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 |
|---|---|---|---|---|---|
| X | g.25013829_25017090del | CA2580617641 | ClinVar | ||
| X | g.25015616A>C | CA412613845 | ARX | c.122T>G (p.Met41Arg) n.65T>G n.97T>G | |
| X | g.25015616A>G | CA412613846 | ARX | c.122T>C (p.Met41Thr) n.65T>C n.97T>C | |
| X | g.25015616A>T | CA412613847 | ARX | c.122T>A (p.Met41Lys) n.65T>A n.97T>A | |
| X | g.25015617T>A | CA412613848 | ARX | c.121A>T (p.Met41Leu) n.64A>T n.96A>T | |
| X | g.25015617T>C | CA412613849 | ARX | c.121A>G (p.Met41Val) n.64A>G n.96A>G | |
| X | g.25015617T>G | CA412613850 | ARX | c.121A>C (p.Met41Leu) n.64A>C n.96A>C | ClinVar dbSNP gnomAD v4 |
| X | g.25015620dup | CA1139533002 | ARX | c.121dup (p.Met41AsnfsTer29) n.64dup n.96dup | |
| X | g.25015618T>A | CA412613851 | ARX | c.120A>T (p.Lys40Asn) n.63A>T n.95A>T | |
| X | g.25015618T>C | CA515749928 | ARX | c.120A>G (p.Lys40=) n.63A>G n.95A>G | |
| X | g.25015618T>G | CA412613852 | ARX | c.120A>C (p.Lys40Asn) n.63A>C n.95A>C | |
| X | g.25015619T>A | CA412613855 | ARX | c.119A>T (p.Lys40Ile) n.62A>T n.94A>T | |
| X | g.25015619T>C | CA412613853 | ARX | c.119A>G (p.Lys40Arg) n.62A>G n.94A>G | |
| X | g.25015619T>G | CA412613854 | ARX | c.119A>C (p.Lys40Thr) n.62A>C n.94A>C | |
| X | g.25015620T>A | CA412613856 | ARX | c.118A>T (p.Lys40Ter) n.61A>T n.93A>T | |
| X | g.25015620T>C | CA412613857 | ARX | c.118A>G (p.Lys40Glu) n.61A>G n.93A>G | |
| X | g.25015620T>G | CA412613858 | ARX | c.118A>C (p.Lys40Gln) n.61A>C n.93A>C | |
| X | g.25015621G>A | CA515749935 | ARX | c.117C>T (p.Cys39=) n.60C>T n.92C>T | |
| X | g.25015621G>C | CA412613859 | ARX | c.117C>G (p.Cys39Trp) n.60C>G n.92C>G | |
| X | g.25015621G>T | CA412613860 | ARX | c.117C>A (p.Cys39Ter) n.60C>A n.92C>A | |
| X | g.25015622C>A | CA412613861 | ARX | c.116G>T (p.Cys39Phe) n.59G>T n.91G>T | |
| X | g.25015622C>G | CA412613862 | ARX | c.116G>C (p.Cys39Ser) n.59G>C n.91G>C | gnomAD v4 |
| X | g.25015622C>T | CA412613863 | ARX | c.116G>A (p.Cys39Tyr) n.59G>A n.91G>A | |
| X | g.25015623A>C | CA412613864 | ARX | c.115T>G (p.Cys39Gly) n.58T>G n.90T>G | |
| X | g.25015623A>G | CA412613865 | ARX | c.115T>C (p.Cys39Arg) n.58T>C n.90T>C | |
| X | g.25015623A>T | CA412613866 | ARX | c.115T>A (p.Cys39Ser) n.58T>A n.90T>A | |
| X | g.25015624C>A | CA515749942 | ARX | c.114G>T (p.Pro38=) n.57G>T n.89G>T | gnomAD v4 |
| X | g.25015624C>G | CA515749943 | ARX | c.114G>C (p.Pro38=) n.57G>C n.89G>C | |
| X | g.25015624C>T | CA515749945 | ARX | c.114G>A (p.Pro38=) n.57G>A n.89G>A | |
| X | g.25015625G>A | CA412613867 | ARX | c.113C>T (p.Pro38Leu) n.56C>T n.88C>T | dbSNP gnomAD v2 |
| X | g.25015625G>C | CA412613869 | ARX | c.113C>G (p.Pro38Arg) n.56C>G n.88C>G | |
| X | g.25015625G= | CA2420210123 | ARX | c.113C= (p.Pro38=) n.56C= n.88C= | |
| X | g.25015625G>T | CA412613868 | ARX | c.113C>A (p.Pro38Gln) n.56C>A n.88C>A | |
| X | g.25015626G>A | CA412613870 | ARX | c.112C>T (p.Pro38Ser) n.55C>T n.87C>T | |
| X | g.25015626G>C | CA412613872 | ARX | c.112C>G (p.Pro38Ala) n.55C>G n.87C>G | |
| X | g.25015626G>T | CA412613871 | ARX | c.112C>A (p.Pro38Thr) n.55C>A n.87C>A | |
| X | g.25015627G>A | CA515749950 | ARX | c.111C>T (p.Ser37=) n.54C>T n.86C>T | |
| X | g.25015627G>C | CA412613873 | ARX | c.111C>G (p.Ser37Arg) n.54C>G n.86C>G | |
| X | g.25015627G>T | CA412613874 | ARX | c.111C>A (p.Ser37Arg) n.54C>A n.86C>A | |
| X | g.25015628C>A | CA412613875 | ARX | c.110G>T (p.Ser37Ile) n.53G>T n.85G>T | ClinVar dbSNP |
| X | g.25015628C= | CA2420210124 | ARX | c.110G= (p.Ser37=) n.53G= n.85G= | |
| X | g.25015628C>G | CA412613876 | ARX | c.110G>C (p.Ser37Thr) n.53G>C n.85G>C | |
| X | g.25015628C>T | CA412613877 | ARX | c.110G>A (p.Ser37Asn) n.53G>A n.85G>A | |
| X | g.25015629T>A | CA412613878 | ARX | c.109A>T (p.Ser37Cys) n.52A>T n.84A>T | |
| X | g.25015629T>C | CA412613879 | ARX | c.109A>G (p.Ser37Gly) n.52A>G n.84A>G | |
| X | g.25015629T>G | CA412613880 | ARX | c.109A>C (p.Ser37Arg) n.52A>C n.84A>C | |
| X | g.25015630C>A | CA412613881 | ARX | c.108G>T (p.Arg36Ser) n.51G>T n.83G>T | |
| X | g.25015630C>G | CA412613882 | ARX | c.108G>C (p.Arg36Ser) n.51G>C n.83G>C | |
| X | g.25015630C>T | CA515749959 | ARX | c.108G>A (p.Arg36=) n.51G>A n.83G>A | |
| X | g.25015631C>A | CA412613883 | ARX | c.107G>T (p.Arg36Met) n.50G>T n.82G>T |