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.4862716dup | CA2669788566 | MSX1 | c.485dup (p.Ala163SerfsTer12) n.197dup | gnomAD v4 |
| 4 | g.4862716del | CA2833056 | MSX1 | c.485del (p.Pro162GlnfsTer?) n.197del | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.4862712C>A | CA356138203 | MSX1 | c.481C>A (p.Pro161Thr) n.193C>A | gnomAD v4 |
| 4 | g.4862712C>G | CA356138205 | MSX1 | c.481C>G (p.Pro161Ala) n.193C>G | |
| 4 | g.4862712C>T | CA356138204 | MSX1 | c.481C>T (p.Pro161Ser) n.193C>T | gnomAD v4 |
| 4 | g.4862713C>A | CA356138206 | MSX1 | c.482C>A (p.Pro161His) n.194C>A | gnomAD v4 |
| 4 | g.4862713C= | CA1435013614 | MSX1 | c.482C= (p.Pro161=) n.194C= | |
| 4 | g.4862713C>G | CA356138207 | MSX1 | c.482C>G (p.Pro161Arg) n.194C>G | |
| 4 | g.4862713C>T | CA356138208 | MSX1 | c.482C>T (p.Pro161Leu) n.194C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862714C>A | CA438365924 | MSX1 | c.483C>A (p.Pro161=) n.195C>A | |
| 4 | g.4862714C= | CA1435013615 | MSX1 | c.483C= (p.Pro161=) n.195C= | |
| 4 | g.4862714C>G | CA438365925 | MSX1 | c.483C>G (p.Pro161=) n.195C>G | |
| 4 | g.4862714C>T | CA438365926 | MSX1 | c.483C>T (p.Pro161=) n.195C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862715C>A | CA2833057 | MSX1 | c.484C>A (p.Pro162Thr) n.196C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862715C= | CA1435013616 | MSX1 | c.484C= (p.Pro162=) n.196C= | |
| 4 | g.4862715C>G | CA356138209 | MSX1 | c.484C>G (p.Pro162Ala) n.196C>G | dbSNP gnomAD v2 |
| 4 | g.4862715C>T | CA356138210 | MSX1 | c.484C>T (p.Pro162Ser) n.196C>T | gnomAD v4 |
| 4 | g.4862716C>A | CA356138211 | MSX1 | c.485C>A (p.Pro162Gln) n.197C>A | |
| 4 | g.4862716C= | CA1435013617 | MSX1 | c.485C= (p.Pro162=) n.197C= | |
| 4 | g.4862716C>G | CA356138212 | MSX1 | c.485C>G (p.Pro162Arg) n.197C>G | dbSNP |
| 4 | g.4862716C>T | CA356138213 | MSX1 | c.485C>T (p.Pro162Leu) n.197C>T | dbSNP gnomAD v4 |
| 4 | g.4862717A= | CA1435013618 | MSX1 | c.486A= (p.Pro162=) n.198A= | |
| 4 | g.4862717A>C | CA2833059 | MSX1 | c.486A>C (p.Pro162=) n.198A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862717A>G | CA2833058 | MSX1 | c.486A>G (p.Pro162=) n.198A>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 4 | g.4862717A>T | CA438365927 | MSX1 | c.486A>T (p.Pro162=) n.198A>T | |
| 4 | g.4862718G>A | CA356138215 | MSX1 | c.487G>A (p.Ala163Thr) n.199G>A | |
| 4 | g.4862718G>C | CA356138214 | MSX1 | c.487G>C (p.Ala163Pro) n.199G>C | gnomAD v4 |
