Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74695690C=CA2275146954CD300LF,RAB37c.717+35G= (n.717+35G=)
c.*28+35G= (n.*28+35G=)
c.72+24032C= (n.72+24032C=)
c.613+35G= (n.613+35G=)
c.748+35G= (n.748+35G=)
n.479+24032C=
c.*92+35G= (n.*92+35G=)
c.726+35G= (n.726+35G=)
c.762+35G= (n.762+35G=)
n.889+35G=
c.849+35G= (n.849+35G=)
c.840+35G= (n.840+35G=)
c.804+35G= (n.804+35G=)
c.795+35G= (n.795+35G=)
c.771+35G= (n.771+35G=)
c.774+35G= (n.774+35G=)
n.812+35G=
17g.74695690C>TCA986273717CD300LF,RAB37c.717+35G>A (n.717+35G>A)
c.*28+35G>A (n.*28+35G>A)
c.72+24032C>T (n.72+24032C>T)
c.613+35G>A (n.613+35G>A)
c.748+35G>A (n.748+35G>A)
n.479+24032C>T
c.*92+35G>A (n.*92+35G>A)
c.726+35G>A (n.726+35G>A)
c.762+35G>A (n.762+35G>A)
n.889+35G>A
c.849+35G>A (n.849+35G>A)
c.840+35G>A (n.840+35G>A)
c.804+35G>A (n.804+35G>A)
c.795+35G>A (n.795+35G>A)
c.771+35G>A (n.771+35G>A)
c.774+35G>A (n.774+35G>A)
n.812+35G>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695692C=CA2275146955CD300LF,RAB37c.717+33G= (n.717+33G=)
c.*28+33G= (n.*28+33G=)
c.72+24034C= (n.72+24034C=)
c.613+33G= (n.613+33G=)
c.748+33G= (n.748+33G=)
n.479+24034C=
c.*92+33G= (n.*92+33G=)
c.726+33G= (n.726+33G=)
c.762+33G= (n.762+33G=)
n.889+33G=
c.849+33G= (n.849+33G=)
c.840+33G= (n.840+33G=)
c.804+33G= (n.804+33G=)
c.795+33G= (n.795+33G=)
c.771+33G= (n.771+33G=)
c.774+33G= (n.774+33G=)
n.812+33G=
17g.74695692C>GCA2639711887CD300LF,RAB37c.717+33G>C (n.717+33G>C)
c.*28+33G>C (n.*28+33G>C)
c.72+24034C>G (n.72+24034C>G)
c.613+33G>C (n.613+33G>C)
c.748+33G>C (n.748+33G>C)
n.479+24034C>G
c.*92+33G>C (n.*92+33G>C)
c.726+33G>C (n.726+33G>C)
c.762+33G>C (n.762+33G>C)
n.889+33G>C
c.849+33G>C (n.849+33G>C)
c.840+33G>C (n.840+33G>C)
c.804+33G>C (n.804+33G>C)
c.795+33G>C (n.795+33G>C)
c.771+33G>C (n.771+33G>C)
c.774+33G>C (n.774+33G>C)
n.812+33G>C
 gnomAD v4
17g.74695692C>TCA627364173CD300LF,RAB37c.717+33G>A (n.717+33G>A)
c.*28+33G>A (n.*28+33G>A)
c.72+24034C>T (n.72+24034C>T)
c.613+33G>A (n.613+33G>A)
c.748+33G>A (n.748+33G>A)
n.479+24034C>T
c.*92+33G>A (n.*92+33G>A)
c.726+33G>A (n.726+33G>A)
c.762+33G>A (n.762+33G>A)
n.889+33G>A
c.849+33G>A (n.849+33G>A)
c.840+33G>A (n.840+33G>A)
c.804+33G>A (n.804+33G>A)
c.795+33G>A (n.795+33G>A)
c.771+33G>A (n.771+33G>A)
c.774+33G>A (n.774+33G>A)
n.812+33G>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695693C>ACA2810416960CD300LF,RAB37c.717+32G>T (n.717+32G>T)
c.*28+32G>T (n.*28+32G>T)
c.72+24035C>A (n.72+24035C>A)
c.613+32G>T (n.613+32G>T)
c.748+32G>T (n.748+32G>T)
n.479+24035C>A
c.*92+32G>T (n.*92+32G>T)
c.726+32G>T (n.726+32G>T)
c.762+32G>T (n.762+32G>T)
n.889+32G>T
c.849+32G>T (n.849+32G>T)
c.840+32G>T (n.840+32G>T)
c.804+32G>T (n.804+32G>T)
c.795+32G>T (n.795+32G>T)
c.771+32G>T (n.771+32G>T)
c.774+32G>T (n.774+32G>T)
n.812+32G>T
17g.74695693C>TCA2576380759CD300LF,RAB37c.717+32G>A (n.717+32G>A)
c.*28+32G>A (n.*28+32G>A)
c.72+24035C>T (n.72+24035C>T)
c.613+32G>A (n.613+32G>A)
c.748+32G>A (n.748+32G>A)
n.479+24035C>T
c.*92+32G>A (n.*92+32G>A)
c.726+32G>A (n.726+32G>A)
c.762+32G>A (n.762+32G>A)
n.889+32G>A
c.849+32G>A (n.849+32G>A)
c.840+32G>A (n.840+32G>A)
c.804+32G>A (n.804+32G>A)
c.795+32G>A (n.795+32G>A)
c.771+32G>A (n.771+32G>A)
c.774+32G>A (n.774+32G>A)
n.812+32G>A
 gnomAD v4
17g.74695694A>CCA2576380760CD300LF,RAB37c.717+31T>G (n.717+31T>G)
c.*28+31T>G (n.*28+31T>G)
c.72+24036A>C (n.72+24036A>C)
c.613+31T>G (n.613+31T>G)
c.748+31T>G (n.748+31T>G)
n.479+24036A>C
c.*92+31T>G (n.*92+31T>G)
c.726+31T>G (n.726+31T>G)
c.762+31T>G (n.762+31T>G)
n.889+31T>G
c.849+31T>G (n.849+31T>G)
c.840+31T>G (n.840+31T>G)
c.804+31T>G (n.804+31T>G)
c.795+31T>G (n.795+31T>G)
c.771+31T>G (n.771+31T>G)
c.774+31T>G (n.774+31T>G)
n.812+31T>G
17g.74695695G=CA2275146956CD300LF,RAB37c.717+30C= (n.717+30C=)
c.*28+30C= (n.*28+30C=)
c.72+24037G= (n.72+24037G=)
c.613+30C= (n.613+30C=)
c.748+30C= (n.748+30C=)
n.479+24037G=
c.*92+30C= (n.*92+30C=)
c.726+30C= (n.726+30C=)
c.762+30C= (n.762+30C=)
n.889+30C=
c.849+30C= (n.849+30C=)
c.840+30C= (n.840+30C=)
c.804+30C= (n.804+30C=)
c.795+30C= (n.795+30C=)
c.771+30C= (n.771+30C=)
c.774+30C= (n.774+30C=)
n.812+30C=
17g.74695695G>TCA986273720CD300LF,RAB37c.717+30C>A (n.717+30C>A)
c.*28+30C>A (n.*28+30C>A)
c.72+24037G>T (n.72+24037G>T)
c.613+30C>A (n.613+30C>A)
c.748+30C>A (n.748+30C>A)
n.479+24037G>T
c.*92+30C>A (n.*92+30C>A)
c.726+30C>A (n.726+30C>A)
c.762+30C>A (n.762+30C>A)
n.889+30C>A
c.849+30C>A (n.849+30C>A)
c.840+30C>A (n.840+30C>A)
c.804+30C>A (n.804+30C>A)
c.795+30C>A (n.795+30C>A)
c.771+30C>A (n.771+30C>A)
c.774+30C>A (n.774+30C>A)
n.812+30C>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695696C=CA2275146957CD300LF,RAB37c.717+29G= (n.717+29G=)
c.*28+29G= (n.*28+29G=)
c.72+24038C= (n.72+24038C=)
c.613+29G= (n.613+29G=)
c.748+29G= (n.748+29G=)
n.479+24038C=
c.*92+29G= (n.*92+29G=)
c.726+29G= (n.726+29G=)
c.762+29G= (n.762+29G=)
n.889+29G=
c.849+29G= (n.849+29G=)
c.840+29G= (n.840+29G=)
c.804+29G= (n.804+29G=)
c.795+29G= (n.795+29G=)
c.771+29G= (n.771+29G=)
c.774+29G= (n.774+29G=)
n.812+29G=
17g.74695696C>TCA627364174CD300LF,RAB37c.717+29G>A (n.717+29G>A)
c.*28+29G>A (n.*28+29G>A)
c.72+24038C>T (n.72+24038C>T)
c.613+29G>A (n.613+29G>A)
c.748+29G>A (n.748+29G>A)
n.479+24038C>T
c.*92+29G>A (n.*92+29G>A)
c.726+29G>A (n.726+29G>A)
c.762+29G>A (n.762+29G>A)
n.889+29G>A
c.849+29G>A (n.849+29G>A)
c.840+29G>A (n.840+29G>A)
c.804+29G>A (n.804+29G>A)
c.795+29G>A (n.795+29G>A)
c.771+29G>A (n.771+29G>A)
c.774+29G>A (n.774+29G>A)
n.812+29G>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695701C=CA2275146958CD300LF,RAB37c.717+24G= (n.717+24G=)
c.*28+24G= (n.*28+24G=)
c.72+24043C= (n.72+24043C=)
c.613+24G= (n.613+24G=)
c.748+24G= (n.748+24G=)
n.479+24043C=
c.*92+24G= (n.*92+24G=)
c.726+24G= (n.726+24G=)
c.762+24G= (n.762+24G=)
n.889+24G=
c.849+24G= (n.849+24G=)
c.840+24G= (n.840+24G=)
c.804+24G= (n.804+24G=)
c.795+24G= (n.795+24G=)
c.771+24G= (n.771+24G=)
c.774+24G= (n.774+24G=)
n.812+24G=
17g.74695701C>TCA293928368CD300LF,RAB37c.717+24G>A (n.717+24G>A)
c.*28+24G>A (n.*28+24G>A)
c.72+24043C>T (n.72+24043C>T)
c.613+24G>A (n.613+24G>A)
c.748+24G>A (n.748+24G>A)
n.479+24043C>T
c.*92+24G>A (n.*92+24G>A)
c.726+24G>A (n.726+24G>A)
c.762+24G>A (n.762+24G>A)
n.889+24G>A
c.849+24G>A (n.849+24G>A)
c.840+24G>A (n.840+24G>A)
c.804+24G>A (n.804+24G>A)
c.795+24G>A (n.795+24G>A)
c.771+24G>A (n.771+24G>A)
c.774+24G>A (n.774+24G>A)
n.812+24G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695702A=CA2275146959CD300LF,RAB37c.717+23T= (n.717+23T=)
c.*28+23T= (n.*28+23T=)
c.72+24044A= (n.72+24044A=)
c.613+23T= (n.613+23T=)
c.748+23T= (n.748+23T=)
n.479+24044A=
c.*92+23T= (n.*92+23T=)
c.726+23T= (n.726+23T=)
c.762+23T= (n.762+23T=)
n.889+23T=
c.849+23T= (n.849+23T=)
c.840+23T= (n.840+23T=)
c.804+23T= (n.804+23T=)
c.795+23T= (n.795+23T=)
c.771+23T= (n.771+23T=)
c.774+23T= (n.774+23T=)
n.812+23T=
17g.74695702A>GCA8749739CD300LF,RAB37c.717+23T>C (n.717+23T>C)
c.*28+23T>C (n.*28+23T>C)
c.72+24044A>G (n.72+24044A>G)
c.613+23T>C (n.613+23T>C)
c.748+23T>C (n.748+23T>C)
n.479+24044A>G
c.*92+23T>C (n.*92+23T>C)
c.726+23T>C (n.726+23T>C)
c.762+23T>C (n.762+23T>C)
n.889+23T>C
c.849+23T>C (n.849+23T>C)
c.840+23T>C (n.840+23T>C)
c.804+23T>C (n.804+23T>C)
c.795+23T>C (n.795+23T>C)
c.771+23T>C (n.771+23T>C)
c.774+23T>C (n.774+23T>C)
n.812+23T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695702A>TCA8749740CD300LF,RAB37c.717+23T>A (n.717+23T>A)
c.*28+23T>A (n.*28+23T>A)
c.72+24044A>T (n.72+24044A>T)
c.613+23T>A (n.613+23T>A)
c.748+23T>A (n.748+23T>A)
n.479+24044A>T
c.*92+23T>A (n.*92+23T>A)
c.726+23T>A (n.726+23T>A)
c.762+23T>A (n.762+23T>A)
n.889+23T>A
c.849+23T>A (n.849+23T>A)
c.840+23T>A (n.840+23T>A)
c.804+23T>A (n.804+23T>A)
c.795+23T>A (n.795+23T>A)
c.771+23T>A (n.771+23T>A)
c.774+23T>A (n.774+23T>A)
n.812+23T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695703G>ACA8749741CD300LF,RAB37c.717+22C>T (n.717+22C>T)
c.*28+22C>T (n.*28+22C>T)
c.72+24045G>A (n.72+24045G>A)
c.613+22C>T (n.613+22C>T)
c.748+22C>T (n.748+22C>T)
n.479+24045G>A
c.*92+22C>T (n.*92+22C>T)
c.726+22C>T (n.726+22C>T)
c.762+22C>T (n.762+22C>T)
n.889+22C>T
c.849+22C>T (n.849+22C>T)
c.840+22C>T (n.840+22C>T)
c.804+22C>T (n.804+22C>T)
c.795+22C>T (n.795+22C>T)
c.771+22C>T (n.771+22C>T)
c.774+22C>T (n.774+22C>T)
n.812+22C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695703G=CA2275146960CD300LF,RAB37c.717+22C= (n.717+22C=)
c.*28+22C= (n.*28+22C=)
c.72+24045G= (n.72+24045G=)
c.613+22C= (n.613+22C=)
c.748+22C= (n.748+22C=)
n.479+24045G=
c.*92+22C= (n.*92+22C=)
c.726+22C= (n.726+22C=)
c.762+22C= (n.762+22C=)
n.889+22C=
c.849+22C= (n.849+22C=)
c.840+22C= (n.840+22C=)
c.804+22C= (n.804+22C=)
c.795+22C= (n.795+22C=)
c.771+22C= (n.771+22C=)
c.774+22C= (n.774+22C=)
n.812+22C=
17g.74695704C=CA2275146961CD300LF,RAB37c.717+21G= (n.717+21G=)
c.*28+21G= (n.*28+21G=)
c.72+24046C= (n.72+24046C=)
c.613+21G= (n.613+21G=)
c.748+21G= (n.748+21G=)
n.479+24046C=
c.*92+21G= (n.*92+21G=)
c.726+21G= (n.726+21G=)
c.762+21G= (n.762+21G=)
n.889+21G=
c.849+21G= (n.849+21G=)
c.840+21G= (n.840+21G=)
c.804+21G= (n.804+21G=)
c.795+21G= (n.795+21G=)
c.771+21G= (n.771+21G=)
c.774+21G= (n.774+21G=)
n.812+21G=
17g.74695704C>TCA774985218CD300LF,RAB37c.717+21G>A (n.717+21G>A)
c.*28+21G>A (n.*28+21G>A)
c.72+24046C>T (n.72+24046C>T)
c.613+21G>A (n.613+21G>A)
c.748+21G>A (n.748+21G>A)
n.479+24046C>T
c.*92+21G>A (n.*92+21G>A)
c.726+21G>A (n.726+21G>A)
c.762+21G>A (n.762+21G>A)
n.889+21G>A
c.849+21G>A (n.849+21G>A)
c.840+21G>A (n.840+21G>A)
c.804+21G>A (n.804+21G>A)
c.795+21G>A (n.795+21G>A)
c.771+21G>A (n.771+21G>A)
c.774+21G>A (n.774+21G>A)
n.812+21G>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695707C>ACA2275146963CD300LF,RAB37c.717+18G>T (n.717+18G>T)
c.*28+18G>T (n.*28+18G>T)
c.72+24049C>A (n.72+24049C>A)
c.613+18G>T (n.613+18G>T)
c.748+18G>T (n.748+18G>T)
n.479+24049C>A
c.*92+18G>T (n.*92+18G>T)
c.726+18G>T (n.726+18G>T)
c.762+18G>T (n.762+18G>T)
n.889+18G>T
c.849+18G>T (n.849+18G>T)
c.840+18G>T (n.840+18G>T)
c.804+18G>T (n.804+18G>T)
c.795+18G>T (n.795+18G>T)
c.771+18G>T (n.771+18G>T)
c.774+18G>T (n.774+18G>T)
n.812+18G>T
 dbSNP
17g.74695707C=CA2275146962CD300LF,RAB37c.717+18G= (n.717+18G=)
c.*28+18G= (n.*28+18G=)
c.72+24049C= (n.72+24049C=)
c.613+18G= (n.613+18G=)
c.748+18G= (n.748+18G=)
n.479+24049C=
c.*92+18G= (n.*92+18G=)
c.726+18G= (n.726+18G=)
c.762+18G= (n.762+18G=)
n.889+18G=
c.849+18G= (n.849+18G=)
c.840+18G= (n.840+18G=)
c.804+18G= (n.804+18G=)
c.795+18G= (n.795+18G=)
c.771+18G= (n.771+18G=)
c.774+18G= (n.774+18G=)
n.812+18G=
17g.74695711delCA2576380761CD300LF,RAB37c.717+18del (n.717+18del)
c.*28+18del (n.*28+18del)
c.72+24053del (n.72+24053del)
c.613+18del (n.613+18del)
c.748+18del (n.748+18del)
n.479+24053del
c.*92+18del (n.*92+18del)
c.726+18del (n.726+18del)
c.762+18del (n.762+18del)
n.889+18del
c.849+18del (n.849+18del)
c.840+18del (n.840+18del)
c.804+18del (n.804+18del)
c.795+18del (n.795+18del)
c.771+18del (n.771+18del)
c.774+18del (n.774+18del)
n.812+18del
17g.74695709C>ACA8749742CD300LF,RAB37c.717+16G>T (n.717+16G>T)
c.*28+16G>T (n.*28+16G>T)
c.72+24051C>A (n.72+24051C>A)
c.613+16G>T (n.613+16G>T)
c.748+16G>T (n.748+16G>T)
n.479+24051C>A
c.*92+16G>T (n.*92+16G>T)
c.726+16G>T (n.726+16G>T)
c.762+16G>T (n.762+16G>T)
n.889+16G>T
c.849+16G>T (n.849+16G>T)
c.840+16G>T (n.840+16G>T)
c.804+16G>T (n.804+16G>T)
c.795+16G>T (n.795+16G>T)
c.771+16G>T (n.771+16G>T)
c.774+16G>T (n.774+16G>T)
n.812+16G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695709C=CA2275146964CD300LF,RAB37c.717+16G= (n.717+16G=)
c.*28+16G= (n.*28+16G=)
c.72+24051C= (n.72+24051C=)
c.613+16G= (n.613+16G=)
c.748+16G= (n.748+16G=)
n.479+24051C=
c.*92+16G= (n.*92+16G=)
c.726+16G= (n.726+16G=)
c.762+16G= (n.762+16G=)
n.889+16G=
c.849+16G= (n.849+16G=)
c.840+16G= (n.840+16G=)
c.804+16G= (n.804+16G=)
c.795+16G= (n.795+16G=)
c.771+16G= (n.771+16G=)
c.774+16G= (n.774+16G=)
n.812+16G=
17g.74695709C>TCA627364186CD300LF,RAB37c.717+16G>A (n.717+16G>A)
c.*28+16G>A (n.*28+16G>A)
c.72+24051C>T (n.72+24051C>T)
c.613+16G>A (n.613+16G>A)
c.748+16G>A (n.748+16G>A)
n.479+24051C>T
c.*92+16G>A (n.*92+16G>A)
c.726+16G>A (n.726+16G>A)
c.762+16G>A (n.762+16G>A)
n.889+16G>A
c.849+16G>A (n.849+16G>A)
c.840+16G>A (n.840+16G>A)
c.804+16G>A (n.804+16G>A)
c.795+16G>A (n.795+16G>A)
c.771+16G>A (n.771+16G>A)
c.774+16G>A (n.774+16G>A)
n.812+16G>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695710C=CA2275146965CD300LF,RAB37c.717+15G= (n.717+15G=)
c.*28+15G= (n.*28+15G=)
c.72+24052C= (n.72+24052C=)
c.613+15G= (n.613+15G=)
c.748+15G= (n.748+15G=)
n.479+24052C=
c.*92+15G= (n.*92+15G=)
c.726+15G= (n.726+15G=)
c.762+15G= (n.762+15G=)
n.889+15G=
c.849+15G= (n.849+15G=)
c.840+15G= (n.840+15G=)
c.804+15G= (n.804+15G=)
c.795+15G= (n.795+15G=)
c.771+15G= (n.771+15G=)
c.774+15G= (n.774+15G=)
n.812+15G=
17g.74695710C>TCA8749743CD300LF,RAB37c.717+15G>A (n.717+15G>A)
c.*28+15G>A (n.*28+15G>A)
c.72+24052C>T (n.72+24052C>T)
c.613+15G>A (n.613+15G>A)
c.748+15G>A (n.748+15G>A)
n.479+24052C>T
c.*92+15G>A (n.*92+15G>A)
c.726+15G>A (n.726+15G>A)
c.762+15G>A (n.762+15G>A)
n.889+15G>A
c.849+15G>A (n.849+15G>A)
c.840+15G>A (n.840+15G>A)
c.804+15G>A (n.804+15G>A)
c.795+15G>A (n.795+15G>A)
c.771+15G>A (n.771+15G>A)
c.774+15G>A (n.774+15G>A)
n.812+15G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695711C>ACA986273725CD300LF,RAB37c.717+14G>T (n.717+14G>T)
c.*28+14G>T (n.*28+14G>T)
c.72+24053C>A (n.72+24053C>A)
c.613+14G>T (n.613+14G>T)
c.748+14G>T (n.748+14G>T)
n.479+24053C>A
c.*92+14G>T (n.*92+14G>T)
c.726+14G>T (n.726+14G>T)
c.762+14G>T (n.762+14G>T)
n.889+14G>T
c.849+14G>T (n.849+14G>T)
c.840+14G>T (n.840+14G>T)
c.804+14G>T (n.804+14G>T)
c.795+14G>T (n.795+14G>T)
c.771+14G>T (n.771+14G>T)
c.774+14G>T (n.774+14G>T)
n.812+14G>T
 dbSNP gnomAD v3 gnomAD v4
17g.74695711C=CA2275146966CD300LF,RAB37c.717+14G= (n.717+14G=)
c.*28+14G= (n.*28+14G=)
c.72+24053C= (n.72+24053C=)
c.613+14G= (n.613+14G=)
c.748+14G= (n.748+14G=)
n.479+24053C=
c.*92+14G= (n.*92+14G=)
c.726+14G= (n.726+14G=)
c.762+14G= (n.762+14G=)
n.889+14G=
c.849+14G= (n.849+14G=)
c.840+14G= (n.840+14G=)
c.804+14G= (n.804+14G=)
c.795+14G= (n.795+14G=)
c.771+14G= (n.771+14G=)
c.774+14G= (n.774+14G=)
n.812+14G=
17g.74695711C>GCA2275146967CD300LF,RAB37c.717+14G>C (n.717+14G>C)
c.*28+14G>C (n.*28+14G>C)
c.72+24053C>G (n.72+24053C>G)
c.613+14G>C (n.613+14G>C)
c.748+14G>C (n.748+14G>C)
n.479+24053C>G
c.*92+14G>C (n.*92+14G>C)
c.726+14G>C (n.726+14G>C)
c.762+14G>C (n.762+14G>C)
n.889+14G>C
c.849+14G>C (n.849+14G>C)
c.840+14G>C (n.840+14G>C)
c.804+14G>C (n.804+14G>C)
c.795+14G>C (n.795+14G>C)
c.771+14G>C (n.771+14G>C)
c.774+14G>C (n.774+14G>C)
n.812+14G>C
 dbSNP
17g.74695712A=CA2275146968CD300LF,RAB37c.717+13T= (n.717+13T=)
c.*28+13T= (n.*28+13T=)
c.72+24054A= (n.72+24054A=)
c.613+13T= (n.613+13T=)
c.748+13T= (n.748+13T=)
n.479+24054A=
c.*92+13T= (n.*92+13T=)
c.726+13T= (n.726+13T=)
c.762+13T= (n.762+13T=)
n.889+13T=
c.849+13T= (n.849+13T=)
c.840+13T= (n.840+13T=)
c.804+13T= (n.804+13T=)
c.795+13T= (n.795+13T=)
c.771+13T= (n.771+13T=)
c.774+13T= (n.774+13T=)
n.812+13T=
17g.74695712A>GCA2275146969CD300LF,RAB37c.717+13T>C (n.717+13T>C)
c.*28+13T>C (n.*28+13T>C)
c.72+24054A>G (n.72+24054A>G)
c.613+13T>C (n.613+13T>C)
c.748+13T>C (n.748+13T>C)
n.479+24054A>G
c.*92+13T>C (n.*92+13T>C)
c.726+13T>C (n.726+13T>C)
c.762+13T>C (n.762+13T>C)
n.889+13T>C
c.849+13T>C (n.849+13T>C)
c.840+13T>C (n.840+13T>C)
c.804+13T>C (n.804+13T>C)
c.795+13T>C (n.795+13T>C)
c.771+13T>C (n.771+13T>C)
c.774+13T>C (n.774+13T>C)
n.812+13T>C
 dbSNP gnomAD v4
17g.74695713T>CCA627364189CD300LF,RAB37c.717+12A>G (n.717+12A>G)
c.*28+12A>G (n.*28+12A>G)
c.72+24055T>C (n.72+24055T>C)
c.613+12A>G (n.613+12A>G)
c.748+12A>G (n.748+12A>G)
n.479+24055T>C
c.*92+12A>G (n.*92+12A>G)
c.726+12A>G (n.726+12A>G)
c.762+12A>G (n.762+12A>G)
n.889+12A>G
c.849+12A>G (n.849+12A>G)
c.840+12A>G (n.840+12A>G)
c.804+12A>G (n.804+12A>G)
c.795+12A>G (n.795+12A>G)
c.771+12A>G (n.771+12A>G)
c.774+12A>G (n.774+12A>G)
n.812+12A>G
 dbSNP gnomAD v2 gnomAD v4
17g.74695713T=CA2275146970CD300LF,RAB37c.717+12A= (n.717+12A=)
c.*28+12A= (n.*28+12A=)
c.72+24055T= (n.72+24055T=)
c.613+12A= (n.613+12A=)
c.748+12A= (n.748+12A=)
n.479+24055T=
c.*92+12A= (n.*92+12A=)
c.726+12A= (n.726+12A=)
c.762+12A= (n.762+12A=)
n.889+12A=
c.849+12A= (n.849+12A=)
c.840+12A= (n.840+12A=)
c.804+12A= (n.804+12A=)
c.795+12A= (n.795+12A=)
c.771+12A= (n.771+12A=)
c.774+12A= (n.774+12A=)
n.812+12A=
17g.74695714G>ACA2639711888CD300LF,RAB37c.717+11C>T (n.717+11C>T)
c.*28+11C>T (n.*28+11C>T)
c.72+24056G>A (n.72+24056G>A)
c.613+11C>T (n.613+11C>T)
c.748+11C>T (n.748+11C>T)
n.479+24056G>A
c.*92+11C>T (n.*92+11C>T)
c.726+11C>T (n.726+11C>T)
c.762+11C>T (n.762+11C>T)
n.889+11C>T
c.849+11C>T (n.849+11C>T)
c.840+11C>T (n.840+11C>T)
c.804+11C>T (n.804+11C>T)
c.795+11C>T (n.795+11C>T)
c.771+11C>T (n.771+11C>T)
c.774+11C>T (n.774+11C>T)
n.812+11C>T
 gnomAD v4
17g.74695715G>ACA2639711889CD300LF,RAB37c.717+10C>T (n.717+10C>T)
c.*28+10C>T (n.*28+10C>T)
c.72+24057G>A (n.72+24057G>A)
c.613+10C>T (n.613+10C>T)
c.748+10C>T (n.748+10C>T)
n.479+24057G>A
c.*92+10C>T (n.*92+10C>T)
c.726+10C>T (n.726+10C>T)
c.762+10C>T (n.762+10C>T)
n.889+10C>T
c.849+10C>T (n.849+10C>T)
c.840+10C>T (n.840+10C>T)
c.804+10C>T (n.804+10C>T)
c.795+10C>T (n.795+10C>T)
c.771+10C>T (n.771+10C>T)
c.774+10C>T (n.774+10C>T)
n.812+10C>T
 gnomAD v4
17g.74695715G>CCA8749744CD300LF,RAB37c.717+10C>G (n.717+10C>G)
c.*28+10C>G (n.*28+10C>G)
c.72+24057G>C (n.72+24057G>C)
c.613+10C>G (n.613+10C>G)
c.748+10C>G (n.748+10C>G)
n.479+24057G>C
c.*92+10C>G (n.*92+10C>G)
c.726+10C>G (n.726+10C>G)
c.762+10C>G (n.762+10C>G)
n.889+10C>G
c.849+10C>G (n.849+10C>G)
c.840+10C>G (n.840+10C>G)
c.804+10C>G (n.804+10C>G)
c.795+10C>G (n.795+10C>G)
c.771+10C>G (n.771+10C>G)
c.774+10C>G (n.774+10C>G)
n.812+10C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695715G=CA2275146971CD300LF,RAB37c.717+10C= (n.717+10C=)
c.*28+10C= (n.*28+10C=)
c.72+24057G= (n.72+24057G=)
c.613+10C= (n.613+10C=)
c.748+10C= (n.748+10C=)
n.479+24057G=
c.*92+10C= (n.*92+10C=)
c.726+10C= (n.726+10C=)
c.762+10C= (n.762+10C=)
n.889+10C=
c.849+10C= (n.849+10C=)
c.840+10C= (n.840+10C=)
c.804+10C= (n.804+10C=)
c.795+10C= (n.795+10C=)
c.771+10C= (n.771+10C=)
c.774+10C= (n.774+10C=)
n.812+10C=
17g.74695715G>TCA8749745CD300LF,RAB37c.717+10C>A (n.717+10C>A)
c.*28+10C>A (n.*28+10C>A)
