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.108580989C>A | CA413926754 | COL4A5 | c.898C>A (p.Pro300Thr) c.574C>A (p.Pro192Thr) c.913C>A (p.Pro305Thr) | |
| X | g.108580989C>G | CA413926758 | COL4A5 | c.898C>G (p.Pro300Ala) c.574C>G (p.Pro192Ala) c.913C>G (p.Pro305Ala) | gnomAD v4 |
| X | g.108580989C>T | CA413926760 | COL4A5 | c.898C>T (p.Pro300Ser) c.574C>T (p.Pro192Ser) c.913C>T (p.Pro305Ser) | |
| X | g.108580990del | CA2694413075 | COL4A5 | c.899del (p.Pro300GlnfsTer?) c.575del (p.Pro192GlnfsTer?) c.914del (p.Pro305GlnfsTer?) | gnomAD v4 |
| X | g.108580990C>A | CA413926765 | COL4A5 | c.899C>A (p.Pro300Gln) c.575C>A (p.Pro192Gln) c.914C>A (p.Pro305Gln) | |
| X | g.108580990C= | CA2450683189 | COL4A5 | c.899C= (p.Pro300=) c.575C= (p.Pro192=) c.914C= (p.Pro305=) | |
| X | g.108580990C>G | CA413926776 | COL4A5 | c.899C>G (p.Pro300Arg) c.575C>G (p.Pro192Arg) c.914C>G (p.Pro305Arg) | |
| X | g.108580990C>T | CA10488617 | COL4A5 | c.899C>T (p.Pro300Leu) c.575C>T (p.Pro192Leu) c.914C>T (p.Pro305Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580991A>C | CA517991921 | COL4A5 | c.900A>C (p.Pro300=) c.576A>C (p.Pro192=) c.915A>C (p.Pro305=) | |
| X | g.108580991A>G | CA517991922 | COL4A5 | c.900A>G (p.Pro300=) c.576A>G (p.Pro192=) c.915A>G (p.Pro305=) | |
| X | g.108580991A>T | CA517991923 | COL4A5 | c.900A>T (p.Pro300=) c.576A>T (p.Pro192=) c.915A>T (p.Pro305=) | |
| X | g.108580992G>A | CA413926783 | COL4A5 | c.901G>A (p.Gly301Ser) c.577G>A (p.Gly193Ser) c.916G>A (p.Gly306Ser) | |
| X | g.108580992G>C | CA413926787 | COL4A5 | c.901G>C (p.Gly301Arg) c.577G>C (p.Gly193Arg) c.916G>C (p.Gly306Arg) | |
| X | g.108580992G>T | CA413926791 | COL4A5 | c.901G>T (p.Gly301Cys) c.577G>T (p.Gly193Cys) c.916G>T (p.Gly306Cys) | |
| X | g.108580993G>A | CA413926792 | COL4A5 | c.902G>A (p.Gly301Asp) c.578G>A (p.Gly193Asp) c.917G>A (p.Gly306Asp) | ClinVar dbSNP |
| X | g.108580993G>C | CA413926795 | COL4A5 | c.902G>C (p.Gly301Ala) c.578G>C (p.Gly193Ala) c.917G>C (p.Gly306Ala) | |
| X | g.108580993G= | CA2450683190 | COL4A5 | c.902G= (p.Gly301=) c.578G= (p.Gly193=) c.917G= (p.Gly306=) | |
| X | g.108580993G>T | CA413926799 | COL4A5 | c.902G>T (p.Gly301Val) c.578G>T (p.Gly193Val) c.917G>T (p.Gly306Val) | ClinVar |
| X | g.108580994C>A | CA334180728 | COL4A5 | c.903C>A (p.Gly301=) c.579C>A (p.Gly193=) c.918C>A (p.Gly306=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580994C= | CA2450683191 | COL4A5 | c.903C= (p.Gly301=) c.579C= (p.Gly193=) c.918C= (p.Gly306=) | |
| X | g.108580994C>G | CA517991925 | COL4A5 | c.903C>G (p.Gly301=) c.579C>G (p.Gly193=) c.918C>G (p.Gly306=) | |
| X | g.108580994C>T | CA517991924 | COL4A5 | c.903C>T (p.Gly301=) c.579C>T (p.Gly193=) c.918C>T (p.Gly306=) | |
| X | g.108580995A>C | CA413926806 | COL4A5 | c.904A>C (p.Lys302Gln) c.580A>C (p.Lys194Gln) c.919A>C (p.Lys307Gln) | |
| X | g.108580995A>G | CA413926808 | COL4A5 | c.904A>G (p.Lys302Glu) c.580A>G (p.Lys194Glu) c.919A>G (p.Lys307Glu) | |
| X | g.108580995A>T | CA413926803 | COL4A5 | c.904A>T (p.Lys302Ter) c.580A>T (p.Lys194Ter) c.919A>T (p.Lys307Ter) | |
