Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37065605delCA10021019PIGPc.384del (p.Glu129AsnfsTer?)
n.333del
c.306del (p.Glu103AsnfsTer?)
c.456del (p.Glu153AsnfsTer?)
n.731del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065605T>ACA409918080PIGPc.382A>T (p.Lys128Ter)
n.331A>T
c.304A>T (p.Lys102Ter)
c.454A>T (p.Lys152Ter)
n.729A>T
gnomAD v4
21g.37065605T>CCA409918082PIGPc.382A>G (p.Lys128Glu)
n.331A>G
c.304A>G (p.Lys102Glu)
c.454A>G (p.Lys152Glu)
n.729A>G
21g.37065605T>GCA409918084PIGPc.382A>C (p.Lys128Gln)
n.331A>C
c.304A>C (p.Lys102Gln)
c.454A>C (p.Lys152Gln)
n.729A>C
21g.37065606G>ACA10021020PIGPc.381C>T (p.Ala127=)
n.330C>T
c.303C>T (p.Ala101=)
c.453C>T (p.Ala151=)
n.728C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065606G>CCA512083126PIGPc.381C>G (p.Ala127=)
n.330C>G
c.303C>G (p.Ala101=)
c.453C>G (p.Ala151=)
n.728C>G
21g.37065606G=CA2388296172PIGPc.381C= (p.Ala127=)
n.330C=
c.303C= (p.Ala101=)
c.453C= (p.Ala151=)
n.728C=
21g.37065606G>TCA512083127PIGPc.381C>A (p.Ala127=)
n.330C>A
c.303C>A (p.Ala101=)
c.453C>A (p.Ala151=)
n.728C>A
21g.37065607G>ACA10021021PIGPc.380C>T (p.Ala127Val)
n.329C>T
c.302C>T (p.Ala101Val)
c.452C>T (p.Ala151Val)
n.727C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065607G>CCA409918087PIGPc.380C>G (p.Ala127Gly)
n.329C>G
c.302C>G (p.Ala101Gly)
c.452C>G (p.Ala151Gly)
n.727C>G
21g.37065607G=CA2388296173PIGPc.380C= (p.Ala127=)
n.329C=
c.302C= (p.Ala101=)
c.452C= (p.Ala151=)
n.727C=
21g.37065607G>TCA409918090PIGPc.380C>A (p.Ala127Asp)
n.329C>A
c.302C>A (p.Ala101Asp)
c.452C>A (p.Ala151Asp)
n.727C>A
21g.37065608C>ACA409918096PIGPc.379G>T (p.Ala127Ser)
n.328G>T
c.301G>T (p.Ala101Ser)
c.451G>T (p.Ala151Ser)
n.726G>T
21g.37065608C>GCA409918098PIGPc.379G>C (p.Ala127Pro)
n.328G>C
c.301G>C (p.Ala101Pro)
c.451G>C (p.Ala151Pro)
n.726G>C
21g.37065608C>TCA409918093PIGPc.379G>A (p.Ala127Thr)
n.328G>A
c.301G>A (p.Ala101Thr)
c.451G>A (p.Ala151Thr)
n.726G>A
21g.37065609T>ACA512083128PIGPc.378A>T (p.Ala126=)
n.327A>T
c.300A>T (p.Ala100=)
c.450A>T (p.Ala150=)
n.725A>T
21g.37065609T>CCA512083130PIGPc.378A>G (p.Ala126=)
n.327A>G
c.300A>G (p.Ala100=)
c.450A>G (p.Ala150=)
n.725A>G
dbSNP gnomAD v4
21g.37065609T>GCA512083129PIGPc.378A>C (p.Ala126=)
n.327A>C
c.300A>C (p.Ala100=)
c.450A>C (p.Ala150=)
n.725A>C
21g.37065609T=CA2388296174PIGPc.378A= (p.Ala126=)
n.327A=
c.300A= (p.Ala100=)
c.450A= (p.Ala150=)
n.725A=
21g.37065610G>ACA409918104PIGPc.377C>T (p.Ala126Val)
n.326C>T
c.299C>T (p.Ala100Val)
c.449C>T (p.Ala150Val)
n.724C>T
gnomAD v4
21g.37065610G>CCA409918106PIGPc.377C>G (p.Ala126Gly)
n.326C>G
c.299C>G (p.Ala100Gly)
c.449C>G (p.Ala150Gly)
n.724C>G
21g.37065610G>TCA409918109PIGPc.377C>A (p.Ala126Glu)
n.326C>A
c.299C>A (p.Ala100Glu)
c.449C>A (p.Ala150Glu)
n.724C>A
gnomAD v4
21g.37065611C>ACA409918111PIGPc.376G>T (p.Ala126Ser)
n.325G>T
c.298G>T (p.Ala100Ser)
c.448G>T (p.Ala150Ser)
n.723G>T
dbSNP gnomAD v2 gnomAD v4
21g.37065611C=CA2388296176PIGPc.376G= (p.Ala126=)
n.325G=
c.298G= (p.Ala100=)
c.448G= (p.Ala150=)
n.723G=
21g.37065611C>GCA10021022PIGPc.376G>C (p.Ala126Pro)
n.325G>C
c.298G>C (p.Ala100Pro)
c.448G>C (p.Ala150Pro)
n.723G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065611C>TCA409918115PIGPc.376G>A (p.Ala126Thr)
n.325G>A
c.298G>A (p.Ala100Thr)
c.448G>A (p.Ala150Thr)
n.723G>A
21g.37065611_37065612delinsCACA2388296175PIGPc.375_376delinsTG (p.Leu125=)
n.324_325delinsTG
c.297_298delinsTG (p.Leu99=)
c.447_448delinsTG (p.Leu149=)
n.722_723delinsTG
21g.37065612A>CCA512083133PIGPc.375T>G (p.Leu125=)
n.324T>G
c.297T>G (p.Leu99=)
c.447T>G (p.Leu149=)
n.722T>G
21g.37065612A>GCA512083131PIGPc.375T>C (p.Leu125=)
n.324T>C
c.297T>C (p.Leu99=)
c.447T>C (p.Leu149=)
n.722T>C
21g.37065612A>TCA512083132PIGPc.375T>A (p.Leu125=)
n.324T>A
c.297T>A (p.Leu99=)
c.447T>A (p.Leu149=)
n.722T>A
21g.37065613delCA637791398PIGPc.375del (p.Ala126GlnfsTer?)
n.324del
c.297del (p.Ala100GlnfsTer?)
c.447del (p.Ala150GlnfsTer?)
n.722del
dbSNP gnomAD v2 gnomAD v4
21g.37065613A>CCA409918119PIGPc.374T>G (p.Leu125Arg)
n.323T>G
c.296T>G (p.Leu99Arg)
c.446T>G (p.Leu149Arg)
n.721T>G
21g.37065613A>GCA409918124PIGPc.374T>C (p.Leu125Pro)
n.323T>C
c.296T>C (p.Leu99Pro)
c.446T>C (p.Leu149Pro)
n.721T>C
21g.37065613A>TCA409918122PIGPc.374T>A (p.Leu125His)
n.323T>A
c.296T>A (p.Leu99His)
c.446T>A (p.Leu149His)
n.721T>A
21g.37065614G>ACA10021023PIGPc.373C>T (p.Leu125Phe)
n.322C>T
c.295C>T (p.Leu99Phe)
c.445C>T (p.Leu149Phe)
n.720C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065614G>CCA409918128PIGPc.373C>G (p.Leu125Val)
n.322C>G
c.295C>G (p.Leu99Val)
c.445C>G (p.Leu149Val)
n.720C>G
21g.37065614G=CA2388296177PIGPc.373C= (p.Leu125=)
n.322C=
c.295C= (p.Leu99=)
c.445C= (p.Leu149=)
n.720C=
21g.37065614G>TCA409918130PIGPc.373C>A (p.Leu125Ile)
n.322C>A
c.295C>A (p.Leu99Ile)
c.445C>A (p.Leu149Ile)
n.720C>A
21g.37065615A=CA2388296178PIGPc.372T= (p.Phe124=)
n.321T=
c.294T= (p.Phe98=)
c.444T= (p.Phe148=)
n.719T=
21g.37065615A>CCA409918133PIGPc.372T>G (p.Phe124Leu)
n.321T>G
c.294T>G (p.Phe98Leu)
c.444T>G (p.Phe148Leu)
n.719T>G
21g.37065615A>GCA512083134PIGPc.372T>C (p.Phe124=)
n.321T>C
c.294T>C (p.Phe98=)
c.444T>C (p.Phe148=)
n.719T>C
dbSNP gnomAD v4 COSMIC
21g.37065615A>TCA409918134PIGPc.372T>A (p.Phe124Leu)
n.321T>A
c.294T>A (p.Phe98Leu)
c.444T>A (p.Phe148Leu)
n.719T>A
21g.37065617delCA2654449992PIGPc.372del (p.Ala126GlnfsTer?)
n.321del
c.294del (p.Ala100GlnfsTer?)
c.444del (p.Ala150GlnfsTer?)
