WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22114464C>A | CA412573309 | PHEX | c.1177C>A (p.Gln393Lys) n.854C>A c.1180C>A (p.Gln394Lys) c.424C>A (p.Gln142Lys) c.73C>A (p.Gln25Lys) c.889C>A (p.Gln297Lys) n.1859C>A | |
| X | g.22114464C= | CA2419174828 | PHEX | c.1177C= (p.Gln393=) n.854C= c.1180C= (p.Gln394=) c.424C= (p.Gln142=) c.73C= (p.Gln25=) c.889C= (p.Gln297=) n.1859C= | |
| X | g.22114464C>G | CA412573308 | PHEX | c.1177C>G (p.Gln393Glu) n.854C>G c.1180C>G (p.Gln394Glu) c.424C>G (p.Gln142Glu) c.73C>G (p.Gln25Glu) c.889C>G (p.Gln297Glu) n.1859C>G | |
| X | g.22114464C>T | CA16043225 | PHEX | c.1177C>T (p.Gln393Ter) n.854C>T c.1180C>T (p.Gln394Ter) c.424C>T (p.Gln142Ter) c.73C>T (p.Gln25Ter) c.889C>T (p.Gln297Ter) n.1859C>T | ClinVar dbSNP |
| X | g.22114465A= | CA2419174829 | PHEX | c.1178A= (p.Gln393=) n.855A= c.1181A= (p.Gln394=) c.425A= (p.Gln142=) c.74A= (p.Gln25=) c.890A= (p.Gln297=) n.1860A= | |
| X | g.22114465A>C | CA412573310 | PHEX | c.1178A>C (p.Gln393Pro) n.855A>C c.1181A>C (p.Gln394Pro) c.425A>C (p.Gln142Pro) c.74A>C (p.Gln25Pro) c.890A>C (p.Gln297Pro) n.1860A>C | |
| X | g.22114465A>G | CA412573311 | PHEX | c.1178A>G (p.Gln393Arg) n.855A>G c.1181A>G (p.Gln394Arg) c.425A>G (p.Gln142Arg) c.74A>G (p.Gln25Arg) c.890A>G (p.Gln297Arg) n.1860A>G | |
| X | g.22114465A>T | CA412573312 | PHEX | c.1178A>T (p.Gln393Leu) n.855A>T c.1181A>T (p.Gln394Leu) c.425A>T (p.Gln142Leu) c.74A>T (p.Gln25Leu) c.890A>T (p.Gln297Leu) n.1860A>T | |
| X | g.22114466G>A | CA10368199 | PHEX | c.1179G>A (p.Gln393=) n.856G>A c.1182G>A (p.Gln394=) c.426G>A (p.Gln142=) c.75G>A (p.Gln25=) c.891G>A (p.Gln297=) n.1861G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.22114466G>C | CA412573313 | PHEX | c.1179G>C (p.Gln393His) n.856G>C c.1182G>C (p.Gln394His) c.426G>C (p.Gln142His) c.75G>C (p.Gln25His) c.891G>C (p.Gln297His) n.1861G>C | |
| X | g.22114466G= | CA2419174830 | PHEX | c.1179G= (p.Gln393=) n.856G= c.1182G= (p.Gln394=) c.426G= (p.Gln142=) c.75G= (p.Gln25=) c.891G= (p.Gln297=) n.1861G= | |
| X | g.22114466G>T | CA412573314 | PHEX | c.1179G>T (p.Gln393His) n.856G>T c.1182G>T (p.Gln394His) c.426G>T (p.Gln142His) c.75G>T (p.Gln25His) c.891G>T (p.Gln297His) n.1861G>T | |
