| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173234737G>A | CA3563802 | NKX2-5 | c.334+13C>T (n.334+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234737G>C | CA2676543025 | NKX2-5 | c.334+13C>G (n.334+13C>G) | gnomAD v4 |
| 5 | g.173234737G= | CA1601616957 | NKX2-5 | c.334+13C= (n.334+13C=) | |
| 5 | g.173234737G>T | CA2676543024 | NKX2-5 | c.334+13C>A (n.334+13C>A) | gnomAD v4 |
| 5 | g.173234738T>C | CA2676543026 | NKX2-5 | c.334+12A>G (n.334+12A>G) | gnomAD v4 |
| 5 | g.173234740T>C | CA2676543027 | NKX2-5 | c.334+10A>G (n.334+10A>G) | gnomAD v4 |
| 5 | g.173234745_173234747del | CA2676543028 | NKX2-5 | c.334+8_334+10del (n.334+8_334+10del) | gnomAD v4 |
| 5 | g.173234741C>A | CA3563803 | NKX2-5 | c.334+9G>T (n.334+9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234741C= | CA1601616958 | NKX2-5 | c.334+9G= (n.334+9G=) | |
| 5 | g.173234741C>T | CA3563804 | NKX2-5 | c.334+9G>A (n.334+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234742C>A | CA2676543029 | NKX2-5 | c.334+8G>T (n.334+8G>T) | gnomAD v4 |
| 5 | g.173234742C>T | CA2676543030 | NKX2-5 | c.334+8G>A (n.334+8G>A) | gnomAD v4 |
| 5 | g.173234743T>C | CA2676543031 | NKX2-5 | c.334+7A>G (n.334+7A>G) | gnomAD v4 |
| 5 | g.173234744C>A | CA2676543032 | NKX2-5 | c.334+6G>T (n.334+6G>T) | gnomAD v4 |
| 5 | g.173234744C= | CA1601616959 | NKX2-5 | c.334+6G= (n.334+6G=) | |
| 5 | g.173234744C>G | CA807697095 | NKX2-5 | c.334+6G>C (n.334+6G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234744C>T | CA1601616960 | NKX2-5 | c.334+6G>A (n.334+6G>A) | dbSNP |
| 5 | g.173234745C>A | CA2676543033 | NKX2-5 | c.334+5G>T (n.334+5G>T) | gnomAD v4 |
| 5 | g.173234745C>T | CA2676543034 | NKX2-5 | c.334+5G>A (n.334+5G>A) | gnomAD v4 |
| 5 | g.173234746T>C | CA2676543035 | NKX2-5 | c.334+4A>G (n.334+4A>G) | gnomAD v4 |
| 5 | g.173234746T>G | CA2578487513 | NKX2-5 | c.334+4A>C (n.334+4A>C) | |
| 5 | g.173234747C>A | CA2676543036 | NKX2-5 | c.334+3G>T (n.334+3G>T) | gnomAD v4 |
| 5 | g.173234747C>T | CA2580074048 | NKX2-5 | c.334+3G>A (n.334+3G>A) | ClinVar gnomAD v4 |
| 5 | g.173234748A>C | CA362163127 | NKX2-5 | c.334+2T>G (n.334+2T>G) | |
| 5 | g.173234748A>G | CA362163128 | NKX2-5 | c.334+2T>C (n.334+2T>C) | |
| 5 | g.173234748A>T | CA362163130 | NKX2-5 | c.334+2T>A (n.334+2T>A) | |
| 5 | g.173234748_173235311delinsACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG | CA1601616961 | NKX2-5 | c.-228_334+2delinsCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAGGT | |
| 5 | g.173234749C>A | CA10581148 | NKX2-5 | c.334+1G>T (n.334+1G>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234749C= | CA1601616962 | NKX2-5 | c.334+1G= (n.334+1G=) | |
| 5 | g.173234749C>G | CA362163134 | NKX2-5 | c.334+1G>C (n.334+1G>C) | |
| 5 | g.173234749C>T | CA362163133 | NKX2-5 | c.334+1G>A (n.334+1G>A) | |
| 5 | g.173234750_173235312del | CA915942752 | NKX2-5 | c.-228_334+1del | ClinVar dbSNP |
| 5 | g.173234750C>A | CA362163135 | NKX2-5 | c.334G>T (p.Glu112Ter) c.334G>T (p.Ala112Ser) c.334G>T (p.Gly112Trp) | gnomAD v4 |
| 5 | g.173234750C>G | CA362163137 | NKX2-5 | c.334G>C (p.Glu112Gln) c.334G>C (p.Ala112Pro) c.334G>C (p.Gly112Arg) | |
| 5 | g.173234750C>T | CA362163139 | NKX2-5 | c.334G>A (p.Glu112Lys) c.334G>A (p.Ala112Thr) c.334G>A (p.Gly112Arg) | |
| 5 | g.173234751T>A | CA362163140 | NKX2-5 | c.333A>T (p.Lys111Asn) | |
| 5 | g.173234751T>C | CA447975114 | NKX2-5 | c.333A>G (p.Lys111=) | gnomAD v4 |
| 5 | g.173234751T>G | CA362163142 | NKX2-5 | c.333A>C (p.Lys111Asn) | gnomAD v4 |
| 5 | g.173234753del | CA2676543037 | NKX2-5 | c.333del (p.Glu112SerfsTer?) c.333del (p.Ala112ProfsTer?) c.333del (p.Ala112HisfsTer?) c.333del (p.Cys113ValfsTer17) | gnomAD v4 |
