Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.12735667T>A | CA414984370 | USP9Y | c.713T>A (p.Leu238Ter) n.725T>A c.479T>A (p.Leu160Ter) | |
Y | g.12735667T>C | CA414984375 | USP9Y | c.713T>C (p.Leu238Ser) n.725T>C c.479T>C (p.Leu160Ser) | |
Y | g.12735667T>G | CA414984388 | USP9Y | c.713T>G (p.Leu238Trp) n.725T>G c.479T>G (p.Leu160Trp) | |
Y | g.12735668G>A | CA519865296 | USP9Y | c.714G>A (p.Leu238=) n.726G>A c.480G>A (p.Leu160=) | |
Y | g.12735668G>C | CA414984391 | USP9Y | c.714G>C (p.Leu238Phe) n.726G>C c.480G>C (p.Leu160Phe) | |
Y | g.12735668G>T | CA414984394 | USP9Y | c.714G>T (p.Leu238Phe) n.726G>T c.480G>T (p.Leu160Phe) | |
Y | g.12735669C>A | CA414984408 | USP9Y | c.715C>A (p.His239Asn) n.727C>A c.481C>A (p.His161Asn) | |
Y | g.12735669C= | CA2470555341 | USP9Y | c.715C= (p.His239=) n.727C= c.481C= (p.His161=) | |
Y | g.12735669C>G | CA414984402 | USP9Y | c.715C>G (p.His239Asp) n.727C>G c.481C>G (p.His161Asp) | |
Y | g.12735669C>T | CA10573059 | USP9Y | c.715C>T (p.His239Tyr) n.727C>T c.481C>T (p.His161Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12735670A>C | CA414984411 | USP9Y | c.716A>C (p.His239Pro) n.728A>C c.482A>C (p.His161Pro) | |
Y | g.12735670A>G | CA414984413 | USP9Y | c.716A>G (p.His239Arg) n.728A>G c.482A>G (p.His161Arg) | |
Y | g.12735670A>T | CA414984415 | USP9Y | c.716A>T (p.His239Leu) n.728A>T c.482A>T (p.His161Leu) | |
Y | g.12735671T>A | CA414984416 | USP9Y | c.717T>A (p.His239Gln) n.729T>A c.483T>A (p.His161Gln) | |
Y | g.12735671T>C | CA519865332 | USP9Y | c.717T>C (p.His239=) n.729T>C c.483T>C (p.His161=) | |
Y | g.12735671T>G | CA414984417 | USP9Y | c.717T>G (p.His239Gln) n.729T>G c.483T>G (p.His161Gln) | |
Y | g.12735672G>A | CA414984420 | USP9Y | c.718G>A (p.Asp240Asn) n.730G>A c.484G>A (p.Asp162Asn) | |
Y | g.12735672G>C | CA414984423 | USP9Y | c.718G>C (p.Asp240His) n.730G>C c.484G>C (p.Asp162His) | |
Y | g.12735672G>T | CA414984425 | USP9Y | c.718G>T (p.Asp240Tyr) n.730G>T c.484G>T (p.Asp162Tyr) | |
Y | g.12735673A>C | CA414984429 | USP9Y | c.719A>C (p.Asp240Ala) n.731A>C c.485A>C (p.Asp162Ala) | |
Y | g.12735673A>G | CA414984434 | USP9Y | c.719A>G (p.Asp240Gly) n.731A>G c.485A>G (p.Asp162Gly) | |
Y | g.12735673A>T | CA414984446 | USP9Y | c.719A>T (p.Asp240Val) n.731A>T c.485A>T (p.Asp162Val) | |
Y | g.12735674T>A | CA414984453 | USP9Y | c.720T>A (p.Asp240Glu) n.732T>A c.486T>A (p.Asp162Glu) | |
Y | g.12735674T>C | CA519865350 | USP9Y | c.720T>C (p.Asp240=) n.732T>C c.486T>C (p.Asp162=) | |
Y | g.12735674T>G | CA414984449 | USP9Y | c.720T>G (p.Asp240Glu) n.732T>G c.486T>G (p.Asp162Glu) | |
Y | g.12735675C>A | CA414984460 | USP9Y | c.721C>A (p.Arg241Ser) n.733C>A c.487C>A (p.Arg163Ser) | |
Y | g.12735675C>G | CA414984465 | USP9Y | c.721C>G (p.Arg241Gly) n.733C>G c.487C>G (p.Arg163Gly) | |
Y | g.12735675C>T | CA414984463 | USP9Y | c.721C>T (p.Arg241Cys) n.733C>T c.487C>T (p.Arg163Cys) | |
Y | g.12735676del | CA2766240752 | USP9Y | c.722del (p.Arg241LeufsTer8) n.734del c.488del (p.Arg163LeufsTer8) | |
Y | g.12735676G>A | CA10573060 | USP9Y | c.722G>A (p.Arg241His) n.734G>A c.488G>A (p.Arg163His) | dbSNP ExAC gnomAD v2 |
Y | g.12735676G>C | CA414984470 | USP9Y | c.722G>C (p.Arg241Pro) n.734G>C c.488G>C (p.Arg163Pro) | |
Y | g.12735676G= | CA2470555342 | USP9Y | c.722G= (p.Arg241=) n.734G= c.488G= (p.Arg163=) | |
Y | g.12735676G>T | CA414984473 | USP9Y | c.722G>T (p.Arg241Leu) n.734G>T c.488G>T (p.Arg163Leu) | |
Y | g.12735677T>A | CA519865392 | USP9Y | c.723T>A (p.Arg241=) n.735T>A c.489T>A (p.Arg163=) | |
Y | g.12735677T>C | CA519865391 | USP9Y | c.723T>C (p.Arg241=) n.735T>C c.489T>C (p.Arg163=) | |
Y | g.12735677T>G | CA519865388 | USP9Y | c.723T>G (p.Arg241=) n.735T>G c.489T>G (p.Arg163=) | |
Y | g.12735683dup | CA1139600272 | USP9Y | c.729dup (p.Asn244Ter) n.741dup c.495dup (p.Asn166Ter) | |
Y | g.12735683del | CA519865389 | USP9Y | c.729del (p.Phe243LeufsTer6) n.741del c.495del (p.Phe165LeufsTer6) | COSMIC |
Y | g.12735678T>A | CA414984480 | USP9Y | c.724T>A (p.Phe242Ile) n.736T>A c.490T>A (p.Phe164Ile) | |
Y | g.12735678T>C | CA414984484 | USP9Y | c.724T>C (p.Phe242Leu) n.736T>C c.490T>C (p.Phe164Leu) | |
Y | g.12735678T>G | CA414984489 | USP9Y | c.724T>G (p.Phe242Val) n.736T>G c.490T>G (p.Phe164Val) | |
Y | g.12735679T>A | CA414984497 | USP9Y | c.725T>A (p.Phe242Tyr) n.737T>A c.491T>A (p.Phe164Tyr) | |
Y | g.12735679T>C | CA414984498 | USP9Y | c.725T>C (p.Phe242Ser) n.737T>C c.491T>C (p.Phe164Ser) | |
Y | g.12735679T>G | CA414984511 | USP9Y | c.725T>G (p.Phe242Cys) n.737T>G c.491T>G (p.Phe164Cys) | |
Y | g.12735680T>A | CA414984512 | USP9Y | c.726T>A (p.Phe242Leu) n.738T>A c.492T>A (p.Phe164Leu) | |
Y | g.12735680T>C | CA519865421 | USP9Y | c.726T>C (p.Phe242=) n.738T>C c.492T>C (p.Phe164=) | |
Y | g.12735680T>G | CA414984513 | USP9Y | c.726T>G (p.Phe242Leu) n.738T>G c.492T>G (p.Phe164Leu) | |
Y | g.12735681T>A | CA414984532 | USP9Y | c.727T>A (p.Phe243Ile) n.739T>A c.493T>A (p.Phe165Ile) | |
Y | g.12735681T>C | CA414984516 | USP9Y | c.727T>C (p.Phe243Leu) n.739T>C c.493T>C (p.Phe165Leu) | |
Y | g.12735681T>G | CA414984526 | USP9Y | c.727T>G (p.Phe243Val) n.739T>G c.493T>G (p.Phe165Val) |