Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23337328A>CCA387521466SACSc.6548T>G (p.Leu2183Arg)
c.2186-7844T>G (p.=)
c.2431+4117T>G (p.=)
c.4298T>G (p.Leu1433Arg)
n.1058-7844T>G (p.=)
n.2129+4117T>G
c.6107T>G (p.Leu2036Arg)
c.6575T>G (p.Leu2192Arg)
c.6599T>G (p.Leu2200Arg)
c.6566T>G (p.Leu2189Arg)
c.6539T>G (p.Leu2180Arg)
13g.23337328A>GCA387521470SACSc.6548T>C (p.Leu2183Pro)
c.2186-7844T>C (p.=)
c.2431+4117T>C (p.=)
c.4298T>C (p.Leu1433Pro)
n.1058-7844T>C (p.=)
n.2129+4117T>C
c.6107T>C (p.Leu2036Pro)
c.6575T>C (p.Leu2192Pro)
c.6599T>C (p.Leu2200Pro)
c.6566T>C (p.Leu2189Pro)
c.6539T>C (p.Leu2180Pro)
13g.23337328A>TCA387521468SACSc.6548T>A (p.Leu2183Gln)
c.2186-7844T>A (p.=)
c.2431+4117T>A (p.=)
c.4298T>A (p.Leu1433Gln)
n.1058-7844T>A (p.=)
n.2129+4117T>A
c.6107T>A (p.Leu2036Gln)
c.6575T>A (p.Leu2192Gln)
c.6599T>A (p.Leu2200Gln)
c.6566T>A (p.Leu2189Gln)
c.6539T>A (p.Leu2180Gln)
13g.23337329G>ACA483161145SACSc.6547C>T (p.Leu2183=)
c.2186-7845C>T (p.=)
c.2431+4116C>T (p.=)
c.4297C>T (p.Leu1433=)
n.1058-7845C>T (p.=)
n.2129+4116C>T
c.6106C>T (p.Leu2036=)
c.6574C>T (p.Leu2192=)
c.6598C>T (p.Leu2200=)
c.6565C>T (p.Leu2189=)
c.6538C>T (p.Leu2180=)
13g.23337329G>CCA387521471SACSc.6547C>G (p.Leu2183Val)
c.2186-7845C>G (p.=)
c.2431+4116C>G (p.=)
c.4297C>G (p.Leu1433Val)
n.1058-7845C>G (p.=)
n.2129+4116C>G
c.6106C>G (p.Leu2036Val)
c.6574C>G (p.Leu2192Val)
c.6598C>G (p.Leu2200Val)
c.6565C>G (p.Leu2189Val)
c.6538C>G (p.Leu2180Val)
13g.23337329G>TCA387521473SACSc.6547C>A (p.Leu2183Ile)
c.2186-7845C>A (p.=)
c.2431+4116C>A (p.=)
c.4297C>A (p.Leu1433Ile)
n.1058-7845C>A (p.=)
n.2129+4116C>A
c.6106C>A (p.Leu2036Ile)
c.6574C>A (p.Leu2192Ile)
c.6598C>A (p.Leu2200Ile)
c.6565C>A (p.Leu2189Ile)
c.6538C>A (p.Leu2180Ile)
13g.23337330G>ACA483161148SACSc.6546C>T (p.Cys2182=)
c.2186-7846C>T (p.=)
c.2431+4115C>T (p.=)
c.4296C>T (p.Cys1432=)
n.1058-7846C>T (p.=)
n.2129+4115C>T
c.6105C>T (p.Cys2035=)
c.6573C>T (p.Cys2191=)
c.6597C>T (p.Cys2199=)
c.6564C>T (p.Cys2188=)
c.6537C>T (p.Cys2179=)
gnomAD
13g.23337330G>CCA387521475SACSc.6546C>G (p.Cys2182Trp)
c.2186-7846C>G (p.=)
c.2431+4115C>G (p.=)
c.4296C>G (p.Cys1432Trp)
n.1058-7846C>G (p.=)
n.2129+4115C>G
c.6105C>G (p.Cys2035Trp)
c.6573C>G (p.Cys2191Trp)
c.6597C>G (p.Cys2199Trp)
c.6564C>G (p.Cys2188Trp)
c.6537C>G (p.Cys2179Trp)
13g.23337330G=CA2078627377SACSc.6546C= (p.Cys2182=)
c.2186-7846C= (p.=)
c.2431+4115C= (p.=)
c.4296C= (p.Cys1432=)
n.1058-7846C= (p.=)
n.2129+4115C=
c.6105C= (p.Cys2035=)
c.6573C= (p.Cys2191=)
c.6597C= (p.Cys2199=)
c.6564C= (p.Cys2188=)
c.6537C= (p.Cys2179=)
13g.23337330G>TCA387521477SACSc.6546C>A (p.Cys2182Ter)
c.2186-7846C>A (p.=)
c.2431+4115C>A (p.=)
c.4296C>A (p.Cys1432Ter)
n.1058-7846C>A (p.=)
n.2129+4115C>A
c.6105C>A (p.Cys2035Ter)
c.6573C>A (p.Cys2191Ter)
c.6597C>A (p.Cys2199Ter)
c.6564C>A (p.Cys2188Ter)
c.6537C>A (p.Cys2179Ter)
13g.23337331C>ACA387521479SACSc.6545G>T (p.Cys2182Phe)
c.2186-7847G>T (p.=)
c.2431+4114G>T (p.=)
c.4295G>T (p.Cys1432Phe)
n.1058-7847G>T (p.=)
n.2129+4114G>T
c.6104G>T (p.Cys2035Phe)
c.6572G>T (p.Cys2191Phe)
c.6596G>T (p.Cys2199Phe)
c.6563G>T (p.Cys2188Phe)
c.6536G>T (p.Cys2179Phe)
13g.23337331C=CA2078627378SACSc.6545G= (p.Cys2182=)
c.2186-7847G= (p.=)
c.2431+4114G= (p.=)
c.4295G= (p.Cys1432=)
n.1058-7847G= (p.=)
n.2129+4114G=
c.6104G= (p.Cys2035=)
c.6572G= (p.Cys2191=)
c.6596G= (p.Cys2199=)
c.6563G= (p.Cys2188=)
c.6536G= (p.Cys2179=)
13g.23337331C>GCA387521481SACSc.6545G>C (p.Cys2182Ser)
c.2186-7847G>C (p.=)
c.2431+4114G>C (p.=)
c.4295G>C (p.Cys1432Ser)
n.1058-7847G>C (p.=)
n.2129+4114G>C
c.6104G>C (p.Cys2035Ser)
c.6572G>C (p.Cys2191Ser)
c.6596G>C (p.Cys2199Ser)
c.6563G>C (p.Cys2188Ser)
c.6536G>C (p.Cys2179Ser)
13g.23337331C>TCA387521482SACSc.6545G>A (p.Cys2182Tyr)
c.2186-7847G>A (p.=)
c.2431+4114G>A (p.=)
c.4295G>A (p.Cys1432Tyr)
n.1058-7847G>A (p.=)
n.2129+4114G>A
c.6104G>A (p.Cys2035Tyr)
c.6572G>A (p.Cys2191Tyr)
c.6596G>A (p.Cys2199Tyr)
c.6563G>A (p.Cys2188Tyr)
c.6536G>A (p.Cys2179Tyr)
13g.23337332A=CA2078627381SACSc.6544T= (p.Cys2182=)
c.2186-7848T= (p.=)
c.2431+4113T= (p.=)
c.4294T= (p.Cys1432=)
n.1058-7848T= (p.=)
n.2129+4113T=
c.6103T= (p.Cys2035=)
c.6571T= (p.Cys2191=)
c.6595T= (p.Cys2199=)
c.6562T= (p.Cys2188=)
c.6535T= (p.Cys2179=)
13g.23337332A>CCA387521484SACSc.6544T>G (p.Cys2182Gly)
c.2186-7848T>G (p.=)
c.2431+4113T>G (p.=)
c.4294T>G (p.Cys1432Gly)
n.1058-7848T>G (p.=)
n.2129+4113T>G
c.6103T>G (p.Cys2035Gly)
c.6571T>G (p.Cys2191Gly)
c.6595T>G (p.Cys2199Gly)
c.6562T>G (p.Cys2188Gly)
c.6535T>G (p.Cys2179Gly)
13g.23337332A>GCA387521486SACSc.6544T>C (p.Cys2182Arg)
c.2186-7848T>C (p.=)
c.2431+4113T>C (p.=)
c.4294T>C (p.Cys1432Arg)
n.1058-7848T>C (p.=)
n.2129+4113T>C
c.6103T>C (p.Cys2035Arg)