| X | g.108580996A>C | CA413926812 | COL4A5 | c.905A>C (p.Lys302Thr) c.581A>C (p.Lys194Thr) c.920A>C (p.Lys307Thr) | |
| X | g.108580996A>G | CA413926817 | COL4A5 | c.905A>G (p.Lys302Arg) c.581A>G (p.Lys194Arg) c.920A>G (p.Lys307Arg) | |
| X | g.108580996A>T | CA413926819 | COL4A5 | c.905A>T (p.Lys302Ile) c.581A>T (p.Lys194Ile) c.920A>T (p.Lys307Ile) | |
| X | g.108580997A>C | CA413926822 | COL4A5 | c.906A>C (p.Lys302Asn) c.582A>C (p.Lys194Asn) c.921A>C (p.Lys307Asn) | |
| X | g.108580997A>G | CA517991926 | COL4A5 | c.906A>G (p.Lys302=) c.582A>G (p.Lys194=) c.921A>G (p.Lys307=) | |
| X | g.108580997A>T | CA413926824 | COL4A5 | c.906A>T (p.Lys302Asn) c.582A>T (p.Lys194Asn) c.921A>T (p.Lys307Asn) | |
| X | g.108580998G>A | CA413926830 | COL4A5 | c.907G>A (p.Asp303Asn) c.583G>A (p.Asp195Asn) c.922G>A (p.Asp308Asn) | |
| X | g.108580998G>C | CA10488618 | COL4A5 | c.907G>C (p.Asp303His) c.583G>C (p.Asp195His) c.922G>C (p.Asp308His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580998G= | CA2450683192 | COL4A5 | c.907G= (p.Asp303=) c.583G= (p.Asp195=) c.922G= (p.Asp308=) | |
| X | g.108580998G>T | CA413926826 | COL4A5 | c.907G>T (p.Asp303Tyr) c.583G>T (p.Asp195Tyr) c.922G>T (p.Asp308Tyr) | |
| X | g.108580999A>C | CA413926842 | COL4A5 | c.908A>C (p.Asp303Ala) c.584A>C (p.Asp195Ala) c.923A>C (p.Asp308Ala) | |
| X | g.108580999A>G | CA413926851 | COL4A5 | c.908A>G (p.Asp303Gly) c.584A>G (p.Asp195Gly) c.923A>G (p.Asp308Gly) | gnomAD v4 |
| X | g.108580999A>T | CA413926854 | COL4A5 | c.908A>T (p.Asp303Val) c.584A>T (p.Asp195Val) c.923A>T (p.Asp308Val) | ClinVar |
| X | g.108581000T>A | CA413926859 | COL4A5 | c.909T>A (p.Asp303Glu) c.585T>A (p.Asp195Glu) c.924T>A (p.Asp308Glu) | |
| X | g.108581000T>C | CA10488619 | COL4A5 | c.909T>C (p.Asp303=) c.585T>C (p.Asp195=) c.924T>C (p.Asp308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108581000T>G | CA413926862 | COL4A5 | c.909T>G (p.Asp303Glu) c.585T>G (p.Asp195Glu) c.924T>G (p.Asp308Glu) | |
| X | g.108581000T= | CA2450683193 | COL4A5 | c.909T= (p.Asp303=) c.585T= (p.Asp195=) c.924T= (p.Asp308=) | |
| X | g.108581001G>A | CA413926865 | COL4A5 | c.910G>A (p.Gly304Arg) c.586G>A (p.Gly196Arg) c.925G>A (p.Gly309Arg) | |
| X | g.108581001G>C | CA413926870 | COL4A5 | c.910G>C (p.Gly304Arg) c.586G>C (p.Gly196Arg) c.925G>C (p.Gly309Arg) | |
| X | g.108581001G>T | CA413926867 | COL4A5 | c.910G>T (p.Gly304Ter) c.586G>T (p.Gly196Ter) c.925G>T (p.Gly309Ter) | |
| X | g.108581002G>A | CA413926874 | COL4A5 | c.911G>A (p.Gly304Glu) c.587G>A (p.Gly196Glu) c.926G>A (p.Gly309Glu) | |
| X | g.108581002G>C | CA413926877 | COL4A5 | c.911G>C (p.Gly304Ala) c.587G>C (p.Gly196Ala) c.926G>C (p.Gly309Ala) | |
| X | g.108581002G>T | CA413926879 | COL4A5 | c.911G>T (p.Gly304Val) c.587G>T (p.Gly196Val) c.926G>T (p.Gly309Val) | |
| X | g.108581003A>C | CA517991927 | COL4A5 | c.912A>C (p.Gly304=) c.588A>C (p.Gly196=) c.927A>C (p.Gly309=) | |
| X | g.108581003A>G | CA517991928 | COL4A5 | c.912A>G (p.Gly304=) c.588A>G (p.Gly196=) c.927A>G (p.Gly309=) |