n.719del
gnomAD v4
21g.37065616A>CCA409918139PIGPc.371T>G (p.Phe124Cys)
n.320T>G
c.293T>G (p.Phe98Cys)
c.443T>G (p.Phe148Cys)
n.718T>G
21g.37065616A>GCA409918141PIGPc.371T>C (p.Phe124Ser)
n.320T>C
c.293T>C (p.Phe98Ser)
c.443T>C (p.Phe148Ser)
n.718T>C
21g.37065616A>TCA409918137PIGPc.371T>A (p.Phe124Tyr)
n.320T>A
c.293T>A (p.Phe98Tyr)
c.443T>A (p.Phe148Tyr)
n.718T>A
21g.37065617A=CA2388296179PIGPc.370T= (p.Phe124=)
n.319T=
c.292T= (p.Phe98=)
c.442T= (p.Phe148=)
n.717T=
21g.37065617A>CCA10021024PIGPc.370T>G (p.Phe124Val)
n.319T>G
c.292T>G (p.Phe98Val)
c.442T>G (p.Phe148Val)
n.717T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065617A>GCA409918147PIGPc.370T>C (p.Phe124Leu)
n.319T>C
c.292T>C (p.Phe98Leu)
c.442T>C (p.Phe148Leu)
n.717T>C
21g.37065617A>TCA409918146PIGPc.370T>A (p.Phe124Ile)
n.319T>A
c.292T>A (p.Phe98Ile)
c.442T>A (p.Phe148Ile)
n.717T>A
21g.37065618G>ACA10021025PIGPc.369C>T (p.Phe123=)
n.318C>T
c.291C>T (p.Phe97=)
c.441C>T (p.Phe147=)
n.716C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065618G>CCA409918151PIGPc.369C>G (p.Phe123Leu)
n.318C>G
c.291C>G (p.Phe97Leu)
c.441C>G (p.Phe147Leu)
n.716C>G
21g.37065618G=CA2388296180PIGPc.369C= (p.Phe123=)
n.318C=
c.291C= (p.Phe97=)
c.441C= (p.Phe147=)
n.716C=
21g.37065618G>TCA409918154PIGPc.369C>A (p.Phe123Leu)
n.318C>A
c.291C>A (p.Phe97Leu)
c.441C>A (p.Phe147Leu)
n.716C>A
gnomAD v4 COSMIC
21g.37065619A=CA2388296181PIGPc.368T= (p.Phe123=)
n.317T=
c.290T= (p.Phe97=)
c.440T= (p.Phe147=)
n.715T=
21g.37065619A>CCA409918157PIGPc.368T>G (p.Phe123Cys)
n.317T>G
c.290T>G (p.Phe97Cys)
c.440T>G (p.Phe147Cys)
n.715T>G
21g.37065619A>GCA409918159PIGPc.368T>C (p.Phe123Ser)
n.317T>C
c.290T>C (p.Phe97Ser)
c.440T>C (p.Phe147Ser)
n.715T>C
dbSNP
21g.37065619A>TCA409918161PIGPc.368T>A (p.Phe123Tyr)
n.317T>A
c.290T>A (p.Phe97Tyr)
c.440T>A (p.Phe147Tyr)
n.715T>A
21g.37065620A>CCA409918165PIGPc.367T>G (p.Phe123Val)
n.316T>G
c.289T>G (p.Phe97Val)
c.439T>G (p.Phe147Val)
n.714T>G
21g.37065620A>GCA409918167PIGPc.367T>C (p.Phe123Leu)
n.316T>C
c.289T>C (p.Phe97Leu)
c.439T>C (p.Phe147Leu)
n.714T>C
21g.37065620A>TCA409918169PIGPc.367T>A (p.Phe123Ile)
n.316T>A
c.289T>A (p.Phe97Ile)
c.439T>A (p.Phe147Ile)
n.714T>A
21g.37065621C>ACA409918171PIGPc.366G>T (p.Met122Ile)
n.315G>T
c.288G>T (p.Met96Ile)
c.438G>T (p.Met146Ile)
n.713G>T
21g.37065621C>GCA409918173PIGPc.366G>C (p.Met122Ile)
n.315G>C
c.288G>C (p.Met96Ile)
c.438G>C (p.Met146Ile)
n.713G>C
gnomAD v4
21g.37065621C>TCA409918175PIGPc.366G>A (p.Met122Ile)
n.315G>A
c.288G>A (p.Met96Ile)
c.438G>A (p.Met146Ile)
n.713G>A
gnomAD v4
21g.37065622A>CCA409918184PIGPc.365T>G (p.Met122Arg)
n.314T>G
c.287T>G (p.Met96Arg)
c.437T>G (p.Met146Arg)
n.712T>G
21g.37065622A>GCA409918178PIGPc.365T>C (p.Met122Thr)
n.314T>C
c.287T>C (p.Met96Thr)
c.437T>C (p.Met146Thr)
n.712T>C
gnomAD v4
21g.37065622A>TCA409918181PIGPc.365T>A (p.Met122Lys)
n.314T>A
c.287T>A (p.Met96Lys)
c.437T>A (p.Met146Lys)
n.712T>A
21g.37065623T>ACA409918187PIGPc.364A>T (p.Met122Leu)
n.313A>T
c.286A>T (p.Met96Leu)
c.436A>T (p.Met146Leu)
n.711A>T
21g.37065623T>CCA409918189PIGPc.364A>G (p.Met122Val)
n.313A>G
c.286A>G (p.Met96Val)
c.436A>G (p.Met146Val)
n.711A>G
21g.37065623T>GCA409918191PIGPc.364A>C (p.Met122Leu)
n.313A>C
c.286A>C (p.Met96Leu)
c.436A>C (p.Met146Leu)
n.711A>C
21g.37065624T>ACA409918195PIGPc.363A>T (p.Gln121His)
n.312A>T
c.285A>T (p.Gln95His)
c.435A>T (p.Gln145His)
n.710A>T
21g.37065624T>CCA512083135PIGPc.363A>G (p.Gln121=)
n.312A>G
c.285A>G (p.Gln95=)
c.435A>G (p.Gln145=)
n.710A>G
COSMIC
21g.37065624T>GCA409918197PIGPc.363A>C (p.Gln121His)
n.312A>C
c.285A>C (p.Gln95His)
c.435A>C (p.Gln145His)
n.710A>C
21g.37065625T>ACA409918199PIGPc.362A>T (p.Gln121Leu)
n.311A>T
c.284A>T (p.Gln95Leu)
c.434A>T (p.Gln145Leu)
n.709A>T
21g.37065625T>CCA409918200PIGPc.362A>G (p.Gln121Arg)
n.311A>G
c.284A>G (p.Gln95Arg)
c.434A>G (p.Gln145Arg)
n.709A>G
21g.37065625T>GCA409918202PIGPc.362A>C (p.Gln121Pro)
n.311A>C
c.284A>C (p.Gln95Pro)
c.434A>C (p.Gln145Pro)
n.709A>C
21g.37065626G>ACA409918204PIGPc.361C>T (p.Gln121Ter)
n.310C>T
c.283C>T (p.Gln95Ter)
c.433C>T (p.Gln145Ter)
n.708C>T
ClinVar dbSNP gnomAD v4
21g.37065626G>CCA409918206PIGPc.361C>G (p.Gln121Glu)
n.310C>G
c.283C>G (p.Gln95Glu)
c.433C>G (p.Gln145Glu)
n.708C>G
21g.37065626G>TCA409918208PIGPc.361C>A (p.Gln121Lys)
n.310C>A
c.283C>A (p.Gln95Lys)
c.433C>A (p.Gln145Lys)
n.708C>A
21g.37065627G>ACA512083136PIGPc.360C>T (p.Asn120=)
n.309C>T
c.282C>T (p.Asn94=)
c.432C>T (p.Asn144=)
n.707C>T
21g.37065627G>CCA409918213PIGPc.360C>G (p.Asn120Lys)
n.309C>G
c.282C>G (p.Asn94Lys)
c.432C>G (p.Asn144Lys)
n.707C>G
21g.37065627G>TCA409918211PIGPc.360C>A (p.Asn120Lys)
n.309C>A
c.282C>A (p.Asn94Lys)
c.432C>A (p.Asn144Lys)
n.707C>A
21g.37065628T>ACA409918217PIGPc.359A>T (p.Asn120Ile)
n.308A>T
c.281A>T (p.Asn94Ile)
c.431A>T (p.Asn144Ile)
n.706A>T
21g.37065628T>CCA409918219PIGPc.359A>G (p.Asn120Ser)
n.308A>G
c.281A>G (p.Asn94Ser)
c.431A>G (p.Asn144Ser)
n.706A>G
21g.37065628T>GCA409918221PIGPc.359A>C (p.Asn120Thr)
n.308A>C
c.281A>C (p.Asn94Thr)
c.431A>C (p.Asn144Thr)
n.706A>C
21g.37065629T>ACA409918224PIGPc.358A>T (p.Asn120Tyr)
n.307A>T
c.280A>T (p.Asn94Tyr)
c.430A>T (p.Asn144Tyr)
n.705A>T
21g.37065629T>CCA409918225PIGPc.358A>G (p.Asn120Asp)
n.307A>G
c.280A>G (p.Asn94Asp)
c.430A>G (p.Asn144Asp)
n.705A>G
21g.37065629T>GCA409918227PIGPc.358A>C (p.Asn120His)
n.307A>C
c.280A>C (p.Asn94His)
c.430A>C (p.Asn144His)
n.705A>C
21g.37065630T>ACA512083137PIGPc.357A>T (p.Val119=)
n.306A>T
c.279A>T (p.Val93=)
c.429A>T (p.Val143=)
n.704A>T
21g.37065630T>CCA512083138PIGPc.357A>G (p.Val119=)
n.306A>G
c.279A>G (p.Val93=)
c.429A>G (p.Val143=)
n.704A>G
21g.37065630T>GCA512083139PIGPc.357A>C (p.Val119=)
n.306A>C
c.279A>C (p.Val93=)
c.429A>C (p.Val143=)
n.704A>C
21g.37065631A>CCA409918235PIGPc.356T>G (p.Val119Gly)
n.305T>G
c.278T>G (p.Val93Gly)
c.428T>G (p.Val143Gly)
n.703T>G
21g.37065631A>GCA409918230PIGPc.356T>C (p.Val119Ala)
n.305T>C
c.278T>C (p.Val93Ala)
c.428T>C (p.Val143Ala)
n.703T>C
21g.37065631A>TCA409918233PIGPc.356T>A (p.Val119Glu)
n.305T>A
c.278T>A (p.Val93Glu)
c.428T>A (p.Val143Glu)
n.703T>A
21g.37065632C>ACA409918238PIGPc.355G>T (p.Val119Leu)
n.304G>T
c.277G>T (p.Val93Leu)
c.427G>T (p.Val143Leu)
n.702G>T
21g.37065632C>GCA409918240PIGPc.355G>C (p.Val119Leu)
n.304G>C
c.277G>C (p.Val93Leu)
c.427G>C (p.Val143Leu)
n.702G>C
21g.37065632C>TCA409918242PIGPc.355G>A (p.Val119Ile)
n.304G>A
c.277G>A (p.Val93Ile)
c.427G>A (p.Val143Ile)
n.702G>A
21g.37065633T>ACA409918245PIGPc.354A>T (p.Glu118Asp)
n.303A>T
c.276A>T (p.Glu92Asp)
c.426A>T (p.Glu142Asp)
n.701A>T
21g.37065633T>CCA512083140PIGPc.354A>G (p.Glu118=)
n.303A>G
c.276A>G (p.Glu92=)
c.426A>G (p.Glu142=)
n.701A>G
21g.37065633T>GCA409918247PIGPc.354A>C (p.Glu118Asp)
n.303A>C
c.276A>C (p.Glu92Asp)
c.426A>C (p.Glu142Asp)
n.701A>C
21g.37065634T>ACA409918249PIGPc.353A>T (p.Glu118Val)
n.302A>T
c.275A>T (p.Glu92Val)
c.425A>T (p.Glu142Val)
n.700A>T
21g.37065634T>CCA409918253PIGPc.353A>G (p.Glu118Gly)
n.302A>G
c.275A>G (p.Glu92Gly)
c.425A>G (p.Glu142Gly)
n.700A>G
21g.37065634T>GCA409918251PIGPc.353A>C (p.Glu118Ala)
n.302A>C
c.275A>C (p.Glu92Ala)
c.425A>C (p.Glu142Ala)
n.700A>C
21g.37065635C>ACA409918257PIGPc.352G>T (p.Glu118Ter)
n.301G>T
c.274G>T (p.Glu92Ter)
c.424G>T (p.Glu142Ter)
n.699G>T
21g.37065635C=CA2388296182PIGPc.352G= (p.Glu118=)
n.301G=
c.274G= (p.Glu92=)
c.424G= (p.Glu142=)
n.699G=
21g.37065635C>GCA320402116PIGPc.352G>C (p.Glu118Gln)
n.301G>C
c.274G>C (p.Glu92Gln)
c.424G>C (p.Glu142Gln)
n.699G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37065635C>TCA409918261PIGPc.352G>A (p.Glu118Lys)
n.301G>A
c.274G>A (p.Glu92Lys)
c.424G>A (p.Glu142Lys)
n.699G>A
21g.37065636A=CA2388296183PIGPc.351T= (p.Ser117=)
n.300T=
c.273T= (p.Ser91=)
c.423T= (p.Ser141=)
n.698T=
21g.37065636A>CCA409918265PIGPc.351T>G (p.Ser117Arg)
n.300T>G
c.273T>G (p.Ser91Arg)
c.423T>G (p.Ser141Arg)
n.698T>G
21g.37065636A>GCA512083141PIGPc.351T>C (p.Ser117=)
n.300T>C
c.273T>C (p.Ser91=)
c.423T>C (p.Ser141=)
n.698T>C
dbSNP
21g.37065636A>TCA409918267PIGPc.351T>A (p.Ser117Arg)
n.300T>A
c.273T>A (p.Ser91Arg)
c.423T>A (p.Ser141Arg)
n.698T>A
21g.37065637C>ACA409918271PIGPc.350G>T (p.Ser117Ile)
n.299G>T
c.272G>T (p.Ser91Ile)
c.422G>T (p.Ser141Ile)
n.697G>T
21g.37065637C>GCA409918273PIGPc.350G>C (p.Ser117Thr)
n.299G>C
c.272G>C (p.Ser91Thr)
c.422G>C (p.Ser141Thr)
n.697G>C
21g.37065637C>TCA409918275PIGPc.350G>A (p.Ser117Asn)
n.299G>A
c.272G>A (p.Ser91Asn)
c.422G>A (p.Ser141Asn)
n.697G>A
21g.37065638T>ACA409918278PIGPc.349A>T (p.Ser117Cys)
n.298A>T
c.271A>T (p.Ser91Cys)
c.421A>T (p.Ser141Cys)
n.696A>T
21g.37065638T>CCA409918280PIGPc.349A>G (p.Ser117Gly)
n.298A>G
c.271A>G (p.Ser91Gly)
c.421A>G (p.Ser141Gly)
n.696A>G
gnomAD v4
21g.37065638T>GCA409918282PIGPc.349A>C (p.Ser117Arg)
n.298A>C
c.271A>C (p.Ser91Arg)
c.421A>C (p.Ser141Arg)
n.696A>C
21g.37065639A>CCA409918286PIGPc.348T>G (p.Ile116Met)
n.297T>G
c.270T>G (p.Ile90Met)
c.420T>G (p.Ile140Met)
n.695T>G
21g.37065639A>GCA512083142PIGPc.348T>C (p.Ile116=)
n.297T>C
c.270T>C (p.Ile90=)
c.420T>C (p.Ile140=)
n.695T>C
21g.37065639A>TCA512083143PIGPc.348T>A (p.Ile116=)
n.297T>A
c.270T>A (p.Ile90=)
c.420T>A (p.Ile140=)
n.695T>A
21g.37065640delCA2654449993PIGPc.348del (p.Ser117ValfsTer3)
n.297del
c.270del (p.Ser91ValfsTer3)
c.420del (p.Ser141ValfsTer3)
n.695del
gnomAD v4
21g.37065640A=CA2388296184PIGPc.347T= (p.Ile116=)
n.296T=
c.269T= (p.Ile90=)
c.419T= (p.Ile140=)
n.694T=
21g.37065640A>CCA409918291PIGPc.347T>G (p.Ile116Ser)
n.296T>G
c.269T>G (p.Ile90Ser)
c.419T>G (p.Ile140Ser)
n.694T>G
21g.37065640A>GCA10021026PIGPc.347T>C (p.Ile116Thr)
n.296T>C
c.269T>C (p.Ile90Thr)
c.419T>C (p.Ile140Thr)
n.694T>C
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065640A>TCA409918289PIGPc.347T>A (p.Ile116Asn)
n.296T>A
c.269T>A (p.Ile90Asn)
c.419T>A (p.Ile140Asn)
n.694T>A
21g.37065641T>ACA409918297PIGPc.346A>T (p.Ile116Phe)
n.295A>T
c.268A>T (p.Ile90Phe)
c.418A>T (p.Ile140Phe)
n.693A>T
21g.37065641T>CCA409918295PIGPc.346A>G (p.Ile116Val)
n.295A>G
c.268A>G (p.Ile90Val)
c.418A>G (p.Ile140Val)
n.693A>G
gnomAD v4 COSMIC
21g.37065641T>GCA409918299PIGPc.346A>C (p.Ile116Leu)
n.295A>C
c.268A>C (p.Ile90Leu)
c.418A>C (p.Ile140Leu)
n.693A>C
21g.37065642A=CA2388296185PIGPc.345T= (p.Ser115=)
n.294T=
c.267T= (p.Ser89=)
c.417T= (p.Ser139=)
n.692T=
21g.37065642A>CCA512083144PIGPc.345T>G (p.Ser115=)
n.294T>G
c.267T>G (p.Ser89=)
c.417T>G (p.Ser139=)
n.692T>G
21g.37065642A>GCA512083145PIGPc.345T>C (p.Ser115=)
n.294T>C
c.267T>C (p.Ser89=)
c.417T>C (p.Ser139=)
n.692T>C
ClinVar dbSNP gnomAD v4
21g.37065642A>TCA512083146PIGPc.345T>A (p.Ser115=)
n.294T>A
c.267T>A (p.Ser89=)
c.417T>A (p.Ser139=)
n.692T>A
21g.37065643G>ACA409918302PIGPc.344C>T (p.Ser115Phe)
n.293C>T
c.266C>T (p.Ser89Phe)
c.416C>T (p.Ser139Phe)
n.691C>T
21g.37065643G>CCA409918306PIGPc.344C>G (p.Ser115Cys)
n.293C>G
c.266C>G (p.Ser89Cys)
c.416C>G (p.Ser139Cys)
