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.108622766G>A | CA413852821 | COL4A5 | c.2858G>A (p.Gly953Glu) n.2314G>A c.91G>A c.2534G>A (p.Gly845Glu) c.431G>A (p.Gly144Glu) c.2873G>A (p.Gly958Glu) c.1193G>A (p.Gly398Glu) | gnomAD v4 |
| X | g.108622766G>C | CA413852823 | COL4A5 | c.2858G>C (p.Gly953Ala) n.2314G>C c.91G>C c.2534G>C (p.Gly845Ala) c.431G>C (p.Gly144Ala) c.2873G>C (p.Gly958Ala) c.1193G>C (p.Gly398Ala) | |
| X | g.108622766G= | CA2450696880 | COL4A5 | c.2858G= (p.Gly953=) n.2314G= c.91G= c.2534G= (p.Gly845=) c.431G= (p.Gly144=) c.2873G= (p.Gly958=) c.1193G= (p.Gly398=) | |
| X | g.108622766G>T | CA258777 | COL4A5 | c.2858G>T (p.Gly953Val) n.2314G>T c.91G>T c.2534G>T (p.Gly845Val) c.431G>T (p.Gly144Val) c.2873G>T (p.Gly958Val) c.1193G>T (p.Gly398Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622767A>C | CA517924783 | COL4A5 | c.2859A>C (p.Gly953=) n.2315A>C c.92A>C c.2535A>C (p.Gly845=) c.432A>C (p.Gly144=) c.2874A>C (p.Gly958=) c.1194A>C (p.Gly398=) | |
| X | g.108622767A>G | CA517924784 | COL4A5 | c.2859A>G (p.Gly953=) n.2315A>G c.92A>G c.2535A>G (p.Gly845=) c.432A>G (p.Gly144=) c.2874A>G (p.Gly958=) c.1194A>G (p.Gly398=) | ClinVar |
| X | g.108622767A>T | CA517924785 | COL4A5 | c.2859A>T (p.Gly953=) n.2315A>T c.92A>T c.2535A>T (p.Gly845=) c.432A>T (p.Gly144=) c.2874A>T (p.Gly958=) c.1194A>T (p.Gly398=) | |
| X | g.108622768C>A | CA413852830 | COL4A5 | c.2860C>A (p.Pro954Thr) n.2316C>A c.93C>A c.2536C>A (p.Pro846Thr) c.433C>A (p.Pro145Thr) c.2875C>A (p.Pro959Thr) c.1195C>A (p.Pro399Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622768C= | CA2450696881 | COL4A5 | c.2860C= (p.Pro954=) n.2316C= c.93C= c.2536C= (p.Pro846=) c.433C= (p.Pro145=) c.2875C= (p.Pro959=) c.1195C= (p.Pro399=) | |
| X | g.108622768C>G | CA413852826 | COL4A5 | c.2860C>G (p.Pro954Ala) n.2316C>G c.93C>G c.2536C>G (p.Pro846Ala) c.433C>G (p.Pro145Ala) c.2875C>G (p.Pro959Ala) c.1195C>G (p.Pro399Ala) | |
| X | g.108622768C>T | CA413852828 | COL4A5 | c.2860C>T (p.Pro954Ser) n.2316C>T c.93C>T c.2536C>T (p.Pro846Ser) c.433C>T (p.Pro145Ser) c.2875C>T (p.Pro959Ser) c.1195C>T (p.Pro399Ser) | |
| X | g.108622769dup | CA2695235225 | COL4A5 | c.2861dup (p.Met955AsnfsTer?) n.2317dup c.94dup c.2537dup (p.Met847AsnfsTer?) c.434dup (p.Met146AsnfsTer?) c.2876dup (p.Met960AsnfsTer?) c.1196dup (p.Met400AsnfsTer?) | |
