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.23358390A>C | CA387551984 | SACS | c.549T>G (p.Asp183Glu) n.687T>G c.540T>G (p.Asp180Glu) n.2906T>G c.-1702T>G (n.-1702T>G) c.247T>G c.108T>G (p.Asp36Glu) c.573T>G (p.Asp191Glu) | |
| 13 | g.23358390A>G | CA482922111 | SACS | c.549T>C (p.Asp183=) n.687T>C c.540T>C (p.Asp180=) n.2906T>C c.-1702T>C (n.-1702T>C) c.247T>C c.108T>C (p.Asp36=) c.573T>C (p.Asp191=) | |
| 13 | g.23358390A>T | CA387551983 | SACS | c.549T>A (p.Asp183Glu) n.687T>A c.540T>A (p.Asp180Glu) n.2906T>A c.-1702T>A (n.-1702T>A) c.247T>A c.108T>A (p.Asp36Glu) c.573T>A (p.Asp191Glu) | |
| 13 | g.23358391T>A | CA387551985 | SACS | c.548A>T (p.Asp183Val) n.686A>T c.539A>T (p.Asp180Val) n.2905A>T c.-1703A>T (n.-1703A>T) c.246A>T c.107A>T (p.Asp36Val) c.572A>T (p.Asp191Val) | dbSNP |
| 13 | g.23358391T>C | CA387551987 | SACS | c.548A>G (p.Asp183Gly) n.686A>G c.539A>G (p.Asp180Gly) n.2905A>G c.-1703A>G (n.-1703A>G) c.246A>G c.107A>G (p.Asp36Gly) c.572A>G (p.Asp191Gly) | gnomAD v4 |
| 13 | g.23358391T>G | CA387551986 | SACS | c.548A>C (p.Asp183Ala) n.686A>C c.539A>C (p.Asp180Ala) n.2905A>C c.-1703A>C (n.-1703A>C) c.246A>C c.107A>C (p.Asp36Ala) c.572A>C (p.Asp191Ala) | |
| 13 | g.23358391T= | CA2078636467 | SACS | c.548A= (p.Asp183=) n.686A= c.539A= (p.Asp180=) n.2905A= c.-1703A= (n.-1703A=) c.246A= c.107A= (p.Asp36=) c.572A= (p.Asp191=) | |
| 13 | g.23358392C>A | CA387551988 | SACS | c.547G>T (p.Asp183Tyr) n.685G>T c.538G>T (p.Asp180Tyr) n.2904G>T c.-1704G>T (n.-1704G>T) c.245G>T c.106G>T (p.Asp36Tyr) c.571G>T (p.Asp191Tyr) | |
| 13 | g.23358392C>G | CA387551990 | SACS | c.547G>C (p.Asp183His) n.685G>C c.538G>C (p.Asp180His) n.2904G>C c.-1704G>C (n.-1704G>C) c.245G>C c.106G>C (p.Asp36His) c.571G>C (p.Asp191His) | |
| 13 | g.23358392C>T | CA387551989 | SACS | c.547G>A (p.Asp183Asn) n.685G>A c.538G>A (p.Asp180Asn) n.2904G>A c.-1704G>A (n.-1704G>A) c.245G>A c.106G>A (p.Asp36Asn) c.571G>A (p.Asp191Asn) | |
| 13 | g.23358393A>C | CA387551991 | SACS | c.546T>G (p.Asp182Glu) n.684T>G c.537T>G (p.Asp179Glu) n.2903T>G c.-1705T>G (n.-1705T>G) c.244T>G c.105T>G (p.Asp35Glu) c.570T>G (p.Asp190Glu) | |
| 13 | g.23358393A>G | CA482922125 | SACS | c.546T>C (p.Asp182=) n.684T>C c.537T>C (p.Asp179=) n.2903T>C c.-1705T>C (n.-1705T>C) c.244T>C c.105T>C (p.Asp35=) c.570T>C (p.Asp190=) | |
| 13 | g.23358393A>T | CA387551992 | SACS | c.546T>A (p.Asp182Glu) n.684T>A c.537T>A (p.Asp179Glu) n.2903T>A c.-1705T>A (n.-1705T>A) c.244T>A c.105T>A (p.Asp35Glu) c.570T>A (p.Asp190Glu) | |
