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
17g.18145948G>ACA398606627MYO15Ac.6350G>A (p.Gly2117Glu)
c.6290G>A (p.Gly2097Glu)
c.6344G>A (p.Gly2115Glu)
n.6949G>A
c.6353G>A (p.Gly2118Glu)
c.6213+1356G>A (n.6213+1356G>A)
COSMIC
17g.18145948G>CCA398606628MYO15Ac.6350G>C (p.Gly2117Ala)
c.6290G>C (p.Gly2097Ala)
c.6344G>C (p.Gly2115Ala)
n.6949G>C
c.6353G>C (p.Gly2118Ala)
c.6213+1356G>C (n.6213+1356G>C)
17g.18145948G>TCA398606625MYO15Ac.6350G>T (p.Gly2117Val)
c.6290G>T (p.Gly2097Val)
c.6344G>T (p.Gly2115Val)
n.6949G>T
c.6353G>T (p.Gly2118Val)
c.6213+1356G>T (n.6213+1356G>T)
17g.18145949G>ACA498430458MYO15Ac.6351G>A (p.Gly2117=)
c.6291G>A (p.Gly2097=)
c.6345G>A (p.Gly2115=)
n.6950G>A
c.6354G>A (p.Gly2118=)
c.6213+1357G>A (n.6213+1357G>A)
17g.18145949G>CCA498430459MYO15Ac.6351G>C (p.Gly2117=)
c.6291G>C (p.Gly2097=)
c.6345G>C (p.Gly2115=)
n.6950G>C
c.6354G>C (p.Gly2118=)
c.6213+1357G>C (n.6213+1357G>C)
17g.18145949G>TCA498430460MYO15Ac.6351G>T (p.Gly2117=)
c.6291G>T (p.Gly2097=)
c.6345G>T (p.Gly2115=)
n.6950G>T
c.6354G>T (p.Gly2118=)
c.6213+1357G>T (n.6213+1357G>T)
17g.18145950C>ACA398606630MYO15Ac.6352C>A (p.Leu2118Met)
c.6292C>A (p.Leu2098Met)
c.6346C>A (p.Leu2116Met)
n.6951C>A
c.6355C>A (p.Leu2119Met)
c.6213+1358C>A (n.6213+1358C>A)
dbSNP gnomAD v3 gnomAD v4
17g.18145950C=CA2250850325MYO15Ac.6352C= (p.Leu2118=)
c.6292C= (p.Leu2098=)
c.6346C= (p.Leu2116=)
n.6951C=
c.6355C= (p.Leu2119=)
c.6213+1358C= (n.6213+1358C=)
17g.18145950C>GCA398606632MYO15Ac.6352C>G (p.Leu2118Val)
c.6292C>G (p.Leu2098Val)
c.6346C>G (p.Leu2116Val)
n.6951C>G
c.6355C>G (p.Leu2119Val)
c.6213+1358C>G (n.6213+1358C>G)
17g.18145950C>TCA498430461MYO15Ac.6352C>T (p.Leu2118=)
c.6292C>T (p.Leu2098=)
c.6346C>T (p.Leu2116=)
n.6951C>T
c.6355C>T (p.Leu2119=)
c.6213+1358C>T (n.6213+1358C>T)
ClinVar
17g.18145951T>ACA288407382MYO15Ac.6353T>A (p.Leu2118Gln)
c.6293T>A (p.Leu2098Gln)
c.6347T>A (p.Leu2116Gln)
n.6952T>A
c.6356T>A (p.Leu2119Gln)
c.6213+1359T>A (n.6213+1359T>A)
dbSNP gnomAD v2 gnomAD v4
17g.18145951T>CCA398606637MYO15Ac.6353T>C (p.Leu2118Pro)
c.6293T>C (p.Leu2098Pro)
c.6347T>C (p.Leu2116Pro)
n.6952T>C
c.6356T>C (p.Leu2119Pro)
c.6213+1359T>C (n.6213+1359T>C)
17g.18145951T>GCA398606635MYO15Ac.6353T>G (p.Leu2118Arg)
c.6293T>G (p.Leu2098Arg)
c.6347T>G (p.Leu2116Arg)
n.6952T>G
c.6356T>G (p.Leu2119Arg)
c.6213+1359T>G (n.6213+1359T>G)
17g.18145951T=CA2250850326MYO15Ac.6353T= (p.Leu2118=)
c.6293T= (p.Leu2098=)
c.6347T= (p.Leu2116=)
n.6952T=
c.6356T= (p.Leu2119=)
c.6213+1359T= (n.6213+1359T=)
17g.18145951dupCA2580092659MYO15Ac.6353dup (p.Ala2119GlyfsTer4)
c.6293dup (p.Ala2099GlyfsTer4)
c.6347dup (p.Ala2117GlyfsTer4)
n.6952dup
c.6356dup (p.Ala2120GlyfsTer4)
c.6213+1359dup (n.6213+1359dup)
ClinVar
17g.18145952G>ACA498430462MYO15Ac.6354G>A (p.Leu2118=)
c.6294G>A (p.Leu2098=)
c.6348G>A (p.Leu2116=)
n.6953G>A
c.6357G>A (p.Leu2119=)
c.6213+1360G>A (n.6213+1360G>A)
dbSNP gnomAD v4
17g.18145952G>CCA498430463MYO15Ac.6354G>C (p.Leu2118=)
c.6294G>C (p.Leu2098=)
c.6348G>C (p.Leu2116=)
n.6953G>C
c.6357G>C (p.Leu2119=)
c.6213+1360G>C (n.6213+1360G>C)
17g.18145952G=CA2250850327MYO15Ac.6354G= (p.Leu2118=)
c.6294G= (p.Leu2098=)
c.6348G= (p.Leu2116=)
n.6953G=
c.6357G= (p.Leu2119=)
c.6213+1360G= (n.6213+1360G=)
17g.18145952G>TCA498430464MYO15Ac.6354G>T (p.Leu2118=)
c.6294G>T (p.Leu2098=)
c.6348G>T (p.Leu2116=)
n.6953G>T
c.6357G>T (p.Leu2119=)
c.6213+1360G>T (n.6213+1360G>T)
17g.18145953G>ACA398606640MYO15Ac.6355G>A (p.Ala2119Thr)
c.6295G>A (p.Ala2099Thr)
c.6349G>A (p.Ala2117Thr)
n.6954G>A
c.6358G>A (p.Ala2120Thr)
c.6213+1361G>A (n.6213+1361G>A)
gnomAD v4
17g.18145953G>CCA398606641MYO15Ac.6355G>C (p.Ala2119Pro)
c.6295G>C (p.Ala2099Pro)
c.6349G>C (p.Ala2117Pro)
n.6954G>C
c.6358G>C (p.Ala2120Pro)
c.6213+1361G>C (n.6213+1361G>C)
17g.18145953G>TCA398606644MYO15Ac.6355G>T (p.Ala2119Ser)
c.6295G>T (p.Ala2099Ser)
c.6349G>T (p.Ala2117Ser)
n.6954G>T
c.6358G>T (p.Ala2120Ser)
c.6213+1361G>T (n.6213+1361G>T)
17g.18145954C>ACA398606646MYO15Ac.6356C>A (p.Ala2119Glu)
c.6296C>A (p.Ala2099Glu)
c.6350C>A (p.Ala2117Glu)
n.6955C>A
c.6359C>A (p.Ala2120Glu)
c.6213+1362C>A (n.6213+1362C>A)
gnomAD v4
17g.18145954C=CA2250850328MYO15Ac.6356C= (p.Ala2119=)
c.6296C= (p.Ala2099=)
c.6350C= (p.Ala2117=)
n.6955C=
c.6359C= (p.Ala2120=)
c.6213+1362C= (n.6213+1362C=)
17g.18145954C>GCA398606648MYO15Ac.6356C>G (p.Ala2119Gly)
c.6296C>G (p.Ala2099Gly)
c.6350C>G (p.Ala2117Gly)
n.6955C>G
c.6359C>G (p.Ala2120Gly)
c.6213+1362C>G (n.6213+1362C>G)
17g.18145954C>TCA8424576MYO15Ac.6356C>T (p.Ala2119Val)
c.6296C>T (p.Ala2099Val)
c.6350C>T (p.Ala2117Val)
n.6955C>T
c.6359C>T (p.Ala2120Val)
c.6213+1362C>T (n.6213+1362C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18145955G>ACA8424577MYO15Ac.6357G>A (p.Ala2119=)
c.6297G>A (p.Ala2099=)
c.6351G>A (p.Ala2117=)
n.6956G>A
c.6360G>A (p.Ala2120=)
c.6213+1363G>A (n.6213+1363G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18145955G>CCA498430465MYO15Ac.6357G>C (p.Ala2119=)
c.6297G>C (p.Ala2099=)
c.6351G>C (p.Ala2117=)
n.6956G>C
c.6360G>C (p.Ala2120=)
c.6213+1363G>C (n.6213+1363G>C)
17g.18145955G=CA2250850329MYO15Ac.6357G= (p.Ala2119=)
c.6297G= (p.Ala2099=)
c.6351G= (p.Ala2117=)
n.6956G=
c.6360G= (p.Ala2120=)
c.6213+1363G= (n.6213+1363G=)
17g.18145955G>TCA498430466MYO15Ac.6357G>T (p.Ala2119=)
c.6297G>T (p.Ala2099=)
c.6351G>T (p.Ala2117=)
n.6956G>T
c.6360G>T (p.Ala2120=)
c.6213+1363G>T (n.6213+1363G>T)
17g.18145956G>ACA398606652MYO15Ac.6358G>A (p.Val2120Met)
c.6298G>A (p.Val2100Met)
c.6352G>A (p.Val2118Met)
n.6957G>A
c.6361G>A (p.Val2121Met)
c.6213+1364G>A (n.6213+1364G>A)
17g.18145956G>CCA398606654MYO15Ac.6358G>C (p.Val2120Leu)
c.6298G>C (p.Val2100Leu)
c.6352G>C (p.Val2118Leu)
n.6957G>C
c.6361G>C (p.Val2121Leu)
c.6213+1364G>C (n.6213+1364G>C)
17g.18145956G>TCA398606655MYO15Ac.6358G>T (p.Val2120Leu)
c.6298G>T (p.Val2100Leu)
c.6352G>T (p.Val2118Leu)
n.6957G>T
c.6361G>T (p.Val2121Leu)
c.6213+1364G>T (n.6213+1364G>T)
17g.18145957T>ACA398606662MYO15Ac.6359T>A (p.Val2120Glu)
c.6299T>A (p.Val2100Glu)
c.6353T>A (p.Val2118Glu)
n.6958T>A
c.6362T>A (p.Val2121Glu)
c.6213+1365T>A (n.6213+1365T>A)
17g.18145957T>CCA398606660MYO15Ac.6359T>C (p.Val2120Ala)
c.6299T>C (p.Val2100Ala)
c.6353T>C (p.Val2118Ala)
n.6958T>C
c.6362T>C (p.Val2121Ala)
c.6213+1365T>C (n.6213+1365T>C)
17g.18145957T>GCA398606659MYO15Ac.6359T>G (p.Val2120Gly)
c.6299T>G (p.Val2100Gly)
c.6353T>G (p.Val2118Gly)
n.6958T>G
c.6362T>G (p.Val2121Gly)
c.6213+1365T>G (n.6213+1365T>G)
dbSNP
17g.18145957T=CA2250850330MYO15Ac.6359T= (p.Val2120=)
c.6299T= (p.Val2100=)
c.6353T= (p.Val2118=)
n.6958T=
c.6362T= (p.Val2121=)
c.6213+1365T= (n.6213+1365T=)
17g.18145958G>ACA498430467MYO15Ac.6360G>A (p.Val2120=)
c.6300G>A (p.Val2100=)
c.6354G>A (p.Val2118=)
n.6959G>A
c.6363G>A (p.Val2121=)
c.6213+1366G>A (n.6213+1366G>A)
17g.18145958G>CCA498430468MYO15Ac.6360G>C (p.Val2120=)
c.6300G>C (p.Val2100=)
c.6354G>C (p.Val2118=)
n.6959G>C
c.6363G>C (p.Val2121=)
c.6213+1366G>C (n.6213+1366G>C)
17g.18145958G=CA2250850331MYO15Ac.6360G= (p.Val2120=)
c.6300G= (p.Val2100=)
c.6354G= (p.Val2118=)
n.6959G=
c.6363G= (p.Val2121=)
c.6213+1366G= (n.6213+1366G=)
17g.18145958G>TCA498430469MYO15Ac.6360G>T (p.Val2120=)
c.6300G>T (p.Val2100=)
c.6354G>T (p.Val2118=)
n.6959G>T
c.6363G>T (p.Val2121=)
c.6213+1366G>T (n.6213+1366G>T)
dbSNP gnomAD v3 gnomAD v4
17g.18145959C>ACA398606664MYO15Ac.6361C>A (p.Pro2121Thr)