| 4 | g.4862718G= | CA1435013619 | MSX1 | c.487G= (p.Ala163=) n.199G= | |
| 4 | g.4862718G>T | CA2833060 | MSX1 | c.487G>T (p.Ala163Ser) n.199G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862718dup | CA2580070729 | MSX1 | c.487dup (p.Ala163GlyfsTer12) n.199dup | ClinVar |
| 4 | g.4862719C>A | CA356138218 | MSX1 | c.488C>A (p.Ala163Asp) n.200C>A | |
| 4 | g.4862719C= | CA1435013620 | MSX1 | c.488C= (p.Ala163=) n.200C= | |
| 4 | g.4862719C>G | CA356138216 | MSX1 | c.488C>G (p.Ala163Gly) n.200C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862719C>T | CA356138217 | MSX1 | c.488C>T (p.Ala163Val) n.200C>T | dbSNP |
| 4 | g.4862720C>A | CA438365928 | MSX1 | c.489C>A (p.Ala163=) n.201C>A | |
| 4 | g.4862720C>G | CA438365929 | MSX1 | c.489C>G (p.Ala163=) n.201C>G | |
| 4 | g.4862720C>T | CA438365930 | MSX1 | c.489C>T (p.Ala163=) n.201C>T | gnomAD v4 |
| 4 | g.4862721T>A | CA356138219 | MSX1 | c.490T>A (p.Cys164Ser) n.202T>A | dbSNP |
| 4 | g.4862721T>C | CA356138220 | MSX1 | c.490T>C (p.Cys164Arg) n.202T>C | |
| 4 | g.4862721T>G | CA356138221 | MSX1 | c.490T>G (p.Cys164Gly) n.202T>G | gnomAD v4 |
| 4 | g.4862721T= | CA1435013621 | MSX1 | c.490T= (p.Cys164=) n.202T= | |
| 4 | g.4862722G>A | CA356138222 | MSX1 | c.491G>A (p.Cys164Tyr) n.203G>A | |
| 4 | g.4862722G>C | CA356138223 | MSX1 | c.491G>C (p.Cys164Ser) n.203G>C | |
| 4 | g.4862722G>T | CA356138224 | MSX1 | c.491G>T (p.Cys164Phe) n.203G>T | gnomAD v4 |
| 4 | g.4862723C>A | CA356138225 | MSX1 | c.492C>A (p.Cys164Ter) n.204C>A | |
| 4 | g.4862723C>G | CA356138226 | MSX1 | c.492C>G (p.Cys164Trp) n.204C>G | |
| 4 | g.4862723C>T | CA438365931 | MSX1 | c.492C>T (p.Cys164=) n.204C>T | |
| 4 | g.4862724A= | CA1435013622 | MSX1 | c.493A= (p.Thr165=) n.205A= | |
| 4 | g.4862724A>C | CA356138227 | MSX1 | c.493A>C (p.Thr165Pro) n.205A>C | dbSNP |
| 4 | g.4862724A>G | CA356138228 | MSX1 | c.493A>G (p.Thr165Ala) n.205A>G | |
| 4 | g.4862724A>T | CA356138229 | MSX1 | c.493A>T (p.Thr165Ser) n.205A>T | |
| 4 | g.4862725C>A | CA356138232 | MSX1 | c.494C>A (p.Thr165Asn) n.206C>A | |
| 4 | g.4862725C>G | CA356138231 | MSX1 | c.494C>G (p.Thr165Ser) n.206C>G | |
| 4 | g.4862725C>T | CA356138230 | MSX1 | c.494C>T (p.Thr165Ile) n.206C>T | |
| 4 | g.4862726C>A | CA438365932 | MSX1 | c.495C>A (p.Thr165=) n.207C>A | |
| 4 | g.4862726C>G | CA438365934 | MSX1 | c.495C>G (p.Thr165=) n.207C>G | gnomAD v4 |
| 4 | g.4862726C>T | CA438365935 | MSX1 | c.495C>T (p.Thr165=) n.207C>T | |
| 4 | g.4862727C>A | CA356138233 | MSX1 | c.496C>A (p.Leu166Ile) n.208C>A | |