| 5 | g.173234752T>A | CA362163144 | NKX2-5 | c.332A>T (p.Lys111Ile) | |
| 5 | g.173234752T>C | CA362163146 | NKX2-5 | c.332A>G (p.Lys111Arg) | gnomAD v4 |
| 5 | g.173234752T>G | CA362163148 | NKX2-5 | c.332A>C (p.Lys111Thr) | |
| 5 | g.173234753T>A | CA362163159 | NKX2-5 | c.331A>T (p.Lys111Ter) | |
| 5 | g.173234753T>C | CA362163161 | NKX2-5 | c.331A>G (p.Lys111Glu) | |
| 5 | g.173234753T>G | CA362163174 | NKX2-5 | c.331A>C (p.Lys111Gln) | |
| 5 | g.173234754C>A | CA362163176 | NKX2-5 | c.330G>T (p.Lys110Asn) | gnomAD v4 COSMIC |
| 5 | g.173234754C>G | CA362163177 | NKX2-5 | c.330G>C (p.Lys110Asn) | |
| 5 | g.173234754C>T | CA447975125 | NKX2-5 | c.330G>A (p.Lys110=) | |
| 5 | g.173234755T>A | CA362163179 | NKX2-5 | c.329A>T (p.Lys110Met) | |
| 5 | g.173234755T>C | CA362163180 | NKX2-5 | c.329A>G (p.Lys110Arg) | |
| 5 | g.173234755T>G | CA362163181 | NKX2-5 | c.329A>C (p.Lys110Thr) | |
| 5 | g.173234756T>A | CA362163183 | NKX2-5 | c.328A>T (p.Lys110Ter) | ClinVar |
| 5 | g.173234756T>C | CA362163185 | NKX2-5 | c.328A>G (p.Lys110Glu) | gnomAD v4 |
| 5 | g.173234756T>G | CA362163187 | NKX2-5 | c.328A>C (p.Lys110Gln) | |
| 5 | g.173234757T>A | CA362163188 | NKX2-5 | c.327A>T (p.Glu109Asp) | |
| 5 | g.173234757T>C | CA447975131 | NKX2-5 | c.327A>G (p.Glu109=) | gnomAD v4 |
| 5 | g.173234757T>G | CA362163190 | NKX2-5 | c.327A>C (p.Glu109Asp) | |
| 5 | g.173234758T>A | CA362163192 | NKX2-5 | c.326A>T (p.Glu109Val) | |
| 5 | g.173234758T>C | CA362163193 | NKX2-5 | c.326A>G (p.Glu109Gly) | |
| 5 | g.173234758T>G | CA362163195 | NKX2-5 | c.326A>C (p.Glu109Ala) | gnomAD v4 |
| 5 | g.173234759C>A | CA362163202 | NKX2-5 | c.325G>T (p.Glu109Ter) | gnomAD v4 |
| 5 | g.173234759C= | CA1601616963 | NKX2-5 | c.325G= (p.Glu109=) | |
| 5 | g.173234759C>G | CA362163204 | NKX2-5 | c.325G>C (p.Glu109Gln) | gnomAD v4 |
| 5 | g.173234759C>T | CA362163206 | NKX2-5 | c.325G>A (p.Glu109Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234760G>A | CA3563805 | NKX2-5 | c.324C>T (p.Ala108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234760G>C | CA447975139 | NKX2-5 | c.324C>G (p.Ala108=) | dbSNP |
| 5 | g.173234760G= | CA1601616964 | NKX2-5 | c.324C= (p.Ala108=) | |
| 5 | g.173234760G>T | CA447975141 | NKX2-5 | c.324C>A (p.Ala108=) | |
| 5 | g.173234761G>A | CA362163209 | NKX2-5 | c.323C>T (p.Ala108Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234761G>C | CA362163211 | NKX2-5 | c.323C>G (p.Ala108Gly) | |
| 5 | g.173234761G= | CA1601616965 | NKX2-5 | c.323C= (p.Ala108=) | |
| 5 | g.173234761G>T | CA362163213 | NKX2-5 | c.323C>A (p.Ala108Asp) | gnomAD v4 |
| 5 | g.173234762C>A | CA362163215 | NKX2-5 | c.322G>T (p.Ala108Ser) | gnomAD v4 |
| 5 | g.173234762C= | CA1601616966 | NKX2-5 | c.322G= (p.Ala108=) | |
| 5 | g.173234762C>G | CA362163217 | NKX2-5 | c.322G>C (p.Ala108Pro) | |
| 5 | g.173234762C>T | CA3563806 | NKX2-5 | c.322G>A (p.Ala108Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.173234763T>A | CA362163219 | NKX2-5 | c.321A>T (p.Arg107Ser) | |
| 5 | g.173234763T>C | CA447975149 | NKX2-5 | c.321A>G (p.Arg107=) | dbSNP |
| 5 | g.173234763T>G | CA3563807 | NKX2-5 | c.321A>C (p.Arg107Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234763T= | CA1601616967 | NKX2-5 | c.321A= (p.Arg107=) | |
| 5 | g.173234763_173234770del | CA2697546578 | NKX2-5 | c.314_321del (p.Asp105GlyfsTer?) c.314_321del (p.Asp105GlyfsTer9) c.314_321del (p.Asp105GlyfsTer22) c.314_321del (p.Asp105GlyfsTer7) | ClinVar |
| 5 | g.173234764C>A | CA362163223 | NKX2-5 | c.320G>T (p.Arg107Ile) | gnomAD v4 |
