| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173234748_173235311delinsACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG | CA1601616961 | NKX2-5 | c.-228_334+2delinsCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAGGT | |
| 5 | g.173234750_173235312del | CA915942752 | NKX2-5 | c.-228_334+1del | ClinVar dbSNP |
| 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 |
| 5 | g.173234838A= | CA1601617004 | NKX2-5 | c.246T= (p.Cys82=) | |
| 5 | g.173234838A>C | CA362163403 | NKX2-5 | c.246T>G (p.Cys82Trp) | |
| 5 | g.173234838A>G | CA447975295 | NKX2-5 | c.246T>C (p.Cys82=) | ClinVar dbSNP |
| 5 | g.173234838A>T | CA362163404 | NKX2-5 | c.246T>A (p.Cys82Ter) | |
| 5 | g.173234838dup | CA1139659257 | NKX2-5 | c.246dup (p.Ala83CysfsTer25) | ClinVar dbSNP |
| 5 | g.173234839C>A | CA362163405 | NKX2-5 | c.245G>T (p.Cys82Phe) | |
| 5 | g.173234839C= | CA1601617005 | NKX2-5 | c.245G= (p.Cys82=) | |
| 5 | g.173234839C>G | CA362163406 | NKX2-5 | c.245G>C (p.Cys82Ser) | gnomAD v4 |
| 5 | g.173234839C>T | CA362163407 | NKX2-5 | c.245G>A (p.Cys82Tyr) | ClinVar dbSNP |
| 5 | g.173234840A= | CA1601617006 | NKX2-5 | c.244T= (p.Cys82=) | |
| 5 | g.173234840A>C | CA362163408 | NKX2-5 | c.244T>G (p.Cys82Gly) | |
| 5 | g.173234840A>G | CA362163409 | NKX2-5 | c.244T>C (p.Cys82Arg) | |
| 5 | g.173234840A>T | CA3563819 | NKX2-5 | c.244T>A (p.Cys82Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234841C>A | CA362163410 | NKX2-5 | c.243G>T (p.Lys81Asn) | gnomAD v4 |
| 5 | g.173234841C= | CA1601617007 | NKX2-5 | c.243G= (p.Lys81=) | |
| 5 | g.173234841C>G | CA362163411 | NKX2-5 | c.243G>C (p.Lys81Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234841C>T | CA447975296 | NKX2-5 | c.243G>A (p.Lys81=) | |
| 5 | g.173234842T>A | CA362163412 | NKX2-5 | c.242A>T (p.Lys81Met) | |
| 5 | g.173234842T>C | CA362163413 | NKX2-5 | c.242A>G (p.Lys81Arg) | |
| 5 | g.173234842T>G | CA362163414 | NKX2-5 | c.242A>C (p.Lys81Thr) | |
| 5 | g.173234843del | CA2695205823 | NKX2-5 | c.242del (p.Lys81SerfsTer?) | |
| 5 | g.173234843T>A | CA362163415 | NKX2-5 | c.241A>T (p.Lys81Ter) | |
| 5 | g.173234843T>C | CA132260367 | NKX2-5 | c.241A>G (p.Lys81Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234843T>G | CA362163416 | NKX2-5 | c.241A>C (p.Lys81Gln) | |
| 5 | g.173234843T= | CA1601617008 | NKX2-5 | c.241A= (p.Lys81=) | |
| 5 | g.173234844G>A | CA447975299 | NKX2-5 | c.240C>T (p.Ala80=) | dbSNP gnomAD v4 |
| 5 | g.173234844G>C | CA447975300 | NKX2-5 | c.240C>G (p.Ala80=) | gnomAD v4 |
| 5 | g.173234844G= | CA1601617009 | NKX2-5 | c.240C= (p.Ala80=) | |
| 5 | g.173234844G>T | CA447975301 | NKX2-5 | c.240C>A (p.Ala80=) | |
| 5 | g.173234845G>A | CA362163417 | NKX2-5 | c.239C>T (p.Ala80Val) | dbSNP |
| 5 | g.173234845G>C | CA362163418 | NKX2-5 | c.239C>G (p.Ala80Gly) | |
| 5 | g.173234845G>T | CA362163419 | NKX2-5 | c.239C>A (p.Ala80Asp) | |
| 5 | g.173234846C>A | CA362163420 | NKX2-5 | c.238G>T (p.Ala80Ser) | ClinVar gnomAD v4 |
| 5 | g.173234846C= | CA1601617010 | NKX2-5 | c.238G= (p.Ala80=) | |
