Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.116019847_116019849delCA645586776MED13Lc.754_756del (p.Glu252del)
c.724_726del (p.Glu242del)
c.182_184del
c.664_666del (p.Glu222del)
n.518_520del
 gnomAD v4 COSMIC
12g.116019851_116019854delCA645586777MED13Lc.750_753del (p.Glu251AsnfsTer20)
c.720_723del (p.Glu241AsnfsTer20)
c.178_181del
c.660_663del (p.Glu221AsnfsTer20)
n.514_517del
 COSMIC
12g.116019846T>ACA386870963MED13Lc.752A>T (p.Glu251Val)
c.722A>T (p.Glu241Val)
c.180A>T
c.662A>T (p.Glu221Val)
n.516A>T
12g.116019846T>CCA115346MED13Lc.752A>G (p.Glu251Gly)
c.722A>G (p.Glu241Gly)
c.180A>G
c.662A>G (p.Glu221Gly)
n.516A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.116019846T>GCA386870964MED13Lc.752A>C (p.Glu251Ala)
c.722A>C (p.Glu241Ala)
c.180A>C
c.662A>C (p.Glu221Ala)
n.516A>C
12g.116019846T=CA2065393804MED13Lc.752A= (p.Glu251=)
c.722A= (p.Glu241=)
c.180A=
c.662A= (p.Glu221=)
n.516A=
12g.116019847C>ACA386870965MED13Lc.751G>T (p.Glu251Ter)
c.721G>T (p.Glu241Ter)
c.179G>T
c.661G>T (p.Glu221Ter)
n.515G>T
12g.116019847C>GCA386870966MED13Lc.751G>C (p.Glu251Gln)
c.721G>C (p.Glu241Gln)
c.179G>C
c.661G>C (p.Glu221Gln)
n.515G>C
12g.116019847C>TCA386870967MED13Lc.751G>A (p.Glu251Lys)
c.721G>A (p.Glu241Lys)
c.179G>A
c.661G>A (p.Glu221Lys)
n.515G>A
12g.116019848T>ACA386870968MED13Lc.750A>T (p.Lys250Asn)
c.720A>T (p.Lys240Asn)
c.178A>T
c.660A>T (p.Lys220Asn)
n.514A>T
12g.116019848T>CCA481933494MED13Lc.750A>G (p.Lys250=)
c.720A>G (p.Lys240=)
c.178A>G
c.660A>G (p.Lys220=)
n.514A>G
 gnomAD v4
12g.116019848T>GCA386870969MED13Lc.750A>C (p.Lys250Asn)
c.720A>C (p.Lys240Asn)
c.178A>C
c.660A>C (p.Lys220Asn)
n.514A>C
12g.116019849T>ACA386870970MED13Lc.749A>T (p.Lys250Ile)
c.719A>T (p.Lys240Ile)
c.177A>T
c.659A>T (p.Lys220Ile)
n.513A>T
12g.116019849T>CCA386870971MED13Lc.749A>G (p.Lys250Arg)
c.719A>G (p.Lys240Arg)
c.177A>G
c.659A>G (p.Lys220Arg)
n.513A>G
12g.116019849T>GCA386870972MED13Lc.749A>C (p.Lys250Thr)
c.719A>C (p.Lys240Thr)
c.177A>C
c.659A>C (p.Lys220Thr)
n.513A>C
12g.116019849_116019851delinsTTCCA2065393810MED13Lc.747_749delinsGAA (p.Lys249=)
c.717_719delinsGAA (p.Lys239=)
c.175_177delinsGAA
c.657_659delinsGAA (p.Lys219=)
n.511_513delinsGAA
12g.116019850T>ACA386870973MED13Lc.748A>T (p.Lys250Ter)
c.718A>T (p.Lys240Ter)
c.176A>T
c.658A>T (p.Lys220Ter)
n.512A>T
12g.116019850T>CCA386870974MED13Lc.748A>G (p.Lys250Glu)
c.718A>G (p.Lys240Glu)
c.176A>G
c.658A>G (p.Lys220Glu)
n.512A>G
12g.116019850T>GCA386870975MED13Lc.748A>C (p.Lys250Gln)
c.718A>C (p.Lys240Gln)
c.176A>C
c.658A>C (p.Lys220Gln)
n.512A>C
12g.116019851_116019852delCA915946730MED13Lc.747_748del (p.Lys250ArgfsTer12)
c.717_718del (p.Lys240ArgfsTer12)
c.175_176del
c.657_658del (p.Lys220ArgfsTer12)
n.511_512del
 ClinVar dbSNP
12g.116019851C>ACA386870976MED13Lc.747G>T (p.Lys249Asn)
c.717G>T (p.Lys239Asn)
c.175G>T
c.657G>T (p.Lys219Asn)
n.511G>T
 ClinVar dbSNP
12g.116019851C=CA2065393825MED13Lc.747G= (p.Lys249=)
c.717G= (p.Lys239=)
c.175G=
c.657G= (p.Lys219=)
n.511G=
12g.116019851C>GCA386870977MED13Lc.747G>C (p.Lys249Asn)
c.717G>C (p.Lys239Asn)
c.175G>C
c.657G>C (p.Lys219Asn)
n.511G>C
12g.116019851C>TCA244127554MED13Lc.747G>A (p.Lys249=)
c.717G>A (p.Lys239=)
c.175G>A
c.657G>A (p.Lys219=)
n.511G>A
 dbSNP
12g.116019851_116019852delinsCTCA2065393826MED13Lc.746_747delinsAG (p.Lys249=)
c.716_717delinsAG (p.Lys239=)
c.174_175delinsAG
c.656_657delinsAG (p.Lys219=)
n.510_511delinsAG
12g.116019852T>ACA386870978MED13Lc.746A>T (p.Lys249Met)
c.716A>T (p.Lys239Met)
c.174A>T
c.656A>T (p.Lys219Met)
n.510A>T
12g.116019852T>CCA386870979MED13Lc.746A>G (p.Lys249Arg)
c.716A>G (p.Lys239Arg)
c.174A>G
c.656A>G (p.Lys219Arg)
n.510A>G
12g.116019852T>GCA386870980MED13Lc.746A>C (p.Lys249Thr)
c.716A>C (p.Lys239Thr)
c.174A>C
c.656A>C (p.Lys219Thr)
n.510A>C
12g.116019857dupCA2573148009MED13Lc.746dup (p.Lys250GlufsTer13)
c.716dup (p.Lys240GlufsTer13)
c.174dup
c.656dup (p.Lys220GlufsTer13)
n.510dup
 ClinVar dbSNP
12g.116019857delCA481933495MED13Lc.746del (p.Lys249ArgfsTer23)
c.716del (p.Lys239ArgfsTer23)
c.174del
c.656del (p.Lys219ArgfsTer23)
n.510del
 dbSNP COSMIC
12g.116019853T>ACA386870981MED13Lc.745A>T (p.Lys249Ter)
c.715A>T (p.Lys239Ter)
c.173A>T
c.655A>T (p.Lys219Ter)
n.509A>T
 ClinVar dbSNP
12g.116019853T>CCA386870982MED13Lc.745A>G (p.Lys249Glu)
c.715A>G (p.Lys239Glu)
c.173A>G
c.655A>G (p.Lys219Glu)
n.509A>G
12g.116019853T>GCA386870983MED13Lc.745A>C (p.Lys249Gln)
c.715A>C (p.Lys239Gln)
c.173A>C
c.655A>C (p.Lys219Gln)
n.509A>C
 COSMIC
12g.116019853T=CA2065393833MED13Lc.745A= (p.Lys249=)
c.715A= (p.Lys239=)
c.173A=
c.655A= (p.Lys219=)
n.509A=
12g.116019854T>ACA386870984MED13Lc.744A>T (p.Lys248Asn)
c.714A>T (p.Lys238Asn)
c.172A>T
c.654A>T (p.Lys218Asn)
n.508A>T
12g.116019854T>CCA481933496MED13Lc.744A>G (p.Lys248=)
c.714A>G (p.Lys238=)
c.172A>G
c.654A>G (p.Lys218=)
n.508A>G
12g.116019854T>GCA386870985MED13Lc.744A>C (p.Lys248Asn)
c.714A>C (p.Lys238Asn)
c.172A>C
c.654A>C (p.Lys218Asn)
n.508A>C
12g.116019855T>ACA386870986MED13Lc.743A>T (p.Lys248Ile)
c.713A>T (p.Lys238Ile)
c.171A>T
c.653A>T (p.Lys218Ile)
n.507A>T
12g.116019855T>CCA386870987MED13Lc.743A>G (p.Lys248Arg)
c.713A>G (p.Lys238Arg)
c.171A>G
c.653A>G (p.Lys218Arg)
n.507A>G
 gnomAD v4
12g.116019855T>GCA386870988MED13Lc.743A>C (p.Lys248Thr)
c.713A>C (p.Lys238Thr)
c.171A>C
c.653A>C (p.Lys218Thr)
n.507A>C
12g.116019856T>ACA386870991MED13Lc.742A>T (p.Lys248Ter)
c.712A>T (p.Lys238Ter)
c.170A>T
c.652A>T (p.Lys218Ter)
n.506A>T
12g.116019856T>CCA386870990MED13Lc.742A>G (p.Lys248Glu)