| 13 | g.23358394T>A | CA387551993 | SACS | c.545A>T (p.Asp182Val) n.683A>T c.536A>T (p.Asp179Val) n.2902A>T c.-1706A>T (n.-1706A>T) c.243A>T c.104A>T (p.Asp35Val) c.569A>T (p.Asp190Val) | gnomAD v4 |
| 13 | g.23358394T>C | CA387551994 | SACS | c.545A>G (p.Asp182Gly) n.683A>G c.536A>G (p.Asp179Gly) n.2902A>G c.-1706A>G (n.-1706A>G) c.243A>G c.104A>G (p.Asp35Gly) c.569A>G (p.Asp190Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23358394T>G | CA387551995 | SACS | c.545A>C (p.Asp182Ala) n.683A>C c.536A>C (p.Asp179Ala) n.2902A>C c.-1706A>C (n.-1706A>C) c.243A>C c.104A>C (p.Asp35Ala) c.569A>C (p.Asp190Ala) | |
| 13 | g.23358394T= | CA2078636469 | SACS | c.545A= (p.Asp182=) n.683A= c.536A= (p.Asp179=) n.2902A= c.-1706A= (n.-1706A=) c.243A= c.104A= (p.Asp35=) c.569A= (p.Asp190=) | |
| 13 | g.23358395C>A | CA387551996 | SACS | c.544G>T (p.Asp182Tyr) n.682G>T c.535G>T (p.Asp179Tyr) n.2901G>T c.-1707G>T (n.-1707G>T) c.242G>T c.103G>T (p.Asp35Tyr) c.568G>T (p.Asp190Tyr) | |
| 13 | g.23358395C>G | CA387551997 | SACS | c.544G>C (p.Asp182His) n.682G>C c.535G>C (p.Asp179His) n.2901G>C c.-1707G>C (n.-1707G>C) c.242G>C c.103G>C (p.Asp35His) c.568G>C (p.Asp190His) | |
| 13 | g.23358395C>T | CA387551998 | SACS | c.544G>A (p.Asp182Asn) n.682G>A c.535G>A (p.Asp179Asn) n.2901G>A c.-1707G>A (n.-1707G>A) c.242G>A c.103G>A (p.Asp35Asn) c.568G>A (p.Asp190Asn) | gnomAD v4 |
| 13 | g.23358396C>A | CA387551999 | SACS | c.543G>T (p.Lys181Asn) n.681G>T c.534G>T (p.Lys178Asn) n.2900G>T c.-1708G>T (n.-1708G>T) c.241G>T c.102G>T (p.Lys34Asn) c.567G>T (p.Lys189Asn) | |
| 13 | g.23358396C= | CA2078636471 | SACS | c.543G= (p.Lys181=) n.681G= c.534G= (p.Lys178=) n.2900G= c.-1708G= (n.-1708G=) c.241G= c.102G= (p.Lys34=) c.567G= (p.Lys189=) | |
| 13 | g.23358396C>G | CA387552000 | SACS | c.543G>C (p.Lys181Asn) n.681G>C c.534G>C (p.Lys178Asn) n.2900G>C c.-1708G>C (n.-1708G>C) c.241G>C c.102G>C (p.Lys34Asn) c.567G>C (p.Lys189Asn) | gnomAD v4 |
| 13 | g.23358396C>T | CA482922134 | SACS | c.543G>A (p.Lys181=) n.681G>A c.534G>A (p.Lys178=) n.2900G>A c.-1708G>A (n.-1708G>A) c.241G>A c.102G>A (p.Lys34=) c.567G>A (p.Lys189=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23358397T>A | CA387552001 | SACS | c.542A>T (p.Lys181Met) n.680A>T c.533A>T (p.Lys178Met) n.2899A>T c.-1709A>T (n.-1709A>T) c.240A>T c.101A>T (p.Lys34Met) c.566A>T (p.Lys189Met) | gnomAD v4 |
| 13 | g.23358397T>C | CA387552002 | SACS | c.542A>G (p.Lys181Arg) n.680A>G c.533A>G (p.Lys178Arg) n.2899A>G c.-1709A>G (n.-1709A>G) c.240A>G c.101A>G (p.Lys34Arg) c.566A>G (p.Lys189Arg) | |
| 13 | g.23358397T>G | CA387552003 | SACS | c.542A>C (p.Lys181Thr) n.680A>C c.533A>C (p.Lys178Thr) n.2899A>C c.-1709A>C (n.-1709A>C) c.240A>C c.101A>C (p.Lys34Thr) c.566A>C (p.Lys189Thr) | |
| 13 | g.23358401dup | CA2798500479 | SACS | c.542dup (p.Asp182GlyfsTer2) n.680dup c.533dup (p.Asp179GlyfsTer2) n.2899dup c.-1709dup (n.-1709dup) c.240dup c.101dup (p.Asp35GlyfsTer2) c.566dup (p.Asp190GlyfsTer2) | |
| 13 | g.23358401del | CA2580086882 | SACS | c.542del (p.Lys181ArgfsTer5) n.680del c.533del (p.Lys178ArgfsTer5) n.2899del c.-1709del (n.-1709del) c.240del c.101del (p.Lys34ArgfsTer5) c.566del (p.Lys189ArgfsTer5) | ClinVar |
| 13 | g.23358398T>A | CA387552004 | SACS | c.541A>T (p.Lys181Ter) n.679A>T c.532A>T (p.Lys178Ter) n.2898A>T c.-1710A>T (n.-1710A>T) c.239A>T c.100A>T (p.Lys34Ter) c.565A>T (p.Lys189Ter) | |
| 13 | g.23358398T>C | CA387552006 | SACS | c.541A>G (p.Lys181Glu) n.679A>G c.532A>G (p.Lys178Glu) n.2898A>G c.-1710A>G (n.-1710A>G) c.239A>G c.100A>G (p.Lys34Glu) c.565A>G (p.Lys189Glu) | dbSNP |
| 13 | g.23358398T>G | CA387552005 | SACS | c.541A>C (p.Lys181Gln) n.679A>C c.532A>C (p.Lys178Gln) n.2898A>C c.-1710A>C (n.-1710A>C) c.239A>C c.100A>C (p.Lys34Gln) c.565A>C (p.Lys189Gln) | |
| 13 | g.23358398T= | CA2078636474 | SACS | c.541A= (p.Lys181=) n.679A= c.532A= (p.Lys178=) n.2898A= c.-1710A= (n.-1710A=) c.239A= c.100A= (p.Lys34=) c.565A= (p.Lys189=) | |
| 13 | g.23358399T>A | CA387552007 | SACS | c.540A>T (p.Lys180Asn) n.678A>T c.531A>T (p.Lys177Asn) n.2897A>T c.-1711A>T (n.-1711A>T) c.238A>T c.99A>T (p.Lys33Asn) c.564A>T (p.Lys188Asn) | |
| 13 | g.23358399T>C | CA246680340 | SACS | c.540A>G (p.Lys180=) n.678A>G c.531A>G (p.Lys177=) n.2897A>G c.-1711A>G (n.-1711A>G) c.238A>G c.99A>G (p.Lys33=) c.564A>G (p.Lys188=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23358399T>G | CA387552008 | SACS | c.540A>C (p.Lys180Asn) n.678A>C c.531A>C (p.Lys177Asn) n.2897A>C c.-1711A>C (n.-1711A>C) c.238A>C c.99A>C (p.Lys33Asn) c.564A>C (p.Lys188Asn) | |
| 13 | g.23358399T= | CA2078636478 | SACS | c.540A= (p.Lys180=) n.678A= c.531A= (p.Lys177=) n.2897A= c.-1711A= (n.-1711A=) c.238A= c.99A= (p.Lys33=) c.564A= (p.Lys188=) | |