c.6571T>C (p.Cys2191Arg)
c.6595T>C (p.Cys2199Arg)
c.6562T>C (p.Cys2188Arg)
c.6535T>C (p.Cys2179Arg)
13g.23337332A>TCA387521488SACSc.6544T>A (p.Cys2182Ser)
c.2186-7848T>A (p.=)
c.2431+4113T>A (p.=)
c.4294T>A (p.Cys1432Ser)
n.1058-7848T>A (p.=)
n.2129+4113T>A
c.6103T>A (p.Cys2035Ser)
c.6571T>A (p.Cys2191Ser)
c.6595T>A (p.Cys2199Ser)
c.6562T>A (p.Cys2188Ser)
c.6535T>A (p.Cys2179Ser)
13g.23337333T>ACA6911065SACSc.6543A>T (p.Ala2181=)
c.2186-7849A>T (p.=)
c.2431+4112A>T (p.=)
c.4293A>T (p.Ala1431=)
n.1058-7849A>T (p.=)
n.2129+4112A>T
c.6102A>T (p.Ala2034=)
c.6570A>T (p.Ala2190=)
c.6594A>T (p.Ala2198=)
c.6561A>T (p.Ala2187=)
c.6534A>T (p.Ala2178=)
dbSNP ExAC gnomAD
13g.23337333T>CCA483161155SACSc.6543A>G (p.Ala2181=)
c.2186-7849A>G (p.=)
c.2431+4112A>G (p.=)
c.4293A>G (p.Ala1431=)
n.1058-7849A>G (p.=)
n.2129+4112A>G
c.6102A>G (p.Ala2034=)
c.6570A>G (p.Ala2190=)
c.6594A>G (p.Ala2198=)
c.6561A>G (p.Ala2187=)
c.6534A>G (p.Ala2178=)
13g.23337333T>GCA483161160SACSc.6543A>C (p.Ala2181=)
c.2186-7849A>C (p.=)
c.2431+4112A>C (p.=)
c.4293A>C (p.Ala1431=)
n.1058-7849A>C (p.=)
n.2129+4112A>C
c.6102A>C (p.Ala2034=)
c.6570A>C (p.Ala2190=)
c.6594A>C (p.Ala2198=)
c.6561A>C (p.Ala2187=)
c.6534A>C (p.Ala2178=)
13g.23337333T=CA2078627383SACSc.6543A= (p.Ala2181=)
c.2186-7849A= (p.=)
c.2431+4112A= (p.=)
c.4293A= (p.Ala1431=)
n.1058-7849A= (p.=)
n.2129+4112A=
c.6102A= (p.Ala2034=)
c.6570A= (p.Ala2190=)
c.6594A= (p.Ala2198=)
c.6561A= (p.Ala2187=)
c.6534A= (p.Ala2178=)
13g.23337334G>ACA246657975SACSc.6542C>T (p.Ala2181Val)
c.2186-7850C>T (p.=)
c.2431+4111C>T (p.=)
c.4292C>T (p.Ala1431Val)
n.1058-7850C>T (p.=)
n.2129+4111C>T
c.6101C>T (p.Ala2034Val)
c.6569C>T (p.Ala2190Val)
c.6593C>T (p.Ala2198Val)
c.6560C>T (p.Ala2187Val)
c.6533C>T (p.Ala2178Val)
dbSNP gnomAD
13g.23337334G>CCA387521492SACSc.6542C>G (p.Ala2181Gly)
c.2186-7850C>G (p.=)
c.2431+4111C>G (p.=)
c.4292C>G (p.Ala1431Gly)
n.1058-7850C>G (p.=)
n.2129+4111C>G
c.6101C>G (p.Ala2034Gly)
c.6569C>G (p.Ala2190Gly)
c.6593C>G (p.Ala2198Gly)
c.6560C>G (p.Ala2187Gly)
c.6533C>G (p.Ala2178Gly)
13g.23337334G=CA2078627385SACSc.6542C= (p.Ala2181=)
c.2186-7850C= (p.=)
c.2431+4111C= (p.=)
c.4292C= (p.Ala1431=)
n.1058-7850C= (p.=)
n.2129+4111C=
c.6101C= (p.Ala2034=)
c.6569C= (p.Ala2190=)
c.6593C= (p.Ala2198=)
c.6560C= (p.Ala2187=)
c.6533C= (p.Ala2178=)
13g.23337334G>TCA387521491SACSc.6542C>A (p.Ala2181Glu)
c.2186-7850C>A (p.=)
c.2431+4111C>A (p.=)
c.4292C>A (p.Ala1431Glu)
n.1058-7850C>A (p.=)
n.2129+4111C>A
c.6101C>A (p.Ala2034Glu)
c.6569C>A (p.Ala2190Glu)
c.6593C>A (p.Ala2198Glu)
c.6560C>A (p.Ala2187Glu)
c.6533C>A (p.Ala2178Glu)
13g.23337335C>ACA387521494SACSc.6541G>T (p.Ala2181Ser)
c.2186-7851G>T (p.=)
c.2431+4110G>T (p.=)
c.4291G>T (p.Ala1431Ser)
n.1058-7851G>T (p.=)
n.2129+4110G>T
c.6100G>T (p.Ala2034Ser)
c.6568G>T (p.Ala2190Ser)
c.6592G>T (p.Ala2198Ser)
c.6559G>T (p.Ala2187Ser)
c.6532G>T (p.Ala2178Ser)
13g.23337335C>GCA387521496SACSc.6541G>C (p.Ala2181Pro)
c.2186-7851G>C (p.=)
c.2431+4110G>C (p.=)
c.4291G>C (p.Ala1431Pro)
n.1058-7851G>C (p.=)
n.2129+4110G>C
c.6100G>C (p.Ala2034Pro)
c.6568G>C (p.Ala2190Pro)
c.6592G>C (p.Ala2198Pro)
c.6559G>C (p.Ala2187Pro)
c.6532G>C (p.Ala2178Pro)
13g.23337335C>TCA387521498SACSc.6541G>A (p.Ala2181Thr)
c.2186-7851G>A (p.=)
c.2431+4110G>A (p.=)
c.4291G>A (p.Ala1431Thr)
n.1058-7851G>A (p.=)
n.2129+4110G>A
c.6100G>A (p.Ala2034Thr)
c.6568G>A (p.Ala2190Thr)
c.6592G>A (p.Ala2198Thr)
c.6559G>A (p.Ala2187Thr)
c.6532G>A (p.Ala2178Thr)
13g.23337336A>CCA483161169SACSc.6540T>G (p.Ala2180=)
c.2186-7852T>G (p.=)
c.2431+4109T>G (p.=)
c.4290T>G (p.Ala1430=)
n.1058-7852T>G (p.=)
n.2129+4109T>G
c.6099T>G (p.Ala2033=)
c.6567T>G (p.Ala2189=)
c.6591T>G (p.Ala2197=)
c.6558T>G (p.Ala2186=)
c.6531T>G (p.Ala2177=)
13g.23337336A>GCA483161172SACSc.6540T>C (p.Ala2180=)
c.2186-7852T>C (p.=)
c.2431+4109T>C (p.=)
c.4290T>C (p.Ala1430=)
n.1058-7852T>C (p.=)
n.2129+4109T>C
c.6099T>C (p.Ala2033=)
c.6567T>C (p.Ala2189=)
c.6591T>C (p.Ala2197=)
c.6558T>C (p.Ala2186=)
c.6531T>C (p.Ala2177=)
13g.23337336A>TCA483161170SACSc.6540T>A (p.Ala2180=)
c.2186-7852T>A (p.=)
c.2431+4109T>A (p.=)
c.4290T>A (p.Ala1430=)
n.1058-7852T>A (p.=)
n.2129+4109T>A
c.6099T>A (p.Ala2033=)
c.6567T>A (p.Ala2189=)
c.6591T>A (p.Ala2197=)
c.6558T>A (p.Ala2186=)
c.6531T>A (p.Ala2177=)
13g.23337337G>ACA387521500SACSc.6539C>T (p.Ala2180Val)
c.2186-7853C>T (p.=)
c.2431+4108C>T (p.=)
c.4289C>T (p.Ala1430Val)
n.1058-7853C>T (p.=)
n.2129+4108C>T
c.6098C>T (p.Ala2033Val)
c.6566C>T (p.Ala2189Val)
c.6590C>T (p.Ala2197Val)
c.6557C>T (p.Ala2186Val)
c.6530C>T (p.Ala2177Val)
13g.23337337G>CCA387521501SACSc.6539C>G (p.Ala2180Gly)
c.2186-7853C>G (p.=)
c.2431+4108C>G (p.=)
c.4289C>G (p.Ala1430Gly)
n.1058-7853C>G (p.=)
