Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67456191delCA679481923CABP4c.370del (p.Arg124AlafsTer8)
c.55del (p.Arg19AlafsTer8)
c.*51del (n.*51del)
c.430del (p.Arg144AlafsTer8)
n.436+402del
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.67456191C>ACA381529400CABP4c.370C>A (p.Arg124Ser)
c.55C>A (p.Arg19Ser)
c.*51C>A (n.*51C>A)
c.430C>A (p.Arg144Ser)
n.436+402C>A
11g.67456191C=CA1980136670CABP4c.370C= (p.Arg124=)
c.55C= (p.Arg19=)
c.*51C= (n.*51C=)
c.430C= (p.Arg144=)
n.436+402C=
11g.67456191C>GCA381529397CABP4c.370C>G (p.Arg124Gly)
c.55C>G (p.Arg19Gly)
c.*51C>G (n.*51C>G)
c.430C>G (p.Arg144Gly)
n.436+402C>G
 gnomAD v4
11g.67456191C>TCA115276CABP4c.370C>T (p.Arg124Cys)
c.55C>T (p.Arg19Cys)
c.*51C>T (n.*51C>T)
c.430C>T (p.Arg144Cys)
n.436+402C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.67456192G>ACA6140184CABP4c.371G>A (p.Arg124His)
c.56G>A (p.Arg19His)
c.*52G>A (n.*52G>A)
c.431G>A (p.Arg144His)
n.436+403G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67456192G>CCA381529401CABP4c.371G>C (p.Arg124Pro)
c.56G>C (p.Arg19Pro)
c.*52G>C (n.*52G>C)
c.431G>C (p.Arg144Pro)
n.436+403G>C
11g.67456192G=CA1980136673CABP4c.371G= (p.Arg124=)
c.56G= (p.Arg19=)
c.*52G= (n.*52G=)
c.431G= (p.Arg144=)
n.436+403G=
11g.67456192G>TCA381529403CABP4c.371G>T (p.Arg124Leu)
c.56G>T (p.Arg19Leu)
c.*52G>T (n.*52G>T)
c.431G>T (p.Arg144Leu)
n.436+403G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67456193C>ACA6140186CABP4c.372C>A (p.Arg124=)
c.57C>A (p.Arg19=)
c.*53C>A (n.*53C>A)
c.432C>A (p.Arg144=)
n.436+404C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67456193C=CA1980136675CABP4c.372C= (p.Arg124=)
c.57C= (p.Arg19=)
c.*53C= (n.*53C=)
c.432C= (p.Arg144=)
n.436+404C=
11g.67456193C>GCA475381928CABP4c.372C>G (p.Arg124=)
c.57C>G (p.Arg19=)
c.*53C>G (n.*53C>G)
c.432C>G (p.Arg144=)
n.436+404C>G
11g.67456193C>TCA6140185CABP4c.372C>T (p.Arg124=)
c.57C>T (p.Arg19=)
c.*53C>T (n.*53C>T)
c.432C>T (p.Arg144=)
n.436+404C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67456194G>ACA381529409CABP4c.373G>A (p.Glu125Lys)
c.58G>A (p.Glu20Lys)
c.*54G>A (n.*54G>A)
c.433G>A (p.Glu145Lys)
n.436+405G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.67456194G>CCA381529405CABP4c.373G>C (p.Glu125Gln)
c.58G>C (p.Glu20Gln)
c.*54G>C (n.*54G>C)
c.433G>C (p.Glu145Gln)
n.436+405G>C
 gnomAD v4
11g.67456194G=CA1980136676CABP4c.373G= (p.Glu125=)
c.58G= (p.Glu20=)
