UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.4862736C>A | CA356138252 | MSX1 | c.505C>A (p.His169Asn) n.217C>A | |
| 4 | g.4862736C= | CA1435013627 | MSX1 | c.505C= (p.His169=) n.217C= | |
| 4 | g.4862736C>G | CA356138253 | MSX1 | c.505C>G (p.His169Asp) n.217C>G | |
| 4 | g.4862736C>T | CA91671852 | MSX1 | c.505C>T (p.His169Tyr) n.217C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862737A>C | CA356138254 | MSX1 | c.506A>C (p.His169Pro) n.218A>C | |
| 4 | g.4862737A>G | CA356138255 | MSX1 | c.506A>G (p.His169Arg) n.218A>G | |
| 4 | g.4862737A>T | CA356138256 | MSX1 | c.506A>T (p.His169Leu) n.218A>T | |
| 4 | g.4862738C>A | CA356138257 | MSX1 | c.507C>A (p.His169Gln) n.219C>A | gnomAD v4 |
| 4 | g.4862738C>G | CA356138258 | MSX1 | c.507C>G (p.His169Gln) n.219C>G | |
| 4 | g.4862738C>T | CA438365948 | MSX1 | c.507C>T (p.His169=) n.219C>T | |
| 4 | g.4862738_4862739delinsCA | CA1435013628 | MSX1 | c.507_508delinsCA (p.His169=) n.219_220delinsCA | |
| 4 | g.4862739A= | CA1435013629 | MSX1 | c.508A= (p.Lys170=) n.220A= | |
| 4 | g.4862739A>C | CA356138260 | MSX1 | c.508A>C (p.Lys170Gln) n.220A>C | |
| 4 | g.4862739A>G | CA2833063 | MSX1 | c.508A>G (p.Lys170Glu) n.220A>G | dbSNP ExAC gnomAD v2 |
| 4 | g.4862739A>T | CA356138259 | MSX1 | c.508A>T (p.Lys170Ter) n.220A>T | |
| 4 | g.4862740del | CA91671864 | MSX1 | c.509del (p.Lys170ArgfsTer?) n.221del | dbSNP |
| 4 | g.4862740A= | CA1435013630 | MSX1 | c.509A= (p.Lys170=) n.221A= | |
| 4 | g.4862740A>C | CA356138261 | MSX1 | c.509A>C (p.Lys170Thr) n.221A>C | |
| 4 | g.4862740A>G | CA91671881 | MSX1 | c.509A>G (p.Lys170Arg) n.221A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.4862740A>T | CA356138262 | MSX1 | c.509A>T (p.Lys170Met) n.221A>T | |
| 4 | g.4862741G>A | CA438365950 | MSX1 | c.510G>A (p.Lys170=) n.222G>A | |
| 4 | g.4862741G>C | CA356138263 | MSX1 | c.510G>C (p.Lys170Asn) n.222G>C | |
| 4 | g.4862741G>T | CA356138264 | MSX1 | c.510G>T (p.Lys170Asn) n.222G>T | |
| 4 | g.4862742A>C | CA356138265 | MSX1 | c.511A>C (p.Thr171Pro) n.223A>C | |
| 4 | g.4862742A>G | CA356138266 | MSX1 | c.511A>G (p.Thr171Ala) n.223A>G | |
| 4 | g.4862742A>T | CA356138267 | MSX1 | c.511A>T (p.Thr171Ser) n.223A>T | |
| 4 | g.4862743C>A | CA2833064 | MSX1 | c.512C>A (p.Thr171Lys) n.224C>A | dbSNP ExAC gnomAD v2 |
| 4 | g.4862743C= | CA1435013631 | MSX1 | c.512C= (p.Thr171=) n.224C= | |
| 4 | g.4862743C>G | CA356138268 | MSX1 | c.512C>G (p.Thr171Arg) n.224C>G | gnomAD v3 gnomAD v4 |
| 4 | g.4862743C>T | CA2833065 | MSX1 | c.512C>T (p.Thr171Met) n.224C>T | dbSNP ExAC gnomAD v4 COSMIC |
| 4 | g.4862744G>A | CA438365954 | MSX1 | c.513G>A (p.Thr171=) n.225G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862744G>C | CA438365956 | MSX1 | c.513G>C (p.Thr171=) n.225G>C | dbSNP gnomAD v4 |
| 4 | g.4862744G= | CA1435013632 | MSX1 | c.513G= (p.Thr171=) n.225G= | |
| 4 | g.4862744G>T | CA438365955 | MSX1 | c.513G>T (p.Thr171=) n.225G>T | |
| 4 | g.4862744_4862745insCA | CA2833066 | MSX1 | c.513_514insCA (p.Asn172GlnfsTer?) n.225_226insCA | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862745A>C | CA356138271 | MSX1 | c.514A>C (p.Asn172His) n.226A>C | |
| 4 | g.4862745A>G | CA356138269 | MSX1 | c.514A>G (p.Asn172Asp) n.226A>G | |
| 4 | g.4862745A>T | CA356138270 | MSX1 | c.514A>T (p.Asn172Tyr) n.226A>T | |
| 4 | g.4862746A>C | CA356138274 | MSX1 | c.515A>C (p.Asn172Thr) n.227A>C | |
| 4 | g.4862746A>G | CA356138272 | MSX1 | c.515A>G (p.Asn172Ser) n.227A>G | |
| 4 | g.4862746A>T | CA356138273 | MSX1 | c.515A>T (p.Asn172Ile) n.227A>T | |
| 4 | g.4862747C>A | CA356138275 | MSX1 | c.516C>A (p.Asn172Lys) n.228C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862747C= | CA1435013633 | MSX1 | c.516C= (p.Asn172=) n.228C= | |
