UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
| 16 | g.56870602G>A | CA622334090 | SLC12A3 | c.742-24G>A (n.742-24G>A) c.739-24G>A (n.739-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870602G= | CA2224349514 | SLC12A3 | c.742-24G= (n.742-24G=) c.739-24G= (n.739-24G=) | |
| 16 | g.56870603C>A | CA2576002022 | SLC12A3 | c.742-23C>A (n.742-23C>A) c.739-23C>A (n.739-23C>A) | gnomAD v4 |
| 16 | g.56870603C>T | CA2633371823 | SLC12A3 | c.742-23C>T (n.742-23C>T) c.739-23C>T (n.739-23C>T) | gnomAD v4 |
| 16 | g.56870604C>A | CA2633371826 | SLC12A3 | c.742-22C>A (n.742-22C>A) c.739-22C>A (n.739-22C>A) | gnomAD v4 |
| 16 | g.56870604C= | CA2224349515 | SLC12A3 | c.742-22C= (n.742-22C=) c.739-22C= (n.739-22C=) | |
| 16 | g.56870604C>T | CA8069188 | SLC12A3 | c.742-22C>T (n.742-22C>T) c.739-22C>T (n.739-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870605T>C | CA2576002023 | SLC12A3 | c.742-21T>C (n.742-21T>C) c.739-21T>C (n.739-21T>C) | |
| 16 | g.56870607del | CA2633371833 | SLC12A3 | c.742-19del (n.742-19del) c.739-19del (n.739-19del) | gnomAD v4 |
| 16 | g.56870607G>A | CA622334092 | SLC12A3 | c.742-19G>A (n.742-19G>A) c.739-19G>A (n.739-19G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870607G= | CA2224349516 | SLC12A3 | c.742-19G= (n.742-19G=) c.739-19G= (n.739-19G=) | |
| 16 | g.56870607G>T | CA2732190974 | SLC12A3 | c.742-19G>T (n.742-19G>T) c.739-19G>T (n.739-19G>T) | dbSNP |
| 16 | g.56870608C>A | CA2633371839 | SLC12A3 | c.742-18C>A (n.742-18C>A) c.739-18C>A (n.739-18C>A) | gnomAD v4 |
| 16 | g.56870608C= | CA2224349517 | SLC12A3 | c.742-18C= (n.742-18C=) c.739-18C= (n.739-18C=) | |
| 16 | g.56870608C>T | CA8069189 | SLC12A3 | c.742-18C>T (n.742-18C>T) c.739-18C>T (n.739-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870609C>A | CA2633371852 | SLC12A3 | c.742-17C>A (n.742-17C>A) c.739-17C>A (n.739-17C>A) | gnomAD v4 |
| 16 | g.56870611A>G | CA2576002024 | SLC12A3 | c.742-15A>G (n.742-15A>G) c.739-15A>G (n.739-15A>G) | ClinVar gnomAD v4 |
| 16 | g.56870615del | CA2633371854 | SLC12A3 | c.742-11del (n.742-11del) c.739-11del (n.739-11del) | gnomAD v4 |
| 16 | g.56870613T>A | CA8069190 | SLC12A3 | c.742-13T>A (n.742-13T>A) c.739-13T>A (n.739-13T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870613T= | CA2224349518 | SLC12A3 | c.742-13T= (n.742-13T=) c.739-13T= (n.739-13T=) | |
| 16 | g.56870615T>C | CA622334095 | SLC12A3 | c.742-11T>C (n.742-11T>C) c.739-11T>C (n.739-11T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870615T= | CA2224349519 | SLC12A3 | c.742-11T= (n.742-11T=) c.739-11T= (n.739-11T=) | |
| 16 | g.56870616C>A | CA2633371864 | SLC12A3 | c.742-10C>A (n.742-10C>A) c.739-10C>A (n.739-10C>A) | gnomAD v4 |
| 16 | g.56870616C>T | CA2576002025 | SLC12A3 | c.742-10C>T (n.742-10C>T) c.739-10C>T (n.739-10C>T) | ClinVar gnomAD v4 |
| 16 | g.56870617C>A | CA2633371867 | SLC12A3 | c.742-9C>A (n.742-9C>A) c.739-9C>A (n.739-9C>A) | gnomAD v4 |
| 16 | g.56870617C>T | CA2633371868 | SLC12A3 | c.742-9C>T (n.742-9C>T) c.739-9C>T (n.739-9C>T) | gnomAD v4 |
| 16 | g.56870618C>A | CA2633371870 | SLC12A3 | c.742-8C>A (n.742-8C>A) c.739-8C>A (n.739-8C>A) | gnomAD v4 |
| 16 | g.56870619T>C | CA2633371871 | SLC12A3 | c.742-7T>C (n.742-7T>C) c.739-7T>C (n.739-7T>C) | gnomAD v4 |
| 16 | g.56870620C>A | CA2576002026 | SLC12A3 | c.742-6C>A (n.742-6C>A) c.739-6C>A (n.739-6C>A) | gnomAD v4 |
| 16 | g.56870620C= | CA2224349520 | SLC12A3 | c.742-6C= (n.742-6C=) c.739-6C= (n.739-6C=) | |
| 16 | g.56870620C>G | CA2224349521 | SLC12A3 | c.742-6C>G (n.742-6C>G) c.739-6C>G (n.739-6C>G) | dbSNP |
| 16 | g.56870620C>T | CA8069191 | SLC12A3 | c.742-6C>T (n.742-6C>T) c.739-6C>T (n.739-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870621C>A | CA2576002027 | SLC12A3 | c.742-5C>A (n.742-5C>A) c.739-5C>A (n.739-5C>A) | gnomAD v4 |
| 16 | g.56870622C>A | CA2576002029 | SLC12A3 | c.742-4C>A (n.742-4C>A) c.739-4C>A (n.739-4C>A) | gnomAD v4 |
| 16 | g.56870622C>T | CA2807159851 | SLC12A3 | c.742-4C>T (n.742-4C>T) c.739-4C>T (n.739-4C>T) | |
| 16 | g.56870623C>A | CA2576002030 | SLC12A3 | c.742-3C>A (n.742-3C>A) c.739-3C>A (n.739-3C>A) | gnomAD v4 |
| 16 | g.56870624A= | CA2224349522 | SLC12A3 | c.742-2A= (n.742-2A=) c.739-2A= (n.739-2A=) | |
| 16 | g.56870624A>C | CA395982104 | SLC12A3 | c.742-2A>C (n.742-2A>C) c.739-2A>C (n.739-2A>C) | dbSNP |
| 16 | g.56870624A>G | CA395982105 | SLC12A3 | c.742-2A>G (n.742-2A>G) c.739-2A>G (n.739-2A>G) | gnomAD v4 |
