGGGGGGGGG (n.2883+16_2883+17insAGGGGGGGGGGG) c.2880+16_2880+17insAGGGGGGGGGGG (n.2880+16_2880+17insAGGGGGGGGGGG) n.287+16_287+17insAGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902526_56902527insAGGGGGGGGGGGGG | CA2633375861 | SLC12A3 | c.2856+18_2856+19insAGGGGGGGGGGGGG (n.2856+18_2856+19insAGGGGGGGGGGGGG) c.2853+18_2853+19insAGGGGGGGGGGGGG (n.2853+18_2853+19insAGGGGGGGGGGGGG) c.2883+18_2883+19insAGGGGGGGGGGGGG (n.2883+18_2883+19insAGGGGGGGGGGGGG) c.2880+18_2880+19insAGGGGGGGGGGGGG (n.2880+18_2880+19insAGGGGGGGGGGGGG) n.287+18_287+19insAGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902527_56902528insGGGGGG | CA2633375859 | SLC12A3 | c.2856+19_2856+20insGGGGGG (n.2856+19_2856+20insGGGGGG) c.2853+19_2853+20insGGGGGG (n.2853+19_2853+20insGGGGGG) c.2883+19_2883+20insGGGGGG (n.2883+19_2883+20insGGGGGG) c.2880+19_2880+20insGGGGGG (n.2880+19_2880+20insGGGGGG) n.287+19_287+20insGGGGGG | gnomAD v4 |
16 | g.56902527_56902528insGGGGGGG | CA977655846 | SLC12A3 | c.2856+19_2856+20insGGGGGGG (n.2856+19_2856+20insGGGGGGG) c.2853+19_2853+20insGGGGGGG (n.2853+19_2853+20insGGGGGGG) c.2883+19_2883+20insGGGGGGG (n.2883+19_2883+20insGGGGGGG) c.2880+19_2880+20insGGGGGGG (n.2880+19_2880+20insGGGGGGG) n.287+19_287+20insGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGG | CA977655851 | SLC12A3 | c.2856+19_2856+20insGGGGGGGG (n.2856+19_2856+20insGGGGGGGG) c.2853+19_2853+20insGGGGGGGG (n.2853+19_2853+20insGGGGGGGG) c.2883+19_2883+20insGGGGGGGG (n.2883+19_2883+20insGGGGGGGG) c.2880+19_2880+20insGGGGGGGG (n.2880+19_2880+20insGGGGGGGG) n.287+19_287+20insGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGG | CA2633375855 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGG) n.287+19_287+20insGGGGGGGGG | gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGGG | CA622341890 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGG) n.287+19_287+20insGGGGGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGGGG | CA2633375852 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGG) n.287+19_287+20insGGGGGGGGGGG | gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGGGGG | CA622341891 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGG) n.287+19_287+20insGGGGGGGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGGGGGGG | CA2633375851 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGG) n.287+19_287+20insGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902527_56902528insAGGGAGGGGGGGGGG | CA2633375860 | SLC12A3 | c.2856+19_2856+20insAGGGAGGGGGGGGGG (n.2856+19_2856+20insAGGGAGGGGGGGGGG) c.2853+19_2853+20insAGGGAGGGGGGGGGG (n.2853+19_2853+20insAGGGAGGGGGGGGGG) c.2883+19_2883+20insAGGGAGGGGGGGGGG (n.2883+19_2883+20insAGGGAGGGGGGGGGG) c.2880+19_2880+20insAGGGAGGGGGGGGGG (n.2880+19_2880+20insAGGGAGGGGGGGGGG) n.287+19_287+20insAGGGAGGGGGGGGGG | gnomAD v4 |
16 | g.56902527_56902528insGGGGAGGGGGGGGGG | CA977655848 | SLC12A3 | c.2856+19_2856+20insGGGGAGGGGGGGGGG (n.2856+19_2856+20insGGGGAGGGGGGGGGG) c.2853+19_2853+20insGGGGAGGGGGGGGGG (n.2853+19_2853+20insGGGGAGGGGGGGGGG) c.2883+19_2883+20insGGGGAGGGGGGGGGG (n.2883+19_2883+20insGGGGAGGGGGGGGGG) c.2880+19_2880+20insGGGGAGGGGGGGGGG (n.2880+19_2880+20insGGGGAGGGGGGGGGG) n.287+19_287+20insGGGGAGGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGGGGGGGG | CA2807160639 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGGG) n.287+19_287+20insGGGGGGGGGGGGGGG | |
16 | g.56902527_56902528insGGAGGGGGGGGGGGGGG | CA2633375857 | SLC12A3 | c.2856+19_2856+20insGGAGGGGGGGGGGGGGG (n.2856+19_2856+20insGGAGGGGGGGGGGGGGG) c.2853+19_2853+20insGGAGGGGGGGGGGGGGG (n.2853+19_2853+20insGGAGGGGGGGGGGGGGG) c.2883+19_2883+20insGGAGGGGGGGGGGGGGG (n.2883+19_2883+20insGGAGGGGGGGGGGGGGG) c.2880+19_2880+20insGGAGGGGGGGGGGGGGG (n.2880+19_2880+20insGGAGGGGGGGGGGGGGG) n.287+19_287+20insGGAGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGGGGGGGGGGG | CA977655847 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGGGGGG) n.287+19_287+20insGGGGGGGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902527_56902528insGGGGGGGGGGGGGGGGGGGG | CA2633375849 | SLC12A3 | c.2856+19_2856+20insGGGGGGGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGGGGGGGG) c.2853+19_2853+20insGGGGGGGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGGGGGGGG) c.2883+19_2883+20insGGGGGGGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGGGGGGGG) c.2880+19_2880+20insGGGGGGGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGGGGGGGG) n.287+19_287+20insGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902527dup | CA281519868 | SLC12A3 | c.2856+19dup (n.2856+19dup) c.2853+19dup (n.2853+19dup) c.2883+19dup (n.2883+19dup) c.2880+19dup (n.2880+19dup) n.287+19dup | dbSNP gnomAD v4 |
16 | g.56902525_56902527dup | CA2633375862 | SLC12A3 | c.2856+17_2856+19dup (n.2856+17_2856+19dup) c.2853+17_2853+19dup (n.2853+17_2853+19dup) c.2883+17_2883+19dup (n.2883+17_2883+19dup) c.2880+17_2880+19dup (n.2880+17_2880+19dup) n.287+17_287+19dup | gnomAD v4 |
16 | g.56902524_56902527dup | CA2566444162 | SLC12A3 | c.2856+16_2856+19dup (n.2856+16_2856+19dup) c.2853+16_2853+19dup (n.2853+16_2853+19dup) c.2883+16_2883+19dup (n.2883+16_2883+19dup) c.2880+16_2880+19dup (n.2880+16_2880+19dup) n.287+16_287+19dup | gnomAD v4 |
16 | g.56902523_56902527dup | CA977655855 | SLC12A3 | c.2856+15_2856+19dup (n.2856+15_2856+19dup) c.2853+15_2853+19dup (n.2853+15_2853+19dup) c.2883+15_2883+19dup (n.2883+15_2883+19dup) c.2880+15_2880+19dup (n.2880+15_2880+19dup) n.287+15_287+19dup | gnomAD v3 gnomAD v4 |