| 5 | g.173234846C>G | CA362163421 | NKX2-5 | c.238G>C (p.Ala80Pro) | |
| 5 | g.173234846C>T | CA362163422 | NKX2-5 | c.238G>A (p.Ala80Thr) | dbSNP gnomAD v4 |
| 5 | g.173234847C>A | CA3563820 | NKX2-5 | c.237G>T (p.Pro79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234847C= | CA1601617011 | NKX2-5 | c.237G= (p.Pro79=) | |
| 5 | g.173234847C>G | CA214177 | NKX2-5 | c.237G>C (p.Pro79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234847C>T | CA214175 | NKX2-5 | c.237G>A (p.Pro79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234848G>A | CA362163423 | NKX2-5 | c.236C>T (p.Pro79Leu) | gnomAD v4 |
| 5 | g.173234848G>C | CA3563821 | NKX2-5 | c.236C>G (p.Pro79Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234848G= | CA1601617012 | NKX2-5 | c.236C= (p.Pro79=) | |
| 5 | g.173234848G>T | CA362163424 | NKX2-5 | c.236C>A (p.Pro79Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234849G>A | CA362163425 | NKX2-5 | c.235C>T (p.Pro79Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234849G>C | CA362163426 | NKX2-5 | c.235C>G (p.Pro79Ala) | |
| 5 | g.173234849G= | CA1601617013 | NKX2-5 | c.235C= (p.Pro79=) | |
| 5 | g.173234849G>T | CA362163427 | NKX2-5 | c.235C>A (p.Pro79Thr) | |
| 5 | g.173234849_173234850insA | CA3563822 | NKX2-5 | c.234_235insT (p.Pro79SerfsTer29) | dbSNP ExAC |
| 5 | g.173234850T>A | CA447975309 | NKX2-5 | c.234A>T (p.Ser78=) | ClinVar dbSNP |
| 5 | g.173234850T>C | CA447975310 | NKX2-5 | c.234A>G (p.Ser78=) | |
| 5 | g.173234850T>G | CA447975311 | NKX2-5 | c.234A>C (p.Ser78=) | |
| 5 | g.173234851G>A | CA362163428 | NKX2-5 | c.233C>T (p.Ser78Leu) | dbSNP |
| 5 | g.173234851G>C | CA362163429 | NKX2-5 | c.233C>G (p.Ser78Ter) | |
| 5 | g.173234851G= | CA1601617014 | NKX2-5 | c.233C= (p.Ser78=) | |
| 5 | g.173234851G>T | CA362163430 | NKX2-5 | c.233C>A (p.Ser78Ter) | |
| 5 | g.173234853_173234854insCAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAA | CA3563823 | NKX2-5 | c.233_234insCTTAATTTTGAGATAAGACCGTCCCTAGCAGTGAGGCCTCGGCCTCTGTTC (p.Ser79LeufsTer5) | ExAC |
| 5 | g.173234852A= | CA1601617015 | NKX2-5 | c.232T= (p.Ser78=) | |
| 5 | g.173234852A>C | CA362163431 | NKX2-5 | c.232T>G (p.Ser78Ala) | |
| 5 | g.173234852A>G | CA3563824 | NKX2-5 | c.232T>C (p.Ser78Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234852A>T | CA362163432 | NKX2-5 | c.232T>A (p.Ser78Thr) | |
| 5 | g.173234853A>C | CA447975315 | NKX2-5 | c.231T>G (p.Pro77=) | |
| 5 | g.173234853A>G | CA447975318 | NKX2-5 | c.231T>C (p.Pro77=) | gnomAD v4 |
| 5 | g.173234853A>T | CA447975316 | NKX2-5 | c.231T>A (p.Pro77=) | |
| 5 | g.173234854G>A | CA362163433 | NKX2-5 | c.230C>T (p.Pro77Leu) | gnomAD v4 |
| 5 | g.173234854G>C | CA362163434 | NKX2-5 | c.230C>G (p.Pro77Arg) | |
| 5 | g.173234854G>T | CA362163435 | NKX2-5 | c.230C>A (p.Pro77His) | |
| 5 | g.173234855del | CA2573139448 | NKX2-5 | c.230del (p.Pro77LeufsTer?) | ClinVar dbSNP |
| 5 | g.173234854_173234856delinsGGC | CA1601617016 | NKX2-5 | c.228_230delinsGCC (p.Ala76=) | |
| 5 | g.173234855G>A | CA3563825 | NKX2-5 | c.229C>T (p.Pro77Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234855G>C | CA362163437 | NKX2-5 | c.229C>G (p.Pro77Ala) | |
| 5 | g.173234855G= | CA1601617017 | NKX2-5 | c.229C= (p.Pro77=) | |
| 5 | g.173234855G>T | CA362163436 | NKX2-5 | c.229C>A (p.Pro77Thr) | |
| 5 | g.173234860_173234861del | CA212911 | NKX2-5 | c.228_229del (p.Pro77PhefsTer?) | ClinVar dbSNP |
| 5 | g.173234856C>A | CA447975321 | NKX2-5 | c.228G>T (p.Ala76=) | gnomAD v4 |
| 5 | g.173234856C>G | CA447975322 | NKX2-5 | c.228G>C (p.Ala76=) | |
| 5 | g.173234856C>T | CA447975323 | NKX2-5 | c.228G>A (p.Ala76=) | gnomAD v4 |
| 5 | g.173234857G>A | CA362163438 | NKX2-5 | c.227C>T (p.Ala76Val) | gnomAD v4 |
| 5 | g.173234857G>C | CA362163439 | NKX2-5 | c.227C>G (p.Ala76Gly) | dbSNP |
| 5 | g.173234857G= | CA1601617018 | NKX2-5 | c.227C= (p.Ala76=) | |
| 5 | g.173234857G>T | CA362163440 | NKX2-5 | c.227C>A (p.Ala76Glu) | ClinVar |
| 5 | g.173234858C>A | CA362163441 | NKX2-5 | c.226G>T (p.Ala76Ser) | gnomAD v4 |
| 5 | g.173234858C>G | CA362163442 | NKX2-5 | c.226G>C (p.Ala76Pro) | gnomAD v4 |
| 5 | g.173234858C>T | CA362163443 | NKX2-5 | c.226G>A (p.Ala76Thr) | gnomAD v4 |
| 5 | g.173234859G>A | CA3563826 | NKX2-5 | c.225C>T (p.Arg75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234859G>C | CA447975325 | NKX2-5 | c.225C>G (p.Arg75=) | |
| 5 | g.173234859G= | CA1601617019 | NKX2-5 | c.225C= (p.Arg75=) | |
| 5 | g.173234859G>T | CA447975326 | NKX2-5 | c.225C>A (p.Arg75=) | |
| 5 | g.173234860C>A | CA362163444 | NKX2-5 | c.224G>T (p.Arg75Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234860C= | CA1601617020 | NKX2-5 | c.224G= (p.Arg75=) | |
| 5 | g.173234860C>G | CA362163445 | NKX2-5 | c.224G>C (p.Arg75Pro) | |
| 5 | g.173234860C>T | CA362163446 | NKX2-5 | c.224G>A (p.Arg75His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.173234861G>A | CA362163449 | NKX2-5 | c.223C>T (p.Arg75Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234861G>C | CA362163448 | NKX2-5 | c.223C>G (p.Arg75Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234861G= | CA1601617021 | NKX2-5 | c.223C= (p.Arg75=) | |
| 5 | g.173234861G>T | CA362163447 | NKX2-5 | c.223C>A (p.Arg75Ser) | gnomAD v4 |
| 5 | g.173234862G>A | CA447975332 | NKX2-5 | c.222C>T (p.Gly74=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234862G>C | CA447975331 | NKX2-5 | c.222C>G (p.Gly74=) | |
| 5 | g.173234862G= | CA1601617023 | NKX2-5 | c.222C= (p.Gly74=) | |
| 5 | g.173234862G>T | CA447975330 | NKX2-5 | c.222C>A (p.Gly74=) | |
| 5 | g.173234862_173234869delinsGCCCAGCT | CA1601617022 | NKX2-5 | c.215_222delinsAGCTGGGC (p.Glu72=) | |
| 5 | g.173234863C>A | CA362163451 | NKX2-5 | c.221G>T (p.Gly74Val) | |
| 5 | g.173234863C= | CA1601617024 | NKX2-5 | c.221G= (p.Gly74=) | |
| 5 | g.173234863C>G | CA362163450 | NKX2-5 | c.221G>C (p.Gly74Ala) | |
| 5 | g.173234863C>T | CA3563827 | NKX2-5 | c.221G>A (p.Gly74Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234864_173234870del | CA212910 | NKX2-5 | c.215_221del (p.Glu72AlafsTer?) | ClinVar dbSNP |
| 5 | g.173234864C>A | CA362163452 | NKX2-5 | c.220G>T (p.Gly74Cys) | |
| 5 | g.173234864C>G | CA362163453 | NKX2-5 | c.220G>C (p.Gly74Arg) | gnomAD v4 |
| 5 | g.173234864C>T | CA362163454 | NKX2-5 | c.220G>A (p.Gly74Ser) | |
| 5 | g.173234865C>A | CA447975104 | NKX2-5 | c.219G>T (p.Leu73=) | |
| 5 | g.173234865C= | CA1601617025 | NKX2-5 | c.219G= (p.Leu73=) | |
| 5 | g.173234865C>G | CA447975106 | NKX2-5 | c.219G>C (p.Leu73=) | |
| 5 | g.173234865C>T | CA447975108 | NKX2-5 | c.219G>A (p.Leu73=) | dbSNP |
| 5 | g.173234866A>C | CA362163455 | NKX2-5 | c.218T>G (p.Leu73Arg) | |
| 5 | g.173234866A>G | CA362163456 | NKX2-5 | c.218T>C (p.Leu73Pro) | |
| 5 | g.173234866A>T | CA362163457 | NKX2-5 | c.218T>A (p.Leu73Gln) | |
| 5 | g.173234867G>A | CA447975111 | NKX2-5 | c.217C>T (p.Leu73=) | ClinVar dbSNP |
| 5 | g.173234867G>C | CA362163458 | NKX2-5 | c.217C>G (p.Leu73Val) | |
| 5 | g.173234867G= | CA1601617026 | NKX2-5 | c.217C= (p.Leu73=) | |
| 5 | g.173234867G>T | CA362163459 | NKX2-5 | c.217C>A (p.Leu73Met) | |
| 5 | g.173234868C>A | CA362163460 | NKX2-5 | c.216G>T (p.Glu72Asp) | |
| 5 | g.173234868C>G | CA362163461 | NKX2-5 | c.216G>C (p.Glu72Asp) | |
| 5 | g.173234868C>T | CA447975115 | NKX2-5 | c.216G>A (p.Glu72=) | |
| 5 | g.173234869T>A | CA362163464 | NKX2-5 | c.215A>T (p.Glu72Val) | |
| 5 | g.173234869T>C | CA362163462 | NKX2-5 | c.215A>G (p.Glu72Gly) | |
| 5 | g.173234869T>G | CA362163463 | NKX2-5 | c.215A>C (p.Glu72Ala) | |
| 5 | g.173234870C>A | CA362163465 | NKX2-5 | c.214G>T (p.Glu72Ter) | |
| 5 | g.173234870C>G | CA362163466 | NKX2-5 | c.214G>C (p.Glu72Gln) | |
| 5 | g.173234870C>T | CA362163467 | NKX2-5 | c.214G>A (p.Glu72Lys) | |
| 5 | g.173234871T>A | CA447975119 | NKX2-5 | c.213A>T (p.Ala71=) | |
| 5 | g.173234871T>C | CA447975120 | NKX2-5 | c.213A>G (p.Ala71=) | |
| 5 | g.173234871T>G | CA447975122 | NKX2-5 | c.213A>C (p.Ala71=) | |
| 5 | g.173234872del | CA2573139449 | NKX2-5 | c.212del (p.Ala71GlufsTer?) | ClinVar dbSNP |
| 5 | g.173234872G>A | CA362163468 | NKX2-5 | c.212C>T (p.Ala71Val) | |
| 5 | g.173234872G>C | CA362163469 | NKX2-5 | c.212C>G (p.Ala71Gly) | gnomAD v4 |
| 5 | g.173234872G>T | CA362163470 | NKX2-5 | c.212C>A (p.Ala71Glu) | |
| 5 | g.173234876_173234877del | CA2676543194 | NKX2-5 | c.211_212del (p.Ala71ArgfsTer?) | gnomAD v4 |
| 5 | g.173234873C>A | CA362163471 | NKX2-5 | c.211G>T (p.Ala71Ser) | |
| 5 | g.173234873C= | CA1601617027 | NKX2-5 | c.211G= (p.Ala71=) | |
| 5 | g.173234873C>G | CA3563828 | NKX2-5 | c.211G>C (p.Ala71Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234873C>T | CA362163472 | NKX2-5 | c.211G>A (p.Ala71Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234874G>A | CA447975128 | NKX2-5 | c.210C>T (p.Arg70=) | gnomAD v4 |
| 5 | g.173234874G>C | CA3563829 | NKX2-5 | c.210C>G (p.Arg70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234874G= | CA1601617028 | NKX2-5 | c.210C= (p.Arg70=) | |
| 5 | g.173234874G>T | CA447975129 | NKX2-5 | c.210C>A (p.Arg70=) |