| X | g.108622769C>A | CA413852832 | COL4A5 | c.2861C>A (p.Pro954Gln) n.2317C>A c.94C>A c.2537C>A (p.Pro846Gln) c.434C>A (p.Pro145Gln) c.2876C>A (p.Pro959Gln) c.1196C>A (p.Pro399Gln) | gnomAD v4 |
| X | g.108622769C>G | CA413852834 | COL4A5 | c.2861C>G (p.Pro954Arg) n.2317C>G c.94C>G c.2537C>G (p.Pro846Arg) c.434C>G (p.Pro145Arg) c.2876C>G (p.Pro959Arg) c.1196C>G (p.Pro399Arg) | |
| X | g.108622769C>T | CA413852836 | COL4A5 | c.2861C>T (p.Pro954Leu) n.2317C>T c.94C>T c.2537C>T (p.Pro846Leu) c.434C>T (p.Pro145Leu) c.2876C>T (p.Pro959Leu) c.1196C>T (p.Pro399Leu) | |
| X | g.108622770A>C | CA517924788 | COL4A5 | c.2862A>C (p.Pro954=) n.2318A>C c.95A>C c.2538A>C (p.Pro846=) c.435A>C (p.Pro145=) c.2877A>C (p.Pro959=) c.1197A>C (p.Pro399=) | |
| X | g.108622770A>G | CA517924787 | COL4A5 | c.2862A>G (p.Pro954=) n.2318A>G c.95A>G c.2538A>G (p.Pro846=) c.435A>G (p.Pro145=) c.2877A>G (p.Pro959=) c.1197A>G (p.Pro399=) | |
| X | g.108622770A>T | CA517924786 | COL4A5 | c.2862A>T (p.Pro954=) n.2318A>T c.95A>T c.2538A>T (p.Pro846=) c.435A>T (p.Pro145=) c.2877A>T (p.Pro959=) c.1197A>T (p.Pro399=) | |
| X | g.108622771A>C | CA413852838 | COL4A5 | c.2863A>C (p.Met955Leu) n.2319A>C c.96A>C c.2539A>C (p.Met847Leu) c.436A>C (p.Met146Leu) c.2878A>C (p.Met960Leu) c.1198A>C (p.Met400Leu) | gnomAD v4 |
| X | g.108622771A>G | CA413852840 | COL4A5 | c.2863A>G (p.Met955Val) n.2319A>G c.96A>G c.2539A>G (p.Met847Val) c.436A>G (p.Met146Val) c.2878A>G (p.Met960Val) c.1198A>G (p.Met400Val) | |
| X | g.108622771A>T | CA413852842 | COL4A5 | c.2863A>T (p.Met955Leu) n.2319A>T c.96A>T c.2539A>T (p.Met847Leu) c.436A>T (p.Met146Leu) c.2878A>T (p.Met960Leu) c.1198A>T (p.Met400Leu) | |
| X | g.108622772T>A | CA413852844 | COL4A5 | c.2864T>A (p.Met955Lys) n.2320T>A c.97T>A c.2540T>A (p.Met847Lys) c.437T>A (p.Met146Lys) c.2879T>A (p.Met960Lys) c.1199T>A (p.Met400Lys) | |
| X | g.108622772T>C | CA413852846 | COL4A5 | c.2864T>C (p.Met955Thr) n.2320T>C c.97T>C c.2540T>C (p.Met847Thr) c.437T>C (p.Met146Thr) c.2879T>C (p.Met960Thr) c.1199T>C (p.Met400Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108622772T>G | CA413852848 | COL4A5 | c.2864T>G (p.Met955Arg) n.2320T>G c.97T>G c.2540T>G (p.Met847Arg) c.437T>G (p.Met146Arg) c.2879T>G (p.Met960Arg) c.1199T>G (p.Met400Arg) | |
| X | g.108622772T= | CA2450696882 | COL4A5 | c.2864T= (p.Met955=) n.2320T= c.97T= c.2540T= (p.Met847=) c.437T= (p.Met146=) c.2879T= (p.Met960=) c.1199T= (p.Met400=) | |
