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.108578322_108578330dup | CA2694412261 | COL4A5 | c.719_727dup (p.Gly242_Gln243insProProGly) c.395_403dup (p.Gly134_Gln135insProProGly) c.734_742dup (p.Gly247_Gln248insProProGly) | gnomAD v4 |
| X | g.108578322_108578330del | CA2694412263 | COL4A5 | c.719_727del (p.Pro240_Gly242del) c.395_403del (p.Pro132_Gly134del) c.734_742del (p.Pro245_Gly247del) | gnomAD v4 |
| X | g.108578321C>A | CA413924185 | COL4A5 | c.718C>A (p.Pro240Thr) c.394C>A (p.Pro132Thr) c.733C>A (p.Pro245Thr) | dbSNP |
| X | g.108578321C= | CA2450682324 | COL4A5 | c.718C= (p.Pro240=) c.394C= (p.Pro132=) c.733C= (p.Pro245=) | |
| X | g.108578321C>G | CA413924186 | COL4A5 | c.718C>G (p.Pro240Ala) c.394C>G (p.Pro132Ala) c.733C>G (p.Pro245Ala) | |
| X | g.108578321C>T | CA413924189 | COL4A5 | c.718C>T (p.Pro240Ser) c.394C>T (p.Pro132Ser) c.733C>T (p.Pro245Ser) | ClinVar |
| X | g.108578322C>A | CA413924193 | COL4A5 | c.719C>A (p.Pro240Gln) c.395C>A (p.Pro132Gln) c.734C>A (p.Pro245Gln) | |
| X | g.108578322C>G | CA413924197 | COL4A5 | c.719C>G (p.Pro240Arg) c.395C>G (p.Pro132Arg) c.734C>G (p.Pro245Arg) | |
| X | g.108578322C>T | CA413924199 | COL4A5 | c.719C>T (p.Pro240Leu) c.395C>T (p.Pro132Leu) c.734C>T (p.Pro245Leu) | |
| X | g.108578323A>C | CA517991793 | COL4A5 | c.720A>C (p.Pro240=) c.396A>C (p.Pro132=) c.735A>C (p.Pro245=) | |
| X | g.108578323A>G | CA517991795 | COL4A5 | c.720A>G (p.Pro240=) c.396A>G (p.Pro132=) c.735A>G (p.Pro245=) | |
| X | g.108578323A>T | CA517991794 | COL4A5 | c.720A>T (p.Pro240=) c.396A>T (p.Pro132=) c.735A>T (p.Pro245=) | |
| X | g.108578324C>A | CA413924206 | COL4A5 | c.721C>A (p.Pro241Thr) c.397C>A (p.Pro133Thr) c.736C>A (p.Pro246Thr) | |
| X | g.108578324C>G | CA413924212 | COL4A5 | c.721C>G (p.Pro241Ala) c.397C>G (p.Pro133Ala) c.736C>G (p.Pro246Ala) | |
| X | g.108578324C>T | CA413924203 | COL4A5 | c.721C>T (p.Pro241Ser) c.397C>T (p.Pro133Ser) c.736C>T (p.Pro246Ser) | |
| X | g.108578325C>A | CA334180269 | COL4A5 | c.722C>A (p.Pro241His) c.398C>A (p.Pro133His) c.737C>A (p.Pro246His) | dbSNP |
| X | g.108578325C= | CA2450682325 | COL4A5 | c.722C= (p.Pro241=) c.398C= (p.Pro133=) c.737C= (p.Pro246=) | |
| X | g.108578325C>G | CA413924218 | COL4A5 | c.722C>G (p.Pro241Arg) c.398C>G (p.Pro133Arg) c.737C>G (p.Pro246Arg) | |
| X | g.108578325C>T | CA413924220 | COL4A5 | c.722C>T (p.Pro241Leu) c.398C>T (p.Pro133Leu) c.737C>T (p.Pro246Leu) | |
| X | g.108578326T>A | CA517991796 | COL4A5 | c.723T>A (p.Pro241=) c.399T>A (p.Pro133=) c.738T>A (p.Pro246=) | |
| X | g.108578326T>C | CA517991797 | COL4A5 | c.723T>C (p.Pro241=) c.399T>C (p.Pro133=) c.738T>C (p.Pro246=) | gnomAD v4 |
| X | g.108578326T>G | CA517991798 | COL4A5 | c.723T>G (p.Pro241=) c.399T>G (p.Pro133=) c.738T>G (p.Pro246=) | |
| X | g.108578327G>A | CA413924224 | COL4A5 | c.724G>A (p.Gly242Arg) c.400G>A (p.Gly134Arg) c.739G>A (p.Gly247Arg) | |
| X | g.108578327G>C | CA413924226 | COL4A5 | c.724G>C (p.Gly242Arg) c.400G>C (p.Gly134Arg) c.739G>C (p.Gly247Arg) | |
| X | g.108578327G>T | CA413924227 | COL4A5 | c.724G>T (p.Gly242Trp) c.400G>T (p.Gly134Trp) c.739G>T (p.Gly247Trp) | |