c.6301C>A (p.Pro2101Thr)
c.6355C>A (p.Pro2119Thr)
n.6960C>A
c.6364C>A (p.Pro2122Thr)
c.6213+1367C>A (n.6213+1367C>A)
17g.18145959C=CA2250850332MYO15Ac.6361C= (p.Pro2121=)
c.6301C= (p.Pro2101=)
c.6355C= (p.Pro2119=)
n.6960C=
c.6364C= (p.Pro2122=)
c.6213+1367C= (n.6213+1367C=)
17g.18145959C>GCA398606666MYO15Ac.6361C>G (p.Pro2121Ala)
c.6301C>G (p.Pro2101Ala)
c.6355C>G (p.Pro2119Ala)
n.6960C>G
c.6364C>G (p.Pro2122Ala)
c.6213+1367C>G (n.6213+1367C>G)
17g.18145959C>TCA398606667MYO15Ac.6361C>T (p.Pro2121Ser)
c.6301C>T (p.Pro2101Ser)
c.6355C>T (p.Pro2119Ser)
n.6960C>T
c.6364C>T (p.Pro2122Ser)
c.6213+1367C>T (n.6213+1367C>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.18145960C>ACA398606669MYO15Ac.6362C>A (p.Pro2121His)
c.6302C>A (p.Pro2101His)
c.6356C>A (p.Pro2119His)
n.6961C>A
c.6365C>A (p.Pro2122His)
c.6213+1368C>A (n.6213+1368C>A)
17g.18145960C=CA2250850333MYO15Ac.6362C= (p.Pro2121=)
c.6302C= (p.Pro2101=)
c.6356C= (p.Pro2119=)
n.6961C=
c.6365C= (p.Pro2122=)
c.6213+1368C= (n.6213+1368C=)
17g.18145960C>GCA398606671MYO15Ac.6362C>G (p.Pro2121Arg)
c.6302C>G (p.Pro2101Arg)
c.6356C>G (p.Pro2119Arg)
n.6961C>G
c.6365C>G (p.Pro2122Arg)
c.6213+1368C>G (n.6213+1368C>G)
dbSNP gnomAD v2 gnomAD v4
17g.18145960C>TCA398606673MYO15Ac.6362C>T (p.Pro2121Leu)
c.6302C>T (p.Pro2101Leu)
c.6356C>T (p.Pro2119Leu)
n.6961C>T
c.6365C>T (p.Pro2122Leu)
c.6213+1368C>T (n.6213+1368C>T)
17g.18145961T>ACA498430470MYO15Ac.6363T>A (p.Pro2121=)
c.6303T>A (p.Pro2101=)
c.6357T>A (p.Pro2119=)
n.6962T>A
c.6366T>A (p.Pro2122=)
c.6213+1369T>A (n.6213+1369T>A)
17g.18145961T>CCA498430472MYO15Ac.6363T>C (p.Pro2121=)
c.6303T>C (p.Pro2101=)
c.6357T>C (p.Pro2119=)
n.6962T>C
c.6366T>C (p.Pro2122=)
c.6213+1369T>C (n.6213+1369T>C)
gnomAD v4
17g.18145961T>GCA498430471MYO15Ac.6363T>G (p.Pro2121=)
c.6303T>G (p.Pro2101=)
c.6357T>G (p.Pro2119=)
n.6962T>G
c.6366T>G (p.Pro2122=)
c.6213+1369T>G (n.6213+1369T>G)
17g.18145962G>ACA398606675MYO15Ac.6364G>A (p.Glu2122Lys)
c.6304G>A (p.Glu2102Lys)
c.6358G>A (p.Glu2120Lys)
n.6963G>A
c.6367G>A (p.Glu2123Lys)
c.6213+1370G>A (n.6213+1370G>A)
gnomAD v4
17g.18145962G>CCA398606677MYO15Ac.6364G>C (p.Glu2122Gln)
c.6304G>C (p.Glu2102Gln)
c.6358G>C (p.Glu2120Gln)
n.6963G>C
c.6367G>C (p.Glu2123Gln)
c.6213+1370G>C (n.6213+1370G>C)
gnomAD v4
17g.18145962G>TCA398606679MYO15Ac.6364G>T (p.Glu2122Ter)
c.6304G>T (p.Glu2102Ter)
c.6358G>T (p.Glu2120Ter)
n.6963G>T
c.6367G>T (p.Glu2123Ter)
c.6213+1370G>T (n.6213+1370G>T)
17g.18145963A=CA2250850334MYO15Ac.6365A= (p.Glu2122=)
c.6305A= (p.Glu2102=)
c.6359A= (p.Glu2120=)
n.6964A=
c.6368A= (p.Glu2123=)
c.6213+1371A= (n.6213+1371A=)
17g.18145963A>CCA398606682MYO15Ac.6365A>C (p.Glu2122Ala)
c.6305A>C (p.Glu2102Ala)
c.6359A>C (p.Glu2120Ala)
n.6964A>C
c.6368A>C (p.Glu2123Ala)
c.6213+1371A>C (n.6213+1371A>C)
17g.18145963A>GCA8424578MYO15Ac.6365A>G (p.Glu2122Gly)
c.6305A>G (p.Glu2102Gly)
c.6359A>G (p.Glu2120Gly)
n.6964A>G
c.6368A>G (p.Glu2123Gly)
c.6213+1371A>G (n.6213+1371A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18145963A>TCA398606684MYO15Ac.6365A>T (p.Glu2122Val)
c.6305A>T (p.Glu2102Val)
c.6359A>T (p.Glu2120Val)
n.6964A>T
c.6368A>T (p.Glu2123Val)
c.6213+1371A>T (n.6213+1371A>T)
17g.18145964G>ACA498430473MYO15Ac.6366G>A (p.Glu2122=)
c.6306G>A (p.Glu2102=)
c.6360G>A (p.Glu2120=)
n.6965G>A
c.6369G>A (p.Glu2123=)
c.6213+1372G>A (n.6213+1372G>A)
17g.18145964G>CCA398606687MYO15Ac.6366G>C (p.Glu2122Asp)
c.6306G>C (p.Glu2102Asp)
c.6360G>C (p.Glu2120Asp)
n.6965G>C
c.6369G>C (p.Glu2123Asp)
c.6213+1372G>C (n.6213+1372G>C)
17g.18145964G=CA2250850335MYO15Ac.6366G= (p.Glu2122=)
c.6306G= (p.Glu2102=)
c.6360G= (p.Glu2120=)
n.6965G=
c.6369G= (p.Glu2123=)
c.6213+1372G= (n.6213+1372G=)
17g.18145964G>TCA398606686MYO15Ac.6366G>T (p.Glu2122Asp)
c.6306G>T (p.Glu2102Asp)
c.6360G>T (p.Glu2120Asp)
n.6965G>T
c.6369G>T (p.Glu2123Asp)
c.6213+1372G>T (n.6213+1372G>T)
gnomAD v4
17g.18145965C>ACA288407420MYO15Ac.6367C>A (p.Leu2123Met)
c.6307C>A (p.Leu2103Met)
c.6361C>A (p.Leu2121Met)
n.6966C>A
c.6370C>A (p.Leu2124Met)
c.6213+1373C>A (n.6213+1373C>A)
ClinVar dbSNP gnomAD v3
17g.18145965C=CA2250850336MYO15Ac.6367C= (p.Leu2123=)
c.6307C= (p.Leu2103=)
c.6361C= (p.Leu2121=)
n.6966C=
c.6370C= (p.Leu2124=)
c.6213+1373C= (n.6213+1373C=)
17g.18145965C>GCA398606691MYO15Ac.6367C>G (p.Leu2123Val)
c.6307C>G (p.Leu2103Val)
c.6361C>G (p.Leu2121Val)
n.6966C>G
c.6370C>G (p.Leu2124Val)
c.6213+1373C>G (n.6213+1373C>G)
17g.18145965C>TCA498430474MYO15Ac.6367C>T (p.Leu2123=)
c.6307C>T (p.Leu2103=)
c.6361C>T (p.Leu2121=)
n.6966C>T
c.6370C>T (p.Leu2124=)
c.6213+1373C>T (n.6213+1373C>T)
ClinVar dbSNP gnomAD v4
17g.18145965dupCA8424579MYO15Ac.6367dup (p.Leu2123ProfsTer4)
c.6307dup (p.Leu2103ProfsTer4)
c.6361dup (p.Leu2121ProfsTer4)
n.6966dup
c.6370dup (p.Leu2124ProfsTer4)
c.6213+1373dup (n.6213+1373dup)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.18145966T>ACA398606694MYO15Ac.6368T>A (p.Leu2123Gln)
c.6308T>A (p.Leu2103Gln)
c.6362T>A (p.Leu2121Gln)
n.6967T>A
c.6371T>A (p.Leu2124Gln)
c.6213+1374T>A (n.6213+1374T>A)
17g.18145966T>CCA398606696MYO15Ac.6368T>C (p.Leu2123Pro)
c.6308T>C (p.Leu2103Pro)
c.6362T>C (p.Leu2121Pro)
n.6967T>C
c.6371T>C (p.Leu2124Pro)
c.6213+1374T>C (n.6213+1374T>C)
gnomAD v4
17g.18145966T>GCA398606697MYO15Ac.6368T>G (p.Leu2123Arg)
c.6308T>G (p.Leu2103Arg)
c.6362T>G (p.Leu2121Arg)
n.6967T>G
c.6371T>G (p.Leu2124Arg)
c.6213+1374T>G (n.6213+1374T>G)
17g.18145967G>ACA8424580MYO15Ac.6369G>A (p.Leu2123=)
c.6309G>A (p.Leu2103=)
c.6363G>A (p.Leu2121=)
n.6968G>A
c.6372G>A (p.Leu2124=)
c.6213+1375G>A (n.6213+1375G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.18145967G>CCA498430475MYO15Ac.6369G>C (p.Leu2123=)
c.6309G>C (p.Leu2103=)
c.6363G>C (p.Leu2121=)
n.6968G>C
c.6372G>C (p.Leu2124=)
c.6213+1375G>C (n.6213+1375G>C)
17g.18145967G=CA2250850337MYO15Ac.6369G= (p.Leu2123=)
c.6309G= (p.Leu2103=)
c.6363G= (p.Leu2121=)
n.6968G=
c.6372G= (p.Leu2124=)
c.6213+1375G= (n.6213+1375G=)
17g.18145967G>TCA498430476MYO15Ac.6369G>T (p.Leu2123=)
c.6309G>T (p.Leu2103=)
c.6363G>T (p.Leu2121=)
n.6968G>T
c.6372G>T (p.Leu2124=)
c.6213+1375G>T (n.6213+1375G>T)
gnomAD v4
17g.18145968C>ACA498430477MYO15Ac.6370C>A (p.Arg2124=)
c.6310C>A (p.Arg2104=)
c.6364C>A (p.Arg2122=)
n.6969C>A
c.6373C>A (p.Arg2125=)
c.6213+1376C>A (n.6213+1376C>A)
gnomAD v4
17g.18145968C=CA2250850338MYO15Ac.6370C= (p.Arg2124=)
c.6310C= (p.Arg2104=)
c.6364C= (p.Arg2122=)
n.6969C=
c.6373C= (p.Arg2125=)
c.6213+1376C= (n.6213+1376C=)
17g.18145968C>GCA398606700MYO15Ac.6370C>G (p.Arg2124Gly)
c.6310C>G (p.Arg2104Gly)
c.6364C>G (p.Arg2122Gly)
n.6969C>G
c.6373C>G (p.Arg2125Gly)
c.6213+1376C>G (n.6213+1376C>G)
gnomAD v4
17g.18145968C>TCA8424581MYO15Ac.6370C>T (p.Arg2124Trp)
c.6310C>T (p.Arg2104Trp)
c.6364C>T (p.Arg2122Trp)
n.6969C>T
c.6373C>T (p.Arg2125Trp)
c.6213+1376C>T (n.6213+1376C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18145969G>ACA8424582MYO15Ac.6371G>A (p.Arg2124Gln)
c.6311G>A (p.Arg2104Gln)
c.6365G>A (p.Arg2122Gln)
n.6970G>A
c.6374G>A (p.Arg2125Gln)
c.6213+1377G>A (n.6213+1377G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18145969G>CCA398606704MYO15Ac.6371G>C (p.Arg2124Pro)
c.6311G>C (p.Arg2104Pro)
c.6365G>C (p.Arg2122Pro)
n.6970G>C
c.6374G>C (p.Arg2125Pro)
c.6213+1377G>C (n.6213+1377G>C)
17g.18145969G=CA2250850339MYO15Ac.6371G= (p.Arg2124=)
c.6311G= (p.Arg2104=)
c.6365G= (p.Arg2122=)
n.6970G=
c.6374G= (p.Arg2125=)
c.6213+1377G= (n.6213+1377G=)
17g.18145969G>TCA398606706MYO15Ac.6371G>T (p.Arg2124Leu)
c.6311G>T (p.Arg2104Leu)
c.6365G>T (p.Arg2122Leu)
n.6970G>T
c.6374G>T (p.Arg2125Leu)
c.6213+1377G>T (n.6213+1377G>T)
17g.18145970G>ACA498430478MYO15Ac.6372G>A (p.Arg2124=)
c.6312G>A (p.Arg2104=)
c.6366G>A (p.Arg2122=)
n.6971G>A
c.6375G>A (p.Arg2125=)
c.6213+1378G>A (n.6213+1378G>A)
gnomAD v4
17g.18145970G>CCA498430479MYO15Ac.6372G>C (p.Arg2124=)
c.6312G>C (p.Arg2104=)
c.6366G>C (p.Arg2122=)
n.6971G>C
c.6375G>C (p.Arg2125=)
c.6213+1378G>C (n.6213+1378G>C)
17g.18145970G>TCA498430480MYO15Ac.6372G>T (p.Arg2124=)
c.6312G>T (p.Arg2104=)
c.6366G>T (p.Arg2122=)
n.6971G>T
c.6375G>T (p.Arg2125=)
c.6213+1378G>T (n.6213+1378G>T)
17g.18145971G>ACA398606710MYO15Ac.6373G>A (p.Asp2125Asn)
c.6313G>A (p.Asp2105Asn)
c.6367G>A (p.Asp2123Asn)
n.6972G>A
c.6376G>A (p.Asp2126Asn)
c.6213+1379G>A (n.6213+1379G>A)
17g.18145971G>CCA398606712MYO15Ac.6373G>C (p.Asp2125His)
c.6313G>C (p.Asp2105His)
c.6367G>C (p.Asp2123His)
n.6972G>C
c.6376G>C (p.Asp2126His)
c.6213+1379G>C (n.6213+1379G>C)
17g.18145971G>TCA398606708MYO15Ac.6373G>T (p.Asp2125Tyr)
c.6313G>T (p.Asp2105Tyr)
c.6367G>T (p.Asp2123Tyr)
n.6972G>T
c.6376G>T (p.Asp2126Tyr)
c.6213+1379G>T (n.6213+1379G>T)
gnomAD v4
17g.18145972A>CCA398606715MYO15Ac.6374A>C (p.Asp2125Ala)
c.6314A>C (p.Asp2105Ala)
c.6368A>C (p.Asp2123Ala)
n.6973A>C
c.6377A>C (p.Asp2126Ala)
c.6213+1380A>C (n.6213+1380A>C)
17g.18145972A>GCA398606716MYO15Ac.6374A>G (p.Asp2125Gly)
c.6314A>G (p.Asp2105Gly)
c.6368A>G (p.Asp2123Gly)
n.6973A>G
c.6377A>G (p.Asp2126Gly)
c.6213+1380A>G (n.6213+1380A>G)
17g.18145972A>TCA398606719MYO15Ac.6374A>T (p.Asp2125Val)
c.6314A>T (p.Asp2105Val)
c.6368A>T (p.Asp2123Val)
n.6973A>T
c.6377A>T (p.Asp2126Val)
c.6213+1380A>T (n.6213+1380A>T)
gnomAD v4
17g.18145973T>ACA398606721MYO15Ac.6375T>A (p.Asp2125Glu)
c.6315T>A (p.Asp2105Glu)
c.6369T>A (p.Asp2123Glu)
n.6974T>A
c.6378T>A (p.Asp2126Glu)
c.6213+1381T>A (n.6213+1381T>A)
17g.18145973T>CCA498430481MYO15Ac.6375T>C (p.Asp2125=)
c.6315T>C (p.Asp2105=)
c.6369T>C (p.Asp2123=)
n.6974T>C
c.6378T>C (p.Asp2126=)
c.6213+1381T>C (n.6213+1381T>C)
dbSNP
17g.18145973T>GCA398606722MYO15Ac.6375T>G (p.Asp2125Glu)
c.6315T>G (p.Asp2105Glu)
c.6369T>G (p.Asp2123Glu)
n.6974T>G
c.6378T>G (p.Asp2126Glu)
c.6213+1381T>G (n.6213+1381T>G)
gnomAD v4
17g.18145974G>ACA398606729MYO15Ac.6376G>A (p.Glu2126Lys)
c.6316G>A (p.Glu2106Lys)
c.6370G>A (p.Glu2124Lys)
n.6975G>A
c.6379G>A (p.Glu2127Lys)
c.6213+1382G>A (n.6213+1382G>A)
17g.18145974G>CCA398606725MYO15Ac.6376G>C (p.Glu2126Gln)
c.6316G>C (p.Glu2106Gln)
c.6370G>C (p.Glu2124Gln)
n.6975G>C
c.6379G>C (p.Glu2127Gln)
c.6213+1382G>C (n.6213+1382G>C)
17g.18145974G>TCA398606727MYO15Ac.6376G>T (p.Glu2126Ter)
c.6316G>T (p.Glu2106Ter)
c.6370G>T (p.Glu2124Ter)
n.6975G>T
c.6379G>T (p.Glu2127Ter)
c.6213+1382G>T (n.6213+1382G>T)
17g.18145975A>CCA398606732MYO15Ac.6377A>C (p.Glu2126Ala)
c.6317A>C (p.Glu2106Ala)
c.6371A>C (p.Glu2124Ala)
n.6976A>C
c.6380A>C (p.Glu2127Ala)
c.6213+1383A>C (n.6213+1383A>C)
17g.18145975A>GCA398606733MYO15Ac.6377A>G (p.Glu2126Gly)
c.6317A>G (p.Glu2106Gly)
c.6371A>G (p.Glu2124Gly)
n.6976A>G
c.6380A>G (p.Glu2127Gly)
c.6213+1383A>G (n.6213+1383A>G)
17g.18145975A>TCA398606735MYO15Ac.6377A>T (p.Glu2126Val)
c.6317A>T (p.Glu2106Val)
c.6371A>T (p.Glu2124Val)
n.6976A>T
c.6380A>T (p.Glu2127Val)
c.6213+1383A>T (n.6213+1383A>T)
17g.18145976G>ACA498430482MYO15Ac.6378G>A (p.Glu2126=)
c.6318G>A (p.Glu2106=)
c.6372G>A (p.Glu2124=)
n.6977G>A
c.6381G>A (p.Glu2127=)
c.6213+1384G>A (n.6213+1384G>A)
17g.18145976G>CCA398606737MYO15Ac.6378G>C (p.Glu2126Asp)
c.6318G>C (p.Glu2106Asp)
c.6372G>C (p.Glu2124Asp)
n.6977G>C
c.6381G>C (p.Glu2127Asp)
c.6213+1384G>C (n.6213+1384G>C)
ClinVar dbSNP
17g.18145976G=CA2250850340MYO15Ac.6378G= (p.Glu2126=)
c.6318G= (p.Glu2106=)
c.6372G= (p.Glu2124=)
n.6977G=
c.6381G= (p.Glu2127=)
c.6213+1384G= (n.6213+1384G=)
17g.18145976G>TCA398606739MYO15Ac.6378G>T (p.Glu2126Asp)
c.6318G>T (p.Glu2106Asp)
c.6372G>T (p.Glu2124Asp)
n.6977G>T
c.6381G>T (p.Glu2127Asp)
c.6213+1384G>T (n.6213+1384G>T)
17g.18145977A=CA2250850341MYO15Ac.6379A= (p.Ile2127=)
c.6319A= (p.Ile2107=)
c.6373A= (p.Ile2125=)
n.6978A=
c.6382A= (p.Ile2128=)
c.6213+1385A= (n.6213+1385A=)
17g.18145977A>CCA398606743MYO15Ac.6379A>C (p.Ile2127Leu)
c.6319A>C (p.Ile2107Leu)
c.6373A>C (p.Ile2125Leu)
n.6978A>C
c.6382A>C (p.Ile2128Leu)
c.6213+1385A>C (n.6213+1385A>C)
17g.18145977A>GCA8424583MYO15Ac.6379A>G (p.Ile2127Val)
c.6319A>G (p.Ile2107Val)
c.6373A>G (p.Ile2125Val)
n.6978A>G
c.6382A>G (p.Ile2128Val)
c.6213+1385A>G (n.6213+1385A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.18145977A>TCA398606741MYO15Ac.6379A>T (p.Ile2127Phe)
c.6319A>T (p.Ile2107Phe)
c.6373A>T (p.Ile2125Phe)
n.6978A>T
c.6382A>T (p.Ile2128Phe)
c.6213+1385A>T (n.6213+1385A>T)
17g.18145978T>ACA398606745MYO15Ac.6380T>A (p.Ile2127Asn)
c.6320T>A (p.Ile2107Asn)
c.6374T>A (p.Ile2125Asn)
n.6979T>A
c.6383T>A (p.Ile2128Asn)
c.6213+1386T>A (n.6213+1386T>A)
17g.18145978T>CCA398606748MYO15Ac.6380T>C (p.Ile2127Thr)
c.6320T>C (p.Ile2107Thr)
c.6374T>C (p.Ile2125Thr)
n.6979T>C
c.6383T>C (p.Ile2128Thr)
c.6213+1386T>C (n.6213+1386T>C)
gnomAD v4
17g.18145978T>GCA398606746MYO15Ac.6380T>G (p.Ile2127Ser)
c.6320T>G (p.Ile2107Ser)
c.6374T>G (p.Ile2125Ser)
n.6979T>G
c.6383T>G (p.Ile2128Ser)
c.6213+1386T>G (n.6213+1386T>G)
17g.18145979C>ACA498430484MYO15Ac.6381C>A (p.Ile2127=)
c.6321C>A (p.Ile2107=)
c.6375C>A (p.Ile2125=)
n.6980C>A
c.6384C>A (p.Ile2128=)
c.6213+1387C>A (n.6213+1387C>A)
dbSNP gnomAD v4
17g.18145979C=CA2250850342MYO15Ac.6381C= (p.Ile2127=)
c.6321C= (p.Ile2107=)
c.6375C= (p.Ile2125=)
n.6980C=
c.6384C= (p.Ile2128=)
c.6213+1387C= (n.6213+1387C=)
17g.18145979C>GCA398606750MYO15Ac.6381C>G (p.Ile2127Met)
c.6321C>G (p.Ile2107Met)
c.6375C>G (p.Ile2125Met)
n.6980C>G
c.6384C>G (p.Ile2128Met)
c.6213+1387C>G (n.6213+1387C>G)
17g.18145979C>TCA498430483MYO15Ac.6381C>T (p.Ile2127=)
c.6321C>T (p.Ile2107=)
c.6375C>T (p.Ile2125=)
n.6980C>T
c.6384C>T (p.Ile2128=)
c.6213+1387C>T (n.6213+1387C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.18145980C>ACA398606753MYO15Ac.6382C>A (p.Leu2128Met)
c.6322C>A (p.Leu2108Met)
c.6376C>A (p.Leu2126Met)
n.6981C>A
c.6385C>A (p.Leu2129Met)
c.6213+1388C>A (n.6213+1388C>A)
17g.18145980C>GCA398606754MYO15Ac.6382C>G (p.Leu2128Val)
c.6322C>G (p.Leu2108Val)
c.6376C>G (p.Leu2126Val)
n.6981C>G
c.6385C>G (p.Leu2129Val)
c.6213+1388C>G (n.6213+1388C>G)
17g.18145980C>TCA498430485MYO15Ac.6382C>T (p.Leu2128=)
c.6322C>T (p.Leu2108=)
c.6376C>T (p.Leu2126=)
n.6981C>T
c.6385C>T (p.Leu2129=)
c.6213+1388C>T (n.6213+1388C>T)
gnomAD v4
17g.18145981T>ACA398606757MYO15Ac.6383T>A (p.Leu2128Gln)
c.6323T>A (p.Leu2108Gln)
c.6377T>A (p.Leu2126Gln)
n.6982T>A
c.6386T>A (p.Leu2129Gln)
c.6213+1389T>A (n.6213+1389T>A)
17g.18145981T>CCA398606759MYO15Ac.6383T>C (p.Leu2128Pro)
c.6323T>C (p.Leu2108Pro)
c.6377T>C (p.Leu2126Pro)
n.6982T>C
c.6386T>C (p.Leu2129Pro)
c.6213+1389T>C (n.6213+1389T>C)
17g.18145981T>GCA398606760MYO15Ac.6383T>G (p.Leu2128Arg)
c.6323T>G (p.Leu2108Arg)
c.6377T>G (p.Leu2126Arg)
n.6982T>G
c.6386T>G (p.Leu2129Arg)
c.6213+1389T>G (n.6213+1389T>G)
17g.18145982G>ACA498430486MYO15Ac.6384G>A (p.Leu2128=)
c.6324G>A (p.Leu2108=)
c.6378G>A (p.Leu2126=)
n.6983G>A
c.6387G>A (p.Leu2129=)
c.6213+1390G>A (n.6213+1390G>A)
