Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56904373C= | CA2224365716 | SLC12A3 | c.2857-22C= (n.2857-22C=) c.2854-22C= (n.2854-22C=) c.2884-22C= (n.2884-22C=) c.2881-22C= (n.2881-22C=) n.288-22C= | |
16 | g.56904373C>T | CA8070123 | SLC12A3 | c.2857-22C>T (n.2857-22C>T) c.2854-22C>T (n.2854-22C>T) c.2884-22C>T (n.2884-22C>T) c.2881-22C>T (n.2881-22C>T) n.288-22C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904375C>G | CA2633380439 | SLC12A3 | c.2857-20C>G (n.2857-20C>G) c.2854-20C>G (n.2854-20C>G) c.2884-20C>G (n.2884-20C>G) c.2881-20C>G (n.2881-20C>G) n.288-20C>G | gnomAD v4 |
16 | g.56904376T>A | CA721950588 | SLC12A3 | c.2857-19T>A (n.2857-19T>A) c.2854-19T>A (n.2854-19T>A) c.2884-19T>A (n.2884-19T>A) c.2881-19T>A (n.2881-19T>A) n.288-19T>A | dbSNP |
16 | g.56904376T= | CA2224365717 | SLC12A3 | c.2857-19T= (n.2857-19T=) c.2854-19T= (n.2854-19T=) c.2884-19T= (n.2884-19T=) c.2881-19T= (n.2881-19T=) n.288-19T= | |
16 | g.56904377C>A | CA8070125 | SLC12A3 | c.2857-18C>A (n.2857-18C>A) c.2854-18C>A (n.2854-18C>A) c.2884-18C>A (n.2884-18C>A) c.2881-18C>A (n.2881-18C>A) n.288-18C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904377C= | CA2224365718 | SLC12A3 | c.2857-18C= (n.2857-18C=) c.2854-18C= (n.2854-18C=) c.2884-18C= (n.2884-18C=) c.2881-18C= (n.2881-18C=) n.288-18C= | |
16 | g.56904377C>T | CA8070124 | SLC12A3 | c.2857-18C>T (n.2857-18C>T) c.2854-18C>T (n.2854-18C>T) c.2884-18C>T (n.2884-18C>T) c.2881-18C>T (n.2881-18C>T) n.288-18C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904378G>A | CA8070126 | SLC12A3 | c.2857-17G>A (n.2857-17G>A) c.2854-17G>A (n.2854-17G>A) c.2884-17G>A (n.2884-17G>A) c.2881-17G>A (n.2881-17G>A) n.288-17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904378G>C | CA2581266927 | SLC12A3 | c.2857-17G>C (n.2857-17G>C) c.2854-17G>C (n.2854-17G>C) c.2884-17G>C (n.2884-17G>C) c.2881-17G>C (n.2881-17G>C) n.288-17G>C | ClinVar gnomAD v4 |
16 | g.56904378G= | CA2224365719 | SLC12A3 | c.2857-17G= (n.2857-17G=) c.2854-17G= (n.2854-17G=) c.2884-17G= (n.2884-17G=) c.2881-17G= (n.2881-17G=) n.288-17G= | |
16 | g.56904378G>T | CA2581266926 | SLC12A3 | c.2857-17G>T (n.2857-17G>T) c.2854-17G>T (n.2854-17G>T) c.2884-17G>T (n.2884-17G>T) c.2881-17G>T (n.2881-17G>T) n.288-17G>T | |
16 | g.56904378_56904379delinsAA | CA2573152520 | SLC12A3 | c.2857-17_2857-16delinsAA (n.2857-17_2857-16delinsAA) c.2854-17_2854-16delinsAA (n.2854-17_2854-16delinsAA) c.2884-17_2884-16delinsAA (n.2884-17_2884-16delinsAA) c.2881-17_2881-16delinsAA (n.2881-17_2881-16delinsAA) n.288-17_288-16delinsAA | ClinVar dbSNP |
16 | g.56904379G>A | CA495613543 | SLC12A3 | c.2857-16G>A (n.2857-16G>A) c.2854-16G>A (n.2854-16G>A) c.2884-16G>A (n.2884-16G>A) c.2881-16G>A (n.2881-16G>A) n.288-16G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904379G>C | CA622342525 | SLC12A3 | c.2857-16G>C (n.2857-16G>C) c.2854-16G>C (n.2854-16G>C) c.2884-16G>C (n.2884-16G>C) c.2881-16G>C (n.2881-16G>C) n.288-16G>C | dbSNP gnomAD v2 |
16 | g.56904379G= | CA2224365720 | SLC12A3 | c.2857-16G= (n.2857-16G=) c.2854-16G= (n.2854-16G=) c.2884-16G= (n.2884-16G=) c.2881-16G= (n.2881-16G=) n.288-16G= | |
16 | g.56904383T>C | CA2739266780 | SLC12A3 | c.2857-12T>C (n.2857-12T>C) c.2854-12T>C (n.2854-12T>C) c.2884-12T>C (n.2884-12T>C) c.2881-12T>C (n.2881-12T>C) n.288-12T>C | ClinVar |
16 | g.56904386C>T | CA2633380479 | SLC12A3 | c.2857-9C>T (n.2857-9C>T) c.2854-9C>T (n.2854-9C>T) c.2884-9C>T (n.2884-9C>T) c.2881-9C>T (n.2881-9C>T) n.288-9C>T | gnomAD v4 |
16 | g.56904388dup | CA2633380478 | SLC12A3 | c.2857-7dup (n.2857-7dup) c.2854-7dup (n.2854-7dup) c.2884-7dup (n.2884-7dup) c.2881-7dup (n.2881-7dup) n.288-7dup | gnomAD v4 |
16 | g.56904387C= | CA2224365721 | SLC12A3 | c.2857-8C= (n.2857-8C=) c.2854-8C= (n.2854-8C=) c.2884-8C= (n.2884-8C=) c.2881-8C= (n.2881-8C=) n.288-8C= | |
16 | g.56904387C>G | CA915949278 | SLC12A3 | c.2857-8C>G (n.2857-8C>G) c.2854-8C>G (n.2854-8C>G) c.2884-8C>G (n.2884-8C>G) c.2881-8C>G (n.2881-8C>G) n.288-8C>G | ClinVar dbSNP |
16 | g.56904388C>A | CA2633380491 | SLC12A3 | c.2857-7C>A (n.2857-7C>A) c.2854-7C>A (n.2854-7C>A) c.2884-7C>A (n.2884-7C>A) c.2881-7C>A (n.2881-7C>A) n.288-7C>A | gnomAD v4 |
16 | g.56904388C= | CA2224365722 | SLC12A3 | c.2857-7C= (n.2857-7C=) c.2854-7C= (n.2854-7C=) c.2884-7C= (n.2884-7C=) c.2881-7C= (n.2881-7C=) n.288-7C= | |
16 | g.56904388C>G | CA2633380496 | SLC12A3 | c.2857-7C>G (n.2857-7C>G) c.2854-7C>G (n.2854-7C>G) c.2884-7C>G (n.2884-7C>G) c.2881-7C>G (n.2881-7C>G) n.288-7C>G | gnomAD v4 |
16 | g.56904388C>T | CA8070127 | SLC12A3 | c.2857-7C>T (n.2857-7C>T) c.2854-7C>T (n.2854-7C>T) c.2884-7C>T (n.2884-7C>T) c.2881-7C>T (n.2881-7C>T) n.288-7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904389G>A | CA8070128 | SLC12A3 | c.2857-6G>A (n.2857-6G>A) c.2854-6G>A (n.2854-6G>A) c.2884-6G>A (n.2884-6G>A) c.2881-6G>A (n.2881-6G>A) n.288-6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904389G= | CA2224365723 | SLC12A3 | c.2857-6G= (n.2857-6G=) c.2854-6G= (n.2854-6G=) c.2884-6G= (n.2884-6G=) c.2881-6G= (n.2881-6G=) n.288-6G= | |
16 | g.56904389G>T | CA721950602 | SLC12A3 | c.2857-6G>T (n.2857-6G>T) c.2854-6G>T (n.2854-6G>T) c.2884-6G>T (n.2884-6G>T) c.2881-6G>T (n.2881-6G>T) n.288-6G>T | ClinVar dbSNP gnomAD v4 |
16 | g.56904390C= | CA2224365724 | SLC12A3 | c.2857-5C= (n.2857-5C=) c.2854-5C= (n.2854-5C=) c.2884-5C= (n.2884-5C=) c.2881-5C= (n.2881-5C=) n.288-5C= | |
16 | g.56904390C>T | CA8070129 | SLC12A3 | c.2857-5C>T (n.2857-5C>T) c.2854-5C>T (n.2854-5C>T) c.2884-5C>T (n.2884-5C>T) c.2881-5C>T (n.2881-5C>T) n.288-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904393A>C | CA396002152 | SLC12A3 | c.2857-2A>C (n.2857-2A>C) c.2854-2A>C (n.2854-2A>C) c.2884-2A>C (n.2884-2A>C) c.2881-2A>C (n.2881-2A>C) n.288-2A>C | |
16 | g.56904393A>G | CA396002155 | SLC12A3 | c.2857-2A>G (n.2857-2A>G) c.2854-2A>G (n.2854-2A>G) c.2884-2A>G (n.2884-2A>G) c.2881-2A>G (n.2881-2A>G) n.288-2A>G | |
16 | g.56904393A>T | CA396002158 | SLC12A3 | c.2857-2A>T (n.2857-2A>T) c.2854-2A>T (n.2854-2A>T) c.2884-2A>T (n.2884-2A>T) c.2881-2A>T (n.2881-2A>T) n.288-2A>T | |
16 | g.56904394G>A | CA396002162 | SLC12A3 | c.2857-1G>A (n.2857-1G>A) c.2854-1G>A (n.2854-1G>A) c.2884-1G>A (n.2884-1G>A) c.2881-1G>A (n.2881-1G>A) n.288-1G>A | ClinVar dbSNP |
