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 |
|---|---|---|---|---|---|
| 8 | g.31147397C>A | CA370925742 | WRN | c.3493C>A (p.Gln1165Lys) c.*3107C>A (n.*3107C>A) n.2126C>A c.3412C>A (p.Gln1138Lys) c.1894C>A (p.Gln632Lys) n.3766C>A n.614+1111G>T c.3283C>A (p.Gln1095Lys) n.3794C>A | dbSNP |
| 8 | g.31147397C>G | CA370925746 | WRN | c.3493C>G (p.Gln1165Glu) c.*3107C>G (n.*3107C>G) n.2126C>G c.3412C>G (p.Gln1138Glu) c.1894C>G (p.Gln632Glu) n.3766C>G n.614+1111G>C c.3283C>G (p.Gln1095Glu) n.3794C>G | |
| 8 | g.31147397C>T | CA253485 | WRN | c.3493C>T (p.Gln1165Ter) c.*3107C>T (n.*3107C>T) n.2126C>T c.3412C>T (p.Gln1138Ter) c.1894C>T (p.Gln632Ter) n.3766C>T n.614+1111G>A c.3283C>T (p.Gln1095Ter) n.3794C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.31147398A>C | CA370925748 | WRN | c.3494A>C (p.Gln1165Pro) c.*3108A>C (n.*3108A>C) n.2127A>C c.3413A>C (p.Gln1138Pro) c.1895A>C (p.Gln632Pro) n.3767A>C n.614+1110T>G c.3284A>C (p.Gln1095Pro) n.3795A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.31147398A>G | CA370925749 | WRN | c.3494A>G (p.Gln1165Arg) c.*3108A>G (n.*3108A>G) n.2127A>G c.3413A>G (p.Gln1138Arg) c.1895A>G (p.Gln632Arg) n.3767A>G n.614+1110T>C c.3284A>G (p.Gln1095Arg) n.3795A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.31147398A>T | CA370925751 | WRN | c.3494A>T (p.Gln1165Leu) c.*3108A>T (n.*3108A>T) n.2127A>T c.3413A>T (p.Gln1138Leu) c.1895A>T (p.Gln632Leu) n.3767A>T n.614+1110T>A c.3284A>T (p.Gln1095Leu) n.3795A>T | |
| 8 | g.31147399G>A | CA460224016 | WRN | c.3495G>A (p.Gln1165=) c.*3109G>A (n.*3109G>A) n.2128G>A c.3414G>A (p.Gln1138=) c.1896G>A (p.Gln632=) n.3768G>A n.614+1109C>T c.3285G>A (p.Gln1095=) n.3796G>A | |
| 8 | g.31147399G>C | CA370925754 | WRN | c.3495G>C (p.Gln1165His) c.*3109G>C (n.*3109G>C) n.2128G>C c.3414G>C (p.Gln1138His) c.1896G>C (p.Gln632His) n.3768G>C n.614+1109C>G c.3285G>C (p.Gln1095His) n.3796G>C | |
| 8 | g.31147399G>T | CA370925764 | WRN | c.3495G>T (p.Gln1165His) c.*3109G>T (n.*3109G>T) n.2128G>T c.3414G>T (p.Gln1138His) c.1896G>T (p.Gln632His) n.3768G>T n.614+1109C>A c.3285G>T (p.Gln1095His) n.3796G>T | COSMIC |
| 8 | g.31147400A>C | CA370925767 | WRN | c.3496A>C (p.Lys1166Gln) c.*3110A>C (n.*3110A>C) n.2129A>C c.3415A>C (p.Lys1139Gln) c.1897A>C (p.Lys633Gln) n.3769A>C n.614+1108T>G c.3286A>C (p.Lys1096Gln) n.3797A>C | |
| 8 | g.31147400A>G | CA370925769 | WRN | c.3496A>G (p.Lys1166Glu) c.*3110A>G (n.*3110A>G) n.2129A>G c.3415A>G (p.Lys1139Glu) c.1897A>G (p.Lys633Glu) n.3769A>G n.614+1108T>C c.3286A>G (p.Lys1096Glu) n.3797A>G | |
| 8 | g.31147400A>T | CA370925772 | WRN | c.3496A>T (p.Lys1166Ter) c.*3110A>T (n.*3110A>T) n.2129A>T c.3415A>T (p.Lys1139Ter) c.1897A>T (p.Lys633Ter) n.3769A>T n.614+1108T>A c.3286A>T (p.Lys1096Ter) n.3797A>T | |
| 8 | g.31147401A>C | CA370925776 | WRN | c.3497A>C (p.Lys1166Thr) c.*3111A>C (n.*3111A>C) n.2130A>C c.3416A>C (p.Lys1139Thr) c.1898A>C (p.Lys633Thr) n.3770A>C n.614+1107T>G c.3287A>C (p.Lys1096Thr) n.3798A>C | |
| 8 | g.31147401A>G | CA370925778 | WRN | c.3497A>G (p.Lys1166Arg) c.*3111A>G (n.*3111A>G) n.2130A>G c.3416A>G (p.Lys1139Arg) c.1898A>G (p.Lys633Arg) n.3770A>G n.614+1107T>C c.3287A>G (p.Lys1096Arg) n.3798A>G | |
| 8 | g.31147401A>T | CA370925780 | WRN | c.3497A>T (p.Lys1166Ile) c.*3111A>T (n.*3111A>T) n.2130A>T c.3416A>T (p.Lys1139Ile) c.1898A>T (p.Lys633Ile) n.3770A>T n.614+1107T>A c.3287A>T (p.Lys1096Ile) n.3798A>T | COSMIC |
| 8 | g.31147402A>C | CA370925782 | WRN | c.3498A>C (p.Lys1166Asn) c.*3112A>C (n.*3112A>C) n.2131A>C c.3417A>C (p.Lys1139Asn) c.1899A>C (p.Lys633Asn) n.3771A>C n.614+1106T>G c.3288A>C (p.Lys1096Asn) n.3799A>C | |
| 8 | g.31147402A>G | CA4705091 | WRN | c.3498A>G (p.Lys1166=) c.*3112A>G (n.*3112A>G) n.2131A>G c.3417A>G (p.Lys1139=) c.1899A>G (p.Lys633=) n.3771A>G n.614+1106T>C c.3288A>G (p.Lys1096=) n.3799A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.31147402A>T | CA370925786 | WRN | c.3498A>T (p.Lys1166Asn) c.*3112A>T (n.*3112A>T) n.2131A>T c.3417A>T (p.Lys1139Asn) c.1899A>T (p.Lys633Asn) n.3771A>T n.614+1106T>A c.3288A>T (p.Lys1096Asn) n.3799A>T | |
| 8 | g.31147403C>A | CA370925788 | WRN | c.3499C>A (p.His1167Asn) c.*3113C>A (n.*3113C>A) n.2132C>A c.3418C>A (p.His1140Asn) c.1900C>A (p.His634Asn) n.3772C>A n.614+1105G>T c.3289C>A (p.His1097Asn) n.3800C>A | |
| 8 | g.31147403C>G | CA370925790 | WRN | c.3499C>G (p.His1167Asp) c.*3113C>G (n.*3113C>G) n.2132C>G c.3418C>G (p.His1140Asp) c.1900C>G (p.His634Asp) n.3772C>G n.614+1105G>C c.3289C>G (p.His1097Asp) n.3800C>G | gnomAD v4 |
| 8 | g.31147403C>T | CA370925791 | WRN | c.3499C>T (p.His1167Tyr) c.*3113C>T (n.*3113C>T) n.2132C>T c.3418C>T (p.His1140Tyr) c.1900C>T (p.His634Tyr) n.3772C>T n.614+1105G>A c.3289C>T (p.His1097Tyr) n.3800C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.31147404A>C | CA370925792 | WRN | c.3500A>C (p.His1167Pro) c.*3114A>C (n.*3114A>C) n.2133A>C c.3419A>C (p.His1140Pro) c.1901A>C (p.His634Pro) n.3773A>C n.614+1104T>G c.3290A>C (p.His1097Pro) n.3801A>C | |
| 8 | g.31147404A>G | CA4705092 | WRN | c.3500A>G (p.His1167Arg) c.*3114A>G (n.*3114A>G) n.2133A>G c.3419A>G (p.His1140Arg) c.1901A>G (p.His634Arg) n.3773A>G n.614+1104T>C c.3290A>G (p.His1097Arg) n.3801A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.31147404A>T | CA370925793 | WRN | c.3500A>T (p.His1167Leu) c.*3114A>T (n.*3114A>T) n.2133A>T c.3419A>T (p.His1140Leu) c.1901A>T (p.His634Leu) n.3773A>T n.614+1104T>A c.3290A>T (p.His1097Leu) n.3801A>T | gnomAD v4 |
| 8 | g.31147405T>A | CA370925795 | WRN | c.3501T>A (p.His1167Gln) c.*3115T>A (n.*3115T>A) n.2134T>A c.3420T>A (p.His1140Gln) c.1902T>A (p.His634Gln) n.3774T>A n.614+1103A>T c.3291T>A (p.His1097Gln) n.3802T>A | |