c.*54G= (n.*54G=)
c.433G= (p.Glu145=)
n.436+405G=
11g.67456194G>TCA381529406CABP4c.373G>T (p.Glu125Ter)
c.58G>T (p.Glu20Ter)
c.*54G>T (n.*54G>T)
c.433G>T (p.Glu145Ter)
n.436+405G>T
 dbSNP gnomAD v2 gnomAD v4
11g.67456195A>CCA381529411CABP4c.374A>C (p.Glu125Ala)
c.59A>C (p.Glu20Ala)
c.*55A>C (n.*55A>C)
c.434A>C (p.Glu145Ala)
n.436+406A>C
11g.67456195A>GCA381529416CABP4c.374A>G (p.Glu125Gly)
c.59A>G (p.Glu20Gly)
c.*55A>G (n.*55A>G)
c.434A>G (p.Glu145Gly)
n.436+406A>G
11g.67456195A>TCA381529414CABP4c.374A>T (p.Glu125Val)
c.59A>T (p.Glu20Val)
c.*55A>T (n.*55A>T)
c.434A>T (p.Glu145Val)
n.436+406A>T
11g.67456196A>CCA381529417CABP4c.375A>C (p.Glu125Asp)
c.60A>C (p.Glu20Asp)
c.*56A>C (n.*56A>C)
c.435A>C (p.Glu145Asp)
n.436+407A>C
11g.67456196A>GCA475381938CABP4c.375A>G (p.Glu125=)
c.60A>G (p.Glu20=)
c.*56A>G (n.*56A>G)
c.435A>G (p.Glu145=)
n.436+407A>G
 gnomAD v4
11g.67456196A>TCA381529419CABP4c.375A>T (p.Glu125Asp)
c.60A>T (p.Glu20Asp)
c.*56A>T (n.*56A>T)
c.435A>T (p.Glu145Asp)
n.436+407A>T
11g.67456197C>ACA381529423CABP4c.376C>A (p.Leu126Met)
c.61C>A (p.Leu21Met)
c.*57C>A (n.*57C>A)
c.436C>A (p.Leu146Met)
n.436+408C>A
11g.67456197C>GCA381529426CABP4c.376C>G (p.Leu126Val)
c.61C>G (p.Leu21Val)
c.*57C>G (n.*57C>G)
c.436C>G (p.Leu146Val)
n.436+408C>G
11g.67456197C>TCA475381939CABP4c.376C>T (p.Leu126=)
c.61C>T (p.Leu21=)
c.*57C>T (n.*57C>T)
c.436C>T (p.Leu146=)
n.436+408C>T
11g.67456198T>ACA6140187CABP4c.377T>A (p.Leu126Gln)
c.62T>A (p.Leu21Gln)
c.*58T>A (n.*58T>A)
c.437T>A (p.Leu146Gln)
n.436+409T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67456198T>CCA381529441CABP4c.377T>C (p.Leu126Pro)
c.62T>C (p.Leu21Pro)
c.*58T>C (n.*58T>C)
c.437T>C (p.Leu146Pro)
n.436+409T>C
 dbSNP
11g.67456198T>GCA381529443CABP4c.377T>G (p.Leu126Arg)
c.62T>G (p.Leu21Arg)
c.*58T>G (n.*58T>G)
c.437T>G (p.Leu146Arg)
n.436+409T>G
11g.67456198T=CA1980136677CABP4c.377T= (p.Leu126=)
c.62T= (p.Leu21=)
c.*58T= (n.*58T=)
c.437T= (p.Leu146=)
n.436+409T=
11g.67456199G>ACA6140188CABP4c.378G>A (p.Leu126=)
c.63G>A (p.Leu21=)
c.*59G>A (n.*59G>A)
c.438G>A (p.Leu146=)
n.436+410G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67456199G>CCA475381941CABP4c.378G>C (p.Leu126=)
c.63G>C (p.Leu21=)
c.*59G>C (n.*59G>C)
c.438G>C (p.Leu146=)
n.436+410G>C
11g.67456199G=CA1980136678CABP4c.378G= (p.Leu126=)
c.63G= (p.Leu21=)
c.*59G= (n.*59G=)
c.438G= (p.Leu146=)
n.436+410G=
11g.67456199G>TCA475381942CABP4c.378G>T (p.Leu126=)
c.63G>T (p.Leu21=)
c.*59G>T (n.*59G>T)
c.438G>T (p.Leu146=)
n.436+410G>T
11g.67456200G>ACA381529456CABP4c.379G>A (p.Gly127Ser)
c.64G>A (p.Gly22Ser)
c.*60G>A (n.*60G>A)
c.439G>A (p.Gly147Ser)
n.436+411G>A
 gnomAD v4
11g.67456200G>CCA381529459CABP4c.379G>C (p.Gly127Arg)
c.64G>C (p.Gly22Arg)
c.*60G>C (n.*60G>C)
c.439G>C (p.Gly147Arg)
n.436+411G>C
11g.67456200G>TCA381529461CABP4c.379G>T (p.Gly127Cys)
c.64G>T (p.Gly22Cys)
c.*60G>T (n.*60G>T)
c.439G>T (p.Gly147Cys)
n.436+411G>T
 gnomAD v4
11g.67456201G>ACA381529465CABP4c.380G>A (p.Gly127Asp)
c.65G>A (p.Gly22Asp)
c.*61G>A (n.*61G>A)
c.440G>A (p.Gly147Asp)
n.436+412G>A
11g.67456201G>CCA381529468CABP4c.380G>C (p.Gly127Ala)
c.65G>C (p.Gly22Ala)
c.*61G>C (n.*61G>C)
c.440G>C (p.Gly147Ala)
n.436+412G>C
11g.67456201G>TCA381529470CABP4c.380G>T (p.Gly127Val)
c.65G>T (p.Gly22Val)
c.*61G>T (n.*61G>T)
c.440G>T (p.Gly147Val)
n.436+412G>T
 gnomAD v4 COSMIC COSMIC
11g.67456201_67456202delinsGCCA1980136680CABP4c.380_381delinsGC (p.Gly127=)
c.65_66delinsGC (p.Gly22=)
c.*61_*62delinsGC (n.*61_*62delinsGC)
c.440_441delinsGC (p.Gly147=)
n.436+412_436+413delinsGC
11g.67456202C>ACA6140189CABP4c.381C>A (p.Gly127=)
c.66C>A (p.Gly22=)
c.*62C>A (n.*62C>A)
c.441C>A (p.Gly147=)
n.436+413C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67456202C=CA1980136683CABP4c.381C= (p.Gly127=)
c.66C= (p.Gly22=)
c.*62C= (n.*62C=)
c.441C= (p.Gly147=)
n.436+413C=
11g.67456202C>GCA475381945CABP4c.381C>G (p.Gly127=)
c.66C>G (p.Gly22=)
c.*62C>G (n.*62C>G)
c.441C>G (p.Gly147=)
n.436+413C>G
11g.67456202C>TCA475381946CABP4c.381C>T (p.Gly127=)
c.66C>T (p.Gly22=)
c.*62C>T (n.*62C>T)
c.441C>T (p.Gly147=)
n.436+413C>T
 gnomAD v4
11g.67456205delCA679481952CABP4c.384del (p.Glu129ArgfsTer3)
c.69del (p.Glu24ArgfsTer3)
c.*65del (n.*65del)
c.444del (p.Glu149ArgfsTer3)
n.436+416del
 dbSNP gnomAD v3 gnomAD v4
11g.67456203C>ACA381529474CABP4c.382C>A (p.Pro128Thr)
c.67C>A (p.Pro23Thr)
c.*63C>A (n.*63C>A)
c.442C>A (p.Pro148Thr)
n.436+414C>A
11g.67456203C>GCA381529475CABP4c.382C>G (p.Pro128Ala)
c.67C>G (p.Pro23Ala)
c.*63C>G (n.*63C>G)
c.442C>G (p.Pro148Ala)
n.436+414C>G
 gnomAD v4
11g.67456203C>TCA381529478CABP4c.382C>T (p.Pro128Ser)
c.67C>T (p.Pro23Ser)
c.*63C>T (n.*63C>T)
c.442C>T (p.Pro148Ser)
n.436+414C>T
11g.67456204C>ACA381529481CABP4c.383C>A (p.Pro128His)
c.68C>A (p.Pro23His)
c.*64C>A (n.*64C>A)
c.443C>A (p.Pro148His)
n.436+415C>A

Number of alleles fetched