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.108581014A>C | CA413926984 | COL4A5 | c.923A>C (p.Gln308Pro) c.599A>C (p.Gln200Pro) c.938A>C (p.Gln313Pro) | |
| X | g.108581014A>G | CA413926983 | COL4A5 | c.923A>G (p.Gln308Arg) c.599A>G (p.Gln200Arg) c.938A>G (p.Gln313Arg) | |
| X | g.108581014A>T | CA413926982 | COL4A5 | c.923A>T (p.Gln308Leu) c.599A>T (p.Gln200Leu) c.938A>T (p.Gln313Leu) | |
| X | g.108581015A>C | CA413926985 | COL4A5 | c.924A>C (p.Gln308His) c.600A>C (p.Gln200His) c.939A>C (p.Gln313His) | |
| X | g.108581015A>G | CA517991936 | COL4A5 | c.924A>G (p.Gln308=) c.600A>G (p.Gln200=) c.939A>G (p.Gln313=) | |
| X | g.108581015A>T | CA413926986 | COL4A5 | c.924A>T (p.Gln308His) c.600A>T (p.Gln200His) c.939A>T (p.Gln313His) | |
| X | g.108581016C>A | CA413926988 | COL4A5 | c.925C>A (p.Pro309Thr) c.601C>A (p.Pro201Thr) c.940C>A (p.Pro314Thr) | |
| X | g.108581016C= | CA2450683198 | COL4A5 | c.925C= (p.Pro309=) c.601C= (p.Pro201=) c.940C= (p.Pro314=) | |
| X | g.108581016C>G | CA413926990 | COL4A5 | c.925C>G (p.Pro309Ala) c.601C>G (p.Pro201Ala) c.940C>G (p.Pro314Ala) | |
| X | g.108581016C>T | CA10488620 | COL4A5 | c.925C>T (p.Pro309Ser) c.601C>T (p.Pro201Ser) c.940C>T (p.Pro314Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108581017C>A | CA413926997 | COL4A5 | c.926C>A (p.Pro309Gln) c.602C>A (p.Pro201Gln) c.941C>A (p.Pro314Gln) | |
| X | g.108581017C= | CA2450683199 | COL4A5 | c.926C= (p.Pro309=) c.602C= (p.Pro201=) c.941C= (p.Pro314=) | |
| X | g.108581017C>G | CA10488621 | COL4A5 | c.926C>G (p.Pro309Arg) c.602C>G (p.Pro201Arg) c.941C>G (p.Pro314Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108581017C>T | CA413927001 | COL4A5 | c.926C>T (p.Pro309Leu) c.602C>T (p.Pro201Leu) c.941C>T (p.Pro314Leu) | |
| X | g.108581018A>C | CA517991937 | COL4A5 | c.927A>C (p.Pro309=) c.603A>C (p.Pro201=) c.942A>C (p.Pro314=) | |
| X | g.108581018A>G | CA517991938 | COL4A5 | c.927A>G (p.Pro309=) c.603A>G (p.Pro201=) c.942A>G (p.Pro314=) | ClinVar |
| X | g.108581018A>T | CA517991939 | COL4A5 | c.927A>T (p.Pro309=) c.603A>T (p.Pro201=) c.942A>T (p.Pro314=) | |
| X | g.108581019G>A | CA258359 | COL4A5 | c.928G>A (p.Gly310Arg) c.604G>A (p.Gly202Arg) c.943G>A (p.Gly315Arg) | ClinVar dbSNP |
| X | g.108581019G>C | CA413927016 | COL4A5 | c.928G>C (p.Gly310Arg) c.604G>C (p.Gly202Arg) c.943G>C (p.Gly315Arg) | |
| X | g.108581019G= | CA2450683200 | COL4A5 | c.928G= (p.Gly310=) c.604G= (p.Gly202=) c.943G= (p.Gly315=) | |
| X | g.108581019G>T | CA413927022 | COL4A5 | c.928G>T (p.Gly310Ter) c.604G>T (p.Gly202Ter) c.943G>T (p.Gly315Ter) | |
| X | g.108581020G>A | CA413927026 | COL4A5 | c.929G>A (p.Gly310Glu) c.605G>A (p.Gly202Glu) c.944G>A (p.Gly315Glu) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108581020G>C | CA413927035 | COL4A5 | c.929G>C (p.Gly310Ala) c.605G>C (p.Gly202Ala) c.944G>C (p.Gly315Ala) | |
| X | g.108581020G= | CA2450683201 | COL4A5 | c.929G= (p.Gly310=) c.605G= (p.Gly202=) c.944G= (p.Gly315=) | |
| X | g.108581020G>T | CA413927039 | COL4A5 | c.929G>T (p.Gly310Val) c.605G>T (p.Gly202Val) c.944G>T (p.Gly315Val) | ClinVar dbSNP |
| X | g.108581021A>C | CA517991940 | COL4A5 | c.930A>C (p.Gly310=) c.606A>C (p.Gly202=) c.945A>C (p.Gly315=) | |
| X | g.108581021A>G | CA517991941 | COL4A5 | c.930A>G (p.Gly310=) c.606A>G (p.Gly202=) c.945A>G (p.Gly315=) | |
| X | g.108581021A>T | CA517991942 | COL4A5 | c.930A>T (p.Gly310=) c.606A>T (p.Gly202=) c.945A>T (p.Gly315=) | |
| X | g.108581022A= | CA2450683202 | COL4A5 | c.931A= (p.Ile311=) c.607A= (p.Ile203=) c.946A= (p.Ile316=) | |
| X | g.108581022A>C | CA413927047 | COL4A5 | c.931A>C (p.Ile311Leu) c.607A>C (p.Ile203Leu) c.946A>C (p.Ile316Leu) | |
| X | g.108581022A>G | CA413927050 | COL4A5 | c.931A>G (p.Ile311Val) c.607A>G (p.Ile203Val) c.946A>G (p.Ile316Val) | dbSNP gnomAD v4 |
| X | g.108581022A>T | CA413927045 | COL4A5 | c.931A>T (p.Ile311Phe) c.607A>T (p.Ile203Phe) c.946A>T (p.Ile316Phe) | |
| X | g.108581023T>A | CA413927055 | COL4A5 | c.932T>A (p.Ile311Asn) c.608T>A (p.Ile203Asn) c.947T>A (p.Ile316Asn) | |
| X | g.108581023T>C | CA413927058 | COL4A5 | c.932T>C (p.Ile311Thr) c.608T>C (p.Ile203Thr) c.947T>C (p.Ile316Thr) | |
| X | g.108581023T>G | CA413927061 | COL4A5 | c.932T>G (p.Ile311Ser) c.608T>G (p.Ile203Ser) c.947T>G (p.Ile316Ser) | |
| X | g.108581024T>A | CA517991943 | COL4A5 | c.933T>A (p.Ile311=) c.609T>A (p.Ile203=) c.948T>A (p.Ile316=) | |
| X | g.108581024T>C | CA517991944 | COL4A5 | c.933T>C (p.Ile311=) c.609T>C (p.Ile203=) c.948T>C (p.Ile316=) | |
| X | g.108581024T>G | CA413927066 | COL4A5 | c.933T>G (p.Ile311Met) c.609T>G (p.Ile203Met) c.948T>G (p.Ile316Met) | |
| X | g.108581024_108581025delinsTC | CA2450683203 | COL4A5 | c.933_934delinsTC (p.Ile311=) c.609_610delinsTC (p.Ile203=) c.948_949delinsTC (p.Ile316=) | |
| X | g.108581025C>A | CA413927070 | COL4A5 | c.934C>A (p.Pro312Thr) c.610C>A (p.Pro204Thr) c.949C>A (p.Pro317Thr) | gnomAD v4 |
| X | g.108581025C>G | CA413927073 | COL4A5 | c.934C>G (p.Pro312Ala) c.610C>G (p.Pro204Ala) c.949C>G (p.Pro317Ala) | |
| X | g.108581025C>T | CA413927075 | COL4A5 | c.934C>T (p.Pro312Ser) c.610C>T (p.Pro204Ser) c.949C>T (p.Pro317Ser) | COSMIC COSMIC |
| X | g.108581026del | CA658656860 | COL4A5 | c.935del (p.Pro312LeufsTer?) c.611del (p.Pro204LeufsTer?) c.950del (p.Pro317LeufsTer?) | ClinVar dbSNP |
| X | g.108581026C>A | CA413927077 | COL4A5 | c.935C>A (p.Pro312His) c.611C>A (p.Pro204His) c.950C>A (p.Pro317His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108581026C= | CA2450683204 | COL4A5 | c.935C= (p.Pro312=) c.611C= (p.Pro204=) c.950C= (p.Pro317=) | |
| X | g.108581026C>G | CA413927080 | COL4A5 | c.935C>G (p.Pro312Arg) c.611C>G (p.Pro204Arg) c.950C>G (p.Pro317Arg) | |
| X | g.108581026C>T | CA413927084 | COL4A5 | c.935C>T (p.Pro312Leu) c.611C>T (p.Pro204Leu) c.950C>T (p.Pro317Leu) | |
| X | g.108581027T>A | CA517991945 | COL4A5 | c.936T>A (p.Pro312=) c.612T>A (p.Pro204=) c.951T>A (p.Pro317=) | |
| X | g.108581027T>C | CA517991946 | COL4A5 | c.936T>C (p.Pro312=) c.612T>C (p.Pro204=) c.951T>C (p.Pro317=) | |
| X | g.108581027T>G | CA517991947 | COL4A5 | c.936T>G (p.Pro312=) c.612T>G (p.Pro204=) c.951T>G (p.Pro317=) |