Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56870181_56870191delinsGGGTGTGGCCA | CA2224349316 | SLC12A3 | c.687_697delinsGGGTGTGGCCA (p.Val229=) c.684_694delinsGGGTGTGGCCA (p.Val228=) | |
16 | g.56870182_56870191del | CA622333954 | SLC12A3 | c.688_697del (p.Gly230CysfsTer?) c.685_694del (p.Gly229CysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870185G>A | CA395981997 | SLC12A3 | c.691G>A (p.Val231Met) c.688G>A (p.Val230Met) | dbSNP gnomAD v4 |
16 | g.56870185G>C | CA395981998 | SLC12A3 | c.691G>C (p.Val231Leu) c.688G>C (p.Val230Leu) | |
16 | g.56870185G= | CA2224349318 | SLC12A3 | c.691G= (p.Val231=) c.688G= (p.Val230=) | |
16 | g.56870185G>T | CA395981999 | SLC12A3 | c.691G>T (p.Val231Leu) c.688G>T (p.Val230Leu) | |
16 | g.56870186T>A | CA395982000 | SLC12A3 | c.692T>A (p.Val231Glu) c.689T>A (p.Val230Glu) | |
16 | g.56870186T>C | CA395982001 | SLC12A3 | c.692T>C (p.Val231Ala) c.689T>C (p.Val230Ala) | |
16 | g.56870186T>G | CA395982002 | SLC12A3 | c.692T>G (p.Val231Gly) c.689T>G (p.Val230Gly) | |
16 | g.56870187G>A | CA495603123 | SLC12A3 | c.693G>A (p.Val231=) c.690G>A (p.Val230=) | |
16 | g.56870187G>C | CA495603124 | SLC12A3 | c.693G>C (p.Val231=) c.690G>C (p.Val230=) | |
16 | g.56870187G>T | CA495603125 | SLC12A3 | c.693G>T (p.Val231=) c.690G>T (p.Val230=) | |
16 | g.56870187_56870189del | CA2695223672 | SLC12A3 | c.693_695del (p.Ala232del) c.690_692del (p.Ala231del) | |
16 | g.56870188G>A | CA8069150 | SLC12A3 | c.694G>A (p.Ala232Thr) c.691G>A (p.Ala231Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870188G>C | CA395982004 | SLC12A3 | c.694G>C (p.Ala232Pro) c.691G>C (p.Ala231Pro) | |
16 | g.56870188G= | CA2224349319 | SLC12A3 | c.694G= (p.Ala232=) c.691G= (p.Ala231=) | |
16 | g.56870188G>T | CA395982003 | SLC12A3 | c.694G>T (p.Ala232Ser) c.691G>T (p.Ala231Ser) | |
16 | g.56870189C>A | CA395982005 | SLC12A3 | c.695C>A (p.Ala232Asp) c.692C>A (p.Ala231Asp) | gnomAD v4 |
16 | g.56870189C= | CA2224349320 | SLC12A3 | c.695C= (p.Ala232=) c.692C= (p.Ala231=) | |
16 | g.56870189C>G | CA395982006 | SLC12A3 | c.695C>G (p.Ala232Gly) c.692C>G (p.Ala231Gly) | |
16 | g.56870189C>T | CA395982007 | SLC12A3 | c.695C>T (p.Ala232Val) c.692C>T (p.Ala231Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870190C>A | CA495603126 | SLC12A3 | c.696C>A (p.Ala232=) c.693C>A (p.Ala231=) | |
16 | g.56870190C>G | CA495603127 | SLC12A3 | c.696C>G (p.Ala232=) c.693C>G (p.Ala231=) | |
16 | g.56870190C>T | CA495603128 | SLC12A3 | c.696C>T (p.Ala232=) c.693C>T (p.Ala231=) | ClinVar |
16 | g.56870190_56870201del | CA2695223673 | SLC12A3 | c.696_707del (p.Met233_Val236del) c.693_704del (p.Met232_Val235del) | |
16 | g.56870191A= | CA2224349321 | SLC12A3 | c.697A= (p.Met233=) c.694A= (p.Met232=) | |
16 | g.56870191A>C | CA395982008 | SLC12A3 | c.697A>C (p.Met233Leu) c.694A>C (p.Met232Leu) | |
16 | g.56870191A>G | CA216098 | SLC12A3 | c.697A>G (p.Met233Val) c.694A>G (p.Met232Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870191A>T | CA395982009 | SLC12A3 | c.697A>T (p.Met233Leu) c.694A>T (p.Met232Leu) | gnomAD v4 |
16 | g.56870191_56870199del | CA2633371196 | SLC12A3 | c.697_705del (p.Met233_Thr235del) c.694_702del (p.Met232_Thr234del) | gnomAD v4 |
16 | g.56870192T>A | CA395982010 | SLC12A3 | c.698T>A (p.Met233Lys) c.695T>A (p.Met232Lys) | |
16 | g.56870192T>C | CA395982011 | SLC12A3 | c.698T>C (p.Met233Thr) c.695T>C (p.Met232Thr) | |
16 | g.56870192T>G | CA395982012 | SLC12A3 | c.698T>G (p.Met233Arg) c.695T>G (p.Met232Arg) | |
16 | g.56870193G>A | CA395982013 | SLC12A3 | c.699G>A (p.Met233Ile) c.696G>A (p.Met232Ile) | |
16 | g.56870193G>C | CA395982014 | SLC12A3 | c.699G>C (p.Met233Ile) c.696G>C (p.Met232Ile) | |
16 | g.56870193G>T | CA395982015 | SLC12A3 | c.699G>T (p.Met233Ile) c.696G>T (p.Met232Ile) | |
16 | g.56870194C>A | CA395982018 | SLC12A3 | c.700C>A (p.His234Asn) c.697C>A (p.His233Asn) | |
16 | g.56870194C>G | CA395982017 | SLC12A3 | c.700C>G (p.His234Asp) c.697C>G (p.His233Asp) | |
16 | g.56870194C>T | CA395982016 | SLC12A3 | c.700C>T (p.His234Tyr) c.697C>T (p.His233Tyr) | |