17g.18145982G>CCA498430487MYO15Ac.6384G>C (p.Leu2128=)
c.6324G>C (p.Leu2108=)
c.6378G>C (p.Leu2126=)
n.6983G>C
c.6387G>C (p.Leu2129=)
c.6213+1390G>C (n.6213+1390G>C)
17g.18145982G>TCA498430488MYO15Ac.6384G>T (p.Leu2128=)
c.6324G>T (p.Leu2108=)
c.6378G>T (p.Leu2126=)
n.6983G>T
c.6387G>T (p.Leu2129=)
c.6213+1390G>T (n.6213+1390G>T)
17g.18145983G>ACA398606763MYO15Ac.6385G>A (p.Ala2129Thr)
c.6325G>A (p.Ala2109Thr)
c.6379G>A (p.Ala2127Thr)
n.6984G>A
c.6388G>A (p.Ala2130Thr)
c.6213+1391G>A (n.6213+1391G>A)
17g.18145983G>CCA398606765MYO15Ac.6385G>C (p.Ala2129Pro)
c.6325G>C (p.Ala2109Pro)
c.6379G>C (p.Ala2127Pro)
n.6984G>C
c.6388G>C (p.Ala2130Pro)
c.6213+1391G>C (n.6213+1391G>C)
17g.18145983G>TCA398606767MYO15Ac.6385G>T (p.Ala2129Ser)
c.6325G>T (p.Ala2109Ser)
c.6379G>T (p.Ala2127Ser)
n.6984G>T
c.6388G>T (p.Ala2130Ser)
c.6213+1391G>T (n.6213+1391G>T)
17g.18145984C>ACA398606769MYO15Ac.6386C>A (p.Ala2129Glu)
c.6326C>A (p.Ala2109Glu)
c.6380C>A (p.Ala2127Glu)
n.6985C>A
c.6389C>A (p.Ala2130Glu)
c.6213+1392C>A (n.6213+1392C>A)
17g.18145984C>GCA398606771MYO15Ac.6386C>G (p.Ala2129Gly)
c.6326C>G (p.Ala2109Gly)
c.6380C>G (p.Ala2127Gly)
n.6985C>G
c.6389C>G (p.Ala2130Gly)
c.6213+1392C>G (n.6213+1392C>G)
17g.18145984C>TCA398606772MYO15Ac.6386C>T (p.Ala2129Val)
c.6326C>T (p.Ala2109Val)
c.6380C>T (p.Ala2127Val)
n.6985C>T
c.6389C>T (p.Ala2130Val)
c.6213+1392C>T (n.6213+1392C>T)
gnomAD v4
17g.18145985A>CCA498430489MYO15Ac.6387A>C (p.Ala2129=)
c.6327A>C (p.Ala2109=)
c.6381A>C (p.Ala2127=)
n.6986A>C
c.6390A>C (p.Ala2130=)
c.6213+1393A>C (n.6213+1393A>C)
17g.18145985A>GCA498430491MYO15Ac.6387A>G (p.Ala2129=)
c.6327A>G (p.Ala2109=)
c.6381A>G (p.Ala2127=)
n.6986A>G
c.6390A>G (p.Ala2130=)
c.6213+1393A>G (n.6213+1393A>G)
17g.18145985A>TCA498430490MYO15Ac.6387A>T (p.Ala2129=)
c.6327A>T (p.Ala2109=)
c.6381A>T (p.Ala2127=)
n.6986A>T
c.6390A>T (p.Ala2130=)
c.6213+1393A>T (n.6213+1393A>T)
COSMIC
17g.18145986C>ACA398606779MYO15Ac.6388C>A (p.Gln2130Lys)
c.6328C>A (p.Gln2110Lys)
c.6382C>A (p.Gln2128Lys)
n.6987C>A
c.6391C>A (p.Gln2131Lys)
c.6213+1394C>A (n.6213+1394C>A)
17g.18145986C>GCA398606776MYO15Ac.6388C>G (p.Gln2130Glu)
c.6328C>G (p.Gln2110Glu)
c.6382C>G (p.Gln2128Glu)
n.6987C>G
c.6391C>G (p.Gln2131Glu)
c.6213+1394C>G (n.6213+1394C>G)
17g.18145986C>TCA398606777MYO15Ac.6388C>T (p.Gln2130Ter)
c.6328C>T (p.Gln2110Ter)
c.6382C>T (p.Gln2128Ter)
n.6987C>T
c.6391C>T (p.Gln2131Ter)
c.6213+1394C>T (n.6213+1394C>T)
gnomAD v4
17g.18145988_18145995delCA2636448338MYO15Ac.6390_6397del (p.Leu2131SerfsTer12)
c.6330_6337del (p.Leu2111SerfsTer12)
c.6330_6337del (p.Leu2111SerfsTer?)
c.6384_6391del (p.Leu2129SerfsTer12)
n.6989_6996del
c.6393_6400del (p.Leu2132SerfsTer12)
c.6213+1396_6213+1403del (n.6213+1396_6213+1403del)
gnomAD v4
17g.18145987A>CCA398606781MYO15Ac.6389A>C (p.Gln2130Pro)
c.6329A>C (p.Gln2110Pro)
c.6383A>C (p.Gln2128Pro)
n.6988A>C
c.6392A>C (p.Gln2131Pro)
c.6213+1395A>C (n.6213+1395A>C)
17g.18145987A>GCA398606783MYO15Ac.6389A>G (p.Gln2130Arg)
c.6329A>G (p.Gln2110Arg)
c.6383A>G (p.Gln2128Arg)
n.6988A>G
c.6392A>G (p.Gln2131Arg)
c.6213+1395A>G (n.6213+1395A>G)
gnomAD v4
17g.18145987A>TCA398606785MYO15Ac.6389A>T (p.Gln2130Leu)
c.6329A>T (p.Gln2110Leu)
c.6383A>T (p.Gln2128Leu)
n.6988A>T
c.6392A>T (p.Gln2131Leu)
c.6213+1395A>T (n.6213+1395A>T)
17g.18145988G>ACA498430492MYO15Ac.6390G>A (p.Gln2130=)
c.6330G>A (p.Gln2110=)
c.6384G>A (p.Gln2128=)
n.6989G>A
c.6393G>A (p.Gln2131=)
c.6213+1396G>A (n.6213+1396G>A)
17g.18145988G>CCA398606787MYO15Ac.6390G>C (p.Gln2130His)
c.6330G>C (p.Gln2110His)
c.6384G>C (p.Gln2128His)
n.6989G>C
c.6393G>C (p.Gln2131His)
c.6213+1396G>C (n.6213+1396G>C)
17g.18145988G>TCA398606789MYO15Ac.6390G>T (p.Gln2130His)
c.6330G>T (p.Gln2110His)
c.6384G>T (p.Gln2128His)
n.6989G>T
c.6393G>T (p.Gln2131His)
c.6213+1396G>T (n.6213+1396G>T)
17g.18145989C>ACA398606790MYO15Ac.6391C>A (p.Leu2131Met)
c.6331C>A (p.Leu2111Met)
c.6385C>A (p.Leu2129Met)
n.6990C>A
c.6394C>A (p.Leu2132Met)
c.6213+1397C>A (n.6213+1397C>A)
17g.18145989C=CA2250850343MYO15Ac.6391C= (p.Leu2131=)
c.6331C= (p.Leu2111=)
c.6385C= (p.Leu2129=)
n.6990C=
c.6394C= (p.Leu2132=)
c.6213+1397C= (n.6213+1397C=)
17g.18145989C>GCA398606792MYO15Ac.6391C>G (p.Leu2131Val)
c.6331C>G (p.Leu2111Val)
c.6385C>G (p.Leu2129Val)
n.6990C>G
c.6394C>G (p.Leu2132Val)
c.6213+1397C>G (n.6213+1397C>G)
17g.18145989C>TCA498430493MYO15Ac.6391C>T (p.Leu2131=)
c.6331C>T (p.Leu2111=)
c.6385C>T (p.Leu2129=)
n.6990C>T
c.6394C>T (p.Leu2132=)
c.6213+1397C>T (n.6213+1397C>T)
dbSNP
17g.18145990T>ACA398606795MYO15Ac.6392T>A (p.Leu2131Gln)
c.6332T>A (p.Leu2111Gln)
c.6386T>A (p.Leu2129Gln)
n.6991T>A
c.6395T>A (p.Leu2132Gln)
c.6213+1398T>A (n.6213+1398T>A)
17g.18145990T>CCA398606796MYO15Ac.6392T>C (p.Leu2131Pro)
c.6332T>C (p.Leu2111Pro)
c.6386T>C (p.Leu2129Pro)
n.6991T>C
c.6395T>C (p.Leu2132Pro)
c.6213+1398T>C (n.6213+1398T>C)
17g.18145990T>GCA398606799MYO15Ac.6392T>G (p.Leu2131Arg)
c.6332T>G (p.Leu2111Arg)
c.6386T>G (p.Leu2129Arg)
n.6991T>G
c.6395T>G (p.Leu2132Arg)
c.6213+1398T>G (n.6213+1398T>G)
17g.18145991G>ACA498430494MYO15Ac.6393G>A (p.Leu2131=)
c.6333G>A (p.Leu2111=)
c.6387G>A (p.Leu2129=)
n.6992G>A
c.6396G>A (p.Leu2132=)
c.6213+1399G>A (n.6213+1399G>A)
gnomAD v4
17g.18145991G>CCA498430495MYO15Ac.6393G>C (p.Leu2131=)
c.6333G>C (p.Leu2111=)
c.6387G>C (p.Leu2129=)
n.6992G>C
c.6396G>C (p.Leu2132=)
c.6213+1399G>C (n.6213+1399G>C)
17g.18145991G>TCA498430496MYO15Ac.6393G>T (p.Leu2131=)
c.6333G>T (p.Leu2111=)
c.6387G>T (p.Leu2129=)
n.6992G>T
c.6396G>T (p.Leu2132=)
c.6213+1399G>T (n.6213+1399G>T)
17g.18145992G>ACA398606805MYO15Ac.6394G>A (p.Ala2132Thr)
c.6334G>A (p.Ala2112Thr)
c.6388G>A (p.Ala2130Thr)
n.6993G>A
c.6397G>A (p.Ala2133Thr)
c.6213+1400G>A (n.6213+1400G>A)
17g.18145992G>CCA398606803MYO15Ac.6394G>C (p.Ala2132Pro)
c.6334G>C (p.Ala2112Pro)
c.6388G>C (p.Ala2130Pro)
n.6993G>C
c.6397G>C (p.Ala2133Pro)
c.6213+1400G>C (n.6213+1400G>C)
17g.18145992G>TCA398606801MYO15Ac.6394G>T (p.Ala2132Ser)
c.6334G>T (p.Ala2112Ser)
c.6388G>T (p.Ala2130Ser)
n.6993G>T
c.6397G>T (p.Ala2133Ser)
c.6213+1400G>T (n.6213+1400G>T)
17g.18145993C>ACA398606806MYO15Ac.6395C>A (p.Ala2132Asp)
c.6335C>A (p.Ala2112Asp)
c.6389C>A (p.Ala2130Asp)
n.6994C>A
c.6398C>A (p.Ala2133Asp)
c.6213+1401C>A (n.6213+1401C>A)
17g.18145993C>GCA398606807MYO15Ac.6395C>G (p.Ala2132Gly)
c.6335C>G (p.Ala2112Gly)
c.6389C>G (p.Ala2130Gly)
n.6994C>G
c.6398C>G (p.Ala2133Gly)
c.6213+1401C>G (n.6213+1401C>G)
17g.18145993C>TCA398606809MYO15Ac.6395C>T (p.Ala2132Val)
c.6335C>T (p.Ala2112Val)
c.6389C>T (p.Ala2130Val)
n.6994C>T
c.6398C>T (p.Ala2133Val)
c.6213+1401C>T (n.6213+1401C>T)
17g.18145994C>ACA498430498MYO15Ac.6396C>A (p.Ala2132=)
c.6336C>A (p.Ala2112=)
c.6390C>A (p.Ala2130=)
n.6995C>A
c.6399C>A (p.Ala2133=)
c.6213+1402C>A (n.6213+1402C>A)
17g.18145994C>GCA498430499MYO15Ac.6396C>G (p.Ala2132=)
c.6336C>G (p.Ala2112=)
c.6390C>G (p.Ala2130=)
n.6995C>G
c.6399C>G (p.Ala2133=)
c.6213+1402C>G (n.6213+1402C>G)
17g.18145994C>TCA498430497MYO15Ac.6396C>T (p.Ala2132=)
c.6336C>T (p.Ala2112=)
c.6390C>T (p.Ala2130=)
n.6995C>T
c.6399C>T (p.Ala2133=)
c.6213+1402C>T (n.6213+1402C>T)
dbSNP
17g.18145995A=CA2250850344MYO15Ac.6397A= (p.Asn2133=)
c.6337A= (p.Asn2113=)
c.6391A= (p.Asn2131=)
n.6996A=
c.6400A= (p.Asn2134=)
c.6213+1403A= (n.6213+1403A=)
17g.18145995A>CCA398606811MYO15Ac.6397A>C (p.Asn2133His)
c.6337A>C (p.Asn2113His)
c.6391A>C (p.Asn2131His)
n.6996A>C
c.6400A>C (p.Asn2134His)
c.6213+1403A>C (n.6213+1403A>C)
17g.18145995A>GCA8424584MYO15Ac.6397A>G (p.Asn2133Asp)
c.6337A>G (p.Asn2113Asp)
c.6391A>G (p.Asn2131Asp)
n.6996A>G
c.6400A>G (p.Asn2134Asp)
c.6213+1403A>G (n.6213+1403A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.18145995A>TCA398606814MYO15Ac.6397A>T (p.Asn2133Tyr)
c.6337A>T (p.Asn2113Tyr)
c.6391A>T (p.Asn2131Tyr)
n.6996A>T
c.6400A>T (p.Asn2134Tyr)
c.6213+1403A>T (n.6213+1403A>T)
17g.18145996A=CA2250850345MYO15Ac.6398A= (p.Asn2133=)
c.6338A= (p.Asn2113=)
c.6392A= (p.Asn2131=)
n.6997A=
c.6401A= (p.Asn2134=)
c.6213+1404A= (n.6213+1404A=)
17g.18145996A>CCA398606819MYO15Ac.6398A>C (p.Asn2133Thr)
c.6338A>C (p.Asn2113Thr)
c.6392A>C (p.Asn2131Thr)
n.6997A>C
c.6401A>C (p.Asn2134Thr)
c.6213+1404A>C (n.6213+1404A>C)
17g.18145996A>GCA8424585MYO15Ac.6398A>G (p.Asn2133Ser)
c.6338A>G (p.Asn2113Ser)
c.6392A>G (p.Asn2131Ser)
n.6997A>G
c.6401A>G (p.Asn2134Ser)
c.6213+1404A>G (n.6213+1404A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18145996A>TCA398606817MYO15Ac.6398A>T (p.Asn2133Ile)
c.6338A>T (p.Asn2113Ile)
c.6392A>T (p.Asn2131Ile)
n.6997A>T
c.6401A>T (p.Asn2134Ile)
c.6213+1404A>T (n.6213+1404A>T)
17g.18145997T>ACA398606821MYO15Ac.6399T>A (p.Asn2133Lys)
c.6339T>A (p.Asn2113Lys)
c.6393T>A (p.Asn2131Lys)
n.6998T>A
c.6402T>A (p.Asn2134Lys)
c.6213+1405T>A (n.6213+1405T>A)
17g.18145997T>CCA498430500MYO15Ac.6399T>C (p.Asn2133=)
c.6339T>C (p.Asn2113=)
c.6393T>C (p.Asn2131=)
n.6998T>C
c.6402T>C (p.Asn2134=)
c.6213+1405T>C (n.6213+1405T>C)
17g.18145997T>GCA398606822MYO15Ac.6399T>G (p.Asn2133Lys)
c.6339T>G (p.Asn2113Lys)
c.6393T>G (p.Asn2131Lys)
n.6998T>G
c.6402T>G (p.Asn2134Lys)
c.6213+1405T>G (n.6213+1405T>G)
17g.18145998C>ACA398606824MYO15Ac.6400C>A (p.Gln2134Lys)
c.6340C>A (p.Gln2114Lys)
c.6394C>A (p.Gln2132Lys)
n.6999C>A
c.6403C>A (p.Gln2135Lys)
c.6213+1406C>A (n.6213+1406C>A)
17g.18145998C>GCA398606826MYO15Ac.6400C>G (p.Gln2134Glu)
c.6340C>G (p.Gln2114Glu)
c.6394C>G (p.Gln2132Glu)
n.6999C>G
c.6403C>G (p.Gln2135Glu)
c.6213+1406C>G (n.6213+1406C>G)
17g.18145998C>TCA398606827MYO15Ac.6400C>T (p.Gln2134Ter)
c.6340C>T (p.Gln2114Ter)
c.6394C>T (p.Gln2132Ter)
n.6999C>T
c.6403C>T (p.Gln2135Ter)
c.6213+1406C>T (n.6213+1406C>T)
17g.18146011_18146012insACAGGTGTGGCACAACA2636448366MYO15Ac.6413_6414insACAGGTGTGGCACAA (p.His2137_Asn2138insLysGlnValTrpHis)
c.6353_6354insACAGGTGTGGCACAA (p.His2117_Asn2118insLysGlnValTrpHis)
c.6342+11_6342+12insACAGGTGTGGCACAA
c.6407_6408insACAGGTGTGGCACAA (p.His2135_Asn2136insLysGlnValTrpHis)
n.7012_7013insACAGGTGTGGCACAA
c.6416_6417insACAGGTGTGGCACAA (p.His2138_Asn2139insLysGlnValTrpHis)
c.6213+1419_6213+1420insACAGGTGTGGCACAA (n.6213+1419_6213+1420insACAGGTGTGGCACAA)
gnomAD v4
17g.18145999A>CCA398606830MYO15Ac.6401A>C (p.Gln2134Pro)
c.6341A>C (p.Gln2114Pro)
c.6395A>C (p.Gln2132Pro)
n.7000A>C
c.6404A>C (p.Gln2135Pro)
c.6213+1407A>C (n.6213+1407A>C)
17g.18145999A>GCA398606833MYO15Ac.6401A>G (p.Gln2134Arg)
c.6341A>G (p.Gln2114Arg)
c.6395A>G (p.Gln2132Arg)
n.7000A>G
c.6404A>G (p.Gln2135Arg)
c.6213+1407A>G (n.6213+1407A>G)
17g.18145999A>TCA398606831MYO15Ac.6401A>T (p.Gln2134Leu)
c.6341A>T (p.Gln2114Leu)
c.6395A>T (p.Gln2132Leu)
n.7000A>T
c.6404A>T (p.Gln2135Leu)
c.6213+1407A>T (n.6213+1407A>T)
17g.18146000G>ACA498430501MYO15Ac.6402G>A (p.Gln2134=)
c.6342G>A (p.Gln2114=)
c.6396G>A (p.Gln2132=)
n.7001G>A
c.6405G>A (p.Gln2135=)
c.6213+1408G>A (n.6213+1408G>A)
gnomAD v4
17g.18146000G>CCA398606835MYO15Ac.6402G>C (p.Gln2134His)
c.6342G>C (p.Gln2114His)
c.6396G>C (p.Gln2132His)
n.7001G>C
c.6405G>C (p.Gln2135His)
c.6213+1408G>C (n.6213+1408G>C)
17g.18146000G>TCA398606837MYO15Ac.6402G>T (p.Gln2134His)
c.6342G>T (p.Gln2114His)
c.6396G>T (p.Gln2132His)
n.7001G>T
c.6405G>T (p.Gln2135His)
c.6213+1408G>T (n.6213+1408G>T)
17g.18146001G>ACA398606839MYO15Ac.6403G>A (p.Val2135Met)
c.6343G>A (p.Val2115Met)
c.6342+1G>A (n.6342+1G>A)
c.6397G>A (p.Val2133Met)
n.7002G>A
c.6406G>A (p.Val2136Met)
c.6213+1409G>A (n.6213+1409G>A)
gnomAD v4
17g.18146001G>CCA8424586MYO15Ac.6403G>C (p.Val2135Leu)
c.6343G>C (p.Val2115Leu)
c.6342+1G>C (n.6342+1G>C)
c.6397G>C (p.Val2133Leu)
n.7002G>C
c.6406G>C (p.Val2136Leu)
c.6213+1409G>C (n.6213+1409G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18146001G=CA2250850346MYO15Ac.6403G= (p.Val2135=)
c.6343G= (p.Val2115=)
c.6342+1G= (n.6342+1G=)
c.6397G= (p.Val2133=)
n.7002G=
c.6406G= (p.Val2136=)
c.6213+1409G= (n.6213+1409G=)
17g.18146001G>TCA249421MYO15Ac.6403G>T (p.Val2135Leu)
c.6343G>T (p.Val2115Leu)
c.6342+1G>T (n.6342+1G>T)
c.6397G>T (p.Val2133Leu)
n.7002G>T
c.6406G>T (p.Val2136Leu)
c.6213+1409G>T (n.6213+1409G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18146002T>ACA398606844MYO15Ac.6404T>A (p.Val2135Glu)
c.6344T>A (p.Val2115Glu)
c.6342+2T>A (n.6342+2T>A)
c.6398T>A (p.Val2133Glu)
n.7003T>A
c.6407T>A (p.Val2136Glu)
c.6213+1410T>A (n.6213+1410T>A)
17g.18146002T>CCA398606846MYO15Ac.6404T>C (p.Val2135Ala)
c.6344T>C (p.Val2115Ala)
c.6342+2T>C (n.6342+2T>C)
c.6398T>C (p.Val2133Ala)
n.7003T>C
c.6407T>C (p.Val2136Ala)
c.6213+1410T>C (n.6213+1410T>C)
17g.18146002T>GCA398606848MYO15Ac.6404T>G (p.Val2135Gly)
c.6344T>G (p.Val2115Gly)
c.6342+2T>G (n.6342+2T>G)
c.6398T>G (p.Val2133Gly)
n.7003T>G
c.6407T>G (p.Val2136Gly)
c.6213+1410T>G (n.6213+1410T>G)
dbSNP
17g.18146002T=CA2250850347MYO15Ac.6404T= (p.Val2135=)
c.6344T= (p.Val2115=)
c.6342+2T= (n.6342+2T=)
c.6398T= (p.Val2133=)
n.7003T=
c.6407T= (p.Val2136=)
c.6213+1410T= (n.6213+1410T=)
17g.18146003G>ACA498430502MYO15Ac.6405G>A (p.Val2135=)
c.6345G>A (p.Val2115=)
c.6342+3G>A (n.6342+3G>A)
c.6399G>A (p.Val2133=)
n.7004G>A
c.6408G>A (p.Val2136=)
c.6213+1411G>A (n.6213+1411G>A)
gnomAD v4
17g.18146003G>CCA498430503MYO15Ac.6405G>C (p.Val2135=)
c.6345G>C (p.Val2115=)
c.6342+3G>C (n.6342+3G>C)
c.6399G>C (p.Val2133=)
n.7004G>C
c.6408G>C (p.Val2136=)
c.6213+1411G>C (n.6213+1411G>C)
17g.18146003G>TCA498430504MYO15Ac.6405G>T (p.Val2135=)
c.6345G>T (p.Val2115=)
c.6342+3G>T (n.6342+3G>T)
c.6399G>T (p.Val2133=)
n.7004G>T
c.6408G>T (p.Val2136=)
c.6213+1411G>T (n.6213+1411G>T)
17g.18146004T>ACA398606850MYO15Ac.6406T>A (p.Trp2136Arg)
c.6346T>A (p.Trp2116Arg)
c.6342+4T>A (n.6342+4T>A)
c.6400T>A (p.Trp2134Arg)
n.7005T>A
c.6409T>A (p.Trp2137Arg)
c.6213+1412T>A (n.6213+1412T>A)
17g.18146004T>CCA398606852MYO15Ac.6406T>C (p.Trp2136Arg)
c.6346T>C (p.Trp2116Arg)
c.6342+4T>C (n.6342+4T>C)
c.6400T>C (p.Trp2134Arg)
n.7005T>C
c.6409T>C (p.Trp2137Arg)
c.6213+1412T>C (n.6213+1412T>C)
17g.18146004T>GCA398606853MYO15Ac.6406T>G (p.Trp2136Gly)
c.6346T>G (p.Trp2116Gly)
c.6342+4T>G (n.6342+4T>G)
c.6400T>G (p.Trp2134Gly)
n.7005T>G
c.6409T>G (p.Trp2137Gly)
c.6213+1412T>G (n.6213+1412T>G)
dbSNP
17g.18146004T=CA2250850348MYO15Ac.6406T= (p.Trp2136=)
c.6346T= (p.Trp2116=)
c.6342+4T= (n.6342+4T=)
c.6400T= (p.Trp2134=)
n.7005T=
c.6409T= (p.Trp2137=)
c.6213+1412T= (n.6213+1412T=)
17g.18146005G>ACA398606856MYO15Ac.6407G>A (p.Trp2136Ter)
c.6347G>A (p.Trp2116Ter)
c.6342+5G>A (n.6342+5G>A)
c.6401G>A (p.Trp2134Ter)
n.7006G>A
c.6410G>A (p.Trp2137Ter)
c.6213+1413G>A (n.6213+1413G>A)
17g.18146005G>CCA398606858MYO15Ac.6407G>C (p.Trp2136Ser)
c.6347G>C (p.Trp2116Ser)
c.6342+5G>C (n.6342+5G>C)
c.6401G>C (p.Trp2134Ser)
n.7006G>C
c.6410G>C (p.Trp2137Ser)
c.6213+1413G>C (n.6213+1413G>C)
17g.18146005G>TCA398606855MYO15Ac.6407G>T (p.Trp2136Leu)
