Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.18145923_18145937delCA2636447850MYO15Ac.6325_6339del (p.Phe2109_Ile2113del)
c.6265_6279del (p.Phe2089_Ile2093del)
c.6319_6333del (p.Phe2107_Ile2111del)
n.6924_6938del
c.6328_6342del (p.Phe2110_Ile2114del)
c.6213+1331_6213+1345del (n.6213+1331_6213+1345del)
 gnomAD v4
17g.18145935A=CA2250850319MYO15Ac.6337A= (p.Ile2113=)
c.6277A= (p.Ile2093=)
c.6331A= (p.Ile2111=)
n.6936A=
c.6340A= (p.Ile2114=)
c.6213+1343A= (n.6213+1343A=)
17g.18145935A>CCA398606567MYO15Ac.6337A>C (p.Ile2113Leu)
c.6277A>C (p.Ile2093Leu)
c.6331A>C (p.Ile2111Leu)
n.6936A>C
c.6340A>C (p.Ile2114Leu)
c.6213+1343A>C (n.6213+1343A>C)
17g.18145935A>GCA398606569MYO15Ac.6337A>G (p.Ile2113Val)
c.6277A>G (p.Ile2093Val)
c.6331A>G (p.Ile2111Val)
n.6936A>G
c.6340A>G (p.Ile2114Val)
c.6213+1343A>G (n.6213+1343A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.18145935A>TCA254013MYO15Ac.6337A>T (p.Ile2113Phe)
c.6277A>T (p.Ile2093Phe)
c.6331A>T (p.Ile2111Phe)
n.6936A>T
c.6340A>T (p.Ile2114Phe)
c.6213+1343A>T (n.6213+1343A>T)
 ClinVar dbSNP
17g.18145936T>ACA398606573MYO15Ac.6338T>A (p.Ile2113Asn)
c.6278T>A (p.Ile2093Asn)
c.6332T>A (p.Ile2111Asn)
n.6937T>A
c.6341T>A (p.Ile2114Asn)
c.6213+1344T>A (n.6213+1344T>A)
 ClinVar dbSNP
17g.18145936T>CCA398606575MYO15Ac.6338T>C (p.Ile2113Thr)
c.6278T>C (p.Ile2093Thr)
c.6332T>C (p.Ile2111Thr)
n.6937T>C
c.6341T>C (p.Ile2114Thr)
c.6213+1344T>C (n.6213+1344T>C)
 dbSNP gnomAD v4
17g.18145936T>GCA398606571MYO15Ac.6338T>G (p.Ile2113Ser)
c.6278T>G (p.Ile2093Ser)
c.6332T>G (p.Ile2111Ser)
n.6937T>G
c.6341T>G (p.Ile2114Ser)
c.6213+1344T>G (n.6213+1344T>G)
17g.18145936T=CA2250850320MYO15Ac.6338T= (p.Ile2113=)
c.6278T= (p.Ile2093=)
c.6332T= (p.Ile2111=)
n.6937T=
c.6341T= (p.Ile2114=)
c.6213+1344T= (n.6213+1344T=)
17g.18145937C>ACA498430452MYO15Ac.6339C>A (p.Ile2113=)
c.6279C>A (p.Ile2093=)
c.6333C>A (p.Ile2111=)
n.6938C>A
c.6342C>A (p.Ile2114=)
c.6213+1345C>A (n.6213+1345C>A)
 gnomAD v4
17g.18145937C=CA2250850321MYO15Ac.6339C= (p.Ile2113=)
c.6279C= (p.Ile2093=)
c.6333C= (p.Ile2111=)
n.6938C=
c.6342C= (p.Ile2114=)
c.6213+1345C= (n.6213+1345C=)
17g.18145937C>GCA288407369MYO15Ac.6339C>G (p.Ile2113Met)
c.6279C>G (p.Ile2093Met)
c.6333C>G (p.Ile2111Met)
n.6938C>G
c.6342C>G (p.Ile2114Met)
c.6213+1345C>G (n.6213+1345C>G)