| 8 | g.31147405T>C | CA460224021 | WRN | c.3501T>C (p.His1167=) c.*3115T>C (n.*3115T>C) n.2134T>C c.3420T>C (p.His1140=) c.1902T>C (p.His634=) n.3774T>C n.614+1103A>G c.3291T>C (p.His1097=) n.3802T>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.31147405T>G | CA370925794 | WRN | c.3501T>G (p.His1167Gln) c.*3115T>G (n.*3115T>G) n.2134T>G c.3420T>G (p.His1140Gln) c.1902T>G (p.His634Gln) n.3774T>G n.614+1103A>C c.3291T>G (p.His1097Gln) n.3802T>G | gnomAD v4 |
| 8 | g.31147406G>A | CA370925796 | WRN | c.3502G>A (p.Ala1168Thr) c.*3116G>A (n.*3116G>A) n.2135G>A c.3421G>A (p.Ala1141Thr) c.1903G>A (p.Ala635Thr) n.3775G>A n.614+1102C>T c.3292G>A (p.Ala1098Thr) n.3803G>A | |
| 8 | g.31147406G>C | CA370925797 | WRN | c.3502G>C (p.Ala1168Pro) c.*3116G>C (n.*3116G>C) n.2135G>C c.3421G>C (p.Ala1141Pro) c.1903G>C (p.Ala635Pro) n.3775G>C n.614+1102C>G c.3292G>C (p.Ala1098Pro) n.3803G>C | |
| 8 | g.31147406G>T | CA370925798 | WRN | c.3502G>T (p.Ala1168Ser) c.*3116G>T (n.*3116G>T) n.2135G>T c.3421G>T (p.Ala1141Ser) c.1903G>T (p.Ala635Ser) n.3775G>T n.614+1102C>A c.3292G>T (p.Ala1098Ser) n.3803G>T | |
| 8 | g.31147406dup | CA2580078196 | WRN | c.3502dup (p.Ala1168GlyfsTer3) c.*3116dup (n.*3116dup) n.2135dup c.3421dup (p.Ala1141GlyfsTer3) c.1903dup (p.Ala635GlyfsTer3) n.3775dup n.614+1102dup c.3292dup (p.Ala1098GlyfsTer3) n.3803dup | ClinVar |
| 8 | g.31147407C>A | CA370925799 | WRN | c.3503C>A (p.Ala1168Asp) c.*3117C>A (n.*3117C>A) n.2136C>A c.3422C>A (p.Ala1141Asp) c.1904C>A (p.Ala635Asp) n.3776C>A n.614+1101G>T c.3293C>A (p.Ala1098Asp) n.3804C>A | dbSNP |
| 8 | g.31147407C>G | CA370925801 | WRN | c.3503C>G (p.Ala1168Gly) c.*3117C>G (n.*3117C>G) n.2136C>G c.3422C>G (p.Ala1141Gly) c.1904C>G (p.Ala635Gly) n.3776C>G n.614+1101G>C c.3293C>G (p.Ala1098Gly) n.3804C>G | |
| 8 | g.31147407C>T | CA370925802 | WRN | c.3503C>T (p.Ala1168Val) c.*3117C>T (n.*3117C>T) n.2136C>T c.3422C>T (p.Ala1141Val) c.1904C>T (p.Ala635Val) n.3776C>T n.614+1101G>A c.3293C>T (p.Ala1098Val) n.3804C>T | dbSNP |
| 8 | g.31147408C>A | CA460224023 | WRN | c.3504C>A (p.Ala1168=) c.*3118C>A (n.*3118C>A) n.2137C>A c.3423C>A (p.Ala1141=) c.1905C>A (p.Ala635=) n.3777C>A n.614+1100G>T c.3294C>A (p.Ala1098=) n.3805C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.31147408C>G | CA460224024 | WRN | c.3504C>G (p.Ala1168=) c.*3118C>G (n.*3118C>G) n.2137C>G c.3423C>G (p.Ala1141=) c.1905C>G (p.Ala635=) n.3777C>G n.614+1100G>C c.3294C>G (p.Ala1098=) n.3805C>G | |
| 8 | g.31147408C>T | CA460224025 | WRN | c.3504C>T (p.Ala1168=) c.*3118C>T (n.*3118C>T) n.2137C>T c.3423C>T (p.Ala1141=) c.1905C>T (p.Ala635=) n.3777C>T n.614+1100G>A c.3294C>T (p.Ala1098=) n.3805C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.31147409A>C | CA370925807 | WRN | c.3505A>C (p.Asn1169His) c.*3119A>C (n.*3119A>C) n.2138A>C c.3424A>C (p.Asn1142His) c.1906A>C (p.Asn636His) n.3778A>C n.614+1099T>G c.3295A>C (p.Asn1099His) n.3806A>C | dbSNP |