16 | g.56904394G>C | CA396002165 | SLC12A3 | c.2857-1G>C (n.2857-1G>C) c.2854-1G>C (n.2854-1G>C) c.2884-1G>C (n.2884-1G>C) c.2881-1G>C (n.2881-1G>C) n.288-1G>C | |
16 | g.56904394G>T | CA396002168 | SLC12A3 | c.2857-1G>T (n.2857-1G>T) c.2854-1G>T (n.2854-1G>T) c.2884-1G>T (n.2884-1G>T) c.2881-1G>T (n.2881-1G>T) n.288-1G>T | |
16 | g.56904395T>A | CA396002172 | SLC12A3 | c.2857T>A (p.Ser953Thr) c.2854T>A (p.Ser952Thr) c.2884T>A (p.Ser962Thr) c.2881T>A (p.Ser961Thr) n.288T>A | |
16 | g.56904395T>C | CA396002178 | SLC12A3 | c.2857T>C (p.Ser953Pro) c.2854T>C (p.Ser952Pro) c.2884T>C (p.Ser962Pro) c.2881T>C (p.Ser961Pro) n.288T>C | |
16 | g.56904395T>G | CA396002175 | SLC12A3 | c.2857T>G (p.Ser953Ala) c.2854T>G (p.Ser952Ala) c.2884T>G (p.Ser962Ala) c.2881T>G (p.Ser961Ala) n.288T>G | |
16 | g.56904396C>A | CA396002184 | SLC12A3 | c.2858C>A (p.Ser953Tyr) c.2855C>A (p.Ser952Tyr) c.2885C>A (p.Ser962Tyr) c.2882C>A (p.Ser961Tyr) n.289C>A | gnomAD v4 |
16 | g.56904396C>G | CA396002190 | SLC12A3 | c.2858C>G (p.Ser953Cys) c.2855C>G (p.Ser952Cys) c.2885C>G (p.Ser962Cys) c.2882C>G (p.Ser961Cys) n.289C>G | |
16 | g.56904396C>T | CA396002194 | SLC12A3 | c.2858C>T (p.Ser953Phe) c.2855C>T (p.Ser952Phe) c.2885C>T (p.Ser962Phe) c.2882C>T (p.Ser961Phe) n.289C>T | |
16 | g.56904397C>A | CA495613544 | SLC12A3 | c.2859C>A (p.Ser953=) c.2856C>A (p.Ser952=) c.2886C>A (p.Ser962=) c.2883C>A (p.Ser961=) n.290C>A | |
16 | g.56904397C= | CA2224365725 | SLC12A3 | c.2859C= (p.Ser953=) c.2856C= (p.Ser952=) c.2886C= (p.Ser962=) c.2883C= (p.Ser961=) n.290C= | |
16 | g.56904397C>G | CA495613545 | SLC12A3 | c.2859C>G (p.Ser953=) c.2856C>G (p.Ser952=) c.2886C>G (p.Ser962=) c.2883C>G (p.Ser961=) n.290C>G | |
16 | g.56904397C>T | CA8070130 | SLC12A3 | c.2859C>T (p.Ser953=) c.2856C>T (p.Ser952=) c.2886C>T (p.Ser962=) c.2883C>T (p.Ser961=) n.290C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904398C>A | CA396002203 | SLC12A3 | c.2860C>A (p.Leu954Ile) c.2857C>A (p.Leu953Ile) c.2887C>A (p.Leu963Ile) c.2884C>A (p.Leu962Ile) n.291C>A | |
16 | g.56904398C>G | CA396002211 | SLC12A3 | c.2860C>G (p.Leu954Val) c.2857C>G (p.Leu953Val) c.2887C>G (p.Leu963Val) c.2884C>G (p.Leu962Val) n.291C>G | |
16 | g.56904398C>T | CA396002207 | SLC12A3 | c.2860C>T (p.Leu954Phe) c.2857C>T (p.Leu953Phe) c.2887C>T (p.Leu963Phe) c.2884C>T (p.Leu962Phe) n.291C>T | |
16 | g.56904399T>A | CA396002217 | SLC12A3 | c.2861T>A (p.Leu954His) c.2858T>A (p.Leu953His) c.2888T>A (p.Leu963His) c.2885T>A (p.Leu962His) n.292T>A | |
16 | g.56904399T>C | CA396002219 | SLC12A3 | c.2861T>C (p.Leu954Pro) c.2858T>C (p.Leu953Pro) c.2888T>C (p.Leu963Pro) c.2885T>C (p.Leu962Pro) n.292T>C | |
16 | g.56904399T>G | CA396002223 | SLC12A3 | c.2861T>G (p.Leu954Arg) c.2858T>G (p.Leu953Arg) c.2888T>G (p.Leu963Arg) c.2885T>G (p.Leu962Arg) n.292T>G | |
16 | g.56904400T>A | CA495613548 | SLC12A3 | c.2862T>A (p.Leu954=) c.2859T>A (p.Leu953=) c.2889T>A (p.Leu963=) c.2886T>A (p.Leu962=) n.293T>A | |
16 | g.56904400T>C | CA495613547 | SLC12A3 | c.2862T>C (p.Leu954=) c.2859T>C (p.Leu953=) c.2889T>C (p.Leu963=) c.2886T>C (p.Leu962=) n.293T>C | |
16 | g.56904400T>G | CA495613546 | SLC12A3 | c.2862T>G (p.Leu954=) c.2859T>G (p.Leu953=) c.2889T>G (p.Leu963=) c.2886T>G (p.Leu962=) n.293T>G | |
16 | g.56904401C>A | CA495613549 | SLC12A3 | c.2863C>A (p.Arg955=) c.2860C>A (p.Arg954=) c.2890C>A (p.Arg964=) c.2887C>A (p.Arg963=) n.294C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904401C= | CA2224365726 | SLC12A3 | c.2863C= (p.Arg955=) c.2860C= (p.Arg954=) c.2890C= (p.Arg964=) c.2887C= (p.Arg963=) n.294C= | |
16 | g.56904401C>G | CA396002228 | SLC12A3 | c.2863C>G (p.Arg955Gly) c.2860C>G (p.Arg954Gly) c.2890C>G (p.Arg964Gly) c.2887C>G (p.Arg963Gly) n.294C>G | |
16 | g.56904401C>T | CA8070131 | SLC12A3 | c.2863C>T (p.Arg955Trp) c.2860C>T (p.Arg954Trp) c.2890C>T (p.Arg964Trp) c.2887C>T (p.Arg963Trp) n.294C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904402G>A | CA8070132 | SLC12A3 | c.2864G>A (p.Arg955Gln) c.2861G>A (p.Arg954Gln) c.2891G>A (p.Arg964Gln) c.2888G>A (p.Arg963Gln) n.295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904402G>C | CA396002234 | SLC12A3 | c.2864G>C (p.Arg955Pro) c.2861G>C (p.Arg954Pro) c.2891G>C (p.Arg964Pro) c.2888G>C (p.Arg963Pro) n.295G>C | ClinVar |
16 | g.56904402G= | CA2224365727 | SLC12A3 | c.2864G= (p.Arg955=) c.2861G= (p.Arg954=) c.2891G= (p.Arg964=) c.2888G= (p.Arg963=) n.295G= | |
16 | g.56904402G>T | CA396002236 | SLC12A3 | c.2864G>T (p.Arg955Leu) c.2861G>T (p.Arg954Leu) c.2891G>T (p.Arg964Leu) c.2888G>T (p.Arg963Leu) n.295G>T | |
16 | g.56904404_56904407dup | CA2633380547 | SLC12A3 | c.2866_2869dup (p.Val957AlafsTer6) c.2863_2866dup (p.Val956AlafsTer6) c.2893_2896dup (p.Val966AlafsTer6) c.2890_2893dup (p.Val965AlafsTer6) n.297_300dup | gnomAD v4 |
16 | g.56904403G>A | CA495613550 | SLC12A3 | c.2865G>A (p.Arg955=) c.2862G>A (p.Arg954=) c.2892G>A (p.Arg964=) c.2889G>A (p.Arg963=) n.296G>A | |
16 | g.56904403G>C | CA495613551 | SLC12A3 | c.2865G>C (p.Arg955=) c.2862G>C (p.Arg954=) c.2892G>C (p.Arg964=) c.2889G>C (p.Arg963=) n.296G>C | |
16 | g.56904403G>T | CA495613552 | SLC12A3 | c.2865G>T (p.Arg955=) c.2862G>T (p.Arg954=) c.2892G>T (p.Arg964=) c.2889G>T (p.Arg963=) n.296G>T | dbSNP |
16 | g.56904404C>A | CA396002240 | SLC12A3 | c.2866C>A (p.Gln956Lys) c.2863C>A (p.Gln955Lys) c.2893C>A (p.Gln965Lys) c.2890C>A (p.Gln964Lys) n.297C>A | |
16 | g.56904404C= | CA2224365728 | SLC12A3 | c.2866C= (p.Gln956=) c.2863C= (p.Gln955=) c.2893C= (p.Gln965=) c.2890C= (p.Gln964=) n.297C= | |
16 | g.56904404C>G | CA396002241 | SLC12A3 | c.2866C>G (p.Gln956Glu) c.2863C>G (p.Gln955Glu) c.2893C>G (p.Gln965Glu) c.2890C>G (p.Gln964Glu) n.297C>G | ClinVar |
16 | g.56904404C>T | CA8070133 | SLC12A3 | c.2866C>T (p.Gln956Ter) c.2863C>T (p.Gln955Ter) c.2893C>T (p.Gln965Ter) c.2890C>T (p.Gln964Ter) n.297C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904405A= | CA2224365729 | SLC12A3 | c.2867A= (p.Gln956=) c.2864A= (p.Gln955=) c.2894A= (p.Gln965=) c.2891A= (p.Gln964=) n.298A= | |