n.691C>G
gnomAD v4
21g.37065643G>TCA409918304PIGPc.344C>A (p.Ser115Tyr)
n.293C>A
c.266C>A (p.Ser89Tyr)
c.416C>A (p.Ser139Tyr)
n.691C>A
21g.37065644A=CA2388296186PIGPc.343T= (p.Ser115=)
n.292T=
c.265T= (p.Ser89=)
c.415T= (p.Ser139=)
n.690T=
21g.37065644A>CCA10021027PIGPc.343T>G (p.Ser115Ala)
n.292T>G
c.265T>G (p.Ser89Ala)
c.415T>G (p.Ser139Ala)
n.690T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065644A>GCA409918311PIGPc.343T>C (p.Ser115Pro)
n.292T>C
c.265T>C (p.Ser89Pro)
c.415T>C (p.Ser139Pro)
n.690T>C
dbSNP
21g.37065644A>TCA409918313PIGPc.343T>A (p.Ser115Thr)
n.292T>A
c.265T>A (p.Ser89Thr)
c.415T>A (p.Ser139Thr)
n.690T>A
21g.37065645A>CCA409918316PIGPc.342T>G (p.Ile114Met)
n.291T>G
c.264T>G (p.Ile88Met)
c.414T>G (p.Ile138Met)
n.689T>G
21g.37065645A>GCA512083148PIGPc.342T>C (p.Ile114=)
n.291T>C
c.264T>C (p.Ile88=)
c.414T>C (p.Ile138=)
n.689T>C
21g.37065645A>TCA512083147PIGPc.342T>A (p.Ile114=)
n.291T>A
c.264T>A (p.Ile88=)
c.414T>A (p.Ile138=)
n.689T>A
21g.37065646A=CA2388296187PIGPc.341T= (p.Ile114=)
n.290T=
c.263T= (p.Ile88=)
c.413T= (p.Ile138=)
n.688T=
21g.37065646A>CCA409918319PIGPc.341T>G (p.Ile114Ser)
n.290T>G
c.263T>G (p.Ile88Ser)
c.413T>G (p.Ile138Ser)
n.688T>G
21g.37065646A>GCA10021028PIGPc.341T>C (p.Ile114Thr)
n.290T>C
c.263T>C (p.Ile88Thr)
c.413T>C (p.Ile138Thr)
n.688T>C
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
21g.37065646A>TCA409918322PIGPc.341T>A (p.Ile114Asn)
n.290T>A
c.263T>A (p.Ile88Asn)
c.413T>A (p.Ile138Asn)
n.688T>A
21g.37065647T>ACA409918325PIGPc.340A>T (p.Ile114Phe)
n.289A>T
c.262A>T (p.Ile88Phe)
c.412A>T (p.Ile138Phe)
n.687A>T
21g.37065647T>CCA409918327PIGPc.340A>G (p.Ile114Val)
n.289A>G
c.262A>G (p.Ile88Val)
c.412A>G (p.Ile138Val)
n.687A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37065647T>GCA409918329PIGPc.340A>C (p.Ile114Leu)
n.289A>C
c.262A>C (p.Ile88Leu)
c.412A>C (p.Ile138Leu)
n.687A>C
21g.37065647T=CA2388296188PIGPc.340A= (p.Ile114=)
n.289A=
c.262A= (p.Ile88=)
c.412A= (p.Ile138=)
n.687A=
21g.37065648A=CA2388296189PIGPc.339T= (p.Asp113=)
n.288T=
c.261T= (p.Asp87=)
c.411T= (p.Asp137=)
n.686T=
21g.37065648A>CCA409918333PIGPc.339T>G (p.Asp113Glu)
n.288T>G
c.261T>G (p.Asp87Glu)
c.411T>G (p.Asp137Glu)
n.686T>G
dbSNP gnomAD v4
21g.37065648A>GCA512083149PIGPc.339T>C (p.Asp113=)
n.288T>C
c.261T>C (p.Asp87=)
c.411T>C (p.Asp137=)
n.686T>C
dbSNP gnomAD v4
21g.37065648A>TCA409918337PIGPc.339T>A (p.Asp113Glu)
n.288T>A
c.261T>A (p.Asp87Glu)
c.411T>A (p.Asp137Glu)
n.686T>A
21g.37065649T>ACA409918342PIGPc.338A>T (p.Asp113Val)
n.287A>T
c.260A>T (p.Asp87Val)
c.410A>T (p.Asp137Val)
n.685A>T
dbSNP gnomAD v3 gnomAD v4
21g.37065649T>CCA409918346PIGPc.338A>G (p.Asp113Gly)
n.287A>G
c.260A>G (p.Asp87Gly)
c.410A>G (p.Asp137Gly)
n.685A>G
21g.37065649T>GCA409918344PIGPc.338A>C (p.Asp113Ala)
n.287A>C
c.260A>C (p.Asp87Ala)
c.410A>C (p.Asp137Ala)
n.685A>C
21g.37065649T=CA2388296190PIGPc.338A= (p.Asp113=)
n.287A=
c.260A= (p.Asp87=)
c.410A= (p.Asp137=)
n.685A=
21g.37065650C>ACA409918349PIGPc.337G>T (p.Asp113Tyr)
n.286G>T
c.259G>T (p.Asp87Tyr)
c.409G>T (p.Asp137Tyr)
n.684G>T
21g.37065650C=CA2388296191PIGPc.337G= (p.Asp113=)
n.286G=
c.259G= (p.Asp87=)
c.409G= (p.Asp137=)
n.684G=
21g.37065650C>GCA409918351PIGPc.337G>C (p.Asp113His)
n.286G>C
c.259G>C (p.Asp87His)
c.409G>C (p.Asp137His)
n.684G>C
21g.37065650C>TCA409918352PIGPc.337G>A (p.Asp113Asn)
n.286G>A
c.259G>A (p.Asp87Asn)
c.409G>A (p.Asp137Asn)
n.684G>A
dbSNP gnomAD v4
21g.37065651T>ACA409918355PIGPc.336A>T (p.Arg112Ser)
n.285A>T
c.258A>T (p.Arg86Ser)
c.408A>T (p.Arg136Ser)
n.683A>T
21g.37065651T>CCA512083150PIGPc.336A>G (p.Arg112=)
n.285A>G
c.258A>G (p.Arg86=)
c.408A>G (p.Arg136=)
n.683A>G
21g.37065651T>GCA10021029PIGPc.336A>C (p.Arg112Ser)
n.285A>C
c.258A>C (p.Arg86Ser)
c.408A>C (p.Arg136Ser)
n.683A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065651T=CA2388296192PIGPc.336A= (p.Arg112=)
n.285A=
c.258A= (p.Arg86=)
c.408A= (p.Arg136=)
n.683A=
21g.37065652C>ACA409918359PIGPc.335G>T (p.Arg112Ile)
n.284G>T
c.257G>T (p.Arg86Ile)
c.407G>T (p.Arg136Ile)
n.682G>T
21g.37065652C>GCA409918360PIGPc.335G>C (p.Arg112Thr)
n.284G>C
c.257G>C (p.Arg86Thr)
c.407G>C (p.Arg136Thr)
n.682G>C
21g.37065652C>TCA409918363PIGPc.335G>A (p.Arg112Lys)
n.284G>A
c.257G>A (p.Arg86Lys)
c.407G>A (p.Arg136Lys)
n.682G>A
gnomAD v4
21g.37065653T>ACA409918364PIGPc.334A>T (p.Arg112Ter)
n.283A>T
c.256A>T (p.Arg86Ter)
c.406A>T (p.Arg136Ter)
n.681A>T
21g.37065653T>CCA409918366PIGPc.334A>G (p.Arg112Gly)
n.283A>G
c.256A>G (p.Arg86Gly)
c.406A>G (p.Arg136Gly)
n.681A>G
21g.37065653T>GCA512083151PIGPc.334A>C (p.Arg112=)
n.283A>C
c.256A>C (p.Arg86=)
c.406A>C (p.Arg136=)
n.681A>C
21g.37065654T>ACA10021030PIGPc.333A>T (p.Leu111Phe)
n.282A>T
c.255A>T (p.Leu85Phe)
c.405A>T (p.Leu135Phe)
n.680A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065654T>CCA512083152PIGPc.333A>G (p.Leu111=)
n.282A>G
c.255A>G (p.Leu85=)
c.405A>G (p.Leu135=)
n.680A>G
21g.37065654T>GCA409918368PIGPc.333A>C (p.Leu111Phe)
n.282A>C
c.255A>C (p.Leu85Phe)
c.405A>C (p.Leu135Phe)
n.680A>C
21g.37065654T=CA2388296193PIGPc.333A= (p.Leu111=)
n.282A=
c.255A= (p.Leu85=)
c.405A= (p.Leu135=)
n.680A=
21g.37065655A=CA2388296194PIGPc.332T= (p.Leu111=)
n.281T=
c.254T= (p.Leu85=)
c.404T= (p.Leu135=)
n.679T=
21g.37065655A>CCA10021031PIGPc.332T>G (p.Leu111Ter)
n.281T>G
c.254T>G (p.Leu85Ter)
c.404T>G (p.Leu135Ter)
n.679T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065655A>GCA409918374PIGPc.332T>C (p.Leu111Ser)
n.281T>C
c.254T>C (p.Leu85Ser)
c.404T>C (p.Leu135Ser)
n.679T>C
dbSNP gnomAD v2
21g.37065655A>TCA409918375PIGPc.332T>A (p.Leu111Ter)
n.281T>A
c.254T>A (p.Leu85Ter)
c.404T>A (p.Leu135Ter)
n.679T>A
21g.37065656A>CCA409918377PIGPc.331T>G (p.Leu111Val)
n.280T>G
c.253T>G (p.Leu85Val)
c.403T>G (p.Leu135Val)
n.678T>G
21g.37065656A>GCA512083153PIGPc.331T>C (p.Leu111=)
n.280T>C
c.253T>C (p.Leu85=)
c.403T>C (p.Leu135=)
n.678T>C
21g.37065656A>TCA409918379PIGPc.331T>A (p.Leu111Ile)
n.280T>A
c.253T>A (p.Leu85Ile)
c.403T>A (p.Leu135Ile)
n.678T>A
21g.37065657G>ACA512083154PIGPc.330C>T (p.Ala110=)
n.279C>T
c.252C>T (p.Ala84=)
c.402C>T (p.Ala134=)
n.677C>T
21g.37065657G>CCA512083156PIGPc.330C>G (p.Ala110=)
n.279C>G
c.252C>G (p.Ala84=)
c.402C>G (p.Ala134=)
n.677C>G
21g.37065657G>TCA512083155PIGPc.330C>A (p.Ala110=)
n.279C>A
c.252C>A (p.Ala84=)
c.402C>A (p.Ala134=)
n.677C>A
21g.37065658G>ACA409918384PIGPc.329C>T (p.Ala110Val)
n.278C>T
c.251C>T (p.Ala84Val)
c.401C>T (p.Ala134Val)
n.676C>T
21g.37065658G>CCA409918386PIGPc.329C>G (p.Ala110Gly)
n.278C>G
c.251C>G (p.Ala84Gly)
c.401C>G (p.Ala134Gly)
n.676C>G
21g.37065658G>TCA409918388PIGPc.329C>A (p.Ala110Asp)
n.278C>A
c.251C>A (p.Ala84Asp)
c.401C>A (p.Ala134Asp)
n.676C>A
21g.37065659C>ACA409918391PIGPc.328G>T (p.Ala110Ser)
n.277G>T
c.250G>T (p.Ala84Ser)
c.400G>T (p.Ala134Ser)
n.675G>T
21g.37065659C>GCA409918393PIGPc.328G>C (p.Ala110Pro)
n.277G>C
c.250G>C (p.Ala84Pro)
c.400G>C (p.Ala134Pro)
n.675G>C
21g.37065659C>TCA409918395PIGPc.328G>A (p.Ala110Thr)
n.277G>A
c.250G>A (p.Ala84Thr)
c.400G>A (p.Ala134Thr)
n.675G>A
21g.37065660T>ACA512083158PIGPc.327A>T (p.Pro109=)
n.276A>T
c.249A>T (p.Pro83=)
c.399A>T (p.Pro133=)
n.674A>T
21g.37065660T>CCA512083157PIGPc.327A>G (p.Pro109=)
n.276A>G
c.249A>G (p.Pro83=)
c.399A>G (p.Pro133=)
n.674A>G
21g.37065660T>GCA10021032PIGPc.327A>C (p.Pro109=)
n.276A>C
c.249A>C (p.Pro83=)
c.399A>C (p.Pro133=)
n.674A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065660T=CA2388296195PIGPc.327A= (p.Pro109=)
n.276A=
c.249A= (p.Pro83=)
c.399A= (p.Pro133=)
n.674A=
21g.37065661G>ACA409918402PIGPc.326C>T (p.Pro109Leu)
n.275C>T
c.248C>T (p.Pro83Leu)
c.398C>T (p.Pro133Leu)
n.673C>T
21g.37065661G>CCA409918405PIGPc.326C>G (p.Pro109Arg)
n.275C>G
c.248C>G (p.Pro83Arg)
c.398C>G (p.Pro133Arg)
n.673C>G
21g.37065661G>TCA409918400PIGPc.326C>A (p.Pro109Gln)
n.275C>A
c.248C>A (p.Pro83Gln)
c.398C>A (p.Pro133Gln)
n.673C>A
21g.37065662G>ACA409918408PIGPc.325C>T (p.Pro109Ser)
n.274C>T
c.247C>T (p.Pro83Ser)
c.397C>T (p.Pro133Ser)
n.672C>T
21g.37065662G>CCA409918410PIGPc.325C>G (p.Pro109Ala)
n.274C>G
c.247C>G (p.Pro83Ala)
c.397C>G (p.Pro133Ala)
n.672C>G
21g.37065662G>TCA409918411PIGPc.325C>A (p.Pro109Thr)
n.274C>A
c.247C>A (p.Pro83Thr)
c.397C>A (p.Pro133Thr)
n.672C>A
21g.37065663A>CCA409918412PIGPc.324T>G (p.Ile108Met)
n.273T>G
c.246T>G (p.Ile82Met)
c.396T>G (p.Ile132Met)
n.671T>G
21g.37065663A>GCA512083159PIGPc.324T>C (p.Ile108=)
n.273T>C
c.246T>C (p.Ile82=)
c.396T>C (p.Ile132=)
n.671T>C
21g.37065663A>TCA512083160PIGPc.324T>A (p.Ile108=)
n.273T>A
c.246T>A (p.Ile82=)
c.396T>A (p.Ile132=)
n.671T>A
21g.37065664A>CCA409918415PIGPc.323T>G (p.Ile108Ser)
n.272T>G
c.245T>G (p.Ile82Ser)
c.395T>G (p.Ile132Ser)
n.670T>G
21g.37065664A>GCA409918414PIGPc.323T>C (p.Ile108Thr)
n.272T>C
c.245T>C (p.Ile82Thr)
c.395T>C (p.Ile132Thr)
n.670T>C
21g.37065664A>TCA409918413PIGPc.323T>A (p.Ile108Asn)
n.272T>A
c.245T>A (p.Ile82Asn)
c.395T>A (p.Ile132Asn)
n.670T>A
21g.37065665T>ACA320402149PIGPc.322A>T (p.Ile108Phe)
n.271A>T
c.244A>T (p.Ile82Phe)
c.394A>T (p.Ile132Phe)
n.669A>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37065665T>CCA10021033PIGPc.322A>G (p.Ile108Val)
n.271A>G
c.244A>G (p.Ile82Val)
c.394A>G (p.Ile132Val)
n.669A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065665T>GCA409918416PIGPc.322A>C (p.Ile108Leu)
n.271A>C
c.244A>C (p.Ile82Leu)
c.394A>C (p.Ile132Leu)
n.669A>C
21g.37065665T=CA2388296196PIGPc.322A= (p.Ile108=)
n.271A=
c.244A= (p.Ile82=)
c.394A= (p.Ile132=)
n.669A=
21g.37065666G>ACA512083161PIGPc.321C>T (p.Ala107=)
n.270C>T
c.243C>T (p.Ala81=)
c.393C>T (p.Ala131=)
n.668C>T
21g.37065666G>CCA512083162PIGPc.321C>G (p.Ala107=)
n.270C>G
c.243C>G (p.Ala81=)
c.393C>G (p.Ala131=)
n.668C>G
21g.37065666G>TCA512083163PIGPc.321C>A (p.Ala107=)
n.270C>A
c.243C>A (p.Ala81=)
c.393C>A (p.Ala131=)
n.668C>A
21g.37065667G>ACA320402150PIGPc.320C>T (p.Ala107Val)
n.269C>T
c.242C>T (p.Ala81Val)
c.392C>T (p.Ala131Val)
n.667C>T
dbSNP gnomAD v4
21g.37065667G>CCA409918417PIGPc.320C>G (p.Ala107Gly)
n.269C>G
c.242C>G (p.Ala81Gly)
c.392C>G (p.Ala131Gly)
n.667C>G
21g.37065667G=CA2388296197PIGPc.320C= (p.Ala107=)
n.269C=
c.242C= (p.Ala81=)
c.392C= (p.Ala131=)
n.667C=
21g.37065667G>TCA10021034PIGPc.320C>A (p.Ala107Asp)
n.269C>A
c.242C>A (p.Ala81Asp)
c.392C>A (p.Ala131Asp)
n.667C>A
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065668C>ACA409918420PIGPc.319G>T (p.Ala107Ser)
n.268G>T
c.241G>T (p.Ala81Ser)
c.391G>T (p.Ala131Ser)
n.666G>T
21g.37065668C>GCA409918419PIGPc.319G>C (p.Ala107Pro)
n.268G>C
c.241G>C (p.Ala81Pro)
c.391G>C (p.Ala131Pro)
n.666G>C
21g.37065668C>TCA409918418PIGPc.319G>A (p.Ala107Thr)
n.268G>A
c.241G>A (p.Ala81Thr)
c.391G>A (p.Ala131Thr)
n.666G>A
gnomAD v4
21g.37065669C>ACA409918421PIGPc.318G>T (p.Glu106Asp)
n.267G>T
c.240G>T (p.Glu80Asp)
c.390G>T (p.Glu130Asp)
n.665G>T
21g.37065669C=CA2388296199PIGPc.318G= (p.Glu106=)
n.267G=
c.240G= (p.Glu80=)
c.390G= (p.Glu130=)
n.665G=
21g.37065669C>GCA409918422PIGPc.318G>C (p.Glu106Asp)
n.267G>C
c.240G>C (p.Glu80Asp)
c.390G>C (p.Glu130Asp)
n.665G>C
21g.37065669C>TCA320402157PIGPc.318G>A (p.Glu106=)
n.267G>A
c.240G>A (p.Glu80=)
c.390G>A (p.Glu130=)
n.665G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37065669_37065670delinsCTCA2388296198PIGPc.317_318delinsAG (p.Glu106=)
n.266_267delinsAG
c.239_240delinsAG (p.Glu80=)
c.389_390delinsAG (p.Glu130=)
n.664_665delinsAG
21g.37065670delCA10021035PIGPc.317del (p.Glu106GlyfsTer6)
n.266del
c.239del (p.Glu80GlyfsTer6)
c.389del (p.Glu130GlyfsTer6)
n.664del
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065670T>ACA409918423PIGPc.317A>T (p.Glu106Val)
n.266A>T
c.239A>T (p.Glu80Val)
c.389A>T (p.Glu130Val)
n.664A>T
21g.37065670T>CCA409918424PIGPc.317A>G (p.Glu106Gly)
n.266A>G
c.239A>G (p.Glu80Gly)
c.389A>G (p.Glu130Gly)
n.664A>G
21g.37065670T>GCA409918425PIGPc.317A>C (p.Glu106Ala)
n.266A>C
c.239A>C (p.Glu80Ala)
c.389A>C (p.Glu130Ala)
n.664A>C
21g.37065671C>ACA409918428PIGPc.316G>T (p.Glu106Ter)
n.265G>T
c.238G>T (p.Glu80Ter)
c.388G>T (p.Glu130Ter)
n.663G>T
21g.37065671C=CA2388296200PIGPc.316G= (p.Glu106=)
n.265G=
c.238G= (p.Glu80=)
c.388G= (p.Glu130=)
n.663G=
21g.37065671C>GCA409918426PIGPc.316G>C (p.Glu106Gln)
n.265G>C
c.238G>C (p.Glu80Gln)
c.388G>C (p.Glu130Gln)
n.663G>C
21g.37065671C>TCA409918427PIGPc.316G>A (p.Glu106Lys)
n.265G>A
c.238G>A (p.Glu80Lys)
c.388G>A (p.Glu130Lys)
n.663G>A
dbSNP
21g.37065672C>ACA409918429PIGPc.315G>T (p.Glu105Asp)
n.264G>T
c.237G>T (p.Glu79Asp)
c.387G>T (p.Glu129Asp)
n.662G>T
21g.37065672C>GCA409918430PIGPc.315G>C (p.Glu105Asp)
n.264G>C
c.237G>C (p.Glu79Asp)
c.387G>C (p.Glu129Asp)
n.662G>C
21g.37065672C>TCA512083164PIGPc.315G>A (p.Glu105=)
n.264G>A
c.237G>A (p.Glu79=)
c.387G>A (p.Glu129=)
n.662G>A
21g.37065673T>ACA409918431PIGPc.314A>T (p.Glu105Val)
n.263A>T
c.236A>T (p.Glu79Val)
c.386A>T (p.Glu129Val)
n.661A>T
21g.37065673T>CCA320402188PIGPc.314A>G (p.Glu105Gly)
n.263A>G
c.236A>G (p.Glu79Gly)
c.386A>G (p.Glu129Gly)
n.661A>G
dbSNP gnomAD v4
21g.37065673T>GCA409918432PIGPc.314A>C (p.Glu105Ala)
n.263A>C
c.236A>C (p.Glu79Ala)
c.386A>C (p.Glu129Ala)
n.661A>C
21g.37065673T=CA2388296201PIGPc.314A= (p.Glu105=)
n.263A=
c.236A= (p.Glu79=)
c.386A= (p.Glu129=)
n.661A=
21g.37065674C>ACA409918435PIGPc.313G>T (p.Glu105Ter)
n.262G>T
c.235G>T (p.Glu79Ter)
c.385G>T (p.Glu129Ter)
n.660G>T
21g.37065674C=CA2388296202PIGPc.313G= (p.Glu105=)
n.262G=
c.235G= (p.Glu79=)
c.385G= (p.Glu129=)
n.660G=
21g.37065674C>GCA409918433PIGPc.313G>C (p.Glu105Gln)
n.262G>C
c.235G>C (p.Glu79Gln)
c.385G>C (p.Glu129Gln)
n.660G>C
dbSNP gnomAD v4
21g.37065674C>TCA409918434PIGPc.313G>A (p.Glu105Lys)
n.262G>A
c.235G>A (p.Glu79Lys)
c.385G>A (p.Glu129Lys)
n.660G>A
21g.37065675T>ACA409918436PIGPc.312A>T (p.Gln104His)
n.261A>T
c.234A>T (p.Gln78His)
c.384A>T (p.Gln128His)
n.659A>T
21g.37065675T>CCA512083165PIGPc.312A>G (p.Gln104=)
n.261A>G
c.234A>G (p.Gln78=)
c.384A>G (p.Gln128=)
n.659A>G
21g.37065675T>GCA409918437PIGPc.312A>C (p.Gln104His)
n.261A>C
c.234A>C (p.Gln78His)
c.384A>C (p.Gln128His)
n.659A>C
21g.37065676T>ACA409918438PIGPc.311A>T (p.Gln104Leu)
n.260A>T
c.233A>T (p.Gln78Leu)
c.383A>T (p.Gln128Leu)
n.658A>T
21g.37065676T>CCA409918439PIGPc.311A>G (p.Gln104Arg)
n.260A>G
c.233A>G (p.Gln78Arg)
c.383A>G (p.Gln128Arg)
n.658A>G
21g.37065676T>GCA409918440PIGPc.311A>C (p.Gln104Pro)
n.260A>C
c.233A>C (p.Gln78Pro)
c.383A>C (p.Gln128Pro)
n.658A>C
21g.37065677G>ACA409918441PIGPc.310C>T (p.Gln104Ter)
n.259C>T
c.232C>T (p.Gln78Ter)
c.382C>T (p.Gln128Ter)
n.657C>T
21g.37065677G>CCA409918442PIGPc.310C>G (p.Gln104Glu)
n.259C>G
c.232C>G (p.Gln78Glu)
c.382C>G (p.Gln128Glu)
n.657C>G
21g.37065677G>TCA409918443PIGPc.310C>A (p.Gln104Lys)
n.259C>A
c.232C>A (p.Gln78Lys)
c.382C>A (p.Gln128Lys)
n.657C>A
21g.37065678G>ACA512083166PIGPc.309C>T (p.Tyr103=)
n.258C>T
c.231C>T (p.Tyr77=)
c.381C>T (p.Tyr127=)
n.656C>T
ClinVar dbSNP
21g.37065678G>CCA409918444PIGPc.309C>G (p.Tyr103Ter)
n.258C>G
c.231C>G (p.Tyr77Ter)
c.381C>G (p.Tyr127Ter)
n.656C>G
21g.37065678G>TCA409918445PIGPc.309C>A (p.Tyr103Ter)
n.258C>A
c.231C>A (p.Tyr77Ter)
c.381C>A (p.Tyr127Ter)
n.656C>A
21g.37065679T>ACA409918446PIGPc.308A>T (p.Tyr103Phe)
n.257A>T
c.230A>T (p.Tyr77Phe)
c.380A>T (p.Tyr127Phe)
n.655A>T
21g.37065679T>CCA409918447PIGPc.308A>G (p.Tyr103Cys)
n.257A>G
c.230A>G (p.Tyr77Cys)
c.380A>G (p.Tyr127Cys)
n.655A>G
21g.37065679T>GCA409918448PIGPc.308A>C (p.Tyr103Ser)
n.257A>C
c.230A>C (p.Tyr77Ser)
c.380A>C (p.Tyr127Ser)
n.655A>C
21g.37065679dupCA2573157407PIGPc.308dup (p.Tyr103Ter)
n.257dup
c.230dup (p.Tyr77Ter)
c.380dup (p.Tyr127Ter)
n.655dup
ClinVar dbSNP
21g.37065680A=CA2388296203PIGPc.307T= (p.Tyr103=)
n.256T=
c.229T= (p.Tyr77=)
c.379T= (p.Tyr127=)
n.654T=
21g.37065680A>CCA409918449PIGPc.307T>G (p.Tyr103Asp)
n.256T>G
c.229T>G (p.Tyr77Asp)
c.379T>G (p.Tyr127Asp)
n.654T>G
21g.37065680A>GCA10021036PIGPc.307T>C (p.Tyr103His)
n.256T>C
c.229T>C (p.Tyr77His)
c.379T>C (p.Tyr127His)
n.654T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065680A>TCA409918450PIGPc.307T>A (p.Tyr103Asn)
n.256T>A
c.229T>A (p.Tyr77Asn)
c.379T>A (p.Tyr127Asn)
n.654T>A
21g.37065681T>ACA409918451PIGPc.306A>T (p.Lys102Asn)
n.255A>T
c.228A>T (p.Lys76Asn)
c.378A>T (p.Lys126Asn)
n.653A>T
21g.37065681T>CCA10021037PIGPc.306A>G (p.Lys102=)
n.255A>G
c.228A>G (p.Lys76=)
c.378A>G (p.Lys126=)
n.653A>G
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065681T>GCA409918452PIGPc.306A>C (p.Lys102Asn)
n.255A>C
c.228A>C (p.Lys76Asn)
c.378A>C (p.Lys126Asn)
n.653A>C
gnomAD v4
21g.37065681T=CA2388296204PIGPc.306A= (p.Lys102=)
n.255A=
c.228A= (p.Lys76=)
c.378A= (p.Lys126=)
n.653A=
21g.37065682T>ACA409918453PIGPc.305A>T (p.Lys102Ile)
n.254A>T
c.227A>T (p.Lys76Ile)
c.377A>T (p.Lys126Ile)
n.652A>T
21g.37065682T>CCA409918454PIGPc.305A>G (p.Lys102Arg)
n.254A>G
c.227A>G (p.Lys76Arg)
c.377A>G (p.Lys126Arg)
n.652A>G
gnomAD v4
21g.37065682T>GCA409918455PIGPc.305A>C (p.Lys102Thr)
n.254A>C
c.227A>C (p.Lys76Thr)
c.377A>C (p.Lys126Thr)
n.652A>C
21g.37065683T>ACA409918457PIGPc.304A>T (p.Lys102Ter)
n.253A>T
c.226A>T (p.Lys76Ter)
c.376A>T (p.Lys126Ter)
n.651A>T
21g.37065683T>CCA409918459PIGPc.304A>G (p.Lys102Glu)
n.253A>G
c.226A>G (p.Lys76Glu)
c.376A>G (p.Lys126Glu)
n.651A>G
21g.37065683T>GCA409918461PIGPc.304A>C (p.Lys102Gln)
n.253A>C
c.226A>C (p.Lys76Gln)
c.376A>C (p.Lys126Gln)
n.651A>C
21g.37065684C>ACA409918464PIGPc.303G>T (p.Lys101Asn)
n.252G>T
c.225G>T (p.Lys75Asn)
c.375G>T (p.Lys125Asn)
n.650G>T
21g.37065684C>GCA409918466PIGPc.303G>C (p.Lys101Asn)
n.252G>C
c.225G>C (p.Lys75Asn)
c.375G>C (p.Lys125Asn)
n.650G>C
21g.37065684C>TCA512083167PIGPc.303G>A (p.Lys101=)
n.252G>A
c.225G>A (p.Lys75=)
c.375G>A (p.Lys125=)
n.650G>A
21g.37065685T>ACA409918472PIGPc.302A>T (p.Lys101Met)
n.251A>T
c.224A>T (p.Lys75Met)
c.374A>T (p.Lys125Met)
n.649A>T
21g.37065685T>CCA10021038PIGPc.302A>G (p.Lys101Arg)
n.251A>G
c.224A>G (p.Lys75Arg)
c.374A>G (p.Lys125Arg)
n.649A>G
dbSNP ExAC gnomAD v4
21g.37065685T>GCA409918468PIGPc.302A>C (p.Lys101Thr)
n.251A>C
c.224A>C (p.Lys75Thr)
c.374A>C (p.Lys125Thr)
n.649A>C
21g.37065685T=CA2388296205PIGPc.302A= (p.Lys101=)
n.251A=
c.224A= (p.Lys75=)
c.374A= (p.Lys125=)
n.649A=
21g.37065686T>ACA409918475PIGPc.301A>T (p.Lys101Ter)
n.250A>T
c.223A>T (p.Lys75Ter)
c.373A>T (p.Lys125Ter)
n.648A>T
21g.37065686T>CCA409918477PIGPc.301A>G (p.Lys101Glu)
n.250A>G
c.223A>G (p.Lys75Glu)
c.373A>G (p.Lys125Glu)
n.648A>G
21g.37065686T>GCA409918479PIGPc.301A>C (p.Lys101Gln)
n.250A>C
c.223A>C (p.Lys75Gln)
c.373A>C (p.Lys125Gln)
n.648A>C
21g.37065687C>ACA409918482PIGPc.300G>T (p.Gln100His)
n.249G>T
c.222G>T (p.Gln74His)
c.372G>T (p.Gln124His)
n.647G>T
21g.37065687C=CA2388296206PIGPc.300G= (p.Gln100=)
n.249G=
c.222G= (p.Gln74=)
c.372G= (p.Gln124=)
n.647G=
21g.37065687C>GCA409918483PIGPc.300G>C (p.Gln100His)
n.249G>C
c.222G>C (p.Gln74His)
c.372G>C (p.Gln124His)
n.647G>C
dbSNP gnomAD v4
21g.37065687C>TCA512083168PIGPc.300G>A (p.Gln100=)
n.249G>A
c.222G>A (p.Gln74=)
c.372G>A (p.Gln124=)
n.647G>A
21g.37065688T>ACA409918486PIGPc.299A>T (p.Gln100Leu)
n.248A>T
c.221A>T (p.Gln74Leu)
c.371A>T (p.Gln124Leu)
n.646A>T
21g.37065688T>CCA409918487PIGPc.299A>G (p.Gln100Arg)
n.248A>G
c.221A>G (p.Gln74Arg)
c.371A>G (p.Gln124Arg)
n.646A>G
21g.37065688T>GCA409918489PIGPc.299A>C (p.Gln100Pro)
n.248A>C
c.221A>C (p.Gln74Pro)
c.371A>C (p.Gln124Pro)
n.646A>C
21g.37065689G>ACA409918492PIGPc.298C>T (p.Gln100Ter)
n.247C>T
c.220C>T (p.Gln74Ter)
c.370C>T (p.Gln124Ter)
n.645C>T
21g.37065689G>CCA409918494PIGPc.298C>G (p.Gln100Glu)
n.247C>G
c.220C>G (p.Gln74Glu)
c.370C>G (p.Gln124Glu)
n.645C>G
21g.37065689G>TCA409918496PIGPc.298C>A (p.Gln100Lys)
n.247C>A
c.220C>A (p.Gln74Lys)
c.370C>A (p.Gln124Lys)
n.645C>A
21g.37065690C>ACA409918498PIGPc.297G>T (p.Gln99His)
n.246G>T
c.219G>T (p.Gln73His)
c.369G>T (p.Gln123His)
n.644G>T
21g.37065690C>GCA409918500PIGPc.297G>C (p.Gln99His)
n.246G>C
c.219G>C (p.Gln73His)
c.369G>C (p.Gln123His)
n.644G>C
21g.37065690C>TCA512083169PIGPc.297G>A (p.Gln99=)
n.246G>A
c.219G>A (p.Gln73=)
c.369G>A (p.Gln123=)
n.644G>A
21g.37065691T>ACA409918505PIGPc.296A>T (p.Gln99Leu)
n.245A>T
c.218A>T (p.Gln73Leu)
c.368A>T (p.Gln123Leu)
n.643A>T
21g.37065691T>CCA409918506PIGPc.296A>G (p.Gln99Arg)
n.245A>G
c.218A>G (p.Gln73Arg)
c.368A>G (p.Gln123Arg)
n.643A>G
21g.37065691T>GCA409918503PIGPc.296A>C (p.Gln99Pro)
n.245A>C
c.218A>C (p.Gln73Pro)
c.368A>C (p.Gln123Pro)
n.643A>C
21g.37065692G>ACA409918513PIGPc.295C>T (p.Gln99Ter)
n.244C>T
c.217C>T (p.Gln73Ter)
c.367C>T (p.Gln123Ter)
n.642C>T
gnomAD v4
21g.37065692G>CCA409918510PIGPc.295C>G (p.Gln99Glu)
n.244C>G
c.217C>G (p.Gln73Glu)
c.367C>G (p.Gln123Glu)
n.642C>G
21g.37065692G>TCA409918511PIGPc.295C>A (p.Gln99Lys)
n.244C>A
c.217C>A (p.Gln73Lys)
c.367C>A (p.Gln123Lys)
n.642C>A
21g.37065693T>ACA409918516PIGPc.294A>T (p.Gln98His)
n.243A>T
c.216A>T (p.Gln72His)
c.366A>T (p.Gln122His)
n.641A>T
21g.37065693T>CCA512083170PIGPc.294A>G (p.Gln98=)
n.243A>G
c.216A>G (p.Gln72=)
c.366A>G (p.Gln122=)
n.641A>G
gnomAD v4
21g.37065693T>GCA409918517PIGPc.294A>C (p.Gln98His)
n.243A>C
c.216A>C (p.Gln72His)
c.366A>C (p.Gln122His)
n.641A>C
21g.37065694T>ACA409918519PIGPc.293A>T (p.Gln98Leu)
n.242A>T
c.215A>T (p.Gln72Leu)
c.365A>T (p.Gln122Leu)
n.640A>T
21g.37065694T>CCA409918521PIGPc.293A>G (p.Gln98Arg)
n.242A>G
c.215A>G (p.Gln72Arg)
c.365A>G (p.Gln122Arg)
n.640A>G
21g.37065694T>GCA409918523PIGPc.293A>C (p.Gln98Pro)
n.242A>C
c.215A>C (p.Gln72Pro)
c.365A>C (p.Gln122Pro)
n.640A>C
21g.37065695G>ACA10021039PIGPc.292C>T (p.Gln98Ter)
n.241C>T
c.214C>T (p.Gln72Ter)
c.364C>T (p.Gln122Ter)
n.639C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065695G>CCA409918526PIGPc.292C>G (p.Gln98Glu)
n.241C>G
c.214C>G (p.Gln72Glu)
c.364C>G (p.Gln122Glu)
n.639C>G
dbSNP
21g.37065695G=CA2388296207PIGPc.292C= (p.Gln98=)
n.241C=
c.214C= (p.Gln72=)
c.364C= (p.Gln122=)
n.639C=
21g.37065695G>TCA409918527PIGPc.292C>A (p.Gln98Lys)
n.241C>A
c.214C>A (p.Gln72Lys)
c.364C>A (p.Gln122Lys)
n.639C>A
21g.37065696A=CA2388296209PIGPc.291T= (p.Asn97=)
n.240T=
c.213T= (p.Asn71=)
c.363T= (p.Asn121=)
n.638T=
21g.37065696A>CCA409918530PIGPc.291T>G (p.Asn97Lys)
n.240T>G
c.213T>G (p.Asn71Lys)
c.363T>G (p.Asn121Lys)
n.638T>G
21g.37065696A>GCA10021041PIGPc.291T>C (p.Asn97=)
n.240T>C
c.213T>C (p.Asn71=)
c.363T>C (p.Asn121=)
n.638T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065696A>TCA409918533PIGPc.291T>A (p.Asn97Lys)
n.240T>A
c.213T>A (p.Asn71Lys)
c.363T>A (p.Asn121Lys)
n.638T>A
COSMIC
21g.37065696_37065697delinsATCA2388296208PIGPc.290_291delinsAT (p.Asn97=)
n.239_240delinsAT
c.212_213delinsAT (p.Asn71=)
c.362_363delinsAT (p.Asn121=)
n.637_638delinsAT
21g.37065697T>ACA409918541PIGPc.290A>T (p.Asn97Ile)
n.239A>T
c.212A>T (p.Asn71Ile)
c.362A>T (p.Asn121Ile)
n.637A>T
21g.37065697T>CCA409918539PIGPc.290A>G (p.Asn97Ser)
n.239A>G
c.212A>G (p.Asn71Ser)
c.362A>G (p.Asn121Ser)
n.637A>G
gnomAD v4
21g.37065697T>GCA409918537PIGPc.290A>C (p.Asn97Thr)
n.239A>C
c.212A>C (p.Asn71Thr)
c.362A>C (p.Asn121Thr)
n.637A>C
21g.37065702dupCA637791422PIGPc.290dup (p.Asn97LysfsTer21)
n.239dup
c.212dup (p.Asn71LysfsTer21)
c.362dup (p.Asn121LysfsTer21)
n.637dup
dbSNP gnomAD v2 gnomAD v4
21g.37065702delCA10021040PIGPc.290del (p.Asn97IlefsTer15)
n.239del
c.212del (p.Asn71IlefsTer15)
c.362del (p.Asn121IlefsTer15)
n.637del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065698T>ACA409918543PIGPc.289A>T (p.Asn97Tyr)
n.238A>T
c.211A>T (p.Asn71Tyr)
c.361A>T (p.Asn121Tyr)
n.636A>T
21g.37065698T>CCA409918544PIGPc.289A>G (p.Asn97Asp)
n.238A>G
c.211A>G (p.Asn71Asp)
c.361A>G (p.Asn121Asp)
n.636A>G
21g.37065698T>GCA409918547PIGPc.289A>C (p.Asn97His)
n.238A>C
c.211A>C (p.Asn71His)
c.361A>C (p.Asn121His)
n.636A>C
dbSNP gnomAD v2 gnomAD v4
21g.37065698T=CA2388296210PIGPc.289A= (p.Asn97=)
n.238A=
c.211A= (p.Asn71=)
c.361A= (p.Asn121=)
n.636A=
21g.37065699T>ACA409918549PIGPc.288A>T (p.Lys96Asn)
n.237A>T
c.210A>T (p.Lys70Asn)
c.360A>T (p.Lys120Asn)
n.635A>T
21g.37065699T>CCA512083171PIGPc.288A>G (p.Lys96=)
n.237A>G
c.210A>G (p.Lys70=)
c.360A>G (p.Lys120=)
n.635A>G
gnomAD v4
21g.37065699T>GCA409918551PIGPc.288A>C (p.Lys96Asn)
n.237A>C
c.210A>C (p.Lys70Asn)
c.360A>C (p.Lys120Asn)
n.635A>C
21g.37065700T>ACA409918553PIGPc.287A>T (p.Lys96Ile)
n.236A>T
c.209A>T (p.Lys70Ile)
c.359A>T (p.Lys120Ile)
n.634A>T
21g.37065700T>CCA409918555PIGPc.287A>G (p.Lys96Arg)
n.236A>G
c.209A>G (p.Lys70Arg)
c.359A>G (p.Lys120Arg)
n.634A>G
21g.37065700T>GCA409918556PIGPc.287A>C (p.Lys96Thr)
n.236A>C
c.209A>C (p.Lys70Thr)
c.359A>C (p.Lys120Thr)
n.634A>C
COSMIC
21g.37065701T>ACA409918558PIGPc.286A>T (p.Lys96Ter)
n.235A>T
c.208A>T (p.Lys70Ter)
c.358A>T (p.Lys120Ter)
n.633A>T
21g.37065701T>CCA10021042PIGPc.286A>G (p.Lys96Glu)
n.235A>G
c.208A>G (p.Lys70Glu)
c.358A>G (p.Lys120Glu)
n.633A>G
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065701T>GCA409918559PIGPc.286A>C (p.Lys96Gln)
n.235A>C
c.208A>C (p.Lys70Gln)
c.358A>C (p.Lys120Gln)
n.633A>C
21g.37065701T=CA2388296211PIGPc.286A= (p.Lys96=)
n.235A=
c.208A= (p.Lys70=)
c.358A= (p.Lys120=)
n.633A=
21g.37065702T>ACA512083175PIGPc.285A>T (p.Ala95=)
n.234A>T
c.207A>T (p.Ala69=)
c.357A>T (p.Ala119=)
n.632A>T
21g.37065702T>CCA512083176PIGPc.285A>G (p.Ala95=)
n.234A>G
c.207A>G (p.Ala69=)
c.357A>G (p.Ala119=)
n.632A>G
21g.37065702T>GCA512083177PIGPc.285A>C (p.Ala95=)
n.234A>C
c.207A>C (p.Ala69=)
c.357A>C (p.Ala119=)
n.632A>C
21g.37065703G>ACA409918560PIGPc.284C>T (p.Ala95Val)
n.233C>T
c.206C>T (p.Ala69Val)
c.356C>T (p.Ala119Val)
n.631C>T
21g.37065703G>CCA10021044PIGPc.284C>G (p.Ala95Gly)
n.233C>G
c.206C>G (p.Ala69Gly)
c.356C>G (p.Ala119Gly)
n.631C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065703G=CA2388296212PIGPc.284C= (p.Ala95=)
n.233C=
c.206C= (p.Ala69=)
c.356C= (p.Ala119=)
n.631C=
21g.37065703G>TCA10021043PIGPc.284C>A (p.Ala95Glu)
n.233C>A
c.206C>A (p.Ala69Glu)
c.356C>A (p.Ala119Glu)
n.631C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37065704C>ACA409918562PIGPc.283G>T (p.Ala95Ser)
n.232G>T
c.205G>T (p.Ala69Ser)
c.355G>T (p.Ala119Ser)
n.630G>T
21g.37065704C=CA2388296213PIGPc.283G= (p.Ala95=)
n.232G=
c.205G= (p.Ala69=)
c.355G= (p.Ala119=)
n.630G=
21g.37065704C>GCA409918564PIGPc.283G>C (p.Ala95Pro)
n.232G>C
c.205G>C (p.Ala69Pro)
c.355G>C (p.Ala119Pro)
n.630G>C
COSMIC
21g.37065704C>TCA10021045PIGPc.283G>A (p.Ala95Thr)
n.232G>A
c.205G>A (p.Ala69Thr)
c.355G>A (p.Ala119Thr)
n.630G>A
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37065704_37065706delinsCATCA2388296214PIGPc.281_283delinsATG (p.Tyr94=)
n.230_232delinsATG
c.203_205delinsATG (p.Tyr68=)
c.353_355delinsATG (p.Tyr118=)
n.628_630delinsATG
21g.37065705A=CA2388296215PIGPc.282T= (p.Tyr94=)
n.231T=
c.204T= (p.Tyr68=)
c.354T= (p.Tyr118=)
n.629T=
21g.37065705A>CCA409918567PIGPc.282T>G (p.Tyr94Ter)
n.231T>G
c.204T>G (p.Tyr68Ter)
c.354T>G (p.Tyr118Ter)
n.629T>G
21g.37065705A>GCA512083180PIGPc.282T>C (p.Tyr94=)
n.231T>C
c.204T>C (p.Tyr68=)
c.354T>C (p.Tyr118=)
n.629T>C
ClinVar dbSNP gnomAD v4
21g.37065705A>TCA409918569PIGPc.282T>A (p.Tyr94Ter)
n.231T>A
c.204T>A (p.Tyr68Ter)
c.354T>A (p.Tyr118Ter)
n.629T>A
21g.37065706_37065707delCA637791431PIGPc.281_282del (p.Tyr94CysfsTer23)
n.230_231del
c.203_204del (p.Tyr68CysfsTer23)
c.353_354del (p.Tyr118CysfsTer23)
n.628_629del
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched