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.108580558C>A | CA413925710 | COL4A5 | c.806C>A (p.Pro269His) c.482C>A (p.Pro161His) c.821C>A (p.Pro274His) | |
| X | g.108580558C>G | CA413925709 | COL4A5 | c.806C>G (p.Pro269Arg) c.482C>G (p.Pro161Arg) c.821C>G (p.Pro274Arg) | |
| X | g.108580558C>T | CA413925705 | COL4A5 | c.806C>T (p.Pro269Leu) c.482C>T (p.Pro161Leu) c.821C>T (p.Pro274Leu) | |
| X | g.108580559T>A | CA517991851 | COL4A5 | c.807T>A (p.Pro269=) c.483T>A (p.Pro161=) c.822T>A (p.Pro274=) | |
| X | g.108580559T>C | CA517991850 | COL4A5 | c.807T>C (p.Pro269=) c.483T>C (p.Pro161=) c.822T>C (p.Pro274=) | |
| X | g.108580559T>G | CA517991849 | COL4A5 | c.807T>G (p.Pro269=) c.483T>G (p.Pro161=) c.822T>G (p.Pro274=) | |
| X | g.108580560G>A | CA413925713 | COL4A5 | c.808G>A (p.Gly270Arg) c.484G>A (p.Gly162Arg) c.823G>A (p.Gly275Arg) | ClinVar dbSNP |
| X | g.108580560G>C | CA413925717 | COL4A5 | c.808G>C (p.Gly270Arg) c.484G>C (p.Gly162Arg) c.823G>C (p.Gly275Arg) | |
| X | g.108580560G= | CA2450683027 | COL4A5 | c.808G= (p.Gly270=) c.484G= (p.Gly162=) c.823G= (p.Gly275=) | |
| X | g.108580560G>T | CA413925714 | COL4A5 | c.808G>T (p.Gly270Ter) c.484G>T (p.Gly162Ter) c.823G>T (p.Gly275Ter) | |
| X | g.108580561G>A | CA413925720 | COL4A5 | c.809G>A (p.Gly270Glu) c.485G>A (p.Gly162Glu) c.824G>A (p.Gly275Glu) | |
| X | g.108580561G>C | CA413925724 | COL4A5 | c.809G>C (p.Gly270Ala) c.485G>C (p.Gly162Ala) c.824G>C (p.Gly275Ala) | |
| X | g.108580561G>T | CA413925729 | COL4A5 | c.809G>T (p.Gly270Val) c.485G>T (p.Gly162Val) c.824G>T (p.Gly275Val) | |
| X | g.108580562A>C | CA517991852 | COL4A5 | c.810A>C (p.Gly270=) c.486A>C (p.Gly162=) c.825A>C (p.Gly275=) | |
| X | g.108580562A>G | CA517991853 | COL4A5 | c.810A>G (p.Gly270=) c.486A>G (p.Gly162=) c.825A>G (p.Gly275=) | |
| X | g.108580562A>T | CA517991854 | COL4A5 | c.810A>T (p.Gly270=) c.486A>T (p.Gly162=) c.825A>T (p.Gly275=) | gnomAD v4 |
| X | g.108580562_108580563delinsAC | CA2450683028 | COL4A5 | c.810_811delinsAC (p.Gly270=) c.486_487delinsAC (p.Gly162=) c.825_826delinsAC (p.Gly275=) | |
| X | g.108580563C>A | CA413925736 | COL4A5 | c.811C>A (p.Pro271Thr) c.487C>A (p.Pro163Thr) c.826C>A (p.Pro276Thr) | |
| X | g.108580563C>G | CA413925740 | COL4A5 | c.811C>G (p.Pro271Ala) c.487C>G (p.Pro163Ala) c.826C>G (p.Pro276Ala) | |
| X | g.108580563C>T | CA413925745 | COL4A5 | c.811C>T (p.Pro271Ser) c.487C>T (p.Pro163Ser) c.826C>T (p.Pro276Ser) | gnomAD v4 |
| X | g.108580564del | CA258331 | COL4A5 | c.812del (p.Pro271LeufsTer?) c.488del (p.Pro163LeufsTer?) c.827del (p.Pro276LeufsTer?) | dbSNP |
| X | g.108580564C>A | CA413925750 | COL4A5 | c.812C>A (p.Pro271His) c.488C>A (p.Pro163His) c.827C>A (p.Pro276His) | gnomAD v4 |
| X | g.108580564C>G | CA413925754 | COL4A5 | c.812C>G (p.Pro271Arg) c.488C>G (p.Pro163Arg) c.827C>G (p.Pro276Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108580564C>T | CA413925756 | COL4A5 | c.812C>T (p.Pro271Leu) c.488C>T (p.Pro163Leu) c.827C>T (p.Pro276Leu) | |
| X | g.108580565T>A | CA517991855 | COL4A5 | c.813T>A (p.Pro271=) c.489T>A (p.Pro163=) c.828T>A (p.Pro276=) | |
| X | g.108580565T>C | CA517991856 | COL4A5 | c.813T>C (p.Pro271=) c.489T>C (p.Pro163=) c.828T>C (p.Pro276=) | |
| X | g.108580565T>G | CA517991857 | COL4A5 | c.813T>G (p.Pro271=) c.489T>G (p.Pro163=) c.828T>G (p.Pro276=) | |
| X | g.108580566C>A | CA413925769 | COL4A5 | c.814C>A (p.Pro272Thr) c.490C>A (p.Pro164Thr) c.829C>A (p.Pro277Thr) | |
| X | g.108580566C>G | CA413925773 | COL4A5 | c.814C>G (p.Pro272Ala) c.490C>G (p.Pro164Ala) c.829C>G (p.Pro277Ala) | |
| X | g.108580566C>T | CA413925775 | COL4A5 | c.814C>T (p.Pro272Ser) c.490C>T (p.Pro164Ser) c.829C>T (p.Pro277Ser) | gnomAD v4 |
| X | g.108580567C>A | CA413925788 | COL4A5 | c.815C>A (p.Pro272Gln) c.491C>A (p.Pro164Gln) c.830C>A (p.Pro277Gln) | |
| X | g.108580567C>G | CA413925805 | COL4A5 | c.815C>G (p.Pro272Arg) c.491C>G (p.Pro164Arg) c.830C>G (p.Pro277Arg) | |
| X | g.108580567C>T | CA413925802 | COL4A5 | c.815C>T (p.Pro272Leu) c.491C>T (p.Pro164Leu) c.830C>T (p.Pro277Leu) | |
| X | g.108580568A>C | CA517991860 | COL4A5 | c.816A>C (p.Pro272=) c.492A>C (p.Pro164=) c.831A>C (p.Pro277=) | |
| X | g.108580568A>G | CA517991859 | COL4A5 | c.816A>G (p.Pro272=) c.492A>G (p.Pro164=) c.831A>G (p.Pro277=) | ClinVar |
| X | g.108580568A>T | CA517991858 | COL4A5 | c.816A>T (p.Pro272=) c.492A>T (p.Pro164=) c.831A>T (p.Pro277=) | |
| X | g.108580569G>A | CA413925811 | COL4A5 | c.817G>A (p.Gly273Arg) c.493G>A (p.Gly165Arg) c.832G>A (p.Gly278Arg) | ClinVar |
| X | g.108580569G>C | CA413925813 | COL4A5 | c.817G>C (p.Gly273Arg) c.493G>C (p.Gly165Arg) c.832G>C (p.Gly278Arg) | |
| X | g.108580569G>T | CA413925816 | COL4A5 | c.817G>T (p.Gly273Trp) c.493G>T (p.Gly165Trp) c.832G>T (p.Gly278Trp) | |
| X | g.108580570G>A | CA413925819 | COL4A5 | c.818G>A (p.Gly273Glu) c.494G>A (p.Gly165Glu) c.833G>A (p.Gly278Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108580570G>C | CA413925820 | COL4A5 | c.818G>C (p.Gly273Ala) c.494G>C (p.Gly165Ala) c.833G>C (p.Gly278Ala) | |
| X | g.108580570G>T | CA413925825 | COL4A5 | c.818G>T (p.Gly273Val) c.494G>T (p.Gly165Val) c.833G>T (p.Gly278Val) | |
| X | g.108580571G>A | CA334180624 | COL4A5 | c.819G>A (p.Gly273=) c.495G>A (p.Gly165=) c.834G>A (p.Gly278=) | dbSNP |
| X | g.108580571G>C | CA517991861 | COL4A5 | c.819G>C (p.Gly273=) c.495G>C (p.Gly165=) c.834G>C (p.Gly278=) | |
| X | g.108580571G= | CA2450683029 | COL4A5 | c.819G= (p.Gly273=) c.495G= (p.Gly165=) c.834G= (p.Gly278=) | |
| X | g.108580571G>T | CA517991862 | COL4A5 | c.819G>T (p.Gly273=) c.495G>T (p.Gly165=) c.834G>T (p.Gly278=) | ClinVar |
| X | g.108580572A>C | CA413925826 | COL4A5 | c.820A>C (p.Ile274Leu) c.496A>C (p.Ile166Leu) c.835A>C (p.Ile279Leu) | |
| X | g.108580572A>G | CA413925828 | COL4A5 | c.820A>G (p.Ile274Val) c.496A>G (p.Ile166Val) c.835A>G (p.Ile279Val) | COSMIC COSMIC |
| X | g.108580572A>T | CA413925831 | COL4A5 | c.820A>T (p.Ile274Leu) c.496A>T (p.Ile166Leu) c.835A>T (p.Ile279Leu) | |
| X | g.108580573T>A | CA413925843 | COL4A5 | c.821T>A (p.Ile274Lys) c.497T>A (p.Ile166Lys) c.836T>A (p.Ile279Lys) |