| 5 | g.173234764C>G | CA362163225 | NKX2-5 | c.320G>C (p.Arg107Thr) | |
| 5 | g.173234764C>T | CA362163226 | NKX2-5 | c.320G>A (p.Arg107Lys) | |
| 5 | g.173234765T>A | CA362163228 | NKX2-5 | c.319A>T (p.Arg107Ter) | |
| 5 | g.173234765T>C | CA362163238 | NKX2-5 | c.319A>G (p.Arg107Gly) | |
| 5 | g.173234765T>G | CA447975151 | NKX2-5 | c.319A>C (p.Arg107=) | |
| 5 | g.173234766A= | CA1601616968 | NKX2-5 | c.318T= (p.Pro106=) | |
| 5 | g.173234766A>C | CA447975152 | NKX2-5 | c.318T>G (p.Pro106=) | |
| 5 | g.173234766A>G | CA447975153 | NKX2-5 | c.318T>C (p.Pro106=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234766A>T | CA447975156 | NKX2-5 | c.318T>A (p.Pro106=) | |
| 5 | g.173234767G>A | CA362163243 | NKX2-5 | c.317C>T (p.Pro106Leu) | |
| 5 | g.173234767G>C | CA362163241 | NKX2-5 | c.317C>G (p.Pro106Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234767G= | CA1601616969 | NKX2-5 | c.317C= (p.Pro106=) | |
| 5 | g.173234767G>T | CA362163240 | NKX2-5 | c.317C>A (p.Pro106His) | |
| 5 | g.173234768G>A | CA362163246 | NKX2-5 | c.316C>T (p.Pro106Ser) | dbSNP gnomAD v4 |
| 5 | g.173234768G>C | CA362163245 | NKX2-5 | c.316C>G (p.Pro106Ala) | |
| 5 | g.173234768G= | CA1601616970 | NKX2-5 | c.316C= (p.Pro106=) | |
| 5 | g.173234768G>T | CA362163247 | NKX2-5 | c.316C>A (p.Pro106Thr) | gnomAD v4 |
| 5 | g.173234769G>A | CA447975165 | NKX2-5 | c.315C>T (p.Asp105=) | ClinVar gnomAD v4 |
| 5 | g.173234769G>C | CA362163249 | NKX2-5 | c.315C>G (p.Asp105Glu) | |
| 5 | g.173234769G>T | CA362163250 | NKX2-5 | c.315C>A (p.Asp105Glu) | |
| 5 | g.173234770T>A | CA362163252 | NKX2-5 | c.314A>T (p.Asp105Val) | |
| 5 | g.173234770T>C | CA362163254 | NKX2-5 | c.314A>G (p.Asp105Gly) | |
| 5 | g.173234770T>G | CA362163260 | NKX2-5 | c.314A>C (p.Asp105Ala) | |
| 5 | g.173234771C>A | CA362163261 | NKX2-5 | c.313G>T (p.Asp105Tyr) | gnomAD v4 |
| 5 | g.173234771C>G | CA362163262 | NKX2-5 | c.313G>C (p.Asp105His) | |
| 5 | g.173234771C>T | CA362163263 | NKX2-5 | c.313G>A (p.Asp105Asn) | gnomAD v4 |
| 5 | g.173234772del | CA2695205821 | NKX2-5 | c.313del (p.Asp105ThrfsTer?) c.313del (p.Asp105ThrfsTer25) | |
| 5 | g.173234772C>A | CA362163264 | NKX2-5 | c.312G>T (p.Lys104Asn) | gnomAD v4 |
| 5 | g.173234772C= | CA1601616971 | NKX2-5 | c.312G= (p.Lys104=) | |
| 5 | g.173234772C>G | CA3563808 | NKX2-5 | c.312G>C (p.Lys104Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234772C>T | CA447975177 | NKX2-5 | c.312G>A (p.Lys104=) | |
| 5 | g.173234773T>A | CA362163265 | NKX2-5 | c.311A>T (p.Lys104Met) | |
| 5 | g.173234773T>C | CA362163266 | NKX2-5 | c.311A>G (p.Lys104Arg) | gnomAD v4 |
| 5 | g.173234773T>G | CA362163267 | NKX2-5 | c.311A>C (p.Lys104Thr) | |
| 5 | g.173234774T>A | CA362163270 | NKX2-5 | c.310A>T (p.Lys104Ter) | ClinVar dbSNP |
| 5 | g.173234774T>C | CA362163268 | NKX2-5 | c.310A>G (p.Lys104Glu) | |
| 5 | g.173234774T>G | CA362163269 | NKX2-5 | c.310A>C (p.Lys104Gln) | |
| 5 | g.173234774T= | CA1601616972 | NKX2-5 | c.310A= (p.Lys104=) | |
| 5 | g.173234775G>A | CA3563809 | NKX2-5 | c.309C>T (p.Ala103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234775G>C | CA447975182 | NKX2-5 | c.309C>G (p.Ala103=) | |
| 5 | g.173234775G= | CA1601616973 | NKX2-5 | c.309C= (p.Ala103=) | |
| 5 | g.173234775G>T | CA447975180 | NKX2-5 | c.309C>A (p.Ala103=) | gnomAD v4 |
| 5 | g.173234776G>A | CA362163271 | NKX2-5 | c.308C>T (p.Ala103Val) | gnomAD v4 |
| 5 | g.173234776G>C | CA362163272 | NKX2-5 | c.308C>G (p.Ala103Gly) | |
| 5 | g.173234776G>T | CA362163273 | NKX2-5 | c.308C>A (p.Ala103Asp) | |
| 5 | g.173234777C>A | CA362163274 | NKX2-5 | c.307G>T (p.Ala103Ser) | gnomAD v4 |
| 5 | g.173234777C>G | CA362163275 | NKX2-5 | c.307G>C (p.Ala103Pro) | |
| 5 | g.173234777C>T | CA362163276 | NKX2-5 | c.307G>A (p.Ala103Thr) | gnomAD v4 |
| 5 | g.173234778T>A | CA447975187 | NKX2-5 | c.306A>T (p.Pro102=) | |
| 5 | g.173234778T>C | CA447975189 | NKX2-5 | c.306A>G (p.Pro102=) | gnomAD v4 |
| 5 | g.173234778T>G | CA447975190 | NKX2-5 | c.306A>C (p.Pro102=) | |
| 5 | g.173234778_173234784delinsTGGGTCG | CA1601616974 | NKX2-5 | c.300_306delinsCGACCCA (p.Pro100=) | |
| 5 | g.173234779G>A | CA362163277 | NKX2-5 | c.305C>T (p.Pro102Leu) | |
| 5 | g.173234779G>C | CA362163278 | NKX2-5 | c.305C>G (p.Pro102Arg) | |
| 5 | g.173234779G= | CA1601616975 | NKX2-5 | c.305C= (p.Pro102=) | |
| 5 | g.173234779G>T | CA362163279 | NKX2-5 | c.305C>A (p.Pro102Gln) | dbSNP gnomAD v4 |
| 5 | g.173234781del | CA2676543044 | NKX2-5 | c.305del (p.Pro102GlnfsTer?) c.305del (p.Pro102GlnfsTer28) | gnomAD v4 |
| 5 | g.173234785_173234790del | CA3563810 | NKX2-5 | c.300_305del (p.Asp101_Pro102del) | dbSNP ExAC gnomAD v2 |
| 5 | g.173234780G>A | CA362163282 | NKX2-5 | c.304C>T (p.Pro102Ser) | gnomAD v4 |
| 5 | g.173234780G>C | CA362163281 | NKX2-5 | c.304C>G (p.Pro102Ala) | |
| 5 | g.173234780G>T | CA362163280 | NKX2-5 | c.304C>A (p.Pro102Thr) | gnomAD v4 |
| 5 | g.173234781G>A | CA447975196 | NKX2-5 | c.303C>T (p.Asp101=) | |
| 5 | g.173234781G>C | CA362163283 | NKX2-5 | c.303C>G (p.Asp101Glu) | |
| 5 | g.173234781G>T | CA362163284 | NKX2-5 | c.303C>A (p.Asp101Glu) | gnomAD v4 |
| 5 | g.173234782T>A | CA362163285 | NKX2-5 | c.302A>T (p.Asp101Val) | ClinVar |
| 5 | g.173234782T>C | CA362163286 | NKX2-5 | c.302A>G (p.Asp101Gly) | ClinVar gnomAD v4 COSMIC |
| 5 | g.173234782T>G | CA362163287 | NKX2-5 | c.302A>C (p.Asp101Ala) | |
| 5 | g.173234783C>A | CA362163288 | NKX2-5 | c.301G>T (p.Asp101Tyr) | dbSNP gnomAD v4 |
| 5 | g.173234783C= | CA1601616976 | NKX2-5 | c.301G= (p.Asp101=) | |
| 5 | g.173234783C>G | CA362163289 | NKX2-5 | c.301G>C (p.Asp101His) | |
| 5 | g.173234783C>T | CA362163290 | NKX2-5 | c.301G>A (p.Asp101Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234784G>A | CA447975198 | NKX2-5 | c.300C>T (p.Pro100=) | gnomAD v4 |
| 5 | g.173234784G>C | CA447975197 | NKX2-5 | c.300C>G (p.Pro100=) | ClinVar dbSNP |
| 5 | g.173234784G= | CA1601616977 | NKX2-5 | c.300C= (p.Pro100=) | |
| 5 | g.173234784G>T | CA3563811 | NKX2-5 | c.300C>A (p.Pro100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234787del | CA2676543070 | NKX2-5 | c.300del (p.Asp101ThrfsTer?) c.300del (p.Asp101ThrfsTer29) | gnomAD v4 |
| 5 | g.173234785G>A | CA362163291 | NKX2-5 | c.299C>T (p.Pro100Leu) | ClinVar gnomAD v4 |
| 5 | g.173234785G>C | CA362163292 | NKX2-5 | c.299C>G (p.Pro100Arg) | |
| 5 | g.173234785G>T | CA362163293 | NKX2-5 | c.299C>A (p.Pro100His) | gnomAD v4 |
| 5 | g.173234786G>A | CA362163294 | NKX2-5 | c.298C>T (p.Pro100Ser) | gnomAD v4 |
| 5 | g.173234786G>C | CA3563812 | NKX2-5 | c.298C>G (p.Pro100Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234786G= | CA1601616978 | NKX2-5 | c.298C= (p.Pro100=) | |
| 5 | g.173234786G>T | CA132260336 | NKX2-5 | c.298C>A (p.Pro100Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234787G>A | CA447975205 | NKX2-5 | c.297C>T (p.Asp99=) | gnomAD v4 |
| 5 | g.173234787G>C | CA362163295 | NKX2-5 | c.297C>G (p.Asp99Glu) | |
| 5 | g.173234787G>T | CA362163296 | NKX2-5 | c.297C>A (p.Asp99Glu) | gnomAD v4 |
| 5 | g.173234788T>A | CA362163297 | NKX2-5 | c.296A>T (p.Asp99Val) | |
| 5 | g.173234788T>C | CA362163298 | NKX2-5 | c.296A>G (p.Asp99Gly) | |
| 5 | g.173234788T>G | CA362163299 | NKX2-5 | c.296A>C (p.Asp99Ala) | |