c.712A>G (p.Lys238Glu)
c.170A>G
c.652A>G (p.Lys218Glu)
n.506A>G
12g.116019856T>GCA386870989MED13Lc.742A>C (p.Lys248Gln)
c.712A>C (p.Lys238Gln)
c.170A>C
c.652A>C (p.Lys218Gln)
n.506A>C
12g.116019857T>ACA481933497MED13Lc.741A>T (p.Leu247=)
c.711A>T (p.Leu237=)
c.169A>T
c.651A>T (p.Leu217=)
n.505A>T
12g.116019857T>CCA481933499MED13Lc.741A>G (p.Leu247=)
c.711A>G (p.Leu237=)
c.169A>G
c.651A>G (p.Leu217=)
n.505A>G
 gnomAD v4
12g.116019857T>GCA481933498MED13Lc.741A>C (p.Leu247=)
c.711A>C (p.Leu237=)
c.169A>C
c.651A>C (p.Leu217=)
n.505A>C
12g.116019858A=CA2065393846MED13Lc.740T= (p.Leu247=)
c.710T= (p.Leu237=)
c.168T=
c.650T= (p.Leu217=)
n.504T=
12g.116019858A>CCA386870992MED13Lc.740T>G (p.Leu247Arg)
c.710T>G (p.Leu237Arg)
c.168T>G
c.650T>G (p.Leu217Arg)
n.504T>G
12g.116019858A>GCA6811587MED13Lc.740T>C (p.Leu247Pro)
c.710T>C (p.Leu237Pro)
c.168T>C
c.650T>C (p.Leu217Pro)
n.504T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116019858A>TCA386870993MED13Lc.740T>A (p.Leu247Gln)
c.710T>A (p.Leu237Gln)
c.168T>A
c.650T>A (p.Leu217Gln)
n.504T>A
12g.116019859G>ACA481933500MED13Lc.739C>T (p.Leu247=)
c.709C>T (p.Leu237=)
c.167C>T
c.649C>T (p.Leu217=)
n.503C>T
 dbSNP gnomAD v3 gnomAD v4
12g.116019859G>CCA386870994MED13Lc.739C>G (p.Leu247Val)
c.709C>G (p.Leu237Val)
c.167C>G
c.649C>G (p.Leu217Val)
n.503C>G
12g.116019859G=CA2065393854MED13Lc.739C= (p.Leu247=)
c.709C= (p.Leu237=)
c.167C=
c.649C= (p.Leu217=)
n.503C=
12g.116019859G>TCA386870995MED13Lc.739C>A (p.Leu247Ile)
c.709C>A (p.Leu237Ile)
c.167C>A
c.649C>A (p.Leu217Ile)
n.503C>A
12g.116019860C>ACA481933501MED13Lc.738G>T (p.Val246=)
c.708G>T (p.Val236=)
c.166G>T
c.648G>T (p.Val216=)
n.502G>T
12g.116019860C>GCA481933502MED13Lc.738G>C (p.Val246=)
c.708G>C (p.Val236=)
c.166G>C
c.648G>C (p.Val216=)
n.502G>C
12g.116019860C>TCA481933503MED13Lc.738G>A (p.Val246=)
c.708G>A (p.Val236=)
c.166G>A
c.648G>A (p.Val216=)
n.502G>A
12g.116019861A=CA2065393857MED13Lc.737T= (p.Val246=)
c.707T= (p.Val236=)
c.165T=
c.647T= (p.Val216=)
n.501T=
12g.116019861A>CCA386870998MED13Lc.737T>G (p.Val246Gly)
c.707T>G (p.Val236Gly)
c.165T>G
c.647T>G (p.Val216Gly)
n.501T>G
 dbSNP
12g.116019861A>GCA386870997MED13Lc.737T>C (p.Val246Ala)
c.707T>C (p.Val236Ala)
c.165T>C
c.647T>C (p.Val216Ala)
n.501T>C
12g.116019861A>TCA386870996MED13Lc.737T>A (p.Val246Glu)
c.707T>A (p.Val236Glu)
c.165T>A
c.647T>A (p.Val216Glu)
n.501T>A
12g.116019862C>ACA386870999MED13Lc.736G>T (p.Val246Leu)
c.706G>T (p.Val236Leu)
c.164G>T
c.646G>T (p.Val216Leu)
n.500G>T
 gnomAD v4
12g.116019862C=CA2065393861MED13Lc.736G= (p.Val246=)
c.706G= (p.Val236=)
c.164G=
c.646G= (p.Val216=)
n.500G=
12g.116019862C>GCA386871000MED13Lc.736G>C (p.Val246Leu)
c.706G>C (p.Val236Leu)
c.164G>C
c.646G>C (p.Val216Leu)
n.500G>C
 dbSNP
12g.116019862C>TCA386871001MED13Lc.736G>A (p.Val246Met)
c.706G>A (p.Val236Met)
c.164G>A
c.646G>A (p.Val216Met)
n.500G>A
 gnomAD v4
12g.116019863C>ACA386871003MED13Lc.735G>T (p.Met245Ile)
c.705G>T (p.Met235Ile)
c.163G>T
c.645G>T (p.Met215Ile)
n.499G>T
 ClinVar
12g.116019863C>GCA386871005MED13Lc.735G>C (p.Met245Ile)
c.705G>C (p.Met235Ile)
c.163G>C
c.645G>C (p.Met215Ile)
n.499G>C
12g.116019863C>TCA386871008MED13Lc.735G>A (p.Met245Ile)
c.705G>A (p.Met235Ile)
c.163G>A
c.645G>A (p.Met215Ile)
n.499G>A
12g.116019864A=CA2065393865MED13Lc.734T= (p.Met245=)
c.704T= (p.Met235=)
c.162T=
c.644T= (p.Met215=)
n.498T=
12g.116019864A>CCA386871011MED13Lc.734T>G (p.Met245Arg)
c.704T>G (p.Met235Arg)
c.162T>G
c.644T>G (p.Met215Arg)
n.498T>G
12g.116019864A>GCA386871016MED13Lc.734T>C (p.Met245Thr)
c.704T>C (p.Met235Thr)
c.162T>C
c.644T>C (p.Met215Thr)
n.498T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116019864A>TCA386871014MED13Lc.734T>A (p.Met245Lys)
c.704T>A (p.Met235Lys)
c.162T>A
c.644T>A (p.Met215Lys)
n.498T>A
12g.116019865T>ACA386871020MED13Lc.733A>T (p.Met245Leu)
c.703A>T (p.Met235Leu)
c.161A>T
c.643A>T (p.Met215Leu)
n.497A>T
12g.116019865T>CCA244127558MED13Lc.733A>G (p.Met245Val)
c.703A>G (p.Met235Val)
c.161A>G
c.643A>G (p.Met215Val)
n.497A>G
 dbSNP gnomAD v4
12g.116019865T>GCA386871025MED13Lc.733A>C (p.Met245Leu)
c.703A>C (p.Met235Leu)
c.161A>C
c.643A>C (p.Met215Leu)
n.497A>C
12g.116019865T=CA2065393870MED13Lc.733A= (p.Met245=)
c.703A= (p.Met235=)
c.161A=
c.643A= (p.Met215=)
n.497A=
12g.116019866C>ACA481933504MED13Lc.732G>T (p.Pro244=)
c.702G>T (p.Pro234=)
c.160G>T
c.642G>T (p.Pro214=)
n.496G>T
 gnomAD v4
12g.116019866C=CA2065393874MED13Lc.732G= (p.Pro244=)
c.702G= (p.Pro234=)
c.160G=
c.642G= (p.Pro214=)
n.496G=
12g.116019866C>GCA481933505MED13Lc.732G>C (p.Pro244=)
c.702G>C (p.Pro234=)
c.160G>C
c.642G>C (p.Pro214=)
n.496G>C
 ClinVar
12g.116019866C>TCA481933506MED13Lc.732G>A (p.Pro244=)
c.702G>A (p.Pro234=)
c.160G>A
c.642G>A (p.Pro214=)
n.496G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.116019867G>ACA6811588MED13Lc.731C>T (p.Pro244Leu)
c.701C>T (p.Pro234Leu)
c.159C>T
c.641C>T (p.Pro214Leu)
n.495C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116019867G>CCA386871030MED13Lc.731C>G (p.Pro244Arg)
c.701C>G (p.Pro234Arg)
c.159C>G
c.641C>G (p.Pro214Arg)
n.495C>G
12g.116019867G=CA2065393881MED13Lc.731C= (p.Pro244=)
c.701C= (p.Pro234=)
c.159C=
c.641C= (p.Pro214=)
n.495C=
12g.116019867G>TCA386871033MED13Lc.731C>A (p.Pro244Gln)
c.701C>A (p.Pro234Gln)
c.159C>A
c.641C>A (p.Pro214Gln)
n.495C>A
12g.116019868G>ACA386871036MED13Lc.730C>T (p.Pro244Ser)
c.700C>T (p.Pro234Ser)
c.158C>T
c.640C>T (p.Pro214Ser)
n.494C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116019868G>CCA386871037MED13Lc.730C>G (p.Pro244Ala)