| 13 | g.23358400T>A | CA387552009 | SACS | c.539A>T (p.Lys180Ile) n.677A>T c.530A>T (p.Lys177Ile) n.2896A>T c.-1712A>T (n.-1712A>T) c.237A>T c.98A>T (p.Lys33Ile) c.563A>T (p.Lys188Ile) | |
| 13 | g.23358400T>C | CA387552010 | SACS | c.539A>G (p.Lys180Arg) n.677A>G c.530A>G (p.Lys177Arg) n.2896A>G c.-1712A>G (n.-1712A>G) c.237A>G c.98A>G (p.Lys33Arg) c.563A>G (p.Lys188Arg) | |
| 13 | g.23358400T>G | CA387552011 | SACS | c.539A>C (p.Lys180Thr) n.677A>C c.530A>C (p.Lys177Thr) n.2896A>C c.-1712A>C (n.-1712A>C) c.237A>C c.98A>C (p.Lys33Thr) c.563A>C (p.Lys188Thr) | |
| 13 | g.23358401T>A | CA387552012 | SACS | c.538A>T (p.Lys180Ter) n.676A>T c.529A>T (p.Lys177Ter) n.2895A>T c.-1713A>T (n.-1713A>T) c.236A>T c.97A>T (p.Lys33Ter) c.562A>T (p.Lys188Ter) | |
| 13 | g.23358401T>C | CA387552013 | SACS | c.538A>G (p.Lys180Glu) n.676A>G c.529A>G (p.Lys177Glu) n.2895A>G c.-1713A>G (n.-1713A>G) c.236A>G c.97A>G (p.Lys33Glu) c.562A>G (p.Lys188Glu) | |
| 13 | g.23358401T>G | CA387552014 | SACS | c.538A>C (p.Lys180Gln) n.676A>C c.529A>C (p.Lys177Gln) n.2895A>C c.-1713A>C (n.-1713A>C) c.236A>C c.97A>C (p.Lys33Gln) c.562A>C (p.Lys188Gln) | |
| 13 | g.23358402C>A | CA387552015 | SACS | c.537G>T (p.Arg179Ser) n.675G>T c.528G>T (p.Arg176Ser) n.2894G>T c.-1714G>T (n.-1714G>T) c.235G>T c.96G>T (p.Arg32Ser) c.561G>T (p.Arg187Ser) | |
| 13 | g.23358402C>G | CA387552016 | SACS | c.537G>C (p.Arg179Ser) n.675G>C c.528G>C (p.Arg176Ser) n.2894G>C c.-1714G>C (n.-1714G>C) c.235G>C c.96G>C (p.Arg32Ser) c.561G>C (p.Arg187Ser) | |
| 13 | g.23358402C>T | CA482922157 | SACS | c.537G>A (p.Arg179=) n.675G>A c.528G>A (p.Arg176=) n.2894G>A c.-1714G>A (n.-1714G>A) c.235G>A c.96G>A (p.Arg32=) c.561G>A (p.Arg187=) | |
| 13 | g.23358403C>A | CA387552019 | SACS | c.536G>T (p.Arg179Met) n.674G>T c.527G>T (p.Arg176Met) n.2893G>T c.-1715G>T (n.-1715G>T) c.234G>T c.95G>T (p.Arg32Met) c.560G>T (p.Arg187Met) | |
| 13 | g.23358403C>G | CA387552018 | SACS | c.536G>C (p.Arg179Thr) n.674G>C c.527G>C (p.Arg176Thr) n.2893G>C c.-1715G>C (n.-1715G>C) c.234G>C c.95G>C (p.Arg32Thr) c.560G>C (p.Arg187Thr) | |
| 13 | g.23358403C>T | CA387552017 | SACS | c.536G>A (p.Arg179Lys) n.674G>A c.527G>A (p.Arg176Lys) n.2893G>A c.-1715G>A (n.-1715G>A) c.234G>A c.95G>A (p.Arg32Lys) c.560G>A (p.Arg187Lys) | |
| 13 | g.23358404T>A | CA387552020 | SACS | c.535A>T (p.Arg179Trp) n.673A>T c.526A>T (p.Arg176Trp) n.2892A>T c.-1716A>T (n.-1716A>T) c.233A>T c.94A>T (p.Arg32Trp) c.559A>T (p.Arg187Trp) |