| 5 | g.173234789C>A | CA362163300 | NKX2-5 | c.295G>T (p.Asp99Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234789C= | CA1601616979 | NKX2-5 | c.295G= (p.Asp99=) | |
| 5 | g.173234789C>G | CA362163301 | NKX2-5 | c.295G>C (p.Asp99His) | gnomAD v4 |
| 5 | g.173234789C>T | CA362163302 | NKX2-5 | c.295G>A (p.Asp99Asn) | gnomAD v4 COSMIC |
| 5 | g.173234790G>A | CA447975210 | NKX2-5 | c.294C>T (p.Ser98=) | gnomAD v4 |
| 5 | g.173234790G>C | CA362163303 | NKX2-5 | c.294C>G (p.Ser98Arg) | |
| 5 | g.173234790G= | CA1601616980 | NKX2-5 | c.294C= (p.Ser98=) | |
| 5 | g.173234790G>T | CA362163304 | NKX2-5 | c.294C>A (p.Ser98Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234791C>A | CA362163305 | NKX2-5 | c.293G>T (p.Ser98Ile) | |
| 5 | g.173234791C>G | CA362163306 | NKX2-5 | c.293G>C (p.Ser98Thr) | ClinVar |
| 5 | g.173234791C>T | CA362163307 | NKX2-5 | c.293G>A (p.Ser98Asn) | |
| 5 | g.173234792T>A | CA362163309 | NKX2-5 | c.292A>T (p.Ser98Cys) | COSMIC |
| 5 | g.173234792T>C | CA362163310 | NKX2-5 | c.292A>G (p.Ser98Gly) | gnomAD v4 |
| 5 | g.173234792T>G | CA362163308 | NKX2-5 | c.292A>C (p.Ser98Arg) | |
| 5 | g.173234793G>A | CA447975217 | NKX2-5 | c.291C>T (p.Tyr97=) | gnomAD v4 |
| 5 | g.173234793G>C | CA362163311 | NKX2-5 | c.291C>G (p.Tyr97Ter) | |
| 5 | g.173234793G>T | CA362163312 | NKX2-5 | c.291C>A (p.Tyr97Ter) | ClinVar |
| 5 | g.173234794T>A | CA362163313 | NKX2-5 | c.290A>T (p.Tyr97Phe) | |
| 5 | g.173234794T>C | CA362163314 | NKX2-5 | c.290A>G (p.Tyr97Cys) | gnomAD v4 |
| 5 | g.173234794T>G | CA362163315 | NKX2-5 | c.290A>C (p.Tyr97Ser) | gnomAD v4 |
| 5 | g.173234795A>C | CA362163316 | NKX2-5 | c.289T>G (p.Tyr97Asp) | gnomAD v4 |
| 5 | g.173234795A>G | CA362163317 | NKX2-5 | c.289T>C (p.Tyr97His) | |
| 5 | g.173234795A>T | CA362163318 | NKX2-5 | c.289T>A (p.Tyr97Asn) | gnomAD v4 |
| 5 | g.173234796G>A | CA447975221 | NKX2-5 | c.288C>T (p.Ala96=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234796G>C | CA447975222 | NKX2-5 | c.288C>G (p.Ala96=) | |
| 5 | g.173234796G= | CA1601616981 | NKX2-5 | c.288C= (p.Ala96=) | |
| 5 | g.173234796G>T | CA447975223 | NKX2-5 | c.288C>A (p.Ala96=) | |
| 5 | g.173234797G>A | CA3563813 | NKX2-5 | c.287C>T (p.Ala96Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234797G>C | CA362163319 | NKX2-5 | c.287C>G (p.Ala96Gly) | |
| 5 | g.173234797G= | CA1601616982 | NKX2-5 | c.287C= (p.Ala96=) | |
| 5 | g.173234797G>T | CA362163320 | NKX2-5 | c.287C>A (p.Ala96Asp) | |
| 5 | g.173234798C>A | CA362163321 | NKX2-5 | c.286G>T (p.Ala96Ser) | gnomAD v4 |
| 5 | g.173234798C>G | CA362163322 | NKX2-5 | c.286G>C (p.Ala96Pro) | |
| 5 | g.173234798C>T | CA362163323 | NKX2-5 | c.286G>A (p.Ala96Thr) | ClinVar gnomAD v4 |
| 5 | g.173234799A>C | CA447975229 | NKX2-5 | c.285T>G (p.Arg95=) | |
| 5 | g.173234799A>G | CA447975230 | NKX2-5 | c.285T>C (p.Arg95=) | |
| 5 | g.173234799A>T | CA447975231 | NKX2-5 | c.285T>A (p.Arg95=) | |
| 5 | g.173234800C>A | CA3563814 | NKX2-5 | c.284G>T (p.Arg95Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234800C= | CA1601616983 | NKX2-5 | c.284G= (p.Arg95=) | |
| 5 | g.173234800C>G | CA362163325 | NKX2-5 | c.284G>C (p.Arg95Pro) | |
| 5 | g.173234800C>T | CA362163324 | NKX2-5 | c.284G>A (p.Arg95His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234801G>A | CA362163326 | NKX2-5 | c.283C>T (p.Arg95Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.173234801G>C | CA362163327 | NKX2-5 | c.283C>G (p.Arg95Gly) | ClinVar gnomAD v4 |
| 5 | g.173234801G= | CA1601616984 | NKX2-5 | c.283C= (p.Arg95=) | |
| 5 | g.173234801G>T | CA362163328 | NKX2-5 | c.283C>A (p.Arg95Ser) | gnomAD v4 |
| 5 | g.173234802T>A | CA447975233 | NKX2-5 | c.282A>T (p.Pro94=) | |
