Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.40471964_40472061delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTACA2171795340CHST14c.751_848delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA (p.Pro251=)
c.676_773delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA (p.Pro226=)
15g.40471968_40472064delCA16619922CHST14c.755_851del (p.Ser252ThrfsTer?)
c.680_776del (p.Ser227ThrfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.40472054C>ACA391767453CHST14c.841C>A (p.Pro281Thr)
c.766C>A (p.Pro256Thr)
15g.40472054C=CA2171795377CHST14c.841C= (p.Pro281=)
c.766C= (p.Pro256=)
15g.40472054C>GCA391767454CHST14c.841C>G (p.Pro281Ala)
c.766C>G (p.Pro256Ala)
15g.40472054C>TCA391767450CHST14c.841C>T (p.Pro281Ser)
c.766C>T (p.Pro256Ser)
 dbSNP gnomAD v3 gnomAD v4
15g.40472055C>ACA391767461CHST14c.842C>A (p.Pro281His)
c.767C>A (p.Pro256His)
15g.40472055C=CA2171795378CHST14c.842C= (p.Pro281=)
c.767C= (p.Pro256=)
15g.40472055C>GCA391767456CHST14c.842C>G (p.Pro281Arg)
c.767C>G (p.Pro256Arg)
15g.40472055C>TCA281526CHST14c.842C>T (p.Pro281Leu)
c.767C>T (p.Pro256Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.40472056C>ACA489975520CHST14c.843C>A (p.Pro281=)
c.768C>A (p.Pro256=)
15g.40472056C=CA2171795379CHST14c.843C= (p.Pro281=)
c.768C= (p.Pro256=)
15g.40472056C>GCA489975521CHST14c.843C>G (p.Pro281=)
c.768C>G (p.Pro256=)
 gnomAD v4
15g.40472056C>TCA7481655CHST14c.843C>T (p.Pro281=)
c.768C>T (p.Pro256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472057G>ACA391767471CHST14c.844G>A (p.Val282Met)
c.769G>A (p.Val257Met)
 gnomAD v4
15g.40472057G>CCA391767468CHST14c.844G>C (p.Val282Leu)
c.769G>C (p.Val257Leu)
15g.40472057G=CA2171795380CHST14c.844G= (p.Val282=)
c.769G= (p.Val257=)
15g.40472057G>TCA391767470CHST14c.844G>T (p.Val282Leu)
c.769G>T (p.Val257Leu)
 dbSNP
15g.40472058T>ACA391767473CHST14c.845T>A (p.Val282Glu)
c.770T>A (p.Val257Glu)
15g.40472058T>CCA391767474CHST14c.845T>C (p.Val282Ala)
c.770T>C (p.Val257Ala)
15g.40472058T>GCA391767475CHST14c.845T>G (p.Val282Gly)
c.770T>G (p.Val257Gly)
15g.40472059G>ACA7481656CHST14c.846G>A (p.Val282=)
c.771G>A (p.Val257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472059G>CCA268822864CHST14c.846G>C (p.Val282=)
c.771G>C (p.Val257=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472059G=CA2171795381CHST14c.846G= (p.Val282=)
c.771G= (p.Val257=)
15g.40472059G>TCA489975522CHST14c.846G>T (p.Val282=)
c.771G>T (p.Val257=)
15g.40472060T>ACA391767485CHST14c.847T>A (p.Tyr283Asn)
c.772T>A (p.Tyr258Asn)
 dbSNP gnomAD v2 gnomAD v4
15g.40472060T>CCA391767488CHST14c.847T>C (p.Tyr283His)
c.772T>C (p.Tyr258His)
15g.40472060T>GCA391767492CHST14c.847T>G (p.Tyr283Asp)
c.772T>G (p.Tyr258Asp)
15g.40472060T=CA2171795382CHST14c.847T= (p.Tyr283=)
c.772T= (p.Tyr258=)
15g.40472061A>CCA391767495CHST14c.848A>C (p.Tyr283Ser)
c.773A>C (p.Tyr258Ser)
15g.40472061A>GCA391767496CHST14c.848A>G (p.Tyr283Cys)
c.773A>G (p.Tyr258Cys)
15g.40472061A>TCA391767497CHST14c.848A>T (p.Tyr283Phe)
c.773A>T (p.Tyr258Phe)
15g.40472062C>ACA391767498CHST14c.849C>A (p.Tyr283Ter)
c.774C>A (p.Tyr258Ter)
15g.40472062C=CA2171795383CHST14c.849C= (p.Tyr283=)
c.774C= (p.Tyr258=)
15g.40472062C>GCA391767499CHST14c.849C>G (p.Tyr283Ter)
c.774C>G (p.Tyr258Ter)
 dbSNP
15g.40472062C>TCA489975523CHST14c.849C>T (p.Tyr283=)
c.774C>T (p.Tyr258=)
 ClinVar dbSNP
15g.40472063C>ACA391767500CHST14c.850C>A (p.His284Asn)
c.775C>A (p.His259Asn)
15g.40472063C=CA2171795384CHST14c.850C= (p.His284=)
c.775C= (p.His259=)
15g.40472063C>GCA391767501CHST14c.850C>G (p.His284Asp)
c.775C>G (p.His259Asp)
15g.40472063C>TCA7481657CHST14c.850C>T (p.His284Tyr)
c.775C>T (p.His259Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472064A>CCA391767505CHST14c.851A>C (p.His284Pro)
c.776A>C (p.His259Pro)
15g.40472064A>GCA391767506CHST14c.851A>G (p.His284Arg)
c.776A>G (p.His259Arg)
15g.40472064A>TCA391767507CHST14c.851A>T (p.His284Leu)
c.776A>T (p.His259Leu)
15g.40472065C>ACA391767511CHST14c.852C>A (p.His284Gln)
c.777C>A (p.His259Gln)
15g.40472065C=CA2171795385CHST14c.852C= (p.His284=)
c.777C= (p.His259=)
15g.40472065C>GCA391767515CHST14c.852C>G (p.His284Gln)
c.777C>G (p.His259Gln)
15g.40472065C>TCA7481658CHST14c.852C>T (p.His284=)
c.777C>T (p.His259=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472066C>ACA391767520CHST14c.853C>A (p.Leu285Met)
c.778C>A (p.Leu260Met)
 COSMIC
15g.40472066C>GCA391767522CHST14c.853C>G (p.Leu285Val)
c.778C>G (p.Leu260Val)
15g.40472066C>TCA489975524CHST14c.853C>T (p.Leu285=)
c.778C>T (p.Leu260=)
15g.40472067T>ACA391767528CHST14c.854T>A (p.Leu285Gln)
c.779T>A (p.Leu260Gln)
15g.40472067T>CCA391767531CHST14c.854T>C (p.Leu285Pro)
c.779T>C (p.Leu260Pro)
15g.40472067T>GCA391767527CHST14c.854T>G (p.Leu285Arg)
c.779T>G (p.Leu260Arg)
15g.40472068G>ACA489975525CHST14c.855G>A (p.Leu285=)
c.780G>A (p.Leu260=)
15g.40472068G>CCA489975526CHST14c.855G>C (p.Leu285=)
c.780G>C (p.Leu260=)
15g.40472068G>TCA489975527CHST14c.855G>T (p.Leu285=)
c.780G>T (p.Leu260=)
15g.40472069T>ACA391767535CHST14c.856T>A (p.Cys286Ser)
c.781T>A (p.Cys261Ser)
15g.40472069T>CCA391767539CHST14c.856T>C (p.Cys286Arg)
c.781T>C (p.Cys261Arg)
15g.40472069T>GCA391767541CHST14c.856T>G (p.Cys286Gly)
c.781T>G (p.Cys261Gly)
15g.40472070G>ACA391767543CHST14c.857G>A (p.Cys286Tyr)
c.782G>A (p.Cys261Tyr)
15g.40472070G>CCA391767556CHST14c.857G>C (p.Cys286Ser)
c.782G>C (p.Cys261Ser)
15g.40472070G>TCA391767560CHST14c.857G>T (p.Cys286Phe)
c.782G>T (p.Cys261Phe)
15g.40472071C>ACA391767566CHST14c.858C>A (p.Cys286Ter)
c.783C>A (p.Cys261Ter)
15g.40472071C>GCA391767562CHST14c.858C>G (p.Cys286Trp)
c.783C>G (p.Cys261Trp)
15g.40472071C>TCA489975528CHST14c.858C>T (p.Cys286=)
c.783C>T (p.Cys261=)
15g.40472072delCA2575679823CHST14c.859del (p.Gln287SerfsTer?)
c.784del (p.Gln262SerfsTer?)
15g.40472072C>ACA391767570CHST14c.859C>A (p.Gln287Lys)
c.784C>A (p.Gln262Lys)
15g.40472072C=CA2171795386CHST14c.859C= (p.Gln287=)
c.784C= (p.Gln262=)
15g.40472072C>GCA7481659CHST14c.859C>G (p.Gln287Glu)
c.784C>G (p.Gln262Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472072C>TCA391767577CHST14c.859C>T (p.Gln287Ter)
c.784C>T (p.Gln262Ter)
 dbSNP
15g.40472073A>CCA391767581CHST14c.860A>C (p.Gln287Pro)
c.785A>C (p.Gln262Pro)
15g.40472073A>GCA391767584CHST14c.860A>G (p.Gln287Arg)
c.785A>G (p.Gln262Arg)
15g.40472073A>TCA391767586CHST14c.860A>T (p.Gln287Leu)
c.785A>T (p.Gln262Leu)
15g.40472074G>ACA7481660CHST14c.861G>A (p.Gln287=)
c.786G>A (p.Gln262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472074G>CCA391767602CHST14c.861G>C (p.Gln287His)
c.786G>C (p.Gln262His)
15g.40472074G=CA2171795387CHST14c.861G= (p.Gln287=)
c.786G= (p.Gln262=)
15g.40472074G>TCA391767592CHST14c.861G>T (p.Gln287His)
c.786G>T (p.Gln262His)
15g.40472075C>ACA391767606CHST14c.862C>A (p.Pro288Thr)
c.787C>A (p.Pro263Thr)
15g.40472075C>GCA391767607CHST14c.862C>G (p.Pro288Ala)
c.787C>G (p.Pro263Ala)
15g.40472075C>TCA391767611CHST14c.862C>T (p.Pro288Ser)
c.787C>T (p.Pro263Ser)
15g.40472076C>ACA391767617CHST14c.863C>A (p.Pro288His)
c.788C>A (p.Pro263His)
15g.40472076C=CA2171795388CHST14c.863C= (p.Pro288=)
c.788C= (p.Pro263=)
15g.40472076C>GCA391767618CHST14c.863C>G (p.Pro288Arg)
c.788C>G (p.Pro263Arg)
