Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23358403C>ACA387552019SACSc.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)
13g.23358403C>GCA387552018SACSc.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)
13g.23358403C>TCA387552017SACSc.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)
13g.23358404T>ACA387552020SACSc.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)
13g.23358404T>CCA6912061SACSc.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
13g.23358404T>GCA482922163SACSc.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=)
13g.23358404T=CA2078636481SACSc.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=)
13g.23358405G>ACA482922165SACSc.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=)
13g.23358405G>CCA387552021SACSc.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)
13g.23358405G>TCA387552022SACSc.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)
13g.23358406C>ACA387552023SACSc.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)
13g.23358406C>GCA387552024SACSc.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)
13g.23358406C>TCA387552025SACSc.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
13g.23358407T>ACA387552026SACSc.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)
13g.23358407T>CCA387552027SACSc.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)
13g.23358407T>GCA387552028SACSc.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)
13g.23358408T>ACA387552029SACSc.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)
13g.23358408T>CCA482922177SACSc.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
13g.23358408T>GCA387552030SACSc.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)
13g.23358409C>ACA387552033SACSc.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)
13g.23358409C>GCA387552032SACSc.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)
13g.23358409C>TCA387552031SACSc.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)
13g.23358410T>ACA387552034SACSc.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
13g.23358410T>CCA387552035SACSc.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)
13g.23358410T>GCA482922185SACSc.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=)
13g.23358411T>ACA482922193SACSc.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=)
13g.23358411T>CCA482922195SACSc.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
13g.23358411T>GCA482922197SACSc.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=)
13g.23358411T=CA2078636484SACSc.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=)
13g.23358412G>ACA387552036SACSc.527C>T (p.Ala176Val)
n.665C>T
c.518C>T (p.Ala173Val)
n.2884C>T
c.-1724C>T (n.-1724C>T)
c.225C>T
c.86C>T (p.Ala29Val)
c.551C>T (p.Ala184Val)
13g.23358412G>CCA387552037SACSc.527C>G (p.Ala176Gly)
n.665C>G
c.518C>G (p.Ala173Gly)
n.2884C>G
c.-1724C>G (n.-1724C>G)
c.225C>G
c.86C>G (p.Ala29Gly)
c.551C>G (p.Ala184Gly)
13g.23358412G>TCA387552038SACSc.527C>A (p.Ala176Glu)
n.665C>A
c.518C>A (p.Ala173Glu)
n.2884C>A
c.-1724C>A (n.-1724C>A)
c.225C>A
c.86C>A (p.Ala29Glu)
c.551C>A (p.Ala184Glu)
13g.23358413C>ACA387552039SACSc.526G>T (p.Ala176Ser)
n.664G>T
c.517G>T (p.Ala173Ser)
n.2883G>T
c.-1725G>T (n.-1725G>T)
c.224G>T
c.85G>T (p.Ala29Ser)
c.550G>T (p.Ala184Ser)
13g.23358413C>GCA387552040SACSc.526G>C (p.Ala176Pro)
n.664G>C
c.517G>C (p.Ala173Pro)
n.2883G>C
c.-1725G>C (n.-1725G>C)
c.224G>C
c.85G>C (p.Ala29Pro)
c.550G>C (p.Ala184Pro)
13g.23358413C>TCA387552041SACSc.526G>A (p.Ala176Thr)
n.664G>A
c.517G>A (p.Ala173Thr)
n.2883G>A
c.-1725G>A (n.-1725G>A)
c.224G>A
c.85G>A (p.Ala29Thr)
c.550G>A (p.Ala184Thr)
13g.23358414T>ACA482922203SACSc.525A>T (p.Ile175=)
n.663A>T
c.516A>T (p.Ile172=)
n.2882A>T
c.-1726A>T (n.-1726A>T)
c.223A>T
c.84A>T (p.Ile28=)
c.549A>T (p.Ile183=)
13g.23358414T>CCA387552042SACSc.525A>G (p.Ile175Met)
n.663A>G
c.516A>G (p.Ile172Met)
n.2882A>G
c.-1726A>G (n.-1726A>G)
c.223A>G
c.84A>G (p.Ile28Met)
c.549A>G (p.Ile183Met)
13g.23358414T>GCA482922206SACSc.525A>C (p.Ile175=)
n.663A>C
c.516A>C (p.Ile172=)
n.2882A>C
c.-1726A>C (n.-1726A>C)
c.223A>C
c.84A>C (p.Ile28=)
c.549A>C (p.Ile183=)
13g.23358415A>CCA387552043SACSc.524T>G (p.Ile175Arg)
n.662T>G
c.515T>G (p.Ile172Arg)
n.2881T>G
c.-1727T>G (n.-1727T>G)
c.222T>G
c.83T>G (p.Ile28Arg)
c.548T>G (p.Ile183Arg)
13g.23358415A>GCA387552044SACSc.524T>C (p.Ile175Thr)
n.662T>C
c.515T>C (p.Ile172Thr)
n.2881T>C
c.-1727T>C (n.-1727T>C)
c.222T>C
c.83T>C (p.Ile28Thr)
c.548T>C (p.Ile183Thr)
13g.23358415A>TCA387552045SACSc.524T>A (p.Ile175Lys)
n.662T>A
c.515T>A (p.Ile172Lys)
n.2881T>A
c.-1727T>A (n.-1727T>A)
c.222T>A
c.83T>A (p.Ile28Lys)
c.548T>A (p.Ile183Lys)
13g.23358416T>ACA387552048SACSc.523A>T (p.Ile175Leu)
n.661A>T
c.514A>T (p.Ile172Leu)
n.2880A>T
c.-1728A>T (n.-1728A>T)
c.221A>T
c.82A>T (p.Ile28Leu)
c.547A>T (p.Ile183Leu)
13g.23358416T>CCA387552047SACSc.523A>G (p.Ile175Val)
n.661A>G
c.514A>G (p.Ile172Val)
n.2880A>G
c.-1728A>G (n.-1728A>G)
c.221A>G
c.82A>G (p.Ile28Val)
c.547A>G (p.Ile183Val)
13g.23358416T>GCA387552046SACSc.523A>C (p.Ile175Leu)
n.661A>C
c.514A>C (p.Ile172Leu)
n.2880A>C
c.-1728A>C (n.-1728A>C)
c.221A>C
c.82A>C (p.Ile28Leu)
c.547A>C (p.Ile183Leu)
13g.23358417T>ACA387552049SACSc.522A>T (p.Glu174Asp)
n.660A>T
c.513A>T (p.Glu171Asp)
n.2879A>T
c.-1729A>T (n.-1729A>T)
c.220A>T
c.81A>T (p.Glu27Asp)
c.546A>T (p.Glu182Asp)
13g.23358417T>CCA482922223SACSc.522A>G (p.Glu174=)
n.660A>G
c.513A>G (p.Glu171=)
n.2879A>G
c.-1729A>G (n.-1729A>G)
c.220A>G
c.81A>G (p.Glu27=)
c.546A>G (p.Glu182=)
13g.23358417T>GCA387552050SACSc.522A>C (p.Glu174Asp)
n.660A>C
c.513A>C (p.Glu171Asp)
n.2879A>C
c.-1729A>C (n.-1729A>C)
c.220A>C
c.81A>C (p.Glu27Asp)
c.546A>C (p.Glu182Asp)
13g.23358417_23358418insAGAAAATATTATACA2518850541SACSc.521_522insTATAATATTTTCT (p.Glu174AspfsTer14)
n.659_660insTATAATATTTTCT
c.512_513insTATAATATTTTCT (p.Glu171AspfsTer14)
n.2878_2879insTATAATATTTTCT
c.-1730_-1729insTATAATATTTTCT (n.-1730_-1729insTATAATATTTTCT)
c.219_220insTATAATATTTTCT
c.80_81insTATAATATTTTCT (p.Glu27AspfsTer14)
c.545_546insTATAATATTTTCT (p.Glu182AspfsTer14)
13g.23358418T>ACA387552051SACSc.521A>T (p.Glu174Val)
n.659A>T
c.512A>T (p.Glu171Val)
n.2878A>T
c.-1730A>T (n.-1730A>T)
c.219A>T
c.80A>T (p.Glu27Val)
c.545A>T (p.Glu182Val)
13g.23358418T>CCA387552052SACSc.521A>G (p.Glu174Gly)
n.659A>G
c.512A>G (p.Glu171Gly)
n.2878A>G
c.-1730A>G (n.-1730A>G)
c.219A>G
c.80A>G (p.Glu27Gly)
c.545A>G (p.Glu182Gly)

Number of alleles fetched