Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.61397774G>ACA380685759TMEM216c.230G>A (p.Gly77Asp)
n.553G>A
n.292G>A
c.-21-8G>A (n.-21-8G>A)
c.276G>A (p.Arg92=)
c.47G>A (p.Gly16Asp)
11g.61397774G>CCA114039TMEM216c.230G>C (p.Gly77Ala)
n.553G>C
n.292G>C
c.-21-8G>C (n.-21-8G>C)
c.276G>C (p.Arg92Ser)
c.47G>C (p.Gly16Ala)
 ClinVar dbSNP
11g.61397774G=CA1977300050TMEM216c.230G= (p.Gly77=)
n.553G=
n.292G=
c.-21-8G= (n.-21-8G=)
c.276G= (p.Arg92=)
c.47G= (p.Gly16=)
11g.61397774G>TCA380685762TMEM216c.230G>T (p.Gly77Val)
n.553G>T
n.292G>T
c.-21-8G>T (n.-21-8G>T)
c.276G>T (p.Arg92Ser)
c.47G>T (p.Gly16Val)
 dbSNP
11g.61397775T>ACA474519393TMEM216c.231T>A (p.Gly77=)
n.554T>A
n.293T>A
c.-21-7T>A (n.-21-7T>A)
c.277T>A (p.Tyr93Asn)
c.48T>A (p.Gly16=)
11g.61397775T>CCA474519394TMEM216c.231T>C (p.Gly77=)
n.554T>C
n.293T>C
c.-21-7T>C (n.-21-7T>C)
c.277T>C (p.Tyr93His)
c.48T>C (p.Gly16=)
11g.61397775T>GCA474519395TMEM216c.231T>G (p.Gly77=)
n.554T>G
n.293T>G
c.-21-7T>G (n.-21-7T>G)
c.277T>G (p.Tyr93Asp)
c.48T>G (p.Gly16=)
11g.61397776A>CCA380685764TMEM216c.232A>C (p.Thr78Pro)
n.555A>C
n.294A>C
c.-21-6A>C (n.-21-6A>C)
c.278A>C (p.Tyr93Ser)
c.49A>C (p.Thr17Pro)
11g.61397776A>GCA380685766TMEM216c.232A>G (p.Thr78Ala)
n.555A>G
n.294A>G
c.-21-6A>G (n.-21-6A>G)
c.278A>G (p.Tyr93Cys)
c.49A>G (p.Thr17Ala)
 gnomAD v4
11g.61397776A>TCA380685768TMEM216c.232A>T (p.Thr78Ser)
n.555A>T
n.294A>T
c.-21-6A>T (n.-21-6A>T)
c.278A>T (p.Tyr93Phe)
c.49A>T (p.Thr17Ser)
11g.61397777C>ACA380685771TMEM216c.233C>A (p.Thr78Lys)
n.556C>A
n.295C>A
c.-21-5C>A (n.-21-5C>A)
c.279C>A (p.Tyr93Ter)
c.50C>A (p.Thr17Lys)
11g.61397777C=CA1977300058TMEM216c.233C= (p.Thr78=)
n.556C=
n.295C=
c.-21-5C= (n.-21-5C=)
c.279C= (p.Tyr93=)
c.50C= (p.Thr17=)
11g.61397777C>GCA380685773TMEM216c.233C>G (p.Thr78Arg)
n.556C>G
n.295C>G
c.-21-5C>G (n.-21-5C>G)
c.279C>G (p.Tyr93Ter)
c.50C>G (p.Thr17Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.61397777C>TCA380685776TMEM216c.233C>T (p.Thr78Ile)
n.556C>T
n.295C>T
c.-21-5C>T (n.-21-5C>T)
c.279C>T (p.Tyr93=)
c.50C>T (p.Thr17Ile)
11g.61397778A>CCA474519398TMEM216c.234A>C (p.Thr78=)
n.557A>C
n.296A>C
c.-21-4A>C (n.-21-4A>C)
c.280A>C (p.Lys94Gln)
c.51A>C (p.Thr17=)
11g.61397778A>GCA474519399TMEM216c.234A>G (p.Thr78=)
n.557A>G
n.296A>G
c.-21-4A>G (n.-21-4A>G)
c.280A>G (p.Lys94Glu)
c.51A>G (p.Thr17=)
11g.61397778A>TCA474519401TMEM216c.234A>T (p.Thr78=)
n.557A>T
n.296A>T
c.-21-4A>T (n.-21-4A>T)
c.280A>T (p.Lys94Ter)
c.51A>T (p.Thr17=)
11g.61397780delCA2739270464TMEM216c.236del (p.Lys79ArgfsTer17)
n.559del
n.298del
c.-21-2del (n.-21-2del)
c.282del (p.Lys96AsnfsTer?)
c.53del (p.Lys18ArgfsTer17)
 ClinVar
11g.61397779A>CCA380685785TMEM216c.235A>C (p.Lys79Gln)
n.558A>C
n.297A>C
c.-21-3A>C (n.-21-3A>C)
c.281A>C (p.Lys94Thr)
c.52A>C (p.Lys18Gln)
11g.61397779A>GCA380685783TMEM216c.235A>G (p.Lys79Glu)
n.558A>G
n.297A>G
c.-21-3A>G (n.-21-3A>G)
c.281A>G (p.Lys94Arg)
c.52A>G (p.Lys18Glu)
11g.61397779A>TCA380685780TMEM216c.235A>T (p.Lys79Ter)
n.558A>T
n.297A>T
c.-21-3A>T (n.-21-3A>T)
c.281A>T (p.Lys94Ile)
c.52A>T (p.Lys18Ter)
11g.61397780A>CCA380685788TMEM216c.236A>C (p.Lys79Thr)
n.559A>C
n.298A>C
c.-21-2A>C (n.-21-2A>C)
c.282A>C (p.Lys94Asn)
c.53A>C (p.Lys18Thr)
11g.61397780A>GCA380685790TMEM216c.236A>G (p.Lys79Arg)
n.559A>G
n.298A>G
c.-21-2A>G (n.-21-2A>G)
c.282A>G (p.Lys94=)
c.53A>G (p.Lys18Arg)
11g.61397780A>TCA380685792TMEM216c.236A>T (p.Lys79Met)
n.559A>T
n.298A>T
c.-21-2A>T (n.-21-2A>T)
c.282A>T (p.Lys94Asn)
c.53A>T (p.Lys18Met)
11g.61397781G>ACA474519407TMEM216c.237G>A (p.Lys79=)
n.560G>A
n.299G>A
c.-21-1G>A (n.-21-1G>A)
c.283G>A (p.Gly95Arg)
c.54G>A (p.Lys18=)
11g.61397781G>CCA380685794TMEM216c.237G>C (p.Lys79Asn)
n.560G>C
n.299G>C
c.-21-1G>C (n.-21-1G>C)
c.283G>C (p.Gly95Arg)
c.54G>C (p.Lys18Asn)
11g.61397781G>TCA380685796TMEM216c.237G>T (p.Lys79Asn)
n.560G>T
n.299G>T
c.-21-1G>T (n.-21-1G>T)
c.283G>T (p.Gly95Trp)
c.54G>T (p.Lys18Asn)
11g.61397782G>ACA380685799TMEM216c.238G>A (p.Gly80Arg)
n.561G>A
n.300G>A
c.-21G>A (n.-21G>A)
c.284G>A (p.Gly95Glu)
c.55G>A (p.Gly19Arg)
11g.61397782G>CCA380685801TMEM216c.238G>C (p.Gly80Arg)
n.561G>C
n.300G>C
c.-21G>C (n.-21G>C)
c.284G>C (p.Gly95Ala)
c.55G>C (p.Gly19Arg)
11g.61397782G>TCA380685803TMEM216c.238G>T (p.Gly80Ter)
n.561G>T
n.300G>T
c.-21G>T (n.-21G>T)
c.284G>T (p.Gly95Val)
c.55G>T (p.Gly19Ter)
11g.61397783G>ACA380685807TMEM216c.239G>A (p.Gly80Glu)
n.562G>A
n.301G>A
c.-20G>A (n.-20G>A)
c.285G>A (p.Gly95=)
c.56G>A (p.Gly19Glu)
 gnomAD v4
11g.61397783G>CCA380685809TMEM216c.239G>C (p.Gly80Ala)
n.562G>C
n.301G>C
c.-20G>C (n.-20G>C)
c.285G>C (p.Gly95=)
c.56G>C (p.Gly19Ala)
11g.61397783G>TCA380685811TMEM216c.239G>T (p.Gly80Val)
n.562G>T
n.301G>T
c.-20G>T (n.-20G>T)
c.285G>T (p.Gly95=)
c.56G>T (p.Gly19Val)
11g.61397784A>CCA474519414TMEM216c.240A>C (p.Gly80=)
n.563A>C
n.302A>C
c.-19A>C (n.-19A>C)
c.286A>C (p.Lys96Gln)
c.57A>C (p.Gly19=)
11g.61397784A>GCA474519416TMEM216c.240A>G (p.Gly80=)
n.563A>G
n.302A>G
c.-19A>G (n.-19A>G)
c.286A>G (p.Lys96Glu)
c.57A>G (p.Gly19=)
 ClinVar
11g.61397784A>TCA474519417TMEM216c.240A>T (p.Gly80=)
n.563A>T
n.302A>T
c.-19A>T (n.-19A>T)
c.286A>T (p.Lys96Ter)
c.57A>T (p.Gly19=)
11g.61397785A>CCA380685817TMEM216c.241A>C (p.Asn81His)
n.564A>C
n.303A>C
c.-18A>C (n.-18A>C)
c.287A>C (p.Lys96Thr)
c.58A>C (p.Asn20His)
11g.61397785A>GCA380685816TMEM216c.241A>G (p.Asn81Asp)
n.564A>G
n.303A>G
c.-18A>G (n.-18A>G)
c.287A>G (p.Lys96Arg)
c.58A>G (p.Asn20Asp)
11g.61397785A>TCA380685814TMEM216c.241A>T (p.Asn81Tyr)
n.564A>T
n.303A>T
c.-18A>T (n.-18A>T)
c.287A>T (p.Lys96Ile)
c.58A>T (p.Asn20Tyr)
11g.61397786A>CCA380685821TMEM216c.242A>C (p.Asn81Thr)
n.565A>C
n.304A>C
c.-17A>C (n.-17A>C)
c.288A>C (p.Lys96Asn)
c.59A>C (p.Asn20Thr)
11g.61397786A>GCA380685822TMEM216c.242A>G (p.Asn81Ser)
n.565A>G
n.304A>G
c.-17A>G (n.-17A>G)
c.288A>G (p.Lys96=)
c.59A>G (p.Asn20Ser)
11g.61397786A>TCA380685825TMEM216c.242A>T (p.Asn81Ile)
n.565A>T
n.304A>T
c.-17A>T (n.-17A>T)
c.288A>T (p.Lys96Asn)
c.59A>T (p.Asn20Ile)
11g.61397787C>ACA380685828TMEM216c.243C>A (p.Asn81Lys)
n.566C>A
n.305C>A
c.-16C>A (n.-16C>A)
c.289C>A (p.Pro97Thr)
c.60C>A (p.Asn20Lys)
 gnomAD v4
11g.61397787C>GCA380685829TMEM216c.243C>G (p.Asn81Lys)
n.566C>G
n.305C>G
c.-16C>G (n.-16C>G)
c.289C>G (p.Pro97Ala)
c.60C>G (p.Asn20Lys)
11g.61397787C>TCA474519422TMEM216c.243C>T (p.Asn81=)
n.566C>T
n.305C>T
c.-16C>T (n.-16C>T)
c.289C>T (p.Pro97Ser)
c.60C>T (p.Asn20=)
11g.61397788C>ACA380685831TMEM216c.244C>A (p.Leu82Ile)
n.567C>A
n.306C>A
c.-15C>A (n.-15C>A)
c.290C>A (p.Pro97His)
c.61C>A (p.Leu21Ile)
11g.61397788C>GCA380685833TMEM216c.244C>G (p.Leu82Val)
n.567C>G
n.306C>G
c.-15C>G (n.-15C>G)
c.290C>G (p.Pro97Arg)
c.61C>G (p.Leu21Val)
11g.61397788C>TCA380685836TMEM216c.244C>T (p.Leu82Phe)
n.567C>T
n.306C>T
c.-15C>T (n.-15C>T)
c.290C>T (p.Pro97Leu)
c.61C>T (p.Leu21Phe)
11g.61397789T>ACA380685839TMEM216c.245T>A (p.Leu82His)
n.568T>A
n.307T>A
c.-14T>A (n.-14T>A)
c.291T>A (p.Pro97=)
c.62T>A (p.Leu21His)
11g.61397789T>CCA380685841TMEM216c.245T>C (p.Leu82Pro)
n.568T>C
n.307T>C
c.-14T>C (n.-14T>C)
c.291T>C (p.Pro97=)
c.62T>C (p.Leu21Pro)
11g.61397789T>GCA380685843TMEM216c.245T>G (p.Leu82Arg)
n.568T>G
n.307T>G
c.-14T>G (n.-14T>G)
c.291T>G (p.Pro97=)
c.62T>G (p.Leu21Arg)
11g.61397790C>ACA474519424TMEM216c.246C>A (p.Leu82=)
n.569C>A
n.308C>A
c.-13C>A (n.-13C>A)
c.292C>A (p.Leu98Met)
c.63C>A (p.Leu21=)
11g.61397790C>GCA474519425TMEM216c.246C>G (p.Leu82=)
n.569C>G
n.308C>G
c.-13C>G (n.-13C>G)
c.292C>G (p.Leu98Val)
c.63C>G (p.Leu21=)
11g.61397790C>TCA474519426TMEM216c.246C>T (p.Leu82=)
n.569C>T
n.308C>T
c.-13C>T (n.-13C>T)
c.292C>T (p.Leu98=)
c.63C>T (p.Leu21=)
11g.61397791T>ACA380685852TMEM216c.247T>A (p.Cys83Ser)
n.570T>A
n.309T>A
c.-12T>A (n.-12T>A)
c.293T>A (p.Leu98Gln)
c.64T>A (p.Cys22Ser)
11g.61397791T>CCA380685849TMEM216c.247T>C (p.Cys83Arg)
n.570T>C
n.309T>C
c.-12T>C (n.-12T>C)
c.293T>C (p.Leu98Pro)
c.64T>C (p.Cys22Arg)
11g.61397791T>GCA380685847TMEM216c.247T>G (p.Cys83Gly)
n.570T>G
n.309T>G
c.-12T>G (n.-12T>G)
c.293T>G (p.Leu98Arg)
c.64T>G (p.Cys22Gly)
11g.61397792G>ACA6034731TMEM216c.248G>A (p.Cys83Tyr)
n.571G>A
n.310G>A
c.-11G>A (n.-11G>A)
c.294G>A (p.Leu98=)
c.65G>A (p.Cys22Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.61397792G>CCA380685857TMEM216c.248G>C (p.Cys83Ser)
n.571G>C
n.310G>C
c.-11G>C (n.-11G>C)
c.294G>C (p.Leu98=)
c.65G>C (p.Cys22Ser)
11g.61397792G=CA1977300062TMEM216c.248G= (p.Cys83=)
n.571G=
n.310G=
c.-11G= (n.-11G=)
c.294G= (p.Leu98=)
c.65G= (p.Cys22=)
11g.61397792G>TCA380685859TMEM216c.248G>T (p.Cys83Phe)
n.571G>T
n.310G>T
c.-11G>T (n.-11G>T)
c.294G>T (p.Leu98=)
c.65G>T (p.Cys22Phe)
 COSMIC COSMIC
11g.61397792_61397793delCA2697548689TMEM216c.248_249del (p.Cys83SerfsTer9)
n.571_572del
n.310_311del
c.-11_-10del (n.-11_-10del)
c.294_295del (p.Pro99SerfsTer12)
c.65_66del (p.Cys22SerfsTer9)
 ClinVar
11g.61397793C>ACA380685862TMEM216c.249C>A (p.Cys83Ter)
n.572C>A
n.311C>A
c.-10C>A (n.-10C>A)
c.295C>A (p.Pro99Thr)
c.66C>A (p.Cys22Ter)
 ClinVar dbSNP COSMIC COSMIC
11g.61397793C>GCA380685864TMEM216c.249C>G (p.Cys83Trp)
n.572C>G
n.311C>G
c.-10C>G (n.-10C>G)
c.295C>G (p.Pro99Ala)
c.66C>G (p.Cys22Trp)
11g.61397793C>TCA474519430TMEM216c.249C>T (p.Cys83=)
n.572C>T
n.311C>T
c.-10C>T (n.-10C>T)
c.295C>T (p.Pro99Ser)
c.66C>T (p.Cys22=)
 gnomAD v4
11g.61397794C>ACA380685866TMEM216c.250C>A (p.Gln84Lys)
n.573C>A
n.312C>A
c.-9C>A (n.-9C>A)
c.296C>A (p.Pro99Gln)
c.67C>A (p.Gln23Lys)
11g.61397794C=CA1977300064TMEM216c.250C= (p.Gln84=)
n.573C=
n.312C=
c.-9C= (n.-9C=)
c.296C= (p.Pro99=)
c.67C= (p.Gln23=)
11g.61397794C>GCA380685868TMEM216c.250C>G (p.Gln84Glu)
n.573C>G
n.312C>G
c.-9C>G (n.-9C>G)
c.296C>G (p.Pro99Arg)
c.67C>G (p.Gln23Glu)
11g.61397794C>TCA380685869TMEM216c.250C>T (p.Gln84Ter)
n.573C>T
n.312C>T
c.-9C>T (n.-9C>T)
c.296C>T (p.Pro99Leu)
c.67C>T (p.Gln23Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.61397795A>CCA380685873TMEM216c.251A>C (p.Gln84Pro)
n.574A>C
n.313A>C
c.-8A>C (n.-8A>C)
c.297A>C (p.Pro99=)
c.68A>C (p.Gln23Pro)
11g.61397795A>GCA380685876TMEM216c.251A>G (p.Gln84Arg)
n.574A>G
n.313A>G
c.-8A>G (n.-8A>G)
c.297A>G (p.Pro99=)
c.68A>G (p.Gln23Arg)
11g.61397795A>TCA380685878TMEM216c.251A>T (p.Gln84Leu)
n.574A>T
n.313A>T
c.-8A>T (n.-8A>T)
c.297A>T (p.Pro99=)
c.68A>T (p.Gln23Leu)
11g.61397796G>ACA474519433TMEM216c.252G>A (p.Gln84=)
n.575G>A
n.314G>A
c.-7G>A (n.-7G>A)
c.298G>A (p.Ala100Thr)
c.69G>A (p.Gln23=)
 dbSNP
11g.61397796G>CCA380685881TMEM216c.252G>C (p.Gln84His)
n.575G>C
n.314G>C
c.-7G>C (n.-7G>C)
c.298G>C (p.Ala100Pro)
c.69G>C (p.Gln23His)
11g.61397796G>TCA380685883TMEM216c.252G>T (p.Gln84His)
n.575G>T
n.314G>T
c.-7G>T (n.-7G>T)
c.298G>T (p.Ala100Ser)
c.69G>T (p.Gln23His)
11g.61397797C>ACA6034732TMEM216c.253C>A (p.Arg85=)
n.576C>A
n.315C>A
c.-6C>A (n.-6C>A)
c.299C>A (p.Ala100Glu)
c.70C>A (p.Arg24=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397797C=CA1977300071TMEM216c.253C= (p.Arg85=)
n.576C=
n.315C=
c.-6C= (n.-6C=)
c.299C= (p.Ala100=)
c.70C= (p.Arg24=)
11g.61397797C>GCA6034733TMEM216c.253C>G (p.Arg85Gly)
n.576C>G
n.315C>G
c.-6C>G (n.-6C>G)
c.299C>G (p.Ala100Gly)
c.70C>G (p.Arg24Gly)
 dbSNP ExAC gnomAD v2
11g.61397797C>TCA144308TMEM216c.253C>T (p.Arg85Ter)
n.576C>T
n.315C>T
c.-6C>T (n.-6C>T)
c.299C>T (p.Ala100Val)
c.70C>T (p.Arg24Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397798G>ACA6034734TMEM216c.254G>A (p.Arg85Gln)
n.577G>A
n.316G>A
c.-5G>A (n.-5G>A)
c.300G>A (p.Ala100=)
c.71G>A (p.Arg24Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397798G>CCA380685893TMEM216c.254G>C (p.Arg85Pro)
n.577G>C
n.316G>C
c.-5G>C (n.-5G>C)
c.300G>C (p.Ala100=)
c.71G>C (p.Arg24Pro)
11g.61397798G=CA1977300082TMEM216c.254G= (p.Arg85=)
n.577G=
n.316G=
c.-5G= (n.-5G=)
c.300G= (p.Ala100=)
c.71G= (p.Arg24=)
11g.61397798G>TCA380685896TMEM216c.254G>T (p.Arg85Leu)
n.577G>T
n.316G>T
c.-5G>T (n.-5G>T)
c.300G>T (p.Ala100=)
c.71G>T (p.Arg24Leu)
11g.61397799A>CCA474519439TMEM216c.255A>C (p.Arg85=)
n.578A>C
n.317A>C
c.-4A>C (n.-4A>C)
c.301A>C (p.Lys101Gln)
c.72A>C (p.Arg24=)
11g.61397799A>GCA474519440TMEM216c.255A>G (p.Arg85=)
n.578A>G
n.317A>G
c.-4A>G (n.-4A>G)
c.301A>G (p.Lys101Glu)
c.72A>G (p.Arg24=)
11g.61397799A>TCA474519441TMEM216c.255A>T (p.Arg85=)
n.578A>T
n.317A>T
c.-4A>T (n.-4A>T)
c.301A>T (p.Lys101Ter)
c.72A>T (p.Arg24=)
11g.61397800A>CCA380685899TMEM216c.256A>C (p.Lys86Gln)
n.579A>C
n.318A>C
c.-3A>C (n.-3A>C)
c.302A>C (p.Lys101Thr)
c.73A>C (p.Lys25Gln)
 gnomAD v4
11g.61397800A>GCA380685901TMEM216c.256A>G (p.Lys86Glu)
n.579A>G
n.318A>G
c.-3A>G (n.-3A>G)
c.302A>G (p.Lys101Arg)
c.73A>G (p.Lys25Glu)
11g.61397800A>TCA380685904TMEM216c.256A>T (p.Lys86Ter)
n.579A>T
n.318A>T
c.-3A>T (n.-3A>T)
c.302A>T (p.Lys101Ile)
c.73A>T (p.Lys25Ter)
11g.61397801A=CA1977300084TMEM216c.257A= (p.Lys86=)
n.580A=
n.319A=
c.-2A= (n.-2A=)
c.303A= (p.Lys101=)
c.74A= (p.Lys25=)
11g.61397801A>CCA380685911TMEM216c.257A>C (p.Lys86Thr)
n.580A>C
n.319A>C
c.-2A>C (n.-2A>C)
c.303A>C (p.Lys101Asn)
c.74A>C (p.Lys25Thr)
11g.61397801A>GCA380685907TMEM216c.257A>G (p.Lys86Arg)
n.580A>G
n.319A>G
c.-2A>G (n.-2A>G)
c.303A>G (p.Lys101=)
c.74A>G (p.Lys25Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.61397801A>TCA380685909TMEM216c.257A>T (p.Lys86Met)
n.580A>T
n.319A>T
c.-2A>T (n.-2A>T)
c.303A>T (p.Lys101Asn)
c.74A>T (p.Lys25Met)
11g.61397802G>ACA474519446TMEM216c.258G>A (p.Lys86=)
n.581G>A
n.320G>A
c.-1G>A (n.-1G>A)
c.304G>A (p.Asp102Asn)
c.75G>A (p.Lys25=)
11g.61397802G>CCA380685912TMEM216c.258G>C (p.Lys86Asn)
n.581G>C
n.320G>C
c.-1G>C (n.-1G>C)
c.304G>C (p.Asp102His)
c.75G>C (p.Lys25Asn)
11g.61397802G>TCA380685913TMEM216c.258G>T (p.Lys86Asn)
n.581G>T
n.320G>T
c.-1G>T (n.-1G>T)
c.304G>T (p.Asp102Tyr)
c.75G>T (p.Lys25Asn)
11g.61397803A=CA1977300089TMEM216c.259A= (p.Met87=)
n.582A=
n.321A=
c.1A= (p.Met1=)
c.305A= (p.Asp102=)
c.76A= (p.Met26=)
11g.61397803A>CCA380685915TMEM216c.259A>C (p.Met87Leu)
n.582A>C
n.321A>C
c.1A>C (p.Met1Leu)
c.305A>C (p.Asp102Ala)
c.76A>C (p.Met26Leu)
11g.61397803A>GCA6034735TMEM216c.259A>G (p.Met87Val)
n.582A>G
n.321A>G
c.1A>G (p.Met1Val)
c.305A>G (p.Asp102Gly)
c.76A>G (p.Met26Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397803A>TCA380685917TMEM216c.259A>T (p.Met87Leu)
n.582A>T
n.321A>T
c.1A>T (p.Met1Leu)
c.305A>T (p.Asp102Val)
c.76A>T (p.Met26Leu)
 gnomAD v4
11g.61397804T>ACA380685925TMEM216c.260T>A (p.Met87Lys)
n.583T>A
n.322T>A
c.2T>A (p.Met1Lys)
c.306T>A (p.Asp102Glu)
c.77T>A (p.Met26Lys)
11g.61397804T>CCA380685921TMEM216c.260T>C (p.Met87Thr)
n.583T>C
n.322T>C
c.2T>C (p.Met1Thr)
c.306T>C (p.Asp102=)
c.77T>C (p.Met26Thr)
11g.61397804T>GCA380685923TMEM216c.260T>G (p.Met87Arg)
n.583T>G
n.322T>G
c.2T>G (p.Met1Arg)
c.306T>G (p.Asp102Glu)
c.77T>G (p.Met26Arg)
11g.61397805G>ACA380685928TMEM216c.261G>A (p.Met87Ile)
n.584G>A
n.323G>A
c.3G>A (p.Met1Ile)
c.307G>A (p.Ala103Thr)
c.78G>A (p.Met26Ile)
11g.61397805G>CCA380685930TMEM216c.261G>C (p.Met87Ile)
n.584G>C
n.323G>C
c.3G>C (p.Met1Ile)
c.307G>C (p.Ala103Pro)
c.78G>C (p.Met26Ile)
11g.61397805G>TCA380685932TMEM216c.261G>T (p.Met87Ile)
n.584G>T
n.323G>T
c.3G>T (p.Met1Ile)
c.307G>T (p.Ala103Ser)
c.78G>T (p.Met26Ile)
 dbSNP
11g.61397806C>ACA222898101TMEM216c.262C>A (p.Pro88Thr)
n.585C>A
n.324C>A
c.4C>A (p.Pro2Thr)
c.308C>A (p.Ala103Asp)
c.79C>A (p.Pro27Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.61397806C=CA1977300091TMEM216c.262C= (p.Pro88=)
n.585C=
n.324C=
c.4C= (p.Pro2=)
c.308C= (p.Ala103=)
c.79C= (p.Pro27=)
11g.61397806C>GCA380685935TMEM216c.262C>G (p.Pro88Ala)
n.585C>G
n.324C>G
c.4C>G (p.Pro2Ala)
c.308C>G (p.Ala103Gly)
c.79C>G (p.Pro27Ala)
11g.61397806C>TCA380685937TMEM216c.262C>T (p.Pro88Ser)
n.585C>T
n.324C>T
c.4C>T (p.Pro2Ser)
c.308C>T (p.Ala103Val)
c.79C>T (p.Pro27Ser)
 dbSNP gnomAD v2
11g.61397807C>ACA380685941TMEM216c.263C>A (p.Pro88Gln)
n.586C>A
n.325C>A
c.5C>A (p.Pro2Gln)
c.309C>A (p.Ala103=)
c.80C>A (p.Pro27Gln)
11g.61397807C=CA1977300095TMEM216c.263C= (p.Pro88=)
n.586C=
n.325C=
c.5C= (p.Pro2=)
c.309C= (p.Ala103=)
c.80C= (p.Pro27=)
11g.61397807C>GCA380685943TMEM216c.263C>G (p.Pro88Arg)
n.586C>G
n.325C>G
c.5C>G (p.Pro2Arg)
c.309C>G (p.Ala103=)
c.80C>G (p.Pro27Arg)
11g.61397807C>TCA6034736TMEM216c.263C>T (p.Pro88Leu)
n.586C>T
n.325C>T
c.5C>T (p.Pro2Leu)
c.309C>T (p.Ala103=)
c.80C>T (p.Pro27Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.61397808G>ACA150976TMEM216c.264G>A (p.Pro88=)
n.587G>A
n.326G>A
c.6G>A (p.Pro2=)
c.310G>A (p.Ala104Thr)
c.81G>A (p.Pro27=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397808G>CCA474519447TMEM216c.264G>C (p.Pro88=)
n.587G>C
n.326G>C
c.6G>C (p.Pro2=)
c.310G>C (p.Ala104Pro)
c.81G>C (p.Pro27=)
 ClinVar dbSNP
11g.61397808G=CA1977300101TMEM216c.264G= (p.Pro88=)
n.587G=
n.326G=
c.6G= (p.Pro2=)
c.310G= (p.Ala104=)
c.81G= (p.Pro27=)
11g.61397808G>TCA474519448TMEM216c.264G>T (p.Pro88=)
n.587G>T
n.326G>T
c.6G>T (p.Pro2=)
c.310G>T (p.Ala104Ser)
c.81G>T (p.Pro27=)
11g.61397808_61397809delinsAGCA2573147250TMEM216c.264_265delinsAG (p.Leu89Val)
n.587_588delinsAG
n.326_327delinsAG
c.6_7delinsAG (p.Leu3Val)
c.310_311delinsAG (p.Ala104Ser)
c.81_82delinsAG (p.Leu28Val)
 ClinVar dbSNP
11g.61397808_61397809delinsATCA1977300106TMEM216c.264_265delinsAT (p.Leu89Phe)
n.587_588delinsAT
n.326_327delinsAT
c.6_7delinsAT (p.Leu3Phe)
c.310_311delinsAT (p.Ala104Ile)
c.81_82delinsAT (p.Leu28Phe)
 ClinVar dbSNP
11g.61397808_61397809delinsGCCA1977300104TMEM216c.264_265delinsGC (p.Pro88=)
n.587_588delinsGC
n.326_327delinsGC
c.6_7delinsGC (p.Pro2=)
c.310_311delinsGC (p.Ala104=)
c.81_82delinsGC (p.Pro27=)
11g.61397809C>ACA380685947TMEM216c.265C>A (p.Leu89Ile)
n.588C>A
n.327C>A
c.7C>A (p.Leu3Ile)
c.311C>A (p.Ala104Asp)
c.82C>A (p.Leu28Ile)
11g.61397809C=CA1977300113TMEM216c.265C= (p.Leu89=)
n.588C=
n.327C=
c.7C= (p.Leu3=)
c.311C= (p.Ala104=)
c.82C= (p.Leu28=)
11g.61397809C>GCA380685950TMEM216c.265C>G (p.Leu89Val)
n.588C>G
n.327C>G
c.7C>G (p.Leu3Val)
c.311C>G (p.Ala104Gly)
c.82C>G (p.Leu28Val)
 dbSNP gnomAD v4
11g.61397809C>TCA6034737TMEM216c.265C>T (p.Leu89Phe)
n.588C>T
n.327C>T
c.7C>T (p.Leu3Phe)
c.311C>T (p.Ala104Val)
c.82C>T (p.Leu28Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397810T>ACA380685954TMEM216c.266T>A (p.Leu89His)
n.589T>A
n.328T>A
c.8T>A (p.Leu3His)
c.312T>A (p.Ala104=)
c.83T>A (p.Leu28His)
11g.61397810T>CCA380685958TMEM216c.266T>C (p.Leu89Pro)
n.589T>C
n.328T>C
c.8T>C (p.Leu3Pro)
c.312T>C (p.Ala104=)
c.83T>C (p.Leu28Pro)
11g.61397810T>GCA380685956TMEM216c.266T>G (p.Leu89Arg)
n.589T>G
n.328T>G
c.8T>G (p.Leu3Arg)
c.312T>G (p.Ala104=)
c.83T>G (p.Leu28Arg)
11g.61397811C>ACA474519449TMEM216c.267C>A (p.Leu89=)
n.590C>A
n.329C>A
c.9C>A (p.Leu3=)
c.313C>A (p.Gln105Lys)
c.84C>A (p.Leu28=)
11g.61397811C>GCA474519450TMEM216c.267C>G (p.Leu89=)
n.590C>G
n.329C>G
c.9C>G (p.Leu3=)
c.313C>G (p.Gln105Glu)
c.84C>G (p.Leu28=)
 gnomAD v4
11g.61397811C>TCA474519451TMEM216c.267C>T (p.Leu89=)
n.590C>T
n.329C>T
c.9C>T (p.Leu3=)
c.313C>T (p.Gln105Ter)
c.84C>T (p.Leu28=)
 gnomAD v3 gnomAD v4
11g.61397812A>CCA380685962TMEM216c.268A>C (p.Ser90Arg)
n.591A>C
n.330A>C
c.10A>C (p.Ser4Arg)
c.314A>C (p.Gln105Pro)
c.85A>C (p.Ser29Arg)
11g.61397812A>GCA380685964TMEM216c.268A>G (p.Ser90Gly)
n.591A>G
n.330A>G
c.10A>G (p.Ser4Gly)
c.314A>G (p.Gln105Arg)
c.85A>G (p.Ser29Gly)
 gnomAD v3 gnomAD v4
11g.61397812A>TCA380685967TMEM216c.268A>T (p.Ser90Cys)
n.591A>T
n.330A>T
c.10A>T (p.Ser4Cys)
c.314A>T (p.Gln105Leu)
c.85A>T (p.Ser29Cys)
11g.61397813G>ACA6034738TMEM216c.269G>A (p.Ser90Asn)
n.592G>A
n.331G>A
c.11G>A (p.Ser4Asn)
c.315G>A (p.Gln105=)
c.86G>A (p.Ser29Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.61397813G>CCA380685972TMEM216c.269G>C (p.Ser90Thr)
n.592G>C
n.331G>C
c.11G>C (p.Ser4Thr)
c.315G>C (p.Gln105His)
c.86G>C (p.Ser29Thr)
 gnomAD v4
11g.61397813G=CA1977300118TMEM216c.269G= (p.Ser90=)
n.592G=
n.331G=
c.11G= (p.Ser4=)
c.315G= (p.Gln105=)
c.86G= (p.Ser29=)
11g.61397813G>TCA380685974TMEM216c.269G>T (p.Ser90Ile)
n.592G>T
n.331G>T
c.11G>T (p.Ser4Ile)
c.315G>T (p.Gln105His)
c.86G>T (p.Ser29Ile)
11g.61397814T>ACA380685977TMEM216c.270T>A (p.Ser90Arg)
n.593T>A
n.332T>A
c.12T>A (p.Ser4Arg)
c.316T>A (p.Tyr106Asn)
c.87T>A (p.Ser29Arg)
11g.61397814T>CCA474519452TMEM216c.270T>C (p.Ser90=)
n.593T>C
n.332T>C
c.12T>C (p.Ser4=)
c.316T>C (p.Tyr106His)
c.87T>C (p.Ser29=)
11g.61397814T>GCA380685980TMEM216c.270T>G (p.Ser90Arg)
n.593T>G
n.332T>G
c.12T>G (p.Ser4Arg)
c.316T>G (p.Tyr106Asp)
c.87T>G (p.Ser29Arg)
11g.61397815A=CA1977300120TMEM216c.271A= (p.Ile91=)
n.594A=
n.333A=
c.13A= (p.Ile5=)
c.317A= (p.Tyr106=)
c.88A= (p.Ile30=)
11g.61397815A>CCA380685983TMEM216c.271A>C (p.Ile91Leu)
n.594A>C
n.333A>C
c.13A>C (p.Ile5Leu)
c.317A>C (p.Tyr106Ser)
c.88A>C (p.Ile30Leu)
11g.61397815A>GCA380685985TMEM216c.271A>G (p.Ile91Val)
n.594A>G
n.333A>G
c.13A>G (p.Ile5Val)
c.317A>G (p.Tyr106Cys)
c.88A>G (p.Ile30Val)
 dbSNP
11g.61397815A>TCA380685988TMEM216c.271A>T (p.Ile91Phe)
n.594A>T
n.333A>T
c.13A>T (p.Ile5Phe)
c.317A>T (p.Tyr106Phe)
c.88A>T (p.Ile30Phe)
11g.61397816T>ACA380685989TMEM216c.272T>A (p.Ile91Asn)
n.595T>A
n.334T>A
c.14T>A (p.Ile5Asn)
c.318T>A (p.Tyr106Ter)
c.89T>A (p.Ile30Asn)
11g.61397816T>CCA380685991TMEM216c.272T>C (p.Ile91Thr)
n.595T>C
n.334T>C
c.14T>C (p.Ile5Thr)
c.318T>C (p.Tyr106=)
c.89T>C (p.Ile30Thr)
11g.61397816T>GCA380685993TMEM216c.272T>G (p.Ile91Ser)
n.595T>G
n.334T>G
c.14T>G (p.Ile5Ser)
c.318T>G (p.Tyr106Ter)
c.89T>G (p.Ile30Ser)
11g.61397817T>ACA474519454TMEM216c.273T>A (p.Ile91=)
n.596T>A
n.335T>A
c.15T>A (p.Ile5=)
c.319T>A (p.Ter107Lys)
c.90T>A (p.Ile30=)
11g.61397817T>CCA474519453TMEM216c.273T>C (p.Ile91=)
n.596T>C
n.335T>C
c.15T>C (p.Ile5=)
c.319T>C (p.Ter107Gln)
c.90T>C (p.Ile30=)
 ClinVar dbSNP gnomAD v4
11g.61397817T>GCA380685996TMEM216c.273T>G (p.Ile91Met)
n.596T>G
n.335T>G
c.15T>G (p.Ile5Met)
c.319T>G (p.Ter107Glu)
c.90T>G (p.Ile30Met)
 gnomAD v4
11g.61397817T=CA1977300122TMEM216c.273T= (p.Ile91=)
n.596T=
n.335T=
c.15T= (p.Ile5=)
c.319T= (p.Ter107=)
c.90T= (p.Ile30=)
11g.61397818A=CA1977300125TMEM216c.274A= (p.Ser92=)
n.597A=
n.336A=
c.16A= (p.Ser6=)
c.320A= (p.Ter107=)
c.91A= (p.Ser31=)
11g.61397818A>CCA380685999TMEM216c.274A>C (p.Ser92Arg)
n.597A>C
n.336A>C
c.16A>C (p.Ser6Arg)
c.320A>C (p.Ter107Ser)
c.91A>C (p.Ser31Arg)
11g.61397818A>GCA380686001TMEM216c.274A>G (p.Ser92Gly)
n.597A>G
n.336A>G
c.16A>G (p.Ser6Gly)
c.320A>G (p.Ter107Trp)
c.91A>G (p.Ser31Gly)
 dbSNP COSMIC COSMIC
11g.61397818A>TCA380686002TMEM216c.274A>T (p.Ser92Cys)
n.597A>T
n.336A>T
c.16A>T (p.Ser6Cys)
c.320A>T (p.Ter107Leu)
c.91A>T (p.Ser31Cys)
11g.61397819G>ACA380686005TMEM216c.275G>A (p.Ser92Asn)
n.598G>A
n.337G>A
c.17G>A (p.Ser6Asn)
c.321G>A (p.Ter107=)
c.92G>A (p.Ser31Asn)
11g.61397819G>CCA380686007TMEM216c.275G>C (p.Ser92Thr)
n.598G>C
n.337G>C
c.17G>C (p.Ser6Thr)
c.321G>C (p.Ter107Tyr)
c.92G>C (p.Ser31Thr)
 gnomAD v4
11g.61397819G>TCA380686009TMEM216c.275G>T (p.Ser92Ile)
n.598G>T
n.337G>T
c.17G>T (p.Ser6Ile)
c.321G>T (p.Ter107Tyr)
c.92G>T (p.Ser31Ile)
11g.61397820C>ACA380686012TMEM216c.276C>A (p.Ser92Arg)
n.599C>A
n.338C>A
c.18C>A (p.Ser6Arg)
c.*1C>A (n.*1C>A)
c.93C>A (p.Ser31Arg)
 gnomAD v3 gnomAD v4
11g.61397820C=CA1977300127TMEM216c.276C= (p.Ser92=)
n.599C=
n.338C=
c.18C= (p.Ser6=)
c.*1C= (n.*1C=)
c.93C= (p.Ser31=)
11g.61397820C>GCA380686014TMEM216c.276C>G (p.Ser92Arg)
n.599C>G
n.338C>G
c.18C>G (p.Ser6Arg)
c.*1C>G (n.*1C>G)
c.93C>G (p.Ser31Arg)
11g.61397820C>TCA6034739TMEM216c.276C>T (p.Ser92=)
n.599C>T
n.338C>T
c.18C>T (p.Ser6=)
c.*1C>T (n.*1C>T)
c.93C>T (p.Ser31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397821G>ACA6034740TMEM216c.277G>A (p.Val93Met)
n.600G>A
n.339G>A
c.19G>A (p.Val7Met)
c.*2G>A (n.*2G>A)
c.94G>A (p.Val32Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397821G>CCA380686021TMEM216c.277G>C (p.Val93Leu)
n.600G>C
n.339G>C
c.19G>C (p.Val7Leu)
c.*2G>C (n.*2G>C)
c.94G>C (p.Val32Leu)
11g.61397821G=CA1977300131TMEM216c.277G= (p.Val93=)
n.600G=
n.339G=
c.19G= (p.Val7=)
c.*2G= (n.*2G=)
c.94G= (p.Val32=)
11g.61397821G>TCA380686024TMEM216c.277G>T (p.Val93Leu)
n.600G>T
n.339G>T
c.19G>T (p.Val7Leu)
c.*2G>T (n.*2G>T)
c.94G>T (p.Val32Leu)
11g.61397822T>ACA380686032TMEM216c.278T>A (p.Val93Glu)
n.601T>A
n.340T>A
c.20T>A (p.Val7Glu)
c.*3T>A (n.*3T>A)
c.95T>A (p.Val32Glu)
11g.61397822T>CCA380686030TMEM216c.278T>C (p.Val93Ala)
n.601T>C
n.340T>C
c.20T>C (p.Val7Ala)
c.*3T>C (n.*3T>C)
c.95T>C (p.Val32Ala)
11g.61397822T>GCA380686027TMEM216c.278T>G (p.Val93Gly)
n.601T>G
n.340T>G
c.20T>G (p.Val7Gly)
c.*3T>G (n.*3T>G)
c.95T>G (p.Val32Gly)
11g.61397823G>ACA474519455TMEM216c.279G>A (p.Val93=)
n.602G>A
n.341G>A
c.21G>A (p.Val7=)
c.*4G>A (n.*4G>A)
c.96G>A (p.Val32=)
 ClinVar
11g.61397823G>CCA474519456TMEM216c.279G>C (p.Val93=)
n.602G>C
n.341G>C
c.21G>C (p.Val7=)
c.*4G>C (n.*4G>C)
c.96G>C (p.Val32=)
11g.61397823G>TCA474519457TMEM216c.279G>T (p.Val93=)
n.602G>T
n.341G>T
c.21G>T (p.Val7=)
c.*4G>T (n.*4G>T)
c.96G>T (p.Val32=)
11g.61397824G>ACA380686035TMEM216c.280G>A (p.Ala94Thr)
n.603G>A
n.342G>A
c.22G>A (p.Ala8Thr)
c.*5G>A (n.*5G>A)
c.97G>A (p.Ala33Thr)
11g.61397824G>CCA380686039TMEM216c.280G>C (p.Ala94Pro)
n.603G>C
n.342G>C
c.22G>C (p.Ala8Pro)
c.*5G>C (n.*5G>C)
c.97G>C (p.Ala33Pro)
11g.61397824G>TCA380686037TMEM216c.280G>T (p.Ala94Ser)
n.603G>T
n.342G>T
c.22G>T (p.Ala8Ser)
c.*5G>T (n.*5G>T)
c.97G>T (p.Ala33Ser)
11g.61397825C>ACA380686042TMEM216c.281C>A (p.Ala94Asp)
n.604C>A
n.343C>A
c.23C>A (p.Ala8Asp)
c.*6C>A (n.*6C>A)
c.98C>A (p.Ala33Asp)
11g.61397825C=CA1977300136TMEM216c.281C= (p.Ala94=)
n.604C=
n.343C=
c.23C= (p.Ala8=)
c.*6C= (n.*6C=)
c.98C= (p.Ala33=)
11g.61397825C>GCA380686046TMEM216c.281C>G (p.Ala94Gly)
n.604C>G
n.343C>G
c.23C>G (p.Ala8Gly)
c.*6C>G (n.*6C>G)
c.98C>G (p.Ala33Gly)
11g.61397825C>TCA380686044TMEM216c.281C>T (p.Ala94Val)
n.604C>T
n.343C>T
c.23C>T (p.Ala8Val)
c.*6C>T (n.*6C>T)
c.98C>T (p.Ala33Val)
 dbSNP
11g.61397826C>ACA474519458TMEM216c.282C>A (p.Ala94=)
n.605C>A
n.344C>A
c.24C>A (p.Ala8=)
c.*7C>A (n.*7C>A)
c.99C>A (p.Ala33=)
 ClinVar dbSNP
11g.61397826C>GCA474519459TMEM216c.282C>G (p.Ala94=)
n.605C>G
n.344C>G
c.24C>G (p.Ala8=)
c.*7C>G (n.*7C>G)
c.99C>G (p.Ala33=)
 gnomAD v4
11g.61397826C>TCA474519460TMEM216c.282C>T (p.Ala94=)
n.605C>T
n.344C>T
c.24C>T (p.Ala8=)
c.*7C>T (n.*7C>T)
c.99C>T (p.Ala33=)
 ClinVar
11g.61397827T>ACA380686049TMEM216c.283T>A (p.Leu95Met)
n.606T>A
n.345T>A
c.25T>A (p.Leu9Met)
c.*8T>A (n.*8T>A)
c.100T>A (p.Leu34Met)
11g.61397827T>CCA474519461TMEM216c.283T>C (p.Leu95=)
n.606T>C
n.345T>C
c.25T>C (p.Leu9=)
c.*8T>C (n.*8T>C)
c.100T>C (p.Leu34=)
11g.61397827T>GCA6034741TMEM216c.283T>G (p.Leu95Val)
n.606T>G
n.345T>G
c.25T>G (p.Leu9Val)
c.*8T>G (n.*8T>G)
c.100T>G (p.Leu34Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.61397827T=CA1977300143TMEM216c.283T= (p.Leu95=)
n.606T=
n.345T=
c.25T= (p.Leu9=)
c.*8T= (n.*8T=)
c.100T= (p.Leu34=)
11g.61397828T>ACA380686054TMEM216c.284T>A (p.Leu95Ter)
n.607T>A
n.346T>A
c.26T>A (p.Leu9Ter)
c.*9T>A (n.*9T>A)
c.101T>A (p.Leu34Ter)
11g.61397828T>CCA380686057TMEM216c.284T>C (p.Leu95Ser)
n.607T>C
n.346T>C
c.26T>C (p.Leu9Ser)
c.*9T>C (n.*9T>C)
c.101T>C (p.Leu34Ser)
11g.61397828T>GCA380686060TMEM216c.284T>G (p.Leu95Trp)
n.607T>G
n.346T>G
c.26T>G (p.Leu9Trp)
c.*9T>G (n.*9T>G)
c.101T>G (p.Leu34Trp)
11g.61397829G>ACA474519462TMEM216c.285G>A (p.Leu95=)
n.608G>A
n.347G>A
c.27G>A (p.Leu9=)
c.*10G>A (n.*10G>A)
c.102G>A (p.Leu34=)
11g.61397829G>CCA380686062TMEM216c.285G>C (p.Leu95Phe)
n.608G>C
n.347G>C
c.27G>C (p.Leu9Phe)
c.*10G>C (n.*10G>C)
c.102G>C (p.Leu34Phe)
11g.61397829G>TCA380686064TMEM216c.285G>T (p.Leu95Phe)
n.608G>T
n.347G>T
c.27G>T (p.Leu9Phe)
c.*10G>T (n.*10G>T)
c.102G>T (p.Leu34Phe)
11g.61397830A>CCA380686067TMEM216c.286A>C (p.Thr96Pro)
n.609A>C
n.348A>C
c.28A>C (p.Thr10Pro)
c.*11A>C (n.*11A>C)
c.103A>C (p.Thr35Pro)
11g.61397830A>GCA380686069TMEM216c.286A>G (p.Thr96Ala)
n.609A>G
n.348A>G
c.28A>G (p.Thr10Ala)
c.*11A>G (n.*11A>G)
c.103A>G (p.Thr35Ala)
11g.61397830A>TCA380686071TMEM216c.286A>T (p.Thr96Ser)
n.609A>T
n.348A>T
c.28A>T (p.Thr10Ser)
c.*11A>T (n.*11A>T)
c.103A>T (p.Thr35Ser)
11g.61397831C>ACA380686078TMEM216c.287C>A (p.Thr96Asn)
n.610C>A
n.349C>A
c.29C>A (p.Thr10Asn)
c.*12C>A (n.*12C>A)
c.104C>A (p.Thr35Asn)
11g.61397831C>GCA380686076TMEM216c.287C>G (p.Thr96Ser)
n.610C>G
n.349C>G
c.29C>G (p.Thr10Ser)
c.*12C>G (n.*12C>G)
c.104C>G (p.Thr35Ser)
11g.61397831C>TCA380686074TMEM216c.287C>T (p.Thr96Ile)
n.610C>T
n.349C>T
c.29C>T (p.Thr10Ile)
c.*12C>T (n.*12C>T)
c.104C>T (p.Thr35Ile)
11g.61397832C>ACA474519463TMEM216c.288C>A (p.Thr96=)
n.611C>A
n.350C>A
c.30C>A (p.Thr10=)
c.*13C>A (n.*13C>A)
c.105C>A (p.Thr35=)
11g.61397832C>GCA474519464TMEM216c.288C>G (p.Thr96=)
n.611C>G
n.350C>G
c.30C>G (p.Thr10=)
c.*13C>G (n.*13C>G)
c.105C>G (p.Thr35=)
11g.61397832C>TCA474519465TMEM216c.288C>T (p.Thr96=)
n.611C>T
n.350C>T
c.30C>T (p.Thr10=)
c.*13C>T (n.*13C>T)
c.105C>T (p.Thr35=)
 gnomAD v4
11g.61397833T>ACA6034742TMEM216c.289T>A (p.Phe97Ile)
n.612T>A
n.351T>A
c.31T>A (p.Phe11Ile)
c.*14T>A (n.*14T>A)
c.106T>A (p.Phe36Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397833T>CCA380686083TMEM216c.289T>C (p.Phe97Leu)
n.612T>C
n.351T>C
c.31T>C (p.Phe11Leu)
c.*14T>C (n.*14T>C)
c.106T>C (p.Phe36Leu)
11g.61397833T>GCA380686085TMEM216c.289T>G (p.Phe97Val)
n.612T>G
n.351T>G
c.31T>G (p.Phe11Val)
c.*14T>G (n.*14T>G)
c.106T>G (p.Phe36Val)
11g.61397833T=CA1977300146TMEM216c.289T= (p.Phe97=)
n.612T=
n.351T=
c.31T= (p.Phe11=)
c.*14T= (n.*14T=)
c.106T= (p.Phe36=)
11g.61397834T>ACA380686088TMEM216c.290T>A (p.Phe97Tyr)
n.613T>A
n.352T>A
c.32T>A (p.Phe11Tyr)
c.*15T>A (n.*15T>A)
c.107T>A (p.Phe36Tyr)
11g.61397834T>CCA380686089TMEM216c.290T>C (p.Phe97Ser)
n.613T>C
n.352T>C
c.32T>C (p.Phe11Ser)
c.*15T>C (n.*15T>C)
c.107T>C (p.Phe36Ser)
11g.61397834T>GCA380686091TMEM216c.290T>G (p.Phe97Cys)
n.613T>G
n.352T>G
c.32T>G (p.Phe11Cys)
c.*15T>G (n.*15T>G)
c.107T>G (p.Phe36Cys)
11g.61397834_61397835delinsTCCA1977300151TMEM216c.290_291delinsTC (p.Phe97=)
n.613_614delinsTC
n.352_353delinsTC
c.32_33delinsTC (p.Phe11=)
c.*15_*16delinsTC (n.*15_*16delinsTC)
c.107_108delinsTC (p.Phe36=)
11g.61397835C>ACA380686094TMEM216c.291C>A (p.Phe97Leu)
n.614C>A
n.353C>A
c.33C>A (p.Phe11Leu)
c.*16C>A (n.*16C>A)
c.108C>A (p.Phe36Leu)
11g.61397835C>GCA380686095TMEM216c.291C>G (p.Phe97Leu)
n.614C>G
n.353C>G
c.33C>G (p.Phe11Leu)
c.*16C>G (n.*16C>G)
c.108C>G (p.Phe36Leu)
11g.61397835C>TCA474519466TMEM216c.291C>T (p.Phe97=)
n.614C>T
n.353C>T
c.33C>T (p.Phe11=)
c.*16C>T (n.*16C>T)
c.108C>T (p.Phe36=)
11g.61397837delCA222898138TMEM216c.293del (p.Pro98HisfsTer4)
n.616del
n.355del
c.35del (p.Pro12HisfsTer4)
c.*18del (n.*18del)
c.110del (p.Pro37HisfsTer4)
 dbSNP
11g.61397836C>ACA380686099TMEM216c.292C>A (p.Pro98Thr)
n.615C>A
n.354C>A
c.34C>A (p.Pro12Thr)
c.*17C>A (n.*17C>A)
c.109C>A (p.Pro37Thr)
11g.61397836C>GCA380686101TMEM216c.292C>G (p.Pro98Ala)
n.615C>G
n.354C>G
c.34C>G (p.Pro12Ala)
c.*17C>G (n.*17C>G)
c.109C>G (p.Pro37Ala)
11g.61397836C>TCA380686103TMEM216c.292C>T (p.Pro98Ser)
n.615C>T
n.354C>T
c.34C>T (p.Pro12Ser)
c.*17C>T (n.*17C>T)
c.109C>T (p.Pro37Ser)
11g.61397837C>ACA380686111TMEM216c.293C>A (p.Pro98Gln)
n.616C>A
n.355C>A
c.35C>A (p.Pro12Gln)
c.*18C>A (n.*18C>A)
c.110C>A (p.Pro37Gln)
11g.61397837C>GCA380686109TMEM216c.293C>G (p.Pro98Arg)
n.616C>G
n.355C>G
c.35C>G (p.Pro12Arg)
c.*18C>G (n.*18C>G)
c.110C>G (p.Pro37Arg)
11g.61397837C>TCA380686106TMEM216c.293C>T (p.Pro98Leu)
n.616C>T
n.355C>T
c.35C>T (p.Pro12Leu)
c.*18C>T (n.*18C>T)
c.110C>T (p.Pro37Leu)
11g.61397838A=CA1977300154TMEM216c.294A= (p.Pro98=)
n.617A=
n.356A=
c.36A= (p.Pro12=)
c.*19A= (n.*19A=)
c.111A= (p.Pro37=)
11g.61397838A>CCA474519467TMEM216c.294A>C (p.Pro98=)
n.617A>C
n.356A>C
c.36A>C (p.Pro12=)
c.*19A>C (n.*19A>C)
c.111A>C (p.Pro37=)
11g.61397838A>GCA474519468TMEM216c.294A>G (p.Pro98=)
n.617A>G
n.356A>G
c.36A>G (p.Pro12=)
c.*19A>G (n.*19A>G)
c.111A>G (p.Pro37=)
11g.61397838A>TCA474519469TMEM216c.294A>T (p.Pro98=)
n.617A>T
n.356A>T
c.36A>T (p.Pro12=)
c.*19A>T (n.*19A>T)
c.111A>T (p.Pro37=)
 dbSNP gnomAD v2 gnomAD v4
11g.61397839T>ACA380686114TMEM216c.295T>A (p.Ser99Thr)
n.618T>A
n.357T>A
c.37T>A (p.Ser13Thr)
c.*20T>A (n.*20T>A)
c.112T>A (p.Ser38Thr)
11g.61397839T>CCA380686116TMEM216c.295T>C (p.Ser99Pro)
n.618T>C
n.357T>C
c.37T>C (p.Ser13Pro)
c.*20T>C (n.*20T>C)
c.112T>C (p.Ser38Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.61397839T>GCA380686118TMEM216c.295T>G (p.Ser99Ala)
n.618T>G
n.357T>G
c.37T>G (p.Ser13Ala)
c.*20T>G (n.*20T>G)
c.112T>G (p.Ser38Ala)
11g.61397839T=CA1977300156TMEM216c.295T= (p.Ser99=)
n.618T=
n.357T=
c.37T= (p.Ser13=)
c.*20T= (n.*20T=)
c.112T= (p.Ser38=)
11g.61397840C>ACA380686121TMEM216c.296C>A (p.Ser99Tyr)
n.619C>A
n.358C>A
c.38C>A (p.Ser13Tyr)
c.*21C>A (n.*21C>A)
c.113C>A (p.Ser38Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.61397840C=CA1977300159TMEM216c.296C= (p.Ser99=)
n.619C=
n.358C=
c.38C= (p.Ser13=)
c.*21C= (n.*21C=)
c.113C= (p.Ser38=)
11g.61397840C>GCA380686123TMEM216c.296C>G (p.Ser99Cys)
n.619C>G
n.358C>G
c.38C>G (p.Ser13Cys)
c.*21C>G (n.*21C>G)
c.113C>G (p.Ser38Cys)
11g.61397840C>TCA380686125TMEM216c.296C>T (p.Ser99Phe)
n.619C>T
n.358C>T
c.38C>T (p.Ser13Phe)
c.*21C>T (n.*21C>T)
c.113C>T (p.Ser38Phe)
11g.61397841T>ACA474519470TMEM216c.297T>A (p.Ser99=)
n.620T>A
n.359T>A
c.39T>A (p.Ser13=)
c.*22T>A (n.*22T>A)
c.114T>A (p.Ser38=)
11g.61397841T>CCA474519471TMEM216c.297T>C (p.Ser99=)
n.620T>C
n.359T>C
c.39T>C (p.Ser13=)
c.*22T>C (n.*22T>C)
c.114T>C (p.Ser38=)
11g.61397841T>GCA474519472TMEM216c.297T>G (p.Ser99=)
n.620T>G
n.359T>G
c.39T>G (p.Ser13=)
c.*22T>G (n.*22T>G)
c.114T>G (p.Ser38=)
11g.61397842G>ACA380686129TMEM216c.298G>A (p.Ala100Thr)
n.621G>A
n.360G>A
c.40G>A (p.Ala14Thr)
c.*23G>A (n.*23G>A)
c.115G>A (p.Ala39Thr)
11g.61397842G>CCA380686131TMEM216c.298G>C (p.Ala100Pro)
n.621G>C
n.360G>C
c.40G>C (p.Ala14Pro)
c.*23G>C (n.*23G>C)
c.115G>C (p.Ala39Pro)
11g.61397842G>TCA380686133TMEM216c.298G>T (p.Ala100Ser)
n.621G>T
n.360G>T
c.40G>T (p.Ala14Ser)
c.*23G>T (n.*23G>T)
c.115G>T (p.Ala39Ser)
11g.61397843C>ACA380686136TMEM216c.299C>A (p.Ala100Asp)
n.622C>A
n.361C>A
c.41C>A (p.Ala14Asp)
c.*24C>A (n.*24C>A)
c.116C>A (p.Ala39Asp)
11g.61397843C>GCA380686138TMEM216c.299C>G (p.Ala100Gly)
n.622C>G
n.361C>G
c.41C>G (p.Ala14Gly)
c.*24C>G (n.*24C>G)
c.116C>G (p.Ala39Gly)
11g.61397843C>TCA380686140TMEM216c.299C>T (p.Ala100Val)
n.622C>T
n.361C>T
c.41C>T (p.Ala14Val)
c.*24C>T (n.*24C>T)
c.116C>T (p.Ala39Val)
11g.61397844C>ACA474519473TMEM216c.300C>A (p.Ala100=)
n.623C>A
n.362C>A
c.42C>A (p.Ala14=)
c.*25C>A (n.*25C>A)
c.117C>A (p.Ala39=)
11g.61397844C>GCA474519474TMEM216c.300C>G (p.Ala100=)
n.623C>G
n.362C>G
c.42C>G (p.Ala14=)
c.*25C>G (n.*25C>G)
c.117C>G (p.Ala39=)
11g.61397844C>TCA474519475TMEM216c.300C>T (p.Ala100=)
n.623C>T
n.362C>T
c.42C>T (p.Ala14=)
c.*25C>T (n.*25C>T)
c.117C>T (p.Ala39=)
11g.61397845A>CCA380686147TMEM216c.301A>C (p.Met101Leu)
n.624A>C
n.363A>C
c.43A>C (p.Met15Leu)
c.*26A>C (n.*26A>C)
c.118A>C (p.Met40Leu)
 ClinVar
11g.61397845A>GCA380686143TMEM216c.301A>G (p.Met101Val)
n.624A>G
n.363A>G
c.43A>G (p.Met15Val)
c.*26A>G (n.*26A>G)
c.118A>G (p.Met40Val)
11g.61397845A>TCA380686145TMEM216c.301A>T (p.Met101Leu)
n.624A>T
n.363A>T
c.43A>T (p.Met15Leu)
c.*26A>T (n.*26A>T)
c.118A>T (p.Met40Leu)
 gnomAD v4
11g.61397846T>ACA380686151TMEM216c.302T>A (p.Met101Lys)
n.625T>A
n.364T>A
c.44T>A (p.Met15Lys)
c.*27T>A (n.*27T>A)
c.119T>A (p.Met40Lys)
11g.61397846T>CCA380686152TMEM216c.302T>C (p.Met101Thr)
n.625T>C
n.364T>C
c.44T>C (p.Met15Thr)
c.*27T>C (n.*27T>C)
c.119T>C (p.Met40Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.61397846T>GCA380686154TMEM216c.302T>G (p.Met101Arg)
n.625T>G
n.364T>G
c.44T>G (p.Met15Arg)
c.*27T>G (n.*27T>G)
c.119T>G (p.Met40Arg)
11g.61397846T=CA1977300161TMEM216c.302T= (p.Met101=)
n.625T=
n.364T=
c.44T= (p.Met15=)
c.*27T= (n.*27T=)
c.119T= (p.Met40=)
11g.61397846_61397847insCATTCA2695200227TMEM216c.302_303insCATT (p.Met101IlefsTer?)
n.625_626insCATT
n.364_365insCATT
c.44_45insCATT (p.Met15IlefsTer?)
c.*27_*28insCATT (n.*27_*28insCATT)
c.119_120insCATT (p.Met40IlefsTer?)
 ClinVar
11g.61397847G>ACA380686157TMEM216c.303G>A (p.Met101Ile)
n.626G>A
n.365G>A
c.45G>A (p.Met15Ile)
c.*28G>A (n.*28G>A)
c.120G>A (p.Met40Ile)
11g.61397847G>CCA380686160TMEM216c.303G>C (p.Met101Ile)
n.626G>C
n.365G>C
c.45G>C (p.Met15Ile)
c.*28G>C (n.*28G>C)
c.120G>C (p.Met40Ile)
11g.61397847G>TCA380686162TMEM216c.303G>T (p.Met101Ile)
n.626G>T
n.365G>T
c.45G>T (p.Met15Ile)
c.*28G>T (n.*28G>T)
c.120G>T (p.Met40Ile)
11g.61397848A>CCA380686163TMEM216c.304A>C (p.Met102Leu)
n.627A>C
n.366A>C
c.46A>C (p.Met16Leu)
c.*29A>C (n.*29A>C)
c.121A>C (p.Met41Leu)
11g.61397848A>GCA380686164TMEM216c.304A>G (p.Met102Val)
n.627A>G
n.366A>G
c.46A>G (p.Met16Val)
c.*29A>G (n.*29A>G)
c.121A>G (p.Met41Val)
11g.61397848A>TCA380686165TMEM216c.304A>T (p.Met102Leu)
n.627A>T
n.366A>T
c.46A>T (p.Met16Leu)
c.*29A>T (n.*29A>T)
c.121A>T (p.Met41Leu)
11g.61397849T>ACA380686166TMEM216c.305T>A (p.Met102Lys)
n.628T>A
n.367T>A
c.47T>A (p.Met16Lys)
c.*30T>A (n.*30T>A)
c.122T>A (p.Met41Lys)
11g.61397849T>CCA380686167TMEM216c.305T>C (p.Met102Thr)
n.628T>C
n.367T>C
c.47T>C (p.Met16Thr)
c.*30T>C (n.*30T>C)
c.122T>C (p.Met41Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.61397849T>GCA380686168TMEM216c.305T>G (p.Met102Arg)
n.628T>G
n.367T>G
c.47T>G (p.Met16Arg)
c.*30T>G (n.*30T>G)
c.122T>G (p.Met41Arg)
11g.61397849T=CA1977300165TMEM216c.305T= (p.Met102=)
n.628T=
n.367T=
c.47T= (p.Met16=)
c.*30T= (n.*30T=)
c.122T= (p.Met41=)
11g.61397850G>ACA380686170TMEM216c.306G>A (p.Met102Ile)
n.629G>A
n.368G>A
c.48G>A (p.Met16Ile)
c.*31G>A (n.*31G>A)
c.123G>A (p.Met41Ile)
11g.61397850G>CCA380686171TMEM216c.306G>C (p.Met102Ile)
n.629G>C
n.368G>C
c.48G>C (p.Met16Ile)
c.*31G>C (n.*31G>C)
c.123G>C (p.Met41Ile)
11g.61397850G>TCA380686169TMEM216c.306G>T (p.Met102Ile)
n.629G>T
n.368G>T
c.48G>T (p.Met16Ile)
c.*31G>T (n.*31G>T)
c.123G>T (p.Met41Ile)
11g.61397851G>ACA380686174TMEM216c.307G>A (p.Ala103Thr)
n.630G>A
n.369G>A
c.49G>A (p.Ala17Thr)
c.*32G>A (n.*32G>A)
c.124G>A (p.Ala42Thr)
 COSMIC
11g.61397851G>CCA380686172TMEM216c.307G>C (p.Ala103Pro)
n.630G>C
n.369G>C
c.49G>C (p.Ala17Pro)
c.*32G>C (n.*32G>C)
c.124G>C (p.Ala42Pro)
11g.61397851G>TCA380686173TMEM216c.307G>T (p.Ala103Ser)
n.630G>T
n.369G>T
c.49G>T (p.Ala17Ser)
c.*32G>T (n.*32G>T)
c.124G>T (p.Ala42Ser)
11g.61397852C>ACA380686175TMEM216c.308C>A (p.Ala103Asp)
n.631C>A
n.370C>A
c.50C>A (p.Ala17Asp)
c.*33C>A (n.*33C>A)
c.125C>A (p.Ala42Asp)
11g.61397852C>GCA380686176TMEM216c.308C>G (p.Ala103Gly)
n.631C>G
n.370C>G
c.50C>G (p.Ala17Gly)
c.*33C>G (n.*33C>G)
c.125C>G (p.Ala42Gly)
11g.61397852C>TCA380686177TMEM216c.308C>T (p.Ala103Val)
n.631C>T
n.370C>T
c.50C>T (p.Ala17Val)
c.*33C>T (n.*33C>T)
c.125C>T (p.Ala42Val)
11g.61397855_61397857delCA2613837425TMEM216c.311_313del (p.Ser104del)
n.634_636del
n.373_375del
c.53_55del (p.Ser18del)
c.*36_*38del (n.*36_*38del)
c.128_130del (p.Ser43del)
 gnomAD v4
11g.61397853C>ACA474519484TMEM216c.309C>A (p.Ala103=)
n.632C>A
n.371C>A
c.51C>A (p.Ala17=)
c.*34C>A (n.*34C>A)
c.126C>A (p.Ala42=)
11g.61397853C=CA1977300170TMEM216c.309C= (p.Ala103=)
n.632C=
n.371C=
c.51C= (p.Ala17=)
c.*34C= (n.*34C=)
c.126C= (p.Ala42=)
11g.61397853C>GCA474519485TMEM216c.309C>G (p.Ala103=)
n.632C>G
n.371C>G
c.51C>G (p.Ala17=)
c.*34C>G (n.*34C>G)
c.126C>G (p.Ala42=)
11g.61397853C>TCA6034743TMEM216c.309C>T (p.Ala103=)
n.632C>T
n.371C>T
c.51C>T (p.Ala17=)
c.*34C>T (n.*34C>T)
c.126C>T (p.Ala42=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397854T>ACA380686178TMEM216c.310T>A (p.Ser104Thr)
n.633T>A
n.372T>A
c.52T>A (p.Ser18Thr)
c.*35T>A (n.*35T>A)
c.127T>A (p.Ser43Thr)
11g.61397854T>CCA380686179TMEM216c.310T>C (p.Ser104Pro)
n.633T>C
n.372T>C
c.52T>C (p.Ser18Pro)
c.*35T>C (n.*35T>C)
c.127T>C (p.Ser43Pro)
11g.61397854T>GCA380686180TMEM216c.310T>G (p.Ser104Ala)
n.633T>G
n.372T>G
c.52T>G (p.Ser18Ala)
c.*35T>G (n.*35T>G)
c.127T>G (p.Ser43Ala)
11g.61397855C>ACA380686181TMEM216c.311C>A (p.Ser104Tyr)
n.634C>A
n.373C>A
c.53C>A (p.Ser18Tyr)
c.*36C>A (n.*36C>A)
c.128C>A (p.Ser43Tyr)
11g.61397855C>GCA380686182TMEM216c.311C>G (p.Ser104Cys)
n.634C>G
n.373C>G
c.53C>G (p.Ser18Cys)
c.*36C>G (n.*36C>G)
c.128C>G (p.Ser43Cys)
11g.61397855C>TCA380686183TMEM216c.311C>T (p.Ser104Phe)
n.634C>T
n.373C>T
c.53C>T (p.Ser18Phe)
c.*36C>T (n.*36C>T)
c.128C>T (p.Ser43Phe)
 gnomAD v4
11g.61397856C>ACA474519486TMEM216c.312C>A (p.Ser104=)
n.635C>A
n.374C>A
c.54C>A (p.Ser18=)
c.*37C>A (n.*37C>A)
c.129C>A (p.Ser43=)
11g.61397856C=CA1977300172TMEM216c.312C= (p.Ser104=)
n.635C=
n.374C=
c.54C= (p.Ser18=)
c.*37C= (n.*37C=)
c.129C= (p.Ser43=)
11g.61397856C>GCA474519487TMEM216c.312C>G (p.Ser104=)
n.635C>G
n.374C>G
c.54C>G (p.Ser18=)
c.*37C>G (n.*37C>G)
c.129C>G (p.Ser43=)
11g.61397856C>TCA6034744TMEM216c.312C>T (p.Ser104=)
n.635C>T
n.374C>T
c.54C>T (p.Ser18=)
c.*37C>T (n.*37C>T)
c.129C>T (p.Ser43=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.61397857T>ACA380686186TMEM216c.313T>A (p.Tyr105Asn)
n.636T>A
n.375T>A
c.55T>A (p.Tyr19Asn)
c.*38T>A (n.*38T>A)
c.130T>A (p.Tyr44Asn)
11g.61397857T>CCA380686184TMEM216c.313T>C (p.Tyr105His)
n.636T>C
n.375T>C
c.55T>C (p.Tyr19His)
c.*38T>C (n.*38T>C)
c.130T>C (p.Tyr44His)
 gnomAD v4
11g.61397857T>GCA380686185TMEM216c.313T>G (p.Tyr105Asp)
n.636T>G
n.375T>G
c.55T>G (p.Tyr19Asp)
c.*38T>G (n.*38T>G)
c.130T>G (p.Tyr44Asp)
11g.61397858A>CCA380686187TMEM216c.314A>C (p.Tyr105Ser)
n.637A>C
n.376A>C
c.56A>C (p.Tyr19Ser)
c.*39A>C (n.*39A>C)
c.131A>C (p.Tyr44Ser)
11g.61397858A>GCA380686188TMEM216c.314A>G (p.Tyr105Cys)
n.637A>G
n.376A>G
c.56A>G (p.Tyr19Cys)
c.*39A>G (n.*39A>G)
c.131A>G (p.Tyr44Cys)
 gnomAD v4
11g.61397858A>TCA380686189TMEM216c.314A>T (p.Tyr105Phe)
n.637A>T
n.376A>T
c.56A>T (p.Tyr19Phe)
c.*39A>T (n.*39A>T)
c.131A>T (p.Tyr44Phe)
11g.61397859T>ACA380686190TMEM216c.315T>A (p.Tyr105Ter)
n.638T>A
n.377T>A
c.57T>A (p.Tyr19Ter)
c.*40T>A (n.*40T>A)
c.132T>A (p.Tyr44Ter)
11g.61397859T>CCA474519489TMEM216c.315T>C (p.Tyr105=)
n.638T>C
n.377T>C
c.57T>C (p.Tyr19=)
c.*40T>C (n.*40T>C)
c.132T>C (p.Tyr44=)
 dbSNP gnomAD v3 gnomAD v4
11g.61397859T>GCA380686191TMEM216c.315T>G (p.Tyr105Ter)
n.638T>G
n.377T>G
c.57T>G (p.Tyr19Ter)
c.*40T>G (n.*40T>G)
c.132T>G (p.Tyr44Ter)
11g.61397859T=CA1977300175TMEM216c.315T= (p.Tyr105=)
n.638T=
n.377T=
c.57T= (p.Tyr19=)
c.*40T= (n.*40T=)
c.132T= (p.Tyr44=)
11g.61397860T>ACA380686192TMEM216c.316T>A (p.Tyr106Asn)
n.639T>A
n.378T>A
c.58T>A (p.Tyr20Asn)
c.*41T>A (n.*41T>A)
c.133T>A (p.Tyr45Asn)
11g.61397860T>CCA380686193TMEM216c.316T>C (p.Tyr106His)
n.639T>C
n.378T>C
c.58T>C (p.Tyr20His)
c.*41T>C (n.*41T>C)
c.133T>C (p.Tyr45His)
11g.61397860T>GCA380686194TMEM216c.316T>G (p.Tyr106Asp)
n.639T>G
n.378T>G
c.58T>G (p.Tyr20Asp)
c.*41T>G (n.*41T>G)
c.133T>G (p.Tyr45Asp)
11g.61397860T=CA1977300178TMEM216c.316T= (p.Tyr106=)
n.639T=
n.378T=
c.58T= (p.Tyr20=)
c.*41T= (n.*41T=)
c.133T= (p.Tyr45=)
11g.61397860_61397861insTACA658822740TMEM216c.316_317insTA (p.Tyr106LeufsTer16)
n.639_640insTA
n.378_379insTA
c.58_59insTA (p.Tyr20LeufsTer16)
c.*41_*42insTA (n.*41_*42insTA)
c.133_134insTA (p.Tyr45LeufsTer16)
 ClinVar dbSNP
11g.61397861A=CA1977300187TMEM216c.317A= (p.Tyr106=)
n.640A=
n.379A=
c.59A= (p.Tyr20=)
c.*42A= (n.*42A=)
c.134A= (p.Tyr45=)
11g.61397861A>CCA380686195TMEM216c.317A>C (p.Tyr106Ser)
n.640A>C
n.379A>C
c.59A>C (p.Tyr20Ser)
c.*42A>C (n.*42A>C)
c.134A>C (p.Tyr45Ser)
11g.61397861A>GCA6034745TMEM216c.317A>G (p.Tyr106Cys)
n.640A>G
n.379A>G
c.59A>G (p.Tyr20Cys)
c.*42A>G (n.*42A>G)
c.134A>G (p.Tyr45Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397861A>TCA380686196TMEM216c.317A>T (p.Tyr106Phe)
n.640A>T
n.379A>T
c.59A>T (p.Tyr20Phe)
c.*42A>T (n.*42A>T)
c.134A>T (p.Tyr45Phe)
11g.61397862C>ACA380686197TMEM216c.318C>A (p.Tyr106Ter)
n.641C>A
n.380C>A
c.60C>A (p.Tyr20Ter)
c.*43C>A (n.*43C>A)
c.135C>A (p.Tyr45Ter)
11g.61397862C=CA1977300190TMEM216c.318C= (p.Tyr106=)
n.641C=
n.380C=
c.60C= (p.Tyr20=)
c.*43C= (n.*43C=)
c.135C= (p.Tyr45=)
11g.61397862C>GCA380686198TMEM216c.318C>G (p.Tyr106Ter)
n.641C>G
n.380C>G
c.60C>G (p.Tyr20Ter)
c.*43C>G (n.*43C>G)
c.135C>G (p.Tyr45Ter)
11g.61397862C>TCA474519496TMEM216c.318C>T (p.Tyr106=)
n.641C>T
n.380C>T
c.60C>T (p.Tyr20=)
c.*43C>T (n.*43C>T)
c.135C>T (p.Tyr45=)
 dbSNP
11g.61397863C>ACA380686200TMEM216c.319C>A (p.Leu107Met)
n.642C>A
n.381C>A
c.61C>A (p.Leu21Met)
c.*44C>A (n.*44C>A)
c.136C>A (p.Leu46Met)
11g.61397863C>GCA380686203TMEM216c.319C>G (p.Leu107Val)
n.642C>G
n.381C>G
c.61C>G (p.Leu21Val)
c.*44C>G (n.*44C>G)
c.136C>G (p.Leu46Val)
11g.61397863C>TCA474519500TMEM216c.319C>T (p.Leu107=)
n.642C>T
n.381C>T
c.61C>T (p.Leu21=)
c.*44C>T (n.*44C>T)
c.136C>T (p.Leu46=)
11g.61397864T>ACA380686206TMEM216c.320T>A (p.Leu107Gln)
n.643T>A
n.382T>A
c.62T>A (p.Leu21Gln)
c.*45T>A (n.*45T>A)
c.137T>A (p.Leu46Gln)
11g.61397864T>CCA6034746TMEM216c.320T>C (p.Leu107Pro)
n.643T>C
n.382T>C
c.62T>C (p.Leu21Pro)
c.*45T>C (n.*45T>C)
c.137T>C (p.Leu46Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.61397864T>GCA380686209TMEM216c.320T>G (p.Leu107Arg)
n.643T>G
n.382T>G
c.62T>G (p.Leu21Arg)
c.*45T>G (n.*45T>G)
c.137T>G (p.Leu46Arg)
11g.61397864T=CA1977300194TMEM216c.320T= (p.Leu107=)
n.643T=
n.382T=
c.62T= (p.Leu21=)
c.*45T= (n.*45T=)
c.137T= (p.Leu46=)
11g.61397865G>ACA474519501TMEM216c.321G>A (p.Leu107=)
n.644G>A
n.383G>A
c.63G>A (p.Leu21=)
c.*46G>A (n.*46G>A)
c.138G>A (p.Leu46=)
11g.61397865G>CCA474519502TMEM216c.321G>C (p.Leu107=)
n.644G>C
n.383G>C
c.63G>C (p.Leu21=)
c.*46G>C (n.*46G>C)
c.138G>C (p.Leu46=)
11g.61397865G>TCA474519503TMEM216c.321G>T (p.Leu107=)
n.644G>T
n.383G>T
c.63G>T (p.Leu21=)
c.*46G>T (n.*46G>T)
c.138G>T (p.Leu46=)
11g.61397866C>ACA380686211TMEM216c.322C>A (p.Leu108Met)
n.645C>A
n.384C>A
c.64C>A (p.Leu22Met)
c.*47C>A (n.*47C>A)
c.139C>A (p.Leu47Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.61397866C=CA1977300200TMEM216c.322C= (p.Leu108=)
n.645C=
n.384C=
c.64C= (p.Leu22=)
c.*47C= (n.*47C=)
c.139C= (p.Leu47=)
11g.61397866C>GCA380686213TMEM216c.322C>G (p.Leu108Val)
n.645C>G
n.384C>G
c.64C>G (p.Leu22Val)
c.*47C>G (n.*47C>G)
c.139C>G (p.Leu47Val)
11g.61397866C>TCA474519505TMEM216c.322C>T (p.Leu108=)
n.645C>T
n.384C>T
c.64C>T (p.Leu22=)
c.*47C>T (n.*47C>T)
c.139C>T (p.Leu47=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.61397867T>ACA380686220TMEM216c.323T>A (p.Leu108Gln)
n.646T>A
n.385T>A
c.65T>A (p.Leu22Gln)
c.*48T>A (n.*48T>A)
c.140T>A (p.Leu47Gln)
11g.61397867T>CCA380686218TMEM216c.323T>C (p.Leu108Pro)
n.646T>C
n.385T>C
c.65T>C (p.Leu22Pro)
c.*48T>C (n.*48T>C)
c.140T>C (p.Leu47Pro)
11g.61397867T>GCA380686216TMEM216c.323T>G (p.Leu108Arg)
n.646T>G
n.385T>G
c.65T>G (p.Leu22Arg)
c.*48T>G (n.*48T>G)
c.140T>G (p.Leu47Arg)
11g.61397868G>ACA6034747TMEM216c.324G>A (p.Leu108=)
n.647G>A
n.386G>A
c.66G>A (p.Leu22=)
c.*49G>A (n.*49G>A)
c.141G>A (p.Leu47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.61397868G>CCA474519507TMEM216c.324G>C (p.Leu108=)
n.647G>C
n.386G>C
c.66G>C (p.Leu22=)
c.*49G>C (n.*49G>C)
c.141G>C (p.Leu47=)
11g.61397868G=CA1977300209TMEM216c.324G= (p.Leu108=)
n.647G=
n.386G=
c.66G= (p.Leu22=)
c.*49G= (n.*49G=)
c.141G= (p.Leu47=)
11g.61397868G>TCA474519508TMEM216c.324G>T (p.Leu108=)
n.647G>T
n.386G>T
c.66G>T (p.Leu22=)
c.*49G>T (n.*49G>T)
c.141G>T (p.Leu47=)
11g.61397869C>ACA380686225TMEM216c.325C>A (p.Leu109Met)
n.648C>A
n.387C>A
c.67C>A (p.Leu23Met)
c.*50C>A (n.*50C>A)
c.142C>A (p.Leu48Met)
11g.61397869C>GCA380686227TMEM216c.325C>G (p.Leu109Val)
n.648C>G
n.387C>G
c.67C>G (p.Leu23Val)
c.*50C>G (n.*50C>G)
c.142C>G (p.Leu48Val)
11g.61397869C>TCA474519511TMEM216c.325C>T (p.Leu109=)
n.648C>T
n.387C>T
c.67C>T (p.Leu23=)
c.*50C>T (n.*50C>T)
c.142C>T (p.Leu48=)
11g.61397870T>ACA380686229TMEM216c.326T>A (p.Leu109Gln)
n.649T>A
n.388T>A
c.68T>A (p.Leu23Gln)
c.*51T>A (n.*51T>A)
c.143T>A (p.Leu48Gln)
11g.61397870T>CCA380686231TMEM216c.326T>C (p.Leu109Pro)
n.649T>C
n.388T>C
c.68T>C (p.Leu23Pro)
c.*51T>C (n.*51T>C)
c.143T>C (p.Leu48Pro)
11g.61397870T>GCA380686233TMEM216c.326T>G (p.Leu109Arg)
n.649T>G
n.388T>G
c.68T>G (p.Leu23Arg)
c.*51T>G (n.*51T>G)
c.143T>G (p.Leu48Arg)
11g.61397870dupCA2580084802TMEM216c.326dup (p.Gln110AlafsTer26)
n.649dup
n.388dup
c.68dup (p.Gln24AlafsTer26)
c.*51dup (n.*51dup)
c.143dup (p.Gln49AlafsTer26)
 ClinVar
11g.61397871G>ACA474519513TMEM216c.327G>A (p.Leu109=)
n.650G>A
n.389G>A
c.69G>A (p.Leu23=)
c.*52G>A (n.*52G>A)
c.144G>A (p.Leu48=)
11g.61397871G>CCA474519514TMEM216c.327G>C (p.Leu109=)
n.650G>C
n.389G>C
c.69G>C (p.Leu23=)
c.*52G>C (n.*52G>C)
c.144G>C (p.Leu48=)
11g.61397871G>TCA474519515TMEM216c.327G>T (p.Leu109=)
n.650G>T
n.389G>T
c.69G>T (p.Leu23=)
c.*52G>T (n.*52G>T)
c.144G>T (p.Leu48=)
11g.61397872C>ACA380686238TMEM216c.328C>A (p.Gln110Lys)
n.651C>A
n.390C>A
c.70C>A (p.Gln24Lys)
c.*53C>A (n.*53C>A)
c.145C>A (p.Gln49Lys)
11g.61397872C=CA1977300216TMEM216c.328C= (p.Gln110=)
n.651C=
n.390C=
c.70C= (p.Gln24=)
c.*53C= (n.*53C=)
c.145C= (p.Gln49=)
11g.61397872C>GCA380686242TMEM216c.328C>G (p.Gln110Glu)
n.651C>G
n.390C>G
c.70C>G (p.Gln24Glu)
c.*53C>G (n.*53C>G)
c.145C>G (p.Gln49Glu)
11g.61397872C>TCA222898198TMEM216c.328C>T (p.Gln110Ter)
n.651C>T
n.390C>T
c.70C>T (p.Gln24Ter)
c.*53C>T (n.*53C>T)
c.145C>T (p.Gln49Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.61397873A>CCA380686244TMEM216c.329A>C (p.Gln110Pro)
n.652A>C
n.391A>C
c.71A>C (p.Gln24Pro)
c.*54A>C (n.*54A>C)
c.146A>C (p.Gln49Pro)
11g.61397873A>GCA380686246TMEM216c.329A>G (p.Gln110Arg)
n.652A>G
n.391A>G
c.71A>G (p.Gln24Arg)
c.*54A>G (n.*54A>G)
c.146A>G (p.Gln49Arg)
11g.61397873A>TCA380686248TMEM216c.329A>T (p.Gln110Leu)
n.652A>T
n.391A>T
c.71A>T (p.Gln24Leu)
c.*54A>T (n.*54A>T)
c.146A>T (p.Gln49Leu)
11g.61397874G>ACA474519517TMEM216c.330G>A (p.Gln110=)
n.653G>A
n.392G>A
c.72G>A (p.Gln24=)
c.*55G>A (n.*55G>A)
c.147G>A (p.Gln49=)
11g.61397874G>CCA380686251TMEM216c.330G>C (p.Gln110His)
n.653G>C
n.392G>C
c.72G>C (p.Gln24His)
c.*55G>C (n.*55G>C)
c.147G>C (p.Gln49His)
11g.61397874G>TCA380686253TMEM216c.330G>T (p.Gln110His)
n.653G>T
n.392G>T
c.72G>T (p.Gln24His)
c.*55G>T (n.*55G>T)
c.147G>T (p.Gln49His)

Number of alleles fetched