15g.40472076C>TCA391767620CHST14c.863C>T (p.Pro288Leu)
c.788C>T (p.Pro263Leu)
 ClinVar dbSNP
15g.40472077T>ACA489975142CHST14c.864T>A (p.Pro288=)
c.789T>A (p.Pro263=)
15g.40472077T>CCA489975146CHST14c.864T>C (p.Pro288=)
c.789T>C (p.Pro263=)
15g.40472077T>GCA489975147CHST14c.864T>G (p.Pro288=)
c.789T>G (p.Pro263=)
15g.40472078T>ACA391767623CHST14c.865T>A (p.Cys289Ser)
c.790T>A (p.Cys264Ser)
15g.40472078T>CCA391767625CHST14c.865T>C (p.Cys289Arg)
c.790T>C (p.Cys264Arg)
15g.40472078T>GCA391767629CHST14c.865T>G (p.Cys289Gly)
c.790T>G (p.Cys264Gly)
15g.40472079G>ACA391767635CHST14c.866G>A (p.Cys289Tyr)
c.791G>A (p.Cys264Tyr)
15g.40472079G>CCA281531CHST14c.866G>C (p.Cys289Ser)
c.791G>C (p.Cys264Ser)
 ClinVar dbSNP
15g.40472079G=CA2171795389CHST14c.866G= (p.Cys289=)
c.791G= (p.Cys264=)
15g.40472079G>TCA391767640CHST14c.866G>T (p.Cys289Phe)
c.791G>T (p.Cys264Phe)
15g.40472080T>ACA391767641CHST14c.867T>A (p.Cys289Ter)
c.792T>A (p.Cys264Ter)
15g.40472080T>CCA489975153CHST14c.867T>C (p.Cys289=)
c.792T>C (p.Cys264=)
15g.40472080T>GCA391767644CHST14c.867T>G (p.Cys289Trp)
c.792T>G (p.Cys264Trp)
15g.40472081G>ACA391767647CHST14c.868G>A (p.Ala290Thr)
c.793G>A (p.Ala265Thr)
 gnomAD v4 COSMIC
15g.40472081G>CCA391767653CHST14c.868G>C (p.Ala290Pro)
c.793G>C (p.Ala265Pro)
15g.40472081G>TCA391767649CHST14c.868G>T (p.Ala290Ser)
c.793G>T (p.Ala265Ser)
15g.40472082C>ACA391767658CHST14c.869C>A (p.Ala290Asp)
c.794C>A (p.Ala265Asp)
15g.40472082C=CA2171795390CHST14c.869C= (p.Ala290=)
c.794C= (p.Ala265=)
15g.40472082C>GCA391767659CHST14c.869C>G (p.Ala290Gly)
c.794C>G (p.Ala265Gly)
 gnomAD v4
15g.40472082C>TCA7481661CHST14c.869C>T (p.Ala290Val)
c.794C>T (p.Ala265Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472083C>ACA489975158CHST14c.870C>A (p.Ala290=)
c.795C>A (p.Ala265=)
15g.40472083C=CA2171795391CHST14c.870C= (p.Ala290=)
c.795C= (p.Ala265=)
15g.40472083C>GCA489975161CHST14c.870C>G (p.Ala290=)
c.795C>G (p.Ala265=)
 gnomAD v4
15g.40472083C>TCA489975159CHST14c.870C>T (p.Ala290=)
c.795C>T (p.Ala265=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472084G>ACA7481662CHST14c.871G>A (p.Val291Met)
c.796G>A (p.Val266Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472084G>CCA391767668CHST14c.871G>C (p.Val291Leu)
c.796G>C (p.Val266Leu)
15g.40472084G=CA2171795392CHST14c.871G= (p.Val291=)
c.796G= (p.Val266=)
15g.40472084G>TCA391767671CHST14c.871G>T (p.Val291Leu)
c.796G>T (p.Val266Leu)
15g.40472085T>ACA391767674CHST14c.872T>A (p.Val291Glu)
c.797T>A (p.Val266Glu)
15g.40472085T>CCA391767677CHST14c.872T>C (p.Val291Ala)
c.797T>C (p.Val266Ala)
15g.40472085T>GCA391767678CHST14c.872T>G (p.Val291Gly)
c.797T>G (p.Val266Gly)
15g.40472086G>ACA489975164CHST14c.873G>A (p.Val291=)
c.798G>A (p.Val266=)
15g.40472086G>CCA489975165CHST14c.873G>C (p.Val291=)
c.798G>C (p.Val266=)
15g.40472086G>TCA489975166CHST14c.873G>T (p.Val291=)
c.798G>T (p.Val266=)
15g.40472087C>ACA391767691CHST14c.874C>A (p.His292Asn)
c.799C>A (p.His267Asn)
15g.40472087C>GCA391767693CHST14c.874C>G (p.His292Asp)
c.799C>G (p.His267Asp)
15g.40472087C>TCA391767702CHST14c.874C>T (p.His292Tyr)
c.799C>T (p.His267Tyr)
15g.40472088A>CCA391767704CHST14c.875A>C (p.His292Pro)
c.800A>C (p.His267Pro)
15g.40472088A>GCA391767709CHST14c.875A>G (p.His292Arg)
c.800A>G (p.His267Arg)
15g.40472088A>TCA391767707CHST14c.875A>T (p.His292Leu)
c.800A>T (p.His267Leu)
15g.40472089C>ACA391767714CHST14c.876C>A (p.His292Gln)
c.801C>A (p.His267Gln)
 gnomAD v4
15g.40472089C>GCA391767716CHST14c.876C>G (p.His292Gln)
c.801C>G (p.His267Gln)
15g.40472089C>TCA489975170CHST14c.876C>T (p.His292=)
c.801C>T (p.His267=)
15g.40472090T>ACA391767721CHST14c.877T>A (p.Tyr293Asn)
c.802T>A (p.Tyr268Asn)
15g.40472090T>CCA391767724CHST14c.877T>C (p.Tyr293His)
c.802T>C (p.Tyr268His)
 gnomAD v4
15g.40472090T>GCA391767726CHST14c.877T>G (p.Tyr293Asp)
c.802T>G (p.Tyr268Asp)
15g.40472091A=CA2171795393CHST14c.878A= (p.Tyr293=)
c.803A= (p.Tyr268=)
15g.40472091A>CCA391767734CHST14c.878A>C (p.Tyr293Ser)
c.803A>C (p.Tyr268Ser)
15g.40472091A>GCA281524CHST14c.878A>G (p.Tyr293Cys)
c.803A>G (p.Tyr268Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472091A>TCA391767740CHST14c.878A>T (p.Tyr293Phe)
c.803A>T (p.Tyr268Phe)
15g.40472092T>ACA391767742CHST14c.879T>A (p.Tyr293Ter)
c.804T>A (p.Tyr268Ter)
15g.40472092T>CCA489975175CHST14c.879T>C (p.Tyr293=)
c.804T>C (p.Tyr268=)
15g.40472092T>GCA391767745CHST14c.879T>G (p.Tyr293Ter)
c.804T>G (p.Tyr268Ter)
15g.40472093G>ACA391767751CHST14c.880G>A (p.Asp294Asn)
c.805G>A (p.Asp269Asn)
 gnomAD v4
15g.40472093G>CCA391767753CHST14c.880G>C (p.Asp294His)
c.805G>C (p.Asp269His)
15g.40472093G>TCA391767748CHST14c.880G>T (p.Asp294Tyr)
c.805G>T (p.Asp269Tyr)
15g.40472094A>CCA391767757CHST14c.881A>C (p.Asp294Ala)
c.806A>C (p.Asp269Ala)
15g.40472094A>GCA391767761CHST14c.881A>G (p.Asp294Gly)
c.806A>G (p.Asp269Gly)
15g.40472094A>TCA391767763CHST14c.881A>T (p.Asp294Val)
c.806A>T (p.Asp269Val)
15g.40472095C>ACA391767764CHST14c.882C>A (p.Asp294Glu)
c.807C>A (p.Asp269Glu)
15g.40472095C>GCA391767765CHST14c.882C>G (p.Asp294Glu)
c.807C>G (p.Asp269Glu)
15g.40472095C>TCA489975183CHST14c.882C>T (p.Asp294=)
c.807C>T (p.Asp269=)
15g.40472096T>ACA391767766CHST14c.883T>A (p.Phe295Ile)
c.808T>A (p.Phe270Ile)
15g.40472096T>CCA391767767CHST14c.883T>C (p.Phe295Leu)
c.808T>C (p.Phe270Leu)
15g.40472096T>GCA391767769CHST14c.883T>G (p.Phe295Val)
c.808T>G (p.Phe270Val)
15g.40472097_40472098delCA2695219940CHST14c.884_885del (p.Phe295CysfsTer5)
c.809_810del (p.Phe270CysfsTer5)
15g.40472097T>ACA391767770CHST14c.884T>A (p.Phe295Tyr)
c.809T>A (p.Phe270Tyr)
 dbSNP
15g.40472097T>CCA391767772CHST14c.884T>C (p.Phe295Ser)
c.809T>C (p.Phe270Ser)
15g.40472097T>GCA391767776CHST14c.884T>G (p.Phe295Cys)
c.809T>G (p.Phe270Cys)
15g.40472097T=CA2171795394CHST14c.884T= (p.Phe295=)
c.809T= (p.Phe270=)
15g.40472098T>ACA391767781CHST14c.885T>A (p.Phe295Leu)
c.810T>A (p.Phe270Leu)
15g.40472098T>CCA489975190CHST14c.885T>C (p.Phe295=)
c.810T>C (p.Phe270=)
15g.40472098T>GCA391767782CHST14c.885T>G (p.Phe295Leu)
c.810T>G (p.Phe270Leu)
15g.40472099G>ACA391767788CHST14c.886G>A (p.Val296Met)
c.811G>A (p.Val271Met)
15g.40472099G>CCA391767786CHST14c.886G>C (p.Val296Leu)
c.811G>C (p.Val271Leu)
 gnomAD v4
15g.40472099G>TCA391767784CHST14c.886G>T (p.Val296Leu)
c.811G>T (p.Val271Leu)
15g.40472100T>ACA391767792CHST14c.887T>A (p.Val296Glu)
c.812T>A (p.Val271Glu)
15g.40472100T>CCA391767805CHST14c.887T>C (p.Val296Ala)
c.812T>C (p.Val271Ala)
 dbSNP gnomAD v2 gnomAD v4
15g.40472100T>GCA391767808CHST14c.887T>G (p.Val296Gly)
c.812T>G (p.Val271Gly)
15g.40472100T=CA2171795395CHST14c.887T= (p.Val296=)
c.812T= (p.Val271=)
15g.40472101G>ACA489975191CHST14c.888G>A (p.Val296=)
c.813G>A (p.Val271=)
15g.40472101G>CCA489975192CHST14c.888G>C (p.Val296=)
c.813G>C (p.Val271=)
 gnomAD v4
15g.40472101G>TCA489975194CHST14c.888G>T (p.Val296=)
c.813G>T (p.Val271=)
15g.40472102G>ACA391767812CHST14c.889G>A (p.Gly297Ser)
c.814G>A (p.Gly272Ser)
 COSMIC
15g.40472102G>CCA391767814CHST14c.889G>C (p.Gly297Arg)
c.814G>C (p.Gly272Arg)
15g.40472102G>TCA391767818CHST14c.889G>T (p.Gly297Cys)
c.814G>T (p.Gly272Cys)
15g.40472104_40472138dupCA2627824990CHST14c.891_925dup (p.Val309AlafsTer?)
c.816_850dup (p.Val284AlafsTer?)
 gnomAD v4
15g.40472103G>ACA391767824CHST14c.890G>A (p.Gly297Asp)
c.815G>A (p.Gly272Asp)
 gnomAD v4
15g.40472103G>CCA391767825CHST14c.890G>C (p.Gly297Ala)
c.815G>C (p.Gly272Ala)
15g.40472103G>TCA391767828CHST14c.890G>T (p.Gly297Val)
c.815G>T (p.Gly272Val)
15g.40472104C>ACA489975200CHST14c.891C>A (p.Gly297=)
c.816C>A (p.Gly272=)
15g.40472104C=CA2171795396CHST14c.891C= (p.Gly297=)
c.816C= (p.Gly272=)
15g.40472104C>GCA7481663CHST14c.891C>G (p.Gly297=)
c.816C>G (p.Gly272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472104C>TCA489975204CHST14c.891C>T (p.Gly297=)
c.816C>T (p.Gly272=)
15g.40472106_40472108delCA2627824991CHST14c.893_895del (p.Ser298del)
c.818_820del (p.Ser273del)
 gnomAD v4
15g.40472105T>ACA391767835CHST14c.892T>A (p.Ser298Thr)
c.817T>A (p.Ser273Thr)
 gnomAD v4
15g.40472105T>CCA391767845CHST14c.892T>C (p.Ser298Pro)
c.817T>C (p.Ser273Pro)
15g.40472105T>GCA391767849CHST14c.892T>G (p.Ser298Ala)
c.817T>G (p.Ser273Ala)
15g.40472106C>ACA391767861CHST14c.893C>A (p.Ser298Tyr)
c.818C>A (p.Ser273Tyr)
15g.40472106C>GCA391767857CHST14c.893C>G (p.Ser298Cys)
c.818C>G (p.Ser273Cys)
15g.40472106C>TCA391767856CHST14c.893C>T (p.Ser298Phe)
c.818C>T (p.Ser273Phe)
 gnomAD v4
15g.40472107C>ACA489975210CHST14c.894C>A (p.Ser298=)
c.819C>A (p.Ser273=)
 gnomAD v4
15g.40472107C=CA2171795397CHST14c.894C= (p.Ser298=)
c.819C= (p.Ser273=)
15g.40472107C>GCA489975211CHST14c.894C>G (p.Ser298=)
c.819C>G (p.Ser273=)
15g.40472107C>TCA489975213CHST14c.894C>T (p.Ser298=)
c.819C>T (p.Ser273=)
 dbSNP gnomAD v2
15g.40472108T>ACA391767868CHST14c.895T>A (p.Tyr299Asn)
c.820T>A (p.Tyr274Asn)
15g.40472108T>CCA391767873CHST14c.895T>C (p.Tyr299His)
c.820T>C (p.Tyr274His)
15g.40472108T>GCA391767870CHST14c.895T>G (p.Tyr299Asp)
c.820T>G (p.Tyr274Asp)
15g.40472109A>CCA391767876CHST14c.896A>C (p.Tyr299Ser)
c.821A>C (p.Tyr274Ser)
15g.40472109A>GCA391767883CHST14c.896A>G (p.Tyr299Cys)
c.821A>G (p.Tyr274Cys)
15g.40472109A>TCA391767880CHST14c.896A>T (p.Tyr299Phe)
c.821A>T (p.Tyr274Phe)
15g.40472110T>ACA391767892CHST14c.897T>A (p.Tyr299Ter)
c.822T>A (p.Tyr274Ter)
15g.40472110T>CCA7481664CHST14c.897T>C (p.Tyr299=)
c.822T>C (p.Tyr274=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472110T>GCA391767898CHST14c.897T>G (p.Tyr299Ter)
c.822T>G (p.Tyr274Ter)
15g.40472110T=CA2171795398CHST14c.897T= (p.Tyr299=)
c.822T= (p.Tyr274=)
15g.40472111G>ACA391767900CHST14c.898G>A (p.Glu300Lys)
c.823G>A (p.Glu275Lys)
15g.40472111G>CCA391767903CHST14c.898G>C (p.Glu300Gln)
c.823G>C (p.Glu275Gln)
15g.40472111G=CA2171795399CHST14c.898G= (p.Glu300=)
c.823G= (p.Glu275=)
15g.40472111G>TCA391767904CHST14c.898G>T (p.Glu300Ter)
c.823G>T (p.Glu275Ter)
 dbSNP
15g.40472112A>CCA391767908CHST14c.899A>C (p.Glu300Ala)
c.824A>C (p.Glu275Ala)
15g.40472112A>GCA391767909CHST14c.899A>G (p.Glu300Gly)
c.824A>G (p.Glu275Gly)
15g.40472112A>TCA391767910CHST14c.899A>T (p.Glu300Val)
c.824A>T (p.Glu275Val)
15g.40472113G>ACA489975224CHST14c.900G>A (p.Glu300=)
c.825G>A (p.Glu275=)
 gnomAD v4
15g.40472113G>CCA7481665CHST14c.900G>C (p.Glu300Asp)
c.825G>C (p.Glu275Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472113G=CA2171795400CHST14c.900G= (p.Glu300=)
c.825G= (p.Glu275=)
15g.40472113G>TCA391767911CHST14c.900G>T (p.Glu300Asp)
c.825G>T (p.Glu275Asp)
15g.40472114A>CCA489975226CHST14c.901A>C (p.Arg301=)
c.826A>C (p.Arg276=)
15g.40472114A>GCA391767912CHST14c.901A>G (p.Arg301Gly)
c.826A>G (p.Arg276Gly)
15g.40472114A>TCA391767916CHST14c.901A>T (p.Arg301Trp)
c.826A>T (p.Arg276Trp)
15g.40472115G>ACA7481666CHST14c.902G>A (p.Arg301Lys)
c.827G>A (p.Arg276Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472115G>CCA391767920CHST14c.902G>C (p.Arg301Thr)
c.827G>C (p.Arg276Thr)
 gnomAD v4
15g.40472115G=CA2171795401CHST14c.902G= (p.Arg301=)
c.827G= (p.Arg276=)
15g.40472115G>TCA391767919CHST14c.902G>T (p.Arg301Met)
c.827G>T (p.Arg276Met)
15g.40472115_40472139delinsGGCTGGAGGCTGATGCAAATCAGGTCA2171795402CHST14c.902_926delinsGGCTGGAGGCTGATGCAAATCAGGT (p.Arg301=)
c.827_851delinsGGCTGGAGGCTGATGCAAATCAGGT (p.Arg276=)
15g.40472116G>ACA489975228CHST14c.903G>A (p.Arg301=)
c.828G>A (p.Arg276=)
 gnomAD v4
15g.40472116G>CCA391767921CHST14c.903G>C (p.Arg301Ser)
c.828G>C (p.Arg276Ser)
15g.40472116G>TCA391767922CHST14c.903G>T (p.Arg301Ser)
c.828G>T (p.Arg276Ser)
15g.40472123_40472146delCA617557500CHST14c.910_933del (p.Ala304_Glu311del)
c.835_858del (p.Ala279_Glu286del)
 dbSNP gnomAD v2 gnomAD v4
15g.40472117C>ACA391767924CHST14c.904C>A (p.Leu302Met)
c.829C>A (p.Leu277Met)
15g.40472117C>GCA391767927CHST14c.904C>G (p.Leu302Val)
c.829C>G (p.Leu277Val)
15g.40472117C>TCA489975232CHST14c.904C>T (p.Leu302=)
c.829C>T (p.Leu277=)
15g.40472118T>ACA391767928CHST14c.905T>A (p.Leu302Gln)
c.830T>A (p.Leu277Gln)
15g.40472118T>CCA391767931CHST14c.905T>C (p.Leu302Pro)
c.830T>C (p.Leu277Pro)
15g.40472118T>GCA391767934CHST14c.905T>G (p.Leu302Arg)
c.830T>G (p.Leu277Arg)
15g.40472119G>ACA489975237CHST14c.906G>A (p.Leu302=)
c.831G>A (p.Leu277=)
15g.40472119G>CCA489975238CHST14c.906G>C (p.Leu302=)
c.831G>C (p.Leu277=)
15g.40472119G>TCA489975239CHST14c.906G>T (p.Leu302=)
c.831G>T (p.Leu277=)
15g.40472120G>ACA391767936CHST14c.907G>A (p.Glu303Lys)
c.832G>A (p.Glu278Lys)
 gnomAD v4
15g.40472120G>CCA391767939CHST14c.907G>C (p.Glu303Gln)
c.832G>C (p.Glu278Gln)
15g.40472120G>TCA391767941CHST14c.907G>T (p.Glu303Ter)
c.832G>T (p.Glu278Ter)
15g.40472121A>CCA391767953CHST14c.908A>C (p.Glu303Ala)
c.833A>C (p.Glu278Ala)
15g.40472121A>GCA391767948CHST14c.908A>G (p.Glu303Gly)
c.833A>G (p.Glu278Gly)
15g.40472121A>TCA391767945CHST14c.908A>T (p.Glu303Val)
c.833A>T (p.Glu278Val)
15g.40472122G>ACA489975241CHST14c.909G>A (p.Glu303=)
c.834G>A (p.Glu278=)
15g.40472122G>CCA391767956CHST14c.909G>C (p.Glu303Asp)
c.834G>C (p.Glu278Asp)
15g.40472122G>TCA391767958CHST14c.909G>T (p.Glu303Asp)
c.834G>T (p.Glu278Asp)
15g.40472123G>ACA391767960CHST14c.910G>A (p.Ala304Thr)
c.835G>A (p.Ala279Thr)
15g.40472123G>CCA391767962CHST14c.910G>C (p.Ala304Pro)
c.835G>C (p.Ala279Pro)
15g.40472123G>TCA391767964CHST14c.910G>T (p.Ala304Ser)
c.835G>T (p.Ala279Ser)
15g.40472124C>ACA391767968CHST14c.911C>A (p.Ala304Asp)
c.836C>A (p.Ala279Asp)
15g.40472124C>GCA391767972CHST14c.911C>G (p.Ala304Gly)
c.836C>G (p.Ala279Gly)
15g.40472124C>TCA391767973CHST14c.911C>T (p.Ala304Val)
c.836C>T (p.Ala279Val)
15g.40472125T>ACA489975245CHST14c.912T>A (p.Ala304=)
c.837T>A (p.Ala279=)
15g.40472125T>CCA489975247CHST14c.912T>C (p.Ala304=)
c.837T>C (p.Ala279=)
15g.40472125T>GCA489975246CHST14c.912T>G (p.Ala304=)
c.837T>G (p.Ala279=)
15g.40472126G>ACA391767975CHST14c.913G>A (p.Asp305Asn)
c.838G>A (p.Asp280Asn)
15g.40472126G>CCA391767977CHST14c.913G>C (p.Asp305His)
c.838G>C (p.Asp280His)
15g.40472126G>TCA391767979CHST14c.913G>T (p.Asp305Tyr)
c.838G>T (p.Asp280Tyr)
15g.40472127A>CCA391767983CHST14c.914A>C (p.Asp305Ala)
c.839A>C (p.Asp280Ala)
15g.40472127A>GCA391767986CHST14c.914A>G (p.Asp305Gly)
c.839A>G (p.Asp280Gly)
15g.40472127A>TCA391767988CHST14c.914A>T (p.Asp305Val)
c.839A>T (p.Asp280Val)
15g.40472128T>ACA391767991CHST14c.915T>A (p.Asp305Glu)
c.840T>A (p.Asp280Glu)
15g.40472128T>CCA489975253CHST14c.915T>C (p.Asp305=)
c.840T>C (p.Asp280=)
 dbSNP gnomAD v4
15g.40472128T>GCA391767992CHST14c.915T>G (p.Asp305Glu)
c.840T>G (p.Asp280Glu)
15g.40472128T=CA2171795403CHST14c.915T= (p.Asp305=)
c.840T= (p.Asp280=)
15g.40472129G>ACA391767995CHST14c.916G>A (p.Ala306Thr)
c.841G>A (p.Ala281Thr)
 gnomAD v4
15g.40472129G>CCA391768001CHST14c.916G>C (p.Ala306Pro)
c.841G>C (p.Ala281Pro)
15g.40472129G>TCA391768003CHST14c.916G>T (p.Ala306Ser)
c.841G>T (p.Ala281Ser)
15g.40472130C>ACA391768007CHST14c.917C>A (p.Ala306Glu)
c.842C>A (p.Ala281Glu)
15g.40472130C=CA2171795404CHST14c.917C= (p.Ala306=)
c.842C= (p.Ala281=)
15g.40472130C>GCA391768008CHST14c.917C>G (p.Ala306Gly)
c.842C>G (p.Ala281Gly)
15g.40472130C>TCA7481667CHST14c.917C>T (p.Ala306Val)
c.842C>T (p.Ala281Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472131A>CCA489975262CHST14c.918A>C (p.Ala306=)
c.843A>C (p.Ala281=)
15g.40472131A>GCA489975265CHST14c.918A>G (p.Ala306=)
c.843A>G (p.Ala281=)
15g.40472131A>TCA489975264CHST14c.918A>T (p.Ala306=)
c.843A>T (p.Ala281=)
15g.40472132A=CA2171795405CHST14c.919A= (p.Asn307=)
c.844A= (p.Asn282=)
15g.40472132A>CCA391768014CHST14c.919A>C (p.Asn307His)
c.844A>C (p.Asn282His)
 dbSNP gnomAD v2 gnomAD v4
15g.40472132A>GCA7481668CHST14c.919A>G (p.Asn307Asp)
c.844A>G (p.Asn282Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472132A>TCA391768017CHST14c.919A>T (p.Asn307Tyr)
c.844A>T (p.Asn282Tyr)
15g.40472133A>CCA391768019CHST14c.920A>C (p.Asn307Thr)
c.845A>C (p.Asn282Thr)
15g.40472133A>GCA391768020CHST14c.920A>G (p.Asn307Ser)
c.845A>G (p.Asn282Ser)
15g.40472133A>TCA391768022CHST14c.920A>T (p.Asn307Ile)
c.845A>T (p.Asn282Ile)
15g.40472134T>ACA391768025CHST14c.921T>A (p.Asn307Lys)
c.846T>A (p.Asn282Lys)
15g.40472134T>CCA489975270CHST14c.921T>C (p.Asn307=)
c.846T>C (p.Asn282=)
15g.40472134T>GCA391768028CHST14c.921T>G (p.Asn307Lys)
c.846T>G (p.Asn282Lys)
15g.40472135C>ACA7481669CHST14c.922C>A (p.Gln308Lys)
c.847C>A (p.Gln283Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472135C=CA2171795406CHST14c.922C= (p.Gln308=)
c.847C= (p.Gln283=)
15g.40472135C>GCA391768033CHST14c.922C>G (p.Gln308Glu)
c.847C>G (p.Gln283Glu)
15g.40472135C>TCA391768030CHST14c.922C>T (p.Gln308Ter)
c.847C>T (p.Gln283Ter)
 ClinVar gnomAD v4
15g.40472136A>CCA391768035CHST14c.923A>C (p.Gln308Pro)
c.848A>C (p.Gln283Pro)
15g.40472136A>GCA391768037CHST14c.923A>G (p.Gln308Arg)
c.848A>G (p.Gln283Arg)
15g.40472136A>TCA391768038CHST14c.923A>T (p.Gln308Leu)
c.848A>T (p.Gln283Leu)
15g.40472137G>ACA489975277CHST14c.924G>A (p.Gln308=)
c.849G>A (p.Gln283=)
15g.40472137G>CCA391768041CHST14c.924G>C (p.Gln308His)
c.849G>C (p.Gln283His)
15g.40472137G>TCA391768042CHST14c.924G>T (p.Gln308His)
c.849G>T (p.Gln283His)
15g.40472138G>ACA391768044CHST14c.925G>A (p.Val309Met)
c.850G>A (p.Val284Met)
 gnomAD v4
15g.40472138G>CCA391768046CHST14c.925G>C (p.Val309Leu)
c.850G>C (p.Val284Leu)
15g.40472138G>TCA391768048CHST14c.925G>T (p.Val309Leu)
c.850G>T (p.Val284Leu)
15g.40472139T>ACA391768051CHST14c.926T>A (p.Val309Glu)
c.851T>A (p.Val284Glu)
15g.40472139T>CCA391768054CHST14c.926T>C (p.Val309Ala)
c.851T>C (p.Val284Ala)
15g.40472139T>GCA391768057CHST14c.926T>G (p.Val309Gly)
c.851T>G (p.Val284Gly)
 dbSNP
15g.40472139T=CA2171795407CHST14c.926T= (p.Val309=)
c.851T= (p.Val284=)
15g.40472140G>ACA489975280CHST14c.927G>A (p.Val309=)
c.852G>A (p.Val284=)
15g.40472140G>CCA489975281CHST14c.927G>C (p.Val309=)
c.852G>C (p.Val284=)
15g.40472140G>TCA489975282CHST14c.927G>T (p.Val309=)
c.852G>T (p.Val284=)
15g.40472141C>ACA391768061CHST14c.928C>A (p.Leu310Met)
c.853C>A (p.Leu285Met)
 dbSNP gnomAD v3 gnomAD v4
15g.40472141C=CA2171795408CHST14c.928C= (p.Leu310=)
c.853C= (p.Leu285=)
15g.40472141C>GCA391768059CHST14c.928C>G (p.Leu310Val)
c.853C>G (p.Leu285Val)
15g.40472141C>TCA7481670CHST14c.928C>T (p.Leu310=)
c.853C>T (p.Leu285=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472142T>ACA391768062CHST14c.929T>A (p.Leu310Gln)