c.72+24057G>T (n.72+24057G>T)
c.613+10C>A (n.613+10C>A)
c.748+10C>A (n.748+10C>A)
n.479+24057G>T
c.*92+10C>A (n.*92+10C>A)
c.726+10C>A (n.726+10C>A)
c.762+10C>A (n.762+10C>A)
n.889+10C>A
c.849+10C>A (n.849+10C>A)
c.840+10C>A (n.840+10C>A)
c.804+10C>A (n.804+10C>A)
c.795+10C>A (n.795+10C>A)
c.771+10C>A (n.771+10C>A)
c.774+10C>A (n.774+10C>A)
n.812+10C>A
 dbSNP ExAC
17g.74695716A=CA2275146972CD300LF,RAB37c.717+9T= (n.717+9T=)
c.*28+9T= (n.*28+9T=)
c.72+24058A= (n.72+24058A=)
c.613+9T= (n.613+9T=)
c.748+9T= (n.748+9T=)
n.479+24058A=
c.*92+9T= (n.*92+9T=)
c.726+9T= (n.726+9T=)
c.762+9T= (n.762+9T=)
n.889+9T=
c.849+9T= (n.849+9T=)
c.840+9T= (n.840+9T=)
c.804+9T= (n.804+9T=)
c.795+9T= (n.795+9T=)
c.771+9T= (n.771+9T=)
c.774+9T= (n.774+9T=)
n.812+9T=
17g.74695716A>GCA627364196CD300LF,RAB37c.717+9T>C (n.717+9T>C)
c.*28+9T>C (n.*28+9T>C)
c.72+24058A>G (n.72+24058A>G)
c.613+9T>C (n.613+9T>C)
c.748+9T>C (n.748+9T>C)
n.479+24058A>G
c.*92+9T>C (n.*92+9T>C)
c.726+9T>C (n.726+9T>C)
c.762+9T>C (n.762+9T>C)
n.889+9T>C
c.849+9T>C (n.849+9T>C)
c.840+9T>C (n.840+9T>C)
c.804+9T>C (n.804+9T>C)
c.795+9T>C (n.795+9T>C)
c.771+9T>C (n.771+9T>C)
c.774+9T>C (n.774+9T>C)
n.812+9T>C
 dbSNP gnomAD v2 gnomAD v4
17g.74695717G>ACA2275146974CD300LF,RAB37c.717+8C>T (n.717+8C>T)
c.*28+8C>T (n.*28+8C>T)
c.72+24059G>A (n.72+24059G>A)
c.613+8C>T (n.613+8C>T)
c.748+8C>T (n.748+8C>T)
n.479+24059G>A
c.*92+8C>T (n.*92+8C>T)
c.726+8C>T (n.726+8C>T)
c.762+8C>T (n.762+8C>T)
n.889+8C>T
c.849+8C>T (n.849+8C>T)
c.840+8C>T (n.840+8C>T)
c.804+8C>T (n.804+8C>T)
c.795+8C>T (n.795+8C>T)
c.771+8C>T (n.771+8C>T)
c.774+8C>T (n.774+8C>T)
n.812+8C>T
 dbSNP
17g.74695717G=CA2275146973CD300LF,RAB37c.717+8C= (n.717+8C=)
c.*28+8C= (n.*28+8C=)
c.72+24059G= (n.72+24059G=)
c.613+8C= (n.613+8C=)
c.748+8C= (n.748+8C=)
n.479+24059G=
c.*92+8C= (n.*92+8C=)
c.726+8C= (n.726+8C=)
c.762+8C= (n.762+8C=)
n.889+8C=
c.849+8C= (n.849+8C=)
c.840+8C= (n.840+8C=)
c.804+8C= (n.804+8C=)
c.795+8C= (n.795+8C=)
c.771+8C= (n.771+8C=)
c.774+8C= (n.774+8C=)
n.812+8C=
17g.74695718G>ACA8749746CD300LF,RAB37c.717+7C>T (n.717+7C>T)
c.*28+7C>T (n.*28+7C>T)
c.72+24060G>A (n.72+24060G>A)
c.613+7C>T (n.613+7C>T)
c.748+7C>T (n.748+7C>T)
n.479+24060G>A
c.*92+7C>T (n.*92+7C>T)
c.726+7C>T (n.726+7C>T)
c.762+7C>T (n.762+7C>T)
n.889+7C>T
c.849+7C>T (n.849+7C>T)
c.840+7C>T (n.840+7C>T)
c.804+7C>T (n.804+7C>T)
c.795+7C>T (n.795+7C>T)
c.771+7C>T (n.771+7C>T)
c.774+7C>T (n.774+7C>T)
n.812+7C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695718G=CA2275146975CD300LF,RAB37c.717+7C= (n.717+7C=)
c.*28+7C= (n.*28+7C=)
c.72+24060G= (n.72+24060G=)
c.613+7C= (n.613+7C=)
c.748+7C= (n.748+7C=)
n.479+24060G=
c.*92+7C= (n.*92+7C=)
c.726+7C= (n.726+7C=)
c.762+7C= (n.762+7C=)
n.889+7C=
c.849+7C= (n.849+7C=)
c.840+7C= (n.840+7C=)
c.804+7C= (n.804+7C=)
c.795+7C= (n.795+7C=)
c.771+7C= (n.771+7C=)
c.774+7C= (n.774+7C=)
n.812+7C=
17g.74695718G>TCA2639711890CD300LF,RAB37c.717+7C>A (n.717+7C>A)
c.*28+7C>A (n.*28+7C>A)
c.72+24060G>T (n.72+24060G>T)
c.613+7C>A (n.613+7C>A)
c.748+7C>A (n.748+7C>A)
n.479+24060G>T
c.*92+7C>A (n.*92+7C>A)
c.726+7C>A (n.726+7C>A)
c.762+7C>A (n.762+7C>A)
n.889+7C>A
c.849+7C>A (n.849+7C>A)
c.840+7C>A (n.840+7C>A)
c.804+7C>A (n.804+7C>A)
c.795+7C>A (n.795+7C>A)
c.771+7C>A (n.771+7C>A)
c.774+7C>A (n.774+7C>A)
n.812+7C>A
 gnomAD v4
17g.74695719A>GCA2639711891CD300LF,RAB37c.717+6T>C (n.717+6T>C)
c.*28+6T>C (n.*28+6T>C)
c.72+24061A>G (n.72+24061A>G)
c.613+6T>C (n.613+6T>C)
c.748+6T>C (n.748+6T>C)
n.479+24061A>G
c.*92+6T>C (n.*92+6T>C)
c.726+6T>C (n.726+6T>C)
c.762+6T>C (n.762+6T>C)
n.889+6T>C
c.849+6T>C (n.849+6T>C)
c.840+6T>C (n.840+6T>C)
c.804+6T>C (n.804+6T>C)
c.795+6T>C (n.795+6T>C)
c.771+6T>C (n.771+6T>C)
c.774+6T>C (n.774+6T>C)
n.812+6T>C
 gnomAD v4
17g.74695720C>ACA8749748CD300LF,RAB37c.717+5G>T (n.717+5G>T)
c.*28+5G>T (n.*28+5G>T)
c.72+24062C>A (n.72+24062C>A)
c.613+5G>T (n.613+5G>T)
c.748+5G>T (n.748+5G>T)
n.479+24062C>A
c.*92+5G>T (n.*92+5G>T)
c.726+5G>T (n.726+5G>T)
c.762+5G>T (n.762+5G>T)
n.889+5G>T
c.849+5G>T (n.849+5G>T)
c.840+5G>T (n.840+5G>T)
c.804+5G>T (n.804+5G>T)
c.795+5G>T (n.795+5G>T)
c.771+5G>T (n.771+5G>T)
c.774+5G>T (n.774+5G>T)
n.812+5G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695720C=CA2275146976CD300LF,RAB37c.717+5G= (n.717+5G=)
c.*28+5G= (n.*28+5G=)
c.72+24062C= (n.72+24062C=)
c.613+5G= (n.613+5G=)
c.748+5G= (n.748+5G=)
n.479+24062C=
c.*92+5G= (n.*92+5G=)
c.726+5G= (n.726+5G=)
c.762+5G= (n.762+5G=)
n.889+5G=
c.849+5G= (n.849+5G=)
c.840+5G= (n.840+5G=)
c.804+5G= (n.804+5G=)
c.795+5G= (n.795+5G=)
c.771+5G= (n.771+5G=)
c.774+5G= (n.774+5G=)
n.812+5G=
17g.74695720C>GCA2639711892CD300LF,RAB37c.717+5G>C (n.717+5G>C)
c.*28+5G>C (n.*28+5G>C)
c.72+24062C>G (n.72+24062C>G)
c.613+5G>C (n.613+5G>C)
c.748+5G>C (n.748+5G>C)
n.479+24062C>G
c.*92+5G>C (n.*92+5G>C)
c.726+5G>C (n.726+5G>C)
c.762+5G>C (n.762+5G>C)
n.889+5G>C
c.849+5G>C (n.849+5G>C)
c.840+5G>C (n.840+5G>C)
c.804+5G>C (n.804+5G>C)
c.795+5G>C (n.795+5G>C)
c.771+5G>C (n.771+5G>C)
c.774+5G>C (n.774+5G>C)
n.812+5G>C
 gnomAD v4
17g.74695720C>TCA8749747CD300LF,RAB37c.717+5G>A (n.717+5G>A)
c.*28+5G>A (n.*28+5G>A)
c.72+24062C>T (n.72+24062C>T)
c.613+5G>A (n.613+5G>A)
c.748+5G>A (n.748+5G>A)
n.479+24062C>T
c.*92+5G>A (n.*92+5G>A)
c.726+5G>A (n.726+5G>A)
c.762+5G>A (n.762+5G>A)
n.889+5G>A
c.849+5G>A (n.849+5G>A)
c.840+5G>A (n.840+5G>A)
c.804+5G>A (n.804+5G>A)
c.795+5G>A (n.795+5G>A)
c.771+5G>A (n.771+5G>A)
c.774+5G>A (n.774+5G>A)
n.812+5G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695721G>ACA627364213CD300LF,RAB37c.717+4C>T (n.717+4C>T)
c.*28+4C>T (n.*28+4C>T)
c.72+24063G>A (n.72+24063G>A)
c.613+4C>T (n.613+4C>T)
c.748+4C>T (n.748+4C>T)
n.479+24063G>A
c.*92+4C>T (n.*92+4C>T)
c.726+4C>T (n.726+4C>T)
c.762+4C>T (n.762+4C>T)
n.889+4C>T
c.849+4C>T (n.849+4C>T)
c.840+4C>T (n.840+4C>T)
c.804+4C>T (n.804+4C>T)
c.795+4C>T (n.795+4C>T)
c.771+4C>T (n.771+4C>T)
c.774+4C>T (n.774+4C>T)
n.812+4C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695721G=CA2275146977CD300LF,RAB37c.717+4C= (n.717+4C=)
c.*28+4C= (n.*28+4C=)
c.72+24063G= (n.72+24063G=)
c.613+4C= (n.613+4C=)
c.748+4C= (n.748+4C=)
n.479+24063G=
c.*92+4C= (n.*92+4C=)
c.726+4C= (n.726+4C=)
c.762+4C= (n.762+4C=)
n.889+4C=
c.849+4C= (n.849+4C=)
c.840+4C= (n.840+4C=)
c.804+4C= (n.804+4C=)
c.795+4C= (n.795+4C=)
c.771+4C= (n.771+4C=)
c.774+4C= (n.774+4C=)
n.812+4C=
17g.74695721G>TCA2639711893CD300LF,RAB37c.717+4C>A (n.717+4C>A)
c.*28+4C>A (n.*28+4C>A)
c.72+24063G>T (n.72+24063G>T)
c.613+4C>A (n.613+4C>A)
c.748+4C>A (n.748+4C>A)
n.479+24063G>T
c.*92+4C>A (n.*92+4C>A)
c.726+4C>A (n.726+4C>A)
c.762+4C>A (n.762+4C>A)
n.889+4C>A
c.849+4C>A (n.849+4C>A)
c.840+4C>A (n.840+4C>A)
c.804+4C>A (n.804+4C>A)
c.795+4C>A (n.795+4C>A)
c.771+4C>A (n.771+4C>A)
c.774+4C>A (n.774+4C>A)
n.812+4C>A
 gnomAD v4
17g.74695722C>TCA2576380762CD300LF,RAB37c.717+3G>A (n.717+3G>A)
c.*28+3G>A (n.*28+3G>A)
c.72+24064C>T (n.72+24064C>T)
c.613+3G>A (n.613+3G>A)
c.748+3G>A (n.748+3G>A)
n.479+24064C>T
c.*92+3G>A (n.*92+3G>A)
c.726+3G>A (n.726+3G>A)
c.762+3G>A (n.762+3G>A)
n.889+3G>A
c.849+3G>A (n.849+3G>A)
c.840+3G>A (n.840+3G>A)
c.804+3G>A (n.804+3G>A)
c.795+3G>A (n.795+3G>A)
c.771+3G>A (n.771+3G>A)
c.774+3G>A (n.774+3G>A)
n.812+3G>A
 gnomAD v4
17g.74695723A>CCA400934856CD300LF,RAB37c.717+2T>G (n.717+2T>G)
c.*28+2T>G (n.*28+2T>G)
c.72+24065A>C (n.72+24065A>C)
c.613+2T>G (n.613+2T>G)
c.748+2T>G (n.748+2T>G)
n.479+24065A>C
c.*92+2T>G (n.*92+2T>G)
c.726+2T>G (n.726+2T>G)
c.762+2T>G (n.762+2T>G)
n.889+2T>G
c.849+2T>G (n.849+2T>G)
c.840+2T>G (n.840+2T>G)
c.804+2T>G (n.804+2T>G)
c.795+2T>G (n.795+2T>G)
c.771+2T>G (n.771+2T>G)
c.774+2T>G (n.774+2T>G)
n.812+2T>G
17g.74695723A>GCA400934858CD300LF,RAB37c.717+2T>C (n.717+2T>C)
c.*28+2T>C (n.*28+2T>C)
c.72+24065A>G (n.72+24065A>G)
c.613+2T>C (n.613+2T>C)
c.748+2T>C (n.748+2T>C)
n.479+24065A>G
c.*92+2T>C (n.*92+2T>C)
c.726+2T>C (n.726+2T>C)
c.762+2T>C (n.762+2T>C)
n.889+2T>C
c.849+2T>C (n.849+2T>C)
c.840+2T>C (n.840+2T>C)
c.804+2T>C (n.804+2T>C)
c.795+2T>C (n.795+2T>C)
c.771+2T>C (n.771+2T>C)
c.774+2T>C (n.774+2T>C)
n.812+2T>C
 gnomAD v4
17g.74695723A>TCA400934860CD300LF,RAB37c.717+2T>A (n.717+2T>A)
c.*28+2T>A (n.*28+2T>A)
c.72+24065A>T (n.72+24065A>T)
c.613+2T>A (n.613+2T>A)
c.748+2T>A (n.748+2T>A)
n.479+24065A>T
c.*92+2T>A (n.*92+2T>A)
c.726+2T>A (n.726+2T>A)
c.762+2T>A (n.762+2T>A)
n.889+2T>A
c.849+2T>A (n.849+2T>A)
c.840+2T>A (n.840+2T>A)
c.804+2T>A (n.804+2T>A)
c.795+2T>A (n.795+2T>A)
c.771+2T>A (n.771+2T>A)
c.774+2T>A (n.774+2T>A)
n.812+2T>A
17g.74695724C>ACA400934861CD300LF,RAB37c.717+1G>T (n.717+1G>T)
c.*28+1G>T (n.*28+1G>T)
c.72+24066C>A (n.72+24066C>A)
c.613+1G>T (n.613+1G>T)
c.748+1G>T (n.748+1G>T)
n.479+24066C>A
c.*92+1G>T (n.*92+1G>T)
c.726+1G>T (n.726+1G>T)
c.762+1G>T (n.762+1G>T)
n.889+1G>T
c.849+1G>T (n.849+1G>T)
c.840+1G>T (n.840+1G>T)
c.804+1G>T (n.804+1G>T)
c.795+1G>T (n.795+1G>T)
c.771+1G>T (n.771+1G>T)
c.774+1G>T (n.774+1G>T)
n.812+1G>T
17g.74695724C>GCA400934862CD300LF,RAB37c.717+1G>C (n.717+1G>C)
c.*28+1G>C (n.*28+1G>C)
c.72+24066C>G (n.72+24066C>G)
c.613+1G>C (n.613+1G>C)
c.748+1G>C (n.748+1G>C)
n.479+24066C>G
c.*92+1G>C (n.*92+1G>C)
c.726+1G>C (n.726+1G>C)
c.762+1G>C (n.762+1G>C)
n.889+1G>C
c.849+1G>C (n.849+1G>C)
c.840+1G>C (n.840+1G>C)
c.804+1G>C (n.804+1G>C)
c.795+1G>C (n.795+1G>C)
c.771+1G>C (n.771+1G>C)
c.774+1G>C (n.774+1G>C)
n.812+1G>C
17g.74695724C>TCA400934864CD300LF,RAB37c.717+1G>A (n.717+1G>A)
c.*28+1G>A (n.*28+1G>A)
c.72+24066C>T (n.72+24066C>T)
c.613+1G>A (n.613+1G>A)
c.748+1G>A (n.748+1G>A)
n.479+24066C>T
c.*92+1G>A (n.*92+1G>A)
c.726+1G>A (n.726+1G>A)
c.762+1G>A (n.762+1G>A)
n.889+1G>A
c.849+1G>A (n.849+1G>A)
c.840+1G>A (n.840+1G>A)
c.804+1G>A (n.804+1G>A)
c.795+1G>A (n.795+1G>A)
c.771+1G>A (n.771+1G>A)
c.774+1G>A (n.774+1G>A)
n.812+1G>A
17g.74695725C>ACA400934866CD300LF,RAB37c.717G>T (p.Met239Ile)
c.*28G>T (n.*28G>T)
c.72+24067C>A (n.72+24067C>A)
c.613G>T (n.613G>T)
c.748G>T (n.748G>T)
n.479+24067C>A
c.*92G>T (n.*92G>T)
c.726G>T (p.Met242Ile)
c.762G>T (p.Met254Ile)
n.889G>T
c.849G>T (p.Met283Ile)
c.840G>T (p.Met280Ile)
c.804G>T (p.Met268Ile)
c.795G>T (p.Met265Ile)
c.771G>T (p.Met257Ile)
c.774G>T (p.Met258Ile)
n.812G>T
17g.74695725C=CA2275146978CD300LF,RAB37c.717G= (p.Met239=)
c.*28G= (n.*28G=)
c.72+24067C= (n.72+24067C=)
c.613G= (n.613G=)
c.748G= (n.748G=)
n.479+24067C=
c.*92G= (n.*92G=)
c.726G= (p.Met242=)
c.762G= (p.Met254=)
n.889G=
c.849G= (p.Met283=)
c.840G= (p.Met280=)
c.804G= (p.Met268=)
c.795G= (p.Met265=)
c.771G= (p.Met257=)
c.774G= (p.Met258=)
n.812G=
17g.74695725C>GCA400934868CD300LF,RAB37c.717G>C (p.Met239Ile)
c.*28G>C (n.*28G>C)
c.72+24067C>G (n.72+24067C>G)
c.613G>C (n.613G>C)
c.748G>C (n.748G>C)
n.479+24067C>G
c.*92G>C (n.*92G>C)
c.726G>C (p.Met242Ile)
c.762G>C (p.Met254Ile)
n.889G>C
c.849G>C (p.Met283Ile)
c.840G>C (p.Met280Ile)
c.804G>C (p.Met268Ile)
c.795G>C (p.Met265Ile)
c.771G>C (p.Met257Ile)
c.774G>C (p.Met258Ile)
n.812G>C
17g.74695725C>TCA400934869CD300LF,RAB37c.717G>A (p.Met239Ile)
c.*28G>A (n.*28G>A)
c.72+24067C>T (n.72+24067C>T)
c.613G>A (n.613G>A)
c.748G>A (n.748G>A)
n.479+24067C>T
c.*92G>A (n.*92G>A)
c.726G>A (p.Met242Ile)
c.762G>A (p.Met254Ile)
n.889G>A
c.849G>A (p.Met283Ile)
c.840G>A (p.Met280Ile)
c.804G>A (p.Met268Ile)
c.795G>A (p.Met265Ile)
c.771G>A (p.Met257Ile)
c.774G>A (p.Met258Ile)
n.812G>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695726A=CA2275146979CD300LF,RAB37c.716T= (p.Met239=)
c.*27T= (n.*27T=)
c.72+24068A= (n.72+24068A=)
c.612T= (n.612T=)
c.747T= (n.747T=)
n.479+24068A=
c.*91T= (n.*91T=)
c.725T= (p.Met242=)
c.761T= (p.Met254=)
n.888T=
c.848T= (p.Met283=)
c.839T= (p.Met280=)
c.803T= (p.Met268=)
c.794T= (p.Met265=)
c.770T= (p.Met257=)
c.773T= (p.Met258=)
n.811T=
17g.74695726A>CCA400934871CD300LF,RAB37c.716T>G (p.Met239Arg)
c.*27T>G (n.*27T>G)
c.72+24068A>C (n.72+24068A>C)
c.612T>G (n.612T>G)
c.747T>G (n.747T>G)
n.479+24068A>C
c.*91T>G (n.*91T>G)
c.725T>G (p.Met242Arg)
c.761T>G (p.Met254Arg)
n.888T>G
c.848T>G (p.Met283Arg)
c.839T>G (p.Met280Arg)
c.803T>G (p.Met268Arg)
c.794T>G (p.Met265Arg)
c.770T>G (p.Met257Arg)
c.773T>G (p.Met258Arg)
n.811T>G
17g.74695726A>GCA8749749CD300LF,RAB37c.716T>C (p.Met239Thr)
c.*27T>C (n.*27T>C)
c.72+24068A>G (n.72+24068A>G)
c.612T>C (n.612T>C)
c.747T>C (n.747T>C)
n.479+24068A>G
c.*91T>C (n.*91T>C)
c.725T>C (p.Met242Thr)
c.761T>C (p.Met254Thr)
n.888T>C
c.848T>C (p.Met283Thr)
c.839T>C (p.Met280Thr)
c.803T>C (p.Met268Thr)
c.794T>C (p.Met265Thr)
c.770T>C (p.Met257Thr)
c.773T>C (p.Met258Thr)
n.811T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695726A>TCA400934873CD300LF,RAB37c.716T>A (p.Met239Lys)
c.*27T>A (n.*27T>A)
c.72+24068A>T (n.72+24068A>T)
c.612T>A (n.612T>A)
c.747T>A (n.747T>A)
n.479+24068A>T
c.*91T>A (n.*91T>A)
c.725T>A (p.Met242Lys)
c.761T>A (p.Met254Lys)
n.888T>A
c.848T>A (p.Met283Lys)
c.839T>A (p.Met280Lys)
c.803T>A (p.Met268Lys)
c.794T>A (p.Met265Lys)
c.770T>A (p.Met257Lys)
c.773T>A (p.Met258Lys)
n.811T>A
17g.74695727T>ACA400934878CD300LF,RAB37c.715A>T (p.Met239Leu)
c.*26A>T (n.*26A>T)
c.72+24069T>A (n.72+24069T>A)
c.611A>T (n.611A>T)
c.746A>T (n.746A>T)
n.479+24069T>A
c.*90A>T (n.*90A>T)
c.724A>T (p.Met242Leu)
c.760A>T (p.Met254Leu)
n.887A>T
c.847A>T (p.Met283Leu)
c.838A>T (p.Met280Leu)
c.802A>T (p.Met268Leu)
c.793A>T (p.Met265Leu)
c.769A>T (p.Met257Leu)
c.772A>T (p.Met258Leu)
n.810A>T
 dbSNP gnomAD v3 gnomAD v4
17g.74695727T>CCA400934875CD300LF,RAB37c.715A>G (p.Met239Val)
c.*26A>G (n.*26A>G)
c.72+24069T>C (n.72+24069T>C)
c.611A>G (n.611A>G)
c.746A>G (n.746A>G)
n.479+24069T>C
c.*90A>G (n.*90A>G)
c.724A>G (p.Met242Val)
c.760A>G (p.Met254Val)
n.887A>G
c.847A>G (p.Met283Val)
c.838A>G (p.Met280Val)
c.802A>G (p.Met268Val)
c.793A>G (p.Met265Val)
c.769A>G (p.Met257Val)
c.772A>G (p.Met258Val)
n.810A>G
17g.74695727T>GCA400934876CD300LF,RAB37c.715A>C (p.Met239Leu)
c.*26A>C (n.*26A>C)
c.72+24069T>G (n.72+24069T>G)
c.611A>C (n.611A>C)
c.746A>C (n.746A>C)
n.479+24069T>G
c.*90A>C (n.*90A>C)
c.724A>C (p.Met242Leu)
c.760A>C (p.Met254Leu)
n.887A>C
c.847A>C (p.Met283Leu)
c.838A>C (p.Met280Leu)
c.802A>C (p.Met268Leu)
c.793A>C (p.Met265Leu)
c.769A>C (p.Met257Leu)
c.772A>C (p.Met258Leu)
n.810A>C
 dbSNP
17g.74695727T=CA2275146980CD300LF,RAB37c.715A= (p.Met239=)
c.*26A= (n.*26A=)
c.72+24069T= (n.72+24069T=)
c.611A= (n.611A=)
c.746A= (n.746A=)
n.479+24069T=
c.*90A= (n.*90A=)
c.724A= (p.Met242=)
c.760A= (p.Met254=)
n.887A=
c.847A= (p.Met283=)
c.838A= (p.Met280=)
c.802A= (p.Met268=)
c.793A= (p.Met265=)
c.769A= (p.Met257=)
c.772A= (p.Met258=)
n.810A=
17g.74695728G>ACA501745330CD300LF,RAB37c.714C>T (p.Thr238=)
c.*25C>T (n.*25C>T)
c.72+24070G>A (n.72+24070G>A)
c.610C>T (n.610C>T)
c.745C>T (n.745C>T)
n.479+24070G>A
c.*89C>T (n.*89C>T)
c.723C>T (p.Thr241=)
c.759C>T (p.Thr253=)
n.886C>T
c.846C>T (p.Thr282=)
c.837C>T (p.Thr279=)
c.801C>T (p.Thr267=)
c.792C>T (p.Thr264=)
c.768C>T (p.Thr256=)
c.771C>T (p.Thr257=)
n.809C>T
17g.74695728G>CCA501745328CD300LF,RAB37c.714C>G (p.Thr238=)
c.*25C>G (n.*25C>G)
c.72+24070G>C (n.72+24070G>C)
c.610C>G (n.610C>G)
c.745C>G (n.745C>G)
n.479+24070G>C
c.*89C>G (n.*89C>G)
c.723C>G (p.Thr241=)
c.759C>G (p.Thr253=)
n.886C>G
c.846C>G (p.Thr282=)
c.837C>G (p.Thr279=)
c.801C>G (p.Thr267=)
c.792C>G (p.Thr264=)
c.768C>G (p.Thr256=)
c.771C>G (p.Thr257=)
n.809C>G
17g.74695728G>TCA501745329CD300LF,RAB37c.714C>A (p.Thr238=)
c.*25C>A (n.*25C>A)
c.72+24070G>T (n.72+24070G>T)
c.610C>A (n.610C>A)
c.745C>A (n.745C>A)
n.479+24070G>T
c.*89C>A (n.*89C>A)
c.723C>A (p.Thr241=)
c.759C>A (p.Thr253=)
n.886C>A
c.846C>A (p.Thr282=)
c.837C>A (p.Thr279=)
c.801C>A (p.Thr267=)
c.792C>A (p.Thr264=)
c.768C>A (p.Thr256=)
c.771C>A (p.Thr257=)
n.809C>A
17g.74695729G>ACA400934879CD300LF,RAB37c.713C>T (p.Thr238Ile)
c.*24C>T (n.*24C>T)
c.72+24071G>A (n.72+24071G>A)
c.609C>T (n.609C>T)
c.744C>T (n.744C>T)
n.479+24071G>A
c.*88C>T (n.*88C>T)
c.722C>T (p.Thr241Ile)
c.758C>T (p.Thr253Ile)
n.885C>T
c.845C>T (p.Thr282Ile)
c.836C>T (p.Thr279Ile)
c.800C>T (p.Thr267Ile)
c.791C>T (p.Thr264Ile)
c.767C>T (p.Thr256Ile)
c.770C>T (p.Thr257Ile)
n.808C>T
 gnomAD v4
17g.74695729G>CCA400934880CD300LF,RAB37c.713C>G (p.Thr238Ser)
c.*24C>G (n.*24C>G)
c.72+24071G>C (n.72+24071G>C)
c.609C>G (n.609C>G)
c.744C>G (n.744C>G)
n.479+24071G>C
c.*88C>G (n.*88C>G)
c.722C>G (p.Thr241Ser)
c.758C>G (p.Thr253Ser)
n.885C>G
c.845C>G (p.Thr282Ser)
c.836C>G (p.Thr279Ser)
c.800C>G (p.Thr267Ser)
c.791C>G (p.Thr264Ser)
c.767C>G (p.Thr256Ser)
c.770C>G (p.Thr257Ser)
n.808C>G
17g.74695729G>TCA400934881CD300LF,RAB37c.713C>A (p.Thr238Asn)
c.*24C>A (n.*24C>A)
c.72+24071G>T (n.72+24071G>T)
c.609C>A (n.609C>A)
c.744C>A (n.744C>A)
n.479+24071G>T
c.*88C>A (n.*88C>A)
c.722C>A (p.Thr241Asn)
c.758C>A (p.Thr253Asn)
n.885C>A
c.845C>A (p.Thr282Asn)
c.836C>A (p.Thr279Asn)
c.800C>A (p.Thr267Asn)
c.791C>A (p.Thr264Asn)
c.767C>A (p.Thr256Asn)
c.770C>A (p.Thr257Asn)
n.808C>A
17g.74695730T>ACA400934883CD300LF,RAB37c.712A>T (p.Thr238Ser)
c.*23A>T (n.*23A>T)
c.72+24072T>A (n.72+24072T>A)
c.608A>T (n.608A>T)
c.743A>T (n.743A>T)
n.479+24072T>A
c.*87A>T (n.*87A>T)
c.721A>T (p.Thr241Ser)
c.757A>T (p.Thr253Ser)
n.884A>T
c.844A>T (p.Thr282Ser)
c.835A>T (p.Thr279Ser)
c.799A>T (p.Thr267Ser)
c.790A>T (p.Thr264Ser)
c.766A>T (p.Thr256Ser)
c.769A>T (p.Thr257Ser)
n.807A>T
17g.74695730T>CCA400934885CD300LF,RAB37c.712A>G (p.Thr238Ala)
c.*23A>G (n.*23A>G)
c.72+24072T>C (n.72+24072T>C)
c.608A>G (n.608A>G)
c.743A>G (n.743A>G)
n.479+24072T>C
c.*87A>G (n.*87A>G)
c.721A>G (p.Thr241Ala)
c.757A>G (p.Thr253Ala)
n.884A>G
c.844A>G (p.Thr282Ala)
c.835A>G (p.Thr279Ala)
c.799A>G (p.Thr267Ala)
c.790A>G (p.Thr264Ala)
c.766A>G (p.Thr256Ala)
c.769A>G (p.Thr257Ala)
n.807A>G
 dbSNP
17g.74695730T>GCA400934886CD300LF,RAB37c.712A>C (p.Thr238Pro)
c.*23A>C (n.*23A>C)
c.72+24072T>G (n.72+24072T>G)
c.608A>C (n.608A>C)
c.743A>C (n.743A>C)
n.479+24072T>G
c.*87A>C (n.*87A>C)
c.721A>C (p.Thr241Pro)
c.757A>C (p.Thr253Pro)
n.884A>C
c.844A>C (p.Thr282Pro)
c.835A>C (p.Thr279Pro)
c.799A>C (p.Thr267Pro)
c.790A>C (p.Thr264Pro)
c.766A>C (p.Thr256Pro)
c.769A>C (p.Thr257Pro)
n.807A>C
17g.74695730T=CA2275146981CD300LF,RAB37c.712A= (p.Thr238=)
c.*23A= (n.*23A=)
c.72+24072T= (n.72+24072T=)
c.608A= (n.608A=)
c.743A= (n.743A=)
n.479+24072T=
c.*87A= (n.*87A=)
c.721A= (p.Thr241=)
c.757A= (p.Thr253=)
n.884A=
c.844A= (p.Thr282=)
c.835A= (p.Thr279=)
c.799A= (p.Thr267=)
c.790A= (p.Thr264=)
c.766A= (p.Thr256=)
c.769A= (p.Thr257=)
n.807A=
17g.74695731G>ACA501745331CD300LF,RAB37c.711C>T (p.Val237=)
