Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12735662G>ACA519865189USP9Yc.708G>A (p.Gln236=)
n.720G>A
c.474G>A (p.Gln158=)
Yg.12735662G>CCA414984328USP9Yc.708G>C (p.Gln236His)
n.720G>C
c.474G>C (p.Gln158His)
Yg.12735662G>TCA414984332USP9Yc.708G>T (p.Gln236His)
n.720G>T
c.474G>T (p.Gln158His)
Yg.12735663A>CCA414984337USP9Yc.709A>C (p.Ile237Leu)
n.721A>C
c.475A>C (p.Ile159Leu)
Yg.12735663A>GCA414984341USP9Yc.709A>G (p.Ile237Val)
n.721A>G
c.475A>G (p.Ile159Val)
Yg.12735663A>TCA414984338USP9Yc.709A>T (p.Ile237Phe)
n.721A>T
c.475A>T (p.Ile159Phe)
Yg.12735664T>ACA414984347USP9Yc.710T>A (p.Ile237Asn)
n.722T>A
c.476T>A (p.Ile159Asn)
Yg.12735664T>CCA414984356USP9Yc.710T>C (p.Ile237Thr)
n.722T>C
c.476T>C (p.Ile159Thr)
Yg.12735664T>GCA414984360USP9Yc.710T>G (p.Ile237Ser)
n.722T>G
c.476T>G (p.Ile159Ser)
Yg.12735665T>ACA519865266USP9Yc.711T>A (p.Ile237=)
n.723T>A
c.477T>A (p.Ile159=)
Yg.12735665T>CCA519865270USP9Yc.711T>C (p.Ile237=)
n.723T>C
c.477T>C (p.Ile159=)
Yg.12735665T>GCA414984364USP9Yc.711T>G (p.Ile237Met)
n.723T>G
c.477T>G (p.Ile159Met)
Yg.12735666T>ACA414984365USP9Yc.712T>A (p.Leu238Met)
n.724T>A
c.478T>A (p.Leu160Met)
Yg.12735666T>CCA519865283USP9Yc.712T>C (p.Leu238=)
n.724T>C
c.478T>C (p.Leu160=)
Yg.12735666T>GCA414984366USP9Yc.712T>G (p.Leu238Val)
n.724T>G
c.478T>G (p.Leu160Val)
Yg.12735667T>ACA414984370USP9Yc.713T>A (p.Leu238Ter)
n.725T>A
c.479T>A (p.Leu160Ter)
Yg.12735667T>CCA414984375USP9Yc.713T>C (p.Leu238Ser)
n.725T>C
c.479T>C (p.Leu160Ser)
Yg.12735667T>GCA414984388USP9Yc.713T>G (p.Leu238Trp)
n.725T>G
c.479T>G (p.Leu160Trp)
Yg.12735668G>ACA519865296USP9Yc.714G>A (p.Leu238=)
n.726G>A
c.480G>A (p.Leu160=)
Yg.12735668G>CCA414984391USP9Yc.714G>C (p.Leu238Phe)
n.726G>C
c.480G>C (p.Leu160Phe)
Yg.12735668G>TCA414984394USP9Yc.714G>T (p.Leu238Phe)
n.726G>T
c.480G>T (p.Leu160Phe)
Yg.12735669C>ACA414984408USP9Yc.715C>A (p.His239Asn)
n.727C>A
c.481C>A (p.His161Asn)
Yg.12735669C=CA2470555341USP9Yc.715C= (p.His239=)
n.727C=
c.481C= (p.His161=)
Yg.12735669C>GCA414984402USP9Yc.715C>G (p.His239Asp)
n.727C>G
c.481C>G (p.His161Asp)
Yg.12735669C>TCA10573059USP9Yc.715C>T (p.His239Tyr)
n.727C>T
c.481C>T (p.His161Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12735670A>CCA414984411USP9Yc.716A>C (p.His239Pro)
n.728A>C
c.482A>C (p.His161Pro)
Yg.12735670A>GCA414984413USP9Yc.716A>G (p.His239Arg)
n.728A>G
c.482A>G (p.His161Arg)
Yg.12735670A>TCA414984415USP9Yc.716A>T (p.His239Leu)
n.728A>T
c.482A>T (p.His161Leu)