| X | g.22114468_22114469dup | CA915950852 | PHEX | c.1181_1182dup (p.Thr395GlyfsTer13) n.858_859dup c.1184_1185dup (p.Thr396GlyfsTer13) c.428_429dup (p.Thr144GlyfsTer13) c.77_78dup (p.Thr27GlyfsTer13) c.893_894dup (p.Thr299GlyfsTer13) n.1863_1864dup | ClinVar dbSNP |
| X | g.22114469del | CA2573158528 | PHEX | c.1182del (p.Thr395ProfsTer12) n.859del c.1185del (p.Thr396ProfsTer12) c.429del (p.Thr144ProfsTer12) c.78del (p.Thr27ProfsTer12) c.894del (p.Thr299ProfsTer12) n.1864del | ClinVar dbSNP |
| X | g.22114467G>A | CA412573315 | PHEX | c.1180G>A (p.Gly394Arg) n.857G>A c.1183G>A (p.Gly395Arg) c.427G>A (p.Gly143Arg) c.76G>A (p.Gly26Arg) c.892G>A (p.Gly298Arg) n.1862G>A | |
| X | g.22114467G>C | CA412573316 | PHEX | c.1180G>C (p.Gly394Arg) n.857G>C c.1183G>C (p.Gly395Arg) c.427G>C (p.Gly143Arg) c.76G>C (p.Gly26Arg) c.892G>C (p.Gly298Arg) n.1862G>C | |
| X | g.22114467G>T | CA412573317 | PHEX | c.1180G>T (p.Gly394Trp) n.857G>T c.1183G>T (p.Gly395Trp) c.427G>T (p.Gly143Trp) c.76G>T (p.Gly26Trp) c.892G>T (p.Gly298Trp) n.1862G>T | |
| X | g.22114468G>A | CA412573318 | PHEX | c.1181G>A (p.Gly394Glu) n.858G>A c.1184G>A (p.Gly395Glu) c.428G>A (p.Gly143Glu) c.77G>A (p.Gly26Glu) c.893G>A (p.Gly298Glu) n.1863G>A | gnomAD v4 |
| X | g.22114468G>C | CA412573319 | PHEX | c.1181G>C (p.Gly394Ala) n.858G>C c.1184G>C (p.Gly395Ala) c.428G>C (p.Gly143Ala) c.77G>C (p.Gly26Ala) c.893G>C (p.Gly298Ala) n.1863G>C | |
| X | g.22114468G>T | CA412573320 | PHEX | c.1181G>T (p.Gly394Val) n.858G>T c.1184G>T (p.Gly395Val) c.428G>T (p.Gly143Val) c.77G>T (p.Gly26Val) c.893G>T (p.Gly298Val) n.1863G>T | |
| X | g.22114469G>A | CA515424605 | PHEX | c.1182G>A (p.Gly394=) n.859G>A c.1185G>A (p.Gly395=) c.429G>A (p.Gly143=) c.78G>A (p.Gly26=) c.894G>A (p.Gly298=) n.1864G>A | |
| X | g.22114469G>C | CA10368200 | PHEX | c.1182G>C (p.Gly394=) n.859G>C c.1185G>C (p.Gly395=) c.429G>C (p.Gly143=) c.78G>C (p.Gly26=) c.894G>C (p.Gly298=) n.1864G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22114469G= | CA2419174831 | PHEX | c.1182G= (p.Gly394=) n.859G= c.1185G= (p.Gly395=) c.429G= (p.Gly143=) c.78G= (p.Gly26=) c.894G= (p.Gly298=) n.1864G= | |
| X | g.22114469G>T | CA515424607 | PHEX | c.1182G>T (p.Gly394=) n.859G>T c.1185G>T (p.Gly395=) c.429G>T (p.Gly143=) c.78G>T (p.Gly26=) c.894G>T (p.Gly298=) n.1864G>T | |
| X | g.22114470A= | CA2419174832 | PHEX | c.1183A= (p.Thr395=) n.860A= c.1186A= (p.Thr396=) c.430A= (p.Thr144=) c.79A= (p.Thr27=) c.895A= (p.Thr299=) n.1865A= | |
