UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108578098C>A | CA413923646 | COL4A5 | c.666C>A (p.Phe222Leu) c.342C>A (p.Phe114Leu) c.681C>A (p.Phe227Leu) | |
| X | g.108578098C>G | CA413923651 | COL4A5 | c.666C>G (p.Phe222Leu) c.342C>G (p.Phe114Leu) c.681C>G (p.Phe227Leu) | gnomAD v4 |
| X | g.108578098C>T | CA517991755 | COL4A5 | c.666C>T (p.Phe222=) c.342C>T (p.Phe114=) c.681C>T (p.Phe227=) | gnomAD v4 COSMIC COSMIC |
| X | g.108578099C>A | CA413923655 | COL4A5 | c.667C>A (p.Gln223Lys) c.343C>A (p.Gln115Lys) c.682C>A (p.Gln228Lys) | |
| X | g.108578099C= | CA2450682226 | COL4A5 | c.667C= (p.Gln223=) c.343C= (p.Gln115=) c.682C= (p.Gln228=) | |
| X | g.108578099C>G | CA413923663 | COL4A5 | c.667C>G (p.Gln223Glu) c.343C>G (p.Gln115Glu) c.682C>G (p.Gln228Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108578099C>T | CA413923669 | COL4A5 | c.667C>T (p.Gln223Ter) c.343C>T (p.Gln115Ter) c.682C>T (p.Gln228Ter) | |
| X | g.108578100del | CA2579675938 | COL4A5 | c.668del (p.Gln223ArgfsTer?) c.344del (p.Gln115ArgfsTer?) c.683del (p.Gln228ArgfsTer?) | |
| X | g.108578100A>C | CA413923671 | COL4A5 | c.668A>C (p.Gln223Pro) c.344A>C (p.Gln115Pro) c.683A>C (p.Gln228Pro) | |
| X | g.108578100A>G | CA413923672 | COL4A5 | c.668A>G (p.Gln223Arg) c.344A>G (p.Gln115Arg) c.683A>G (p.Gln228Arg) | gnomAD v4 |
| X | g.108578100A>T | CA413923673 | COL4A5 | c.668A>T (p.Gln223Leu) c.344A>T (p.Gln115Leu) c.683A>T (p.Gln228Leu) | |
| X | g.108578101G>A | CA517991756 | COL4A5 | c.669G>A (p.Gln223=) c.345G>A (p.Gln115=) c.684G>A (p.Gln228=) | |
| X | g.108578101G>C | CA413923674 | COL4A5 | c.669G>C (p.Gln223His) c.345G>C (p.Gln115His) c.684G>C (p.Gln228His) | |
| X | g.108578101G>T | CA413923677 | COL4A5 | c.669G>T (p.Gln223His) c.345G>T (p.Gln115His) c.684G>T (p.Gln228His) | |
| X | g.108578102G>A | CA413923680 | COL4A5 | c.670G>A (p.Gly224Arg) c.346G>A (p.Gly116Arg) c.685G>A (p.Gly229Arg) | ClinVar dbSNP |
| X | g.108578102G>C | CA413923684 | COL4A5 | c.670G>C (p.Gly224Arg) c.346G>C (p.Gly116Arg) c.685G>C (p.Gly229Arg) | |
| X | g.108578102G>T | CA413923682 | COL4A5 | c.670G>T (p.Gly224Ter) c.346G>T (p.Gly116Ter) c.685G>T (p.Gly229Ter) | |
| X | g.108578103G>A | CA413923691 | COL4A5 | c.671G>A (p.Gly224Glu) c.347G>A (p.Gly116Glu) c.686G>A (p.Gly229Glu) | |
| X | g.108578103G>C | CA413923693 | COL4A5 | c.671G>C (p.Gly224Ala) c.347G>C (p.Gly116Ala) c.686G>C (p.Gly229Ala) | |
| X | g.108578103G>T | CA413923698 | COL4A5 | c.671G>T (p.Gly224Val) c.347G>T (p.Gly116Val) c.686G>T (p.Gly229Val) | ClinVar dbSNP |
| X | g.108578104A>C | CA517991758 | COL4A5 | c.672A>C (p.Gly224=) c.348A>C (p.Gly116=) c.687A>C (p.Gly229=) | |
| X | g.108578104A>G | CA517991759 | COL4A5 | c.672A>G (p.Gly224=) c.348A>G (p.Gly116=) c.687A>G (p.Gly229=) | |
| X | g.108578104A>T | CA517991757 | COL4A5 | c.672A>T (p.Gly224=) c.348A>T (p.Gly116=) c.687A>T (p.Gly229=) | |
| X | g.108578105C>A | CA413923710 | COL4A5 | c.673C>A (p.Pro225Thr) c.349C>A (p.Pro117Thr) c.688C>A (p.Pro230Thr) | |
| X | g.108578105C>G | CA413923723 | COL4A5 | c.673C>G (p.Pro225Ala) c.349C>G (p.Pro117Ala) c.688C>G (p.Pro230Ala) | |
| X | g.108578105C>T | CA413923726 | COL4A5 | c.673C>T (p.Pro225Ser) c.349C>T (p.Pro117Ser) c.688C>T (p.Pro230Ser) | gnomAD v4 |
| X | g.108578107del | CA913184895 | COL4A5 | c.675del (p.Gly227ValfsTer27) c.351del (p.Gly119ValfsTer27) c.690del (p.Gly232ValfsTer27) | |
| X | g.108578106C>A | CA413923729 | COL4A5 | c.674C>A (p.Pro225His) c.350C>A (p.Pro117His) c.689C>A (p.Pro230His) | |
| X | g.108578106C= | CA2450682227 | COL4A5 | c.674C= (p.Pro225=) c.350C= (p.Pro117=) c.689C= (p.Pro230=) | |
| X | g.108578106C>G | CA413923731 | COL4A5 | c.674C>G (p.Pro225Arg) c.350C>G (p.Pro117Arg) c.689C>G (p.Pro230Arg) | |
| X | g.108578106C>T | CA413923740 | COL4A5 | c.674C>T (p.Pro225Leu) c.350C>T (p.Pro117Leu) c.689C>T (p.Pro230Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108578107C>A | CA517991760 | COL4A5 | c.675C>A (p.Pro225=) c.351C>A (p.Pro117=) c.690C>A (p.Pro230=) | |
| X | g.108578107C>G | CA517991761 | COL4A5 | c.675C>G (p.Pro225=) c.351C>G (p.Pro117=) c.690C>G (p.Pro230=) | |
| X | g.108578107C>T | CA517991762 | COL4A5 | c.675C>T (p.Pro225=) c.351C>T (p.Pro117=) c.690C>T (p.Pro230=) | |
| X | g.108578108A>C | CA413923751 | COL4A5 | c.676A>C (p.Lys226Gln) c.352A>C (p.Lys118Gln) c.691A>C (p.Lys231Gln) | |
| X | g.108578108A>G | CA413923748 | COL4A5 | c.676A>G (p.Lys226Glu) c.352A>G (p.Lys118Glu) c.691A>G (p.Lys231Glu) | |
| X | g.108578108A>T | CA413923744 | COL4A5 | c.676A>T (p.Lys226Ter) c.352A>T (p.Lys118Ter) c.691A>T (p.Lys231Ter) | |
| X | g.108578109A= | CA2450682228 | COL4A5 | c.677A= (p.Lys226=) c.353A= (p.Lys118=) c.692A= (p.Lys231=) | |
| X | g.108578109A>C | CA334180231 | COL4A5 | c.677A>C (p.Lys226Thr) c.353A>C (p.Lys118Thr) c.692A>C (p.Lys231Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578109A>G | CA413923754 | COL4A5 | c.677A>G (p.Lys226Arg) c.353A>G (p.Lys118Arg) c.692A>G (p.Lys231Arg) | |
| X | g.108578109A>T | CA413923760 | COL4A5 | c.677A>T (p.Lys226Ile) c.353A>T (p.Lys118Ile) c.692A>T (p.Lys231Ile) | |
| X | g.108578110A>C | CA413923761 | COL4A5 | c.678A>C (p.Lys226Asn) c.354A>C (p.Lys118Asn) c.693A>C (p.Lys231Asn) | |
| X | g.108578110A>G | CA517991763 | COL4A5 | c.678A>G (p.Lys226=) c.354A>G (p.Lys118=) c.693A>G (p.Lys231=) | |
| X | g.108578110A>T | CA413923766 | COL4A5 | c.678A>T (p.Lys226Asn) c.354A>T (p.Lys118Asn) c.693A>T (p.Lys231Asn) | |
| X | g.108578111G>A | CA413923773 | COL4A5 | c.679G>A (p.Gly227Ser) c.355G>A (p.Gly119Ser) c.694G>A (p.Gly232Ser) | ClinVar dbSNP COSMIC |
| X | g.108578111G>C | CA413923770 | COL4A5 | c.679G>C (p.Gly227Arg) c.355G>C (p.Gly119Arg) c.694G>C (p.Gly232Arg) | |
| X | g.108578111G= | CA2450682229 | COL4A5 | c.679G= (p.Gly227=) c.355G= (p.Gly119=) c.694G= (p.Gly232=) | |
| X | g.108578111G>T | CA413923768 | COL4A5 | c.679G>T (p.Gly227Cys) c.355G>T (p.Gly119Cys) c.694G>T (p.Gly232Cys) | COSMIC |
| X | g.108578112G>A | CA413923781 | COL4A5 | c.680G>A (p.Gly227Asp) c.356G>A (p.Gly119Asp) c.695G>A (p.Gly232Asp) | |
| X | g.108578112G>C | CA413923795 | COL4A5 | c.680G>C (p.Gly227Ala) c.356G>C (p.Gly119Ala) c.695G>C (p.Gly232Ala) |