| 5 | g.173234802T>C | CA447975234 | NKX2-5 | c.282A>G (p.Pro94=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234802T>G | CA447975235 | NKX2-5 | c.282A>C (p.Pro94=) | |
| 5 | g.173234802T= | CA1601616985 | NKX2-5 | c.282A= (p.Pro94=) | |
| 5 | g.173234803G>A | CA362163329 | NKX2-5 | c.281C>T (p.Pro94Leu) | gnomAD v4 |
| 5 | g.173234803G>C | CA362163330 | NKX2-5 | c.281C>G (p.Pro94Arg) | |
| 5 | g.173234803G>T | CA362163331 | NKX2-5 | c.281C>A (p.Pro94Gln) | gnomAD v4 |
| 5 | g.173234804del | CA2499217778 | NKX2-5 | c.281del (p.Pro94HisfsTer?) | ClinVar dbSNP |
| 5 | g.173234804G>A | CA132260347 | NKX2-5 | c.280C>T (p.Pro94Ser) | ClinVar dbSNP |
| 5 | g.173234804G>C | CA362163332 | NKX2-5 | c.280C>G (p.Pro94Ala) | |
| 5 | g.173234804G= | CA1601616986 | NKX2-5 | c.280C= (p.Pro94=) | |
| 5 | g.173234804G>T | CA362163333 | NKX2-5 | c.280C>A (p.Pro94Thr) | |
| 5 | g.173234805A>C | CA362163334 | NKX2-5 | c.279T>G (p.Tyr93Ter) | |
| 5 | g.173234805A>G | CA447975239 | NKX2-5 | c.279T>C (p.Tyr93=) | |
| 5 | g.173234805A>T | CA362163335 | NKX2-5 | c.279T>A (p.Tyr93Ter) | ClinVar |
| 5 | g.173234806T>A | CA362163336 | NKX2-5 | c.278A>T (p.Tyr93Phe) | |
| 5 | g.173234806T>C | CA362163337 | NKX2-5 | c.278A>G (p.Tyr93Cys) | gnomAD v4 |
| 5 | g.173234806T>G | CA362163338 | NKX2-5 | c.278A>C (p.Tyr93Ser) | |
| 5 | g.173234807A>C | CA362163340 | NKX2-5 | c.277T>G (p.Tyr93Asp) | |
| 5 | g.173234807A>G | CA362163341 | NKX2-5 | c.277T>C (p.Tyr93His) | gnomAD v4 |
| 5 | g.173234807A>T | CA362163339 | NKX2-5 | c.277T>A (p.Tyr93Asn) | |
| 5 | g.173234808G>A | CA447975241 | NKX2-5 | c.276C>T (p.Phe92=) | |
| 5 | g.173234808G>C | CA362163342 | NKX2-5 | c.276C>G (p.Phe92Leu) | |
| 5 | g.173234808G>T | CA362163343 | NKX2-5 | c.276C>A (p.Phe92Leu) | |
| 5 | g.173234809A>C | CA362163344 | NKX2-5 | c.275T>G (p.Phe92Cys) | |
| 5 | g.173234809A>G | CA362163345 | NKX2-5 | c.275T>C (p.Phe92Ser) | gnomAD v4 |
| 5 | g.173234809A>T | CA362163346 | NKX2-5 | c.275T>A (p.Phe92Tyr) | |
| 5 | g.173234810del | CA2676543120 | NKX2-5 | c.275del (p.Phe92SerfsTer?) | gnomAD v4 |
| 5 | g.173234810A>C | CA362163347 | NKX2-5 | c.274T>G (p.Phe92Val) | ClinVar gnomAD v4 |
| 5 | g.173234810A>G | CA362163348 | NKX2-5 | c.274T>C (p.Phe92Leu) | gnomAD v4 |
| 5 | g.173234810A>T | CA362163349 | NKX2-5 | c.274T>A (p.Phe92Ile) | |
| 5 | g.173234811G>A | CA132260350 | NKX2-5 | c.273C>T (p.Ala91=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234811G>C | CA447975243 | NKX2-5 | c.273C>G (p.Ala91=) | |
| 5 | g.173234811G= | CA1601616987 | NKX2-5 | c.273C= (p.Ala91=) | |
| 5 | g.173234811G>T | CA447975244 | NKX2-5 | c.273C>A (p.Ala91=) | gnomAD v4 |
| 5 | g.173234812G>A | CA362163350 | NKX2-5 | c.272C>T (p.Ala91Val) | |
| 5 | g.173234812G>C | CA362163351 | NKX2-5 | c.272C>G (p.Ala91Gly) | |
| 5 | g.173234812G>T | CA362163352 | NKX2-5 | c.272C>A (p.Ala91Asp) | |
| 5 | g.173234813C>A | CA362163355 | NKX2-5 | c.271G>T (p.Ala91Ser) | gnomAD v4 |
| 5 | g.173234813C= | CA1601616988 | NKX2-5 | c.271G= (p.Ala91=) | |
| 5 | g.173234813C>G | CA362163354 | NKX2-5 | c.271G>C (p.Ala91Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234813C>T | CA362163353 | NKX2-5 | c.271G>A (p.Ala91Thr) | gnomAD v4 |
| 5 | g.173234814G>A | CA447975248 | NKX2-5 | c.270C>T (p.Pro90=) | ClinVar gnomAD v4 |
| 5 | g.173234814G>C | CA447975249 | NKX2-5 | c.270C>G (p.Pro90=) | gnomAD v4 |
| 5 | g.173234814G>T | CA447975250 | NKX2-5 | c.270C>A (p.Pro90=) | gnomAD v4 |
| 5 | g.173234818dup | CA2573139446 | NKX2-5 | c.270dup (p.Ala91ArgfsTer17) | ClinVar dbSNP |
