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 |
|---|---|---|---|---|---|
| 15 | g.38351373_38351385del | CA617561334 | SPRED1 | c.1044_1056del (p.Gly350MetfsTer?) c.1080_1092del (p.Gly362MetfsTer?) c.822_834del (p.Gly276MetfsTer?) c.981_993del (p.Gly329MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351373_38351386delinsTAGGGGAAAATGTC | CA2170812695 | SPRED1 | c.1044_1057delinsTAGGGGAAAATGTC (p.Val348=) c.1080_1093delinsTAGGGGAAAATGTC (p.Val360=) c.822_835delinsTAGGGGAAAATGTC (p.Val274=) c.981_994delinsTAGGGGAAAATGTC (p.Val327=) | |
| 15 | g.38351377_38351389del | CA16042867 | SPRED1 | c.1048_1060del (p.Gly350MetfsTer?) c.1084_1096del (p.Gly362MetfsTer?) c.826_838del (p.Gly276MetfsTer?) c.985_997del (p.Gly329MetfsTer?) | ClinVar dbSNP |
| 15 | g.38351377_38351378del | CA658761251 | SPRED1 | c.1048_1049del (p.Gly350LysfsTer10) c.1084_1085del (p.Gly362LysfsTer10) c.826_827del (p.Gly276LysfsTer10) c.985_986del (p.Gly329LysfsTer10) | |
| 15 | g.38351377G>A | CA391933914 | SPRED1 | c.1048G>A (p.Gly350Arg) c.1084G>A (p.Gly362Arg) c.826G>A (p.Gly276Arg) c.985G>A (p.Gly329Arg) | |
| 15 | g.38351377G>C | CA391933915 | SPRED1 | c.1048G>C (p.Gly350Arg) c.1084G>C (p.Gly362Arg) c.826G>C (p.Gly276Arg) c.985G>C (p.Gly329Arg) | |
| 15 | g.38351377G>T | CA391933917 | SPRED1 | c.1048G>T (p.Gly350Ter) c.1084G>T (p.Gly362Ter) c.826G>T (p.Gly276Ter) c.985G>T (p.Gly329Ter) | |
| 15 | g.38351378G>A | CA391933918 | SPRED1 | c.1049G>A (p.Gly350Glu) c.1085G>A (p.Gly362Glu) c.827G>A (p.Gly276Glu) c.986G>A (p.Gly329Glu) | |
| 15 | g.38351378G>C | CA391933919 | SPRED1 | c.1049G>C (p.Gly350Ala) c.1085G>C (p.Gly362Ala) c.827G>C (p.Gly276Ala) c.986G>C (p.Gly329Ala) | |
| 15 | g.38351378G>T | CA391933921 | SPRED1 | c.1049G>T (p.Gly350Val) c.1085G>T (p.Gly362Val) c.827G>T (p.Gly276Val) c.986G>T (p.Gly329Val) | |
| 15 | g.38351378_38351379delinsGA | CA2170812700 | SPRED1 | c.1049_1050delinsGA (p.Gly350=) c.1085_1086delinsGA (p.Gly362=) c.827_828delinsGA (p.Gly276=) c.986_987delinsGA (p.Gly329=) | |
| 15 | g.38351379A>C | CA490012067 | SPRED1 | c.1050A>C (p.Gly350=) c.1086A>C (p.Gly362=) c.828A>C (p.Gly276=) c.987A>C (p.Gly329=) | |
| 15 | g.38351379A>G | CA490012069 | SPRED1 | c.1050A>G (p.Gly350=) c.1086A>G (p.Gly362=) c.828A>G (p.Gly276=) c.987A>G (p.Gly329=) | |
| 15 | g.38351379A>T | CA490012070 | SPRED1 | c.1050A>T (p.Gly350=) c.1086A>T (p.Gly362=) c.828A>T (p.Gly276=) c.987A>T (p.Gly329=) | |
| 15 | g.38351382del | CA891843556 | SPRED1 | c.1053del (p.Lys351AsnfsTer?) c.1089del (p.Lys363AsnfsTer?) c.831del (p.Lys277AsnfsTer?) c.990del (p.Lys330AsnfsTer?) | ClinVar dbSNP |