c.854T>A (p.Leu285Gln)
15g.40472142T>CCA391768063CHST14c.929T>C (p.Leu310Pro)
c.854T>C (p.Leu285Pro)
15g.40472142T>GCA391768065CHST14c.929T>G (p.Leu310Arg)
c.854T>G (p.Leu285Arg)
15g.40472143G>ACA489975285CHST14c.930G>A (p.Leu310=)
c.855G>A (p.Leu285=)
 ClinVar gnomAD v4
15g.40472143G>CCA489975286CHST14c.930G>C (p.Leu310=)
c.855G>C (p.Leu285=)
15g.40472143G>TCA489975287CHST14c.930G>T (p.Leu310=)
c.855G>T (p.Leu285=)
15g.40472144G>ACA391768067CHST14c.931G>A (p.Glu311Lys)
c.856G>A (p.Glu286Lys)
15g.40472144G>CCA391768069CHST14c.931G>C (p.Glu311Gln)
c.856G>C (p.Glu286Gln)
15g.40472144G>TCA391768072CHST14c.931G>T (p.Glu311Ter)
c.856G>T (p.Glu286Ter)
15g.40472145A>CCA391768075CHST14c.932A>C (p.Glu311Ala)
c.857A>C (p.Glu286Ala)
15g.40472145A>GCA391768077CHST14c.932A>G (p.Glu311Gly)
c.857A>G (p.Glu286Gly)
15g.40472145A>TCA391768079CHST14c.932A>T (p.Glu311Val)
c.857A>T (p.Glu286Val)
15g.40472146G>ACA489975289CHST14c.933G>A (p.Glu311=)
c.858G>A (p.Glu286=)
15g.40472146G>CCA268822916CHST14c.933G>C (p.Glu311Asp)
c.858G>C (p.Glu286Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.40472146G=CA2171795409CHST14c.933G= (p.Glu311=)
c.858G= (p.Glu286=)
15g.40472146G>TCA391768082CHST14c.933G>T (p.Glu311Asp)
c.858G>T (p.Glu286Asp)
15g.40472147T>ACA391768089CHST14c.934T>A (p.Trp312Arg)
c.859T>A (p.Trp287Arg)
15g.40472147T>CCA391768091CHST14c.934T>C (p.Trp312Arg)
c.859T>C (p.Trp287Arg)
15g.40472147T>GCA391768087CHST14c.934T>G (p.Trp312Gly)
c.859T>G (p.Trp287Gly)
 dbSNP
15g.40472147T=CA2171795410CHST14c.934T= (p.Trp312=)
c.859T= (p.Trp287=)
15g.40472148G>ACA391768094CHST14c.935G>A (p.Trp312Ter)
c.860G>A (p.Trp287Ter)
 gnomAD v4
15g.40472148G>CCA391768096CHST14c.935G>C (p.Trp312Ser)
c.860G>C (p.Trp287Ser)
 dbSNP gnomAD v4
15g.40472148G=CA2171795411CHST14c.935G= (p.Trp312=)
c.860G= (p.Trp287=)
15g.40472148G>TCA391768097CHST14c.935G>T (p.Trp312Leu)
c.860G>T (p.Trp287Leu)
 ClinVar gnomAD v4
15g.40472149G>ACA391768100CHST14c.936G>A (p.Trp312Ter)
c.861G>A (p.Trp287Ter)
15g.40472149G>CCA391768103CHST14c.936G>C (p.Trp312Cys)
c.861G>C (p.Trp287Cys)
15g.40472149G>TCA391768105CHST14c.936G>T (p.Trp312Cys)
c.861G>T (p.Trp287Cys)
15g.40472150G>ACA391768112CHST14c.937G>A (p.Val313Ile)
c.862G>A (p.Val288Ile)
15g.40472150G>CCA391768108CHST14c.937G>C (p.Val313Leu)
c.862G>C (p.Val288Leu)
15g.40472150G>TCA391768111CHST14c.937G>T (p.Val313Leu)
c.862G>T (p.Val288Leu)
15g.40472151T>ACA391768117CHST14c.938T>A (p.Val313Glu)
c.863T>A (p.Val288Glu)
15g.40472151T>CCA391768120CHST14c.938T>C (p.Val313Ala)
c.863T>C (p.Val288Ala)
15g.40472151T>GCA391768122CHST14c.938T>G (p.Val313Gly)
c.863T>G (p.Val288Gly)
15g.40472152A=CA2171795412CHST14c.939A= (p.Val313=)
c.864A= (p.Val288=)
15g.40472152A>CCA489975295CHST14c.939A>C (p.Val313=)
c.864A>C (p.Val288=)
15g.40472152A>GCA489975300CHST14c.939A>G (p.Val313=)
c.864A>G (p.Val288=)
 dbSNP
15g.40472152A>TCA489975297CHST14c.939A>T (p.Val313=)
c.864A>T (p.Val288=)
15g.40472153C>ACA489975301CHST14c.940C>A (p.Arg314=)
c.865C>A (p.Arg289=)
15g.40472153C=CA2171795413CHST14c.940C= (p.Arg314=)
c.865C= (p.Arg289=)
15g.40472153C>GCA391768124CHST14c.940C>G (p.Arg314Gly)
c.865C>G (p.Arg289Gly)
15g.40472153C>TCA391768127CHST14c.940C>T (p.Arg314Trp)
c.865C>T (p.Arg289Trp)
 dbSNP gnomAD v2 gnomAD v4
15g.40472154G>ACA7481671CHST14c.941G>A (p.Arg314Gln)
c.866G>A (p.Arg289Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472154G>CCA391768132CHST14c.941G>C (p.Arg314Pro)
c.866G>C (p.Arg289Pro)
 dbSNP
15g.40472154G=CA2171795414CHST14c.941G= (p.Arg314=)
c.866G= (p.Arg289=)
15g.40472154G>TCA391768130CHST14c.941G>T (p.Arg314Leu)
c.866G>T (p.Arg289Leu)

Number of alleles fetched