Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154993027T>ACA519372503F8c.510A>T (p.Pro170=)
c.*296A>T (n.*296A>T)
c.405A>T (p.Pro135=)
c.492A>T (p.Pro164=)
Xg.154993027T>CCA519372506F8c.510A>G (p.Pro170=)
c.*296A>G (n.*296A>G)
c.405A>G (p.Pro135=)
c.492A>G (p.Pro164=)
gnomAD v4
Xg.154993027T>GCA519372509F8c.510A>C (p.Pro170=)
c.*296A>C (n.*296A>C)
c.405A>C (p.Pro135=)
c.492A>C (p.Pro164=)
Xg.154993028G>ACA414919558F8c.509C>T (p.Pro170Leu)
c.*295C>T (n.*295C>T)
c.404C>T (p.Pro135Leu)
c.491C>T (p.Pro164Leu)
ClinVar dbSNP
Xg.154993028G>CCA414919559F8c.509C>G (p.Pro170Arg)
c.*295C>G (n.*295C>G)
c.404C>G (p.Pro135Arg)
c.491C>G (p.Pro164Arg)
Xg.154993028G>TCA414919560F8c.509C>A (p.Pro170Gln)
c.*295C>A (n.*295C>A)
c.404C>A (p.Pro135Gln)
c.491C>A (p.Pro164Gln)
Xg.154993029G>ACA10568581F8c.508C>T (p.Pro170Ser)
c.*294C>T (n.*294C>T)
c.403C>T (p.Pro135Ser)
c.490C>T (p.Pro164Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154993029G>CCA414919561F8c.508C>G (p.Pro170Ala)
c.*294C>G (n.*294C>G)
c.403C>G (p.Pro135Ala)
c.490C>G (p.Pro164Ala)
Xg.154993029G=CA2466856526F8c.508C= (p.Pro170=)
c.*294C= (n.*294C=)
c.403C= (p.Pro135=)
c.490C= (p.Pro164=)
Xg.154993029G>TCA414919562F8c.508C>A (p.Pro170Thr)
c.*294C>A (n.*294C>A)
c.403C>A (p.Pro135Thr)
c.490C>A (p.Pro164Thr)
Xg.154993030G>ACA519372545F8c.507C>T (p.Asp169=)
c.*293C>T (n.*293C>T)
c.402C>T (p.Asp134=)
c.489C>T (p.Asp163=)
COSMIC COSMIC
Xg.154993030G>CCA414919563F8c.507C>G (p.Asp169Glu)
c.*293C>G (n.*293C>G)
c.402C>G (p.Asp134Glu)
c.489C>G (p.Asp163Glu)
Xg.154993030G>TCA414919564F8c.507C>A (p.Asp169Glu)
c.*293C>A (n.*293C>A)
c.402C>A (p.Asp134Glu)
c.489C>A (p.Asp163Glu)
Xg.154993031T>ACA414919565F8c.506A>T (p.Asp169Val)
c.*292A>T (n.*292A>T)
c.401A>T (p.Asp134Val)
c.488A>T (p.Asp163Val)
Xg.154993031T>CCA414919566F8c.506A>G (p.Asp169Gly)
c.*292A>G (n.*292A>G)
c.401A>G (p.Asp134Gly)
c.488A>G (p.Asp163Gly)
Xg.154993031T>GCA414919567F8c.506A>C (p.Asp169Ala)
c.*292A>C (n.*292A>C)
c.401A>C (p.Asp134Ala)
c.488A>C (p.Asp163Ala)
Xg.154993032C>ACA414919568F8c.505G>T (p.Asp169Tyr)
c.*291G>T (n.*291G>T)
c.400G>T (p.Asp134Tyr)
c.487G>T (p.Asp163Tyr)
Xg.154993032C=CA2466856527F8c.505G= (p.Asp169=)
c.*291G= (n.*291G=)
c.400G= (p.Asp134=)
c.487G= (p.Asp163=)
Xg.154993032C>GCA414919569F8c.505G>C (p.Asp169His)
c.*291G>C (n.*291G>C)
c.400G>C (p.Asp134His)
c.487G>C (p.Asp163His)
Xg.154993032C>TCA414919570F8c.505G>A (p.Asp169Asn)
c.*291G>A (n.*291G>A)
c.400G>A (p.Asp134Asn)
c.487G>A (p.Asp163Asn)
ClinVar dbSNP
Xg.154993033A=CA2466856528F8c.504T= (p.Ser168=)
c.*290T= (n.*290T=)
c.399T= (p.Ser133=)
c.486T= (p.Ser162=)
Xg.154993033A>CCA519372569F8c.504T>G (p.Ser168=)
c.*290T>G (n.*290T>G)
c.399T>G (p.Ser133=)
c.486T>G (p.Ser162=)
Xg.154993033A>GCA519372570F8c.504T>C (p.Ser168=)
c.*290T>C (n.*290T>C)
c.399T>C (p.Ser133=)
c.486T>C (p.Ser162=)
dbSNP
Xg.154993033A>TCA519372571F8c.504T>A (p.Ser168=)
c.*290T>A (n.*290T>A)
c.399T>A (p.Ser133=)
c.486T>A (p.Ser162=)
Xg.154993034G>ACA414919571F8c.503C>T (p.Ser168Phe)
c.*289C>T (n.*289C>T)
c.398C>T (p.Ser133Phe)
c.485C>T (p.Ser162Phe)
COSMIC COSMIC
Xg.154993034G>CCA414919572F8c.503C>G (p.Ser168Cys)
c.*289C>G (n.*289C>G)
c.398C>G (p.Ser133Cys)
c.485C>G (p.Ser162Cys)
COSMIC COSMIC
Xg.154993034G>TCA414919573F8c.503C>A (p.Ser168Tyr)
c.*289C>A (n.*289C>A)
c.398C>A (p.Ser133Tyr)
c.485C>A (p.Ser162Tyr)
Xg.154993035A=CA2466856529F8c.502T= (p.Ser168=)
c.*288T= (n.*288T=)
c.397T= (p.Ser133=)
c.484T= (p.Ser162=)
Xg.154993035A>CCA414919576F8c.502T>G (p.Ser168Ala)
c.*288T>G (n.*288T>G)
c.397T>G (p.Ser133Ala)
c.484T>G (p.Ser162Ala)
dbSNP
Xg.154993035A>GCA414919575F8c.502T>C (p.Ser168Pro)
c.*288T>C (n.*288T>C)
c.397T>C (p.Ser133Pro)
c.484T>C (p.Ser162Pro)
Xg.154993035A>TCA414919574F8c.502T>A (p.Ser168Thr)
c.*288T>A (n.*288T>A)
c.397T>A (p.Ser133Thr)
c.484T>A (p.Ser162Thr)
Xg.154993036G>ACA519372583F8c.501C>T (p.Ala167=)
c.*287C>T (n.*287C>T)
c.396C>T (p.Ala132=)
c.483C>T (p.Ala161=)
Xg.154993036G>CCA519372584F8c.501C>G (p.Ala167=)
c.*287C>G (n.*287C>G)
c.396C>G (p.Ala132=)
c.483C>G (p.Ala161=)
Xg.154993036G>TCA519372585F8c.501C>A (p.Ala167=)
c.*287C>A (n.*287C>A)
c.396C>A (p.Ala132=)
c.483C>A (p.Ala161=)
Xg.154993037G>ACA414919577F8c.500C>T (p.Ala167Val)
c.*286C>T (n.*286C>T)
c.395C>T (p.Ala132Val)
c.482C>T (p.Ala161Val)
dbSNP gnomAD v2 gnomAD v4
Xg.154993037G>CCA414919578F8c.500C>G (p.Ala167Gly)
c.*286C>G (n.*286C>G)
c.395C>G (p.Ala132Gly)
c.482C>G (p.Ala161Gly)
Xg.154993037G=CA2466856530F8c.500C= (p.Ala167=)
c.*286C= (n.*286C=)
c.395C= (p.Ala132=)
c.482C= (p.Ala161=)
Xg.154993037G>TCA414919579F8c.500C>A (p.Ala167Asp)
c.*286C>A (n.*286C>A)
c.395C>A (p.Ala132Asp)
c.482C>A (p.Ala161Asp)
Xg.154993038C>ACA414919580F8c.499G>T (p.Ala167Ser)
c.*285G>T (n.*285G>T)
c.394G>T (p.Ala132Ser)
c.481G>T (p.Ala161Ser)
Xg.154993038C>GCA414919581F8c.499G>C (p.Ala167Pro)
c.*285G>C (n.*285G>C)
c.394G>C (p.Ala132Pro)
c.481G>C (p.Ala161Pro)
Xg.154993038C>TCA414919582F8c.499G>A (p.Ala167Thr)
c.*285G>A (n.*285G>A)
c.394G>A (p.Ala132Thr)
c.481G>A (p.Ala161Thr)
Xg.154993039C>ACA414919583F8c.498G>T (p.Met166Ile)
c.*284G>T (n.*284G>T)
c.393G>T (p.Met131Ile)
c.480G>T (p.Met160Ile)
Xg.154993039C=CA2466856531F8c.498G= (p.Met166=)
c.*284G= (n.*284G=)
c.393G= (p.Met131=)
c.480G= (p.Met160=)
Xg.154993039C>GCA414919584F8c.498G>C (p.Met166Ile)
c.*284G>C (n.*284G>C)
c.393G>C (p.Met131Ile)
c.480G>C (p.Met160Ile)
Xg.154993039C>TCA414919585F8c.498G>A (p.Met166Ile)
c.*284G>A (n.*284G>A)
c.393G>A (p.Met131Ile)
c.480G>A (p.Met160Ile)
dbSNP
Xg.154993040A>CCA414919586F8c.497T>G (p.Met166Arg)
c.*283T>G (n.*283T>G)
c.392T>G (p.Met131Arg)
c.479T>G (p.Met160Arg)
Xg.154993040A>GCA414919587F8c.497T>C (p.Met166Thr)
c.*283T>C (n.*283T>C)
c.392T>C (p.Met131Thr)
c.479T>C (p.Met160Thr)
Xg.154993040A>TCA414919588F8c.497T>A (p.Met166Lys)
c.*283T>A (n.*283T>A)
c.392T>A (p.Met131Lys)
c.479T>A (p.Met160Lys)
Xg.154993041T>ACA414919589F8c.496A>T (p.Met166Leu)
c.*282A>T (n.*282A>T)
c.391A>T (p.Met131Leu)
c.478A>T (p.Met160Leu)
Xg.154993041T>CCA414919591F8c.496A>G (p.Met166Val)
c.*282A>G (n.*282A>G)
c.391A>G (p.Met131Val)
c.478A>G (p.Met160Val)

Number of alleles fetched