c.700C>G (p.Pro234Ala)
c.158C>G
c.640C>G (p.Pro214Ala)
n.494C>G
12g.116019868G=CA2065393884MED13Lc.730C= (p.Pro244=)
c.700C= (p.Pro234=)
c.158C=
c.640C= (p.Pro214=)
n.494C=
12g.116019868G>TCA386871040MED13Lc.730C>A (p.Pro244Thr)
c.700C>A (p.Pro234Thr)
c.158C>A
c.640C>A (p.Pro214Thr)
n.494C>A
12g.116019869G>ACA481933507MED13Lc.729C>T (p.Tyr243=)
c.699C>T (p.Tyr233=)
c.157C>T
c.639C>T (p.Tyr213=)
n.493C>T
 COSMIC
12g.116019869G>CCA386871043MED13Lc.729C>G (p.Tyr243Ter)
c.699C>G (p.Tyr233Ter)
c.157C>G
c.639C>G (p.Tyr213Ter)
n.493C>G
12g.116019869G>TCA386871045MED13Lc.729C>A (p.Tyr243Ter)
c.699C>A (p.Tyr233Ter)
c.157C>A
c.639C>A (p.Tyr213Ter)
n.493C>A
12g.116019870T>ACA386871052MED13Lc.728A>T (p.Tyr243Phe)
c.698A>T (p.Tyr233Phe)
c.156A>T
c.638A>T (p.Tyr213Phe)
n.492A>T
12g.116019870T>CCA386871054MED13Lc.728A>G (p.Tyr243Cys)
c.698A>G (p.Tyr233Cys)
c.156A>G
c.638A>G (p.Tyr213Cys)
n.492A>G
12g.116019870T>GCA386871049MED13Lc.728A>C (p.Tyr243Ser)
c.698A>C (p.Tyr233Ser)
c.156A>C
c.638A>C (p.Tyr213Ser)
n.492A>C
12g.116019871A>CCA386871061MED13Lc.727T>G (p.Tyr243Asp)
c.697T>G (p.Tyr233Asp)
c.155T>G
c.637T>G (p.Tyr213Asp)
n.491T>G
12g.116019871A>GCA386871058MED13Lc.727T>C (p.Tyr243His)
c.697T>C (p.Tyr233His)
c.155T>C
c.637T>C (p.Tyr213His)
n.491T>C
 ClinVar
12g.116019871A>TCA386871063MED13Lc.727T>A (p.Tyr243Asn)
c.697T>A (p.Tyr233Asn)
c.155T>A
c.637T>A (p.Tyr213Asn)
n.491T>A
12g.116019872G>ACA481933508MED13Lc.726C>T (p.Phe242=)
c.696C>T (p.Phe232=)
c.154C>T
c.636C>T (p.Phe212=)
n.490C>T
12g.116019872G>CCA386871066MED13Lc.726C>G (p.Phe242Leu)
c.696C>G (p.Phe232Leu)
c.154C>G
c.636C>G (p.Phe212Leu)
n.490C>G
12g.116019872G>TCA386871068MED13Lc.726C>A (p.Phe242Leu)
c.696C>A (p.Phe232Leu)
c.154C>A
c.636C>A (p.Phe212Leu)
n.490C>A
12g.116019873A>CCA386871071MED13Lc.725T>G (p.Phe242Cys)
c.695T>G (p.Phe232Cys)
c.153T>G
c.635T>G (p.Phe212Cys)
n.489T>G
 gnomAD v4
12g.116019873A>GCA386871073MED13Lc.725T>C (p.Phe242Ser)
c.695T>C (p.Phe232Ser)
c.153T>C
c.635T>C (p.Phe212Ser)
n.489T>C
12g.116019873A>TCA386871076MED13Lc.725T>A (p.Phe242Tyr)
c.695T>A (p.Phe232Tyr)
c.153T>A
c.635T>A (p.Phe212Tyr)
n.489T>A
12g.116019874A>CCA386871079MED13Lc.724T>G (p.Phe242Val)
c.694T>G (p.Phe232Val)
c.152T>G
c.634T>G (p.Phe212Val)
n.488T>G
12g.116019874A>GCA386871081MED13Lc.724T>C (p.Phe242Leu)
c.694T>C (p.Phe232Leu)
c.152T>C
c.634T>C (p.Phe212Leu)
n.488T>C
12g.116019874A>TCA386871083MED13Lc.724T>A (p.Phe242Ile)
c.694T>A (p.Phe232Ile)
c.152T>A
c.634T>A (p.Phe212Ile)
n.488T>A
12g.116019875A>CCA386871087MED13Lc.723T>G (p.Tyr241Ter)
c.693T>G (p.Tyr231Ter)
c.151T>G
c.633T>G (p.Tyr211Ter)
n.487T>G
12g.116019875A>GCA481933509MED13Lc.723T>C (p.Tyr241=)
c.693T>C (p.Tyr231=)
c.151T>C
c.633T>C (p.Tyr211=)
n.487T>C
 gnomAD v4
12g.116019875A>TCA386871089MED13Lc.723T>A (p.Tyr241Ter)
c.693T>A (p.Tyr231Ter)
c.151T>A
c.633T>A (p.Tyr211Ter)
n.487T>A
12g.116019876T>ACA386871093MED13Lc.722A>T (p.Tyr241Phe)
c.692A>T (p.Tyr231Phe)
c.150A>T
c.632A>T (p.Tyr211Phe)
n.486A>T
12g.116019876T>CCA6811589MED13Lc.722A>G (p.Tyr241Cys)
c.692A>G (p.Tyr231Cys)
c.150A>G
c.632A>G (p.Tyr211Cys)
n.486A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.116019876T>GCA386871097MED13Lc.722A>C (p.Tyr241Ser)
c.692A>C (p.Tyr231Ser)
c.150A>C
c.632A>C (p.Tyr211Ser)
n.486A>C
12g.116019876T=CA2065393891MED13Lc.722A= (p.Tyr241=)
c.692A= (p.Tyr231=)
c.150A=
c.632A= (p.Tyr211=)
n.486A=
12g.116019877A>CCA386871105MED13Lc.721T>G (p.Tyr241Asp)
c.691T>G (p.Tyr231Asp)
c.149T>G
c.631T>G (p.Tyr211Asp)
n.485T>G
12g.116019877A>GCA386871103MED13Lc.721T>C (p.Tyr241His)
c.691T>C (p.Tyr231His)
c.149T>C
c.631T>C (p.Tyr211His)
n.485T>C
12g.116019877A>TCA386871100MED13Lc.721T>A (p.Tyr241Asn)
c.691T>A (p.Tyr231Asn)
c.149T>A
c.631T>A (p.Tyr211Asn)
n.485T>A
12g.116019878C>ACA386871107MED13Lc.720G>T (p.Gln240His)
c.690G>T (p.Gln230His)
c.148G>T
c.630G>T (p.Gln210His)
n.484G>T
12g.116019878C>GCA386871110MED13Lc.720G>C (p.Gln240His)
c.690G>C (p.Gln230His)
c.148G>C
c.630G>C (p.Gln210His)
n.484G>C
12g.116019878C>TCA481933510MED13Lc.720G>A (p.Gln240=)
c.690G>A (p.Gln230=)
c.148G>A
c.630G>A (p.Gln210=)
n.484G>A
 gnomAD v4
12g.116019879T>ACA386871113MED13Lc.719A>T (p.Gln240Leu)
c.689A>T (p.Gln230Leu)
c.147A>T
c.629A>T (p.Gln210Leu)
n.483A>T
12g.116019879T>CCA244127565MED13Lc.719A>G (p.Gln240Arg)
c.689A>G (p.Gln230Arg)
c.147A>G
c.629A>G (p.Gln210Arg)
n.483A>G
 dbSNP gnomAD v3 gnomAD v4
12g.116019879T>GCA386871118MED13Lc.719A>C (p.Gln240Pro)
c.689A>C (p.Gln230Pro)
c.147A>C
c.629A>C (p.Gln210Pro)
n.483A>C
12g.116019879T=CA2065393897MED13Lc.719A= (p.Gln240=)
c.689A= (p.Gln230=)
c.147A=
c.629A= (p.Gln210=)
n.483A=
12g.116019880G>ACA386871122MED13Lc.718C>T (p.Gln240Ter)
c.688C>T (p.Gln230Ter)
c.146C>T
c.628C>T (p.Gln210Ter)
n.482C>T
12g.116019880G>CCA386871125MED13Lc.718C>G (p.Gln240Glu)
c.688C>G (p.Gln230Glu)
c.146C>G
c.628C>G (p.Gln210Glu)
n.482C>G
12g.116019880G=CA2065393902MED13Lc.718C= (p.Gln240=)
c.688C= (p.Gln230=)
c.146C=
c.628C= (p.Gln210=)
n.482C=
12g.116019880G>TCA6811590MED13Lc.718C>A (p.Gln240Lys)
c.688C>A (p.Gln230Lys)
c.146C>A
c.628C>A (p.Gln210Lys)
n.482C>A
 dbSNP ExAC gnomAD v2
12g.116019881C>ACA386871129MED13Lc.717G>T (p.Trp239Cys)
c.687G>T (p.Trp229Cys)
c.145G>T
c.627G>T (p.Trp209Cys)
n.481G>T
12g.116019881C>GCA386871133MED13Lc.717G>C (p.Trp239Cys)
c.687G>C (p.Trp229Cys)
c.145G>C
c.627G>C (p.Trp209Cys)
n.481G>C
12g.116019881C>TCA386871136MED13Lc.717G>A (p.Trp239Ter)
c.687G>A (p.Trp229Ter)
c.145G>A
c.627G>A (p.Trp209Ter)
n.481G>A
12g.116019882C>ACA386871140MED13Lc.716G>T (p.Trp239Leu)
c.686G>T (p.Trp229Leu)
c.144G>T
c.626G>T (p.Trp209Leu)
n.480G>T
12g.116019882C>GCA386871142MED13Lc.716G>C (p.Trp239Ser)
c.686G>C (p.Trp229Ser)
c.144G>C
c.626G>C (p.Trp209Ser)
n.480G>C
12g.116019882C>TCA386871143MED13Lc.716G>A (p.Trp239Ter)
c.686G>A (p.Trp229Ter)
c.144G>A
c.626G>A (p.Trp209Ter)
n.480G>A
12g.116019883A>CCA386871145MED13Lc.715T>G (p.Trp239Gly)
c.685T>G (p.Trp229Gly)
c.143T>G
c.625T>G (p.Trp209Gly)
n.479T>G
12g.116019883A>GCA386871148MED13Lc.715T>C (p.Trp239Arg)
c.685T>C (p.Trp229Arg)
c.143T>C
c.625T>C (p.Trp209Arg)
n.479T>C
12g.116019883A>TCA386871144MED13Lc.715T>A (p.Trp239Arg)
c.685T>A (p.Trp229Arg)
c.143T>A
c.625T>A (p.Trp209Arg)
n.479T>A
12g.116019884T>ACA386871150MED13Lc.714A>T (p.Glu238Asp)
c.684A>T (p.Glu228Asp)
c.142A>T
c.624A>T (p.Glu208Asp)
n.478A>T
12g.116019884T>CCA481933511MED13Lc.714A>G (p.Glu238=)
c.684A>G (p.Glu228=)
c.142A>G
c.624A>G (p.Glu208=)
n.478A>G
 gnomAD v4
12g.116019884T>GCA386871152MED13Lc.714A>C (p.Glu238Asp)
c.684A>C (p.Glu228Asp)
c.142A>C
c.624A>C (p.Glu208Asp)
n.478A>C
12g.116019885T>ACA386871156MED13Lc.713A>T (p.Glu238Val)
c.683A>T (p.Glu228Val)
c.141A>T
c.623A>T (p.Glu208Val)
n.477A>T
12g.116019885T>CCA386871158MED13Lc.713A>G (p.Glu238Gly)
c.683A>G (p.Glu228Gly)
c.141A>G
c.623A>G (p.Glu208Gly)
n.477A>G
12g.116019885T>GCA386871160MED13Lc.713A>C (p.Glu238Ala)
c.683A>C (p.Glu228Ala)
c.141A>C
c.623A>C (p.Glu208Ala)
n.477A>C
12g.116019886C>ACA386871164MED13Lc.712G>T (p.Glu238Ter)
c.682G>T (p.Glu228Ter)
c.140G>T
c.622G>T (p.Glu208Ter)
n.476G>T
 ClinVar dbSNP
12g.116019886C=CA2065393907MED13Lc.712G= (p.Glu238=)
c.682G= (p.Glu228=)
c.140G=
c.622G= (p.Glu208=)
n.476G=
12g.116019886C>GCA386871166MED13Lc.712G>C (p.Glu238Gln)
c.682G>C (p.Glu228Gln)
c.140G>C
c.622G>C (p.Glu208Gln)
n.476G>C
12g.116019886C>TCA386871169MED13Lc.712G>A (p.Glu238Lys)
c.682G>A (p.Glu228Lys)
c.140G>A
c.622G>A (p.Glu208Lys)
n.476G>A
12g.116019887C>ACA386871172MED13Lc.711G>T (p.Glu237Asp)
c.681G>T (p.Glu227Asp)
c.139G>T
c.621G>T (p.Glu207Asp)
n.475G>T
12g.116019887C=CA2065393913MED13Lc.711G= (p.Glu237=)
c.681G= (p.Glu227=)
c.139G=
c.621G= (p.Glu207=)
n.475G=
12g.116019887C>GCA386871174MED13Lc.711G>C (p.Glu237Asp)
c.681G>C (p.Glu227Asp)
c.139G>C
c.621G>C (p.Glu207Asp)
n.475G>C
 gnomAD v4
12g.116019887C>TCA6811591MED13Lc.711G>A (p.Glu237=)
c.681G>A (p.Glu227=)
c.139G>A
c.621G>A (p.Glu207=)
n.475G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116019888T>ACA386871184MED13Lc.710A>T (p.Glu237Val)
c.680A>T (p.Glu227Val)
c.138A>T
c.620A>T (p.Glu207Val)
n.474A>T
12g.116019888T>CCA386871181MED13Lc.710A>G (p.Glu237Gly)
c.680A>G (p.Glu227Gly)
c.138A>G
c.620A>G (p.Glu207Gly)
n.474A>G
12g.116019888T>GCA386871179MED13Lc.710A>C (p.Glu237Ala)
c.680A>C (p.Glu227Ala)
c.138A>C
c.620A>C (p.Glu207Ala)
n.474A>C
12g.116019889C>ACA386871188MED13Lc.709G>T (p.Glu237Ter)
c.679G>T (p.Glu227Ter)
c.137G>T
c.619G>T (p.Glu207Ter)
n.473G>T
12g.116019889C>GCA386871191MED13Lc.709G>C (p.Glu237Gln)
c.679G>C (p.Glu227Gln)
c.137G>C
c.619G>C (p.Glu207Gln)
n.473G>C
12g.116019889C>TCA386871193MED13Lc.709G>A (p.Glu237Lys)
c.679G>A (p.Glu227Lys)
c.137G>A
c.619G>A (p.Glu207Lys)
n.473G>A
12g.116019890A>CCA386871196MED13Lc.708T>G (p.Ile236Met)
c.678T>G (p.Ile226Met)
c.136T>G
c.618T>G (p.Ile206Met)
n.472T>G
12g.116019890A>GCA481933512MED13Lc.708T>C (p.Ile236=)
c.678T>C (p.Ile226=)
c.136T>C
c.618T>C (p.Ile206=)
n.472T>C
12g.116019890A>TCA481933513MED13Lc.708T>A (p.Ile236=)
c.678T>A (p.Ile226=)
c.136T>A
c.618T>A (p.Ile206=)
n.472T>A
12g.116019891A>CCA386871199MED13Lc.707T>G (p.Ile236Ser)
c.677T>G (p.Ile226Ser)
c.135T>G
c.617T>G (p.Ile206Ser)
n.471T>G
12g.116019891A>GCA386871201MED13Lc.707T>C (p.Ile236Thr)
c.677T>C (p.Ile226Thr)
c.135T>C
c.617T>C (p.Ile206Thr)
n.471T>C
12g.116019891A>TCA386871202MED13Lc.707T>A (p.Ile236Asn)
c.677T>A (p.Ile226Asn)
c.135T>A
c.617T>A (p.Ile206Asn)
n.471T>A
12g.116019892T>ACA386871206MED13Lc.706A>T (p.Ile236Phe)
c.676A>T (p.Ile226Phe)
c.134A>T
c.616A>T (p.Ile206Phe)
n.470A>T
12g.116019892T>CCA386871207MED13Lc.706A>G (p.Ile236Val)
c.676A>G (p.Ile226Val)
c.134A>G
c.616A>G (p.Ile206Val)
n.470A>G
 gnomAD v4
12g.116019892T>GCA386871210MED13Lc.706A>C (p.Ile236Leu)
c.676A>C (p.Ile226Leu)
c.134A>C
c.616A>C (p.Ile206Leu)
n.470A>C
12g.116019893C>ACA386871213MED13Lc.705G>T (p.Leu235Phe)
c.675G>T (p.Leu225Phe)
c.133G>T
c.615G>T (p.Leu205Phe)
n.469G>T
12g.116019893C>GCA386871215MED13Lc.705G>C (p.Leu235Phe)
c.675G>C (p.Leu225Phe)
c.133G>C
c.615G>C (p.Leu205Phe)
n.469G>C
12g.116019893C>TCA481933514MED13Lc.705G>A (p.Leu235=)
c.675G>A (p.Leu225=)
c.133G>A
c.615G>A (p.Leu205=)
n.469G>A
12g.116019894A>CCA386871224MED13Lc.704T>G (p.Leu235Trp)
c.674T>G (p.Leu225Trp)
c.132T>G
c.614T>G (p.Leu205Trp)
n.468T>G
12g.116019894A>GCA386871222MED13Lc.704T>C (p.Leu235Ser)
c.674T>C (p.Leu225Ser)
c.132T>C
c.614T>C (p.Leu205Ser)
n.468T>C
12g.116019894A>TCA386871219MED13Lc.704T>A (p.Leu235Ter)
c.674T>A (p.Leu225Ter)
c.132T>A
c.614T>A (p.Leu205Ter)
n.468T>A
12g.116019895A>CCA386871228MED13Lc.703T>G (p.Leu235Val)
c.673T>G (p.Leu225Val)
c.131T>G
c.613T>G (p.Leu205Val)
n.467T>G
 gnomAD v4
12g.116019895A>GCA481933515MED13Lc.703T>C (p.Leu235=)
c.673T>C (p.Leu225=)
c.131T>C
c.613T>C (p.Leu205=)
n.467T>C
12g.116019895A>TCA386871230MED13Lc.703T>A (p.Leu235Met)
c.673T>A (p.Leu225Met)
c.131T>A
c.613T>A (p.Leu205Met)
n.467T>A
12g.116019896C>ACA386871233MED13Lc.702G>T (p.Lys234Asn)
c.672G>T (p.Lys224Asn)
c.130G>T
c.612G>T (p.Lys204Asn)
n.466G>T
12g.116019896C>GCA386871236MED13Lc.702G>C (p.Lys234Asn)
c.672G>C (p.Lys224Asn)
c.130G>C
c.612G>C (p.Lys204Asn)
n.466G>C
12g.116019896C>TCA481933516MED13Lc.702G>A (p.Lys234=)
c.672G>A (p.Lys224=)
c.130G>A
c.612G>A (p.Lys204=)
n.466G>A
 gnomAD v4
12g.116019897T>ACA386871239MED13Lc.701A>T (p.Lys234Met)
c.671A>T (p.Lys224Met)
c.129A>T
c.611A>T (p.Lys204Met)
n.465A>T
12g.116019897T>CCA386871241MED13Lc.701A>G (p.Lys234Arg)
c.671A>G (p.Lys224Arg)
c.129A>G
c.611A>G (p.Lys204Arg)
n.465A>G
12g.116019897T>GCA386871244MED13Lc.701A>C (p.Lys234Thr)
c.671A>C (p.Lys224Thr)
c.129A>C
c.611A>C (p.Lys204Thr)
n.465A>C
 COSMIC
12g.116019898T>ACA386871247MED13Lc.700A>T (p.Lys234Ter)
c.670A>T (p.Lys224Ter)
c.128A>T
c.610A>T (p.Lys204Ter)
n.464A>T
12g.116019898T>CCA386871249MED13Lc.700A>G (p.Lys234Glu)
c.670A>G (p.Lys224Glu)
c.128A>G
c.610A>G (p.Lys204Glu)
n.464A>G
12g.116019898T>GCA386871251MED13Lc.700A>C (p.Lys234Gln)
c.670A>C (p.Lys224Gln)
c.128A>C
c.610A>C (p.Lys204Gln)
n.464A>C
12g.116019899A=CA2065393920MED13Lc.699T= (p.Arg233=)
c.669T= (p.Arg223=)
c.127T=
c.609T= (p.Arg203=)
n.463T=
12g.116019899A>CCA481933517MED13Lc.699T>G (p.Arg233=)
c.669T>G (p.Arg223=)
c.127T>G
c.609T>G (p.Arg203=)
n.463T>G
12g.116019899A>GCA6811592MED13Lc.699T>C (p.Arg233=)
c.669T>C (p.Arg223=)
c.127T>C
c.609T>C (p.Arg203=)
n.463T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116019899A>TCA481933518MED13Lc.699T>A (p.Arg233=)
c.669T>A (p.Arg223=)
c.127T>A
c.609T>A (p.Arg203=)
n.463T>A
12g.116019900C>ACA386871257MED13Lc.698G>T (p.Arg233Leu)
c.668G>T (p.Arg223Leu)
c.126G>T
c.608G>T (p.Arg203Leu)
n.462G>T
 ClinVar gnomAD v4
12g.116019900C=CA2065393925MED13Lc.698G= (p.Arg233=)
c.668G= (p.Arg223=)
c.126G=
c.608G= (p.Arg203=)
n.462G=
12g.116019900C>GCA386871260MED13Lc.698G>C (p.Arg233Pro)
c.668G>C (p.Arg223Pro)
c.126G>C
c.608G>C (p.Arg203Pro)
n.462G>C
12g.116019900C>TCA244127594MED13Lc.698G>A (p.Arg233His)
c.668G>A (p.Arg223His)
c.126G>A
c.608G>A (p.Arg203His)
n.462G>A
 dbSNP gnomAD v2 gnomAD v4
12g.116019901G>ACA6811593MED13Lc.697C>T (p.Arg233Cys)
c.667C>T (p.Arg223Cys)
c.125C>T
c.607C>T (p.Arg203Cys)
n.461C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.116019901G>CCA6811594MED13Lc.697C>G (p.Arg233Gly)
c.667C>G (p.Arg223Gly)
c.125C>G
c.607C>G (p.Arg203Gly)
n.461C>G
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.116019901G=CA2065393938MED13Lc.697C= (p.Arg233=)
c.667C= (p.Arg223=)
c.125C=
c.607C= (p.Arg203=)
n.461C=
12g.116019901G>TCA386871266MED13Lc.697C>A (p.Arg233Ser)
c.667C>A (p.Arg223Ser)
c.125C>A
c.607C>A (p.Arg203Ser)
n.461C>A
 COSMIC
12g.116019902A>CCA481933519MED13Lc.696T>G (p.Thr232=)
c.666T>G (p.Thr222=)
c.124T>G
c.606T>G (p.Thr202=)
n.460T>G
12g.116019902A>GCA481933520MED13Lc.696T>C (p.Thr232=)
c.666T>C (p.Thr222=)
c.124T>C
c.606T>C (p.Thr202=)
n.460T>C
12g.116019902A>TCA481933521MED13Lc.696T>A (p.Thr232=)
c.666T>A (p.Thr222=)
c.124T>A
c.606T>A (p.Thr202=)
n.460T>A
12g.116019903G>ACA386871273MED13Lc.695C>T (p.Thr232Ile)
c.665C>T (p.Thr222Ile)
c.123C>T
c.605C>T (p.Thr202Ile)
n.459C>T
12g.116019903G>CCA386871275MED13Lc.695C>G (p.Thr232Ser)
c.665C>G (p.Thr222Ser)
c.123C>G
c.605C>G (p.Thr202Ser)
n.459C>G
12g.116019903G>TCA386871277MED13Lc.695C>A (p.Thr232Asn)
c.665C>A (p.Thr222Asn)
c.123C>A
c.605C>A (p.Thr202Asn)
n.459C>A
12g.116019904T>ACA386871280MED13Lc.694A>T (p.Thr232Ser)
c.664A>T (p.Thr222Ser)
c.122A>T
c.604A>T (p.Thr202Ser)
n.458A>T
12g.116019904T>CCA6811595MED13Lc.694A>G (p.Thr232Ala)
c.664A>G (p.Thr222Ala)
c.122A>G
c.604A>G (p.Thr202Ala)
n.458A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116019904T>GCA386871283MED13Lc.694A>C (p.Thr232Pro)
c.664A>C (p.Thr222Pro)
c.122A>C
c.604A>C (p.Thr202Pro)
n.458A>C
12g.116019904T=CA2065393964MED13Lc.694A= (p.Thr232=)
c.664A= (p.Thr222=)
c.122A=
c.604A= (p.Thr202=)
n.458A=
12g.116019905G>ACA481933522MED13Lc.693C>T (p.Ala231=)
c.663C>T (p.Ala221=)
c.121C>T
c.603C>T (p.Ala201=)
n.457C>T
 gnomAD v4
12g.116019905G>CCA481933523MED13Lc.693C>G (p.Ala231=)
c.663C>G (p.Ala221=)
c.121C>G
c.603C>G (p.Ala201=)
n.457C>G
12g.116019905G>TCA481933524MED13Lc.693C>A (p.Ala231=)
c.663C>A (p.Ala221=)
c.121C>A
c.603C>A (p.Ala201=)
n.457C>A
12g.116019906G>ACA386871287MED13Lc.692C>T (p.Ala231Val)
c.662C>T (p.Ala221Val)
c.120C>T
c.602C>T (p.Ala201Val)
n.456C>T
12g.116019906G>CCA386871288MED13Lc.692C>G (p.Ala231Gly)
c.662C>G (p.Ala221Gly)
c.120C>G
c.602C>G (p.Ala201Gly)
n.456C>G
 gnomAD v4
12g.116019906G>TCA386871290MED13Lc.692C>A (p.Ala231Asp)
c.662C>A (p.Ala221Asp)
c.120C>A
c.602C>A (p.Ala201Asp)
n.456C>A
12g.116019907C>ACA386871293MED13Lc.691G>T (p.Ala231Ser)
c.661G>T (p.Ala221Ser)
c.119G>T
c.601G>T (p.Ala201Ser)
n.455G>T
12g.116019907C>GCA386871296MED13Lc.691G>C (p.Ala231Pro)
c.661G>C (p.Ala221Pro)
c.119G>C
c.601G>C (p.Ala201Pro)
n.455G>C
12g.116019907C>TCA386871298MED13Lc.691G>A (p.Ala231Thr)
c.661G>A (p.Ala221Thr)
c.119G>A
c.601G>A (p.Ala201Thr)
n.455G>A
12g.116019908T>ACA481933525MED13Lc.690A>T (p.Pro230=)
c.660A>T (p.Pro220=)
c.118A>T
c.600A>T (p.Pro200=)
n.454A>T
 gnomAD v4
12g.116019908T>CCA481933526MED13Lc.690A>G (p.Pro230=)
c.660A>G (p.Pro220=)
c.118A>G
c.600A>G (p.Pro200=)
n.454A>G
 ClinVar dbSNP
12g.116019908T>GCA481933527MED13Lc.690A>C (p.Pro230=)
c.660A>C (p.Pro220=)
c.118A>C
c.600A>C (p.Pro200=)
n.454A>C
12g.116019908T=CA2065393976MED13Lc.690A= (p.Pro230=)
c.660A= (p.Pro220=)
c.118A=
c.600A= (p.Pro200=)
n.454A=
12g.116019909G>ACA386871306MED13Lc.689C>T (p.Pro230Leu)
c.659C>T (p.Pro220Leu)
c.117C>T
c.599C>T (p.Pro200Leu)
n.453C>T
12g.116019909G>CCA386871303MED13Lc.689C>G (p.Pro230Arg)
c.659C>G (p.Pro220Arg)
c.117C>G
c.599C>G (p.Pro200Arg)
n.453C>G
 dbSNP gnomAD v2 gnomAD v4
12g.116019909G=CA2065393984MED13Lc.689C= (p.Pro230=)
c.659C= (p.Pro220=)
c.117C=
c.599C= (p.Pro200=)
n.453C=
12g.116019909G>TCA386871300MED13Lc.689C>A (p.Pro230Gln)
c.659C>A (p.Pro220Gln)
c.117C>A
c.599C>A (p.Pro200Gln)
n.453C>A
12g.116019910G>ACA386871309MED13Lc.688C>T (p.Pro230Ser)
c.658C>T (p.Pro220Ser)
c.116C>T
c.598C>T (p.Pro200Ser)
n.452C>T
12g.116019910G>CCA386871312MED13Lc.688C>G (p.Pro230Ala)
c.658C>G (p.Pro220Ala)
c.116C>G
c.598C>G (p.Pro200Ala)
n.452C>G
12g.116019910G>TCA386871314MED13Lc.688C>A (p.Pro230Thr)
c.658C>A (p.Pro220Thr)
c.116C>A
c.598C>A (p.Pro200Thr)
n.452C>A
12g.116019911G>ACA481933528MED13Lc.687C>T (p.Asp229=)
c.657C>T (p.Asp219=)
c.115C>T
c.597C>T (p.Asp199=)
n.451C>T
12g.116019911G>CCA386871317MED13Lc.687C>G (p.Asp229Glu)
c.657C>G (p.Asp219Glu)
c.115C>G
c.597C>G (p.Asp199Glu)
n.451C>G
12g.116019911G>TCA386871319MED13Lc.687C>A (p.Asp229Glu)
c.657C>A (p.Asp219Glu)
c.115C>A
c.597C>A (p.Asp199Glu)
n.451C>A
12g.116019912T>ACA386871328MED13Lc.686A>T (p.Asp229Val)
c.656A>T (p.Asp219Val)
c.114A>T
c.596A>T (p.Asp199Val)
n.450A>T
12g.116019912T>CCA386871325MED13Lc.686A>G (p.Asp229Gly)
c.656A>G (p.Asp219Gly)
c.114A>G
c.596A>G (p.Asp199Gly)
n.450A>G
 gnomAD v4
12g.116019912T>GCA386871323MED13Lc.686A>C (p.Asp229Ala)
c.656A>C (p.Asp219Ala)
c.114A>C
c.596A>C (p.Asp199Ala)
n.450A>C
 dbSNP
12g.116019912T=CA2065393988MED13Lc.686A= (p.Asp229=)
c.656A= (p.Asp219=)
c.114A=
c.596A= (p.Asp199=)
n.450A=
12g.116019913C>ACA386871332MED13Lc.685G>T (p.Asp229Tyr)
c.655G>T (p.Asp219Tyr)
c.113G>T
c.595G>T (p.Asp199Tyr)
n.449G>T
12g.116019913C>GCA386871334MED13Lc.685G>C (p.Asp229His)
c.655G>C (p.Asp219His)
c.113G>C
c.595G>C (p.Asp199His)
n.449G>C
12g.116019913C>TCA386871336MED13Lc.685G>A (p.Asp229Asn)
c.655G>A (p.Asp219Asn)
c.113G>A
c.595G>A (p.Asp199Asn)
n.449G>A
12g.116019914T>ACA481933529MED13Lc.684A>T (p.Ser228=)
c.654A>T (p.Ser218=)
c.112A>T
c.594A>T (p.Ser198=)
n.448A>T
12g.116019914T>CCA481933530MED13Lc.684A>G (p.Ser228=)
c.654A>G (p.Ser218=)
c.112A>G
c.594A>G (p.Ser198=)
n.448A>G
12g.116019914T>GCA481933531MED13Lc.684A>C (p.Ser228=)
c.654A>C (p.Ser218=)
c.112A>C
c.594A>C (p.Ser198=)
n.448A>C
12g.116019915G>ACA386871339MED13Lc.683C>T (p.Ser228Leu)
c.653C>T (p.Ser218Leu)
c.111C>T
c.593C>T (p.Ser198Leu)
n.447C>T
12g.116019915G>CCA386871340MED13Lc.683C>G (p.Ser228Ter)
c.653C>G (p.Ser218Ter)
c.111C>G
c.593C>G (p.Ser198Ter)
n.447C>G
12g.116019915G>TCA386871342MED13Lc.683C>A (p.Ser228Ter)
c.653C>A (p.Ser218Ter)
c.111C>A
c.593C>A (p.Ser198Ter)
n.447C>A
12g.116019916A=CA2065393994MED13Lc.682T= (p.Ser228=)
c.652T= (p.Ser218=)
c.110T=
c.592T= (p.Ser198=)
n.446T=
12g.116019916A>CCA386871344MED13Lc.682T>G (p.Ser228Ala)
c.652T>G (p.Ser218Ala)
c.110T>G
c.592T>G (p.Ser198Ala)
n.446T>G
 ClinVar dbSNP
12g.116019916A>GCA386871348MED13Lc.682T>C (p.Ser228Pro)
c.652T>C (p.Ser218Pro)
c.110T>C
c.592T>C (p.Ser198Pro)
n.446T>C
12g.116019916A>TCA386871346MED13Lc.682T>A (p.Ser228Thr)
c.652T>A (p.Ser218Thr)
c.110T>A
c.592T>A (p.Ser198Thr)
n.446T>A
12g.116019916_116019917delinsCACA2697551533MED13Lc.681_682delinsTG (p.Met227_Ser228delinsIleAla)
c.651_652delinsTG (p.Met217_Ser218delinsIleAla)
c.109_110delinsTG
c.591_592delinsTG (p.Met197_Ser198delinsIleAla)
n.445_446delinsTG
 ClinVar
12g.116019917C>ACA386871350MED13Lc.681G>T (p.Met227Ile)
c.651G>T (p.Met217Ile)
c.109G>T
c.591G>T (p.Met197Ile)
n.445G>T
 ClinVar dbSNP
12g.116019917C=CA2065393998MED13Lc.681G= (p.Met227=)
c.651G= (p.Met217=)
c.109G=
c.591G= (p.Met197=)
n.445G=
12g.116019917C>GCA386871352MED13Lc.681G>C (p.Met227Ile)
c.651G>C (p.Met217Ile)
c.109G>C
c.591G>C (p.Met197Ile)
n.445G>C
12g.116019917C>TCA6811596MED13Lc.681G>A (p.Met227Ile)
c.651G>A (p.Met217Ile)
c.109G>A
c.591G>A (p.Met197Ile)
n.445G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116019918A=CA2065394003MED13Lc.680T= (p.Met227=)
c.650T= (p.Met217=)
c.108T=
c.590T= (p.Met197=)
n.444T=
12g.116019918A>CCA386871358MED13Lc.680T>G (p.Met227Arg)
c.650T>G (p.Met217Arg)
c.108T>G
c.590T>G (p.Met197Arg)
n.444T>G
12g.116019918A>GCA386871360MED13Lc.680T>C (p.Met227Thr)
c.650T>C (p.Met217Thr)
c.108T>C
c.590T>C (p.Met197Thr)
n.444T>C
 dbSNP gnomAD v3 gnomAD v4
12g.116019918A>TCA386871363MED13Lc.680T>A (p.Met227Lys)
c.650T>A (p.Met217Lys)
c.108T>A
c.590T>A (p.Met197Lys)
n.444T>A
12g.116019919T>ACA386871366MED13Lc.679A>T (p.Met227Leu)
c.649A>T (p.Met217Leu)
c.107A>T
c.589A>T (p.Met197Leu)
n.443A>T
12g.116019919T>CCA386871367MED13Lc.679A>G (p.Met227Val)
c.649A>G (p.Met217Val)
c.107A>G
c.589A>G (p.Met197Val)
n.443A>G
12g.116019919T>GCA386871369MED13Lc.679A>C (p.Met227Leu)
c.649A>C (p.Met217Leu)
c.107A>C
c.589A>C (p.Met197Leu)
n.443A>C
12g.116019920C>ACA386871373MED13Lc.678G>T (p.Lys226Asn)
c.648G>T (p.Lys216Asn)
c.106G>T
c.588G>T (p.Lys196Asn)
n.442G>T
12g.116019920C>GCA386871375MED13Lc.678G>C (p.Lys226Asn)
c.648G>C (p.Lys216Asn)
c.106G>C
c.588G>C (p.Lys196Asn)
n.442G>C
12g.116019920C>TCA481933532MED13Lc.678G>A (p.Lys226=)
c.648G>A (p.Lys216=)
c.106G>A
c.588G>A (p.Lys196=)
n.442G>A
12g.116019921T>ACA386871384MED13Lc.677A>T (p.Lys226Met)
c.647A>T (p.Lys216Met)
c.105A>T
c.587A>T (p.Lys196Met)
n.441A>T
12g.116019921T>CCA386871381MED13Lc.677A>G (p.Lys226Arg)
c.647A>G (p.Lys216Arg)
c.105A>G
c.587A>G (p.Lys196Arg)
n.441A>G
12g.116019921T>GCA386871379MED13Lc.677A>C (p.Lys226Thr)
c.647A>C (p.Lys216Thr)
c.105A>C
c.587A>C (p.Lys196Thr)
n.441A>C
12g.116019922T>ACA386871389MED13Lc.676A>T (p.Lys226Ter)
c.646A>T (p.Lys216Ter)
c.104A>T
c.586A>T (p.Lys196Ter)
n.440A>T
12g.116019922T>CCA386871394MED13Lc.676A>G (p.Lys226Glu)
c.646A>G (p.Lys216Glu)
c.104A>G
c.586A>G (p.Lys196Glu)
n.440A>G
 dbSNP gnomAD v3 gnomAD v4
12g.116019922T>GCA386871391MED13Lc.676A>C (p.Lys226Gln)
c.646A>C (p.Lys216Gln)
c.104A>C
c.586A>C (p.Lys196Gln)
n.440A>C
12g.116019922T=CA2065394006MED13Lc.676A= (p.Lys226=)
c.646A= (p.Lys216=)
c.104A=
c.586A= (p.Lys196=)
n.440A=
12g.116019923G>ACA481933533MED13Lc.675C>T (p.Tyr225=)
c.645C>T (p.Tyr215=)
c.103C>T
c.585C>T (p.Tyr195=)
n.439C>T
12g.116019923G>CCA386871399MED13Lc.675C>G (p.Tyr225Ter)
c.645C>G (p.Tyr215Ter)
c.103C>G
c.585C>G (p.Tyr195Ter)
n.439C>G
12g.116019923G>TCA386871402MED13Lc.675C>A (p.Tyr225Ter)
c.645C>A (p.Tyr215Ter)
c.103C>A
c.585C>A (p.Tyr195Ter)
n.439C>A
12g.116019924T>ACA6811597MED13Lc.674A>T (p.Tyr225Phe)
c.644A>T (p.Tyr215Phe)
c.102A>T
c.584A>T (p.Tyr195Phe)
n.438A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116019924T>CCA244127647MED13Lc.674A>G (p.Tyr225Cys)
c.644A>G (p.Tyr215Cys)
c.102A>G
c.584A>G (p.Tyr195Cys)
n.438A>G
 dbSNP
12g.116019924T>GCA386871410MED13Lc.674A>C (p.Tyr225Ser)
c.644A>C (p.Tyr215Ser)
c.102A>C
c.584A>C (p.Tyr195Ser)
n.438A>C
12g.116019924T=CA2065394011MED13Lc.674A= (p.Tyr225=)
c.644A= (p.Tyr215=)
c.102A=
c.584A= (p.Tyr195=)
n.438A=
12g.116019925A>CCA386871414MED13Lc.673T>G (p.Tyr225Asp)
c.643T>G (p.Tyr215Asp)
c.101T>G
c.583T>G (p.Tyr195Asp)
n.437T>G
12g.116019925A>GCA386871417MED13Lc.673T>C (p.Tyr225His)
c.643T>C (p.Tyr215His)
c.101T>C
c.583T>C (p.Tyr195His)
n.437T>C
12g.116019925A>TCA386871419MED13Lc.673T>A (p.Tyr225Asn)
c.643T>A (p.Tyr215Asn)
c.101T>A
c.583T>A (p.Tyr195Asn)
n.437T>A
12g.116019926T>ACA6811598MED13Lc.672A>T (p.Ala224=)
c.642A>T (p.Ala214=)
c.100A>T
c.582A>T (p.Ala194=)
n.436A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116019926T>CCA6811599MED13Lc.672A>G (p.Ala224=)
c.642A>G (p.Ala214=)
c.100A>G
c.582A>G (p.Ala194=)
n.436A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.116019926T>GCA481933534MED13Lc.672A>C (p.Ala224=)
c.642A>C (p.Ala214=)
c.100A>C
c.582A>C (p.Ala194=)
n.436A>C
12g.116019926T=CA2065394022MED13Lc.672A= (p.Ala224=)
c.642A= (p.Ala214=)
c.100A=
c.582A= (p.Ala194=)
n.436A=
12g.116019927G>ACA386871431MED13Lc.671C>T (p.Ala224Val)
c.641C>T (p.Ala214Val)
c.99C>T
c.581C>T (p.Ala194Val)
n.435C>T
12g.116019927G>CCA386871434MED13Lc.671C>G (p.Ala224Gly)
c.641C>G (p.Ala214Gly)
c.99C>G
c.581C>G (p.Ala194Gly)
n.435C>G
12g.116019927G>TCA386871437MED13Lc.671C>A (p.Ala224Glu)
c.641C>A (p.Ala214Glu)
c.99C>A
c.581C>A (p.Ala194Glu)
n.435C>A
12g.116019928C>ACA386871447MED13Lc.670G>T (p.Ala224Ser)
c.640G>T (p.Ala214Ser)
c.98G>T
c.580G>T (p.Ala194Ser)
n.434G>T
12g.116019928C=CA2065394024MED13Lc.670G= (p.Ala224=)
c.640G= (p.Ala214=)
c.98G=
c.580G= (p.Ala194=)
n.434G=
12g.116019928C>GCA386871444MED13Lc.670G>C (p.Ala224Pro)
c.640G>C (p.Ala214Pro)
c.98G>C
c.580G>C (p.Ala194Pro)
n.434G>C
12g.116019928C>TCA6811600MED13Lc.670G>A (p.Ala224Thr)
c.640G>A (p.Ala214Thr)
c.98G>A
c.580G>A (p.Ala194Thr)
n.434G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116019929T>ACA386871451MED13Lc.669A>T (p.Gln223His)
c.639A>T (p.Gln213His)
c.97A>T
c.579A>T (p.Gln193His)
n.433A>T
12g.116019929T>CCA481933535MED13Lc.669A>G (p.Gln223=)
c.639A>G (p.Gln213=)
c.97A>G
c.579A>G (p.Gln193=)
n.433A>G
 gnomAD v4
12g.116019929T>GCA386871454MED13Lc.669A>C (p.Gln223His)
c.639A>C (p.Gln213His)
c.97A>C
c.579A>C (p.Gln193His)
n.433A>C
 dbSNP gnomAD v3 gnomAD v4
12g.116019929T=CA2065394027MED13Lc.669A= (p.Gln223=)
c.639A= (p.Gln213=)
c.97A=
c.579A= (p.Gln193=)
n.433A=
12g.116019930T>ACA386871460MED13Lc.668A>T (p.Gln223Leu)
c.638A>T (p.Gln213Leu)
c.96A>T
c.578A>T (p.Gln193Leu)
n.432A>T
12g.116019930T>CCA386871463MED13Lc.668A>G (p.Gln223Arg)
c.638A>G (p.Gln213Arg)
c.96A>G
c.578A>G (p.Gln193Arg)
n.432A>G
 gnomAD v4
12g.116019930T>GCA386871467MED13Lc.668A>C (p.Gln223Pro)
c.638A>C (p.Gln213Pro)
c.96A>C
c.578A>C (p.Gln193Pro)
n.432A>C
12g.116019931G>ACA386871471MED13Lc.667C>T (p.Gln223Ter)
c.637C>T (p.Gln213Ter)
c.95C>T
c.577C>T (p.Gln193Ter)
n.431C>T
12g.116019931G>CCA386871475MED13Lc.667C>G (p.Gln223Glu)
c.637C>G (p.Gln213Glu)
c.95C>G
c.577C>G (p.Gln193Glu)
n.431C>G
12g.116019931G>TCA386871478MED13Lc.667C>A (p.Gln223Lys)
c.637C>A (p.Gln213Lys)
c.95C>A
c.577C>A (p.Gln193Lys)
n.431C>A
 COSMIC
12g.116019932G>ACA481933538MED13Lc.666C>T (p.Gly222=)
c.636C>T (p.Gly212=)
c.94C>T
c.576C>T (p.Gly192=)
n.430C>T
12g.116019932G>CCA481933537MED13Lc.666C>G (p.Gly222=)
c.636C>G (p.Gly212=)
c.94C>G
c.576C>G (p.Gly192=)
n.430C>G
12g.116019932G>TCA481933536MED13Lc.666C>A (p.Gly222=)
c.636C>A (p.Gly212=)
c.94C>A
c.576C>A (p.Gly192=)
n.430C>A
12g.116019933C>ACA386871479MED13Lc.665G>T (p.Gly222Val)
c.635G>T (p.Gly212Val)
c.93G>T
c.575G>T (p.Gly192Val)
n.429G>T
12g.116019933C>GCA386871480MED13Lc.665G>C (p.Gly222Ala)
c.635G>C (p.Gly212Ala)
c.93G>C
c.575G>C (p.Gly192Ala)
n.429G>C
12g.116019933C>TCA386871481MED13Lc.665G>A (p.Gly222Asp)
c.635G>A (p.Gly212Asp)
c.93G>A
c.575G>A (p.Gly192Asp)
n.429G>A
 gnomAD v4
12g.116019934C>ACA386871484MED13Lc.664G>T (p.Gly222Cys)
c.634G>T (p.Gly212Cys)
c.92G>T
c.574G>T (p.Gly192Cys)
n.428G>T
12g.116019934C>GCA386871483MED13Lc.664G>C (p.Gly222Arg)
c.634G>C (p.Gly212Arg)
c.92G>C
c.574G>C (p.Gly192Arg)
n.428G>C
12g.116019934C>TCA386871482MED13Lc.664G>A (p.Gly222Ser)
c.634G>A (p.Gly212Ser)
c.92G>A
c.574G>A (p.Gly192Ser)
n.428G>A
12g.116019935T>ACA481933539MED13Lc.663A>T (p.Thr221=)
c.633A>T (p.Thr211=)
c.91A>T
c.573A>T (p.Thr191=)
n.427A>T
12g.116019935T>CCA481933540MED13Lc.663A>G (p.Thr221=)
c.633A>G (p.Thr211=)
c.91A>G
c.573A>G (p.Thr191=)
n.427A>G
12g.116019935T>GCA481933541MED13Lc.663A>C (p.Thr221=)
c.633A>C (p.Thr211=)
c.91A>C
c.573A>C (p.Thr191=)
n.427A>C
12g.116019936G>ACA386871486MED13Lc.662C>T (p.Thr221Ile)
c.632C>T (p.Thr211Ile)
c.90C>T
c.572C>T (p.Thr191Ile)
n.426C>T
12g.116019936G>CCA386871488MED13Lc.662C>G (p.Thr221Arg)
c.632C>G (p.Thr211Arg)
c.90C>G
c.572C>G (p.Thr191Arg)
n.426C>G
12g.116019936G>TCA386871493MED13Lc.662C>A (p.Thr221Lys)
c.632C>A (p.Thr211Lys)
c.90C>A
c.572C>A (p.Thr191Lys)
n.426C>A
12g.116019937T>ACA386871497MED13Lc.661A>T (p.Thr221Ser)
c.631A>T (p.Thr211Ser)
c.89A>T
c.571A>T (p.Thr191Ser)
n.425A>T
 gnomAD v4
12g.116019937T>CCA386871501MED13Lc.661A>G (p.Thr221Ala)
c.631A>G (p.Thr211Ala)
c.89A>G
c.571A>G (p.Thr191Ala)
n.425A>G
12g.116019937T>GCA386871504MED13Lc.661A>C (p.Thr221Pro)
c.631A>C (p.Thr211Pro)
c.89A>C
c.571A>C (p.Thr191Pro)
n.425A>C
 gnomAD v4
12g.116019937T=CA2065394030MED13Lc.661A= (p.Thr221=)
c.631A= (p.Thr211=)
c.89A=
c.571A= (p.Thr191=)
n.425A=
12g.116019937_116019938insGGCA919181917MED13Lc.660_661insCC (p.Thr221ProfsTer16)
c.630_631insCC (p.Thr211ProfsTer16)
c.88_89insCC
c.570_571insCC (p.Thr191ProfsTer16)
n.424_425insCC
 dbSNP
12g.116019938T>ACA481933542MED13Lc.660A>T (p.Leu220=)
c.630A>T (p.Leu210=)
c.88A>T
c.570A>T (p.Leu190=)
n.424A>T
12g.116019938T>CCA6811601MED13Lc.660A>G (p.Leu220=)
c.630A>G (p.Leu210=)
c.88A>G
c.570A>G (p.Leu190=)
n.424A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116019938T>GCA481933543MED13Lc.660A>C (p.Leu220=)
c.630A>C (p.Leu210=)
c.88A>C
c.570A>C (p.Leu190=)
n.424A>C
 gnomAD v4
12g.116019938T=CA2065394036MED13Lc.660A= (p.Leu220=)
c.630A= (p.Leu210=)
c.88A=
c.570A= (p.Leu190=)
n.424A=
12g.116019939A=CA2065394042MED13Lc.659T= (p.Leu220=)
c.629T= (p.Leu210=)
c.87T=
c.569T= (p.Leu190=)
n.423T=
12g.116019939A>CCA386871511MED13Lc.659T>G (p.Leu220Arg)
c.629T>G (p.Leu210Arg)
c.87T>G
c.569T>G (p.Leu190Arg)
n.423T>G
12g.116019939A>GCA386871513MED13Lc.659T>C (p.Leu220Pro)
c.629T>C (p.Leu210Pro)
c.87T>C
c.569T>C (p.Leu190Pro)
n.423T>C
 dbSNP gnomAD v2 gnomAD v4
12g.116019939A>TCA386871517MED13Lc.659T>A (p.Leu220Gln)
c.629T>A (p.Leu210Gln)
c.87T>A
c.569T>A (p.Leu190Gln)
n.423T>A
12g.116019940G>ACA6811602MED13Lc.658C>T (p.Leu220=)
c.628C>T (p.Leu210=)
c.86C>T
c.568C>T (p.Leu190=)
n.422C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116019940G>CCA244127688MED13Lc.658C>G (p.Leu220Val)
c.628C>G (p.Leu210Val)
c.86C>G
c.568C>G (p.Leu190Val)
n.422C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116019940G=CA2065394046MED13Lc.658C= (p.Leu220=)
c.628C= (p.Leu210=)
c.86C=
c.568C= (p.Leu190=)
n.422C=
12g.116019940G>TCA386871552MED13Lc.658C>A (p.Leu220Ile)
c.628C>A (p.Leu210Ile)
c.86C>A
c.568C>A (p.Leu190Ile)
n.422C>A
12g.116019941C>ACA481933544MED13Lc.657G>T (p.Thr219=)
c.627G>T (p.Thr209=)
c.85G>T
c.567G>T (p.Thr189=)
n.421G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116019941C=CA2065394050MED13Lc.657G= (p.Thr219=)
c.627G= (p.Thr209=)
c.85G=
c.567G= (p.Thr189=)
n.421G=
12g.116019941C>GCA481933545MED13Lc.657G>C (p.Thr219=)
c.627G>C (p.Thr209=)
c.85G>C
c.567G>C (p.Thr189=)
n.421G>C
12g.116019941C>TCA481933546MED13Lc.657G>A (p.Thr219=)
c.627G>A (p.Thr209=)
c.85G>A
c.567G>A (p.Thr189=)
n.421G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116019942G>ACA6811603MED13Lc.656C>T (p.Thr219Met)
c.626C>T (p.Thr209Met)
c.84C>T
c.566C>T (p.Thr189Met)
n.420C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.116019942G>CCA386871564MED13Lc.656C>G (p.Thr219Arg)
c.626C>G (p.Thr209Arg)
c.84C>G
c.566C>G (p.Thr189Arg)
n.420C>G
12g.116019942G=CA2065394061MED13Lc.656C= (p.Thr219=)
c.626C= (p.Thr209=)
c.84C=
c.566C= (p.Thr189=)
n.420C=
12g.116019942G>TCA386871561MED13Lc.656C>A (p.Thr219Lys)
c.626C>A (p.Thr209Lys)
c.84C>A
c.566C>A (p.Thr189Lys)
n.420C>A
12g.116019943T>ACA386871568MED13Lc.655A>T (p.Thr219Ser)
c.625A>T (p.Thr209Ser)
c.83A>T
c.565A>T (p.Thr189Ser)
n.419A>T
12g.116019943T>CCA386871571MED13Lc.655A>G (p.Thr219Ala)
c.625A>G (p.Thr209Ala)
c.83A>G
c.565A>G (p.Thr189Ala)
n.419A>G
12g.116019943T>GCA386871575MED13Lc.655A>C (p.Thr219Pro)
c.625A>C (p.Thr209Pro)
c.83A>C
c.565A>C (p.Thr189Pro)
n.419A>C
12g.116019944C>ACA481933547MED13Lc.654G>T (p.Gly218=)
c.624G>T (p.Gly208=)
c.82G>T
c.564G>T (p.Gly188=)
n.418G>T
12g.116019944C>GCA481933548MED13Lc.654G>C (p.Gly218=)
c.624G>C (p.Gly208=)
c.82G>C
c.564G>C (p.Gly188=)
n.418G>C
12g.116019944C>TCA481933549MED13Lc.654G>A (p.Gly218=)
c.624G>A (p.Gly208=)
c.82G>A
c.564G>A (p.Gly188=)
n.418G>A
12g.116019945C>ACA386871577MED13Lc.653G>T (p.Gly218Val)
c.623G>T (p.Gly208Val)
c.81G>T
c.563G>T (p.Gly188Val)
n.417G>T
12g.116019945C>GCA386871578MED13Lc.653G>C (p.Gly218Ala)
c.623G>C (p.Gly208Ala)
c.81G>C
c.563G>C (p.Gly188Ala)
n.417G>C
12g.116019945C>TCA386871582MED13Lc.653G>A (p.Gly218Glu)
c.623G>A (p.Gly208Glu)
c.81G>A
c.563G>A (p.Gly188Glu)
n.417G>A
12g.116019946C>ACA386871587MED13Lc.652G>T (p.Gly218Trp)
c.622G>T (p.Gly208Trp)
c.80G>T
c.562G>T (p.Gly188Trp)
n.416G>T
12g.116019946C=CA2065394067MED13Lc.652G= (p.Gly218=)
c.622G= (p.Gly208=)
c.80G=
c.562G= (p.Gly188=)
n.416G=
12g.116019946C>GCA386871589MED13Lc.652G>C (p.Gly218Arg)
c.622G>C (p.Gly208Arg)
c.80G>C
c.562G>C (p.Gly188Arg)
n.416G>C
12g.116019946C>TCA244127702MED13Lc.652G>A (p.Gly218Arg)
c.622G>A (p.Gly208Arg)
c.80G>A
c.562G>A (p.Gly188Arg)
n.416G>A
 ClinVar dbSNP

Number of alleles fetched