| 16 | g.56870624A>T | CA395982106 | SLC12A3 | c.742-2A>T (n.742-2A>T) c.739-2A>T (n.739-2A>T) | |
| 16 | g.56870625G>A | CA395982109 | SLC12A3 | c.742-1G>A (n.742-1G>A) c.739-1G>A (n.739-1G>A) | gnomAD v4 |
| 16 | g.56870625G>C | CA395982108 | SLC12A3 | c.742-1G>C (n.742-1G>C) c.739-1G>C (n.739-1G>C) | |
| 16 | g.56870625G>T | CA395982107 | SLC12A3 | c.742-1G>T (n.742-1G>T) c.739-1G>T (n.739-1G>T) | |
| 16 | g.56870626G>A | CA395982110 | SLC12A3 | c.742G>A (p.Glu248Lys) c.739G>A (p.Glu247Lys) | COSMIC |
| 16 | g.56870626G>C | CA395982111 | SLC12A3 | c.742G>C (p.Glu248Gln) c.739G>C (p.Glu247Gln) | |
| 16 | g.56870626G>T | CA395982112 | SLC12A3 | c.742G>T (p.Glu248Ter) c.739G>T (p.Glu247Ter) | |
| 16 | g.56870627A>C | CA395982113 | SLC12A3 | c.743A>C (p.Glu248Ala) c.740A>C (p.Glu247Ala) | |
| 16 | g.56870627A>G | CA395982114 | SLC12A3 | c.743A>G (p.Glu248Gly) c.740A>G (p.Glu247Gly) | gnomAD v4 |
| 16 | g.56870627A>T | CA395982115 | SLC12A3 | c.743A>T (p.Glu248Val) c.740A>T (p.Glu247Val) | |
| 16 | g.56870628G>A | CA8069192 | SLC12A3 | c.744G>A (p.Glu248=) c.741G>A (p.Glu247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870628G>C | CA395982116 | SLC12A3 | c.744G>C (p.Glu248Asp) c.741G>C (p.Glu247Asp) | |
| 16 | g.56870628G= | CA2224349523 | SLC12A3 | c.744G= (p.Glu248=) c.741G= (p.Glu247=) | |
| 16 | g.56870628G>T | CA8069193 | SLC12A3 | c.744G>T (p.Glu248Asp) c.741G>T (p.Glu247Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870629T>A | CA395982117 | SLC12A3 | c.745T>A (p.Tyr249Asn) c.742T>A (p.Tyr248Asn) | |
| 16 | g.56870629T>C | CA8069194 | SLC12A3 | c.745T>C (p.Tyr249His) c.742T>C (p.Tyr248His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870629T>G | CA395982118 | SLC12A3 | c.745T>G (p.Tyr249Asp) c.742T>G (p.Tyr248Asp) | |
| 16 | g.56870629T= | CA2224349524 | SLC12A3 | c.745T= (p.Tyr249=) c.742T= (p.Tyr248=) | |
| 16 | g.56870630A= | CA2224349525 | SLC12A3 | c.746A= (p.Tyr249=) c.743A= (p.Tyr248=) | |
| 16 | g.56870630A>C | CA395982120 | SLC12A3 | c.746A>C (p.Tyr249Ser) c.743A>C (p.Tyr248Ser) | |
| 16 | g.56870630A>G | CA281496999 | SLC12A3 | c.746A>G (p.Tyr249Cys) c.743A>G (p.Tyr248Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870630A>T | CA395982119 | SLC12A3 | c.746A>T (p.Tyr249Phe) c.743A>T (p.Tyr248Phe) | |
| 16 | g.56870631T>A | CA395982121 | SLC12A3 | c.747T>A (p.Tyr249Ter) c.744T>A (p.Tyr248Ter) | |
| 16 | g.56870631T>C | CA8069195 | SLC12A3 | c.747T>C (p.Tyr249=) c.744T>C (p.Tyr248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870631T>G | CA395982122 | SLC12A3 | c.747T>G (p.Tyr249Ter) c.744T>G (p.Tyr248Ter) | |
| 16 | g.56870631T= | CA2224349526 | SLC12A3 | c.747T= (p.Tyr249=) c.744T= (p.Tyr248=) | |
| 16 | g.56870632G>A | CA395982123 | SLC12A3 | c.748G>A (p.Gly250Arg) c.745G>A (p.Gly249Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870632G>C | CA395982124 | SLC12A3 | c.748G>C (p.Gly250Arg) c.745G>C (p.Gly249Arg) | |
| 16 | g.56870632G= | CA2224349527 | SLC12A3 | c.748G= (p.Gly250=) c.745G= (p.Gly249=) | |
| 16 | g.56870632G>T | CA395982125 | SLC12A3 | c.748G>T (p.Gly250Trp) c.745G>T (p.Gly249Trp) | |
| 16 | g.56870635del | CA2580091685 | SLC12A3 | c.751del (p.Ala251HisfsTer?) c.748del (p.Ala250HisfsTer?) | ClinVar |
| 16 | g.56870633G>A | CA395982126 | SLC12A3 | c.749G>A (p.Gly250Glu) c.746G>A (p.Gly249Glu) | |
| 16 | g.56870633G>C | CA395982127 | SLC12A3 | c.749G>C (p.Gly250Ala) c.746G>C (p.Gly249Ala) | |
| 16 | g.56870633G>T | CA395982128 | SLC12A3 | c.749G>T (p.Gly250Val) c.746G>T (p.Gly249Val) | |
| 16 | g.56870634G>A | CA495603163 | SLC12A3 | c.750G>A (p.Gly250=) c.747G>A (p.Gly249=) | ClinVar gnomAD v4 |
| 16 | g.56870634G>C | CA495603164 | SLC12A3 | c.750G>C (p.Gly250=) c.747G>C (p.Gly249=) | |
| 16 | g.56870634G>T | CA495603165 | SLC12A3 | c.750G>T (p.Gly250=) c.747G>T (p.Gly249=) | |
| 16 | g.56870635G>A | CA395982129 | SLC12A3 | c.751G>A (p.Ala251Thr) c.748G>A (p.Ala250Thr) | gnomAD v4 |
| 16 | g.56870635G>C | CA395982130 | SLC12A3 | c.751G>C (p.Ala251Pro) c.748G>C (p.Ala250Pro) | |
| 16 | g.56870635G= | CA2224349528 | SLC12A3 | c.751G= (p.Ala251=) c.748G= (p.Ala250=) | |
| 16 | g.56870635G>T | CA8069196 | SLC12A3 | c.751G>T (p.Ala251Ser) c.748G>T (p.Ala250Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870636C>A | CA395982133 | SLC12A3 | c.752C>A (p.Ala251Glu) c.749C>A (p.Ala250Glu) | |
| 16 | g.56870636C>G | CA395982131 | SLC12A3 | c.752C>G (p.Ala251Gly) c.749C>G (p.Ala250Gly) | |
| 16 | g.56870636C>T | CA395982132 | SLC12A3 | c.752C>T (p.Ala251Val) c.749C>T (p.Ala250Val) | ClinVar gnomAD v4 |