16 | g.56904405A>C | CA281521274 | SLC12A3 | c.2867A>C (p.Gln956Pro) c.2864A>C (p.Gln955Pro) c.2894A>C (p.Gln965Pro) c.2891A>C (p.Gln964Pro) n.298A>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904405A>G | CA396002262 | SLC12A3 | c.2867A>G (p.Gln956Arg) c.2864A>G (p.Gln955Arg) c.2894A>G (p.Gln965Arg) c.2891A>G (p.Gln964Arg) n.298A>G | gnomAD v4 COSMIC |
16 | g.56904405A>T | CA396002259 | SLC12A3 | c.2867A>T (p.Gln956Leu) c.2864A>T (p.Gln955Leu) c.2894A>T (p.Gln965Leu) c.2891A>T (p.Gln964Leu) n.298A>T | |
16 | g.56904406G>A | CA495613553 | SLC12A3 | c.2868G>A (p.Gln956=) c.2865G>A (p.Gln955=) c.2895G>A (p.Gln965=) c.2892G>A (p.Gln964=) n.299G>A | |
16 | g.56904406G>C | CA396002265 | SLC12A3 | c.2868G>C (p.Gln956His) c.2865G>C (p.Gln955His) c.2895G>C (p.Gln965His) c.2892G>C (p.Gln964His) n.299G>C | |
16 | g.56904406G>T | CA396002267 | SLC12A3 | c.2868G>T (p.Gln956His) c.2865G>T (p.Gln955His) c.2895G>T (p.Gln965His) c.2892G>T (p.Gln964His) n.299G>T | |
16 | g.56904407G>A | CA396002268 | SLC12A3 | c.2869G>A (p.Val957Met) c.2866G>A (p.Val956Met) c.2896G>A (p.Val966Met) c.2893G>A (p.Val965Met) n.300G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904407G>C | CA396002269 | SLC12A3 | c.2869G>C (p.Val957Leu) c.2866G>C (p.Val956Leu) c.2896G>C (p.Val966Leu) c.2893G>C (p.Val965Leu) n.300G>C | |
16 | g.56904407G= | CA2224365730 | SLC12A3 | c.2869G= (p.Val957=) c.2866G= (p.Val956=) c.2896G= (p.Val966=) c.2893G= (p.Val965=) n.300G= | |
16 | g.56904407G>T | CA396002270 | SLC12A3 | c.2869G>T (p.Val957Leu) c.2866G>T (p.Val956Leu) c.2896G>T (p.Val966Leu) c.2893G>T (p.Val965Leu) n.300G>T | |
16 | g.56904408T>A | CA396002272 | SLC12A3 | c.2870T>A (p.Val957Glu) c.2867T>A (p.Val956Glu) c.2897T>A (p.Val966Glu) c.2894T>A (p.Val965Glu) n.301T>A | |
16 | g.56904408T>C | CA396002275 | SLC12A3 | c.2870T>C (p.Val957Ala) c.2867T>C (p.Val956Ala) c.2897T>C (p.Val966Ala) c.2894T>C (p.Val965Ala) n.301T>C | |
16 | g.56904408T>G | CA8070134 | SLC12A3 | c.2870T>G (p.Val957Gly) c.2867T>G (p.Val956Gly) c.2897T>G (p.Val966Gly) c.2894T>G (p.Val965Gly) n.301T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904408T= | CA2224365731 | SLC12A3 | c.2870T= (p.Val957=) c.2867T= (p.Val956=) c.2897T= (p.Val966=) c.2894T= (p.Val965=) n.301T= | |
16 | g.56904409G>A | CA495613554 | SLC12A3 | c.2871G>A (p.Val957=) c.2868G>A (p.Val956=) c.2898G>A (p.Val966=) c.2895G>A (p.Val965=) n.302G>A | gnomAD v4 |
16 | g.56904409G>C | CA495613555 | SLC12A3 | c.2871G>C (p.Val957=) c.2868G>C (p.Val956=) c.2898G>C (p.Val966=) c.2895G>C (p.Val965=) n.302G>C | |
16 | g.56904409G>T | CA495613556 | SLC12A3 | c.2871G>T (p.Val957=) c.2868G>T (p.Val956=) c.2898G>T (p.Val966=) c.2895G>T (p.Val965=) n.302G>T | |
16 | g.56904410A= | CA2224365732 | SLC12A3 | c.2872A= (p.Arg958=) c.2869A= (p.Arg957=) c.2899A= (p.Arg967=) c.2896A= (p.Arg966=) n.303A= | |
16 | g.56904410A>C | CA495613557 | SLC12A3 | c.2872A>C (p.Arg958=) c.2869A>C (p.Arg957=) c.2899A>C (p.Arg967=) c.2896A>C (p.Arg966=) n.303A>C | gnomAD v4 |
16 | g.56904410A>G | CA8070135 | SLC12A3 | c.2872A>G (p.Arg958Gly) c.2869A>G (p.Arg957Gly) c.2899A>G (p.Arg967Gly) c.2896A>G (p.Arg966Gly) n.303A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904410A>T | CA396002276 | SLC12A3 | c.2872A>T (p.Arg958Trp) c.2869A>T (p.Arg957Trp) c.2899A>T (p.Arg967Trp) c.2896A>T (p.Arg966Trp) n.303A>T | ClinVar dbSNP gnomAD v4 |
16 | g.56904411G>A | CA396002279 | SLC12A3 | c.2873G>A (p.Arg958Lys) c.2870G>A (p.Arg957Lys) c.2900G>A (p.Arg967Lys) c.2897G>A (p.Arg966Lys) n.304G>A | |
16 | g.56904411G>C | CA396002280 | SLC12A3 | c.2873G>C (p.Arg958Thr) c.2870G>C (p.Arg957Thr) c.2900G>C (p.Arg967Thr) c.2897G>C (p.Arg966Thr) n.304G>C | |
16 | g.56904411G>T | CA396002282 | SLC12A3 | c.2873G>T (p.Arg958Met) c.2870G>T (p.Arg957Met) c.2900G>T (p.Arg967Met) c.2897G>T (p.Arg966Met) n.304G>T | |
16 | g.56904412del | CA2633380608 | SLC12A3 | c.2874del (p.Arg958SerfsTer2) c.2871del (p.Arg957SerfsTer2) c.2901del (p.Arg967SerfsTer2) c.2898del (p.Arg966SerfsTer2) n.305del | ClinVar gnomAD v4 |
16 | g.56904412G>A | CA495613558 | SLC12A3 | c.2874G>A (p.Arg958=) c.2871G>A (p.Arg957=) c.2901G>A (p.Arg967=) c.2898G>A (p.Arg966=) n.305G>A | |
16 | g.56904412G>C | CA396002285 | SLC12A3 | c.2874G>C (p.Arg958Ser) c.2871G>C (p.Arg957Ser) c.2901G>C (p.Arg967Ser) c.2898G>C (p.Arg966Ser) n.305G>C | |
16 | g.56904412G>T | CA396002287 | SLC12A3 | c.2874G>T (p.Arg958Ser) c.2871G>T (p.Arg957Ser) c.2901G>T (p.Arg967Ser) c.2898G>T (p.Arg966Ser) n.305G>T | |
16 | g.56904413C>A | CA396002288 | SLC12A3 | c.2875C>A (p.Leu959Met) c.2872C>A (p.Leu958Met) c.2902C>A (p.Leu968Met) c.2899C>A (p.Leu967Met) n.306C>A | |
16 | g.56904413C= | CA2224365733 | SLC12A3 | c.2875C= (p.Leu959=) c.2872C= (p.Leu958=) c.2902C= (p.Leu968=) c.2899C= (p.Leu967=) n.306C= | |
16 | g.56904413C>G | CA396002289 | SLC12A3 | c.2875C>G (p.Leu959Val) c.2872C>G (p.Leu958Val) c.2902C>G (p.Leu968Val) c.2899C>G (p.Leu967Val) n.306C>G | |
16 | g.56904413C>T | CA8070136 | SLC12A3 | c.2875C>T (p.Leu959=) c.2872C>T (p.Leu958=) c.2902C>T (p.Leu968=) c.2899C>T (p.Leu967=) n.306C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904414T>A | CA396002292 | SLC12A3 | c.2876T>A (p.Leu959Gln) c.2873T>A (p.Leu958Gln) c.2903T>A (p.Leu968Gln) c.2900T>A (p.Leu967Gln) n.307T>A | |
16 | g.56904414T>C | CA396002299 | SLC12A3 | c.2876T>C (p.Leu959Pro) c.2873T>C (p.Leu958Pro) c.2903T>C (p.Leu968Pro) c.2900T>C (p.Leu967Pro) n.307T>C | |
16 | g.56904414T>G | CA396002300 | SLC12A3 | c.2876T>G (p.Leu959Arg) c.2873T>G (p.Leu958Arg) c.2903T>G (p.Leu968Arg) c.2900T>G (p.Leu967Arg) n.307T>G | |
16 | g.56904415G>A | CA495613559 | SLC12A3 | c.2877G>A (p.Leu959=) c.2874G>A (p.Leu958=) c.2904G>A (p.Leu968=) c.2901G>A (p.Leu967=) n.308G>A | dbSNP gnomAD v2 |
16 | g.56904415G>C | CA495613560 | SLC12A3 | c.2877G>C (p.Leu959=) c.2874G>C (p.Leu958=) c.2904G>C (p.Leu968=) c.2901G>C (p.Leu967=) n.308G>C | |
16 | g.56904415G= | CA2224365734 | SLC12A3 | c.2877G= (p.Leu959=) c.2874G= (p.Leu958=) c.2904G= (p.Leu968=) c.2901G= (p.Leu967=) n.308G= | |
16 | g.56904415G>T | CA495613561 | SLC12A3 | c.2877G>T (p.Leu959=) c.2874G>T (p.Leu958=) c.2904G>T (p.Leu968=) c.2901G>T (p.Leu967=) n.308G>T | gnomAD v4 |
16 | g.56904416A>C | CA396002305 | SLC12A3 | c.2878A>C (p.Asn960His) c.2875A>C (p.Asn959His) c.2905A>C (p.Asn969His) c.2902A>C (p.Asn968His) n.309A>C | |
