| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 13 | g.23358404T>C | CA6912061 | SACS | c.535A>G (p.Arg179Gly) n.673A>G c.526A>G (p.Arg176Gly) n.2892A>G c.-1716A>G (n.-1716A>G) c.233A>G c.94A>G (p.Arg32Gly) c.559A>G (p.Arg187Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23358404T>G | CA482922163 | SACS | c.535A>C (p.Arg179=) n.673A>C c.526A>C (p.Arg176=) n.2892A>C c.-1716A>C (n.-1716A>C) c.233A>C c.94A>C (p.Arg32=) c.559A>C (p.Arg187=) | |
| 13 | g.23358404T= | CA2078636481 | SACS | c.535A= (p.Arg179=) n.673A= c.526A= (p.Arg176=) n.2892A= c.-1716A= (n.-1716A=) c.233A= c.94A= (p.Arg32=) c.559A= (p.Arg187=) | |
| 13 | g.23358405G>A | CA482922165 | SACS | c.534C>T (p.Ser178=) n.672C>T c.525C>T (p.Ser175=) n.2891C>T c.-1717C>T (n.-1717C>T) c.232C>T c.93C>T (p.Ser31=) c.558C>T (p.Ser186=) | |
| 13 | g.23358405G>C | CA387552021 | SACS | c.534C>G (p.Ser178Arg) n.672C>G c.525C>G (p.Ser175Arg) n.2891C>G c.-1717C>G (n.-1717C>G) c.232C>G c.93C>G (p.Ser31Arg) c.558C>G (p.Ser186Arg) | |
| 13 | g.23358405G>T | CA387552022 | SACS | c.534C>A (p.Ser178Arg) n.672C>A c.525C>A (p.Ser175Arg) n.2891C>A c.-1717C>A (n.-1717C>A) c.232C>A c.93C>A (p.Ser31Arg) c.558C>A (p.Ser186Arg) | |
| 13 | g.23358406C>A | CA387552023 | SACS | c.533G>T (p.Ser178Ile) n.671G>T c.524G>T (p.Ser175Ile) n.2890G>T c.-1718G>T (n.-1718G>T) c.231G>T c.92G>T (p.Ser31Ile) c.557G>T (p.Ser186Ile) | |
| 13 | g.23358406C>G | CA387552024 | SACS | c.533G>C (p.Ser178Thr) n.671G>C c.524G>C (p.Ser175Thr) n.2890G>C c.-1718G>C (n.-1718G>C) c.231G>C c.92G>C (p.Ser31Thr) c.557G>C (p.Ser186Thr) | |
| 13 | g.23358406C>T | CA387552025 | SACS | c.533G>A (p.Ser178Asn) n.671G>A c.524G>A (p.Ser175Asn) n.2890G>A c.-1718G>A (n.-1718G>A) c.231G>A c.92G>A (p.Ser31Asn) c.557G>A (p.Ser186Asn) | gnomAD v4 |
| 13 | g.23358407T>A | CA387552026 | SACS | c.532A>T (p.Ser178Cys) n.670A>T c.523A>T (p.Ser175Cys) n.2889A>T c.-1719A>T (n.-1719A>T) c.230A>T c.91A>T (p.Ser31Cys) c.556A>T (p.Ser186Cys) | |
| 13 | g.23358407T>C | CA387552027 | SACS | c.532A>G (p.Ser178Gly) n.670A>G c.523A>G (p.Ser175Gly) n.2889A>G c.-1719A>G (n.-1719A>G) c.230A>G c.91A>G (p.Ser31Gly) c.556A>G (p.Ser186Gly) | |
| 13 | g.23358407T>G | CA387552028 | SACS | c.532A>C (p.Ser178Arg) n.670A>C c.523A>C (p.Ser175Arg) n.2889A>C c.-1719A>C (n.-1719A>C) c.230A>C c.91A>C (p.Ser31Arg) c.556A>C (p.Ser186Arg) | |