| 4 | g.4862747C>G | CA356138276 | MSX1 | c.516C>G (p.Asn172Lys) n.228C>G | |
| 4 | g.4862747C>T | CA438365958 | MSX1 | c.516C>T (p.Asn172=) n.228C>T | gnomAD v4 |
| 4 | g.4862750_4862756dup | CA2573052331 | MSX1 | c.519_525dup (p.Arg176Ter) n.231_237dup | ClinVar dbSNP |
| 4 | g.4862748C>A | CA356138277 | MSX1 | c.517C>A (p.Arg173Ser) n.229C>A | |
| 4 | g.4862748C= | CA1435013634 | MSX1 | c.517C= (p.Arg173=) n.229C= | |
| 4 | g.4862748C>G | CA356138278 | MSX1 | c.517C>G (p.Arg173Gly) n.229C>G | dbSNP gnomAD v4 |
| 4 | g.4862748C>T | CA356138279 | MSX1 | c.517C>T (p.Arg173Cys) n.229C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862749G>A | CA356138280 | MSX1 | c.518G>A (p.Arg173His) n.230G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862749G>C | CA91671909 | MSX1 | c.518G>C (p.Arg173Pro) n.230G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862749G= | CA1435013635 | MSX1 | c.518G= (p.Arg173=) n.230G= | |
| 4 | g.4862749G>T | CA356138281 | MSX1 | c.518G>T (p.Arg173Leu) n.230G>T | gnomAD v4 |
| 4 | g.4862750T>A | CA438365960 | MSX1 | c.519T>A (p.Arg173=) n.231T>A | |
| 4 | g.4862750T>C | CA2833067 | MSX1 | c.519T>C (p.Arg173=) n.231T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862750T>G | CA438365962 | MSX1 | c.519T>G (p.Arg173=) n.231T>G | |
| 4 | g.4862750T= | CA1435013636 | MSX1 | c.519T= (p.Arg173=) n.231T= | |
| 4 | g.4862751A>C | CA356138284 | MSX1 | c.520A>C (p.Lys174Gln) n.232A>C | |
| 4 | g.4862751A>G | CA356138283 | MSX1 | c.520A>G (p.Lys174Glu) n.232A>G | |
| 4 | g.4862751A>T | CA356138282 | MSX1 | c.520A>T (p.Lys174Ter) n.232A>T | |
| 4 | g.4862752A>C | CA356138285 | MSX1 | c.521A>C (p.Lys174Thr) n.233A>C | |
| 4 | g.4862752A>G | CA356138286 | MSX1 | c.521A>G (p.Lys174Arg) n.233A>G | |
| 4 | g.4862752A>T | CA356138287 | MSX1 | c.521A>T (p.Lys174Met) n.233A>T | |
| 4 | g.4862753G>A | CA91671923 | MSX1 | c.522G>A (p.Lys174=) n.234G>A | dbSNP gnomAD v4 |
| 4 | g.4862753G>C | CA356138288 | MSX1 | c.522G>C (p.Lys174Asn) n.234G>C | |
| 4 | g.4862753G= | CA1435013637 | MSX1 | c.522G= (p.Lys174=) n.234G= | |
| 4 | g.4862753G>T | CA356138289 | MSX1 | c.522G>T (p.Lys174Asn) n.234G>T | |
| 4 | g.4862754C>A | CA356138290 | MSX1 | c.523C>A (p.Pro175Thr) n.235C>A | gnomAD v4 |
| 4 | g.4862754C>G | CA356138291 | MSX1 | c.523C>G (p.Pro175Ala) n.235C>G | |
| 4 | g.4862754C>T | CA356138292 | MSX1 | c.523C>T (p.Pro175Ser) n.235C>T | |
| 4 | g.4862755C>A | CA356138293 | MSX1 | c.524C>A (p.Pro175Gln) n.236C>A | |
| 4 | g.4862755C= | CA1435013638 | MSX1 | c.524C= (p.Pro175=) n.236C= | |
| 4 | g.4862755C>G | CA356138294 | MSX1 | c.524C>G (p.Pro175Arg) n.236C>G | |
| 4 | g.4862755C>T | CA91671931 | MSX1 | c.524C>T (p.Pro175Leu) n.236C>T | dbSNP |
| 4 | g.4862756G>A | CA91671934 | MSX1 | c.525G>A (p.Pro175=) n.237G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862756G>C | CA438365967 | MSX1 | c.525G>C (p.Pro175=) n.237G>C | |
| 4 | g.4862756G= | CA1435013639 | MSX1 | c.525G= (p.Pro175=) n.237G= | |
| 4 | g.4862756G>T | CA438365966 | MSX1 | c.525G>T (p.Pro175=) n.237G>T | |
| 4 | g.4862757C>A | CA438365968 | MSX1 | c.526C>A (p.Arg176=) n.238C>A | ClinVar dbSNP |
| 4 | g.4862757C= | CA1435013640 | MSX1 | c.526C= (p.Arg176=) n.238C= | |
| 4 | g.4862757C>G | CA356138295 | MSX1 | c.526C>G (p.Arg176Gly) n.238C>G | |
| 4 | g.4862757C>T | CA356138296 | MSX1 | c.526C>T (p.Arg176Trp) n.238C>T | gnomAD v4 COSMIC |
| 4 | g.4862758G>A | CA356138299 | MSX1 | c.527G>A (p.Arg176Gln) n.239G>A | ClinVar COSMIC |
| 4 | g.4862758G>C | CA356138298 | MSX1 | c.527G>C (p.Arg176Pro) n.239G>C | |
| 4 | g.4862758G>T | CA356138297 | MSX1 | c.527G>T (p.Arg176Leu) n.239G>T | |
| 4 | g.4862759G>A | CA438365971 | MSX1 | c.528G>A (p.Arg176=) n.240G>A | |
| 4 | g.4862759G>C | CA438365972 | MSX1 | c.528G>C (p.Arg176=) n.240G>C | |
| 4 | g.4862759G>T | CA438365973 | MSX1 | c.528G>T (p.Arg176=) n.240G>T | |
| 4 | g.4862760A>C | CA356138302 | MSX1 | c.529A>C (p.Thr177Pro) n.241A>C | |
| 4 | g.4862760A>G | CA356138300 | MSX1 | c.529A>G (p.Thr177Ala) n.241A>G | |
| 4 | g.4862760A>T | CA356138301 | MSX1 | c.529A>T (p.Thr177Ser) n.241A>T | |
| 4 | g.4862761C>A | CA356138303 | MSX1 | c.530C>A (p.Thr177Lys) n.242C>A | |
| 4 | g.4862761C>G | CA356138304 | MSX1 | c.530C>G (p.Thr177Arg) n.242C>G | |
| 4 | g.4862761C>T | CA356138305 | MSX1 | c.530C>T (p.Thr177Met) n.242C>T | |
| 4 | g.4862762G>A | CA2833068 | MSX1 | c.531G>A (p.Thr177=) n.243G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.4862762G>C | CA438365976 | MSX1 | c.531G>C (p.Thr177=) n.243G>C | |
| 4 | g.4862762G= | CA1435013641 | MSX1 | c.531G= (p.Thr177=) n.243G= | |
| 4 | g.4862762G>T | CA438365977 | MSX1 | c.531G>T (p.Thr177=) n.243G>T | dbSNP |
| 4 | g.4862763C>A | CA356138306 | MSX1 | c.532C>A (p.Pro178Thr) n.244C>A | |
| 4 | g.4862763C>G | CA356138307 | MSX1 | c.532C>G (p.Pro178Ala) n.244C>G | gnomAD v4 |
| 4 | g.4862763C>T | CA356138308 | MSX1 | c.532C>T (p.Pro178Ser) n.244C>T | gnomAD v4 |
| 4 | g.4862764C>A | CA356138309 | MSX1 | c.533C>A (p.Pro178His) n.245C>A | |
| 4 | g.4862764C>G | CA356138310 | MSX1 | c.533C>G (p.Pro178Arg) n.245C>G | |
| 4 | g.4862764C>T | CA356138311 | MSX1 | c.533C>T (p.Pro178Leu) n.245C>T | gnomAD v4 |
| 4 | g.4862765C>A | CA438365980 | MSX1 | c.534C>A (p.Pro178=) n.246C>A | |
| 4 | g.4862765C>G | CA438365979 | MSX1 | c.534C>G (p.Pro178=) n.246C>G | |
| 4 | g.4862765C>T | CA438365978 | MSX1 | c.534C>T (p.Pro178=) n.246C>T | dbSNP |
| 4 | g.4862766T>A | CA356138313 | MSX1 | c.535T>A (p.Phe179Ile) n.247T>A | dbSNP |
| 4 | g.4862766T>C | CA356138314 | MSX1 | c.535T>C (p.Phe179Leu) n.247T>C | |
| 4 | g.4862766T>G | CA356138312 | MSX1 | c.535T>G (p.Phe179Val) n.247T>G | |
| 4 | g.4862766T= | CA1435013642 | MSX1 | c.535T= (p.Phe179=) n.247T= | |
| 4 | g.4862767T>A | CA356138315 | MSX1 | c.536T>A (p.Phe179Tyr) n.248T>A | |
| 4 | g.4862767T>C | CA356138316 | MSX1 | c.536T>C (p.Phe179Ser) n.248T>C | |
| 4 | g.4862767T>G | CA356138317 | MSX1 | c.536T>G (p.Phe179Cys) n.248T>G | COSMIC |
| 4 | g.4862768C>A | CA356138318 | MSX1 | c.537C>A (p.Phe179Leu) n.249C>A | dbSNP |
| 4 | g.4862768C= | CA1435013643 | MSX1 | c.537C= (p.Phe179=) n.249C= | |
| 4 | g.4862768C>G | CA356138319 | MSX1 | c.537C>G (p.Phe179Leu) n.249C>G | |
| 4 | g.4862768C>T | CA438365983 | MSX1 | c.537C>T (p.Phe179=) n.249C>T | gnomAD v4 |
| 4 | g.4862769A>C | CA356138322 | MSX1 | c.538A>C (p.Thr180Pro) n.250A>C | |
| 4 | g.4862769A>G | CA356138320 | MSX1 | c.538A>G (p.Thr180Ala) n.250A>G | |
| 4 | g.4862769A>T | CA356138321 | MSX1 | c.538A>T (p.Thr180Ser) n.250A>T | |
| 4 | g.4862770C>A | CA356138323 | MSX1 | c.539C>A (p.Thr180Asn) n.251C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862770C= | CA1435013644 | MSX1 | c.539C= (p.Thr180=) n.251C= | |
| 4 | g.4862770C>G | CA356138324 | MSX1 | c.539C>G (p.Thr180Ser) n.251C>G | gnomAD v4 |
| 4 | g.4862770C>T | CA356138325 | MSX1 | c.539C>T (p.Thr180Ile) n.251C>T | |
| 4 | g.4862771C>A | CA438365988 | MSX1 | c.540C>A (p.Thr180=) n.252C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862771C= | CA1435013645 | MSX1 | c.540C= (p.Thr180=) n.252C= | |
| 4 | g.4862771C>G | CA438365989 | MSX1 | c.540C>G (p.Thr180=) n.252C>G | |
| 4 | g.4862771C>T | CA438365990 | MSX1 | c.540C>T (p.Thr180=) n.252C>T | |
| 4 | g.4862772A>C | CA356138326 | MSX1 | c.541A>C (p.Thr181Pro) n.253A>C | |
| 4 | g.4862772A>G | CA356138327 | MSX1 | c.541A>G (p.Thr181Ala) n.253A>G | |
| 4 | g.4862772A>T | CA356138328 | MSX1 | c.541A>T (p.Thr181Ser) n.253A>T | |
