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 |
|---|---|---|---|---|---|
| 3 | g.184357834_184360239del | CA347650 | CLCN2,EIF2B5 | c.64-1107_639del c.64-1107_615+129del c.33-1107_584+129del n.40-1107_591+129del c.29-1107_580+129del c.64-1107_507del c.2106+213127_2106+215532del (n.2106+213127_2106+215532del) n.71-1107_646del n.188-1107_763del | ClinVar |
| 3 | g.184357834C>A | CA355456403 | CLCN2,EIF2B5 | c.638G>T (p.Ser213Ile) c.88+128G>T c.615+128G>T (n.615+128G>T) c.584+128G>T c.521G>T (p.Ser174Ile) n.591+128G>T c.346G>T c.580+128G>T c.506G>T (p.Ser169Ile) c.2106+213127C>A (n.2106+213127C>A) n.645G>T c.-453+128G>T (n.-453+128G>T) n.762G>T | |
| 3 | g.184357834C>G | CA355456405 | CLCN2,EIF2B5 | c.638G>C (p.Ser213Thr) c.88+128G>C c.615+128G>C (n.615+128G>C) c.584+128G>C c.521G>C (p.Ser174Thr) n.591+128G>C c.346G>C c.580+128G>C c.506G>C (p.Ser169Thr) c.2106+213127C>G (n.2106+213127C>G) n.645G>C c.-453+128G>C (n.-453+128G>C) n.762G>C | |
| 3 | g.184357834C>T | CA355456408 | CLCN2,EIF2B5 | c.638G>A (p.Ser213Asn) c.88+128G>A c.615+128G>A (n.615+128G>A) c.584+128G>A c.521G>A (p.Ser174Asn) n.591+128G>A c.346G>A c.580+128G>A c.506G>A (p.Ser169Asn) c.2106+213127C>T (n.2106+213127C>T) n.645G>A c.-453+128G>A (n.-453+128G>A) n.762G>A | COSMIC |
| 3 | g.184357835T>A | CA355456411 | CLCN2,EIF2B5 | c.637A>T (p.Ser213Cys) c.88+127A>T c.615+127A>T (n.615+127A>T) c.584+127A>T c.520A>T (p.Ser174Cys) n.591+127A>T c.345A>T c.580+127A>T c.505A>T (p.Ser169Cys) c.2106+213128T>A (n.2106+213128T>A) n.644A>T c.-453+127A>T (n.-453+127A>T) n.761A>T | |
| 3 | g.184357835T>C | CA355456412 | CLCN2,EIF2B5 | c.637A>G (p.Ser213Gly) c.88+127A>G c.615+127A>G (n.615+127A>G) c.584+127A>G c.520A>G (p.Ser174Gly) n.591+127A>G c.345A>G c.580+127A>G c.505A>G (p.Ser169Gly) c.2106+213128T>C (n.2106+213128T>C) n.644A>G c.-453+127A>G (n.-453+127A>G) n.761A>G | |
| 3 | g.184357835T>G | CA355456414 | CLCN2,EIF2B5 | c.637A>C (p.Ser213Arg) c.88+127A>C c.615+127A>C (n.615+127A>C) c.584+127A>C c.520A>C (p.Ser174Arg) n.591+127A>C c.345A>C c.580+127A>C c.505A>C (p.Ser169Arg) c.2106+213128T>G (n.2106+213128T>G) n.644A>C c.-453+127A>C (n.-453+127A>C) n.761A>C | |
| 3 | g.184357836T>A | CA437331810 | CLCN2,EIF2B5 | c.636A>T (p.Ala212=) c.88+126A>T c.615+126A>T (n.615+126A>T) c.584+126A>T c.519A>T (p.Ala173=) n.591+126A>T c.344A>T c.580+126A>T c.504A>T (p.Ala168=) c.2106+213129T>A (n.2106+213129T>A) n.643A>T c.-453+126A>T (n.-453+126A>T) n.760A>T | |
| 3 | g.184357836T>C | CA437331811 | CLCN2,EIF2B5 | c.636A>G (p.Ala212=) c.88+126A>G c.615+126A>G (n.615+126A>G) c.584+126A>G c.519A>G (p.Ala173=) n.591+126A>G c.344A>G c.580+126A>G c.504A>G (p.Ala168=) c.2106+213129T>C (n.2106+213129T>C) n.643A>G c.-453+126A>G (n.-453+126A>G) n.760A>G | |
| 3 | g.184357836T>G | CA437331812 | CLCN2,EIF2B5 | c.636A>C (p.Ala212=) c.88+126A>C c.615+126A>C (n.615+126A>C) c.584+126A>C c.519A>C (p.Ala173=) n.591+126A>C c.344A>C c.580+126A>C c.504A>C (p.Ala168=) c.2106+213129T>G (n.2106+213129T>G) n.643A>C c.-453+126A>C (n.-453+126A>C) n.760A>C | |
| 3 | g.184357837G>A | CA355456417 | CLCN2,EIF2B5 | c.635C>T (p.Ala212Val) c.88+125C>T c.615+125C>T (n.615+125C>T) c.584+125C>T c.518C>T (p.Ala173Val) n.591+125C>T c.343C>T c.580+125C>T c.503C>T (p.Ala168Val) c.2106+213130G>A (n.2106+213130G>A) n.642C>T c.-453+125C>T (n.-453+125C>T) n.759C>T | |
| 3 | g.184357837G>C | CA355456419 | CLCN2,EIF2B5 | c.635C>G (p.Ala212Gly) c.88+125C>G c.615+125C>G (n.615+125C>G) c.584+125C>G c.518C>G (p.Ala173Gly) n.591+125C>G c.343C>G c.580+125C>G c.503C>G (p.Ala168Gly) c.2106+213130G>C (n.2106+213130G>C) n.642C>G c.-453+125C>G (n.-453+125C>G) n.759C>G | |
| 3 | g.184357837G>T | CA355456421 | CLCN2,EIF2B5 | c.635C>A (p.Ala212Glu) c.88+125C>A c.615+125C>A (n.615+125C>A) c.584+125C>A c.518C>A (p.Ala173Glu) n.591+125C>A c.343C>A c.580+125C>A c.503C>A (p.Ala168Glu) c.2106+213130G>T (n.2106+213130G>T) n.642C>A c.-453+125C>A (n.-453+125C>A) n.759C>A | |
| 3 | g.184357838C>A | CA88899117 | CLCN2,EIF2B5 | c.634G>T (p.Ala212Ser) c.88+124G>T c.615+124G>T (n.615+124G>T) c.584+124G>T c.517G>T (p.Ala173Ser) n.591+124G>T c.342G>T c.580+124G>T c.502G>T (p.Ala168Ser) c.2106+213131C>A (n.2106+213131C>A) n.641G>T c.-453+124G>T (n.-453+124G>T) n.758G>T | dbSNP |
| 3 | g.184357838C= | CA1425990428 | CLCN2,EIF2B5 | c.634G= (p.Ala212=) c.88+124G= c.615+124G= (n.615+124G=) c.584+124G= c.517G= (p.Ala173=) n.591+124G= c.342G= c.580+124G= c.502G= (p.Ala168=) c.2106+213131C= (n.2106+213131C=) n.641G= c.-453+124G= (n.-453+124G=) n.758G= | |
| 3 | g.184357838C>G | CA355456426 | CLCN2,EIF2B5 | c.634G>C (p.Ala212Pro) c.88+124G>C c.615+124G>C (n.615+124G>C) c.584+124G>C c.517G>C (p.Ala173Pro) n.591+124G>C c.342G>C c.580+124G>C c.502G>C (p.Ala168Pro) c.2106+213131C>G (n.2106+213131C>G) n.641G>C c.-453+124G>C (n.-453+124G>C) n.758G>C | |
| 3 | g.184357838C>T | CA2734417 | CLCN2,EIF2B5 | c.634G>A (p.Ala212Thr) c.88+124G>A c.615+124G>A (n.615+124G>A) c.584+124G>A c.517G>A (p.Ala173Thr) n.591+124G>A c.342G>A c.580+124G>A c.502G>A (p.Ala168Thr) c.2106+213131C>T (n.2106+213131C>T) n.641G>A c.-453+124G>A (n.-453+124G>A) n.758G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184357839G>A | CA2734419 | CLCN2,EIF2B5 | c.633C>T (p.Ile211=) c.88+123C>T c.615+123C>T (n.615+123C>T) c.584+123C>T c.516C>T (p.Ile172=) n.591+123C>T c.341C>T c.580+123C>T c.501C>T (p.Ile167=) c.2106+213132G>A (n.2106+213132G>A) n.640C>T c.-453+123C>T (n.-453+123C>T) n.757C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184357839G>C | CA2734418 | CLCN2,EIF2B5 | c.633C>G (p.Ile211Met) c.88+123C>G c.615+123C>G (n.615+123C>G) c.584+123C>G c.516C>G (p.Ile172Met) n.591+123C>G c.341C>G c.580+123C>G c.501C>G (p.Ile167Met) c.2106+213132G>C (n.2106+213132G>C) n.640C>G c.-453+123C>G (n.-453+123C>G) n.757C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184357839G= | CA1425990429 | CLCN2,EIF2B5 | c.633C= (p.Ile211=) c.88+123C= c.615+123C= (n.615+123C=) c.584+123C= c.516C= (p.Ile172=) n.591+123C= c.341C= c.580+123C= c.501C= (p.Ile167=) c.2106+213132G= (n.2106+213132G=) n.640C= c.-453+123C= (n.-453+123C=) n.757C= | |
| 3 | g.184357839G>T | CA437331813 | CLCN2,EIF2B5 | c.633C>A (p.Ile211=) c.88+123C>A c.615+123C>A (n.615+123C>A) c.584+123C>A c.516C>A (p.Ile172=) n.591+123C>A c.341C>A c.580+123C>A c.501C>A (p.Ile167=) c.2106+213132G>T (n.2106+213132G>T) n.640C>A c.-453+123C>A (n.-453+123C>A) n.757C>A | |
| 3 | g.184357839_184357841delinsGAT | CA1425990430 | CLCN2,EIF2B5 | c.631_633delinsATC (p.Ile211=) c.88+121_88+123delinsATC c.615+121_615+123delinsATC (n.615+121_615+123delinsATC) c.584+121_584+123delinsATC c.514_516delinsATC (p.Ile172=) n.591+121_591+123delinsATC c.339_341delinsATC c.580+121_580+123delinsATC c.499_501delinsATC (p.Ile167=) c.2106+213132_2106+213134delinsGAT (n.2106+213132_2106+213134delinsGAT) n.638_640delinsATC c.-453+121_-453+123delinsATC (n.-453+121_-453+123delinsATC) n.755_757delinsATC | |
| 3 | g.184357840A>C | CA355456434 | CLCN2,EIF2B5 | c.632T>G (p.Ile211Ser) c.88+122T>G c.615+122T>G (n.615+122T>G) c.584+122T>G c.515T>G (p.Ile172Ser) n.591+122T>G c.340T>G c.580+122T>G c.500T>G (p.Ile167Ser) c.2106+213133A>C (n.2106+213133A>C) n.639T>G c.-453+122T>G (n.-453+122T>G) n.756T>G | |
| 3 | g.184357840A>G | CA355456436 | CLCN2,EIF2B5 | c.632T>C (p.Ile211Thr) c.88+122T>C c.615+122T>C (n.615+122T>C) c.584+122T>C c.515T>C (p.Ile172Thr) n.591+122T>C c.340T>C c.580+122T>C c.500T>C (p.Ile167Thr) c.2106+213133A>G (n.2106+213133A>G) n.639T>C c.-453+122T>C (n.-453+122T>C) n.756T>C | |
| 3 | g.184357840A>T | CA355456432 | CLCN2,EIF2B5 | c.632T>A (p.Ile211Asn) c.88+122T>A c.615+122T>A (n.615+122T>A) c.584+122T>A c.515T>A (p.Ile172Asn) n.591+122T>A c.340T>A c.580+122T>A c.500T>A (p.Ile167Asn) c.2106+213133A>T (n.2106+213133A>T) n.639T>A c.-453+122T>A (n.-453+122T>A) n.756T>A | |
| 3 | g.184357842_184357843del | CA1057235600 | CLCN2,EIF2B5 | c.631_632del (p.Ile211ArgfsTer20) c.88+121_88+122del c.615+121_615+122del (n.615+121_615+122del) c.584+121_584+122del c.514_515del (p.Ile172ArgfsTer20) n.591+121_591+122del c.339_340del c.580+121_580+122del c.499_500del (p.Ile167ArgfsTer20) c.2106+213135_2106+213136del (n.2106+213135_2106+213136del) n.638_639del c.-453+121_-453+122del (n.-453+121_-453+122del) n.755_756del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184357841T>A | CA355456441 | CLCN2,EIF2B5 | c.631A>T (p.Ile211Phe) c.88+121A>T c.615+121A>T (n.615+121A>T) c.584+121A>T c.514A>T (p.Ile172Phe) n.591+121A>T c.339A>T c.580+121A>T c.499A>T (p.Ile167Phe) c.2106+213134T>A (n.2106+213134T>A) n.638A>T c.-453+121A>T (n.-453+121A>T) n.755A>T | |
| 3 | g.184357841T>C | CA355456437 | CLCN2,EIF2B5 | c.631A>G (p.Ile211Val) c.88+121A>G c.615+121A>G (n.615+121A>G) c.584+121A>G c.514A>G (p.Ile172Val) n.591+121A>G c.339A>G c.580+121A>G c.499A>G (p.Ile167Val) c.2106+213134T>C (n.2106+213134T>C) n.638A>G c.-453+121A>G (n.-453+121A>G) n.755A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184357841T>G | CA355456439 | CLCN2,EIF2B5 | c.631A>C (p.Ile211Leu) c.88+121A>C c.615+121A>C (n.615+121A>C) c.584+121A>C c.514A>C (p.Ile172Leu) n.591+121A>C c.339A>C c.580+121A>C c.499A>C (p.Ile167Leu) c.2106+213134T>G (n.2106+213134T>G) n.638A>C c.-453+121A>C (n.-453+121A>C) n.755A>C | |
| 3 | g.184357841T= | CA1425990431 | CLCN2,EIF2B5 | c.631A= (p.Ile211=) c.88+121A= c.615+121A= (n.615+121A=) c.584+121A= c.514A= (p.Ile172=) n.591+121A= c.339A= c.580+121A= c.499A= (p.Ile167=) c.2106+213134T= (n.2106+213134T=) n.638A= c.-453+121A= (n.-453+121A=) n.755A= | |
| 3 | g.184357842A= | CA1425990432 | CLCN2,EIF2B5 | c.630T= (p.His210=) c.88+120T= c.615+120T= (n.615+120T=) c.584+120T= c.513T= (p.His171=) n.591+120T= c.338T= c.580+120T= c.498T= (p.His166=) c.2106+213135A= (n.2106+213135A=) n.637T= c.-453+120T= (n.-453+120T=) n.754T= | |
| 3 | g.184357842A>C | CA355456443 | CLCN2,EIF2B5 | c.630T>G (p.His210Gln) c.88+120T>G c.615+120T>G (n.615+120T>G) c.584+120T>G c.513T>G (p.His171Gln) n.591+120T>G c.338T>G c.580+120T>G c.498T>G (p.His166Gln) c.2106+213135A>C (n.2106+213135A>C) n.637T>G c.-453+120T>G (n.-453+120T>G) n.754T>G | |
| 3 | g.184357842A>G | CA437331814 | CLCN2,EIF2B5 | c.630T>C (p.His210=) c.88+120T>C c.615+120T>C (n.615+120T>C) c.584+120T>C c.513T>C (p.His171=) n.591+120T>C c.338T>C c.580+120T>C c.498T>C (p.His166=) c.2106+213135A>G (n.2106+213135A>G) n.637T>C c.-453+120T>C (n.-453+120T>C) n.754T>C | dbSNP |
| 3 | g.184357842A>T | CA355456445 | CLCN2,EIF2B5 | c.630T>A (p.His210Gln) c.88+120T>A c.615+120T>A (n.615+120T>A) c.584+120T>A c.513T>A (p.His171Gln) n.591+120T>A c.338T>A c.580+120T>A c.498T>A (p.His166Gln) c.2106+213135A>T (n.2106+213135A>T) n.637T>A c.-453+120T>A (n.-453+120T>A) n.754T>A | |
| 3 | g.184357843T>A | CA355456447 | CLCN2,EIF2B5 | c.629A>T (p.His210Leu) c.88+119A>T c.615+119A>T (n.615+119A>T) c.584+119A>T c.512A>T (p.His171Leu) n.591+119A>T c.337A>T c.580+119A>T c.497A>T (p.His166Leu) c.2106+213136T>A (n.2106+213136T>A) n.636A>T c.-453+119A>T (n.-453+119A>T) n.753A>T | |
| 3 | g.184357843T>C | CA355456449 | CLCN2,EIF2B5 | c.629A>G (p.His210Arg) c.88+119A>G c.615+119A>G (n.615+119A>G) c.584+119A>G c.512A>G (p.His171Arg) n.591+119A>G c.337A>G c.580+119A>G c.497A>G (p.His166Arg) c.2106+213136T>C (n.2106+213136T>C) n.636A>G c.-453+119A>G (n.-453+119A>G) n.753A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184357843T>G | CA355456451 | CLCN2,EIF2B5 | c.629A>C (p.His210Pro) c.88+119A>C c.615+119A>C (n.615+119A>C) c.584+119A>C c.512A>C (p.His171Pro) n.591+119A>C c.337A>C c.580+119A>C c.497A>C (p.His166Pro) c.2106+213136T>G (n.2106+213136T>G) n.636A>C c.-453+119A>C (n.-453+119A>C) n.753A>C | |
| 3 | g.184357843T= | CA1425990433 | CLCN2,EIF2B5 | c.629A= (p.His210=) c.88+119A= c.615+119A= (n.615+119A=) c.584+119A= c.512A= (p.His171=) n.591+119A= c.337A= c.580+119A= c.497A= (p.His166=) c.2106+213136T= (n.2106+213136T=) n.636A= c.-453+119A= (n.-453+119A=) n.753A= | |
| 3 | g.184357844G>A | CA355456454 | CLCN2,EIF2B5 | c.628C>T (p.His210Tyr) c.88+118C>T c.615+118C>T (n.615+118C>T) c.584+118C>T c.511C>T (p.His171Tyr) n.591+118C>T c.336C>T c.580+118C>T c.496C>T (p.His166Tyr) c.2106+213137G>A (n.2106+213137G>A) n.635C>T c.-453+118C>T (n.-453+118C>T) n.752C>T | |
| 3 | g.184357844G>C | CA355456456 | CLCN2,EIF2B5 | c.628C>G (p.His210Asp) c.88+118C>G c.615+118C>G (n.615+118C>G) c.584+118C>G c.511C>G (p.His171Asp) n.591+118C>G c.336C>G c.580+118C>G c.496C>G (p.His166Asp) c.2106+213137G>C (n.2106+213137G>C) n.635C>G c.-453+118C>G (n.-453+118C>G) n.752C>G | |
| 3 | g.184357844G>T | CA355456458 | CLCN2,EIF2B5 | c.628C>A (p.His210Asn) c.88+118C>A c.615+118C>A (n.615+118C>A) c.584+118C>A c.511C>A (p.His171Asn) n.591+118C>A c.336C>A c.580+118C>A c.496C>A (p.His166Asn) c.2106+213137G>T (n.2106+213137G>T) n.635C>A c.-453+118C>A (n.-453+118C>A) n.752C>A | |
| 3 | g.184357845C>A | CA437331815 | CLCN2,EIF2B5 | c.627G>T (p.Val209=) c.88+117G>T c.615+117G>T (n.615+117G>T) c.584+117G>T c.510G>T (p.Val170=) n.591+117G>T c.335G>T c.580+117G>T c.495G>T (p.Val165=) c.2106+213138C>A (n.2106+213138C>A) n.634G>T c.-453+117G>T (n.-453+117G>T) n.751G>T | |
| 3 | g.184357845C>G | CA437331816 | CLCN2,EIF2B5 | c.627G>C (p.Val209=) c.88+117G>C c.615+117G>C (n.615+117G>C) c.584+117G>C c.510G>C (p.Val170=) n.591+117G>C c.335G>C c.580+117G>C c.495G>C (p.Val165=) c.2106+213138C>G (n.2106+213138C>G) n.634G>C c.-453+117G>C (n.-453+117G>C) n.751G>C | |
| 3 | g.184357845C>T | CA437331817 | CLCN2,EIF2B5 | c.627G>A (p.Val209=) c.88+117G>A c.615+117G>A (n.615+117G>A) c.584+117G>A c.510G>A (p.Val170=) n.591+117G>A c.335G>A c.580+117G>A c.495G>A (p.Val165=) c.2106+213138C>T (n.2106+213138C>T) n.634G>A c.-453+117G>A (n.-453+117G>A) n.751G>A | |
| 3 | g.184357846A>C | CA355456460 | CLCN2,EIF2B5 | c.626T>G (p.Val209Gly) c.88+116T>G c.615+116T>G (n.615+116T>G) c.584+116T>G c.509T>G (p.Val170Gly) n.591+116T>G c.334T>G c.580+116T>G c.494T>G (p.Val165Gly) c.2106+213139A>C (n.2106+213139A>C) n.633T>G c.-453+116T>G (n.-453+116T>G) n.750T>G | |
| 3 | g.184357846A>G | CA355456461 | CLCN2,EIF2B5 | c.626T>C (p.Val209Ala) c.88+116T>C c.615+116T>C (n.615+116T>C) c.584+116T>C c.509T>C (p.Val170Ala) n.591+116T>C c.334T>C c.580+116T>C c.494T>C (p.Val165Ala) c.2106+213139A>G (n.2106+213139A>G) n.633T>C c.-453+116T>C (n.-453+116T>C) n.750T>C | gnomAD v4 |
| 3 | g.184357846A>T | CA355456465 | CLCN2,EIF2B5 | c.626T>A (p.Val209Glu) c.88+116T>A c.615+116T>A (n.615+116T>A) c.584+116T>A c.509T>A (p.Val170Glu) n.591+116T>A c.334T>A c.580+116T>A c.494T>A (p.Val165Glu) c.2106+213139A>T (n.2106+213139A>T) n.633T>A c.-453+116T>A (n.-453+116T>A) n.750T>A | |
| 3 | g.184357847C>A | CA355456472 | CLCN2,EIF2B5 | c.625G>T (p.Val209Leu) c.88+115G>T c.615+115G>T (n.615+115G>T) c.584+115G>T c.508G>T (p.Val170Leu) n.591+115G>T c.333G>T c.580+115G>T c.493G>T (p.Val165Leu) c.2106+213140C>A (n.2106+213140C>A) n.632G>T c.-453+115G>T (n.-453+115G>T) n.749G>T | |
| 3 | g.184357847C= | CA1425990434 | CLCN2,EIF2B5 | c.625G= (p.Val209=) c.88+115G= c.615+115G= (n.615+115G=) c.584+115G= c.508G= (p.Val170=) n.591+115G= c.333G= c.580+115G= c.493G= (p.Val165=) c.2106+213140C= (n.2106+213140C=) n.632G= c.-453+115G= (n.-453+115G=) n.749G= | |
| 3 | g.184357847C>G | CA355456468 | CLCN2,EIF2B5 | c.625G>C (p.Val209Leu) c.88+115G>C c.615+115G>C (n.615+115G>C) c.584+115G>C c.508G>C (p.Val170Leu) n.591+115G>C c.333G>C c.580+115G>C c.493G>C (p.Val165Leu) c.2106+213140C>G (n.2106+213140C>G) n.632G>C c.-453+115G>C (n.-453+115G>C) n.749G>C | gnomAD v4 |