Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
Y | g.12735682T>A | CA414984538 | USP9Y | c.728T>A (p.Phe243Tyr) n.740T>A c.494T>A (p.Phe165Tyr) | |
Y | g.12735682T>C | CA414984541 | USP9Y | c.728T>C (p.Phe243Ser) n.740T>C c.494T>C (p.Phe165Ser) | |
Y | g.12735682T>G | CA414984546 | USP9Y | c.728T>G (p.Phe243Cys) n.740T>G c.494T>G (p.Phe165Cys) | |
Y | g.12735683T>A | CA414984549 | USP9Y | c.729T>A (p.Phe243Leu) n.741T>A c.495T>A (p.Phe165Leu) | |
Y | g.12735683T>C | CA519865470 | USP9Y | c.729T>C (p.Phe243=) n.741T>C c.495T>C (p.Phe165=) | |
Y | g.12735683T>G | CA414984550 | USP9Y | c.729T>G (p.Phe243Leu) n.741T>G c.495T>G (p.Phe165Leu) | |
Y | g.12735684A= | CA2470555343 | USP9Y | c.730A= (p.Asn244=) n.742A= c.496A= (p.Asn166=) | |
Y | g.12735684A>C | CA414984555 | USP9Y | c.730A>C (p.Asn244His) n.742A>C c.496A>C (p.Asn166His) | |
Y | g.12735684A>G | CA10573061 | USP9Y | c.730A>G (p.Asn244Asp) n.742A>G c.496A>G (p.Asn166Asp) | dbSNP ExAC gnomAD v2 |
Y | g.12735684A>T | CA414984556 | USP9Y | c.730A>T (p.Asn244Tyr) n.742A>T c.496A>T (p.Asn166Tyr) | |
Y | g.12735685A>C | CA414984558 | USP9Y | c.731A>C (p.Asn244Thr) n.743A>C c.497A>C (p.Asn166Thr) | |
Y | g.12735685A>G | CA414984561 | USP9Y | c.731A>G (p.Asn244Ser) n.743A>G c.497A>G (p.Asn166Ser) | |
Y | g.12735685A>T | CA414984564 | USP9Y | c.731A>T (p.Asn244Ile) n.743A>T c.497A>T (p.Asn166Ile) | |
Y | g.12735686T>A | CA414984579 | USP9Y | c.732T>A (p.Asn244Lys) n.744T>A c.498T>A (p.Asn166Lys) | |
Y | g.12735686T>C | CA519865498 | USP9Y | c.732T>C (p.Asn244=) n.744T>C c.498T>C (p.Asn166=) | |
Y | g.12735686T>G | CA414984568 | USP9Y | c.732T>G (p.Asn244Lys) n.744T>G c.498T>G (p.Asn166Lys) | |
Y | g.12735687G>A | CA414984584 | USP9Y | c.733G>A (p.Gly245Arg) n.745G>A c.499G>A (p.Gly167Arg) | |
Y | g.12735687G>C | CA414984585 | USP9Y | c.733G>C (p.Gly245Arg) n.745G>C c.499G>C (p.Gly167Arg) | |
Y | g.12735687G>T | CA414984587 | USP9Y | c.733G>T (p.Gly245Ter) n.745G>T c.499G>T (p.Gly167Ter) | |
Y | g.12735688G>A | CA414984590 | USP9Y | c.734G>A (p.Gly245Glu) n.746G>A c.500G>A (p.Gly167Glu) | |
Y | g.12735688G>C | CA414984598 | USP9Y | c.734G>C (p.Gly245Ala) n.746G>C c.500G>C (p.Gly167Ala) | |
Y | g.12735688G>T | CA414984601 | USP9Y | c.734G>T (p.Gly245Val) n.746G>T c.500G>T (p.Gly167Val) | |
Y | g.12735689A>C | CA519865524 | USP9Y | c.735A>C (p.Gly245=) n.747A>C c.501A>C (p.Gly167=) | |
Y | g.12735689A>G | CA519865529 | USP9Y | c.735A>G (p.Gly245=) n.747A>G c.501A>G (p.Gly167=) | |