| 8 | g.31147409A>G | CA370925804 | WRN | c.3505A>G (p.Asn1169Asp) c.*3119A>G (n.*3119A>G) n.2138A>G c.3424A>G (p.Asn1142Asp) c.1906A>G (p.Asn636Asp) n.3778A>G n.614+1099T>C c.3295A>G (p.Asn1099Asp) n.3806A>G | |
| 8 | g.31147409A>T | CA370925806 | WRN | c.3505A>T (p.Asn1169Tyr) c.*3119A>T (n.*3119A>T) n.2138A>T c.3424A>T (p.Asn1142Tyr) c.1906A>T (p.Asn636Tyr) n.3778A>T n.614+1099T>A c.3295A>T (p.Asn1099Tyr) n.3806A>T | |
| 8 | g.31147410A>C | CA370925808 | WRN | c.3506A>C (p.Asn1169Thr) c.*3120A>C (n.*3120A>C) n.2139A>C c.3425A>C (p.Asn1142Thr) c.1907A>C (p.Asn636Thr) n.3779A>C n.614+1098T>G c.3296A>C (p.Asn1099Thr) n.3807A>C | |
| 8 | g.31147410A>G | CA162752 | WRN | c.3506A>G (p.Asn1169Ser) c.*3120A>G (n.*3120A>G) n.2139A>G c.3425A>G (p.Asn1142Ser) c.1907A>G (p.Asn636Ser) n.3779A>G n.614+1098T>C c.3296A>G (p.Asn1099Ser) n.3807A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.31147410A>T | CA370925809 | WRN | c.3506A>T (p.Asn1169Ile) c.*3120A>T (n.*3120A>T) n.2139A>T c.3425A>T (p.Asn1142Ile) c.1907A>T (p.Asn636Ile) n.3779A>T n.614+1098T>A c.3296A>T (p.Asn1099Ile) n.3807A>T | |
| 8 | g.31147411T>A | CA370925812 | WRN | c.3507T>A (p.Asn1169Lys) c.*3121T>A (n.*3121T>A) n.2140T>A c.3426T>A (p.Asn1142Lys) c.1908T>A (p.Asn636Lys) n.3780T>A n.614+1097A>T c.3297T>A (p.Asn1099Lys) n.3808T>A | |
| 8 | g.31147411T>C | CA460224028 | WRN | c.3507T>C (p.Asn1169=) c.*3121T>C (n.*3121T>C) n.2140T>C c.3426T>C (p.Asn1142=) c.1908T>C (p.Asn636=) n.3780T>C n.614+1097A>G c.3297T>C (p.Asn1099=) n.3808T>C | |
| 8 | g.31147411T>G | CA370925815 | WRN | c.3507T>G (p.Asn1169Lys) c.*3121T>G (n.*3121T>G) n.2140T>G c.3426T>G (p.Asn1142Lys) c.1908T>G (p.Asn636Lys) n.3780T>G n.614+1097A>C c.3297T>G (p.Asn1099Lys) n.3808T>G | |
| 8 | g.31147412A>C | CA370925817 | WRN | c.3508A>C (p.Lys1170Gln) c.*3122A>C (n.*3122A>C) n.2141A>C c.3427A>C (p.Lys1143Gln) c.1909A>C (p.Lys637Gln) n.3781A>C n.614+1096T>G c.3298A>C (p.Lys1100Gln) n.3809A>C | |
| 8 | g.31147412A>G | CA370925818 | WRN | c.3508A>G (p.Lys1170Glu) c.*3122A>G (n.*3122A>G) n.2141A>G c.3427A>G (p.Lys1143Glu) c.1909A>G (p.Lys637Glu) n.3781A>G n.614+1096T>C c.3298A>G (p.Lys1100Glu) n.3809A>G | |
| 8 | g.31147412A>T | CA370925821 | WRN | c.3508A>T (p.Lys1170Ter) c.*3122A>T (n.*3122A>T) n.2141A>T c.3427A>T (p.Lys1143Ter) c.1909A>T (p.Lys637Ter) n.3781A>T n.614+1096T>A c.3298A>T (p.Lys1100Ter) n.3809A>T | |
| 8 | g.31147415del | CA2579138065 | WRN | c.3511del (p.Met1171TrpfsTer20) c.*3125del (n.*3125del) n.2144del c.3430del (p.Met1144TrpfsTer20) c.1912del (p.Met638TrpfsTer20) n.3784del n.614+1096del c.3301del (p.Met1101TrpfsTer20) n.3812del | ClinVar |