| X | g.22114470A>C | CA412573323 | PHEX | c.1183A>C (p.Thr395Pro) n.860A>C c.1186A>C (p.Thr396Pro) c.430A>C (p.Thr144Pro) c.79A>C (p.Thr27Pro) c.895A>C (p.Thr299Pro) n.1865A>C | |
| X | g.22114470A>G | CA412573321 | PHEX | c.1183A>G (p.Thr395Ala) n.860A>G c.1186A>G (p.Thr396Ala) c.430A>G (p.Thr144Ala) c.79A>G (p.Thr27Ala) c.895A>G (p.Thr299Ala) n.1865A>G | dbSNP |
| X | g.22114470A>T | CA412573322 | PHEX | c.1183A>T (p.Thr395Ser) n.860A>T c.1186A>T (p.Thr396Ser) c.430A>T (p.Thr144Ser) c.79A>T (p.Thr27Ser) c.895A>T (p.Thr299Ser) n.1865A>T | |
| X | g.22114471C>A | CA412573324 | PHEX | c.1184C>A (p.Thr395Asn) n.861C>A c.1187C>A (p.Thr396Asn) c.431C>A (p.Thr144Asn) c.80C>A (p.Thr27Asn) c.896C>A (p.Thr299Asn) n.1866C>A | |
| X | g.22114471C>G | CA412573325 | PHEX | c.1184C>G (p.Thr395Ser) n.861C>G c.1187C>G (p.Thr396Ser) c.431C>G (p.Thr144Ser) c.80C>G (p.Thr27Ser) c.896C>G (p.Thr299Ser) n.1866C>G | |
| X | g.22114471C>T | CA412573326 | PHEX | c.1184C>T (p.Thr395Ile) n.861C>T c.1187C>T (p.Thr396Ile) c.431C>T (p.Thr144Ile) c.80C>T (p.Thr27Ile) c.896C>T (p.Thr299Ile) n.1866C>T | COSMIC COSMIC |
| X | g.22114472C>A | CA515424612 | PHEX | c.1185C>A (p.Thr395=) n.862C>A c.1188C>A (p.Thr396=) c.432C>A (p.Thr144=) c.81C>A (p.Thr27=) c.897C>A (p.Thr299=) n.1867C>A | gnomAD v4 |
| X | g.22114472C= | CA2419174833 | PHEX | c.1185C= (p.Thr395=) n.862C= c.1188C= (p.Thr396=) c.432C= (p.Thr144=) c.81C= (p.Thr27=) c.897C= (p.Thr299=) n.1867C= | |
| X | g.22114472C>G | CA515424614 | PHEX | c.1185C>G (p.Thr395=) n.862C>G c.1188C>G (p.Thr396=) c.432C>G (p.Thr144=) c.81C>G (p.Thr27=) c.897C>G (p.Thr299=) n.1867C>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.22114472C>T | CA515424616 | PHEX | c.1185C>T (p.Thr395=) n.862C>T c.1188C>T (p.Thr396=) c.432C>T (p.Thr144=) c.81C>T (p.Thr27=) c.897C>T (p.Thr299=) n.1867C>T | |
| X | g.22114473A>C | CA412573327 | PHEX | c.1186A>C (p.Thr396Pro) n.863A>C c.1189A>C (p.Thr397Pro) c.433A>C (p.Thr145Pro) c.82A>C (p.Thr28Pro) c.898A>C (p.Thr300Pro) n.1868A>C | |
| X | g.22114473A>G | CA412573328 | PHEX | c.1186A>G (p.Thr396Ala) n.863A>G c.1189A>G (p.Thr397Ala) c.433A>G (p.Thr145Ala) c.82A>G (p.Thr28Ala) c.898A>G (p.Thr300Ala) n.1868A>G | |