n.2129+4108C>G
c.6098C>G (p.Ala2033Gly)
c.6566C>G (p.Ala2189Gly)
c.6590C>G (p.Ala2197Gly)
c.6557C>G (p.Ala2186Gly)
c.6530C>G (p.Ala2177Gly)
13g.23337337G=CA2078627390SACSc.6539C= (p.Ala2180=)
c.2186-7853C= (p.=)
c.2431+4108C= (p.=)
c.4289C= (p.Ala1430=)
n.1058-7853C= (p.=)
n.2129+4108C=
c.6098C= (p.Ala2033=)
c.6566C= (p.Ala2189=)
c.6590C= (p.Ala2197=)
c.6557C= (p.Ala2186=)
c.6530C= (p.Ala2177=)
13g.23337337G>TCA387521502SACSc.6539C>A (p.Ala2180Asp)
c.2186-7853C>A (p.=)
c.2431+4108C>A (p.=)
c.4289C>A (p.Ala1430Asp)
n.1058-7853C>A (p.=)
n.2129+4108C>A
c.6098C>A (p.Ala2033Asp)
c.6566C>A (p.Ala2189Asp)
c.6590C>A (p.Ala2197Asp)
c.6557C>A (p.Ala2186Asp)
c.6530C>A (p.Ala2177Asp)
13g.23337338C>ACA387521504SACSc.6538G>T (p.Ala2180Ser)
c.2186-7854G>T (p.=)
c.2431+4107G>T (p.=)
c.4288G>T (p.Ala1430Ser)
n.1058-7854G>T (p.=)
n.2129+4107G>T
c.6097G>T (p.Ala2033Ser)
c.6565G>T (p.Ala2189Ser)
c.6589G>T (p.Ala2197Ser)
c.6556G>T (p.Ala2186Ser)
c.6529G>T (p.Ala2177Ser)
13g.23337338C>GCA387521505SACSc.6538G>C (p.Ala2180Pro)
c.2186-7854G>C (p.=)
c.2431+4107G>C (p.=)
c.4288G>C (p.Ala1430Pro)
n.1058-7854G>C (p.=)
n.2129+4107G>C
c.6097G>C (p.Ala2033Pro)
c.6565G>C (p.Ala2189Pro)
c.6589G>C (p.Ala2197Pro)
c.6556G>C (p.Ala2186Pro)
c.6529G>C (p.Ala2177Pro)
13g.23337338C>TCA387521507SACSc.6538G>A (p.Ala2180Thr)
c.2186-7854G>A (p.=)
c.2431+4107G>A (p.=)
c.4288G>A (p.Ala1430Thr)
n.1058-7854G>A (p.=)
n.2129+4107G>A
c.6097G>A (p.Ala2033Thr)
c.6565G>A (p.Ala2189Thr)
c.6589G>A (p.Ala2197Thr)
c.6556G>A (p.Ala2186Thr)
c.6529G>A (p.Ala2177Thr)
13g.23337338dupCA954040878SACSc.6538dup (p.Ala2180GlyfsTer7)
c.2186-7854dup (p.=)
c.2431+4107dup (p.=)
c.4288dup (p.Ala1430GlyfsTer7)
n.1058-7854dup (p.=)
n.2129+4107dup
c.6097dup (p.Ala2033GlyfsTer7)
c.6565dup (p.Ala2189GlyfsTer7)
c.6589dup (p.Ala2197GlyfsTer7)
c.6556dup (p.Ala2186GlyfsTer7)
c.6529dup (p.Ala2177GlyfsTer7)
dbSNP
13g.23337339A>CCA483161183SACSc.6537T>G (p.Val2179=)
c.2186-7855T>G (p.=)
c.2431+4106T>G (p.=)
c.4287T>G (p.Val1429=)
n.1058-7855T>G (p.=)
n.2129+4106T>G
c.6096T>G (p.Val2032=)
c.6564T>G (p.Val2188=)
c.6588T>G (p.Val2196=)
c.6555T>G (p.Val2185=)
c.6528T>G (p.Val2176=)
13g.23337339A>GCA483161184SACSc.6537T>C (p.Val2179=)
c.2186-7855T>C (p.=)
c.2431+4106T>C (p.=)
c.4287T>C (p.Val1429=)
n.1058-7855T>C (p.=)
n.2129+4106T>C
c.6096T>C (p.Val2032=)
c.6564T>C (p.Val2188=)