c.6347G>T (p.Trp2116Leu)
c.6342+5G>T (n.6342+5G>T)
c.6401G>T (p.Trp2134Leu)
n.7006G>T
c.6410G>T (p.Trp2137Leu)
c.6213+1413G>T (n.6213+1413G>T)
17g.18146006G>ACA398606862MYO15Ac.6408G>A (p.Trp2136Ter)
c.6348G>A (p.Trp2116Ter)
c.6342+6G>A (n.6342+6G>A)
c.6402G>A (p.Trp2134Ter)
n.7007G>A
c.6411G>A (p.Trp2137Ter)
c.6213+1414G>A (n.6213+1414G>A)
COSMIC
17g.18146006G>CCA398606860MYO15Ac.6408G>C (p.Trp2136Cys)
c.6348G>C (p.Trp2116Cys)
c.6342+6G>C (n.6342+6G>C)
c.6402G>C (p.Trp2134Cys)
n.7007G>C
c.6411G>C (p.Trp2137Cys)
c.6213+1414G>C (n.6213+1414G>C)
dbSNP gnomAD v2 gnomAD v4
17g.18146006G=CA2250850349MYO15Ac.6408G= (p.Trp2136=)
c.6348G= (p.Trp2116=)
c.6342+6G= (n.6342+6G=)
c.6402G= (p.Trp2134=)
n.7007G=
c.6411G= (p.Trp2137=)
c.6213+1414G= (n.6213+1414G=)
17g.18146006G>TCA398606864MYO15Ac.6408G>T (p.Trp2136Cys)
c.6348G>T (p.Trp2116Cys)
c.6342+6G>T (n.6342+6G>T)
c.6402G>T (p.Trp2134Cys)
n.7007G>T
c.6411G>T (p.Trp2137Cys)
c.6213+1414G>T (n.6213+1414G>T)
17g.18146007C>ACA398606865MYO15Ac.6409C>A (p.His2137Asn)
c.6349C>A (p.His2117Asn)
c.6342+7C>A (n.6342+7C>A)
c.6403C>A (p.His2135Asn)
n.7008C>A
c.6412C>A (p.His2138Asn)
c.6213+1415C>A (n.6213+1415C>A)
17g.18146007C>GCA398606867MYO15Ac.6409C>G (p.His2137Asp)
c.6349C>G (p.His2117Asp)
c.6342+7C>G (n.6342+7C>G)
c.6403C>G (p.His2135Asp)
n.7008C>G
c.6412C>G (p.His2138Asp)
c.6213+1415C>G (n.6213+1415C>G)
17g.18146007C>TCA398606870MYO15Ac.6409C>T (p.His2137Tyr)
c.6349C>T (p.His2117Tyr)
c.6342+7C>T (n.6342+7C>T)
c.6403C>T (p.His2135Tyr)
n.7008C>T
c.6412C>T (p.His2138Tyr)
c.6213+1415C>T (n.6213+1415C>T)
17g.18146008A>CCA398606874MYO15Ac.6410A>C (p.His2137Pro)
c.6350A>C (p.His2117Pro)
c.6342+8A>C (n.6342+8A>C)
c.6404A>C (p.His2135Pro)
n.7009A>C
c.6413A>C (p.His2138Pro)
c.6213+1416A>C (n.6213+1416A>C)
17g.18146008A>GCA398606877MYO15Ac.6410A>G (p.His2137Arg)
c.6350A>G (p.His2117Arg)
c.6342+8A>G (n.6342+8A>G)
c.6404A>G (p.His2135Arg)
n.7009A>G
c.6413A>G (p.His2138Arg)
c.6213+1416A>G (n.6213+1416A>G)
17g.18146008A>TCA398606879MYO15Ac.6410A>T (p.His2137Leu)
c.6350A>T (p.His2117Leu)
c.6342+8A>T (n.6342+8A>T)
c.6404A>T (p.His2135Leu)
n.7009A>T
c.6413A>T (p.His2138Leu)
c.6213+1416A>T (n.6213+1416A>T)
17g.18146009C>ACA398606881MYO15Ac.6411C>A (p.His2137Gln)
c.6351C>A (p.His2117Gln)
c.6342+9C>A (n.6342+9C>A)
c.6405C>A (p.His2135Gln)
n.7010C>A
c.6414C>A (p.His2138Gln)
c.6213+1417C>A (n.6213+1417C>A)
gnomAD v4
17g.18146009C>GCA398606884MYO15Ac.6411C>G (p.His2137Gln)
c.6351C>G (p.His2117Gln)
c.6342+9C>G (n.6342+9C>G)
c.6405C>G (p.His2135Gln)
n.7010C>G
c.6414C>G (p.His2138Gln)
c.6213+1417C>G (n.6213+1417C>G)
17g.18146009C>TCA498430505MYO15Ac.6411C>T (p.His2137=)
c.6351C>T (p.His2117=)
c.6342+9C>T (n.6342+9C>T)
c.6405C>T (p.His2135=)
n.7010C>T
c.6414C>T (p.His2138=)
c.6213+1417C>T (n.6213+1417C>T)
17g.18146010A=CA2250850350MYO15Ac.6412A= (p.Asn2138=)
c.6352A= (p.Asn2118=)
c.6342+10A= (n.6342+10A=)
c.6406A= (p.Asn2136=)
n.7011A=
c.6415A= (p.Asn2139=)
c.6213+1418A= (n.6213+1418A=)
17g.18146010A>CCA398606887MYO15Ac.6412A>C (p.Asn2138His)
c.6352A>C (p.Asn2118His)
c.6342+10A>C (n.6342+10A>C)
c.6406A>C (p.Asn2136His)
n.7011A>C
c.6415A>C (p.Asn2139His)
c.6213+1418A>C (n.6213+1418A>C)
17g.18146010A>GCA398606889MYO15Ac.6412A>G (p.Asn2138Asp)
c.6352A>G (p.Asn2118Asp)
c.6342+10A>G (n.6342+10A>G)
c.6406A>G (p.Asn2136Asp)
n.7011A>G
c.6415A>G (p.Asn2139Asp)
c.6213+1418A>G (n.6213+1418A>G)
dbSNP
17g.18146010A>TCA398606893MYO15Ac.6412A>T (p.Asn2138Tyr)
c.6352A>T (p.Asn2118Tyr)
c.6342+10A>T (n.6342+10A>T)
c.6406A>T (p.Asn2136Tyr)
n.7011A>T
c.6415A>T (p.Asn2139Tyr)
c.6213+1418A>T (n.6213+1418A>T)
17g.18146011A=CA2250850351MYO15Ac.6413A= (p.Asn2138=)
c.6353A= (p.Asn2118=)
c.6342+11A= (n.6342+11A=)
c.6407A= (p.Asn2136=)
n.7012A=
c.6416A= (p.Asn2139=)
c.6213+1419A= (n.6213+1419A=)
17g.18146011A>CCA398606899MYO15Ac.6413A>C (p.Asn2138Thr)
c.6353A>C (p.Asn2118Thr)
c.6342+11A>C (n.6342+11A>C)
c.6407A>C (p.Asn2136Thr)
n.7012A>C
c.6416A>C (p.Asn2139Thr)
c.6213+1419A>C (n.6213+1419A>C)
17g.18146011A>GCA288407471MYO15Ac.6413A>G (p.Asn2138Ser)
c.6353A>G (p.Asn2118Ser)
c.6342+11A>G (n.6342+11A>G)
c.6407A>G (p.Asn2136Ser)
n.7012A>G
c.6416A>G (p.Asn2139Ser)
c.6213+1419A>G (n.6213+1419A>G)
dbSNP gnomAD v4
17g.18146011A>TCA398606895MYO15Ac.6413A>T (p.Asn2138Ile)
c.6353A>T (p.Asn2118Ile)
c.6342+11A>T (n.6342+11A>T)
c.6407A>T (p.Asn2136Ile)
n.7012A>T
c.6416A>T (p.Asn2139Ile)
c.6213+1419A>T (n.6213+1419A>T)
17g.18146012T>ACA398606902MYO15Ac.6414T>A (p.Asn2138Lys)
c.6354T>A (p.Asn2118Lys)
c.6342+12T>A (n.6342+12T>A)
c.6408T>A (p.Asn2136Lys)
n.7013T>A
c.6417T>A (p.Asn2139Lys)
c.6213+1420T>A (n.6213+1420T>A)
17g.18146012T>CCA498430506MYO15Ac.6414T>C (p.Asn2138=)
c.6354T>C (p.Asn2118=)
c.6342+12T>C (n.6342+12T>C)
c.6408T>C (p.Asn2136=)
n.7013T>C
c.6417T>C (p.Asn2139=)
c.6213+1420T>C (n.6213+1420T>C)
17g.18146012T>GCA398606906MYO15Ac.6414T>G (p.Asn2138Lys)
c.6354T>G (p.Asn2118Lys)
c.6342+12T>G (n.6342+12T>G)
c.6408T>G (p.Asn2136Lys)
n.7013T>G
c.6417T>G (p.Asn2139Lys)
c.6213+1420T>G (n.6213+1420T>G)
17g.18146013C>ACA398606910MYO15Ac.6415C>A (p.His2139Asn)
c.6355C>A (p.His2119Asn)
c.6342+13C>A (n.6342+13C>A)
c.6409C>A (p.His2137Asn)
n.7014C>A
c.6418C>A (p.His2140Asn)
c.6213+1421C>A (n.6213+1421C>A)
17g.18146013C>GCA398606912MYO15Ac.6415C>G (p.His2139Asp)
c.6355C>G (p.His2119Asp)
c.6342+13C>G (n.6342+13C>G)
c.6409C>G (p.His2137Asp)
n.7014C>G
c.6418C>G (p.His2140Asp)
c.6213+1421C>G (n.6213+1421C>G)
17g.18146013C>TCA398606917MYO15Ac.6415C>T (p.His2139Tyr)
c.6355C>T (p.His2119Tyr)
c.6342+13C>T (n.6342+13C>T)
c.6409C>T (p.His2137Tyr)
n.7014C>T
c.6418C>T (p.His2140Tyr)
c.6213+1421C>T (n.6213+1421C>T)
17g.18146014A>CCA398606921MYO15Ac.6416A>C (p.His2139Pro)
n.1A>C
c.6356A>C (p.His2119Pro)
c.6342+14A>C (n.6342+14A>C)
c.6410A>C (p.His2137Pro)
n.7015A>C
c.6419A>C (p.His2140Pro)
c.6213+1422A>C (n.6213+1422A>C)
17g.18146014A>GCA398606924MYO15Ac.6416A>G (p.His2139Arg)
n.1A>G
c.6356A>G (p.His2119Arg)
c.6342+14A>G (n.6342+14A>G)
c.6410A>G (p.His2137Arg)
n.7015A>G
c.6419A>G (p.His2140Arg)
c.6213+1422A>G (n.6213+1422A>G)
17g.18146014A>TCA398606925MYO15Ac.6416A>T (p.His2139Leu)
n.1A>T
c.6356A>T (p.His2119Leu)
c.6342+14A>T (n.6342+14A>T)
c.6410A>T (p.His2137Leu)
n.7015A>T
c.6419A>T (p.His2140Leu)
c.6213+1422A>T (n.6213+1422A>T)
17g.18146015C>ACA398606929MYO15Ac.6417C>A (p.His2139Gln)
n.2C>A
c.6357C>A (p.His2119Gln)
c.6342+15C>A (n.6342+15C>A)
c.6411C>A (p.His2137Gln)
n.7016C>A
c.6420C>A (p.His2140Gln)
c.6213+1423C>A (n.6213+1423C>A)
COSMIC
17g.18146015C>GCA398606933MYO15Ac.6417C>G (p.His2139Gln)
n.2C>G
c.6357C>G (p.His2119Gln)
c.6342+15C>G (n.6342+15C>G)
c.6411C>G (p.His2137Gln)
n.7016C>G
c.6420C>G (p.His2140Gln)
c.6213+1423C>G (n.6213+1423C>G)
17g.18146015C>TCA498430507MYO15Ac.6417C>T (p.His2139=)
n.2C>T
c.6357C>T (p.His2119=)
c.6342+15C>T (n.6342+15C>T)
c.6411C>T (p.His2137=)
n.7016C>T
c.6420C>T (p.His2140=)
c.6213+1423C>T (n.6213+1423C>T)
17g.18146016A>CCA398606935MYO15Ac.6418A>C (p.Asn2140His)
n.3A>C
c.6358A>C (p.Asn2120His)
c.6342+16A>C (n.6342+16A>C)
c.6412A>C (p.Asn2138His)
n.7017A>C
c.6421A>C (p.Asn2141His)
c.6213+1424A>C (n.6213+1424A>C)
17g.18146016A>GCA398606940MYO15Ac.6418A>G (p.Asn2140Asp)
n.3A>G
c.6358A>G (p.Asn2120Asp)
c.6342+16A>G (n.6342+16A>G)
c.6412A>G (p.Asn2138Asp)
n.7017A>G
c.6421A>G (p.Asn2141Asp)
c.6213+1424A>G (n.6213+1424A>G)
17g.18146016A>TCA398606943MYO15Ac.6418A>T (p.Asn2140Tyr)
n.3A>T
c.6358A>T (p.Asn2120Tyr)
c.6342+16A>T (n.6342+16A>T)
c.6412A>T (p.Asn2138Tyr)
n.7017A>T
c.6421A>T (p.Asn2141Tyr)
c.6213+1424A>T (n.6213+1424A>T)
17g.18146017A>CCA398606954MYO15Ac.6419A>C (p.Asn2140Thr)
n.4A>C
c.6359A>C (p.Asn2120Thr)
c.6342+17A>C (n.6342+17A>C)
c.6413A>C (p.Asn2138Thr)
n.7018A>C
c.6422A>C (p.Asn2141Thr)
c.6213+1425A>C (n.6213+1425A>C)
17g.18146017A>GCA398606952MYO15Ac.6419A>G (p.Asn2140Ser)
n.4A>G
c.6359A>G (p.Asn2120Ser)
c.6342+17A>G (n.6342+17A>G)
c.6413A>G (p.Asn2138Ser)
n.7018A>G
c.6422A>G (p.Asn2141Ser)
c.6213+1425A>G (n.6213+1425A>G)
17g.18146017A>TCA398606948MYO15Ac.6419A>T (p.Asn2140Ile)
n.4A>T
c.6359A>T (p.Asn2120Ile)
c.6342+17A>T (n.6342+17A>T)
c.6413A>T (p.Asn2138Ile)
n.7018A>T
c.6422A>T (p.Asn2141Ile)
c.6213+1425A>T (n.6213+1425A>T)
17g.18146018T>ACA398606961MYO15Ac.6420T>A (p.Asn2140Lys)
n.5T>A
c.6360T>A (p.Asn2120Lys)
c.6342+18T>A (n.6342+18T>A)
c.6414T>A (p.Asn2138Lys)
n.7019T>A
c.6423T>A (p.Asn2141Lys)
c.6213+1426T>A (n.6213+1426T>A)
dbSNP gnomAD v4
17g.18146018T>CCA498430508MYO15Ac.6420T>C (p.Asn2140=)
n.5T>C
c.6360T>C (p.Asn2120=)
c.6342+18T>C (n.6342+18T>C)
c.6414T>C (p.Asn2138=)
n.7019T>C
c.6423T>C (p.Asn2141=)
c.6213+1426T>C (n.6213+1426T>C)
17g.18146018T>GCA398606958MYO15Ac.6420T>G (p.Asn2140Lys)
n.5T>G
c.6360T>G (p.Asn2120Lys)
c.6342+18T>G (n.6342+18T>G)
c.6414T>G (p.Asn2138Lys)
n.7019T>G
c.6423T>G (p.Asn2141Lys)
c.6213+1426T>G (n.6213+1426T>G)
17g.18146018T=CA2250850352MYO15Ac.6420T= (p.Asn2140=)
n.5T=
c.6360T= (p.Asn2120=)
c.6342+18T= (n.6342+18T=)
c.6414T= (p.Asn2138=)
n.7019T=
c.6423T= (p.Asn2141=)
c.6213+1426T= (n.6213+1426T=)
17g.18146019G>ACA398606963MYO15Ac.6421G>A (p.Ala2141Thr)
n.6G>A
c.6361G>A (p.Ala2121Thr)
c.6342+19G>A (n.6342+19G>A)
c.6415G>A (p.Ala2139Thr)
n.7020G>A
c.6424G>A (p.Ala2142Thr)
c.6213+1427G>A (n.6213+1427G>A)
dbSNP gnomAD v3 gnomAD v4
17g.18146019G>CCA398606966MYO15Ac.6421G>C (p.Ala2141Pro)
n.6G>C
c.6361G>C (p.Ala2121Pro)
c.6342+19G>C (n.6342+19G>C)
c.6415G>C (p.Ala2139Pro)
n.7020G>C
c.6424G>C (p.Ala2142Pro)
c.6213+1427G>C (n.6213+1427G>C)
17g.18146019G=CA2250850353MYO15Ac.6421G= (p.Ala2141=)
n.6G=
c.6361G= (p.Ala2121=)
c.6342+19G= (n.6342+19G=)
c.6415G= (p.Ala2139=)
n.7020G=
c.6424G= (p.Ala2142=)
c.6213+1427G= (n.6213+1427G=)
17g.18146019G>TCA398606969MYO15Ac.6421G>T (p.Ala2141Ser)
n.6G>T
c.6361G>T (p.Ala2121Ser)
c.6342+19G>T (n.6342+19G>T)
c.6415G>T (p.Ala2139Ser)
n.7020G>T
c.6424G>T (p.Ala2142Ser)
c.6213+1427G>T (n.6213+1427G>T)
17g.18146019_18146021delinsCACAATCA645597342MYO15Ac.6421_6423delinsCACAAT (p.Ala2141delinsHisAsn)
n.6_8delinsCACAAT
c.6361_6363delinsCACAAT (p.Ala2121delinsHisAsn)
c.6342+19_6342+21delinsCACAAT (n.6342+19_6342+21delinsCACAAT)
c.6415_6417delinsCACAAT (p.Ala2139delinsHisAsn)
n.7020_7022delinsCACAAT
c.6424_6426delinsCACAAT (p.Ala2142delinsHisAsn)
c.6213+1427_6213+1429delinsCACAAT (n.6213+1427_6213+1429delinsCACAAT)
COSMIC
17g.18146020C>ACA398606973MYO15Ac.6422C>A (p.Ala2141Asp)
n.7C>A
c.6362C>A (p.Ala2121Asp)
c.6342+20C>A (n.6342+20C>A)
c.6416C>A (p.Ala2139Asp)
n.7021C>A
c.6425C>A (p.Ala2142Asp)
c.6213+1428C>A (n.6213+1428C>A)
17g.18146020C=CA2250850354MYO15Ac.6422C= (p.Ala2141=)
n.7C=
c.6362C= (p.Ala2121=)
c.6342+20C= (n.6342+20C=)
c.6416C= (p.Ala2139=)
n.7021C=
c.6425C= (p.Ala2142=)
c.6213+1428C= (n.6213+1428C=)
17g.18146020C>GCA398606976MYO15Ac.6422C>G (p.Ala2141Gly)
n.7C>G
c.6362C>G (p.Ala2121Gly)
c.6342+20C>G (n.6342+20C>G)
c.6416C>G (p.Ala2139Gly)
n.7021C>G
c.6425C>G (p.Ala2142Gly)
c.6213+1428C>G (n.6213+1428C>G)
gnomAD v4
17g.18146020C>TCA398606980MYO15Ac.6422C>T (p.Ala2141Val)
n.7C>T
c.6362C>T (p.Ala2121Val)
c.6342+20C>T (n.6342+20C>T)
c.6416C>T (p.Ala2139Val)
n.7021C>T
c.6425C>T (p.Ala2142Val)
c.6213+1428C>T (n.6213+1428C>T)
dbSNP
17g.18146021C>ACA498430509MYO15Ac.6423C>A (p.Ala2141=)
n.8C>A
c.6363C>A (p.Ala2121=)
c.6342+21C>A (n.6342+21C>A)
c.6417C>A (p.Ala2139=)
n.7022C>A
c.6426C>A (p.Ala2142=)
c.6213+1429C>A (n.6213+1429C>A)
17g.18146021C>GCA498430510MYO15Ac.6423C>G (p.Ala2141=)
n.8C>G
c.6363C>G (p.Ala2121=)
c.6342+21C>G (n.6342+21C>G)
c.6417C>G (p.Ala2139=)
n.7022C>G
c.6426C>G (p.Ala2142=)
c.6213+1429C>G (n.6213+1429C>G)
17g.18146021C>TCA498430511MYO15Ac.6423C>T (p.Ala2141=)
n.8C>T
c.6363C>T (p.Ala2121=)
c.6342+21C>T (n.6342+21C>T)
c.6417C>T (p.Ala2139=)
n.7022C>T
c.6426C>T (p.Ala2142=)
c.6213+1429C>T (n.6213+1429C>T)
17g.18146022C>ACA398606984MYO15Ac.6424C>A (p.His2142Asn)
n.9C>A
c.6364C>A (p.His2122Asn)
c.6342+22C>A (n.6342+22C>A)
c.6418C>A (p.His2140Asn)
n.7023C>A
c.6427C>A (p.His2143Asn)
c.6213+1430C>A (n.6213+1430C>A)
17g.18146022C>GCA398606987MYO15Ac.6424C>G (p.His2142Asp)
n.9C>G
c.6364C>G (p.His2122Asp)
c.6342+22C>G (n.6342+22C>G)
c.6418C>G (p.His2140Asp)
n.7023C>G
c.6427C>G (p.His2143Asp)
c.6213+1430C>G (n.6213+1430C>G)
17g.18146022C>TCA398606989MYO15Ac.6424C>T (p.His2142Tyr)
n.9C>T
c.6364C>T (p.His2122Tyr)
c.6342+22C>T (n.6342+22C>T)
c.6418C>T (p.His2140Tyr)
n.7023C>T
c.6427C>T (p.His2143Tyr)
c.6213+1430C>T (n.6213+1430C>T)
17g.18146023A>CCA398606992MYO15Ac.6425A>C (p.His2142Pro)
n.10A>C
c.6365A>C (p.His2122Pro)
c.6342+23A>C (n.6342+23A>C)
c.6419A>C (p.His2140Pro)
n.7024A>C
c.6428A>C (p.His2143Pro)
c.6213+1431A>C (n.6213+1431A>C)
17g.18146023A>GCA398606995MYO15Ac.6425A>G (p.His2142Arg)
n.10A>G
c.6365A>G (p.His2122Arg)
c.6342+23A>G (n.6342+23A>G)
c.6419A>G (p.His2140Arg)
n.7024A>G
c.6428A>G (p.His2143Arg)
c.6213+1431A>G (n.6213+1431A>G)
17g.18146023A>TCA398606998MYO15Ac.6425A>T (p.His2142Leu)
n.10A>T
c.6365A>T (p.His2122Leu)
c.6342+23A>T (n.6342+23A>T)
c.6419A>T (p.His2140Leu)
n.7024A>T
c.6428A>T (p.His2143Leu)
c.6213+1431A>T (n.6213+1431A>T)
17g.18146024C>ACA398607005MYO15Ac.6426C>A (p.His2142Gln)
n.11C>A
c.6366C>A (p.His2122Gln)
c.6342+24C>A (n.6342+24C>A)
c.6420C>A (p.His2140Gln)
n.7025C>A
c.6429C>A (p.His2143Gln)
c.6213+1432C>A (n.6213+1432C>A)
17g.18146024C>GCA398607002MYO15Ac.6426C>G (p.His2142Gln)
n.11C>G
c.6366C>G (p.His2122Gln)
c.6342+24C>G (n.6342+24C>G)
c.6420C>G (p.His2140Gln)
n.7025C>G
c.6429C>G (p.His2143Gln)
c.6213+1432C>G (n.6213+1432C>G)
17g.18146024C>TCA498430512MYO15Ac.6426C>T (p.His2142=)
n.11C>T
c.6366C>T (p.His2122=)
c.6342+24C>T (n.6342+24C>T)
c.6420C>T (p.His2140=)
n.7025C>T
c.6429C>T (p.His2143=)
c.6213+1432C>T (n.6213+1432C>T)
17g.18146025A>CCA398607007MYO15Ac.6427A>C (p.Asn2143His)
n.12A>C
c.6367A>C (p.Asn2123His)
c.6342+25A>C (n.6342+25A>C)
c.6421A>C (p.Asn2141His)
n.7026A>C
c.6430A>C (p.Asn2144His)
c.6213+1433A>C (n.6213+1433A>C)
17g.18146025A>GCA398607010MYO15Ac.6427A>G (p.Asn2143Asp)
n.12A>G
c.6367A>G (p.Asn2123Asp)
c.6342+25A>G (n.6342+25A>G)
c.6421A>G (p.Asn2141Asp)
n.7026A>G
c.6430A>G (p.Asn2144Asp)
c.6213+1433A>G (n.6213+1433A>G)
gnomAD v4
17g.18146025A>TCA398607012MYO15Ac.6427A>T (p.Asn2143Tyr)
n.12A>T
c.6367A>T (p.Asn2123Tyr)
c.6342+25A>T (n.6342+25A>T)
c.6421A>T (p.Asn2141Tyr)
n.7026A>T
c.6430A>T (p.Asn2144Tyr)
c.6213+1433A>T (n.6213+1433A>T)
17g.18146026A=CA2250850355MYO15Ac.6428A= (p.Asn2143=)
n.13A=
c.6368A= (p.Asn2123=)
c.6342+26A= (n.6342+26A=)
c.6422A= (p.Asn2141=)
n.7027A=
c.6431A= (p.Asn2144=)
c.6213+1434A= (n.6213+1434A=)
17g.18146026A>CCA398607017MYO15Ac.6428A>C (p.Asn2143Thr)
n.13A>C
c.6368A>C (p.Asn2123Thr)
c.6342+26A>C (n.6342+26A>C)
c.6422A>C (p.Asn2141Thr)
n.7027A>C
c.6431A>C (p.Asn2144Thr)
c.6213+1434A>C (n.6213+1434A>C)
17g.18146026A>GCA398607020MYO15Ac.6428A>G (p.Asn2143Ser)