Y | g.12735689A>T | CA519865530 | USP9Y | c.735A>T (p.Gly245=) n.747A>T c.501A>T (p.Gly167=) | |
Y | g.12735690T>A | CA414984608 | USP9Y | c.736T>A (p.Ser246Thr) n.748T>A c.502T>A (p.Ser168Thr) | |
Y | g.12735690T>C | CA414984614 | USP9Y | c.736T>C (p.Ser246Pro) n.748T>C c.502T>C (p.Ser168Pro) | |
Y | g.12735690T>G | CA414984618 | USP9Y | c.736T>G (p.Ser246Ala) n.748T>G c.502T>G (p.Ser168Ala) | |
Y | g.12735691C>A | CA414984620 | USP9Y | c.737C>A (p.Ser246Ter) n.749C>A c.503C>A (p.Ser168Ter) | |
Y | g.12735691C>G | CA414984622 | USP9Y | c.737C>G (p.Ser246Ter) n.749C>G c.503C>G (p.Ser168Ter) | |
Y | g.12735691C>T | CA414984628 | USP9Y | c.737C>T (p.Ser246Leu) n.749C>T c.503C>T (p.Ser168Leu) | |
Y | g.12735692A>C | CA519865550 | USP9Y | c.738A>C (p.Ser246=) n.750A>C c.504A>C (p.Ser168=) | |
Y | g.12735692A>G | CA519865554 | USP9Y | c.738A>G (p.Ser246=) n.750A>G c.504A>G (p.Ser168=) | |
Y | g.12735692A>T | CA519865558 | USP9Y | c.738A>T (p.Ser246=) n.750A>T c.504A>T (p.Ser168=) | |
Y | g.12735693G>A | CA414984641 | USP9Y | c.739G>A (p.Ala247Thr) n.751G>A c.505G>A (p.Ala169Thr) | |
Y | g.12735693G>C | CA414984639 | USP9Y | c.739G>C (p.Ala247Pro) n.751G>C c.505G>C (p.Ala169Pro) | |
Y | g.12735693G>T | CA414984636 | USP9Y | c.739G>T (p.Ala247Ser) n.751G>T c.505G>T (p.Ala169Ser) | |
Y | g.12735694C>A | CA414984645 | USP9Y | c.740C>A (p.Ala247Glu) n.752C>A c.506C>A (p.Ala169Glu) | |
Y | g.12735694C>G | CA414984650 | USP9Y | c.740C>G (p.Ala247Gly) n.752C>G c.506C>G (p.Ala169Gly) | |
Y | g.12735694C>T | CA414984653 | USP9Y | c.740C>T (p.Ala247Val) n.752C>T c.506C>T (p.Ala169Val) | |
Y | g.12735695A>C | CA519865585 | USP9Y | c.741A>C (p.Ala247=) n.753A>C c.507A>C (p.Ala169=) | |
Y | g.12735695A>G | CA519865589 | USP9Y | c.741A>G (p.Ala247=) n.753A>G c.507A>G (p.Ala169=) | |
Y | g.12735695A>T | CA519865591 | USP9Y | c.741A>T (p.Ala247=) n.753A>T c.507A>T (p.Ala169=) | |
Y | g.12735696T>A | CA414984654 | USP9Y | c.742T>A (p.Leu248Ile) n.754T>A c.508T>A (p.Leu170Ile) | |
Y | g.12735696T>C | CA519865595 | USP9Y | c.742T>C (p.Leu248=) n.754T>C c.508T>C (p.Leu170=) | |
Y | g.12735696T>G | CA414984657 | USP9Y | c.742T>G (p.Leu248Val) n.754T>G c.508T>G (p.Leu170Val) | |
Y | g.12735697T>A | CA414984661 | USP9Y | c.743T>A (p.Leu248Ter) n.755T>A c.509T>A (p.Leu170Ter) | |
Y | g.12735697T>C | CA414984662 | USP9Y | c.743T>C (p.Leu248Ser) n.755T>C c.509T>C (p.Leu170Ser) | |
Y | g.12735697T>G | CA414984663 | USP9Y | c.743T>G (p.Leu248Ter) n.755T>G c.509T>G (p.Leu170Ter) | |