| 5 | g.173234818del | CA2499217779 | NKX2-5 | c.270del (p.Ala91ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234815G>A | CA362163356 | NKX2-5 | c.269C>T (p.Pro90Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234815G>C | CA362163357 | NKX2-5 | c.269C>G (p.Pro90Arg) | |
| 5 | g.173234815G= | CA1601616989 | NKX2-5 | c.269C= (p.Pro90=) | |
| 5 | g.173234815G>T | CA362163358 | NKX2-5 | c.269C>A (p.Pro90His) | |
| 5 | g.173234816G>A | CA362163359 | NKX2-5 | c.268C>T (p.Pro90Ser) | |
| 5 | g.173234816G>C | CA362163360 | NKX2-5 | c.268C>G (p.Pro90Ala) | |
| 5 | g.173234816G= | CA1601616990 | NKX2-5 | c.268C= (p.Pro90=) | |
| 5 | g.173234816G>T | CA362163361 | NKX2-5 | c.268C>A (p.Pro90Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234817G>A | CA447975253 | NKX2-5 | c.267C>T (p.Ala89=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234817G>C | CA447975254 | NKX2-5 | c.267C>G (p.Ala89=) | |
| 5 | g.173234817G= | CA1601616991 | NKX2-5 | c.267C= (p.Ala89=) | |
| 5 | g.173234817G>T | CA447975255 | NKX2-5 | c.267C>A (p.Ala89=) | |
| 5 | g.173234818G>A | CA362163362 | NKX2-5 | c.266C>T (p.Ala89Val) | gnomAD v4 |
| 5 | g.173234818G>C | CA362163363 | NKX2-5 | c.266C>G (p.Ala89Gly) | |
| 5 | g.173234818G>T | CA362163364 | NKX2-5 | c.266C>A (p.Ala89Asp) | ClinVar dbSNP |
| 5 | g.173234819C>A | CA362163365 | NKX2-5 | c.265G>T (p.Ala89Ser) | gnomAD v4 |
| 5 | g.173234819C= | CA1601616992 | NKX2-5 | c.265G= (p.Ala89=) | |
| 5 | g.173234819C>G | CA362163366 | NKX2-5 | c.265G>C (p.Ala89Pro) | ClinVar dbSNP |
| 5 | g.173234819C>T | CA362163367 | NKX2-5 | c.265G>A (p.Ala89Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234820G>A | CA447975260 | NKX2-5 | c.264C>T (p.Ala88=) | gnomAD v4 |
| 5 | g.173234820G>C | CA447975261 | NKX2-5 | c.264C>G (p.Ala88=) | |
| 5 | g.173234820G>T | CA447975262 | NKX2-5 | c.264C>A (p.Ala88=) | gnomAD v4 |
| 5 | g.173234821G>A | CA362163368 | NKX2-5 | c.263C>T (p.Ala88Val) | gnomAD v4 |
| 5 | g.173234821G>C | CA362163370 | NKX2-5 | c.263C>G (p.Ala88Gly) | |
| 5 | g.173234821G>T | CA362163369 | NKX2-5 | c.263C>A (p.Ala88Asp) | gnomAD v4 |
| 5 | g.173234821_173234822delinsGC | CA1601616993 | NKX2-5 | c.262_263delinsGC (p.Ala88=) | |
| 5 | g.173234822del | CA212912 | NKX2-5 | c.262del (p.Ala88ProfsTer?) | ClinVar dbSNP |
| 5 | g.173234822C>A | CA362163371 | NKX2-5 | c.262G>T (p.Ala88Ser) | gnomAD v4 |
| 5 | g.173234822C= | CA1601616994 | NKX2-5 | c.262G= (p.Ala88=) | |
| 5 | g.173234822C>G | CA362163372 | NKX2-5 | c.262G>C (p.Ala88Pro) | gnomAD v4 |
| 5 | g.173234822C>T | CA362163373 | NKX2-5 | c.262G>A (p.Ala88Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234823G>A | CA132260352 | NKX2-5 | c.261C>T (p.Pro87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234823G>C | CA447975265 | NKX2-5 | c.261C>G (p.Pro87=) | |
| 5 | g.173234823G= | CA1601616995 | NKX2-5 | c.261C= (p.Pro87=) | |
| 5 | g.173234823G>T | CA447975267 | NKX2-5 | c.261C>A (p.Pro87=) | |
| 5 | g.173234825del | CA2499217780 | NKX2-5 | c.261del (p.Ala88ProfsTer?) | ClinVar dbSNP |
| 5 | g.173234824G>A | CA362163374 | NKX2-5 | c.260C>T (p.Pro87Leu) | gnomAD v4 |
| 5 | g.173234824G>C | CA362163375 | NKX2-5 | c.260C>G (p.Pro87Arg) | |
| 5 | g.173234824G>T | CA362163376 | NKX2-5 | c.260C>A (p.Pro87His) | gnomAD v4 |
| 5 | g.173234825G>A | CA362163377 | NKX2-5 | c.259C>T (p.Pro87Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234825G>C | CA362163378 | NKX2-5 | c.259C>G (p.Pro87Ala) | |
| 5 | g.173234825G= | CA1601616996 | NKX2-5 | c.259C= (p.Pro87=) | |
| 5 | g.173234825G>T | CA362163379 | NKX2-5 | c.259C>A (p.Pro87Thr) | |
| 5 | g.173234826A>C | CA362163380 | NKX2-5 | c.258T>G (p.Phe86Leu) | |