16 | g.56904416A>G | CA396002313 | SLC12A3 | c.2878A>G (p.Asn960Asp) c.2875A>G (p.Asn959Asp) c.2905A>G (p.Asn969Asp) c.2902A>G (p.Asn968Asp) n.309A>G | |
16 | g.56904416A>T | CA396002316 | SLC12A3 | c.2878A>T (p.Asn960Tyr) c.2875A>T (p.Asn959Tyr) c.2905A>T (p.Asn969Tyr) c.2902A>T (p.Asn968Tyr) n.309A>T | |
16 | g.56904417A>C | CA396002319 | SLC12A3 | c.2879A>C (p.Asn960Thr) c.2876A>C (p.Asn959Thr) c.2906A>C (p.Asn969Thr) c.2903A>C (p.Asn968Thr) n.310A>C | |
16 | g.56904417A>G | CA396002320 | SLC12A3 | c.2879A>G (p.Asn960Ser) c.2876A>G (p.Asn959Ser) c.2906A>G (p.Asn969Ser) c.2903A>G (p.Asn968Ser) n.310A>G | |
16 | g.56904417A>T | CA396002323 | SLC12A3 | c.2879A>T (p.Asn960Ile) c.2876A>T (p.Asn959Ile) c.2906A>T (p.Asn969Ile) c.2903A>T (p.Asn968Ile) n.310A>T | |
16 | g.56904418T>A | CA396002325 | SLC12A3 | c.2880T>A (p.Asn960Lys) c.2877T>A (p.Asn959Lys) c.2907T>A (p.Asn969Lys) c.2904T>A (p.Asn968Lys) n.311T>A | |
16 | g.56904418T>C | CA495613562 | SLC12A3 | c.2880T>C (p.Asn960=) c.2877T>C (p.Asn959=) c.2907T>C (p.Asn969=) c.2904T>C (p.Asn968=) n.311T>C | |
16 | g.56904418T>G | CA396002327 | SLC12A3 | c.2880T>G (p.Asn960Lys) c.2877T>G (p.Asn959Lys) c.2907T>G (p.Asn969Lys) c.2904T>G (p.Asn968Lys) n.311T>G | gnomAD v4 |
16 | g.56904419G>A | CA396002332 | SLC12A3 | c.2881G>A (p.Glu961Lys) c.2878G>A (p.Glu960Lys) c.2908G>A (p.Glu970Lys) c.2905G>A (p.Glu969Lys) n.312G>A | gnomAD v4 |
16 | g.56904419G>C | CA396002336 | SLC12A3 | c.2881G>C (p.Glu961Gln) c.2878G>C (p.Glu960Gln) c.2908G>C (p.Glu970Gln) c.2905G>C (p.Glu969Gln) n.312G>C | |
16 | g.56904419G>T | CA396002335 | SLC12A3 | c.2881G>T (p.Glu961Ter) c.2878G>T (p.Glu960Ter) c.2908G>T (p.Glu970Ter) c.2905G>T (p.Glu969Ter) n.312G>T | |
16 | g.56904420A>C | CA396002337 | SLC12A3 | c.2882A>C (p.Glu961Ala) c.2879A>C (p.Glu960Ala) c.2909A>C (p.Glu970Ala) c.2906A>C (p.Glu969Ala) n.313A>C | |
16 | g.56904420A>G | CA396002338 | SLC12A3 | c.2882A>G (p.Glu961Gly) c.2879A>G (p.Glu960Gly) c.2909A>G (p.Glu970Gly) c.2906A>G (p.Glu969Gly) n.313A>G | |
16 | g.56904420A>T | CA396002339 | SLC12A3 | c.2882A>T (p.Glu961Val) c.2879A>T (p.Glu960Val) c.2909A>T (p.Glu970Val) c.2906A>T (p.Glu969Val) n.313A>T | |
16 | g.56904421G>A | CA495613563 | SLC12A3 | c.2883G>A (p.Glu961=) c.2880G>A (p.Glu960=) c.2910G>A (p.Glu970=) c.2907G>A (p.Glu969=) n.314G>A | |
16 | g.56904421G>C | CA396002340 | SLC12A3 | c.2883G>C (p.Glu961Asp) c.2880G>C (p.Glu960Asp) c.2910G>C (p.Glu970Asp) c.2907G>C (p.Glu969Asp) n.314G>C | |
16 | g.56904421G>T | CA396002343 | SLC12A3 | c.2883G>T (p.Glu961Asp) c.2880G>T (p.Glu960Asp) c.2910G>T (p.Glu970Asp) c.2907G>T (p.Glu969Asp) n.314G>T | |
16 | g.56904422A= | CA2224365735 | SLC12A3 | c.2884A= (p.Ile962=) c.2881A= (p.Ile961=) c.2911A= (p.Ile971=) c.2908A= (p.Ile970=) n.315A= | |
16 | g.56904422A>C | CA396002345 | SLC12A3 | c.2884A>C (p.Ile962Leu) c.2881A>C (p.Ile961Leu) c.2911A>C (p.Ile971Leu) c.2908A>C (p.Ile970Leu) n.315A>C | |
16 | g.56904422A>G | CA396002347 | SLC12A3 | c.2884A>G (p.Ile962Val) c.2881A>G (p.Ile961Val) c.2911A>G (p.Ile971Val) c.2908A>G (p.Ile970Val) n.315A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904422A>T | CA396002350 | SLC12A3 | c.2884A>T (p.Ile962Phe) c.2881A>T (p.Ile961Phe) c.2911A>T (p.Ile971Phe) c.2908A>T (p.Ile970Phe) n.315A>T | |
16 | g.56904423T>A | CA396002355 | SLC12A3 | c.2885T>A (p.Ile962Asn) c.2882T>A (p.Ile961Asn) c.2912T>A (p.Ile971Asn) c.2909T>A (p.Ile970Asn) n.316T>A | |
16 | g.56904423T>C | CA396002356 | SLC12A3 | c.2885T>C (p.Ile962Thr) c.2882T>C (p.Ile961Thr) c.2912T>C (p.Ile971Thr) c.2909T>C (p.Ile970Thr) n.316T>C | |
16 | g.56904423T>G | CA396002358 | SLC12A3 | c.2885T>G (p.Ile962Ser) c.2882T>G (p.Ile961Ser) c.2912T>G (p.Ile971Ser) c.2909T>G (p.Ile970Ser) n.316T>G | COSMIC |
16 | g.56904424T>A | CA495613564 | SLC12A3 | c.2886T>A (p.Ile962=) c.2883T>A (p.Ile961=) c.2913T>A (p.Ile971=) c.2910T>A (p.Ile970=) n.317T>A | |
16 | g.56904424T>C | CA495613565 | SLC12A3 | c.2886T>C (p.Ile962=) c.2883T>C (p.Ile961=) c.2913T>C (p.Ile971=) c.2910T>C (p.Ile970=) n.317T>C | |
16 | g.56904424T>G | CA396002361 | SLC12A3 | c.2886T>G (p.Ile962Met) c.2883T>G (p.Ile961Met) c.2913T>G (p.Ile971Met) c.2910T>G (p.Ile970Met) n.317T>G | |
16 | g.56904425G>A | CA396002365 | SLC12A3 | c.2887G>A (p.Val963Met) c.2884G>A (p.Val962Met) c.2914G>A (p.Val972Met) c.2911G>A (p.Val971Met) n.318G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904425G>C | CA396002362 | SLC12A3 | c.2887G>C (p.Val963Leu) c.2884G>C (p.Val962Leu) c.2914G>C (p.Val972Leu) c.2911G>C (p.Val971Leu) n.318G>C | dbSNP |
16 | g.56904425G= | CA2224365736 | SLC12A3 | c.2887G= (p.Val963=) c.2884G= (p.Val962=) c.2914G= (p.Val972=) c.2911G= (p.Val971=) n.318G= | |
16 | g.56904425G>T | CA396002363 | SLC12A3 | c.2887G>T (p.Val963Leu) c.2884G>T (p.Val962Leu) c.2914G>T (p.Val972Leu) c.2911G>T (p.Val971Leu) n.318G>T | |
16 | g.56904426T>A | CA396002367 | SLC12A3 | c.2888T>A (p.Val963Glu) c.2885T>A (p.Val962Glu) c.2915T>A (p.Val972Glu) c.2912T>A (p.Val971Glu) n.319T>A | |
16 | g.56904426T>C | CA396002368 | SLC12A3 | c.2888T>C (p.Val963Ala) c.2885T>C (p.Val962Ala) c.2915T>C (p.Val972Ala) c.2912T>C (p.Val971Ala) n.319T>C | |
16 | g.56904426T>G | CA396002372 | SLC12A3 | c.2888T>G (p.Val963Gly) c.2885T>G (p.Val962Gly) c.2915T>G (p.Val972Gly) c.2912T>G (p.Val971Gly) n.319T>G | |
16 | g.56904427G>A | CA495613567 | SLC12A3 | c.2889G>A (p.Val963=) c.2886G>A (p.Val962=) c.2916G>A (p.Val972=) c.2913G>A (p.Val971=) n.320G>A | |
16 | g.56904427G>C | CA495613568 | SLC12A3 | c.2889G>C (p.Val963=) c.2886G>C (p.Val962=) c.2916G>C (p.Val972=) c.2913G>C (p.Val971=) n.320G>C | |
16 | g.56904427G= | CA2224365737 | SLC12A3 | c.2889G= (p.Val963=) c.2886G= (p.Val962=) c.2916G= (p.Val972=) c.2913G= (p.Val971=) n.320G= | |
16 | g.56904427G>T | CA495613569 | SLC12A3 | c.2889G>T (p.Val963=) c.2886G>T (p.Val962=) c.2916G>T (p.Val972=) c.2913G>T (p.Val971=) n.320G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56904428C>A | CA396002374 | SLC12A3 | c.2890C>A (p.Leu964Met) c.2887C>A (p.Leu963Met) c.2917C>A (p.Leu973Met) c.2914C>A (p.Leu972Met) n.321C>A | |
16 | g.56904428C= | CA2224365738 | SLC12A3 | c.2890C= (p.Leu964=) c.2887C= (p.Leu963=) c.2917C= (p.Leu973=) c.2914C= (p.Leu972=) n.321C= | |