| 15 | g.38351380_38351382del | CA2627716212 | SPRED1 | c.1051_1053del (p.Lys351del) c.1087_1089del (p.Lys363del) c.829_831del (p.Lys277del) c.988_990del (p.Lys330del) | gnomAD v4 |
| 15 | g.38351380A>C | CA391933923 | SPRED1 | c.1051A>C (p.Lys351Gln) c.1087A>C (p.Lys363Gln) c.829A>C (p.Lys277Gln) c.988A>C (p.Lys330Gln) | |
| 15 | g.38351380A>G | CA391933925 | SPRED1 | c.1051A>G (p.Lys351Glu) c.1087A>G (p.Lys363Glu) c.829A>G (p.Lys277Glu) c.988A>G (p.Lys330Glu) | |
| 15 | g.38351380A>T | CA391933926 | SPRED1 | c.1051A>T (p.Lys351Ter) c.1087A>T (p.Lys363Ter) c.829A>T (p.Lys277Ter) c.988A>T (p.Lys330Ter) | |
| 15 | g.38351381A>C | CA391933930 | SPRED1 | c.1052A>C (p.Lys351Thr) c.1088A>C (p.Lys363Thr) c.830A>C (p.Lys277Thr) c.989A>C (p.Lys330Thr) | |
| 15 | g.38351381A>G | CA391933932 | SPRED1 | c.1052A>G (p.Lys351Arg) c.1088A>G (p.Lys363Arg) c.830A>G (p.Lys277Arg) c.989A>G (p.Lys330Arg) | |
| 15 | g.38351381A>T | CA391933928 | SPRED1 | c.1052A>T (p.Lys351Ile) c.1088A>T (p.Lys363Ile) c.830A>T (p.Lys277Ile) c.989A>T (p.Lys330Ile) | |
| 15 | g.38351382A>C | CA391933933 | SPRED1 | c.1053A>C (p.Lys351Asn) c.1089A>C (p.Lys363Asn) c.831A>C (p.Lys277Asn) c.990A>C (p.Lys330Asn) | COSMIC |
| 15 | g.38351382A>G | CA490012077 | SPRED1 | c.1053A>G (p.Lys351=) c.1089A>G (p.Lys363=) c.831A>G (p.Lys277=) c.990A>G (p.Lys330=) | |
| 15 | g.38351382A>T | CA391933935 | SPRED1 | c.1053A>T (p.Lys351Asn) c.1089A>T (p.Lys363Asn) c.831A>T (p.Lys277Asn) c.990A>T (p.Lys330Asn) | |
| 15 | g.38351383T>A | CA391933937 | SPRED1 | c.1054T>A (p.Cys352Ser) c.1090T>A (p.Cys364Ser) c.832T>A (p.Cys278Ser) c.991T>A (p.Cys331Ser) | |
| 15 | g.38351383T>C | CA391933939 | SPRED1 | c.1054T>C (p.Cys352Arg) c.1090T>C (p.Cys364Arg) c.832T>C (p.Cys278Arg) c.991T>C (p.Cys331Arg) | |
| 15 | g.38351383T>G | CA391933940 | SPRED1 | c.1054T>G (p.Cys352Gly) c.1090T>G (p.Cys364Gly) c.832T>G (p.Cys278Gly) c.991T>G (p.Cys331Gly) | |
| 15 | g.38351384G>A | CA391933945 | SPRED1 | c.1055G>A (p.Cys352Tyr) c.1091G>A (p.Cys364Tyr) c.833G>A (p.Cys278Tyr) c.992G>A (p.Cys331Tyr) | |
| 15 | g.38351384G>C | CA391933943 | SPRED1 | c.1055G>C (p.Cys352Ser) c.1091G>C (p.Cys364Ser) c.833G>C (p.Cys278Ser) c.992G>C (p.Cys331Ser) | |
| 15 | g.38351384G>T | CA391933944 | SPRED1 | c.1055G>T (p.Cys352Phe) c.1091G>T (p.Cys364Phe) c.833G>T (p.Cys278Phe) c.992G>T (p.Cys331Phe) | |
| 15 | g.38351385T>A | CA391933948 | SPRED1 | c.1056T>A (p.Cys352Ter) c.1092T>A (p.Cys364Ter) c.834T>A (p.Cys278Ter) c.993T>A (p.Cys331Ter) | |
| 15 | g.38351385T>C | CA490012087 | SPRED1 | c.1056T>C (p.Cys352=) c.1092T>C (p.Cys364=) c.834T>C (p.Cys278=) c.993T>C (p.Cys331=) | |
| 15 | g.38351385T>G | CA391933950 | SPRED1 | c.1056T>G (p.Cys352Trp) c.1092T>G (p.Cys364Trp) c.834T>G (p.Cys278Trp) c.993T>G (p.Cys331Trp) | |
| 15 | g.38351386C>A | CA391933951 | SPRED1 | c.1057C>A (p.Gln353Lys) c.1093C>A (p.Gln365Lys) c.835C>A (p.Gln279Lys) c.994C>A (p.Gln332Lys) | |
| 15 | g.38351386C>G | CA391933953 | SPRED1 | c.1057C>G (p.Gln353Glu) c.1093C>G (p.Gln365Glu) c.835C>G (p.Gln279Glu) c.994C>G (p.Gln332Glu) | |
| 15 | g.38351386C>T | CA391933955 | SPRED1 | c.1057C>T (p.Gln353Ter) c.1093C>T (p.Gln365Ter) c.835C>T (p.Gln279Ter) c.994C>T (p.Gln332Ter) | COSMIC |
| 15 | g.38351387A>C | CA391933960 | SPRED1 | c.1058A>C (p.Gln353Pro) c.1094A>C (p.Gln365Pro) c.836A>C (p.Gln279Pro) c.995A>C (p.Gln332Pro) | |
| 15 | g.38351387A>G | CA391933958 | SPRED1 | c.1058A>G (p.Gln353Arg) c.1094A>G (p.Gln365Arg) c.836A>G (p.Gln279Arg) c.995A>G (p.Gln332Arg) | |
| 15 | g.38351387A>T | CA391933957 | SPRED1 | c.1058A>T (p.Gln353Leu) c.1094A>T (p.Gln365Leu) c.836A>T (p.Gln279Leu) c.995A>T (p.Gln332Leu) | |
| 15 | g.38351388G>A | CA490012099 | SPRED1 | c.1059G>A (p.Gln353=) c.1095G>A (p.Gln365=) c.837G>A (p.Gln279=) c.996G>A (p.Gln332=) | |
| 15 | g.38351388G>C | CA391933962 | SPRED1 | c.1059G>C (p.Gln353His) c.1095G>C (p.Gln365His) c.837G>C (p.Gln279His) c.996G>C (p.Gln332His) | |
| 15 | g.38351388G>T | CA391933963 | SPRED1 | c.1059G>T (p.Gln353His) c.1095G>T (p.Gln365His) c.837G>T (p.Gln279His) c.996G>T (p.Gln332His) | |
| 15 | g.38351389G>A | CA391933965 | SPRED1 | c.1060G>A (p.Asp354Asn) c.1096G>A (p.Asp366Asn) c.838G>A (p.Asp280Asn) c.997G>A (p.Asp333Asn) | |
| 15 | g.38351389G>C | CA391933966 | SPRED1 | c.1060G>C (p.Asp354His) c.1096G>C (p.Asp366His) c.838G>C (p.Asp280His) c.997G>C (p.Asp333His) | |
| 15 | g.38351389G>T | CA391933968 | SPRED1 | c.1060G>T (p.Asp354Tyr) c.1096G>T (p.Asp366Tyr) c.838G>T (p.Asp280Tyr) c.997G>T (p.Asp333Tyr) | COSMIC |
| 15 | g.38351390A>C | CA391933970 | SPRED1 | c.1061A>C (p.Asp354Ala) c.1097A>C (p.Asp366Ala) c.839A>C (p.Asp280Ala) c.998A>C (p.Asp333Ala) | |
| 15 | g.38351390A>G | CA391933971 | SPRED1 | c.1061A>G (p.Asp354Gly) c.1097A>G (p.Asp366Gly) c.839A>G (p.Asp280Gly) c.998A>G (p.Asp333Gly) | |
| 15 | g.38351390A>T | CA391933973 | SPRED1 | c.1061A>T (p.Asp354Val) c.1097A>T (p.Asp366Val) c.839A>T (p.Asp280Val) c.998A>T (p.Asp333Val) | |
| 15 | g.38351391del | CA2573053987 | SPRED1 | c.1062del (p.Asp354GlufsTer?) c.1098del (p.Asp366GlufsTer?) c.840del (p.Asp280GlufsTer?) c.999del (p.Asp333GlufsTer?) | ClinVar dbSNP |