16 | g.56870195A>C | CA395982019 | SLC12A3 | c.701A>C (p.His234Pro) c.698A>C (p.His233Pro) | |
16 | g.56870195A>G | CA395982021 | SLC12A3 | c.701A>G (p.His234Arg) c.698A>G (p.His233Arg) | |
16 | g.56870195A>T | CA395982020 | SLC12A3 | c.701A>T (p.His234Leu) c.698A>T (p.His233Leu) | |
16 | g.56870196C>A | CA395982022 | SLC12A3 | c.702C>A (p.His234Gln) c.699C>A (p.His233Gln) | |
16 | g.56870196C>G | CA395982023 | SLC12A3 | c.702C>G (p.His234Gln) c.699C>G (p.His233Gln) | |
16 | g.56870196C>T | CA495603129 | SLC12A3 | c.702C>T (p.His234=) c.699C>T (p.His233=) | |
16 | g.56870197A= | CA2224349322 | SLC12A3 | c.703A= (p.Thr235=) c.700A= (p.Thr234=) | |
16 | g.56870197A>C | CA395982024 | SLC12A3 | c.703A>C (p.Thr235Pro) c.700A>C (p.Thr234Pro) | |
16 | g.56870197A>G | CA395982025 | SLC12A3 | c.703A>G (p.Thr235Ala) c.700A>G (p.Thr234Ala) | gnomAD v4 |
16 | g.56870197A>T | CA395982026 | SLC12A3 | c.703A>T (p.Thr235Ser) c.700A>T (p.Thr234Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870198C>A | CA395982027 | SLC12A3 | c.704C>A (p.Thr235Lys) c.701C>A (p.Thr234Lys) | |
16 | g.56870198C= | CA2224349323 | SLC12A3 | c.704C= (p.Thr235=) c.701C= (p.Thr234=) | |
16 | g.56870198C>G | CA395982028 | SLC12A3 | c.704C>G (p.Thr235Arg) c.701C>G (p.Thr234Arg) | gnomAD v4 |
16 | g.56870198C>T | CA8069151 | SLC12A3 | c.704C>T (p.Thr235Met) c.701C>T (p.Thr234Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870199G>A | CA8069152 | SLC12A3 | c.705G>A (p.Thr235=) c.702G>A (p.Thr234=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870199G>C | CA495603131 | SLC12A3 | c.705G>C (p.Thr235=) c.702G>C (p.Thr234=) | |
16 | g.56870199G= | CA2224349324 | SLC12A3 | c.705G= (p.Thr235=) c.702G= (p.Thr234=) | |
16 | g.56870199G>T | CA495603130 | SLC12A3 | c.705G>T (p.Thr235=) c.702G>T (p.Thr234=) | |
16 | g.56870200G>A | CA395982029 | SLC12A3 | c.706G>A (p.Val236Met) c.703G>A (p.Val235Met) | |
16 | g.56870200G>C | CA395982030 | SLC12A3 | c.706G>C (p.Val236Leu) c.703G>C (p.Val235Leu) | |
16 | g.56870200G= | CA2224349325 | SLC12A3 | c.706G= (p.Val236=) c.703G= (p.Val235=) | |
16 | g.56870200G>T | CA395982031 | SLC12A3 | c.706G>T (p.Val236Leu) c.703G>T (p.Val235Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870201T>A | CA395982032 | SLC12A3 | c.707T>A (p.Val236Glu) c.704T>A (p.Val235Glu) | |
16 | g.56870201T>C | CA395982033 | SLC12A3 | c.707T>C (p.Val236Ala) c.704T>C (p.Val235Ala) | gnomAD v4 |
16 | g.56870201T>G | CA395982034 | SLC12A3 | c.707T>G (p.Val236Gly) c.704T>G (p.Val235Gly) | |
16 | g.56870202G>A | CA495603134 | SLC12A3 | c.708G>A (p.Val236=) c.705G>A (p.Val235=) | |
16 | g.56870202G>C | CA495603133 | SLC12A3 | c.708G>C (p.Val236=) c.705G>C (p.Val235=) | |
16 | g.56870202G>T | CA495603132 | SLC12A3 | c.708G>T (p.Val236=) c.705G>T (p.Val235=) | |
16 | g.56870203G>A | CA395982035 | SLC12A3 | c.709G>A (p.Gly237Ser) c.706G>A (p.Gly236Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56870203G>C | CA395982037 | SLC12A3 | c.709G>C (p.Gly237Arg) c.706G>C (p.Gly236Arg) | |
16 | g.56870203G= | CA2224349326 | SLC12A3 | c.709G= (p.Gly237=) c.706G= (p.Gly236=) | |
16 | g.56870203G>T | CA395982036 | SLC12A3 | c.709G>T (p.Gly237Cys) c.706G>T (p.Gly236Cys) | |
16 | g.56870204G>A | CA395982038 | SLC12A3 | c.710G>A (p.Gly237Asp) c.707G>A (p.Gly236Asp) | gnomAD v4 |
16 | g.56870204G>C | CA395982039 | SLC12A3 | c.710G>C (p.Gly237Ala) c.707G>C (p.Gly236Ala) | ClinVar |
16 | g.56870204G>T | CA395982040 | SLC12A3 | c.710G>T (p.Gly237Val) c.707G>T (p.Gly236Val) | |
16 | g.56870205C>A | CA495603135 | SLC12A3 | c.711C>A (p.Gly237=) c.708C>A (p.Gly236=) | ClinVar |
16 | g.56870205C= | CA2224349327 | SLC12A3 | c.711C= (p.Gly237=) c.708C= (p.Gly236=) | |
16 | g.56870205C>G | CA495603137 | SLC12A3 | c.711C>G (p.Gly237=) c.708C>G (p.Gly236=) | |
16 | g.56870205C>T | CA495603136 | SLC12A3 | c.711C>T (p.Gly237=) c.708C>T (p.Gly236=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870206T>A | CA395982041 | SLC12A3 | c.712T>A (p.Phe238Ile) c.709T>A (p.Phe237Ile) | |
16 | g.56870206T>C | CA395982042 | SLC12A3 | c.712T>C (p.Phe238Leu) c.709T>C (p.Phe237Leu) | |
16 | g.56870206T>G | CA395982043 | SLC12A3 | c.712T>G (p.Phe238Val) c.709T>G (p.Phe237Val) | |