| X | g.108622773G>A | CA413852851 | COL4A5 | c.2865G>A (p.Met955Ile) n.2321G>A c.98G>A c.2541G>A (p.Met847Ile) c.438G>A (p.Met146Ile) c.2880G>A (p.Met960Ile) c.1200G>A (p.Met400Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.108622773G>C | CA413852852 | COL4A5 | c.2865G>C (p.Met955Ile) n.2321G>C c.98G>C c.2541G>C (p.Met847Ile) c.438G>C (p.Met146Ile) c.2880G>C (p.Met960Ile) c.1200G>C (p.Met400Ile) | |
| X | g.108622773G= | CA2450696883 | COL4A5 | c.2865G= (p.Met955=) n.2321G= c.98G= c.2541G= (p.Met847=) c.438G= (p.Met146=) c.2880G= (p.Met960=) c.1200G= (p.Met400=) | |
| X | g.108622773G>T | CA413852854 | COL4A5 | c.2865G>T (p.Met955Ile) n.2321G>T c.98G>T c.2541G>T (p.Met847Ile) c.438G>T (p.Met146Ile) c.2880G>T (p.Met960Ile) c.1200G>T (p.Met400Ile) | |
| X | g.108622774G>A | CA413852858 | COL4A5 | c.2866G>A (p.Asp956Asn) n.2322G>A c.99G>A c.2542G>A (p.Asp848Asn) c.439G>A (p.Asp147Asn) c.2881G>A (p.Asp961Asn) c.1201G>A (p.Asp401Asn) | |
| X | g.108622774G>C | CA413852860 | COL4A5 | c.2866G>C (p.Asp956His) n.2322G>C c.99G>C c.2542G>C (p.Asp848His) c.439G>C (p.Asp147His) c.2881G>C (p.Asp961His) c.1201G>C (p.Asp401His) | |
| X | g.108622774G>T | CA413852857 | COL4A5 | c.2866G>T (p.Asp956Tyr) n.2322G>T c.99G>T c.2542G>T (p.Asp848Tyr) c.439G>T (p.Asp147Tyr) c.2881G>T (p.Asp961Tyr) c.1201G>T (p.Asp401Tyr) | gnomAD v4 |
| X | g.108622775A>C | CA413852863 | COL4A5 | c.2867A>C (p.Asp956Ala) n.2323A>C c.100A>C c.2543A>C (p.Asp848Ala) c.440A>C (p.Asp147Ala) c.2882A>C (p.Asp961Ala) c.1202A>C (p.Asp401Ala) | |
| X | g.108622775A>G | CA413852864 | COL4A5 | c.2867A>G (p.Asp956Gly) n.2323A>G c.100A>G c.2543A>G (p.Asp848Gly) c.440A>G (p.Asp147Gly) c.2882A>G (p.Asp961Gly) c.1202A>G (p.Asp401Gly) | |
| X | g.108622775A>T | CA413852865 | COL4A5 | c.2867A>T (p.Asp956Val) n.2323A>T c.100A>T c.2543A>T (p.Asp848Val) c.440A>T (p.Asp147Val) c.2882A>T (p.Asp961Val) c.1202A>T (p.Asp401Val) | |
| X | g.108622776T>A | CA413852867 | COL4A5 | c.2868T>A (p.Asp956Glu) n.2324T>A c.101T>A c.2544T>A (p.Asp848Glu) c.441T>A (p.Asp147Glu) c.2883T>A (p.Asp961Glu) c.1203T>A (p.Asp401Glu) | |
| X | g.108622776T>C | CA517924789 | COL4A5 | c.2868T>C (p.Asp956=) n.2324T>C c.101T>C c.2544T>C (p.Asp848=) c.441T>C (p.Asp147=) c.2883T>C (p.Asp961=) c.1203T>C (p.Asp401=) | |
| X | g.108622776T>G | CA413852869 | COL4A5 | c.2868T>G (p.Asp956Glu) n.2324T>G c.101T>G c.2544T>G (p.Asp848Glu) c.441T>G (p.Asp147Glu) c.2883T>G (p.Asp961Glu) c.1203T>G (p.Asp401Glu) | |
| X | g.108622777C>A | CA413852876 | COL4A5 | c.2869C>A (p.Pro957Thr) n.2325C>A c.102C>A c.2545C>A (p.Pro849Thr) c.442C>A (p.Pro148Thr) c.2884C>A (p.Pro962Thr) c.1204C>A (p.Pro402Thr) | |
| X | g.108622777C>G | CA413852874 | COL4A5 | c.2869C>G (p.Pro957Ala) n.2325C>G c.102C>G c.2545C>G (p.Pro849Ala) c.442C>G (p.Pro148Ala) c.2884C>G (p.Pro962Ala) c.1204C>G (p.Pro402Ala) | |
| X | g.108622777C>T | CA413852872 | COL4A5 | c.2869C>T (p.Pro957Ser) n.2325C>T c.102C>T c.2545C>T (p.Pro849Ser) c.442C>T (p.Pro148Ser) c.2884C>T (p.Pro962Ser) c.1204C>T (p.Pro402Ser) | |
| X | g.108622778C>A | CA413852878 | COL4A5 | c.2870C>A (p.Pro957Gln) n.2326C>A c.103C>A c.2546C>A (p.Pro849Gln) c.443C>A (p.Pro148Gln) c.2885C>A (p.Pro962Gln) c.1205C>A (p.Pro402Gln) | dbSNP |
| X | g.108622778C= | CA2450696884 | COL4A5 | c.2870C= (p.Pro957=) n.2326C= c.103C= c.2546C= (p.Pro849=) c.443C= (p.Pro148=) c.2885C= (p.Pro962=) c.1205C= (p.Pro402=) | |
| X | g.108622778C>G | CA413852880 | COL4A5 | c.2870C>G (p.Pro957Arg) n.2326C>G c.103C>G c.2546C>G (p.Pro849Arg) c.443C>G (p.Pro148Arg) c.2885C>G (p.Pro962Arg) c.1205C>G (p.Pro402Arg) | |
| X | g.108622778C>T | CA413852881 | COL4A5 | c.2870C>T (p.Pro957Leu) n.2326C>T c.103C>T c.2546C>T (p.Pro849Leu) c.443C>T (p.Pro148Leu) c.2885C>T (p.Pro962Leu) c.1205C>T (p.Pro402Leu) | |
| X | g.108622779A>C | CA517924790 | COL4A5 | c.2871A>C (p.Pro957=) n.2327A>C c.104A>C c.2547A>C (p.Pro849=) c.444A>C (p.Pro148=) c.2886A>C (p.Pro962=) c.1206A>C (p.Pro402=) | |
| X | g.108622779A>G | CA517924791 | COL4A5 | c.2871A>G (p.Pro957=) n.2327A>G c.104A>G c.2547A>G (p.Pro849=) c.444A>G (p.Pro148=) c.2886A>G (p.Pro962=) c.1206A>G (p.Pro402=) | |
| X | g.108622779A>T | CA517924792 | COL4A5 | c.2871A>T (p.Pro957=) n.2327A>T c.104A>T c.2547A>T (p.Pro849=) c.444A>T (p.Pro148=) c.2886A>T (p.Pro962=) c.1206A>T (p.Pro402=) | |
| X | g.108622780A>C | CA413852884 | COL4A5 | c.2872A>C (p.Asn958His) n.2328A>C c.105A>C c.2548A>C (p.Asn850His) c.445A>C (p.Asn149His) c.2887A>C (p.Asn963His) c.1207A>C (p.Asn403His) | |
| X | g.108622780A>G | CA413852886 | COL4A5 | c.2872A>G (p.Asn958Asp) n.2328A>G c.105A>G c.2548A>G (p.Asn850Asp) c.445A>G (p.Asn149Asp) c.2887A>G (p.Asn963Asp) c.1207A>G (p.Asn403Asp) |