c.*22C>T (n.*22C>T)
c.72+24073G>A (n.72+24073G>A)
c.607C>T (n.607C>T)
c.742C>T (n.742C>T)
n.479+24073G>A
c.*86C>T (n.*86C>T)
c.720C>T (p.Val240=)
c.756C>T (p.Val252=)
n.883C>T
c.843C>T (p.Val281=)
c.834C>T (p.Val278=)
c.798C>T (p.Val266=)
c.789C>T (p.Val263=)
c.765C>T (p.Val255=)
c.768C>T (p.Val256=)
n.806C>T
 gnomAD v4
17g.74695731G>CCA501745332CD300LF,RAB37c.711C>G (p.Val237=)
c.*22C>G (n.*22C>G)
c.72+24073G>C (n.72+24073G>C)
c.607C>G (n.607C>G)
c.742C>G (n.742C>G)
n.479+24073G>C
c.*86C>G (n.*86C>G)
c.720C>G (p.Val240=)
c.756C>G (p.Val252=)
n.883C>G
c.843C>G (p.Val281=)
c.834C>G (p.Val278=)
c.798C>G (p.Val266=)
c.789C>G (p.Val263=)
c.765C>G (p.Val255=)
c.768C>G (p.Val256=)
n.806C>G
17g.74695731G>TCA501745333CD300LF,RAB37c.711C>A (p.Val237=)
c.*22C>A (n.*22C>A)
c.72+24073G>T (n.72+24073G>T)
c.607C>A (n.607C>A)
c.742C>A (n.742C>A)
n.479+24073G>T
c.*86C>A (n.*86C>A)
c.720C>A (p.Val240=)
c.756C>A (p.Val252=)
n.883C>A
c.843C>A (p.Val281=)
c.834C>A (p.Val278=)
c.798C>A (p.Val266=)
c.789C>A (p.Val263=)
c.765C>A (p.Val255=)
c.768C>A (p.Val256=)
n.806C>A
17g.74695732delCA2639711894CD300LF,RAB37c.710del (p.Val237AlafsTer16)
c.*21del (n.*21del)
c.72+24074del (n.72+24074del)
c.606del (n.606del)
c.741del (n.741del)
n.479+24074del
c.*85del (n.*85del)
c.719del (p.Val240AlafsTer16)
c.755del (p.Val252AlafsTer16)
n.882del
c.842del (p.Val281AlafsTer16)
c.833del (p.Val278AlafsTer16)
c.797del (p.Val266AlafsTer16)
c.788del (p.Val263AlafsTer16)
c.764del (p.Val255AlafsTer16)
c.767del (p.Val256AlafsTer16)
n.805del
 gnomAD v4
17g.74695732A=CA2275146982CD300LF,RAB37c.710T= (p.Val237=)
c.*21T= (n.*21T=)
c.72+24074A= (n.72+24074A=)
c.606T= (n.606T=)
c.741T= (n.741T=)
n.479+24074A=
c.*85T= (n.*85T=)
c.719T= (p.Val240=)
c.755T= (p.Val252=)
n.882T=
c.842T= (p.Val281=)
c.833T= (p.Val278=)
c.797T= (p.Val266=)
c.788T= (p.Val263=)
c.764T= (p.Val255=)
c.767T= (p.Val256=)
n.805T=
17g.74695732A>CCA400934888CD300LF,RAB37c.710T>G (p.Val237Gly)
c.*21T>G (n.*21T>G)
c.72+24074A>C (n.72+24074A>C)
c.606T>G (n.606T>G)
c.741T>G (n.741T>G)
n.479+24074A>C
c.*85T>G (n.*85T>G)
c.719T>G (p.Val240Gly)
c.755T>G (p.Val252Gly)
n.882T>G
c.842T>G (p.Val281Gly)
c.833T>G (p.Val278Gly)
c.797T>G (p.Val266Gly)
c.788T>G (p.Val263Gly)
c.764T>G (p.Val255Gly)
c.767T>G (p.Val256Gly)
n.805T>G
17g.74695732A>GCA400934889CD300LF,RAB37c.710T>C (p.Val237Ala)
c.*21T>C (n.*21T>C)
c.72+24074A>G (n.72+24074A>G)
c.606T>C (n.606T>C)
c.741T>C (n.741T>C)
n.479+24074A>G
c.*85T>C (n.*85T>C)
c.719T>C (p.Val240Ala)
c.755T>C (p.Val252Ala)
n.882T>C
c.842T>C (p.Val281Ala)
c.833T>C (p.Val278Ala)
c.797T>C (p.Val266Ala)
c.788T>C (p.Val263Ala)
c.764T>C (p.Val255Ala)
c.767T>C (p.Val256Ala)
n.805T>C
 dbSNP gnomAD v3 gnomAD v4
17g.74695732A>TCA400934891CD300LF,RAB37c.710T>A (p.Val237Asp)
c.*21T>A (n.*21T>A)
c.72+24074A>T (n.72+24074A>T)
c.606T>A (n.606T>A)
c.741T>A (n.741T>A)
n.479+24074A>T
c.*85T>A (n.*85T>A)
c.719T>A (p.Val240Asp)
c.755T>A (p.Val252Asp)
n.882T>A
c.842T>A (p.Val281Asp)
c.833T>A (p.Val278Asp)
c.797T>A (p.Val266Asp)
c.788T>A (p.Val263Asp)
c.764T>A (p.Val255Asp)
c.767T>A (p.Val256Asp)
n.805T>A
17g.74695733C>ACA400934893CD300LF,RAB37c.709G>T (p.Val237Phe)
c.*20G>T (n.*20G>T)
c.72+24075C>A (n.72+24075C>A)
c.605G>T (n.605G>T)
c.740G>T (n.740G>T)
n.479+24075C>A
c.*84G>T (n.*84G>T)
c.718G>T (p.Val240Phe)
c.754G>T (p.Val252Phe)
n.881G>T
c.841G>T (p.Val281Phe)
c.832G>T (p.Val278Phe)
c.796G>T (p.Val266Phe)
c.787G>T (p.Val263Phe)
c.763G>T (p.Val255Phe)
c.766G>T (p.Val256Phe)
n.804G>T
17g.74695733C=CA2275146983CD300LF,RAB37c.709G= (p.Val237=)
c.*20G= (n.*20G=)
c.72+24075C= (n.72+24075C=)
c.605G= (n.605G=)
c.740G= (n.740G=)
n.479+24075C=
c.*84G= (n.*84G=)
c.718G= (p.Val240=)
c.754G= (p.Val252=)
n.881G=
c.841G= (p.Val281=)
c.832G= (p.Val278=)
c.796G= (p.Val266=)
c.787G= (p.Val263=)
c.763G= (p.Val255=)
c.766G= (p.Val256=)
n.804G=
17g.74695733C>GCA400934895CD300LF,RAB37c.709G>C (p.Val237Leu)
c.*20G>C (n.*20G>C)
c.72+24075C>G (n.72+24075C>G)
c.605G>C (n.605G>C)
c.740G>C (n.740G>C)
n.479+24075C>G
c.*84G>C (n.*84G>C)
c.718G>C (p.Val240Leu)
c.754G>C (p.Val252Leu)
n.881G>C
c.841G>C (p.Val281Leu)
c.832G>C (p.Val278Leu)
c.796G>C (p.Val266Leu)
c.787G>C (p.Val263Leu)
c.763G>C (p.Val255Leu)
c.766G>C (p.Val256Leu)
n.804G>C
17g.74695733C>TCA400934896CD300LF,RAB37c.709G>A (p.Val237Ile)
c.*20G>A (n.*20G>A)
c.72+24075C>T (n.72+24075C>T)
c.605G>A (n.605G>A)
c.740G>A (n.740G>A)
n.479+24075C>T
c.*84G>A (n.*84G>A)
c.718G>A (p.Val240Ile)
c.754G>A (p.Val252Ile)
n.881G>A
c.841G>A (p.Val281Ile)
c.832G>A (p.Val278Ile)
c.796G>A (p.Val266Ile)
c.787G>A (p.Val263Ile)
c.763G>A (p.Val255Ile)
c.766G>A (p.Val256Ile)
n.804G>A
 dbSNP
17g.74695734A>CCA400934899CD300LF,RAB37c.708T>G (p.Tyr236Ter)
c.*19T>G (n.*19T>G)
c.72+24076A>C (n.72+24076A>C)
c.604T>G (n.604T>G)
c.739T>G (n.739T>G)
n.479+24076A>C
c.*83T>G (n.*83T>G)
c.717T>G (p.Tyr239Ter)
c.753T>G (p.Tyr251Ter)
n.880T>G
c.840T>G (p.Tyr280Ter)
c.831T>G (p.Tyr277Ter)
c.795T>G (p.Tyr265Ter)
c.786T>G (p.Tyr262Ter)
c.762T>G (p.Tyr254Ter)
c.765T>G (p.Tyr255Ter)
n.803T>G
17g.74695734A>GCA501745334CD300LF,RAB37c.708T>C (p.Tyr236=)
c.*19T>C (n.*19T>C)
c.72+24076A>G (n.72+24076A>G)
c.604T>C (n.604T>C)
c.739T>C (n.739T>C)
n.479+24076A>G
c.*83T>C (n.*83T>C)
c.717T>C (p.Tyr239=)
c.753T>C (p.Tyr251=)
n.880T>C
c.840T>C (p.Tyr280=)
c.831T>C (p.Tyr277=)
c.795T>C (p.Tyr265=)
c.786T>C (p.Tyr262=)
c.762T>C (p.Tyr254=)
c.765T>C (p.Tyr255=)
n.803T>C
 gnomAD v4
17g.74695734A>TCA400934898CD300LF,RAB37c.708T>A (p.Tyr236Ter)
c.*19T>A (n.*19T>A)
c.72+24076A>T (n.72+24076A>T)
c.604T>A (n.604T>A)
c.739T>A (n.739T>A)
n.479+24076A>T
c.*83T>A (n.*83T>A)
c.717T>A (p.Tyr239Ter)
c.753T>A (p.Tyr251Ter)
n.880T>A
c.840T>A (p.Tyr280Ter)
c.831T>A (p.Tyr277Ter)
c.795T>A (p.Tyr265Ter)
c.786T>A (p.Tyr262Ter)
c.762T>A (p.Tyr254Ter)
c.765T>A (p.Tyr255Ter)
n.803T>A
 gnomAD v4
17g.74695734_74695736delCA2639711895CD300LF,RAB37c.706_708del (p.Tyr236del)
c.*17_*19del (n.*17_*19del)
c.72+24076_72+24078del (n.72+24076_72+24078del)
c.602_604del (n.602_604del)
c.737_739del (n.737_739del)
n.479+24076_479+24078del
c.*81_*83del (n.*81_*83del)
c.715_717del (p.Tyr239del)
c.751_753del (p.Tyr251del)
n.878_880del
c.838_840del (p.Tyr280del)
c.829_831del (p.Tyr277del)
c.793_795del (p.Tyr265del)
c.784_786del (p.Tyr262del)
c.760_762del (p.Tyr254del)
c.763_765del (p.Tyr255del)
n.801_803del
 gnomAD v4
17g.74695735T>ACA400934901CD300LF,RAB37c.707A>T (p.Tyr236Phe)
c.*18A>T (n.*18A>T)
c.72+24077T>A (n.72+24077T>A)
c.603A>T (n.603A>T)
c.738A>T (n.738A>T)
n.479+24077T>A
c.*82A>T (n.*82A>T)
c.716A>T (p.Tyr239Phe)
c.752A>T (p.Tyr251Phe)
n.879A>T
c.839A>T (p.Tyr280Phe)
c.830A>T (p.Tyr277Phe)
c.794A>T (p.Tyr265Phe)
c.785A>T (p.Tyr262Phe)
c.761A>T (p.Tyr254Phe)
c.764A>T (p.Tyr255Phe)
n.802A>T
17g.74695735T>CCA400934904CD300LF,RAB37c.707A>G (p.Tyr236Cys)
c.*18A>G (n.*18A>G)
c.72+24077T>C (n.72+24077T>C)
c.603A>G (n.603A>G)
c.738A>G (n.738A>G)
n.479+24077T>C
c.*82A>G (n.*82A>G)
c.716A>G (p.Tyr239Cys)
c.752A>G (p.Tyr251Cys)
n.879A>G
c.839A>G (p.Tyr280Cys)
c.830A>G (p.Tyr277Cys)
c.794A>G (p.Tyr265Cys)
c.785A>G (p.Tyr262Cys)
c.761A>G (p.Tyr254Cys)
c.764A>G (p.Tyr255Cys)
n.802A>G
 dbSNP
17g.74695735T>GCA400934903CD300LF,RAB37c.707A>C (p.Tyr236Ser)
c.*18A>C (n.*18A>C)
c.72+24077T>G (n.72+24077T>G)
c.603A>C (n.603A>C)
c.738A>C (n.738A>C)
n.479+24077T>G
c.*82A>C (n.*82A>C)
c.716A>C (p.Tyr239Ser)
c.752A>C (p.Tyr251Ser)
n.879A>C
c.839A>C (p.Tyr280Ser)
c.830A>C (p.Tyr277Ser)
c.794A>C (p.Tyr265Ser)
c.785A>C (p.Tyr262Ser)
c.761A>C (p.Tyr254Ser)
c.764A>C (p.Tyr255Ser)
n.802A>C
17g.74695735T=CA2275146984CD300LF,RAB37c.707A= (p.Tyr236=)
c.*18A= (n.*18A=)
c.72+24077T= (n.72+24077T=)
c.603A= (n.603A=)
c.738A= (n.738A=)
n.479+24077T=
c.*82A= (n.*82A=)
c.716A= (p.Tyr239=)
c.752A= (p.Tyr251=)
n.879A=
c.839A= (p.Tyr280=)
c.830A= (p.Tyr277=)
c.794A= (p.Tyr265=)
c.785A= (p.Tyr262=)
c.761A= (p.Tyr254=)
c.764A= (p.Tyr255=)
n.802A=
17g.74695736A>CCA400934907CD300LF,RAB37c.706T>G (p.Tyr236Asp)
c.*17T>G (n.*17T>G)
c.72+24078A>C (n.72+24078A>C)
c.602T>G (n.602T>G)
c.737T>G (n.737T>G)
n.479+24078A>C
c.*81T>G (n.*81T>G)
c.715T>G (p.Tyr239Asp)
c.751T>G (p.Tyr251Asp)
n.878T>G
c.838T>G (p.Tyr280Asp)
c.829T>G (p.Tyr277Asp)
c.793T>G (p.Tyr265Asp)
c.784T>G (p.Tyr262Asp)
c.760T>G (p.Tyr254Asp)
c.763T>G (p.Tyr255Asp)
n.801T>G
17g.74695736A>GCA400934908CD300LF,RAB37c.706T>C (p.Tyr236His)
c.*17T>C (n.*17T>C)
c.72+24078A>G (n.72+24078A>G)
c.602T>C (n.602T>C)
c.737T>C (n.737T>C)
n.479+24078A>G
c.*81T>C (n.*81T>C)
c.715T>C (p.Tyr239His)
c.751T>C (p.Tyr251His)
n.878T>C
c.838T>C (p.Tyr280His)
c.829T>C (p.Tyr277His)
c.793T>C (p.Tyr265His)
c.784T>C (p.Tyr262His)
c.760T>C (p.Tyr254His)
c.763T>C (p.Tyr255His)
n.801T>C
 gnomAD v4
17g.74695736A>TCA400934909CD300LF,RAB37c.706T>A (p.Tyr236Asn)
c.*17T>A (n.*17T>A)
c.72+24078A>T (n.72+24078A>T)
c.602T>A (n.602T>A)
c.737T>A (n.737T>A)
n.479+24078A>T
c.*81T>A (n.*81T>A)
c.715T>A (p.Tyr239Asn)
c.751T>A (p.Tyr251Asn)
n.878T>A
c.838T>A (p.Tyr280Asn)
c.829T>A (p.Tyr277Asn)
c.793T>A (p.Tyr265Asn)
c.784T>A (p.Tyr262Asn)
c.760T>A (p.Tyr254Asn)
c.763T>A (p.Tyr255Asn)
n.801T>A
17g.74695737T>ACA400934911CD300LF,RAB37c.705A>T (p.Glu235Asp)
c.*16A>T (n.*16A>T)
c.72+24079T>A (n.72+24079T>A)
c.601A>T (n.601A>T)
c.736A>T (n.736A>T)
n.479+24079T>A
c.*80A>T (n.*80A>T)
c.714A>T (p.Glu238Asp)
c.750A>T (p.Glu250Asp)
n.877A>T
c.837A>T (p.Glu279Asp)
c.828A>T (p.Glu276Asp)
c.792A>T (p.Glu264Asp)
c.783A>T (p.Glu261Asp)
c.759A>T (p.Glu253Asp)
c.762A>T (p.Glu254Asp)
n.800A>T
17g.74695737T>CCA501745335CD300LF,RAB37c.705A>G (p.Glu235=)
c.*16A>G (n.*16A>G)
c.72+24079T>C (n.72+24079T>C)
c.601A>G (n.601A>G)
c.736A>G (n.736A>G)
n.479+24079T>C
c.*80A>G (n.*80A>G)
c.714A>G (p.Glu238=)
c.750A>G (p.Glu250=)
n.877A>G
c.837A>G (p.Glu279=)
c.828A>G (p.Glu276=)
c.792A>G (p.Glu264=)
c.783A>G (p.Glu261=)
c.759A>G (p.Glu253=)
c.762A>G (p.Glu254=)
n.800A>G
 dbSNP gnomAD v4
17g.74695737T>GCA400934912CD300LF,RAB37c.705A>C (p.Glu235Asp)
c.*16A>C (n.*16A>C)
c.72+24079T>G (n.72+24079T>G)
c.601A>C (n.601A>C)
c.736A>C (n.736A>C)
n.479+24079T>G
c.*80A>C (n.*80A>C)
c.714A>C (p.Glu238Asp)
c.750A>C (p.Glu250Asp)
n.877A>C
c.837A>C (p.Glu279Asp)
c.828A>C (p.Glu276Asp)
c.792A>C (p.Glu264Asp)
c.783A>C (p.Glu261Asp)
c.759A>C (p.Glu253Asp)
c.762A>C (p.Glu254Asp)
n.800A>C
 gnomAD v4
17g.74695737T=CA2275146985CD300LF,RAB37c.705A= (p.Glu235=)
c.*16A= (n.*16A=)
c.72+24079T= (n.72+24079T=)
c.601A= (n.601A=)
c.736A= (n.736A=)
n.479+24079T=
c.*80A= (n.*80A=)
c.714A= (p.Glu238=)
c.750A= (p.Glu250=)
n.877A=
c.837A= (p.Glu279=)
c.828A= (p.Glu276=)
c.792A= (p.Glu264=)
c.783A= (p.Glu261=)
c.759A= (p.Glu253=)
c.762A= (p.Glu254=)
n.800A=
17g.74695738T>ACA400934914CD300LF,RAB37c.704A>T (p.Glu235Val)
c.*15A>T (n.*15A>T)
c.72+24080T>A (n.72+24080T>A)
c.600A>T (n.600A>T)
c.735A>T (n.735A>T)
n.479+24080T>A
c.*79A>T (n.*79A>T)
c.713A>T (p.Glu238Val)
c.749A>T (p.Glu250Val)
n.876A>T
c.836A>T (p.Glu279Val)
c.827A>T (p.Glu276Val)
c.791A>T (p.Glu264Val)
c.782A>T (p.Glu261Val)
c.758A>T (p.Glu253Val)
c.761A>T (p.Glu254Val)
n.799A>T
17g.74695738T>CCA400934915CD300LF,RAB37c.704A>G (p.Glu235Gly)
c.*15A>G (n.*15A>G)
c.72+24080T>C (n.72+24080T>C)
c.600A>G (n.600A>G)
c.735A>G (n.735A>G)
n.479+24080T>C
c.*79A>G (n.*79A>G)
c.713A>G (p.Glu238Gly)
c.749A>G (p.Glu250Gly)
n.876A>G
c.836A>G (p.Glu279Gly)
c.827A>G (p.Glu276Gly)
c.791A>G (p.Glu264Gly)
c.782A>G (p.Glu261Gly)
c.758A>G (p.Glu253Gly)
c.761A>G (p.Glu254Gly)
n.799A>G
17g.74695738T>GCA8749750CD300LF,RAB37c.704A>C (p.Glu235Ala)
c.*15A>C (n.*15A>C)
c.72+24080T>G (n.72+24080T>G)
c.600A>C (n.600A>C)
c.735A>C (n.735A>C)
n.479+24080T>G
c.*79A>C (n.*79A>C)
c.713A>C (p.Glu238Ala)
c.749A>C (p.Glu250Ala)
n.876A>C
c.836A>C (p.Glu279Ala)
c.827A>C (p.Glu276Ala)
c.791A>C (p.Glu264Ala)
c.782A>C (p.Glu261Ala)
c.758A>C (p.Glu253Ala)
c.761A>C (p.Glu254Ala)
n.799A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695738T=CA2275146986CD300LF,RAB37c.704A= (p.Glu235=)
c.*15A= (n.*15A=)
c.72+24080T= (n.72+24080T=)
c.600A= (n.600A=)
c.735A= (n.735A=)
n.479+24080T=
c.*79A= (n.*79A=)
c.713A= (p.Glu238=)
c.749A= (p.Glu250=)
n.876A=
c.836A= (p.Glu279=)
c.827A= (p.Glu276=)
c.791A= (p.Glu264=)
c.782A= (p.Glu261=)
c.758A= (p.Glu253=)
c.761A= (p.Glu254=)
n.799A=
17g.74695739C>ACA400934918CD300LF,RAB37c.703G>T (p.Glu235Ter)
c.*14G>T (n.*14G>T)
c.72+24081C>A (n.72+24081C>A)
c.599G>T (n.599G>T)
c.734G>T (n.734G>T)
n.479+24081C>A
c.*78G>T (n.*78G>T)
c.712G>T (p.Glu238Ter)
c.748G>T (p.Glu250Ter)
n.875G>T
c.835G>T (p.Glu279Ter)
c.826G>T (p.Glu276Ter)
c.790G>T (p.Glu264Ter)
c.781G>T (p.Glu261Ter)
c.757G>T (p.Glu253Ter)
c.760G>T (p.Glu254Ter)
n.798G>T
 dbSNP gnomAD v4
17g.74695739C=CA2275146987CD300LF,RAB37c.703G= (p.Glu235=)
c.*14G= (n.*14G=)
c.72+24081C= (n.72+24081C=)
c.599G= (n.599G=)
c.734G= (n.734G=)
n.479+24081C=
c.*78G= (n.*78G=)
c.712G= (p.Glu238=)
c.748G= (p.Glu250=)
n.875G=
c.835G= (p.Glu279=)
c.826G= (p.Glu276=)
c.790G= (p.Glu264=)
c.781G= (p.Glu261=)
c.757G= (p.Glu253=)
c.760G= (p.Glu254=)
n.798G=
17g.74695739C>GCA400934919CD300LF,RAB37c.703G>C (p.Glu235Gln)
c.*14G>C (n.*14G>C)
c.72+24081C>G (n.72+24081C>G)
c.599G>C (n.599G>C)
c.734G>C (n.734G>C)
n.479+24081C>G
c.*78G>C (n.*78G>C)
c.712G>C (p.Glu238Gln)
c.748G>C (p.Glu250Gln)
n.875G>C
c.835G>C (p.Glu279Gln)
c.826G>C (p.Glu276Gln)
c.790G>C (p.Glu264Gln)
c.781G>C (p.Glu261Gln)
c.757G>C (p.Glu253Gln)
c.760G>C (p.Glu254Gln)
n.798G>C
17g.74695739C>TCA400934921CD300LF,RAB37c.703G>A (p.Glu235Lys)
c.*14G>A (n.*14G>A)
c.72+24081C>T (n.72+24081C>T)
c.599G>A (n.599G>A)
c.734G>A (n.734G>A)
n.479+24081C>T
c.*78G>A (n.*78G>A)
c.712G>A (p.Glu238Lys)
c.748G>A (p.Glu250Lys)
n.875G>A
c.835G>A (p.Glu279Lys)
c.826G>A (p.Glu276Lys)
c.790G>A (p.Glu264Lys)
c.781G>A (p.Glu261Lys)
c.757G>A (p.Glu253Lys)
c.760G>A (p.Glu254Lys)
n.798G>A
17g.74695740C>ACA501745336CD300LF,RAB37c.702G>T (p.Val234=)
c.*13G>T (n.*13G>T)
c.72+24082C>A (n.72+24082C>A)
c.598G>T (n.598G>T)
c.733G>T (n.733G>T)
n.479+24082C>A
c.*77G>T (n.*77G>T)
c.711G>T (p.Val237=)
c.747G>T (p.Val249=)
n.874G>T
c.834G>T (p.Val278=)
c.825G>T (p.Val275=)
c.789G>T (p.Val263=)
c.780G>T (p.Val260=)
c.756G>T (p.Val252=)
c.759G>T (p.Val253=)
n.797G>T
17g.74695740C=CA2275146988CD300LF,RAB37c.702G= (p.Val234=)
c.*13G= (n.*13G=)
c.72+24082C= (n.72+24082C=)
c.598G= (n.598G=)
c.733G= (n.733G=)
n.479+24082C=
c.*77G= (n.*77G=)
c.711G= (p.Val237=)
c.747G= (p.Val249=)
n.874G=
c.834G= (p.Val278=)
c.825G= (p.Val275=)
c.789G= (p.Val263=)
c.780G= (p.Val260=)
c.756G= (p.Val252=)
c.759G= (p.Val253=)
n.797G=
17g.74695740C>GCA501745337CD300LF,RAB37c.702G>C (p.Val234=)
c.*13G>C (n.*13G>C)
c.72+24082C>G (n.72+24082C>G)
c.598G>C (n.598G>C)
c.733G>C (n.733G>C)
n.479+24082C>G
c.*77G>C (n.*77G>C)
c.711G>C (p.Val237=)
c.747G>C (p.Val249=)
n.874G>C
c.834G>C (p.Val278=)
c.825G>C (p.Val275=)
c.789G>C (p.Val263=)
c.780G>C (p.Val260=)
c.756G>C (p.Val252=)
c.759G>C (p.Val253=)
n.797G>C
 gnomAD v4
17g.74695740C>TCA501745338CD300LF,RAB37c.702G>A (p.Val234=)
c.*13G>A (n.*13G>A)
c.72+24082C>T (n.72+24082C>T)
c.598G>A (n.598G>A)
c.733G>A (n.733G>A)
n.479+24082C>T
c.*77G>A (n.*77G>A)
c.711G>A (p.Val237=)
c.747G>A (p.Val249=)
n.874G>A
c.834G>A (p.Val278=)
c.825G>A (p.Val275=)
c.789G>A (p.Val263=)
c.780G>A (p.Val260=)
c.756G>A (p.Val252=)
c.759G>A (p.Val253=)
n.797G>A
 dbSNP gnomAD v4
17g.74695741A=CA2275146989CD300LF,RAB37c.701T= (p.Val234=)
c.*12T= (n.*12T=)
c.72+24083A= (n.72+24083A=)
c.597T= (n.597T=)
c.732T= (n.732T=)
n.479+24083A=
c.*76T= (n.*76T=)
c.710T= (p.Val237=)
c.746T= (p.Val249=)
n.873T=
c.833T= (p.Val278=)
c.824T= (p.Val275=)
c.788T= (p.Val263=)
c.779T= (p.Val260=)
c.755T= (p.Val252=)
c.758T= (p.Val253=)
n.796T=
17g.74695741A>CCA400934926CD300LF,RAB37c.701T>G (p.Val234Gly)
c.*12T>G (n.*12T>G)
c.72+24083A>C (n.72+24083A>C)
c.597T>G (n.597T>G)
c.732T>G (n.732T>G)
n.479+24083A>C
c.*76T>G (n.*76T>G)
c.710T>G (p.Val237Gly)
c.746T>G (p.Val249Gly)
n.873T>G
c.833T>G (p.Val278Gly)
c.824T>G (p.Val275Gly)
c.788T>G (p.Val263Gly)
c.779T>G (p.Val260Gly)
c.755T>G (p.Val252Gly)
c.758T>G (p.Val253Gly)
n.796T>G
17g.74695741A>GCA400934924CD300LF,RAB37c.701T>C (p.Val234Ala)
c.*12T>C (n.*12T>C)
c.72+24083A>G (n.72+24083A>G)
c.597T>C (n.597T>C)
c.732T>C (n.732T>C)
n.479+24083A>G
c.*76T>C (n.*76T>C)
c.710T>C (p.Val237Ala)
c.746T>C (p.Val249Ala)
n.873T>C
c.833T>C (p.Val278Ala)
c.824T>C (p.Val275Ala)
c.788T>C (p.Val263Ala)
c.779T>C (p.Val260Ala)
c.755T>C (p.Val252Ala)
c.758T>C (p.Val253Ala)
n.796T>C
 dbSNP
17g.74695741A>TCA400934922CD300LF,RAB37c.701T>A (p.Val234Glu)
c.*12T>A (n.*12T>A)
c.72+24083A>T (n.72+24083A>T)
c.597T>A (n.597T>A)
c.732T>A (n.732T>A)
n.479+24083A>T
c.*76T>A (n.*76T>A)
c.710T>A (p.Val237Glu)
c.746T>A (p.Val249Glu)
n.873T>A
c.833T>A (p.Val278Glu)
c.824T>A (p.Val275Glu)
c.788T>A (p.Val263Glu)
c.779T>A (p.Val260Glu)
c.755T>A (p.Val252Glu)
c.758T>A (p.Val253Glu)
n.796T>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695742C>ACA400934927CD300LF,RAB37c.700G>T (p.Val234Leu)
c.*11G>T (n.*11G>T)
c.72+24084C>A (n.72+24084C>A)
c.596G>T (n.596G>T)
c.731G>T (n.731G>T)
n.479+24084C>A
c.*75G>T (n.*75G>T)
c.709G>T (p.Val237Leu)
c.745G>T (p.Val249Leu)
n.872G>T
c.832G>T (p.Val278Leu)
c.823G>T (p.Val275Leu)
c.787G>T (p.Val263Leu)
c.778G>T (p.Val260Leu)
c.754G>T (p.Val252Leu)
c.757G>T (p.Val253Leu)
n.795G>T
17g.74695742C=CA2275146990CD300LF,RAB37c.700G= (p.Val234=)
c.*11G= (n.*11G=)
c.72+24084C= (n.72+24084C=)
c.596G= (n.596G=)
c.731G= (n.731G=)
n.479+24084C=
c.*75G= (n.*75G=)
c.709G= (p.Val237=)
c.745G= (p.Val249=)
n.872G=
c.832G= (p.Val278=)
c.823G= (p.Val275=)
c.787G= (p.Val263=)
c.778G= (p.Val260=)
c.754G= (p.Val252=)
c.757G= (p.Val253=)
n.795G=
17g.74695742C>GCA400934929CD300LF,RAB37c.700G>C (p.Val234Leu)
c.*11G>C (n.*11G>C)
c.72+24084C>G (n.72+24084C>G)
c.596G>C (n.596G>C)
c.731G>C (n.731G>C)
n.479+24084C>G
c.*75G>C (n.*75G>C)
c.709G>C (p.Val237Leu)
c.745G>C (p.Val249Leu)
n.872G>C
c.832G>C (p.Val278Leu)
c.823G>C (p.Val275Leu)
c.787G>C (p.Val263Leu)
c.778G>C (p.Val260Leu)
c.754G>C (p.Val252Leu)
c.757G>C (p.Val253Leu)
n.795G>C
17g.74695742C>TCA400934930CD300LF,RAB37c.700G>A (p.Val234Met)
c.*11G>A (n.*11G>A)
c.72+24084C>T (n.72+24084C>T)
c.596G>A (n.596G>A)
c.731G>A (n.731G>A)
n.479+24084C>T
c.*75G>A (n.*75G>A)
c.709G>A (p.Val237Met)
c.745G>A (p.Val249Met)
n.872G>A
c.832G>A (p.Val278Met)
c.823G>A (p.Val275Met)
c.787G>A (p.Val263Met)
c.778G>A (p.Val260Met)
c.754G>A (p.Val252Met)
c.757G>A (p.Val253Met)
n.795G>A
 dbSNP gnomAD v2 gnomAD v4
17g.74695743T>ACA400934932CD300LF,RAB37c.699A>T (p.Glu233Asp)
c.*10A>T (n.*10A>T)
c.72+24085T>A (n.72+24085T>A)
c.595A>T (n.595A>T)
c.730A>T (n.730A>T)
n.479+24085T>A
c.*74A>T (n.*74A>T)
c.708A>T (p.Glu236Asp)
c.744A>T (p.Glu248Asp)
n.871A>T
c.831A>T (p.Glu277Asp)
c.822A>T (p.Glu274Asp)
c.786A>T (p.Glu262Asp)
c.777A>T (p.Glu259Asp)
c.753A>T (p.Glu251Asp)
c.756A>T (p.Glu252Asp)
n.794A>T
17g.74695743T>CCA501745339CD300LF,RAB37c.699A>G (p.Glu233=)
c.*10A>G (n.*10A>G)
c.72+24085T>C (n.72+24085T>C)
c.595A>G (n.595A>G)
c.730A>G (n.730A>G)
n.479+24085T>C
c.*74A>G (n.*74A>G)
c.708A>G (p.Glu236=)
c.744A>G (p.Glu248=)
n.871A>G
c.831A>G (p.Glu277=)
c.822A>G (p.Glu274=)
c.786A>G (p.Glu262=)
c.777A>G (p.Glu259=)
c.753A>G (p.Glu251=)
c.756A>G (p.Glu252=)
n.794A>G
17g.74695743T>GCA400934934CD300LF,RAB37c.699A>C (p.Glu233Asp)
c.*10A>C (n.*10A>C)
c.72+24085T>G (n.72+24085T>G)
c.595A>C (n.595A>C)
c.730A>C (n.730A>C)
n.479+24085T>G
c.*74A>C (n.*74A>C)
c.708A>C (p.Glu236Asp)
c.744A>C (p.Glu248Asp)
n.871A>C
c.831A>C (p.Glu277Asp)
c.822A>C (p.Glu274Asp)
c.786A>C (p.Glu262Asp)
c.777A>C (p.Glu259Asp)
c.753A>C (p.Glu251Asp)
c.756A>C (p.Glu252Asp)
n.794A>C
17g.74695744T>ACA400934936CD300LF,RAB37c.698A>T (p.Glu233Val)
c.*9A>T (n.*9A>T)
c.72+24086T>A (n.72+24086T>A)
c.594A>T (n.594A>T)
c.729A>T (n.729A>T)
n.479+24086T>A
c.*73A>T (n.*73A>T)
c.707A>T (p.Glu236Val)
c.743A>T (p.Glu248Val)
n.870A>T
c.830A>T (p.Glu277Val)
c.821A>T (p.Glu274Val)
c.785A>T (p.Glu262Val)
c.776A>T (p.Glu259Val)
c.752A>T (p.Glu251Val)
c.755A>T (p.Glu252Val)
n.793A>T
17g.74695744T>CCA400934938CD300LF,RAB37c.698A>G (p.Glu233Gly)
c.*9A>G (n.*9A>G)
c.72+24086T>C (n.72+24086T>C)
c.594A>G (n.594A>G)
c.729A>G (n.729A>G)
n.479+24086T>C
c.*73A>G (n.*73A>G)
c.707A>G (p.Glu236Gly)
c.743A>G (p.Glu248Gly)
n.870A>G
c.830A>G (p.Glu277Gly)
c.821A>G (p.Glu274Gly)
c.785A>G (p.Glu262Gly)
c.776A>G (p.Glu259Gly)
c.752A>G (p.Glu251Gly)
c.755A>G (p.Glu252Gly)
n.793A>G
 dbSNP gnomAD v4
17g.74695744T>GCA400934940CD300LF,RAB37c.698A>C (p.Glu233Ala)
c.*9A>C (n.*9A>C)
c.72+24086T>G (n.72+24086T>G)
c.594A>C (n.594A>C)
c.729A>C (n.729A>C)
n.479+24086T>G
c.*73A>C (n.*73A>C)
c.707A>C (p.Glu236Ala)
c.743A>C (p.Glu248Ala)
n.870A>C
c.830A>C (p.Glu277Ala)
c.821A>C (p.Glu274Ala)
c.785A>C (p.Glu262Ala)
c.776A>C (p.Glu259Ala)
c.752A>C (p.Glu251Ala)
c.755A>C (p.Glu252Ala)
n.793A>C
17g.74695744T=CA2275146991CD300LF,RAB37c.698A= (p.Glu233=)
c.*9A= (n.*9A=)
c.72+24086T= (n.72+24086T=)
c.594A= (n.594A=)
c.729A= (n.729A=)
n.479+24086T=
c.*73A= (n.*73A=)
c.707A= (p.Glu236=)
c.743A= (p.Glu248=)
n.870A=
c.830A= (p.Glu277=)
c.821A= (p.Glu274=)
c.785A= (p.Glu262=)
c.776A= (p.Glu259=)
c.752A= (p.Glu251=)
c.755A= (p.Glu252=)
n.793A=
17g.74695745C>ACA400934941CD300LF,RAB37c.697G>T (p.Glu233Ter)
c.*8G>T (n.*8G>T)
c.72+24087C>A (n.72+24087C>A)
c.593G>T (n.593G>T)
c.728G>T (n.728G>T)
n.479+24087C>A
c.*72G>T (n.*72G>T)
c.706G>T (p.Glu236Ter)
c.742G>T (p.Glu248Ter)
n.869G>T
c.829G>T (p.Glu277Ter)
c.820G>T (p.Glu274Ter)
c.784G>T (p.Glu262Ter)
c.775G>T (p.Glu259Ter)
c.751G>T (p.Glu251Ter)
c.754G>T (p.Glu252Ter)
n.792G>T
17g.74695745C>GCA400934943CD300LF,RAB37c.697G>C (p.Glu233Gln)
c.*8G>C (n.*8G>C)
c.72+24087C>G (n.72+24087C>G)
c.593G>C (n.593G>C)
c.728G>C (n.728G>C)
n.479+24087C>G
c.*72G>C (n.*72G>C)
c.706G>C (p.Glu236Gln)
c.742G>C (p.Glu248Gln)
n.869G>C
c.829G>C (p.Glu277Gln)
c.820G>C (p.Glu274Gln)
c.784G>C (p.Glu262Gln)
c.775G>C (p.Glu259Gln)
c.751G>C (p.Glu251Gln)
c.754G>C (p.Glu252Gln)
n.792G>C
17g.74695745C>TCA400934944CD300LF,RAB37c.697G>A (p.Glu233Lys)
c.*8G>A (n.*8G>A)
c.72+24087C>T (n.72+24087C>T)
c.593G>A (n.593G>A)
c.728G>A (n.728G>A)
n.479+24087C>T
c.*72G>A (n.*72G>A)
c.706G>A (p.Glu236Lys)
c.742G>A (p.Glu248Lys)
n.869G>A
c.829G>A (p.Glu277Lys)
c.820G>A (p.Glu274Lys)
c.784G>A (p.Glu262Lys)
c.775G>A (p.Glu259Lys)
c.751G>A (p.Glu251Lys)
c.754G>A (p.Glu252Lys)
n.792G>A
17g.74695746C>ACA501745340CD300LF,RAB37c.696G>T (p.Val232=)
c.*7G>T (n.*7G>T)
c.72+24088C>A (n.72+24088C>A)
c.592G>T (n.592G>T)
c.727G>T (n.727G>T)
n.479+24088C>A
c.*71G>T (n.*71G>T)
c.705G>T (p.Val235=)
c.741G>T (p.Val247=)
n.868G>T
c.828G>T (p.Val276=)
c.819G>T (p.Val273=)
c.783G>T (p.Val261=)
c.774G>T (p.Val258=)
c.750G>T (p.Val250=)
c.753G>T (p.Val251=)
n.791G>T
17g.74695746C=CA2275146992CD300LF,RAB37c.696G= (p.Val232=)
c.*7G= (n.*7G=)
c.72+24088C= (n.72+24088C=)
c.592G= (n.592G=)
c.727G= (n.727G=)
n.479+24088C=
c.*71G= (n.*71G=)
c.705G= (p.Val235=)
c.741G= (p.Val247=)
n.868G=
c.828G= (p.Val276=)
c.819G= (p.Val273=)
c.783G= (p.Val261=)
c.774G= (p.Val258=)
c.750G= (p.Val250=)
c.753G= (p.Val251=)
n.791G=
17g.74695746C>GCA501745341CD300LF,RAB37c.696G>C (p.Val232=)
c.*7G>C (n.*7G>C)
c.72+24088C>G (n.72+24088C>G)
c.592G>C (n.592G>C)
c.727G>C (n.727G>C)
n.479+24088C>G
c.*71G>C (n.*71G>C)
c.705G>C (p.Val235=)
c.741G>C (p.Val247=)
n.868G>C
c.828G>C (p.Val276=)
c.819G>C (p.Val273=)
c.783G>C (p.Val261=)
c.774G>C (p.Val258=)
c.750G>C (p.Val250=)
c.753G>C (p.Val251=)
n.791G>C
17g.74695746C>TCA8749751CD300LF,RAB37c.696G>A (p.Val232=)
c.*7G>A (n.*7G>A)
c.72+24088C>T (n.72+24088C>T)
c.592G>A (n.592G>A)
c.727G>A (n.727G>A)
n.479+24088C>T
c.*71G>A (n.*71G>A)
c.705G>A (p.Val235=)
c.741G>A (p.Val247=)
n.868G>A
c.828G>A (p.Val276=)
c.819G>A (p.Val273=)
c.783G>A (p.Val261=)
c.774G>A (p.Val258=)
c.750G>A (p.Val250=)
c.753G>A (p.Val251=)
n.791G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695747A=CA2275146993CD300LF,RAB37c.695T= (p.Val232=)
c.*6T= (n.*6T=)
c.72+24089A= (n.72+24089A=)
c.591T= (n.591T=)
c.726T= (n.726T=)
n.479+24089A=
c.*70T= (n.*70T=)
c.704T= (p.Val235=)
c.740T= (p.Val247=)
n.867T=
c.827T= (p.Val276=)
c.818T= (p.Val273=)
c.782T= (p.Val261=)
c.773T= (p.Val258=)
c.749T= (p.Val250=)
c.752T= (p.Val251=)
n.790T=
17g.74695747A>CCA293928457CD300LF,RAB37c.695T>G (p.Val232Gly)
c.*6T>G (n.*6T>G)
c.72+24089A>C (n.72+24089A>C)
c.591T>G (n.591T>G)
c.726T>G (n.726T>G)
n.479+24089A>C
c.*70T>G (n.*70T>G)
c.704T>G (p.Val235Gly)
c.740T>G (p.Val247Gly)
n.867T>G
c.827T>G (p.Val276Gly)
c.818T>G (p.Val273Gly)
c.782T>G (p.Val261Gly)
c.773T>G (p.Val258Gly)
c.749T>G (p.Val250Gly)
c.752T>G (p.Val251Gly)
n.790T>G
 dbSNP gnomAD v2 gnomAD v4
17g.74695747A>GCA400934948CD300LF,RAB37c.695T>C (p.Val232Ala)
c.*6T>C (n.*6T>C)
c.72+24089A>G (n.72+24089A>G)
c.591T>C (n.591T>C)
c.726T>C (n.726T>C)
n.479+24089A>G
c.*70T>C (n.*70T>C)
c.704T>C (p.Val235Ala)
c.740T>C (p.Val247Ala)
n.867T>C
c.827T>C (p.Val276Ala)
c.818T>C (p.Val273Ala)
c.782T>C (p.Val261Ala)
c.773T>C (p.Val258Ala)
c.749T>C (p.Val250Ala)
c.752T>C (p.Val251Ala)
n.790T>C
17g.74695747A>TCA400934947CD300LF,RAB37c.695T>A (p.Val232Glu)
c.*6T>A (n.*6T>A)
c.72+24089A>T (n.72+24089A>T)
c.591T>A (n.591T>A)
c.726T>A (n.726T>A)
n.479+24089A>T
c.*70T>A (n.*70T>A)
c.704T>A (p.Val235Glu)
c.740T>A (p.Val247Glu)
n.867T>A
c.827T>A (p.Val276Glu)
c.818T>A (p.Val273Glu)
c.782T>A (p.Val261Glu)
c.773T>A (p.Val258Glu)
c.749T>A (p.Val250Glu)
c.752T>A (p.Val251Glu)
n.790T>A
17g.74695748C>ACA400934949CD300LF,RAB37c.694G>T (p.Val232Leu)
c.*5G>T (n.*5G>T)
c.72+24090C>A (n.72+24090C>A)
c.590G>T (n.590G>T)
c.725G>T (n.725G>T)
n.479+24090C>A
c.*69G>T (n.*69G>T)
c.703G>T (p.Val235Leu)
c.739G>T (p.Val247Leu)
n.866G>T
c.826G>T (p.Val276Leu)
c.817G>T (p.Val273Leu)
c.781G>T (p.Val261Leu)
c.772G>T (p.Val258Leu)
c.748G>T (p.Val250Leu)
c.751G>T (p.Val251Leu)
n.789G>T
17g.74695748C>GCA400934950CD300LF,RAB37c.694G>C (p.Val232Leu)
c.*5G>C (n.*5G>C)
c.72+24090C>G (n.72+24090C>G)
c.590G>C (n.590G>C)
c.725G>C (n.725G>C)
n.479+24090C>G
c.*69G>C (n.*69G>C)
c.703G>C (p.Val235Leu)
c.739G>C (p.Val247Leu)
n.866G>C
c.826G>C (p.Val276Leu)
c.817G>C (p.Val273Leu)
c.781G>C (p.Val261Leu)
c.772G>C (p.Val258Leu)
c.748G>C (p.Val250Leu)
c.751G>C (p.Val251Leu)
n.789G>C
17g.74695748C>TCA400934951CD300LF,RAB37c.694G>A (p.Val232Met)
c.*5G>A (n.*5G>A)
c.72+24090C>T (n.72+24090C>T)
c.590G>A (n.590G>A)
c.725G>A (n.725G>A)
n.479+24090C>T
c.*69G>A (n.*69G>A)
c.703G>A (p.Val235Met)
c.739G>A (p.Val247Met)
n.866G>A
c.826G>A (p.Val276Met)
c.817G>A (p.Val273Met)
c.781G>A (p.Val261Met)
c.772G>A (p.Val258Met)
c.748G>A (p.Val250Met)
c.751G>A (p.Val251Met)
n.789G>A
 gnomAD v4
17g.74695749C>ACA400934952CD300LF,RAB37c.693G>T (p.Gln231His)
c.*4G>T (n.*4G>T)
c.72+24091C>A (n.72+24091C>A)
c.589G>T (n.589G>T)
c.724G>T (n.724G>T)
n.479+24091C>A
c.*68G>T (n.*68G>T)
c.702G>T (p.Gln234His)
c.738G>T (p.Gln246His)
n.865G>T
c.825G>T (p.Gln275His)
c.816G>T (p.Gln272His)
c.780G>T (p.Gln260His)
c.771G>T (p.Gln257His)
c.747G>T (p.Gln249His)
c.750G>T (p.Gln250His)
n.788G>T
17g.74695749C>GCA400934953CD300LF,RAB37c.693G>C (p.Gln231His)
c.*4G>C (n.*4G>C)
c.72+24091C>G (n.72+24091C>G)
c.589G>C (n.589G>C)
c.724G>C (n.724G>C)
n.479+24091C>G
c.*68G>C (n.*68G>C)
c.702G>C (p.Gln234His)
c.738G>C (p.Gln246His)
n.865G>C
c.825G>C (p.Gln275His)
c.816G>C (p.Gln272His)
c.780G>C (p.Gln260His)
c.771G>C (p.Gln257His)
c.747G>C (p.Gln249His)
c.750G>C (p.Gln250His)
n.788G>C
17g.74695749C>TCA501745342CD300LF,RAB37c.693G>A (p.Gln231=)
c.*4G>A (n.*4G>A)
c.72+24091C>T (n.72+24091C>T)
c.589G>A (n.589G>A)
c.724G>A (n.724G>A)
n.479+24091C>T
c.*68G>A (n.*68G>A)
c.702G>A (p.Gln234=)
c.738G>A (p.Gln246=)
n.865G>A
c.825G>A (p.Gln275=)
c.816G>A (p.Gln272=)
c.780G>A (p.Gln260=)
c.771G>A (p.Gln257=)
c.747G>A (p.Gln249=)
c.750G>A (p.Gln250=)
n.788G>A
 COSMIC COSMIC
17g.74695750T>ACA400934954CD300LF,RAB37c.692A>T (p.Gln231Leu)
c.*3A>T (n.*3A>T)
c.72+24092T>A (n.72+24092T>A)
c.588A>T (n.588A>T)
c.723A>T (n.723A>T)
n.479+24092T>A
c.*67A>T (n.*67A>T)
c.701A>T (p.Gln234Leu)
c.737A>T (p.Gln246Leu)
n.864A>T
c.824A>T (p.Gln275Leu)
c.815A>T (p.Gln272Leu)
c.779A>T (p.Gln260Leu)
c.770A>T (p.Gln257Leu)
c.746A>T (p.Gln249Leu)
c.749A>T (p.Gln250Leu)
n.787A>T
17g.74695750T>CCA400934955CD300LF,RAB37c.692A>G (p.Gln231Arg)
c.*3A>G (n.*3A>G)
c.72+24092T>C (n.72+24092T>C)
c.588A>G (n.588A>G)
c.723A>G (n.723A>G)
n.479+24092T>C
c.*67A>G (n.*67A>G)
c.701A>G (p.Gln234Arg)
c.737A>G (p.Gln246Arg)
n.864A>G
c.824A>G (p.Gln275Arg)
c.815A>G (p.Gln272Arg)
c.779A>G (p.Gln260Arg)
c.770A>G (p.Gln257Arg)
c.746A>G (p.Gln249Arg)
c.749A>G (p.Gln250Arg)
n.787A>G
17g.74695750T>GCA400934956CD300LF,RAB37c.692A>C (p.Gln231Pro)
c.*3A>C (n.*3A>C)
c.72+24092T>G (n.72+24092T>G)
c.588A>C (n.588A>C)
c.723A>C (n.723A>C)
n.479+24092T>G
c.*67A>C (n.*67A>C)
c.701A>C (p.Gln234Pro)
c.737A>C (p.Gln246Pro)
n.864A>C
c.824A>C (p.Gln275Pro)
c.815A>C (p.Gln272Pro)
c.779A>C (p.Gln260Pro)
c.770A>C (p.Gln257Pro)
c.746A>C (p.Gln249Pro)
c.749A>C (p.Gln250Pro)
n.787A>C
17g.74695751G>ACA400934957CD300LF,RAB37c.691C>T (p.Gln231Ter)
c.*2C>T (n.*2C>T)
c.72+24093G>A (n.72+24093G>A)
c.587C>T (n.587C>T)
c.722C>T (n.722C>T)
n.479+24093G>A
c.*66C>T (n.*66C>T)
c.700C>T (p.Gln234Ter)
c.736C>T (p.Gln246Ter)
n.863C>T
c.823C>T (p.Gln275Ter)
c.814C>T (p.Gln272Ter)
c.778C>T (p.Gln260Ter)
c.769C>T (p.Gln257Ter)
c.745C>T (p.Gln249Ter)
c.748C>T (p.Gln250Ter)
n.786C>T
 gnomAD v4 COSMIC COSMIC
17g.74695751G>CCA400934958CD300LF,RAB37c.691C>G (p.Gln231Glu)
c.*2C>G (n.*2C>G)
c.72+24093G>C (n.72+24093G>C)
c.587C>G (n.587C>G)
c.722C>G (n.722C>G)
n.479+24093G>C
c.*66C>G (n.*66C>G)
c.700C>G (p.Gln234Glu)
c.736C>G (p.Gln246Glu)
n.863C>G
c.823C>G (p.Gln275Glu)
c.814C>G (p.Gln272Glu)
c.778C>G (p.Gln260Glu)
c.769C>G (p.Gln257Glu)
c.745C>G (p.Gln249Glu)
c.748C>G (p.Gln250Glu)
n.786C>G
17g.74695751G>TCA400934959CD300LF,RAB37c.691C>A (p.Gln231Lys)
c.*2C>A (n.*2C>A)
c.72+24093G>T (n.72+24093G>T)
c.587C>A (n.587C>A)
c.722C>A (n.722C>A)
n.479+24093G>T
c.*66C>A (n.*66C>A)
c.700C>A (p.Gln234Lys)
c.736C>A (p.Gln246Lys)
n.863C>A
c.823C>A (p.Gln275Lys)
c.814C>A (p.Gln272Lys)
c.778C>A (p.Gln260Lys)
c.769C>A (p.Gln257Lys)
c.745C>A (p.Gln249Lys)
c.748C>A (p.Gln250Lys)
n.786C>A
17g.74695752G>ACA501745343CD300LF,RAB37c.690C>T (p.Asp230=)
c.*1C>T (n.*1C>T)
c.72+24094G>A (n.72+24094G>A)
c.586C>T (n.586C>T)
c.721C>T (n.721C>T)
n.479+24094G>A
c.*65C>T (n.*65C>T)
c.699C>T (p.Asp233=)
c.735C>T (p.Asp245=)
n.862C>T
c.822C>T (p.Asp274=)
c.813C>T (p.Asp271=)
c.777C>T (p.Asp259=)
c.768C>T (p.Asp256=)
c.744C>T (p.Asp248=)
c.747C>T (p.Asp249=)
n.785C>T
17g.74695752G>CCA400934960CD300LF,RAB37c.690C>G (p.Asp230Glu)
c.*1C>G (n.*1C>G)
c.72+24094G>C (n.72+24094G>C)
c.586C>G (n.586C>G)
c.721C>G (n.721C>G)
n.479+24094G>C
c.*65C>G (n.*65C>G)
c.699C>G (p.Asp233Glu)
c.735C>G (p.Asp245Glu)
n.862C>G
c.822C>G (p.Asp274Glu)
c.813C>G (p.Asp271Glu)
c.777C>G (p.Asp259Glu)
c.768C>G (p.Asp256Glu)
c.744C>G (p.Asp248Glu)
c.747C>G (p.Asp249Glu)
n.785C>G
17g.74695752G>TCA400934961CD300LF,RAB37c.690C>A (p.Asp230Glu)
c.*1C>A (n.*1C>A)
c.72+24094G>T (n.72+24094G>T)
c.586C>A (n.586C>A)
c.721C>A (n.721C>A)
n.479+24094G>T
c.*65C>A (n.*65C>A)
c.699C>A (p.Asp233Glu)
c.735C>A (p.Asp245Glu)
n.862C>A
c.822C>A (p.Asp274Glu)
c.813C>A (p.Asp271Glu)
c.777C>A (p.Asp259Glu)
c.768C>A (p.Asp256Glu)
c.744C>A (p.Asp248Glu)
c.747C>A (p.Asp249Glu)
n.785C>A
17g.74695753T>ACA400934964CD300LF,RAB37c.689A>T (p.Asp230Val)
c.735A>T (p.Ter245Cys)
c.72+24095T>A (n.72+24095T>A)
c.585A>T (p.Ter195Cys)
c.720A>T (p.Ter240Cys)
n.479+24095T>A
c.*64A>T (n.*64A>T)
c.698A>T (p.Asp233Val)
c.734A>T (p.Asp245Val)
c.666A>T (p.Ter222Cys)
n.861A>T
c.821A>T (p.Asp274Val)
c.812A>T (p.Asp271Val)
c.776A>T (p.Asp259Val)
c.767A>T (p.Asp256Val)
c.743A>T (p.Asp248Val)
c.798A>T (p.Ter266Cys)
c.789A>T (p.Ter263Cys)
c.753A>T (p.Ter251Cys)
c.746A>T (p.Asp249Val)
c.801A>T (p.Ter267Cys)
c.792A>T (p.Ter264Cys)
c.744A>T (p.Ter248Cys)
c.723A>T (p.Ter241Cys)
c.711A>T (p.Ter237Cys)
n.784A>T
17g.74695753T>CCA400934962CD300LF,RAB37c.689A>G (p.Asp230Gly)
c.735A>G (p.Ter245Trp)
c.72+24095T>C (n.72+24095T>C)
c.585A>G (p.Ter195Trp)
c.720A>G (p.Ter240Trp)
n.479+24095T>C
c.*64A>G (n.*64A>G)
c.698A>G (p.Asp233Gly)
c.734A>G (p.Asp245Gly)
c.666A>G (p.Ter222Trp)
n.861A>G
c.821A>G (p.Asp274Gly)
c.812A>G (p.Asp271Gly)
c.776A>G (p.Asp259Gly)
c.767A>G (p.Asp256Gly)
c.743A>G (p.Asp248Gly)
c.798A>G (p.Ter266Trp)
c.789A>G (p.Ter263Trp)
c.753A>G (p.Ter251Trp)
c.746A>G (p.Asp249Gly)
c.801A>G (p.Ter267Trp)
c.792A>G (p.Ter264Trp)
c.744A>G (p.Ter248Trp)
c.723A>G (p.Ter241Trp)
c.711A>G (p.Ter237Trp)
n.784A>G
17g.74695753T>GCA400934963CD300LF,RAB37c.689A>C (p.Asp230Ala)
c.735A>C (p.Ter245Cys)
c.72+24095T>G (n.72+24095T>G)
c.585A>C (p.Ter195Cys)
c.720A>C (p.Ter240Cys)
n.479+24095T>G
c.*64A>C (n.*64A>C)
c.698A>C (p.Asp233Ala)
c.734A>C (p.Asp245Ala)
c.666A>C (p.Ter222Cys)
n.861A>C
c.821A>C (p.Asp274Ala)
c.812A>C (p.Asp271Ala)
c.776A>C (p.Asp259Ala)
c.767A>C (p.Asp256Ala)
c.743A>C (p.Asp248Ala)
c.798A>C (p.Ter266Cys)
c.789A>C (p.Ter263Cys)
c.753A>C (p.Ter251Cys)
c.746A>C (p.Asp249Ala)
c.801A>C (p.Ter267Cys)
c.792A>C (p.Ter264Cys)
c.744A>C (p.Ter248Cys)
c.723A>C (p.Ter241Cys)
c.711A>C (p.Ter237Cys)
n.784A>C
17g.74695754C>ACA400934965CD300LF,RAB37c.688G>T (p.Asp230Tyr)
c.734G>T (p.Ter245Leu)
c.72+24096C>A (n.72+24096C>A)
c.584G>T (p.Ter195Leu)
c.719G>T (p.Ter240Leu)
n.479+24096C>A
c.*63G>T (n.*63G>T)
c.697G>T (p.Asp233Tyr)
c.733G>T (p.Asp245Tyr)
c.665G>T (p.Ter222Leu)
n.860G>T
c.820G>T (p.Asp274Tyr)
c.811G>T (p.Asp271Tyr)
c.775G>T (p.Asp259Tyr)
c.766G>T (p.Asp256Tyr)
c.742G>T (p.Asp248Tyr)
c.797G>T (p.Ter266Leu)
c.788G>T (p.Ter263Leu)
c.752G>T (p.Ter251Leu)
c.745G>T (p.Asp249Tyr)
c.800G>T (p.Ter267Leu)
c.791G>T (p.Ter264Leu)
c.743G>T (p.Ter248Leu)
c.722G>T (p.Ter241Leu)
c.710G>T (p.Ter237Leu)
n.783G>T
17g.74695754C>GCA400934966CD300LF,RAB37c.688G>C (p.Asp230His)
c.734G>C (p.Ter245Ser)
c.72+24096C>G (n.72+24096C>G)
c.584G>C (p.Ter195Ser)
c.719G>C (p.Ter240Ser)
n.479+24096C>G
c.*63G>C (n.*63G>C)
c.697G>C (p.Asp233His)
c.733G>C (p.Asp245His)
c.665G>C (p.Ter222Ser)
n.860G>C
c.820G>C (p.Asp274His)
c.811G>C (p.Asp271His)
c.775G>C (p.Asp259His)
c.766G>C (p.Asp256His)
c.742G>C (p.Asp248His)
c.797G>C (p.Ter266Ser)
c.788G>C (p.Ter263Ser)
c.752G>C (p.Ter251Ser)
c.745G>C (p.Asp249His)
c.800G>C (p.Ter267Ser)
c.791G>C (p.Ter264Ser)
c.743G>C (p.Ter248Ser)
c.722G>C (p.Ter241Ser)
c.710G>C (p.Ter237Ser)
n.783G>C
17g.74695754C>TCA400934967CD300LF,RAB37c.688G>A (p.Asp230Asn)
c.734G>A (p.Ter245=)
c.72+24096C>T (n.72+24096C>T)
c.584G>A (p.Ter195=)
c.719G>A (p.Ter240=)
n.479+24096C>T
c.*63G>A (n.*63G>A)
c.697G>A (p.Asp233Asn)
c.733G>A (p.Asp245Asn)
c.665G>A (p.Ter222=)
n.860G>A
c.820G>A (p.Asp274Asn)
c.811G>A (p.Asp271Asn)
c.775G>A (p.Asp259Asn)
c.766G>A (p.Asp256Asn)
c.742G>A (p.Asp248Asn)
c.797G>A (p.Ter266=)
c.788G>A (p.Ter263=)
c.752G>A (p.Ter251=)
c.745G>A (p.Asp249Asn)
c.800G>A (p.Ter267=)
c.791G>A (p.Ter264=)
c.743G>A (p.Ter248=)
c.722G>A (p.Ter241=)
c.710G>A (p.Ter237=)
n.783G>A
 gnomAD v4
17g.74695755A>CCA400934968CD300LF,RAB37c.687T>G (p.Val229=)
c.733T>G (p.Ter245Gly)
c.72+24097A>C (n.72+24097A>C)
c.583T>G (p.Ter195Gly)
c.718T>G (p.Ter240Gly)
n.479+24097A>C
c.*62T>G (n.*62T>G)
c.696T>G (p.Val232=)
c.732T>G (p.Val244=)
c.664T>G (p.Ter222Gly)
n.859T>G
c.819T>G (p.Val273=)
c.810T>G (p.Val270=)
c.774T>G (p.Val258=)
c.765T>G (p.Val255=)
c.741T>G (p.Val247=)
c.796T>G (p.Ter266Gly)
c.787T>G (p.Ter263Gly)
c.751T>G (p.Ter251Gly)
c.744T>G (p.Val248=)
c.799T>G (p.Ter267Gly)
c.790T>G (p.Ter264Gly)
c.742T>G (p.Ter248Gly)
c.721T>G (p.Ter241Gly)
c.709T>G (p.Ter237Gly)
n.782T>G
17g.74695755A>GCA400934969CD300LF,RAB37c.687T>C (p.Val229=)
c.733T>C (p.Ter245Arg)
c.72+24097A>G (n.72+24097A>G)
c.583T>C (p.Ter195Arg)
c.718T>C (p.Ter240Arg)
n.479+24097A>G
c.*62T>C (n.*62T>C)
c.696T>C (p.Val232=)
c.732T>C (p.Val244=)
c.664T>C (p.Ter222Arg)
n.859T>C
c.819T>C (p.Val273=)
c.810T>C (p.Val270=)
c.774T>C (p.Val258=)
c.765T>C (p.Val255=)
c.741T>C (p.Val247=)
c.796T>C (p.Ter266Arg)
c.787T>C (p.Ter263Arg)
c.751T>C (p.Ter251Arg)
c.744T>C (p.Val248=)
c.799T>C (p.Ter267Arg)
c.790T>C (p.Ter264Arg)
c.742T>C (p.Ter248Arg)
c.721T>C (p.Ter241Arg)
c.709T>C (p.Ter237Arg)
n.782T>C
17g.74695755A>TCA400934970CD300LF,RAB37c.687T>A (p.Val229=)
c.733T>A (p.Ter245Arg)
c.72+24097A>T (n.72+24097A>T)
c.583T>A (p.Ter195Arg)
c.718T>A (p.Ter240Arg)
n.479+24097A>T
c.*62T>A (n.*62T>A)
c.696T>A (p.Val232=)
c.732T>A (p.Val244=)
c.664T>A (p.Ter222Arg)
n.859T>A
c.819T>A (p.Val273=)
c.810T>A (p.Val270=)
c.774T>A (p.Val258=)
c.765T>A (p.Val255=)
c.741T>A (p.Val247=)
c.796T>A (p.Ter266Arg)
c.787T>A (p.Ter263Arg)
c.751T>A (p.Ter251Arg)
c.744T>A (p.Val248=)
c.799T>A (p.Ter267Arg)
c.790T>A (p.Ter264Arg)
c.742T>A (p.Ter248Arg)
c.721T>A (p.Ter241Arg)
c.709T>A (p.Ter237Arg)
n.782T>A
17g.74695756A=CA2275146994CD300LF,RAB37c.686T= (p.Val229=)
c.732T= (p.Gly244=)
c.72+24098A= (n.72+24098A=)
c.582T= (p.Gly194=)
c.717T= (p.Gly239=)
n.479+24098A=
c.*61T= (n.*61T=)
c.695T= (p.Val232=)
c.731T= (p.Val244=)
c.663T= (p.Gly221=)
n.858T=
c.818T= (p.Val273=)
c.809T= (p.Val270=)
c.773T= (p.Val258=)
c.764T= (p.Val255=)
c.740T= (p.Val247=)
c.795T= (p.Gly265=)
c.786T= (p.Gly262=)
c.750T= (p.Gly250=)
c.743T= (p.Val248=)
c.798T= (p.Gly266=)
c.789T= (p.Gly263=)
c.741T= (p.Gly247=)
c.720T= (p.Gly240=)
c.708T= (p.Gly236=)
n.781T=
17g.74695756A>CCA400934971CD300LF,RAB37c.686T>G (p.Val229Gly)
c.732T>G (p.Gly244=)
c.72+24098A>C (n.72+24098A>C)
c.582T>G (p.Gly194=)
c.717T>G (p.Gly239=)
n.479+24098A>C
c.*61T>G (n.*61T>G)
c.695T>G (p.Val232Gly)
c.731T>G (p.Val244Gly)
c.663T>G (p.Gly221=)
n.858T>G
c.818T>G (p.Val273Gly)
c.809T>G (p.Val270Gly)
c.773T>G (p.Val258Gly)
c.764T>G (p.Val255Gly)
c.740T>G (p.Val247Gly)
c.795T>G (p.Gly265=)
c.786T>G (p.Gly262=)
c.750T>G (p.Gly250=)
c.743T>G (p.Val248Gly)
c.798T>G (p.Gly266=)
c.789T>G (p.Gly263=)
c.741T>G (p.Gly247=)
c.720T>G (p.Gly240=)
c.708T>G (p.Gly236=)
n.781T>G
 dbSNP
17g.74695756A>GCA8749752CD300LF,RAB37c.686T>C (p.Val229Ala)
c.732T>C (p.Gly244=)
c.72+24098A>G (n.72+24098A>G)
c.582T>C (p.Gly194=)
c.717T>C (p.Gly239=)
n.479+24098A>G
c.*61T>C (n.*61T>C)
c.695T>C (p.Val232Ala)
c.731T>C (p.Val244Ala)
c.663T>C (p.Gly221=)
n.858T>C
c.818T>C (p.Val273Ala)
c.809T>C (p.Val270Ala)
c.773T>C (p.Val258Ala)
c.764T>C (p.Val255Ala)
c.740T>C (p.Val247Ala)
c.795T>C (p.Gly265=)
c.786T>C (p.Gly262=)
c.750T>C (p.Gly250=)
c.743T>C (p.Val248Ala)
c.798T>C (p.Gly266=)
c.789T>C (p.Gly263=)
c.741T>C (p.Gly247=)
c.720T>C (p.Gly240=)
c.708T>C (p.Gly236=)
n.781T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695756A>TCA400934972CD300LF,RAB37c.686T>A (p.Val229Asp)
c.732T>A (p.Gly244=)
c.72+24098A>T (n.72+24098A>T)
c.582T>A (p.Gly194=)
c.717T>A (p.Gly239=)
n.479+24098A>T
c.*61T>A (n.*61T>A)
c.695T>A (p.Val232Asp)
c.731T>A (p.Val244Asp)
c.663T>A (p.Gly221=)
n.858T>A
c.818T>A (p.Val273Asp)
c.809T>A (p.Val270Asp)
c.773T>A (p.Val258Asp)
c.764T>A (p.Val255Asp)
c.740T>A (p.Val247Asp)
c.795T>A (p.Gly265=)
c.786T>A (p.Gly262=)
c.750T>A (p.Gly250=)
c.743T>A (p.Val248Asp)
c.798T>A (p.Gly266=)
c.789T>A (p.Gly263=)
c.741T>A (p.Gly247=)
c.720T>A (p.Gly240=)
c.708T>A (p.Gly236=)
n.781T>A
17g.74695757C>ACA400934973CD300LF,RAB37c.685G>T (p.Val229Phe)
c.731G>T (p.Gly244Val)
c.72+24099C>A (n.72+24099C>A)
c.581G>T (p.Gly194Val)
c.716G>T (p.Gly239Val)
n.479+24099C>A
c.*60G>T (n.*60G>T)
c.694G>T (p.Val232Phe)
c.730G>T (p.Val244Phe)
c.662G>T (p.Gly221Val)
n.857G>T
c.817G>T (p.Val273Phe)
c.808G>T (p.Val270Phe)
c.772G>T (p.Val258Phe)
c.763G>T (p.Val255Phe)
c.739G>T (p.Val247Phe)
c.794G>T (p.Gly265Val)
c.785G>T (p.Gly262Val)
c.749G>T (p.Gly250Val)
c.742G>T (p.Val248Phe)
c.797G>T (p.Gly266Val)
c.788G>T (p.Gly263Val)
c.740G>T (p.Gly247Val)
c.719G>T (p.Gly240Val)
c.707G>T (p.Gly236Val)
n.780G>T
17g.74695757C>GCA400934974CD300LF,RAB37c.685G>C (p.Val229Leu)
c.731G>C (p.Gly244Ala)
c.72+24099C>G (n.72+24099C>G)
c.581G>C (p.Gly194Ala)
c.716G>C (p.Gly239Ala)
n.479+24099C>G
c.*60G>C (n.*60G>C)
c.694G>C (p.Val232Leu)
c.730G>C (p.Val244Leu)
c.662G>C (p.Gly221Ala)
n.857G>C
c.817G>C (p.Val273Leu)
c.808G>C (p.Val270Leu)
c.772G>C (p.Val258Leu)
c.763G>C (p.Val255Leu)
c.739G>C (p.Val247Leu)
c.794G>C (p.Gly265Ala)
c.785G>C (p.Gly262Ala)
c.749G>C (p.Gly250Ala)
c.742G>C (p.Val248Leu)
c.797G>C (p.Gly266Ala)
c.788G>C (p.Gly263Ala)
c.740G>C (p.Gly247Ala)
c.719G>C (p.Gly240Ala)
c.707G>C (p.Gly236Ala)
n.780G>C
17g.74695757C>TCA400934975CD300LF,RAB37c.685G>A (p.Val229Ile)
c.731G>A (p.Gly244Asp)
c.72+24099C>T (n.72+24099C>T)
c.581G>A (p.Gly194Asp)
c.716G>A (p.Gly239Asp)
n.479+24099C>T
c.*60G>A (n.*60G>A)
c.694G>A (p.Val232Ile)
c.730G>A (p.Val244Ile)
c.662G>A (p.Gly221Asp)
n.857G>A
c.817G>A (p.Val273Ile)
c.808G>A (p.Val270Ile)
c.772G>A (p.Val258Ile)
c.763G>A (p.Val255Ile)
c.739G>A (p.Val247Ile)
c.794G>A (p.Gly265Asp)
c.785G>A (p.Gly262Asp)
c.749G>A (p.Gly250Asp)
c.742G>A (p.Val248Ile)
c.797G>A (p.Gly266Asp)
c.788G>A (p.Gly263Asp)
c.740G>A (p.Gly247Asp)
c.719G>A (p.Gly240Asp)
c.707G>A (p.Gly236Asp)
n.780G>A
 gnomAD v4
17g.74695758C>ACA400934978CD300LF,RAB37c.684G>T (p.Gln228His)
c.730G>T (p.Gly244Cys)
c.72+24100C>A (n.72+24100C>A)
c.580G>T (p.Gly194Cys)
c.715G>T (p.Gly239Cys)
n.479+24100C>A
c.*59G>T (n.*59G>T)
c.693G>T (p.Gln231His)
c.729G>T (p.Gln243His)
c.661G>T (p.Gly221Cys)
n.856G>T
c.816G>T (p.Gln272His)
c.807G>T (p.Gln269His)
c.771G>T (p.Gln257His)
c.762G>T (p.Gln254His)
c.738G>T (p.Gln246His)
c.793G>T (p.Gly265Cys)
c.784G>T (p.Gly262Cys)
c.748G>T (p.Gly250Cys)
c.741G>T (p.Gln247His)
c.796G>T (p.Gly266Cys)
c.787G>T (p.Gly263Cys)
c.739G>T (p.Gly247Cys)
c.718G>T (p.Gly240Cys)
c.706G>T (p.Gly236Cys)
n.779G>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695758C=CA2275146995CD300LF,RAB37c.684G= (p.Gln228=)
c.730G= (p.Gly244=)
c.72+24100C= (n.72+24100C=)
c.580G= (p.Gly194=)
c.715G= (p.Gly239=)
n.479+24100C=
c.*59G= (n.*59G=)
c.693G= (p.Gln231=)
c.729G= (p.Gln243=)
c.661G= (p.Gly221=)
n.856G=
c.816G= (p.Gln272=)
c.807G= (p.Gln269=)
c.771G= (p.Gln257=)
c.762G= (p.Gln254=)
c.738G= (p.Gln246=)
c.793G= (p.Gly265=)
c.784G= (p.Gly262=)
c.748G= (p.Gly250=)
c.741G= (p.Gln247=)
c.796G= (p.Gly266=)
c.787G= (p.Gly263=)
c.739G= (p.Gly247=)
c.718G= (p.Gly240=)
c.706G= (p.Gly236=)
n.779G=
17g.74695758C>GCA400934977CD300LF,RAB37c.684G>C (p.Gln228His)
c.730G>C (p.Gly244Arg)
c.72+24100C>G (n.72+24100C>G)
c.580G>C (p.Gly194Arg)
c.715G>C (p.Gly239Arg)
n.479+24100C>G
c.*59G>C (n.*59G>C)
c.693G>C (p.Gln231His)
c.729G>C (p.Gln243His)
c.661G>C (p.Gly221Arg)
n.856G>C
c.816G>C (p.Gln272His)
c.807G>C (p.Gln269His)
c.771G>C (p.Gln257His)
c.762G>C (p.Gln254His)
c.738G>C (p.Gln246His)
c.793G>C (p.Gly265Arg)
c.784G>C (p.Gly262Arg)
c.748G>C (p.Gly250Arg)
c.741G>C (p.Gln247His)
c.796G>C (p.Gly266Arg)
c.787G>C (p.Gly263Arg)
c.739G>C (p.Gly247Arg)
c.718G>C (p.Gly240Arg)
c.706G>C (p.Gly236Arg)
n.779G>C
 dbSNP gnomAD v3 gnomAD v4
17g.74695758C>TCA400934976CD300LF,RAB37c.684G>A (p.Gln228=)
c.730G>A (p.Gly244Ser)
c.72+24100C>T (n.72+24100C>T)
c.580G>A (p.Gly194Ser)
c.715G>A (p.Gly239Ser)
n.479+24100C>T
c.*59G>A (n.*59G>A)
c.693G>A (p.Gln231=)
c.729G>A (p.Gln243=)
c.661G>A (p.Gly221Ser)
n.856G>A
c.816G>A (p.Gln272=)
c.807G>A (p.Gln269=)
c.771G>A (p.Gln257=)
c.762G>A (p.Gln254=)
c.738G>A (p.Gln246=)
c.793G>A (p.Gly265Ser)
c.784G>A (p.Gly262Ser)
c.748G>A (p.Gly250Ser)
c.741G>A (p.Gln247=)
c.796G>A (p.Gly266Ser)
c.787G>A (p.Gly263Ser)
c.739G>A (p.Gly247Ser)
c.718G>A (p.Gly240Ser)
c.706G>A (p.Gly236Ser)
n.779G>A
17g.74695759T>ACA400934979CD300LF,RAB37c.683A>T (p.Gln228Leu)
c.729A>T (p.Pro243=)
c.72+24101T>A (n.72+24101T>A)
c.579A>T (p.Pro193=)
c.714A>T (p.Pro238=)
n.479+24101T>A
c.*58A>T (n.*58A>T)
c.692A>T (p.Gln231Leu)
c.728A>T (p.Gln243Leu)
c.660A>T (p.Pro220=)
n.855A>T
c.815A>T (p.Gln272Leu)
c.806A>T (p.Gln269Leu)
c.770A>T (p.Gln257Leu)
c.761A>T (p.Gln254Leu)
c.737A>T (p.Gln246Leu)
c.792A>T (p.Pro264=)
c.783A>T (p.Pro261=)
c.747A>T (p.Pro249=)
c.740A>T (p.Gln247Leu)
c.795A>T (p.Pro265=)
c.786A>T (p.Pro262=)
c.738A>T (p.Pro246=)
c.717A>T (p.Pro239=)
c.705A>T (p.Pro235=)
n.778A>T
17g.74695759T>CCA8749753CD300LF,RAB37c.683A>G (p.Gln228Arg)
c.729A>G (p.Pro243=)
c.72+24101T>C (n.72+24101T>C)
c.579A>G (p.Pro193=)
c.714A>G (p.Pro238=)
n.479+24101T>C
c.*58A>G (n.*58A>G)
c.692A>G (p.Gln231Arg)
c.728A>G (p.Gln243Arg)
c.660A>G (p.Pro220=)
n.855A>G
c.815A>G (p.Gln272Arg)
c.806A>G (p.Gln269Arg)
c.770A>G (p.Gln257Arg)
c.761A>G (p.Gln254Arg)
c.737A>G (p.Gln246Arg)
c.792A>G (p.Pro264=)
c.783A>G (p.Pro261=)
c.747A>G (p.Pro249=)
c.740A>G (p.Gln247Arg)
c.795A>G (p.Pro265=)
c.786A>G (p.Pro262=)
c.738A>G (p.Pro246=)
c.717A>G (p.Pro239=)
c.705A>G (p.Pro235=)
n.778A>G
 dbSNP ExAC gnomAD v2
17g.74695759T>GCA400934980CD300LF,RAB37c.683A>C (p.Gln228Pro)
c.729A>C (p.Pro243=)
c.72+24101T>G (n.72+24101T>G)
c.579A>C (p.Pro193=)
c.714A>C (p.Pro238=)
n.479+24101T>G
c.*58A>C (n.*58A>C)
c.692A>C (p.Gln231Pro)
c.728A>C (p.Gln243Pro)
c.660A>C (p.Pro220=)
n.855A>C
c.815A>C (p.Gln272Pro)
c.806A>C (p.Gln269Pro)
c.770A>C (p.Gln257Pro)
c.761A>C (p.Gln254Pro)
c.737A>C (p.Gln246Pro)
c.792A>C (p.Pro264=)
c.783A>C (p.Pro261=)
c.747A>C (p.Pro249=)
c.740A>C (p.Gln247Pro)
c.795A>C (p.Pro265=)
c.786A>C (p.Pro262=)
c.738A>C (p.Pro246=)
c.717A>C (p.Pro239=)
c.705A>C (p.Pro235=)
n.778A>C
17g.74695759T=CA2275146996CD300LF,RAB37c.683A= (p.Gln228=)
c.729A= (p.Pro243=)
c.72+24101T= (n.72+24101T=)
c.579A= (p.Pro193=)
c.714A= (p.Pro238=)
n.479+24101T=
c.*58A= (n.*58A=)
c.692A= (p.Gln231=)
c.728A= (p.Gln243=)
c.660A= (p.Pro220=)
n.855A=
c.815A= (p.Gln272=)
c.806A= (p.Gln269=)
c.770A= (p.Gln257=)
c.761A= (p.Gln254=)
c.737A= (p.Gln246=)
c.792A= (p.Pro264=)
c.783A= (p.Pro261=)
c.747A= (p.Pro249=)
c.740A= (p.Gln247=)
c.795A= (p.Pro265=)
c.786A= (p.Pro262=)
c.738A= (p.Pro246=)
c.717A= (p.Pro239=)
c.705A= (p.Pro235=)
n.778A=
17g.74695760G>ACA400934981CD300LF,RAB37c.682C>T (p.Gln228Ter)
c.728C>T (p.Pro243Leu)
c.72+24102G>A (n.72+24102G>A)
c.578C>T (p.Pro193Leu)
c.713C>T (p.Pro238Leu)
n.479+24102G>A
c.*57C>T (n.*57C>T)
c.691C>T (p.Gln231Ter)
c.727C>T (p.Gln243Ter)
c.659C>T (p.Pro220Leu)
n.854C>T
c.814C>T (p.Gln272Ter)
c.805C>T (p.Gln269Ter)
c.769C>T (p.Gln257Ter)
c.760C>T (p.Gln254Ter)
c.736C>T (p.Gln246Ter)
c.791C>T (p.Pro264Leu)
c.782C>T (p.Pro261Leu)
c.746C>T (p.Pro249Leu)
c.739C>T (p.Gln247Ter)
c.794C>T (p.Pro265Leu)
c.785C>T (p.Pro262Leu)
c.737C>T (p.Pro246Leu)
c.716C>T (p.Pro239Leu)
c.704C>T (p.Pro235Leu)
n.777C>T
 gnomAD v4
17g.74695760G>CCA400934983CD300LF,RAB37c.682C>G (p.Gln228Glu)
c.728C>G (p.Pro243Arg)
c.72+24102G>C (n.72+24102G>C)
c.578C>G (p.Pro193Arg)
c.713C>G (p.Pro238Arg)
n.479+24102G>C
c.*57C>G (n.*57C>G)
c.691C>G (p.Gln231Glu)
c.727C>G (p.Gln243Glu)
c.659C>G (p.Pro220Arg)
n.854C>G
c.814C>G (p.Gln272Glu)
c.805C>G (p.Gln269Glu)
c.769C>G (p.Gln257Glu)
c.760C>G (p.Gln254Glu)
c.736C>G (p.Gln246Glu)
c.791C>G (p.Pro264Arg)
c.782C>G (p.Pro261Arg)
c.746C>G (p.Pro249Arg)
c.739C>G (p.Gln247Glu)
c.794C>G (p.Pro265Arg)
c.785C>G (p.Pro262Arg)
c.737C>G (p.Pro246Arg)
c.716C>G (p.Pro239Arg)
c.704C>G (p.Pro235Arg)
n.777C>G
17g.74695760G>TCA400934982CD300LF,RAB37c.682C>A (p.Gln228Lys)
c.728C>A (p.Pro243Gln)
c.72+24102G>T (n.72+24102G>T)
c.578C>A (p.Pro193Gln)
c.713C>A (p.Pro238Gln)
n.479+24102G>T
c.*57C>A (n.*57C>A)
c.691C>A (p.Gln231Lys)
c.727C>A (p.Gln243Lys)
c.659C>A (p.Pro220Gln)
n.854C>A
c.814C>A (p.Gln272Lys)
c.805C>A (p.Gln269Lys)
c.769C>A (p.Gln257Lys)
c.760C>A (p.Gln254Lys)
c.736C>A (p.Gln246Lys)
c.791C>A (p.Pro264Gln)
c.782C>A (p.Pro261Gln)
c.746C>A (p.Pro249Gln)
c.739C>A (p.Gln247Lys)
c.794C>A (p.Pro265Gln)
c.785C>A (p.Pro262Gln)
c.737C>A (p.Pro246Gln)
c.716C>A (p.Pro239Gln)
c.704C>A (p.Pro235Gln)
n.777C>A
17g.74695762delCA2536549728CD300LF,RAB37c.682del (p.Gln228ArgfsTer25)
c.728del (p.Pro243GlnfsTer?)
c.72+24104del (n.72+24104del)
c.578del (p.Pro193GlnfsTer?)
c.713del (p.Pro238GlnfsTer?)
n.479+24104del
c.*57del (n.*57del)
c.691del (p.Gln231ArgfsTer25)
c.727del (p.Gln243ArgfsTer25)
c.659del (p.Pro220GlnfsTer?)
n.854del
c.814del (p.Gln272ArgfsTer25)
c.805del (p.Gln269ArgfsTer25)
c.769del (p.Gln257ArgfsTer25)
c.760del (p.Gln254ArgfsTer25)
c.736del (p.Gln246ArgfsTer25)
c.791del (p.Pro264GlnfsTer?)
c.782del (p.Pro261GlnfsTer?)
c.746del (p.Pro249GlnfsTer?)
c.739del (p.Gln247ArgfsTer25)
c.794del (p.Pro265GlnfsTer?)
c.785del (p.Pro262GlnfsTer?)
c.737del (p.Pro246GlnfsTer?)
c.716del (p.Pro239GlnfsTer?)
c.704del (p.Pro235GlnfsTer?)
n.777del
17g.74695761G>ACA400934984CD300LF,RAB37c.681C>T (p.Ala227=)
c.727C>T (p.Pro243Ser)
c.72+24103G>A (n.72+24103G>A)
c.577C>T (p.Pro193Ser)
c.712C>T (p.Pro238Ser)
n.479+24103G>A
c.*56C>T (n.*56C>T)
c.690C>T (p.Ala230=)
c.726C>T (p.Ala242=)
c.658C>T (p.Pro220Ser)
n.853C>T
c.813C>T (p.Ala271=)
c.804C>T (p.Ala268=)
c.768C>T (p.Ala256=)
c.759C>T (p.Ala253=)
c.735C>T (p.Ala245=)
c.790C>T (p.Pro264Ser)
c.781C>T (p.Pro261Ser)
c.745C>T (p.Pro249Ser)
c.738C>T (p.Ala246=)
c.793C>T (p.Pro265Ser)
c.784C>T (p.Pro262Ser)
c.736C>T (p.Pro246Ser)
c.715C>T (p.Pro239Ser)
c.703C>T (p.Pro235Ser)
n.776C>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695761G>CCA400934985CD300LF,RAB37c.681C>G (p.Ala227=)
c.727C>G (p.Pro243Ala)
c.72+24103G>C (n.72+24103G>C)
c.577C>G (p.Pro193Ala)
c.712C>G (p.Pro238Ala)
n.479+24103G>C
c.*56C>G (n.*56C>G)
c.690C>G (p.Ala230=)
c.726C>G (p.Ala242=)
c.658C>G (p.Pro220Ala)
n.853C>G
c.813C>G (p.Ala271=)
c.804C>G (p.Ala268=)
c.768C>G (p.Ala256=)
c.759C>G (p.Ala253=)
c.735C>G (p.Ala245=)
c.790C>G (p.Pro264Ala)
c.781C>G (p.Pro261Ala)
c.745C>G (p.Pro249Ala)
c.738C>G (p.Ala246=)
c.793C>G (p.Pro265Ala)
c.784C>G (p.Pro262Ala)
c.736C>G (p.Pro246Ala)
c.715C>G (p.Pro239Ala)
c.703C>G (p.Pro235Ala)
n.776C>G
17g.74695761G=CA2275146997CD300LF,RAB37c.681C= (p.Ala227=)
c.727C= (p.Pro243=)
c.72+24103G= (n.72+24103G=)
c.577C= (p.Pro193=)
c.712C= (p.Pro238=)
n.479+24103G=
c.*56C= (n.*56C=)
c.690C= (p.Ala230=)
c.726C= (p.Ala242=)
c.658C= (p.Pro220=)
n.853C=
c.813C= (p.Ala271=)
c.804C= (p.Ala268=)
c.768C= (p.Ala256=)
c.759C= (p.Ala253=)
c.735C= (p.Ala245=)
c.790C= (p.Pro264=)
c.781C= (p.Pro261=)
c.745C= (p.Pro249=)
c.738C= (p.Ala246=)
c.793C= (p.Pro265=)
c.784C= (p.Pro262=)
c.736C= (p.Pro246=)
c.715C= (p.Pro239=)
c.703C= (p.Pro235=)
n.776C=
17g.74695761G>TCA400934986CD300LF,RAB37c.681C>A (p.Ala227=)
c.727C>A (p.Pro243Thr)
c.72+24103G>T (n.72+24103G>T)
c.577C>A (p.Pro193Thr)
c.712C>A (p.Pro238Thr)
n.479+24103G>T
c.*56C>A (n.*56C>A)
c.690C>A (p.Ala230=)
c.726C>A (p.Ala242=)
c.658C>A (p.Pro220Thr)
n.853C>A
c.813C>A (p.Ala271=)
c.804C>A (p.Ala268=)
c.768C>A (p.Ala256=)
c.759C>A (p.Ala253=)
c.735C>A (p.Ala245=)
c.790C>A (p.Pro264Thr)
c.781C>A (p.Pro261Thr)
c.745C>A (p.Pro249Thr)
c.738C>A (p.Ala246=)
c.793C>A (p.Pro265Thr)
c.784C>A (p.Pro262Thr)
c.736C>A (p.Pro246Thr)
c.715C>A (p.Pro239Thr)
c.703C>A (p.Pro235Thr)
n.776C>A
17g.74695762G>ACA400934987CD300LF,RAB37c.680C>T (p.Ala227Val)
c.726C>T (p.Cys242=)
c.72+24104G>A (n.72+24104G>A)
c.576C>T (p.Cys192=)
c.711C>T (p.Cys237=)
n.479+24104G>A
c.*55C>T (n.*55C>T)
c.689C>T (p.Ala230Val)
c.725C>T (p.Ala242Val)
c.657C>T (p.Cys219=)
n.852C>T
c.812C>T (p.Ala271Val)
c.803C>T (p.Ala268Val)
c.767C>T (p.Ala256Val)
c.758C>T (p.Ala253Val)
c.734C>T (p.Ala245Val)
c.789C>T (p.Cys263=)
c.780C>T (p.Cys260=)
c.744C>T (p.Cys248=)
c.737C>T (p.Ala246Val)
c.792C>T (p.Cys264=)
c.783C>T (p.Cys261=)
c.735C>T (p.Cys245=)
c.714C>T (p.Cys238=)
c.702C>T (p.Cys234=)
n.775C>T
 COSMIC COSMIC COSMIC
17g.74695762G>CCA400934988CD300LF,RAB37c.680C>G (p.Ala227Gly)
c.726C>G (p.Cys242Trp)
c.72+24104G>C (n.72+24104G>C)
c.576C>G (p.Cys192Trp)
c.711C>G (p.Cys237Trp)
n.479+24104G>C
c.*55C>G (n.*55C>G)
c.689C>G (p.Ala230Gly)
c.725C>G (p.Ala242Gly)
c.657C>G (p.Cys219Trp)
n.852C>G
c.812C>G (p.Ala271Gly)
c.803C>G (p.Ala268Gly)
c.767C>G (p.Ala256Gly)
c.758C>G (p.Ala253Gly)
c.734C>G (p.Ala245Gly)
c.789C>G (p.Cys263Trp)
c.780C>G (p.Cys260Trp)
c.744C>G (p.Cys248Trp)
c.737C>G (p.Ala246Gly)
c.792C>G (p.Cys264Trp)
c.783C>G (p.Cys261Trp)
c.735C>G (p.Cys245Trp)
c.714C>G (p.Cys238Trp)
c.702C>G (p.Cys234Trp)
n.775C>G
17g.74695762G>TCA400934989CD300LF,RAB37c.680C>A (p.Ala227Asp)
c.726C>A (p.Cys242Ter)
c.72+24104G>T (n.72+24104G>T)
c.576C>A (p.Cys192Ter)
c.711C>A (p.Cys237Ter)
n.479+24104G>T
c.*55C>A (n.*55C>A)
c.689C>A (p.Ala230Asp)
c.725C>A (p.Ala242Asp)
c.657C>A (p.Cys219Ter)
n.852C>A
c.812C>A (p.Ala271Asp)
c.803C>A (p.Ala268Asp)
c.767C>A (p.Ala256Asp)
c.758C>A (p.Ala253Asp)
c.734C>A (p.Ala245Asp)
c.789C>A (p.Cys263Ter)
c.780C>A (p.Cys260Ter)
c.744C>A (p.Cys248Ter)
c.737C>A (p.Ala246Asp)
c.792C>A (p.Cys264Ter)
c.783C>A (p.Cys261Ter)
c.735C>A (p.Cys245Ter)
c.714C>A (p.Cys238Ter)
c.702C>A (p.Cys234Ter)
n.775C>A
17g.74695763C>ACA400934990CD300LF,RAB37c.679G>T (p.Ala227Ser)
c.725G>T (p.Cys242Phe)
c.72+24105C>A (n.72+24105C>A)
c.575G>T (p.Cys192Phe)
c.710G>T (p.Cys237Phe)
n.479+24105C>A
c.*54G>T (n.*54G>T)
c.688G>T (p.Ala230Ser)
c.724G>T (p.Ala242Ser)
c.656G>T (p.Cys219Phe)
n.851G>T
c.811G>T (p.Ala271Ser)
c.802G>T (p.Ala268Ser)
c.766G>T (p.Ala256Ser)
c.757G>T (p.Ala253Ser)
c.733G>T (p.Ala245Ser)
c.788G>T (p.Cys263Phe)
c.779G>T (p.Cys260Phe)
c.743G>T (p.Cys248Phe)
c.736G>T (p.Ala246Ser)
c.791G>T (p.Cys264Phe)
c.782G>T (p.Cys261Phe)
c.734G>T (p.Cys245Phe)
c.713G>T (p.Cys238Phe)
c.701G>T (p.Cys234Phe)
n.774G>T
17g.74695763C=CA2275146998CD300LF,RAB37c.679G= (p.Ala227=)
c.725G= (p.Cys242=)
c.72+24105C= (n.72+24105C=)
c.575G= (p.Cys192=)
c.710G= (p.Cys237=)
n.479+24105C=
c.*54G= (n.*54G=)
c.688G= (p.Ala230=)
c.724G= (p.Ala242=)
c.656G= (p.Cys219=)
n.851G=
c.811G= (p.Ala271=)
c.802G= (p.Ala268=)
c.766G= (p.Ala256=)
c.757G= (p.Ala253=)
c.733G= (p.Ala245=)
c.788G= (p.Cys263=)
c.779G= (p.Cys260=)
c.743G= (p.Cys248=)
c.736G= (p.Ala246=)
c.791G= (p.Cys264=)
c.782G= (p.Cys261=)
c.734G= (p.Cys245=)
c.713G= (p.Cys238=)
c.701G= (p.Cys234=)
n.774G=
17g.74695763C>GCA400934991CD300LF,RAB37c.679G>C (p.Ala227Pro)
c.725G>C (p.Cys242Ser)
c.72+24105C>G (n.72+24105C>G)
c.575G>C (p.Cys192Ser)
c.710G>C (p.Cys237Ser)
n.479+24105C>G
c.*54G>C (n.*54G>C)
c.688G>C (p.Ala230Pro)
c.724G>C (p.Ala242Pro)
c.656G>C (p.Cys219Ser)
n.851G>C
c.811G>C (p.Ala271Pro)
c.802G>C (p.Ala268Pro)
c.766G>C (p.Ala256Pro)
c.757G>C (p.Ala253Pro)
c.733G>C (p.Ala245Pro)
c.788G>C (p.Cys263Ser)
c.779G>C (p.Cys260Ser)
c.743G>C (p.Cys248Ser)
c.736G>C (p.Ala246Pro)
c.791G>C (p.Cys264Ser)
c.782G>C (p.Cys261Ser)
c.734G>C (p.Cys245Ser)
c.713G>C (p.Cys238Ser)
c.701G>C (p.Cys234Ser)
n.774G>C
17g.74695763C>TCA400934992CD300LF,RAB37c.679G>A (p.Ala227Thr)
c.725G>A (p.Cys242Tyr)
c.72+24105C>T (n.72+24105C>T)
c.575G>A (p.Cys192Tyr)
c.710G>A (p.Cys237Tyr)
n.479+24105C>T
c.*54G>A (n.*54G>A)
c.688G>A (p.Ala230Thr)
c.724G>A (p.Ala242Thr)
c.656G>A (p.Cys219Tyr)
n.851G>A
c.811G>A (p.Ala271Thr)
c.802G>A (p.Ala268Thr)
c.766G>A (p.Ala256Thr)
c.757G>A (p.Ala253Thr)
c.733G>A (p.Ala245Thr)
c.788G>A (p.Cys263Tyr)
c.779G>A (p.Cys260Tyr)
c.743G>A (p.Cys248Tyr)
c.736G>A (p.Ala246Thr)
c.791G>A (p.Cys264Tyr)
c.782G>A (p.Cys261Tyr)
c.734G>A (p.Cys245Tyr)
c.713G>A (p.Cys238Tyr)
c.701G>A (p.Cys234Tyr)
n.774G>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695764A>CCA400934993CD300LF,RAB37c.678T>G (p.Ser226=)
c.724T>G (p.Cys242Gly)
c.72+24106A>C (n.72+24106A>C)
c.574T>G (p.Cys192Gly)
c.709T>G (p.Cys237Gly)
n.479+24106A>C
c.*53T>G (n.*53T>G)
c.687T>G (p.Ser229=)
c.723T>G (p.Ser241=)
c.655T>G (p.Cys219Gly)
n.850T>G
c.810T>G (p.Ser270=)
c.801T>G (p.Ser267=)
c.765T>G (p.Ser255=)
c.756T>G (p.Ser252=)
c.732T>G (p.Ser244=)
c.787T>G (p.Cys263Gly)
c.778T>G (p.Cys260Gly)
c.742T>G (p.Cys248Gly)
c.735T>G (p.Ser245=)
c.790T>G (p.Cys264Gly)
c.781T>G (p.Cys261Gly)
c.733T>G (p.Cys245Gly)
c.712T>G (p.Cys238Gly)
c.700T>G (p.Cys234Gly)
n.773T>G
17g.74695764A>GCA400934994CD300LF,RAB37c.678T>C (p.Ser226=)
c.724T>C (p.Cys242Arg)
c.72+24106A>G (n.72+24106A>G)
c.574T>C (p.Cys192Arg)
c.709T>C (p.Cys237Arg)
n.479+24106A>G
c.*53T>C (n.*53T>C)
c.687T>C (p.Ser229=)
c.723T>C (p.Ser241=)
c.655T>C (p.Cys219Arg)
n.850T>C
c.810T>C (p.Ser270=)
c.801T>C (p.Ser267=)
c.765T>C (p.Ser255=)
c.756T>C (p.Ser252=)
c.732T>C (p.Ser244=)
c.787T>C (p.Cys263Arg)
c.778T>C (p.Cys260Arg)
c.742T>C (p.Cys248Arg)
c.735T>C (p.Ser245=)
c.790T>C (p.Cys264Arg)
c.781T>C (p.Cys261Arg)
c.733T>C (p.Cys245Arg)
c.712T>C (p.Cys238Arg)
c.700T>C (p.Cys234Arg)
n.773T>C
17g.74695764A>TCA400934995CD300LF,RAB37c.678T>A (p.Ser226=)
c.724T>A (p.Cys242Ser)
c.72+24106A>T (n.72+24106A>T)
c.574T>A (p.Cys192Ser)
c.709T>A (p.Cys237Ser)
n.479+24106A>T
c.*53T>A (n.*53T>A)
c.687T>A (p.Ser229=)
c.723T>A (p.Ser241=)
c.655T>A (p.Cys219Ser)
n.850T>A
c.810T>A (p.Ser270=)
c.801T>A (p.Ser267=)
c.765T>A (p.Ser255=)
c.756T>A (p.Ser252=)
c.732T>A (p.Ser244=)
c.787T>A (p.Cys263Ser)
c.778T>A (p.Cys260Ser)
c.742T>A (p.Cys248Ser)
c.735T>A (p.Ser245=)
c.790T>A (p.Cys264Ser)
c.781T>A (p.Cys261Ser)
c.733T>A (p.Cys245Ser)
c.712T>A (p.Cys238Ser)
c.700T>A (p.Cys234Ser)
n.773T>A
17g.74695765G>ACA8749754CD300LF,RAB37c.677C>T (p.Ser226Phe)
c.723C>T (p.Leu241=)
c.72+24107G>A (n.72+24107G>A)
c.573C>T (p.Leu191=)
c.708C>T (p.Leu236=)
n.479+24107G>A
c.*52C>T (n.*52C>T)
c.686C>T (p.Ser229Phe)
c.722C>T (p.Ser241Phe)
c.654C>T (p.Leu218=)
n.849C>T
c.809C>T (p.Ser270Phe)
c.800C>T (p.Ser267Phe)
c.764C>T (p.Ser255Phe)
c.755C>T (p.Ser252Phe)
c.731C>T (p.Ser244Phe)
c.786C>T (p.Leu262=)
c.777C>T (p.Leu259=)
c.741C>T (p.Leu247=)
c.734C>T (p.Ser245Phe)
c.789C>T (p.Leu263=)
c.780C>T (p.Leu260=)
c.732C>T (p.Leu244=)
c.711C>T (p.Leu237=)
c.699C>T (p.Leu233=)
n.772C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.74695765G>CCA400934997CD300LF,RAB37c.677C>G (p.Ser226Cys)
c.723C>G (p.Leu241=)
c.72+24107G>C (n.72+24107G>C)
c.573C>G (p.Leu191=)
c.708C>G (p.Leu236=)
n.479+24107G>C
c.*52C>G (n.*52C>G)
c.686C>G (p.Ser229Cys)
c.722C>G (p.Ser241Cys)
c.654C>G (p.Leu218=)
n.849C>G
c.809C>G (p.Ser270Cys)
c.800C>G (p.Ser267Cys)
c.764C>G (p.Ser255Cys)
c.755C>G (p.Ser252Cys)
c.731C>G (p.Ser244Cys)
c.786C>G (p.Leu262=)
c.777C>G (p.Leu259=)
c.741C>G (p.Leu247=)
c.734C>G (p.Ser245Cys)
c.789C>G (p.Leu263=)
c.780C>G (p.Leu260=)
c.732C>G (p.Leu244=)
c.711C>G (p.Leu237=)
c.699C>G (p.Leu233=)
n.772C>G
17g.74695765G=CA2275146999CD300LF,RAB37c.677C= (p.Ser226=)
c.723C= (p.Leu241=)
c.72+24107G= (n.72+24107G=)
c.573C= (p.Leu191=)
c.708C= (p.Leu236=)
n.479+24107G=
c.*52C= (n.*52C=)
c.686C= (p.Ser229=)
c.722C= (p.Ser241=)
c.654C= (p.Leu218=)
n.849C=
c.809C= (p.Ser270=)
c.800C= (p.Ser267=)
c.764C= (p.Ser255=)
c.755C= (p.Ser252=)
c.731C= (p.Ser244=)
c.786C= (p.Leu262=)
c.777C= (p.Leu259=)
c.741C= (p.Leu247=)
c.734C= (p.Ser245=)
c.789C= (p.Leu263=)
c.780C= (p.Leu260=)
c.732C= (p.Leu244=)
c.711C= (p.Leu237=)
c.699C= (p.Leu233=)
n.772C=
17g.74695765G>TCA400934996CD300LF,RAB37c.677C>A (p.Ser226Tyr)
c.723C>A (p.Leu241=)
c.72+24107G>T (n.72+24107G>T)
c.573C>A (p.Leu191=)
c.708C>A (p.Leu236=)
n.479+24107G>T
c.*52C>A (n.*52C>A)
c.686C>A (p.Ser229Tyr)
c.722C>A (p.Ser241Tyr)
c.654C>A (p.Leu218=)
n.849C>A
c.809C>A (p.Ser270Tyr)
c.800C>A (p.Ser267Tyr)
c.764C>A (p.Ser255Tyr)
c.755C>A (p.Ser252Tyr)
c.731C>A (p.Ser244Tyr)
c.786C>A (p.Leu262=)
c.777C>A (p.Leu259=)
c.741C>A (p.Leu247=)
c.734C>A (p.Ser245Tyr)
c.789C>A (p.Leu263=)
c.780C>A (p.Leu260=)
c.732C>A (p.Leu244=)
c.711C>A (p.Leu237=)
c.699C>A (p.Leu233=)
n.772C>A
17g.74695766A>CCA400934998CD300LF,RAB37c.676T>G (p.Ser226Ala)
c.722T>G (p.Leu241Arg)
c.72+24108A>C (n.72+24108A>C)
c.572T>G (p.Leu191Arg)
c.707T>G (p.Leu236Arg)
n.479+24108A>C
c.*51T>G (n.*51T>G)
c.685T>G (p.Ser229Ala)
c.721T>G (p.Ser241Ala)
c.653T>G (p.Leu218Arg)
n.848T>G
c.808T>G (p.Ser270Ala)
c.799T>G (p.Ser267Ala)
c.763T>G (p.Ser255Ala)
c.754T>G (p.Ser252Ala)
c.730T>G (p.Ser244Ala)
c.785T>G (p.Leu262Arg)
c.776T>G (p.Leu259Arg)
c.740T>G (p.Leu247Arg)
c.733T>G (p.Ser245Ala)
c.788T>G (p.Leu263Arg)
c.779T>G (p.Leu260Arg)
c.731T>G (p.Leu244Arg)
c.710T>G (p.Leu237Arg)
c.698T>G (p.Leu233Arg)
n.771T>G
17g.74695766A>GCA400934999CD300LF,RAB37c.676T>C (p.Ser226Pro)
c.722T>C (p.Leu241Pro)
c.72+24108A>G (n.72+24108A>G)
c.572T>C (p.Leu191Pro)
c.707T>C (p.Leu236Pro)
n.479+24108A>G
c.*51T>C (n.*51T>C)
c.685T>C (p.Ser229Pro)
c.721T>C (p.Ser241Pro)
c.653T>C (p.Leu218Pro)
n.848T>C
c.808T>C (p.Ser270Pro)
c.799T>C (p.Ser267Pro)
c.763T>C (p.Ser255Pro)
c.754T>C (p.Ser252Pro)
c.730T>C (p.Ser244Pro)
c.785T>C (p.Leu262Pro)
c.776T>C (p.Leu259Pro)
c.740T>C (p.Leu247Pro)
c.733T>C (p.Ser245Pro)
c.788T>C (p.Leu263Pro)
c.779T>C (p.Leu260Pro)
c.731T>C (p.Leu244Pro)
c.710T>C (p.Leu237Pro)
c.698T>C (p.Leu233Pro)
n.771T>C
17g.74695766A>TCA400935000CD300LF,RAB37c.676T>A (p.Ser226Thr)
c.722T>A (p.Leu241His)
c.72+24108A>T (n.72+24108A>T)
c.572T>A (p.Leu191His)
c.707T>A (p.Leu236His)
n.479+24108A>T
c.*51T>A (n.*51T>A)
c.685T>A (p.Ser229Thr)
c.721T>A (p.Ser241Thr)
c.653T>A (p.Leu218His)
n.848T>A
c.808T>A (p.Ser270Thr)
c.799T>A (p.Ser267Thr)
c.763T>A (p.Ser255Thr)
c.754T>A (p.Ser252Thr)
c.730T>A (p.Ser244Thr)
c.785T>A (p.Leu262His)
c.776T>A (p.Leu259His)
c.740T>A (p.Leu247His)
c.733T>A (p.Ser245Thr)
c.788T>A (p.Leu263His)
c.779T>A (p.Leu260His)
c.731T>A (p.Leu244His)
c.710T>A (p.Leu237His)
c.698T>A (p.Leu233His)
n.771T>A
17g.74695767G>ACA400935001CD300LF,RAB37c.675C>T (p.Ser225=)
c.721C>T (p.Leu241Phe)
c.72+24109G>A (n.72+24109G>A)
c.571C>T (p.Leu191Phe)
c.706C>T (p.Leu236Phe)
n.479+24109G>A
c.*50C>T (n.*50C>T)
c.684C>T (p.Ser228=)
c.720C>T (p.Ser240=)
c.652C>T (p.Leu218Phe)
n.847C>T
c.807C>T (p.Ser269=)
c.798C>T (p.Ser266=)
c.762C>T (p.Ser254=)
c.753C>T (p.Ser251=)
c.729C>T (p.Ser243=)
c.784C>T (p.Leu262Phe)
c.775C>T (p.Leu259Phe)
c.739C>T (p.Leu247Phe)
c.732C>T (p.Ser244=)
c.787C>T (p.Leu263Phe)
c.778C>T (p.Leu260Phe)
c.730C>T (p.Leu244Phe)
c.709C>T (p.Leu237Phe)
c.697C>T (p.Leu233Phe)
n.770C>T
17g.74695767G>CCA400935002CD300LF,RAB37c.675C>G (p.Ser225=)
c.721C>G (p.Leu241Val)
c.72+24109G>C (n.72+24109G>C)
c.571C>G (p.Leu191Val)
c.706C>G (p.Leu236Val)
n.479+24109G>C
c.*50C>G (n.*50C>G)
c.684C>G (p.Ser228=)
c.720C>G (p.Ser240=)
c.652C>G (p.Leu218Val)
n.847C>G
c.807C>G (p.Ser269=)
c.798C>G (p.Ser266=)
c.762C>G (p.Ser254=)
c.753C>G (p.Ser251=)
c.729C>G (p.Ser243=)
c.784C>G (p.Leu262Val)
c.775C>G (p.Leu259Val)
c.739C>G (p.Leu247Val)
c.732C>G (p.Ser244=)
c.787C>G (p.Leu263Val)
c.778C>G (p.Leu260Val)
c.730C>G (p.Leu244Val)
c.709C>G (p.Leu237Val)
c.697C>G (p.Leu233Val)
n.770C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695767G=CA2275147000CD300LF,RAB37c.675C= (p.Ser225=)
c.721C= (p.Leu241=)
c.72+24109G= (n.72+24109G=)
c.571C= (p.Leu191=)
c.706C= (p.Leu236=)
n.479+24109G=
c.*50C= (n.*50C=)
c.684C= (p.Ser228=)
c.720C= (p.Ser240=)
c.652C= (p.Leu218=)
n.847C=
c.807C= (p.Ser269=)
c.798C= (p.Ser266=)
c.762C= (p.Ser254=)
c.753C= (p.Ser251=)
c.729C= (p.Ser243=)
c.784C= (p.Leu262=)
c.775C= (p.Leu259=)
c.739C= (p.Leu247=)
c.732C= (p.Ser244=)
c.787C= (p.Leu263=)
c.778C= (p.Leu260=)
c.730C= (p.Leu244=)
c.709C= (p.Leu237=)
c.697C= (p.Leu233=)
n.770C=
17g.74695767G>TCA400935003CD300LF,RAB37c.675C>A (p.Ser225=)
c.721C>A (p.Leu241Ile)
c.72+24109G>T (n.72+24109G>T)
c.571C>A (p.Leu191Ile)
c.706C>A (p.Leu236Ile)
n.479+24109G>T
c.*50C>A (n.*50C>A)
c.684C>A (p.Ser228=)
c.720C>A (p.Ser240=)
c.652C>A (p.Leu218Ile)
n.847C>A
c.807C>A (p.Ser269=)
c.798C>A (p.Ser266=)
c.762C>A (p.Ser254=)
c.753C>A (p.Ser251=)
c.729C>A (p.Ser243=)
c.784C>A (p.Leu262Ile)
c.775C>A (p.Leu259Ile)
c.739C>A (p.Leu247Ile)
c.732C>A (p.Ser244=)
c.787C>A (p.Leu263Ile)
c.778C>A (p.Leu260Ile)
c.730C>A (p.Leu244Ile)
c.709C>A (p.Leu237Ile)
c.697C>A (p.Leu233Ile)
n.770C>A
17g.74695768G>ACA400935004CD300LF,RAB37c.674C>T (p.Ser225Phe)
c.720C>T (p.Phe240=)
c.72+24110G>A (n.72+24110G>A)
c.570C>T (p.Phe190=)
c.705C>T (p.Phe235=)
n.479+24110G>A
c.*49C>T (n.*49C>T)
c.683C>T (p.Ser228Phe)
c.719C>T (p.Ser240Phe)
c.651C>T (p.Phe217=)
n.846C>T
c.806C>T (p.Ser269Phe)
c.797C>T (p.Ser266Phe)
c.761C>T (p.Ser254Phe)
c.752C>T (p.Ser251Phe)
c.728C>T (p.Ser243Phe)
c.783C>T (p.Phe261=)
c.774C>T (p.Phe258=)
c.738C>T (p.Phe246=)
c.731C>T (p.Ser244Phe)
c.786C>T (p.Phe262=)
c.777C>T (p.Phe259=)
c.729C>T (p.Phe243=)
c.708C>T (p.Phe236=)
c.696C>T (p.Phe232=)
n.769C>T
 dbSNP gnomAD v4 COSMIC COSMIC
17g.74695768G>CCA400935005CD300LF,RAB37c.674C>G (p.Ser225Cys)
c.720C>G (p.Phe240Leu)
c.72+24110G>C (n.72+24110G>C)
c.570C>G (p.Phe190Leu)
c.705C>G (p.Phe235Leu)
n.479+24110G>C
c.*49C>G (n.*49C>G)
c.683C>G (p.Ser228Cys)
c.719C>G (p.Ser240Cys)
c.651C>G (p.Phe217Leu)
n.846C>G
c.806C>G (p.Ser269Cys)
c.797C>G (p.Ser266Cys)
c.761C>G (p.Ser254Cys)
c.752C>G (p.Ser251Cys)
c.728C>G (p.Ser243Cys)
c.783C>G (p.Phe261Leu)
c.774C>G (p.Phe258Leu)
c.738C>G (p.Phe246Leu)
c.731C>G (p.Ser244Cys)
c.786C>G (p.Phe262Leu)
c.777C>G (p.Phe259Leu)
c.729C>G (p.Phe243Leu)
c.708C>G (p.Phe236Leu)
c.696C>G (p.Phe232Leu)
n.769C>G
17g.74695768G=CA2275147001CD300LF,RAB37c.674C= (p.Ser225=)
c.720C= (p.Phe240=)
c.72+24110G= (n.72+24110G=)
c.570C= (p.Phe190=)
c.705C= (p.Phe235=)
n.479+24110G=
c.*49C= (n.*49C=)
c.683C= (p.Ser228=)
c.719C= (p.Ser240=)
c.651C= (p.Phe217=)
n.846C=
c.806C= (p.Ser269=)
c.797C= (p.Ser266=)
c.761C= (p.Ser254=)
c.752C= (p.Ser251=)
c.728C= (p.Ser243=)
c.783C= (p.Phe261=)
c.774C= (p.Phe258=)
c.738C= (p.Phe246=)
c.731C= (p.Ser244=)
c.786C= (p.Phe262=)
c.777C= (p.Phe259=)
c.729C= (p.Phe243=)
c.708C= (p.Phe236=)
c.696C= (p.Phe232=)
n.769C=
17g.74695768G>TCA400935006CD300LF,RAB37c.674C>A (p.Ser225Tyr)
c.720C>A (p.Phe240Leu)
c.72+24110G>T (n.72+24110G>T)
c.570C>A (p.Phe190Leu)
c.705C>A (p.Phe235Leu)
n.479+24110G>T
c.*49C>A (n.*49C>A)
c.683C>A (p.Ser228Tyr)
c.719C>A (p.Ser240Tyr)
c.651C>A (p.Phe217Leu)
n.846C>A
c.806C>A (p.Ser269Tyr)
c.797C>A (p.Ser266Tyr)
c.761C>A (p.Ser254Tyr)
c.752C>A (p.Ser251Tyr)
c.728C>A (p.Ser243Tyr)
c.783C>A (p.Phe261Leu)
c.774C>A (p.Phe258Leu)
c.738C>A (p.Phe246Leu)
c.731C>A (p.Ser244Tyr)
c.786C>A (p.Phe262Leu)
c.777C>A (p.Phe259Leu)
c.729C>A (p.Phe243Leu)
c.708C>A (p.Phe236Leu)
c.696C>A (p.Phe232Leu)
n.769C>A
17g.74695769A>CCA400935009CD300LF,RAB37c.673T>G (p.Ser225Ala)
c.719T>G (p.Phe240Cys)
c.72+24111A>C (n.72+24111A>C)
c.569T>G (p.Phe190Cys)
c.704T>G (p.Phe235Cys)
n.479+24111A>C
c.*48T>G (n.*48T>G)
c.682T>G (p.Ser228Ala)
c.718T>G (p.Ser240Ala)
c.650T>G (p.Phe217Cys)
n.845T>G
c.805T>G (p.Ser269Ala)
c.796T>G (p.Ser266Ala)
c.760T>G (p.Ser254Ala)
c.751T>G (p.Ser251Ala)
c.727T>G (p.Ser243Ala)
c.782T>G (p.Phe261Cys)
c.773T>G (p.Phe258Cys)
c.737T>G (p.Phe246Cys)
c.730T>G (p.Ser244Ala)
c.785T>G (p.Phe262Cys)
c.776T>G (p.Phe259Cys)
c.728T>G (p.Phe243Cys)
c.707T>G (p.Phe236Cys)
c.695T>G (p.Phe232Cys)
n.768T>G
17g.74695769A>GCA400935008CD300LF,RAB37c.673T>C (p.Ser225Pro)
c.719T>C (p.Phe240Ser)
c.72+24111A>G (n.72+24111A>G)
c.569T>C (p.Phe190Ser)
c.704T>C (p.Phe235Ser)
n.479+24111A>G
c.*48T>C (n.*48T>C)
c.682T>C (p.Ser228Pro)
c.718T>C (p.Ser240Pro)
c.650T>C (p.Phe217Ser)
n.845T>C
c.805T>C (p.Ser269Pro)
c.796T>C (p.Ser266Pro)
c.760T>C (p.Ser254Pro)
c.751T>C (p.Ser251Pro)
c.727T>C (p.Ser243Pro)
c.782T>C (p.Phe261Ser)
c.773T>C (p.Phe258Ser)
c.737T>C (p.Phe246Ser)
c.730T>C (p.Ser244Pro)
c.785T>C (p.Phe262Ser)
c.776T>C (p.Phe259Ser)
c.728T>C (p.Phe243Ser)
c.707T>C (p.Phe236Ser)
c.695T>C (p.Phe232Ser)
n.768T>C
17g.74695769A>TCA400935007CD300LF,RAB37c.673T>A (p.Ser225Thr)
c.719T>A (p.Phe240Tyr)
c.72+24111A>T (n.72+24111A>T)
c.569T>A (p.Phe190Tyr)
c.704T>A (p.Phe235Tyr)
n.479+24111A>T
c.*48T>A (n.*48T>A)
c.682T>A (p.Ser228Thr)
c.718T>A (p.Ser240Thr)
c.650T>A (p.Phe217Tyr)
n.845T>A
c.805T>A (p.Ser269Thr)
c.796T>A (p.Ser266Thr)
c.760T>A (p.Ser254Thr)
c.751T>A (p.Ser251Thr)
c.727T>A (p.Ser243Thr)
c.782T>A (p.Phe261Tyr)
c.773T>A (p.Phe258Tyr)
c.737T>A (p.Phe246Tyr)
c.730T>A (p.Ser244Thr)
c.785T>A (p.Phe262Tyr)
c.776T>A (p.Phe259Tyr)
c.728T>A (p.Phe243Tyr)
c.707T>A (p.Phe236Tyr)
c.695T>A (p.Phe232Tyr)
n.768T>A
17g.74695770A>CCA400935010CD300LF,RAB37c.672T>G (p.Leu224=)
c.718T>G (p.Phe240Val)
c.72+24112A>C (n.72+24112A>C)
c.568T>G (p.Phe190Val)
c.703T>G (p.Phe235Val)
n.479+24112A>C
c.*47T>G (n.*47T>G)
c.681T>G (p.Leu227=)
c.717T>G (p.Leu239=)
c.649T>G (p.Phe217Val)
n.844T>G
c.804T>G (p.Leu268=)
c.795T>G (p.Leu265=)
c.759T>G (p.Leu253=)
c.750T>G (p.Leu250=)
c.726T>G (p.Leu242=)
c.781T>G (p.Phe261Val)
c.772T>G (p.Phe258Val)
c.736T>G (p.Phe246Val)
c.729T>G (p.Leu243=)
c.784T>G (p.Phe262Val)
c.775T>G (p.Phe259Val)
c.727T>G (p.Phe243Val)
c.706T>G (p.Phe236Val)
c.694T>G (p.Phe232Val)
n.767T>G
17g.74695770A>GCA400935011CD300LF,RAB37c.672T>C (p.Leu224=)
c.718T>C (p.Phe240Leu)
c.72+24112A>G (n.72+24112A>G)
c.568T>C (p.Phe190Leu)
c.703T>C (p.Phe235Leu)
n.479+24112A>G
c.*47T>C (n.*47T>C)
c.681T>C (p.Leu227=)
c.717T>C (p.Leu239=)
c.649T>C (p.Phe217Leu)
n.844T>C
c.804T>C (p.Leu268=)
c.795T>C (p.Leu265=)
c.759T>C (p.Leu253=)
c.750T>C (p.Leu250=)
c.726T>C (p.Leu242=)
c.781T>C (p.Phe261Leu)
c.772T>C (p.Phe258Leu)
c.736T>C (p.Phe246Leu)
c.729T>C (p.Leu243=)
c.784T>C (p.Phe262Leu)
c.775T>C (p.Phe259Leu)
c.727T>C (p.Phe243Leu)
c.706T>C (p.Phe236Leu)
c.694T>C (p.Phe232Leu)
n.767T>C
 gnomAD v4
17g.74695770A>TCA400935012CD300LF,RAB37c.672T>A (p.Leu224=)
c.718T>A (p.Phe240Ile)
c.72+24112A>T (n.72+24112A>T)
c.568T>A (p.Phe190Ile)
c.703T>A (p.Phe235Ile)
n.479+24112A>T
c.*47T>A (n.*47T>A)
c.681T>A (p.Leu227=)
c.717T>A (p.Leu239=)
c.649T>A (p.Phe217Ile)
n.844T>A
c.804T>A (p.Leu268=)
c.795T>A (p.Leu265=)
c.759T>A (p.Leu253=)
c.750T>A (p.Leu250=)
c.726T>A (p.Leu242=)
c.781T>A (p.Phe261Ile)
c.772T>A (p.Phe258Ile)
c.736T>A (p.Phe246Ile)
c.729T>A (p.Leu243=)
c.784T>A (p.Phe262Ile)
c.775T>A (p.Phe259Ile)
c.727T>A (p.Phe243Ile)
c.706T>A (p.Phe236Ile)
c.694T>A (p.Phe232Ile)
n.767T>A
17g.74695771A>CCA400935013CD300LF,RAB37c.671T>G (p.Leu224Arg)
c.717T>G (p.Ala239=)
c.72+24113A>C (n.72+24113A>C)
c.567T>G (p.Ala189=)
c.702T>G (p.Ala234=)
n.479+24113A>C
c.*46T>G (n.*46T>G)
c.680T>G (p.Leu227Arg)
c.716T>G (p.Leu239Arg)
c.648T>G (p.Ala216=)
n.843T>G
c.803T>G (p.Leu268Arg)
c.794T>G (p.Leu265Arg)
c.758T>G (p.Leu253Arg)
c.749T>G (p.Leu250Arg)
c.725T>G (p.Leu242Arg)
c.780T>G (p.Ala260=)
c.771T>G (p.Ala257=)
c.735T>G (p.Ala245=)
c.728T>G (p.Leu243Arg)
c.783T>G (p.Ala261=)
c.774T>G (p.Ala258=)
c.726T>G (p.Ala242=)
c.705T>G (p.Ala235=)
c.693T>G (p.Ala231=)
n.766T>G
 dbSNP gnomAD v4
17g.74695771A>GCA400935014CD300LF,RAB37c.671T>C (p.Leu224Pro)
c.717T>C (p.Ala239=)
c.72+24113A>G (n.72+24113A>G)
c.567T>C (p.Ala189=)
c.702T>C (p.Ala234=)
n.479+24113A>G
c.*46T>C (n.*46T>C)
c.680T>C (p.Leu227Pro)
c.716T>C (p.Leu239Pro)
c.648T>C (p.Ala216=)
n.843T>C
c.803T>C (p.Leu268Pro)
c.794T>C (p.Leu265Pro)
c.758T>C (p.Leu253Pro)
c.749T>C (p.Leu250Pro)
c.725T>C (p.Leu242Pro)
c.780T>C (p.Ala260=)
c.771T>C (p.Ala257=)
c.735T>C (p.Ala245=)
c.728T>C (p.Leu243Pro)
c.783T>C (p.Ala261=)
c.774T>C (p.Ala258=)
c.726T>C (p.Ala242=)
c.705T>C (p.Ala235=)
c.693T>C (p.Ala231=)
n.766T>C
17g.74695771A>TCA400935015CD300LF,RAB37c.671T>A (p.Leu224His)
c.717T>A (p.Ala239=)
c.72+24113A>T (n.72+24113A>T)
c.567T>A (p.Ala189=)
c.702T>A (p.Ala234=)
n.479+24113A>T
c.*46T>A (n.*46T>A)
c.680T>A (p.Leu227His)
c.716T>A (p.Leu239His)
c.648T>A (p.Ala216=)
n.843T>A
c.803T>A (p.Leu268His)
c.794T>A (p.Leu265His)
c.758T>A (p.Leu253His)
c.749T>A (p.Leu250His)
c.725T>A (p.Leu242His)
c.780T>A (p.Ala260=)
c.771T>A (p.Ala257=)
c.735T>A (p.Ala245=)
c.728T>A (p.Leu243His)
c.783T>A (p.Ala261=)
c.774T>A (p.Ala258=)
c.726T>A (p.Ala242=)
c.705T>A (p.Ala235=)
c.693T>A (p.Ala231=)
n.766T>A
 COSMIC COSMIC COSMIC
17g.74695772G>ACA400935016CD300LF,RAB37c.670C>T (p.Leu224Phe)
c.716C>T (p.Ala239Val)
c.72+24114G>A (n.72+24114G>A)
c.566C>T (p.Ala189Val)
c.701C>T (p.Ala234Val)
n.479+24114G>A
c.*45C>T (n.*45C>T)
c.679C>T (p.Leu227Phe)
c.715C>T (p.Leu239Phe)
c.647C>T (p.Ala216Val)
n.842C>T
c.802C>T (p.Leu268Phe)
c.793C>T (p.Leu265Phe)
c.757C>T (p.Leu253Phe)
c.748C>T (p.Leu250Phe)
c.724C>T (p.Leu242Phe)
c.779C>T (p.Ala260Val)
c.770C>T (p.Ala257Val)
c.734C>T (p.Ala245Val)
c.727C>T (p.Leu243Phe)
c.782C>T (p.Ala261Val)
c.773C>T (p.Ala258Val)
c.725C>T (p.Ala242Val)
c.704C>T (p.Ala235Val)
c.692C>T (p.Ala231Val)
n.765C>T
17g.74695772G>CCA400935017CD300LF,RAB37c.670C>G (p.Leu224Val)
c.716C>G (p.Ala239Gly)
c.72+24114G>C (n.72+24114G>C)
c.566C>G (p.Ala189Gly)
c.701C>G (p.Ala234Gly)
n.479+24114G>C
c.*45C>G (n.*45C>G)
c.679C>G (p.Leu227Val)
c.715C>G (p.Leu239Val)
c.647C>G (p.Ala216Gly)
n.842C>G
c.802C>G (p.Leu268Val)
c.793C>G (p.Leu265Val)
c.757C>G (p.Leu253Val)
c.748C>G (p.Leu250Val)
c.724C>G (p.Leu242Val)
c.779C>G (p.Ala260Gly)
c.770C>G (p.Ala257Gly)
c.734C>G (p.Ala245Gly)
c.727C>G (p.Leu243Val)
c.782C>G (p.Ala261Gly)
c.773C>G (p.Ala258Gly)
c.725C>G (p.Ala242Gly)
c.704C>G (p.Ala235Gly)
c.692C>G (p.Ala231Gly)
n.765C>G
17g.74695772G=CA2275147002CD300LF,RAB37c.670C= (p.Leu224=)
c.716C= (p.Ala239=)
c.72+24114G= (n.72+24114G=)
c.566C= (p.Ala189=)
c.701C= (p.Ala234=)
n.479+24114G=
c.*45C= (n.*45C=)
c.679C= (p.Leu227=)
c.715C= (p.Leu239=)
c.647C= (p.Ala216=)
n.842C=
c.802C= (p.Leu268=)
c.793C= (p.Leu265=)
c.757C= (p.Leu253=)
c.748C= (p.Leu250=)
c.724C= (p.Leu242=)
c.779C= (p.Ala260=)
c.770C= (p.Ala257=)
c.734C= (p.Ala245=)
c.727C= (p.Leu243=)
c.782C= (p.Ala261=)
c.773C= (p.Ala258=)
c.725C= (p.Ala242=)
c.704C= (p.Ala235=)
c.692C= (p.Ala231=)
n.765C=
17g.74695772G>TCA400935018CD300LF,RAB37c.670C>A (p.Leu224Ile)
c.716C>A (p.Ala239Asp)
c.72+24114G>T (n.72+24114G>T)
c.566C>A (p.Ala189Asp)
c.701C>A (p.Ala234Asp)
n.479+24114G>T
c.*45C>A (n.*45C>A)
c.679C>A (p.Leu227Ile)
c.715C>A (p.Leu239Ile)
c.647C>A (p.Ala216Asp)
n.842C>A
c.802C>A (p.Leu268Ile)
c.793C>A (p.Leu265Ile)
c.757C>A (p.Leu253Ile)
c.748C>A (p.Leu250Ile)
c.724C>A (p.Leu242Ile)
c.779C>A (p.Ala260Asp)
c.770C>A (p.Ala257Asp)
c.734C>A (p.Ala245Asp)
c.727C>A (p.Leu243Ile)
c.782C>A (p.Ala261Asp)
c.773C>A (p.Ala258Asp)
c.725C>A (p.Ala242Asp)
c.704C>A (p.Ala235Asp)
c.692C>A (p.Ala231Asp)
n.765C>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695773C>ACA400935019CD300LF,RAB37c.669G>T (p.Lys223Asn)
c.715G>T (p.Ala239Ser)
c.72+24115C>A (n.72+24115C>A)
c.565G>T (p.Ala189Ser)
c.700G>T (p.Ala234Ser)
n.479+24115C>A
c.*44G>T (n.*44G>T)
c.678G>T (p.Lys226Asn)
c.714G>T (p.Lys238Asn)
c.646G>T (p.Ala216Ser)
n.841G>T
c.801G>T (p.Lys267Asn)
c.792G>T (p.Lys264Asn)
c.756G>T (p.Lys252Asn)
c.747G>T (p.Lys249Asn)
c.723G>T (p.Lys241Asn)
c.778G>T (p.Ala260Ser)
c.769G>T (p.Ala257Ser)
c.733G>T (p.Ala245Ser)
c.726G>T (p.Lys242Asn)
c.781G>T (p.Ala261Ser)
c.772G>T (p.Ala258Ser)
c.724G>T (p.Ala242Ser)
c.703G>T (p.Ala235Ser)
c.691G>T (p.Ala231Ser)
n.764G>T
17g.74695773C=CA2275147003CD300LF,RAB37c.669G= (p.Lys223=)
c.715G= (p.Ala239=)
c.72+24115C= (n.72+24115C=)
c.565G= (p.Ala189=)
c.700G= (p.Ala234=)
n.479+24115C=
c.*44G= (n.*44G=)
c.678G= (p.Lys226=)
c.714G= (p.Lys238=)
c.646G= (p.Ala216=)
n.841G=
c.801G= (p.Lys267=)
c.792G= (p.Lys264=)
c.756G= (p.Lys252=)
c.747G= (p.Lys249=)
c.723G= (p.Lys241=)
c.778G= (p.Ala260=)
c.769G= (p.Ala257=)
c.733G= (p.Ala245=)
c.726G= (p.Lys242=)
c.781G= (p.Ala261=)
c.772G= (p.Ala258=)
c.724G= (p.Ala242=)
c.703G= (p.Ala235=)
c.691G= (p.Ala231=)
n.764G=
17g.74695773C>GCA400935020CD300LF,RAB37c.669G>C (p.Lys223Asn)
c.715G>C (p.Ala239Pro)
c.72+24115C>G (n.72+24115C>G)
c.565G>C (p.Ala189Pro)
c.700G>C (p.Ala234Pro)
n.479+24115C>G
c.*44G>C (n.*44G>C)
c.678G>C (p.Lys226Asn)
c.714G>C (p.Lys238Asn)
c.646G>C (p.Ala216Pro)
n.841G>C
c.801G>C (p.Lys267Asn)
c.792G>C (p.Lys264Asn)
c.756G>C (p.Lys252Asn)
c.747G>C (p.Lys249Asn)
c.723G>C (p.Lys241Asn)
c.778G>C (p.Ala260Pro)
c.769G>C (p.Ala257Pro)
c.733G>C (p.Ala245Pro)
c.726G>C (p.Lys242Asn)
c.781G>C (p.Ala261Pro)
c.772G>C (p.Ala258Pro)
c.724G>C (p.Ala242Pro)
c.703G>C (p.Ala235Pro)
c.691G>C (p.Ala231Pro)
n.764G>C
17g.74695773C>TCA8749755CD300LF,RAB37c.669G>A (p.Lys223=)
c.715G>A (p.Ala239Thr)
c.72+24115C>T (n.72+24115C>T)
c.565G>A (p.Ala189Thr)
c.700G>A (p.Ala234Thr)
n.479+24115C>T
c.*44G>A (n.*44G>A)
c.678G>A (p.Lys226=)
c.714G>A (p.Lys238=)
c.646G>A (p.Ala216Thr)
n.841G>A
c.801G>A (p.Lys267=)
c.792G>A (p.Lys264=)
c.756G>A (p.Lys252=)
c.747G>A (p.Lys249=)
c.723G>A (p.Lys241=)
c.778G>A (p.Ala260Thr)
c.769G>A (p.Ala257Thr)
c.733G>A (p.Ala245Thr)
c.726G>A (p.Lys242=)
c.781G>A (p.Ala261Thr)
c.772G>A (p.Ala258Thr)
c.724G>A (p.Ala242Thr)
c.703G>A (p.Ala235Thr)
c.691G>A (p.Ala231Thr)
n.764G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695774T>ACA400935023CD300LF,RAB37c.668A>T (p.Lys223Met)
c.714A>T (p.Glu238Asp)
c.72+24116T>A (n.72+24116T>A)
c.564A>T (p.Glu188Asp)
c.699A>T (p.Glu233Asp)
n.479+24116T>A
c.*43A>T (n.*43A>T)
c.677A>T (p.Lys226Met)
c.713A>T (p.Lys238Met)
c.645A>T (p.Glu215Asp)
n.840A>T
c.800A>T (p.Lys267Met)
c.791A>T (p.Lys264Met)
c.755A>T (p.Lys252Met)
c.746A>T (p.Lys249Met)
c.722A>T (p.Lys241Met)
c.777A>T (p.Glu259Asp)
c.768A>T (p.Glu256Asp)
c.732A>T (p.Glu244Asp)
c.725A>T (p.Lys242Met)
c.780A>T (p.Glu260Asp)
c.771A>T (p.Glu257Asp)
c.723A>T (p.Glu241Asp)
c.702A>T (p.Glu234Asp)
c.690A>T (p.Glu230Asp)
n.763A>T
17g.74695774T>CCA400935021CD300LF,RAB37c.668A>G (p.Lys223Arg)
c.714A>G (p.Glu238=)
c.72+24116T>C (n.72+24116T>C)
c.564A>G (p.Glu188=)
c.699A>G (p.Glu233=)
n.479+24116T>C
c.*43A>G (n.*43A>G)
c.677A>G (p.Lys226Arg)
c.713A>G (p.Lys238Arg)
c.645A>G (p.Glu215=)
n.840A>G
c.800A>G (p.Lys267Arg)
c.791A>G (p.Lys264Arg)
c.755A>G (p.Lys252Arg)
c.746A>G (p.Lys249Arg)
c.722A>G (p.Lys241Arg)
c.777A>G (p.Glu259=)
c.768A>G (p.Glu256=)
c.732A>G (p.Glu244=)
c.725A>G (p.Lys242Arg)
c.780A>G (p.Glu260=)
c.771A>G (p.Glu257=)
c.723A>G (p.Glu241=)
c.702A>G (p.Glu234=)
c.690A>G (p.Glu230=)
n.763A>G
17g.74695774T>GCA400935022CD300LF,RAB37c.668A>C (p.Lys223Thr)
c.714A>C (p.Glu238Asp)
c.72+24116T>G (n.72+24116T>G)
c.564A>C (p.Glu188Asp)
c.699A>C (p.Glu233Asp)
n.479+24116T>G
c.*43A>C (n.*43A>C)
c.677A>C (p.Lys226Thr)
c.713A>C (p.Lys238Thr)
c.645A>C (p.Glu215Asp)
n.840A>C
c.800A>C (p.Lys267Thr)
c.791A>C (p.Lys264Thr)
c.755A>C (p.Lys252Thr)
c.746A>C (p.Lys249Thr)
c.722A>C (p.Lys241Thr)
c.777A>C (p.Glu259Asp)
c.768A>C (p.Glu256Asp)
c.732A>C (p.Glu244Asp)
c.725A>C (p.Lys242Thr)
c.780A>C (p.Glu260Asp)
c.771A>C (p.Glu257Asp)
c.723A>C (p.Glu241Asp)
c.702A>C (p.Glu234Asp)
c.690A>C (p.Glu230Asp)
n.763A>C
17g.74695775T>ACA400935024CD300LF,RAB37c.667A>T (p.Lys223Ter)
c.713A>T (p.Glu238Val)
c.72+24117T>A (n.72+24117T>A)
c.563A>T (p.Glu188Val)
c.698A>T (p.Glu233Val)
n.479+24117T>A
c.*42A>T (n.*42A>T)
c.676A>T (p.Lys226Ter)
c.712A>T (p.Lys238Ter)
c.644A>T (p.Glu215Val)
n.839A>T
c.799A>T (p.Lys267Ter)
c.790A>T (p.Lys264Ter)
c.754A>T (p.Lys252Ter)
c.745A>T (p.Lys249Ter)
c.721A>T (p.Lys241Ter)
c.776A>T (p.Glu259Val)
c.767A>T (p.Glu256Val)
c.731A>T (p.Glu244Val)
c.724A>T (p.Lys242Ter)
c.779A>T (p.Glu260Val)
c.770A>T (p.Glu257Val)
c.722A>T (p.Glu241Val)
c.701A>T (p.Glu234Val)
c.689A>T (p.Glu230Val)
n.762A>T
 gnomAD v4
17g.74695775T>CCA400935025CD300LF,RAB37c.667A>G (p.Lys223Glu)
c.713A>G (p.Glu238Gly)
c.72+24117T>C (n.72+24117T>C)
c.563A>G (p.Glu188Gly)
c.698A>G (p.Glu233Gly)
n.479+24117T>C
c.*42A>G (n.*42A>G)
c.676A>G (p.Lys226Glu)
c.712A>G (p.Lys238Glu)
c.644A>G (p.Glu215Gly)
n.839A>G
c.799A>G (p.Lys267Glu)
c.790A>G (p.Lys264Glu)
c.754A>G (p.Lys252Glu)
c.745A>G (p.Lys249Glu)
c.721A>G (p.Lys241Glu)
c.776A>G (p.Glu259Gly)
c.767A>G (p.Glu256Gly)
c.731A>G (p.Glu244Gly)
c.724A>G (p.Lys242Glu)
c.779A>G (p.Glu260Gly)
c.770A>G (p.Glu257Gly)
c.722A>G (p.Glu241Gly)
c.701A>G (p.Glu234Gly)
c.689A>G (p.Glu230Gly)
n.762A>G
17g.74695775T>GCA400935026CD300LF,RAB37c.667A>C (p.Lys223Gln)
c.713A>C (p.Glu238Ala)
c.72+24117T>G (n.72+24117T>G)
c.563A>C (p.Glu188Ala)
c.698A>C (p.Glu233Ala)
n.479+24117T>G
c.*42A>C (n.*42A>C)
c.676A>C (p.Lys226Gln)
c.712A>C (p.Lys238Gln)
c.644A>C (p.Glu215Ala)
n.839A>C
c.799A>C (p.Lys267Gln)
c.790A>C (p.Lys264Gln)
c.754A>C (p.Lys252Gln)
c.745A>C (p.Lys249Gln)
c.721A>C (p.Lys241Gln)
c.776A>C (p.Glu259Ala)
c.767A>C (p.Glu256Ala)
c.731A>C (p.Glu244Ala)
c.724A>C (p.Lys242Gln)
c.779A>C (p.Glu260Ala)
c.770A>C (p.Glu257Ala)
c.722A>C (p.Glu241Ala)
c.701A>C (p.Glu234Ala)
c.689A>C (p.Glu230Ala)
n.762A>C
17g.74695776C>ACA8749756CD300LF,RAB37c.666G>T (p.Thr222=)
c.712G>T (p.Glu238Ter)
c.72+24118C>A (n.72+24118C>A)
c.562G>T (p.Glu188Ter)
c.697G>T (p.Glu233Ter)
n.479+24118C>A
c.*41G>T (n.*41G>T)
c.675G>T (p.Thr225=)
c.711G>T (p.Thr237=)
c.643G>T (p.Glu215Ter)
n.838G>T
c.798G>T (p.Thr266=)
c.789G>T (p.Thr263=)
c.753G>T (p.Thr251=)
c.744G>T (p.Thr248=)
c.720G>T (p.Thr240=)
c.775G>T (p.Glu259Ter)
c.766G>T (p.Glu256Ter)
c.730G>T (p.Glu244Ter)
c.723G>T (p.Thr241=)
c.778G>T (p.Glu260Ter)
c.769G>T (p.Glu257Ter)
c.721G>T (p.Glu241Ter)
c.700G>T (p.Glu234Ter)
c.688G>T (p.Glu230Ter)
n.761G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74695776C=CA2275147004CD300LF,RAB37c.666G= (p.Thr222=)
c.712G= (p.Glu238=)
c.72+24118C= (n.72+24118C=)
c.562G= (p.Glu188=)
c.697G= (p.Glu233=)
n.479+24118C=
c.*41G= (n.*41G=)
c.675G= (p.Thr225=)
c.711G= (p.Thr237=)
c.643G= (p.Glu215=)
n.838G=
c.798G= (p.Thr266=)
c.789G= (p.Thr263=)
c.753G= (p.Thr251=)
c.744G= (p.Thr248=)
c.720G= (p.Thr240=)
c.775G= (p.Glu259=)
c.766G= (p.Glu256=)
c.730G= (p.Glu244=)
c.723G= (p.Thr241=)
c.778G= (p.Glu260=)
c.769G= (p.Glu257=)
c.721G= (p.Glu241=)
c.700G= (p.Glu234=)
c.688G= (p.Glu230=)
n.761G=
17g.74695776C>GCA400935027CD300LF,RAB37c.666G>C (p.Thr222=)
c.712G>C (p.Glu238Gln)
c.72+24118C>G (n.72+24118C>G)
c.562G>C (p.Glu188Gln)
c.697G>C (p.Glu233Gln)
n.479+24118C>G
c.*41G>C (n.*41G>C)
c.675G>C (p.Thr225=)
c.711G>C (p.Thr237=)
c.643G>C (p.Glu215Gln)
n.838G>C
c.798G>C (p.Thr266=)
c.789G>C (p.Thr263=)
c.753G>C (p.Thr251=)
c.744G>C (p.Thr248=)
c.720G>C (p.Thr240=)
c.775G>C (p.Glu259Gln)
c.766G>C (p.Glu256Gln)
c.730G>C (p.Glu244Gln)
c.723G>C (p.Thr241=)
c.778G>C (p.Glu260Gln)
c.769G>C (p.Glu257Gln)
c.721G>C (p.Glu241Gln)
c.700G>C (p.Glu234Gln)
c.688G>C (p.Glu230Gln)
n.761G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695776C>TCA400935028CD300LF,RAB37c.666G>A (p.Thr222=)
c.712G>A (p.Glu238Lys)
c.72+24118C>T (n.72+24118C>T)
c.562G>A (p.Glu188Lys)
c.697G>A (p.Glu233Lys)
n.479+24118C>T
c.*41G>A (n.*41G>A)
c.675G>A (p.Thr225=)
c.711G>A (p.Thr237=)
c.643G>A (p.Glu215Lys)
n.838G>A
c.798G>A (p.Thr266=)
c.789G>A (p.Thr263=)
c.753G>A (p.Thr251=)
c.744G>A (p.Thr248=)
c.720G>A (p.Thr240=)
c.775G>A (p.Glu259Lys)
c.766G>A (p.Glu256Lys)
c.730G>A (p.Glu244Lys)
c.723G>A (p.Thr241=)
c.778G>A (p.Glu260Lys)
c.769G>A (p.Glu257Lys)
c.721G>A (p.Glu241Lys)
c.700G>A (p.Glu234Lys)
c.688G>A (p.Glu230Lys)
n.761G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74695777G>ACA8749757CD300LF,RAB37c.665C>T (p.Thr222Met)
c.711C>T (p.His237=)
c.72+24119G>A (n.72+24119G>A)
c.561C>T (p.His187=)
c.696C>T (p.His232=)
n.479+24119G>A
c.*40C>T (n.*40C>T)
c.674C>T (p.Thr225Met)
c.710C>T (p.Thr237Met)
c.642C>T (p.His214=)
n.837C>T
c.797C>T (p.Thr266Met)
c.788C>T (p.Thr263Met)
c.752C>T (p.Thr251Met)
c.743C>T (p.Thr248Met)
c.719C>T (p.Thr240Met)
c.774C>T (p.His258=)
c.765C>T (p.His255=)
c.729C>T (p.His243=)
c.722C>T (p.Thr241Met)
c.777C>T (p.His259=)
c.768C>T (p.His256=)
c.720C>T (p.His240=)
c.699C>T (p.His233=)
c.687C>T (p.His229=)
n.760C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695777G>CCA400935029CD300LF,RAB37c.665C>G (p.Thr222Arg)
c.711C>G (p.His237Gln)
c.72+24119G>C (n.72+24119G>C)
c.561C>G (p.His187Gln)
c.696C>G (p.His232Gln)
n.479+24119G>C
c.*40C>G (n.*40C>G)
c.674C>G (p.Thr225Arg)
c.710C>G (p.Thr237Arg)
c.642C>G (p.His214Gln)
n.837C>G
c.797C>G (p.Thr266Arg)
c.788C>G (p.Thr263Arg)
c.752C>G (p.Thr251Arg)
c.743C>G (p.Thr248Arg)
c.719C>G (p.Thr240Arg)
c.774C>G (p.His258Gln)
c.765C>G (p.His255Gln)
c.729C>G (p.His243Gln)
c.722C>G (p.Thr241Arg)
c.777C>G (p.His259Gln)
c.768C>G (p.His256Gln)
c.720C>G (p.His240Gln)
c.699C>G (p.His233Gln)
c.687C>G (p.His229Gln)
n.760C>G
17g.74695777G=CA2275147005CD300LF,RAB37c.665C= (p.Thr222=)
c.711C= (p.His237=)
c.72+24119G= (n.72+24119G=)
c.561C= (p.His187=)
c.696C= (p.His232=)
n.479+24119G=
c.*40C= (n.*40C=)
c.674C= (p.Thr225=)
c.710C= (p.Thr237=)
c.642C= (p.His214=)
n.837C=
c.797C= (p.Thr266=)
c.788C= (p.Thr263=)
c.752C= (p.Thr251=)
c.743C= (p.Thr248=)
c.719C= (p.Thr240=)
c.774C= (p.His258=)
c.765C= (p.His255=)
c.729C= (p.His243=)
c.722C= (p.Thr241=)
c.777C= (p.His259=)
c.768C= (p.His256=)
c.720C= (p.His240=)
c.699C= (p.His233=)
c.687C= (p.His229=)
n.760C=
17g.74695777G>TCA400935030CD300LF,RAB37c.665C>A (p.Thr222Lys)
c.711C>A (p.His237Gln)
c.72+24119G>T (n.72+24119G>T)
c.561C>A (p.His187Gln)
c.696C>A (p.His232Gln)
n.479+24119G>T
c.*40C>A (n.*40C>A)
c.674C>A (p.Thr225Lys)
c.710C>A (p.Thr237Lys)
c.642C>A (p.His214Gln)
n.837C>A
c.797C>A (p.Thr266Lys)
c.788C>A (p.Thr263Lys)
c.752C>A (p.Thr251Lys)
c.743C>A (p.Thr248Lys)
c.719C>A (p.Thr240Lys)
c.774C>A (p.His258Gln)
c.765C>A (p.His255Gln)
c.729C>A (p.His243Gln)
c.722C>A (p.Thr241Lys)
c.777C>A (p.His259Gln)
c.768C>A (p.His256Gln)
c.720C>A (p.His240Gln)
c.699C>A (p.His233Gln)
c.687C>A (p.His229Gln)
n.760C>A
 dbSNP gnomAD v3 gnomAD v4
17g.74695778T>ACA400935031CD300LF,RAB37c.664A>T (p.Thr222Ser)
c.710A>T (p.His237Leu)
c.72+24120T>A (n.72+24120T>A)
c.560A>T (p.His187Leu)
c.695A>T (p.His232Leu)
n.479+24120T>A
c.*39A>T (n.*39A>T)
c.673A>T (p.Thr225Ser)
c.709A>T (p.Thr237Ser)
c.641A>T (p.His214Leu)
n.836A>T
c.796A>T (p.Thr266Ser)
c.787A>T (p.Thr263Ser)
c.751A>T (p.Thr251Ser)
c.742A>T (p.Thr248Ser)
c.718A>T (p.Thr240Ser)
c.773A>T (p.His258Leu)
c.764A>T (p.His255Leu)
c.728A>T (p.His243Leu)
c.721A>T (p.Thr241Ser)
c.776A>T (p.His259Leu)
c.767A>T (p.His256Leu)
c.719A>T (p.His240Leu)
c.698A>T (p.His233Leu)
c.686A>T (p.His229Leu)
n.759A>T
17g.74695778T>CCA400935032CD300LF,RAB37c.664A>G (p.Thr222Ala)
c.710A>G (p.His237Arg)
c.72+24120T>C (n.72+24120T>C)
c.560A>G (p.His187Arg)
c.695A>G (p.His232Arg)
n.479+24120T>C
c.*39A>G (n.*39A>G)
c.673A>G (p.Thr225Ala)
c.709A>G (p.Thr237Ala)
c.641A>G (p.His214Arg)
n.836A>G
c.796A>G (p.Thr266Ala)
c.787A>G (p.Thr263Ala)
c.751A>G (p.Thr251Ala)
c.742A>G (p.Thr248Ala)
c.718A>G (p.Thr240Ala)
c.773A>G (p.His258Arg)
c.764A>G (p.His255Arg)
c.728A>G (p.His243Arg)
c.721A>G (p.Thr241Ala)
c.776A>G (p.His259Arg)
c.767A>G (p.His256Arg)
c.719A>G (p.His240Arg)
c.698A>G (p.His233Arg)
c.686A>G (p.His229Arg)
n.759A>G
17g.74695778T>GCA400935033CD300LF,RAB37c.664A>C (p.Thr222Pro)
c.710A>C (p.His237Pro)
c.72+24120T>G (n.72+24120T>G)
c.560A>C (p.His187Pro)
c.695A>C (p.His232Pro)
n.479+24120T>G
c.*39A>C (n.*39A>C)
c.673A>C (p.Thr225Pro)
c.709A>C (p.Thr237Pro)
c.641A>C (p.His214Pro)
n.836A>C
c.796A>C (p.Thr266Pro)
c.787A>C (p.Thr263Pro)
c.751A>C (p.Thr251Pro)
c.742A>C (p.Thr248Pro)
c.718A>C (p.Thr240Pro)
c.773A>C (p.His258Pro)
c.764A>C (p.His255Pro)
c.728A>C (p.His243Pro)
c.721A>C (p.Thr241Pro)
c.776A>C (p.His259Pro)
c.767A>C (p.His256Pro)
c.719A>C (p.His240Pro)
c.698A>C (p.His233Pro)
c.686A>C (p.His229Pro)
n.759A>C
17g.74695779G>ACA400935035CD300LF,RAB37c.663C>T (p.Thr221=)
c.709C>T (p.His237Tyr)
c.72+24121G>A (n.72+24121G>A)
c.559C>T (p.His187Tyr)
c.694C>T (p.His232Tyr)
n.479+24121G>A
c.*38C>T (n.*38C>T)
c.672C>T (p.Thr224=)
c.708C>T (p.Thr236=)
c.640C>T (p.His214Tyr)
n.835C>T
c.795C>T (p.Thr265=)
c.786C>T (p.Thr262=)
c.750C>T (p.Thr250=)
c.741C>T (p.Thr247=)
c.717C>T (p.Thr239=)
c.772C>T (p.His258Tyr)
c.763C>T (p.His255Tyr)
c.727C>T (p.His243Tyr)
c.720C>T (p.Thr240=)
c.775C>T (p.His259Tyr)
c.766C>T (p.His256Tyr)
c.718C>T (p.His240Tyr)
c.697C>T (p.His233Tyr)
c.685C>T (p.His229Tyr)
n.758C>T
 dbSNP gnomAD v3 gnomAD v4
17g.74695779G>CCA400935036CD300LF,RAB37c.663C>G (p.Thr221=)
c.709C>G (p.His237Asp)
c.72+24121G>C (n.72+24121G>C)
c.559C>G (p.His187Asp)
c.694C>G (p.His232Asp)
n.479+24121G>C
c.*38C>G (n.*38C>G)
c.672C>G (p.Thr224=)
c.708C>G (p.Thr236=)
c.640C>G (p.His214Asp)
n.835C>G
c.795C>G (p.Thr265=)
c.786C>G (p.Thr262=)
c.750C>G (p.Thr250=)
c.741C>G (p.Thr247=)
c.717C>G (p.Thr239=)
c.772C>G (p.His258Asp)
c.763C>G (p.His255Asp)
c.727C>G (p.His243Asp)
c.720C>G (p.Thr240=)
c.775C>G (p.His259Asp)
c.766C>G (p.His256Asp)
c.718C>G (p.His240Asp)
c.697C>G (p.His233Asp)
c.685C>G (p.His229Asp)
n.758C>G
17g.74695779G=CA2275147006CD300LF,RAB37c.663C= (p.Thr221=)
c.709C= (p.His237=)
c.72+24121G= (n.72+24121G=)
c.559C= (p.His187=)
c.694C= (p.His232=)
n.479+24121G=
c.*38C= (n.*38C=)
c.672C= (p.Thr224=)
c.708C= (p.Thr236=)
c.640C= (p.His214=)
n.835C=
c.795C= (p.Thr265=)
c.786C= (p.Thr262=)
c.750C= (p.Thr250=)
c.741C= (p.Thr247=)
c.717C= (p.Thr239=)
c.772C= (p.His258=)
c.763C= (p.His255=)
c.727C= (p.His243=)
c.720C= (p.Thr240=)
c.775C= (p.His259=)
c.766C= (p.His256=)
c.718C= (p.His240=)
c.697C= (p.His233=)
c.685C= (p.His229=)
n.758C=
17g.74695779G>TCA400935034CD300LF,RAB37c.663C>A (p.Thr221=)
c.709C>A (p.His237Asn)
c.72+24121G>T (n.72+24121G>T)
c.559C>A (p.His187Asn)
c.694C>A (p.His232Asn)
n.479+24121G>T
c.*38C>A (n.*38C>A)
c.672C>A (p.Thr224=)
c.708C>A (p.Thr236=)
c.640C>A (p.His214Asn)
n.835C>A
c.795C>A (p.Thr265=)
c.786C>A (p.Thr262=)
c.750C>A (p.Thr250=)
c.741C>A (p.Thr247=)
c.717C>A (p.Thr239=)
c.772C>A (p.His258Asn)
c.763C>A (p.His255Asn)
c.727C>A (p.His243Asn)
c.720C>A (p.Thr240=)
c.775C>A (p.His259Asn)
c.766C>A (p.His256Asn)
c.718C>A (p.His240Asn)
c.697C>A (p.His233Asn)
c.685C>A (p.His229Asn)
n.758C>A
17g.74695780G>ACA400935037CD300LF,RAB37c.662C>T (p.Thr221Ile)
c.708C>T (p.Tyr236=)
c.72+24122G>A (n.72+24122G>A)
c.558C>T (p.Tyr186=)
c.693C>T (p.Tyr231=)
n.479+24122G>A
c.*37C>T (n.*37C>T)
c.671C>T (p.Thr224Ile)
c.707C>T (p.Thr236Ile)
c.639C>T (p.Tyr213=)
n.834C>T
c.794C>T (p.Thr265Ile)
c.785C>T (p.Thr262Ile)
c.749C>T (p.Thr250Ile)
c.740C>T (p.Thr247Ile)
c.716C>T (p.Thr239Ile)
c.771C>T (p.Tyr257=)
c.762C>T (p.Tyr254=)
c.726C>T (p.Tyr242=)
c.719C>T (p.Thr240Ile)
c.774C>T (p.Tyr258=)
c.765C>T (p.Tyr255=)
c.717C>T (p.Tyr239=)
c.696C>T (p.Tyr232=)
c.684C>T (p.Tyr228=)
n.757C>T
 gnomAD v4
17g.74695780G>CCA400935038CD300LF,RAB37c.662C>G (p.Thr221Ser)
c.708C>G (p.Tyr236Ter)
c.72+24122G>C (n.72+24122G>C)
c.558C>G (p.Tyr186Ter)
c.693C>G (p.Tyr231Ter)
n.479+24122G>C
c.*37C>G (n.*37C>G)
c.671C>G (p.Thr224Ser)
c.707C>G (p.Thr236Ser)
c.639C>G (p.Tyr213Ter)
n.834C>G
c.794C>G (p.Thr265Ser)
c.785C>G (p.Thr262Ser)
c.749C>G (p.Thr250Ser)
c.740C>G (p.Thr247Ser)
c.716C>G (p.Thr239Ser)
c.771C>G (p.Tyr257Ter)
c.762C>G (p.Tyr254Ter)
c.726C>G (p.Tyr242Ter)
c.719C>G (p.Thr240Ser)
c.774C>G (p.Tyr258Ter)
c.765C>G (p.Tyr255Ter)
c.717C>G (p.Tyr239Ter)
c.696C>G (p.Tyr232Ter)
c.684C>G (p.Tyr228Ter)
n.757C>G
17g.74695780G>TCA400935039CD300LF,RAB37c.662C>A (p.Thr221Asn)
c.708C>A (p.Tyr236Ter)
c.72+24122G>T (n.72+24122G>T)
c.558C>A (p.Tyr186Ter)
c.693C>A (p.Tyr231Ter)
n.479+24122G>T
c.*37C>A (n.*37C>A)
c.671C>A (p.Thr224Asn)
c.707C>A (p.Thr236Asn)
c.639C>A (p.Tyr213Ter)
n.834C>A
c.794C>A (p.Thr265Asn)
c.785C>A (p.Thr262Asn)
c.749C>A (p.Thr250Asn)
c.740C>A (p.Thr247Asn)
c.716C>A (p.Thr239Asn)
c.771C>A (p.Tyr257Ter)
c.762C>A (p.Tyr254Ter)
c.726C>A (p.Tyr242Ter)
c.719C>A (p.Thr240Asn)
c.774C>A (p.Tyr258Ter)
c.765C>A (p.Tyr255Ter)
c.717C>A (p.Tyr239Ter)
c.696C>A (p.Tyr232Ter)
c.684C>A (p.Tyr228Ter)
n.757C>A
17g.74695781T>ACA400935040CD300LF,RAB37c.661A>T (p.Thr221Ser)
c.707A>T (p.Tyr236Phe)
c.72+24123T>A (n.72+24123T>A)
c.557A>T (p.Tyr186Phe)
c.692A>T (p.Tyr231Phe)
n.479+24123T>A
c.*36A>T (n.*36A>T)
c.670A>T (p.Thr224Ser)
c.706A>T (p.Thr236Ser)
c.638A>T (p.Tyr213Phe)
n.833A>T
c.793A>T (p.Thr265Ser)
c.784A>T (p.Thr262Ser)
c.748A>T (p.Thr250Ser)
c.739A>T (p.Thr247Ser)
c.715A>T (p.Thr239Ser)
c.770A>T (p.Tyr257Phe)
c.761A>T (p.Tyr254Phe)
c.725A>T (p.Tyr242Phe)
c.718A>T (p.Thr240Ser)
c.773A>T (p.Tyr258Phe)
c.764A>T (p.Tyr255Phe)
c.716A>T (p.Tyr239Phe)
c.695A>T (p.Tyr232Phe)
c.683A>T (p.Tyr228Phe)
n.756A>T
17g.74695781T>CCA8749758CD300LF,RAB37c.661A>G (p.Thr221Ala)
c.707A>G (p.Tyr236Cys)
c.72+24123T>C (n.72+24123T>C)
c.557A>G (p.Tyr186Cys)
c.692A>G (p.Tyr231Cys)
n.479+24123T>C
c.*36A>G (n.*36A>G)
c.670A>G (p.Thr224Ala)
c.706A>G (p.Thr236Ala)
c.638A>G (p.Tyr213Cys)
n.833A>G
c.793A>G (p.Thr265Ala)
c.784A>G (p.Thr262Ala)
c.748A>G (p.Thr250Ala)
c.739A>G (p.Thr247Ala)
c.715A>G (p.Thr239Ala)
c.770A>G (p.Tyr257Cys)
c.761A>G (p.Tyr254Cys)
c.725A>G (p.Tyr242Cys)
c.718A>G (p.Thr240Ala)
c.773A>G (p.Tyr258Cys)
c.764A>G (p.Tyr255Cys)
c.716A>G (p.Tyr239Cys)
c.695A>G (p.Tyr232Cys)
c.683A>G (p.Tyr228Cys)
n.756A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.74695781T>GCA400935041CD300LF,RAB37c.661A>C (p.Thr221Pro)
c.707A>C (p.Tyr236Ser)
c.72+24123T>G (n.72+24123T>G)
c.557A>C (p.Tyr186Ser)
c.692A>C (p.Tyr231Ser)
n.479+24123T>G
c.*36A>C (n.*36A>C)
c.670A>C (p.Thr224Pro)
c.706A>C (p.Thr236Pro)
c.638A>C (p.Tyr213Ser)
n.833A>C
c.793A>C (p.Thr265Pro)
c.784A>C (p.Thr262Pro)
c.748A>C (p.Thr250Pro)
c.739A>C (p.Thr247Pro)
c.715A>C (p.Thr239Pro)
c.770A>C (p.Tyr257Ser)
c.761A>C (p.Tyr254Ser)
c.725A>C (p.Tyr242Ser)
c.718A>C (p.Thr240Pro)
c.773A>C (p.Tyr258Ser)
c.764A>C (p.Tyr255Ser)
c.716A>C (p.Tyr239Ser)
c.695A>C (p.Tyr232Ser)
c.683A>C (p.Tyr228Ser)
n.756A>C
17g.74695781T=CA2275147007CD300LF,RAB37c.661A= (p.Thr221=)
c.707A= (p.Tyr236=)
c.72+24123T= (n.72+24123T=)
c.557A= (p.Tyr186=)
c.692A= (p.Tyr231=)
n.479+24123T=
c.*36A= (n.*36A=)
c.670A= (p.Thr224=)
c.706A= (p.Thr236=)
c.638A= (p.Tyr213=)
n.833A=
c.793A= (p.Thr265=)
c.784A= (p.Thr262=)
c.748A= (p.Thr250=)
c.739A= (p.Thr247=)
c.715A= (p.Thr239=)
c.770A= (p.Tyr257=)
c.761A= (p.Tyr254=)
c.725A= (p.Tyr242=)
c.718A= (p.Thr240=)
c.773A= (p.Tyr258=)
c.764A= (p.Tyr255=)
c.716A= (p.Tyr239=)
c.695A= (p.Tyr232=)
c.683A= (p.Tyr228=)
n.756A=
17g.74695782A>CCA400935044CD300LF,RAB37c.660T>G (p.Ala220=)
c.706T>G (p.Tyr236Asp)
c.72+24124A>C (n.72+24124A>C)
c.556T>G (p.Tyr186Asp)
c.691T>G (p.Tyr231Asp)
n.479+24124A>C
c.*35T>G (n.*35T>G)
c.669T>G (p.Ala223=)
c.705T>G (p.Ala235=)
c.637T>G (p.Tyr213Asp)
n.832T>G
c.792T>G (p.Ala264=)
c.783T>G (p.Ala261=)
c.747T>G (p.Ala249=)
c.738T>G (p.Ala246=)
c.714T>G (p.Ala238=)
c.769T>G (p.Tyr257Asp)
c.760T>G (p.Tyr254Asp)
c.724T>G (p.Tyr242Asp)
c.717T>G (p.Ala239=)
c.772T>G (p.Tyr258Asp)
c.763T>G (p.Tyr255Asp)
c.715T>G (p.Tyr239Asp)
c.694T>G (p.Tyr232Asp)
c.682T>G (p.Tyr228Asp)
n.755T>G
17g.74695782A>GCA400935042CD300LF,RAB37c.660T>C (p.Ala220=)
c.706T>C (p.Tyr236His)
c.72+24124A>G (n.72+24124A>G)
c.556T>C (p.Tyr186His)
c.691T>C (p.Tyr231His)
n.479+24124A>G
c.*35T>C (n.*35T>C)
c.669T>C (p.Ala223=)
c.705T>C (p.Ala235=)
c.637T>C (p.Tyr213His)
n.832T>C
c.792T>C (p.Ala264=)
c.783T>C (p.Ala261=)
c.747T>C (p.Ala249=)
c.738T>C (p.Ala246=)
c.714T>C (p.Ala238=)
c.769T>C (p.Tyr257His)
c.760T>C (p.Tyr254His)
c.724T>C (p.Tyr242His)
c.717T>C (p.Ala239=)
c.772T>C (p.Tyr258His)
c.763T>C (p.Tyr255His)
c.715T>C (p.Tyr239His)
c.694T>C (p.Tyr232His)
c.682T>C (p.Tyr228His)
n.755T>C
17g.74695782A>TCA400935043CD300LF,RAB37c.660T>A (p.Ala220=)
c.706T>A (p.Tyr236Asn)
c.72+24124A>T (n.72+24124A>T)
c.556T>A (p.Tyr186Asn)
c.691T>A (p.Tyr231Asn)
n.479+24124A>T
c.*35T>A (n.*35T>A)
c.669T>A (p.Ala223=)
c.705T>A (p.Ala235=)
c.637T>A (p.Tyr213Asn)
n.832T>A
c.792T>A (p.Ala264=)
c.783T>A (p.Ala261=)
c.747T>A (p.Ala249=)
c.738T>A (p.Ala246=)
c.714T>A (p.Ala238=)
c.769T>A (p.Tyr257Asn)
c.760T>A (p.Tyr254Asn)
c.724T>A (p.Tyr242Asn)
c.717T>A (p.Ala239=)
c.772T>A (p.Tyr258Asn)
c.763T>A (p.Tyr255Asn)
c.715T>A (p.Tyr239Asn)
c.694T>A (p.Tyr232Asn)
c.682T>A (p.Tyr228Asn)
n.755T>A
17g.74695783G>ACA400935045CD300LF,RAB37c.659C>T (p.Ala220Val)
c.705C>T (p.Gly235=)
c.72+24125G>A (n.72+24125G>A)
c.555C>T (p.Gly185=)
c.690C>T (p.Gly230=)
n.479+24125G>A
c.*34C>T (n.*34C>T)
c.668C>T (p.Ala223Val)
c.704C>T (p.Ala235Val)
c.636C>T (p.Gly212=)
n.831C>T
c.791C>T (p.Ala264Val)
c.782C>T (p.Ala261Val)
c.746C>T (p.Ala249Val)
c.737C>T (p.Ala246Val)
c.713C>T (p.Ala238Val)
c.768C>T (p.Gly256=)
c.759C>T (p.Gly253=)
c.723C>T (p.Gly241=)
c.716C>T (p.Ala239Val)
c.771C>T (p.Gly257=)
c.762C>T (p.Gly254=)
c.714C>T (p.Gly238=)
c.693C>T (p.Gly231=)
c.681C>T (p.Gly227=)
n.754C>T
 dbSNP gnomAD v2 gnomAD v4
17g.74695783G>CCA400935046CD300LF,RAB37c.659C>G (p.Ala220Gly)
c.705C>G (p.Gly235=)
c.72+24125G>C (n.72+24125G>C)
c.555C>G (p.Gly185=)
c.690C>G (p.Gly230=)
n.479+24125G>C
c.*34C>G (n.*34C>G)
c.668C>G (p.Ala223Gly)
c.704C>G (p.Ala235Gly)
c.636C>G (p.Gly212=)
n.831C>G
c.791C>G (p.Ala264Gly)
c.782C>G (p.Ala261Gly)
c.746C>G (p.Ala249Gly)
c.737C>G (p.Ala246Gly)
c.713C>G (p.Ala238Gly)
c.768C>G (p.Gly256=)
c.759C>G (p.Gly253=)
c.723C>G (p.Gly241=)
c.716C>G (p.Ala239Gly)
c.771C>G (p.Gly257=)
c.762C>G (p.Gly254=)
c.714C>G (p.Gly238=)
c.693C>G (p.Gly231=)
c.681C>G (p.Gly227=)
n.754C>G
17g.74695783G=CA2275147008CD300LF,RAB37c.659C= (p.Ala220=)
c.705C= (p.Gly235=)
c.72+24125G= (n.72+24125G=)
c.555C= (p.Gly185=)
c.690C= (p.Gly230=)
n.479+24125G=
c.*34C= (n.*34C=)
c.668C= (p.Ala223=)
c.704C= (p.Ala235=)
c.636C= (p.Gly212=)
n.831C=
c.791C= (p.Ala264=)
c.782C= (p.Ala261=)
c.746C= (p.Ala249=)
c.737C= (p.Ala246=)
c.713C= (p.Ala238=)
c.768C= (p.Gly256=)
c.759C= (p.Gly253=)
c.723C= (p.Gly241=)
c.716C= (p.Ala239=)
c.771C= (p.Gly257=)
c.762C= (p.Gly254=)
c.714C= (p.Gly238=)
c.693C= (p.Gly231=)
c.681C= (p.Gly227=)
n.754C=
17g.74695783G>TCA400935047CD300LF,RAB37c.659C>A (p.Ala220Asp)
c.705C>A (p.Gly235=)
c.72+24125G>T (n.72+24125G>T)
c.555C>A (p.Gly185=)
c.690C>A (p.Gly230=)
n.479+24125G>T
c.*34C>A (n.*34C>A)
c.668C>A (p.Ala223Asp)
c.704C>A (p.Ala235Asp)
c.636C>A (p.Gly212=)
n.831C>A
c.791C>A (p.Ala264Asp)
c.782C>A (p.Ala261Asp)
c.746C>A (p.Ala249Asp)
c.737C>A (p.Ala246Asp)
c.713C>A (p.Ala238Asp)
c.768C>A (p.Gly256=)
c.759C>A (p.Gly253=)
c.723C>A (p.Gly241=)
c.716C>A (p.Ala239Asp)
c.771C>A (p.Gly257=)
c.762C>A (p.Gly254=)
c.714C>A (p.Gly238=)
c.693C>A (p.Gly231=)
c.681C>A (p.Gly227=)
n.754C>A
17g.74695784C>ACA400935048CD300LF,RAB37c.658G>T (p.Ala220Ser)
c.704G>T (p.Gly235Val)
c.72+24126C>A (n.72+24126C>A)
c.554G>T (p.Gly185Val)
c.689G>T (p.Gly230Val)
n.479+24126C>A
c.*33G>T (n.*33G>T)
c.667G>T (p.Ala223Ser)
c.703G>T (p.Ala235Ser)
c.635G>T (p.Gly212Val)
n.830G>T
c.790G>T (p.Ala264Ser)
c.781G>T (p.Ala261Ser)
c.745G>T (p.Ala249Ser)
c.736G>T (p.Ala246Ser)
c.712G>T (p.Ala238Ser)
c.767G>T (p.Gly256Val)
c.758G>T (p.Gly253Val)
c.722G>T (p.Gly241Val)
c.715G>T (p.Ala239Ser)
c.770G>T (p.Gly257Val)
c.761G>T (p.Gly254Val)
c.713G>T (p.Gly238Val)
c.692G>T (p.Gly231Val)
c.680G>T (p.Gly227Val)
n.753G>T
 dbSNP
17g.74695784C=CA2275147009CD300LF,RAB37c.658G= (p.Ala220=)
c.704G= (p.Gly235=)
c.72+24126C= (n.72+24126C=)
c.554G= (p.Gly185=)
c.689G= (p.Gly230=)
n.479+24126C=
c.*33G= (n.*33G=)
c.667G= (p.Ala223=)
c.703G= (p.Ala235=)
c.635G= (p.Gly212=)
n.830G=
c.790G= (p.Ala264=)
c.781G= (p.Ala261=)
c.745G= (p.Ala249=)
c.736G= (p.Ala246=)
c.712G= (p.Ala238=)
c.767G= (p.Gly256=)
c.758G= (p.Gly253=)
c.722G= (p.Gly241=)
c.715G= (p.Ala239=)
c.770G= (p.Gly257=)
c.761G= (p.Gly254=)
c.713G= (p.Gly238=)
c.692G= (p.Gly231=)
c.680G= (p.Gly227=)
n.753G=
17g.74695784C>GCA400935049CD300LF,RAB37c.658G>C (p.Ala220Pro)
c.704G>C (p.Gly235Ala)
c.72+24126C>G (n.72+24126C>G)
c.554G>C (p.Gly185Ala)
c.689G>C (p.Gly230Ala)
n.479+24126C>G
c.*33G>C (n.*33G>C)
c.667G>C (p.Ala223Pro)
c.703G>C (p.Ala235Pro)
c.635G>C (p.Gly212Ala)
n.830G>C
c.790G>C (p.Ala264Pro)
c.781G>C (p.Ala261Pro)
c.745G>C (p.Ala249Pro)
c.736G>C (p.Ala246Pro)
c.712G>C (p.Ala238Pro)
c.767G>C (p.Gly256Ala)
c.758G>C (p.Gly253Ala)
c.722G>C (p.Gly241Ala)
c.715G>C (p.Ala239Pro)
c.770G>C (p.Gly257Ala)
c.761G>C (p.Gly254Ala)
c.713G>C (p.Gly238Ala)
c.692G>C (p.Gly231Ala)
c.680G>C (p.Gly227Ala)
n.753G>C
17g.74695784C>TCA400935050CD300LF,RAB37c.658G>A (p.Ala220Thr)
c.704G>A (p.Gly235Asp)
c.72+24126C>T (n.72+24126C>T)
c.554G>A (p.Gly185Asp)
c.689G>A (p.Gly230Asp)
n.479+24126C>T
c.*33G>A (n.*33G>A)
c.667G>A (p.Ala223Thr)
c.703G>A (p.Ala235Thr)
c.635G>A (p.Gly212Asp)
n.830G>A
c.790G>A (p.Ala264Thr)
c.781G>A (p.Ala261Thr)
c.745G>A (p.Ala249Thr)
c.736G>A (p.Ala246Thr)
c.712G>A (p.Ala238Thr)
c.767G>A (p.Gly256Asp)
c.758G>A (p.Gly253Asp)
c.722G>A (p.Gly241Asp)
c.715G>A (p.Ala239Thr)
c.770G>A (p.Gly257Asp)
c.761G>A (p.Gly254Asp)
c.713G>A (p.Gly238Asp)
c.692G>A (p.Gly231Asp)
c.680G>A (p.Gly227Asp)
n.753G>A
 gnomAD v4
17g.74695785C>ACA400935051CD300LF,RAB37c.657G>T (p.Lys219Asn)
c.703G>T (p.Gly235Cys)
c.72+24127C>A (n.72+24127C>A)
c.553G>T (p.Gly185Cys)
c.688G>T (p.Gly230Cys)
n.479+24127C>A
c.*32G>T (n.*32G>T)
c.666G>T (p.Lys222Asn)
c.702G>T (p.Lys234Asn)
c.634G>T (p.Gly212Cys)
n.829G>T
c.789G>T (p.Lys263Asn)
c.780G>T (p.Lys260Asn)
c.744G>T (p.Lys248Asn)
c.735G>T (p.Lys245Asn)
c.711G>T (p.Lys237Asn)
c.766G>T (p.Gly256Cys)
c.757G>T (p.Gly253Cys)
c.721G>T (p.Gly241Cys)
c.714G>T (p.Lys238Asn)
c.769G>T (p.Gly257Cys)
c.760G>T (p.Gly254Cys)
c.712G>T (p.Gly238Cys)
c.691G>T (p.Gly231Cys)
c.679G>T (p.Gly227Cys)
n.752G>T
17g.74695785C>GCA400935053CD300LF,RAB37c.657G>C (p.Lys219Asn)
c.703G>C (p.Gly235Arg)
c.72+24127C>G (n.72+24127C>G)
c.553G>C (p.Gly185Arg)
c.688G>C (p.Gly230Arg)
n.479+24127C>G
c.*32G>C (n.*32G>C)
c.666G>C (p.Lys222Asn)
c.702G>C (p.Lys234Asn)
c.634G>C (p.Gly212Arg)
n.829G>C
c.789G>C (p.Lys263Asn)
c.780G>C (p.Lys260Asn)
c.744G>C (p.Lys248Asn)
c.735G>C (p.Lys245Asn)
c.711G>C (p.Lys237Asn)
c.766G>C (p.Gly256Arg)
c.757G>C (p.Gly253Arg)
c.721G>C (p.Gly241Arg)
c.714G>C (p.Lys238Asn)
c.769G>C (p.Gly257Arg)
c.760G>C (p.Gly254Arg)
c.712G>C (p.Gly238Arg)
c.691G>C (p.Gly231Arg)
c.679G>C (p.Gly227Arg)
n.752G>C
17g.74695785C>TCA400935052CD300LF,RAB37c.657G>A (p.Lys219=)
c.703G>A (p.Gly235Ser)
c.72+24127C>T (n.72+24127C>T)
c.553G>A (p.Gly185Ser)
c.688G>A (p.Gly230Ser)
n.479+24127C>T
c.*32G>A (n.*32G>A)
c.666G>A (p.Lys222=)
c.702G>A (p.Lys234=)
c.634G>A (p.Gly212Ser)
n.829G>A
c.789G>A (p.Lys263=)
c.780G>A (p.Lys260=)
c.744G>A (p.Lys248=)
c.735G>A (p.Lys245=)
c.711G>A (p.Lys237=)
c.766G>A (p.Gly256Ser)
c.757G>A (p.Gly253Ser)
c.721G>A (p.Gly241Ser)
c.714G>A (p.Lys238=)
c.769G>A (p.Gly257Ser)
c.760G>A (p.Gly254Ser)
c.712G>A (p.Gly238Ser)
c.691G>A (p.Gly231Ser)
c.679G>A (p.Gly227Ser)
n.752G>A
 gnomAD v4
17g.74695785_74695786delinsCTCA2275147010CD300LF,RAB37c.656_657delinsAG (p.Lys219=)
c.702_703delinsAG (p.Lys234=)
c.72+24127_72+24128delinsCT (n.72+24127_72+24128delinsCT)
c.552_553delinsAG (p.Lys184=)
c.687_688delinsAG (p.Lys229=)
n.479+24127_479+24128delinsCT
c.*31_*32delinsAG (n.*31_*32delinsAG)
c.665_666delinsAG (p.Lys222=)
c.701_702delinsAG (p.Lys234=)
c.633_634delinsAG (p.Lys211=)
n.828_829delinsAG
c.788_789delinsAG (p.Lys263=)
c.779_780delinsAG (p.Lys260=)
c.743_744delinsAG (p.Lys248=)
c.734_735delinsAG (p.Lys245=)
c.710_711delinsAG (p.Lys237=)
c.765_766delinsAG (p.Lys255=)
c.756_757delinsAG (p.Lys252=)
c.720_721delinsAG (p.Lys240=)
c.713_714delinsAG (p.Lys238=)
c.768_769delinsAG (p.Lys256=)
c.759_760delinsAG (p.Lys253=)
c.711_712delinsAG (p.Lys237=)
c.690_691delinsAG (p.Lys230=)
c.678_679delinsAG (p.Lys226=)
n.751_752delinsAG
17g.74695786T>ACA400935054CD300LF,RAB37c.656A>T (p.Lys219Met)
c.702A>T (p.Lys234Asn)
c.72+24128T>A (n.72+24128T>A)
c.552A>T (p.Lys184Asn)
c.687A>T (p.Lys229Asn)
n.479+24128T>A
c.*31A>T (n.*31A>T)
c.665A>T (p.Lys222Met)
c.701A>T (p.Lys234Met)
c.633A>T (p.Lys211Asn)
n.828A>T
c.788A>T (p.Lys263Met)
c.779A>T (p.Lys260Met)
c.743A>T (p.Lys248Met)
c.734A>T (p.Lys245Met)
c.710A>T (p.Lys237Met)
c.765A>T (p.Lys255Asn)
c.756A>T (p.Lys252Asn)
c.720A>T (p.Lys240Asn)
c.713A>T (p.Lys238Met)
c.768A>T (p.Lys256Asn)
c.759A>T (p.Lys253Asn)
c.711A>T (p.Lys237Asn)
c.690A>T (p.Lys230Asn)
c.678A>T (p.Lys226Asn)
n.751A>T
17g.74695786T>CCA400935055CD300LF,RAB37c.656A>G (p.Lys219Arg)
c.702A>G (p.Lys234=)
c.72+24128T>C (n.72+24128T>C)
c.552A>G (p.Lys184=)
c.687A>G (p.Lys229=)
n.479+24128T>C
c.*31A>G (n.*31A>G)
c.665A>G (p.Lys222Arg)
c.701A>G (p.Lys234Arg)
c.633A>G (p.Lys211=)
n.828A>G
c.788A>G (p.Lys263Arg)
c.779A>G (p.Lys260Arg)
c.743A>G (p.Lys248Arg)
c.734A>G (p.Lys245Arg)
c.710A>G (p.Lys237Arg)
c.765A>G (p.Lys255=)
c.756A>G (p.Lys252=)
c.720A>G (p.Lys240=)
c.713A>G (p.Lys238Arg)
c.768A>G (p.Lys256=)
c.759A>G (p.Lys253=)
c.711A>G (p.Lys237=)
c.690A>G (p.Lys230=)
c.678A>G (p.Lys226=)
n.751A>G
17g.74695786T>GCA400935056CD300LF,RAB37c.656A>C (p.Lys219Thr)
c.702A>C (p.Lys234Asn)
c.72+24128T>G (n.72+24128T>G)
c.552A>C (p.Lys184Asn)
c.687A>C (p.Lys229Asn)
n.479+24128T>G
c.*31A>C (n.*31A>C)
c.665A>C (p.Lys222Thr)
c.701A>C (p.Lys234Thr)
c.633A>C (p.Lys211Asn)
n.828A>C
c.788A>C (p.Lys263Thr)
c.779A>C (p.Lys260Thr)
c.743A>C (p.Lys248Thr)
c.734A>C (p.Lys245Thr)
c.710A>C (p.Lys237Thr)
c.765A>C (p.Lys255Asn)
c.756A>C (p.Lys252Asn)
c.720A>C (p.Lys240Asn)
c.713A>C (p.Lys238Thr)
c.768A>C (p.Lys256Asn)
c.759A>C (p.Lys253Asn)
c.711A>C (p.Lys237Asn)
c.690A>C (p.Lys230Asn)
c.678A>C (p.Lys226Asn)
n.751A>C
17g.74695789delCA2275147011CD300LF,RAB37c.656del (p.Lys219ArgfsTer?)
c.702del (p.Gly235AlafsTer?)
c.72+24131del (n.72+24131del)
c.552del (p.Gly185AlafsTer?)
c.687del (p.Gly230AlafsTer?)
n.479+24131del
c.*31del (n.*31del)
c.665del (p.Lys222ArgfsTer?)
c.701del (p.Lys234ArgfsTer?)
c.633del (p.Gly212AlafsTer?)
n.828del
c.788del (p.Lys263ArgfsTer?)
c.779del (p.Lys260ArgfsTer?)
c.743del (p.Lys248ArgfsTer?)
c.734del (p.Lys245ArgfsTer?)
c.710del (p.Lys237ArgfsTer?)
c.765del (p.Gly256AlafsTer?)
c.756del (p.Gly253AlafsTer?)
c.720del (p.Gly241AlafsTer?)
c.713del (p.Lys238ArgfsTer?)
c.768del (p.Gly257AlafsTer?)
c.759del (p.Gly254AlafsTer?)
c.711del (p.Gly238AlafsTer?)
c.690del (p.Gly231AlafsTer?)
c.678del (p.Gly227AlafsTer?)
n.751del
 dbSNP
17g.74695787T>ACA400935057CD300LF,RAB37c.655A>T (p.Lys219Ter)
c.701A>T (p.Lys234Ile)
c.72+24129T>A (n.72+24129T>A)
c.551A>T (p.Lys184Ile)
c.686A>T (p.Lys229Ile)
n.479+24129T>A
c.*30A>T (n.*30A>T)
c.664A>T (p.Lys222Ter)
c.700A>T (p.Lys234Ter)
c.632A>T (p.Lys211Ile)
n.827A>T
c.787A>T (p.Lys263Ter)
c.778A>T (p.Lys260Ter)
c.742A>T (p.Lys248Ter)
c.733A>T (p.Lys245Ter)
c.709A>T (p.Lys237Ter)
c.764A>T (p.Lys255Ile)
c.755A>T (p.Lys252Ile)
c.719A>T (p.Lys240Ile)
c.712A>T (p.Lys238Ter)
c.767A>T (p.Lys256Ile)
c.758A>T (p.Lys253Ile)
c.710A>T (p.Lys237Ile)
c.689A>T (p.Lys230Ile)
c.677A>T (p.Lys226Ile)
n.750A>T
17g.74695787T>CCA400935058CD300LF,RAB37c.655A>G (p.Lys219Glu)
c.701A>G (p.Lys234Arg)
c.72+24129T>C (n.72+24129T>C)
c.551A>G (p.Lys184Arg)
c.686A>G (p.Lys229Arg)
n.479+24129T>C
c.*30A>G (n.*30A>G)
c.664A>G (p.Lys222Glu)
c.700A>G (p.Lys234Glu)
c.632A>G (p.Lys211Arg)
n.827A>G
c.787A>G (p.Lys263Glu)
c.778A>G (p.Lys260Glu)
c.742A>G (p.Lys248Glu)
c.733A>G (p.Lys245Glu)
c.709A>G (p.Lys237Glu)
c.764A>G (p.Lys255Arg)
c.755A>G (p.Lys252Arg)
c.719A>G (p.Lys240Arg)
c.712A>G (p.Lys238Glu)
c.767A>G (p.Lys256Arg)
c.758A>G (p.Lys253Arg)
c.710A>G (p.Lys237Arg)
c.689A>G (p.Lys230Arg)
c.677A>G (p.Lys226Arg)
n.750A>G
17g.74695787T>GCA400935059CD300LF,RAB37c.655A>C (p.Lys219Gln)
c.701A>C (p.Lys234Thr)
c.72+24129T>G (n.72+24129T>G)
c.551A>C (p.Lys184Thr)
c.686A>C (p.Lys229Thr)
n.479+24129T>G
c.*30A>C (n.*30A>C)
c.664A>C (p.Lys222Gln)
c.700A>C (p.Lys234Gln)
c.632A>C (p.Lys211Thr)
n.827A>C
c.787A>C (p.Lys263Gln)
c.778A>C (p.Lys260Gln)
c.742A>C (p.Lys248Gln)
c.733A>C (p.Lys245Gln)
c.709A>C (p.Lys237Gln)
c.764A>C (p.Lys255Thr)
c.755A>C (p.Lys252Thr)
c.719A>C (p.Lys240Thr)
c.712A>C (p.Lys238Gln)
c.767A>C (p.Lys256Thr)
c.758A>C (p.Lys253Thr)
c.710A>C (p.Lys237Thr)
c.689A>C (p.Lys230Thr)
c.677A>C (p.Lys226Thr)
n.750A>C
17g.74695788T>ACA400935060CD300LF,RAB37c.654A>T (p.Gln218His)
c.700A>T (p.Lys234Ter)
c.72+24130T>A (n.72+24130T>A)
c.550A>T (p.Lys184Ter)
c.685A>T (p.Lys229Ter)
n.479+24130T>A
c.*29A>T (n.*29A>T)
c.663A>T (p.Gln221His)
c.699A>T (p.Gln233His)
c.631A>T (p.Lys211Ter)
n.826A>T
c.786A>T (p.Gln262His)
c.777A>T (p.Gln259His)
c.741A>T (p.Gln247His)
c.732A>T (p.Gln244His)
c.708A>T (p.Gln236His)
c.763A>T (p.Lys255Ter)
c.754A>T (p.Lys252Ter)
c.718A>T (p.Lys240Ter)
c.711A>T (p.Gln237His)
c.766A>T (p.Lys256Ter)
c.757A>T (p.Lys253Ter)
c.709A>T (p.Lys237Ter)
c.688A>T (p.Lys230Ter)
c.676A>T (p.Lys226Ter)
n.749A>T
17g.74695788T>CCA400935061CD300LF,RAB37c.654A>G (p.Gln218=)
c.700A>G (p.Lys234Glu)
c.72+24130T>C (n.72+24130T>C)
c.550A>G (p.Lys184Glu)
c.685A>G (p.Lys229Glu)
n.479+24130T>C
c.*29A>G (n.*29A>G)
c.663A>G (p.Gln221=)
c.699A>G (p.Gln233=)
c.631A>G (p.Lys211Glu)
n.826A>G
c.786A>G (p.Gln262=)
c.777A>G (p.Gln259=)
c.741A>G (p.Gln247=)
c.732A>G (p.Gln244=)
c.708A>G (p.Gln236=)
c.763A>G (p.Lys255Glu)
c.754A>G (p.Lys252Glu)
c.718A>G (p.Lys240Glu)
c.711A>G (p.Gln237=)
c.766A>G (p.Lys256Glu)
c.757A>G (p.Lys253Glu)
c.709A>G (p.Lys237Glu)
c.688A>G (p.Lys230Glu)
c.676A>G (p.Lys226Glu)
n.749A>G
17g.74695788T>GCA400935062CD300LF,RAB37c.654A>C (p.Gln218His)
c.700A>C (p.Lys234Gln)
c.72+24130T>G (n.72+24130T>G)
c.550A>C (p.Lys184Gln)
c.685A>C (p.Lys229Gln)
n.479+24130T>G
c.*29A>C (n.*29A>C)
c.663A>C (p.Gln221His)
c.699A>C (p.Gln233His)
c.631A>C (p.Lys211Gln)
n.826A>C
c.786A>C (p.Gln262His)
c.777A>C (p.Gln259His)
c.741A>C (p.Gln247His)
c.732A>C (p.Gln244His)
c.708A>C (p.Gln236His)
c.763A>C (p.Lys255Gln)
c.754A>C (p.Lys252Gln)
c.718A>C (p.Lys240Gln)
c.711A>C (p.Gln237His)
c.766A>C (p.Lys256Gln)
c.757A>C (p.Lys253Gln)
c.709A>C (p.Lys237Gln)
c.688A>C (p.Lys230Gln)
c.676A>C (p.Lys226Gln)
n.749A>C
17g.74695789T>ACA400935063CD300LF,RAB37c.653A>T (p.Gln218Leu)
c.699A>T (p.Ala233=)
c.72+24131T>A (n.72+24131T>A)
c.549A>T (p.Ala183=)
c.684A>T (p.Ala228=)
n.479+24131T>A
c.*28A>T (n.*28A>T)
c.662A>T (p.Gln221Leu)
c.698A>T (p.Gln233Leu)
c.630A>T (p.Ala210=)
n.825A>T
c.785A>T (p.Gln262Leu)
c.776A>T (p.Gln259Leu)
c.740A>T (p.Gln247Leu)
c.731A>T (p.Gln244Leu)
c.707A>T (p.Gln236Leu)
c.762A>T (p.Ala254=)
c.753A>T (p.Ala251=)
c.717A>T (p.Ala239=)
c.710A>T (p.Gln237Leu)
c.765A>T (p.Ala255=)
c.756A>T (p.Ala252=)
c.708A>T (p.Ala236=)
c.687A>T (p.Ala229=)
c.675A>T (p.Ala225=)
n.748A>T
 dbSNP
17g.74695789T>CCA8749759CD300LF,RAB37c.653A>G (p.Gln218Arg)
c.699A>G (p.Ala233=)
c.72+24131T>C (n.72+24131T>C)
c.549A>G (p.Ala183=)
c.684A>G (p.Ala228=)
n.479+24131T>C
c.*28A>G (n.*28A>G)
c.662A>G (p.Gln221Arg)
c.698A>G (p.Gln233Arg)
c.630A>G (p.Ala210=)
n.825A>G
c.785A>G (p.Gln262Arg)
c.776A>G (p.Gln259Arg)
c.740A>G (p.Gln247Arg)
c.731A>G (p.Gln244Arg)
c.707A>G (p.Gln236Arg)
c.762A>G (p.Ala254=)
c.753A>G (p.Ala251=)
c.717A>G (p.Ala239=)
c.710A>G (p.Gln237Arg)
c.765A>G (p.Ala255=)
c.756A>G (p.Ala252=)
c.708A>G (p.Ala236=)
c.687A>G (p.Ala229=)
c.675A>G (p.Ala225=)
n.748A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695789T>GCA400935064CD300LF,RAB37c.653A>C (p.Gln218Pro)
c.699A>C (p.Ala233=)
c.72+24131T>G (n.72+24131T>G)
c.549A>C (p.Ala183=)
c.684A>C (p.Ala228=)
n.479+24131T>G
c.*28A>C (n.*28A>C)
c.662A>C (p.Gln221Pro)
c.698A>C (p.Gln233Pro)
c.630A>C (p.Ala210=)
n.825A>C
c.785A>C (p.Gln262Pro)
c.776A>C (p.Gln259Pro)
c.740A>C (p.Gln247Pro)
c.731A>C (p.Gln244Pro)
c.707A>C (p.Gln236Pro)
c.762A>C (p.Ala254=)
c.753A>C (p.Ala251=)
c.717A>C (p.Ala239=)
c.710A>C (p.Gln237Pro)
c.765A>C (p.Ala255=)
c.756A>C (p.Ala252=)
c.708A>C (p.Ala236=)
c.687A>C (p.Ala229=)
c.675A>C (p.Ala225=)
n.748A>C
 dbSNP gnomAD v4
17g.74695789T=CA2275147012CD300LF,RAB37c.653A= (p.Gln218=)
c.699A= (p.Ala233=)
c.72+24131T= (n.72+24131T=)
c.549A= (p.Ala183=)
c.684A= (p.Ala228=)
n.479+24131T=
c.*28A= (n.*28A=)
c.662A= (p.Gln221=)
c.698A= (p.Gln233=)
c.630A= (p.Ala210=)
n.825A=
c.785A= (p.Gln262=)
c.776A= (p.Gln259=)
c.740A= (p.Gln247=)
c.731A= (p.Gln244=)
c.707A= (p.Gln236=)
c.762A= (p.Ala254=)
c.753A= (p.Ala251=)
c.717A= (p.Ala239=)
c.710A= (p.Gln237=)
c.765A= (p.Ala255=)
c.756A= (p.Ala252=)
c.708A= (p.Ala236=)
c.687A= (p.Ala229=)
c.675A= (p.Ala225=)
n.748A=

Number of alleles fetched