Y | g.12735698A>C | CA414984665 | USP9Y | c.744A>C (p.Leu248Phe) n.756A>C c.510A>C (p.Leu170Phe) | |
Y | g.12735698A>G | CA519865613 | USP9Y | c.744A>G (p.Leu248=) n.756A>G c.510A>G (p.Leu170=) | |
Y | g.12735698A>T | CA414984668 | USP9Y | c.744A>T (p.Leu248Phe) n.756A>T c.510A>T (p.Leu170Phe) | |
Y | g.12735699A>C | CA414984676 | USP9Y | c.745A>C (p.Asn249His) n.757A>C c.511A>C (p.Asn171His) | |
Y | g.12735699A>G | CA414984679 | USP9Y | c.745A>G (p.Asn249Asp) n.757A>G c.511A>G (p.Asn171Asp) | |
Y | g.12735699A>T | CA414984684 | USP9Y | c.745A>T (p.Asn249Tyr) n.757A>T c.511A>T (p.Asn171Tyr) | |
Y | g.12735700A>C | CA414984702 | USP9Y | c.746A>C (p.Asn249Thr) n.758A>C c.512A>C (p.Asn171Thr) | |
Y | g.12735700A>G | CA414984716 | USP9Y | c.746A>G (p.Asn249Ser) n.758A>G c.512A>G (p.Asn171Ser) | |
Y | g.12735700A>T | CA414984698 | USP9Y | c.746A>T (p.Asn249Ile) n.758A>T c.512A>T (p.Asn171Ile) | |
Y | g.12735701T>A | CA414984721 | USP9Y | c.747T>A (p.Asn249Lys) n.759T>A c.513T>A (p.Asn171Lys) | |
Y | g.12735701T>C | CA10573062 | USP9Y | c.747T>C (p.Asn249=) n.759T>C c.513T>C (p.Asn171=) | dbSNP ExAC gnomAD v2 |
Y | g.12735701T>G | CA414984734 | USP9Y | c.747T>G (p.Asn249Lys) n.759T>G c.513T>G (p.Asn171Lys) | |
Y | g.12735701T= | CA2470555344 | USP9Y | c.747T= (p.Asn249=) n.759T= c.513T= (p.Asn171=) | |
Y | g.12735702A>C | CA414984750 | USP9Y | c.748A>C (p.Ile250Leu) n.760A>C c.514A>C (p.Ile172Leu) | |
Y | g.12735702A>G | CA414984755 | USP9Y | c.748A>G (p.Ile250Val) n.760A>G c.514A>G (p.Ile172Val) | |
Y | g.12735702A>T | CA414984759 | USP9Y | c.748A>T (p.Ile250Phe) n.760A>T c.514A>T (p.Ile172Phe) | |
Y | g.12735703T>A | CA414984765 | USP9Y | c.749T>A (p.Ile250Asn) n.761T>A c.515T>A (p.Ile172Asn) | |
Y | g.12735703T>C | CA414984769 | USP9Y | c.749T>C (p.Ile250Thr) n.761T>C c.515T>C (p.Ile172Thr) | |
Y | g.12735703T>G | CA414984773 | USP9Y | c.749T>G (p.Ile250Ser) n.761T>G c.515T>G (p.Ile172Ser) | |
Y | g.12735704T>A | CA519865684 | USP9Y | c.750T>A (p.Ile250=) n.762T>A c.516T>A (p.Ile172=) | |
Y | g.12735704T>C | CA519865715 | USP9Y | c.750T>C (p.Ile250=) n.762T>C c.516T>C (p.Ile172=) | |
Y | g.12735704T>G | CA414984779 | USP9Y | c.750T>G (p.Ile250Met) n.762T>G c.516T>G (p.Ile172Met) | |
Y | g.12735705C>A | CA414984783 | USP9Y | c.751C>A (p.Gln251Lys) n.763C>A c.517C>A (p.Gln173Lys) | |
Y | g.12735705C>G | CA414984784 | USP9Y | c.751C>G (p.Gln251Glu) n.763C>G c.517C>G (p.Gln173Glu) | |
Y | g.12735705C>T | CA414984785 | USP9Y | c.751C>T (p.Gln251Ter) n.763C>T c.517C>T (p.Gln173Ter) | |
