Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.87253402delCA2577827033CHMP2Bc.425-2del (n.425-2del)
c.473-2del (n.473-2del)
n.4087del
n.4172del
n.354del
c.302-2del (n.302-2del)
c.335-2del (n.335-2del)
3g.87253402A>CCA353697441CHMP2Bc.425-2A>C (n.425-2A>C)
c.473-2A>C (n.473-2A>C)
n.4087A>C
n.4172A>C
n.354A>C
c.302-2A>C (n.302-2A>C)
c.335-2A>C (n.335-2A>C)
3g.87253402A>GCA353697442CHMP2Bc.425-2A>G (n.425-2A>G)
c.473-2A>G (n.473-2A>G)
n.4087A>G
n.4172A>G
n.354A>G
c.302-2A>G (n.302-2A>G)
c.335-2A>G (n.335-2A>G)
3g.87253402A>TCA353697443CHMP2Bc.425-2A>T (n.425-2A>T)
c.473-2A>T (n.473-2A>T)
n.4087A>T
n.4172A>T
n.354A>T
c.302-2A>T (n.302-2A>T)
c.335-2A>T (n.335-2A>T)
 gnomAD v4
3g.87253402_87253403dupCA2666628593CHMP2Bc.425-2_425-1dup (n.425-2_425-1dup)
c.473-2_473-1dup (n.473-2_473-1dup)
n.4087_4088dup
n.4172_4173dup
n.354_355dup
c.302-2_302-1dup (n.302-2_302-1dup)
c.335-2_335-1dup (n.335-2_335-1dup)
 gnomAD v4
3g.87253403G>ACA353697446CHMP2Bc.425-1G>A (n.425-1G>A)
c.473-1G>A (n.473-1G>A)
n.4088G>A
n.4173G>A
n.355G>A
c.302-1G>A (n.302-1G>A)
c.335-1G>A (n.335-1G>A)
3g.87253403G>CCA353697445CHMP2Bc.425-1G>C (n.425-1G>C)
c.473-1G>C (n.473-1G>C)
n.4088G>C
n.4173G>C
n.355G>C
c.302-1G>C (n.302-1G>C)
c.335-1G>C (n.335-1G>C)
3g.87253403G>TCA353697444CHMP2Bc.425-1G>T (n.425-1G>T)
c.473-1G>T (n.473-1G>T)
n.4088G>T
n.4173G>T
n.355G>T
c.302-1G>T (n.302-1G>T)
c.335-1G>T (n.335-1G>T)
3g.87253404T>ACA353697449CHMP2Bc.425T>A (p.Ile142Asn)
c.473T>A (p.Ile158Asn)
n.4089T>A
n.4174T>A
n.356T>A
c.302T>A (p.Ile101Asn)
c.335T>A (p.Ile112Asn)
3g.87253404T>CCA353697447CHMP2Bc.425T>C (p.Ile142Thr)
c.473T>C (p.Ile158Thr)
n.4089T>C
n.4174T>C
n.356T>C
c.302T>C (p.Ile101Thr)
c.335T>C (p.Ile112Thr)
 dbSNP gnomAD v4
3g.87253404T>GCA353697448CHMP2Bc.425T>G (p.Ile142Ser)
c.473T>G (p.Ile158Ser)
n.4089T>G
n.4174T>G
n.356T>G
c.302T>G (p.Ile101Ser)
c.335T>G (p.Ile112Ser)
 gnomAD v4
3g.87253404T=CA1381558018CHMP2Bc.425T= (p.Ile142=)
c.473T= (p.Ile158=)
n.4089T=
n.4174T=
n.356T=
c.302T= (p.Ile101=)
c.335T= (p.Ile112=)
3g.87253405C>ACA434576658CHMP2Bc.426C>A (p.Ile142=)
c.474C>A (p.Ile158=)
n.4090C>A
n.4175C>A
n.357C>A
c.303C>A (p.Ile101=)
c.336C>A (p.Ile112=)
 gnomAD v4
3g.87253405C=CA1381558021CHMP2Bc.426C= (p.Ile142=)
c.474C= (p.Ile158=)
n.4090C=
n.4175C=
n.357C=
c.303C= (p.Ile101=)
c.336C= (p.Ile112=)
3g.87253405C>GCA2500999CHMP2Bc.426C>G (p.Ile142Met)
c.474C>G (p.Ile158Met)
n.4090C>G
n.4175C>G
n.357C>G
c.303C>G (p.Ile101Met)
c.336C>G (p.Ile112Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87253405C>TCA434576659CHMP2Bc.426C>T (p.Ile142=)
c.474C>T (p.Ile158=)
n.4090C>T
n.4175C>T
n.357C>T
c.303C>T (p.Ile101=)
c.336C>T (p.Ile112=)
3g.87253406A>CCA353697450CHMP2Bc.427A>C (p.Asn143His)
c.475A>C (p.Asn159His)
n.4091A>C
n.4176A>C
n.358A>C
c.304A>C (p.Asn102His)
c.337A>C (p.Asn113His)
3g.87253406A>GCA353697451CHMP2Bc.427A>G (p.Asn143Asp)
c.475A>G (p.Asn159Asp)
n.4091A>G
n.4176A>G
n.358A>G
c.304A>G (p.Asn102Asp)
c.337A>G (p.Asn113Asp)
 ClinVar dbSNP
3g.87253406A>TCA353697452CHMP2Bc.427A>T (p.Asn143Tyr)
c.475A>T (p.Asn159Tyr)
n.4091A>T
n.4176A>T
n.358A>T
c.304A>T (p.Asn102Tyr)
c.337A>T (p.Asn113Tyr)
3g.87253407A=CA1381558023CHMP2Bc.428A= (p.Asn143=)
c.476A= (p.Asn159=)
n.4092A=
n.4177A=
n.359A=
c.305A= (p.Asn102=)
c.338A= (p.Asn113=)
3g.87253407A>CCA353697454CHMP2Bc.428A>C (p.Asn143Thr)
c.476A>C (p.Asn159Thr)
n.4092A>C
n.4177A>C
n.359A>C
c.305A>C (p.Asn102Thr)
c.338A>C (p.Asn113Thr)
3g.87253407A>GCA224972CHMP2Bc.428A>G (p.Asn143Ser)
c.476A>G (p.Asn159Ser)
n.4092A>G
n.4177A>G
n.359A>G
c.305A>G (p.Asn102Ser)
c.338A>G (p.Asn113Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87253407A>TCA353697453CHMP2Bc.428A>T (p.Asn143Ile)
c.476A>T (p.Asn159Ile)
n.4092A>T
n.4177A>T
n.359A>T
c.305A>T (p.Asn102Ile)
c.338A>T (p.Asn113Ile)
 gnomAD v4
3g.87253408T>ACA353697455CHMP2Bc.429T>A (p.Asn143Lys)
c.477T>A (p.Asn159Lys)
n.4093T>A
n.4178T>A
n.360T>A
c.306T>A (p.Asn102Lys)
c.339T>A (p.Asn113Lys)
3g.87253408T>CCA434576660CHMP2Bc.429T>C (p.Asn143=)
c.477T>C (p.Asn159=)
n.4093T>C
n.4178T>C
n.360T>C
c.306T>C (p.Asn102=)
c.339T>C (p.Asn113=)
 dbSNP gnomAD v3 gnomAD v4
3g.87253408T>GCA353697456CHMP2Bc.429T>G (p.Asn143Lys)
c.477T>G (p.Asn159Lys)
n.4093T>G
n.4178T>G
n.360T>G
c.306T>G (p.Asn102Lys)
c.339T>G (p.Asn113Lys)
3g.87253408T=CA1381558027CHMP2Bc.429T= (p.Asn143=)
c.477T= (p.Asn159=)
n.4093T=
n.4178T=
n.360T=
c.306T= (p.Asn102=)
c.339T= (p.Asn113=)
3g.87253409G>ACA353697457CHMP2Bc.430G>A (p.Asp144Asn)
c.478G>A (p.Asp160Asn)
n.4094G>A
n.4179G>A
n.361G>A
c.307G>A (p.Asp103Asn)
c.340G>A (p.Asp114Asn)
3g.87253409G>CCA353697458CHMP2Bc.430G>C (p.Asp144His)
c.478G>C (p.Asp160His)
n.4094G>C
n.4179G>C
n.361G>C
c.307G>C (p.Asp103His)
c.340G>C (p.Asp114His)
3g.87253409G>TCA353697459CHMP2Bc.430G>T (p.Asp144Tyr)
c.478G>T (p.Asp160Tyr)
n.4094G>T
n.4179G>T
n.361G>T
c.307G>T (p.Asp103Tyr)
c.340G>T (p.Asp114Tyr)
3g.87253410A>CCA353697460CHMP2Bc.431A>C (p.Asp144Ala)
c.479A>C (p.Asp160Ala)
n.4095A>C
n.4180A>C
n.362A>C
c.308A>C (p.Asp103Ala)
c.341A>C (p.Asp114Ala)
3g.87253410A>GCA353697462CHMP2Bc.431A>G (p.Asp144Gly)
c.479A>G (p.Asp160Gly)
n.4095A>G
n.4180A>G
n.362A>G
c.308A>G (p.Asp103Gly)
c.341A>G (p.Asp114Gly)
 gnomAD v4
3g.87253410A>TCA353697461CHMP2Bc.431A>T (p.Asp144Val)
c.479A>T (p.Asp160Val)
n.4095A>T
n.4180A>T
n.362A>T
c.308A>T (p.Asp103Val)
c.341A>T (p.Asp114Val)
 gnomAD v4
3g.87253411T>ACA353697463CHMP2Bc.432T>A (p.Asp144Glu)
c.480T>A (p.Asp160Glu)
n.4096T>A
n.4181T>A
n.363T>A
c.309T>A (p.Asp103Glu)
c.342T>A (p.Asp114Glu)
3g.87253411T>CCA434576661CHMP2Bc.432T>C (p.Asp144=)
c.480T>C (p.Asp160=)
n.4096T>C
n.4181T>C
n.363T>C
c.309T>C (p.Asp103=)
c.342T>C (p.Asp114=)
 gnomAD v4
3g.87253411T>GCA353697464CHMP2Bc.432T>G (p.Asp144Glu)
c.480T>G (p.Asp160Glu)
n.4096T>G
n.4181T>G
n.363T>G
c.309T>G (p.Asp103Glu)
c.342T>G (p.Asp114Glu)
3g.87253412A>CCA353697465CHMP2Bc.433A>C (p.Thr145Pro)
c.481A>C (p.Thr161Pro)
n.4097A>C
n.4182A>C
n.364A>C
c.310A>C (p.Thr104Pro)
c.343A>C (p.Thr115Pro)
3g.87253412A>GCA353697466CHMP2Bc.433A>G (p.Thr145Ala)
c.481A>G (p.Thr161Ala)
n.4097A>G
n.4182A>G
n.364A>G
c.310A>G (p.Thr104Ala)
c.343A>G (p.Thr115Ala)
3g.87253412A>TCA353697467CHMP2Bc.433A>T (p.Thr145Ser)
c.481A>T (p.Thr161Ser)
n.4097A>T
n.4182A>T
n.364A>T
c.310A>T (p.Thr104Ser)
c.343A>T (p.Thr115Ser)
3g.87253413delCA2666628594CHMP2Bc.434del (p.Thr145AsnfsTer19)
c.482del (p.Thr161AsnfsTer19)
n.4098del
n.4183del
n.365del
c.311del (p.Thr104AsnfsTer19)
c.344del (p.Thr115AsnfsTer19)
 gnomAD v4
3g.87253413C>ACA353697468CHMP2Bc.434C>A (p.Thr145Lys)
c.482C>A (p.Thr161Lys)
n.4098C>A
n.4183C>A
n.365C>A
c.311C>A (p.Thr104Lys)
c.344C>A (p.Thr115Lys)
 gnomAD v4
3g.87253413C>GCA353697469CHMP2Bc.434C>G (p.Thr145Arg)
c.482C>G (p.Thr161Arg)
n.4098C>G
n.4183C>G
n.365C>G
c.311C>G (p.Thr104Arg)
c.344C>G (p.Thr115Arg)
3g.87253413C>TCA353697470CHMP2Bc.434C>T (p.Thr145Ile)
c.482C>T (p.Thr161Ile)
n.4098C>T
n.4183C>T
n.365C>T
c.311C>T (p.Thr104Ile)
c.344C>T (p.Thr115Ile)
3g.87253414A>CCA434576662CHMP2Bc.435A>C (p.Thr145=)
c.483A>C (p.Thr161=)
n.4099A>C
n.4184A>C
n.366A>C
c.312A>C (p.Thr104=)
c.345A>C (p.Thr115=)
3g.87253414A>GCA434576663CHMP2Bc.435A>G (p.Thr145=)
c.483A>G (p.Thr161=)
n.4099A>G
n.4184A>G
n.366A>G
c.312A>G (p.Thr104=)
c.345A>G (p.Thr115=)
3g.87253414A>TCA434576664CHMP2Bc.435A>T (p.Thr145=)
c.483A>T (p.Thr161=)
n.4099A>T
n.4184A>T
n.366A>T
c.312A>T (p.Thr104=)
c.345A>T (p.Thr115=)
3g.87253415C>ACA353697471CHMP2Bc.436C>A (p.Leu146Ile)
c.484C>A (p.Leu162Ile)
n.4100C>A
n.4185C>A
n.367C>A
c.313C>A (p.Leu105Ile)
c.346C>A (p.Leu116Ile)
 gnomAD v4
3g.87253415C>GCA353697472CHMP2Bc.436C>G (p.Leu146Val)
c.484C>G (p.Leu162Val)
n.4100C>G
n.4185C>G
n.367C>G
c.313C>G (p.Leu105Val)
c.346C>G (p.Leu116Val)
3g.87253415C>TCA353697473CHMP2Bc.436C>T (p.Leu146Phe)
c.484C>T (p.Leu162Phe)
n.4100C>T
n.4185C>T
n.367C>T
c.313C>T (p.Leu105Phe)
c.346C>T (p.Leu116Phe)
3g.87253416T>ACA353697475CHMP2Bc.437T>A (p.Leu146His)
c.485T>A (p.Leu162His)
n.4101T>A
n.4186T>A
n.368T>A
c.314T>A (p.Leu105His)
c.347T>A (p.Leu116His)

Number of alleles fetched