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 |
|---|---|---|---|---|---|
| 13 | g.110166277C>A | CA388660626 | COL4A1 | c.3976G>T (p.Gly1326Ter) c.132G>T c.3784G>T (p.Gly1262Ter) | |
| 13 | g.110166277C= | CA2118729908 | COL4A1 | c.3976G= (p.Gly1326=) c.132G= c.3784G= (p.Gly1262=) | |
| 13 | g.110166277C>G | CA388660628 | COL4A1 | c.3976G>C (p.Gly1326Arg) c.132G>C c.3784G>C (p.Gly1262Arg) | |
| 13 | g.110166277C>T | CA156200 | COL4A1 | c.3976G>A (p.Gly1326Arg) c.132G>A c.3784G>A (p.Gly1262Arg) | ClinVar dbSNP |
| 13 | g.110166278C>A | CA388660657 | COL4A1 | c.3975G>T (p.Gln1325His) c.131G>T c.3783G>T (p.Gln1261His) | |
| 13 | g.110166278C>G | CA388660658 | COL4A1 | c.3975G>C (p.Gln1325His) c.131G>C c.3783G>C (p.Gln1261His) | |
| 13 | g.110166278C>T | CA484788610 | COL4A1 | c.3975G>A (p.Gln1325=) c.131G>A c.3783G>A (p.Gln1261=) | |
| 13 | g.110166279T>A | CA388660661 | COL4A1 | c.3974A>T (p.Gln1325Leu) c.130A>T c.3782A>T (p.Gln1261Leu) | |
| 13 | g.110166279T>C | CA388660663 | COL4A1 | c.3974A>G (p.Gln1325Arg) c.130A>G c.3782A>G (p.Gln1261Arg) | |
| 13 | g.110166279T>G | CA388660662 | COL4A1 | c.3974A>C (p.Gln1325Pro) c.130A>C c.3782A>C (p.Gln1261Pro) | |
| 13 | g.110166280G>A | CA388660664 | COL4A1 | c.3973C>T (p.Gln1325Ter) c.129C>T c.3781C>T (p.Gln1261Ter) | |
| 13 | g.110166280G>C | CA388660665 | COL4A1 | c.3973C>G (p.Gln1325Glu) c.129C>G c.3781C>G (p.Gln1261Glu) | |
| 13 | g.110166280G>T | CA388660666 | COL4A1 | c.3973C>A (p.Gln1325Lys) c.129C>A c.3781C>A (p.Gln1261Lys) | |
| 13 | g.110166281del | CA2623642452 | COL4A1 | c.3973del (p.Gln1325ArgfsTer?) c.129del c.3781del (p.Gln1261ArgfsTer?) | gnomAD v4 |
| 13 | g.110166281G>A | CA7047073 | COL4A1 | c.3972C>T (p.Leu1324=) c.128C>T c.3780C>T (p.Leu1260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110166281G>C | CA484788612 | COL4A1 | c.3972C>G (p.Leu1324=) c.128C>G c.3780C>G (p.Leu1260=) | |
| 13 | g.110166281G= | CA2118729918 | COL4A1 | c.3972C= (p.Leu1324=) c.128C= c.3780C= (p.Leu1260=) | |
| 13 | g.110166281G>T | CA484788611 | COL4A1 | c.3972C>A (p.Leu1324=) c.128C>A c.3780C>A (p.Leu1260=) | |
| 13 | g.110166282del | CA2623642453 | COL4A1 | c.3971del (p.Leu1324ProfsTer?) c.127del c.3779del (p.Leu1260ProfsTer?) | gnomAD v4 |
| 13 | g.110166282A>C | CA388660669 | COL4A1 | c.3971T>G (p.Leu1324Arg) c.127T>G c.3779T>G (p.Leu1260Arg) | |
| 13 | g.110166282A>G | CA388660670 | COL4A1 | c.3971T>C (p.Leu1324Pro) c.127T>C c.3779T>C (p.Leu1260Pro) | |
| 13 | g.110166282A>T | CA388660672 | COL4A1 | c.3971T>A (p.Leu1324His) c.127T>A c.3779T>A (p.Leu1260His) | |
| 13 | g.110166283G>A | CA388660674 | COL4A1 | c.3970C>T (p.Leu1324Phe) c.126C>T c.3778C>T (p.Leu1260Phe) | |
| 13 | g.110166283G>C | CA388660676 | COL4A1 | c.3970C>G (p.Leu1324Val) c.126C>G c.3778C>G (p.Leu1260Val) | |
| 13 | g.110166283G>T | CA388660677 | COL4A1 | c.3970C>A (p.Leu1324Ile) c.126C>A c.3778C>A (p.Leu1260Ile) | gnomAD v4 |
| 13 | g.110166284G>A | CA484788613 | COL4A1 | c.3969C>T (p.Gly1323=) c.125C>T c.3777C>T (p.Gly1259=) | |
| 13 | g.110166284G>C | CA484788614 | COL4A1 | c.3969C>G (p.Gly1323=) c.125C>G c.3777C>G (p.Gly1259=) | |
| 13 | g.110166284G>T | CA484788615 | COL4A1 | c.3969C>A (p.Gly1323=) c.125C>A c.3777C>A (p.Gly1259=) | gnomAD v4 |
| 13 | g.110166285C>A | CA388660680 | COL4A1 | c.3968G>T (p.Gly1323Val) c.124G>T c.3776G>T (p.Gly1259Val) | |
| 13 | g.110166285C>G | CA388660681 | COL4A1 | c.3968G>C (p.Gly1323Ala) c.124G>C c.3776G>C (p.Gly1259Ala) | |
| 13 | g.110166285C>T | CA388660678 | COL4A1 | c.3968G>A (p.Gly1323Asp) c.124G>A c.3776G>A (p.Gly1259Asp) | |
| 13 | g.110166286del | CA2623642454 | COL4A1 | c.3968del (p.Gly1323AlafsTer?) c.124del c.3776del (p.Gly1259AlafsTer?) | gnomAD v4 |
| 13 | g.110166286C>A | CA388660683 | COL4A1 | c.3967G>T (p.Gly1323Cys) c.123G>T c.3775G>T (p.Gly1259Cys) | |
| 13 | g.110166286C>G | CA388660684 | COL4A1 | c.3967G>C (p.Gly1323Arg) c.123G>C c.3775G>C (p.Gly1259Arg) | |
| 13 | g.110166286C>T | CA388660686 | COL4A1 | c.3967G>A (p.Gly1323Ser) c.123G>A c.3775G>A (p.Gly1259Ser) | COSMIC COSMIC |
| 13 | g.110166287A>C | CA484788616 | COL4A1 | c.3966T>G (p.Pro1322=) c.122T>G c.3774T>G (p.Pro1258=) | |
| 13 | g.110166287A>G | CA484788618 | COL4A1 | c.3966T>C (p.Pro1322=) c.122T>C c.3774T>C (p.Pro1258=) | gnomAD v4 |
| 13 | g.110166287A>T | CA484788617 | COL4A1 | c.3966T>A (p.Pro1322=) c.122T>A c.3774T>A (p.Pro1258=) | |
| 13 | g.110166288G>A | CA7047074 | COL4A1 | c.3965C>T (p.Pro1322Leu) c.121C>T c.3773C>T (p.Pro1258Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110166288G>C | CA388660688 | COL4A1 | c.3965C>G (p.Pro1322Arg) c.121C>G c.3773C>G (p.Pro1258Arg) | |
| 13 | g.110166288G= | CA2118729920 | COL4A1 | c.3965C= (p.Pro1322=) c.121C= c.3773C= (p.Pro1258=) | |
| 13 | g.110166288G>T | CA388660689 | COL4A1 | c.3965C>A (p.Pro1322His) c.121C>A c.3773C>A (p.Pro1258His) | |
| 13 | g.110166289G>A | CA7047075 | COL4A1 | c.3964C>T (p.Pro1322Ser) c.120C>T c.3772C>T (p.Pro1258Ser) | dbSNP ExAC gnomAD v2 |
| 13 | g.110166289G>C | CA388660691 | COL4A1 | c.3964C>G (p.Pro1322Ala) c.120C>G c.3772C>G (p.Pro1258Ala) | |
| 13 | g.110166289G= | CA2118729922 | COL4A1 | c.3964C= (p.Pro1322=) c.120C= c.3772C= (p.Pro1258=) | |
| 13 | g.110166289G>T | CA388660693 | COL4A1 | c.3964C>A (p.Pro1322Thr) c.120C>A c.3772C>A (p.Pro1258Thr) | |
| 13 | g.110166290A>C | CA484788619 | COL4A1 | c.3963T>G (p.Leu1321=) c.119T>G c.3771T>G (p.Leu1257=) | |
| 13 | g.110166290A>G | CA484788620 | COL4A1 | c.3963T>C (p.Leu1321=) c.119T>C c.3771T>C (p.Leu1257=) | |
| 13 | g.110166290A>T | CA484788621 | COL4A1 | c.3963T>A (p.Leu1321=) c.119T>A c.3771T>A (p.Leu1257=) | |
| 13 | g.110166291A>C | CA388660695 | COL4A1 | c.3962T>G (p.Leu1321Arg) c.118T>G c.3770T>G (p.Leu1257Arg) |