| 13 | g.23358408T>A | CA387552029 | SACS | c.531A>T (p.Arg177Ser) n.669A>T c.522A>T (p.Arg174Ser) n.2888A>T c.-1720A>T (n.-1720A>T) c.229A>T c.90A>T (p.Arg30Ser) c.555A>T (p.Arg185Ser) | |
| 13 | g.23358408T>C | CA482922177 | SACS | c.531A>G (p.Arg177=) n.669A>G c.522A>G (p.Arg174=) n.2888A>G c.-1720A>G (n.-1720A>G) c.229A>G c.90A>G (p.Arg30=) c.555A>G (p.Arg185=) | gnomAD v4 |
| 13 | g.23358408T>G | CA387552030 | SACS | c.531A>C (p.Arg177Ser) n.669A>C c.522A>C (p.Arg174Ser) n.2888A>C c.-1720A>C (n.-1720A>C) c.229A>C c.90A>C (p.Arg30Ser) c.555A>C (p.Arg185Ser) | |
| 13 | g.23358409C>A | CA387552033 | SACS | c.530G>T (p.Arg177Ile) n.668G>T c.521G>T (p.Arg174Ile) n.2887G>T c.-1721G>T (n.-1721G>T) c.228G>T c.89G>T (p.Arg30Ile) c.554G>T (p.Arg185Ile) | |
| 13 | g.23358409C>G | CA387552032 | SACS | c.530G>C (p.Arg177Thr) n.668G>C c.521G>C (p.Arg174Thr) n.2887G>C c.-1721G>C (n.-1721G>C) c.228G>C c.89G>C (p.Arg30Thr) c.554G>C (p.Arg185Thr) | |
| 13 | g.23358409C>T | CA387552031 | SACS | c.530G>A (p.Arg177Lys) n.668G>A c.521G>A (p.Arg174Lys) n.2887G>A c.-1721G>A (n.-1721G>A) c.228G>A c.89G>A (p.Arg30Lys) c.554G>A (p.Arg185Lys) | |
| 13 | g.23358410T>A | CA387552034 | SACS | c.529A>T (p.Arg177Ter) n.667A>T c.520A>T (p.Arg174Ter) n.2886A>T c.-1722A>T (n.-1722A>T) c.227A>T c.88A>T (p.Arg30Ter) c.553A>T (p.Arg185Ter) | ClinVar |
| 13 | g.23358410T>C | CA387552035 | SACS | c.529A>G (p.Arg177Gly) n.667A>G c.520A>G (p.Arg174Gly) n.2886A>G c.-1722A>G (n.-1722A>G) c.227A>G c.88A>G (p.Arg30Gly) c.553A>G (p.Arg185Gly) | |
| 13 | g.23358410T>G | CA482922185 | SACS | c.529A>C (p.Arg177=) n.667A>C c.520A>C (p.Arg174=) n.2886A>C c.-1722A>C (n.-1722A>C) c.227A>C c.88A>C (p.Arg30=) c.553A>C (p.Arg185=) | |
| 13 | g.23358411T>A | CA482922193 | SACS | c.528A>T (p.Ala176=) n.666A>T c.519A>T (p.Ala173=) n.2885A>T c.-1723A>T (n.-1723A>T) c.226A>T c.87A>T (p.Ala29=) c.552A>T (p.Ala184=) | |
| 13 | g.23358411T>C | CA482922195 | SACS | c.528A>G (p.Ala176=) n.666A>G c.519A>G (p.Ala173=) n.2885A>G c.-1723A>G (n.-1723A>G) c.226A>G c.87A>G (p.Ala29=) c.552A>G (p.Ala184=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23358411T>G | CA482922197 | SACS | c.528A>C (p.Ala176=) n.666A>C c.519A>C (p.Ala173=) n.2885A>C c.-1723A>C (n.-1723A>C) c.226A>C c.87A>C (p.Ala29=) c.552A>C (p.Ala184=) | |
| 13 | g.23358411T= | CA2078636484 | SACS | c.528A= (p.Ala176=) n.666A= c.519A= (p.Ala173=) n.2885A= c.-1723A= (n.-1723A=) c.226A= c.87A= (p.Ala29=) c.552A= (p.Ala184=) |