| 5 | g.173234826A>G | CA447975270 | NKX2-5 | c.258T>C (p.Phe86=) | |
| 5 | g.173234826A>T | CA362163381 | NKX2-5 | c.258T>A (p.Phe86Leu) | |
| 5 | g.173234828del | CA2676543122 | NKX2-5 | c.258del (p.Ala88ProfsTer?) | gnomAD v4 |
| 5 | g.173234827A= | CA1601616997 | NKX2-5 | c.257T= (p.Phe86=) | |
| 5 | g.173234827A>C | CA362163382 | NKX2-5 | c.257T>G (p.Phe86Cys) | |
| 5 | g.173234827A>G | CA3563815 | NKX2-5 | c.257T>C (p.Phe86Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234827A>T | CA362163383 | NKX2-5 | c.257T>A (p.Phe86Tyr) | |
| 5 | g.173234828A>C | CA362163386 | NKX2-5 | c.256T>G (p.Phe86Val) | |
| 5 | g.173234828A>G | CA362163384 | NKX2-5 | c.256T>C (p.Phe86Leu) | gnomAD v4 |
| 5 | g.173234828A>T | CA362163385 | NKX2-5 | c.256T>A (p.Phe86Ile) | gnomAD v4 |
| 5 | g.173234828_173234829del | CA2695205822 | NKX2-5 | c.255_256del (p.Phe86SerfsTer21) | |
| 5 | g.173234830_173234833dup | CA2573139447 | NKX2-5 | c.253_256dup (p.Phe86CysfsTer23) | ClinVar dbSNP |
| 5 | g.173234829G>A | CA447975275 | NKX2-5 | c.255C>T (p.Ala85=) | dbSNP |
| 5 | g.173234829G>C | CA447975276 | NKX2-5 | c.255C>G (p.Ala85=) | |
| 5 | g.173234829G= | CA1601616998 | NKX2-5 | c.255C= (p.Ala85=) | |
| 5 | g.173234829G>T | CA447975277 | NKX2-5 | c.255C>A (p.Ala85=) | COSMIC |
| 5 | g.173234830G>A | CA362163387 | NKX2-5 | c.254C>T (p.Ala85Val) | gnomAD v4 |
| 5 | g.173234830G>C | CA362163388 | NKX2-5 | c.254C>G (p.Ala85Gly) | |
| 5 | g.173234830G>T | CA362163389 | NKX2-5 | c.254C>A (p.Ala85Asp) | gnomAD v4 |
| 5 | g.173234831C>A | CA362163390 | NKX2-5 | c.253G>T (p.Ala85Ser) | gnomAD v4 |
| 5 | g.173234831C>G | CA362163391 | NKX2-5 | c.253G>C (p.Ala85Pro) | |
| 5 | g.173234831C>T | CA362163392 | NKX2-5 | c.253G>A (p.Ala85Thr) | gnomAD v4 |
| 5 | g.173234832A= | CA1601616999 | NKX2-5 | c.252T= (p.Ser84=) | |
| 5 | g.173234832A>C | CA447975280 | NKX2-5 | c.252T>G (p.Ser84=) | |
| 5 | g.173234832A>G | CA3563816 | NKX2-5 | c.252T>C (p.Ser84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234832A>T | CA447975281 | NKX2-5 | c.252T>A (p.Ser84=) | |
| 5 | g.173234833G>A | CA362163393 | NKX2-5 | c.251C>T (p.Ser84Phe) | gnomAD v4 |
| 5 | g.173234833G>C | CA3563817 | NKX2-5 | c.251C>G (p.Ser84Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234833G= | CA1601617000 | NKX2-5 | c.251C= (p.Ser84=) | |
| 5 | g.173234833G>T | CA362163394 | NKX2-5 | c.251C>A (p.Ser84Tyr) | |
| 5 | g.173234834A>C | CA362163397 | NKX2-5 | c.250T>G (p.Ser84Ala) | |
| 5 | g.173234834A>G | CA362163396 | NKX2-5 | c.250T>C (p.Ser84Pro) | |
| 5 | g.173234834A>T | CA362163395 | NKX2-5 | c.250T>A (p.Ser84Thr) | |
| 5 | g.173234835C>A | CA447975285 | NKX2-5 | c.249G>T (p.Ala83=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234835C= | CA1601617001 | NKX2-5 | c.249G= (p.Ala83=) | |
| 5 | g.173234835C>G | CA447975286 | NKX2-5 | c.249G>C (p.Ala83=) | |
| 5 | g.173234835C>T | CA447975287 | NKX2-5 | c.249G>A (p.Ala83=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234836G>A | CA362163398 | NKX2-5 | c.248C>T (p.Ala83Val) | ClinVar gnomAD v4 COSMIC |
| 5 | g.173234836G>C | CA362163399 | NKX2-5 | c.248C>G (p.Ala83Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234836G= | CA1601617002 | NKX2-5 | c.248C= (p.Ala83=) | |
| 5 | g.173234836G>T | CA362163400 | NKX2-5 | c.248C>A (p.Ala83Glu) | gnomAD v4 |
| 5 | g.173234837C>A | CA362163401 | NKX2-5 | c.247G>T (p.Ala83Ser) | gnomAD v4 |
| 5 | g.173234837C= | CA1601617003 | NKX2-5 | c.247G= (p.Ala83=) | |
| 5 | g.173234837C>G | CA362163402 | NKX2-5 | c.247G>C (p.Ala83Pro) | |
| 5 | g.173234837C>T | CA3563818 | NKX2-5 | c.247G>A (p.Ala83Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |