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 |
|---|---|---|---|---|---|
| 10 | g.54195750G>A | CA376518841 | PCDH15 | c.1253C>T (p.Thr418Ile) c.1238C>T (p.Thr413Ile) c.97C>T c.1127C>T (p.Thr376Ile) c.1172C>T (p.Thr391Ile) c.1098+18186C>T (n.1098+18186C>T) c.50C>T (p.Thr17Ile) c.876+121521C>T (n.876+121521C>T) c.-24-338487C>T (n.-24-338487C>T) n.2251C>T | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54195750G>C | CA376518842 | PCDH15 | c.1253C>G (p.Thr418Ser) c.1238C>G (p.Thr413Ser) c.97C>G c.1127C>G (p.Thr376Ser) c.1172C>G (p.Thr391Ser) c.1098+18186C>G (n.1098+18186C>G) c.50C>G (p.Thr17Ser) c.876+121521C>G (n.876+121521C>G) c.-24-338487C>G (n.-24-338487C>G) n.2251C>G | dbSNP |
| 10 | g.54195750G= | CA1910956143 | PCDH15 | c.1253C= (p.Thr418=) c.1238C= (p.Thr413=) c.97C= c.1127C= (p.Thr376=) c.1172C= (p.Thr391=) c.1098+18186C= (n.1098+18186C=) c.50C= (p.Thr17=) c.876+121521C= (n.876+121521C=) c.-24-338487C= (n.-24-338487C=) n.2251C= | |
| 10 | g.54195750G>T | CA376518844 | PCDH15 | c.1253C>A (p.Thr418Asn) c.1238C>A (p.Thr413Asn) c.97C>A c.1127C>A (p.Thr376Asn) c.1172C>A (p.Thr391Asn) c.1098+18186C>A (n.1098+18186C>A) c.50C>A (p.Thr17Asn) c.876+121521C>A (n.876+121521C>A) c.-24-338487C>A (n.-24-338487C>A) n.2251C>A | |
| 10 | g.54195751T>A | CA376518845 | PCDH15 | c.1252A>T (p.Thr418Ser) c.1237A>T (p.Thr413Ser) c.96A>T c.1126A>T (p.Thr376Ser) c.1171A>T (p.Thr391Ser) c.1098+18185A>T (n.1098+18185A>T) c.49A>T (p.Thr17Ser) c.876+121520A>T (n.876+121520A>T) c.-24-338488A>T (n.-24-338488A>T) n.2250A>T | |
| 10 | g.54195751T>C | CA376518865 | PCDH15 | c.1252A>G (p.Thr418Ala) c.1237A>G (p.Thr413Ala) c.96A>G c.1126A>G (p.Thr376Ala) c.1171A>G (p.Thr391Ala) c.1098+18185A>G (n.1098+18185A>G) c.49A>G (p.Thr17Ala) c.876+121520A>G (n.876+121520A>G) c.-24-338488A>G (n.-24-338488A>G) n.2250A>G | |
| 10 | g.54195751T>G | CA376518848 | PCDH15 | c.1252A>C (p.Thr418Pro) c.1237A>C (p.Thr413Pro) c.96A>C c.1126A>C (p.Thr376Pro) c.1171A>C (p.Thr391Pro) c.1098+18185A>C (n.1098+18185A>C) c.49A>C (p.Thr17Pro) c.876+121520A>C (n.876+121520A>C) c.-24-338488A>C (n.-24-338488A>C) n.2250A>C | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54195752T>A | CA469493885 | PCDH15 | c.1251A>T (p.Ala417=) c.1236A>T (p.Ala412=) c.95A>T c.1125A>T (p.Ala375=) c.1170A>T (p.Ala390=) c.1098+18184A>T (n.1098+18184A>T) c.48A>T (p.Ala16=) c.876+121519A>T (n.876+121519A>T) c.-24-338489A>T (n.-24-338489A>T) n.2249A>T | |
| 10 | g.54195752T>C | CA469493886 | PCDH15 | c.1251A>G (p.Ala417=) c.1236A>G (p.Ala412=) c.95A>G c.1125A>G (p.Ala375=) c.1170A>G (p.Ala390=) c.1098+18184A>G (n.1098+18184A>G) c.48A>G (p.Ala16=) c.876+121519A>G (n.876+121519A>G) c.-24-338489A>G (n.-24-338489A>G) n.2249A>G | |
| 10 | g.54195752T>G | CA469493887 | PCDH15 | c.1251A>C (p.Ala417=) c.1236A>C (p.Ala412=) c.95A>C c.1125A>C (p.Ala375=) c.1170A>C (p.Ala390=) c.1098+18184A>C (n.1098+18184A>C) c.48A>C (p.Ala16=) c.876+121519A>C (n.876+121519A>C) c.-24-338489A>C (n.-24-338489A>C) n.2249A>C | |
| 10 | g.54195753G>A | CA207238941 | PCDH15 | c.1250C>T (p.Ala417Val) c.1235C>T (p.Ala412Val) c.94C>T c.1124C>T (p.Ala375Val) c.1169C>T (p.Ala390Val) c.1098+18183C>T (n.1098+18183C>T) c.47C>T (p.Ala16Val) c.876+121518C>T (n.876+121518C>T) c.-24-338490C>T (n.-24-338490C>T) n.2248C>T | dbSNP |
| 10 | g.54195753G>C | CA376518867 | PCDH15 | c.1250C>G (p.Ala417Gly) c.1235C>G (p.Ala412Gly) c.94C>G c.1124C>G (p.Ala375Gly) c.1169C>G (p.Ala390Gly) c.1098+18183C>G (n.1098+18183C>G) c.47C>G (p.Ala16Gly) c.876+121518C>G (n.876+121518C>G) c.-24-338490C>G (n.-24-338490C>G) n.2248C>G | ClinVar |
| 10 | g.54195753G= | CA1910956146 | PCDH15 | c.1250C= (p.Ala417=) c.1235C= (p.Ala412=) c.94C= c.1124C= (p.Ala375=) c.1169C= (p.Ala390=) c.1098+18183C= (n.1098+18183C=) c.47C= (p.Ala16=) c.876+121518C= (n.876+121518C=) c.-24-338490C= (n.-24-338490C=) n.2248C= | |
| 10 | g.54195753G>T | CA376518868 | PCDH15 | c.1250C>A (p.Ala417Glu) c.1235C>A (p.Ala412Glu) c.94C>A c.1124C>A (p.Ala375Glu) c.1169C>A (p.Ala390Glu) c.1098+18183C>A (n.1098+18183C>A) c.47C>A (p.Ala16Glu) c.876+121518C>A (n.876+121518C>A) c.-24-338490C>A (n.-24-338490C>A) n.2248C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.54195754C>A | CA376518870 | PCDH15 | c.1249G>T (p.Ala417Ser) c.1234G>T (p.Ala412Ser) c.93G>T c.1123G>T (p.Ala375Ser) c.1168G>T (p.Ala390Ser) c.1098+18182G>T (n.1098+18182G>T) c.46G>T (p.Ala16Ser) c.876+121517G>T (n.876+121517G>T) c.-24-338491G>T (n.-24-338491G>T) n.2247G>T | |
| 10 | g.54195754C= | CA1910956149 | PCDH15 | c.1249G= (p.Ala417=) c.1234G= (p.Ala412=) c.93G= c.1123G= (p.Ala375=) c.1168G= (p.Ala390=) c.1098+18182G= (n.1098+18182G=) c.46G= (p.Ala16=) c.876+121517G= (n.876+121517G=) c.-24-338491G= (n.-24-338491G=) n.2247G= | |
| 10 | g.54195754C>G | CA376518872 | PCDH15 | c.1249G>C (p.Ala417Pro) c.1234G>C (p.Ala412Pro) c.93G>C c.1123G>C (p.Ala375Pro) c.1168G>C (p.Ala390Pro) c.1098+18182G>C (n.1098+18182G>C) c.46G>C (p.Ala16Pro) c.876+121517G>C (n.876+121517G>C) c.-24-338491G>C (n.-24-338491G>C) n.2247G>C | |
| 10 | g.54195754C>T | CA376518873 | PCDH15 | c.1249G>A (p.Ala417Thr) c.1234G>A (p.Ala412Thr) c.93G>A c.1123G>A (p.Ala375Thr) c.1168G>A (p.Ala390Thr) c.1098+18182G>A (n.1098+18182G>A) c.46G>A (p.Ala16Thr) c.876+121517G>A (n.876+121517G>A) c.-24-338491G>A (n.-24-338491G>A) n.2247G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54195755T>A | CA469493889 | PCDH15 | c.1248A>T (p.Gly416=) c.1233A>T (p.Gly411=) c.92A>T c.1122A>T (p.Gly374=) c.1167A>T (p.Gly389=) c.1098+18181A>T (n.1098+18181A>T) c.45A>T (p.Gly15=) c.876+121516A>T (n.876+121516A>T) c.-24-338492A>T (n.-24-338492A>T) n.2246A>T | |
| 10 | g.54195755T>C | CA469493890 | PCDH15 | c.1248A>G (p.Gly416=) c.1233A>G (p.Gly411=) c.92A>G c.1122A>G (p.Gly374=) c.1167A>G (p.Gly389=) c.1098+18181A>G (n.1098+18181A>G) c.45A>G (p.Gly15=) c.876+121516A>G (n.876+121516A>G) c.-24-338492A>G (n.-24-338492A>G) n.2246A>G | |
| 10 | g.54195755T>G | CA5506460 | PCDH15 | c.1248A>C (p.Gly416=) c.1233A>C (p.Gly411=) c.92A>C c.1122A>C (p.Gly374=) c.1167A>C (p.Gly389=) c.1098+18181A>C (n.1098+18181A>C) c.45A>C (p.Gly15=) c.876+121516A>C (n.876+121516A>C) c.-24-338492A>C (n.-24-338492A>C) n.2246A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.54195755T= | CA1910956152 | PCDH15 | c.1248A= (p.Gly416=) c.1233A= (p.Gly411=) c.92A= c.1122A= (p.Gly374=) c.1167A= (p.Gly389=) c.1098+18181A= (n.1098+18181A=) c.45A= (p.Gly15=) c.876+121516A= (n.876+121516A=) c.-24-338492A= (n.-24-338492A=) n.2246A= | |
| 10 | g.54195756C>A | CA376518874 | PCDH15 | c.1247G>T (p.Gly416Val) c.1232G>T (p.Gly411Val) c.91G>T c.1121G>T (p.Gly374Val) c.1166G>T (p.Gly389Val) c.1098+18180G>T (n.1098+18180G>T) c.44G>T (p.Gly15Val) c.876+121515G>T (n.876+121515G>T) c.-24-338493G>T (n.-24-338493G>T) n.2245G>T | gnomAD v4 |
| 10 | g.54195756C>G | CA376518877 | PCDH15 | c.1247G>C (p.Gly416Ala) c.1232G>C (p.Gly411Ala) c.91G>C c.1121G>C (p.Gly374Ala) c.1166G>C (p.Gly389Ala) c.1098+18180G>C (n.1098+18180G>C) c.44G>C (p.Gly15Ala) c.876+121515G>C (n.876+121515G>C) c.-24-338493G>C (n.-24-338493G>C) n.2245G>C | |
| 10 | g.54195756C>T | CA376518875 | PCDH15 | c.1247G>A (p.Gly416Glu) c.1232G>A (p.Gly411Glu) c.91G>A c.1121G>A (p.Gly374Glu) c.1166G>A (p.Gly389Glu) c.1098+18180G>A (n.1098+18180G>A) c.44G>A (p.Gly15Glu) c.876+121515G>A (n.876+121515G>A) c.-24-338493G>A (n.-24-338493G>A) n.2245G>A | gnomAD v4 |
| 10 | g.54195757C>A | CA376518881 | PCDH15 | c.1246G>T (p.Gly416Ter) c.1231G>T (p.Gly411Ter) c.90G>T c.1120G>T (p.Gly374Ter) c.1165G>T (p.Gly389Ter) c.1098+18179G>T (n.1098+18179G>T) c.43G>T (p.Gly15Ter) c.876+121514G>T (n.876+121514G>T) c.-24-338494G>T (n.-24-338494G>T) n.2244G>T | ClinVar |
| 10 | g.54195757C>G | CA376518884 | PCDH15 | c.1246G>C (p.Gly416Arg) c.1231G>C (p.Gly411Arg) c.90G>C c.1120G>C (p.Gly374Arg) c.1165G>C (p.Gly389Arg) c.1098+18179G>C (n.1098+18179G>C) c.43G>C (p.Gly15Arg) c.876+121514G>C (n.876+121514G>C) c.-24-338494G>C (n.-24-338494G>C) n.2244G>C | |
| 10 | g.54195757C>T | CA376518885 | PCDH15 | c.1246G>A (p.Gly416Arg) c.1231G>A (p.Gly411Arg) c.90G>A c.1120G>A (p.Gly374Arg) c.1165G>A (p.Gly389Arg) c.1098+18179G>A (n.1098+18179G>A) c.43G>A (p.Gly15Arg) c.876+121514G>A (n.876+121514G>A) c.-24-338494G>A (n.-24-338494G>A) n.2244G>A | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54195758C>A | CA469493891 | PCDH15 | c.1245G>T (p.Val415=) c.1230G>T (p.Val410=) c.89G>T c.1119G>T (p.Val373=) c.1164G>T (p.Val388=) c.1098+18178G>T (n.1098+18178G>T) c.42G>T (p.Val14=) c.876+121513G>T (n.876+121513G>T) c.-24-338495G>T (n.-24-338495G>T) n.2243G>T | |
| 10 | g.54195758C= | CA1910956161 | PCDH15 | c.1245G= (p.Val415=) c.1230G= (p.Val410=) c.89G= c.1119G= (p.Val373=) c.1164G= (p.Val388=) c.1098+18178G= (n.1098+18178G=) c.42G= (p.Val14=) c.876+121513G= (n.876+121513G=) c.-24-338495G= (n.-24-338495G=) n.2243G= | |
| 10 | g.54195758C>G | CA5506461 | PCDH15 | c.1245G>C (p.Val415=) c.1230G>C (p.Val410=) c.89G>C c.1119G>C (p.Val373=) c.1164G>C (p.Val388=) c.1098+18178G>C (n.1098+18178G>C) c.42G>C (p.Val14=) c.876+121513G>C (n.876+121513G>C) c.-24-338495G>C (n.-24-338495G>C) n.2243G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.54195758C>T | CA469493893 | PCDH15 | c.1245G>A (p.Val415=) c.1230G>A (p.Val410=) c.89G>A c.1119G>A (p.Val373=) c.1164G>A (p.Val388=) c.1098+18178G>A (n.1098+18178G>A) c.42G>A (p.Val14=) c.876+121513G>A (n.876+121513G>A) c.-24-338495G>A (n.-24-338495G>A) n.2243G>A | |
| 10 | g.54195759A>C | CA376518896 | PCDH15 | c.1244T>G (p.Val415Gly) c.1229T>G (p.Val410Gly) c.88T>G c.1118T>G (p.Val373Gly) c.1163T>G (p.Val388Gly) c.1098+18177T>G (n.1098+18177T>G) c.41T>G (p.Val14Gly) c.876+121512T>G (n.876+121512T>G) c.-24-338496T>G (n.-24-338496T>G) n.2242T>G | |
| 10 | g.54195759A>G | CA376518887 | PCDH15 | c.1244T>C (p.Val415Ala) c.1229T>C (p.Val410Ala) c.88T>C c.1118T>C (p.Val373Ala) c.1163T>C (p.Val388Ala) c.1098+18177T>C (n.1098+18177T>C) c.41T>C (p.Val14Ala) c.876+121512T>C (n.876+121512T>C) c.-24-338496T>C (n.-24-338496T>C) n.2242T>C | |
| 10 | g.54195759A>T | CA376518894 | PCDH15 | c.1244T>A (p.Val415Glu) c.1229T>A (p.Val410Glu) c.88T>A c.1118T>A (p.Val373Glu) c.1163T>A (p.Val388Glu) c.1098+18177T>A (n.1098+18177T>A) c.41T>A (p.Val14Glu) c.876+121512T>A (n.876+121512T>A) c.-24-338496T>A (n.-24-338496T>A) n.2242T>A | gnomAD v4 |
| 10 | g.54195760C>A | CA376518898 | PCDH15 | c.1243G>T (p.Val415Leu) c.1228G>T (p.Val410Leu) c.87G>T c.1117G>T (p.Val373Leu) c.1162G>T (p.Val388Leu) c.1098+18176G>T (n.1098+18176G>T) c.40G>T (p.Val14Leu) c.876+121511G>T (n.876+121511G>T) c.-24-338497G>T (n.-24-338497G>T) n.2241G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.54195760C= | CA1910956164 | PCDH15 | c.1243G= (p.Val415=) c.1228G= (p.Val410=) c.87G= c.1117G= (p.Val373=) c.1162G= (p.Val388=) c.1098+18176G= (n.1098+18176G=) c.40G= (p.Val14=) c.876+121511G= (n.876+121511G=) c.-24-338497G= (n.-24-338497G=) n.2241G= | |
| 10 | g.54195760C>G | CA376518900 | PCDH15 | c.1243G>C (p.Val415Leu) c.1228G>C (p.Val410Leu) c.87G>C c.1117G>C (p.Val373Leu) c.1162G>C (p.Val388Leu) c.1098+18176G>C (n.1098+18176G>C) c.40G>C (p.Val14Leu) c.876+121511G>C (n.876+121511G>C) c.-24-338497G>C (n.-24-338497G>C) n.2241G>C | |
| 10 | g.54195760C>T | CA376518901 | PCDH15 | c.1243G>A (p.Val415Met) c.1228G>A (p.Val410Met) c.87G>A c.1117G>A (p.Val373Met) c.1162G>A (p.Val388Met) c.1098+18176G>A (n.1098+18176G>A) c.40G>A (p.Val14Met) c.876+121511G>A (n.876+121511G>A) c.-24-338497G>A (n.-24-338497G>A) n.2241G>A | |
| 10 | g.54195761T>A | CA469493896 | PCDH15 | c.1242A>T (p.Pro414=) c.1227A>T (p.Pro409=) c.86A>T c.1116A>T (p.Pro372=) c.1161A>T (p.Pro387=) c.1098+18175A>T (n.1098+18175A>T) c.39A>T (p.Pro13=) c.876+121510A>T (n.876+121510A>T) c.-24-338498A>T (n.-24-338498A>T) n.2240A>T | |
| 10 | g.54195761T>C | CA469493897 | PCDH15 | c.1242A>G (p.Pro414=) c.1227A>G (p.Pro409=) c.86A>G c.1116A>G (p.Pro372=) c.1161A>G (p.Pro387=) c.1098+18175A>G (n.1098+18175A>G) c.39A>G (p.Pro13=) c.876+121510A>G (n.876+121510A>G) c.-24-338498A>G (n.-24-338498A>G) n.2240A>G | gnomAD v4 |
| 10 | g.54195761T>G | CA469493898 | PCDH15 | c.1242A>C (p.Pro414=) c.1227A>C (p.Pro409=) c.86A>C c.1116A>C (p.Pro372=) c.1161A>C (p.Pro387=) c.1098+18175A>C (n.1098+18175A>C) c.39A>C (p.Pro13=) c.876+121510A>C (n.876+121510A>C) c.-24-338498A>C (n.-24-338498A>C) n.2240A>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.54195761T= | CA1910956170 | PCDH15 | c.1242A= (p.Pro414=) c.1227A= (p.Pro409=) c.86A= c.1116A= (p.Pro372=) c.1161A= (p.Pro387=) c.1098+18175A= (n.1098+18175A=) c.39A= (p.Pro13=) c.876+121510A= (n.876+121510A=) c.-24-338498A= (n.-24-338498A=) n.2240A= | |
| 10 | g.54195762G>A | CA376518902 | PCDH15 | c.1241C>T (p.Pro414Leu) c.1226C>T (p.Pro409Leu) c.85C>T c.1115C>T (p.Pro372Leu) c.1160C>T (p.Pro387Leu) c.1098+18174C>T (n.1098+18174C>T) c.38C>T (p.Pro13Leu) c.876+121509C>T (n.876+121509C>T) c.-24-338499C>T (n.-24-338499C>T) n.2239C>T | |
| 10 | g.54195762G>C | CA376518903 | PCDH15 | c.1241C>G (p.Pro414Arg) c.1226C>G (p.Pro409Arg) c.85C>G c.1115C>G (p.Pro372Arg) c.1160C>G (p.Pro387Arg) c.1098+18174C>G (n.1098+18174C>G) c.38C>G (p.Pro13Arg) c.876+121509C>G (n.876+121509C>G) c.-24-338499C>G (n.-24-338499C>G) n.2239C>G | |
| 10 | g.54195762G= | CA1910956173 | PCDH15 | c.1241C= (p.Pro414=) c.1226C= (p.Pro409=) c.85C= c.1115C= (p.Pro372=) c.1160C= (p.Pro387=) c.1098+18174C= (n.1098+18174C=) c.38C= (p.Pro13=) c.876+121509C= (n.876+121509C=) c.-24-338499C= (n.-24-338499C=) n.2239C= | |
| 10 | g.54195762G>T | CA376518904 | PCDH15 | c.1241C>A (p.Pro414Gln) c.1226C>A (p.Pro409Gln) c.85C>A c.1115C>A (p.Pro372Gln) c.1160C>A (p.Pro387Gln) c.1098+18174C>A (n.1098+18174C>A) c.38C>A (p.Pro13Gln) c.876+121509C>A (n.876+121509C>A) c.-24-338499C>A (n.-24-338499C>A) n.2239C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54195763G>A | CA376518906 | PCDH15 | c.1240C>T (p.Pro414Ser) c.1225C>T (p.Pro409Ser) c.84C>T c.1114C>T (p.Pro372Ser) c.1159C>T (p.Pro387Ser) c.1098+18173C>T (n.1098+18173C>T) c.37C>T (p.Pro13Ser) c.876+121508C>T (n.876+121508C>T) c.-24-338500C>T (n.-24-338500C>T) n.2238C>T | |
| 10 | g.54195763G>C | CA376518908 | PCDH15 | c.1240C>G (p.Pro414Ala) c.1225C>G (p.Pro409Ala) c.84C>G c.1114C>G (p.Pro372Ala) c.1159C>G (p.Pro387Ala) c.1098+18173C>G (n.1098+18173C>G) c.37C>G (p.Pro13Ala) c.876+121508C>G (n.876+121508C>G) c.-24-338500C>G (n.-24-338500C>G) n.2238C>G | |
| 10 | g.54195763G>T | CA376518910 | PCDH15 | c.1240C>A (p.Pro414Thr) c.1225C>A (p.Pro409Thr) c.84C>A c.1114C>A (p.Pro372Thr) c.1159C>A (p.Pro387Thr) c.1098+18173C>A (n.1098+18173C>A) c.37C>A (p.Pro13Thr) c.876+121508C>A (n.876+121508C>A) c.-24-338500C>A (n.-24-338500C>A) n.2238C>A |