Y | g.12735706A>C | CA414984794 | USP9Y | c.752A>C (p.Gln251Pro) n.764A>C c.518A>C (p.Gln173Pro) | |
Y | g.12735706A>G | CA414984788 | USP9Y | c.752A>G (p.Gln251Arg) n.764A>G c.518A>G (p.Gln173Arg) | |
Y | g.12735706A>T | CA414984791 | USP9Y | c.752A>T (p.Gln251Leu) n.764A>T c.518A>T (p.Gln173Leu) | |
Y | g.12735707A>C | CA414984799 | USP9Y | c.753A>C (p.Gln251His) n.765A>C c.519A>C (p.Gln173His) | |
Y | g.12735707A>G | CA519865736 | USP9Y | c.753A>G (p.Gln251=) n.765A>G c.519A>G (p.Gln173=) | |
Y | g.12735707A>T | CA414984806 | USP9Y | c.753A>T (p.Gln251His) n.765A>T c.519A>T (p.Gln173His) | |
Y | g.12735708A>C | CA414984811 | USP9Y | c.754A>C (p.Ile252Leu) n.766A>C c.519+1A>C (n.519+1A>C) | |
Y | g.12735708A>G | CA414984814 | USP9Y | c.754A>G (p.Ile252Val) n.766A>G c.519+1A>G (n.519+1A>G) | |
Y | g.12735708A>T | CA414984818 | USP9Y | c.754A>T (p.Ile252Leu) n.766A>T c.519+1A>T (n.519+1A>T) | |
Y | g.12735709T>A | CA414984821 | USP9Y | c.755T>A (p.Ile252Lys) n.767T>A c.519+2T>A (n.519+2T>A) | |
Y | g.12735709T>C | CA414984825 | USP9Y | c.755T>C (p.Ile252Thr) n.767T>C c.519+2T>C (n.519+2T>C) | |
Y | g.12735709T>G | CA414984828 | USP9Y | c.755T>G (p.Ile252Arg) n.767T>G c.519+2T>G (n.519+2T>G) | |
Y | g.12735710A= | CA2470555345 | USP9Y | c.756A= (p.Ile252=) n.768A= c.519+3A= (n.519+3A=) | |
Y | g.12735710A>C | CA10573063 | USP9Y | c.756A>C (p.Ile252=) n.768A>C c.519+3A>C (n.519+3A>C) | dbSNP ExAC gnomAD v2 |
Y | g.12735710A>G | CA414984835 | USP9Y | c.756A>G (p.Ile252Met) n.768A>G c.519+3A>G (n.519+3A>G) | |
Y | g.12735710A>T | CA519865776 | USP9Y | c.756A>T (p.Ile252=) n.768A>T c.519+3A>T (n.519+3A>T) | |
Y | g.12735711A>C | CA414984846 | USP9Y | c.757A>C (p.Ile253Leu) n.769A>C c.519+4A>C (n.519+4A>C) | |
Y | g.12735711A>G | CA414984849 | USP9Y | c.757A>G (p.Ile253Val) n.769A>G c.519+4A>G (n.519+4A>G) | |
Y | g.12735711A>T | CA414984842 | USP9Y | c.757A>T (p.Ile253Phe) n.769A>T c.519+4A>T (n.519+4A>T) | |
Y | g.12735712T>A | CA414984855 | USP9Y | c.758T>A (p.Ile253Asn) n.770T>A c.519+5T>A (n.519+5T>A) | |
Y | g.12735712T>C | CA414984859 | USP9Y | c.758T>C (p.Ile253Thr) n.770T>C c.519+5T>C (n.519+5T>C) | |
Y | g.12735712T>G | CA414984860 | USP9Y | c.758T>G (p.Ile253Ser) n.770T>G c.519+5T>G (n.519+5T>G) | |
Y | g.12735713T>A | CA519865794 | USP9Y | c.759T>A (p.Ile253=) n.771T>A c.519+6T>A (n.519+6T>A) | |
Y | g.12735713T>C | CA519865801 | USP9Y | c.759T>C (p.Ile253=) n.771T>C c.519+6T>C (n.519+6T>C) | |
Y | g.12735713T>G | CA414984861 | USP9Y | c.759T>G (p.Ile253Met) n.771T>G c.519+6T>G (n.519+6T>G) | |
Y | g.12735714G>A | CA414984874 | USP9Y | c.760G>A (p.Ala254Thr) n.772G>A c.519+7G>A (n.519+7G>A) | |
Y | g.12735714G>C | CA414984870 | USP9Y | c.760G>C (p.Ala254Pro) n.772G>C c.519+7G>C (n.519+7G>C) | |
Y | g.12735714G>T | CA414984864 | USP9Y | c.760G>T (p.Ala254Ser) n.772G>T c.519+7G>T (n.519+7G>T) | |
Y | g.12735715C>A | CA414984883 | USP9Y | c.761C>A (p.Ala254Glu) n.773C>A c.519+8C>A (n.519+8C>A) | |
Y | g.12735715C>G | CA414984886 | USP9Y | c.761C>G (p.Ala254Gly) n.773C>G c.519+8C>G (n.519+8C>G) | |
Y | g.12735715C>T | CA414984893 | USP9Y | c.761C>T (p.Ala254Val) n.773C>T c.519+8C>T (n.519+8C>T) | |
Y | g.12735716A>C | CA519865812 | USP9Y | c.762A>C (p.Ala254=) n.774A>C c.519+9A>C (n.519+9A>C) | |
Y | g.12735716A>G | CA519865815 | USP9Y | c.762A>G (p.Ala254=) n.774A>G c.519+9A>G (n.519+9A>G) | |
Y | g.12735716A>T | CA519865818 | USP9Y | c.762A>T (p.Ala254=) n.774A>T c.519+9A>T (n.519+9A>T) | |
Y | g.12735717G>A | CA414984896 | USP9Y | c.763G>A (p.Ala255Thr) n.775G>A c.519+10G>A (n.519+10G>A) | |
Y | g.12735717G>C | CA414984901 | USP9Y | c.763G>C (p.Ala255Pro) n.775G>C c.519+10G>C (n.519+10G>C) | |
Y | g.12735717G>T | CA414984905 | USP9Y | c.763G>T (p.Ala255Ser) n.775G>T c.519+10G>T (n.519+10G>T) | |
Y | g.12735718C>A | CA414984911 | USP9Y | c.764C>A (p.Ala255Asp) n.776C>A c.519+11C>A (n.519+11C>A) | |
Y | g.12735718C>G | CA414984919 | USP9Y | c.764C>G (p.Ala255Gly) n.776C>G c.519+11C>G (n.519+11C>G) | |
Y | g.12735718C>T | CA414984915 | USP9Y | c.764C>T (p.Ala255Val) n.776C>T c.519+11C>T (n.519+11C>T) | |
Y | g.12735719T>A | CA519865849 | USP9Y | c.765T>A (p.Ala255=) n.777T>A c.519+12T>A (n.519+12T>A) | |
Y | g.12735719T>C | CA519865855 | USP9Y | c.765T>C (p.Ala255=) n.777T>C c.519+12T>C (n.519+12T>C) | |
Y | g.12735719T>G | CA519865850 | USP9Y | c.765T>G (p.Ala255=) n.777T>G c.519+12T>G (n.519+12T>G) | |
Y | g.12735720C>A | CA414984923 | USP9Y | c.766C>A (p.Leu256Ile) n.778C>A c.519+13C>A (n.519+13C>A) | |
Y | g.12735720C>G | CA414984926 | USP9Y | c.766C>G (p.Leu256Val) n.778C>G c.519+13C>G (n.519+13C>G) | |
Y | g.12735720C>T | CA414984929 | USP9Y | c.766C>T (p.Leu256Phe) n.778C>T c.519+13C>T (n.519+13C>T) | |
Y | g.12735720_12735723delinsCTTA | CA2470555346 | USP9Y | c.766_769delinsCTTA (p.Leu256=) n.778_781delinsCTTA c.519+13_519+16delinsCTTA (n.519+13_519+16delinsCTTA) | |
Y | g.12735721T>A | CA414984942 | USP9Y | c.767T>A (p.Leu256His) n.779T>A c.519+14T>A (n.519+14T>A) | |
Y | g.12735721T>C | CA414984943 | USP9Y | c.767T>C (p.Leu256Pro) n.779T>C c.519+14T>C (n.519+14T>C) | |
Y | g.12735721T>G | CA414984946 | USP9Y | c.767T>G (p.Leu256Arg) n.779T>G c.519+14T>G (n.519+14T>G) | |
Y | g.12735722del | CA2579747616 | USP9Y | c.768del (p.Ile257LeufsTer16) n.780del c.519+15del (n.519+15del) | |
Y | g.12735724_12735726del | CA10573064 | USP9Y | c.770_772del (p.Ile257del) n.782_784del c.519+17_519+19del (n.519+17_519+19del) | dbSNP ExAC gnomAD v2 |
Y | g.12735722T>A | CA519865884 | USP9Y | c.768T>A (p.Leu256=) n.780T>A c.519+15T>A (n.519+15T>A) | |
Y | g.12735722T>C | CA519865888 | USP9Y | c.768T>C (p.Leu256=) n.780T>C c.519+15T>C (n.519+15T>C) | |
Y | g.12735722T>G | CA519865892 | USP9Y | c.768T>G (p.Leu256=) n.780T>G c.519+15T>G (n.519+15T>G) | |
Y | g.12735723A>C | CA414984951 | USP9Y | c.769A>C (p.Ile257Leu) n.781A>C c.519+16A>C (n.519+16A>C) | |
Y | g.12735723A>G | CA414984954 | USP9Y | c.769A>G (p.Ile257Val) n.781A>G c.519+16A>G (n.519+16A>G) | |
Y | g.12735723A>T | CA414984959 | USP9Y | c.769A>T (p.Ile257Phe) n.781A>T c.519+16A>T (n.519+16A>T) | |
Y | g.12735724T>A | CA414984964 | USP9Y | c.770T>A (p.Ile257Asn) n.782T>A c.519+17T>A (n.519+17T>A) | |
Y | g.12735724T>C | CA414984968 | USP9Y | c.770T>C (p.Ile257Thr) n.782T>C c.519+17T>C (n.519+17T>C) | |
Y | g.12735724T>G | CA414984966 | USP9Y | c.770T>G (p.Ile257Ser) n.782T>G c.519+17T>G (n.519+17T>G) | |
Y | g.12735724_12735728delinsTTAAG | CA2470555347 | USP9Y | c.770_773+1delinsTTAAG n.782_785+1delinsTTAAG c.519+17_519+21delinsTTAAG (n.519+17_519+21delinsTTAAG) | |
Y | g.12735725T>A | CA519865916 | USP9Y | c.771T>A (p.Ile257=) n.783T>A c.519+18T>A (n.519+18T>A) | |
Y | g.12735725T>C | CA519865924 | USP9Y | c.771T>C (p.Ile257=) n.783T>C c.519+18T>C (n.519+18T>C) | |
Y | g.12735725T>G | CA414984971 | USP9Y | c.771T>G (p.Ile257Met) n.783T>G c.519+18T>G (n.519+18T>G) | |
Y | g.12735730_12735733del | CA10573065 | USP9Y | c.773+3_773+6del n.785+3_785+6del c.519+23_519+26del (n.519+23_519+26del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12735726A>C | CA414984974 | USP9Y | c.772A>C (p.Lys258Gln) n.784A>C c.519+19A>C (n.519+19A>C) | |
Y | g.12735726A>G | CA414984980 | USP9Y | c.772A>G (p.Lys258Glu) n.784A>G c.519+19A>G (n.519+19A>G) | |
Y | g.12735726A>T | CA414984976 | USP9Y | c.772A>T (p.Lys258Ter) n.784A>T c.519+19A>T (n.519+19A>T) | |
Y | g.12735727A>C | CA414984984 | USP9Y | c.773A>C (p.Lys258Thr) n.785A>C c.519+20A>C (n.519+20A>C) | |
Y | g.12735727A>G | CA414984989 | USP9Y | c.773A>G (p.Lys258Arg) n.785A>G c.519+20A>G (n.519+20A>G) | |
Y | g.12735727A>T | CA414984987 | USP9Y | c.773A>T (p.Lys258Ile) n.785A>T c.519+20A>T (n.519+20A>T) | |
Y | g.12735728G>A | CA414984993 | USP9Y | c.773+1G>A (n.773+1G>A) n.785+1G>A c.519+21G>A (n.519+21G>A) | |
Y | g.12735728G>C | CA414985005 | USP9Y | c.773+1G>C (n.773+1G>C) n.785+1G>C c.519+21G>C (n.519+21G>C) | |
Y | g.12735728G>T | CA414985010 | USP9Y | c.773+1G>T (n.773+1G>T) n.785+1G>T c.519+21G>T (n.519+21G>T) | |
Y | g.12735729T>A | CA414985015 | USP9Y | c.773+2T>A (n.773+2T>A) n.785+2T>A c.519+22T>A (n.519+22T>A) | |
Y | g.12735729T>C | CA414985019 | USP9Y | c.773+2T>C (n.773+2T>C) n.785+2T>C c.519+22T>C (n.519+22T>C) | |
Y | g.12735729T>G | CA414985022 | USP9Y | c.773+2T>G (n.773+2T>G) n.785+2T>G c.519+22T>G (n.519+22T>G) | |
Y | g.12735734T>A | CA2766240753 | USP9Y | c.773+7T>A (n.773+7T>A) n.785+7T>A c.519+27T>A (n.519+27T>A) | |
Y | g.12735735A>T | CA2766240754 | USP9Y | c.773+8A>T (n.773+8A>T) n.785+8A>T c.519+28A>T (n.519+28A>T) | |
Y | g.12735743del | CA2526145446 | USP9Y | c.773+16del (n.773+16del) n.785+16del c.520-31del (n.520-31del) | |
Y | g.12735743A= | CA2470555348 | USP9Y | c.773+16A= (n.773+16A=) n.785+16A= c.520-31A= (n.520-31A=) | |
Y | g.12735743A>G | CA10573066 | USP9Y | c.773+16A>G (n.773+16A>G) n.785+16A>G c.520-31A>G (n.520-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12735745G>A | CA2579747617 | USP9Y | c.773+18G>A (n.773+18G>A) n.785+18G>A c.520-29G>A (n.520-29G>A) | |
Y | g.12735746T>G | CA2766240755 | USP9Y | c.773+19T>G (n.773+19T>G) n.785+19T>G c.520-28T>G (n.520-28T>G) | |
Y | g.12735747T>C | CA2508226001 | USP9Y | c.773+20T>C (n.773+20T>C) n.785+20T>C c.520-27T>C (n.520-27T>C) | |
Y | g.12735762A>T | CA2766240756 | USP9Y | c.773+35A>T (n.773+35A>T) n.785+35A>T c.520-12A>T (n.520-12A>T) | |
Y | g.12735764G>A | CA645293673 | USP9Y | c.773+37G>A (n.773+37G>A) n.785+37G>A c.520-10G>A (n.520-10G>A) | dbSNP gnomAD v2 |
Y | g.12735764G>C | CA2824884731 | USP9Y | c.773+37G>C (n.773+37G>C) n.785+37G>C c.520-10G>C (n.520-10G>C) | |
Y | g.12735764G= | CA2470555349 | USP9Y | c.773+37G= (n.773+37G=) n.785+37G= c.520-10G= (n.520-10G=) | |
Y | g.12735767del | CA2509819442 | USP9Y | c.773+40del (n.773+40del) n.785+40del c.520-7del (n.520-7del) | |
Y | g.12735768G>C | CA2766240757 | USP9Y | c.773+41G>C (n.773+41G>C) n.785+41G>C c.520-6G>C (n.520-6G>C) | |
Y | g.12735768G>T | CA2840064470 | USP9Y | c.773+41G>T (n.773+41G>T) n.785+41G>T c.520-6G>T (n.520-6G>T) |