Yg.12735671T>ACA414984416USP9Yc.717T>A (p.His239Gln)
n.729T>A
c.483T>A (p.His161Gln)
Yg.12735671T>CCA519865332USP9Yc.717T>C (p.His239=)
n.729T>C
c.483T>C (p.His161=)
Yg.12735671T>GCA414984417USP9Yc.717T>G (p.His239Gln)
n.729T>G
c.483T>G (p.His161Gln)
Yg.12735672G>ACA414984420USP9Yc.718G>A (p.Asp240Asn)
n.730G>A
c.484G>A (p.Asp162Asn)
Yg.12735672G>CCA414984423USP9Yc.718G>C (p.Asp240His)
n.730G>C
c.484G>C (p.Asp162His)
Yg.12735672G>TCA414984425USP9Yc.718G>T (p.Asp240Tyr)
n.730G>T
c.484G>T (p.Asp162Tyr)
Yg.12735673A>CCA414984429USP9Yc.719A>C (p.Asp240Ala)
n.731A>C
c.485A>C (p.Asp162Ala)
Yg.12735673A>GCA414984434USP9Yc.719A>G (p.Asp240Gly)
n.731A>G
c.485A>G (p.Asp162Gly)
Yg.12735673A>TCA414984446USP9Yc.719A>T (p.Asp240Val)
n.731A>T
c.485A>T (p.Asp162Val)
Yg.12735674T>ACA414984453USP9Yc.720T>A (p.Asp240Glu)
n.732T>A
c.486T>A (p.Asp162Glu)
Yg.12735674T>CCA519865350USP9Yc.720T>C (p.Asp240=)
n.732T>C
c.486T>C (p.Asp162=)
Yg.12735674T>GCA414984449USP9Yc.720T>G (p.Asp240Glu)
n.732T>G
c.486T>G (p.Asp162Glu)
Yg.12735675C>ACA414984460USP9Yc.721C>A (p.Arg241Ser)
n.733C>A
c.487C>A (p.Arg163Ser)
Yg.12735675C>GCA414984465USP9Yc.721C>G (p.Arg241Gly)
n.733C>G
c.487C>G (p.Arg163Gly)
Yg.12735675C>TCA414984463USP9Yc.721C>T (p.Arg241Cys)
n.733C>T
c.487C>T (p.Arg163Cys)
Yg.12735676delCA2766240752USP9Yc.722del (p.Arg241LeufsTer8)
n.734del
c.488del (p.Arg163LeufsTer8)
Yg.12735676G>ACA10573060USP9Yc.722G>A (p.Arg241His)
n.734G>A
c.488G>A (p.Arg163His)
dbSNP ExAC gnomAD v2
Yg.12735676G>CCA414984470USP9Yc.722G>C (p.Arg241Pro)
n.734G>C
c.488G>C (p.Arg163Pro)
Yg.12735676G=CA2470555342USP9Yc.722G= (p.Arg241=)
n.734G=
c.488G= (p.Arg163=)
Yg.12735676G>TCA414984473USP9Yc.722G>T (p.Arg241Leu)
n.734G>T
c.488G>T (p.Arg163Leu)
Yg.12735677T>ACA519865392USP9Yc.723T>A (p.Arg241=)
n.735T>A
c.489T>A (p.Arg163=)
Yg.12735677T>CCA519865391USP9Yc.723T>C (p.Arg241=)
n.735T>C
c.489T>C (p.Arg163=)
Yg.12735677T>GCA519865388USP9Yc.723T>G (p.Arg241=)
n.735T>G
c.489T>G (p.Arg163=)
Yg.12735683dupCA1139600272USP9Yc.729dup (p.Asn244Ter)
n.741dup
c.495dup (p.Asn166Ter)
Yg.12735683delCA519865389USP9Yc.729del (p.Phe243LeufsTer6)
n.741del
c.495del (p.Phe165LeufsTer6)
COSMIC
Yg.12735678T>ACA414984480USP9Yc.724T>A (p.Phe242Ile)
n.736T>A
c.490T>A (p.Phe164Ile)
Yg.12735678T>CCA414984484USP9Yc.724T>C (p.Phe242Leu)
n.736T>C
c.490T>C (p.Phe164Leu)
Yg.12735678T>GCA414984489USP9Yc.724T>G (p.Phe242Val)
n.736T>G
c.490T>G (p.Phe164Val)
Yg.12735679T>ACA414984497USP9Yc.725T>A (p.Phe242Tyr)
n.737T>A
c.491T>A (p.Phe164Tyr)
Yg.12735679T>CCA414984498USP9Yc.725T>C (p.Phe242Ser)
n.737T>C
c.491T>C (p.Phe164Ser)
Yg.12735679T>GCA414984511USP9Yc.725T>G (p.Phe242Cys)
n.737T>G
c.491T>G (p.Phe164Cys)
Yg.12735680T>ACA414984512USP9Yc.726T>A (p.Phe242Leu)
n.738T>A
c.492T>A (p.Phe164Leu)
Yg.12735680T>CCA519865421USP9Yc.726T>C (p.Phe242=)
n.738T>C
c.492T>C (p.Phe164=)
Yg.12735680T>GCA414984513USP9Yc.726T>G (p.Phe242Leu)
n.738T>G
c.492T>G (p.Phe164Leu)
Yg.12735681T>ACA414984532USP9Yc.727T>A (p.Phe243Ile)
n.739T>A
c.493T>A (p.Phe165Ile)
Yg.12735681T>CCA414984516USP9Yc.727T>C (p.Phe243Leu)
n.739T>C
c.493T>C (p.Phe165Leu)
Yg.12735681T>GCA414984526USP9Yc.727T>G (p.Phe243Val)
n.739T>G
c.493T>G (p.Phe165Val)
Yg.12735682T>ACA414984538USP9Yc.728T>A (p.Phe243Tyr)
n.740T>A
c.494T>A (p.Phe165Tyr)
Yg.12735682T>CCA414984541USP9Yc.728T>C (p.Phe243Ser)
n.740T>C
c.494T>C (p.Phe165Ser)
Yg.12735682T>GCA414984546USP9Yc.728T>G (p.Phe243Cys)
n.740T>G
c.494T>G (p.Phe165Cys)
Yg.12735683T>ACA414984549USP9Yc.729T>A (p.Phe243Leu)
n.741T>A
c.495T>A (p.Phe165Leu)
Yg.12735683T>CCA519865470USP9Yc.729T>C (p.Phe243=)
n.741T>C
c.495T>C (p.Phe165=)
Yg.12735683T>GCA414984550USP9Yc.729T>G (p.Phe243Leu)
n.741T>G
c.495T>G (p.Phe165Leu)
Yg.12735684A=CA2470555343USP9Yc.730A= (p.Asn244=)
n.742A=
c.496A= (p.Asn166=)
Yg.12735684A>CCA414984555USP9Yc.730A>C (p.Asn244His)
n.742A>C
c.496A>C (p.Asn166His)
Yg.12735684A>GCA10573061USP9Yc.730A>G (p.Asn244Asp)
n.742A>G
c.496A>G (p.Asn166Asp)
dbSNP ExAC gnomAD v2
Yg.12735684A>TCA414984556USP9Yc.730A>T (p.Asn244Tyr)
n.742A>T
c.496A>T (p.Asn166Tyr)
Yg.12735685A>CCA414984558USP9Yc.731A>C (p.Asn244Thr)
n.743A>C
c.497A>C (p.Asn166Thr)
Yg.12735685A>GCA414984561USP9Yc.731A>G (p.Asn244Ser)
n.743A>G
c.497A>G (p.Asn166Ser)
Yg.12735685A>TCA414984564USP9Yc.731A>T (p.Asn244Ile)
n.743A>T
c.497A>T (p.Asn166Ile)
Yg.12735686T>ACA414984579USP9Yc.732T>A (p.Asn244Lys)
n.744T>A
c.498T>A (p.Asn166Lys)
Yg.12735686T>CCA519865498USP9Yc.732T>C (p.Asn244=)
n.744T>C
c.498T>C (p.Asn166=)
Yg.12735686T>GCA414984568USP9Yc.732T>G (p.Asn244Lys)
n.744T>G
c.498T>G (p.Asn166Lys)
Yg.12735687G>ACA414984584USP9Yc.733G>A (p.Gly245Arg)
n.745G>A
c.499G>A (p.Gly167Arg)
Yg.12735687G>CCA414984585USP9Yc.733G>C (p.Gly245Arg)
n.745G>C
c.499G>C (p.Gly167Arg)
Yg.12735687G>TCA414984587USP9Yc.733G>T (p.Gly245Ter)
n.745G>T
c.499G>T (p.Gly167Ter)
Yg.12735688G>ACA414984590USP9Yc.734G>A (p.Gly245Glu)
n.746G>A
c.500G>A (p.Gly167Glu)
Yg.12735688G>CCA414984598USP9Yc.734G>C (p.Gly245Ala)
n.746G>C
c.500G>C (p.Gly167Ala)
Yg.12735688G>TCA414984601USP9Yc.734G>T (p.Gly245Val)
n.746G>T
c.500G>T (p.Gly167Val)
Yg.12735689A>CCA519865524USP9Yc.735A>C (p.Gly245=)
n.747A>C
c.501A>C (p.Gly167=)
Yg.12735689A>GCA519865529USP9Yc.735A>G (p.Gly245=)
n.747A>G
c.501A>G (p.Gly167=)
Yg.12735689A>TCA519865530USP9Yc.735A>T (p.Gly245=)
n.747A>T
c.501A>T (p.Gly167=)
Yg.12735690T>ACA414984608USP9Yc.736T>A (p.Ser246Thr)
n.748T>A
c.502T>A (p.Ser168Thr)
Yg.12735690T>CCA414984614USP9Yc.736T>C (p.Ser246Pro)
n.748T>C
c.502T>C (p.Ser168Pro)
Yg.12735690T>GCA414984618USP9Yc.736T>G (p.Ser246Ala)
n.748T>G
c.502T>G (p.Ser168Ala)
Yg.12735691C>ACA414984620USP9Yc.737C>A (p.Ser246Ter)
n.749C>A
c.503C>A (p.Ser168Ter)
Yg.12735691C>GCA414984622USP9Yc.737C>G (p.Ser246Ter)
n.749C>G
c.503C>G (p.Ser168Ter)
Yg.12735691C>TCA414984628USP9Yc.737C>T (p.Ser246Leu)
n.749C>T
c.503C>T (p.Ser168Leu)
Yg.12735692A>CCA519865550USP9Yc.738A>C (p.Ser246=)
n.750A>C
c.504A>C (p.Ser168=)
Yg.12735692A>GCA519865554USP9Yc.738A>G (p.Ser246=)
n.750A>G
c.504A>G (p.Ser168=)
Yg.12735692A>TCA519865558USP9Yc.738A>T (p.Ser246=)
n.750A>T
c.504A>T (p.Ser168=)
Yg.12735693G>ACA414984641USP9Yc.739G>A (p.Ala247Thr)
n.751G>A
c.505G>A (p.Ala169Thr)
Yg.12735693G>CCA414984639USP9Yc.739G>C (p.Ala247Pro)
n.751G>C
c.505G>C (p.Ala169Pro)
Yg.12735693G>TCA414984636USP9Yc.739G>T (p.Ala247Ser)
n.751G>T
c.505G>T (p.Ala169Ser)
Yg.12735694C>ACA414984645USP9Yc.740C>A (p.Ala247Glu)
n.752C>A
c.506C>A (p.Ala169Glu)
Yg.12735694C>GCA414984650USP9Yc.740C>G (p.Ala247Gly)
n.752C>G
c.506C>G (p.Ala169Gly)
Yg.12735694C>TCA414984653USP9Yc.740C>T (p.Ala247Val)
n.752C>T
c.506C>T (p.Ala169Val)
Yg.12735695A>CCA519865585USP9Yc.741A>C (p.Ala247=)
n.753A>C
c.507A>C (p.Ala169=)
Yg.12735695A>GCA519865589USP9Yc.741A>G (p.Ala247=)
n.753A>G
c.507A>G (p.Ala169=)
Yg.12735695A>TCA519865591USP9Yc.741A>T (p.Ala247=)
n.753A>T
c.507A>T (p.Ala169=)
Yg.12735696T>ACA414984654USP9Yc.742T>A (p.Leu248Ile)
n.754T>A
c.508T>A (p.Leu170Ile)
Yg.12735696T>CCA519865595USP9Yc.742T>C (p.Leu248=)
n.754T>C
c.508T>C (p.Leu170=)
Yg.12735696T>GCA414984657USP9Yc.742T>G (p.Leu248Val)
n.754T>G
c.508T>G (p.Leu170Val)
Yg.12735697T>ACA414984661USP9Yc.743T>A (p.Leu248Ter)
n.755T>A
c.509T>A (p.Leu170Ter)
Yg.12735697T>CCA414984662USP9Yc.743T>C (p.Leu248Ser)
n.755T>C
c.509T>C (p.Leu170Ser)
Yg.12735697T>GCA414984663USP9Yc.743T>G (p.Leu248Ter)
n.755T>G
c.509T>G (p.Leu170Ter)
Yg.12735698A>CCA414984665USP9Yc.744A>C (p.Leu248Phe)
n.756A>C
c.510A>C (p.Leu170Phe)