| 4 | g.4862727C>G | CA356138234 | MSX1 | c.496C>G (p.Leu166Val) n.208C>G | |
| 4 | g.4862727C>T | CA356138235 | MSX1 | c.496C>T (p.Leu166Phe) n.208C>T | gnomAD v4 |
| 4 | g.4862728T>A | CA356138236 | MSX1 | c.497T>A (p.Leu166His) n.209T>A | |
| 4 | g.4862728T>C | CA356138237 | MSX1 | c.497T>C (p.Leu166Pro) n.209T>C | dbSNP |
| 4 | g.4862728T>G | CA356138238 | MSX1 | c.497T>G (p.Leu166Arg) n.209T>G | |
| 4 | g.4862728T= | CA1435013623 | MSX1 | c.497T= (p.Leu166=) n.209T= | |
| 4 | g.4862729C>A | CA438365938 | MSX1 | c.498C>A (p.Leu166=) n.210C>A | |
| 4 | g.4862729C= | CA1435013624 | MSX1 | c.498C= (p.Leu166=) n.210C= | |
| 4 | g.4862729C>G | CA438365939 | MSX1 | c.498C>G (p.Leu166=) n.210C>G | |
| 4 | g.4862729C>T | CA438365941 | MSX1 | c.498C>T (p.Leu166=) n.210C>T | dbSNP |
| 4 | g.4862730C>A | CA356138239 | MSX1 | c.499C>A (p.Arg167Ser) n.211C>A | |
| 4 | g.4862730C= | CA1435013625 | MSX1 | c.499C= (p.Arg167=) n.211C= | |
| 4 | g.4862730C>G | CA356138240 | MSX1 | c.499C>G (p.Arg167Gly) n.211C>G | |
| 4 | g.4862730C>T | CA91671821 | MSX1 | c.499C>T (p.Arg167Cys) n.211C>T | dbSNP gnomAD v4 COSMIC |
| 4 | g.4862731G>A | CA356138241 | MSX1 | c.500G>A (p.Arg167His) n.212G>A | gnomAD v4 |
| 4 | g.4862731G>C | CA356138242 | MSX1 | c.500G>C (p.Arg167Pro) n.212G>C | COSMIC |
| 4 | g.4862731G>T | CA356138243 | MSX1 | c.500G>T (p.Arg167Leu) n.212G>T | |
| 4 | g.4862732C>A | CA438365943 | MSX1 | c.501C>A (p.Arg167=) n.213C>A | |
| 4 | g.4862732C= | CA1435013626 | MSX1 | c.501C= (p.Arg167=) n.213C= | |
| 4 | g.4862732C>G | CA2833061 | MSX1 | c.501C>G (p.Arg167=) n.213C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862732C>T | CA2833062 | MSX1 | c.501C>T (p.Arg167=) n.213C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862733A>C | CA356138246 | MSX1 | c.502A>C (p.Lys168Gln) n.214A>C | |
| 4 | g.4862733A>G | CA356138245 | MSX1 | c.502A>G (p.Lys168Glu) n.214A>G | |
| 4 | g.4862733A>T | CA356138244 | MSX1 | c.502A>T (p.Lys168Ter) n.214A>T | |
| 4 | g.4862734A>C | CA356138247 | MSX1 | c.503A>C (p.Lys168Thr) n.215A>C | |
| 4 | g.4862734A>G | CA356138248 | MSX1 | c.503A>G (p.Lys168Arg) n.215A>G | |
| 4 | g.4862734A>T | CA356138249 | MSX1 | c.503A>T (p.Lys168Ile) n.215A>T | |
| 4 | g.4862735A>C | CA356138250 | MSX1 | c.504A>C (p.Lys168Asn) n.216A>C | |
| 4 | g.4862735A>G | CA438365945 | MSX1 | c.504A>G (p.Lys168=) n.216A>G | |
| 4 | g.4862735A>T | CA356138251 | MSX1 | c.504A>T (p.Lys168Asn) n.216A>T | |
| 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 |