| 4 | g.4862773C>A | CA356138330 | MSX1 | c.542C>A (p.Thr181Asn) n.254C>A | |
| 4 | g.4862773C>G | CA356138331 | MSX1 | c.542C>G (p.Thr181Ser) n.254C>G | |
| 4 | g.4862773C>T | CA356138329 | MSX1 | c.542C>T (p.Thr181Ile) n.254C>T | gnomAD v4 |
| 4 | g.4862774C>A | CA438365991 | MSX1 | c.543C>A (p.Thr181=) n.255C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862774C= | CA1435013646 | MSX1 | c.543C= (p.Thr181=) n.255C= | |
| 4 | g.4862774C>G | CA438365992 | MSX1 | c.543C>G (p.Thr181=) n.255C>G | dbSNP gnomAD v4 |
| 4 | g.4862774C>T | CA2833069 | MSX1 | c.543C>T (p.Thr181=) n.255C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862775G>A | CA2833070 | MSX1 | c.544G>A (p.Ala182Thr) n.256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862775G>C | CA356138332 | MSX1 | c.544G>C (p.Ala182Pro) n.256G>C | |
| 4 | g.4862775G= | CA1435013647 | MSX1 | c.544G= (p.Ala182=) n.256G= | |
| 4 | g.4862775G>T | CA356138333 | MSX1 | c.544G>T (p.Ala182Ser) n.256G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862776C>A | CA356138334 | MSX1 | c.545C>A (p.Ala182Glu) n.257C>A | |
| 4 | g.4862776C= | CA1435013648 | MSX1 | c.545C= (p.Ala182=) n.257C= | |
| 4 | g.4862776C>G | CA356138335 | MSX1 | c.545C>G (p.Ala182Gly) n.257C>G | |
| 4 | g.4862776C>T | CA2833071 | MSX1 | c.545C>T (p.Ala182Val) n.257C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862776_4862777insT | CA2669788567 | MSX1 | c.545_546insT (p.Gln183AlafsTer?) n.257_258insT | gnomAD v4 |
| 4 | g.4862777G>A | CA2833072 | MSX1 | c.546G>A (p.Ala182=) n.258G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.4862777G>C | CA438365996 | MSX1 | c.546G>C (p.Ala182=) n.258G>C | gnomAD v4 |
| 4 | g.4862777G= | CA1435013649 | MSX1 | c.546G= (p.Ala182=) n.258G= | |
| 4 | g.4862777G>T | CA438365998 | MSX1 | c.546G>T (p.Ala182=) n.258G>T | gnomAD v4 |
| 4 | g.4862778C>A | CA356138336 | MSX1 | c.547C>A (p.Gln183Lys) n.259C>A | |
| 4 | g.4862778C>G | CA356138337 | MSX1 | c.547C>G (p.Gln183Glu) n.259C>G | |
| 4 | g.4862778C>T | CA356138338 | MSX1 | c.547C>T (p.Gln183Ter) n.259C>T | ClinVar |
| 4 | g.4862779A>C | CA356138339 | MSX1 | c.548A>C (p.Gln183Pro) n.260A>C | |
| 4 | g.4862779A>G | CA356138340 | MSX1 | c.548A>G (p.Gln183Arg) n.260A>G | |
| 4 | g.4862779A>T | CA356138341 | MSX1 | c.548A>T (p.Gln183Leu) n.260A>T | |
| 4 | g.4862779_4862850del | CA2760244033 | MSX1 | c.548_619del (p.Gln183_Ser207delinsArg) n.260_331del | |
| 4 | g.4862780G>A | CA438366002 | MSX1 | c.549G>A (p.Gln183=) n.261G>A | dbSNP gnomAD v4 |
| 4 | g.4862780G>C | CA356138342 | MSX1 | c.549G>C (p.Gln183His) n.261G>C | |
| 4 | g.4862780G>T | CA356138343 | MSX1 | c.549G>T (p.Gln183His) n.261G>T | |
| 4 | g.4862781C>A | CA356138344 | MSX1 | c.550C>A (p.Leu184Met) n.262C>A | |
| 4 | g.4862781C>G | CA356138345 | MSX1 | c.550C>G (p.Leu184Val) n.262C>G | |
| 4 | g.4862781C>T | CA438366003 | MSX1 | c.550C>T (p.Leu184=) n.262C>T | gnomAD v4 |
| 4 | g.4862782T>A | CA356138346 | MSX1 | c.551T>A (p.Leu184Gln) n.263T>A | |
| 4 | g.4862782T>C | CA356138347 | MSX1 | c.551T>C (p.Leu184Pro) n.263T>C | |
| 4 | g.4862782T>G | CA356138348 | MSX1 | c.551T>G (p.Leu184Arg) n.263T>G | |
| 4 | g.4862783G>A | CA438366005 | MSX1 | c.552G>A (p.Leu184=) n.264G>A | |
| 4 | g.4862783G>C | CA438366006 | MSX1 | c.552G>C (p.Leu184=) n.264G>C | |
| 4 | g.4862783G>T | CA438366007 | MSX1 | c.552G>T (p.Leu184=) n.264G>T | |
| 4 | g.4862784C>A | CA356138349 | MSX1 | c.553C>A (p.Leu185Met) n.265C>A | |
| 4 | g.4862784C>G | CA356138350 | MSX1 | c.553C>G (p.Leu185Val) n.265C>G | |
| 4 | g.4862784C>T | CA438366008 | MSX1 | c.553C>T (p.Leu185=) n.265C>T | |
| 4 | g.4862785T>A | CA356138351 | MSX1 | c.554T>A (p.Leu185Gln) n.266T>A | |
| 4 | g.4862785T>C | CA2833073 | MSX1 | c.554T>C (p.Leu185Pro) n.266T>C | dbSNP ExAC gnomAD v2 |
| 4 | g.4862785T>G | CA356138352 | MSX1 | c.554T>G (p.Leu185Arg) n.266T>G | |
| 4 | g.4862785T= | CA1435013650 | MSX1 | c.554T= (p.Leu185=) n.266T= | |
| 4 | g.4862786G>A | CA438366010 | MSX1 | c.555G>A (p.Leu185=) n.267G>A | gnomAD v4 |
| 4 | g.4862786G>C | CA438366012 | MSX1 | c.555G>C (p.Leu185=) n.267G>C | |
| 4 | g.4862786G>T | CA438366011 | MSX1 | c.555G>T (p.Leu185=) n.267G>T | |
| 4 | g.4862787G>A | CA356138353 | MSX1 | c.556G>A (p.Ala186Thr) n.268G>A | |
| 4 | g.4862787G>C | CA356138354 | MSX1 | c.556G>C (p.Ala186Pro) n.268G>C | |
| 4 | g.4862787G>T | CA356138355 | MSX1 | c.556G>T (p.Ala186Ser) n.268G>T | |
| 4 | g.4862788C>A | CA356138357 | MSX1 | c.557C>A (p.Ala186Glu) n.269C>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862788C= | CA1435013651 | MSX1 | c.557C= (p.Ala186=) n.269C= | |
| 4 | g.4862788C>G | CA356138358 | MSX1 | c.557C>G (p.Ala186Gly) n.269C>G | |
| 4 | g.4862788C>T | CA356138356 | MSX1 | c.557C>T (p.Ala186Val) n.269C>T | ClinVar COSMIC |
| 4 | g.4862789G>A | CA438366014 | MSX1 | c.558G>A (p.Ala186=) n.270G>A | gnomAD v4 |
| 4 | g.4862789G>C | CA438366015 | MSX1 | c.558G>C (p.Ala186=) n.270G>C | dbSNP |
| 4 | g.4862789G= | CA1435013652 | MSX1 | c.558G= (p.Ala186=) n.270G= | |
| 4 | g.4862789G>T | CA438366016 | MSX1 | c.558G>T (p.Ala186=) n.270G>T | dbSNP |
| 4 | g.4862790C>A | CA356138359 | MSX1 | c.559C>A (p.Leu187Met) n.271C>A | |
| 4 | g.4862790C>G | CA356138360 | MSX1 | c.559C>G (p.Leu187Val) n.271C>G | |
| 4 | g.4862790C>T | CA438366017 | MSX1 | c.559C>T (p.Leu187=) n.271C>T | |
| 4 | g.4862791T>A | CA356138361 | MSX1 | c.560T>A (p.Leu187Gln) n.272T>A | |
| 4 | g.4862791T>C | CA356138362 | MSX1 | c.560T>C (p.Leu187Pro) n.272T>C | |
| 4 | g.4862791T>G | CA356138363 | MSX1 | c.560T>G (p.Leu187Arg) n.272T>G | |
| 4 | g.4862792G>A | CA2833074 | MSX1 | c.561G>A (p.Leu187=) n.273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862792G>C | CA438366018 | MSX1 | c.561G>C (p.Leu187=) n.273G>C | |
| 4 | g.4862792G= | CA1435013653 | MSX1 | c.561G= (p.Leu187=) n.273G= | |
| 4 | g.4862792G>T | CA438366019 | MSX1 | c.561G>T (p.Leu187=) n.273G>T | |
| 4 | g.4862793G>A | CA356138366 | MSX1 | c.562G>A (p.Glu188Lys) n.274G>A | |
| 4 | g.4862793G>C | CA356138364 | MSX1 | c.562G>C (p.Glu188Gln) n.274G>C | dbSNP |
| 4 | g.4862793G= | CA1435013654 | MSX1 | c.562G= (p.Glu188=) n.274G= | |
| 4 | g.4862793G>T | CA356138365 | MSX1 | c.562G>T (p.Glu188Ter) n.274G>T | |
| 4 | g.4862794A>C | CA356138367 | MSX1 | c.563A>C (p.Glu188Ala) n.275A>C | |
| 4 | g.4862794A>G | CA356138368 | MSX1 | c.563A>G (p.Glu188Gly) n.275A>G | |
| 4 | g.4862794A>T | CA356138369 | MSX1 | c.563A>T (p.Glu188Val) n.275A>T | |
| 4 | g.4862795G>A | CA438366021 | MSX1 | c.564G>A (p.Glu188=) n.276G>A | |
| 4 | g.4862795G>C | CA356138370 | MSX1 | c.564G>C (p.Glu188Asp) n.276G>C | |
| 4 | g.4862795G>T | CA356138371 | MSX1 | c.564G>T (p.Glu188Asp) n.276G>T | |
| 4 | g.4862796C>A | CA356138372 | MSX1 | c.565C>A (p.Arg189Ser) n.277C>A | |
| 4 | g.4862796C= | CA1435013655 | MSX1 | c.565C= (p.Arg189=) n.277C= | |
| 4 | g.4862796C>G | CA356138374 | MSX1 | c.565C>G (p.Arg189Gly) n.277C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862796C>T | CA356138373 | MSX1 | c.565C>T (p.Arg189Cys) n.277C>T | gnomAD v4 |
| 4 | g.4862797G>A | CA356138375 | MSX1 | c.566G>A (p.Arg189His) n.278G>A | dbSNP gnomAD v4 COSMIC |
| 4 | g.4862797G>C | CA356138376 | MSX1 | c.566G>C (p.Arg189Pro) n.278G>C | |
| 4 | g.4862797G= | CA1435013656 | MSX1 | c.566G= (p.Arg189=) n.278G= | |
| 4 | g.4862797G>T | CA2833075 | MSX1 | c.566G>T (p.Arg189Leu) n.278G>T | dbSNP ExAC gnomAD v4 |
| 4 | g.4862797_4862803dup | CA2586973672 | MSX1 | c.566_572dup (p.Phe191LeufsTer25) n.278_284dup | |
| 4 | g.4862798C>A | CA438366025 | MSX1 | c.567C>A (p.Arg189=) n.279C>A | |
| 4 | g.4862798C>G | CA438366026 | MSX1 | c.567C>G (p.Arg189=) n.279C>G | |
| 4 | g.4862798C>T | CA438366028 | MSX1 | c.567C>T (p.Arg189=) n.279C>T | gnomAD v4 |
| 4 | g.4862799A>C | CA356138377 | MSX1 | c.568A>C (p.Lys190Gln) n.280A>C | |
| 4 | g.4862799A>G | CA356138378 | MSX1 | c.568A>G (p.Lys190Glu) n.280A>G | |
| 4 | g.4862799A>T | CA356138379 | MSX1 | c.568A>T (p.Lys190Ter) n.280A>T | |
| 4 | g.4862800A= | CA1435013657 | MSX1 | c.569A= (p.Lys190=) n.281A= | |
| 4 | g.4862800A>C | CA356138380 | MSX1 | c.569A>C (p.Lys190Thr) n.281A>C | |
| 4 | g.4862800A>G | CA91672003 | MSX1 | c.569A>G (p.Lys190Arg) n.281A>G | dbSNP gnomAD v4 |
| 4 | g.4862800A>T | CA356138381 | MSX1 | c.569A>T (p.Lys190Met) n.281A>T | |
| 4 | g.4862801G>A | CA438366031 | MSX1 | c.570G>A (p.Lys190=) n.282G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862801G>C | CA356138382 | MSX1 | c.570G>C (p.Lys190Asn) n.282G>C | |
| 4 | g.4862801G= | CA1435013658 | MSX1 | c.570G= (p.Lys190=) n.282G= | |
| 4 | g.4862801G>T | CA356138383 | MSX1 | c.570G>T (p.Lys190Asn) n.282G>T | |
| 4 | g.4862802T>A | CA356138386 | MSX1 | c.571T>A (p.Phe191Ile) n.283T>A | |
| 4 | g.4862802T>C | CA356138385 | MSX1 | c.571T>C (p.Phe191Leu) n.283T>C | |
| 4 | g.4862802T>G | CA356138384 | MSX1 | c.571T>G (p.Phe191Val) n.283T>G | |
| 4 | g.4862803T>A | CA356138387 | MSX1 | c.572T>A (p.Phe191Tyr) n.284T>A | |
| 4 | g.4862803T>C | CA356138388 | MSX1 | c.572T>C (p.Phe191Ser) n.284T>C | |
| 4 | g.4862803T>G | CA356138389 | MSX1 | c.572T>G (p.Phe191Cys) n.284T>G | |
| 4 | g.4862804C>A | CA356138390 | MSX1 | c.573C>A (p.Phe191Leu) n.285C>A | |
| 4 | g.4862804C>G | CA356138391 | MSX1 | c.573C>G (p.Phe191Leu) n.285C>G | |
| 4 | g.4862804C>T | CA438366033 | MSX1 | c.573C>T (p.Phe191=) n.285C>T | gnomAD v4 |
| 4 | g.4862805C>A | CA356138392 | MSX1 | c.574C>A (p.Arg192Ser) n.286C>A | |
| 4 | g.4862805C>G | CA356138393 | MSX1 | c.574C>G (p.Arg192Gly) n.286C>G | |
| 4 | g.4862805C>T | CA356138394 | MSX1 | c.574C>T (p.Arg192Cys) n.286C>T | dbSNP gnomAD v4 COSMIC |
| 4 | g.4862806G>A | CA91672015 | MSX1 | c.575G>A (p.Arg192His) n.287G>A | dbSNP gnomAD v4 |
| 4 | g.4862806G>C | CA356138395 | MSX1 | c.575G>C (p.Arg192Pro) n.287G>C | |
| 4 | g.4862806G= | CA1435013659 | MSX1 | c.575G= (p.Arg192=) n.287G= | |
| 4 | g.4862806G>T | CA356138396 | MSX1 | c.575G>T (p.Arg192Leu) n.287G>T | dbSNP gnomAD v4 |
| 4 | g.4862807C>A | CA438366035 | MSX1 | c.576C>A (p.Arg192=) n.288C>A | |
| 4 | g.4862807C= | CA1435013660 | MSX1 | c.576C= (p.Arg192=) n.288C= | |
| 4 | g.4862807C>G | CA2833077 | MSX1 | c.576C>G (p.Arg192=) n.288C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862807C>T | CA2833076 | MSX1 | c.576C>T (p.Arg192=) n.288C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862807_4862808insTAG | CA2499217211 | MSX1 | c.576_577insTAG n.288_289insTAG | ClinVar dbSNP |
| 4 | g.4862808C>A | CA356138398 | MSX1 | c.577C>A (p.Gln193Lys) n.289C>A | COSMIC |
| 4 | g.4862808C= | CA1435013661 | MSX1 | c.577C= (p.Gln193=) n.289C= | |
| 4 | g.4862808C>G | CA356138397 | MSX1 | c.577C>G (p.Gln193Glu) n.289C>G | |
| 4 | g.4862808C>T | CA124426 | MSX1 | c.577C>T (p.Gln193Ter) n.289C>T | ClinVar dbSNP |
| 4 | g.4862809A>C | CA356138399 | MSX1 | c.578A>C (p.Gln193Pro) n.290A>C | |
| 4 | g.4862809A>G | CA356138400 | MSX1 | c.578A>G (p.Gln193Arg) n.290A>G | gnomAD v4 |
| 4 | g.4862809A>T | CA356138401 | MSX1 | c.578A>T (p.Gln193Leu) n.290A>T | |
| 4 | g.4862810G>A | CA438366036 | MSX1 | c.579G>A (p.Gln193=) n.291G>A | |
| 4 | g.4862810G>C | CA356138402 | MSX1 | c.579G>C (p.Gln193His) n.291G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862810G= | CA1435013662 | MSX1 | c.579G= (p.Gln193=) n.291G= | |
| 4 | g.4862810G>T | CA356138403 | MSX1 | c.579G>T (p.Gln193His) n.291G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862811A>C | CA356138404 | MSX1 | c.580A>C (p.Lys194Gln) n.292A>C | |
| 4 | g.4862811A>G | CA356138405 | MSX1 | c.580A>G (p.Lys194Glu) n.292A>G | |
| 4 | g.4862811A>T | CA356138406 | MSX1 | c.580A>T (p.Lys194Ter) n.292A>T | |
| 4 | g.4862812A= | CA1435013663 | MSX1 | c.581A= (p.Lys194=) n.293A= | |
| 4 | g.4862812A>C | CA356138407 | MSX1 | c.581A>C (p.Lys194Thr) n.293A>C | |
| 4 | g.4862812A>G | CA2833078 | MSX1 | c.581A>G (p.Lys194Arg) n.293A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862812A>T | CA356138408 | MSX1 | c.581A>T (p.Lys194Met) n.293A>T | |
| 4 | g.4862813G>A | CA2833079 | MSX1 | c.582G>A (p.Lys194=) n.294G>A | dbSNP ExAC gnomAD v2 |
| 4 | g.4862813G>C | CA356138409 | MSX1 | c.582G>C (p.Lys194Asn) n.294G>C | |
| 4 | g.4862813G= | CA1435013664 | MSX1 | c.582G= (p.Lys194=) n.294G= | |
| 4 | g.4862813G>T | CA356138410 | MSX1 | c.582G>T (p.Lys194Asn) n.294G>T | gnomAD v4 |
| 4 | g.4862814C>A | CA356138412 | MSX1 | c.583C>A (p.Gln195Lys) n.295C>A | gnomAD v4 COSMIC |
| 4 | g.4862814C>G | CA356138413 | MSX1 | c.583C>G (p.Gln195Glu) n.295C>G | |
| 4 | g.4862814C>T | CA356138411 | MSX1 | c.583C>T (p.Gln195Ter) n.295C>T | |
| 4 | g.4862815A>C | CA356138414 | MSX1 | c.584A>C (p.Gln195Pro) n.296A>C | gnomAD v4 |
| 4 | g.4862815A>G | CA356138415 | MSX1 | c.584A>G (p.Gln195Arg) n.296A>G | |
| 4 | g.4862815A>T | CA356138416 | MSX1 | c.584A>T (p.Gln195Leu) n.296A>T | |
| 4 | g.4862816G>A | CA438366040 | MSX1 | c.585G>A (p.Gln195=) n.297G>A | |
| 4 | g.4862816G>C | CA356138417 | MSX1 | c.585G>C (p.Gln195His) n.297G>C | |
| 4 | g.4862816G>T | CA356138418 | MSX1 | c.585G>T (p.Gln195His) n.297G>T | |
| 4 | g.4862817T>A | CA356138419 | MSX1 | c.586T>A (p.Tyr196Asn) n.298T>A | |
| 4 | g.4862817T>C | CA356138420 | MSX1 | c.586T>C (p.Tyr196His) n.298T>C | |
| 4 | g.4862817T>G | CA356138421 | MSX1 | c.586T>G (p.Tyr196Asp) n.298T>G | |
| 4 | g.4862818A>C | CA356138422 | MSX1 | c.587A>C (p.Tyr196Ser) n.299A>C | |
| 4 | g.4862818A>G | CA356138423 | MSX1 | c.587A>G (p.Tyr196Cys) n.299A>G | |
| 4 | g.4862818A>T | CA356138424 | MSX1 | c.587A>T (p.Tyr196Phe) n.299A>T | |
| 4 | g.4862819C>A | CA356138425 | MSX1 | c.588C>A (p.Tyr196Ter) n.300C>A | |
| 4 | g.4862819C= | CA1435013665 | MSX1 | c.588C= (p.Tyr196=) n.300C= | |
| 4 | g.4862819C>G | CA356138426 | MSX1 | c.588C>G (p.Tyr196Ter) n.300C>G | |
| 4 | g.4862819C>T | CA438366044 | MSX1 | c.588C>T (p.Tyr196=) n.300C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862821_4862825dup | CA2586973673 | MSX1 | c.590_594dup (p.Ile199CysfsTer20) n.302_306dup | |
| 4 | g.4862820C>A | CA356138427 | MSX1 | c.589C>A (p.Leu197Met) n.301C>A | |
| 4 | g.4862820C>G | CA356138428 | MSX1 | c.589C>G (p.Leu197Val) n.301C>G | |
| 4 | g.4862820C>T | CA438366045 | MSX1 | c.589C>T (p.Leu197=) n.301C>T | |
| 4 | g.4862821T>A | CA356138429 | MSX1 | c.590T>A (p.Leu197Gln) n.302T>A | |
| 4 | g.4862821T>C | CA356138430 | MSX1 | c.590T>C (p.Leu197Pro) n.302T>C | |
| 4 | g.4862821T>G | CA356138431 | MSX1 | c.590T>G (p.Leu197Arg) n.302T>G | |
| 4 | g.4862822G>A | CA438366047 | MSX1 | c.591G>A (p.Leu197=) n.303G>A | |
| 4 | g.4862822G>C | CA438366049 | MSX1 | c.591G>C (p.Leu197=) n.303G>C | |
| 4 | g.4862822G>T | CA438366051 | MSX1 | c.591G>T (p.Leu197=) n.303G>T | |
| 4 | g.4862823T>A | CA356138432 | MSX1 | c.592T>A (p.Ser198Thr) n.304T>A | |
| 4 | g.4862823T>C | CA356138433 | MSX1 | c.592T>C (p.Ser198Pro) n.304T>C | |
| 4 | g.4862823T>G | CA356138434 | MSX1 | c.592T>G (p.Ser198Ala) n.304T>G | |
| 4 | g.4862824C>A | CA356138435 | MSX1 | c.593C>A (p.Ser198Tyr) n.305C>A | |
| 4 | g.4862824C>G | CA356138436 | MSX1 | c.593C>G (p.Ser198Cys) n.305C>G | |
| 4 | g.4862824C>T | CA356138437 | MSX1 | c.593C>T (p.Ser198Phe) n.305C>T | |
| 4 | g.4862825C>A | CA438366052 | MSX1 | c.594C>A (p.Ser198=) n.306C>A | |
| 4 | g.4862825C>G | CA438366054 | MSX1 | c.594C>G (p.Ser198=) n.306C>G | |
| 4 | g.4862825C>T | CA438366055 | MSX1 | c.594C>T (p.Ser198=) n.306C>T | |
| 4 | g.4862826A= | CA1435013666 | MSX1 | c.595A= (p.Ile199=) n.307A= | |
| 4 | g.4862826A>C | CA356138438 | MSX1 | c.595A>C (p.Ile199Leu) n.307A>C | |
| 4 | g.4862826A>G | CA356138439 | MSX1 | c.595A>G (p.Ile199Val) n.307A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862826A>T | CA356138440 | MSX1 | c.595A>T (p.Ile199Phe) n.307A>T | |
| 4 | g.4862827T>A | CA356138442 | MSX1 | c.596T>A (p.Ile199Asn) n.308T>A | |
| 4 | g.4862827T>C | CA356138443 | MSX1 | c.596T>C (p.Ile199Thr) n.308T>C | |
| 4 | g.4862827T>G | CA356138441 | MSX1 | c.596T>G (p.Ile199Ser) n.308T>G | |
| 4 | g.4862828C>A | CA438366059 | MSX1 | c.597C>A (p.Ile199=) n.309C>A | |
| 4 | g.4862828C= | CA1435013667 | MSX1 | c.597C= (p.Ile199=) n.309C= | |
| 4 | g.4862828C>G | CA356138444 | MSX1 | c.597C>G (p.Ile199Met) n.309C>G | |
| 4 | g.4862828C>T | CA2833080 | MSX1 | c.597C>T (p.Ile199=) n.309C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862829G>A | CA356138445 | MSX1 | c.598G>A (p.Ala200Thr) n.310G>A | gnomAD v4 |
| 4 | g.4862829G>C | CA356138447 | MSX1 | c.598G>C (p.Ala200Pro) n.310G>C | |
| 4 | g.4862829G>T | CA356138446 | MSX1 | c.598G>T (p.Ala200Ser) n.310G>T | |
| 4 | g.4862830C>A | CA356138448 | MSX1 | c.599C>A (p.Ala200Asp) n.311C>A | COSMIC |
| 4 | g.4862830C= | CA1435013668 | MSX1 | c.599C= (p.Ala200=) n.311C= | |
| 4 | g.4862830C>G | CA356138449 | MSX1 | c.599C>G (p.Ala200Gly) n.311C>G | |
| 4 | g.4862830C>T | CA356138450 | MSX1 | c.599C>T (p.Ala200Val) n.311C>T | ClinVar dbSNP |
| 4 | g.4862831C>A | CA438366061 | MSX1 | c.600C>A (p.Ala200=) n.312C>A | |
| 4 | g.4862831C= | CA1435013669 | MSX1 | c.600C= (p.Ala200=) n.312C= | |
| 4 | g.4862831C>G | CA438366062 | MSX1 | c.600C>G (p.Ala200=) n.312C>G | |
| 4 | g.4862831C>T | CA438366063 | MSX1 | c.600C>T (p.Ala200=) n.312C>T | gnomAD v4 |
| 4 | g.4862832G>A | CA356138451 | MSX1 | c.601G>A (p.Glu201Lys) n.313G>A | |
| 4 | g.4862832G>C | CA356138452 | MSX1 | c.601G>C (p.Glu201Gln) n.313G>C | gnomAD v4 |
| 4 | g.4862832G>T | CA356138453 | MSX1 | c.601G>T (p.Glu201Ter) n.313G>T | |
| 4 | g.4862833_4862834dup | CA549707243 | MSX1 | c.602_603dup (p.Arg202SerfsTer16) n.314_315dup | dbSNP gnomAD v2 |
| 4 | g.4862833A>C | CA356138454 | MSX1 | c.602A>C (p.Glu201Ala) n.314A>C | |
| 4 | g.4862833A>G | CA356138455 | MSX1 | c.602A>G (p.Glu201Gly) n.314A>G | |
| 4 | g.4862833A>T | CA356138456 | MSX1 | c.602A>T (p.Glu201Val) n.314A>T | |
| 4 | g.4862834G>A | CA438366065 | MSX1 | c.603G>A (p.Glu201=) n.315G>A | |
| 4 | g.4862834G>C | CA356138457 | MSX1 | c.603G>C (p.Glu201Asp) n.315G>C | |
| 4 | g.4862834G>T | CA356138458 | MSX1 | c.603G>T (p.Glu201Asp) n.315G>T | |
| 4 | g.4862839_4862840del | CA2586973674 | MSX1 | c.608_609del (p.Ala203GlyfsTer10) n.320_321del | |
| 4 | g.4862835C>A | CA356138460 | MSX1 | c.604C>A (p.Arg202Ser) n.316C>A | |
| 4 | g.4862835C= | CA1435013670 | MSX1 | c.604C= (p.Arg202=) n.316C= | |
| 4 | g.4862835C>G | CA2833081 | MSX1 | c.604C>G (p.Arg202Gly) n.316C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862835C>T | CA356138459 | MSX1 | c.604C>T (p.Arg202Cys) n.316C>T | gnomAD v4 |
| 4 | g.4862836G>A | CA356138461 | MSX1 | c.605G>A (p.Arg202His) n.317G>A | ClinVar dbSNP |
| 4 | g.4862836G>C | CA124423 | MSX1 | c.605G>C (p.Arg202Pro) n.317G>C | ClinVar dbSNP |
| 4 | g.4862836G= | CA1435013671 | MSX1 | c.605G= (p.Arg202=) n.317G= | |
| 4 | g.4862836G>T | CA356138462 | MSX1 | c.605G>T (p.Arg202Leu) n.317G>T |