OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.44264906G>A | CA380180945 | ALX4 | c.1184C>T (p.Ala395Val) c.662C>T (p.Ala221Val) | gnomAD v4 |
| 11 | g.44264906G>C | CA380180943 | ALX4 | c.1184C>G (p.Ala395Gly) c.662C>G (p.Ala221Gly) | gnomAD v4 |
| 11 | g.44264906G>T | CA380180944 | ALX4 | c.1184C>A (p.Ala395Asp) c.662C>A (p.Ala221Asp) | |
| 11 | g.44264907C>A | CA380180946 | ALX4 | c.1183G>T (p.Ala395Ser) c.661G>T (p.Ala221Ser) | |
| 11 | g.44264907C= | CA1967914389 | ALX4 | c.1183G= (p.Ala395=) c.661G= (p.Ala221=) | |
| 11 | g.44264907C>G | CA380180947 | ALX4 | c.1183G>C (p.Ala395Pro) c.661G>C (p.Ala221Pro) | |
| 11 | g.44264907C>T | CA380180948 | ALX4 | c.1183G>A (p.Ala395Thr) c.661G>A (p.Ala221Thr) | dbSNP gnomAD v4 |
| 11 | g.44264908C>A | CA474035118 | ALX4 | c.1182G>T (p.Ala394=) c.660G>T (p.Ala220=) | |
| 11 | g.44264908C= | CA1967914396 | ALX4 | c.1182G= (p.Ala394=) c.660G= (p.Ala220=) | |
| 11 | g.44264908C>G | CA474035119 | ALX4 | c.1182G>C (p.Ala394=) c.660G>C (p.Ala220=) | |
| 11 | g.44264908C>T | CA5955501 | ALX4 | c.1182G>A (p.Ala394=) c.660G>A (p.Ala220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.44264909G>A | CA5955502 | ALX4 | c.1181C>T (p.Ala394Val) c.659C>T (p.Ala220Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264909G>C | CA380180950 | ALX4 | c.1181C>G (p.Ala394Gly) c.659C>G (p.Ala220Gly) | |
| 11 | g.44264909G= | CA1967914407 | ALX4 | c.1181C= (p.Ala394=) c.659C= (p.Ala220=) | |
| 11 | g.44264909G>T | CA380180952 | ALX4 | c.1181C>A (p.Ala394Glu) c.659C>A (p.Ala220Glu) | gnomAD v4 |
| 11 | g.44264910C>A | CA380180955 | ALX4 | c.1180G>T (p.Ala394Ser) c.658G>T (p.Ala220Ser) | dbSNP gnomAD v4 |
| 11 | g.44264910C= | CA1967914411 | ALX4 | c.1180G= (p.Ala394=) c.658G= (p.Ala220=) | |
| 11 | g.44264910C>G | CA380180957 | ALX4 | c.1180G>C (p.Ala394Pro) c.658G>C (p.Ala220Pro) | |
| 11 | g.44264910C>T | CA5955503 | ALX4 | c.1180G>A (p.Ala394Thr) c.658G>A (p.Ala220Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264911G>A | CA5955504 | ALX4 | c.1179C>T (p.Ile393=) c.657C>T (p.Ile219=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264911G>C | CA380180961 | ALX4 | c.1179C>G (p.Ile393Met) c.657C>G (p.Ile219Met) | |
| 11 | g.44264911G= | CA1967914414 | ALX4 | c.1179C= (p.Ile393=) c.657C= (p.Ile219=) | |
| 11 | g.44264911G>T | CA474035120 | ALX4 | c.1179C>A (p.Ile393=) c.657C>A (p.Ile219=) | |
| 11 | g.44264912A= | CA1967914423 | ALX4 | c.1178T= (p.Ile393=) c.656T= (p.Ile219=) | |
| 11 | g.44264912A>C | CA380180963 | ALX4 | c.1178T>G (p.Ile393Ser) c.656T>G (p.Ile219Ser) | |
| 11 | g.44264912A>G | CA380180966 | ALX4 | c.1178T>C (p.Ile393Thr) c.656T>C (p.Ile219Thr) | |
| 11 | g.44264912A>T | CA5955505 | ALX4 | c.1178T>A (p.Ile393Asn) c.656T>A (p.Ile219Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264913T>A | CA380180968 | ALX4 | c.1177A>T (p.Ile393Phe) c.655A>T (p.Ile219Phe) | |
| 11 | g.44264913T>C | CA380180969 | ALX4 | c.1177A>G (p.Ile393Val) c.655A>G (p.Ile219Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264913T>G | CA380180971 | ALX4 | c.1177A>C (p.Ile393Leu) c.655A>C (p.Ile219Leu) | dbSNP |
| 11 | g.44264913T= | CA1967914427 | ALX4 | c.1177A= (p.Ile393=) c.655A= (p.Ile219=) | |
| 11 | g.44264914G>A | CA474035121 | ALX4 | c.1176C>T (p.Ser392=) c.654C>T (p.Ser218=) | |
| 11 | g.44264914G>C | CA380180973 | ALX4 | c.1176C>G (p.Ser392Arg) c.654C>G (p.Ser218Arg) | |
| 11 | g.44264914G>T | CA380180975 | ALX4 | c.1176C>A (p.Ser392Arg) c.654C>A (p.Ser218Arg) | |
| 11 | g.44264915C>A | CA380180977 | ALX4 | c.1175G>T (p.Ser392Ile) c.653G>T (p.Ser218Ile) | |
| 11 | g.44264915C>G | CA380180979 | ALX4 | c.1175G>C (p.Ser392Thr) c.653G>C (p.Ser218Thr) | gnomAD v4 |
| 11 | g.44264915C>T | CA380180981 | ALX4 | c.1175G>A (p.Ser392Asn) c.653G>A (p.Ser218Asn) | gnomAD v4 |
| 11 | g.44264916T>A | CA380180982 | ALX4 | c.1174A>T (p.Ser392Cys) c.652A>T (p.Ser218Cys) | |
| 11 | g.44264916T>C | CA380180984 | ALX4 | c.1174A>G (p.Ser392Gly) c.652A>G (p.Ser218Gly) | gnomAD v4 |
| 11 | g.44264916T>G | CA380180986 | ALX4 | c.1174A>C (p.Ser392Arg) c.652A>C (p.Ser218Arg) | |
| 11 | g.44264917C>A | CA474035122 | ALX4 | c.1173G>T (p.Ser391=) c.651G>T (p.Ser217=) | |
| 11 | g.44264917C= | CA1967914430 | ALX4 | c.1173G= (p.Ser391=) c.651G= (p.Ser217=) | |