| 16 | g.56870637A>C | CA495603166 | SLC12A3 | c.753A>C (p.Ala251=) c.750A>C (p.Ala250=) | |
| 16 | g.56870637A>G | CA495603167 | SLC12A3 | c.753A>G (p.Ala251=) c.750A>G (p.Ala250=) | |
| 16 | g.56870637A>T | CA495603168 | SLC12A3 | c.753A>T (p.Ala251=) c.750A>T (p.Ala250=) | |
| 16 | g.56870638C>A | CA395982134 | SLC12A3 | c.754C>A (p.Pro252Thr) c.751C>A (p.Pro251Thr) | |
| 16 | g.56870638C= | CA2224349529 | SLC12A3 | c.754C= (p.Pro252=) c.751C= (p.Pro251=) | |
| 16 | g.56870638C>G | CA395982135 | SLC12A3 | c.754C>G (p.Pro252Ala) c.751C>G (p.Pro251Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870638C>T | CA395982136 | SLC12A3 | c.754C>T (p.Pro252Ser) c.751C>T (p.Pro251Ser) | gnomAD v4 |
| 16 | g.56870639C>A | CA395982137 | SLC12A3 | c.755C>A (p.Pro252His) c.752C>A (p.Pro251His) | gnomAD v4 |
| 16 | g.56870639C>G | CA395982138 | SLC12A3 | c.755C>G (p.Pro252Arg) c.752C>G (p.Pro251Arg) | gnomAD v4 |
| 16 | g.56870639C>T | CA395982139 | SLC12A3 | c.755C>T (p.Pro252Leu) c.752C>T (p.Pro251Leu) | |
| 16 | g.56870640C>A | CA495603171 | SLC12A3 | c.756C>A (p.Pro252=) c.753C>A (p.Pro251=) | gnomAD v4 |
| 16 | g.56870640C= | CA2224349530 | SLC12A3 | c.756C= (p.Pro252=) c.753C= (p.Pro251=) | |
| 16 | g.56870640C>G | CA495603170 | SLC12A3 | c.756C>G (p.Pro252=) c.753C>G (p.Pro251=) | |
| 16 | g.56870640C>T | CA495603169 | SLC12A3 | c.756C>T (p.Pro252=) c.753C>T (p.Pro251=) | dbSNP |
| 16 | g.56870640_56870641insGGTGC | CA2732476887 | SLC12A3 | c.756_757insGGTGC (p.Ile253GlyfsTer?) c.753_754insGGTGC (p.Ile252GlyfsTer?) | dbSNP |
| 16 | g.56870641A= | CA2224349531 | SLC12A3 | c.757A= (p.Ile253=) c.754A= (p.Ile252=) | |
| 16 | g.56870641A>C | CA395982140 | SLC12A3 | c.757A>C (p.Ile253Leu) c.754A>C (p.Ile252Leu) | |
| 16 | g.56870641A>G | CA395982141 | SLC12A3 | c.757A>G (p.Ile253Val) c.754A>G (p.Ile252Val) | dbSNP gnomAD v4 |
| 16 | g.56870641A>T | CA395982142 | SLC12A3 | c.757A>T (p.Ile253Phe) c.754A>T (p.Ile252Phe) | |
| 16 | g.56870642T>A | CA395982143 | SLC12A3 | c.758T>A (p.Ile253Asn) c.755T>A (p.Ile252Asn) | |
| 16 | g.56870642T>C | CA395982144 | SLC12A3 | c.758T>C (p.Ile253Thr) c.755T>C (p.Ile252Thr) | |
| 16 | g.56870642T>G | CA395982145 | SLC12A3 | c.758T>G (p.Ile253Ser) c.755T>G (p.Ile252Ser) | |
| 16 | g.56870643C>A | CA495603172 | SLC12A3 | c.759C>A (p.Ile253=) c.756C>A (p.Ile252=) | gnomAD v4 |
| 16 | g.56870643C= | CA2224349532 | SLC12A3 | c.759C= (p.Ile253=) c.756C= (p.Ile252=) | |
| 16 | g.56870643C>G | CA395982146 | SLC12A3 | c.759C>G (p.Ile253Met) c.756C>G (p.Ile252Met) | |
| 16 | g.56870643C>T | CA8069197 | SLC12A3 | c.759C>T (p.Ile253=) c.756C>T (p.Ile252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870644G>A | CA8069199 | SLC12A3 | c.760G>A (p.Val254Met) c.757G>A (p.Val253Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870644G>C | CA395982147 | SLC12A3 | c.760G>C (p.Val254Leu) c.757G>C (p.Val253Leu) | dbSNP gnomAD v4 |
| 16 | g.56870644G= | CA2224349533 | SLC12A3 | c.760G= (p.Val254=) c.757G= (p.Val253=) | |
| 16 | g.56870644G>T | CA8069198 | SLC12A3 | c.760G>T (p.Val254Leu) c.757G>T (p.Val253Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870645T>A | CA395982148 | SLC12A3 | c.761T>A (p.Val254Glu) c.758T>A (p.Val253Glu) | |
| 16 | g.56870645T>C | CA395982149 | SLC12A3 | c.761T>C (p.Val254Ala) c.758T>C (p.Val253Ala) | |
| 16 | g.56870645T>G | CA395982150 | SLC12A3 | c.761T>G (p.Val254Gly) c.758T>G (p.Val253Gly) | |
| 16 | g.56870646G>A | CA495603173 | SLC12A3 | c.762G>A (p.Val254=) c.759G>A (p.Val253=) | gnomAD v4 |
| 16 | g.56870646G>C | CA495603175 | SLC12A3 | c.762G>C (p.Val254=) c.759G>C (p.Val253=) | gnomAD v4 |
| 16 | g.56870646G>T | CA495603174 | SLC12A3 | c.762G>T (p.Val254=) c.759G>T (p.Val253=) | |
| 16 | g.56870647del | CA2633372005 | SLC12A3 | c.763del (p.Asp255ThrfsTer?) c.760del (p.Asp254ThrfsTer?) | gnomAD v4 |
| 16 | g.56870647G>A | CA395982151 | SLC12A3 | c.763G>A (p.Asp255Asn) c.760G>A (p.Asp254Asn) | |
| 16 | g.56870647G>C | CA395982152 | SLC12A3 | c.763G>C (p.Asp255His) c.760G>C (p.Asp254His) | |
| 16 | g.56870647G>T | CA395982153 | SLC12A3 | c.763G>T (p.Asp255Tyr) c.760G>T (p.Asp254Tyr) | |
| 16 | g.56870648A>C | CA395982154 | SLC12A3 | c.764A>C (p.Asp255Ala) c.761A>C (p.Asp254Ala) | |
| 16 | g.56870648A>G | CA395982155 | SLC12A3 | c.764A>G (p.Asp255Gly) c.761A>G (p.Asp254Gly) | |
| 16 | g.56870648A>T | CA395982156 | SLC12A3 | c.764A>T (p.Asp255Val) c.761A>T (p.Asp254Val) | |
