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 |
|---|---|---|---|---|---|
| X | g.108601433_108601451delinsGAAGCCTGGCTTGCCTGGT | CA2450689748 | COL4A5 | c.1989_2007delinsGAAGCCTGGCTTGCCTGGT (p.Gly663=) n.1445_1463delinsGAAGCCTGGCTTGCCTGGT c.1665_1683delinsGAAGCCTGGCTTGCCTGGT (p.Gly555=) c.2004_2022delinsGAAGCCTGGCTTGCCTGGT (p.Gly668=) c.324_342delinsGAAGCCTGGCTTGCCTGGT (p.Gly108=) | |
| X | g.108601436_108601453del | CA891843932 | COL4A5 | c.1992_2009del (p.Lys664_Gly669del) n.1448_1465del c.1668_1685del (p.Lys556_Gly561del) c.2007_2024del (p.Lys669_Gly674del) c.327_344del (p.Lys109_Gly114del) | |
| X | g.108601450del | CA2739273708 | COL4A5 | c.2006del (p.Gly669ValfsTer9) n.1462del c.1682del (p.Gly561ValfsTer9) c.2021del (p.Gly674ValfsTer9) c.341del (p.Gly114ValfsTer9) | ClinVar |
| X | g.108601450G>A | CA413846812 | COL4A5 | c.2006G>A (p.Gly669Asp) n.1462G>A c.1682G>A (p.Gly561Asp) c.2021G>A (p.Gly674Asp) c.341G>A (p.Gly114Asp) | |
| X | g.108601450G>C | CA258592 | COL4A5 | c.2006G>C (p.Gly669Ala) n.1462G>C c.1682G>C (p.Gly561Ala) c.2021G>C (p.Gly674Ala) c.341G>C (p.Gly114Ala) | dbSNP |
| X | g.108601450G= | CA2450689753 | COL4A5 | c.2006G= (p.Gly669=) n.1462G= c.1682G= (p.Gly561=) c.2021G= (p.Gly674=) c.341G= (p.Gly114=) | |
| X | g.108601450G>T | CA413846813 | COL4A5 | c.2006G>T (p.Gly669Val) n.1462G>T c.1682G>T (p.Gly561Val) c.2021G>T (p.Gly674Val) c.341G>T (p.Gly114Val) | |
| X | g.108601451T>A | CA517922626 | COL4A5 | c.2007T>A (p.Gly669=) n.1463T>A c.1683T>A (p.Gly561=) c.2022T>A (p.Gly674=) c.342T>A (p.Gly114=) | |
| X | g.108601451T>C | CA517922628 | COL4A5 | c.2007T>C (p.Gly669=) n.1463T>C c.1683T>C (p.Gly561=) c.2022T>C (p.Gly674=) c.342T>C (p.Gly114=) | |
| X | g.108601451T>G | CA517922627 | COL4A5 | c.2007T>G (p.Gly669=) n.1463T>G c.1683T>G (p.Gly561=) c.2022T>G (p.Gly674=) c.342T>G (p.Gly114=) | |
| X | g.108601451dup | CA2739273709 | COL4A5 | c.2007dup (p.Asn670Ter) n.1463dup c.1683dup (p.Asn562Ter) c.2022dup (p.Asn675Ter) c.342dup (p.Asn115Ter) | ClinVar |
| X | g.108601452A>C | CA413846814 | COL4A5 | c.2008A>C (p.Asn670His) n.1464A>C c.1684A>C (p.Asn562His) c.2023A>C (p.Asn675His) c.343A>C (p.Asn115His) | |
| X | g.108601452A>G | CA413846815 | COL4A5 | c.2008A>G (p.Asn670Asp) n.1464A>G c.1684A>G (p.Asn562Asp) c.2023A>G (p.Asn675Asp) c.343A>G (p.Asn115Asp) | |
| X | g.108601452A>T | CA413846816 | COL4A5 | c.2008A>T (p.Asn670Tyr) n.1464A>T c.1684A>T (p.Asn562Tyr) c.2023A>T (p.Asn675Tyr) c.343A>T (p.Asn115Tyr) | |
| X | g.108601453del | CA2579676353 | COL4A5 | c.2009del (p.Asn670ThrfsTer8) n.1465del c.1685del (p.Asn562ThrfsTer8) c.2024del (p.Asn675ThrfsTer8) c.344del (p.Asn115ThrfsTer8) | |
| X | g.108601453A>C | CA413846817 | COL4A5 | c.2009A>C (p.Asn670Thr) n.1465A>C c.1685A>C (p.Asn562Thr) c.2024A>C (p.Asn675Thr) c.344A>C (p.Asn115Thr) | |
| X | g.108601453A>G | CA413846818 | COL4A5 | c.2009A>G (p.Asn670Ser) n.1465A>G c.1685A>G (p.Asn562Ser) c.2024A>G (p.Asn675Ser) c.344A>G (p.Asn115Ser) | |
| X | g.108601453A>T | CA413846819 | COL4A5 | c.2009A>T (p.Asn670Ile) n.1465A>T c.1685A>T (p.Asn562Ile) c.2024A>T (p.Asn675Ile) c.344A>T (p.Asn115Ile) | |
| X | g.108601454C>A | CA334039766 | COL4A5 | c.2010C>A (p.Asn670Lys) n.1466C>A c.1686C>A (p.Asn562Lys) c.2025C>A (p.Asn675Lys) c.345C>A (p.Asn115Lys) | dbSNP |
| X | g.108601454C= | CA2450689754 | COL4A5 | c.2010C= (p.Asn670=) n.1466C= c.1686C= (p.Asn562=) c.2025C= (p.Asn675=) c.345C= (p.Asn115=) | |
| X | g.108601454C>G | CA413846820 | COL4A5 | c.2010C>G (p.Asn670Lys) n.1466C>G c.1686C>G (p.Asn562Lys) c.2025C>G (p.Asn675Lys) c.345C>G (p.Asn115Lys) | |
| X | g.108601454C>T | CA517922629 | COL4A5 | c.2010C>T (p.Asn670=) n.1466C>T c.1686C>T (p.Asn562=) c.2025C>T (p.Asn675=) c.345C>T (p.Asn115=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108601456del | CA2579676354 | COL4A5 | c.2012del (p.Pro671GlnfsTer7) n.1468del c.1688del (p.Pro563GlnfsTer7) c.2027del (p.Pro676GlnfsTer7) c.347del (p.Pro116GlnfsTer7) | |
| X | g.108601455C>A | CA413846821 | COL4A5 | c.2011C>A (p.Pro671Thr) n.1467C>A c.1687C>A (p.Pro563Thr) c.2026C>A (p.Pro676Thr) c.346C>A (p.Pro116Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108601455C= | CA2450689755 | COL4A5 | c.2011C= (p.Pro671=) n.1467C= c.1687C= (p.Pro563=) c.2026C= (p.Pro676=) c.346C= (p.Pro116=) | |
| X | g.108601455C>G | CA334039783 | COL4A5 | c.2011C>G (p.Pro671Ala) n.1467C>G c.1687C>G (p.Pro563Ala) c.2026C>G (p.Pro676Ala) c.346C>G (p.Pro116Ala) | dbSNP |
| X | g.108601455C>T | CA413846822 | COL4A5 | c.2011C>T (p.Pro671Ser) n.1467C>T c.1687C>T (p.Pro563Ser) c.2026C>T (p.Pro676Ser) c.346C>T (p.Pro116Ser) | |
| X | g.108601456C>A | CA413846825 | COL4A5 | c.2012C>A (p.Pro671Gln) n.1468C>A c.1688C>A (p.Pro563Gln) c.2027C>A (p.Pro676Gln) c.347C>A (p.Pro116Gln) | |
| X | g.108601456C>G | CA413846824 | COL4A5 | c.2012C>G (p.Pro671Arg) n.1468C>G c.1688C>G (p.Pro563Arg) c.2027C>G (p.Pro676Arg) c.347C>G (p.Pro116Arg) | |
| X | g.108601456C>T | CA413846823 | COL4A5 | c.2012C>T (p.Pro671Leu) n.1468C>T c.1688C>T (p.Pro563Leu) c.2027C>T (p.Pro676Leu) c.347C>T (p.Pro116Leu) | |
| X | g.108601457A>C | CA517922630 | COL4A5 | c.2013A>C (p.Pro671=) n.1469A>C c.1689A>C (p.Pro563=) c.2028A>C (p.Pro676=) c.348A>C (p.Pro116=) | |
| X | g.108601457A>G | CA517922631 | COL4A5 | c.2013A>G (p.Pro671=) n.1469A>G c.1689A>G (p.Pro563=) c.2028A>G (p.Pro676=) c.348A>G (p.Pro116=) | |
| X | g.108601457A>T | CA517922632 | COL4A5 | c.2013A>T (p.Pro671=) n.1469A>T c.1689A>T (p.Pro563=) c.2028A>T (p.Pro676=) c.348A>T (p.Pro116=) | |
| X | g.108601458G>A | CA413846826 | COL4A5 | c.2014G>A (p.Gly672Ser) n.1470G>A c.1690G>A (p.Gly564Ser) c.2029G>A (p.Gly677Ser) c.349G>A (p.Gly117Ser) | |
| X | g.108601458G>C | CA261069 | COL4A5 | c.2014G>C (p.Gly672Arg) n.1470G>C c.1690G>C (p.Gly564Arg) c.2029G>C (p.Gly677Arg) c.349G>C (p.Gly117Arg) | dbSNP |
| X | g.108601458G= | CA2450689756 | COL4A5 | c.2014G= (p.Gly672=) n.1470G= c.1690G= (p.Gly564=) c.2029G= (p.Gly677=) c.349G= (p.Gly117=) | |
| X | g.108601458G>T | CA413846827 | COL4A5 | c.2014G>T (p.Gly672Cys) n.1470G>T c.1690G>T (p.Gly564Cys) c.2029G>T (p.Gly677Cys) c.349G>T (p.Gly117Cys) | |
| X | g.108601459G>A | CA413846828 | COL4A5 | c.2015G>A (p.Gly672Asp) n.1471G>A c.1691G>A (p.Gly564Asp) c.2030G>A (p.Gly677Asp) c.350G>A (p.Gly117Asp) | ClinVar |
| X | g.108601459G>C | CA413846829 | COL4A5 | c.2015G>C (p.Gly672Ala) n.1471G>C c.1691G>C (p.Gly564Ala) c.2030G>C (p.Gly677Ala) c.350G>C (p.Gly117Ala) | |
| X | g.108601459G>T | CA413846830 | COL4A5 | c.2015G>T (p.Gly672Val) n.1471G>T c.1691G>T (p.Gly564Val) c.2030G>T (p.Gly677Val) c.350G>T (p.Gly117Val) | |
| X | g.108601460_108601464dup | CA2573055064 | COL4A5 | c.2016_2020dup (p.Asp674AlafsTer6) n.1472_1476dup c.1692_1696dup (p.Asp566AlafsTer6) c.2031_2035dup (p.Asp679AlafsTer6) c.351_355dup (p.Asp119AlafsTer6) | ClinVar dbSNP |
| X | g.108601460C>A | CA517922633 | COL4A5 | c.2016C>A (p.Gly672=) n.1472C>A c.1692C>A (p.Gly564=) c.2031C>A (p.Gly677=) c.351C>A (p.Gly117=) | gnomAD v4 |
| X | g.108601460C>G | CA517922634 | COL4A5 | c.2016C>G (p.Gly672=) n.1472C>G c.1692C>G (p.Gly564=) c.2031C>G (p.Gly677=) c.351C>G (p.Gly117=) | COSMIC COSMIC |
| X | g.108601460C>T | CA517922635 | COL4A5 | c.2016C>T (p.Gly672=) n.1472C>T c.1692C>T (p.Gly564=) c.2031C>T (p.Gly677=) c.351C>T (p.Gly117=) | |
| X | g.108601461A= | CA2450689758 | COL4A5 | c.2017A= (p.Arg673=) n.1473A= c.1693A= (p.Arg565=) c.2032A= (p.Arg678=) c.352A= (p.Arg118=) | |
| X | g.108601461A>C | CA517922636 | COL4A5 | c.2017A>C (p.Arg673=) n.1473A>C c.1693A>C (p.Arg565=) c.2032A>C (p.Arg678=) c.352A>C (p.Arg118=) | |
| X | g.108601461A>G | CA10488829 | COL4A5 | c.2017A>G (p.Arg673Gly) n.1473A>G c.1693A>G (p.Arg565Gly) c.2032A>G (p.Arg678Gly) c.352A>G (p.Arg118Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108601461A>T | CA413846831 | COL4A5 | c.2017A>T (p.Arg673Ter) n.1473A>T c.1693A>T (p.Arg565Ter) c.2032A>T (p.Arg678Ter) c.352A>T (p.Arg118Ter) | |
| X | g.108601461_108601462delinsAG | CA2450689757 | COL4A5 | c.2017_2018delinsAG (p.Arg673=) n.1473_1474delinsAG c.1693_1694delinsAG (p.Arg565=) c.2032_2033delinsAG (p.Arg678=) c.352_353delinsAG (p.Arg118=) | |
| X | g.108601462del | CA258594 | COL4A5 | c.2018del (p.Arg673LysfsTer5) n.1474del c.1694del (p.Arg565LysfsTer5) c.2033del (p.Arg678LysfsTer5) c.353del (p.Arg118LysfsTer5) | dbSNP |