| X | g.22114473A>T | CA412573329 | PHEX | c.1186A>T (p.Thr396Ser) n.863A>T c.1189A>T (p.Thr397Ser) c.433A>T (p.Thr145Ser) c.82A>T (p.Thr28Ser) c.898A>T (p.Thr300Ser) n.1868A>T | |
| X | g.22114474C>A | CA412573330 | PHEX | c.1187C>A (p.Thr396Lys) n.864C>A c.1190C>A (p.Thr397Lys) c.434C>A (p.Thr145Lys) c.83C>A (p.Thr28Lys) c.899C>A (p.Thr300Lys) n.1869C>A | gnomAD v4 |
| X | g.22114474C>G | CA412573331 | PHEX | c.1187C>G (p.Thr396Arg) n.864C>G c.1190C>G (p.Thr397Arg) c.434C>G (p.Thr145Arg) c.83C>G (p.Thr28Arg) c.899C>G (p.Thr300Arg) n.1869C>G | |
| X | g.22114474C>T | CA412573332 | PHEX | c.1187C>T (p.Thr396Ile) n.864C>T c.1190C>T (p.Thr397Ile) c.434C>T (p.Thr145Ile) c.83C>T (p.Thr28Ile) c.899C>T (p.Thr300Ile) n.1869C>T | |
| X | g.22114475A>C | CA515424623 | PHEX | c.1188A>C (p.Thr396=) n.865A>C c.1191A>C (p.Thr397=) c.435A>C (p.Thr145=) c.84A>C (p.Thr28=) c.900A>C (p.Thr300=) n.1870A>C | |
| X | g.22114475A>G | CA515424624 | PHEX | c.1188A>G (p.Thr396=) n.865A>G c.1191A>G (p.Thr397=) c.435A>G (p.Thr145=) c.84A>G (p.Thr28=) c.900A>G (p.Thr300=) n.1870A>G | |
| X | g.22114475A>T | CA515424626 | PHEX | c.1188A>T (p.Thr396=) n.865A>T c.1191A>T (p.Thr397=) c.435A>T (p.Thr145=) c.84A>T (p.Thr28=) c.900A>T (p.Thr300=) n.1870A>T | |
| X | g.22114476A= | CA2419174834 | PHEX | c.1189A= (p.Thr397=) n.866A= c.1192A= (p.Thr398=) c.436A= (p.Thr146=) c.85A= (p.Thr29=) c.901A= (p.Thr301=) n.1871A= | |
| X | g.22114476A>C | CA412573333 | PHEX | c.1189A>C (p.Thr397Pro) n.866A>C c.1192A>C (p.Thr398Pro) c.436A>C (p.Thr146Pro) c.85A>C (p.Thr29Pro) c.901A>C (p.Thr301Pro) n.1871A>C | dbSNP |
| X | g.22114476A>G | CA412573334 | PHEX | c.1189A>G (p.Thr397Ala) n.866A>G c.1192A>G (p.Thr398Ala) c.436A>G (p.Thr146Ala) c.85A>G (p.Thr29Ala) c.901A>G (p.Thr301Ala) n.1871A>G | |
| X | g.22114476A>T | CA412573335 | PHEX | c.1189A>T (p.Thr397Ser) n.866A>T c.1192A>T (p.Thr398Ser) c.436A>T (p.Thr146Ser) c.85A>T (p.Thr29Ser) c.901A>T (p.Thr301Ser) n.1871A>T | gnomAD v4 |
| X | g.22114477C>A | CA412573337 | PHEX | c.1190C>A (p.Thr397Asn) n.867C>A c.1193C>A (p.Thr398Asn) c.437C>A (p.Thr146Asn) c.86C>A (p.Thr29Asn) c.902C>A (p.Thr301Asn) n.1872C>A | |
| X | g.22114477C>G | CA412573338 | PHEX | c.1190C>G (p.Thr397Ser) n.867C>G c.1193C>G (p.Thr398Ser) c.437C>G (p.Thr146Ser) c.86C>G (p.Thr29Ser) c.902C>G (p.Thr301Ser) n.1872C>G | gnomAD v4 |