n.13A>G
c.6368A>G (p.Asn2123Ser)
c.6342+26A>G (n.6342+26A>G)
c.6422A>G (p.Asn2141Ser)
n.7027A>G
c.6431A>G (p.Asn2144Ser)
c.6213+1434A>G (n.6213+1434A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.18146026A>TCA398607023MYO15Ac.6428A>T (p.Asn2143Ile)
n.13A>T
c.6368A>T (p.Asn2123Ile)
c.6342+26A>T (n.6342+26A>T)
c.6422A>T (p.Asn2141Ile)
n.7027A>T
c.6431A>T (p.Asn2144Ile)
c.6213+1434A>T (n.6213+1434A>T)
17g.18146027T>ACA398607026MYO15Ac.6429T>A (p.Asn2143Lys)
n.14T>A
c.6369T>A (p.Asn2123Lys)
c.6342+27T>A (n.6342+27T>A)
c.6423T>A (p.Asn2141Lys)
n.7028T>A
c.6432T>A (p.Asn2144Lys)
c.6213+1435T>A (n.6213+1435T>A)
17g.18146027T>CCA498430513MYO15Ac.6429T>C (p.Asn2143=)
n.14T>C
c.6369T>C (p.Asn2123=)
c.6342+27T>C (n.6342+27T>C)
c.6423T>C (p.Asn2141=)
n.7028T>C
c.6432T>C (p.Asn2144=)
c.6213+1435T>C (n.6213+1435T>C)
17g.18146027T>GCA398607028MYO15Ac.6429T>G (p.Asn2143Lys)
n.14T>G
c.6369T>G (p.Asn2123Lys)
c.6342+27T>G (n.6342+27T>G)
c.6423T>G (p.Asn2141Lys)
n.7028T>G
c.6432T>G (p.Asn2144Lys)
c.6213+1435T>G (n.6213+1435T>G)
17g.18146028G>ACA398607030MYO15Ac.6430G>A (p.Ala2144Thr)
n.15G>A
c.6370G>A (p.Ala2124Thr)
c.6342+28G>A (n.6342+28G>A)
c.6424G>A (p.Ala2142Thr)
n.7029G>A
c.6433G>A (p.Ala2145Thr)
c.6213+1436G>A (n.6213+1436G>A)
COSMIC
17g.18146028G>CCA398607034MYO15Ac.6430G>C (p.Ala2144Pro)
n.15G>C
c.6370G>C (p.Ala2124Pro)
c.6342+28G>C (n.6342+28G>C)
c.6424G>C (p.Ala2142Pro)
n.7029G>C
c.6433G>C (p.Ala2145Pro)
c.6213+1436G>C (n.6213+1436G>C)
17g.18146028G>TCA398607037MYO15Ac.6430G>T (p.Ala2144Ser)
n.15G>T
c.6370G>T (p.Ala2124Ser)
c.6342+28G>T (n.6342+28G>T)
c.6424G>T (p.Ala2142Ser)
n.7029G>T
c.6433G>T (p.Ala2145Ser)
c.6213+1436G>T (n.6213+1436G>T)
17g.18146029C>ACA398607040MYO15Ac.6431C>A (p.Ala2144Asp)
n.16C>A
c.6371C>A (p.Ala2124Asp)
c.6342+29C>A (n.6342+29C>A)
c.6425C>A (p.Ala2142Asp)
n.7030C>A
c.6434C>A (p.Ala2145Asp)
c.6213+1437C>A (n.6213+1437C>A)
17g.18146029C>GCA398607044MYO15Ac.6431C>G (p.Ala2144Gly)
n.16C>G
c.6371C>G (p.Ala2124Gly)
c.6342+29C>G (n.6342+29C>G)
c.6425C>G (p.Ala2142Gly)
n.7030C>G
c.6434C>G (p.Ala2145Gly)
c.6213+1437C>G (n.6213+1437C>G)
17g.18146029C>TCA398607046MYO15Ac.6431C>T (p.Ala2144Val)
n.16C>T
c.6371C>T (p.Ala2124Val)
c.6342+29C>T (n.6342+29C>T)
c.6425C>T (p.Ala2142Val)
n.7030C>T
c.6434C>T (p.Ala2145Val)
c.6213+1437C>T (n.6213+1437C>T)
17g.18146030T>ACA498430514MYO15Ac.6432T>A (p.Ala2144=)
n.17T>A
c.6372T>A (p.Ala2124=)
c.6342+30T>A (n.6342+30T>A)
c.6426T>A (p.Ala2142=)
n.7031T>A
c.6435T>A (p.Ala2145=)
c.6213+1438T>A (n.6213+1438T>A)
17g.18146030T>CCA498430515MYO15Ac.6432T>C (p.Ala2144=)
n.17T>C
c.6372T>C (p.Ala2124=)
c.6342+30T>C (n.6342+30T>C)
c.6426T>C (p.Ala2142=)
n.7031T>C
c.6435T>C (p.Ala2145=)
c.6213+1438T>C (n.6213+1438T>C)
17g.18146030T>GCA498430516MYO15Ac.6432T>G (p.Ala2144=)
n.17T>G
c.6372T>G (p.Ala2124=)
c.6342+30T>G (n.6342+30T>G)
c.6426T>G (p.Ala2142=)
n.7031T>G
c.6435T>G (p.Ala2145=)
c.6213+1438T>G (n.6213+1438T>G)
17g.18146031G>ACA398607053MYO15Ac.6433G>A (p.Glu2145Lys)
n.18G>A
c.6373G>A (p.Glu2125Lys)
c.6342+31G>A (n.6342+31G>A)
c.6427G>A (p.Glu2143Lys)
n.7032G>A
c.6436G>A (p.Glu2146Lys)
c.6213+1439G>A (n.6213+1439G>A)
dbSNP gnomAD v4
17g.18146031G>CCA398607056MYO15Ac.6433G>C (p.Glu2145Gln)
n.18G>C
c.6373G>C (p.Glu2125Gln)
c.6342+31G>C (n.6342+31G>C)
c.6427G>C (p.Glu2143Gln)
n.7032G>C
c.6436G>C (p.Glu2146Gln)
c.6213+1439G>C (n.6213+1439G>C)
17g.18146031G=CA2250850356MYO15Ac.6433G= (p.Glu2145=)
n.18G=
c.6373G= (p.Glu2125=)
c.6342+31G= (n.6342+31G=)
c.6427G= (p.Glu2143=)
n.7032G=
c.6436G= (p.Glu2146=)
c.6213+1439G= (n.6213+1439G=)
17g.18146031G>TCA398607052MYO15Ac.6433G>T (p.Glu2145Ter)
n.18G>T
c.6373G>T (p.Glu2125Ter)
c.6342+31G>T (n.6342+31G>T)
c.6427G>T (p.Glu2143Ter)
n.7032G>T
c.6436G>T (p.Glu2146Ter)
c.6213+1439G>T (n.6213+1439G>T)
17g.18146032A>CCA398607058MYO15Ac.6434A>C (p.Glu2145Ala)
n.19A>C
c.6374A>C (p.Glu2125Ala)
c.6342+32A>C (n.6342+32A>C)
c.6428A>C (p.Glu2143Ala)
n.7033A>C
c.6437A>C (p.Glu2146Ala)
c.6213+1440A>C (n.6213+1440A>C)
17g.18146032A>GCA398607064MYO15Ac.6434A>G (p.Glu2145Gly)
n.19A>G
c.6374A>G (p.Glu2125Gly)
c.6342+32A>G (n.6342+32A>G)
c.6428A>G (p.Glu2143Gly)
n.7033A>G
c.6437A>G (p.Glu2146Gly)
c.6213+1440A>G (n.6213+1440A>G)
17g.18146032A>TCA398607061MYO15Ac.6434A>T (p.Glu2145Val)
n.19A>T
c.6374A>T (p.Glu2125Val)
c.6342+32A>T (n.6342+32A>T)
c.6428A>T (p.Glu2143Val)
n.7033A>T
c.6437A>T (p.Glu2146Val)
c.6213+1440A>T (n.6213+1440A>T)
17g.18146033G>ACA498430517MYO15Ac.6435G>A (p.Glu2145=)
n.20G>A
c.6375G>A (p.Glu2125=)
c.6342+33G>A (n.6342+33G>A)
c.6429G>A (p.Glu2143=)
n.7034G>A
c.6438G>A (p.Glu2146=)
c.6213+1441G>A (n.6213+1441G>A)
COSMIC
17g.18146033G>CCA398607066MYO15Ac.6435G>C (p.Glu2145Asp)
n.20G>C
c.6375G>C (p.Glu2125Asp)
c.6342+33G>C (n.6342+33G>C)
c.6429G>C (p.Glu2143Asp)
n.7034G>C
c.6438G>C (p.Glu2146Asp)
c.6213+1441G>C (n.6213+1441G>C)
dbSNP gnomAD v3 gnomAD v4
17g.18146033G=CA2250850357MYO15Ac.6435G= (p.Glu2145=)
n.20G=
c.6375G= (p.Glu2125=)
c.6342+33G= (n.6342+33G=)
c.6429G= (p.Glu2143=)
n.7034G=
c.6438G= (p.Glu2146=)
c.6213+1441G= (n.6213+1441G=)
17g.18146033G>TCA398607070MYO15Ac.6435G>T (p.Glu2145Asp)
n.20G>T
c.6375G>T (p.Glu2125Asp)
c.6342+33G>T (n.6342+33G>T)
c.6429G>T (p.Glu2143Asp)
n.7034G>T
c.6438G>T (p.Glu2146Asp)
c.6213+1441G>T (n.6213+1441G>T)
17g.18146034C>ACA288407485MYO15Ac.6436C>A (p.Arg2146=)
n.21C>A
c.6376C>A (p.Arg2126=)
c.6342+34C>A (n.6342+34C>A)
c.6430C>A (p.Arg2144=)
n.7035C>A
c.6439C>A (p.Arg2147=)
c.6213+1442C>A (n.6213+1442C>A)
dbSNP
17g.18146034C=CA2250850358MYO15Ac.6436C= (p.Arg2146=)
n.21C=
c.6376C= (p.Arg2126=)
c.6342+34C= (n.6342+34C=)
c.6430C= (p.Arg2144=)
n.7035C=
c.6439C= (p.Arg2147=)
c.6213+1442C= (n.6213+1442C=)
17g.18146034C>GCA398607073MYO15Ac.6436C>G (p.Arg2146Gly)
n.21C>G
c.6376C>G (p.Arg2126Gly)
c.6342+34C>G (n.6342+34C>G)
c.6430C>G (p.Arg2144Gly)
n.7035C>G
c.6439C>G (p.Arg2147Gly)
c.6213+1442C>G (n.6213+1442C>G)
dbSNP gnomAD v3 gnomAD v4
17g.18146034C>TCA8424587MYO15Ac.6436C>T (p.Arg2146Trp)
n.21C>T
c.6376C>T (p.Arg2126Trp)
c.6342+34C>T (n.6342+34C>T)
c.6430C>T (p.Arg2144Trp)
n.7035C>T
c.6439C>T (p.Arg2147Trp)
c.6213+1442C>T (n.6213+1442C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.18146035G>ACA8424588MYO15Ac.6437G>A (p.Arg2146Gln)
n.22G>A
c.6377G>A (p.Arg2126Gln)
c.6342+35G>A (n.6342+35G>A)
c.6431G>A (p.Arg2144Gln)
n.7036G>A
c.6440G>A (p.Arg2147Gln)
c.6213+1443G>A (n.6213+1443G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.18146035G>CCA398607080MYO15Ac.6437G>C (p.Arg2146Pro)
n.22G>C
c.6377G>C (p.Arg2126Pro)
c.6342+35G>C (n.6342+35G>C)
c.6431G>C (p.Arg2144Pro)
n.7036G>C
c.6440G>C (p.Arg2147Pro)
c.6213+1443G>C (n.6213+1443G>C)
17g.18146035G=CA2250850359MYO15Ac.6437G= (p.Arg2146=)
n.22G=
c.6377G= (p.Arg2126=)
c.6342+35G= (n.6342+35G=)
c.6431G= (p.Arg2144=)
n.7036G=
c.6440G= (p.Arg2147=)
c.6213+1443G= (n.6213+1443G=)
17g.18146035G>TCA398607082MYO15Ac.6437G>T (p.Arg2146Leu)
n.22G>T
c.6377G>T (p.Arg2126Leu)
c.6342+35G>T (n.6342+35G>T)
c.6431G>T (p.Arg2144Leu)
n.7036G>T
c.6440G>T (p.Arg2147Leu)
c.6213+1443G>T (n.6213+1443G>T)
17g.18146038dupCA658798728MYO15Ac.6440dup (p.Trp2148LeufsTer27)
n.25dup
c.6380dup (p.Trp2128LeufsTer27)
c.6342+38dup (n.6342+38dup)
c.6434dup (p.Trp2146LeufsTer27)
n.7039dup
c.6443dup (p.Trp2149LeufsTer27)
c.6213+1446dup (n.6213+1446dup)
ClinVar dbSNP

Number of alleles fetched