| 11 | g.44264917C>G | CA474035123 | ALX4 | c.1173G>C (p.Ser391=) c.651G>C (p.Ser217=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44264917C>T | CA5955506 | ALX4 | c.1173G>A (p.Ser391=) c.651G>A (p.Ser217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264917_44264920dup | CA2574804021 | ALX4 | c.1170_1173dup (p.Ser392LeufsTer?) c.648_651dup (p.Ser218LeufsTer?) | |
| 11 | g.44264918G>A | CA380180993 | ALX4 | c.1172C>T (p.Ser391Leu) c.650C>T (p.Ser217Leu) | gnomAD v4 |
| 11 | g.44264918G>C | CA380180990 | ALX4 | c.1172C>G (p.Ser391Trp) c.650C>G (p.Ser217Trp) | |
| 11 | g.44264918G>T | CA380180991 | ALX4 | c.1172C>A (p.Ser391Ter) c.650C>A (p.Ser217Ter) | |
| 11 | g.44264919A>C | CA380180996 | ALX4 | c.1171T>G (p.Ser391Ala) c.649T>G (p.Ser217Ala) | gnomAD v4 |
| 11 | g.44264919A>G | CA380180997 | ALX4 | c.1171T>C (p.Ser391Pro) c.649T>C (p.Ser217Pro) | |
| 11 | g.44264919A>T | CA380180999 | ALX4 | c.1171T>A (p.Ser391Thr) c.649T>A (p.Ser217Thr) | |
| 11 | g.44264920G>A | CA474035124 | ALX4 | c.1170C>T (p.Thr390=) c.648C>T (p.Thr216=) | gnomAD v4 |
| 11 | g.44264920G>C | CA474035125 | ALX4 | c.1170C>G (p.Thr390=) c.648C>G (p.Thr216=) | |
| 11 | g.44264920G>T | CA474035126 | ALX4 | c.1170C>A (p.Thr390=) c.648C>A (p.Thr216=) | |
| 11 | g.44264921G>A | CA380181001 | ALX4 | c.1169C>T (p.Thr390Ile) c.647C>T (p.Thr216Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264921G>C | CA380181002 | ALX4 | c.1169C>G (p.Thr390Ser) c.647C>G (p.Thr216Ser) | |
| 11 | g.44264921G= | CA1967914434 | ALX4 | c.1169C= (p.Thr390=) c.647C= (p.Thr216=) | |
| 11 | g.44264921G>T | CA380181004 | ALX4 | c.1169C>A (p.Thr390Asn) c.647C>A (p.Thr216Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264922T>A | CA380181007 | ALX4 | c.1168A>T (p.Thr390Ser) c.646A>T (p.Thr216Ser) | |
| 11 | g.44264922T>C | CA380181008 | ALX4 | c.1168A>G (p.Thr390Ala) c.646A>G (p.Thr216Ala) | |
| 11 | g.44264922T>G | CA380181010 | ALX4 | c.1168A>C (p.Thr390Pro) c.646A>C (p.Thr216Pro) | |
| 11 | g.44264923C>A | CA380181013 | ALX4 | c.1167G>T (p.Lys389Asn) c.645G>T (p.Lys215Asn) | |
| 11 | g.44264923C>G | CA380181015 | ALX4 | c.1167G>C (p.Lys389Asn) c.645G>C (p.Lys215Asn) | |
| 11 | g.44264923C>T | CA474035127 | ALX4 | c.1167G>A (p.Lys389=) c.645G>A (p.Lys215=) | |
| 11 | g.44264924T>A | CA380181020 | ALX4 | c.1166A>T (p.Lys389Met) c.644A>T (p.Lys215Met) | |
| 11 | g.44264924T>C | CA380181017 | ALX4 | c.1166A>G (p.Lys389Arg) c.644A>G (p.Lys215Arg) | |
| 11 | g.44264924T>G | CA380181019 | ALX4 | c.1166A>C (p.Lys389Thr) c.644A>C (p.Lys215Thr) | |
| 11 | g.44264925T>A | CA380181023 | ALX4 | c.1165A>T (p.Lys389Ter) c.643A>T (p.Lys215Ter) | |
| 11 | g.44264925T>C | CA380181025 | ALX4 | c.1165A>G (p.Lys389Glu) c.643A>G (p.Lys215Glu) | |
| 11 | g.44264925T>G | CA380181027 | ALX4 | c.1165A>C (p.Lys389Gln) c.643A>C (p.Lys215Gln) | |
| 11 | g.44264926G>A | CA474035128 | ALX4 | c.1164C>T (p.Arg388=) c.642C>T (p.Arg214=) | |
| 11 | g.44264926G>C | CA474035129 | ALX4 | c.1164C>G (p.Arg388=) c.642C>G (p.Arg214=) | gnomAD v4 |
| 11 | g.44264926G>T | CA474035130 | ALX4 | c.1164C>A (p.Arg388=) c.642C>A (p.Arg214=) | |
| 11 | g.44264927C>A | CA380181029 | ALX4 | c.1163G>T (p.Arg388Leu) c.641G>T (p.Arg214Leu) | |
| 11 | g.44264927C= | CA1967914441 | ALX4 | c.1163G= (p.Arg388=) c.641G= (p.Arg214=) | |
| 11 | g.44264927C>G | CA380181030 | ALX4 | c.1163G>C (p.Arg388Pro) c.641G>C (p.Arg214Pro) | |
| 11 | g.44264927C>T | CA5955507 | ALX4 | c.1163G>A (p.Arg388His) c.641G>A (p.Arg214His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264928G>A | CA5955508 | ALX4 | c.1162C>T (p.Arg388Cys) c.640C>T (p.Arg214Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264928G>C | CA380181035 | ALX4 | c.1162C>G (p.Arg388Gly) c.640C>G (p.Arg214Gly) | |
| 11 | g.44264928G= | CA1967914444 | ALX4 | c.1162C= (p.Arg388=) c.640C= (p.Arg214=) | |
| 11 | g.44264928G>T | CA380181037 | ALX4 | c.1162C>A (p.Arg388Ser) c.640C>A (p.Arg214Ser) | |
| 11 | g.44264929G>A | CA474035131 | ALX4 | c.1161C>T (p.Asp387=) c.639C>T (p.Asp213=) | |
| 11 | g.44264929G>C | CA380181039 | ALX4 | c.1161C>G (p.Asp387Glu) c.639C>G (p.Asp213Glu) | |
| 11 | g.44264929G>T | CA380181041 | ALX4 | c.1161C>A (p.Asp387Glu) c.639C>A (p.Asp213Glu) | |
| 11 | g.44264930T>A | CA380181046 | ALX4 | c.1160A>T (p.Asp387Val) c.638A>T (p.Asp213Val) | |
| 11 | g.44264930T>C | CA221487302 | ALX4 | c.1160A>G (p.Asp387Gly) c.638A>G (p.Asp213Gly) | dbSNP |
| 11 | g.44264930T>G | CA380181043 | ALX4 | c.1160A>C (p.Asp387Ala) c.638A>C (p.Asp213Ala) | |
| 11 | g.44264930T= | CA1967914448 | ALX4 | c.1160A= (p.Asp387=) c.638A= (p.Asp213=) | |
| 11 | g.44264931C>A | CA380181049 | ALX4 | c.1159G>T (p.Asp387Tyr) c.637G>T (p.Asp213Tyr) | gnomAD v4 |
| 11 | g.44264931C= | CA1967914452 | ALX4 | c.1159G= (p.Asp387=) c.637G= (p.Asp213=) | |
| 11 | g.44264931C>G | CA380181051 | ALX4 | c.1159G>C (p.Asp387His) c.637G>C (p.Asp213His) | |
| 11 | g.44264931C>T | CA380181053 | ALX4 | c.1159G>A (p.Asp387Asn) c.637G>A (p.Asp213Asn) | dbSNP gnomAD v4 |
| 11 | g.44264932C>A | CA5955510 | ALX4 | c.1158G>T (p.Pro386=) c.636G>T (p.Pro212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264932C= | CA1967914456 | ALX4 | c.1158G= (p.Pro386=) c.636G= (p.Pro212=) | |
| 11 | g.44264932C>G | CA474035132 | ALX4 | c.1158G>C (p.Pro386=) c.636G>C (p.Pro212=) | |
| 11 | g.44264932C>T | CA5955509 | ALX4 | c.1158G>A (p.Pro386=) c.636G>A (p.Pro212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.44264933G>A | CA221487344 | ALX4 | c.1157C>T (p.Pro386Leu) c.635C>T (p.Pro212Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264933G>C | CA380181057 | ALX4 | c.1157C>G (p.Pro386Arg) c.635C>G (p.Pro212Arg) | |
| 11 | g.44264933G= | CA1967914462 | ALX4 | c.1157C= (p.Pro386=) c.635C= (p.Pro212=) | |
| 11 | g.44264933G>T | CA380181059 | ALX4 | c.1157C>A (p.Pro386Gln) c.635C>A (p.Pro212Gln) | |
| 11 | g.44264934G>A | CA380181061 | ALX4 | c.1156C>T (p.Pro386Ser) c.634C>T (p.Pro212Ser) | dbSNP |
| 11 | g.44264934G>C | CA5955511 | ALX4 | c.1156C>G (p.Pro386Ala) c.634C>G (p.Pro212Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44264934G= | CA1967914469 | ALX4 | c.1156C= (p.Pro386=) c.634C= (p.Pro212=) | |
| 11 | g.44264934G>T | CA380181064 | ALX4 | c.1156C>A (p.Pro386Thr) c.634C>A (p.Pro212Thr) | dbSNP |
| 11 | g.44264935C>A | CA380181067 | ALX4 | c.1155G>T (p.Glu385Asp) c.633G>T (p.Glu211Asp) | |
| 11 | g.44264935C>G | CA380181068 | ALX4 | c.1155G>C (p.Glu385Asp) c.633G>C (p.Glu211Asp) | |
| 11 | g.44264935C>T | CA474035133 | ALX4 | c.1155G>A (p.Glu385=) c.633G>A (p.Glu211=) | |
| 11 | g.44264936T>A | CA380181071 | ALX4 | c.1154A>T (p.Glu385Val) c.632A>T (p.Glu211Val) | gnomAD v4 |
| 11 | g.44264936T>C | CA380181073 | ALX4 | c.1154A>G (p.Glu385Gly) c.632A>G (p.Glu211Gly) | |
| 11 | g.44264936T>G | CA380181074 | ALX4 | c.1154A>C (p.Glu385Ala) c.632A>C (p.Glu211Ala) | |
| 11 | g.44264937C>A | CA380181078 | ALX4 | c.1153G>T (p.Glu385Ter) c.631G>T (p.Glu211Ter) | |
| 11 | g.44264937C= | CA1967914475 | ALX4 | c.1153G= (p.Glu385=) c.631G= (p.Glu211=) | |
| 11 | g.44264937C>G | CA5955512 | ALX4 | c.1153G>C (p.Glu385Gln) c.631G>C (p.Glu211Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264937C>T | CA5955513 | ALX4 | c.1153G>A (p.Glu385Lys) c.631G>A (p.Glu211Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44264938G>A | CA5955514 | ALX4 | c.1152C>T (p.Gly384=) c.630C>T (p.Gly210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264938G>C | CA474035157 | ALX4 | c.1152C>G (p.Gly384=) c.630C>G (p.Gly210=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264938G= | CA1967914476 | ALX4 | c.1152C= (p.Gly384=) c.630C= (p.Gly210=) | |
| 11 | g.44264938G>T | CA474035159 | ALX4 | c.1152C>A (p.Gly384=) c.630C>A (p.Gly210=) | gnomAD v4 |
| 11 | g.44264939C>A | CA380181083 | ALX4 | c.1151G>T (p.Gly384Val) c.629G>T (p.Gly210Val) | gnomAD v4 |
| 11 | g.44264939C>G | CA380181085 | ALX4 | c.1151G>C (p.Gly384Ala) c.629G>C (p.Gly210Ala) | |
| 11 | g.44264939C>T | CA380181086 | ALX4 | c.1151G>A (p.Gly384Asp) c.629G>A (p.Gly210Asp) | |
| 11 | g.44264940C>A | CA380181089 | ALX4 | c.1150G>T (p.Gly384Cys) c.628G>T (p.Gly210Cys) | |
| 11 | g.44264940C= | CA1967914480 | ALX4 | c.1150G= (p.Gly384=) c.628G= (p.Gly210=) | |
| 11 | g.44264940C>G | CA380181091 | ALX4 | c.1150G>C (p.Gly384Arg) c.628G>C (p.Gly210Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264940C>T | CA5955515 | ALX4 | c.1150G>A (p.Gly384Ser) c.628G>A (p.Gly210Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.44264941G>A | CA5955516 | ALX4 | c.1149C>T (p.Asn383=) c.627C>T (p.Asn209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264941G>C | CA380181095 | ALX4 | c.1149C>G (p.Asn383Lys) c.627C>G (p.Asn209Lys) | |
| 11 | g.44264941G= | CA1967914485 | ALX4 | c.1149C= (p.Asn383=) c.627C= (p.Asn209=) | |
| 11 | g.44264941G>T | CA380181097 | ALX4 | c.1149C>A (p.Asn383Lys) c.627C>A (p.Asn209Lys) | gnomAD v4 |
| 11 | g.44264942T>A | CA380181098 | ALX4 | c.1148A>T (p.Asn383Ile) c.626A>T (p.Asn209Ile) | |
| 11 | g.44264942T>C | CA380181100 | ALX4 | c.1148A>G (p.Asn383Ser) c.626A>G (p.Asn209Ser) | |
| 11 | g.44264942T>G | CA380181102 | ALX4 | c.1148A>C (p.Asn383Thr) c.626A>C (p.Asn209Thr) | |
| 11 | g.44264943T>A | CA380181104 | ALX4 | c.1147A>T (p.Asn383Tyr) c.625A>T (p.Asn209Tyr) | |
| 11 | g.44264943T>C | CA380181107 | ALX4 | c.1147A>G (p.Asn383Asp) c.625A>G (p.Asn209Asp) | |
| 11 | g.44264943T>G | CA380181106 | ALX4 | c.1147A>C (p.Asn383His) c.625A>C (p.Asn209His) | |
| 11 | g.44264944G>A | CA221487416 | ALX4 | c.1146C>T (p.Leu382=) c.624C>T (p.Leu208=) | dbSNP |
| 11 | g.44264944G>C | CA474035161 | ALX4 | c.1146C>G (p.Leu382=) c.624C>G (p.Leu208=) | |
| 11 | g.44264944G= | CA1967914488 | ALX4 | c.1146C= (p.Leu382=) c.624C= (p.Leu208=) | |
| 11 | g.44264944G>T | CA474035163 | ALX4 | c.1146C>A (p.Leu382=) c.624C>A (p.Leu208=) | gnomAD v4 |
| 11 | g.44264945A>C | CA380181111 | ALX4 | c.1145T>G (p.Leu382Arg) c.623T>G (p.Leu208Arg) | |
| 11 | g.44264945A>G | CA380181113 | ALX4 | c.1145T>C (p.Leu382Pro) c.623T>C (p.Leu208Pro) | |
| 11 | g.44264945A>T | CA380181115 | ALX4 | c.1145T>A (p.Leu382His) c.623T>A (p.Leu208His) | |
| 11 | g.44264946G>A | CA380181117 | ALX4 | c.1144C>T (p.Leu382Phe) c.622C>T (p.Leu208Phe) | gnomAD v4 |
| 11 | g.44264946G>C | CA380181119 | ALX4 | c.1144C>G (p.Leu382Val) c.622C>G (p.Leu208Val) | |
| 11 | g.44264946G>T | CA380181121 | ALX4 | c.1144C>A (p.Leu382Ile) c.622C>A (p.Leu208Ile) | |
| 11 | g.44264947C>A | CA380181123 | ALX4 | c.1143G>T (p.Glu381Asp) c.621G>T (p.Glu207Asp) | |
| 11 | g.44264947C= | CA1967914494 | ALX4 | c.1143G= (p.Glu381=) c.621G= (p.Glu207=) | |
| 11 | g.44264947C>G | CA380181125 | ALX4 | c.1143G>C (p.Glu381Asp) c.621G>C (p.Glu207Asp) | |
| 11 | g.44264947C>T | CA5955517 | ALX4 | c.1143G>A (p.Glu381=) c.621G>A (p.Glu207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44264948T>A | CA380181128 | ALX4 | c.1142A>T (p.Glu381Val) c.620A>T (p.Glu207Val) | |
| 11 | g.44264948T>C | CA5955518 | ALX4 | c.1142A>G (p.Glu381Gly) c.620A>G (p.Glu207Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44264948T>G | CA380181131 | ALX4 | c.1142A>C (p.Glu381Ala) c.620A>C (p.Glu207Ala) | gnomAD v4 |
| 11 | g.44264948T= | CA1967914498 | ALX4 | c.1142A= (p.Glu381=) c.620A= (p.Glu207=) | |
| 11 | g.44264949C>A | CA380181136 | ALX4 | c.1141G>T (p.Glu381Ter) c.619G>T (p.Glu207Ter) | |
| 11 | g.44264949C= | CA1967914501 | ALX4 | c.1141G= (p.Glu381=) c.619G= (p.Glu207=) | |
| 11 | g.44264949C>G | CA5955519 | ALX4 | c.1141G>C (p.Glu381Gln) c.619G>C (p.Glu207Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44264949C>T | CA380181134 | ALX4 | c.1141G>A (p.Glu381Lys) c.619G>A (p.Glu207Lys) | dbSNP gnomAD v4 COSMIC |
| 11 | g.44264950G>A | CA5955520 | ALX4 | c.1140C>T (p.Tyr380=) c.618C>T (p.Tyr206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264950G>C | CA380181139 | ALX4 | c.1140C>G (p.Tyr380Ter) c.618C>G (p.Tyr206Ter) | |
| 11 | g.44264950G= | CA1967914506 | ALX4 | c.1140C= (p.Tyr380=) c.618C= (p.Tyr206=) | |
| 11 | g.44264950G>T | CA380181141 | ALX4 | c.1140C>A (p.Tyr380Ter) c.618C>A (p.Tyr206Ter) | |
| 11 | g.44264951T>A | CA380181142 | ALX4 | c.1139A>T (p.Tyr380Phe) c.617A>T (p.Tyr206Phe) | |
| 11 | g.44264951T>C | CA380181143 | ALX4 | c.1139A>G (p.Tyr380Cys) c.617A>G (p.Tyr206Cys) | gnomAD v4 |
| 11 | g.44264951T>G | CA380181145 | ALX4 | c.1139A>C (p.Tyr380Ser) c.617A>C (p.Tyr206Ser) | |
| 11 | g.44264952A>C | CA380181148 | ALX4 | c.1138T>G (p.Tyr380Asp) c.616T>G (p.Tyr206Asp) | |
| 11 | g.44264952A>G | CA380181149 | ALX4 | c.1138T>C (p.Tyr380His) c.616T>C (p.Tyr206His) | gnomAD v4 |
| 11 | g.44264952A>T | CA380181151 | ALX4 | c.1138T>A (p.Tyr380Asn) c.616T>A (p.Tyr206Asn) | |
| 11 | g.44264953G>A | CA474035170 | ALX4 | c.1137C>T (p.Gly379=) c.615C>T (p.Gly205=) | |
| 11 | g.44264953G>C | CA474035168 | ALX4 | c.1137C>G (p.Gly379=) c.615C>G (p.Gly205=) | |
| 11 | g.44264953G>T | CA474035167 | ALX4 | c.1137C>A (p.Gly379=) c.615C>A (p.Gly205=) | |
| 11 | g.44264954C>A | CA380181154 | ALX4 | c.1136G>T (p.Gly379Val) c.614G>T (p.Gly205Val) | |
| 11 | g.44264954C>G | CA380181155 | ALX4 | c.1136G>C (p.Gly379Ala) c.614G>C (p.Gly205Ala) | gnomAD v4 |
| 11 | g.44264954C>T | CA380181157 | ALX4 | c.1136G>A (p.Gly379Asp) c.614G>A (p.Gly205Asp) | |
| 11 | g.44264955C>A | CA380181159 | ALX4 | c.1135G>T (p.Gly379Cys) c.613G>T (p.Gly205Cys) | |
| 11 | g.44264955C>G | CA380181163 | ALX4 | c.1135G>C (p.Gly379Arg) c.613G>C (p.Gly205Arg) | |
| 11 | g.44264955C>T | CA380181161 | ALX4 | c.1135G>A (p.Gly379Ser) c.613G>A (p.Gly205Ser) | |
| 11 | g.44264956A>C | CA380181165 | ALX4 | c.1134T>G (p.Asn378Lys) c.612T>G (p.Asn204Lys) | |
| 11 | g.44264956A>G | CA474035173 | ALX4 | c.1134T>C (p.Asn378=) c.612T>C (p.Asn204=) | |
| 11 | g.44264956A>T | CA380181166 | ALX4 | c.1134T>A (p.Asn378Lys) c.612T>A (p.Asn204Lys) | gnomAD v4 |
| 11 | g.44264957T>A | CA380181169 | ALX4 | c.1133A>T (p.Asn378Ile) c.611A>T (p.Asn204Ile) | |
| 11 | g.44264957T>C | CA5955521 | ALX4 | c.1133A>G (p.Asn378Ser) c.611A>G (p.Asn204Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264957T>G | CA380181171 | ALX4 | c.1133A>C (p.Asn378Thr) c.611A>C (p.Asn204Thr) | |
| 11 | g.44264957T= | CA1967914509 | ALX4 | c.1133A= (p.Asn378=) c.611A= (p.Asn204=) | |
| 11 | g.44264958T>A | CA380181174 | ALX4 | c.1132A>T (p.Asn378Tyr) c.610A>T (p.Asn204Tyr) | |
| 11 | g.44264958T>C | CA380181176 | ALX4 | c.1132A>G (p.Asn378Asp) c.610A>G (p.Asn204Asp) | |
| 11 | g.44264958T>G | CA380181178 | ALX4 | c.1132A>C (p.Asn378His) c.610A>C (p.Asn204His) | |
| 11 | g.44264964_44264975del | CA2613210117 | ALX4 | c.1121_1132del (p.Ser374_Leu377del) c.599_610del (p.Ser200_Leu203del) | gnomAD v4 |
| 11 | g.44264959G>A | CA474035176 | ALX4 | c.1131C>T (p.Leu377=) c.609C>T (p.Leu203=) | gnomAD v4 |
| 11 | g.44264959G>C | CA474035178 | ALX4 | c.1131C>G (p.Leu377=) c.609C>G (p.Leu203=) | |
| 11 | g.44264959G>T | CA474035179 | ALX4 | c.1131C>A (p.Leu377=) c.609C>A (p.Leu203=) | |
| 11 | g.44264960A>C | CA380181179 | ALX4 | c.1130T>G (p.Leu377Arg) c.608T>G (p.Leu203Arg) | |
| 11 | g.44264960A>G | CA380181181 | ALX4 | c.1130T>C (p.Leu377Pro) c.608T>C (p.Leu203Pro) | |
| 11 | g.44264960A>T | CA380181183 | ALX4 | c.1130T>A (p.Leu377His) c.608T>A (p.Leu203His) | |
| 11 | g.44264961G>A | CA5955522 | ALX4 | c.1129C>T (p.Leu377Phe) c.607C>T (p.Leu203Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44264961G>C | CA380181186 | ALX4 | c.1129C>G (p.Leu377Val) c.607C>G (p.Leu203Val) | |
| 11 | g.44264961G= | CA1967914512 | ALX4 | c.1129C= (p.Leu377=) c.607C= (p.Leu203=) | |
| 11 | g.44264961G>T | CA380181188 | ALX4 | c.1129C>A (p.Leu377Ile) c.607C>A (p.Leu203Ile) | gnomAD v4 |
| 11 | g.44264962G>A | CA474035183 | ALX4 | c.1128C>T (p.Gly376=) c.606C>T (p.Gly202=) | |
| 11 | g.44264962G>C | CA474035184 | ALX4 | c.1128C>G (p.Gly376=) c.606C>G (p.Gly202=) | |
| 11 | g.44264962G>T | CA474035185 | ALX4 | c.1128C>A (p.Gly376=) c.606C>A (p.Gly202=) | |
| 11 | g.44264963C>A | CA380181194 | ALX4 | c.1127G>T (p.Gly376Val) c.605G>T (p.Gly202Val) | |
| 11 | g.44264963C>G | CA380181190 | ALX4 | c.1127G>C (p.Gly376Ala) c.605G>C (p.Gly202Ala) | |
| 11 | g.44264963C>T | CA380181192 | ALX4 | c.1127G>A (p.Gly376Asp) c.605G>A (p.Gly202Asp) | gnomAD v4 |
| 11 | g.44264964C>A | CA380181196 | ALX4 | c.1126G>T (p.Gly376Cys) c.604G>T (p.Gly202Cys) | |
| 11 | g.44264964C>G | CA380181198 | ALX4 | c.1126G>C (p.Gly376Arg) c.604G>C (p.Gly202Arg) | |
| 11 | g.44264964C>T | CA380181199 | ALX4 | c.1126G>A (p.Gly376Ser) c.604G>A (p.Gly202Ser) | |
| 11 | g.44264965T>A | CA474035190 | ALX4 | c.1125A>T (p.Pro375=) c.603A>T (p.Pro201=) | |
| 11 | g.44264965T>C | CA474035191 | ALX4 | c.1125A>G (p.Pro375=) c.603A>G (p.Pro201=) | gnomAD v4 |
| 11 | g.44264965T>G | CA474035192 | ALX4 | c.1125A>C (p.Pro375=) c.603A>C (p.Pro201=) | |
| 11 | g.44264966G>A | CA380181202 | ALX4 | c.1124C>T (p.Pro375Leu) c.602C>T (p.Pro201Leu) | |
| 11 | g.44264966G>C | CA380181203 | ALX4 | c.1124C>G (p.Pro375Arg) c.602C>G (p.Pro201Arg) | |
| 11 | g.44264966G>T | CA380181204 | ALX4 | c.1124C>A (p.Pro375Gln) c.602C>A (p.Pro201Gln) | |
| 11 | g.44264967G>A | CA380181207 | ALX4 | c.1123C>T (p.Pro375Ser) c.601C>T (p.Pro201Ser) | COSMIC |
| 11 | g.44264967G>C | CA380181208 | ALX4 | c.1123C>G (p.Pro375Ala) c.601C>G (p.Pro201Ala) | |
| 11 | g.44264967G>T | CA380181209 | ALX4 | c.1123C>A (p.Pro375Thr) c.601C>A (p.Pro201Thr) | COSMIC |
| 11 | g.44264968G>A | CA474035194 | ALX4 | c.1122C>T (p.Ser374=) c.600C>T (p.Ser200=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264968G>C | CA380181212 | ALX4 | c.1122C>G (p.Ser374Arg) c.600C>G (p.Ser200Arg) | |
| 11 | g.44264968G= | CA1967914515 | ALX4 | c.1122C= (p.Ser374=) c.600C= (p.Ser200=) | |
| 11 | g.44264968G>T | CA380181214 | ALX4 | c.1122C>A (p.Ser374Arg) c.600C>A (p.Ser200Arg) | dbSNP |
| 11 | g.44264969C>A | CA380181218 | ALX4 | c.1121G>T (p.Ser374Ile) c.599G>T (p.Ser200Ile) | |
| 11 | g.44264969C>G | CA380181220 | ALX4 | c.1121G>C (p.Ser374Thr) c.599G>C (p.Ser200Thr) | |
| 11 | g.44264969C>T | CA380181216 | ALX4 | c.1121G>A (p.Ser374Asn) c.599G>A (p.Ser200Asn) | |
| 11 | g.44264970T>A | CA380181222 | ALX4 | c.1120A>T (p.Ser374Cys) c.598A>T (p.Ser200Cys) | |
| 11 | g.44264970T>C | CA5955523 | ALX4 | c.1120A>G (p.Ser374Gly) c.598A>G (p.Ser200Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264970T>G | CA380181225 | ALX4 | c.1120A>C (p.Ser374Arg) c.598A>C (p.Ser200Arg) | gnomAD v4 |
| 11 | g.44264970T= | CA1967914517 | ALX4 | c.1120A= (p.Ser374=) c.598A= (p.Ser200=) | |
| 11 | g.44264971G>A | CA474035196 | ALX4 | c.1119C>T (p.Leu373=) c.597C>T (p.Leu199=) | |
| 11 | g.44264971G>C | CA474035197 | ALX4 | c.1119C>G (p.Leu373=) c.597C>G (p.Leu199=) | |
| 11 | g.44264971G>T | CA474035198 | ALX4 | c.1119C>A (p.Leu373=) c.597C>A (p.Leu199=) | |
| 11 | g.44264972A>C | CA380181228 | ALX4 | c.1118T>G (p.Leu373Arg) c.596T>G (p.Leu199Arg) | |
| 11 | g.44264972A>G | CA380181229 | ALX4 | c.1118T>C (p.Leu373Pro) c.596T>C (p.Leu199Pro) | |
| 11 | g.44264972A>T | CA380181231 | ALX4 | c.1118T>A (p.Leu373His) c.596T>A (p.Leu199His) | |
| 11 | g.44264973G>A | CA5955524 | ALX4 | c.1117C>T (p.Leu373Phe) c.595C>T (p.Leu199Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264973G>C | CA380181234 | ALX4 | c.1117C>G (p.Leu373Val) c.595C>G (p.Leu199Val) | |
| 11 | g.44264973G= | CA1967914522 | ALX4 | c.1117C= (p.Leu373=) c.595C= (p.Leu199=) | |
| 11 | g.44264973G>T | CA380181235 | ALX4 | c.1117C>A (p.Leu373Ile) c.595C>A (p.Leu199Ile) | COSMIC |
| 11 | g.44264974G>A | CA474035202 | ALX4 | c.1116C>T (p.Ser372=) c.594C>T (p.Ser198=) | |
| 11 | g.44264974G>C | CA380181239 | ALX4 | c.1116C>G (p.Ser372Arg) c.594C>G (p.Ser198Arg) | |
| 11 | g.44264974G>T | CA380181240 | ALX4 | c.1116C>A (p.Ser372Arg) c.594C>A (p.Ser198Arg) | |
| 11 | g.44264975C>A | CA380181243 | ALX4 | c.1115G>T (p.Ser372Ile) c.593G>T (p.Ser198Ile) | |
| 11 | g.44264975C>G | CA380181244 | ALX4 | c.1115G>C (p.Ser372Thr) c.593G>C (p.Ser198Thr) | |
| 11 | g.44264975C>T | CA380181246 | ALX4 | c.1115G>A (p.Ser372Asn) c.593G>A (p.Ser198Asn) | |
| 11 | g.44264976T>A | CA221487458 | ALX4 | c.1114A>T (p.Ser372Cys) c.592A>T (p.Ser198Cys) | dbSNP gnomAD v4 |
| 11 | g.44264976T>C | CA380181250 | ALX4 | c.1114A>G (p.Ser372Gly) c.592A>G (p.Ser198Gly) | |
| 11 | g.44264976T>G | CA380181249 | ALX4 | c.1114A>C (p.Ser372Arg) c.592A>C (p.Ser198Arg) | |
| 11 | g.44264976T= | CA1967914530 | ALX4 | c.1114A= (p.Ser372=) c.592A= (p.Ser198=) | |
| 11 | g.44264977G>A | CA474035207 | ALX4 | c.1113C>T (p.Ala371=) c.591C>T (p.Ala197=) | |
| 11 | g.44264977G>C | CA474035205 | ALX4 | c.1113C>G (p.Ala371=) c.591C>G (p.Ala197=) | |
| 11 | g.44264977G>T | CA474035206 | ALX4 | c.1113C>A (p.Ala371=) c.591C>A (p.Ala197=) | |
| 11 | g.44264983_44264996dup | CA2613210118 | ALX4 | c.1100_1113dup (p.Ser372CysfsTer32) c.578_591dup (p.Ser198CysfsTer32) | gnomAD v4 |
| 11 | g.44264978G>A | CA380181253 | ALX4 | c.1112C>T (p.Ala371Val) c.590C>T (p.Ala197Val) | |
| 11 | g.44264978G>C | CA380181255 | ALX4 | c.1112C>G (p.Ala371Gly) c.590C>G (p.Ala197Gly) | |
| 11 | g.44264978G= | CA1967914533 | ALX4 | c.1112C= (p.Ala371=) c.590C= (p.Ala197=) | |
| 11 | g.44264978G>T | CA5955525 | ALX4 | c.1112C>A (p.Ala371Asp) c.590C>A (p.Ala197Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44264979C>A | CA380181257 | ALX4 | c.1111G>T (p.Ala371Ser) c.589G>T (p.Ala197Ser) | |
| 11 | g.44264979C>G | CA380181259 | ALX4 | c.1111G>C (p.Ala371Pro) c.589G>C (p.Ala197Pro) | |
| 11 | g.44264979C>T | CA380181260 | ALX4 | c.1111G>A (p.Ala371Thr) c.589G>A (p.Ala197Thr) | gnomAD v4 |
| 11 | g.44264980T>A | CA474035211 | ALX4 | c.1110A>T (p.Ala370=) c.588A>T (p.Ala196=) | |
| 11 | g.44264980T>C | CA474035212 | ALX4 | c.1110A>G (p.Ala370=) c.588A>G (p.Ala196=) | |
| 11 | g.44264980T>G | CA474035213 | ALX4 | c.1110A>C (p.Ala370=) c.588A>C (p.Ala196=) | |
| 11 | g.44264981G>A | CA380181263 | ALX4 | c.1109C>T (p.Ala370Val) c.587C>T (p.Ala196Val) | |
| 11 | g.44264981G>C | CA380181265 | ALX4 | c.1109C>G (p.Ala370Gly) c.587C>G (p.Ala196Gly) | gnomAD v4 |
| 11 | g.44264981G>T | CA380181267 | ALX4 | c.1109C>A (p.Ala370Glu) c.587C>A (p.Ala196Glu) | gnomAD v4 |
| 11 | g.44264982C>A | CA380181269 | ALX4 | c.1108G>T (p.Ala370Ser) c.586G>T (p.Ala196Ser) | |
| 11 | g.44264982C= | CA1967914686 | ALX4 | c.1108G= (p.Ala370=) c.586G= (p.Ala196=) | |
| 11 | g.44264982C>G | CA380181271 | ALX4 | c.1108G>C (p.Ala370Pro) c.586G>C (p.Ala196Pro) | |
| 11 | g.44264982C>T | CA380181273 | ALX4 | c.1108G>A (p.Ala370Thr) c.586G>A (p.Ala196Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264983T>A | CA474035217 | ALX4 | c.1107A>T (p.Gly369=) c.585A>T (p.Gly195=) | |
| 11 | g.44264983T>C | CA474035219 | ALX4 | c.1107A>G (p.Gly369=) c.585A>G (p.Gly195=) | |
| 11 | g.44264983T>G | CA474035218 | ALX4 | c.1107A>C (p.Gly369=) c.585A>C (p.Gly195=) | |
| 11 | g.44264984C>A | CA380181275 | ALX4 | c.1106G>T (p.Gly369Val) c.584G>T (p.Gly195Val) | |
| 11 | g.44264984C= | CA1967914693 | ALX4 | c.1106G= (p.Gly369=) c.584G= (p.Gly195=) | |
| 11 | g.44264984C>G | CA380181278 | ALX4 | c.1106G>C (p.Gly369Ala) c.584G>C (p.Gly195Ala) | |
| 11 | g.44264984C>T | CA5955526 | ALX4 | c.1106G>A (p.Gly369Glu) c.584G>A (p.Gly195Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264985C>A | CA380181280 | ALX4 | c.1105G>T (p.Gly369Ter) c.583G>T (p.Gly195Ter) | |
| 11 | g.44264985C>G | CA380181284 | ALX4 | c.1105G>C (p.Gly369Arg) c.583G>C (p.Gly195Arg) | |
| 11 | g.44264985C>T | CA380181282 | ALX4 | c.1105G>A (p.Gly369Arg) c.583G>A (p.Gly195Arg) | |
| 11 | g.44264986A>C | CA380181286 | ALX4 | c.1104T>G (p.Phe368Leu) c.582T>G (p.Phe194Leu) | |
| 11 | g.44264986A>G | CA474035220 | ALX4 | c.1104T>C (p.Phe368=) c.582T>C (p.Phe194=) | |
| 11 | g.44264986A>T | CA380181288 | ALX4 | c.1104T>A (p.Phe368Leu) c.582T>A (p.Phe194Leu) | |
| 11 | g.44264987A>C | CA380181291 | ALX4 | c.1103T>G (p.Phe368Cys) c.581T>G (p.Phe194Cys) | |
| 11 | g.44264987A>G | CA380181292 | ALX4 | c.1103T>C (p.Phe368Ser) c.581T>C (p.Phe194Ser) | |
| 11 | g.44264987A>T | CA380181294 | ALX4 | c.1103T>A (p.Phe368Tyr) c.581T>A (p.Phe194Tyr) | |
| 11 | g.44264988A>C | CA380181296 | ALX4 | c.1102T>G (p.Phe368Val) c.580T>G (p.Phe194Val) | |
| 11 | g.44264988A>G | CA380181297 | ALX4 | c.1102T>C (p.Phe368Leu) c.580T>C (p.Phe194Leu) | |
| 11 | g.44264988A>T | CA380181298 | ALX4 | c.1102T>A (p.Phe368Ile) c.580T>A (p.Phe194Ile) | |
| 11 | g.44264989C>A | CA474035222 | ALX4 | c.1101G>T (p.Leu367=) c.579G>T (p.Leu193=) | |
| 11 | g.44264989C= | CA1967914700 | ALX4 | c.1101G= (p.Leu367=) c.579G= (p.Leu193=) | |
| 11 | g.44264989C>G | CA474035223 | ALX4 | c.1101G>C (p.Leu367=) c.579G>C (p.Leu193=) | |
| 11 | g.44264989C>T | CA474035224 | ALX4 | c.1101G>A (p.Leu367=) c.579G>A (p.Leu193=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44264990A>C | CA380181300 | ALX4 | c.1100T>G (p.Leu367Arg) c.578T>G (p.Leu193Arg) | |
| 11 | g.44264990A>G | CA380181302 | ALX4 | c.1100T>C (p.Leu367Pro) c.578T>C (p.Leu193Pro) | |
| 11 | g.44264990A>T | CA380181304 | ALX4 | c.1100T>A (p.Leu367Gln) c.578T>A (p.Leu193Gln) | |
| 11 | g.44264991G>A | CA474035226 | ALX4 | c.1099C>T (p.Leu367=) c.577C>T (p.Leu193=) | |
| 11 | g.44264991G>C | CA380181306 | ALX4 | c.1099C>G (p.Leu367Val) c.577C>G (p.Leu193Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44264991G= | CA1967914706 | ALX4 | c.1099C= (p.Leu367=) c.577C= (p.Leu193=) | |
| 11 | g.44264991G>T | CA380181308 | ALX4 | c.1099C>A (p.Leu367Met) c.577C>A (p.Leu193Met) | |
| 11 | g.44264992G>A | CA5955527 | ALX4 | c.1098C>T (p.Ser366=) c.576C>T (p.Ser192=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.44264992G>C | CA380181311 | ALX4 | c.1098C>G (p.Ser366Arg) c.576C>G (p.Ser192Arg) | |
| 11 | g.44264992G= | CA1967914712 | ALX4 | c.1098C= (p.Ser366=) c.576C= (p.Ser192=) | |
| 11 | g.44264992G>T | CA380181312 | ALX4 | c.1098C>A (p.Ser366Arg) c.576C>A (p.Ser192Arg) | gnomAD v4 |
| 11 | g.44264993C>A | CA380181315 | ALX4 | c.1097G>T (p.Ser366Ile) c.575G>T (p.Ser192Ile) | |
| 11 | g.44264993C= | CA1967914717 | ALX4 | c.1097G= (p.Ser366=) c.575G= (p.Ser192=) | |
| 11 | g.44264993C>G | CA380181317 | ALX4 | c.1097G>C (p.Ser366Thr) c.575G>C (p.Ser192Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264993C>T | CA380181319 | ALX4 | c.1097G>A (p.Ser366Asn) c.575G>A (p.Ser192Asn) | |
| 11 | g.44264994T>A | CA5955528 | ALX4 | c.1096A>T (p.Ser366Cys) c.574A>T (p.Ser192Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264994T>C | CA380181323 | ALX4 | c.1096A>G (p.Ser366Gly) c.574A>G (p.Ser192Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264994T>G | CA380181325 | ALX4 | c.1096A>C (p.Ser366Arg) c.574A>C (p.Ser192Arg) | |
| 11 | g.44264994T= | CA1967914719 | ALX4 | c.1096A= (p.Ser366=) c.574A= (p.Ser192=) | |
| 11 | g.44264995G>A | CA474035229 | ALX4 | c.1095C>T (p.Gly365=) c.573C>T (p.Gly191=) | dbSNP gnomAD v4 |
| 11 | g.44264995G>C | CA474035230 | ALX4 | c.1095C>G (p.Gly365=) c.573C>G (p.Gly191=) | |
| 11 | g.44264995G= | CA1967914722 | ALX4 | c.1095C= (p.Gly365=) c.573C= (p.Gly191=) | |
| 11 | g.44264995G>T | CA5955529 | ALX4 | c.1095C>A (p.Gly365=) c.573C>A (p.Gly191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264996C>A | CA380181328 | ALX4 | c.1094G>T (p.Gly365Val) c.572G>T (p.Gly191Val) | |
| 11 | g.44264996C= | CA1967914726 | ALX4 | c.1094G= (p.Gly365=) c.572G= (p.Gly191=) | |
| 11 | g.44264996C>G | CA380181329 | ALX4 | c.1094G>C (p.Gly365Ala) c.572G>C (p.Gly191Ala) | |
| 11 | g.44264996C>T | CA380181331 | ALX4 | c.1094G>A (p.Gly365Asp) c.572G>A (p.Gly191Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.44264997C>A | CA380181335 | ALX4 | c.1093G>T (p.Gly365Cys) c.571G>T (p.Gly191Cys) | |
| 11 | g.44264997C>G | CA380181337 | ALX4 | c.1093G>C (p.Gly365Arg) c.571G>C (p.Gly191Arg) | |
| 11 | g.44264997C>T | CA380181334 | ALX4 | c.1093G>A (p.Gly365Ser) c.571G>A (p.Gly191Ser) | |
| 11 | g.44264998C>A | CA380181339 | ALX4 | c.1092G>T (p.Met364Ile) c.570G>T (p.Met190Ile) | |
| 11 | g.44264998C>G | CA380181340 | ALX4 | c.1092G>C (p.Met364Ile) c.570G>C (p.Met190Ile) | |
| 11 | g.44264998C>T | CA380181342 | ALX4 | c.1092G>A (p.Met364Ile) c.570G>A (p.Met190Ile) | |
| 11 | g.44264999A= | CA1967914729 | ALX4 | c.1091T= (p.Met364=) c.569T= (p.Met190=) | |
| 11 | g.44264999A>C | CA380181344 | ALX4 | c.1091T>G (p.Met364Arg) c.569T>G (p.Met190Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44264999A>G | CA380181346 | ALX4 | c.1091T>C (p.Met364Thr) c.569T>C (p.Met190Thr) | dbSNP gnomAD v4 COSMIC |
| 11 | g.44264999A>T | CA380181348 | ALX4 | c.1091T>A (p.Met364Lys) c.569T>A (p.Met190Lys) | |
| 11 | g.44265000T>A | CA380181350 | ALX4 | c.1090A>T (p.Met364Leu) c.568A>T (p.Met190Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44265000T>C | CA5955530 | ALX4 | c.1090A>G (p.Met364Val) c.568A>G (p.Met190Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265000T>G | CA380181352 | ALX4 | c.1090A>C (p.Met364Leu) c.568A>C (p.Met190Leu) | |
| 11 | g.44265000T= | CA1967914734 | ALX4 | c.1090A= (p.Met364=) c.568A= (p.Met190=) | |
| 11 | g.44265001G>A | CA474035235 | ALX4 | c.1089C>T (p.His363=) c.567C>T (p.His189=) | |
| 11 | g.44265001G>C | CA380181355 | ALX4 | c.1089C>G (p.His363Gln) c.567C>G (p.His189Gln) | |
| 11 | g.44265001G= | CA1967914739 | ALX4 | c.1089C= (p.His363=) c.567C= (p.His189=) | |
| 11 | g.44265001G>T | CA221487521 | ALX4 | c.1089C>A (p.His363Gln) c.567C>A (p.His189Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44265002T>A | CA380181360 | ALX4 | c.1088A>T (p.His363Leu) c.566A>T (p.His189Leu) | |
| 11 | g.44265002T>C | CA380181361 | ALX4 | c.1088A>G (p.His363Arg) c.566A>G (p.His189Arg) | |
| 11 | g.44265002T>G | CA380181358 | ALX4 | c.1088A>C (p.His363Pro) c.566A>C (p.His189Pro) | |
| 11 | g.44265003G>A | CA380181362 | ALX4 | c.1087C>T (p.His363Tyr) c.565C>T (p.His189Tyr) | COSMIC |
| 11 | g.44265003G>C | CA380181364 | ALX4 | c.1087C>G (p.His363Asp) c.565C>G (p.His189Asp) | |
| 11 | g.44265003G>T | CA380181366 | ALX4 | c.1087C>A (p.His363Asn) c.565C>A (p.His189Asn) | gnomAD v4 |
| 11 | g.44265004C>A | CA5955531 | ALX4 | c.1086G>T (p.Thr362=) c.564G>T (p.Thr188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265004C= | CA1967914743 | ALX4 | c.1086G= (p.Thr362=) c.564G= (p.Thr188=) | |
| 11 | g.44265004C>G | CA474035237 | ALX4 | c.1086G>C (p.Thr362=) c.564G>C (p.Thr188=) | |
| 11 | g.44265004C>T | CA5955532 | ALX4 | c.1086G>A (p.Thr362=) c.564G>A (p.Thr188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265005G>A | CA5955533 | ALX4 | c.1085C>T (p.Thr362Met) c.563C>T (p.Thr188Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44265005G>C | CA380181370 | ALX4 | c.1085C>G (p.Thr362Arg) c.563C>G (p.Thr188Arg) | gnomAD v4 |
| 11 | g.44265005G= | CA1967914752 | ALX4 | c.1085C= (p.Thr362=) c.563C= (p.Thr188=) | |
| 11 | g.44265005G>T | CA380181372 | ALX4 | c.1085C>A (p.Thr362Lys) c.563C>A (p.Thr188Lys) | |
| 11 | g.44265006T>A | CA380181375 | ALX4 | c.1084A>T (p.Thr362Ser) c.562A>T (p.Thr188Ser) | |
| 11 | g.44265006T>C | CA5955534 | ALX4 | c.1084A>G (p.Thr362Ala) c.562A>G (p.Thr188Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44265006T>G | CA380181378 | ALX4 | c.1084A>C (p.Thr362Pro) c.562A>C (p.Thr188Pro) | |
| 11 | g.44265006T= | CA1967914758 | ALX4 | c.1084A= (p.Thr362=) c.562A= (p.Thr188=) |