16 | g.56904428C>G | CA396002376 | SLC12A3 | c.2890C>G (p.Leu964Val) c.2887C>G (p.Leu963Val) c.2917C>G (p.Leu973Val) c.2914C>G (p.Leu972Val) n.321C>G | |
16 | g.56904428C>T | CA495613570 | SLC12A3 | c.2890C>T (p.Leu964=) c.2887C>T (p.Leu963=) c.2917C>T (p.Leu973=) c.2914C>T (p.Leu972=) n.321C>T | ClinVar dbSNP |
16 | g.56904429T>A | CA396002380 | SLC12A3 | c.2891T>A (p.Leu964Gln) c.2888T>A (p.Leu963Gln) c.2918T>A (p.Leu973Gln) c.2915T>A (p.Leu972Gln) n.322T>A | |
16 | g.56904429T>C | CA396002394 | SLC12A3 | c.2891T>C (p.Leu964Pro) c.2888T>C (p.Leu963Pro) c.2918T>C (p.Leu973Pro) c.2915T>C (p.Leu972Pro) n.322T>C | dbSNP |
16 | g.56904429T>G | CA396002396 | SLC12A3 | c.2891T>G (p.Leu964Arg) c.2888T>G (p.Leu963Arg) c.2918T>G (p.Leu973Arg) c.2915T>G (p.Leu972Arg) n.322T>G | |
16 | g.56904429T= | CA2224365739 | SLC12A3 | c.2891T= (p.Leu964=) c.2888T= (p.Leu963=) c.2918T= (p.Leu973=) c.2915T= (p.Leu972=) n.322T= | |
16 | g.56904430G>A | CA495613571 | SLC12A3 | c.2892G>A (p.Leu964=) c.2889G>A (p.Leu963=) c.2919G>A (p.Leu973=) c.2916G>A (p.Leu972=) n.323G>A | |
16 | g.56904430G>C | CA495613572 | SLC12A3 | c.2892G>C (p.Leu964=) c.2889G>C (p.Leu963=) c.2919G>C (p.Leu973=) c.2916G>C (p.Leu972=) n.323G>C | |
16 | g.56904430G>T | CA495613573 | SLC12A3 | c.2892G>T (p.Leu964=) c.2889G>T (p.Leu963=) c.2919G>T (p.Leu973=) c.2916G>T (p.Leu972=) n.323G>T | |
16 | g.56904431G>A | CA396002400 | SLC12A3 | c.2893G>A (p.Asp965Asn) c.2890G>A (p.Asp964Asn) c.2920G>A (p.Asp974Asn) c.2917G>A (p.Asp973Asn) n.324G>A | |
16 | g.56904431G>C | CA396002402 | SLC12A3 | c.2893G>C (p.Asp965His) c.2890G>C (p.Asp964His) c.2920G>C (p.Asp974His) c.2917G>C (p.Asp973His) n.324G>C | |
16 | g.56904431G= | CA2224365740 | SLC12A3 | c.2893G= (p.Asp965=) c.2890G= (p.Asp964=) c.2920G= (p.Asp974=) c.2917G= (p.Asp973=) n.324G= | |
16 | g.56904431G>T | CA8070137 | SLC12A3 | c.2893G>T (p.Asp965Tyr) c.2890G>T (p.Asp964Tyr) c.2920G>T (p.Asp974Tyr) c.2917G>T (p.Asp973Tyr) n.324G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904432A= | CA2224365741 | SLC12A3 | c.2894A= (p.Asp965=) c.2891A= (p.Asp964=) c.2921A= (p.Asp974=) c.2918A= (p.Asp973=) n.325A= | |
16 | g.56904432A>C | CA396002412 | SLC12A3 | c.2894A>C (p.Asp965Ala) c.2891A>C (p.Asp964Ala) c.2921A>C (p.Asp974Ala) c.2918A>C (p.Asp973Ala) n.325A>C | |
16 | g.56904432A>G | CA396002411 | SLC12A3 | c.2894A>G (p.Asp965Gly) c.2891A>G (p.Asp964Gly) c.2921A>G (p.Asp974Gly) c.2918A>G (p.Asp973Gly) n.325A>G | dbSNP |
16 | g.56904432A>T | CA396002409 | SLC12A3 | c.2894A>T (p.Asp965Val) c.2891A>T (p.Asp964Val) c.2921A>T (p.Asp974Val) c.2918A>T (p.Asp973Val) n.325A>T | |
16 | g.56904433T>A | CA396002414 | SLC12A3 | c.2895T>A (p.Asp965Glu) c.2892T>A (p.Asp964Glu) c.2922T>A (p.Asp974Glu) c.2919T>A (p.Asp973Glu) n.326T>A | |
16 | g.56904433T>C | CA495613575 | SLC12A3 | c.2895T>C (p.Asp965=) c.2892T>C (p.Asp964=) c.2922T>C (p.Asp974=) c.2919T>C (p.Asp973=) n.326T>C | |
16 | g.56904433T>G | CA396002417 | SLC12A3 | c.2895T>G (p.Asp965Glu) c.2892T>G (p.Asp964Glu) c.2922T>G (p.Asp974Glu) c.2919T>G (p.Asp973Glu) n.326T>G | |
16 | g.56904434T>A | CA396002420 | SLC12A3 | c.2896T>A (p.Tyr966Asn) c.2893T>A (p.Tyr965Asn) c.2923T>A (p.Tyr975Asn) c.2920T>A (p.Tyr974Asn) n.327T>A | |
16 | g.56904434T>C | CA396002422 | SLC12A3 | c.2896T>C (p.Tyr966His) c.2893T>C (p.Tyr965His) c.2923T>C (p.Tyr975His) c.2920T>C (p.Tyr974His) n.327T>C | |
16 | g.56904434T>G | CA396002421 | SLC12A3 | c.2896T>G (p.Tyr966Asp) c.2893T>G (p.Tyr965Asp) c.2923T>G (p.Tyr975Asp) c.2920T>G (p.Tyr974Asp) n.327T>G | |
16 | g.56904435A= | CA2224365742 | SLC12A3 | c.2897A= (p.Tyr966=) c.2894A= (p.Tyr965=) c.2924A= (p.Tyr975=) c.2921A= (p.Tyr974=) n.328A= | |
16 | g.56904435A>C | CA396002423 | SLC12A3 | c.2897A>C (p.Tyr966Ser) c.2894A>C (p.Tyr965Ser) c.2924A>C (p.Tyr975Ser) c.2921A>C (p.Tyr974Ser) n.328A>C | |
16 | g.56904435A>G | CA396002425 | SLC12A3 | c.2897A>G (p.Tyr966Cys) c.2894A>G (p.Tyr965Cys) c.2924A>G (p.Tyr975Cys) c.2921A>G (p.Tyr974Cys) n.328A>G | |
16 | g.56904435A>T | CA8070138 | SLC12A3 | c.2897A>T (p.Tyr966Phe) c.2894A>T (p.Tyr965Phe) c.2924A>T (p.Tyr975Phe) c.2921A>T (p.Tyr974Phe) n.328A>T | dbSNP ExAC gnomAD v2 |
16 | g.56904436C>A | CA396002426 | SLC12A3 | c.2898C>A (p.Tyr966Ter) c.2895C>A (p.Tyr965Ter) c.2925C>A (p.Tyr975Ter) c.2922C>A (p.Tyr974Ter) n.329C>A | |
16 | g.56904436C>G | CA396002427 | SLC12A3 | c.2898C>G (p.Tyr966Ter) c.2895C>G (p.Tyr965Ter) c.2925C>G (p.Tyr975Ter) c.2922C>G (p.Tyr974Ter) n.329C>G | |
16 | g.56904436C>T | CA495613578 | SLC12A3 | c.2898C>T (p.Tyr966=) c.2895C>T (p.Tyr965=) c.2925C>T (p.Tyr975=) c.2922C>T (p.Tyr974=) n.329C>T | ClinVar |
16 | g.56904437T>A | CA396002432 | SLC12A3 | c.2899T>A (p.Ser967Thr) c.2896T>A (p.Ser966Thr) c.2926T>A (p.Ser976Thr) c.2923T>A (p.Ser975Thr) n.330T>A | ClinVar |
16 | g.56904437T>C | CA396002430 | SLC12A3 | c.2899T>C (p.Ser967Pro) c.2896T>C (p.Ser966Pro) c.2926T>C (p.Ser976Pro) c.2923T>C (p.Ser975Pro) n.330T>C | |
16 | g.56904437T>G | CA396002428 | SLC12A3 | c.2899T>G (p.Ser967Ala) c.2896T>G (p.Ser966Ala) c.2926T>G (p.Ser976Ala) c.2923T>G (p.Ser975Ala) n.330T>G | |
16 | g.56904438C>A | CA396002437 | SLC12A3 | c.2900C>A (p.Ser967Tyr) c.2897C>A (p.Ser966Tyr) c.2927C>A (p.Ser976Tyr) c.2924C>A (p.Ser975Tyr) n.331C>A | |
16 | g.56904438C= | CA2224365743 | SLC12A3 | c.2900C= (p.Ser967=) c.2897C= (p.Ser966=) c.2927C= (p.Ser976=) c.2924C= (p.Ser975=) n.331C= | |
16 | g.56904438C>G | CA396002439 | SLC12A3 | c.2900C>G (p.Ser967Cys) c.2897C>G (p.Ser966Cys) c.2927C>G (p.Ser976Cys) c.2924C>G (p.Ser975Cys) n.331C>G | |
16 | g.56904438C>T | CA8070139 | SLC12A3 | c.2900C>T (p.Ser967Phe) c.2897C>T (p.Ser966Phe) c.2927C>T (p.Ser976Phe) c.2924C>T (p.Ser975Phe) n.331C>T | ClinVar dbSNP ExAC gnomAD v4 |
16 | g.56904439C>A | CA495613580 | SLC12A3 | c.2901C>A (p.Ser967=) c.2898C>A (p.Ser966=) c.2928C>A (p.Ser976=) c.2925C>A (p.Ser975=) n.332C>A | |
16 | g.56904439C>G | CA495613581 | SLC12A3 | c.2901C>G (p.Ser967=) c.2898C>G (p.Ser966=) c.2928C>G (p.Ser976=) c.2925C>G (p.Ser975=) n.332C>G | |
16 | g.56904439C>T | CA495613582 | SLC12A3 | c.2901C>T (p.Ser967=) c.2898C>T (p.Ser966=) c.2928C>T (p.Ser976=) c.2925C>T (p.Ser975=) n.332C>T | |
