Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43065430_43065849dupCA891843625CBSc.452-153_624dup
n.763-153_935dup
c.503-153_675dup
c.137-153_309dup
n.823-153_995dup
n.602-153_774dup
 ClinVar dbSNP
21g.43065618_43065697delCA2695230231CBSc.453_531+1del
n.764_842+1del
c.504_582+1del
c.138_216+1del
n.824_902+1del
n.603_681+1del
21g.43065633_43065654delCA2695230233CBSc.493_514del (p.Cys165ArgfsTer2)
n.804_825del
c.544_565del (p.Cys182ArgfsTer2)
c.178_199del (p.Cys60ArgfsTer2)
n.864_885del
n.643_664del
21g.43065643_43065645delinsAAGCA2579803312CBSc.502_504delinsCTT (p.Val168Leu)
n.813_815delinsCTT
c.553_555delinsCTT (p.Val185Leu)
c.187_189delinsCTT (p.Val63Leu)
n.873_875delinsCTT
n.652_654delinsCTT
21g.43065643_43065645delinsAATCA2579813369CBSc.502_504delinsATT (p.Val168Ile)
n.813_815delinsATT
c.553_555delinsATT (p.Val185Ile)
c.187_189delinsATT (p.Val63Ile)
n.873_875delinsATT
n.652_654delinsATT
21g.43065643_43065645delinsAGTCA2579803310CBSc.502_504delinsACT (p.Val168Thr)
n.813_815delinsACT
c.553_555delinsACT (p.Val185Thr)
c.187_189delinsACT (p.Val63Thr)
n.873_875delinsACT
n.652_654delinsACT
21g.43065643_43065645delinsGATCA2579803313CBSc.502_504delinsATC (p.Val168Ile)
n.813_815delinsATC
c.553_555delinsATC (p.Val185Ile)
c.187_189delinsATC (p.Val63Ile)
n.873_875delinsATC
n.652_654delinsATC
21g.43065643_43065645delinsTAACA2579803311CBSc.502_504delinsTTA (p.Val168Leu)
n.813_815delinsTTA
c.553_555delinsTTA (p.Val185Leu)
c.187_189delinsTTA (p.Val63Leu)
n.873_875delinsTTA
n.652_654delinsTTA
21g.43065643_43065645delinsTATCA2579813368CBSc.502_504delinsATA (p.Val168Ile)
n.813_815delinsATA
c.553_555delinsATA (p.Val185Ile)
c.187_189delinsATA (p.Val63Ile)
n.873_875delinsATA
n.652_654delinsATA
21g.43065644_43065645delCA2580099036CBSc.503_504del (p.Val168AspfsTer19)
c.503_504del (p.Val168AspfsTer?)
n.814_815del
c.554_555del (p.Val185AspfsTer19)
c.188_189del (p.Val63AspfsTer19)
n.874_875del
n.653_654del
 ClinVar
21g.43065644_43065645delinsCACA2579803308CBSc.502_503delinsTG (p.Val168Trp)
n.813_814delinsTG
c.553_554delinsTG (p.Val185Trp)
c.187_188delinsTG (p.Val63Trp)
n.873_874delinsTG
n.652_653delinsTG
21g.43065645C>ACA410601371CBSc.502G>T (p.Val168Leu)
n.813G>T
c.553G>T (p.Val185Leu)
c.187G>T (p.Val63Leu)
n.873G>T
n.652G>T
 dbSNP
21g.43065645C=CA2391103866CBSc.502G= (p.Val168=)
n.813G=
c.553G= (p.Val185=)
c.187G= (p.Val63=)
n.873G=
n.652G=
21g.43065645C>GCA410601372CBSc.502G>C (p.Val168Leu)
n.813G>C
c.553G>C (p.Val185Leu)
c.187G>C (p.Val63Leu)
n.873G>C
n.652G>C
21g.43065645C>TCA113895CBSc.502G>A (p.Val168Met)
n.813G>A
c.553G>A (p.Val185Met)
c.187G>A (p.Val63Met)
n.873G>A
n.652G>A
 ClinVar dbSNP gnomAD v4
21g.43065646G>ACA16608557CBSc.501C>T (p.Ile167=)
n.812C>T
c.552C>T (p.Ile184=)
c.186C>T (p.Ile62=)
n.872C>T
n.651C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065646G>CCA410601373CBSc.501C>G (p.Ile167Met)
n.812C>G
c.552C>G (p.Ile184Met)
c.186C>G (p.Ile62Met)
n.872C>G
n.651C>G
 dbSNP
21g.43065646G=CA2391103867CBSc.501C= (p.Ile167=)
n.812C=
c.552C= (p.Ile184=)
c.186C= (p.Ile62=)
n.872C=
n.651C=
21g.43065646_43065647delinsAGCA2579808518CBSc.500_501delinsCT (p.Ile167Thr)
n.811_812delinsCT
c.551_552delinsCT (p.Ile184Thr)
c.185_186delinsCT (p.Ile62Thr)
n.871_872delinsCT
n.650_651delinsCT
21g.43065646_43065648delinsAAACA2579808520CBSc.499_501delinsTTT (p.Ile167Phe)
n.810_812delinsTTT
c.550_552delinsTTT (p.Ile184Phe)
c.184_186delinsTTT (p.Ile62Phe)
n.870_872delinsTTT
n.649_651delinsTTT
21g.43065646_43065648delinsAACCA2579813661CBSc.499_501delinsGTT (p.Ile167Val)
n.810_812delinsGTT
c.550_552delinsGTT (p.Ile184Val)
c.184_186delinsGTT (p.Ile62Val)
n.870_872delinsGTT
n.649_651delinsGTT
21g.43065646_43065648delinsAAGCA2579808522CBSc.499_501delinsCTT (p.Ile167Leu)
n.810_812delinsCTT
c.550_552delinsCTT (p.Ile184Leu)
c.184_186delinsCTT (p.Ile62Leu)
n.870_872delinsCTT
n.649_651delinsCTT
21g.43065646_43065648delinsATCCA2579808521CBSc.499_501delinsGAT (p.Ile167Asp)
n.810_812delinsGAT
c.550_552delinsGAT (p.Ile184Asp)
c.184_186delinsGAT (p.Ile62Asp)
n.870_872delinsGAT
n.649_651delinsGAT
21g.43065646_43065648delinsCACCA2579808517CBSc.499_501delinsGTG (p.Ile167Val)
n.810_812delinsGTG
c.550_552delinsGTG (p.Ile184Val)
c.184_186delinsGTG (p.Ile62Val)
n.870_872delinsGTG
n.649_651delinsGTG
21g.43065647A>CCA410601375CBSc.500T>G (p.Ile167Ser)
n.811T>G
c.551T>G (p.Ile184Ser)
c.185T>G (p.Ile62Ser)
n.871T>G
n.650T>G
21g.43065647A>GCA410601377CBSc.500T>C (p.Ile167Thr)
n.811T>C
c.551T>C (p.Ile184Thr)
c.185T>C (p.Ile62Thr)
n.871T>C
n.650T>C
21g.43065647A>TCA410601378CBSc.500T>A (p.Ile167Asn)
n.811T>A
c.551T>A (p.Ile184Asn)
c.185T>A (p.Ile62Asn)
n.871T>A
n.650T>A
21g.43065647_43065648delinsGACA2579808519CBSc.499_500delinsTC (p.Ile167Ser)
n.810_811delinsTC
c.550_551delinsTC (p.Ile184Ser)
c.184_185delinsTC (p.Ile62Ser)
n.870_871delinsTC
n.649_650delinsTC
21g.43065648T>ACA410601380CBSc.499A>T (p.Ile167Phe)
n.810A>T
c.550A>T (p.Ile184Phe)
c.184A>T (p.Ile62Phe)
n.870A>T
n.649A>T
21g.43065648T>CCA410601382CBSc.499A>G (p.Ile167Val)
n.810A>G
c.550A>G (p.Ile184Val)
c.184A>G (p.Ile62Val)
n.870A>G
n.649A>G
21g.43065648T>GCA410601384CBSc.499A>C (p.Ile167Leu)
n.810A>C
c.550A>C (p.Ile184Leu)
c.184A>C (p.Ile62Leu)
n.870A>C
n.649A>C
21g.43065649G>CCA410601385CBSc.498C>G (p.Ile166Met)
n.809C>G
c.549C>G (p.Ile183Met)
c.183C>G (p.Ile61Met)
n.869C>G
n.648C>G
21g.43065649_43065650delinsAGCA2579808526CBSc.497_498delinsCT (p.Ile166Thr)
n.808_809delinsCT
c.548_549delinsCT (p.Ile183Thr)
c.182_183delinsCT (p.Ile61Thr)
n.868_869delinsCT
n.647_648delinsCT
21g.43065649_43065650delinsATCA2579808538CBSc.497_498delinsAT (p.Ile166Asn)
n.808_809delinsAT
c.548_549delinsAT (p.Ile183Asn)
c.182_183delinsAT (p.Ile61Asn)
n.868_869delinsAT
n.647_648delinsAT
21g.43065649_43065650delinsCGCA2579808527CBSc.497_498delinsCG (p.Ile166Thr)
n.808_809delinsCG
c.548_549delinsCG (p.Ile183Thr)
c.182_183delinsCG (p.Ile61Thr)
n.868_869delinsCG
n.647_648delinsCG
21g.43065649_43065650delinsTCCA2579808542CBSc.497_498delinsGA (p.Ile166Arg)
n.808_809delinsGA
c.548_549delinsGA (p.Ile183Arg)
c.182_183delinsGA (p.Ile61Arg)
n.868_869delinsGA
n.647_648delinsGA
21g.43065649_43065651delinsAAACA2579808531CBSc.496_498delinsTTT (p.Ile166Phe)
n.807_809delinsTTT
c.547_549delinsTTT (p.Ile183Phe)
c.181_183delinsTTT (p.Ile61Phe)
n.867_869delinsTTT
n.646_648delinsTTT
21g.43065649_43065651delinsAACCA2579808523CBSc.496_498delinsGTT (p.Ile166Val)
n.807_809delinsGTT
c.547_549delinsGTT (p.Ile183Val)
c.181_183delinsGTT (p.Ile61Val)
n.867_869delinsGTT
n.646_648delinsGTT
21g.43065649_43065651delinsAAGCA2579808532CBSc.496_498delinsCTT (p.Ile166Leu)
n.807_809delinsCTT
c.547_549delinsCTT (p.Ile183Leu)
c.181_183delinsCTT (p.Ile61Leu)
n.867_869delinsCTT
n.646_648delinsCTT
21g.43065649_43065651delinsACACA2579808537CBSc.496_498delinsTGT (p.Ile166Cys)
n.807_809delinsTGT
c.547_549delinsTGT (p.Ile183Cys)
c.181_183delinsTGT (p.Ile61Cys)
n.867_869delinsTGT
n.646_648delinsTGT
21g.43065649_43065651delinsACCCA2579808535CBSc.496_498delinsGGT (p.Ile166Gly)
n.807_809delinsGGT
c.547_549delinsGGT (p.Ile183Gly)
c.181_183delinsGGT (p.Ile61Gly)
n.867_869delinsGGT
n.646_648delinsGGT
21g.43065649_43065651delinsACGCA2579808539CBSc.496_498delinsCGT (p.Ile166Arg)
n.807_809delinsCGT
c.547_549delinsCGT (p.Ile183Arg)
c.181_183delinsCGT (p.Ile61Arg)
n.867_869delinsCGT
n.646_648delinsCGT
21g.43065649_43065651delinsAGACA2579808530CBSc.496_498delinsTCT (p.Ile166Ser)
n.807_809delinsTCT
c.547_549delinsTCT (p.Ile183Ser)
c.181_183delinsTCT (p.Ile61Ser)
n.867_869delinsTCT
n.646_648delinsTCT
21g.43065649_43065651delinsAGCCA2579808540CBSc.496_498delinsGCT (p.Ile166Ala)
n.807_809delinsGCT
c.547_549delinsGCT (p.Ile183Ala)
c.181_183delinsGCT (p.Ile61Ala)
n.867_869delinsGCT
n.646_648delinsGCT
21g.43065649_43065651delinsATACA2579808524CBSc.496_498delinsTAT (p.Ile166Tyr)
n.807_809delinsTAT
c.547_549delinsTAT (p.Ile183Tyr)
c.181_183delinsTAT (p.Ile61Tyr)
n.867_869delinsTAT
n.646_648delinsTAT
21g.43065649_43065651delinsCAACA2579808533CBSc.496_498delinsTTG (p.Ile166Leu)
n.807_809delinsTTG
c.547_549delinsTTG (p.Ile183Leu)
c.181_183delinsTTG (p.Ile61Leu)
n.867_869delinsTTG
n.646_648delinsTTG
21g.43065649_43065651delinsCACCA2579813662CBSc.496_498delinsGTG (p.Ile166Val)
n.807_809delinsGTG
c.547_549delinsGTG (p.Ile183Val)
c.181_183delinsGTG (p.Ile61Val)
n.867_869delinsGTG
n.646_648delinsGTG
21g.43065649_43065651delinsCAGCA2579808534CBSc.496_498delinsCTG (p.Ile166Leu)
n.807_809delinsCTG
c.547_549delinsCTG (p.Ile183Leu)
c.181_183delinsCTG (p.Ile61Leu)
n.867_869delinsCTG
n.646_648delinsCTG
21g.43065649_43065651delinsCCACA2579808525CBSc.496_498delinsTGG (p.Ile166Trp)
n.807_809delinsTGG
c.547_549delinsTGG (p.Ile183Trp)
c.181_183delinsTGG (p.Ile61Trp)
n.867_869delinsTGG
n.646_648delinsTGG
21g.43065649_43065651delinsCCCCA2579808536CBSc.496_498delinsGGG (p.Ile166Gly)
n.807_809delinsGGG
c.547_549delinsGGG (p.Ile183Gly)
c.181_183delinsGGG (p.Ile61Gly)
n.867_869delinsGGG
n.646_648delinsGGG
21g.43065649_43065651delinsCGACA2579808529CBSc.496_498delinsTCG (p.Ile166Ser)
n.807_809delinsTCG
c.547_549delinsTCG (p.Ile183Ser)
c.181_183delinsTCG (p.Ile61Ser)
n.867_869delinsTCG
n.646_648delinsTCG
21g.43065649_43065651delinsCTACA2579808528CBSc.496_498delinsTAG (p.Ile166Ter)
n.807_809delinsTAG
c.547_549delinsTAG (p.Ile183Ter)
c.181_183delinsTAG (p.Ile61Ter)
n.867_869delinsTAG
n.646_648delinsTAG
21g.43065650A>CCA410601387CBSc.497T>G (p.Ile166Ser)
n.808T>G
c.548T>G (p.Ile183Ser)
c.182T>G (p.Ile61Ser)
n.868T>G
n.647T>G
21g.43065650A>GCA410601389CBSc.497T>C (p.Ile166Thr)
n.808T>C
c.548T>C (p.Ile183Thr)
c.182T>C (p.Ile61Thr)
n.868T>C
n.647T>C
21g.43065650A>TCA410601390CBSc.497T>A (p.Ile166Asn)
n.808T>A
c.548T>A (p.Ile183Asn)
c.182T>A (p.Ile61Asn)
n.868T>A
n.647T>A
21g.43065651T>ACA410601392CBSc.496A>T (p.Ile166Phe)
n.807A>T
c.547A>T (p.Ile183Phe)
c.181A>T (p.Ile61Phe)
n.867A>T
n.646A>T
21g.43065651T>CCA410601393CBSc.496A>G (p.Ile166Val)
n.807A>G
c.547A>G (p.Ile183Val)
c.181A>G (p.Ile61Val)
n.867A>G
n.646A>G
21g.43065651T>GCA410601395CBSc.496A>C (p.Ile166Leu)
n.807A>C
c.547A>C (p.Ile183Leu)
c.181A>C (p.Ile61Leu)
n.867A>C
n.646A>C
 ClinVar dbSNP gnomAD v4
21g.43065651T=CA2391103868CBSc.496A= (p.Ile166=)
n.807A=
c.547A= (p.Ile183=)
c.181A= (p.Ile61=)
n.867A=
n.646A=
21g.43065652G>ACA2579810984CBSc.495C>T (p.Cys165=)
n.806C>T
c.546C>T (p.Cys182=)
c.180C>T (p.Cys60=)
n.866C>T
n.645C>T
 ClinVar
21g.43065652G>CCA410601399CBSc.495C>G (p.Cys165Trp)
n.806C>G
c.546C>G (p.Cys182Trp)
c.180C>G (p.Cys60Trp)
n.866C>G
n.645C>G
21g.43065652G>TCA410601397CBSc.495C>A (p.Cys165Ter)
n.806C>A
c.546C>A (p.Cys182Ter)
c.180C>A (p.Cys60Ter)
n.866C>A
n.645C>A
21g.43065652_43065653delinsAACA2579810977CBSc.494_495delinsTT (p.Cys165Phe)
n.805_806delinsTT
c.545_546delinsTT (p.Cys182Phe)
c.179_180delinsTT (p.Cys60Phe)
n.865_866delinsTT
n.644_645delinsTT
21g.43065652_43065653delinsAGCA2579810975CBSc.494_495delinsCT (p.Cys165Ser)
n.805_806delinsCT
c.545_546delinsCT (p.Cys182Ser)
c.179_180delinsCT (p.Cys60Ser)
n.865_866delinsCT
n.644_645delinsCT
21g.43065652_43065653delinsATCA2579810973CBSc.494_495delinsAT (p.Cys165Tyr)
n.805_806delinsAT
c.545_546delinsAT (p.Cys182Tyr)
c.179_180delinsAT (p.Cys60Tyr)
n.865_866delinsAT
n.644_645delinsAT
21g.43065652_43065653delinsCACA2579810980CBSc.494_495delinsTG (p.Cys165Leu)
n.805_806delinsTG
c.545_546delinsTG (p.Cys182Leu)
c.179_180delinsTG (p.Cys60Leu)
n.865_866delinsTG
n.644_645delinsTG
21g.43065652_43065653delinsCTCA2579810972CBSc.494_495delinsAG (p.Cys165Ter)
n.805_806delinsAG
c.545_546delinsAG (p.Cys182Ter)
c.179_180delinsAG (p.Cys60Ter)
n.865_866delinsAG
n.644_645delinsAG
21g.43065652_43065653delinsTACA2579810979CBSc.494_495delinsTA (p.Cys165Leu)
n.805_806delinsTA
c.545_546delinsTA (p.Cys182Leu)
c.179_180delinsTA (p.Cys60Leu)
n.865_866delinsTA
n.644_645delinsTA
21g.43065652_43065654delinsAATCA2579810981CBSc.493_495delinsATT (p.Cys165Ile)
n.804_806delinsATT
c.544_546delinsATT (p.Cys182Ile)
c.178_180delinsATT (p.Cys60Ile)
n.864_866delinsATT
n.643_645delinsATT
21g.43065652_43065654delinsACTCA2579810974CBSc.493_495delinsAGT (p.Cys165Ser)
n.804_806delinsAGT
c.544_546delinsAGT (p.Cys182Ser)
c.178_180delinsAGT (p.Cys60Ser)
n.864_866delinsAGT
n.643_645delinsAGT
21g.43065652_43065654delinsAGTCA2579810971CBSc.493_495delinsACT (p.Cys165Thr)
n.804_806delinsACT
c.544_546delinsACT (p.Cys182Thr)
c.178_180delinsACT (p.Cys60Thr)
n.864_866delinsACT
n.643_645delinsACT
21g.43065652_43065654delinsCATCA2579810978CBSc.493_495delinsATG (p.Cys165Met)
n.804_806delinsATG
c.544_546delinsATG (p.Cys182Met)
c.178_180delinsATG (p.Cys60Met)
n.864_866delinsATG
n.643_645delinsATG
21g.43065652_43065654delinsCCCCA2579810982CBSc.493_495delinsGGG (p.Cys165Gly)
n.804_806delinsGGG
c.544_546delinsGGG (p.Cys182Gly)
c.178_180delinsGGG (p.Cys60Gly)
n.864_866delinsGGG
n.643_645delinsGGG
21g.43065652_43065654delinsCCGCA2579810985CBSc.493_495delinsCGG (p.Cys165Arg)
n.804_806delinsCGG
c.544_546delinsCGG (p.Cys182Arg)
c.178_180delinsCGG (p.Cys60Arg)
n.864_866delinsCGG
n.643_645delinsCGG
21g.43065652_43065654delinsCGCCA2579810983CBSc.493_495delinsGCG (p.Cys165Ala)
n.804_806delinsGCG
c.544_546delinsGCG (p.Cys182Ala)
c.178_180delinsGCG (p.Cys60Ala)
n.864_866delinsGCG
n.643_645delinsGCG
21g.43065652_43065654delinsCGGCA2579810976CBSc.493_495delinsCCG (p.Cys165Pro)
n.804_806delinsCCG
c.544_546delinsCCG (p.Cys182Pro)
c.178_180delinsCCG (p.Cys60Pro)
n.864_866delinsCCG
n.643_645delinsCCG
21g.43065652_43065669dupCA2654728356CBSc.478_495dup (p.Cys165_Ile166insValArgGlyTyrArgCys)
n.789_806dup
c.529_546dup (p.Cys182_Ile183insValArgGlyTyrArgCys)
c.163_180dup (p.Cys60_Ile61insValArgGlyTyrArgCys)
n.849_866dup
n.628_645dup
 gnomAD v4
21g.43065653C>ACA410601400CBSc.494G>T (p.Cys165Phe)
n.805G>T
c.545G>T (p.Cys182Phe)
c.179G>T (p.Cys60Phe)
n.865G>T
n.644G>T
21g.43065653C=CA2391103869CBSc.494G= (p.Cys165=)
n.805G=
c.545G= (p.Cys182=)
c.179G= (p.Cys60=)
n.865G=
n.644G=
21g.43065653C>GCA410601401CBSc.494G>C (p.Cys165Ser)
n.805G>C
c.545G>C (p.Cys182Ser)
c.179G>C (p.Cys60Ser)
n.865G>C
n.644G>C
21g.43065653C>TCA410601403CBSc.494G>A (p.Cys165Tyr)
n.805G>A
c.545G>A (p.Cys182Tyr)
c.179G>A (p.Cys60Tyr)
n.865G>A
n.644G>A
 ClinVar dbSNP gnomAD v4
21g.43065654A=CA2391103870CBSc.493T= (p.Cys165=)
n.804T=
c.544T= (p.Cys182=)
c.178T= (p.Cys60=)
n.864T=
n.643T=
21g.43065654A>CCA410601405CBSc.493T>G (p.Cys165Gly)
n.804T>G
c.544T>G (p.Cys182Gly)
c.178T>G (p.Cys60Gly)
n.864T>G
n.643T>G
 ClinVar dbSNP
21g.43065654A>GCA410601406CBSc.493T>C (p.Cys165Arg)
n.804T>C
c.544T>C (p.Cys182Arg)
c.178T>C (p.Cys60Arg)
n.864T>C
n.643T>C
21g.43065654A>TCA410601408CBSc.493T>A (p.Cys165Ser)
n.804T>A
c.544T>A (p.Cys182Ser)
c.178T>A (p.Cys60Ser)
n.864T>A
n.643T>A
 dbSNP
21g.43065655G>ACA2579812154CBSc.492C>T (p.Arg164=)
n.803C>T
c.543C>T (p.Arg181=)
c.177C>T (p.Arg59=)
n.863C>T
n.642C>T
21g.43065655G>CCA749580062CBSc.492C>G (p.Arg164=)
n.803C>G
c.543C>G (p.Arg181=)
c.177C>G (p.Arg59=)
n.863C>G
n.642C>G
 ClinVar dbSNP gnomAD v4
21g.43065655G=CA2391103871CBSc.492C= (p.Arg164=)
n.803C=
c.543C= (p.Arg181=)
c.177C= (p.Arg59=)
n.863C=
n.642C=
21g.43065655_43065656delinsATCA2579812147CBSc.491_492delinsAT (p.Arg164His)
n.802_803delinsAT
c.542_543delinsAT (p.Arg181His)
c.176_177delinsAT (p.Arg59His)
n.862_863delinsAT
n.641_642delinsAT
21g.43065655_43065656delinsCACA2579812142CBSc.491_492delinsTG (p.Arg164Leu)
n.802_803delinsTG
c.542_543delinsTG (p.Arg181Leu)
c.176_177delinsTG (p.Arg59Leu)
n.862_863delinsTG
n.641_642delinsTG
21g.43065655_43065656delinsCTCA2579812149CBSc.491_492delinsAG (p.Arg164Gln)
n.802_803delinsAG
c.542_543delinsAG (p.Arg181Gln)
c.176_177delinsAG (p.Arg59Gln)
n.862_863delinsAG
n.641_642delinsAG
21g.43065655_43065657delinsAAACA2579812802CBSc.490_492delinsTTT (p.Arg164Phe)
n.801_803delinsTTT
c.541_543delinsTTT (p.Arg181Phe)
c.175_177delinsTTT (p.Arg59Phe)
n.861_863delinsTTT
n.640_642delinsTTT
21g.43065655_43065657delinsAACCA2579812795CBSc.490_492delinsGTT (p.Arg164Val)
n.801_803delinsGTT
c.541_543delinsGTT (p.Arg181Val)
c.175_177delinsGTT (p.Arg59Val)
n.861_863delinsGTT
n.640_642delinsGTT
21g.43065655_43065657delinsAATCA2579812146CBSc.490_492delinsATT (p.Arg164Ile)
n.801_803delinsATT
c.541_543delinsATT (p.Arg181Ile)
c.175_177delinsATT (p.Arg59Ile)
n.861_863delinsATT
n.640_642delinsATT
21g.43065655_43065657delinsACACA2579812150CBSc.490_492delinsTGT (p.Arg164Cys)
n.801_803delinsTGT
c.541_543delinsTGT (p.Arg181Cys)
c.175_177delinsTGT (p.Arg59Cys)
n.861_863delinsTGT
n.640_642delinsTGT
21g.43065655_43065657delinsACTCA2579812800CBSc.490_492delinsAGT (p.Arg164Ser)
n.801_803delinsAGT
c.541_543delinsAGT (p.Arg181Ser)
c.175_177delinsAGT (p.Arg59Ser)
n.861_863delinsAGT
n.640_642delinsAGT
21g.43065655_43065657delinsAGACA2579812801CBSc.490_492delinsTCT (p.Arg164Ser)
n.801_803delinsTCT
c.541_543delinsTCT (p.Arg181Ser)
c.175_177delinsTCT (p.Arg59Ser)
n.861_863delinsTCT
n.640_642delinsTCT
21g.43065655_43065657delinsATACA2579812797CBSc.490_492delinsTAT (p.Arg164Tyr)
n.801_803delinsTAT
c.541_543delinsTAT (p.Arg181Tyr)
c.175_177delinsTAT (p.Arg59Tyr)
n.861_863delinsTAT
n.640_642delinsTAT
21g.43065655_43065657delinsATCCA2579812151CBSc.490_492delinsGAT (p.Arg164Asp)
n.801_803delinsGAT
c.541_543delinsGAT (p.Arg181Asp)
c.175_177delinsGAT (p.Arg59Asp)
n.861_863delinsGAT
n.640_642delinsGAT
21g.43065655_43065657delinsCAACA2579812145CBSc.490_492delinsTTG (p.Arg164Leu)
n.801_803delinsTTG
c.541_543delinsTTG (p.Arg181Leu)
c.175_177delinsTTG (p.Arg59Leu)
n.861_863delinsTTG
n.640_642delinsTTG
21g.43065655_43065657delinsCACCA2579812794CBSc.490_492delinsGTG (p.Arg164Val)
n.801_803delinsGTG
c.541_543delinsGTG (p.Arg181Val)
c.175_177delinsGTG (p.Arg59Val)
n.861_863delinsGTG
n.640_642delinsGTG
21g.43065655_43065657delinsCATCA2579812144CBSc.490_492delinsATG (p.Arg164Met)
n.801_803delinsATG
c.541_543delinsATG (p.Arg181Met)
c.175_177delinsATG (p.Arg59Met)
n.861_863delinsATG
n.640_642delinsATG
21g.43065655_43065657delinsCCACA2579812798CBSc.490_492delinsTGG (p.Arg164Trp)
n.801_803delinsTGG
c.541_543delinsTGG (p.Arg181Trp)
c.175_177delinsTGG (p.Arg59Trp)
n.861_863delinsTGG
n.640_642delinsTGG
21g.43065655_43065657delinsCCCCA2579812148CBSc.490_492delinsGGG (p.Arg164Gly)
n.801_803delinsGGG
c.541_543delinsGGG (p.Arg181Gly)
c.175_177delinsGGG (p.Arg59Gly)
n.861_863delinsGGG
n.640_642delinsGGG
21g.43065655_43065657delinsCCTCA2579812155CBSc.490_492delinsAGG (p.Arg164=)
n.801_803delinsAGG
c.541_543delinsAGG (p.Arg181=)
c.175_177delinsAGG (p.Arg59=)
n.861_863delinsAGG
n.640_642delinsAGG
21g.43065655_43065657delinsCGCCA2579812152CBSc.490_492delinsGCG (p.Arg164Ala)
n.801_803delinsGCG
c.541_543delinsGCG (p.Arg181Ala)
c.175_177delinsGCG (p.Arg59Ala)
n.861_863delinsGCG
n.640_642delinsGCG
21g.43065655_43065657delinsCTACA2579812799CBSc.490_492delinsTAG (p.Arg164Ter)
n.801_803delinsTAG
c.541_543delinsTAG (p.Arg181Ter)
c.175_177delinsTAG (p.Arg59Ter)
n.861_863delinsTAG
n.640_642delinsTAG
21g.43065655_43065657delinsTACCA2579812796CBSc.490_492delinsGTA (p.Arg164Val)
n.801_803delinsGTA
c.541_543delinsGTA (p.Arg181Val)
c.175_177delinsGTA (p.Arg59Val)
n.861_863delinsGTA
n.640_642delinsGTA
21g.43065656C>ACA410601412CBSc.491G>T (p.Arg164Leu)
n.802G>T
c.542G>T (p.Arg181Leu)
c.176G>T (p.Arg59Leu)
n.862G>T
n.641G>T
21g.43065656C=CA2391103872CBSc.491G= (p.Arg164=)
n.802G=
c.542G= (p.Arg181=)
c.176G= (p.Arg59=)
n.862G=
n.641G=
21g.43065656C>GCA410601410CBSc.491G>C (p.Arg164Pro)
n.802G>C
c.542G>C (p.Arg181Pro)
c.176G>C (p.Arg59Pro)
n.862G>C
n.641G>C
21g.43065656C>TCA321096667CBSc.491G>A (p.Arg164His)
n.802G>A
c.542G>A (p.Arg181His)
c.176G>A (p.Arg59His)
n.862G>A
n.641G>A
 ClinVar dbSNP gnomAD v4
21g.43065656_43065657delinsAACA2579812805CBSc.490_491delinsTT (p.Arg164Phe)
n.801_802delinsTT
c.541_542delinsTT (p.Arg181Phe)
c.175_176delinsTT (p.Arg59Phe)
n.861_862delinsTT
n.640_641delinsTT
21g.43065656_43065657delinsTCCA2579812153CBSc.490_491delinsGA (p.Arg164Asp)
n.801_802delinsGA
c.541_542delinsGA (p.Arg181Asp)
c.175_176delinsGA (p.Arg59Asp)
n.861_862delinsGA
n.640_641delinsGA
21g.43065657G>ACA410601414CBSc.490C>T (p.Arg164Cys)
n.801C>T
c.541C>T (p.Arg181Cys)
c.175C>T (p.Arg59Cys)
n.861C>T
n.640C>T
 dbSNP gnomAD v4 COSMIC COSMIC
21g.43065657G>CCA410601417CBSc.490C>G (p.Arg164Gly)
n.801C>G
c.541C>G (p.Arg181Gly)
c.175C>G (p.Arg59Gly)
n.861C>G
n.640C>G
21g.43065657G=CA2391103873CBSc.490C= (p.Arg164=)
n.801C=
c.541C= (p.Arg181=)
c.175C= (p.Arg59=)
n.861C=
n.640C=
21g.43065657G>TCA410601419CBSc.490C>A (p.Arg164Ser)
n.801C>A
c.541C>A (p.Arg181Ser)
c.175C>A (p.Arg59Ser)
n.861C>A
n.640C>A
21g.43065658A=CA2391103874CBSc.489T= (p.Tyr163=)
n.800T=
c.540T= (p.Tyr180=)
c.174T= (p.Tyr58=)
n.860T=
n.639T=
21g.43065658A>CCA410601421CBSc.489T>G (p.Tyr163Ter)
n.800T>G
c.540T>G (p.Tyr180Ter)
c.174T>G (p.Tyr58Ter)
n.860T>G
n.639T>G
21g.43065658A>GCA321096671CBSc.489T>C (p.Tyr163=)
n.800T>C
c.540T>C (p.Tyr180=)
c.174T>C (p.Tyr58=)
n.860T>C
n.639T>C
 ClinVar dbSNP gnomAD v4
21g.43065658A>TCA410601423CBSc.489T>A (p.Tyr163Ter)
n.800T>A
c.540T>A (p.Tyr180Ter)
c.174T>A (p.Tyr58Ter)
n.860T>A
n.639T>A
21g.43065658_43065659delinsCACA2579803577CBSc.488_489delinsTG (p.Tyr163Leu)
n.799_800delinsTG
c.539_540delinsTG (p.Tyr180Leu)
c.173_174delinsTG (p.Tyr58Leu)
n.859_860delinsTG
n.638_639delinsTG
21g.43065658_43065659delinsCCCA2579803569CBSc.488_489delinsGG (p.Tyr163Trp)
n.799_800delinsGG
c.539_540delinsGG (p.Tyr180Trp)
c.173_174delinsGG (p.Tyr58Trp)
n.859_860delinsGG
n.638_639delinsGG
21g.43065658_43065659delinsCGCA2579803574CBSc.488_489delinsCG (p.Tyr163Ser)
n.799_800delinsCG
c.539_540delinsCG (p.Tyr180Ser)
c.173_174delinsCG (p.Tyr58Ser)
n.859_860delinsCG
n.638_639delinsCG
21g.43065658_43065660delinsCACCA2579803568CBSc.487_489delinsGTG (p.Tyr163Val)
n.798_800delinsGTG
c.538_540delinsGTG (p.Tyr180Val)
c.172_174delinsGTG (p.Tyr58Val)
n.858_860delinsGTG
n.637_639delinsGTG