Yg.12735698A>GCA519865613USP9Yc.744A>G (p.Leu248=)
n.756A>G
c.510A>G (p.Leu170=)
Yg.12735698A>TCA414984668USP9Yc.744A>T (p.Leu248Phe)
n.756A>T
c.510A>T (p.Leu170Phe)
Yg.12735699A>CCA414984676USP9Yc.745A>C (p.Asn249His)
n.757A>C
c.511A>C (p.Asn171His)
Yg.12735699A>GCA414984679USP9Yc.745A>G (p.Asn249Asp)
n.757A>G
c.511A>G (p.Asn171Asp)
Yg.12735699A>TCA414984684USP9Yc.745A>T (p.Asn249Tyr)
n.757A>T
c.511A>T (p.Asn171Tyr)
Yg.12735700A>CCA414984702USP9Yc.746A>C (p.Asn249Thr)
n.758A>C
c.512A>C (p.Asn171Thr)
Yg.12735700A>GCA414984716USP9Yc.746A>G (p.Asn249Ser)
n.758A>G
c.512A>G (p.Asn171Ser)
Yg.12735700A>TCA414984698USP9Yc.746A>T (p.Asn249Ile)
n.758A>T
c.512A>T (p.Asn171Ile)
Yg.12735701T>ACA414984721USP9Yc.747T>A (p.Asn249Lys)
n.759T>A
c.513T>A (p.Asn171Lys)
Yg.12735701T>CCA10573062USP9Yc.747T>C (p.Asn249=)
n.759T>C
c.513T>C (p.Asn171=)
dbSNP ExAC gnomAD v2
Yg.12735701T>GCA414984734USP9Yc.747T>G (p.Asn249Lys)
n.759T>G
c.513T>G (p.Asn171Lys)
Yg.12735701T=CA2470555344USP9Yc.747T= (p.Asn249=)
n.759T=
c.513T= (p.Asn171=)
Yg.12735702A>CCA414984750USP9Yc.748A>C (p.Ile250Leu)
n.760A>C
c.514A>C (p.Ile172Leu)
Yg.12735702A>GCA414984755USP9Yc.748A>G (p.Ile250Val)
n.760A>G
c.514A>G (p.Ile172Val)
Yg.12735702A>TCA414984759USP9Yc.748A>T (p.Ile250Phe)
n.760A>T
c.514A>T (p.Ile172Phe)
Yg.12735703T>ACA414984765USP9Yc.749T>A (p.Ile250Asn)
n.761T>A
c.515T>A (p.Ile172Asn)
Yg.12735703T>CCA414984769USP9Yc.749T>C (p.Ile250Thr)
n.761T>C
c.515T>C (p.Ile172Thr)
Yg.12735703T>GCA414984773USP9Yc.749T>G (p.Ile250Ser)
n.761T>G
c.515T>G (p.Ile172Ser)
Yg.12735704T>ACA519865684USP9Yc.750T>A (p.Ile250=)
n.762T>A
c.516T>A (p.Ile172=)
Yg.12735704T>CCA519865715USP9Yc.750T>C (p.Ile250=)
n.762T>C
c.516T>C (p.Ile172=)
Yg.12735704T>GCA414984779USP9Yc.750T>G (p.Ile250Met)
n.762T>G
c.516T>G (p.Ile172Met)
Yg.12735705C>ACA414984783USP9Yc.751C>A (p.Gln251Lys)
n.763C>A
c.517C>A (p.Gln173Lys)
Yg.12735705C>GCA414984784USP9Yc.751C>G (p.Gln251Glu)
n.763C>G
c.517C>G (p.Gln173Glu)
Yg.12735705C>TCA414984785USP9Yc.751C>T (p.Gln251Ter)
n.763C>T
c.517C>T (p.Gln173Ter)
Yg.12735706A>CCA414984794USP9Yc.752A>C (p.Gln251Pro)
n.764A>C
c.518A>C (p.Gln173Pro)
Yg.12735706A>GCA414984788USP9Yc.752A>G (p.Gln251Arg)
n.764A>G
c.518A>G (p.Gln173Arg)
Yg.12735706A>TCA414984791USP9Yc.752A>T (p.Gln251Leu)
n.764A>T
c.518A>T (p.Gln173Leu)
Yg.12735707A>CCA414984799USP9Yc.753A>C (p.Gln251His)
n.765A>C
c.519A>C (p.Gln173His)
Yg.12735707A>GCA519865736USP9Yc.753A>G (p.Gln251=)
n.765A>G
c.519A>G (p.Gln173=)
Yg.12735707A>TCA414984806USP9Yc.753A>T (p.Gln251His)
