Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.93218655_93218695dupCA2626239399UBR7c.730_770dup (p.Ser257ArgfsTer11)
c.502_542dup (p.Ser181ArgfsTer11)
c.*431_*471dup (n.*431_*471dup)
c.378+3374_378+3414dup
n.832_872dup
n.632_672dup
 gnomAD v4
14g.93218651A>CCA390811070UBR7c.726A>C (p.Glu242Asp)
c.498A>C (p.Glu166Asp)
c.*427A>C (n.*427A>C)
c.378+3370A>C
c.435A>C (p.Glu145Asp)
n.828A>C
n.628A>C
14g.93218651A>GCA487594111UBR7c.726A>G (p.Glu242=)
c.498A>G (p.Glu166=)
c.*427A>G (n.*427A>G)
c.378+3370A>G
c.435A>G (p.Glu145=)
n.828A>G
n.628A>G
14g.93218651A>TCA390811071UBR7c.726A>T (p.Glu242Asp)
c.498A>T (p.Glu166Asp)
c.*427A>T (n.*427A>T)
c.378+3370A>T
c.435A>T (p.Glu145Asp)
n.828A>T
n.628A>T
14g.93218652C>ACA390811074UBR7c.727C>A (p.Gln243Lys)
c.499C>A (p.Gln167Lys)
c.*428C>A (n.*428C>A)
c.378+3371C>A
c.436C>A (p.Gln146Lys)
n.829C>A
n.629C>A
14g.93218652C=CA2155441056UBR7c.727C= (p.Gln243=)
c.499C= (p.Gln167=)
c.*428C= (n.*428C=)
c.378+3371C=
c.436C= (p.Gln146=)
n.829C=
n.629C=
14g.93218652C>GCA390811075UBR7c.727C>G (p.Gln243Glu)
c.499C>G (p.Gln167Glu)
c.*428C>G (n.*428C>G)
c.378+3371C>G
c.436C>G (p.Gln146Glu)
n.829C>G
n.629C>G
 dbSNP gnomAD v4
14g.93218652C>TCA390811076UBR7c.727C>T (p.Gln243Ter)
c.499C>T (p.Gln167Ter)
c.*428C>T (n.*428C>T)
c.378+3371C>T
c.436C>T (p.Gln146Ter)
n.829C>T
n.629C>T
14g.93218653A=CA2155441057UBR7c.728A= (p.Gln243=)
c.500A= (p.Gln167=)
c.*429A= (n.*429A=)
c.378+3372A=
c.437A= (p.Gln146=)
n.830A=
n.630A=
14g.93218653A>CCA390811079UBR7c.728A>C (p.Gln243Pro)
c.500A>C (p.Gln167Pro)
c.*429A>C (n.*429A>C)
c.378+3372A>C
c.437A>C (p.Gln146Pro)
n.830A>C
n.630A>C
14g.93218653A>GCA390811080UBR7c.728A>G (p.Gln243Arg)
c.500A>G (p.Gln167Arg)
c.*429A>G (n.*429A>G)
c.378+3372A>G
c.437A>G (p.Gln146Arg)
n.830A>G
n.630A>G
 dbSNP gnomAD v4
14g.93218653A>TCA390811081UBR7c.728A>T (p.Gln243Leu)
c.500A>T (p.Gln167Leu)
c.*429A>T (n.*429A>T)
c.378+3372A>T
c.437A>T (p.Gln146Leu)
n.830A>T
n.630A>T
14g.93218654G>ACA487594112UBR7c.729G>A (p.Gln243=)
c.501G>A (p.Gln167=)
c.*430G>A (n.*430G>A)
c.378+3373G>A
c.438G>A (p.Gln146=)
n.831G>A
n.631G>A
14g.93218654G>CCA390811082UBR7c.729G>C (p.Gln243His)
c.501G>C (p.Gln167His)
c.*430G>C (n.*430G>C)
c.378+3373G>C
c.438G>C (p.Gln146His)
n.831G>C
n.631G>C
14g.93218654G>TCA390811084UBR7c.729G>T (p.Gln243His)
c.501G>T (p.Gln167His)
c.*430G>T (n.*430G>T)
c.378+3373G>T
c.438G>T (p.Gln146His)
n.831G>T
n.631G>T
14g.93218655G>ACA7319912UBR7c.730G>A (p.Gly244Arg)
c.502G>A (p.Gly168Arg)
c.*431G>A (n.*431G>A)
c.378+3374G>A
c.439G>A (p.Gly147Arg)
n.832G>A
n.632G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218655G>CCA390811086UBR7c.730G>C (p.Gly244Arg)
c.502G>C (p.Gly168Arg)
c.*431G>C (n.*431G>C)
c.378+3374G>C
c.439G>C (p.Gly147Arg)
n.832G>C
n.632G>C
14g.93218655G=CA2155441058UBR7c.730G= (p.Gly244=)
c.502G= (p.Gly168=)
c.*431G= (n.*431G=)
c.378+3374G=
c.439G= (p.Gly147=)
n.832G=
n.632G=
14g.93218655G>TCA390811088UBR7c.730G>T (p.Gly244Ter)
c.502G>T (p.Gly168Ter)
c.*431G>T (n.*431G>T)
c.378+3374G>T
c.439G>T (p.Gly147Ter)
n.832G>T
n.632G>T
14g.93218656G>ACA390811090UBR7c.731G>A (p.Gly244Glu)
c.503G>A (p.Gly168Glu)
c.*432G>A (n.*432G>A)
c.378+3375G>A
c.440G>A (p.Gly147Glu)
n.833G>A
n.633G>A
14g.93218656G>CCA390811091UBR7c.731G>C (p.Gly244Ala)
c.503G>C (p.Gly168Ala)
c.*432G>C (n.*432G>C)
c.378+3375G>C
c.440G>C (p.Gly147Ala)
n.833G>C
n.633G>C
14g.93218656G=CA2155441059UBR7c.731G= (p.Gly244=)
c.503G= (p.Gly168=)
c.*432G= (n.*432G=)
c.378+3375G=
c.440G= (p.Gly147=)
n.833G=
n.633G=
14g.93218656G>TCA7319913UBR7c.731G>T (p.Gly244Val)
c.503G>T (p.Gly168Val)
c.*432G>T (n.*432G>T)
c.378+3375G>T
c.440G>T (p.Gly147Val)
n.833G>T
n.633G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218657A>CCA487594114UBR7c.732A>C (p.Gly244=)
c.504A>C (p.Gly168=)
c.*433A>C (n.*433A>C)
c.378+3376A>C
c.441A>C (p.Gly147=)
n.834A>C
n.634A>C
14g.93218657A>GCA487594113UBR7c.732A>G (p.Gly244=)
c.504A>G (p.Gly168=)
c.*433A>G (n.*433A>G)
c.378+3376A>G
c.441A>G (p.Gly147=)
n.834A>G
n.634A>G
14g.93218657A>TCA487594115UBR7c.732A>T (p.Gly244=)
c.504A>T (p.Gly168=)
c.*433A>T (n.*433A>T)
c.378+3376A>T
c.441A>T (p.Gly147=)
n.834A>T
n.634A>T
14g.93218658A>CCA390811098UBR7c.733A>C (p.Lys245Gln)
c.505A>C (p.Lys169Gln)
c.*434A>C (n.*434A>C)
c.378+3377A>C
c.442A>C (p.Lys148Gln)
n.835A>C
n.635A>C
14g.93218658A>GCA390811096UBR7c.733A>G (p.Lys245Glu)
c.505A>G (p.Lys169Glu)
c.*434A>G (n.*434A>G)
c.378+3377A>G
c.442A>G (p.Lys148Glu)
n.835A>G
n.635A>G
14g.93218658A>TCA390811095UBR7c.733A>T (p.Lys245Ter)
c.505A>T (p.Lys169Ter)
c.*434A>T (n.*434A>T)
c.378+3377A>T
c.442A>T (p.Lys148Ter)
n.835A>T
n.635A>T
14g.93218659A=CA2155441060UBR7c.734A= (p.Lys245=)
c.506A= (p.Lys169=)
c.*435A= (n.*435A=)
c.378+3378A=
c.443A= (p.Lys148=)
n.836A=
n.636A=
14g.93218659A>CCA390811101UBR7c.734A>C (p.Lys245Thr)
c.506A>C (p.Lys169Thr)
c.*435A>C (n.*435A>C)
c.378+3378A>C
c.443A>C (p.Lys148Thr)
n.836A>C
n.636A>C
14g.93218659A>GCA390811103UBR7c.734A>G (p.Lys245Arg)
c.506A>G (p.Lys169Arg)
c.*435A>G (n.*435A>G)
c.378+3378A>G
c.443A>G (p.Lys148Arg)
n.836A>G
n.636A>G
 dbSNP
14g.93218659A>TCA390811105UBR7c.734A>T (p.Lys245Met)
c.506A>T (p.Lys169Met)
c.*435A>T (n.*435A>T)
c.378+3378A>T
c.443A>T (p.Lys148Met)
n.836A>T
n.636A>T
14g.93218660G>ACA7319914UBR7c.735G>A (p.Lys245=)
c.507G>A (p.Lys169=)
c.*436G>A (n.*436G>A)
c.378+3379G>A
c.444G>A (p.Lys148=)
n.837G>A
n.637G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218660G>CCA390811107UBR7c.735G>C (p.Lys245Asn)
c.507G>C (p.Lys169Asn)
c.*436G>C (n.*436G>C)
c.378+3379G>C
c.444G>C (p.Lys148Asn)
n.837G>C
n.637G>C
14g.93218660G=CA2155441061UBR7c.735G= (p.Lys245=)
c.507G= (p.Lys169=)
c.*436G= (n.*436G=)
c.378+3379G=
c.444G= (p.Lys148=)
n.837G=
n.637G=
14g.93218660G>TCA390811109UBR7c.735G>T (p.Lys245Asn)
c.507G>T (p.Lys169Asn)
c.*436G>T (n.*436G>T)
c.378+3379G>T
c.444G>T (p.Lys148Asn)
n.837G>T
n.637G>T
 gnomAD v4
14g.93218661G>ACA7319915UBR7c.736G>A (p.Asp246Asn)
c.508G>A (p.Asp170Asn)
c.*437G>A (n.*437G>A)
c.378+3380G>A
c.445G>A (p.Asp149Asn)
n.838G>A
n.638G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218661G>CCA390811112UBR7c.736G>C (p.Asp246His)
c.508G>C (p.Asp170His)
c.*437G>C (n.*437G>C)
c.378+3380G>C
c.445G>C (p.Asp149His)
n.838G>C
n.638G>C
14g.93218661G=CA2155441062UBR7c.736G= (p.Asp246=)
c.508G= (p.Asp170=)
c.*437G= (n.*437G=)
c.378+3380G=
c.445G= (p.Asp149=)
n.838G=
n.638G=
14g.93218661G>TCA390811114UBR7c.736G>T (p.Asp246Tyr)
c.508G>T (p.Asp170Tyr)
c.*437G>T (n.*437G>T)
c.378+3380G>T
c.445G>T (p.Asp149Tyr)
n.838G>T
n.638G>T
14g.93218662A=CA2155441063UBR7c.737A= (p.Asp246=)
c.509A= (p.Asp170=)
c.*438A= (n.*438A=)
c.378+3381A=
c.446A= (p.Asp149=)
n.839A=
n.639A=
14g.93218662A>CCA390811116UBR7c.737A>C (p.Asp246Ala)
c.509A>C (p.Asp170Ala)
c.*438A>C (n.*438A>C)
c.378+3381A>C
c.446A>C (p.Asp149Ala)
n.839A>C
n.639A>C
14g.93218662A>GCA7319916UBR7c.737A>G (p.Asp246Gly)
c.509A>G (p.Asp170Gly)
c.*438A>G (n.*438A>G)
c.378+3381A>G
c.446A>G (p.Asp149Gly)
n.839A>G
n.639A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218662A>TCA390811118UBR7c.737A>T (p.Asp246Val)
c.509A>T (p.Asp170Val)
c.*438A>T (n.*438A>T)
c.378+3381A>T
c.446A>T (p.Asp149Val)
n.839A>T
n.639A>T
14g.93218663T>ACA390811121UBR7c.738T>A (p.Asp246Glu)
c.510T>A (p.Asp170Glu)
c.*439T>A (n.*439T>A)
c.378+3382T>A
c.447T>A (p.Asp149Glu)
n.840T>A
n.640T>A
14g.93218663T>CCA487594116UBR7c.738T>C (p.Asp246=)
c.510T>C (p.Asp170=)
c.*439T>C (n.*439T>C)
c.378+3382T>C
c.447T>C (p.Asp149=)
n.840T>C
n.640T>C
14g.93218663T>GCA390811122UBR7c.738T>G (p.Asp246Glu)
c.510T>G (p.Asp170Glu)
c.*439T>G (n.*439T>G)
c.378+3382T>G
c.447T>G (p.Asp149Glu)
n.840T>G
n.640T>G
14g.93218664G>ACA390811126UBR7c.739G>A (p.Asp247Asn)
c.511G>A (p.Asp171Asn)
c.*440G>A (n.*440G>A)
c.378+3383G>A
c.448G>A (p.Asp150Asn)
n.841G>A
n.641G>A
 dbSNP
14g.93218664G>CCA390811129UBR7c.739G>C (p.Asp247His)
c.511G>C (p.Asp171His)
c.*440G>C (n.*440G>C)
c.378+3383G>C
c.448G>C (p.Asp150His)
n.841G>C
n.641G>C

Number of alleles fetched