21g.43065658_43065660delinsCATCA2579803573CBSc.487_489delinsATG (p.Tyr163Met)
n.798_800delinsATG
c.538_540delinsATG (p.Tyr180Met)
c.172_174delinsATG (p.Tyr58Met)
n.858_860delinsATG
n.637_639delinsATG
21g.43065658_43065660delinsCCCCA2579803580CBSc.487_489delinsGGG (p.Tyr163Gly)
n.798_800delinsGGG
c.538_540delinsGGG (p.Tyr180Gly)
c.172_174delinsGGG (p.Tyr58Gly)
n.858_860delinsGGG
n.637_639delinsGGG
21g.43065658_43065660delinsCCTCA2579803581CBSc.487_489delinsAGG (p.Tyr163Arg)
n.798_800delinsAGG
c.538_540delinsAGG (p.Tyr180Arg)
c.172_174delinsAGG (p.Tyr58Arg)
n.858_860delinsAGG
n.637_639delinsAGG
21g.43065658_43065660delinsCGCCA2579803583CBSc.487_489delinsGCG (p.Tyr163Ala)
n.798_800delinsGCG
c.538_540delinsGCG (p.Tyr180Ala)
c.172_174delinsGCG (p.Tyr58Ala)
n.858_860delinsGCG
n.637_639delinsGCG
21g.43065658_43065660delinsCTCCA2579803579CBSc.487_489delinsGAG (p.Tyr163Glu)
n.798_800delinsGAG
c.538_540delinsGAG (p.Tyr180Glu)
c.172_174delinsGAG (p.Tyr58Glu)
n.858_860delinsGAG
n.637_639delinsGAG
21g.43065658_43065660delinsCTTCA2579803575CBSc.487_489delinsAAG (p.Tyr163Lys)
n.798_800delinsAAG
c.538_540delinsAAG (p.Tyr180Lys)
c.172_174delinsAAG (p.Tyr58Lys)
n.858_860delinsAAG
n.637_639delinsAAG
21g.43065659T>ACA410601425CBSc.488A>T (p.Tyr163Phe)
n.799A>T
c.539A>T (p.Tyr180Phe)
c.173A>T (p.Tyr58Phe)
n.859A>T
n.638A>T
21g.43065659T>CCA410601428CBSc.488A>G (p.Tyr163Cys)
n.799A>G
c.539A>G (p.Tyr180Cys)
c.173A>G (p.Tyr58Cys)
n.859A>G
n.638A>G
 ClinVar dbSNP
21g.43065659T>GCA410601426CBSc.488A>C (p.Tyr163Ser)
n.799A>C
c.539A>C (p.Tyr180Ser)
c.173A>C (p.Tyr58Ser)
n.859A>C
n.638A>C
 gnomAD v4
21g.43065659_43065660delinsACCA2579803570CBSc.487_488delinsGT (p.Tyr163Val)
n.798_799delinsGT
c.538_539delinsGT (p.Tyr180Val)
c.172_173delinsGT (p.Tyr58Val)
n.858_859delinsGT
n.637_638delinsGT
21g.43065659_43065660delinsAGCA2579803576CBSc.487_488delinsCT (p.Tyr163Leu)
n.798_799delinsCT
c.538_539delinsCT (p.Tyr180Leu)
c.172_173delinsCT (p.Tyr58Leu)
n.858_859delinsCT
n.637_638delinsCT
21g.43065659_43065660delinsCCCA2579803578CBSc.487_488delinsGG (p.Tyr163Gly)
n.798_799delinsGG
c.538_539delinsGG (p.Tyr180Gly)
c.172_173delinsGG (p.Tyr58Gly)
n.858_859delinsGG
n.637_638delinsGG
21g.43065659_43065660delinsCGCA2579803582CBSc.487_488delinsCG (p.Tyr163Arg)
n.798_799delinsCG
c.538_539delinsCG (p.Tyr180Arg)
c.172_173delinsCG (p.Tyr58Arg)
n.858_859delinsCG
n.637_638delinsCG
21g.43065659_43065660delinsCTCA2579803572CBSc.487_488delinsAG (p.Tyr163Ser)
n.798_799delinsAG
c.538_539delinsAG (p.Tyr180Ser)
c.172_173delinsAG (p.Tyr58Ser)
n.858_859delinsAG
n.637_638delinsAG
21g.43065659_43065660delinsGCCA2579803584CBSc.487_488delinsGC (p.Tyr163Ala)
n.798_799delinsGC
c.538_539delinsGC (p.Tyr180Ala)
c.172_173delinsGC (p.Tyr58Ala)
n.858_859delinsGC
n.637_638delinsGC
21g.43065659_43065660delinsGTCA2579803571CBSc.487_488delinsAC (p.Tyr163Thr)
n.798_799delinsAC
c.538_539delinsAC (p.Tyr180Thr)
c.172_173delinsAC (p.Tyr58Thr)
n.858_859delinsAC
n.637_638delinsAC
21g.43065660A>CCA410601430CBSc.487T>G (p.Tyr163Asp)
n.798T>G
c.538T>G (p.Tyr180Asp)
c.172T>G (p.Tyr58Asp)
n.858T>G
n.637T>G
21g.43065660A>GCA410601432CBSc.487T>C (p.Tyr163His)
n.798T>C
c.538T>C (p.Tyr180His)
c.172T>C (p.Tyr58His)
n.858T>C
n.637T>C
21g.43065660A>TCA410601433CBSc.487T>A (p.Tyr163Asn)
n.798T>A
c.538T>A (p.Tyr180Asn)
c.172T>A (p.Tyr58Asn)
n.858T>A
n.637T>A
21g.43065661G>ACA749580065CBSc.486C>T (p.Gly162=)
n.797C>T
c.537C>T (p.Gly179=)
c.171C>T (p.Gly57=)
n.857C>T
n.636C>T
 dbSNP
21g.43065661G>CCA2579809591CBSc.486C>G (p.Gly162=)
n.797C>G
c.537C>G (p.Gly179=)
c.171C>G (p.Gly57=)
n.857C>G
n.636C>G
21g.43065661G=CA2391103875CBSc.486C= (p.Gly162=)
n.797C=
c.537C= (p.Gly179=)
c.171C= (p.Gly57=)
n.857C=
n.636C=
21g.43065661_43065662delinsCACA2579809581CBSc.485_486delinsTG (p.Gly162Val)
n.796_797delinsTG
c.536_537delinsTG (p.Gly179Val)
c.170_171delinsTG (p.Gly57Val)
n.856_857delinsTG
n.635_636delinsTG
21g.43065661_43065662delinsTACA2579809580CBSc.485_486delinsTA (p.Gly162Val)
n.796_797delinsTA
c.536_537delinsTA (p.Gly179Val)
c.170_171delinsTA (p.Gly57Val)
n.856_857delinsTA
n.635_636delinsTA
21g.43065661_43065663delinsAAACA2579809587CBSc.484_486delinsTTT (p.Gly162Phe)
n.795_797delinsTTT
c.535_537delinsTTT (p.Gly179Phe)
c.169_171delinsTTT (p.Gly57Phe)
n.855_857delinsTTT
n.634_636delinsTTT
21g.43065661_43065663delinsAAGCA2579809590CBSc.484_486delinsCTT (p.Gly162Leu)
n.795_797delinsCTT
c.535_537delinsCTT (p.Gly179Leu)
c.169_171delinsCTT (p.Gly57Leu)
n.855_857delinsCTT
n.634_636delinsCTT
21g.43065661_43065663delinsACACA2579809589CBSc.484_486delinsTGT (p.Gly162Cys)
n.795_797delinsTGT
c.535_537delinsTGT (p.Gly179Cys)
c.169_171delinsTGT (p.Gly57Cys)
n.855_857delinsTGT
n.634_636delinsTGT
21g.43065661_43065663delinsAGACA2579813722CBSc.484_486delinsTCT (p.Gly162Ser)
n.795_797delinsTCT
c.535_537delinsTCT (p.Gly179Ser)
c.169_171delinsTCT (p.Gly57Ser)
n.855_857delinsTCT
n.634_636delinsTCT
21g.43065661_43065663delinsAGGCA2579809586CBSc.484_486delinsCCT (p.Gly162Pro)
n.795_797delinsCCT
c.535_537delinsCCT (p.Gly179Pro)
c.169_171delinsCCT (p.Gly57Pro)
n.855_857delinsCCT
n.634_636delinsCCT
21g.43065661_43065663delinsAGTCA2579809585CBSc.484_486delinsACT (p.Gly162Thr)
n.795_797delinsACT
c.535_537delinsACT (p.Gly179Thr)
c.169_171delinsACT (p.Gly57Thr)
n.855_857delinsACT
n.634_636delinsACT
21g.43065661_43065663delinsCAACA2579809588CBSc.484_486delinsTTG (p.Gly162Leu)
n.795_797delinsTTG
c.535_537delinsTTG (p.Gly179Leu)
c.169_171delinsTTG (p.Gly57Leu)
n.855_857delinsTTG
n.634_636delinsTTG
21g.43065661_43065663delinsCCACA2579809583CBSc.484_486delinsTGG (p.Gly162Trp)
n.795_797delinsTGG
c.535_537delinsTGG (p.Gly179Trp)
c.169_171delinsTGG (p.Gly57Trp)
n.855_857delinsTGG
n.634_636delinsTGG
21g.43065662C>ACA410601435CBSc.485G>T (p.Gly162Val)
n.796G>T
c.536G>T (p.Gly179Val)
c.170G>T (p.Gly57Val)
n.856G>T
n.635G>T
21g.43065662C>GCA410601437CBSc.485G>C (p.Gly162Ala)
n.796G>C
c.536G>C (p.Gly179Ala)
c.170G>C (p.Gly57Ala)
n.856G>C
n.635G>C
21g.43065662C>TCA410601438CBSc.485G>A (p.Gly162Asp)
n.796G>A
c.536G>A (p.Gly179Asp)
c.170G>A (p.Gly57Asp)
n.856G>A
n.635G>A
 gnomAD v4
21g.43065662_43065663delinsGACA2579809584CBSc.484_485delinsTC (p.Gly162Ser)
n.795_796delinsTC
c.535_536delinsTC (p.Gly179Ser)
c.169_170delinsTC (p.Gly57Ser)
n.855_856delinsTC
n.634_635delinsTC
21g.43065662_43065663delinsTACA2579809582CBSc.484_485delinsTA (p.Gly162Tyr)
n.795_796delinsTA
c.535_536delinsTA (p.Gly179Tyr)
c.169_170delinsTA (p.Gly57Tyr)
n.855_856delinsTA
n.634_635delinsTA
21g.43065663_43065665dupCA920313692CBSc.483_485dup (p.Gly162_Tyr163insGly)
n.794_796dup
c.534_536dup (p.Gly179_Tyr180insGly)
c.168_170dup (p.Gly57_Tyr58insGly)
n.854_856dup
n.633_635dup
 dbSNP
21g.43065663C>ACA410601440CBSc.484G>T (p.Gly162Cys)
n.795G>T
c.535G>T (p.Gly179Cys)
c.169G>T (p.Gly57Cys)
n.855G>T
n.634G>T
21g.43065663C=CA2391103876CBSc.484G= (p.Gly162=)
n.795G=
c.535G= (p.Gly179=)
c.169G= (p.Gly57=)
n.855G=
n.634G=
21g.43065663C>GCA410601442CBSc.484G>C (p.Gly162Arg)
n.795G>C
c.535G>C (p.Gly179Arg)
c.169G>C (p.Gly57Arg)
n.855G>C
n.634G>C
21g.43065663C>TCA321096685CBSc.484G>A (p.Gly162Ser)
n.795G>A
c.535G>A (p.Gly179Ser)
c.169G>A (p.Gly57Ser)
n.855G>A
n.634G>A
 dbSNP gnomAD v4
21g.43065664C>ACA410601444CBSc.483G>T (p.Arg161Ser)
n.794G>T
c.534G>T (p.Arg178Ser)
c.168G>T (p.Arg56Ser)
n.854G>T
n.633G>T
21g.43065664C=CA2391103877CBSc.483G= (p.Arg161=)
n.794G=
c.534G= (p.Arg178=)
c.168G= (p.Arg56=)
n.854G=
n.633G=
21g.43065664C>GCA410601445CBSc.483G>C (p.Arg161Ser)
n.794G>C
c.534G>C (p.Arg178Ser)
c.168G>C (p.Arg56Ser)
n.854G>C
n.633G>C
21g.43065664C>TCA749580066CBSc.483G>A (p.Arg161=)
n.794G>A
c.534G>A (p.Arg178=)
c.168G>A (p.Arg56=)
n.854G>A
n.633G>A
 dbSNP
21g.43065664_43065665delinsAGCA2579812158CBSc.482_483delinsCT (p.Arg161Thr)
n.793_794delinsCT
c.533_534delinsCT (p.Arg178Thr)
c.167_168delinsCT (p.Arg56Thr)
n.853_854delinsCT
n.632_633delinsCT
21g.43065664_43065666delinsAACCA2579812156CBSc.481_483delinsGTT (p.Arg161Val)
n.792_794delinsGTT
c.532_534delinsGTT (p.Arg178Val)
c.166_168delinsGTT (p.Arg56Val)
n.852_854delinsGTT
n.631_633delinsGTT
21g.43065664_43065666delinsAAGCA2579812163CBSc.481_483delinsCTT (p.Arg161Leu)
n.792_794delinsCTT
c.532_534delinsCTT (p.Arg178Leu)
c.166_168delinsCTT (p.Arg56Leu)
n.852_854delinsCTT
n.631_633delinsCTT
21g.43065664_43065666delinsACACA2579812168CBSc.481_483delinsTGT (p.Arg161Cys)
n.792_794delinsTGT
c.532_534delinsTGT (p.Arg178Cys)
c.166_168delinsTGT (p.Arg56Cys)
n.852_854delinsTGT
n.631_633delinsTGT
21g.43065664_43065666delinsACCCA2579812164CBSc.481_483delinsGGT (p.Arg161Gly)
n.792_794delinsGGT
c.532_534delinsGGT (p.Arg178Gly)
c.166_168delinsGGT (p.Arg56Gly)
n.852_854delinsGGT
n.631_633delinsGGT
21g.43065664_43065666delinsAGACA2579812161CBSc.481_483delinsTCT (p.Arg161Ser)
n.792_794delinsTCT
c.532_534delinsTCT (p.Arg178Ser)
c.166_168delinsTCT (p.Arg56Ser)
n.852_854delinsTCT
n.631_633delinsTCT
21g.43065664_43065666delinsATCCA2579812169CBSc.481_483delinsGAT (p.Arg161Asp)
n.792_794delinsGAT
c.532_534delinsGAT (p.Arg178Asp)
c.166_168delinsGAT (p.Arg56Asp)
n.852_854delinsGAT
n.631_633delinsGAT
21g.43065664_43065666delinsTCACA2579812160CBSc.481_483delinsTGA (p.Arg161Ter)
n.792_794delinsTGA
c.532_534delinsTGA (p.Arg178Ter)
c.166_168delinsTGA (p.Arg56Ter)
n.852_854delinsTGA
n.631_633delinsTGA
21g.43065664_43065666delinsTCCCA2579812165CBSc.481_483delinsGGA (p.Arg161Gly)
n.792_794delinsGGA
c.532_534delinsGGA (p.Arg178Gly)
c.166_168delinsGGA (p.Arg56Gly)
n.852_854delinsGGA
n.631_633delinsGGA
21g.43065664_43065666delinsTCGCA2579812167CBSc.481_483delinsCGA (p.Arg161=)
n.792_794delinsCGA
c.532_534delinsCGA (p.Arg178=)
c.166_168delinsCGA (p.Arg56=)
n.852_854delinsCGA
n.631_633delinsCGA
21g.43065665C>ACA410601448CBSc.482G>T (p.Arg161Met)
n.793G>T
c.533G>T (p.Arg178Met)
c.167G>T (p.Arg56Met)
n.853G>T
n.632G>T
21g.43065665C>GCA410601451CBSc.482G>C (p.Arg161Thr)
n.793G>C
c.533G>C (p.Arg178Thr)
c.167G>C (p.Arg56Thr)
n.853G>C
n.632G>C
21g.43065665C>TCA410601449CBSc.482G>A (p.Arg161Lys)
n.793G>A
c.533G>A (p.Arg178Lys)
c.167G>A (p.Arg56Lys)
n.853G>A
n.632G>A
 gnomAD v4
21g.43065665_43065666delinsAACA2579812162CBSc.481_482delinsTT (p.Arg161Leu)
n.792_793delinsTT
c.532_533delinsTT (p.Arg178Leu)
c.166_167delinsTT (p.Arg56Leu)
n.852_853delinsTT
n.631_632delinsTT
21g.43065665_43065666delinsACCA2579812157CBSc.481_482delinsGT (p.Arg161Val)
n.792_793delinsGT
c.532_533delinsGT (p.Arg178Val)
c.166_167delinsGT (p.Arg56Val)
n.852_853delinsGT
n.631_632delinsGT
21g.43065665_43065666delinsTACA2579812159CBSc.481_482delinsTA (p.Arg161Ter)
n.792_793delinsTA
c.532_533delinsTA (p.Arg178Ter)
c.166_167delinsTA (p.Arg56Ter)
n.852_853delinsTA
n.631_632delinsTA
21g.43065665_43065666delinsTCCA2579812166CBSc.481_482delinsGA (p.Arg161Glu)
n.792_793delinsGA
c.532_533delinsGA (p.Arg178Glu)
c.166_167delinsGA (p.Arg56Glu)
n.852_853delinsGA
n.631_632delinsGA
21g.43065666delCA2573157483CBSc.481del (p.Arg161GlyfsTer8)
n.792del
c.532del (p.Arg178GlyfsTer8)
c.166del (p.Arg56GlyfsTer8)
n.852del
n.631del
 ClinVar dbSNP
21g.43065666T>ACA410601452CBSc.481A>T (p.Arg161Trp)
n.792A>T
c.532A>T (p.Arg178Trp)
c.166A>T (p.Arg56Trp)
n.852A>T
n.631A>T
21g.43065666T>CCA410601453CBSc.481A>G (p.Arg161Gly)
n.792A>G
c.532A>G (p.Arg178Gly)
c.166A>G (p.Arg56Gly)
n.852A>G
n.631A>G
21g.43065667C=CA2391103878CBSc.480G= (p.Val160=)
n.791G=
c.531G= (p.Val177=)
c.165G= (p.Val55=)
n.851G=
n.630G=
21g.43065667C>TCA749580067CBSc.480G>A (p.Val160=)
n.791G>A
c.531G>A (p.Val177=)
c.165G>A (p.Val55=)
n.851G>A
n.630G>A
 dbSNP
21g.43065667_43065668delinsACCA2579803324CBSc.479_480delinsGT (p.Val160Gly)
n.790_791delinsGT
c.530_531delinsGT (p.Val177Gly)
c.164_165delinsGT (p.Val55Gly)
n.850_851delinsGT
n.629_630delinsGT
21g.43065667_43065668delinsAGCA2579803331CBSc.479_480delinsCT (p.Val160Ala)
n.790_791delinsCT
c.530_531delinsCT (p.Val177Ala)
c.164_165delinsCT (p.Val55Ala)
n.850_851delinsCT
n.629_630delinsCT
21g.43065667_43065668delinsATCA2579803329CBSc.479_480delinsAT (p.Val160Asp)
n.790_791delinsAT
c.530_531delinsAT (p.Val177Asp)
c.164_165delinsAT (p.Val55Asp)
n.850_851delinsAT
n.629_630delinsAT
21g.43065667_43065669delinsAAACA2579803320CBSc.478_480delinsTTT (p.Val160Phe)
n.789_791delinsTTT
c.529_531delinsTTT (p.Val177Phe)
c.163_165delinsTTT (p.Val55Phe)
n.849_851delinsTTT
n.628_630delinsTTT
21g.43065667_43065669delinsAATCA2579803323CBSc.478_480delinsATT (p.Val160Ile)
n.789_791delinsATT
c.529_531delinsATT (p.Val177Ile)
c.163_165delinsATT (p.Val55Ile)
n.849_851delinsATT
n.628_630delinsATT
21g.43065667_43065669delinsACACA2579803328CBSc.478_480delinsTGT (p.Val160Cys)
n.789_791delinsTGT
c.529_531delinsTGT (p.Val177Cys)
c.163_165delinsTGT (p.Val55Cys)
n.849_851delinsTGT
n.628_630delinsTGT
21g.43065667_43065669delinsACGCA2579803330CBSc.478_480delinsCGT (p.Val160Arg)
n.789_791delinsCGT
c.529_531delinsCGT (p.Val177Arg)
c.163_165delinsCGT (p.Val55Arg)
n.849_851delinsCGT
n.628_630delinsCGT
21g.43065667_43065669delinsAGACA2579803317CBSc.478_480delinsTCT (p.Val160Ser)
n.789_791delinsTCT
c.529_531delinsTCT (p.Val177Ser)
c.163_165delinsTCT (p.Val55Ser)
n.849_851delinsTCT
n.628_630delinsTCT
21g.43065667_43065669delinsAGGCA2579803319CBSc.478_480delinsCCT (p.Val160Pro)
n.789_791delinsCCT
c.529_531delinsCCT (p.Val177Pro)
c.163_165delinsCCT (p.Val55Pro)
n.849_851delinsCCT
n.628_630delinsCCT
21g.43065667_43065669delinsATGCA2579803325CBSc.478_480delinsCAT (p.Val160His)
n.789_791delinsCAT
c.529_531delinsCAT (p.Val177His)
c.163_165delinsCAT (p.Val55His)
n.849_851delinsCAT
n.628_630delinsCAT
21g.43065667_43065669delinsTAACA2579803322CBSc.478_480delinsTTA (p.Val160Leu)
n.789_791delinsTTA
c.529_531delinsTTA (p.Val177Leu)
c.163_165delinsTTA (p.Val55Leu)
n.849_851delinsTTA
n.628_630delinsTTA
21g.43065668A>CCA410601454CBSc.479T>G (p.Val160Gly)
n.790T>G
c.530T>G (p.Val177Gly)
c.164T>G (p.Val55Gly)
n.850T>G
n.629T>G
21g.43065668A>GCA410601455CBSc.479T>C (p.Val160Ala)
n.790T>C
c.530T>C (p.Val177Ala)
c.164T>C (p.Val55Ala)
n.850T>C
n.629T>C
21g.43065668A>TCA410601457CBSc.479T>A (p.Val160Glu)
n.790T>A
c.530T>A (p.Val177Glu)
c.164T>A (p.Val55Glu)
n.850T>A
n.629T>A
21g.43065668_43065669delinsCACA2579803314CBSc.478_479delinsTG (p.Val160Trp)
n.789_790delinsTG
c.529_530delinsTG (p.Val177Trp)
c.163_164delinsTG (p.Val55Trp)
n.849_850delinsTG
n.628_629delinsTG
21g.43065668_43065669delinsCGCA2579803333CBSc.478_479delinsCG (p.Val160Arg)
n.789_790delinsCG
c.529_530delinsCG (p.Val177Arg)
c.163_164delinsCG (p.Val55Arg)
n.849_850delinsCG
n.628_629delinsCG
21g.43065668_43065669delinsCTCA2579803327CBSc.478_479delinsAG (p.Val160Arg)
n.789_790delinsAG
c.529_530delinsAG (p.Val177Arg)
c.163_164delinsAG (p.Val55Arg)
n.849_850delinsAG
n.628_629delinsAG
21g.43065668_43065669delinsGACA2579803316CBSc.478_479delinsTC (p.Val160Ser)
n.789_790delinsTC
c.529_530delinsTC (p.Val177Ser)
c.163_164delinsTC (p.Val55Ser)
n.849_850delinsTC
n.628_629delinsTC
21g.43065668_43065669delinsGGCA2579803318CBSc.478_479delinsCC (p.Val160Pro)
n.789_790delinsCC
c.529_530delinsCC (p.Val177Pro)
c.163_164delinsCC (p.Val55Pro)
n.849_850delinsCC
n.628_629delinsCC
21g.43065668_43065669delinsGTCA2579803315CBSc.478_479delinsAC (p.Val160Thr)
n.789_790delinsAC
c.529_530delinsAC (p.Val177Thr)
c.163_164delinsAC (p.Val55Thr)
n.849_850delinsAC
n.628_629delinsAC
21g.43065668_43065669delinsTGCA2579803326CBSc.478_479delinsCA (p.Val160Gln)
n.789_790delinsCA
c.529_530delinsCA (p.Val177Gln)
c.163_164delinsCA (p.Val55Gln)
n.849_850delinsCA
n.628_629delinsCA
21g.43065668_43065669delinsTTCA2579803321CBSc.478_479delinsAA (p.Val160Lys)
n.789_790delinsAA
c.529_530delinsAA (p.Val177Lys)
c.163_164delinsAA (p.Val55Lys)
n.849_850delinsAA
n.628_629delinsAA
21g.43065669C>ACA410601459CBSc.478G>T (p.Val160Leu)
n.789G>T
c.529G>T (p.Val177Leu)
c.163G>T (p.Val55Leu)
n.849G>T
n.628G>T
21g.43065669C>GCA410601461CBSc.478G>C (p.Val160Leu)
n.789G>C
c.529G>C (p.Val177Leu)
c.163G>C (p.Val55Leu)
n.849G>C
n.628G>C
21g.43065669C>TCA410601462CBSc.478G>A (p.Val160Met)
n.789G>A
c.529G>A (p.Val177Met)
c.163G>A (p.Val55Met)
n.849G>A
n.628G>A
 gnomAD v4
21g.43065672_43065698delCA2695230234CBSc.452_478del
n.763_789del
c.503_529del
c.137_163del
n.823_849del
n.602_628del
21g.43065670T>ACA2654728357CBSc.477A>T (p.Ala159=)
n.788A>T
c.528A>T (p.Ala176=)
c.162A>T (p.Ala54=)
n.848A>T
n.627A>T
 gnomAD v4
21g.43065670T=CA2391103879CBSc.477A= (p.Ala159=)
n.788A=
c.528A= (p.Ala176=)
c.162A= (p.Ala54=)
n.848A=
n.627A=
21g.43065670_43065671delinsAACA2579813143CBSc.476_477delinsTT (p.Ala159Val)
n.787_788delinsTT
c.527_528delinsTT (p.Ala176Val)
c.161_162delinsTT (p.Ala54Val)
n.847_848delinsTT
n.626_627delinsTT
21g.43065670_43065671delinsATCA2579813161CBSc.476_477delinsAT (p.Ala159Asp)
n.787_788delinsAT
c.527_528delinsAT (p.Ala176Asp)
c.161_162delinsAT (p.Ala54Asp)
n.847_848delinsAT
n.626_627delinsAT
21g.43065670_43065671delinsCACA2579813142CBSc.476_477delinsTG (p.Ala159Val)
n.787_788delinsTG
c.527_528delinsTG (p.Ala176Val)
c.161_162delinsTG (p.Ala54Val)
n.847_848delinsTG
n.626_627delinsTG
21g.43065670_43065671delinsCCCA2579813157CBSc.476_477delinsGG (p.Ala159Gly)
n.787_788delinsGG
c.527_528delinsGG (p.Ala176Gly)
c.161_162delinsGG (p.Ala54Gly)
n.847_848delinsGG
n.626_627delinsGG
21g.43065670_43065671delinsCTCA2579813159CBSc.476_477delinsAG (p.Ala159Glu)
n.787_788delinsAG
c.527_528delinsAG (p.Ala176Glu)
c.161_162delinsAG (p.Ala54Glu)
n.847_848delinsAG
n.626_627delinsAG
21g.43065670_43065672delinsAAACA2579813151CBSc.475_477delinsTTT (p.Ala159Phe)
n.786_788delinsTTT
c.526_528delinsTTT (p.Ala176Phe)
c.160_162delinsTTT (p.Ala54Phe)
n.846_848delinsTTT
n.625_627delinsTTT
21g.43065670_43065672delinsAAGCA2579813152CBSc.475_477delinsCTT (p.Ala159Leu)
n.786_788delinsCTT
c.526_528delinsCTT (p.Ala176Leu)
c.160_162delinsCTT (p.Ala54Leu)
n.846_848delinsCTT
n.625_627delinsCTT
21g.43065670_43065672delinsAATCA2579813158CBSc.475_477delinsATT (p.Ala159Ile)
n.786_788delinsATT
c.526_528delinsATT (p.Ala176Ile)
c.160_162delinsATT (p.Ala54Ile)
n.846_848delinsATT
n.625_627delinsATT
21g.43065670_43065672delinsACACA2579813160CBSc.475_477delinsTGT (p.Ala159Cys)
n.786_788delinsTGT
c.526_528delinsTGT (p.Ala176Cys)
c.160_162delinsTGT (p.Ala54Cys)
n.846_848delinsTGT
n.625_627delinsTGT
21g.43065670_43065672delinsACGCA2579813164CBSc.475_477delinsCGT (p.Ala159Arg)
n.786_788delinsCGT
c.526_528delinsCGT (p.Ala176Arg)
c.160_162delinsCGT (p.Ala54Arg)
n.846_848delinsCGT
n.625_627delinsCGT
21g.43065670_43065672delinsACTCA2579813930CBSc.475_477delinsAGT (p.Ala159Ser)
n.786_788delinsAGT
c.526_528delinsAGT (p.Ala176Ser)
c.160_162delinsAGT (p.Ala54Ser)
n.846_848delinsAGT
n.625_627delinsAGT
21g.43065670_43065672delinsAGACA2579813149CBSc.475_477delinsTCT (p.Ala159Ser)
n.786_788delinsTCT
c.526_528delinsTCT (p.Ala176Ser)
c.160_162delinsTCT (p.Ala54Ser)
n.846_848delinsTCT
n.625_627delinsTCT
21g.43065670_43065672delinsAGTCA2579813145CBSc.475_477delinsACT (p.Ala159Thr)
n.786_788delinsACT
c.526_528delinsACT (p.Ala176Thr)
c.160_162delinsACT (p.Ala54Thr)
n.846_848delinsACT
n.625_627delinsACT
21g.43065670_43065672delinsATACA2579813144CBSc.475_477delinsTAT (p.Ala159Tyr)
n.786_788delinsTAT
c.526_528delinsTAT (p.Ala176Tyr)
c.160_162delinsTAT (p.Ala54Tyr)
n.846_848delinsTAT
n.625_627delinsTAT
21g.43065670_43065672delinsATTCA2579813162CBSc.475_477delinsAAT (p.Ala159Asn)
n.786_788delinsAAT
c.526_528delinsAAT (p.Ala176Asn)
c.160_162delinsAAT (p.Ala54Asn)
n.846_848delinsAAT
n.625_627delinsAAT
21g.43065670_43065672delinsCAACA2579813155CBSc.475_477delinsTTG (p.Ala159Leu)
n.786_788delinsTTG
c.526_528delinsTTG (p.Ala176Leu)
c.160_162delinsTTG (p.Ala54Leu)
n.846_848delinsTTG
n.625_627delinsTTG
21g.43065670_43065672delinsCAGCA2579813153CBSc.475_477delinsCTG (p.Ala159Leu)
n.786_788delinsCTG
c.526_528delinsCTG (p.Ala176Leu)
c.160_162delinsCTG (p.Ala54Leu)
n.846_848delinsCTG
n.625_627delinsCTG
21g.43065670_43065672delinsCCACA2579813146CBSc.475_477delinsTGG (p.Ala159Trp)
n.786_788delinsTGG
c.526_528delinsTGG (p.Ala176Trp)
c.160_162delinsTGG (p.Ala54Trp)
n.846_848delinsTGG
n.625_627delinsTGG
21g.43065670_43065672delinsCCGCA2579813931CBSc.475_477delinsCGG (p.Ala159Arg)
n.786_788delinsCGG
c.526_528delinsCGG (p.Ala176Arg)
c.160_162delinsCGG (p.Ala54Arg)
n.846_848delinsCGG
n.625_627delinsCGG
21g.43065670_43065672delinsCCTCA2579813163CBSc.475_477delinsAGG (p.Ala159Arg)
n.786_788delinsAGG
c.526_528delinsAGG (p.Ala176Arg)
c.160_162delinsAGG (p.Ala54Arg)
n.846_848delinsAGG
n.625_627delinsAGG
21g.43065670_43065672delinsCGTCA2579813147CBSc.475_477delinsACG (p.Ala159Thr)
n.786_788delinsACG
c.526_528delinsACG (p.Ala176Thr)
c.160_162delinsACG (p.Ala54Thr)
n.846_848delinsACG
n.625_627delinsACG
21g.43065670_43065672delinsCTACA2579813148CBSc.475_477delinsTAG (p.Ala159Ter)
n.786_788delinsTAG
c.526_528delinsTAG (p.Ala176Ter)
c.160_162delinsTAG (p.Ala54Ter)
n.846_848delinsTAG
n.625_627delinsTAG
21g.43065670_43065672delinsGGGCA2579813150CBSc.475_477delinsCCC (p.Ala159Pro)
n.786_788delinsCCC
c.526_528delinsCCC (p.Ala176Pro)
c.160_162delinsCCC (p.Ala54Pro)
n.846_848delinsCCC
n.625_627delinsCCC
21g.43065670_43065691delCA2573157484CBSc.456_477del (p.Ile152MetfsTer2)
n.767_788del
c.507_528del (p.Ile169MetfsTer2)
c.141_162del (p.Ile47MetfsTer2)
n.827_848del
n.606_627del
 ClinVar dbSNP
21g.43065671delCA2654728358CBSc.476del (p.Ala159GlufsTer2)
n.787del
c.527del (p.Ala176GlufsTer2)
c.161del (p.Ala54GlufsTer2)
n.847del
n.626del
 gnomAD v4
21g.43065671G>ACA410601463CBSc.476C>T (p.Ala159Val)
n.787C>T
c.527C>T (p.Ala176Val)
c.161C>T (p.Ala54Val)
n.847C>T
n.626C>T
21g.43065671G>CCA410601465CBSc.476C>G (p.Ala159Gly)
n.787C>G
c.527C>G (p.Ala176Gly)
c.161C>G (p.Ala54Gly)
n.847C>G
n.626C>G
21g.43065671G>TCA410601467CBSc.476C>A (p.Ala159Glu)
n.787C>A
c.527C>A (p.Ala176Glu)
c.161C>A (p.Ala54Glu)
n.847C>A
n.626C>A
21g.43065671_43065672insGGCCTGGCA2695230235CBSc.476_477insCAGGCCC (p.Val160ArgfsTer30)
c.476_477insCAGGCCC (p.Val160ArgfsTer?)
n.787_788insCAGGCCC
c.527_528insCAGGCCC (p.Val177ArgfsTer30)
c.161_162insCAGGCCC (p.Val55ArgfsTer30)
n.847_848insCAGGCCC
n.626_627insCAGGCCC
21g.43065671_43065672insGGCCCTGGCA1139666882CBSc.476_477insCAGGGCCC (p.Val160ArgfsTer4)
n.787_788insCAGGGCCC
c.527_528insCAGGGCCC (p.Val177ArgfsTer4)
c.161_162insCAGGGCCC (p.Val55ArgfsTer4)
n.847_848insCAGGGCCC
n.626_627insCAGGGCCC
 ClinVar dbSNP
21g.43065671_43065672delinsAACA2579813154CBSc.475_476delinsTT (p.Ala159Leu)
n.786_787delinsTT
c.526_527delinsTT (p.Ala176Leu)
c.160_161delinsTT (p.Ala54Leu)
n.846_847delinsTT
n.625_626delinsTT
21g.43065671_43065672delinsATCA2579813156CBSc.475_476delinsAT (p.Ala159Ile)
n.786_787delinsAT
c.526_527delinsAT (p.Ala176Ile)
c.160_161delinsAT (p.Ala54Ile)
n.846_847delinsAT
n.625_626delinsAT
21g.43065671_43065672delinsCTCA2579813166CBSc.475_476delinsAG (p.Ala159Arg)
n.786_787delinsAG
c.526_527delinsAG (p.Ala176Arg)
c.160_161delinsAG (p.Ala54Arg)
n.846_847delinsAG
n.625_626delinsAG
21g.43065672C>ACA410601468CBSc.475G>T (p.Ala159Ser)
n.786G>T
c.526G>T (p.Ala176Ser)
c.160G>T (p.Ala54Ser)
n.846G>T
n.625G>T
21g.43065672C=CA2391103880CBSc.475G= (p.Ala159=)
n.786G=
c.526G= (p.Ala176=)
c.160G= (p.Ala54=)
n.846G=
n.625G=
21g.43065672C>GCA410601469CBSc.475G>C (p.Ala159Pro)
n.786G>C
c.526G>C (p.Ala176Pro)
c.160G>C (p.Ala54Pro)
n.846G>C
n.625G>C
21g.43065672C>TCA410601470CBSc.475G>A (p.Ala159Thr)
n.786G>A
c.526G>A (p.Ala176Thr)
c.160G>A (p.Ala54Thr)
n.846G>A
n.625G>A
 dbSNP
21g.43065673C=CA2391103881CBSc.474G= (p.Ala158=)
n.785G=
c.525G= (p.Ala175=)
c.159G= (p.Ala53=)
n.845G=
n.624G=
21g.43065673C>GCA2580099037CBSc.474G>C (p.Ala158=)
n.785G>C
c.525G>C (p.Ala175=)
c.159G>C (p.Ala53=)
n.845G>C
n.624G>C
 ClinVar dbSNP
21g.43065673C>TCA321096692CBSc.474G>A (p.Ala158=)
n.785G>A
c.525G>A (p.Ala175=)
c.159G>A (p.Ala53=)
n.845G>A
n.624G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065673_43065674delinsGACA2579813165CBSc.473_474delinsTC (p.Ala158Val)
n.784_785delinsTC
c.524_525delinsTC (p.Ala175Val)
c.158_159delinsTC (p.Ala53Val)
n.844_845delinsTC
n.623_624delinsTC
21g.43065673_43065674delinsGTCA2579813173CBSc.473_474delinsAC (p.Ala158Asp)
n.784_785delinsAC
c.524_525delinsAC (p.Ala175Asp)
c.158_159delinsAC (p.Ala53Asp)
n.844_845delinsAC
n.623_624delinsAC
21g.43065673_43065675delinsAAACA2579813168CBSc.472_474delinsTTT (p.Ala158Phe)
n.783_785delinsTTT
c.523_525delinsTTT (p.Ala175Phe)
c.157_159delinsTTT (p.Ala53Phe)
n.843_845delinsTTT
n.622_624delinsTTT
21g.43065673_43065675delinsAATCA2579813171CBSc.472_474delinsATT (p.Ala158Ile)
n.783_785delinsATT
c.523_525delinsATT (p.Ala175Ile)
c.157_159delinsATT (p.Ala53Ile)
n.843_845delinsATT
n.622_624delinsATT
21g.43065673_43065675delinsACACA2579813172CBSc.472_474delinsTGT (p.Ala158Cys)
n.783_785delinsTGT
c.523_525delinsTGT (p.Ala175Cys)
c.157_159delinsTGT (p.Ala53Cys)
n.843_845delinsTGT
n.622_624delinsTGT
21g.43065673_43065675delinsACGCA2579813175CBSc.472_474delinsCGT (p.Ala158Arg)
n.783_785delinsCGT
c.523_525delinsCGT (p.Ala175Arg)
c.157_159delinsCGT (p.Ala53Arg)
n.843_845delinsCGT
n.622_624delinsCGT
21g.43065673_43065675delinsAGTCA2579813167CBSc.472_474delinsACT (p.Ala158Thr)
n.783_785delinsACT
c.523_525delinsACT (p.Ala175Thr)
c.157_159delinsACT (p.Ala53Thr)
n.843_845delinsACT
n.622_624delinsACT
21g.43065673_43065675delinsGGTCA2579813932CBSc.472_474delinsACC (p.Ala158Thr)
n.783_785delinsACC
c.523_525delinsACC (p.Ala175Thr)
c.157_159delinsACC (p.Ala53Thr)
n.843_845delinsACC
n.622_624delinsACC
21g.43065673_43065675delinsTGACA2579813169CBSc.472_474delinsTCA (p.Ala158Ser)
n.783_785delinsTCA
c.523_525delinsTCA (p.Ala175Ser)
c.157_159delinsTCA (p.Ala53Ser)
n.843_845delinsTCA
n.622_624delinsTCA
21g.43065674G>ACA410601473CBSc.473C>T (p.Ala158Val)
n.784C>T
c.524C>T (p.Ala175Val)
c.158C>T (p.Ala53Val)
n.844C>T
n.623C>T
 ClinVar dbSNP gnomAD v4
21g.43065674G>CCA410601476CBSc.473C>G (p.Ala158Gly)
n.784C>G
c.524C>G (p.Ala175Gly)
c.158C>G (p.Ala53Gly)
n.844C>G
n.623C>G
21g.43065674G=CA2391103882CBSc.473C= (p.Ala158=)
n.784C=
c.524C= (p.Ala175=)
c.158C= (p.Ala53=)
n.844C=
n.623C=
21g.43065674G>TCA410601475CBSc.473C>A (p.Ala158Glu)
n.784C>A
c.524C>A (p.Ala175Glu)
c.158C>A (p.Ala53Glu)
n.844C>A
n.623C>A
 dbSNP
21g.43065674_43065675delinsATCA2579813170CBSc.472_473delinsAT (p.Ala158Met)
n.783_784delinsAT
c.523_524delinsAT (p.Ala175Met)
c.157_158delinsAT (p.Ala53Met)
n.843_844delinsAT
n.622_623delinsAT
21g.43065674_43065675delinsCGCA2579813174CBSc.472_473delinsCG (p.Ala158Arg)
n.783_784delinsCG
c.523_524delinsCG (p.Ala175Arg)
c.157_158delinsCG (p.Ala53Arg)
n.843_844delinsCG
n.622_623delinsCG
21g.43065675C>ACA410601478CBSc.472G>T (p.Ala158Ser)
n.783G>T
c.523G>T (p.Ala175Ser)
c.157G>T (p.Ala53Ser)
n.843G>T
n.622G>T
21g.43065675C>GCA410601479CBSc.472G>C (p.Ala158Pro)
n.783G>C
c.523G>C (p.Ala175Pro)
c.157G>C (p.Ala53Pro)
n.843G>C
n.622G>C
21g.43065675C>TCA410601481CBSc.472G>A (p.Ala158Thr)
n.783G>A
c.523G>A (p.Ala175Thr)
c.157G>A (p.Ala53Thr)
n.843G>A
n.622G>A
 ClinVar
21g.43065676A>GCA2579813193CBSc.471T>C (p.Ala157=)
n.782T>C
c.522T>C (p.Ala174=)
c.156T>C (p.Ala52=)
n.842T>C
n.621T>C
21g.43065676_43065677delinsCACA2579813177CBSc.470_471delinsTG (p.Ala157Val)
n.781_782delinsTG
c.521_522delinsTG (p.Ala174Val)
c.155_156delinsTG (p.Ala52Val)
n.841_842delinsTG
n.620_621delinsTG
21g.43065676_43065677delinsCCCA2579813188CBSc.470_471delinsGG (p.Ala157Gly)
n.781_782delinsGG
c.521_522delinsGG (p.Ala174Gly)
c.155_156delinsGG (p.Ala52Gly)
n.841_842delinsGG
n.620_621delinsGG
21g.43065676_43065677delinsCTCA2579813189CBSc.470_471delinsAG (p.Ala157Glu)
n.781_782delinsAG
c.521_522delinsAG (p.Ala174Glu)
c.155_156delinsAG (p.Ala52Glu)
n.841_842delinsAG
n.620_621delinsAG
21g.43065676_43065677delinsGACA2579813176CBSc.470_471delinsTC (p.Ala157Val)
n.781_782delinsTC
c.521_522delinsTC (p.Ala174Val)
c.155_156delinsTC (p.Ala52Val)
n.841_842delinsTC
n.620_621delinsTC
21g.43065676_43065678delinsCAACA2579813185CBSc.469_471delinsTTG (p.Ala157Leu)
n.780_782delinsTTG
c.520_522delinsTTG (p.Ala174Leu)
c.154_156delinsTTG (p.Ala52Leu)
n.840_842delinsTTG
n.619_621delinsTTG
21g.43065676_43065678delinsCATCA2579813183CBSc.469_471delinsATG (p.Ala157Met)
n.780_782delinsATG
c.520_522delinsATG (p.Ala174Met)
c.154_156delinsATG (p.Ala52Met)
n.840_842delinsATG
n.619_621delinsATG
21g.43065676_43065678delinsCCGCA2579813190CBSc.469_471delinsCGG (p.Ala157Arg)
n.780_782delinsCGG
c.520_522delinsCGG (p.Ala174Arg)
c.154_156delinsCGG (p.Ala52Arg)
n.840_842delinsCGG
n.619_621delinsCGG
21g.43065676_43065678delinsCTTCA2579813184CBSc.469_471delinsAAG (p.Ala157Lys)
n.780_782delinsAAG
c.520_522delinsAAG (p.Ala174Lys)
c.154_156delinsAAG (p.Ala52Lys)
n.840_842delinsAAG
n.619_621delinsAAG
21g.43065676_43065678delinsGGACA2579813180CBSc.469_471delinsTCC (p.Ala157Ser)
n.780_782delinsTCC
c.520_522delinsTCC (p.Ala174Ser)
c.154_156delinsTCC (p.Ala52Ser)
n.840_842delinsTCC
n.619_621delinsTCC
21g.43065676_43065678delinsGGGCA2579813181CBSc.469_471delinsCCC (p.Ala157Pro)
n.780_782delinsCCC
c.520_522delinsCCC (p.Ala174Pro)
c.154_156delinsCCC (p.Ala52Pro)
n.840_842delinsCCC
n.619_621delinsCCC
21g.43065676_43065678delinsGGTCA2579813179CBSc.469_471delinsACC (p.Ala157Thr)
n.780_782delinsACC
c.520_522delinsACC (p.Ala174Thr)
c.154_156delinsACC (p.Ala52Thr)
n.840_842delinsACC
n.619_621delinsACC
21g.43065676_43065678delinsTGGCA2579813934CBSc.469_471delinsCCA (p.Ala157Pro)
n.780_782delinsCCA
c.520_522delinsCCA (p.Ala174Pro)
c.154_156delinsCCA (p.Ala52Pro)
n.840_842delinsCCA
n.619_621delinsCCA
21g.43065677delCA2654728359CBSc.470del (p.Ala157ValfsTer4)
n.781del
c.521del (p.Ala174ValfsTer4)
c.155del (p.Ala52ValfsTer4)
n.841del
n.620del
 gnomAD v4
21g.43065677G>ACA410601483CBSc.470C>T (p.Ala157Val)
n.781C>T
c.521C>T (p.Ala174Val)
c.155C>T (p.Ala52Val)
n.841C>T
n.620C>T
21g.43065677G>CCA410601484CBSc.470C>G (p.Ala157Gly)
n.781C>G
c.521C>G (p.Ala174Gly)
c.155C>G (p.Ala52Gly)
n.841C>G
n.620C>G
21g.43065677G>TCA410601486CBSc.470C>A (p.Ala157Asp)
n.781C>A
c.521C>A (p.Ala174Asp)
c.155C>A (p.Ala52Asp)
n.841C>A
n.620C>A
21g.43065677_43065678delinsAACA2579813182CBSc.469_470delinsTT (p.Ala157Phe)
n.780_781delinsTT
c.520_521delinsTT (p.Ala174Phe)
c.154_155delinsTT (p.Ala52Phe)
n.840_841delinsTT
n.619_620delinsTT
21g.43065677_43065678delinsAGCA2579813187CBSc.469_470delinsCT (p.Ala157Leu)
n.780_781delinsCT
c.520_521delinsCT (p.Ala174Leu)
c.154_155delinsCT (p.Ala52Leu)
n.840_841delinsCT
n.619_620delinsCT
21g.43065677_43065678delinsATCA2579813186CBSc.469_470delinsAT (p.Ala157Ile)
n.780_781delinsAT
c.520_521delinsAT (p.Ala174Ile)
c.154_155delinsAT (p.Ala52Ile)
n.840_841delinsAT
n.619_620delinsAT
21g.43065677_43065678delinsCACA2579813191CBSc.469_470delinsTG (p.Ala157Cys)
n.780_781delinsTG
c.520_521delinsTG (p.Ala174Cys)
c.154_155delinsTG (p.Ala52Cys)
n.840_841delinsTG
n.619_620delinsTG
21g.43065677_43065678delinsCGCA2579813192CBSc.469_470delinsCG (p.Ala157Arg)
n.780_781delinsCG
c.520_521delinsCG (p.Ala174Arg)
c.154_155delinsCG (p.Ala52Arg)
n.840_841delinsCG
n.619_620delinsCG
21g.43065677_43065678delinsCTCA2579813933CBSc.469_470delinsAG (p.Ala157Ser)
n.780_781delinsAG
c.520_521delinsAG (p.Ala174Ser)
c.154_155delinsAG (p.Ala52Ser)
n.840_841delinsAG
n.619_620delinsAG
21g.43065677_43065678delinsTACA2579813178CBSc.469_470delinsTA (p.Ala157Tyr)
n.780_781delinsTA
c.520_521delinsTA (p.Ala174Tyr)
c.154_155delinsTA (p.Ala52Tyr)
n.840_841delinsTA
n.619_620delinsTA
21g.43065678C>ACA410601488CBSc.469G>T (p.Ala157Ser)
n.780G>T
c.520G>T (p.Ala174Ser)
c.154G>T (p.Ala52Ser)
n.840G>T
n.619G>T
21g.43065678C=CA2391103883CBSc.469G= (p.Ala157=)
n.780G=
c.520G= (p.Ala174=)
c.154G= (p.Ala52=)
n.840G=
n.619G=
21g.43065678C>GCA410601489CBSc.469G>C (p.Ala157Pro)
n.780G>C
c.520G>C (p.Ala174Pro)
c.154G>C (p.Ala52Pro)
n.840G>C
n.619G>C
21g.43065678C>TCA10587952CBSc.469G>A (p.Ala157Thr)
n.780G>A
c.520G>A (p.Ala174Thr)
c.154G>A (p.Ala52Thr)
n.840G>A
n.619G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065679C>ACA2579807879CBSc.468G>T (p.Leu156=)
n.779G>T
c.519G>T (p.Leu173=)
c.153G>T (p.Leu51=)
n.839G>T
n.618G>T
21g.43065679C>TCA2654728360CBSc.468G>A (p.Leu156=)
n.779G>A
c.519G>A (p.Leu173=)
c.153G>A (p.Leu51=)
n.839G>A
n.618G>A
 gnomAD v4
21g.43065679_43065680delinsATCA2579807877CBSc.467_468delinsAT (p.Leu156His)
n.778_779delinsAT
c.518_519delinsAT (p.Leu173His)
c.152_153delinsAT (p.Leu51His)
n.838_839delinsAT
n.617_618delinsAT
21g.43065679_43065680delinsCACA2391103884CBSc.467_468delinsTG (p.Leu156=)
n.778_779delinsTG
c.518_519delinsTG (p.Leu173=)
c.152_153delinsTG (p.Leu51=)
n.838_839delinsTG
n.617_618delinsTG
21g.43065679_43065680delinsTGCA2579807873CBSc.467_468delinsCA (p.Leu156Pro)
n.778_779delinsCA
c.518_519delinsCA (p.Leu173Pro)
c.152_153delinsCA (p.Leu51Pro)
n.838_839delinsCA
n.617_618delinsCA
21g.43065679_43065681delinsAAACA2579807875CBSc.466_468delinsTTT (p.Leu156Phe)
n.777_779delinsTTT
c.517_519delinsTTT (p.Leu173Phe)
c.151_153delinsTTT (p.Leu51Phe)
n.837_839delinsTTT
n.616_618delinsTTT
21g.43065679_43065681delinsAATCA2579807876CBSc.466_468delinsATT (p.Leu156Ile)
n.777_779delinsATT
c.517_519delinsATT (p.Leu173Ile)
c.151_153delinsATT (p.Leu51Ile)
n.837_839delinsATT
n.616_618delinsATT
21g.43065679_43065681delinsACCCA2579807878CBSc.466_468delinsGGT (p.Leu156Gly)
n.777_779delinsGGT
c.517_519delinsGGT (p.Leu173Gly)
c.151_153delinsGGT (p.Leu51Gly)
n.837_839delinsGGT
n.616_618delinsGGT
21g.43065679_43065681delinsACTCA2579807872CBSc.466_468delinsAGT (p.Leu156Ser)
n.777_779delinsAGT
c.517_519delinsAGT (p.Leu173Ser)
c.151_153delinsAGT (p.Leu51Ser)
n.837_839delinsAGT
n.616_618delinsAGT
21g.43065679_43065681delinsAGACA2579807871CBSc.466_468delinsTCT (p.Leu156Ser)
n.777_779delinsTCT
c.517_519delinsTCT (p.Leu173Ser)
c.151_153delinsTCT (p.Leu51Ser)
n.837_839delinsTCT
n.616_618delinsTCT
21g.43065679_43065681delinsATACA2579807869CBSc.466_468delinsTAT (p.Leu156Tyr)
n.777_779delinsTAT
c.517_519delinsTAT (p.Leu173Tyr)
c.151_153delinsTAT (p.Leu51Tyr)
n.837_839delinsTAT
n.616_618delinsTAT
21g.43065679_43065681delinsTAACA2579807880CBSc.466_468delinsTTA (p.Leu156=)
n.777_779delinsTTA
c.517_519delinsTTA (p.Leu173=)
c.151_153delinsTTA (p.Leu51=)
n.837_839delinsTTA
n.616_618delinsTTA
21g.43065679_43065681delinsTATCA2579807874CBSc.466_468delinsATA (p.Leu156Ile)
n.777_779delinsATA
c.517_519delinsATA (p.Leu173Ile)
c.151_153delinsATA (p.Leu51Ile)
n.837_839delinsATA
n.616_618delinsATA
21g.43065680delCA16042004CBSc.467del (p.Leu156ArgfsTer5)
n.778del
c.518del (p.Leu173ArgfsTer5)
c.152del (p.Leu51ArgfsTer5)
n.838del
n.617del
 ClinVar dbSNP
21g.43065680A=CA2391103885CBSc.467T= (p.Leu156=)
n.778T=
c.518T= (p.Leu173=)
c.152T= (p.Leu51=)
n.838T=
n.617T=
21g.43065680A>CCA410601493CBSc.467T>G (p.Leu156Arg)
n.778T>G
c.518T>G (p.Leu173Arg)
c.152T>G (p.Leu51Arg)
n.838T>G
n.617T>G
21g.43065680A>GCA321096729CBSc.467T>C (p.Leu156Pro)
n.778T>C
c.518T>C (p.Leu173Pro)
c.152T>C (p.Leu51Pro)
n.838T>C
n.617T>C
 dbSNP
21g.43065680A>TCA410601491CBSc.467T>A (p.Leu156Gln)
n.778T>A
c.518T>A (p.Leu173Gln)
c.152T>A (p.Leu51Gln)
n.838T>A
n.617T>A
21g.43065680_43065681delinsCACA2579813616CBSc.466_467delinsTG (p.Leu156Trp)
n.777_778delinsTG
c.517_518delinsTG (p.Leu173Trp)
c.151_152delinsTG (p.Leu51Trp)
n.837_838delinsTG
n.616_617delinsTG
21g.43065680_43065681delinsTACA2579807870CBSc.466_467delinsTA (p.Leu156Ter)
n.777_778delinsTA
c.517_518delinsTA (p.Leu173Ter)
c.151_152delinsTA (p.Leu51Ter)
n.837_838delinsTA
n.616_617delinsTA
21g.43065681G>CCA410601495CBSc.466C>G (p.Leu156Val)
n.777C>G
c.517C>G (p.Leu173Val)
c.151C>G (p.Leu51Val)
n.837C>G
n.616C>G
21g.43065681G>TCA410601496CBSc.466C>A (p.Leu156Met)
n.777C>A
c.517C>A (p.Leu173Met)
c.151C>A (p.Leu51Met)
n.837C>A
n.616C>A
21g.43065682G>ACA2573157485CBSc.465C>T (p.Ala155=)
n.776C>T
c.516C>T (p.Ala172=)
c.150C>T (p.Ala50=)
n.836C>T
n.615C>T
 ClinVar dbSNP
21g.43065682G=CA2391103886CBSc.465C= (p.Ala155=)
n.776C=
c.516C= (p.Ala172=)
c.150C= (p.Ala50=)
n.836C=
n.615C=
21g.43065682G>TCA321096740CBSc.465C>A (p.Ala155=)
n.776C>A
c.516C>A (p.Ala172=)
c.150C>A (p.Ala50=)
n.836C>A
n.615C>A
 ClinVar dbSNP
21g.43065682_43065683delinsACCA2579813207CBSc.464_465delinsGT (p.Ala155Gly)
n.775_776delinsGT
c.515_516delinsGT (p.Ala172Gly)
c.149_150delinsGT (p.Ala50Gly)
n.835_836delinsGT
n.614_615delinsGT
21g.43065682_43065683delinsATCA2579813213CBSc.464_465delinsAT (p.Ala155Asp)
n.775_776delinsAT
c.515_516delinsAT (p.Ala172Asp)
c.149_150delinsAT (p.Ala50Asp)
n.835_836delinsAT
n.614_615delinsAT
21g.43065682_43065683delinsCACA2579813195CBSc.464_465delinsTG (p.Ala155Val)
n.775_776delinsTG
c.515_516delinsTG (p.Ala172Val)
c.149_150delinsTG (p.Ala50Val)
n.835_836delinsTG
n.614_615delinsTG
21g.43065682_43065683delinsCCCA2579813208CBSc.464_465delinsGG (p.Ala155Gly)
n.775_776delinsGG
c.515_516delinsGG (p.Ala172Gly)
c.149_150delinsGG (p.Ala50Gly)
n.835_836delinsGG
n.614_615delinsGG
21g.43065682_43065683delinsCTCA2579813209CBSc.464_465delinsAG (p.Ala155Glu)
n.775_776delinsAG
c.515_516delinsAG (p.Ala172Glu)
c.149_150delinsAG (p.Ala50Glu)
n.835_836delinsAG
n.614_615delinsAG
21g.43065682_43065684delinsAATCA2579813205CBSc.463_465delinsATT (p.Ala155Ile)
n.774_776delinsATT
c.514_516delinsATT (p.Ala172Ile)
c.148_150delinsATT (p.Ala50Ile)
n.834_836delinsATT
n.613_615delinsATT
21g.43065682_43065684delinsACACA2579813210CBSc.463_465delinsTGT (p.Ala155Cys)
n.774_776delinsTGT
c.514_516delinsTGT (p.Ala172Cys)
c.148_150delinsTGT (p.Ala50Cys)
n.834_836delinsTGT
n.613_615delinsTGT
21g.43065682_43065684delinsACGCA2579813214CBSc.463_465delinsCGT (p.Ala155Arg)
n.774_776delinsCGT
c.514_516delinsCGT (p.Ala172Arg)
c.148_150delinsCGT (p.Ala50Arg)
n.834_836delinsCGT
n.613_615delinsCGT
21g.43065682_43065684delinsACTCA2579813199CBSc.463_465delinsAGT (p.Ala155Ser)
n.774_776delinsAGT
c.514_516delinsAGT (p.Ala172Ser)
c.148_150delinsAGT (p.Ala50Ser)
n.834_836delinsAGT
n.613_615delinsAGT
21g.43065682_43065684delinsAGACA2579813200CBSc.463_465delinsTCT (p.Ala155Ser)
n.774_776delinsTCT
c.514_516delinsTCT (p.Ala172Ser)
c.148_150delinsTCT (p.Ala50Ser)
n.834_836delinsTCT
n.613_615delinsTCT
21g.43065682_43065684delinsAGTCA2579813197CBSc.463_465delinsACT (p.Ala155Thr)
n.774_776delinsACT
c.514_516delinsACT (p.Ala172Thr)
c.148_150delinsACT (p.Ala50Thr)
n.834_836delinsACT
n.613_615delinsACT
21g.43065682_43065684delinsATTCA2579813211CBSc.463_465delinsAAT (p.Ala155Asn)
n.774_776delinsAAT
c.514_516delinsAAT (p.Ala172Asn)
c.148_150delinsAAT (p.Ala50Asn)
n.834_836delinsAAT
n.613_615delinsAAT
21g.43065682_43065684delinsCAACA2579813204CBSc.463_465delinsTTG (p.Ala155Leu)
n.774_776delinsTTG
c.514_516delinsTTG (p.Ala172Leu)
c.148_150delinsTTG (p.Ala50Leu)
n.834_836delinsTTG
n.613_615delinsTTG
21g.43065682_43065684delinsCATCA2579813202CBSc.463_465delinsATG (p.Ala155Met)
n.774_776delinsATG
c.514_516delinsATG (p.Ala172Met)
c.148_150delinsATG (p.Ala50Met)
n.834_836delinsATG
n.613_615delinsATG
21g.43065682_43065684delinsCCACA2579813194CBSc.463_465delinsTGG (p.Ala155Trp)
n.774_776delinsTGG
c.514_516delinsTGG (p.Ala172Trp)
c.148_150delinsTGG (p.Ala50Trp)
n.834_836delinsTGG
n.613_615delinsTGG
21g.43065682_43065684delinsCCGCA2579813215CBSc.463_465delinsCGG (p.Ala155Arg)
n.774_776delinsCGG
c.514_516delinsCGG (p.Ala172Arg)
c.148_150delinsCGG (p.Ala50Arg)
n.834_836delinsCGG
n.613_615delinsCGG
21g.43065682_43065684delinsCCTCA2579813212CBSc.463_465delinsAGG (p.Ala155Arg)
n.774_776delinsAGG
c.514_516delinsAGG (p.Ala172Arg)
c.148_150delinsAGG (p.Ala50Arg)
n.834_836delinsAGG
n.613_615delinsAGG
21g.43065682_43065684delinsCGGCA2579813936CBSc.463_465delinsCCG (p.Ala155Pro)
n.774_776delinsCCG
c.514_516delinsCCG (p.Ala172Pro)
c.148_150delinsCCG (p.Ala50Pro)
n.834_836delinsCCG
n.613_615delinsCCG
21g.43065682_43065684delinsCGTCA2579813196CBSc.463_465delinsACG (p.Ala155Thr)
n.774_776delinsACG
c.514_516delinsACG (p.Ala172Thr)
c.148_150delinsACG (p.Ala50Thr)
n.834_836delinsACG
n.613_615delinsACG
21g.43065682_43065684delinsCTTCA2579813203CBSc.463_465delinsAAG (p.Ala155Lys)
n.774_776delinsAAG
c.514_516delinsAAG (p.Ala172Lys)
c.148_150delinsAAG (p.Ala50Lys)
n.834_836delinsAAG
n.613_615delinsAAG
21g.43065682_43065684delinsTTACA2579813935CBSc.463_465delinsTAA (p.Ala155Ter)
n.774_776delinsTAA
c.514_516delinsTAA (p.Ala172Ter)
c.148_150delinsTAA (p.Ala50Ter)
n.834_836delinsTAA
n.613_615delinsTAA
21g.43065683G>ACA410601498CBSc.464C>T (p.Ala155Val)
n.775C>T
c.515C>T (p.Ala172Val)
c.149C>T (p.Ala50Val)
n.835C>T
n.614C>T
21g.43065683G>CCA410601500CBSc.464C>G (p.Ala155Gly)
n.775C>G
c.515C>G (p.Ala172Gly)
c.149C>G (p.Ala50Gly)
n.835C>G
n.614C>G
21g.43065683G>TCA410601502CBSc.464C>A (p.Ala155Asp)
n.775C>A
c.515C>A (p.Ala172Asp)
c.149C>A (p.Ala50Asp)
n.835C>A
n.614C>A
21g.43065683_43065684delinsAACA2579813201CBSc.463_464delinsTT (p.Ala155Phe)
n.774_775delinsTT
c.514_515delinsTT (p.Ala172Phe)
c.148_149delinsTT (p.Ala50Phe)
n.834_835delinsTT
n.613_614delinsTT
21g.43065683_43065684delinsATCA2579813206CBSc.463_464delinsAT (p.Ala155Ile)
n.774_775delinsAT
c.514_515delinsAT (p.Ala172Ile)
c.148_149delinsAT (p.Ala50Ile)
n.834_835delinsAT
n.613_614delinsAT
21g.43065683_43065684delinsCTCA2579813198CBSc.463_464delinsAG (p.Ala155Ser)
n.774_775delinsAG
c.514_515delinsAG (p.Ala172Ser)
c.148_149delinsAG (p.Ala50Ser)
n.834_835delinsAG
n.613_614delinsAG
21g.43065684C>ACA410601507CBSc.463G>T (p.Ala155Ser)
n.774G>T
c.514G>T (p.Ala172Ser)
c.148G>T (p.Ala50Ser)
n.834G>T
n.613G>T
21g.43065684C=CA2391103887CBSc.463G= (p.Ala155=)
n.774G=
c.514G= (p.Ala172=)
c.148G= (p.Ala50=)
n.834G=
n.613G=
21g.43065684C>GCA410601504CBSc.463G>C (p.Ala155Pro)
n.774G>C
c.514G>C (p.Ala172Pro)
c.148G>C (p.Ala50Pro)
n.834G>C
n.613G>C
21g.43065684C>TCA410601506CBSc.463G>A (p.Ala155Thr)
n.774G>A
c.514G>A (p.Ala172Thr)
c.148G>A (p.Ala50Thr)
n.834G>A
n.613G>A
 ClinVar dbSNP gnomAD v4
21g.43065685_43065686delinsACCA2579807892CBSc.461_462delinsGT (p.Leu154Arg)
n.772_773delinsGT
c.512_513delinsGT (p.Leu171Arg)
c.146_147delinsGT (p.Leu49Arg)
n.832_833delinsGT
n.611_612delinsGT
21g.43065685_43065686delinsAGCA2579807886CBSc.461_462delinsCT (p.Leu154Pro)
n.772_773delinsCT
c.512_513delinsCT (p.Leu171Pro)
c.146_147delinsCT (p.Leu49Pro)
n.832_833delinsCT
n.611_612delinsCT
21g.43065685_43065687delinsAAACA2579807887CBSc.460_462delinsTTT (p.Leu154Phe)
n.771_773delinsTTT
c.511_513delinsTTT (p.Leu171Phe)
c.145_147delinsTTT (p.Leu49Phe)
n.831_833delinsTTT
n.610_612delinsTTT
21g.43065685_43065687delinsAACCA2579807882CBSc.460_462delinsGTT (p.Leu154Val)
n.771_773delinsGTT
c.511_513delinsGTT (p.Leu171Val)
c.145_147delinsGTT (p.Leu49Val)
n.831_833delinsGTT
n.610_612delinsGTT
21g.43065685_43065687delinsAATCA2579807889CBSc.460_462delinsATT (p.Leu154Ile)
n.771_773delinsATT
c.511_513delinsATT (p.Leu171Ile)
c.145_147delinsATT (p.Leu49Ile)
n.831_833delinsATT
n.610_612delinsATT
21g.43065685_43065687delinsACCCA2579807888CBSc.460_462delinsGGT (p.Leu154Gly)
n.771_773delinsGGT
c.511_513delinsGGT (p.Leu171Gly)
c.145_147delinsGGT (p.Leu49Gly)
n.831_833delinsGGT
n.610_612delinsGGT
21g.43065685_43065687delinsACTCA2579807884CBSc.460_462delinsAGT (p.Leu154Ser)
n.771_773delinsAGT
c.511_513delinsAGT (p.Leu171Ser)
c.145_147delinsAGT (p.Leu49Ser)
n.831_833delinsAGT
n.610_612delinsAGT
21g.43065685_43065687delinsAGCCA2579813618CBSc.460_462delinsGCT (p.Leu154Ala)
n.771_773delinsGCT
c.511_513delinsGCT (p.Leu171Ala)
c.145_147delinsGCT (p.Leu49Ala)
n.831_833delinsGCT
n.610_612delinsGCT
21g.43065685_43065687delinsATTCA2579807891CBSc.460_462delinsAAT (p.Leu154Asn)
n.771_773delinsAAT
c.511_513delinsAAT (p.Leu171Asn)
c.145_147delinsAAT (p.Leu49Asn)
n.831_833delinsAAT
n.610_612delinsAAT
21g.43065685_43065687delinsTAACA2579807893CBSc.460_462delinsTTA (p.Leu154=)
n.771_773delinsTTA
c.511_513delinsTTA (p.Leu171=)
c.145_147delinsTTA (p.Leu49=)
n.831_833delinsTTA
n.610_612delinsTTA
21g.43065686A>CCA410601508CBSc.461T>G (p.Leu154Arg)
n.772T>G
c.512T>G (p.Leu171Arg)
c.146T>G (p.Leu49Arg)
n.832T>G
n.611T>G
21g.43065686A>GCA410601510CBSc.461T>C (p.Leu154Pro)
n.772T>C
c.512T>C (p.Leu171Pro)
c.146T>C (p.Leu49Pro)
n.832T>C
n.611T>C
21g.43065686A>TCA410601512CBSc.461T>A (p.Leu154Gln)
n.772T>A
c.512T>A (p.Leu171Gln)
c.146T>A (p.Leu49Gln)
n.832T>A
n.611T>A
21g.43065686_43065687delinsCACA2579807883CBSc.460_461delinsTG (p.Leu154Trp)
n.771_772delinsTG
c.511_512delinsTG (p.Leu171Trp)
c.145_146delinsTG (p.Leu49Trp)
n.831_832delinsTG
n.610_611delinsTG
21g.43065686_43065687delinsCTCA2579807894CBSc.460_461delinsAG (p.Leu154Arg)
n.771_772delinsAG
c.511_512delinsAG (p.Leu171Arg)
c.145_146delinsAG (p.Leu49Arg)
n.831_832delinsAG
n.610_611delinsAG
21g.43065686_43065687delinsGACA2579807885CBSc.460_461delinsTC (p.Leu154Ser)
n.771_772delinsTC
c.511_512delinsTC (p.Leu171Ser)
c.145_146delinsTC (p.Leu49Ser)
n.831_832delinsTC
n.610_611delinsTC
21g.43065686_43065687delinsGTCA2579807881CBSc.460_461delinsAC (p.Leu154Thr)
n.771_772delinsAC
c.511_512delinsAC (p.Leu171Thr)
c.145_146delinsAC (p.Leu49Thr)
n.831_832delinsAC
n.610_611delinsAC
21g.43065686_43065687delinsTACA2579813617CBSc.460_461delinsTA (p.Leu154Ter)
n.771_772delinsTA
c.511_512delinsTA (p.Leu171Ter)
c.145_146delinsTA (p.Leu49Ter)
n.831_832delinsTA
n.610_611delinsTA
21g.43065686_43065687delinsTCCA2579807890CBSc.460_461delinsGA (p.Leu154Glu)
n.771_772delinsGA
c.511_512delinsGA (p.Leu171Glu)
c.145_146delinsGA (p.Leu49Glu)
n.831_832delinsGA
n.610_611delinsGA
21g.43065687G>ACA2579807895CBSc.460C>T (p.Leu154=)
n.771C>T
c.511C>T (p.Leu171=)
c.145C>T (p.Leu49=)
n.831C>T
n.610C>T
21g.43065687G>CCA410601513CBSc.460C>G (p.Leu154Val)
n.771C>G
c.511C>G (p.Leu171Val)
c.145C>G (p.Leu49Val)
n.831C>G
n.610C>G
21g.43065687G>TCA410601515CBSc.460C>A (p.Leu154Met)
n.771C>A
c.511C>A (p.Leu171Met)
c.145C>A (p.Leu49Met)
n.831C>A
n.610C>A
21g.43065688C>ACA749580069CBSc.459G>T (p.Gly153=)
n.770G>T
c.510G>T (p.Gly170=)
c.144G>T (p.Gly48=)
n.830G>T
n.609G>T
 dbSNP
21g.43065688C=CA2391103888CBSc.459G= (p.Gly153=)
n.770G=
c.510G= (p.Gly170=)
c.144G= (p.Gly48=)
n.830G=
n.609G=
21g.43065688C>TCA2579809639CBSc.459G>A (p.Gly153=)
n.770G>A
c.510G>A (p.Gly170=)
c.144G>A (p.Gly48=)
n.830G>A
n.609G>A
21g.43065688_43065689delinsAGCA2579809638CBSc.458_459delinsCT (p.Gly153Ala)
n.769_770delinsCT
c.509_510delinsCT (p.Gly170Ala)
c.143_144delinsCT (p.Gly48Ala)
n.829_830delinsCT
n.608_609delinsCT
21g.43065688_43065689delinsTGCA2579809640CBSc.458_459delinsCA (p.Gly153Ala)
n.769_770delinsCA
c.509_510delinsCA (p.Gly170Ala)
c.143_144delinsCA (p.Gly48Ala)
n.829_830delinsCA
n.608_609delinsCA
21g.43065688_43065690delinsAAACA2579809595CBSc.457_459delinsTTT (p.Gly153Phe)
n.768_770delinsTTT
c.508_510delinsTTT (p.Gly170Phe)
c.142_144delinsTTT (p.Gly48Phe)
n.828_830delinsTTT
n.607_609delinsTTT
21g.43065688_43065690delinsACACA2579809635CBSc.457_459delinsTGT (p.Gly153Cys)
n.768_770delinsTGT
c.508_510delinsTGT (p.Gly170Cys)
c.142_144delinsTGT (p.Gly48Cys)
n.828_830delinsTGT
n.607_609delinsTGT
21g.43065688_43065690delinsACGCA2579809637CBSc.457_459delinsCGT (p.Gly153Arg)
n.768_770delinsCGT
c.508_510delinsCGT (p.Gly170Arg)
c.142_144delinsCGT (p.Gly48Arg)
n.828_830delinsCGT
n.607_609delinsCGT
21g.43065688_43065690delinsAGTCA2579809592CBSc.457_459delinsACT (p.Gly153Thr)
n.768_770delinsACT
c.508_510delinsACT (p.Gly170Thr)
c.142_144delinsACT (p.Gly48Thr)
n.828_830delinsACT
n.607_609delinsACT
21g.43065688_43065690delinsTCTCA2579809636CBSc.457_459delinsAGA (p.Gly153Arg)
n.768_770delinsAGA
c.508_510delinsAGA (p.Gly170Arg)
c.142_144delinsAGA (p.Gly48Arg)
n.828_830delinsAGA
n.607_609delinsAGA
21g.43065689C>ACA410601517CBSc.458G>T (p.Gly153Val)
n.769G>T
c.509G>T (p.Gly170Val)
c.143G>T (p.Gly48Val)
n.829G>T
n.608G>T
21g.43065689C>GCA410601520CBSc.458G>C (p.Gly153Ala)
n.769G>C
c.509G>C (p.Gly170Ala)
c.143G>C (p.Gly48Ala)
n.829G>C
n.608G>C
21g.43065689C>TCA410601519CBSc.458G>A (p.Gly153Glu)
n.769G>A
c.509G>A (p.Gly170Glu)
c.143G>A (p.Gly48Glu)
n.829G>A
n.608G>A
21g.43065689_43065690delinsAACA2579809633CBSc.457_458delinsTT (p.Gly153Leu)
n.768_769delinsTT
c.508_509delinsTT (p.Gly170Leu)
c.142_143delinsTT (p.Gly48Leu)
n.828_829delinsTT
n.607_608delinsTT
21g.43065689_43065690delinsAGCA2579809634CBSc.457_458delinsCT (p.Gly153Leu)
n.768_769delinsCT
c.508_509delinsCT (p.Gly170Leu)
c.142_143delinsCT (p.Gly48Leu)
n.828_829delinsCT
n.607_608delinsCT
21g.43065689_43065690delinsATCA2579809594CBSc.457_458delinsAT (p.Gly153Met)
n.768_769delinsAT
c.508_509delinsAT (p.Gly170Met)
c.142_143delinsAT (p.Gly48Met)
n.828_829delinsAT
n.607_608delinsAT
21g.43065689_43065690delinsGACA2579809593CBSc.457_458delinsTC (p.Gly153Ser)
n.768_769delinsTC
c.508_509delinsTC (p.Gly170Ser)
c.142_143delinsTC (p.Gly48Ser)
n.828_829delinsTC
n.607_608delinsTC
21g.43065690C>ACA410601522CBSc.457G>T (p.Gly153Trp)
n.768G>T
c.508G>T (p.Gly170Trp)
c.142G>T (p.Gly48Trp)
n.828G>T
n.607G>T
21g.43065690C=CA2391103889CBSc.457G= (p.Gly153=)
n.768G=
c.508G= (p.Gly170=)
c.142G= (p.Gly48=)
n.828G=
n.607G=
21g.43065690C>GCA410601523CBSc.457G>C (p.Gly153Arg)
n.768G>C
c.508G>C (p.Gly170Arg)
c.142G>C (p.Gly48Arg)
n.828G>C
n.607G>C
21g.43065690C>TCA320011CBSc.457G>A (p.Gly153Arg)
n.768G>A
c.508G>A (p.Gly170Arg)
c.142G>A (p.Gly48Arg)
n.828G>A
n.607G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
21g.43065691G>ACA16609066CBSc.456C>T (p.Ile152=)
n.767C>T
c.507C>T (p.Ile169=)
c.141C>T (p.Ile47=)
n.827C>T
n.606C>T
 ClinVar dbSNP gnomAD v4
21g.43065691G>CCA410601527CBSc.456C>G (p.Ile152Met)
n.767C>G
c.507C>G (p.Ile169Met)
c.141C>G (p.Ile47Met)
n.827C>G
n.606C>G
 ClinVar gnomAD v4
21g.43065691G=CA2391103890CBSc.456C= (p.Ile152=)
n.767C=
c.507C= (p.Ile169=)
c.141C= (p.Ile47=)
n.827C=
n.606C=
21g.43065691_43065692delinsACCA2579808546CBSc.455_456delinsGT (p.Ile152Ser)
n.766_767delinsGT
c.506_507delinsGT (p.Ile169Ser)
c.140_141delinsGT (p.Ile47Ser)
n.826_827delinsGT
n.605_606delinsGT
21g.43065691_43065692delinsAGCA2579808544CBSc.455_456delinsCT (p.Ile152Thr)
n.766_767delinsCT
c.506_507delinsCT (p.Ile169Thr)
c.140_141delinsCT (p.Ile47Thr)
n.826_827delinsCT
n.605_606delinsCT
21g.43065691_43065692delinsATCA2579808554CBSc.455_456delinsAT (p.Ile152Asn)
n.766_767delinsAT
c.506_507delinsAT (p.Ile169Asn)
c.140_141delinsAT (p.Ile47Asn)
n.826_827delinsAT
n.605_606delinsAT
21g.43065691_43065692delinsCCCA2579808555CBSc.455_456delinsGG (p.Ile152Arg)
n.766_767delinsGG
c.506_507delinsGG (p.Ile169Arg)
c.140_141delinsGG (p.Ile47Arg)
n.826_827delinsGG
n.605_606delinsGG
21g.43065691_43065693delinsAAACA2579808547CBSc.454_456delinsTTT (p.Ile152Phe)
n.765_767delinsTTT
c.505_507delinsTTT (p.Ile169Phe)
c.139_141delinsTTT (p.Ile47Phe)
n.825_827delinsTTT
n.604_606delinsTTT
21g.43065691_43065693delinsAACCA2579808543CBSc.454_456delinsGTT (p.Ile152Val)
n.765_767delinsGTT
c.505_507delinsGTT (p.Ile169Val)
c.139_141delinsGTT (p.Ile47Val)
n.825_827delinsGTT
n.604_606delinsGTT
21g.43065691_43065693delinsACACA2579808553CBSc.454_456delinsTGT (p.Ile152Cys)
n.765_767delinsTGT
c.505_507delinsTGT (p.Ile169Cys)
c.139_141delinsTGT (p.Ile47Cys)
n.825_827delinsTGT
n.604_606delinsTGT
21g.43065691_43065693delinsACCCA2579808550CBSc.454_456delinsGGT (p.Ile152Gly)
n.765_767delinsGGT
c.505_507delinsGGT (p.Ile169Gly)
c.139_141delinsGGT (p.Ile47Gly)
n.825_827delinsGGT
n.604_606delinsGGT
21g.43065691_43065693delinsAGCCA2579808556CBSc.454_456delinsGCT (p.Ile152Ala)
n.765_767delinsGCT
c.505_507delinsGCT (p.Ile169Ala)
c.139_141delinsGCT (p.Ile47Ala)
n.825_827delinsGCT
n.604_606delinsGCT
21g.43065691_43065693delinsATCCA2579808552CBSc.454_456delinsGAT (p.Ile152Asp)
n.765_767delinsGAT
c.505_507delinsGAT (p.Ile169Asp)
c.139_141delinsGAT (p.Ile47Asp)
n.825_827delinsGAT
n.604_606delinsGAT
21g.43065691_43065693delinsCAACA2579808548CBSc.454_456delinsTTG (p.Ile152Leu)
n.765_767delinsTTG
c.505_507delinsTTG (p.Ile169Leu)
c.139_141delinsTTG (p.Ile47Leu)
n.825_827delinsTTG
n.604_606delinsTTG
21g.43065691_43065693delinsCACCA2579808541CBSc.454_456delinsGTG (p.Ile152Val)
n.765_767delinsGTG
c.505_507delinsGTG (p.Ile169Val)
c.139_141delinsGTG (p.Ile47Val)
n.825_827delinsGTG
n.604_606delinsGTG
21g.43065691_43065693delinsCCACA2579808545CBSc.454_456delinsTGG (p.Ile152Trp)
n.765_767delinsTGG
c.505_507delinsTGG (p.Ile169Trp)
c.139_141delinsTGG (p.Ile47Trp)
n.825_827delinsTGG
n.604_606delinsTGG
21g.43065691_43065693delinsCCCCA2579808549CBSc.454_456delinsGGG (p.Ile152Gly)
n.765_767delinsGGG
c.505_507delinsGGG (p.Ile169Gly)
c.139_141delinsGGG (p.Ile47Gly)
n.825_827delinsGGG
n.604_606delinsGGG
21g.43065691_43065693delinsCGCCA2579808557CBSc.454_456delinsGCG (p.Ile152Ala)
n.765_767delinsGCG
c.505_507delinsGCG (p.Ile169Ala)
c.139_141delinsGCG (p.Ile47Ala)
n.825_827delinsGCG
n.604_606delinsGCG
21g.43065691_43065693delinsCTCCA2579808551CBSc.454_456delinsGAG (p.Ile152Glu)
n.765_767delinsGAG
c.505_507delinsGAG (p.Ile169Glu)
c.139_141delinsGAG (p.Ile47Glu)
n.825_827delinsGAG
n.604_606delinsGAG
21g.43065692A>CCA410601528CBSc.455T>G (p.Ile152Ser)
n.766T>G
c.506T>G (p.Ile169Ser)
c.140T>G (p.Ile47Ser)
n.826T>G
n.605T>G
21g.43065692A>GCA410601529CBSc.455T>C (p.Ile152Thr)
n.766T>C
c.506T>C (p.Ile169Thr)
c.140T>C (p.Ile47Thr)
n.826T>C
n.605T>C
21g.43065692A>TCA410601530CBSc.455T>A (p.Ile152Asn)
n.766T>A
c.506T>A (p.Ile169Asn)
c.140T>A (p.Ile47Asn)
n.826T>A
n.605T>A
21g.43065693T>ACA410601533CBSc.454A>T (p.Ile152Phe)
n.765A>T
c.505A>T (p.Ile169Phe)
c.139A>T (p.Ile47Phe)
n.825A>T
n.604A>T
21g.43065693T>CCA410601534CBSc.454A>G (p.Ile152Val)
n.765A>G
c.505A>G (p.Ile169Val)
c.139A>G (p.Ile47Val)
n.825A>G
n.604A>G
21g.43065693T>GCA410601536CBSc.454A>C (p.Ile152Leu)
n.765A>C
c.505A>C (p.Ile169Leu)
c.139A>C (p.Ile47Leu)
n.825A>C
n.604A>C
21g.43065694C>ACA2579809648CBSc.453G>T (p.Gly151=)
n.764G>T
c.504G>T (p.Gly168=)
c.138G>T (p.Gly46=)
n.824G>T
n.603G>T
21g.43065694C>GCA2579809649CBSc.453G>C (p.Gly151=)
n.764G>C
c.504G>C (p.Gly168=)
c.138G>C (p.Gly46=)
n.824G>C
n.603G>C
21g.43065694C>TCA645604508CBSc.453G>A (p.Gly151=)
n.764G>A
c.504G>A (p.Gly168=)
c.138G>A (p.Gly46=)
n.824G>A
n.603G>A
 COSMIC COSMIC
21g.43065695C>ACA410601541CBSc.452G>T (p.Gly151Val)
n.763G>T
c.503G>T (p.Gly168Val)
c.137G>T (p.Gly46Val)
n.823G>T
n.602G>T
 ClinVar dbSNP
21g.43065695C>GCA410601539CBSc.452G>C (p.Gly151Ala)
n.763G>C
c.503G>C (p.Gly168Ala)
c.137G>C (p.Gly46Ala)
n.823G>C
n.602G>C
21g.43065695C>TCA410601538CBSc.452G>A (p.Gly151Glu)
n.763G>A
c.503G>A (p.Gly168Glu)
c.137G>A (p.Gly46Glu)
n.823G>A
n.602G>A
21g.43065696C>ACA410601543CBSc.452-1G>T (n.452-1G>T)
n.763-1G>T
c.503-1G>T (n.503-1G>T)
c.137-1G>T (n.137-1G>T)
n.823-1G>T
n.602-1G>T
21g.43065696C=CA2391103891CBSc.452-1G= (n.452-1G=)
n.763-1G=
c.503-1G= (n.503-1G=)
c.137-1G= (n.137-1G=)
n.823-1G=
n.602-1G=
21g.43065696C>GCA410601546CBSc.452-1G>C (n.452-1G>C)
n.763-1G>C
c.503-1G>C (n.503-1G>C)
c.137-1G>C (n.137-1G>C)
n.823-1G>C
n.602-1G>C
 gnomAD v4
21g.43065696C>TCA410601544CBSc.452-1G>A (n.452-1G>A)
n.763-1G>A
c.503-1G>A (n.503-1G>A)
c.137-1G>A (n.137-1G>A)
n.823-1G>A
n.602-1G>A
 ClinVar dbSNP
21g.43065697T>ACA410601548CBSc.452-2A>T (n.452-2A>T)
n.763-2A>T
c.503-2A>T (n.503-2A>T)
c.137-2A>T (n.137-2A>T)
n.823-2A>T
n.602-2A>T
21g.43065697T>CCA410601551CBSc.452-2A>G (n.452-2A>G)
n.763-2A>G
c.503-2A>G (n.503-2A>G)
c.137-2A>G (n.137-2A>G)
n.823-2A>G
n.602-2A>G
21g.43065697T>GCA410601550CBSc.452-2A>C (n.452-2A>C)
n.763-2A>C
c.503-2A>C (n.503-2A>C)
c.137-2A>C (n.137-2A>C)
n.823-2A>C
n.602-2A>C
 ClinVar
21g.43065699A>GCA2573157486CBSc.452-4T>C (n.452-4T>C)
n.763-4T>C
c.503-4T>C (n.503-4T>C)
c.137-4T>C (n.137-4T>C)
n.823-4T>C
n.602-4T>C
 ClinVar dbSNP
21g.43065701G>ACA749580076CBSc.452-6C>T (n.452-6C>T)
n.763-6C>T
c.503-6C>T (n.503-6C>T)
c.137-6C>T (n.137-6C>T)
n.823-6C>T
n.602-6C>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065701G=CA2391103892CBSc.452-6C= (n.452-6C=)
n.763-6C=
c.503-6C= (n.503-6C=)
c.137-6C= (n.137-6C=)
n.823-6C=
n.602-6C=
21g.43065702_43065704delinsGCACA2391103893CBSc.452-9_452-7delinsTGC (n.452-9_452-7delinsTGC)
n.763-9_763-7delinsTGC
c.503-9_503-7delinsTGC (n.503-9_503-7delinsTGC)
c.137-9_137-7delinsTGC (n.137-9_137-7delinsTGC)
n.823-9_823-7delinsTGC
n.602-9_602-7delinsTGC
21g.43065707_43065708delCA749580077CBSc.452-9_452-8del (n.452-9_452-8del)
n.763-9_763-8del
c.503-9_503-8del (n.503-9_503-8del)
c.137-9_137-8del (n.137-9_137-8del)
n.823-9_823-8del
n.602-9_602-8del
 dbSNP
21g.43065704A=CA2391103894CBSc.452-9T= (n.452-9T=)
n.763-9T=
c.503-9T= (n.503-9T=)
c.137-9T= (n.137-9T=)
n.823-9T=
n.602-9T=
21g.43065704A>CCA2391103895CBSc.452-9T>G (n.452-9T>G)
n.763-9T>G
c.503-9T>G (n.503-9T>G)
c.137-9T>G (n.137-9T>G)
n.823-9T>G
n.602-9T>G
 dbSNP
21g.43065707C>ACA321096761CBSc.452-12G>T (n.452-12G>T)
n.763-12G>T
c.503-12G>T (n.503-12G>T)
c.137-12G>T (n.137-12G>T)
n.823-12G>T
n.602-12G>T
 ClinVar dbSNP gnomAD v4
21g.43065707C=CA2391103896CBSc.452-12G= (n.452-12G=)
n.763-12G=
c.503-12G= (n.503-12G=)
c.137-12G= (n.137-12G=)
n.823-12G=
n.602-12G=
21g.43065709G>CCA2740094744CBSc.452-14C>G (n.452-14C>G)
n.763-14C>G
c.503-14C>G (n.503-14C>G)
c.137-14C>G (n.137-14C>G)
n.823-14C>G
n.602-14C>G
 ClinVar
21g.43065709G>TCA2818001015CBSc.452-14C>A (n.452-14C>A)
n.763-14C>A
c.503-14C>A (n.503-14C>A)
c.137-14C>A (n.137-14C>A)
n.823-14C>A
n.602-14C>A
21g.43065711G>ACA749580079CBSc.452-16C>T (n.452-16C>T)
n.763-16C>T
c.503-16C>T (n.503-16C>T)
c.137-16C>T (n.137-16C>T)
n.823-16C>T
n.602-16C>T
 ClinVar dbSNP gnomAD v4
21g.43065711G=CA2391103897CBSc.452-16C= (n.452-16C=)
n.763-16C=
c.503-16C= (n.503-16C=)
c.137-16C= (n.137-16C=)
n.823-16C=
n.602-16C=
21g.43065712G>ACA321096765CBSc.452-17C>T (n.452-17C>T)
n.763-17C>T
c.503-17C>T (n.503-17C>T)
c.137-17C>T (n.137-17C>T)
n.823-17C>T
n.602-17C>T
 ClinVar dbSNP gnomAD v4
21g.43065712G=CA2391103898CBSc.452-17C= (n.452-17C=)
n.763-17C=
c.503-17C= (n.503-17C=)
c.137-17C= (n.137-17C=)
n.823-17C=
n.602-17C=
21g.43065713G=CA2391103899CBSc.452-18C= (n.452-18C=)
n.763-18C=
c.503-18C= (n.503-18C=)
c.137-18C= (n.137-18C=)
n.823-18C=
n.602-18C=
21g.43065713G>TCA321096766CBSc.452-18C>A (n.452-18C>A)
n.763-18C>A
c.503-18C>A (n.503-18C>A)
c.137-18C>A (n.137-18C>A)
n.823-18C>A
n.602-18C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43065714T>CCA2739267674CBSc.452-19A>G (n.452-19A>G)
n.763-19A>G
c.503-19A>G (n.503-19A>G)
c.137-19A>G (n.137-19A>G)
n.823-19A>G
n.602-19A>G
 ClinVar
21g.43065718_43065719delCA2654728361CBSc.452-21_452-20del (n.452-21_452-20del)
n.763-21_763-20del
c.503-21_503-20del (n.503-21_503-20del)
c.137-21_137-20del (n.137-21_137-20del)
n.823-21_823-20del
n.602-21_602-20del
 gnomAD v4
21g.43065717G>ACA321096767CBSc.452-22C>T (n.452-22C>T)
n.763-22C>T
c.503-22C>T (n.503-22C>T)
c.137-22C>T (n.137-22C>T)
n.823-22C>T
n.602-22C>T
 dbSNP gnomAD v4
21g.43065717G>CCA2391103901CBSc.452-22C>G (n.452-22C>G)
n.763-22C>G
c.503-22C>G (n.503-22C>G)
c.137-22C>G (n.137-22C>G)
n.823-22C>G
n.602-22C>G
 dbSNP
21g.43065717G=CA2391103900CBSc.452-22C= (n.452-22C=)
n.763-22C=
c.503-22C= (n.503-22C=)
c.137-22C= (n.137-22C=)
n.823-22C=
n.602-22C=
21g.43065718A=CA2391103902CBSc.452-23T= (n.452-23T=)
n.763-23T=
c.503-23T= (n.503-23T=)
c.137-23T= (n.137-23T=)
n.823-23T=
n.602-23T=
21g.43065718A>CCA2391103903CBSc.452-23T>G (n.452-23T>G)
n.763-23T>G
c.503-23T>G (n.503-23T>G)
c.137-23T>G (n.137-23T>G)
n.823-23T>G
n.602-23T>G
 dbSNP
21g.43065719G>TCA2818001017CBSc.452-24C>A (n.452-24C>A)
n.763-24C>A
c.503-24C>A (n.503-24C>A)
c.137-24C>A (n.137-24C>A)
n.823-24C>A
n.602-24C>A
21g.43065722dupCA657667282CBSc.452-24dup (n.452-24dup)
n.763-24dup
c.503-24dup (n.503-24dup)
c.137-24dup (n.137-24dup)
n.823-24dup
n.602-24dup
 COSMIC
21g.43065720G>ACA321096774CBSc.452-25C>T (n.452-25C>T)
n.763-25C>T
c.503-25C>T (n.503-25C>T)
c.137-25C>T (n.137-25C>T)
n.823-25C>T
n.602-25C>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065720G=CA2391103904CBSc.452-25C= (n.452-25C=)
n.763-25C=
c.503-25C= (n.503-25C=)
c.137-25C= (n.137-25C=)
n.823-25C=
n.602-25C=
21g.43065720G>TCA749580082CBSc.452-25C>A (n.452-25C>A)
n.763-25C>A
c.503-25C>A (n.503-25C>A)
c.137-25C>A (n.137-25C>A)
n.823-25C>A
n.602-25C>A
 dbSNP gnomAD v4
21g.43065721G>TCA2654728362CBSc.452-26C>A (n.452-26C>A)
n.763-26C>A
c.503-26C>A (n.503-26C>A)
c.137-26C>A (n.137-26C>A)
n.823-26C>A
n.602-26C>A
 gnomAD v4
21g.43065722G>ACA2391103906CBSc.452-27C>T (n.452-27C>T)
n.763-27C>T
c.503-27C>T (n.503-27C>T)
c.137-27C>T (n.137-27C>T)
n.823-27C>T
n.602-27C>T
 dbSNP
21g.43065722G=CA2391103905CBSc.452-27C= (n.452-27C=)
n.763-27C=
c.503-27C= (n.503-27C=)
c.137-27C= (n.137-27C=)
n.823-27C=
n.602-27C=
21g.43065722G>TCA749580085CBSc.452-27C>A (n.452-27C>A)
n.763-27C>A
c.503-27C>A (n.503-27C>A)
c.137-27C>A (n.137-27C>A)
n.823-27C>A
n.602-27C>A
 dbSNP gnomAD v4
21g.43065722_43065723delinsGCCA2391103907CBSc.452-28_452-27delinsGC (n.452-28_452-27delinsGC)
n.763-28_763-27delinsGC
c.503-28_503-27delinsGC (n.503-28_503-27delinsGC)
c.137-28_137-27delinsGC (n.137-28_137-27delinsGC)
n.823-28_823-27delinsGC
n.602-28_602-27delinsGC
21g.43065723C=CA2391103908CBSc.452-28G= (n.452-28G=)
n.763-28G=
c.503-28G= (n.503-28G=)
c.137-28G= (n.137-28G=)
n.823-28G=
n.602-28G=
21g.43065723C>GCA749580087CBSc.452-28G>C (n.452-28G>C)
n.763-28G>C
c.503-28G>C (n.503-28G>C)
c.137-28G>C (n.137-28G>C)
n.823-28G>C
n.602-28G>C
 dbSNP gnomAD v4
21g.43065723C>TCA749580086CBSc.452-28G>A (n.452-28G>A)
n.763-28G>A
c.503-28G>A (n.503-28G>A)
c.137-28G>A (n.137-28G>A)
n.823-28G>A
n.602-28G>A
 dbSNP
21g.43065725delCA920313693CBSc.452-28del (n.452-28del)
n.763-28del
c.503-28del (n.503-28del)
c.137-28del (n.137-28del)
n.823-28del
n.602-28del
 dbSNP gnomAD v4
21g.43065727G>ACA749580088CBSc.452-32C>T (n.452-32C>T)
n.763-32C>T
c.503-32C>T (n.503-32C>T)
c.137-32C>T (n.137-32C>T)
n.823-32C>T
n.602-32C>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065727G=CA2391103909CBSc.452-32C= (n.452-32C=)
n.763-32C=
c.503-32C= (n.503-32C=)
c.137-32C= (n.137-32C=)
n.823-32C=
n.602-32C=
21g.43065730A=CA2391103911CBSc.452-35T= (n.452-35T=)
n.763-35T=
c.503-35T= (n.503-35T=)
c.137-35T= (n.137-35T=)
n.823-35T=
n.602-35T=
21g.43065730A>CCA321096775CBSc.452-35T>G (n.452-35T>G)
n.763-35T>G
c.503-35T>G (n.503-35T>G)
c.137-35T>G (n.137-35T>G)
n.823-35T>G
n.602-35T>G
 dbSNP gnomAD v4
21g.43065730_43065731delinsACCA2391103910CBSc.452-36_452-35delinsGT (n.452-36_452-35delinsGT)
n.763-36_763-35delinsGT
c.503-36_503-35delinsGT (n.503-36_503-35delinsGT)
c.137-36_137-35delinsGT (n.137-36_137-35delinsGT)
n.823-36_823-35delinsGT
n.602-36_602-35delinsGT
21g.43065731C>ACA749580091CBSc.452-36G>T (n.452-36G>T)
n.763-36G>T
c.503-36G>T (n.503-36G>T)
c.137-36G>T (n.137-36G>T)
n.823-36G>T
n.602-36G>T
 dbSNP gnomAD v4
21g.43065731C=CA2391103912CBSc.452-36G= (n.452-36G=)
n.763-36G=
c.503-36G= (n.503-36G=)
c.137-36G= (n.137-36G=)
n.823-36G=
n.602-36G=
21g.43065736dupCA321096777CBSc.452-36dup (n.452-36dup)
n.763-36dup
c.503-36dup (n.503-36dup)
c.137-36dup (n.137-36dup)
n.823-36dup
n.602-36dup
 dbSNP gnomAD v4
21g.43065736delCA749580092CBSc.452-36del (n.452-36del)
n.763-36del
c.503-36del (n.503-36del)
c.137-36del (n.137-36del)
n.823-36del
n.602-36del
 dbSNP gnomAD v4
21g.43065732C>ACA321096779CBSc.452-37G>T (n.452-37G>T)
n.763-37G>T
c.503-37G>T (n.503-37G>T)
c.137-37G>T (n.137-37G>T)
n.823-37G>T
n.602-37G>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065732C=CA2391103913CBSc.452-37G= (n.452-37G=)
n.763-37G=
c.503-37G= (n.503-37G=)
c.137-37G= (n.137-37G=)
n.823-37G=
n.602-37G=
21g.43065732C>TCA2654728363CBSc.452-37G>A (n.452-37G>A)
n.763-37G>A
c.503-37G>A (n.503-37G>A)
c.137-37G>A (n.137-37G>A)
n.823-37G>A
n.602-37G>A
 gnomAD v4
21g.43065733C>TCA2654728364CBSc.452-38G>A (n.452-38G>A)
n.763-38G>A
c.503-38G>A (n.503-38G>A)
c.137-38G>A (n.137-38G>A)
n.823-38G>A
n.602-38G>A
 gnomAD v4
21g.43065734C>ACA2654728365CBSc.452-39G>T (n.452-39G>T)
n.763-39G>T
c.503-39G>T (n.503-39G>T)
c.137-39G>T (n.137-39G>T)
n.823-39G>T
n.602-39G>T
 gnomAD v4
21g.43065736C>ACA321096780CBSc.452-41G>T (n.452-41G>T)
n.763-41G>T
c.503-41G>T (n.503-41G>T)
c.137-41G>T (n.137-41G>T)
n.823-41G>T
n.602-41G>T
 dbSNP gnomAD v3 gnomAD v4
21g.43065736C=CA2391103914CBSc.452-41G= (n.452-41G=)
n.763-41G=
c.503-41G= (n.503-41G=)
c.137-41G= (n.137-41G=)
n.823-41G=
n.602-41G=
21g.43065736C>TCA2654728366CBSc.452-41G>A (n.452-41G>A)
n.763-41G>A
c.503-41G>A (n.503-41G>A)
c.137-41G>A (n.137-41G>A)
n.823-41G>A
n.602-41G>A
 gnomAD v4
21g.43065737A>CCA2654728367CBSc.452-42T>G (n.452-42T>G)
n.763-42T>G
c.503-42T>G (n.503-42T>G)
c.137-42T>G (n.137-42T>G)
n.823-42T>G
n.602-42T>G
 gnomAD v4
21g.43065738A>CCA2818001021CBSc.452-43T>G (n.452-43T>G)
n.763-43T>G
c.503-43T>G (n.503-43T>G)
c.137-43T>G (n.137-43T>G)
n.823-43T>G
n.602-43T>G
21g.43065739G>ACA749580093CBSc.452-44C>T (n.452-44C>T)
n.763-44C>T
c.503-44C>T (n.503-44C>T)
c.137-44C>T (n.137-44C>T)
n.823-44C>T
n.602-44C>T
 dbSNP
21g.43065739G=CA2391103915CBSc.452-44C= (n.452-44C=)
n.763-44C=
c.503-44C= (n.503-44C=)
c.137-44C= (n.137-44C=)
n.823-44C=
n.602-44C=
21g.43065740C=CA2391103916CBSc.452-45G= (n.452-45G=)
n.763-45G=
c.503-45G= (n.503-45G=)
c.137-45G= (n.137-45G=)
n.823-45G=
n.602-45G=
21g.43065740C>GCA321096781CBSc.452-45G>C (n.452-45G>C)
n.763-45G>C
c.503-45G>C (n.503-45G>C)
c.137-45G>C (n.137-45G>C)
n.823-45G>C
n.602-45G>C
21g.43065741C=CA2391103917CBSc.452-46G= (n.452-46G=)
n.763-46G=
c.503-46G= (n.503-46G=)
c.137-46G= (n.137-46G=)
n.823-46G=
n.602-46G=
21g.43065741C>TCA749580094CBSc.452-46G>A (n.452-46G>A)
n.763-46G>A
c.503-46G>A (n.503-46G>A)
c.137-46G>A (n.137-46G>A)
n.823-46G>A
n.602-46G>A
 dbSNP
21g.43065743T>GCA2818001022CBSc.452-48A>C (n.452-48A>C)
n.763-48A>C
c.503-48A>C (n.503-48A>C)
c.137-48A>C (n.137-48A>C)
n.823-48A>C
n.602-48A>C
21g.43065744G=CA2391103918CBSc.452-49C= (n.452-49C=)
n.763-49C=
c.503-49C= (n.503-49C=)
c.137-49C= (n.137-49C=)
n.823-49C=
n.602-49C=
21g.43065744G>TCA749580095CBSc.452-49C>A (n.452-49C>A)
n.763-49C>A
c.503-49C>A (n.503-49C>A)
c.137-49C>A (n.137-49C>A)
n.823-49C>A
n.602-49C>A
 dbSNP
21g.43065745C=CA2391103919CBSc.452-50G= (n.452-50G=)
n.763-50G=
c.503-50G= (n.503-50G=)
c.137-50G= (n.137-50G=)
n.823-50G=
n.602-50G=
21g.43065745C>TCA749580096CBSc.452-50G>A (n.452-50G>A)
n.763-50G>A
c.503-50G>A (n.503-50G>A)
c.137-50G>A (n.137-50G>A)
n.823-50G>A
n.602-50G>A
 dbSNP gnomAD v4

Number of alleles fetched