n.765A>T
c.519A>T (p.Gln173His)
Yg.12735708A>CCA414984811USP9Yc.754A>C (p.Ile252Leu)
n.766A>C
c.519+1A>C (n.519+1A>C)
Yg.12735708A>GCA414984814USP9Yc.754A>G (p.Ile252Val)
n.766A>G
c.519+1A>G (n.519+1A>G)
Yg.12735708A>TCA414984818USP9Yc.754A>T (p.Ile252Leu)
n.766A>T
c.519+1A>T (n.519+1A>T)
Yg.12735709T>ACA414984821USP9Yc.755T>A (p.Ile252Lys)
n.767T>A
c.519+2T>A (n.519+2T>A)
Yg.12735709T>CCA414984825USP9Yc.755T>C (p.Ile252Thr)
n.767T>C
c.519+2T>C (n.519+2T>C)
Yg.12735709T>GCA414984828USP9Yc.755T>G (p.Ile252Arg)
n.767T>G
c.519+2T>G (n.519+2T>G)
Yg.12735710A=CA2470555345USP9Yc.756A= (p.Ile252=)
n.768A=
c.519+3A= (n.519+3A=)
Yg.12735710A>CCA10573063USP9Yc.756A>C (p.Ile252=)
n.768A>C
c.519+3A>C (n.519+3A>C)
dbSNP ExAC gnomAD v2
Yg.12735710A>GCA414984835USP9Yc.756A>G (p.Ile252Met)
n.768A>G
c.519+3A>G (n.519+3A>G)
Yg.12735710A>TCA519865776USP9Yc.756A>T (p.Ile252=)
n.768A>T
c.519+3A>T (n.519+3A>T)
Yg.12735711A>CCA414984846USP9Yc.757A>C (p.Ile253Leu)
n.769A>C
c.519+4A>C (n.519+4A>C)
Yg.12735711A>GCA414984849USP9Yc.757A>G (p.Ile253Val)
n.769A>G
c.519+4A>G (n.519+4A>G)
Yg.12735711A>TCA414984842USP9Yc.757A>T (p.Ile253Phe)
n.769A>T
c.519+4A>T (n.519+4A>T)
Yg.12735712T>ACA414984855USP9Yc.758T>A (p.Ile253Asn)
n.770T>A
c.519+5T>A (n.519+5T>A)
Yg.12735712T>CCA414984859USP9Yc.758T>C (p.Ile253Thr)
n.770T>C
c.519+5T>C (n.519+5T>C)
Yg.12735712T>GCA414984860USP9Yc.758T>G (p.Ile253Ser)
n.770T>G
c.519+5T>G (n.519+5T>G)
Yg.12735713T>ACA519865794USP9Yc.759T>A (p.Ile253=)
n.771T>A
c.519+6T>A (n.519+6T>A)
Yg.12735713T>CCA519865801USP9Yc.759T>C (p.Ile253=)
n.771T>C
c.519+6T>C (n.519+6T>C)
Yg.12735713T>GCA414984861USP9Yc.759T>G (p.Ile253Met)
n.771T>G
c.519+6T>G (n.519+6T>G)
Yg.12735714G>ACA414984874USP9Yc.760G>A (p.Ala254Thr)
n.772G>A
c.519+7G>A (n.519+7G>A)
Yg.12735714G>CCA414984870USP9Yc.760G>C (p.Ala254Pro)
n.772G>C
c.519+7G>C (n.519+7G>C)
Yg.12735714G>TCA414984864USP9Yc.760G>T (p.Ala254Ser)
n.772G>T
c.519+7G>T (n.519+7G>T)
Yg.12735715C>ACA414984883USP9Yc.761C>A (p.Ala254Glu)
n.773C>A
c.519+8C>A (n.519+8C>A)
Yg.12735715C>GCA414984886USP9Yc.761C>G (p.Ala254Gly)
n.773C>G
c.519+8C>G (n.519+8C>G)
Yg.12735715C>TCA414984893USP9Yc.761C>T (p.Ala254Val)
n.773C>T
c.519+8C>T (n.519+8C>T)
Yg.12735716A>CCA519865812USP9Yc.762A>C (p.Ala254=)
n.774A>C
c.519+9A>C (n.519+9A>C)
Yg.12735716A>GCA519865815USP9Yc.762A>G (p.Ala254=)
n.774A>G
c.519+9A>G (n.519+9A>G)
Yg.12735716A>TCA519865818USP9Yc.762A>T (p.Ala254=)
n.774A>T
c.519+9A>T (n.519+9A>T)