| 16 | g.56870649C>A | CA395982157 | SLC12A3 | c.765C>A (p.Asp255Glu) c.762C>A (p.Asp254Glu) | gnomAD v4 |
| 16 | g.56870649C= | CA2224349534 | SLC12A3 | c.765C= (p.Asp255=) c.762C= (p.Asp254=) | |
| 16 | g.56870649C>G | CA395982158 | SLC12A3 | c.765C>G (p.Asp255Glu) c.762C>G (p.Asp254Glu) | |
| 16 | g.56870649C>T | CA281497021 | SLC12A3 | c.765C>T (p.Asp255=) c.762C>T (p.Asp254=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870650C>A | CA395982159 | SLC12A3 | c.766C>A (p.Pro256Thr) c.763C>A (p.Pro255Thr) | gnomAD v4 |
| 16 | g.56870650C= | CA2224349535 | SLC12A3 | c.766C= (p.Pro256=) c.763C= (p.Pro255=) | |
| 16 | g.56870650C>G | CA395982160 | SLC12A3 | c.766C>G (p.Pro256Ala) c.763C>G (p.Pro255Ala) | gnomAD v4 |
| 16 | g.56870650C>T | CA8069200 | SLC12A3 | c.766C>T (p.Pro256Ser) c.763C>T (p.Pro255Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870651C>A | CA395982161 | SLC12A3 | c.767C>A (p.Pro256His) c.764C>A (p.Pro255His) | |
| 16 | g.56870651C>G | CA395982162 | SLC12A3 | c.767C>G (p.Pro256Arg) c.764C>G (p.Pro255Arg) | |
| 16 | g.56870651C>T | CA395982163 | SLC12A3 | c.767C>T (p.Pro256Leu) c.764C>T (p.Pro255Leu) | dbSNP |
| 16 | g.56870652C>A | CA495603176 | SLC12A3 | c.768C>A (p.Pro256=) c.765C>A (p.Pro255=) | |
| 16 | g.56870652C= | CA2224349536 | SLC12A3 | c.768C= (p.Pro256=) c.765C= (p.Pro255=) | |
| 16 | g.56870652C>G | CA495603178 | SLC12A3 | c.768C>G (p.Pro256=) c.765C>G (p.Pro255=) | gnomAD v4 |
| 16 | g.56870652C>T | CA495603177 | SLC12A3 | c.768C>T (p.Pro256=) c.765C>T (p.Pro255=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870653A= | CA2224349537 | SLC12A3 | c.769A= (p.Ile257=) c.766A= (p.Ile256=) | |
| 16 | g.56870653A>C | CA395982164 | SLC12A3 | c.769A>C (p.Ile257Leu) c.766A>C (p.Ile256Leu) | |
| 16 | g.56870653A>G | CA8069201 | SLC12A3 | c.769A>G (p.Ile257Val) c.766A>G (p.Ile256Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870653A>T | CA395982165 | SLC12A3 | c.769A>T (p.Ile257Phe) c.766A>T (p.Ile256Phe) | |
| 16 | g.56870654T>A | CA395982166 | SLC12A3 | c.770T>A (p.Ile257Asn) c.767T>A (p.Ile256Asn) | |
| 16 | g.56870654T>C | CA395982167 | SLC12A3 | c.770T>C (p.Ile257Thr) c.767T>C (p.Ile256Thr) | |
| 16 | g.56870654T>G | CA395982168 | SLC12A3 | c.770T>G (p.Ile257Ser) c.767T>G (p.Ile256Ser) | |
| 16 | g.56870655T>A | CA495603179 | SLC12A3 | c.771T>A (p.Ile257=) c.768T>A (p.Ile256=) | |
| 16 | g.56870655T>C | CA495603180 | SLC12A3 | c.771T>C (p.Ile257=) c.768T>C (p.Ile256=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870655T>G | CA395982169 | SLC12A3 | c.771T>G (p.Ile257Met) c.768T>G (p.Ile256Met) | |
| 16 | g.56870655T= | CA2224349538 | SLC12A3 | c.771T= (p.Ile257=) c.768T= (p.Ile256=) | |
| 16 | g.56870656A>C | CA395982171 | SLC12A3 | c.772A>C (p.Asn258His) c.769A>C (p.Asn257His) | |
| 16 | g.56870656A>G | CA395982172 | SLC12A3 | c.772A>G (p.Asn258Asp) c.769A>G (p.Asn257Asp) | |
| 16 | g.56870656A>T | CA395982170 | SLC12A3 | c.772A>T (p.Asn258Tyr) c.769A>T (p.Asn257Tyr) | |
| 16 | g.56870657A>C | CA395982173 | SLC12A3 | c.773A>C (p.Asn258Thr) c.770A>C (p.Asn257Thr) | |
| 16 | g.56870657A>G | CA395982174 | SLC12A3 | c.773A>G (p.Asn258Ser) c.770A>G (p.Asn257Ser) | |
| 16 | g.56870657A>T | CA395982175 | SLC12A3 | c.773A>T (p.Asn258Ile) c.770A>T (p.Asn257Ile) | |
| 16 | g.56870658C>A | CA395982176 | SLC12A3 | c.774C>A (p.Asn258Lys) c.771C>A (p.Asn257Lys) | |
| 16 | g.56870658C= | CA2224349539 | SLC12A3 | c.774C= (p.Asn258=) c.771C= (p.Asn257=) | |
| 16 | g.56870658C>G | CA395982177 | SLC12A3 | c.774C>G (p.Asn258Lys) c.771C>G (p.Asn257Lys) | |
| 16 | g.56870658C>T | CA8069202 | SLC12A3 | c.774C>T (p.Asn258=) c.771C>T (p.Asn257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870659G>A | CA8069203 | SLC12A3 | c.775G>A (p.Asp259Asn) c.772G>A (p.Asp258Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870659G>C | CA395982178 | SLC12A3 | c.775G>C (p.Asp259His) c.772G>C (p.Asp258His) | |
| 16 | g.56870659G= | CA2224349540 | SLC12A3 | c.775G= (p.Asp259=) c.772G= (p.Asp258=) | |
| 16 | g.56870659G>T | CA395982179 | SLC12A3 | c.775G>T (p.Asp259Tyr) c.772G>T (p.Asp258Tyr) | gnomAD v4 |
| 16 | g.56870660A= | CA2224349541 | SLC12A3 | c.776A= (p.Asp259=) c.773A= (p.Asp258=) | |
| 16 | g.56870660A>C | CA395982180 | SLC12A3 | c.776A>C (p.Asp259Ala) c.773A>C (p.Asp258Ala) | |
| 16 | g.56870660A>G | CA395982181 | SLC12A3 | c.776A>G (p.Asp259Gly) c.773A>G (p.Asp258Gly) | |
| 16 | g.56870660A>T | CA395982182 | SLC12A3 | c.776A>T (p.Asp259Val) c.773A>T (p.Asp258Val) | dbSNP gnomAD v4 |
| 16 | g.56870661C>A | CA395982183 | SLC12A3 | c.777C>A (p.Asp259Glu) c.774C>A (p.Asp258Glu) | |
| 16 | g.56870661C= | CA2224349542 | SLC12A3 | c.777C= (p.Asp259=) c.774C= (p.Asp258=) | |
| 16 | g.56870661C>G | CA395982184 | SLC12A3 | c.777C>G (p.Asp259Glu) c.774C>G (p.Asp258Glu) | |
| 16 | g.56870661C>T | CA495603181 | SLC12A3 | c.777C>T (p.Asp259=) c.774C>T (p.Asp258=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870662A>C | CA395982185 | SLC12A3 | c.778A>C (p.Ile260Leu) c.775A>C (p.Ile259Leu) | gnomAD v4 |
| 16 | g.56870662A>G | CA395982187 | SLC12A3 | c.778A>G (p.Ile260Val) c.775A>G (p.Ile259Val) | |
| 16 | g.56870662A>T | CA395982186 | SLC12A3 | c.778A>T (p.Ile260Phe) c.775A>T (p.Ile259Phe) | |
| 16 | g.56870663T>A | CA395982188 | SLC12A3 | c.779T>A (p.Ile260Asn) c.776T>A (p.Ile259Asn) | |
| 16 | g.56870663T>C | CA395982189 | SLC12A3 | c.779T>C (p.Ile260Thr) c.776T>C (p.Ile259Thr) | ClinVar dbSNP |
| 16 | g.56870663T>G | CA395982190 | SLC12A3 | c.779T>G (p.Ile260Ser) c.776T>G (p.Ile259Ser) | |
| 16 | g.56870663T= | CA2224349543 | SLC12A3 | c.779T= (p.Ile260=) c.776T= (p.Ile259=) | |
| 16 | g.56870664C>A | CA495603182 | SLC12A3 | c.780C>A (p.Ile260=) c.777C>A (p.Ile259=) | |
| 16 | g.56870664C>G | CA395982191 | SLC12A3 | c.780C>G (p.Ile260Met) c.777C>G (p.Ile259Met) | |
| 16 | g.56870664C>T | CA495603183 | SLC12A3 | c.780C>T (p.Ile260=) c.777C>T (p.Ile259=) | gnomAD v4 |
| 16 | g.56870665C>A | CA395982192 | SLC12A3 | c.781C>A (p.Arg261Ser) c.778C>A (p.Arg260Ser) | dbSNP |
| 16 | g.56870665C= | CA2224349544 | SLC12A3 | c.781C= (p.Arg261=) c.778C= (p.Arg260=) | |
| 16 | g.56870665C>G | CA395982193 | SLC12A3 | c.781C>G (p.Arg261Gly) c.778C>G (p.Arg260Gly) | |
| 16 | g.56870665C>T | CA8069204 | SLC12A3 | c.781C>T (p.Arg261Cys) c.778C>T (p.Arg260Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870666G>A | CA281497034 | SLC12A3 | c.782G>A (p.Arg261His) c.779G>A (p.Arg260His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870666G>C | CA395982194 | SLC12A3 | c.782G>C (p.Arg261Pro) c.779G>C (p.Arg260Pro) | dbSNP |
| 16 | g.56870666G= | CA2224349545 | SLC12A3 | c.782G= (p.Arg261=) c.779G= (p.Arg260=) | |
| 16 | g.56870666G>T | CA395982195 | SLC12A3 | c.782G>T (p.Arg261Leu) c.779G>T (p.Arg260Leu) | |
| 16 | g.56870667C>A | CA495603184 | SLC12A3 | c.783C>A (p.Arg261=) c.780C>A (p.Arg260=) | |
| 16 | g.56870667C>G | CA495603186 | SLC12A3 | c.783C>G (p.Arg261=) c.780C>G (p.Arg260=) | |
| 16 | g.56870667C>T | CA495603185 | SLC12A3 | c.783C>T (p.Arg261=) c.780C>T (p.Arg260=) | |
| 16 | g.56870668A= | CA2224349546 | SLC12A3 | c.784A= (p.Ile262=) c.781A= (p.Ile261=) | |
| 16 | g.56870668A>C | CA395982196 | SLC12A3 | c.784A>C (p.Ile262Leu) c.781A>C (p.Ile261Leu) | |
| 16 | g.56870668A>G | CA395982197 | SLC12A3 | c.784A>G (p.Ile262Val) c.781A>G (p.Ile261Val) | |
| 16 | g.56870668A>T | CA395982198 | SLC12A3 | c.784A>T (p.Ile262Phe) c.781A>T (p.Ile261Phe) | |
| 16 | g.56870668_56870669insGGCGTGGTCTCGG | CA2695223675 | SLC12A3 | c.784_785insGGCGTGGTCTCGG (p.Ile262ArgfsTer?) c.781_782insGGCGTGGTCTCGG (p.Ile261ArgfsTer?) | |
| 16 | g.56870669T>A | CA395982199 | SLC12A3 | c.785T>A (p.Ile262Asn) c.782T>A (p.Ile261Asn) | |
| 16 | g.56870669T>C | CA395982200 | SLC12A3 | c.785T>C (p.Ile262Thr) c.782T>C (p.Ile261Thr) | |
| 16 | g.56870669T>G | CA8069205 | SLC12A3 | c.785T>G (p.Ile262Ser) c.782T>G (p.Ile261Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870669T= | CA2224349547 | SLC12A3 | c.785T= (p.Ile262=) c.782T= (p.Ile261=) | |
| 16 | g.56870674_56870675insGCGTGGTCTCGGTCATTG | CA722005635 | SLC12A3 | c.790_791insGCGTGGTCTCGGTCATTG (p.Ile263_Ala264insGlyValValSerValIle) c.787_788insGCGTGGTCTCGGTCATTG (p.Ile262_Ala263insGlyValValSerValIle) c.790_791insGCGTGGTCTCGGTCATTG (p.Gly264_Val265insValValSerValIleGly) c.787_788insGCGTGGTCTCGGTCATTG (p.Gly263_Val264insValValSerValIleGly) | dbSNP |
| 16 | g.56870672_56870689dup | CA2695223676 | SLC12A3 | c.788_805dup (p.Val268_Thr269insIleAlaValValSerVal) c.785_802dup (p.Val267_Thr268insIleAlaValValSerVal) | |
| 16 | g.56870670C>A | CA495603187 | SLC12A3 | c.786C>A (p.Ile262=) c.783C>A (p.Ile261=) | |
| 16 | g.56870670C>G | CA395982201 | SLC12A3 | c.786C>G (p.Ile262Met) c.783C>G (p.Ile261Met) | |
| 16 | g.56870670C>T | CA495603188 | SLC12A3 | c.786C>T (p.Ile262=) c.783C>T (p.Ile261=) | ClinVar |
| 16 | g.56870671A= | CA2224349548 | SLC12A3 | c.787A= (p.Ile263=) c.784A= (p.Ile262=) | |
| 16 | g.56870671A>C | CA395982202 | SLC12A3 | c.787A>C (p.Ile263Leu) c.784A>C (p.Ile262Leu) | |
| 16 | g.56870671A>G | CA395982204 | SLC12A3 | c.787A>G (p.Ile263Val) c.784A>G (p.Ile262Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56870671A>T | CA395982203 | SLC12A3 | c.787A>T (p.Ile263Phe) c.784A>T (p.Ile262Phe) | |
| 16 | g.56870672T>A | CA395982205 | SLC12A3 | c.788T>A (p.Ile263Asn) c.785T>A (p.Ile262Asn) | |
| 16 | g.56870672T>C | CA8069206 | SLC12A3 | c.788T>C (p.Ile263Thr) c.785T>C (p.Ile262Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870672T>G | CA395982206 | SLC12A3 | c.788T>G (p.Ile263Ser) c.785T>G (p.Ile262Ser) | |
| 16 | g.56870672T= | CA2224349549 | SLC12A3 | c.788T= (p.Ile263=) c.785T= (p.Ile262=) | |
| 16 | g.56870673T>A | CA495603189 | SLC12A3 | c.789T>A (p.Ile263=) c.786T>A (p.Ile262=) | |
| 16 | g.56870673T>C | CA495603190 | SLC12A3 | c.789T>C (p.Ile263=) c.786T>C (p.Ile262=) | |
| 16 | g.56870673T>G | CA395982207 | SLC12A3 | c.789T>G (p.Ile263Met) c.786T>G (p.Ile262Met) | |
| 16 | g.56870673T= | CA2224349550 | SLC12A3 | c.789T= (p.Ile263=) c.786T= (p.Ile262=) | |
| 16 | g.56870674G>A | CA395982208 | SLC12A3 | c.790G>A (p.Ala264Thr) c.787G>A (p.Ala263Thr) c.790G>A (p.Gly264Ser) c.787G>A (p.Gly263Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870674G>C | CA395982209 | SLC12A3 | c.790G>C (p.Ala264Pro) c.787G>C (p.Ala263Pro) c.790G>C (p.Gly264Arg) c.787G>C (p.Gly263Arg) | |
| 16 | g.56870674G= | CA2224349551 | SLC12A3 | c.790G= (p.Ala264=) c.787G= (p.Ala263=) c.790G= (p.Gly264=) c.787G= (p.Gly263=) | |
| 16 | g.56870674G>T | CA395982210 | SLC12A3 | c.790G>T (p.Ala264Ser) c.787G>T (p.Ala263Ser) c.790G>T (p.Gly264Cys) c.787G>T (p.Gly263Cys) | |
| 16 | g.56870674dup | CA8069207 | SLC12A3 | c.790dup (p.Ala264GlyfsTer?) c.787dup (p.Ala263GlyfsTer?) c.790dup (p.Val265ArgfsTer?) c.787dup (p.Val264ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870674_56870675delinsGC | CA2224349552 | SLC12A3 | c.790_791delinsGC (p.Ala264=) c.787_788delinsGC (p.Ala263=) | |
| 16 | g.56870675C>A | CA395982211 | SLC12A3 | c.791C>A (p.Ala264Asp) c.788C>A (p.Ala263Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870675C= | CA2224349553 | SLC12A3 | c.791C= (p.Ala264=) c.788C= (p.Ala263=) | |
| 16 | g.56870675C>G | CA8069208 | SLC12A3 | c.791C>G (p.Ala264Gly) c.788C>G (p.Ala263Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870675C>T | CA395982212 | SLC12A3 | c.791C>T (p.Ala264Val) c.788C>T (p.Ala263Val) | |
| 16 | g.56870675delinsGCGTGGTCTCGGTCATTGG | CA1139664709 | SLC12A3 | c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly) c.788delinsGCGTGGTCTCGGTCATTGG (p.Ala263delinsGlyValValSerValIleGly) | ClinVar dbSNP |
| 16 | g.56870675_56870676delinsGA | CA2573152449 | SLC12A3 | c.791_792delinsGA (p.Ala264Gly) c.788_789delinsGA (p.Ala263Gly) | ClinVar dbSNP |
| 16 | g.56870675_56870676delinsGT | CA2499223589 | SLC12A3 | c.791_792delinsGT (p.Ala264Gly) c.788_789delinsGT (p.Ala263Gly) | dbSNP |
| 16 | g.56870675_56870676insGTGGTCTCGGTCATTGG | CA8069209 | SLC12A3 | c.791_792insGTGGTCTCGGTCATTGG (p.Val265TrpfsTer?) c.788_789insGTGGTCTCGGTCATTGG (p.Val264TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870676C>A | CA495603192 | SLC12A3 | c.792C>A (p.Ala264=) c.789C>A (p.Ala263=) c.792C>A (p.Gly264=) c.789C>A (p.Gly263=) | gnomAD v4 |
| 16 | g.56870676C= | CA2224349554 | SLC12A3 | c.792C= (p.Ala264=) c.789C= (p.Ala263=) c.792C= (p.Gly264=) c.789C= (p.Gly263=) | |
| 16 | g.56870676C>G | CA495603191 | SLC12A3 | c.792C>G (p.Ala264=) c.789C>G (p.Ala263=) c.792C>G (p.Gly264=) c.789C>G (p.Gly263=) | |
| 16 | g.56870676C>T | CA8069210 | SLC12A3 | c.792C>T (p.Ala264=) c.789C>T (p.Ala263=) c.792C>T (p.Gly264=) c.789C>T (p.Gly263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870689_56870690insTTGGCGTGGTCTCGGTCA | CA2695201714 | SLC12A3 | c.805_806insTTGGCGTGGTCTCGGTCA (p.Val268_Thr269insIleGlyValValSerVal) c.802_803insTTGGCGTGGTCTCGGTCA (p.Val267_Thr268insIleGlyValValSerVal) | |
| 16 | g.56870677G>A | CA8069211 | SLC12A3 | c.793G>A (p.Val265Met) c.790G>A (p.Val264Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870677G>C | CA395982214 | SLC12A3 | c.793G>C (p.Val265Leu) c.790G>C (p.Val264Leu) | dbSNP |
| 16 | g.56870677G= | CA2224349555 | SLC12A3 | c.793G= (p.Val265=) c.790G= (p.Val264=) | |
| 16 | g.56870677G>T | CA395982213 | SLC12A3 | c.793G>T (p.Val265Leu) c.790G>T (p.Val264Leu) | |
| 16 | g.56870678T>A | CA395982215 | SLC12A3 | c.794T>A (p.Val265Glu) c.791T>A (p.Val264Glu) | |
| 16 | g.56870678T>C | CA395982216 | SLC12A3 | c.794T>C (p.Val265Ala) c.791T>C (p.Val264Ala) | |
| 16 | g.56870678T>G | CA395982217 | SLC12A3 | c.794T>G (p.Val265Gly) c.791T>G (p.Val264Gly) | dbSNP |
| 16 | g.56870679G>A | CA8069212 | SLC12A3 | c.795G>A (p.Val265=) c.792G>A (p.Val264=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870679G>C | CA495603193 | SLC12A3 | c.795G>C (p.Val265=) c.792G>C (p.Val264=) | |
| 16 | g.56870679G= | CA2224349556 | SLC12A3 | c.795G= (p.Val265=) c.792G= (p.Val264=) | |
| 16 | g.56870679G>T | CA495603194 | SLC12A3 | c.795G>T (p.Val265=) c.792G>T (p.Val264=) | |
| 16 | g.56870680G>A | CA395982218 | SLC12A3 | c.796G>A (p.Val266Ile) c.793G>A (p.Val265Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56870680G>C | CA395982219 | SLC12A3 | c.796G>C (p.Val266Leu) c.793G>C (p.Val265Leu) | |
| 16 | g.56870680G= | CA2224349557 | SLC12A3 | c.796G= (p.Val266=) c.793G= (p.Val265=) | |
| 16 | g.56870680G>T | CA395982220 | SLC12A3 | c.796G>T (p.Val266Phe) c.793G>T (p.Val265Phe) | |
| 16 | g.56870681T>A | CA395982221 | SLC12A3 | c.797T>A (p.Val266Asp) c.794T>A (p.Val265Asp) | |
| 16 | g.56870681T>C | CA395982222 | SLC12A3 | c.797T>C (p.Val266Ala) c.794T>C (p.Val265Ala) | |
| 16 | g.56870681T>G | CA395982223 | SLC12A3 | c.797T>G (p.Val266Gly) c.794T>G (p.Val265Gly) | |
| 16 | g.56870682C>A | CA495603195 | SLC12A3 | c.798C>A (p.Val266=) c.795C>A (p.Val265=) | |
| 16 | g.56870682C>G | CA495603196 | SLC12A3 | c.798C>G (p.Val266=) c.795C>G (p.Val265=) | ClinVar gnomAD v3 gnomAD v4 |
| 16 | g.56870682C>T | CA495603197 | SLC12A3 | c.798C>T (p.Val266=) c.795C>T (p.Val265=) | |
| 16 | g.56870683T>A | CA8069213 | SLC12A3 | c.799T>A (p.Ser267Thr) c.796T>A (p.Ser266Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870683T>C | CA395982225 | SLC12A3 | c.799T>C (p.Ser267Pro) c.796T>C (p.Ser266Pro) | |
| 16 | g.56870683T>G | CA395982224 | SLC12A3 | c.799T>G (p.Ser267Ala) c.796T>G (p.Ser266Ala) | |
| 16 | g.56870683T= | CA2224349558 | SLC12A3 | c.799T= (p.Ser267=) c.796T= (p.Ser266=) | |
| 16 | g.56870684C>A | CA395982226 | SLC12A3 | c.800C>A (p.Ser267Ter) c.797C>A (p.Ser266Ter) | |
| 16 | g.56870684C= | CA2224349559 | SLC12A3 | c.800C= (p.Ser267=) c.797C= (p.Ser266=) | |
| 16 | g.56870684C>G | CA395982227 | SLC12A3 | c.800C>G (p.Ser267Trp) c.797C>G (p.Ser266Trp) | |
| 16 | g.56870684C>T | CA8069214 | SLC12A3 | c.800C>T (p.Ser267Leu) c.797C>T (p.Ser266Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870685G>A | CA8069215 | SLC12A3 | c.801G>A (p.Ser267=) c.798G>A (p.Ser266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.56870685G>C | CA281497059 | SLC12A3 | c.801G>C (p.Ser267=) c.798G>C (p.Ser266=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870685G= | CA2224349560 | SLC12A3 | c.801G= (p.Ser267=) c.798G= (p.Ser266=) | |
| 16 | g.56870685G>T | CA495603198 | SLC12A3 | c.801G>T (p.Ser267=) c.798G>T (p.Ser266=) | |
| 16 | g.56870686G>A | CA8069216 | SLC12A3 | c.802G>A (p.Val268Ile) c.799G>A (p.Val267Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56870686G>C | CA395982228 | SLC12A3 | c.802G>C (p.Val268Leu) c.799G>C (p.Val267Leu) | |
| 16 | g.56870686G= | CA2224349561 | SLC12A3 | c.802G= (p.Val268=) c.799G= (p.Val267=) | |
| 16 | g.56870686G>T | CA8069217 | SLC12A3 | c.802G>T (p.Val268Phe) c.799G>T (p.Val267Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870687T>A | CA281497072 | SLC12A3 | c.803T>A (p.Val268Asp) c.800T>A (p.Val267Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870687T>C | CA395982230 | SLC12A3 | c.803T>C (p.Val268Ala) c.800T>C (p.Val267Ala) | |
| 16 | g.56870687T>G | CA395982229 | SLC12A3 | c.803T>G (p.Val268Gly) c.800T>G (p.Val267Gly) | |
| 16 | g.56870687T= | CA2224349562 | SLC12A3 | c.803T= (p.Val268=) c.800T= (p.Val267=) | |
| 16 | g.56870688C>A | CA495603199 | SLC12A3 | c.804C>A (p.Val268=) c.801C>A (p.Val267=) | |
| 16 | g.56870688C= | CA2224349563 | SLC12A3 | c.804C= (p.Val268=) c.801C= (p.Val267=) | |
| 16 | g.56870688C>G | CA495603200 | SLC12A3 | c.804C>G (p.Val268=) c.801C>G (p.Val267=) | |
| 16 | g.56870688C>T | CA8069218 | SLC12A3 | c.804C>T (p.Val268=) c.801C>T (p.Val267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870689A>C | CA395982231 | SLC12A3 | c.805A>C (p.Thr269Pro) c.802A>C (p.Thr268Pro) | |
| 16 | g.56870689A>G | CA395982232 | SLC12A3 | c.805A>G (p.Thr269Ala) c.802A>G (p.Thr268Ala) | gnomAD v4 COSMIC |
| 16 | g.56870689A>T | CA395982233 | SLC12A3 | c.805A>T (p.Thr269Ser) c.802A>T (p.Thr268Ser) | |
| 16 | g.56870689_56870690insTTGGCGTGGTCTCGGTCG | CA2739290804 | SLC12A3 | c.805_806insTTGGCGTGGTCTCGGTCG (p.Thr269delinsIleGlyValValSerValAla) c.802_803insTTGGCGTGGTCTCGGTCG (p.Thr268delinsIleGlyValValSerValAla) | |
| 16 | g.56870690C>A | CA395982234 | SLC12A3 | c.806C>A (p.Thr269Asn) c.803C>A (p.Thr268Asn) | |
| 16 | g.56870690C>G | CA395982236 | SLC12A3 | c.806C>G (p.Thr269Ser) c.803C>G (p.Thr268Ser) | |
| 16 | g.56870690C>T | CA395982235 | SLC12A3 | c.806C>T (p.Thr269Ile) c.803C>T (p.Thr268Ile) | |
| 16 | g.56870691T>A | CA495603203 | SLC12A3 | c.807T>A (p.Thr269=) c.804T>A (p.Thr268=) | |
| 16 | g.56870691T>C | CA495603202 | SLC12A3 | c.807T>C (p.Thr269=) c.804T>C (p.Thr268=) | |
| 16 | g.56870691T>G | CA495603201 | SLC12A3 | c.807T>G (p.Thr269=) c.804T>G (p.Thr268=) | |
| 16 | g.56870692G>A | CA395982237 | SLC12A3 | c.808G>A (p.Val270Met) c.805G>A (p.Val269Met) | |
| 16 | g.56870692G>C | CA395982238 | SLC12A3 | c.808G>C (p.Val270Leu) c.805G>C (p.Val269Leu) | |
| 16 | g.56870692G>T | CA395982239 | SLC12A3 | c.808G>T (p.Val270Leu) c.805G>T (p.Val269Leu) | |
| 16 | g.56870693T>A | CA395982240 | SLC12A3 | c.809T>A (p.Val270Glu) c.806T>A (p.Val269Glu) | |
| 16 | g.56870693T>C | CA395982241 | SLC12A3 | c.809T>C (p.Val270Ala) c.806T>C (p.Val269Ala) | gnomAD v4 |
| 16 | g.56870693T>G | CA395982242 | SLC12A3 | c.809T>G (p.Val270Gly) c.806T>G (p.Val269Gly) | |
| 16 | g.56870694G>A | CA495603205 | SLC12A3 | c.810G>A (p.Val270=) c.807G>A (p.Val269=) | dbSNP gnomAD v2 |
| 16 | g.56870694G>C | CA495603207 | SLC12A3 | c.810G>C (p.Val270=) c.807G>C (p.Val269=) | |
| 16 | g.56870694G= | CA2224349564 | SLC12A3 | c.810G= (p.Val270=) c.807G= (p.Val269=) | |
| 16 | g.56870694G>T | CA495603206 | SLC12A3 | c.810G>T (p.Val270=) c.807G>T (p.Val269=) | |
| 16 | g.56870695C>A | CA395982243 | SLC12A3 | c.811C>A (p.Leu271Met) c.808C>A (p.Leu270Met) | |
| 16 | g.56870695C>G | CA395982244 | SLC12A3 | c.811C>G (p.Leu271Val) c.808C>G (p.Leu270Val) | |
| 16 | g.56870695C>T | CA495603208 | SLC12A3 | c.811C>T (p.Leu271=) c.808C>T (p.Leu270=) | ClinVar |
| 16 | g.56870696T>A | CA395982245 | SLC12A3 | c.812T>A (p.Leu271Gln) c.809T>A (p.Leu270Gln) | |
| 16 | g.56870696T>C | CA395982246 | SLC12A3 | c.812T>C (p.Leu271Pro) c.809T>C (p.Leu270Pro) | gnomAD v4 |
| 16 | g.56870696T>G | CA395982247 | SLC12A3 | c.812T>G (p.Leu271Arg) c.809T>G (p.Leu270Arg) | |
| 16 | g.56870697G>A | CA495603209 | SLC12A3 | c.813G>A (p.Leu271=) c.810G>A (p.Leu270=) | |
| 16 | g.56870697G>C | CA495603210 | SLC12A3 | c.813G>C (p.Leu271=) c.810G>C (p.Leu270=) | |
| 16 | g.56870697G>T | CA495603211 | SLC12A3 | c.813G>T (p.Leu271=) c.810G>T (p.Leu270=) | ClinVar gnomAD v4 |
| 16 | g.56870698C>A | CA395982249 | SLC12A3 | c.814C>A (p.Leu272Met) c.811C>A (p.Leu271Met) | gnomAD v4 |
| 16 | g.56870698C>G | CA395982248 | SLC12A3 | c.814C>G (p.Leu272Val) c.811C>G (p.Leu271Val) | |
| 16 | g.56870698C>T | CA495603212 | SLC12A3 | c.814C>T (p.Leu272=) c.811C>T (p.Leu271=) | |
| 16 | g.56870698_56870699insCAGCCAGGGAGA | CA2633372152 | SLC12A3 | c.814_815insCAGCCAGGGAGA (p.Leu272delinsProAlaArgGluMet) c.811_812insCAGCCAGGGAGA (p.Leu271delinsProAlaArgGluMet) | gnomAD v4 |
| 16 | g.56870699T>A | CA395982250 | SLC12A3 | c.815T>A (p.Leu272Gln) c.812T>A (p.Leu271Gln) | |
| 16 | g.56870699T>C | CA250393 | SLC12A3 | c.815T>C (p.Leu272Pro) c.812T>C (p.Leu271Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870699T>G | CA395982251 | SLC12A3 | c.815T>G (p.Leu272Arg) c.812T>G (p.Leu271Arg) | |
| 16 | g.56870699T= | CA2224349565 | SLC12A3 | c.815T= (p.Leu272=) c.812T= (p.Leu271=) | |
| 16 | g.56870700G>A | CA495603214 | SLC12A3 | c.816G>A (p.Leu272=) c.813G>A (p.Leu271=) | |
| 16 | g.56870700G>C | CA495603215 | SLC12A3 | c.816G>C (p.Leu272=) c.813G>C (p.Leu271=) | |
| 16 | g.56870700G>T | CA495603216 | SLC12A3 | c.816G>T (p.Leu272=) c.813G>T (p.Leu271=) | |
| 16 | g.56870701dup | CA495603213 | SLC12A3 | c.817dup (p.Ala273GlyfsTer?) c.814dup (p.Ala272GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56870701G>A | CA395982252 | SLC12A3 | c.817G>A (p.Ala273Thr) c.814G>A (p.Ala272Thr) | gnomAD v4 |
| 16 | g.56870701G>C | CA395982253 | SLC12A3 | c.817G>C (p.Ala273Pro) c.814G>C (p.Ala272Pro) | gnomAD v4 |
| 16 | g.56870701G>T | CA395982254 | SLC12A3 | c.817G>T (p.Ala273Ser) c.814G>T (p.Ala272Ser) | |
| 16 | g.56870702C>A | CA395982255 | SLC12A3 | c.818C>A (p.Ala273Asp) c.815C>A (p.Ala272Asp) | |
| 16 | g.56870702C>G | CA395982256 | SLC12A3 | c.818C>G (p.Ala273Gly) c.815C>G (p.Ala272Gly) | |
| 16 | g.56870702C>T | CA395982257 | SLC12A3 | c.818C>T (p.Ala273Val) c.815C>T (p.Ala272Val) |