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.108580531_108580532delinsAG | CA2450683013 | COL4A5 | c.781-2_781-1delinsAG (n.781-2_781-1delinsAG) c.457-2_457-1delinsAG (n.457-2_457-1delinsAG) c.796-2_796-1delinsAG (n.796-2_796-1delinsAG) | |
| X | g.108580531_108580538delinsAGGGACTT | CA2450683011 | COL4A5 | c.781-2_786delinsAGGGACTT c.457-2_462delinsAGGGACTT c.796-2_801delinsAGGGACTT | |
| X | g.108580532G>A | CA413925490 | COL4A5 | c.781-1G>A (n.781-1G>A) c.457-1G>A (n.457-1G>A) c.796-1G>A (n.796-1G>A) | ClinVar dbSNP |
| X | g.108580532G>C | CA413925509 | COL4A5 | c.781-1G>C (n.781-1G>C) c.457-1G>C (n.457-1G>C) c.796-1G>C (n.796-1G>C) | |
| X | g.108580532G= | CA2450683014 | COL4A5 | c.781-1G= (n.781-1G=) c.457-1G= (n.457-1G=) c.796-1G= (n.796-1G=) | |
| X | g.108580532G>T | CA413925514 | COL4A5 | c.781-1G>T (n.781-1G>T) c.457-1G>T (n.457-1G>T) c.796-1G>T (n.796-1G>T) | |
| X | g.108580534del | CA334180613 | COL4A5 | c.782del c.458del c.797del | dbSNP |
| X | g.108580532_108580538del | CA258322 | COL4A5 | c.781-1_786del c.457-1_462del c.796-1_801del | dbSNP |
| X | g.108580533G>A | CA413925526 | COL4A5 | c.781G>A (p.Gly261Arg) c.457G>A (p.Gly153Arg) c.796G>A (p.Gly266Arg) | |
| X | g.108580533G>C | CA413925517 | COL4A5 | c.781G>C (p.Gly261Arg) c.457G>C (p.Gly153Arg) c.796G>C (p.Gly266Arg) | dbSNP |
| X | g.108580533G= | CA2450683015 | COL4A5 | c.781G= (p.Gly261=) c.457G= (p.Gly153=) c.796G= (p.Gly266=) | |
| X | g.108580533G>T | CA413925521 | COL4A5 | c.781G>T (p.Gly261Ter) c.457G>T (p.Gly153Ter) c.796G>T (p.Gly266Ter) | |
| X | g.108580534G>A | CA413925528 | COL4A5 | c.782G>A (p.Gly261Glu) c.458G>A (p.Gly153Glu) c.797G>A (p.Gly266Glu) | ClinVar dbSNP |
| X | g.108580534G>C | CA413925530 | COL4A5 | c.782G>C (p.Gly261Ala) c.458G>C (p.Gly153Ala) c.797G>C (p.Gly266Ala) | |
| X | g.108580534G>T | CA413925534 | COL4A5 | c.782G>T (p.Gly261Val) c.458G>T (p.Gly153Val) c.797G>T (p.Gly266Val) | |
| X | g.108580535A>C | CA517991826 | COL4A5 | c.783A>C (p.Gly261=) c.459A>C (p.Gly153=) c.798A>C (p.Gly266=) | |
| X | g.108580535A>G | CA517991827 | COL4A5 | c.783A>G (p.Gly261=) c.459A>G (p.Gly153=) c.798A>G (p.Gly266=) | |
| X | g.108580535A>T | CA517991828 | COL4A5 | c.783A>T (p.Gly261=) c.459A>T (p.Gly153=) c.798A>T (p.Gly266=) | |
| X | g.108580536C>A | CA413925538 | COL4A5 | c.784C>A (p.Leu262Ile) c.460C>A (p.Leu154Ile) c.799C>A (p.Leu267Ile) | |
| X | g.108580536C>G | CA413925549 | COL4A5 | c.784C>G (p.Leu262Val) c.460C>G (p.Leu154Val) c.799C>G (p.Leu267Val) | |
| X | g.108580536C>T | CA413925554 | COL4A5 | c.784C>T (p.Leu262Phe) c.460C>T (p.Leu154Phe) c.799C>T (p.Leu267Phe) | |
| X | g.108580537T>A | CA413925557 | COL4A5 | c.785T>A (p.Leu262His) c.461T>A (p.Leu154His) c.800T>A (p.Leu267His) | COSMIC COSMIC |
| X | g.108580537T>C | CA413925558 | COL4A5 | c.785T>C (p.Leu262Pro) c.461T>C (p.Leu154Pro) c.800T>C (p.Leu267Pro) | |
| X | g.108580537T>G | CA413925559 | COL4A5 | c.785T>G (p.Leu262Arg) c.461T>G (p.Leu154Arg) c.800T>G (p.Leu267Arg) | |
| X | g.108580538T>A | CA517991829 | COL4A5 | c.786T>A (p.Leu262=) c.462T>A (p.Leu154=) c.801T>A (p.Leu267=) | |
| X | g.108580538T>C | CA517991830 | COL4A5 | c.786T>C (p.Leu262=) c.462T>C (p.Leu154=) c.801T>C (p.Leu267=) | |
| X | g.108580538T>G | CA517991831 | COL4A5 | c.786T>G (p.Leu262=) c.462T>G (p.Leu154=) c.801T>G (p.Leu267=) | |
| X | g.108580538T= | CA2450683017 | COL4A5 | c.786T= (p.Leu262=) c.462T= (p.Leu154=) c.801T= (p.Leu267=) | |
| X | g.108580538_108580539delinsTC | CA2450683016 | COL4A5 | c.786_787delinsTC (p.Leu262=) c.462_463delinsTC (p.Leu154=) c.801_802delinsTC (p.Leu267=) | |
| X | g.108580538_108580539insA | CA334180615 | COL4A5 | c.786_787insA (p.Pro263ThrfsTer3) c.462_463insA (p.Pro155ThrfsTer3) c.801_802insA (p.Pro268ThrfsTer3) | dbSNP |
| X | g.108580539C>A | CA413925566 | COL4A5 | c.787C>A (p.Pro263Thr) c.463C>A (p.Pro155Thr) c.802C>A (p.Pro268Thr) | |
| X | g.108580539C>G | CA413925562 | COL4A5 | c.787C>G (p.Pro263Ala) c.463C>G (p.Pro155Ala) c.802C>G (p.Pro268Ala) | |
| X | g.108580539C>T | CA413925565 | COL4A5 | c.787C>T (p.Pro263Ser) c.463C>T (p.Pro155Ser) c.802C>T (p.Pro268Ser) | gnomAD v3 gnomAD v4 |
| X | g.108580540del | CA261050 | COL4A5 | c.788del (p.Pro263LeufsTer?) c.464del (p.Pro155LeufsTer?) c.803del (p.Pro268LeufsTer?) | dbSNP |
| X | g.108580540C>A | CA413925568 | COL4A5 | c.788C>A (p.Pro263His) c.464C>A (p.Pro155His) c.803C>A (p.Pro268His) | |
| X | g.108580540C>G | CA413925570 | COL4A5 | c.788C>G (p.Pro263Arg) c.464C>G (p.Pro155Arg) c.803C>G (p.Pro268Arg) | |
| X | g.108580540C>T | CA413925574 | COL4A5 | c.788C>T (p.Pro263Leu) c.464C>T (p.Pro155Leu) c.803C>T (p.Pro268Leu) | |
| X | g.108580541T>A | CA517991832 | COL4A5 | c.789T>A (p.Pro263=) c.465T>A (p.Pro155=) c.804T>A (p.Pro268=) | |
| X | g.108580541T>C | CA517991833 | COL4A5 | c.789T>C (p.Pro263=) c.465T>C (p.Pro155=) c.804T>C (p.Pro268=) | |
| X | g.108580541T>G | CA517991834 | COL4A5 | c.789T>G (p.Pro263=) c.465T>G (p.Pro155=) c.804T>G (p.Pro268=) | |
| X | g.108580542G>A | CA413925582 | COL4A5 | c.790G>A (p.Gly264Ser) c.466G>A (p.Gly156Ser) c.805G>A (p.Gly269Ser) | |
| X | g.108580542G>C | CA258323 | COL4A5 | c.790G>C (p.Gly264Arg) c.466G>C (p.Gly156Arg) c.805G>C (p.Gly269Arg) | dbSNP |
| X | g.108580542G= | CA2450683018 | COL4A5 | c.790G= (p.Gly264=) c.466G= (p.Gly156=) c.805G= (p.Gly269=) | |
| X | g.108580542G>T | CA413925597 | COL4A5 | c.790G>T (p.Gly264Cys) c.466G>T (p.Gly156Cys) c.805G>T (p.Gly269Cys) | |
| X | g.108580543G>A | CA258325 | COL4A5 | c.791G>A (p.Gly264Asp) c.467G>A (p.Gly156Asp) c.806G>A (p.Gly269Asp) | dbSNP |
| X | g.108580543G>C | CA413925601 | COL4A5 | c.791G>C (p.Gly264Ala) c.467G>C (p.Gly156Ala) c.806G>C (p.Gly269Ala) | |
| X | g.108580543G= | CA2450683019 | COL4A5 | c.791G= (p.Gly264=) c.467G= (p.Gly156=) c.806G= (p.Gly269=) | |
| X | g.108580543G>T | CA413925603 | COL4A5 | c.791G>T (p.Gly264Val) c.467G>T (p.Gly156Val) c.806G>T (p.Gly269Val) | COSMIC COSMIC |
| X | g.108580544T>A | CA517991835 | COL4A5 | c.792T>A (p.Gly264=) c.468T>A (p.Gly156=) c.807T>A (p.Gly269=) | |
| X | g.108580544T>C | CA517991837 | COL4A5 | c.792T>C (p.Gly264=) c.468T>C (p.Gly156=) c.807T>C (p.Gly269=) |