16 | g.56904440C>A | CA8070140 | SLC12A3 | c.2902C>A (p.Arg968=) c.2899C>A (p.Arg967=) c.2929C>A (p.Arg977=) c.2926C>A (p.Arg976=) n.333C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904440C= | CA2224365744 | SLC12A3 | c.2902C= (p.Arg968=) c.2899C= (p.Arg967=) c.2929C= (p.Arg977=) c.2926C= (p.Arg976=) n.333C= | |
16 | g.56904440C>G | CA396002445 | SLC12A3 | c.2902C>G (p.Arg968Gly) c.2899C>G (p.Arg967Gly) c.2929C>G (p.Arg977Gly) c.2926C>G (p.Arg976Gly) n.333C>G | |
16 | g.56904440C>T | CA8070141 | SLC12A3 | c.2902C>T (p.Arg968Ter) c.2899C>T (p.Arg967Ter) c.2929C>T (p.Arg977Ter) c.2926C>T (p.Arg976Ter) n.333C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904441G>A | CA8070142 | SLC12A3 | c.2903G>A (p.Arg968Gln) c.2900G>A (p.Arg967Gln) c.2930G>A (p.Arg977Gln) c.2927G>A (p.Arg976Gln) n.334G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904441G>C | CA396002450 | SLC12A3 | c.2903G>C (p.Arg968Pro) c.2900G>C (p.Arg967Pro) c.2930G>C (p.Arg977Pro) c.2927G>C (p.Arg976Pro) n.334G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904441G= | CA2224365745 | SLC12A3 | c.2903G= (p.Arg968=) c.2900G= (p.Arg967=) c.2930G= (p.Arg977=) c.2927G= (p.Arg976=) n.334G= | |
16 | g.56904441G>T | CA396002455 | SLC12A3 | c.2903G>T (p.Arg968Leu) c.2900G>T (p.Arg967Leu) c.2930G>T (p.Arg977Leu) c.2927G>T (p.Arg976Leu) n.334G>T | |
16 | g.56904442A>C | CA495613584 | SLC12A3 | c.2904A>C (p.Arg968=) c.2901A>C (p.Arg967=) c.2931A>C (p.Arg977=) c.2928A>C (p.Arg976=) n.335A>C | gnomAD v4 |
16 | g.56904442A>G | CA495613585 | SLC12A3 | c.2904A>G (p.Arg968=) c.2901A>G (p.Arg967=) c.2931A>G (p.Arg977=) c.2928A>G (p.Arg976=) n.335A>G | |
16 | g.56904442A>T | CA495613586 | SLC12A3 | c.2904A>T (p.Arg968=) c.2901A>T (p.Arg967=) c.2931A>T (p.Arg977=) c.2928A>T (p.Arg976=) n.335A>T | |
16 | g.56904443G>A | CA396002465 | SLC12A3 | c.2905G>A (p.Asp969Asn) c.2902G>A (p.Asp968Asn) c.2932G>A (p.Asp978Asn) c.2929G>A (p.Asp977Asn) n.336G>A | dbSNP |
16 | g.56904443G>C | CA396002468 | SLC12A3 | c.2905G>C (p.Asp969His) c.2902G>C (p.Asp968His) c.2932G>C (p.Asp978His) c.2929G>C (p.Asp977His) n.336G>C | |
16 | g.56904443G= | CA2224365746 | SLC12A3 | c.2905G= (p.Asp969=) c.2902G= (p.Asp968=) c.2932G= (p.Asp978=) c.2929G= (p.Asp977=) n.336G= | |
16 | g.56904443G>T | CA396002472 | SLC12A3 | c.2905G>T (p.Asp969Tyr) c.2902G>T (p.Asp968Tyr) c.2932G>T (p.Asp978Tyr) c.2929G>T (p.Asp977Tyr) n.336G>T | |
16 | g.56904444A= | CA2224365748 | SLC12A3 | c.2906A= (p.Asp969=) c.2903A= (p.Asp968=) c.2933A= (p.Asp978=) c.2930A= (p.Asp977=) n.337A= | |
16 | g.56904444A>C | CA396002477 | SLC12A3 | c.2906A>C (p.Asp969Ala) c.2903A>C (p.Asp968Ala) c.2933A>C (p.Asp978Ala) c.2930A>C (p.Asp977Ala) n.337A>C | |
16 | g.56904444A>G | CA396002479 | SLC12A3 | c.2906A>G (p.Asp969Gly) c.2903A>G (p.Asp968Gly) c.2933A>G (p.Asp978Gly) c.2930A>G (p.Asp977Gly) n.337A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904444A>T | CA396002481 | SLC12A3 | c.2906A>T (p.Asp969Val) c.2903A>T (p.Asp968Val) c.2933A>T (p.Asp978Val) c.2930A>T (p.Asp977Val) n.337A>T | |
16 | g.56904444_56904445delinsAC | CA2224365747 | SLC12A3 | c.2906_2907delinsAC (p.Asp969=) c.2903_2904delinsAC (p.Asp968=) c.2933_2934delinsAC (p.Asp978=) c.2930_2931delinsAC (p.Asp977=) n.337_338delinsAC | |
16 | g.56904445del | CA721950747 | SLC12A3 | c.2907del (p.Asp969GlufsTer11) c.2904del (p.Asp968GlufsTer11) c.2934del (p.Asp978GlufsTer11) c.2931del (p.Asp977GlufsTer11) n.338del | ClinVar dbSNP |
16 | g.56904445C>A | CA396002487 | SLC12A3 | c.2907C>A (p.Asp969Glu) c.2904C>A (p.Asp968Glu) c.2934C>A (p.Asp978Glu) c.2931C>A (p.Asp977Glu) n.338C>A | |
16 | g.56904445C= | CA2224365749 | SLC12A3 | c.2907C= (p.Asp969=) c.2904C= (p.Asp968=) c.2934C= (p.Asp978=) c.2931C= (p.Asp977=) n.338C= | |
16 | g.56904445C>G | CA396002490 | SLC12A3 | c.2907C>G (p.Asp969Glu) c.2904C>G (p.Asp968Glu) c.2934C>G (p.Asp978Glu) c.2931C>G (p.Asp977Glu) n.338C>G | |
16 | g.56904445C>T | CA8070143 | SLC12A3 | c.2907C>T (p.Asp969=) c.2904C>T (p.Asp968=) c.2934C>T (p.Asp978=) c.2931C>T (p.Asp977=) n.338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904446G>A | CA8070144 | SLC12A3 | c.2908G>A (p.Ala970Thr) c.2905G>A (p.Ala969Thr) c.2935G>A (p.Ala979Thr) c.2932G>A (p.Ala978Thr) n.339G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904446G>C | CA396002501 | SLC12A3 | c.2908G>C (p.Ala970Pro) c.2905G>C (p.Ala969Pro) c.2935G>C (p.Ala979Pro) c.2932G>C (p.Ala978Pro) n.339G>C | |
16 | g.56904446G= | CA2224365750 | SLC12A3 | c.2908G= (p.Ala970=) c.2905G= (p.Ala969=) c.2935G= (p.Ala979=) c.2932G= (p.Ala978=) n.339G= | |
16 | g.56904446G>T | CA396002505 | SLC12A3 | c.2908G>T (p.Ala970Ser) c.2905G>T (p.Ala969Ser) c.2935G>T (p.Ala979Ser) c.2932G>T (p.Ala978Ser) n.339G>T | dbSNP gnomAD v4 |
16 | g.56904447C>A | CA396002511 | SLC12A3 | c.2909C>A (p.Ala970Asp) c.2906C>A (p.Ala969Asp) c.2936C>A (p.Ala979Asp) c.2933C>A (p.Ala978Asp) n.340C>A | |
16 | g.56904447C>G | CA396002519 | SLC12A3 | c.2909C>G (p.Ala970Gly) c.2906C>G (p.Ala969Gly) c.2936C>G (p.Ala979Gly) c.2933C>G (p.Ala978Gly) n.340C>G | |
16 | g.56904447C>T | CA396002517 | SLC12A3 | c.2909C>T (p.Ala970Val) c.2906C>T (p.Ala969Val) c.2936C>T (p.Ala979Val) c.2933C>T (p.Ala978Val) n.340C>T | |
16 | g.56904448T>A | CA8070145 | SLC12A3 | c.2910T>A (p.Ala970=) c.2907T>A (p.Ala969=) c.2937T>A (p.Ala979=) c.2934T>A (p.Ala978=) n.341T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904448T>C | CA281521321 | SLC12A3 | c.2910T>C (p.Ala970=) c.2907T>C (p.Ala969=) c.2937T>C (p.Ala979=) c.2934T>C (p.Ala978=) n.341T>C | dbSNP |
16 | g.56904448T>G | CA495613588 | SLC12A3 | c.2910T>G (p.Ala970=) c.2907T>G (p.Ala969=) c.2937T>G (p.Ala979=) c.2934T>G (p.Ala978=) n.341T>G | |
16 | g.56904448T= | CA2224365751 | SLC12A3 | c.2910T= (p.Ala970=) c.2907T= (p.Ala969=) c.2937T= (p.Ala979=) c.2934T= (p.Ala978=) n.341T= | |
16 | g.56904449del | CA2807160867 | SLC12A3 | c.2911del (p.Ala971LeufsTer9) c.2908del (p.Ala970LeufsTer9) c.2938del (p.Ala980LeufsTer9) c.2935del (p.Ala979LeufsTer9) n.342del | |
16 | g.56904449G>A | CA396002528 | SLC12A3 | c.2911G>A (p.Ala971Thr) c.2908G>A (p.Ala970Thr) c.2938G>A (p.Ala980Thr) c.2935G>A (p.Ala979Thr) n.342G>A | ClinVar dbSNP |
16 | g.56904449G>C | CA396002531 | SLC12A3 | c.2911G>C (p.Ala971Pro) c.2908G>C (p.Ala970Pro) c.2938G>C (p.Ala980Pro) c.2935G>C (p.Ala979Pro) n.342G>C | gnomAD v4 |
16 | g.56904449G>T | CA396002536 | SLC12A3 | c.2911G>T (p.Ala971Ser) c.2908G>T (p.Ala970Ser) c.2938G>T (p.Ala980Ser) c.2935G>T (p.Ala979Ser) n.342G>T | gnomAD v4 |
16 | g.56904450C>A | CA396002541 | SLC12A3 | c.2912C>A (p.Ala971Asp) c.2909C>A (p.Ala970Asp) c.2939C>A (p.Ala980Asp) c.2936C>A (p.Ala979Asp) n.343C>A | |
16 | g.56904450C>G | CA396002543 | SLC12A3 | c.2912C>G (p.Ala971Gly) c.2909C>G (p.Ala970Gly) c.2939C>G (p.Ala980Gly) c.2936C>G (p.Ala979Gly) n.343C>G | |
16 | g.56904450C>T | CA396002547 | SLC12A3 | c.2912C>T (p.Ala971Val) c.2909C>T (p.Ala970Val) c.2939C>T (p.Ala980Val) c.2936C>T (p.Ala979Val) n.343C>T | gnomAD v4 |
16 | g.56904451T>A | CA495613589 | SLC12A3 | c.2913T>A (p.Ala971=) c.2910T>A (p.Ala970=) c.2940T>A (p.Ala980=) c.2937T>A (p.Ala979=) n.344T>A | |
16 | g.56904451T>C | CA281521333 | SLC12A3 | c.2913T>C (p.Ala971=) c.2910T>C (p.Ala970=) c.2940T>C (p.Ala980=) c.2937T>C (p.Ala979=) n.344T>C | dbSNP gnomAD v4 |
16 | g.56904451T>G | CA495613590 | SLC12A3 | c.2913T>G (p.Ala971=) c.2910T>G (p.Ala970=) c.2940T>G (p.Ala980=) c.2937T>G (p.Ala979=) n.344T>G | ClinVar dbSNP gnomAD v4 |
16 | g.56904451T= | CA2224365752 | SLC12A3 | c.2913T= (p.Ala971=) c.2910T= (p.Ala970=) c.2940T= (p.Ala980=) c.2937T= (p.Ala979=) n.344T= | |
16 | g.56904452C>A | CA396002553 | SLC12A3 | c.2914C>A (p.Leu972Ile) c.2911C>A (p.Leu971Ile) c.2941C>A (p.Leu981Ile) c.2938C>A (p.Leu980Ile) n.345C>A | |
16 | g.56904452C>G | CA396002559 | SLC12A3 | c.2914C>G (p.Leu972Val) c.2911C>G (p.Leu971Val) c.2941C>G (p.Leu981Val) c.2938C>G (p.Leu980Val) n.345C>G | |
16 | g.56904452C>T | CA396002561 | SLC12A3 | c.2914C>T (p.Leu972Phe) c.2911C>T (p.Leu971Phe) c.2941C>T (p.Leu981Phe) c.2938C>T (p.Leu980Phe) n.345C>T | gnomAD v4 |
16 | g.56904453T>A | CA396002566 | SLC12A3 | c.2915T>A (p.Leu972His) c.2912T>A (p.Leu971His) c.2942T>A (p.Leu981His) c.2939T>A (p.Leu980His) n.346T>A | |
16 | g.56904453T>C | CA396002575 | SLC12A3 | c.2915T>C (p.Leu972Pro) c.2912T>C (p.Leu971Pro) c.2942T>C (p.Leu981Pro) c.2939T>C (p.Leu980Pro) n.346T>C | |
16 | g.56904453T>G | CA396002580 | SLC12A3 | c.2915T>G (p.Leu972Arg) c.2912T>G (p.Leu971Arg) c.2942T>G (p.Leu981Arg) c.2939T>G (p.Leu980Arg) n.346T>G | |
16 | g.56904454C>A | CA495613592 | SLC12A3 | c.2916C>A (p.Leu972=) c.2913C>A (p.Leu971=) c.2943C>A (p.Leu981=) c.2940C>A (p.Leu980=) n.347C>A | |
16 | g.56904454C= | CA2224365753 | SLC12A3 | c.2916C= (p.Leu972=) c.2913C= (p.Leu971=) c.2943C= (p.Leu981=) c.2940C= (p.Leu980=) n.347C= | |
16 | g.56904454C>G | CA495613593 | SLC12A3 | c.2916C>G (p.Leu972=) c.2913C>G (p.Leu971=) c.2943C>G (p.Leu981=) c.2940C>G (p.Leu980=) n.347C>G | |
16 | g.56904454C>T | CA495613594 | SLC12A3 | c.2916C>T (p.Leu972=) c.2913C>T (p.Leu971=) c.2943C>T (p.Leu981=) c.2940C>T (p.Leu980=) n.347C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904455A>C | CA396002585 | SLC12A3 | c.2917A>C (p.Ile973Leu) c.2914A>C (p.Ile972Leu) c.2944A>C (p.Ile982Leu) c.2941A>C (p.Ile981Leu) n.348A>C | gnomAD v4 |
16 | g.56904455A>G | CA396002596 | SLC12A3 | c.2917A>G (p.Ile973Val) c.2914A>G (p.Ile972Val) c.2944A>G (p.Ile982Val) c.2941A>G (p.Ile981Val) n.348A>G | gnomAD v4 |
16 | g.56904455A>T | CA396002590 | SLC12A3 | c.2917A>T (p.Ile973Phe) c.2914A>T (p.Ile972Phe) c.2944A>T (p.Ile982Phe) c.2941A>T (p.Ile981Phe) n.348A>T | |
16 | g.56904456T>A | CA396002598 | SLC12A3 | c.2918T>A (p.Ile973Asn) c.2915T>A (p.Ile972Asn) c.2945T>A (p.Ile982Asn) c.2942T>A (p.Ile981Asn) n.349T>A | |
16 | g.56904456T>C | CA396002600 | SLC12A3 | c.2918T>C (p.Ile973Thr) c.2915T>C (p.Ile972Thr) c.2945T>C (p.Ile982Thr) c.2942T>C (p.Ile981Thr) n.349T>C | |
16 | g.56904456T>G | CA396002603 | SLC12A3 | c.2918T>G (p.Ile973Ser) c.2915T>G (p.Ile972Ser) c.2945T>G (p.Ile982Ser) c.2942T>G (p.Ile981Ser) n.349T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904456T= | CA2224365754 | SLC12A3 | c.2918T= (p.Ile973=) c.2915T= (p.Ile972=) c.2945T= (p.Ile982=) c.2942T= (p.Ile981=) n.349T= | |
16 | g.56904457C>A | CA495613596 | SLC12A3 | c.2919C>A (p.Ile973=) c.2916C>A (p.Ile972=) c.2946C>A (p.Ile982=) c.2943C>A (p.Ile981=) n.350C>A | dbSNP gnomAD v4 |
16 | g.56904457C= | CA2224365755 | SLC12A3 | c.2919C= (p.Ile973=) c.2916C= (p.Ile972=) c.2946C= (p.Ile982=) c.2943C= (p.Ile981=) n.350C= | |
16 | g.56904457C>G | CA396002611 | SLC12A3 | c.2919C>G (p.Ile973Met) c.2916C>G (p.Ile972Met) c.2946C>G (p.Ile982Met) c.2943C>G (p.Ile981Met) n.350C>G | |
16 | g.56904457C>T | CA8070146 | SLC12A3 | c.2919C>T (p.Ile973=) c.2916C>T (p.Ile972=) c.2946C>T (p.Ile982=) c.2943C>T (p.Ile981=) n.350C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904457dup | CA977656551 | SLC12A3 | c.2919dup (p.Val974ArgfsTer?) c.2916dup (p.Val973ArgfsTer?) c.2946dup (p.Val983ArgfsTer?) c.2943dup (p.Val982ArgfsTer?) n.350dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904458G>A | CA8070147 | SLC12A3 | c.2920G>A (p.Val974Ile) c.2917G>A (p.Val973Ile) c.2947G>A (p.Val983Ile) c.2944G>A (p.Val982Ile) n.351G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56904458G>C | CA396002617 | SLC12A3 | c.2920G>C (p.Val974Leu) c.2917G>C (p.Val973Leu) c.2947G>C (p.Val983Leu) c.2944G>C (p.Val982Leu) n.351G>C | |
16 | g.56904458G= | CA2224365756 | SLC12A3 | c.2920G= (p.Val974=) c.2917G= (p.Val973=) c.2947G= (p.Val983=) c.2944G= (p.Val982=) n.351G= | |
16 | g.56904458G>T | CA396002624 | SLC12A3 | c.2920G>T (p.Val974Phe) c.2917G>T (p.Val973Phe) c.2947G>T (p.Val983Phe) c.2944G>T (p.Val982Phe) n.351G>T | |
16 | g.56904459T>A | CA396002630 | SLC12A3 | c.2921T>A (p.Val974Asp) c.2918T>A (p.Val973Asp) c.2948T>A (p.Val983Asp) c.2945T>A (p.Val982Asp) n.352T>A | |
16 | g.56904459T>C | CA396002633 | SLC12A3 | c.2921T>C (p.Val974Ala) c.2918T>C (p.Val973Ala) c.2948T>C (p.Val983Ala) c.2945T>C (p.Val982Ala) n.352T>C | |
16 | g.56904459T>G | CA396002636 | SLC12A3 | c.2921T>G (p.Val974Gly) c.2918T>G (p.Val973Gly) c.2948T>G (p.Val983Gly) c.2945T>G (p.Val982Gly) n.352T>G | |
16 | g.56904460C>A | CA495613598 | SLC12A3 | c.2922C>A (p.Val974=) c.2919C>A (p.Val973=) c.2949C>A (p.Val983=) c.2946C>A (p.Val982=) n.353C>A | |
16 | g.56904460C= | CA2224365757 | SLC12A3 | c.2922C= (p.Val974=) c.2919C= (p.Val973=) c.2949C= (p.Val983=) c.2946C= (p.Val982=) n.353C= | |
