Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52027974delCA1457429116SGCBc.749del (p.Lys250ArgfsTer8)
c.452del (p.Lys151ArgfsTer8)
c.539del (p.Lys180ArgfsTer8)
 dbSNP
4g.52027973T>ACA356875741SGCBc.748A>T (p.Lys250Ter)
c.451A>T (p.Lys151Ter)
c.538A>T (p.Lys180Ter)
4g.52027973T>CCA356875742SGCBc.748A>G (p.Lys250Glu)
c.451A>G (p.Lys151Glu)
c.538A>G (p.Lys180Glu)
4g.52027973T>GCA356875743SGCBc.748A>C (p.Lys250Gln)
c.451A>C (p.Lys151Gln)
c.538A>C (p.Lys180Gln)
4g.52027974T>ACA356875744SGCBc.747A>T (p.Leu249Phe)
c.450A>T (p.Leu150Phe)
c.537A>T (p.Leu179Phe)
4g.52027974T>CCA439273609SGCBc.747A>G (p.Leu249=)
c.450A>G (p.Leu150=)
c.537A>G (p.Leu179=)
4g.52027974T>GCA356875745SGCBc.747A>C (p.Leu249Phe)
c.450A>C (p.Leu150Phe)
c.537A>C (p.Leu179Phe)
4g.52027975A=CA1457429117SGCBc.746T= (p.Leu249=)
c.449T= (p.Leu150=)
c.536T= (p.Leu179=)
4g.52027975A>CCA356875746SGCBc.746T>G (p.Leu249Ter)
c.449T>G (p.Leu150Ter)
c.536T>G (p.Leu179Ter)
4g.52027975A>GCA356875747SGCBc.746T>C (p.Leu249Ser)
c.449T>C (p.Leu150Ser)
c.536T>C (p.Leu179Ser)
 dbSNP
4g.52027975A>TCA356875748SGCBc.746T>A (p.Leu249Ter)
c.449T>A (p.Leu150Ter)
c.536T>A (p.Leu179Ter)
4g.52027976A>CCA356875749SGCBc.745T>G (p.Leu249Val)
c.448T>G (p.Leu150Val)
c.535T>G (p.Leu179Val)
4g.52027976A>GCA439273611SGCBc.745T>C (p.Leu249=)
c.448T>C (p.Leu150=)
c.535T>C (p.Leu179=)
4g.52027976A>TCA356875750SGCBc.745T>A (p.Leu249Ile)
c.448T>A (p.Leu150Ile)
c.535T>A (p.Leu179Ile)
4g.52027977delCA2670598629SGCBc.744del (p.Glu248AspfsTer2)
c.447del (p.Glu149AspfsTer2)
c.534del (p.Glu178AspfsTer2)
 gnomAD v4
4g.52027977C>ACA356875751SGCBc.744G>T (p.Glu248Asp)
c.447G>T (p.Glu149Asp)
c.534G>T (p.Glu178Asp)
4g.52027977C=CA1457429118SGCBc.744G= (p.Glu248=)
c.447G= (p.Glu149=)
c.534G= (p.Glu178=)
4g.52027977C>GCA356875752SGCBc.744G>C (p.Glu248Asp)
c.447G>C (p.Glu149Asp)
c.534G>C (p.Glu178Asp)
4g.52027977C>TCA2918306SGCBc.744G>A (p.Glu248=)
c.447G>A (p.Glu149=)
c.534G>A (p.Glu178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52027978T>ACA356875753SGCBc.743A>T (p.Glu248Val)
c.446A>T (p.Glu149Val)
c.533A>T (p.Glu178Val)
4g.52027978T>CCA356875754SGCBc.743A>G (p.Glu248Gly)
c.446A>G (p.Glu149Gly)
c.533A>G (p.Glu178Gly)
4g.52027978T>GCA356875755SGCBc.743A>C (p.Glu248Ala)
c.446A>C (p.Glu149Ala)
c.533A>C (p.Glu178Ala)
4g.52027979C>ACA356875756SGCBc.742G>T (p.Glu248Ter)
c.445G>T (p.Glu149Ter)
c.532G>T (p.Glu178Ter)
4g.52027979C>GCA356875757SGCBc.742G>C (p.Glu248Gln)
c.445G>C (p.Glu149Gln)
c.532G>C (p.Glu178Gln)
 COSMIC
4g.52027979C>TCA356875758SGCBc.742G>A (p.Glu248Lys)
c.445G>A (p.Glu149Lys)
c.532G>A (p.Glu178Lys)
4g.52027983_52027994delCA2670598630SGCBc.731_742del (p.Gly244_Met247del)
c.434_445del (p.Gly145_Met148del)
c.521_532del (p.Gly174_Met177del)
 gnomAD v4
4g.52027980C>ACA356875759SGCBc.741G>T (p.Met247Ile)
c.444G>T (p.Met148Ile)
c.531G>T (p.Met177Ile)
4g.52027980C>GCA356875760SGCBc.741G>C (p.Met247Ile)
c.444G>C (p.Met148Ile)
c.531G>C (p.Met177Ile)
4g.52027980C>TCA356875761SGCBc.741G>A (p.Met247Ile)
c.444G>A (p.Met148Ile)
c.531G>A (p.Met177Ile)
4g.52027981A=CA1457429119SGCBc.740T= (p.Met247=)
c.443T= (p.Met148=)
c.530T= (p.Met177=)
4g.52027981A>CCA356875764SGCBc.740T>G (p.Met247Arg)
c.443T>G (p.Met148Arg)
c.530T>G (p.Met177Arg)
4g.52027981A>GCA356875762SGCBc.740T>C (p.Met247Thr)
c.443T>C (p.Met148Thr)
c.530T>C (p.Met177Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52027981A>TCA356875763SGCBc.740T>A (p.Met247Lys)
c.443T>A (p.Met148Lys)
c.530T>A (p.Met177Lys)
 gnomAD v4
4g.52027982T>ACA356875765SGCBc.739A>T (p.Met247Leu)
c.442A>T (p.Met148Leu)
c.529A>T (p.Met177Leu)
4g.52027982T>CCA356875766SGCBc.739A>G (p.Met247Val)
c.442A>G (p.Met148Val)
c.529A>G (p.Met177Val)
4g.52027982T>GCA356875767SGCBc.739A>C (p.Met247Leu)
c.442A>C (p.Met148Leu)
c.529A>C (p.Met177Leu)
4g.52027982dupCA2586973769SGCBc.739dup (p.Met247AsnfsTer?)
c.442dup (p.Met148AsnfsTer?)
c.529dup (p.Met177AsnfsTer?)
4g.52027983A=CA1457429120SGCBc.738T= (p.Asn246=)
c.441T= (p.Asn147=)
c.528T= (p.Asn176=)
4g.52027983A>CCA356875768SGCBc.738T>G (p.Asn246Lys)
c.441T>G (p.Asn147Lys)
c.528T>G (p.Asn176Lys)
4g.52027983A>GCA439273618SGCBc.738T>C (p.Asn246=)
c.441T>C (p.Asn147=)
c.528T>C (p.Asn176=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52027983A>TCA356875769SGCBc.738T>A (p.Asn246Lys)
c.441T>A (p.Asn147Lys)
c.528T>A (p.Asn176Lys)
4g.52027984T>ACA356875770SGCBc.737A>T (p.Asn246Ile)
c.440A>T (p.Asn147Ile)
c.527A>T (p.Asn176Ile)
4g.52027984T>CCA356875771SGCBc.737A>G (p.Asn246Ser)
c.440A>G (p.Asn147Ser)
c.527A>G (p.Asn176Ser)
4g.52027984T>GCA356875772SGCBc.737A>C (p.Asn246Thr)
c.440A>C (p.Asn147Thr)
c.527A>C (p.Asn176Thr)
4g.52027985T>ACA2918307SGCBc.736A>T (p.Asn246Tyr)
c.439A>T (p.Asn147Tyr)
c.526A>T (p.Asn176Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027985T>CCA2918308SGCBc.736A>G (p.Asn246Asp)
c.439A>G (p.Asn147Asp)
c.526A>G (p.Asn176Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52027985T>GCA356875773SGCBc.736A>C (p.Asn246His)
c.439A>C (p.Asn147His)
c.526A>C (p.Asn176His)
4g.52027985T=CA1457429121SGCBc.736A= (p.Asn246=)
c.439A= (p.Asn147=)
c.526A= (p.Asn176=)
4g.52027985_52027986delCA2573137890SGCBc.735_736del (p.Asn246TyrfsTer?)
c.438_439del (p.Asn147TyrfsTer?)
c.525_526del (p.Asn176TyrfsTer?)
 ClinVar dbSNP
4g.52027986A=CA1457429122SGCBc.735T= (p.Gly245=)
c.438T= (p.Gly146=)
c.525T= (p.Gly175=)

Number of alleles fetched