Yg.12735717G>ACA414984896USP9Yc.763G>A (p.Ala255Thr)
n.775G>A
c.519+10G>A (n.519+10G>A)
Yg.12735717G>CCA414984901USP9Yc.763G>C (p.Ala255Pro)
n.775G>C
c.519+10G>C (n.519+10G>C)
Yg.12735717G>TCA414984905USP9Yc.763G>T (p.Ala255Ser)
n.775G>T
c.519+10G>T (n.519+10G>T)
Yg.12735718C>ACA414984911USP9Yc.764C>A (p.Ala255Asp)
n.776C>A
c.519+11C>A (n.519+11C>A)
Yg.12735718C>GCA414984919USP9Yc.764C>G (p.Ala255Gly)
n.776C>G
c.519+11C>G (n.519+11C>G)
Yg.12735718C>TCA414984915USP9Yc.764C>T (p.Ala255Val)
n.776C>T
c.519+11C>T (n.519+11C>T)
Yg.12735719T>ACA519865849USP9Yc.765T>A (p.Ala255=)
n.777T>A
c.519+12T>A (n.519+12T>A)
Yg.12735719T>CCA519865855USP9Yc.765T>C (p.Ala255=)
n.777T>C
c.519+12T>C (n.519+12T>C)
Yg.12735719T>GCA519865850USP9Yc.765T>G (p.Ala255=)
n.777T>G
c.519+12T>G (n.519+12T>G)
Yg.12735720C>ACA414984923USP9Yc.766C>A (p.Leu256Ile)
n.778C>A
c.519+13C>A (n.519+13C>A)
Yg.12735720C>GCA414984926USP9Yc.766C>G (p.Leu256Val)
n.778C>G
c.519+13C>G (n.519+13C>G)
Yg.12735720C>TCA414984929USP9Yc.766C>T (p.Leu256Phe)
n.778C>T
c.519+13C>T (n.519+13C>T)
Yg.12735720_12735723delinsCTTACA2470555346USP9Yc.766_769delinsCTTA (p.Leu256=)
n.778_781delinsCTTA
c.519+13_519+16delinsCTTA (n.519+13_519+16delinsCTTA)
Yg.12735721T>ACA414984942USP9Yc.767T>A (p.Leu256His)
n.779T>A
c.519+14T>A (n.519+14T>A)
Yg.12735721T>CCA414984943USP9Yc.767T>C (p.Leu256Pro)
n.779T>C
c.519+14T>C (n.519+14T>C)
Yg.12735721T>GCA414984946USP9Yc.767T>G (p.Leu256Arg)
n.779T>G
c.519+14T>G (n.519+14T>G)
Yg.12735722delCA2579747616USP9Yc.768del (p.Ile257LeufsTer16)
n.780del
c.519+15del (n.519+15del)
Yg.12735724_12735726delCA10573064USP9Yc.770_772del (p.Ile257del)
n.782_784del
c.519+17_519+19del (n.519+17_519+19del)
dbSNP ExAC gnomAD v2
Yg.12735722T>ACA519865884USP9Yc.768T>A (p.Leu256=)
n.780T>A
c.519+15T>A (n.519+15T>A)
Yg.12735722T>CCA519865888USP9Yc.768T>C (p.Leu256=)
n.780T>C
c.519+15T>C (n.519+15T>C)
Yg.12735722T>GCA519865892USP9Yc.768T>G (p.Leu256=)
n.780T>G
c.519+15T>G (n.519+15T>G)
Yg.12735723A>CCA414984951USP9Yc.769A>C (p.Ile257Leu)
n.781A>C
c.519+16A>C (n.519+16A>C)
Yg.12735723A>GCA414984954USP9Yc.769A>G (p.Ile257Val)
n.781A>G
c.519+16A>G (n.519+16A>G)
Yg.12735723A>TCA414984959USP9Yc.769A>T (p.Ile257Phe)
n.781A>T
c.519+16A>T (n.519+16A>T)
Yg.12735724T>ACA414984964USP9Yc.770T>A (p.Ile257Asn)
n.782T>A
c.519+17T>A (n.519+17T>A)
Yg.12735724T>CCA414984968USP9Yc.770T>C (p.Ile257Thr)
n.782T>C
c.519+17T>C (n.519+17T>C)
Yg.12735724T>GCA414984966USP9Yc.770T>G (p.Ile257Ser)
n.782T>G
c.519+17T>G (n.519+17T>G)
Yg.12735724_12735728delinsTTAAGCA2470555347USP9Yc.770_773+1delinsTTAAG
n.782_785+1delinsTTAAG
c.519+17_519+21delinsTTAAG (n.519+17_519+21delinsTTAAG)
Yg.12735725T>ACA519865916USP9Yc.771T>A (p.Ile257=)
n.783T>A
c.519+18T>A (n.519+18T>A)
Yg.12735725T>CCA519865924USP9Yc.771T>C (p.Ile257=)
n.783T>C
c.519+18T>C (n.519+18T>C)
Yg.12735725T>GCA414984971USP9Yc.771T>G (p.Ile257Met)
n.783T>G
c.519+18T>G (n.519+18T>G)
Yg.12735730_12735733delCA10573065USP9Yc.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
Yg.12735726A>CCA414984974USP9Yc.772A>C (p.Lys258Gln)
n.784A>C
c.519+19A>C (n.519+19A>C)
Yg.12735726A>GCA414984980USP9Yc.772A>G (p.Lys258Glu)
n.784A>G
c.519+19A>G (n.519+19A>G)
Yg.12735726A>TCA414984976USP9Yc.772A>T (p.Lys258Ter)
n.784A>T
c.519+19A>T (n.519+19A>T)
Yg.12735727A>CCA414984984USP9Yc.773A>C (p.Lys258Thr)
n.785A>C
c.519+20A>C (n.519+20A>C)
Yg.12735727A>GCA414984989USP9Yc.773A>G (p.Lys258Arg)
n.785A>G
c.519+20A>G (n.519+20A>G)
Yg.12735727A>TCA414984987USP9Yc.773A>T (p.Lys258Ile)
n.785A>T
c.519+20A>T (n.519+20A>T)
Yg.12735728G>ACA414984993USP9Yc.773+1G>A (n.773+1G>A)
n.785+1G>A
c.519+21G>A (n.519+21G>A)
Yg.12735728G>CCA414985005USP9Yc.773+1G>C (n.773+1G>C)
n.785+1G>C
c.519+21G>C (n.519+21G>C)
Yg.12735728G>TCA414985010USP9Yc.773+1G>T (n.773+1G>T)
n.785+1G>T
c.519+21G>T (n.519+21G>T)
Yg.12735729T>ACA414985015USP9Yc.773+2T>A (n.773+2T>A)
n.785+2T>A
c.519+22T>A (n.519+22T>A)
Yg.12735729T>CCA414985019USP9Yc.773+2T>C (n.773+2T>C)
n.785+2T>C
c.519+22T>C (n.519+22T>C)
Yg.12735729T>GCA414985022USP9Yc.773+2T>G (n.773+2T>G)
n.785+2T>G
c.519+22T>G (n.519+22T>G)
Yg.12735734T>ACA2766240753USP9Yc.773+7T>A (n.773+7T>A)
n.785+7T>A
c.519+27T>A (n.519+27T>A)
Yg.12735735A>TCA2766240754USP9Yc.773+8A>T (n.773+8A>T)
n.785+8A>T
c.519+28A>T (n.519+28A>T)
Yg.12735743delCA2526145446USP9Yc.773+16del (n.773+16del)
n.785+16del
c.520-31del (n.520-31del)
Yg.12735743A=CA2470555348USP9Yc.773+16A= (n.773+16A=)
n.785+16A=
c.520-31A= (n.520-31A=)
Yg.12735743A>GCA10573066USP9Yc.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
Yg.12735745G>ACA2579747617USP9Yc.773+18G>A (n.773+18G>A)
n.785+18G>A
c.520-29G>A (n.520-29G>A)
Yg.12735746T>GCA2766240755USP9Yc.773+19T>G (n.773+19T>G)
n.785+19T>G
c.520-28T>G (n.520-28T>G)
Yg.12735747T>CCA2508226001USP9Yc.773+20T>C (n.773+20T>C)
n.785+20T>C
c.520-27T>C (n.520-27T>C)
Yg.12735762A>TCA2766240756USP9Yc.773+35A>T (n.773+35A>T)
n.785+35A>T
c.520-12A>T (n.520-12A>T)

Number of alleles fetched