Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919802_89920805delCA916083514MC1Rc.544_*593del (n.[c.544_*593del;Tyr182LeufsTer?])
c.544_*17del
c.544_1098+68del
ClinVar
16g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGACA2242009630MC1Rc.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=])
c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
16g.89919803_89920802delCA658798660MC1Rc.545_*590del (n.[c.545_*590del;Tyr182CysfsTer8])
c.545_*14del
c.545_1098+65del
ClinVar dbSNP
16g.89920046T>ACA397463278MC1Rc.788T>A (p.Leu263His)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.89920046T>CCA8255746MC1Rc.788T>C (p.Leu263Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920046T>GCA397463279MC1Rc.788T>G (p.Leu263Arg)
16g.89920046T=CA2242009792MC1Rc.788T= (p.Leu263=)
16g.89920047C>ACA497380324MC1Rc.789C>A (p.Leu263=)
COSMIC
16g.89920047C=CA2242009793MC1Rc.789C= (p.Leu263=)
16g.89920047C>GCA497380325MC1Rc.789C>G (p.Leu263=)
16g.89920047C>TCA8255747MC1Rc.789C>T (p.Leu263=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920048A=CA2242009794MC1Rc.790A= (p.Ile264=)
16g.89920048A>CCA397463281MC1Rc.790A>C (p.Ile264Leu)
ClinVar dbSNP gnomAD v4
16g.89920048A>GCA286607657MC1Rc.790A>G (p.Ile264Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89920048A>TCA397463283MC1Rc.790A>T (p.Ile264Phe)
16g.89920049T>ACA397463285MC1Rc.791T>A (p.Ile264Asn)
dbSNP
16g.89920049T>CCA397463287MC1Rc.791T>C (p.Ile264Thr)
16g.89920049T>GCA397463292MC1Rc.791T>G (p.Ile264Ser)
16g.89920049T=CA2242009795MC1Rc.791T= (p.Ile264=)
16g.89920051_89920056delCA2635067344MC1Rc.793_798del (p.Val265_Leu266del)
gnomAD v4
16g.89920050C>ACA497380330MC1Rc.792C>A (p.Ile264=)
gnomAD v4
16g.89920050C=CA2242009796MC1Rc.792C= (p.Ile264=)
16g.89920050C>GCA397463296MC1Rc.792C>G (p.Ile264Met)
16g.89920050C>TCA8255748MC1Rc.792C>T (p.Ile264=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920051G>ACA233348MC1Rc.793G>A (p.Val265Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89920051G>CCA397463299MC1Rc.793G>C (p.Val265Leu)
16g.89920051G=CA2242009797MC1Rc.793G= (p.Val265=)
16g.89920051G>TCA397463300MC1Rc.793G>T (p.Val265Phe)
16g.89920052T>ACA397463301MC1Rc.794T>A (p.Val265Asp)
16g.89920052T>CCA397463302MC1Rc.794T>C (p.Val265Ala)
16g.89920052T>GCA397463303MC1Rc.794T>G (p.Val265Gly)
16g.89920053C>ACA497380335MC1Rc.795C>A (p.Val265=)
16g.89920053C=CA2242009798MC1Rc.795C= (p.Val265=)
16g.89920053C>GCA8255750MC1Rc.795C>G (p.Val265=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920053C>TCA8255749MC1Rc.795C>T (p.Val265=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920055_89920061delCA2635067356MC1Rc.797_803del (p.Leu266ProfsTer?)
gnomAD v4
16g.89920054C>ACA397463307MC1Rc.796C>A (p.Leu266Ile)
16g.89920054C=CA2242009799MC1Rc.796C= (p.Leu266=)
16g.89920054C>GCA397463308MC1Rc.796C>G (p.Leu266Val)
16g.89920054C>TCA286607663MC1Rc.796C>T (p.Leu266Phe)
dbSNP gnomAD v4
16g.89920055T>ACA397463309MC1Rc.797T>A (p.Leu266His)
16g.89920055T>CCA397463310MC1Rc.797T>C (p.Leu266Pro)
16g.89920055T>GCA397463311MC1Rc.797T>G (p.Leu266Arg)
16g.89920056C>ACA497380342MC1Rc.798C>A (p.Leu266=)
16g.89920056C=CA2242009800MC1Rc.798C= (p.Leu266=)
16g.89920056C>GCA497380340MC1Rc.798C>G (p.Leu266=)
gnomAD v4
16g.89920056C>TCA497380339MC1Rc.798C>T (p.Leu266=)
dbSNP
16g.89920057T>ACA397463313MC1Rc.799T>A (p.Cys267Ser)
16g.89920057T>CCA397463315MC1Rc.799T>C (p.Cys267Arg)
gnomAD v4
16g.89920057T>GCA397463317MC1Rc.799T>G (p.Cys267Gly)
16g.89920058G>ACA397463318MC1Rc.800G>A (p.Cys267Tyr)
ClinVar
16g.89920058G>CCA397463320MC1Rc.800G>C (p.Cys267Ser)
16g.89920058G=CA2242009801MC1Rc.800G= (p.Cys267=)
16g.89920058G>TCA397463321MC1Rc.800G>T (p.Cys267Phe)
ClinVar dbSNP
16g.89920059C>ACA397463323MC1Rc.801C>A (p.Cys267Ter)
16g.89920059C=CA2242009802MC1Rc.801C= (p.Cys267=)
16g.89920059C>GCA397463325MC1Rc.801C>G (p.Cys267Trp)
16g.89920059C>TCA497380349MC1Rc.801C>T (p.Cys267=)
dbSNP gnomAD v3 gnomAD v4
16g.89920060C>ACA397463327MC1Rc.802C>A (p.Pro268Thr)
16g.89920060C>GCA397463329MC1Rc.802C>G (p.Pro268Ala)
dbSNP gnomAD v4
16g.89920060C>TCA397463326MC1Rc.802C>T (p.Pro268Ser)
16g.89920061C>ACA397463330MC1Rc.803C>A (p.Pro268His)
16g.89920061C=CA2242009803MC1Rc.803C= (p.Pro268=)
16g.89920061C>GCA8255751MC1Rc.803C>G (p.Pro268Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920061C>TCA8255752MC1Rc.803C>T (p.Pro268Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920062C>ACA497380357MC1Rc.804C>A (p.Pro268=)
16g.89920062C=CA2242009804MC1Rc.804C= (p.Pro268=)
16g.89920062C>GCA497380359MC1Rc.804C>G (p.Pro268=)
gnomAD v4
16g.89920062C>TCA8255753MC1Rc.804C>T (p.Pro268=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920063G>ACA8255754MC1Rc.805G>A (p.Glu269Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920063G>CCA397463333MC1Rc.805G>C (p.Glu269Gln)
16g.89920063G=CA2242009805MC1Rc.805G= (p.Glu269=)
16g.89920063G>TCA397463334MC1Rc.805G>T (p.Glu269Ter)
16g.89920064A=CA2242009806MC1Rc.806A= (p.Glu269=)
16g.89920064A>CCA397463336MC1Rc.806A>C (p.Glu269Ala)
16g.89920064A>GCA8255755MC1Rc.806A>G (p.Glu269Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920064A>TCA397463339MC1Rc.806A>T (p.Glu269Val)
16g.89920065G>ACA497380370MC1Rc.807G>A (p.Glu269=)
gnomAD v4
16g.89920065G>CCA397463340MC1Rc.807G>C (p.Glu269Asp)
16g.89920065G>TCA397463341MC1Rc.807G>T (p.Glu269Asp)
16g.89920066C>ACA397463342MC1Rc.808C>A (p.His270Asn)
gnomAD v4
16g.89920066C>GCA397463343MC1Rc.808C>G (p.His270Asp)
COSMIC
16g.89920066C>TCA397463345MC1Rc.808C>T (p.His270Tyr)
16g.89920067A>CCA397463347MC1Rc.809A>C (p.His270Pro)
16g.89920067A>GCA397463349MC1Rc.809A>G (p.His270Arg)
16g.89920067A>TCA397463350MC1Rc.809A>T (p.His270Leu)
16g.89920067_89920068delinsACCA2242009807MC1Rc.809_810delinsAC (p.His270=)
16g.89920068C>ACA397463351MC1Rc.810C>A (p.His270Gln)
16g.89920068C>GCA397463352MC1Rc.810C>G (p.His270Gln)
16g.89920068C>TCA497380385MC1Rc.810C>T (p.His270=)
16g.89920071delCA2242009808MC1Rc.813del (p.Thr272ArgfsTer?)
ClinVar dbSNP
16g.89920069C>ACA397463353MC1Rc.811C>A (p.Pro271Thr)
16g.89920069C=CA2242009809MC1Rc.811C= (p.Pro271=)
16g.89920069C>GCA397463354MC1Rc.811C>G (p.Pro271Ala)
ClinVar
16g.89920069C>TCA397463355MC1Rc.811C>T (p.Pro271Ser)
dbSNP gnomAD v3 gnomAD v4
16g.89920070C>ACA397463357MC1Rc.812C>A (p.Pro271His)
16g.89920070C>GCA397463359MC1Rc.812C>G (p.Pro271Arg)
16g.89920070C>TCA397463360MC1Rc.812C>T (p.Pro271Leu)
16g.89920070_89920082delinsCCACGTGCGGCTGCA2242009810MC1Rc.812_824delinsCCACGTGCGGCTG (p.Pro271=)
16g.89920071C>ACA8255757MC1Rc.813C>A (p.Pro271=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920071C=CA2242009811MC1Rc.813C= (p.Pro271=)
16g.89920071C>GCA497380398MC1Rc.813C>G (p.Pro271=)
dbSNP
16g.89920071C>TCA286607670MC1Rc.813C>T (p.Pro271=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920073_89920084delCA8255756MC1Rc.815_826del (p.Thr272_Cys275del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920072A=CA2242009812MC1Rc.814A= (p.Thr272=)
16g.89920072A>CCA397463361MC1Rc.814A>C (p.Thr272Pro)
16g.89920072A>GCA8255759MC1Rc.814A>G (p.Thr272Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920072A>TCA397463362MC1Rc.814A>T (p.Thr272Ser)
16g.89920073C>ACA8255761MC1Rc.815C>A (p.Thr272Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920073C=CA2242009813MC1Rc.815C= (p.Thr272=)
16g.89920073C>GCA397463364MC1Rc.815C>G (p.Thr272Arg)
16g.89920073C>TCA8255760MC1Rc.815C>T (p.Thr272Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920073_89920075dupCA8255758MC1Rc.815_817dup (p.Thr272_Cys273insSer)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920074G>ACA8255763MC1Rc.816G>A (p.Thr272=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920074G>CCA8255762MC1Rc.816G>C (p.Thr272=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920074G=CA2242009814MC1Rc.816G= (p.Thr272=)
16g.89920074G>TCA497380419MC1Rc.816G>T (p.Thr272=)
dbSNP gnomAD v4
16g.89920075T>ACA397463369MC1Rc.817T>A (p.Cys273Ser)
16g.89920075T>CCA397463371MC1Rc.817T>C (p.Cys273Arg)
gnomAD v4
16g.89920075T>GCA397463372MC1Rc.817T>G (p.Cys273Gly)
16g.89920076G>ACA8255764MC1Rc.818G>A (p.Cys273Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920076G>CCA397463374MC1Rc.818G>C (p.Cys273Ser)
16g.89920076G=CA2242009815MC1Rc.818G= (p.Cys273=)
16g.89920076G>TCA286607677MC1Rc.818G>T (p.Cys273Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920077C>ACA397463375MC1Rc.819C>A (p.Cys273Ter)
gnomAD v4
16g.89920077C=CA2242009816MC1Rc.819C= (p.Cys273=)
16g.89920077C>GCA397463376MC1Rc.819C>G (p.Cys273Trp)
16g.89920077C>TCA8255765MC1Rc.819C>T (p.Cys273=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920078G>ACA8255766MC1Rc.820G>A (p.Gly274Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920078G>CCA397463378MC1Rc.820G>C (p.Gly274Arg)
16g.89920078G=CA2242009817MC1Rc.820G= (p.Gly274=)
16g.89920078G>TCA397463379MC1Rc.820G>T (p.Gly274Cys)
16g.89920079G>ACA397463380MC1Rc.821G>A (p.Gly274Asp)
16g.89920079G>CCA397463383MC1Rc.821G>C (p.Gly274Ala)
dbSNP
16g.89920079G=CA2242009818MC1Rc.821G= (p.Gly274=)
16g.89920079G>TCA397463381MC1Rc.821G>T (p.Gly274Val)
16g.89920080delCA2635067412MC1Rc.822del (p.Cys275AlafsTer?)
gnomAD v4
16g.89920080C>ACA497380434MC1Rc.822C>A (p.Gly274=)
16g.89920080C>GCA497380436MC1Rc.822C>G (p.Gly274=)
16g.89920080C>TCA497380438MC1Rc.822C>T (p.Gly274=)
16g.89920081T>ACA397463385MC1Rc.823T>A (p.Cys275Ser)
16g.89920081T>CCA397463386MC1Rc.823T>C (p.Cys275Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920081T>GCA397463387MC1Rc.823T>G (p.Cys275Gly)
16g.89920081T=CA2242009819MC1Rc.823T= (p.Cys275=)
16g.89920082G>ACA397463389MC1Rc.824G>A (p.Cys275Tyr)
16g.89920082G>CCA397463390MC1Rc.824G>C (p.Cys275Ser)
16g.89920082G>TCA397463391MC1Rc.824G>T (p.Cys275Phe)
16g.89920083C>ACA397463392MC1Rc.825C>A (p.Cys275Ter)
16g.89920083C>GCA397463393MC1Rc.825C>G (p.Cys275Trp)
16g.89920083C>TCA497380450MC1Rc.825C>T (p.Cys275=)
gnomAD v4
16g.89920084A>CCA397463394MC1Rc.826A>C (p.Ile276Leu)
16g.89920084A>GCA397463396MC1Rc.826A>G (p.Ile276Val)
16g.89920084A>TCA397463397MC1Rc.826A>T (p.Ile276Phe)
16g.89920084_89920087delinsATCTCA2242009820MC1Rc.826_829delinsATCT (p.Ile276=)
16g.89920085T>ACA397463402MC1Rc.827T>A (p.Ile276Asn)
16g.89920085T>CCA397463400MC1Rc.827T>C (p.Ile276Thr)
gnomAD v4
16g.89920085T>GCA8255767MC1Rc.827T>G (p.Ile276Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920085T=CA2242009822MC1Rc.827T= (p.Ile276=)
16g.89920087_89920089delCA2242009821MC1Rc.829_831del (p.Phe277del)
dbSNP
16g.89920086C>ACA497380462MC1Rc.828C>A (p.Ile276=)
16g.89920086C=CA2242009823MC1Rc.828C= (p.Ile276=)
16g.89920086C>GCA397463404MC1Rc.828C>G (p.Ile276Met)
dbSNP
16g.89920086C>TCA497380463MC1Rc.828C>T (p.Ile276=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920087T>ACA397463409MC1Rc.829T>A (p.Phe277Ile)
16g.89920087T>CCA397463406MC1Rc.829T>C (p.Phe277Leu)
16g.89920087T>GCA397463408MC1Rc.829T>G (p.Phe277Val)
gnomAD v4
16g.89920088T>ACA397463411MC1Rc.830T>A (p.Phe277Tyr)
16g.89920088T>CCA397463412MC1Rc.830T>C (p.Phe277Ser)
16g.89920088T>GCA397463413MC1Rc.830T>G (p.Phe277Cys)
16g.89920089C>ACA397463417MC1Rc.831C>A (p.Phe277Leu)
16g.89920089C=CA2242009825MC1Rc.831C= (p.Phe277=)
16g.89920089C>GCA8255768MC1Rc.831C>G (p.Phe277Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920089C>TCA497380468MC1Rc.831C>T (p.Phe277=)
16g.89920089_89920090delinsCACA2242009824MC1Rc.831_832delinsCA (p.Phe277=)
16g.89920090A=CA2242009826MC1Rc.832A= (p.Lys278=)
16g.89920090A>CCA397463419MC1Rc.832A>C (p.Lys278Gln)
16g.89920090A>GCA8255769MC1Rc.832A>G (p.Lys278Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920090A>TCA397463420MC1Rc.832A>T (p.Lys278Ter)
16g.89920091delCA624455324MC1Rc.833del (p.Lys278ArgfsTer?)
dbSNP gnomAD v2 gnomAD v4
16g.89920091A>CCA397463421MC1Rc.833A>C (p.Lys278Thr)
16g.89920091A>GCA397463422MC1Rc.833A>G (p.Lys278Arg)
ClinVar
16g.89920091A>TCA397463423MC1Rc.833A>T (p.Lys278Met)
16g.89920092G>ACA497380473MC1Rc.834G>A (p.Lys278=)
16g.89920092G>CCA397463424MC1Rc.834G>C (p.Lys278Asn)
dbSNP gnomAD v2 gnomAD v4
16g.89920092G=CA2242009827MC1Rc.834G= (p.Lys278=)
16g.89920092G>TCA397463425MC1Rc.834G>T (p.Lys278Asn)
16g.89920093A=CA2242009828MC1Rc.835A= (p.Asn279=)
16g.89920093A>CCA397463427MC1Rc.835A>C (p.Asn279His)
16g.89920093A>GCA8255770MC1Rc.835A>G (p.Asn279Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920093A>TCA397463428MC1Rc.835A>T (p.Asn279Tyr)
16g.89920094A=CA2242009829MC1Rc.836A= (p.Asn279=)
16g.89920094A>CCA397463430MC1Rc.836A>C (p.Asn279Thr)
16g.89920094A>GCA8255771MC1Rc.836A>G (p.Asn279Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920094A>TCA397463432MC1Rc.836A>T (p.Asn279Ile)
gnomAD v4
16g.89920095C>ACA8255772MC1Rc.837C>A (p.Asn279Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920095C=CA2242009830MC1Rc.837C= (p.Asn279=)
16g.89920095C>GCA397463434MC1Rc.837C>G (p.Asn279Lys)
16g.89920095C>TCA497380481MC1Rc.837C>T (p.Asn279=)
16g.89920096T>ACA397463436MC1Rc.838T>A (p.Phe280Ile)
16g.89920096T>CCA397463437MC1Rc.838T>C (p.Phe280Leu)
COSMIC
16g.89920096T>GCA397463438MC1Rc.838T>G (p.Phe280Val)
gnomAD v4
16g.89920097T>ACA397463442MC1Rc.839T>A (p.Phe280Tyr)
16g.89920097T>CCA397463443MC1Rc.839T>C (p.Phe280Ser)
16g.89920097T>GCA397463440MC1Rc.839T>G (p.Phe280Cys)
16g.89920097_89920098delinsTCCA2242009831MC1Rc.839_840delinsTC (p.Phe280=)
16g.89920098delCA980471590MC1Rc.840del (p.Phe280LeufsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89920098C>ACA397463444MC1Rc.840C>A (p.Phe280Leu)
ClinVar dbSNP
16g.89920098C=CA2242009832MC1Rc.840C= (p.Phe280=)
16g.89920098C>GCA397463446MC1Rc.840C>G (p.Phe280Leu)
16g.89920098C>TCA497380485MC1Rc.840C>T (p.Phe280=)
gnomAD v4
16g.89920099A=CA2242009833MC1Rc.841A= (p.Asn281=)
16g.89920099A>CCA397463448MC1Rc.841A>C (p.Asn281His)
16g.89920099A>GCA397463450MC1Rc.841A>G (p.Asn281Asp)
16g.89920099A>TCA397463451MC1Rc.841A>T (p.Asn281Tyr)
dbSNP gnomAD v3 gnomAD v4
16g.89920100A=CA2242009834MC1Rc.842A= (p.Asn281=)
16g.89920100A>CCA397463455MC1Rc.842A>C (p.Asn281Thr)
16g.89920100A>GCA8255773MC1Rc.842A>G (p.Asn281Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920100A>TCA397463453MC1Rc.842A>T (p.Asn281Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89920101C>ACA397463457MC1Rc.843C>A (p.Asn281Lys)
16g.89920101C=CA2242009835MC1Rc.843C= (p.Asn281=)
16g.89920101C>GCA397463464MC1Rc.843C>G (p.Asn281Lys)
16g.89920101C>TCA8255774MC1Rc.843C>T (p.Asn281=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920102C>ACA397463469MC1Rc.844C>A (p.Leu282Ile)
16g.89920102C=CA2242009836MC1Rc.844C= (p.Leu282=)
16g.89920102C>GCA397463470MC1Rc.844C>G (p.Leu282Val)
16g.89920102C>TCA397463475MC1Rc.844C>T (p.Leu282Phe)
dbSNP gnomAD v3 gnomAD v4
16g.89920103T>ACA397463478MC1Rc.845T>A (p.Leu282His)
gnomAD v4
16g.89920103T>CCA8255775MC1Rc.845T>C (p.Leu282Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920103T>GCA397463480MC1Rc.845T>G (p.Leu282Arg)
16g.89920103T=CA2242009837MC1Rc.845T= (p.Leu282=)
16g.89920104C>ACA497380492MC1Rc.846C>A (p.Leu282=)
16g.89920104C>GCA497380494MC1Rc.846C>G (p.Leu282=)
16g.89920104C>TCA497380493MC1Rc.846C>T (p.Leu282=)
gnomAD v4
16g.89920105T>ACA397463484MC1Rc.847T>A (p.Phe283Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920105T>CCA286607688MC1Rc.847T>C (p.Phe283Leu)
ClinVar dbSNP gnomAD v4
16g.89920105T>GCA397463488MC1Rc.847T>G (p.Phe283Val)
16g.89920105T=CA2242009838MC1Rc.847T= (p.Phe283=)
16g.89920106T>ACA397463491MC1Rc.848T>A (p.Phe283Tyr)
16g.89920106T>CCA397463492MC1Rc.848T>C (p.Phe283Ser)
16g.89920106T>GCA397463496MC1Rc.848T>G (p.Phe283Cys)
16g.89920107T>ACA397463498MC1Rc.849T>A (p.Phe283Leu)
16g.89920107T>CCA497380501MC1Rc.849T>C (p.Phe283=)
16g.89920107T>GCA397463500MC1Rc.849T>G (p.Phe283Leu)
16g.89920108C>ACA397463501MC1Rc.850C>A (p.Leu284Ile)
16g.89920108C>GCA397463503MC1Rc.850C>G (p.Leu284Val)
16g.89920108C>TCA397463506MC1Rc.850C>T (p.Leu284Phe)
gnomAD v4
16g.89920109T>ACA397463512MC1Rc.851T>A (p.Leu284His)
16g.89920109T>CCA397463511MC1Rc.851T>C (p.Leu284Pro)
gnomAD v4
16g.89920109T>GCA397463509MC1Rc.851T>G (p.Leu284Arg)
16g.89920110C>ACA497380506MC1Rc.852C>A (p.Leu284=)
16g.89920110C=CA2242009839MC1Rc.852C= (p.Leu284=)
16g.89920110C>GCA497380508MC1Rc.852C>G (p.Leu284=)
16g.89920110C>TCA8255776MC1Rc.852C>T (p.Leu284=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920111G>ACA286607691MC1Rc.853G>A (p.Ala285Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89920111G>CCA397463513MC1Rc.853G>C (p.Ala285Pro)
16g.89920111G=CA2242009840MC1Rc.853G= (p.Ala285=)
16g.89920111G>TCA397463514MC1Rc.853G>T (p.Ala285Ser)
16g.89920111_89920139delinsGCCCTCATCATCTGCAATGCCATCATCGACA2242009841MC1Rc.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA (p.Ala285=)
16g.89920112C>ACA397463515MC1Rc.854C>A (p.Ala285Asp)
16g.89920112C=CA2242009842MC1Rc.854C= (p.Ala285=)
16g.89920112C>GCA8255777MC1Rc.854C>G (p.Ala285Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89920112C>TCA397463517MC1Rc.854C>T (p.Ala285Val)
16g.89920114delCA624455326MC1Rc.856del (p.Leu286SerfsTer28)
gnomAD v2 gnomAD v4
16g.89920115_89920142delCA624455327MC1Rc.857_884del (p.Leu286ProfsTer19)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920113C>ACA497380512MC1Rc.855C>A (p.Ala285=)
16g.89920113C=CA2242009843MC1Rc.855C= (p.Ala285=)
16g.89920113C>GCA497380514MC1Rc.855C>G (p.Ala285=)
16g.89920113C>TCA8255778MC1Rc.855C>T (p.Ala285=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920114C>ACA397463519MC1Rc.856C>A (p.Leu286Ile)
16g.89920114C=CA2242009845MC1Rc.856C= (p.Leu286=)
16g.89920114C>GCA397463520MC1Rc.856C>G (p.Leu286Val)
dbSNP gnomAD v4
16g.89920114C>TCA286607695MC1Rc.856C>T (p.Leu286Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89920114_89920117delinsCTCACA2242009844MC1Rc.856_859delinsCTCA (p.Leu286=)
16g.89920115T>ACA397463523MC1Rc.857T>A (p.Leu286His)
16g.89920115T>CCA397463530MC1Rc.857T>C (p.Leu286Pro)
16g.89920115T>GCA397463526MC1Rc.857T>G (p.Leu286Arg)
16g.89920120_89920122delCA8255779MC1Rc.862_864del (p.Ile288del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920116C>ACA497380527MC1Rc.858C>A (p.Leu286=)
16g.89920116C>GCA497380529MC1Rc.858C>G (p.Leu286=)
gnomAD v4
16g.89920116C>TCA497380530MC1Rc.858C>T (p.Leu286=)
gnomAD v4
16g.89920117A=CA2242009846MC1Rc.859A= (p.Ile287=)
16g.89920117A>CCA397463535MC1Rc.859A>C (p.Ile287Leu)
16g.89920117A>GCA8255780MC1Rc.859A>G (p.Ile287Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920117A>TCA397463539MC1Rc.859A>T (p.Ile287Phe)
16g.89920118T>ACA397463541MC1Rc.860T>A (p.Ile287Asn)
16g.89920118T>CCA397463544MC1Rc.860T>C (p.Ile287Thr)
16g.89920118T>GCA8255781MC1Rc.860T>G (p.Ile287Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920118T=CA2242009847MC1Rc.860T= (p.Ile287=)
16g.89920118_89920119delinsTCCA2242009848MC1Rc.860_861delinsTC (p.Ile287=)
16g.89920119delCA725762519MC1Rc.861del (p.Ile288SerfsTer26)
dbSNP gnomAD v3 gnomAD v4
16g.89920119C>ACA8255783MC1Rc.861C>A (p.Ile287=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920119C=CA2242009849MC1Rc.861C= (p.Ile287=)
16g.89920119C>GCA8255782MC1Rc.861C>G (p.Ile287Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920119C>TCA16615058MC1Rc.861C>T (p.Ile287=)
ClinVar dbSNP gnomAD v4 COSMIC
16g.89920120A=CA2242009850MC1Rc.862A= (p.Ile288=)
16g.89920120A>CCA397463548MC1Rc.862A>C (p.Ile288Leu)
16g.89920120A>GCA397463550MC1Rc.862A>G (p.Ile288Val)
ClinVar dbSNP
16g.89920120A>TCA397463560MC1Rc.862A>T (p.Ile288Phe)
dbSNP gnomAD v3 gnomAD v4
16g.89920121T>ACA397463563MC1Rc.863T>A (p.Ile288Asn)
16g.89920121T>CCA397463564MC1Rc.863T>C (p.Ile288Thr)
16g.89920121T>GCA397463572MC1Rc.863T>G (p.Ile288Ser)
16g.89920122C>ACA497380553MC1Rc.864C>A (p.Ile288=)
16g.89920122C=CA2242009851MC1Rc.864C= (p.Ile288=)
16g.89920122C>GCA397463581MC1Rc.864C>G (p.Ile288Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89920122C>TCA286607702MC1Rc.864C>T (p.Ile288=)
dbSNP gnomAD v4
16g.89920123T>ACA397463591MC1Rc.865T>A (p.Cys289Ser)
16g.89920123T>CCA8255784MC1Rc.865T>C (p.Cys289Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920123T>GCA397463587MC1Rc.865T>G (p.Cys289Gly)
16g.89920123T=CA2242009852MC1Rc.865T= (p.Cys289=)
16g.89920124G>ACA397463598MC1Rc.866G>A (p.Cys289Tyr)
16g.89920124G>CCA397463599MC1Rc.866G>C (p.Cys289Ser)
gnomAD v4
16g.89920124G>TCA397463600MC1Rc.866G>T (p.Cys289Phe)
gnomAD v4
16g.89920125C>ACA397463603MC1Rc.867C>A (p.Cys289Ter)
16g.89920125C=CA2242009853MC1Rc.867C= (p.Cys289=)
16g.89920125C>GCA397463604MC1Rc.867C>G (p.Cys289Trp)
16g.89920125C>TCA8255785MC1Rc.867C>T (p.Cys289=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920126A>CCA397463609MC1Rc.868A>C (p.Asn290His)
16g.89920126A>GCA397463606MC1Rc.868A>G (p.Asn290Asp)
16g.89920126A>TCA397463608MC1Rc.868A>T (p.Asn290Tyr)
ClinVar
16g.89920127A=CA2242009854MC1Rc.869A= (p.Asn290=)
16g.89920127A>CCA397463611MC1Rc.869A>C (p.Asn290Thr)
16g.89920127A>GCA8255786MC1Rc.869A>G (p.Asn290Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920127A>TCA397463615MC1Rc.869A>T (p.Asn290Ile)
16g.89920128T>ACA397463617MC1Rc.870T>A (p.Asn290Lys)
16g.89920128T>CCA497380565MC1Rc.870T>C (p.Asn290=)
gnomAD v4
16g.89920128T>GCA397463620MC1Rc.870T>G (p.Asn290Lys)
16g.89920129G>ACA397463625MC1Rc.871G>A (p.Ala291Thr)
dbSNP
16g.89920129G>CCA397463628MC1Rc.871G>C (p.Ala291Pro)
16g.89920129G=CA2242009855MC1Rc.871G= (p.Ala291=)
16g.89920129G>TCA397463627MC1Rc.871G>T (p.Ala291Ser)
16g.89920130C>ACA8255787MC1Rc.872C>A (p.Ala291Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920130C=CA2242009857MC1Rc.872C= (p.Ala291=)
16g.89920130C>GCA397463633MC1Rc.872C>G (p.Ala291Gly)
16g.89920130C>TCA397463635MC1Rc.872C>T (p.Ala291Val)
16g.89920130_89920133delinsCCATCA2242009856MC1Rc.872_875delinsCCAT (p.Ala291=)
16g.89920130_89920134delCA2539166074MC1Rc.872_876del (p.Ala291AspfsTer?)
gnomAD v4
16g.89920131C>ACA497380575MC1Rc.873C>A (p.Ala291=)
16g.89920131C=CA2242009858MC1Rc.873C= (p.Ala291=)
16g.89920131C>GCA497380577MC1Rc.873C>G (p.Ala291=)
16g.89920131C>TCA8255789MC1Rc.873C>T (p.Ala291=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920135_89920137delCA8255788MC1Rc.877_879del (p.Ile293del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920132A=CA2242009859MC1Rc.874A= (p.Ile292=)
16g.89920132A>CCA397463642MC1Rc.874A>C (p.Ile292Leu)
16g.89920132A>GCA286607708MC1Rc.874A>G (p.Ile292Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920132A>TCA397463643MC1Rc.874A>T (p.Ile292Phe)
16g.89920133T>ACA397463644MC1Rc.875T>A (p.Ile292Asn)
16g.89920133T>CCA8255790MC1Rc.875T>C (p.Ile292Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920133T>GCA397463646MC1Rc.875T>G (p.Ile292Ser)
16g.89920133T=CA2242009860MC1Rc.875T= (p.Ile292=)
16g.89920134C>ACA497380587MC1Rc.876C>A (p.Ile292=)
16g.89920134C>GCA397463650MC1Rc.876C>G (p.Ile292Met)
16g.89920134C>TCA497380585MC1Rc.876C>T (p.Ile292=)
gnomAD v4
16g.89920135A>CCA397463658MC1Rc.877A>C (p.Ile293Leu)
16g.89920135A>GCA397463653MC1Rc.877A>G (p.Ile293Val)
16g.89920135A>TCA397463656MC1Rc.877A>T (p.Ile293Phe)
16g.89920136T>ACA397463661MC1Rc.878T>A (p.Ile293Asn)
16g.89920136T>CCA397463662MC1Rc.878T>C (p.Ile293Thr)
gnomAD v4
16g.89920136T>GCA397463663MC1Rc.878T>G (p.Ile293Ser)
16g.89920136_89920137insACGGCA980471612MC1Rc.878_879insACGG (p.Asp294ArgfsTer?)
