Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.190388331T>ACA355762539CLDN16c.2T>A (p.Met1Lys)
c.212T>A (p.Met71Lys)
n.306+13728T>A
3g.190388331T>CCA355762540CLDN16c.2T>C (p.Met1Thr)
c.212T>C (p.Met71Thr)
n.306+13728T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.190388331T>GCA117862CLDN16c.2T>G (p.Met1Arg)
c.212T>G (p.Met71Arg)
n.306+13728T>G
ClinVar dbSNP
3g.190388331T=CA1428775947CLDN16c.2T= (p.Met1=)
c.212T= (p.Met71=)
n.306+13728T=
3g.190388332G>ACA355762541CLDN16c.3G>A (p.Met1Ile)
c.213G>A (p.Met71Ile)
n.306+13729G>A
3g.190388332G>CCA355762542CLDN16c.3G>C (p.Met1Ile)
c.213G>C (p.Met71Ile)
n.306+13729G>C
3g.190388332G>TCA355762543CLDN16c.3G>T (p.Met1Ile)
c.213G>T (p.Met71Ile)
n.306+13729G>T
3g.190388332dupCA1428775951CLDN16c.3dup (p.Arg2GlufsTer26)
c.213dup (p.Arg72GlufsTer26)
n.306+13729dup
dbSNP
3g.190388333A=CA1428775953CLDN16c.4A= (p.Arg2=)
c.214A= (p.Arg72=)
n.306+13730A=
3g.190388333A>CCA437637292CLDN16c.4A>C (p.Arg2=)
c.214A>C (p.Arg72=)
n.306+13730A>C
3g.190388333A>GCA355762544CLDN16c.4A>G (p.Arg2Gly)
c.214A>G (p.Arg72Gly)
n.306+13730A>G
3g.190388333A>TCA2753724CLDN16c.4A>T (p.Arg2Trp)
c.214A>T (p.Arg72Trp)
n.306+13730A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.190388334G>ACA355762547CLDN16c.5G>A (p.Arg2Lys)
c.215G>A (p.Arg72Lys)
n.306+13731G>A
3g.190388334G>CCA355762545CLDN16c.5G>C (p.Arg2Thr)
c.215G>C (p.Arg72Thr)
n.306+13731G>C
3g.190388334G>TCA355762546CLDN16c.5G>T (p.Arg2Met)
c.215G>T (p.Arg72Met)
n.306+13731G>T
3g.190388335G>ACA437637296CLDN16c.6G>A (p.Arg2=)
c.216G>A (p.Arg72=)
n.306+13732G>A
3g.190388335G>CCA355762548CLDN16c.6G>C (p.Arg2Ser)
c.216G>C (p.Arg72Ser)
n.306+13732G>C
3g.190388335G>TCA355762549CLDN16c.6G>T (p.Arg2Ser)
c.216G>T (p.Arg72Ser)
n.306+13732G>T
gnomAD v4
3g.190388336G>ACA355762550CLDN16c.7G>A (p.Asp3Asn)
c.217G>A (p.Asp73Asn)
n.306+13733G>A
COSMIC
3g.190388336G>CCA355762551CLDN16c.7G>C (p.Asp3His)
c.217G>C (p.Asp73His)
n.306+13733G>C
3g.190388336G>TCA355762552CLDN16c.7G>T (p.Asp3Tyr)
c.217G>T (p.Asp73Tyr)
n.306+13733G>T
gnomAD v4
3g.190388337A>CCA355762553CLDN16c.8A>C (p.Asp3Ala)
c.218A>C (p.Asp73Ala)
n.306+13734A>C
3g.190388337A>GCA355762554CLDN16c.8A>G (p.Asp3Gly)
c.218A>G (p.Asp73Gly)
n.306+13734A>G
3g.190388337A>TCA355762555CLDN16c.8A>T (p.Asp3Val)
c.218A>T (p.Asp73Val)
n.306+13734A>T
3g.190388338T>ACA355762556CLDN16c.9T>A (p.Asp3Glu)
c.219T>A (p.Asp73Glu)
n.306+13735T>A
dbSNP gnomAD v2 gnomAD v4
3g.190388338T>CCA437637298CLDN16c.9T>C (p.Asp3=)
c.219T>C (p.Asp73=)
n.306+13735T>C
dbSNP gnomAD v4
3g.190388338T>GCA355762557CLDN16c.9T>G (p.Asp3Glu)
c.219T>G (p.Asp73Glu)
n.306+13735T>G
3g.190388338T=CA1428775957CLDN16c.9T= (p.Asp3=)
c.219T= (p.Asp73=)
n.306+13735T=
3g.190388343_190388345delCA2669054144CLDN16c.14_16del (p.Leu5del)
c.224_226del (p.Leu75del)
n.306+13740_306+13742del
gnomAD v4
3g.190388339C>ACA355762559CLDN16c.10C>A (p.Leu4Ile)
c.220C>A (p.Leu74Ile)
n.306+13736C>A
dbSNP gnomAD v2 gnomAD v4
3g.190388339C=CA1428775961CLDN16c.10C= (p.Leu4=)
c.220C= (p.Leu74=)
n.306+13736C=
3g.190388339C>GCA355762560CLDN16c.10C>G (p.Leu4Val)
c.220C>G (p.Leu74Val)
n.306+13736C>G
3g.190388339C>TCA355762558CLDN16c.10C>T (p.Leu4Phe)
c.220C>T (p.Leu74Phe)
n.306+13736C>T
3g.190388340T>ACA355762561CLDN16c.11T>A (p.Leu4His)
c.221T>A (p.Leu74His)
n.306+13737T>A
3g.190388340T>CCA355762562CLDN16c.11T>C (p.Leu4Pro)
c.221T>C (p.Leu74Pro)
n.306+13737T>C
3g.190388340T>GCA355762563CLDN16c.11T>G (p.Leu4Arg)
c.221T>G (p.Leu74Arg)
n.306+13737T>G
3g.190388341T>ACA437637300CLDN16c.12T>A (p.Leu4=)
c.222T>A (p.Leu74=)
n.306+13738T>A
3g.190388341T>CCA437637301CLDN16c.12T>C (p.Leu4=)
c.222T>C (p.Leu74=)
n.306+13738T>C
3g.190388341T>GCA437637302CLDN16c.12T>G (p.Leu4=)
c.222T>G (p.Leu74=)
n.306+13738T>G
3g.190388342C>ACA2753725CLDN16c.13C>A (p.Leu5Ile)
c.223C>A (p.Leu75Ile)
n.306+13739C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.190388342C=CA1428775964CLDN16c.13C= (p.Leu5=)
c.223C= (p.Leu75=)
n.306+13739C=
3g.190388342C>GCA355762564CLDN16c.13C>G (p.Leu5Val)
c.223C>G (p.Leu75Val)
n.306+13739C>G
3g.190388342C>TCA355762565CLDN16c.13C>T (p.Leu5Phe)
c.223C>T (p.Leu75Phe)
n.306+13739C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.190388343T>ACA355762566CLDN16c.14T>A (p.Leu5His)
c.224T>A (p.Leu75His)
n.306+13740T>A
3g.190388343T>CCA355762567CLDN16c.14T>C (p.Leu5Pro)
c.224T>C (p.Leu75Pro)
n.306+13740T>C
3g.190388343T>GCA355762568CLDN16c.14T>G (p.Leu5Arg)
c.224T>G (p.Leu75Arg)
n.306+13740T>G
3g.190388344T>ACA437637308CLDN16c.15T>A (p.Leu5=)
c.225T>A (p.Leu75=)
n.306+13741T>A
3g.190388344T>CCA437637310CLDN16c.15T>C (p.Leu5=)
c.225T>C (p.Leu75=)
n.306+13741T>C
dbSNP gnomAD v4
3g.190388344T>GCA437637307CLDN16c.15T>G (p.Leu5=)
c.225T>G (p.Leu75=)
n.306+13741T>G
3g.190388344T=CA1428775966CLDN16c.15T= (p.Leu5=)
c.225T= (p.Leu75=)
n.306+13741T=

Number of alleles fetched