16 | g.56902527del | CA2576002377 | SLC12A3 | c.2856+19del (n.2856+19del) c.2853+19del (n.2853+19del) c.2883+19del (n.2883+19del) c.2880+19del (n.2880+19del) n.287+19del | gnomAD v4 |
16 | g.56902526_56902527del | CA2633375848 | SLC12A3 | c.2856+18_2856+19del (n.2856+18_2856+19del) c.2853+18_2853+19del (n.2853+18_2853+19del) c.2883+18_2883+19del (n.2883+18_2883+19del) c.2880+18_2880+19del (n.2880+18_2880+19del) n.287+18_287+19del | gnomAD v4 |
16 | g.56902525_56902527del | CA2633375847 | SLC12A3 | c.2856+17_2856+19del (n.2856+17_2856+19del) c.2853+17_2853+19del (n.2853+17_2853+19del) c.2883+17_2883+19del (n.2883+17_2883+19del) c.2880+17_2880+19del (n.2880+17_2880+19del) n.287+17_287+19del | gnomAD v4 |
16 | g.56902523_56902531del | CA2633375846 | SLC12A3 | c.2856+15_2856+23del (n.2856+15_2856+23del) c.2853+15_2853+23del (n.2853+15_2853+23del) c.2883+15_2883+23del (n.2883+15_2883+23del) c.2880+15_2880+23del (n.2880+15_2880+23del) n.287+15_287+23del | gnomAD v4 |
16 | g.56902523_56902524insT | CA2633375867 | SLC12A3 | c.2856+15_2856+16insT (n.2856+15_2856+16insT) c.2853+15_2853+16insT (n.2853+15_2853+16insT) c.2883+15_2883+16insT (n.2883+15_2883+16insT) c.2880+15_2880+16insT (n.2880+15_2880+16insT) n.287+15_287+16insT | gnomAD v4 |
16 | g.56902524G>A | CA2633375866 | SLC12A3 | c.2856+16G>A (n.2856+16G>A) c.2853+16G>A (n.2853+16G>A) c.2883+16G>A (n.2883+16G>A) c.2880+16G>A (n.2880+16G>A) n.287+16G>A | gnomAD v4 |
16 | g.56902524G>C | CA2224364869 | SLC12A3 | c.2856+16G>C (n.2856+16G>C) c.2853+16G>C (n.2853+16G>C) c.2883+16G>C (n.2883+16G>C) c.2880+16G>C (n.2880+16G>C) n.287+16G>C | dbSNP |
16 | g.56902524G= | CA2224364870 | SLC12A3 | c.2856+16G= (n.2856+16G=) c.2853+16G= (n.2853+16G=) c.2883+16G= (n.2883+16G=) c.2880+16G= (n.2880+16G=) n.287+16G= | |
16 | g.56902524G>T | CA2633375865 | SLC12A3 | c.2856+16G>T (n.2856+16G>T) c.2853+16G>T (n.2853+16G>T) c.2883+16G>T (n.2883+16G>T) c.2880+16G>T (n.2880+16G>T) n.287+16G>T | gnomAD v4 |
16 | g.56902527_56902531del | CA2576002378 | SLC12A3 | c.2856+19_2856+23del (n.2856+19_2856+23del) c.2853+19_2853+23del (n.2853+19_2853+23del) c.2883+19_2883+23del (n.2883+19_2883+23del) c.2880+19_2880+23del (n.2880+19_2880+23del) n.287+19_287+23del | gnomAD v4 |
16 | g.56902525G>A | CA2576002379 | SLC12A3 | c.2856+17G>A (n.2856+17G>A) c.2853+17G>A (n.2853+17G>A) c.2883+17G>A (n.2883+17G>A) c.2880+17G>A (n.2880+17G>A) n.287+17G>A | gnomAD v4 |
16 | g.56902525G>C | CA2739266775 | SLC12A3 | c.2856+17G>C (n.2856+17G>C) c.2853+17G>C (n.2853+17G>C) c.2883+17G>C (n.2883+17G>C) c.2880+17G>C (n.2880+17G>C) n.287+17G>C | ClinVar |
16 | g.56902525G>T | CA2633375870 | SLC12A3 | c.2856+17G>T (n.2856+17G>T) c.2853+17G>T (n.2853+17G>T) c.2883+17G>T (n.2883+17G>T) c.2880+17G>T (n.2880+17G>T) n.287+17G>T | gnomAD v4 |
16 | g.56902528_56902531del | CA2633375869 | SLC12A3 | c.2856+20_2856+23del (n.2856+20_2856+23del) c.2853+20_2853+23del (n.2853+20_2853+23del) c.2883+20_2883+23del (n.2883+20_2883+23del) c.2880+20_2880+23del (n.2880+20_2880+23del) n.287+20_287+23del | gnomAD v4 |
16 | g.56902526G>A | CA2633375872 | SLC12A3 | c.2856+18G>A (n.2856+18G>A) c.2853+18G>A (n.2853+18G>A) c.2883+18G>A (n.2883+18G>A) c.2880+18G>A (n.2880+18G>A) n.287+18G>A | ClinVar gnomAD v4 |
16 | g.56902526G>C | CA2633375873 | SLC12A3 | c.2856+18G>C (n.2856+18G>C) c.2853+18G>C (n.2853+18G>C) c.2883+18G>C (n.2883+18G>C) c.2880+18G>C (n.2880+18G>C) n.287+18G>C | gnomAD v4 |
16 | g.56902526G>T | CA2633375874 | SLC12A3 | c.2856+18G>T (n.2856+18G>T) c.2853+18G>T (n.2853+18G>T) c.2883+18G>T (n.2883+18G>T) c.2880+18G>T (n.2880+18G>T) n.287+18G>T | gnomAD v4 |
16 | g.56902526_56902528delinsGGT | CA2224364871 | SLC12A3 | c.2856+18_2856+20delinsGGT (n.2856+18_2856+20delinsGGT) c.2853+18_2853+20delinsGGT (n.2853+18_2853+20delinsGGT) c.2883+18_2883+20delinsGGT (n.2883+18_2883+20delinsGGT) c.2880+18_2880+20delinsGGT (n.2880+18_2880+20delinsGGT) n.287+18_287+20delinsGGT | |
16 | g.56902528_56902530del | CA2633375871 | SLC12A3 | c.2856+20_2856+22del (n.2856+20_2856+22del) c.2853+20_2853+22del (n.2853+20_2853+22del) c.2883+20_2883+22del (n.2883+20_2883+22del) c.2880+20_2880+22del (n.2880+20_2880+22del) n.287+20_287+22del | gnomAD v4 |
16 | g.56902527G>A | CA2576002381 | SLC12A3 | c.2856+19G>A (n.2856+19G>A) c.2853+19G>A (n.2853+19G>A) c.2883+19G>A (n.2883+19G>A) c.2880+19G>A (n.2880+19G>A) n.287+19G>A | gnomAD v4 |
16 | g.56902527G>C | CA2633375876 | SLC12A3 | c.2856+19G>C (n.2856+19G>C) c.2853+19G>C (n.2853+19G>C) c.2883+19G>C (n.2883+19G>C) c.2880+19G>C (n.2880+19G>C) n.287+19G>C | gnomAD v4 |
16 | g.56902527G>T | CA2633375875 | SLC12A3 | c.2856+19G>T (n.2856+19G>T) c.2853+19G>T (n.2853+19G>T) c.2883+19G>T (n.2883+19G>T) c.2880+19G>T (n.2880+19G>T) n.287+19G>T | gnomAD v4 |
16 | g.56902528_56902529del | CA2224364872 | SLC12A3 | c.2856+20_2856+21del (n.2856+20_2856+21del) c.2853+20_2853+21del (n.2853+20_2853+21del) c.2883+20_2883+21del (n.2883+20_2883+21del) c.2880+20_2880+21del (n.2880+20_2880+21del) n.287+20_287+21del | dbSNP gnomAD v4 |
16 | g.56902527_56902532del | CA2576002380 | SLC12A3 | c.2856+19_2856+24del (n.2856+19_2856+24del) c.2853+19_2853+24del (n.2853+19_2853+24del) c.2883+19_2883+24del (n.2883+19_2883+24del) c.2880+19_2880+24del (n.2880+19_2880+24del) n.287+19_287+24del | gnomAD v4 |