16 | g.56904460C>G | CA8070148 | SLC12A3 | c.2922C>G (p.Val974=) c.2919C>G (p.Val973=) c.2949C>G (p.Val983=) c.2946C>G (p.Val982=) n.353C>G | dbSNP ExAC gnomAD v4 |
16 | g.56904460C>T | CA495613597 | SLC12A3 | c.2922C>T (p.Val974=) c.2919C>T (p.Val973=) c.2949C>T (p.Val983=) c.2946C>T (p.Val982=) n.353C>T | |
16 | g.56904461A= | CA2224365758 | SLC12A3 | c.2923A= (p.Ile975=) c.2920A= (p.Ile974=) c.2950A= (p.Ile984=) c.2947A= (p.Ile983=) n.354A= | |
16 | g.56904461A>C | CA396002646 | SLC12A3 | c.2923A>C (p.Ile975Leu) c.2920A>C (p.Ile974Leu) c.2950A>C (p.Ile984Leu) c.2947A>C (p.Ile983Leu) n.354A>C | |
16 | g.56904461A>G | CA396002644 | SLC12A3 | c.2923A>G (p.Ile975Val) c.2920A>G (p.Ile974Val) c.2950A>G (p.Ile984Val) c.2947A>G (p.Ile983Val) n.354A>G | dbSNP gnomAD v4 |
16 | g.56904461A>T | CA396002647 | SLC12A3 | c.2923A>T (p.Ile975Phe) c.2920A>T (p.Ile974Phe) c.2950A>T (p.Ile984Phe) c.2947A>T (p.Ile983Phe) n.354A>T | gnomAD v4 |
16 | g.56904462T>A | CA396002649 | SLC12A3 | c.2924T>A (p.Ile975Asn) c.2921T>A (p.Ile974Asn) c.2951T>A (p.Ile984Asn) c.2948T>A (p.Ile983Asn) n.355T>A | |
16 | g.56904462T>C | CA396002666 | SLC12A3 | c.2924T>C (p.Ile975Thr) c.2921T>C (p.Ile974Thr) c.2951T>C (p.Ile984Thr) c.2948T>C (p.Ile983Thr) n.355T>C | |
16 | g.56904462T>G | CA396002670 | SLC12A3 | c.2924T>G (p.Ile975Ser) c.2921T>G (p.Ile974Ser) c.2951T>G (p.Ile984Ser) c.2948T>G (p.Ile983Ser) n.355T>G | gnomAD v4 |
16 | g.56904463G>A | CA396002674 | SLC12A3 | c.2924+1G>A (n.2924+1G>A) c.2921+1G>A (n.2921+1G>A) c.2951+1G>A (n.2951+1G>A) c.2948+1G>A (n.2948+1G>A) n.356G>A | ClinVar dbSNP |
16 | g.56904463G>C | CA396002677 | SLC12A3 | c.2924+1G>C (n.2924+1G>C) c.2921+1G>C (n.2921+1G>C) c.2951+1G>C (n.2951+1G>C) c.2948+1G>C (n.2948+1G>C) n.356G>C | |
16 | g.56904463G>T | CA396002685 | SLC12A3 | c.2924+1G>T (n.2924+1G>T) c.2921+1G>T (n.2921+1G>T) c.2951+1G>T (n.2951+1G>T) c.2948+1G>T (n.2948+1G>T) n.356G>T | |
16 | g.56904464T>A | CA396002693 | SLC12A3 | c.2924+2T>A (n.2924+2T>A) c.2921+2T>A (n.2921+2T>A) c.2951+2T>A (n.2951+2T>A) c.2948+2T>A (n.2948+2T>A) n.357T>A | |
16 | g.56904464T>C | CA396002699 | SLC12A3 | c.2924+2T>C (n.2924+2T>C) c.2921+2T>C (n.2921+2T>C) c.2951+2T>C (n.2951+2T>C) c.2948+2T>C (n.2948+2T>C) n.357T>C | |
16 | g.56904464T>G | CA396002702 | SLC12A3 | c.2924+2T>G (n.2924+2T>G) c.2921+2T>G (n.2921+2T>G) c.2951+2T>G (n.2951+2T>G) c.2948+2T>G (n.2948+2T>G) n.357T>G | gnomAD v4 |
16 | g.56904465A= | CA2224365759 | SLC12A3 | c.2924+3A= (n.2924+3A=) c.2921+3A= (n.2921+3A=) c.2951+3A= (n.2951+3A=) c.2948+3A= (n.2948+3A=) n.358A= | |
16 | g.56904465A>C | CA622342565 | SLC12A3 | c.2924+3A>C (n.2924+3A>C) c.2921+3A>C (n.2921+3A>C) c.2951+3A>C (n.2951+3A>C) c.2948+3A>C (n.2948+3A>C) n.358A>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904466A= | CA2224365760 | SLC12A3 | c.2924+4A= (n.2924+4A=) c.2921+4A= (n.2921+4A=) c.2951+4A= (n.2951+4A=) c.2948+4A= (n.2948+4A=) n.359A= | |
16 | g.56904466A>T | CA622342566 | SLC12A3 | c.2924+4A>T (n.2924+4A>T) c.2921+4A>T (n.2921+4A>T) c.2951+4A>T (n.2951+4A>T) c.2948+4A>T (n.2948+4A>T) n.359A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904469_56904471del | CA2576002407 | SLC12A3 | c.2924+7_2924+9del (n.2924+7_2924+9del) c.2921+7_2921+9del (n.2921+7_2921+9del) c.2951+7_2951+9del (n.2951+7_2951+9del) c.2948+7_2948+9del (n.2948+7_2948+9del) n.362_364del | ClinVar gnomAD v4 |
16 | g.56904467G>A | CA977656561 | SLC12A3 | c.2924+5G>A (n.2924+5G>A) c.2921+5G>A (n.2921+5G>A) c.2951+5G>A (n.2951+5G>A) c.2948+5G>A (n.2948+5G>A) n.360G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904467G= | CA2224365761 | SLC12A3 | c.2924+5G= (n.2924+5G=) c.2921+5G= (n.2921+5G=) c.2951+5G= (n.2951+5G=) c.2948+5G= (n.2948+5G=) n.360G= | |
16 | g.56904468T>C | CA495613602 | SLC12A3 | c.2924+6T>C (n.2924+6T>C) c.2921+6T>C (n.2921+6T>C) c.2951+6T>C (n.2951+6T>C) c.2948+6T>C (n.2948+6T>C) n.361T>C | |
16 | g.56904468_56904542dup | CA2633380934 | SLC12A3 | c.2924+6_2924+80dup (n.2924+6_2924+80dup) c.2921+6_2921+80dup (n.2921+6_2921+80dup) c.2951+6_2951+80dup (n.2951+6_2951+80dup) c.2948+6_2948+80dup (n.2948+6_2948+80dup) n.361_435dup | gnomAD v4 |
16 | g.56904469A= | CA2224365762 | SLC12A3 | c.2924+7A= (n.2924+7A=) c.2921+7A= (n.2921+7A=) c.2951+7A= (n.2951+7A=) c.2948+7A= (n.2948+7A=) n.362A= | |
16 | g.56904469A>T | CA2224365763 | SLC12A3 | c.2924+7A>T (n.2924+7A>T) c.2921+7A>T (n.2921+7A>T) c.2951+7A>T (n.2951+7A>T) c.2948+7A>T (n.2948+7A>T) n.362A>T | dbSNP |
16 | g.56904470G>A | CA2633380938 | SLC12A3 | c.2924+8G>A (n.2924+8G>A) c.2921+8G>A (n.2921+8G>A) c.2951+8G>A (n.2951+8G>A) c.2948+8G>A (n.2948+8G>A) n.363G>A | ClinVar gnomAD v4 |
16 | g.56904471T>A | CA2580091679 | SLC12A3 | c.2924+9T>A (n.2924+9T>A) c.2921+9T>A (n.2921+9T>A) c.2951+9T>A (n.2951+9T>A) c.2948+9T>A (n.2948+9T>A) n.364T>A | ClinVar gnomAD v4 |
16 | g.56904471T>C | CA622342567 | SLC12A3 | c.2924+9T>C (n.2924+9T>C) c.2921+9T>C (n.2921+9T>C) c.2951+9T>C (n.2951+9T>C) c.2948+9T>C (n.2948+9T>C) n.364T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904471T= | CA2224365764 | SLC12A3 | c.2924+9T= (n.2924+9T=) c.2921+9T= (n.2921+9T=) c.2951+9T= (n.2951+9T=) c.2948+9T= (n.2948+9T=) n.364T= | |
16 | g.56904471dup | CA2633380950 | SLC12A3 | c.2924+9dup (n.2924+9dup) c.2921+9dup (n.2921+9dup) c.2951+9dup (n.2951+9dup) c.2948+9dup (n.2948+9dup) n.364dup | gnomAD v4 |
16 | g.56904472G>A | CA2224365766 | SLC12A3 | c.2924+10G>A (n.2924+10G>A) c.2921+10G>A (n.2921+10G>A) c.2951+10G>A (n.2951+10G>A) c.2948+10G>A (n.2948+10G>A) n.365G>A | ClinVar dbSNP gnomAD v4 |
16 | g.56904472G= | CA2224365765 | SLC12A3 | c.2924+10G= (n.2924+10G=) c.2921+10G= (n.2921+10G=) c.2951+10G= (n.2951+10G=) c.2948+10G= (n.2948+10G=) n.365G= | |
16 | g.56904472G>T | CA8070149 | SLC12A3 | c.2924+10G>T (n.2924+10G>T) c.2921+10G>T (n.2921+10G>T) c.2951+10G>T (n.2951+10G>T) c.2948+10G>T (n.2948+10G>T) n.365G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904473C>A | CA2576002408 | SLC12A3 | c.2924+11C>A (n.2924+11C>A) c.2921+11C>A (n.2921+11C>A) c.2951+11C>A (n.2951+11C>A) c.2948+11C>A (n.2948+11C>A) n.366C>A | gnomAD v4 |
16 | g.56904473C>T | CA2633380955 | SLC12A3 | c.2924+11C>T (n.2924+11C>T) c.2921+11C>T (n.2921+11C>T) c.2951+11C>T (n.2951+11C>T) c.2948+11C>T (n.2948+11C>T) n.366C>T | gnomAD v4 |