| X | g.108578328G>A | CA413924229 | COL4A5 | c.725G>A (p.Gly242Glu) c.401G>A (p.Gly134Glu) c.740G>A (p.Gly247Glu) | |
| X | g.108578328G>C | CA413924232 | COL4A5 | c.725G>C (p.Gly242Ala) c.401G>C (p.Gly134Ala) c.740G>C (p.Gly247Ala) | |
| X | g.108578328G>T | CA413924234 | COL4A5 | c.725G>T (p.Gly242Val) c.401G>T (p.Gly134Val) c.740G>T (p.Gly247Val) | |
| X | g.108578329G>A | CA10488552 | COL4A5 | c.726G>A (p.Gly242=) c.402G>A (p.Gly134=) c.741G>A (p.Gly247=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578329G>C | CA517991799 | COL4A5 | c.726G>C (p.Gly242=) c.402G>C (p.Gly134=) c.741G>C (p.Gly247=) | |
| X | g.108578329G= | CA2450682326 | COL4A5 | c.726G= (p.Gly242=) c.402G= (p.Gly134=) c.741G= (p.Gly247=) | |
| X | g.108578329G>T | CA517991800 | COL4A5 | c.726G>T (p.Gly242=) c.402G>T (p.Gly134=) c.741G>T (p.Gly247=) | |
| X | g.108578330C>A | CA413924237 | COL4A5 | c.727C>A (p.Gln243Lys) c.403C>A (p.Gln135Lys) c.742C>A (p.Gln248Lys) | |
| X | g.108578330C>G | CA413924239 | COL4A5 | c.727C>G (p.Gln243Glu) c.403C>G (p.Gln135Glu) c.742C>G (p.Gln248Glu) | |
| X | g.108578330C>T | CA413924242 | COL4A5 | c.727C>T (p.Gln243Ter) c.403C>T (p.Gln135Ter) c.742C>T (p.Gln248Ter) | |
| X | g.108578331A>C | CA413924253 | COL4A5 | c.728A>C (p.Gln243Pro) c.404A>C (p.Gln135Pro) c.743A>C (p.Gln248Pro) | |
| X | g.108578331A>G | CA413924247 | COL4A5 | c.728A>G (p.Gln243Arg) c.404A>G (p.Gln135Arg) c.743A>G (p.Gln248Arg) | |
| X | g.108578331A>T | CA413924250 | COL4A5 | c.728A>T (p.Gln243Leu) c.404A>T (p.Gln135Leu) c.743A>T (p.Gln248Leu) | |
| X | g.108578332G>A | CA517991801 | COL4A5 | c.729G>A (p.Gln243=) c.405G>A (p.Gln135=) c.744G>A (p.Gln248=) | |
| X | g.108578332G>C | CA413924256 | COL4A5 | c.729G>C (p.Gln243His) c.405G>C (p.Gln135His) c.744G>C (p.Gln248His) | |
| X | g.108578332G>T | CA413924257 | COL4A5 | c.729G>T (p.Gln243His) c.405G>T (p.Gln135His) c.744G>T (p.Gln248His) | COSMIC COSMIC |
| X | g.108578333A= | CA2450682327 | COL4A5 | c.730A= (p.Ile244=) c.406A= (p.Ile136=) c.745A= (p.Ile249=) | |
| X | g.108578333A>C | CA413924258 | COL4A5 | c.730A>C (p.Ile244Leu) c.406A>C (p.Ile136Leu) c.745A>C (p.Ile249Leu) | gnomAD v4 |
| X | g.108578333A>G | CA413924259 | COL4A5 | c.730A>G (p.Ile244Val) c.406A>G (p.Ile136Val) c.745A>G (p.Ile249Val) | |
| X | g.108578333A>T | CA10488553 | COL4A5 | c.730A>T (p.Ile244Phe) c.406A>T (p.Ile136Phe) c.745A>T (p.Ile249Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578334T>A | CA413924260 | COL4A5 | c.731T>A (p.Ile244Asn) c.407T>A (p.Ile136Asn) c.746T>A (p.Ile249Asn) | |
| X | g.108578334T>C | CA413924262 | COL4A5 | c.731T>C (p.Ile244Thr) c.407T>C (p.Ile136Thr) c.746T>C (p.Ile249Thr) | |
| X | g.108578334T>G | CA413924264 | COL4A5 | c.731T>G (p.Ile244Ser) c.407T>G (p.Ile136Ser) c.746T>G (p.Ile249Ser) | |
| X | g.108578335C>A | CA517991802 | COL4A5 | c.732C>A (p.Ile244=) c.408C>A (p.Ile136=) c.747C>A (p.Ile249=) | gnomAD v4 |
| X | g.108578335C= | CA2450682328 | COL4A5 | c.732C= (p.Ile244=) c.408C= (p.Ile136=) c.747C= (p.Ile249=) |