c.6588T>C (p.Val2196=)
c.6555T>C (p.Val2185=)
c.6528T>C (p.Val2176=)
13g.23337339A>TCA483161185SACSc.6537T>A (p.Val2179=)
c.2186-7855T>A (p.=)
c.2431+4106T>A (p.=)
c.4287T>A (p.Val1429=)
n.1058-7855T>A (p.=)
n.2129+4106T>A
c.6096T>A (p.Val2032=)
c.6564T>A (p.Val2188=)
c.6588T>A (p.Val2196=)
c.6555T>A (p.Val2185=)
c.6528T>A (p.Val2176=)
13g.23337340A>CCA387521509SACSc.6536T>G (p.Val2179Gly)
c.2186-7856T>G (p.=)
c.2431+4105T>G (p.=)
c.4286T>G (p.Val1429Gly)
n.1058-7856T>G (p.=)
n.2129+4105T>G
c.6095T>G (p.Val2032Gly)
c.6563T>G (p.Val2188Gly)
c.6587T>G (p.Val2196Gly)
c.6554T>G (p.Val2185Gly)
c.6527T>G (p.Val2176Gly)
13g.23337340A>GCA387521511SACSc.6536T>C (p.Val2179Ala)
c.2186-7856T>C (p.=)
c.2431+4105T>C (p.=)
c.4286T>C (p.Val1429Ala)
n.1058-7856T>C (p.=)
n.2129+4105T>C
c.6095T>C (p.Val2032Ala)
c.6563T>C (p.Val2188Ala)
c.6587T>C (p.Val2196Ala)
c.6554T>C (p.Val2185Ala)
c.6527T>C (p.Val2176Ala)
13g.23337340A>TCA387521513SACSc.6536T>A (p.Val2179Asp)
c.2186-7856T>A (p.=)
c.2431+4105T>A (p.=)
c.4286T>A (p.Val1429Asp)
n.1058-7856T>A (p.=)
n.2129+4105T>A
c.6095T>A (p.Val2032Asp)
c.6563T>A (p.Val2188Asp)
c.6587T>A (p.Val2196Asp)
c.6554T>A (p.Val2185Asp)
c.6527T>A (p.Val2176Asp)
13g.23337341C>ACA387521518SACSc.6535G>T (p.Val2179Phe)
c.2186-7857G>T (p.=)
c.2431+4104G>T (p.=)
c.4285G>T (p.Val1429Phe)
n.1058-7857G>T (p.=)
n.2129+4104G>T
c.6094G>T (p.Val2032Phe)
c.6562G>T (p.Val2188Phe)
c.6586G>T (p.Val2196Phe)
c.6553G>T (p.Val2185Phe)
c.6526G>T (p.Val2176Phe)
13g.23337341C=CA2078627402SACSc.6535G= (p.Val2179=)
c.2186-7857G= (p.=)
c.2431+4104G= (p.=)
c.4285G= (p.Val1429=)
n.1058-7857G= (p.=)
n.2129+4104G=
c.6094G= (p.Val2032=)
c.6562G= (p.Val2188=)
c.6586G= (p.Val2196=)
c.6553G= (p.Val2185=)
c.6526G= (p.Val2176=)
13g.23337341C>GCA387521515SACSc.6535G>C (p.Val2179Leu)
c.2186-7857G>C (p.=)
c.2431+4104G>C (p.=)
c.4285G>C (p.Val1429Leu)
n.1058-7857G>C (p.=)
n.2129+4104G>C
c.6094G>C (p.Val2032Leu)
c.6562G>C (p.Val2188Leu)
c.6586G>C (p.Val2196Leu)
c.6553G>C (p.Val2185Leu)
c.6526G>C (p.Val2176Leu)
13g.23337341C>TCA246657978SACSc.6535G>A (p.Val2179Ile)
c.2186-7857G>A (p.=)
c.2431+4104G>A (p.=)
c.4285G>A (p.Val1429Ile)
n.1058-7857G>A (p.=)
n.2129+4104G>A
c.6094G>A (p.Val2032Ile)
c.6562G>A (p.Val2188Ile)
c.6586G>A (p.Val2196Ile)
c.6553G>A (p.Val2185Ile)
c.6526G>A (p.Val2176Ile)
dbSNP gnomAD

Number of alleles fetched