 dbSNP gnomAD v4
17g.18145937C>TCA8424574MYO15Ac.6339C>T (p.Ile2113=)
c.6279C>T (p.Ile2093=)
c.6333C>T (p.Ile2111=)
n.6938C>T
c.6342C>T (p.Ile2114=)
c.6213+1345C>T (n.6213+1345C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.18145938G>ACA8424575MYO15Ac.6340G>A (p.Val2114Met)
c.6280G>A (p.Val2094Met)
c.6334G>A (p.Val2112Met)
n.6939G>A
c.6343G>A (p.Val2115Met)
c.6213+1346G>A (n.6213+1346G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.18145938G>CCA398606580MYO15Ac.6340G>C (p.Val2114Leu)
c.6280G>C (p.Val2094Leu)
c.6334G>C (p.Val2112Leu)
n.6939G>C
c.6343G>C (p.Val2115Leu)
c.6213+1346G>C (n.6213+1346G>C)
17g.18145938G=CA2250850322MYO15Ac.6340G= (p.Val2114=)
c.6280G= (p.Val2094=)
c.6334G= (p.Val2112=)
n.6939G=
c.6343G= (p.Val2115=)
c.6213+1346G= (n.6213+1346G=)
17g.18145938G>TCA398606582MYO15Ac.6340G>T (p.Val2114Leu)
c.6280G>T (p.Val2094Leu)
c.6334G>T (p.Val2112Leu)
n.6939G>T
c.6343G>T (p.Val2115Leu)
c.6213+1346G>T (n.6213+1346G>T)
 COSMIC
17g.18145939T>ACA398606584MYO15Ac.6341T>A (p.Val2114Glu)
c.6281T>A (p.Val2094Glu)
c.6335T>A (p.Val2112Glu)
n.6940T>A
c.6344T>A (p.Val2115Glu)
c.6213+1347T>A (n.6213+1347T>A)
17g.18145939T>CCA398606586MYO15Ac.6341T>C (p.Val2114Ala)
c.6281T>C (p.Val2094Ala)
c.6335T>C (p.Val2112Ala)
n.6940T>C
c.6344T>C (p.Val2115Ala)
c.6213+1347T>C (n.6213+1347T>C)
17g.18145939T>GCA398606588MYO15Ac.6341T>G (p.Val2114Gly)
c.6281T>G (p.Val2094Gly)
c.6335T>G (p.Val2112Gly)
n.6940T>G
c.6344T>G (p.Val2115Gly)
c.6213+1347T>G (n.6213+1347T>G)
17g.18145940G>ACA498430454MYO15Ac.6342G>A (p.Val2114=)
c.6282G>A (p.Val2094=)
c.6336G>A (p.Val2112=)
n.6941G>A
c.6345G>A (p.Val2115=)
c.6213+1348G>A (n.6213+1348G>A)
17g.18145940G>CCA498430455MYO15Ac.6342G>C (p.Val2114=)
c.6282G>C (p.Val2094=)
c.6336G>C (p.Val2112=)
n.6941G>C
c.6345G>C (p.Val2115=)
c.6213+1348G>C (n.6213+1348G>C)
17g.18145940G>TCA498430453MYO15Ac.6342G>T (p.Val2114=)
c.6282G>T (p.Val2094=)
c.6336G>T (p.Val2112=)
n.6941G>T
c.6345G>T (p.Val2115=)
c.6213+1348G>T (n.6213+1348G>T)
17g.18145941C>ACA398606590MYO15Ac.6343C>A (p.Gln2115Lys)
c.6283C>A (p.Gln2095Lys)
c.6337C>A (p.Gln2113Lys)
n.6942C>A
c.6346C>A (p.Gln2116Lys)
c.6213+1349C>A (n.6213+1349C>A)
17g.18145941C>GCA398606591MYO15Ac.6343C>G (p.Gln2115Glu)
c.6283C>G (p.Gln2095Glu)
c.6337C>G (p.Gln2113Glu)
n.6942C>G
c.6346C>G (p.Gln2116Glu)
c.6213+1349C>G (n.6213+1349C>G)
17g.18145941C>TCA398606593MYO15Ac.6343C>T (p.Gln2115Ter)
c.6283C>T (p.Gln2095Ter)
c.6337C>T (p.Gln2113Ter)
n.6942C>T
c.6346C>T (p.Gln2116Ter)
c.6213+1349C>T (n.6213+1349C>T)
17g.18145942A=CA2250850323MYO15Ac.6344A= (p.Gln2115=)
c.6284A= (p.Gln2095=)
c.6338A= (p.Gln2113=)
n.6943A=
c.6347A= (p.Gln2116=)
c.6213+1350A= (n.6213+1350A=)
17g.18145942A>CCA398606599MYO15Ac.6344A>C (p.Gln2115Pro)
c.6284A>C (p.Gln2095Pro)
c.6338A>C (p.Gln2113Pro)
n.6943A>C
c.6347A>C (p.Gln2116Pro)
c.6213+1350A>C (n.6213+1350A>C)
17g.18145942A>GCA398606597MYO15Ac.6344A>G (p.Gln2115Arg)
c.6284A>G (p.Gln2095Arg)
c.6338A>G (p.Gln2113Arg)
n.6943A>G
c.6347A>G (p.Gln2116Arg)
c.6213+1350A>G (n.6213+1350A>G)
 dbSNP
17g.18145942A>TCA398606595MYO15Ac.6344A>T (p.Gln2115Leu)
c.6284A>T (p.Gln2095Leu)
c.6338A>T (p.Gln2113Leu)
n.6943A>T
c.6347A>T (p.Gln2116Leu)
c.6213+1350A>T (n.6213+1350A>T)
17g.18145943G>ACA498430456MYO15Ac.6345G>A (p.Gln2115=)
c.6285G>A (p.Gln2095=)
c.6339G>A (p.Gln2113=)
n.6944G>A
c.6348G>A (p.Gln2116=)
c.6213+1351G>A (n.6213+1351G>A)
 gnomAD v4
17g.18145943G>CCA398606601MYO15Ac.6345G>C (p.Gln2115His)
c.6285G>C (p.Gln2095His)
c.6339G>C (p.Gln2113His)
n.6944G>C
c.6348G>C (p.Gln2116His)
c.6213+1351G>C (n.6213+1351G>C)
17g.18145943G>TCA398606603MYO15Ac.6345G>T (p.Gln2115His)
c.6285G>T (p.Gln2095His)
c.6339G>T (p.Gln2113His)
n.6944G>T
c.6348G>T (p.Gln2116His)
c.6213+1351G>T (n.6213+1351G>T)
17g.18145944A>CCA398606605MYO15Ac.6346A>C (p.Lys2116Gln)
c.6286A>C (p.Lys2096Gln)
c.6340A>C (p.Lys2114Gln)
n.6945A>C
c.6349A>C (p.Lys2117Gln)
c.6213+1352A>C (n.6213+1352A>C)
17g.18145944A>GCA398606606MYO15Ac.6346A>G (p.Lys2116Glu)
c.6286A>G (p.Lys2096Glu)
c.6340A>G (p.Lys2114Glu)
n.6945A>G
c.6349A>G (p.Lys2117Glu)
c.6213+1352A>G (n.6213+1352A>G)
17g.18145944A>TCA398606608MYO15Ac.6346A>T (p.Lys2116Ter)
c.6286A>T (p.Lys2096Ter)
c.6340A>T (p.Lys2114Ter)
n.6945A>T
c.6349A>T (p.Lys2117Ter)
c.6213+1352A>T (n.6213+1352A>T)
17g.18145945dupCA2808664864MYO15Ac.6347dup (p.Leu2118AlafsTer5)
c.6287dup (p.Leu2098AlafsTer5)
c.6341dup (p.Leu2116AlafsTer5)
n.6946dup
c.6350dup (p.Leu2119AlafsTer5)
c.6213+1353dup (n.6213+1353dup)
17g.18145945delCA2695224489MYO15Ac.6347del (p.Lys2116ArgfsTer?)
c.6287del (p.Lys2096ArgfsTer?)
c.6341del (p.Lys2114ArgfsTer?)
n.6946del
c.6350del (p.Lys2117ArgfsTer?)
c.6213+1353del (n.6213+1353del)
17g.18145945A>CCA398606611MYO15Ac.6347A>C (p.Lys2116Thr)
c.6287A>C (p.Lys2096Thr)
c.6341A>C (p.Lys2114Thr)
n.6946A>C
c.6350A>C (p.Lys2117Thr)
c.6213+1353A>C (n.6213+1353A>C)
 gnomAD v4
17g.18145945A>GCA398606612MYO15Ac.6347A>G (p.Lys2116Arg)
c.6287A>G (p.Lys2096Arg)
c.6341A>G (p.Lys2114Arg)
n.6946A>G
c.6350A>G (p.Lys2117Arg)
c.6213+1353A>G (n.6213+1353A>G)
17g.18145945A>TCA398606614MYO15Ac.6347A>T (p.Lys2116Met)
c.6287A>T (p.Lys2096Met)
c.6341A>T (p.Lys2114Met)
n.6946A>T
c.6350A>T (p.Lys2117Met)
c.6213+1353A>T (n.6213+1353A>T)
17g.18145946G>ACA498430457MYO15Ac.6348G>A (p.Lys2116=)
c.6288G>A (p.Lys2096=)
c.6342G>A (p.Lys2114=)
n.6947G>A
c.6351G>A (p.Lys2117=)
c.6213+1354G>A (n.6213+1354G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.18145946G>CCA398606616MYO15Ac.6348G>C (p.Lys2116Asn)
c.6288G>C (p.Lys2096Asn)
c.6342G>C (p.Lys2114Asn)
n.6947G>C
c.6351G>C (p.Lys2117Asn)
c.6213+1354G>C (n.6213+1354G>C)
17g.18145946G=CA2250850324MYO15Ac.6348G= (p.Lys2116=)
c.6288G= (p.Lys2096=)
c.6342G= (p.Lys2114=)
n.6947G=
c.6351G= (p.Lys2117=)
c.6213+1354G= (n.6213+1354G=)
17g.18145946G>TCA398606617MYO15Ac.6348G>T (p.Lys2116Asn)
c.6288G>T (p.Lys2096Asn)
c.6342G>T (p.Lys2114Asn)
n.6947G>T
c.6351G>T (p.Lys2117Asn)
c.6213+1354G>T (n.6213+1354G>T)
17g.18145949dupCA2636447988MYO15Ac.6351dup (p.Leu2118AlafsTer5)
c.6291dup (p.Leu2098AlafsTer5)
c.6345dup (p.Leu2116AlafsTer5)
n.6950dup
c.6354dup (p.Leu2119AlafsTer5)
c.6213+1357dup (n.6213+1357dup)
 gnomAD v4
17g.18145949delCA2808664867MYO15Ac.6351del (p.Leu2118TrpfsTer?)
c.6291del (p.Leu2098TrpfsTer?)
c.6345del (p.Leu2116TrpfsTer?)
n.6950del
c.6354del (p.Leu2119TrpfsTer?)
c.6213+1357del (n.6213+1357del)
17g.18145947G>ACA398606620MYO15Ac.6349G>A (p.Gly2117Arg)
c.6289G>A (p.Gly2097Arg)
c.6343G>A (p.Gly2115Arg)
n.6948G>A
c.6352G>A (p.Gly2118Arg)
c.6213+1355G>A (n.6213+1355G>A)
17g.18145947G>CCA398606622MYO15Ac.6349G>C (p.Gly2117Arg)
c.6289G>C (p.Gly2097Arg)
c.6343G>C (p.Gly2115Arg)
n.6948G>C
c.6352G>C (p.Gly2118Arg)
c.6213+1355G>C (n.6213+1355G>C)
17g.18145947G>TCA398606623MYO15Ac.6349G>T (p.Gly2117Trp)
c.6289G>T (p.Gly2097Trp)
c.6343G>T (p.Gly2115Trp)
n.6948G>T
c.6352G>T (p.Gly2118Trp)
c.6213+1355G>T (n.6213+1355G>T)
 gnomAD v4

Number of alleles fetched