16 | g.56870207T>A | CA395982044 | SLC12A3 | c.713T>A (p.Phe238Tyr) c.710T>A (p.Phe237Tyr) | |
16 | g.56870207T>C | CA395982045 | SLC12A3 | c.713T>C (p.Phe238Ser) c.710T>C (p.Phe237Ser) | |
16 | g.56870207T>G | CA395982046 | SLC12A3 | c.713T>G (p.Phe238Cys) c.710T>G (p.Phe237Cys) | |
16 | g.56870208T>A | CA395982047 | SLC12A3 | c.714T>A (p.Phe238Leu) c.711T>A (p.Phe237Leu) | |
16 | g.56870208T>C | CA495603138 | SLC12A3 | c.714T>C (p.Phe238=) c.711T>C (p.Phe237=) | ClinVar gnomAD v4 |
16 | g.56870208T>G | CA395982048 | SLC12A3 | c.714T>G (p.Phe238Leu) c.711T>G (p.Phe237Leu) | |
16 | g.56870209G>A | CA395982049 | SLC12A3 | c.715G>A (p.Ala239Thr) c.712G>A (p.Ala238Thr) | gnomAD v4 |
16 | g.56870209G>C | CA395982051 | SLC12A3 | c.715G>C (p.Ala239Pro) c.712G>C (p.Ala238Pro) | |
16 | g.56870209G>T | CA395982050 | SLC12A3 | c.715G>T (p.Ala239Ser) c.712G>T (p.Ala238Ser) | |
16 | g.56870210C>A | CA395982052 | SLC12A3 | c.716C>A (p.Ala239Glu) c.713C>A (p.Ala238Glu) | |
16 | g.56870210C>G | CA395982053 | SLC12A3 | c.716C>G (p.Ala239Gly) c.713C>G (p.Ala238Gly) | |
16 | g.56870210C>T | CA395982054 | SLC12A3 | c.716C>T (p.Ala239Val) c.713C>T (p.Ala238Val) | |
16 | g.56870211A>C | CA495603139 | SLC12A3 | c.717A>C (p.Ala239=) c.714A>C (p.Ala238=) | |
16 | g.56870211A>G | CA495603140 | SLC12A3 | c.717A>G (p.Ala239=) c.714A>G (p.Ala238=) | |
16 | g.56870211A>T | CA495603141 | SLC12A3 | c.717A>T (p.Ala239=) c.714A>T (p.Ala238=) | |
16 | g.56870212G>A | CA395982055 | SLC12A3 | c.718G>A (p.Glu240Lys) c.715G>A (p.Glu239Lys) | |
16 | g.56870212G>C | CA395982056 | SLC12A3 | c.718G>C (p.Glu240Gln) c.715G>C (p.Glu239Gln) | |
16 | g.56870212G>T | CA395982057 | SLC12A3 | c.718G>T (p.Glu240Ter) c.715G>T (p.Glu239Ter) | |
16 | g.56870213A>C | CA395982058 | SLC12A3 | c.719A>C (p.Glu240Ala) c.716A>C (p.Glu239Ala) | |
16 | g.56870213A>G | CA395982059 | SLC12A3 | c.719A>G (p.Glu240Gly) c.716A>G (p.Glu239Gly) | ClinVar dbSNP |
16 | g.56870213A>T | CA395982060 | SLC12A3 | c.719A>T (p.Glu240Val) c.716A>T (p.Glu239Val) | |
16 | g.56870214G>A | CA8069153 | SLC12A3 | c.720G>A (p.Glu240=) c.717G>A (p.Glu239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870214G>C | CA395982061 | SLC12A3 | c.720G>C (p.Glu240Asp) c.717G>C (p.Glu239Asp) | |
16 | g.56870214G= | CA2224349328 | SLC12A3 | c.720G= (p.Glu240=) c.717G= (p.Glu239=) | |
16 | g.56870214G>T | CA395982062 | SLC12A3 | c.720G>T (p.Glu240Asp) c.717G>T (p.Glu239Asp) | |
16 | g.56870215A= | CA2224349329 | SLC12A3 | c.721A= (p.Thr241=) c.718A= (p.Thr240=) | |
16 | g.56870215A>C | CA395982064 | SLC12A3 | c.721A>C (p.Thr241Pro) c.718A>C (p.Thr240Pro) | gnomAD v4 |
16 | g.56870215A>G | CA8069154 | SLC12A3 | c.721A>G (p.Thr241Ala) c.718A>G (p.Thr240Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870215A>T | CA395982063 | SLC12A3 | c.721A>T (p.Thr241Ser) c.718A>T (p.Thr240Ser) | |
16 | g.56870216C>A | CA395982065 | SLC12A3 | c.722C>A (p.Thr241Asn) c.719C>A (p.Thr240Asn) | |
16 | g.56870216C= | CA2224349330 | SLC12A3 | c.722C= (p.Thr241=) c.719C= (p.Thr240=) | |
16 | g.56870216C>G | CA395982066 | SLC12A3 | c.722C>G (p.Thr241Ser) c.719C>G (p.Thr240Ser) | |
16 | g.56870216C>T | CA395982067 | SLC12A3 | c.722C>T (p.Thr241Ile) c.719C>T (p.Thr240Ile) | gnomAD v2 gnomAD v4 |
16 | g.56870217del | CA2697555854 | SLC12A3 | c.723del (p.Val242CysfsTer?) c.720del (p.Val241CysfsTer?) | ClinVar |
16 | g.56870217C>A | CA495603144 | SLC12A3 | c.723C>A (p.Thr241=) c.720C>A (p.Thr240=) | |
16 | g.56870217C= | CA2224349331 | SLC12A3 | c.723C= (p.Thr241=) c.720C= (p.Thr240=) | |
16 | g.56870217C>G | CA495603145 | SLC12A3 | c.723C>G (p.Thr241=) c.720C>G (p.Thr240=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870217C>T | CA8069155 | SLC12A3 | c.723C>T (p.Thr241=) c.720C>T (p.Thr240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56870219_56870222dup | CA622333971 | SLC12A3 | c.725_728dup (p.Asp244AlafsTer16) c.722_725dup (p.Asp243AlafsTer16) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870217_56870218insTGCTCCAGGTGAGGCCTG | CA2224349332 | SLC12A3 | c.723_724insTGCTCCAGGTGAGGCCTG c.720_721insTGCTCCAGGTGAGGCCTG | dbSNP |
16 | g.56870218G>A | CA8069157 | SLC12A3 | c.724G>A (p.Val242Met) c.721G>A (p.Val241Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56870218G>C | CA395982068 | SLC12A3 | c.724G>C (p.Val242Leu) c.721G>C (p.Val241Leu) | dbSNP |
16 | g.56870218G= | CA2224349333 | SLC12A3 | c.724G= (p.Val242=) c.721G= (p.Val241=) | |
16 | g.56870218G>T | CA8069156 | SLC12A3 | c.724G>T (p.Val242Leu) c.721G>T (p.Val241Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870219_56870220del | CA2695223674 | SLC12A3 | c.725_726del (p.Val242AlafsTer16) c.722_723del (p.Val241AlafsTer16) | |
16 | g.56870219T>A | CA395982069 | SLC12A3 | c.725T>A (p.Val242Glu) c.722T>A (p.Val241Glu) | |
16 | g.56870219T>C | CA8069158 | SLC12A3 | c.725T>C (p.Val242Ala) c.722T>C (p.Val241Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870219T>G | CA395982070 | SLC12A3 | c.725T>G (p.Val242Gly) c.722T>G (p.Val241Gly) | |
16 | g.56870219T= | CA2224349334 | SLC12A3 | c.725T= (p.Val242=) c.722T= (p.Val241=) | |
16 | g.56870222_56870230del | CA2633371244 | SLC12A3 | c.728_736del (p.Arg243_Leu245del) c.725_733del (p.Arg242_Leu244del) | gnomAD v4 |
16 | g.56870220G>A | CA8069159 | SLC12A3 | c.726G>A (p.Val242=) c.723G>A (p.Val241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870220G>C | CA495603146 | SLC12A3 | c.726G>C (p.Val242=) c.723G>C (p.Val241=) | |
16 | g.56870220G= | CA2224349335 | SLC12A3 | c.726G= (p.Val242=) c.723G= (p.Val241=) | |
16 | g.56870220G>T | CA495603147 | SLC12A3 | c.726G>T (p.Val242=) c.723G>T (p.Val241=) | gnomAD v4 |
16 | g.56870221C>A | CA495603148 | SLC12A3 | c.727C>A (p.Arg243=) c.724C>A (p.Arg242=) | gnomAD v4 |
16 | g.56870221C= | CA2224349336 | SLC12A3 | c.727C= (p.Arg243=) c.724C= (p.Arg242=) | |
16 | g.56870221C>G | CA395982071 | SLC12A3 | c.727C>G (p.Arg243Gly) c.724C>G (p.Arg242Gly) | gnomAD v4 |
16 | g.56870221C>T | CA8069160 | SLC12A3 | c.727C>T (p.Arg243Trp) c.724C>T (p.Arg242Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56870221_56870222insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT | CA2633371254 | SLC12A3 | c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT (p.Arg243ProfsTer?) c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT (p.Arg242ProfsTer?) | gnomAD v4 |
16 | g.56870222G>A | CA8069161 | SLC12A3 | c.728G>A (p.Arg243Gln) c.725G>A (p.Arg242Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870222G>C | CA395982073 | SLC12A3 | c.728G>C (p.Arg243Pro) c.725G>C (p.Arg242Pro) | |
16 | g.56870222G= | CA2224349337 | SLC12A3 | c.728G= (p.Arg243=) c.725G= (p.Arg242=) | |
16 | g.56870222G>T | CA395982072 | SLC12A3 | c.728G>T (p.Arg243Leu) c.725G>T (p.Arg242Leu) | |
16 | g.56870223G>A | CA495603149 | SLC12A3 | c.729G>A (p.Arg243=) c.726G>A (p.Arg242=) | |
16 | g.56870223G>C | CA495603150 | SLC12A3 | c.729G>C (p.Arg243=) c.726G>C (p.Arg242=) | |
16 | g.56870223G>T | CA495603151 | SLC12A3 | c.729G>T (p.Arg243=) c.726G>T (p.Arg242=) | |
16 | g.56870224G>A | CA395982074 | SLC12A3 | c.730G>A (p.Asp244Asn) c.727G>A (p.Asp243Asn) | gnomAD v4 |
16 | g.56870224G>C | CA395982075 | SLC12A3 | c.730G>C (p.Asp244His) c.727G>C (p.Asp243His) | gnomAD v4 |
16 | g.56870224G>T | CA395982076 | SLC12A3 | c.730G>T (p.Asp244Tyr) c.727G>T (p.Asp243Tyr) | gnomAD v4 |
16 | g.56870225A>C | CA395982077 | SLC12A3 | c.731A>C (p.Asp244Ala) c.728A>C (p.Asp243Ala) | |
16 | g.56870225A>G | CA395982078 | SLC12A3 | c.731A>G (p.Asp244Gly) c.728A>G (p.Asp243Gly) | |
16 | g.56870225A>T | CA395982079 | SLC12A3 | c.731A>T (p.Asp244Val) c.728A>T (p.Asp243Val) | |
16 | g.56870226C>A | CA8069162 | SLC12A3 | c.732C>A (p.Asp244Glu) c.729C>A (p.Asp243Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870226C= | CA2224349338 | SLC12A3 | c.732C= (p.Asp244=) c.729C= (p.Asp243=) | |
16 | g.56870226C>G | CA395982080 | SLC12A3 | c.732C>G (p.Asp244Glu) c.729C>G (p.Asp243Glu) | |
16 | g.56870226C>T | CA495603152 | SLC12A3 | c.732C>T (p.Asp244=) c.729C>T (p.Asp243=) | ClinVar gnomAD v4 |
16 | g.56870227C>A | CA8069163 | SLC12A3 | c.733C>A (p.Leu245Met) c.730C>A (p.Leu244Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870227C= | CA2224349339 | SLC12A3 | c.733C= (p.Leu245=) c.730C= (p.Leu244=) | |
16 | g.56870227C>G | CA395982081 | SLC12A3 | c.733C>G (p.Leu245Val) c.730C>G (p.Leu244Val) | |
16 | g.56870227C>T | CA495603153 | SLC12A3 | c.733C>T (p.Leu245=) c.730C>T (p.Leu244=) | gnomAD v4 |
16 | g.56870228T>A | CA395982082 | SLC12A3 | c.734T>A (p.Leu245Gln) c.731T>A (p.Leu244Gln) | |
16 | g.56870228T>C | CA8069164 | SLC12A3 | c.734T>C (p.Leu245Pro) c.731T>C (p.Leu244Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870228T>G | CA395982083 | SLC12A3 | c.734T>G (p.Leu245Arg) c.731T>G (p.Leu244Arg) | |
16 | g.56870228T= | CA2224349340 | SLC12A3 | c.734T= (p.Leu245=) c.731T= (p.Leu244=) | |
16 | g.56870229G>A | CA8069165 | SLC12A3 | c.735G>A (p.Leu245=) c.732G>A (p.Leu244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870229G>C | CA495603154 | SLC12A3 | c.735G>C (p.Leu245=) c.732G>C (p.Leu244=) | dbSNP gnomAD v2 |
16 | g.56870229G= | CA2224349341 | SLC12A3 | c.735G= (p.Leu245=) c.732G= (p.Leu244=) | |
16 | g.56870229G>T | CA495603155 | SLC12A3 | c.735G>T (p.Leu245=) c.732G>T (p.Leu244=) | |
16 | g.56870230C>A | CA395982084 | SLC12A3 | c.736C>A (p.Leu246Ile) c.733C>A (p.Leu245Ile) | dbSNP gnomAD v4 |
16 | g.56870230C= | CA2224349342 | SLC12A3 | c.736C= (p.Leu246=) c.733C= (p.Leu245=) | |
16 | g.56870230C>G | CA395982085 | SLC12A3 | c.736C>G (p.Leu246Val) c.733C>G (p.Leu245Val) | |
16 | g.56870230C>T | CA395982086 | SLC12A3 | c.736C>T (p.Leu246Phe) c.733C>T (p.Leu245Phe) | gnomAD v4 |
16 | g.56870231T>A | CA395982087 | SLC12A3 | c.737T>A (p.Leu246His) c.734T>A (p.Leu245His) | |
16 | g.56870231T>C | CA395982088 | SLC12A3 | c.737T>C (p.Leu246Pro) c.734T>C (p.Leu245Pro) | gnomAD v4 |
16 | g.56870231T>G | CA395982089 | SLC12A3 | c.737T>G (p.Leu246Arg) c.734T>G (p.Leu245Arg) | |
16 | g.56870232C>A | CA495603156 | SLC12A3 | c.738C>A (p.Leu246=) c.735C>A (p.Leu245=) | dbSNP gnomAD v2 |
16 | g.56870232C= | CA2224349343 | SLC12A3 | c.738C= (p.Leu246=) c.735C= (p.Leu245=) | |
16 | g.56870232C>G | CA495603158 | SLC12A3 | c.738C>G (p.Leu246=) c.735C>G (p.Leu245=) | ClinVar dbSNP |
16 | g.56870232C>T | CA495603157 | SLC12A3 | c.738C>T (p.Leu246=) c.735C>T (p.Leu245=) | ClinVar dbSNP |
16 | g.56870233C>A | CA395982090 | SLC12A3 | c.739C>A (p.Gln247Lys) c.736C>A (p.Gln246Lys) | |
16 | g.56870233C>G | CA395982091 | SLC12A3 | c.739C>G (p.Gln247Glu) c.736C>G (p.Gln246Glu) | |
16 | g.56870233C>T | CA395982092 | SLC12A3 | c.739C>T (p.Gln247Ter) c.736C>T (p.Gln246Ter) | |
16 | g.56870234A>C | CA395982093 | SLC12A3 | c.740A>C (p.Gln247Pro) c.737A>C (p.Gln246Pro) | gnomAD v4 |
16 | g.56870234A>G | CA395982094 | SLC12A3 | c.740A>G (p.Gln247Arg) c.737A>G (p.Gln246Arg) | gnomAD v4 |
16 | g.56870234A>T | CA395982095 | SLC12A3 | c.740A>T (p.Gln247Leu) c.737A>T (p.Gln246Leu) | |
16 | g.56870235G>A | CA495603159 | SLC12A3 | c.741G>A (p.Gln247=) c.738G>A (p.Gln246=) | gnomAD v4 |
16 | g.56870235G>C | CA395982096 | SLC12A3 | c.741G>C (p.Gln247His) c.738G>C (p.Gln246His) | |
16 | g.56870235G>T | CA395982097 | SLC12A3 | c.741G>T (p.Gln247His) c.738G>T (p.Gln246His) | |
16 | g.56870236G>A | CA395982098 | SLC12A3 | c.741+1G>A (n.741+1G>A) c.738+1G>A (n.738+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870236G>C | CA395982100 | SLC12A3 | c.741+1G>C (n.741+1G>C) c.738+1G>C (n.738+1G>C) | |
16 | g.56870236G= | CA2224349344 | SLC12A3 | c.741+1G= (n.741+1G=) c.738+1G= (n.738+1G=) | |
16 | g.56870236G>T | CA395982099 | SLC12A3 | c.741+1G>T (n.741+1G>T) c.738+1G>T (n.738+1G>T) | gnomAD v4 |
16 | g.56870237_56870240dup | CA2633371272 | SLC12A3 | c.741+2_741+5dup (n.741+2_741+5dup) c.738+2_738+5dup (n.738+2_738+5dup) | gnomAD v4 |
16 | g.56870237T>A | CA395982101 | SLC12A3 | c.741+2T>A (n.741+2T>A) c.738+2T>A (n.738+2T>A) | |
16 | g.56870237T>C | CA395982102 | SLC12A3 | c.741+2T>C (n.741+2T>C) c.738+2T>C (n.738+2T>C) | gnomAD v3 gnomAD v4 |
16 | g.56870237T>G | CA395982103 | SLC12A3 | c.741+2T>G (n.741+2T>G) c.738+2T>G (n.738+2T>G) | ClinVar gnomAD v4 |
16 | g.56870238G>A | CA622333988 | SLC12A3 | c.741+3G>A (n.741+3G>A) c.738+3G>A (n.738+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870238G= | CA2224349345 | SLC12A3 | c.741+3G= (n.741+3G=) c.738+3G= (n.738+3G=) | |
16 | g.56870238G>T | CA2633371288 | SLC12A3 | c.741+3G>T (n.741+3G>T) c.738+3G>T (n.738+3G>T) | gnomAD v4 |
16 | g.56870239A>C | CA2633371290 | SLC12A3 | c.741+4A>C (n.741+4A>C) c.738+4A>C (n.738+4A>C) | gnomAD v4 |
16 | g.56870239A>G | CA2697555855 | SLC12A3 | c.741+4A>G (n.741+4A>G) c.738+4A>G (n.738+4A>G) | ClinVar |
16 | g.56870240G>A | CA2633371291 | SLC12A3 | c.741+5G>A (n.741+5G>A) c.738+5G>A (n.738+5G>A) | gnomAD v4 |
16 | g.56870241G>A | CA977638134 | SLC12A3 | c.741+6G>A (n.741+6G>A) c.738+6G>A (n.738+6G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870241G= | CA2224349346 | SLC12A3 | c.741+6G= (n.741+6G=) c.738+6G= (n.738+6G=) | |
16 | g.56870241G>T | CA2633371292 | SLC12A3 | c.741+6G>T (n.741+6G>T) c.738+6G>T (n.738+6G>T) | gnomAD v4 |
16 | g.56870242C>A | CA2633371293 | SLC12A3 | c.741+7C>A (n.741+7C>A) c.738+7C>A (n.738+7C>A) | gnomAD v4 |
16 | g.56870242C= | CA2224349347 | SLC12A3 | c.741+7C= (n.741+7C=) c.738+7C= (n.738+7C=) | |
16 | g.56870242C>T | CA8069166 | SLC12A3 | c.741+7C>T (n.741+7C>T) c.738+7C>T (n.738+7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870243C>A | CA722005303 | SLC12A3 | c.741+8C>A (n.741+8C>A) c.738+8C>A (n.738+8C>A) | dbSNP |
16 | g.56870243C= | CA2224349349 | SLC12A3 | c.741+8C= (n.741+8C=) c.738+8C= (n.738+8C=) | |
16 | g.56870243C>G | CA8069169 | SLC12A3 | c.741+8C>G (n.741+8C>G) c.738+8C>G (n.738+8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870243C>T | CA8069167 | SLC12A3 | c.741+8C>T (n.741+8C>T) c.738+8C>T (n.738+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870243_56870244delinsCG | CA2224349348 | SLC12A3 | c.741+8_741+9delinsCG (n.741+8_741+9delinsCG) c.738+8_738+9delinsCG (n.738+8_738+9delinsCG) | |
16 | g.56870244G>A | CA8069170 | SLC12A3 | c.741+9G>A (n.741+9G>A) c.738+9G>A (n.738+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870244G= | CA2224349350 | SLC12A3 | c.741+9G= (n.741+9G=) c.738+9G= (n.738+9G=) | |
16 | g.56870244G>T | CA622333994 | SLC12A3 | c.741+9G>T (n.741+9G>T) c.738+9G>T (n.738+9G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870249dup | CA622333997 | SLC12A3 | c.741+14dup (n.741+14dup) c.738+14dup (n.738+14dup) | ClinVar gnomAD v2 gnomAD v4 |
16 | g.56870249del | CA8069168 | SLC12A3 | c.741+14del (n.741+14del) c.738+14del (n.738+14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870245G>A | CA2576001961 | SLC12A3 | c.741+10G>A (n.741+10G>A) c.738+10G>A (n.738+10G>A) | |
16 | g.56870245G>C | CA2697555856 | SLC12A3 | c.741+10G>C (n.741+10G>C) c.738+10G>C (n.738+10G>C) | ClinVar |
16 | g.56870245G>T | CA2633371304 | SLC12A3 | c.741+10G>T (n.741+10G>T) c.738+10G>T (n.738+10G>T) | gnomAD v4 |
16 | g.56870246G>A | CA977638150 | SLC12A3 | c.741+11G>A (n.741+11G>A) c.738+11G>A (n.738+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870246G>C | CA2633371306 | SLC12A3 | c.741+11G>C (n.741+11G>C) c.738+11G>C (n.738+11G>C) | gnomAD v4 |
16 | g.56870246G= | CA2224349351 | SLC12A3 | c.741+11G= (n.741+11G=) c.738+11G= (n.738+11G=) | |
16 | g.56870246G>T | CA2633371307 | SLC12A3 | c.741+11G>T (n.741+11G>T) c.738+11G>T (n.738+11G>T) | gnomAD v4 |
16 | g.56870247G>T | CA2576001963 | SLC12A3 | c.741+12G>T (n.741+12G>T) c.738+12G>T (n.738+12G>T) | ClinVar gnomAD v4 |
16 | g.56870248G>A | CA8069172 | SLC12A3 | c.741+13G>A (n.741+13G>A) c.738+13G>A (n.738+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870248G= | CA2224349352 | SLC12A3 | c.741+13G= (n.741+13G=) c.738+13G= (n.738+13G=) | |
16 | g.56870248G>T | CA8069171 | SLC12A3 | c.741+13G>T (n.741+13G>T) c.738+13G>T (n.738+13G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870249G>A | CA8069173 | SLC12A3 | c.741+14G>A (n.741+14G>A) c.738+14G>A (n.738+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870249G>C | CA622334008 | SLC12A3 | c.741+14G>C (n.741+14G>C) c.738+14G>C (n.738+14G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870249G= | CA2224349353 | SLC12A3 | c.741+14G= (n.741+14G=) c.738+14G= (n.738+14G=) | |
16 | g.56870249G>T | CA2633371311 | SLC12A3 | c.741+14G>T (n.741+14G>T) c.738+14G>T (n.738+14G>T) | gnomAD v4 |
16 | g.56870250C= | CA2224349354 | SLC12A3 | c.741+15C= (n.741+15C=) c.738+15C= (n.738+15C=) | |
16 | g.56870250C>T | CA622334009 | SLC12A3 | c.741+15C>T (n.741+15C>T) c.738+15C>T (n.738+15C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870252G>A | CA2576001965 | SLC12A3 | c.741+17G>A (n.741+17G>A) c.738+17G>A (n.738+17G>A) | gnomAD v4 |
16 | g.56870252G>T | CA2633371313 | SLC12A3 | c.741+17G>T (n.741+17G>T) c.738+17G>T (n.738+17G>T) | gnomAD v4 |
16 | g.56870253G>A | CA2576001966 | SLC12A3 | c.741+18G>A (n.741+18G>A) c.738+18G>A (n.738+18G>A) | |
16 | g.56870253G>C | CA622334010 | SLC12A3 | c.741+18G>C (n.741+18G>C) c.738+18G>C (n.738+18G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870253G= | CA2224349355 | SLC12A3 | c.741+18G= (n.741+18G=) c.738+18G= (n.738+18G=) | |
16 | g.56870253G>T | CA2525600461 | SLC12A3 | c.741+18G>T (n.741+18G>T) c.738+18G>T (n.738+18G>T) | gnomAD v4 |
16 | g.56870254A= | CA2224349356 | SLC12A3 | c.741+19A= (n.741+19A=) c.738+19A= (n.738+19A=) | |
16 | g.56870254A>G | CA622334011 | SLC12A3 | c.741+19A>G (n.741+19A>G) c.738+19A>G (n.738+19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870255C>A | CA8069175 | SLC12A3 | c.741+20C>A (n.741+20C>A) c.738+20C>A (n.738+20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870255C= | CA2224349357 | SLC12A3 | c.741+20C= (n.741+20C=) c.738+20C= (n.738+20C=) | |
16 | g.56870255C>T | CA8069174 | SLC12A3 | c.741+20C>T (n.741+20C>T) c.738+20C>T (n.738+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870256C>A | CA2633371318 | SLC12A3 | c.741+21C>A (n.741+21C>A) c.738+21C>A (n.738+21C>A) | gnomAD v4 |
16 | g.56870257C>A | CA2633371320 | SLC12A3 | c.741+22C>A (n.741+22C>A) c.738+22C>A (n.738+22C>A) | gnomAD v4 |
16 | g.56870257C= | CA2224349358 | SLC12A3 | c.741+22C= (n.741+22C=) c.738+22C= (n.738+22C=) | |
16 | g.56870257C>G | CA2224349359 | SLC12A3 | c.741+22C>G (n.741+22C>G) c.738+22C>G (n.738+22C>G) | dbSNP |
16 | g.56870257C>T | CA622334017 | SLC12A3 | c.741+22C>T (n.741+22C>T) c.738+22C>T (n.738+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870258T>C | CA2224349361 | SLC12A3 | c.741+23T>C (n.741+23T>C) c.738+23T>C (n.738+23T>C) | dbSNP |
16 | g.56870258T>G | CA8069176 | SLC12A3 | c.741+23T>G (n.741+23T>G) c.738+23T>G (n.738+23T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870258T= | CA2224349360 | SLC12A3 | c.741+23T= (n.741+23T=) c.738+23T= (n.738+23T=) | |
16 | g.56870259G>A | CA2633371326 | SLC12A3 | c.741+24G>A (n.741+24G>A) c.738+24G>A (n.738+24G>A) | gnomAD v4 |
16 | g.56870259G>T | CA2633371327 | SLC12A3 | c.741+24G>T (n.741+24G>T) c.738+24G>T (n.738+24G>T) | gnomAD v4 |
16 | g.56870261del | CA2633371325 | SLC12A3 | c.741+26del (n.741+26del) c.738+26del (n.738+26del) | gnomAD v4 |
16 | g.56870260G>T | CA2633371329 | SLC12A3 | c.741+25G>T (n.741+25G>T) c.738+25G>T (n.738+25G>T) | gnomAD v4 |
16 | g.56870261G>A | CA8069177 | SLC12A3 | c.741+26G>A (n.741+26G>A) c.738+26G>A (n.738+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870261G= | CA2224349362 | SLC12A3 | c.741+26G= (n.741+26G=) c.738+26G= (n.738+26G=) | |
16 | g.56870262T>A | CA8069178 | SLC12A3 | c.741+27T>A (n.741+27T>A) c.738+27T>A (n.738+27T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870262T>G | CA2224349364 | SLC12A3 | c.741+27T>G (n.741+27T>G) c.738+27T>G (n.738+27T>G) | dbSNP |
16 | g.56870262T= | CA2224349363 | SLC12A3 | c.741+27T= (n.741+27T=) c.738+27T= (n.738+27T=) | |
16 | g.56870264G>T | CA2633371333 | SLC12A3 | c.741+29G>T (n.741+29G>T) c.738+29G>T (n.738+29G>T) | gnomAD v4 |
16 | g.56870266G>T | CA2633371334 | SLC12A3 | c.741+31G>T (n.741+31G>T) c.738+31G>T (n.738+31G>T) | gnomAD v4 |
16 | g.56870267G>T | CA2633371335 | SLC12A3 | c.741+32G>T (n.741+32G>T) c.738+32G>T (n.738+32G>T) | gnomAD v4 |
16 | g.56870268G>A | CA622334025 | SLC12A3 | c.741+33G>A (n.741+33G>A) c.738+33G>A (n.738+33G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870268G= | CA2224349365 | SLC12A3 | c.741+33G= (n.741+33G=) c.738+33G= (n.738+33G=) | |
16 | g.56870268G>T | CA2633371337 | SLC12A3 | c.741+33G>T (n.741+33G>T) c.738+33G>T (n.738+33G>T) | gnomAD v4 |
16 | g.56870269A>G | CA2633371339 | SLC12A3 | c.741+34A>G (n.741+34A>G) c.738+34A>G (n.738+34A>G) | gnomAD v4 |
16 | g.56870270T>G | CA2576001975 | SLC12A3 | c.741+35T>G (n.741+35T>G) c.738+35T>G (n.738+35T>G) | gnomAD v4 |
16 | g.56870271C>A | CA2633371340 | SLC12A3 | c.741+36C>A (n.741+36C>A) c.738+36C>A (n.738+36C>A) | gnomAD v4 |
16 | g.56870272C>A | CA2807159830 | SLC12A3 | c.741+37C>A (n.741+37C>A) c.738+37C>A (n.738+37C>A) | |
16 | g.56870272C= | CA2224349366 | SLC12A3 | c.741+37C= (n.741+37C=) c.738+37C= (n.738+37C=) | |
16 | g.56870272C>G | CA722005344 | SLC12A3 | c.741+37C>G (n.741+37C>G) c.738+37C>G (n.738+37C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870272C>T | CA8069179 | SLC12A3 | c.741+37C>T (n.741+37C>T) c.738+37C>T (n.738+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870273G>A | CA8069180 | SLC12A3 | c.741+38G>A (n.741+38G>A) c.738+38G>A (n.738+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870273G>C | CA622334029 | SLC12A3 | c.741+38G>C (n.741+38G>C) c.738+38G>C (n.738+38G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870273G= | CA2224349367 | SLC12A3 | c.741+38G= (n.741+38G=) c.738+38G= (n.738+38G=) | |
16 | g.56870273G>T | CA2224349368 | SLC12A3 | c.741+38G>T (n.741+38G>T) c.738+38G>T (n.738+38G>T) | dbSNP gnomAD v4 |
16 | g.56870274G>A | CA722005353 | SLC12A3 | c.741+39G>A (n.741+39G>A) c.738+39G>A (n.738+39G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870274G= | CA2224349369 | SLC12A3 | c.741+39G= (n.741+39G=) c.738+39G= (n.738+39G=) | |
16 | g.56870274G>T | CA2633371344 | SLC12A3 | c.741+39G>T (n.741+39G>T) c.738+39G>T (n.738+39G>T) | gnomAD v4 |
16 | g.56870275G>A | CA622334031 | SLC12A3 | c.741+40G>A (n.741+40G>A) c.738+40G>A (n.738+40G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870275G= | CA2224349370 | SLC12A3 | c.741+40G= (n.741+40G=) c.738+40G= (n.738+40G=) | |
16 | g.56870275G>T | CA2633371346 | SLC12A3 | c.741+40G>T (n.741+40G>T) c.738+40G>T (n.738+40G>T) | gnomAD v4 |
16 | g.56870276C>A | CA2633371348 | SLC12A3 | c.741+41C>A (n.741+41C>A) c.738+41C>A (n.738+41C>A) | gnomAD v4 |
16 | g.56870276C= | CA2224349371 | SLC12A3 | c.741+41C= (n.741+41C=) c.738+41C= (n.738+41C=) | |
16 | g.56870276C>T | CA622334034 | SLC12A3 | c.741+41C>T (n.741+41C>T) c.738+41C>T (n.738+41C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870278G>A | CA8069181 | SLC12A3 | c.741+43G>A (n.741+43G>A) c.738+43G>A (n.738+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870278G= | CA2224349372 | SLC12A3 | c.741+43G= (n.741+43G=) c.738+43G= (n.738+43G=) | |
16 | g.56870278G>T | CA2633371351 | SLC12A3 | c.741+43G>T (n.741+43G>T) c.738+43G>T (n.738+43G>T) | gnomAD v4 |
16 | g.56870279C>T | CA2633371353 | SLC12A3 | c.741+44C>T (n.741+44C>T) c.738+44C>T (n.738+44C>T) | gnomAD v4 |
16 | g.56870280C>A | CA977638165 | SLC12A3 | c.741+45C>A (n.741+45C>A) c.738+45C>A (n.738+45C>A) | dbSNP |
16 | g.56870280C= | CA2224349373 | SLC12A3 | c.741+45C= (n.741+45C=) c.738+45C= (n.738+45C=) | |
16 | g.56870281C>A | CA2633371355 | SLC12A3 | c.741+46C>A (n.741+46C>A) c.738+46C>A (n.738+46C>A) | gnomAD v4 |
16 | g.56870281C= | CA2224349374 | SLC12A3 | c.741+46C= (n.741+46C=) c.738+46C= (n.738+46C=) | |
16 | g.56870281C>T | CA622334035 | SLC12A3 | c.741+46C>T (n.741+46C>T) c.738+46C>T (n.738+46C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870283T>C | CA8069182 | SLC12A3 | c.741+48T>C (n.741+48T>C) c.738+48T>C (n.738+48T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870283T= | CA2224349375 | SLC12A3 | c.741+48T= (n.741+48T=) c.738+48T= (n.738+48T=) | |
16 | g.56870284T>C | CA2633371357 | SLC12A3 | c.741+49T>C (n.741+49T>C) c.738+49T>C (n.738+49T>C) | gnomAD v4 |
16 | g.56870285G>A | CA622334038 | SLC12A3 | c.741+50G>A (n.741+50G>A) c.738+50G>A (n.738+50G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870285G= | CA2224349376 | SLC12A3 | c.741+50G= (n.741+50G=) c.738+50G= (n.738+50G=) | |
16 | g.56870285G>T | CA2633371359 | SLC12A3 | c.741+50G>T (n.741+50G>T) c.738+50G>T (n.738+50G>T) | gnomAD v4 |