gnomAD v3 gnomAD v4
16g.89920137C>ACA497380591MC1Rc.879C>A (p.Ile293=)
16g.89920137C=CA2242009861MC1Rc.879C= (p.Ile293=)
16g.89920137C>GCA397463664MC1Rc.879C>G (p.Ile293Met)
16g.89920137C>TCA8255791MC1Rc.879C>T (p.Ile293=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920138G>ACA8255792MC1Rc.880G>A (p.Asp294Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920138G>CCA123861MC1Rc.880G>C (p.Asp294His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920138G=CA2242009862MC1Rc.880G= (p.Asp294=)
16g.89920138G>TCA397463671MC1Rc.880G>T (p.Asp294Tyr)
ClinVar
16g.89920139A=CA2242009863MC1Rc.881A= (p.Asp294=)
16g.89920139A>CCA397463673MC1Rc.881A>C (p.Asp294Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920139A>GCA397463681MC1Rc.881A>G (p.Asp294Gly)
16g.89920139A>TCA397463682MC1Rc.881A>T (p.Asp294Val)
gnomAD v4
16g.89920139_89920140delinsACCA2242009864MC1Rc.881_882delinsAC (p.Asp294=)
16g.89920140C>ACA397463692MC1Rc.882C>A (p.Asp294Glu)
16g.89920140C=CA2242009866MC1Rc.882C= (p.Asp294=)
16g.89920140C>GCA397463687MC1Rc.882C>G (p.Asp294Glu)
16g.89920140C>TCA8255793MC1Rc.882C>T (p.Asp294=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920144delCA2242009865MC1Rc.886del (p.Leu296SerfsTer18)
dbSNP
16g.89920141C>ACA397463694MC1Rc.883C>A (p.Pro295Thr)
16g.89920141C=CA2242009867MC1Rc.883C= (p.Pro295=)
16g.89920141C>GCA397463697MC1Rc.883C>G (p.Pro295Ala)
ClinVar dbSNP
16g.89920141C>TCA286607714MC1Rc.883C>T (p.Pro295Ser)
ClinVar dbSNP gnomAD v4
16g.89920142C>ACA397463700MC1Rc.884C>A (p.Pro295His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920142C=CA2242009868MC1Rc.884C= (p.Pro295=)
16g.89920142C>GCA397463702MC1Rc.884C>G (p.Pro295Arg)
16g.89920142C>TCA397463703MC1Rc.884C>T (p.Pro295Leu)
gnomAD v4
16g.89920143C>ACA497380602MC1Rc.885C>A (p.Pro295=)
16g.89920143C=CA2242009869MC1Rc.885C= (p.Pro295=)
16g.89920143C>GCA8255794MC1Rc.885C>G (p.Pro295=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920143C>TCA497380603MC1Rc.885C>T (p.Pro295=)
16g.89920143_89920145delinsCCTCA2242009870MC1Rc.885_887delinsCCT (p.Pro295=)
16g.89920144C>ACA397463705MC1Rc.886C>A (p.Leu296Ile)
gnomAD v4
16g.89920144C=CA2242009871MC1Rc.886C= (p.Leu296=)
16g.89920144C>GCA397463707MC1Rc.886C>G (p.Leu296Val)
dbSNP gnomAD v2 gnomAD v4
16g.89920144C>TCA397463710MC1Rc.886C>T (p.Leu296Phe)
16g.89920145_89920146delCA624455424MC1Rc.887_888del (p.Leu296HisfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920144_89920145insCCCAACCAAACACACCCAACACA2808106409MC1Rc.886_887insCCCAACCAAACACACCCAACA (p.Leu296delinsProGlnProAsnThrProAsnIle)
16g.89920145T>ACA397463712MC1Rc.887T>A (p.Leu296His)
16g.89920145T>CCA397463716MC1Rc.887T>C (p.Leu296Pro)
16g.89920145T>GCA397463721MC1Rc.887T>G (p.Leu296Arg)
16g.89920146C>ACA497380609MC1Rc.888C>A (p.Leu296=)
16g.89920146C=CA2242009872MC1Rc.888C= (p.Leu296=)
16g.89920146C>GCA497380611MC1Rc.888C>G (p.Leu296=)
16g.89920146C>TCA286607717MC1Rc.888C>T (p.Leu296=)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched