Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
13g.23358418T>GCA387552053SACSc.521A>C (p.Glu174Ala)
n.659A>C
c.512A>C (p.Glu171Ala)
n.2878A>C
c.-1730A>C (n.-1730A>C)
c.219A>C
c.80A>C (p.Glu27Ala)
c.545A>C (p.Glu182Ala)
13g.23358419C>ACA387552054SACSc.520G>T (p.Glu174Ter)
n.658G>T
c.511G>T (p.Glu171Ter)
n.2877G>T
c.-1731G>T (n.-1731G>T)
c.218G>T
c.79G>T (p.Glu27Ter)
c.544G>T (p.Glu182Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.23358419C>GCA387552055SACSc.520G>C (p.Glu174Gln)
n.658G>C
c.511G>C (p.Glu171Gln)
n.2877G>C
c.-1731G>C (n.-1731G>C)
c.218G>C
c.79G>C (p.Glu27Gln)
c.544G>C (p.Glu182Gln)
13g.23358419C>TCA387552056SACSc.520G>A (p.Glu174Lys)
n.658G>A
c.511G>A (p.Glu171Lys)
n.2877G>A
c.-1731G>A (n.-1731G>A)
c.218G>A
c.79G>A (p.Glu27Lys)
c.544G>A (p.Glu182Lys)
13g.23358420T>ACA387552057SACSc.519A>T (p.Gln173His)
n.657A>T
c.510A>T (p.Gln170His)
n.2876A>T
c.-1732A>T (n.-1732A>T)
c.217A>T
c.78A>T (p.Gln26His)
c.543A>T (p.Gln181His)
13g.23358420T>CCA482922236SACSc.519A>G (p.Gln173=)
n.657A>G
c.510A>G (p.Gln170=)
n.2876A>G
c.-1732A>G (n.-1732A>G)
c.217A>G
c.78A>G (p.Gln26=)
c.543A>G (p.Gln181=)
 ClinVar COSMIC COSMIC
13g.23358420T>GCA387552058SACSc.519A>C (p.Gln173His)
n.657A>C
c.510A>C (p.Gln170His)
n.2876A>C
c.-1732A>C (n.-1732A>C)
c.217A>C
c.78A>C (p.Gln26His)
c.543A>C (p.Gln181His)
13g.23358421T>ACA387552059SACSc.518A>T (p.Gln173Leu)
n.656A>T
c.509A>T (p.Gln170Leu)
n.2875A>T
c.-1733A>T (n.-1733A>T)
c.216A>T
c.77A>T (p.Gln26Leu)
c.542A>T (p.Gln181Leu)
13g.23358421T>CCA387552060SACSc.518A>G (p.Gln173Arg)
n.656A>G
c.509A>G (p.Gln170Arg)
n.2875A>G
c.-1733A>G (n.-1733A>G)
c.216A>G
c.77A>G (p.Gln26Arg)
c.542A>G (p.Gln181Arg)
13g.23358421T>GCA387552061SACSc.518A>C (p.Gln173Pro)
n.656A>C
c.509A>C (p.Gln170Pro)
n.2875A>C
c.-1733A>C (n.-1733A>C)
c.216A>C
c.77A>C (p.Gln26Pro)
c.542A>C (p.Gln181Pro)
13g.23358421_23358422insACATTCTCA2529349850SACSc.518_519insGAATGTA (p.Glu174AsnfsTer12)
n.656_657insGAATGTA
c.509_510insGAATGTA (p.Glu171AsnfsTer12)
n.2875_2876insGAATGTA
c.-1733_-1732insGAATGTA (n.-1733_-1732insGAATGTA)
c.216_217insGAATGTA
c.77_78insGAATGTA (p.Glu27AsnfsTer12)
c.542_543insGAATGTA (p.Glu182AsnfsTer12)
13g.23358422G>ACA387552062SACSc.517C>T (p.Gln173Ter)
n.655C>T
c.508C>T (p.Gln170Ter)
n.2874C>T
c.-1734C>T (n.-1734C>T)
c.215C>T
c.76C>T (p.Gln26Ter)
c.541C>T (p.Gln181Ter)
 ClinVar dbSNP
13g.23358422G>CCA387552063SACSc.517C>G (p.Gln173Glu)
n.655C>G
c.508C>G (p.Gln170Glu)
n.2874C>G
c.-1734C>G (n.-1734C>G)
c.215C>G
c.76C>G (p.Gln26Glu)
c.541C>G (p.Gln181Glu)
13g.23358422G=CA2078636488SACSc.517C= (p.Gln173=)
n.655C=
c.508C= (p.Gln170=)
n.2874C=
c.-1734C= (n.-1734C=)
c.215C=
c.76C= (p.Gln26=)
c.541C= (p.Gln181=)
13g.23358422G>TCA387552064SACSc.517C>A (p.Gln173Lys)
n.655C>A
c.508C>A (p.Gln170Lys)
n.2874C>A
c.-1734C>A (n.-1734C>A)
c.215C>A
c.76C>A (p.Gln26Lys)
c.541C>A (p.Gln181Lys)
13g.23358422_23358423insTCA2563069573SACSc.516_517insA (p.Gln173ThrfsTer11)
n.654_655insA
c.507_508insA (p.Gln170ThrfsTer11)
n.2873_2874insA
c.-1735_-1734insA (n.-1735_-1734insA)
c.214_215insA
c.75_76insA (p.Gln26ThrfsTer11)
c.540_541insA (p.Gln181ThrfsTer11)
13g.23358423A>CCA387552065SACSc.516T>G (p.Ile172Met)
n.654T>G
c.507T>G (p.Ile169Met)
n.2873T>G
c.-1735T>G (n.-1735T>G)
c.214T>G
c.75T>G (p.Ile25Met)
c.540T>G (p.Ile180Met)
13g.23358423A>GCA482922253SACSc.516T>C (p.Ile172=)
n.654T>C
c.507T>C (p.Ile169=)
n.2873T>C
c.-1735T>C (n.-1735T>C)
c.214T>C
c.75T>C (p.Ile25=)
c.540T>C (p.Ile180=)
13g.23358423A>TCA482922256SACSc.516T>A (p.Ile172=)
n.654T>A
c.507T>A (p.Ile169=)
n.2873T>A
c.-1735T>A (n.-1735T>A)
c.214T>A
c.75T>A (p.Ile25=)
c.540T>A (p.Ile180=)
13g.23358424A>CCA387552066SACSc.515T>G (p.Ile172Ser)
n.653T>G
c.506T>G (p.Ile169Ser)
n.2872T>G
c.-1736T>G (n.-1736T>G)
c.213T>G
c.74T>G (p.Ile25Ser)
c.539T>G (p.Ile180Ser)
13g.23358424A>GCA387552067SACSc.515T>C (p.Ile172Thr)
n.653T>C
c.506T>C (p.Ile169Thr)
n.2872T>C
c.-1736T>C (n.-1736T>C)
c.213T>C
c.74T>C (p.Ile25Thr)
c.539T>C (p.Ile180Thr)
13g.23358424A>TCA387552068SACSc.515T>A (p.Ile172Asn)
n.653T>A
c.506T>A (p.Ile169Asn)
n.2872T>A
c.-1736T>A (n.-1736T>A)
c.213T>A
c.74T>A (p.Ile25Asn)
c.539T>A (p.Ile180Asn)
13g.23358425T>ACA387552069SACSc.514A>T (p.Ile172Phe)
n.652A>T
c.505A>T (p.Ile169Phe)
n.2871A>T
c.-1737A>T (n.-1737A>T)
c.212A>T
c.73A>T (p.Ile25Phe)
c.538A>T (p.Ile180Phe)
13g.23358425T>CCA387552070SACSc.514A>G (p.Ile172Val)
n.652A>G
c.505A>G (p.Ile169Val)
n.2871A>G
c.-1737A>G (n.-1737A>G)
c.212A>G
c.73A>G (p.Ile25Val)
c.538A>G (p.Ile180Val)
13g.23358425T>GCA387552071SACSc.514A>C (p.Ile172Leu)
n.652A>C
c.505A>C (p.Ile169Leu)
n.2871A>C
c.-1737A>C (n.-1737A>C)
c.212A>C
c.73A>C (p.Ile25Leu)
c.538A>C (p.Ile180Leu)

Number of alleles fetched