Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6300740G>ACA438211479WFS1c.981G>A (p.Leu327=)
c.922G>A
c.945G>A (p.Leu315=)
c.696G>A (p.Leu232=)
c.661-57G>A (n.661-57G>A)
c.578G>A
n.1130G>A
n.503G>A
c.954G>A (p.Leu318=)
dbSNP gnomAD v2 gnomAD v4
4g.6300740G>CCA438211480WFS1c.981G>C (p.Leu327=)
c.922G>C
c.945G>C (p.Leu315=)
c.696G>C (p.Leu232=)
c.661-57G>C (n.661-57G>C)
c.578G>C
n.1130G>C
n.503G>C
c.954G>C (p.Leu318=)
gnomAD v4
4g.6300740G=CA1435772081WFS1c.981G= (p.Leu327=)
c.922G=
c.945G= (p.Leu315=)
c.696G= (p.Leu232=)
c.661-57G= (n.661-57G=)
c.578G=
n.1130G=
n.503G=
c.954G= (p.Leu318=)
4g.6300740G>TCA438211481WFS1c.981G>T (p.Leu327=)
c.922G>T
c.945G>T (p.Leu315=)
c.696G>T (p.Leu232=)
c.661-57G>T (n.661-57G>T)
c.578G>T
n.1130G>T
n.503G>T
c.954G>T (p.Leu318=)
4g.6300741T>ACA356173940WFS1c.982T>A (p.Ser328Thr)
c.923T>A
c.946T>A (p.Ser316Thr)
c.697T>A (p.Ser233Thr)
c.661-56T>A (n.661-56T>A)
c.579T>A
n.1131T>A
n.504T>A
c.955T>A (p.Ser319Thr)
4g.6300741T>CCA356173942WFS1c.982T>C (p.Ser328Pro)
c.923T>C
c.946T>C (p.Ser316Pro)
c.697T>C (p.Ser233Pro)
c.661-56T>C (n.661-56T>C)
c.579T>C
n.1131T>C
n.504T>C
c.955T>C (p.Ser319Pro)
4g.6300741T>GCA356173941WFS1c.982T>G (p.Ser328Ala)
c.923T>G
c.946T>G (p.Ser316Ala)
c.697T>G (p.Ser233Ala)
c.661-56T>G (n.661-56T>G)
c.579T>G
n.1131T>G
n.504T>G
c.955T>G (p.Ser319Ala)
dbSNP
4g.6300741T=CA1435772085WFS1c.982T= (p.Ser328=)
c.923T=
c.946T= (p.Ser316=)
c.697T= (p.Ser233=)
c.661-56T= (n.661-56T=)
c.579T=
n.1131T=
n.504T=
c.955T= (p.Ser319=)
4g.6300741_6300744delinsTCCACA1435772084WFS1c.982_985delinsTCCA (p.Ser328=)
c.923_926delinsTCCA
c.946_949delinsTCCA (p.Ser316=)
c.697_700delinsTCCA (p.Ser233=)
c.661-56_661-53delinsTCCA (n.661-56_661-53delinsTCCA)
c.579_582delinsTCCA
n.1131_1134delinsTCCA
n.504_507delinsTCCA
c.955_958delinsTCCA (p.Ser319=)
4g.6300742C>ACA356173943WFS1c.983C>A (p.Ser328Tyr)
c.924C>A
c.947C>A (p.Ser316Tyr)
c.698C>A (p.Ser233Tyr)
c.661-55C>A (n.661-55C>A)
c.580C>A
n.1132C>A
n.505C>A
c.956C>A (p.Ser319Tyr)
4g.6300742C=CA1435772088WFS1c.983C= (p.Ser328=)
c.924C=
c.947C= (p.Ser316=)
c.698C= (p.Ser233=)
c.661-55C= (n.661-55C=)
c.580C=
n.1132C=
n.505C=
c.956C= (p.Ser319=)
4g.6300742C>GCA91796213WFS1c.983C>G (p.Ser328Cys)
c.924C>G
c.947C>G (p.Ser316Cys)
c.698C>G (p.Ser233Cys)
c.661-55C>G (n.661-55C>G)
c.580C>G
n.1132C>G
n.505C>G
c.956C>G (p.Ser319Cys)
dbSNP
4g.6300742C>TCA91796212WFS1c.983C>T (p.Ser328Phe)
c.924C>T
c.947C>T (p.Ser316Phe)
c.698C>T (p.Ser233Phe)
c.661-55C>T (n.661-55C>T)
c.580C>T
n.1132C>T
n.505C>T
c.956C>T (p.Ser319Phe)
dbSNP
4g.6300745_6300747delCA2839163WFS1c.986_988del (p.Thr329del)
c.927_929del
c.950_952del (p.Thr317del)
c.701_703del (p.Thr234del)
c.661-52_661-50del (n.661-52_661-50del)
c.583_585del
n.1135_1137del
n.508_510del
c.959_961del (p.Thr320del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300743C>ACA438211482WFS1c.984C>A (p.Ser328=)
c.925C>A
c.948C>A (p.Ser316=)
c.699C>A (p.Ser233=)
c.661-54C>A (n.661-54C>A)
c.581C>A
n.1133C>A
n.506C>A
c.957C>A (p.Ser319=)
4g.6300743C=CA1435772090WFS1c.984C= (p.Ser328=)
c.925C=
c.948C= (p.Ser316=)
c.699C= (p.Ser233=)
c.661-54C= (n.661-54C=)
c.581C=
n.1133C=
n.506C=
c.957C= (p.Ser319=)
4g.6300743C>GCA438211483WFS1c.984C>G (p.Ser328=)
c.925C>G
c.948C>G (p.Ser316=)
c.699C>G (p.Ser233=)
c.661-54C>G (n.661-54C>G)
c.581C>G
n.1133C>G
n.506C>G
c.957C>G (p.Ser319=)
4g.6300743C>TCA2839164WFS1c.984C>T (p.Ser328=)
c.925C>T
c.948C>T (p.Ser316=)
c.699C>T (p.Ser233=)
c.661-54C>T (n.661-54C>T)
c.581C>T
n.1133C>T
n.506C>T
c.957C>T (p.Ser319=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300744A=CA1435772092WFS1c.985A= (p.Thr329=)
c.926A=
c.949A= (p.Thr317=)
c.700A= (p.Thr234=)
c.661-53A= (n.661-53A=)
c.582A=
n.1134A=
n.507A=
c.958A= (p.Thr320=)
4g.6300744A>CCA356173944WFS1c.985A>C (p.Thr329Pro)
c.926A>C
c.949A>C (p.Thr317Pro)
c.700A>C (p.Thr234Pro)
c.661-53A>C (n.661-53A>C)
c.582A>C
n.1134A>C
n.507A>C
c.958A>C (p.Thr320Pro)
dbSNP
4g.6300744A>GCA356173945WFS1c.985A>G (p.Thr329Ala)
c.926A>G
c.949A>G (p.Thr317Ala)
c.700A>G (p.Thr234Ala)
c.661-53A>G (n.661-53A>G)
c.582A>G
n.1134A>G
n.507A>G
c.958A>G (p.Thr320Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300744A>TCA356173946WFS1c.985A>T (p.Thr329Ser)
c.926A>T
c.949A>T (p.Thr317Ser)
c.700A>T (p.Thr234Ser)
c.661-53A>T (n.661-53A>T)
c.582A>T
n.1134A>T
n.507A>T
c.958A>T (p.Thr320Ser)
4g.6300745C>ACA356173947WFS1c.986C>A (p.Thr329Asn)
c.927C>A
c.950C>A (p.Thr317Asn)
c.701C>A (p.Thr234Asn)
c.661-52C>A (n.661-52C>A)
c.583C>A
n.1135C>A
n.508C>A
c.959C>A (p.Thr320Asn)
4g.6300745C=CA1435772094WFS1c.986C= (p.Thr329=)
c.927C=
c.950C= (p.Thr317=)
c.701C= (p.Thr234=)
c.661-52C= (n.661-52C=)
c.583C=
n.1135C=
n.508C=
c.959C= (p.Thr320=)
4g.6300745C>GCA2839165WFS1c.986C>G (p.Thr329Ser)
c.927C>G
c.950C>G (p.Thr317Ser)
c.701C>G (p.Thr234Ser)
c.661-52C>G (n.661-52C>G)
c.583C>G
n.1135C>G
n.508C>G
c.959C>G (p.Thr320Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300745C>TCA356173948WFS1c.986C>T (p.Thr329Ile)
c.927C>T
c.950C>T (p.Thr317Ile)
c.701C>T (p.Thr234Ile)
c.661-52C>T (n.661-52C>T)
c.583C>T
n.1135C>T
n.508C>T
c.959C>T (p.Thr320Ile)
dbSNP gnomAD v4
4g.6300745_6300748delinsCCATCA1435772095WFS1c.986_989delinsCCAT (p.Thr329=)
c.927_930delinsCCAT
c.950_953delinsCCAT (p.Thr317=)
c.701_704delinsCCAT (p.Thr234=)
c.661-52_661-49delinsCCAT (n.661-52_661-49delinsCCAT)
c.583_586delinsCCAT
n.1135_1138delinsCCAT
n.508_511delinsCCAT
c.959_962delinsCCAT (p.Thr320=)
4g.6300746C>ACA2839167WFS1c.987C>A (p.Thr329=)
c.928C>A
c.951C>A (p.Thr317=)
c.702C>A (p.Thr234=)
c.661-51C>A (n.661-51C>A)
c.584C>A
n.1136C>A
n.509C>A
c.960C>A (p.Thr320=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300746C=CA1435772097WFS1c.987C= (p.Thr329=)
c.928C=
c.951C= (p.Thr317=)
c.702C= (p.Thr234=)
c.661-51C= (n.661-51C=)
c.584C=
n.1136C=
n.509C=
c.960C= (p.Thr320=)
4g.6300746C>GCA438211484WFS1c.987C>G (p.Thr329=)
c.928C>G
c.951C>G (p.Thr317=)
c.702C>G (p.Thr234=)
c.661-51C>G (n.661-51C>G)
c.584C>G
n.1136C>G
n.509C>G
c.960C>G (p.Thr320=)
4g.6300746C>TCA2839166WFS1c.987C>T (p.Thr329=)
c.928C>T
c.951C>T (p.Thr317=)
c.702C>T (p.Thr234=)
c.661-51C>T (n.661-51C>T)
c.584C>T
n.1136C>T
n.509C>T
c.960C>T (p.Thr320=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300750_6300752delCA797206182WFS1c.991_993del (p.Ile331del)
c.932_934del
c.955_957del (p.Ile319del)
c.706_708del (p.Ile236del)
c.661-47_661-45del (n.661-47_661-45del)
c.588_590del
n.1140_1142del
n.513_515del
c.964_966del (p.Ile322del)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6300747A=CA1435772100WFS1c.988A= (p.Ile330=)
c.929A=
c.952A= (p.Ile318=)
c.703A= (p.Ile235=)
c.661-50A= (n.661-50A=)
c.585A=
n.1137A=
n.510A=
c.961A= (p.Ile321=)
4g.6300747A>CCA356173949WFS1c.988A>C (p.Ile330Leu)
c.929A>C
c.952A>C (p.Ile318Leu)
c.703A>C (p.Ile235Leu)
c.661-50A>C (n.661-50A>C)
c.585A>C
n.1137A>C
n.510A>C
c.961A>C (p.Ile321Leu)
4g.6300747A>GCA356173951WFS1c.988A>G (p.Ile330Val)
c.929A>G
c.952A>G (p.Ile318Val)
c.703A>G (p.Ile235Val)
c.661-50A>G (n.661-50A>G)
c.585A>G
n.1137A>G
n.510A>G
c.961A>G (p.Ile321Val)
dbSNP gnomAD v2 gnomAD v4
4g.6300747A>TCA356173950WFS1c.988A>T (p.Ile330Phe)
c.929A>T
c.952A>T (p.Ile318Phe)
c.703A>T (p.Ile235Phe)
c.661-50A>T (n.661-50A>T)
c.585A>T
n.1137A>T
n.510A>T
c.961A>T (p.Ile321Phe)
dbSNP gnomAD v3 gnomAD v4
4g.6300748T>ACA356173952WFS1c.989T>A (p.Ile330Asn)
c.930T>A
c.953T>A (p.Ile318Asn)
c.704T>A (p.Ile235Asn)
c.661-49T>A (n.661-49T>A)
c.586T>A
n.1138T>A
n.511T>A
c.962T>A (p.Ile321Asn)
4g.6300748T>CCA356173953WFS1c.989T>C (p.Ile330Thr)
c.930T>C
c.953T>C (p.Ile318Thr)
c.704T>C (p.Ile235Thr)
c.661-49T>C (n.661-49T>C)
c.586T>C
n.1138T>C
n.511T>C
c.962T>C (p.Ile321Thr)
4g.6300748T>GCA356173954WFS1c.989T>G (p.Ile330Ser)
c.930T>G
c.953T>G (p.Ile318Ser)
c.704T>G (p.Ile235Ser)
c.661-49T>G (n.661-49T>G)
c.586T>G
n.1138T>G
n.511T>G
c.962T>G (p.Ile321Ser)
4g.6300749C>ACA438211485WFS1c.990C>A (p.Ile330=)
c.931C>A
c.954C>A (p.Ile318=)
c.705C>A (p.Ile235=)
c.661-48C>A (n.661-48C>A)
c.587C>A
n.1139C>A
n.512C>A
c.963C>A (p.Ile321=)
4g.6300749C=CA1435772102WFS1c.990C= (p.Ile330=)
c.931C=
c.954C= (p.Ile318=)
c.705C= (p.Ile235=)
c.661-48C= (n.661-48C=)
c.587C=
n.1139C=
n.512C=
c.963C= (p.Ile321=)
4g.6300749C>GCA356173955WFS1c.990C>G (p.Ile330Met)
c.931C>G
c.954C>G (p.Ile318Met)
c.705C>G (p.Ile235Met)
c.661-48C>G (n.661-48C>G)
c.587C>G
n.1139C>G
n.512C>G
c.963C>G (p.Ile321Met)
4g.6300749C>TCA438211486WFS1c.990C>T (p.Ile330=)
c.931C>T
c.954C>T (p.Ile318=)
c.705C>T (p.Ile235=)
c.661-48C>T (n.661-48C>T)
c.587C>T
n.1139C>T
n.512C>T
c.963C>T (p.Ile321=)
dbSNP gnomAD v4
4g.6300750A=CA1435772105WFS1c.991A= (p.Ile331=)
c.932A=
c.955A= (p.Ile319=)
c.706A= (p.Ile236=)
c.661-47A= (n.661-47A=)
c.588A=
n.1140A=
n.513A=
c.964A= (p.Ile322=)
4g.6300750A>CCA356173956WFS1c.991A>C (p.Ile331Leu)
c.932A>C
c.955A>C (p.Ile319Leu)
c.706A>C (p.Ile236Leu)
c.661-47A>C (n.661-47A>C)
c.588A>C
n.1140A>C
n.513A>C
c.964A>C (p.Ile322Leu)
4g.6300750A>GCA356173957WFS1c.991A>G (p.Ile331Val)
c.932A>G
c.955A>G (p.Ile319Val)
c.706A>G (p.Ile236Val)
c.661-47A>G (n.661-47A>G)
c.588A>G
n.1140A>G
n.513A>G
c.964A>G (p.Ile322Val)
4g.6300750A>TCA91796214WFS1c.991A>T (p.Ile331Phe)
c.932A>T
c.955A>T (p.Ile319Phe)
c.706A>T (p.Ile236Phe)
c.661-47A>T (n.661-47A>T)
c.588A>T
n.1140A>T
n.513A>T
c.964A>T (p.Ile322Phe)
ClinVar dbSNP
4g.6300751T>ACA356173958WFS1c.992T>A (p.Ile331Asn)
c.933T>A
c.956T>A (p.Ile319Asn)
c.707T>A (p.Ile236Asn)
c.661-46T>A (n.661-46T>A)
c.589T>A
n.1141T>A
n.514T>A
c.965T>A (p.Ile322Asn)
4g.6300751T>CCA356173959WFS1c.992T>C (p.Ile331Thr)
c.933T>C
c.956T>C (p.Ile319Thr)
c.707T>C (p.Ile236Thr)
c.661-46T>C (n.661-46T>C)
c.589T>C
n.1141T>C
n.514T>C
c.965T>C (p.Ile322Thr)
4g.6300751T>GCA356173960WFS1c.992T>G (p.Ile331Ser)
c.933T>G
c.956T>G (p.Ile319Ser)
c.707T>G (p.Ile236Ser)
c.661-46T>G (n.661-46T>G)
c.589T>G
n.1141T>G
n.514T>G
c.965T>G (p.Ile322Ser)
4g.6300752C>ACA438211488WFS1c.993C>A (p.Ile331=)
c.934C>A
c.957C>A (p.Ile319=)
c.708C>A (p.Ile236=)
c.661-45C>A (n.661-45C>A)
c.590C>A
n.1142C>A
n.515C>A
c.966C>A (p.Ile322=)
4g.6300752C>GCA356173961WFS1c.993C>G (p.Ile331Met)
c.934C>G
c.957C>G (p.Ile319Met)
c.708C>G (p.Ile236Met)
c.661-45C>G (n.661-45C>G)
c.590C>G
n.1142C>G
n.515C>G
c.966C>G (p.Ile322Met)
4g.6300752C>TCA438211487WFS1c.993C>T (p.Ile331=)
c.934C>T
c.957C>T (p.Ile319=)
c.708C>T (p.Ile236=)
c.661-45C>T (n.661-45C>T)
c.590C>T
n.1142C>T
n.515C>T
c.966C>T (p.Ile322=)
gnomAD v4
4g.6300755delCA2739270014WFS1c.996del (p.Thr333ArgfsTer?)
c.937del
c.960del (p.Thr321ArgfsTer?)
c.711del (p.Thr238ArgfsTer?)
c.661-42del (n.661-42del)
c.593del
n.1145del
n.518del
c.969del (p.Thr324ArgfsTer?)
ClinVar
4g.6300753C>ACA356173964WFS1c.994C>A (p.Pro332Thr)
c.935C>A
c.958C>A (p.Pro320Thr)
c.709C>A (p.Pro237Thr)
c.661-44C>A (n.661-44C>A)
c.591C>A
n.1143C>A
n.516C>A
c.967C>A (p.Pro323Thr)
4g.6300753C=CA1435772108WFS1c.994C= (p.Pro332=)
c.935C=
c.958C= (p.Pro320=)
c.709C= (p.Pro237=)
c.661-44C= (n.661-44C=)
c.591C=
n.1143C=
n.516C=
c.967C= (p.Pro323=)
4g.6300753C>GCA356173962WFS1c.994C>G (p.Pro332Ala)
c.935C>G
c.958C>G (p.Pro320Ala)
c.709C>G (p.Pro237Ala)
c.661-44C>G (n.661-44C>G)
c.591C>G
n.1143C>G
n.516C>G
c.967C>G (p.Pro323Ala)
4g.6300753C>TCA356173963WFS1c.994C>T (p.Pro332Ser)
c.935C>T
c.958C>T (p.Pro320Ser)
c.709C>T (p.Pro237Ser)
c.661-44C>T (n.661-44C>T)
c.591C>T
n.1143C>T
n.516C>T
c.967C>T (p.Pro323Ser)
ClinVar dbSNP gnomAD v4
4g.6300753_6300756delinsTCCCA2586973601WFS1c.994_997delinsTCC (p.Pro332SerfsTer?)
c.935_938delinsTCC
c.958_961delinsTCC (p.Pro320SerfsTer?)
c.709_712delinsTCC (p.Pro237SerfsTer?)
c.661-44_661-41delinsTCC (n.661-44_661-41delinsTCC)
c.591_594delinsTCC
n.1143_1146delinsTCC
n.516_519delinsTCC
c.967_970delinsTCC (p.Pro323SerfsTer?)
ClinVar
4g.6300754C>ACA356173965WFS1c.995C>A (p.Pro332His)
c.936C>A
c.959C>A (p.Pro320His)
c.710C>A (p.Pro237His)
c.661-43C>A (n.661-43C>A)
c.592C>A
n.1144C>A
n.517C>A
c.968C>A (p.Pro323His)
4g.6300754C=CA1435772109WFS1c.995C= (p.Pro332=)
c.936C=
c.959C= (p.Pro320=)
c.710C= (p.Pro237=)
c.661-43C= (n.661-43C=)
c.592C=
n.1144C=
n.517C=
c.968C= (p.Pro323=)
4g.6300754C>GCA356173966WFS1c.995C>G (p.Pro332Arg)
c.936C>G
c.959C>G (p.Pro320Arg)
c.710C>G (p.Pro237Arg)
c.661-43C>G (n.661-43C>G)
c.592C>G
n.1144C>G
n.517C>G
c.968C>G (p.Pro323Arg)
dbSNP gnomAD v3 gnomAD v4
4g.6300754C>TCA356173967WFS1c.995C>T (p.Pro332Leu)
c.936C>T
c.959C>T (p.Pro320Leu)
c.710C>T (p.Pro237Leu)
c.661-43C>T (n.661-43C>T)
c.592C>T
n.1144C>T
n.517C>T
c.968C>T (p.Pro323Leu)
gnomAD v4
4g.6300755C>ACA438211489WFS1c.996C>A (p.Pro332=)
c.937C>A
c.960C>A (p.Pro320=)
c.711C>A (p.Pro237=)
c.661-42C>A (n.661-42C>A)
c.593C>A
n.1145C>A
n.518C>A
c.969C>A (p.Pro323=)
gnomAD v3 gnomAD v4
4g.6300755C=CA1435772111WFS1c.996C= (p.Pro332=)
c.937C=
c.960C= (p.Pro320=)
c.711C= (p.Pro237=)
c.661-42C= (n.661-42C=)
c.593C=
n.1145C=
n.518C=
c.969C= (p.Pro323=)
4g.6300755C>GCA438211490WFS1c.996C>G (p.Pro332=)
c.937C>G
c.960C>G (p.Pro320=)
c.711C>G (p.Pro237=)
c.661-42C>G (n.661-42C>G)
c.593C>G
n.1145C>G
n.518C>G
c.969C>G (p.Pro323=)
4g.6300755C>TCA2839168WFS1c.996C>T (p.Pro332=)
c.937C>T
c.960C>T (p.Pro320=)
c.711C>T (p.Pro237=)
c.661-42C>T (n.661-42C>T)
c.593C>T
n.1145C>T
n.518C>T
c.969C>T (p.Pro323=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300756delCA2669843410WFS1c.997del (p.Thr333ArgfsTer?)
c.938del
c.961del (p.Thr321ArgfsTer?)
c.712del (p.Thr238ArgfsTer?)
c.661-41del (n.661-41del)
c.594del
n.1146del
n.519del
c.970del (p.Thr324ArgfsTer?)
gnomAD v4
4g.6300756A=CA1435772112WFS1c.997A= (p.Thr333=)
c.938A=
c.961A= (p.Thr321=)
c.712A= (p.Thr238=)
c.661-41A= (n.661-41A=)
c.594A=
n.1146A=
n.519A=
c.970A= (p.Thr324=)
4g.6300756A>CCA356173968WFS1c.997A>C (p.Thr333Pro)
c.938A>C
c.961A>C (p.Thr321Pro)
c.712A>C (p.Thr238Pro)
c.661-41A>C (n.661-41A>C)
c.594A>C
n.1146A>C
n.519A>C
c.970A>C (p.Thr324Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300756A>GCA356173969WFS1c.997A>G (p.Thr333Ala)
c.938A>G
c.961A>G (p.Thr321Ala)
c.712A>G (p.Thr238Ala)
c.661-41A>G (n.661-41A>G)
c.594A>G
n.1146A>G
n.519A>G
c.970A>G (p.Thr324Ala)
gnomAD v4
4g.6300756A>TCA356173970WFS1c.997A>T (p.Thr333Ser)
c.938A>T
c.961A>T (p.Thr321Ser)
c.712A>T (p.Thr238Ser)
c.661-41A>T (n.661-41A>T)
c.594A>T
n.1146A>T
n.519A>T
c.970A>T (p.Thr324Ser)
4g.6300757C>ACA356173971WFS1c.998C>A (p.Thr333Lys)
c.939C>A
c.962C>A (p.Thr321Lys)
c.713C>A (p.Thr238Lys)
c.661-40C>A (n.661-40C>A)
c.595C>A
n.1147C>A
n.520C>A
c.971C>A (p.Thr324Lys)
4g.6300757C=CA1435772115WFS1c.998C= (p.Thr333=)
c.939C=
c.962C= (p.Thr321=)
c.713C= (p.Thr238=)
c.661-40C= (n.661-40C=)
c.595C=
n.1147C=
n.520C=
c.971C= (p.Thr324=)
4g.6300757C>GCA91796215WFS1c.998C>G (p.Thr333Arg)
c.939C>G
c.962C>G (p.Thr321Arg)
c.713C>G (p.Thr238Arg)
c.661-40C>G (n.661-40C>G)
c.595C>G
n.1147C>G
n.520C>G
c.971C>G (p.Thr324Arg)
ClinVar dbSNP gnomAD v2
4g.6300757C>TCA2839169WFS1c.998C>T (p.Thr333Met)
c.939C>T
c.962C>T (p.Thr321Met)
c.713C>T (p.Thr238Met)
c.661-40C>T (n.661-40C>T)
c.595C>T
n.1147C>T
n.520C>T
c.971C>T (p.Thr324Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300758G>ACA2839170WFS1c.999G>A (p.Thr333=)
c.940G>A
c.963G>A (p.Thr321=)
c.714G>A (p.Thr238=)
c.661-39G>A (n.661-39G>A)
c.596G>A
n.1148G>A
n.521G>A
c.972G>A (p.Thr324=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300758G>CCA438211492WFS1c.999G>C (p.Thr333=)
c.940G>C
c.963G>C (p.Thr321=)
c.714G>C (p.Thr238=)
c.661-39G>C (n.661-39G>C)
c.596G>C
n.1148G>C
n.521G>C
c.972G>C (p.Thr324=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300758G=CA1435772117WFS1c.999G= (p.Thr333=)
c.940G=
c.963G= (p.Thr321=)
c.714G= (p.Thr238=)
c.661-39G= (n.661-39G=)
c.596G=
n.1148G=
n.521G=
c.972G= (p.Thr324=)
4g.6300758G>TCA438211491WFS1c.999G>T (p.Thr333=)
c.940G>T
c.963G>T (p.Thr321=)
c.714G>T (p.Thr238=)
c.661-39G>T (n.661-39G>T)
c.596G>T
n.1148G>T
n.521G>T
c.972G>T (p.Thr324=)
4g.6300758_6300761delinsGCACCA1435772118WFS1c.999_1002delinsGCAC (p.Thr333=)
c.940_943delinsGCAC
c.963_966delinsGCAC (p.Thr321=)
c.714_717delinsGCAC (p.Thr238=)
c.661-39_661-36delinsGCAC (n.661-39_661-36delinsGCAC)
c.596_599delinsGCAC
n.1148_1151delinsGCAC
n.521_524delinsGCAC
c.972_975delinsGCAC (p.Thr324=)
4g.6300759C>ACA356173972WFS1c.1000C>A (p.His334Asn)
c.941C>A
c.964C>A (p.His322Asn)
c.715C>A (p.His239Asn)
c.661-38C>A (n.661-38C>A)
c.597C>A
n.1149C>A
n.522C>A
c.973C>A (p.His325Asn)
4g.6300759C=CA1435772120WFS1c.1000C= (p.His334=)
c.941C=
c.964C= (p.His322=)
c.715C= (p.His239=)
c.661-38C= (n.661-38C=)
c.597C=
n.1149C=
n.522C=
c.973C= (p.His325=)
4g.6300759C>GCA356173974WFS1c.1000C>G (p.His334Asp)
c.941C>G
c.964C>G (p.His322Asp)
c.715C>G (p.His239Asp)
c.661-38C>G (n.661-38C>G)
c.597C>G
n.1149C>G
n.522C>G
c.973C>G (p.His325Asp)
4g.6300759C>TCA356173973WFS1c.1000C>T (p.His334Tyr)
c.941C>T
c.964C>T (p.His322Tyr)
c.715C>T (p.His239Tyr)
c.661-38C>T (n.661-38C>T)
c.597C>T
n.1149C>T
n.522C>T
c.973C>T (p.His325Tyr)
dbSNP gnomAD v3 gnomAD v4
4g.6300762_6300764delCA2839171WFS1c.1003_1005del (p.His335del)
c.944_946del
c.967_969del (p.His323del)
c.718_720del (p.His240del)
c.661-35_661-33del (n.661-35_661-33del)
c.600_602del
n.1152_1154del
n.525_527del
c.976_978del (p.His326del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300760A=CA1435772122WFS1c.1001A= (p.His334=)
c.942A=
c.965A= (p.His322=)
c.716A= (p.His239=)
c.661-37A= (n.661-37A=)
c.598A=
n.1150A=
n.523A=
c.974A= (p.His325=)
4g.6300760A>CCA356173975WFS1c.1001A>C (p.His334Pro)
c.942A>C
c.965A>C (p.His322Pro)
c.716A>C (p.His239Pro)
c.661-37A>C (n.661-37A>C)
c.598A>C
n.1150A>C
n.523A>C
c.974A>C (p.His325Pro)
4g.6300760A>GCA356173976WFS1c.1001A>G (p.His334Arg)
c.942A>G
c.965A>G (p.His322Arg)
c.716A>G (p.His239Arg)
c.661-37A>G (n.661-37A>G)
c.598A>G
n.1150A>G
n.523A>G
c.974A>G (p.His325Arg)
dbSNP gnomAD v3 gnomAD v4
4g.6300760A>TCA356173977WFS1c.1001A>T (p.His334Leu)
c.942A>T
c.965A>T (p.His322Leu)
c.716A>T (p.His239Leu)
c.661-37A>T (n.661-37A>T)
c.598A>T
n.1150A>T
n.523A>T
c.974A>T (p.His325Leu)
4g.6300761C>ACA356173978WFS1c.1002C>A (p.His334Gln)
c.943C>A
c.966C>A (p.His322Gln)
c.717C>A (p.His239Gln)
c.661-36C>A (n.661-36C>A)
c.599C>A
n.1151C>A
n.524C>A
c.975C>A (p.His325Gln)
4g.6300761C=CA1435772126WFS1c.1002C= (p.His334=)
c.943C=
c.966C= (p.His322=)
c.717C= (p.His239=)
c.661-36C= (n.661-36C=)
c.599C=
n.1151C=
n.524C=
c.975C= (p.His325=)
4g.6300761C>GCA2839173WFS1c.1002C>G (p.His334Gln)
c.943C>G
c.966C>G (p.His322Gln)
c.717C>G (p.His239Gln)
c.661-36C>G (n.661-36C>G)
c.599C>G
n.1151C>G
n.524C>G
c.975C>G (p.His325Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300761C>TCA2839172WFS1c.1002C>T (p.His334=)
c.943C>T
c.966C>T (p.His322=)
c.717C>T (p.His239=)
c.661-36C>T (n.661-36C>T)
c.599C>T
n.1151C>T
n.524C>T
c.975C>T (p.His325=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300762C>ACA91796216WFS1c.1003C>A (p.His335Asn)
c.944C>A
c.967C>A (p.His323Asn)
c.718C>A (p.His240Asn)
c.661-35C>A (n.661-35C>A)
c.600C>A
n.1152C>A
n.525C>A
c.976C>A (p.His326Asn)
dbSNP gnomAD v4
4g.6300762C=CA1435772129WFS1c.1003C= (p.His335=)
c.944C=
c.967C= (p.His323=)
c.718C= (p.His240=)
c.661-35C= (n.661-35C=)
c.600C=
n.1152C=
n.525C=
c.976C= (p.His326=)
4g.6300762C>GCA356173979WFS1c.1003C>G (p.His335Asp)
c.944C>G
c.967C>G (p.His323Asp)
c.718C>G (p.His240Asp)
c.661-35C>G (n.661-35C>G)
c.600C>G
n.1152C>G
n.525C>G
c.976C>G (p.His326Asp)
4g.6300762C>TCA356173980WFS1c.1003C>T (p.His335Tyr)
c.944C>T
c.967C>T (p.His323Tyr)
c.718C>T (p.His240Tyr)
c.661-35C>T (n.661-35C>T)
c.600C>T
n.1152C>T
n.525C>T
c.976C>T (p.His326Tyr)
dbSNP gnomAD v2 gnomAD v4
4g.6300762_6300763delinsATCA2580071759WFS1c.1003_1004delinsAT (p.His335Ile)
c.944_945delinsAT
c.967_968delinsAT (p.His323Ile)
c.718_719delinsAT (p.His240Ile)
c.661-35_661-34delinsAT (n.661-35_661-34delinsAT)
c.600_601delinsAT
n.1152_1153delinsAT
n.525_526delinsAT
c.976_977delinsAT (p.His326Ile)
ClinVar
4g.6300763A=CA1435772131WFS1c.1004A= (p.His335=)
c.945A=
c.968A= (p.His323=)
c.719A= (p.His240=)
c.661-34A= (n.661-34A=)
c.601A=
n.1153A=
n.526A=
c.977A= (p.His326=)
4g.6300763A>CCA356173982WFS1c.1004A>C (p.His335Pro)
c.945A>C
c.968A>C (p.His323Pro)
c.719A>C (p.His240Pro)
c.661-34A>C (n.661-34A>C)
c.601A>C
n.1153A>C
n.526A>C
c.977A>C (p.His326Pro)
4g.6300763A>GCA356173981WFS1c.1004A>G (p.His335Arg)
c.945A>G
c.968A>G (p.His323Arg)
c.719A>G (p.His240Arg)
c.661-34A>G (n.661-34A>G)
c.601A>G
n.1153A>G
n.526A>G
c.977A>G (p.His326Arg)
ClinVar dbSNP
4g.6300763A>TCA91796217WFS1c.1004A>T (p.His335Leu)
c.945A>T
c.968A>T (p.His323Leu)
c.719A>T (p.His240Leu)
c.661-34A>T (n.661-34A>T)
c.601A>T
n.1153A>T
n.526A>T
c.977A>T (p.His326Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6300764C>ACA356173983WFS1c.1005C>A (p.His335Gln)
c.946C>A
c.969C>A (p.His323Gln)
c.720C>A (p.His240Gln)
c.661-33C>A (n.661-33C>A)
c.602C>A
n.1154C>A
n.527C>A
c.978C>A (p.His326Gln)
4g.6300764C=CA1435772134WFS1c.1005C= (p.His335=)
c.946C=
c.969C= (p.His323=)
c.720C= (p.His240=)
c.661-33C= (n.661-33C=)
c.602C=
n.1154C=
n.527C=
c.978C= (p.His326=)
4g.6300764C>GCA356173984WFS1c.1005C>G (p.His335Gln)
c.946C>G
c.969C>G (p.His323Gln)
c.720C>G (p.His240Gln)
c.661-33C>G (n.661-33C>G)
c.602C>G
n.1154C>G
n.527C>G
c.978C>G (p.His326Gln)
4g.6300764C>TCA2839174WFS1c.1005C>T (p.His335=)
c.946C>T
c.969C>T (p.His323=)
c.720C>T (p.His240=)
c.661-33C>T (n.661-33C>T)
c.602C>T
n.1154C>T
n.527C>T
c.978C>T (p.His326=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300768_6300779delCA2580610797WFS1c.1009_1020del (p.Asn337_Ile340del)
c.950_961del
c.973_984del (p.Asn325_Ile328del)
c.724_735del (p.Asn242_Ile245del)
c.661-29_661-18del (n.661-29_661-18del)
c.606_617del
n.1158_1169del
n.531_542del
c.982_993del (p.Asn328_Ile331del)
4g.6300765A=CA1435772136WFS1c.1006A= (p.Ile336=)
c.947A=
c.970A= (p.Ile324=)
c.721A= (p.Ile241=)
c.661-32A= (n.661-32A=)
c.603A=
n.1155A=
n.528A=
c.979A= (p.Ile327=)
4g.6300765A>CCA2839175WFS1c.1006A>C (p.Ile336Leu)
c.947A>C
c.970A>C (p.Ile324Leu)
c.721A>C (p.Ile241Leu)
c.661-32A>C (n.661-32A>C)
c.603A>C
n.1155A>C
n.528A>C
c.979A>C (p.Ile327Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300765A>GCA356173985WFS1c.1006A>G (p.Ile336Val)
c.947A>G
c.970A>G (p.Ile324Val)
c.721A>G (p.Ile241Val)
c.661-32A>G (n.661-32A>G)
c.603A>G
n.1155A>G
n.528A>G
c.979A>G (p.Ile327Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300765A>TCA356173986WFS1c.1006A>T (p.Ile336Phe)
c.947A>T
c.970A>T (p.Ile324Phe)
c.721A>T (p.Ile241Phe)
c.661-32A>T (n.661-32A>T)
c.603A>T
n.1155A>T
n.528A>T
c.979A>T (p.Ile327Phe)
dbSNP
4g.6300765_6300774delinsATCAACGCGCCA1435772137WFS1c.1006_1015delinsATCAACGCGC (p.Ile336=)
c.947_956delinsATCAACGCGC
c.970_979delinsATCAACGCGC (p.Ile324=)
c.721_730delinsATCAACGCGC (p.Ile241=)
c.661-32_661-23delinsATCAACGCGC (n.661-32_661-23delinsATCAACGCGC)
c.603_612delinsATCAACGCGC
n.1155_1164delinsATCAACGCGC
n.528_537delinsATCAACGCGC
c.979_988delinsATCAACGCGC (p.Ile327=)
4g.6300766T>ACA356173987WFS1c.1007T>A (p.Ile336Asn)
c.948T>A
c.971T>A (p.Ile324Asn)
c.722T>A (p.Ile241Asn)
c.661-31T>A (n.661-31T>A)
c.604T>A
n.1156T>A
n.529T>A
c.980T>A (p.Ile327Asn)
4g.6300766T>CCA356173988WFS1c.1007T>C (p.Ile336Thr)
c.948T>C
c.971T>C (p.Ile324Thr)
c.722T>C (p.Ile241Thr)
c.661-31T>C (n.661-31T>C)
c.604T>C
n.1156T>C
n.529T>C
c.980T>C (p.Ile327Thr)
4g.6300766T>GCA356173989WFS1c.1007T>G (p.Ile336Ser)
c.948T>G
c.971T>G (p.Ile324Ser)
c.722T>G (p.Ile241Ser)
c.661-31T>G (n.661-31T>G)
c.604T>G
n.1156T>G
n.529T>G
c.980T>G (p.Ile327Ser)
4g.6300769_6300777delCA1435772140WFS1c.1010_1018del (p.Asn337_Leu339del)
c.951_959del
c.974_982del (p.Asn325_Leu327del)
c.725_733del (p.Asn242_Leu244del)
c.661-28_661-20del (n.661-28_661-20del)
c.607_615del
n.1159_1167del
n.532_540del
c.983_991del (p.Asn328_Leu330del)
dbSNP
4g.6300767C>ACA438211494WFS1c.1008C>A (p.Ile336=)
c.949C>A
c.972C>A (p.Ile324=)
c.723C>A (p.Ile241=)
c.661-30C>A (n.661-30C>A)
c.605C>A
n.1157C>A
n.530C>A
c.981C>A (p.Ile327=)
4g.6300767C=CA1435772142WFS1c.1008C= (p.Ile336=)
c.949C=
c.972C= (p.Ile324=)
c.723C= (p.Ile241=)
c.661-30C= (n.661-30C=)
c.605C=
n.1157C=
n.530C=
c.981C= (p.Ile327=)
4g.6300767C>GCA356173990WFS1c.1008C>G (p.Ile336Met)
c.949C>G
c.972C>G (p.Ile324Met)
c.723C>G (p.Ile241Met)
c.661-30C>G (n.661-30C>G)
c.605C>G
n.1157C>G
n.530C>G
c.981C>G (p.Ile327Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6300767C>TCA438211493WFS1c.1008C>T (p.Ile336=)
c.949C>T
c.972C>T (p.Ile324=)
c.723C>T (p.Ile241=)
c.661-30C>T (n.661-30C>T)
c.605C>T
n.1157C>T
n.530C>T
c.981C>T (p.Ile327=)
4g.6300768A>CCA356173991WFS1c.1009A>C (p.Asn337His)
c.950A>C
c.973A>C (p.Asn325His)
c.724A>C (p.Asn242His)
c.661-29A>C (n.661-29A>C)
c.606A>C
n.1158A>C
n.531A>C
c.982A>C (p.Asn328His)
4g.6300768A>GCA356173992WFS1c.1009A>G (p.Asn337Asp)
c.950A>G
c.973A>G (p.Asn325Asp)
c.724A>G (p.Asn242Asp)
c.661-29A>G (n.661-29A>G)
c.606A>G
n.1158A>G
n.531A>G
c.982A>G (p.Asn328Asp)
ClinVar
4g.6300768A>TCA356173993WFS1c.1009A>T (p.Asn337Tyr)
c.950A>T
c.973A>T (p.Asn325Tyr)
c.724A>T (p.Asn242Tyr)
c.661-29A>T (n.661-29A>T)
c.606A>T
n.1158A>T
n.531A>T
c.982A>T (p.Asn328Tyr)
4g.6300769A=CA1435772143WFS1c.1010A= (p.Asn337=)
c.951A=
c.974A= (p.Asn325=)
c.725A= (p.Asn242=)
c.661-28A= (n.661-28A=)
c.607A=
n.1159A=
n.532A=
c.983A= (p.Asn328=)
4g.6300769A>CCA356173995WFS1c.1010A>C (p.Asn337Thr)
c.951A>C
c.974A>C (p.Asn325Thr)
c.725A>C (p.Asn242Thr)
c.661-28A>C (n.661-28A>C)
c.607A>C
n.1159A>C
n.532A>C
c.983A>C (p.Asn328Thr)
4g.6300769A>GCA2839176WFS1c.1010A>G (p.Asn337Ser)
c.951A>G
c.974A>G (p.Asn325Ser)
c.725A>G (p.Asn242Ser)
c.661-28A>G (n.661-28A>G)
c.607A>G
n.1159A>G
n.532A>G
c.983A>G (p.Asn328Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300769A>TCA356173994WFS1c.1010A>T (p.Asn337Ile)
c.951A>T
c.974A>T (p.Asn325Ile)
c.725A>T (p.Asn242Ile)
c.661-28A>T (n.661-28A>T)
c.607A>T
n.1159A>T
n.532A>T
c.983A>T (p.Asn328Ile)
4g.6300770C>ACA356173996WFS1c.1011C>A (p.Asn337Lys)
c.952C>A
c.975C>A (p.Asn325Lys)
c.726C>A (p.Asn242Lys)
c.661-27C>A (n.661-27C>A)
c.608C>A
n.1160C>A
n.533C>A
c.984C>A (p.Asn328Lys)
4g.6300770C=CA1435772145WFS1c.1011C= (p.Asn337=)
c.952C=
c.975C= (p.Asn325=)
c.726C= (p.Asn242=)
c.661-27C= (n.661-27C=)
c.608C=
n.1160C=
n.533C=
c.984C= (p.Asn328=)
4g.6300770C>GCA356173997WFS1c.1011C>G (p.Asn337Lys)
c.952C>G
c.975C>G (p.Asn325Lys)
c.726C>G (p.Asn242Lys)
c.661-27C>G (n.661-27C>G)
c.608C>G
n.1160C>G
n.533C>G
c.984C>G (p.Asn328Lys)
dbSNP gnomAD v2 gnomAD v4
4g.6300770C>TCA2839177WFS1c.1011C>T (p.Asn337=)
c.952C>T
c.975C>T (p.Asn325=)
c.726C>T (p.Asn242=)
c.661-27C>T (n.661-27C>T)
c.608C>T
n.1160C>T
n.533C>T
c.984C>T (p.Asn328=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6300771G>ACA321512WFS1c.1012G>A (p.Ala338Thr)
c.953G>A
c.976G>A (p.Ala326Thr)
c.727G>A (p.Ala243Thr)
c.661-26G>A (n.661-26G>A)
c.609G>A
n.1161G>A
n.534G>A
c.985G>A (p.Ala329Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300771G>CCA356173998WFS1c.1012G>C (p.Ala338Pro)
c.953G>C
c.976G>C (p.Ala326Pro)
c.727G>C (p.Ala243Pro)
c.661-26G>C (n.661-26G>C)
c.609G>C
n.1161G>C
n.534G>C
c.985G>C (p.Ala329Pro)
4g.6300771G=CA1435772148WFS1c.1012G= (p.Ala338=)
c.953G=
c.976G= (p.Ala326=)
c.727G= (p.Ala243=)
c.661-26G= (n.661-26G=)
c.609G=
n.1161G=
n.534G=
c.985G= (p.Ala329=)
4g.6300771G>TCA91796218WFS1c.1012G>T (p.Ala338Ser)
c.953G>T
c.976G>T (p.Ala326Ser)
c.727G>T (p.Ala243Ser)
c.661-26G>T (n.661-26G>T)
c.609G>T
n.1161G>T
n.534G>T
c.985G>T (p.Ala329Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300772C>ACA356173999WFS1c.1013C>A (p.Ala338Glu)
c.954C>A
c.977C>A (p.Ala326Glu)
c.728C>A (p.Ala243Glu)
c.661-25C>A (n.661-25C>A)
c.610C>A
n.1162C>A
n.535C>A
c.986C>A (p.Ala329Glu)
4g.6300772C=CA1435772150WFS1c.1013C= (p.Ala338=)
c.954C=
c.977C= (p.Ala326=)
c.728C= (p.Ala243=)
c.661-25C= (n.661-25C=)
c.610C=
n.1162C=
n.535C=
c.986C= (p.Ala329=)
4g.6300772C>GCA2839179WFS1c.1013C>G (p.Ala338Gly)
c.954C>G
c.977C>G (p.Ala326Gly)
c.728C>G (p.Ala243Gly)
c.661-25C>G (n.661-25C>G)
c.610C>G
n.1162C>G
n.535C>G
c.986C>G (p.Ala329Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300772C>TCA2839178WFS1c.1013C>T (p.Ala338Val)
c.954C>T
c.977C>T (p.Ala326Val)
c.728C>T (p.Ala243Val)
c.661-25C>T (n.661-25C>T)
c.610C>T
n.1162C>T
n.535C>T
c.986C>T (p.Ala329Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6300773G>ACA2839180WFS1c.1014G>A (p.Ala338=)
c.955G>A
c.978G>A (p.Ala326=)
c.729G>A (p.Ala243=)
c.661-24G>A (n.661-24G>A)
c.611G>A
n.1163G>A
n.536G>A
c.987G>A (p.Ala329=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300773G>CCA438211495WFS1c.1014G>C (p.Ala338=)
c.955G>C
c.978G>C (p.Ala326=)
c.729G>C (p.Ala243=)
c.661-24G>C (n.661-24G>C)
c.611G>C
n.1163G>C
n.536G>C
c.987G>C (p.Ala329=)
dbSNP gnomAD v3 gnomAD v4
4g.6300773G=CA1435772153WFS1c.1014G= (p.Ala338=)
c.955G=
c.978G= (p.Ala326=)
c.729G= (p.Ala243=)
c.661-24G= (n.661-24G=)
c.611G=
n.1163G=
n.536G=
c.987G= (p.Ala329=)
4g.6300773G>TCA438211496WFS1c.1014G>T (p.Ala338=)
c.955G>T
c.978G>T (p.Ala326=)
c.729G>T (p.Ala243=)
c.661-24G>T (n.661-24G>T)
c.611G>T
n.1163G>T
n.536G>T
c.987G>T (p.Ala329=)
gnomAD v4
4g.6300774C>ACA91796219WFS1c.1015C>A (p.Leu339Ile)
c.956C>A
c.979C>A (p.Leu327Ile)
c.730C>A (p.Leu244Ile)
c.661-23C>A (n.661-23C>A)
c.612C>A
n.1164C>A
n.537C>A
c.988C>A (p.Leu330Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300774C=CA1435772156WFS1c.1015C= (p.Leu339=)
c.956C=
c.979C= (p.Leu327=)
c.730C= (p.Leu244=)
c.661-23C= (n.661-23C=)
c.612C=
n.1164C=
n.537C=
c.988C= (p.Leu330=)
4g.6300774C>GCA356174000WFS1c.1015C>G (p.Leu339Val)
c.956C>G
c.979C>G (p.Leu327Val)
c.730C>G (p.Leu244Val)
c.661-23C>G (n.661-23C>G)
c.612C>G
n.1164C>G
n.537C>G
c.988C>G (p.Leu330Val)
gnomAD v4
4g.6300774C>TCA356174001WFS1c.1015C>T (p.Leu339Phe)
c.956C>T
c.979C>T (p.Leu327Phe)
c.730C>T (p.Leu244Phe)
c.661-23C>T (n.661-23C>T)
c.612C>T
n.1164C>T
n.537C>T
c.988C>T (p.Leu330Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300775T>ACA356174003WFS1c.1016T>A (p.Leu339His)
c.957T>A
c.980T>A (p.Leu327His)
c.731T>A (p.Leu244His)
c.661-22T>A (n.661-22T>A)
c.613T>A
n.1165T>A
n.538T>A
c.989T>A (p.Leu330His)
4g.6300775T>CCA356174004WFS1c.1016T>C (p.Leu339Pro)
c.957T>C
c.980T>C (p.Leu327Pro)
c.731T>C (p.Leu244Pro)
c.661-22T>C (n.661-22T>C)
c.613T>C
n.1165T>C
n.538T>C
c.989T>C (p.Leu330Pro)
dbSNP gnomAD v3 gnomAD v4
4g.6300775T>GCA356174002WFS1c.1016T>G (p.Leu339Arg)
c.957T>G
c.980T>G (p.Leu327Arg)
c.731T>G (p.Leu244Arg)
c.661-22T>G (n.661-22T>G)
c.613T>G
n.1165T>G
n.538T>G
c.989T>G (p.Leu330Arg)
4g.6300775T=CA1435772158WFS1c.1016T= (p.Leu339=)
c.957T=
c.980T= (p.Leu327=)
c.731T= (p.Leu244=)
c.661-22T= (n.661-22T=)
c.613T=
n.1165T=
n.538T=
c.989T= (p.Leu330=)
4g.6300775_6300805delinsTCATCTTCTTCTTCATCGTCAGCAACCTCACCA1435772159WFS1c.1016_1046delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu339=)
c.957_987delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC
c.980_1010delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu327=)
c.731_761delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu244=)
c.661-22_669delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC
c.613_643delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC
n.1165_1195delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC
n.538_568delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC
c.989_1019delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC (p.Leu330=)
4g.6300776C>ACA438211497WFS1c.1017C>A (p.Leu339=)
c.958C>A
c.981C>A (p.Leu327=)
c.732C>A (p.Leu244=)
c.661-21C>A (n.661-21C>A)
c.614C>A
n.1166C>A
n.539C>A
c.990C>A (p.Leu330=)
4g.6300776C=CA1435772161WFS1c.1017C= (p.Leu339=)
c.958C=
c.981C= (p.Leu327=)
c.732C= (p.Leu244=)
c.661-21C= (n.661-21C=)
c.614C=
n.1166C=
n.539C=
c.990C= (p.Leu330=)
4g.6300776C>GCA438211498WFS1c.1017C>G (p.Leu339=)
c.958C>G
c.981C>G (p.Leu327=)
c.732C>G (p.Leu244=)
c.661-21C>G (n.661-21C>G)
c.614C>G
n.1166C>G
n.539C>G
c.990C>G (p.Leu330=)
dbSNP gnomAD v3 gnomAD v4
4g.6300776C>TCA438211499WFS1c.1017C>T (p.Leu339=)
c.958C>T
c.981C>T (p.Leu327=)
c.732C>T (p.Leu244=)
c.661-21C>T (n.661-21C>T)
c.614C>T
n.1166C>T
n.539C>T
c.990C>T (p.Leu330=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300780_6300809delCA1058891029WFS1c.1021_1050del (p.Phe341_Ile350del)
c.962_991del
c.985_1014del (p.Phe329_Ile338del)
c.736_765del (p.Phe246_Ile255del)
c.661-17_673del
c.618_647del
n.1170_1199del
c.994_1023del (p.Phe332_Ile341del)
dbSNP gnomAD v3 gnomAD v4
4g.6300777A=CA1435772163WFS1c.1018A= (p.Ile340=)
c.959A=
c.982A= (p.Ile328=)
c.733A= (p.Ile245=)
c.661-20A= (n.661-20A=)
c.615A=
n.1167A=
n.540A=
c.991A= (p.Ile331=)
4g.6300777A>CCA356174005WFS1c.1018A>C (p.Ile340Leu)
c.959A>C
c.982A>C (p.Ile328Leu)
c.733A>C (p.Ile245Leu)
c.661-20A>C (n.661-20A>C)
c.615A>C
n.1167A>C
n.540A>C
c.991A>C (p.Ile331Leu)
4g.6300777A>GCA356174006WFS1c.1018A>G (p.Ile340Val)
c.959A>G
c.982A>G (p.Ile328Val)
c.733A>G (p.Ile245Val)
c.661-20A>G (n.661-20A>G)
c.615A>G
n.1167A>G
n.540A>G
c.991A>G (p.Ile331Val)
dbSNP gnomAD v2 gnomAD v4
4g.6300777A>TCA356174007WFS1c.1018A>T (p.Ile340Phe)
c.959A>T
c.982A>T (p.Ile328Phe)
c.733A>T (p.Ile245Phe)
c.661-20A>T (n.661-20A>T)
c.615A>T
n.1167A>T
n.540A>T
c.991A>T (p.Ile331Phe)
gnomAD v4
4g.6300778T>ACA356174008WFS1c.1019T>A (p.Ile340Asn)
c.960T>A
c.983T>A (p.Ile328Asn)
c.734T>A (p.Ile245Asn)
c.661-19T>A (n.661-19T>A)
c.616T>A
n.1168T>A
n.541T>A
c.992T>A (p.Ile331Asn)
4g.6300778T>CCA356174009WFS1c.1019T>C (p.Ile340Thr)
c.960T>C
c.983T>C (p.Ile328Thr)
c.734T>C (p.Ile245Thr)
c.661-19T>C (n.661-19T>C)
c.616T>C
n.1168T>C
n.541T>C
c.992T>C (p.Ile331Thr)
4g.6300778T>GCA356174010WFS1c.1019T>G (p.Ile340Ser)
c.960T>G
c.983T>G (p.Ile328Ser)
c.734T>G (p.Ile245Ser)
c.661-19T>G (n.661-19T>G)
c.616T>G
n.1168T>G
n.541T>G
c.992T>G (p.Ile331Ser)
4g.6300778_6300788delCA2669843412WFS1c.1019_1029del (p.Ile340AsnfsTer?)
c.960_970del
c.983_993del (p.Ile328AsnfsTer?)
c.734_744del (p.Ile245AsnfsTer?)
c.661-19_661-9del (n.661-19_661-9del)
c.616_626del
n.1168_1178del
n.541_551del
c.992_1002del (p.Ile331AsnfsTer?)
gnomAD v4
4g.6300786_6300788delCA2669843411WFS1c.1027_1029del (p.Phe343del)
c.968_970del
c.991_993del (p.Phe331del)
c.742_744del (p.Phe248del)
c.661-11_661-9del (n.661-11_661-9del)
c.624_626del
n.1176_1178del
n.549_551del
c.1000_1002del (p.Phe334del)
gnomAD v4
4g.6300779C>ACA438211500WFS1c.1020C>A (p.Ile340=)
c.961C>A
c.984C>A (p.Ile328=)
c.735C>A (p.Ile245=)
c.661-18C>A (n.661-18C>A)
c.617C>A
n.1169C>A
n.542C>A
c.993C>A (p.Ile331=)
4g.6300779C=CA1435772165WFS1c.1020C= (p.Ile340=)
c.961C=
c.984C= (p.Ile328=)
c.735C= (p.Ile245=)
c.661-18C= (n.661-18C=)
c.617C=
n.1169C=
n.542C=
c.993C= (p.Ile331=)
4g.6300779C>GCA356174011WFS1c.1020C>G (p.Ile340Met)
c.961C>G
c.984C>G (p.Ile328Met)
c.735C>G (p.Ile245Met)
c.661-18C>G (n.661-18C>G)
c.617C>G
n.1169C>G
n.542C>G
c.993C>G (p.Ile331Met)
4g.6300779C>TCA438211501WFS1c.1020C>T (p.Ile340=)
c.961C>T
c.984C>T (p.Ile328=)
c.735C>T (p.Ile245=)
c.661-18C>T (n.661-18C>T)
c.617C>T
n.1169C>T
n.542C>T
c.993C>T (p.Ile331=)
dbSNP gnomAD v4
4g.6300780T>ACA2839181WFS1c.1021T>A (p.Phe341Ile)
c.962T>A
c.985T>A (p.Phe329Ile)
c.736T>A (p.Phe246Ile)
c.661-17T>A (n.661-17T>A)
c.618T>A
n.1170T>A
n.543T>A
c.994T>A (p.Phe332Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300780T>CCA356174012WFS1c.1021T>C (p.Phe341Leu)
c.962T>C
c.985T>C (p.Phe329Leu)
c.736T>C (p.Phe246Leu)
c.661-17T>C (n.661-17T>C)
c.618T>C
n.1170T>C
n.543T>C
c.994T>C (p.Phe332Leu)
dbSNP gnomAD v2
4g.6300780T>GCA356174013WFS1c.1021T>G (p.Phe341Val)
c.962T>G
c.985T>G (p.Phe329Val)
c.736T>G (p.Phe246Val)
c.661-17T>G (n.661-17T>G)
c.618T>G
n.1170T>G
n.543T>G
c.994T>G (p.Phe332Val)
4g.6300780T=CA1435772167WFS1c.1021T= (p.Phe341=)
c.962T=
c.985T= (p.Phe329=)
c.736T= (p.Phe246=)
c.661-17T= (n.661-17T=)
c.618T=
n.1170T=
n.543T=
c.994T= (p.Phe332=)
4g.6300781T>ACA356174014WFS1c.1022T>A (p.Phe341Tyr)
c.963T>A
c.986T>A (p.Phe329Tyr)
c.737T>A (p.Phe246Tyr)
c.661-16T>A (n.661-16T>A)
c.619T>A
n.1171T>A
n.544T>A
c.995T>A (p.Phe332Tyr)
4g.6300781T>CCA356174015WFS1c.1022T>C (p.Phe341Ser)
c.963T>C
c.986T>C (p.Phe329Ser)
c.737T>C (p.Phe246Ser)
c.661-16T>C (n.661-16T>C)
c.619T>C
n.1171T>C
n.544T>C
c.995T>C (p.Phe332Ser)
4g.6300781T>GCA356174016WFS1c.1022T>G (p.Phe341Cys)
c.963T>G
c.986T>G (p.Phe329Cys)
c.737T>G (p.Phe246Cys)
c.661-16T>G (n.661-16T>G)
c.619T>G
n.1171T>G
n.544T>G
c.995T>G (p.Phe332Cys)
4g.6300782C>ACA356174017WFS1c.1023C>A (p.Phe341Leu)
c.964C>A
c.987C>A (p.Phe329Leu)
c.738C>A (p.Phe246Leu)
c.661-15C>A (n.661-15C>A)
c.620C>A
n.1172C>A
n.545C>A
c.996C>A (p.Phe332Leu)
4g.6300782C=CA1435772169WFS1c.1023C= (p.Phe341=)
c.964C=
c.987C= (p.Phe329=)
c.738C= (p.Phe246=)
c.661-15C= (n.661-15C=)
c.620C=
n.1172C=
n.545C=
c.996C= (p.Phe332=)
4g.6300782C>GCA356174018WFS1c.1023C>G (p.Phe341Leu)
c.964C>G
c.987C>G (p.Phe329Leu)
c.738C>G (p.Phe246Leu)
c.661-15C>G (n.661-15C>G)
c.620C>G
n.1172C>G
n.545C>G
c.996C>G (p.Phe332Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6300782C>TCA2839182WFS1c.1023C>T (p.Phe341=)
c.964C>T
c.987C>T (p.Phe329=)
c.738C>T (p.Phe246=)
c.661-15C>T (n.661-15C>T)
c.620C>T
n.1172C>T
n.545C>T
c.996C>T (p.Phe332=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300783T>ACA356174019WFS1c.1024T>A (p.Phe342Ile)
c.965T>A
c.988T>A (p.Phe330Ile)
c.739T>A (p.Phe247Ile)
c.661-14T>A (n.661-14T>A)
c.621T>A
n.1173T>A
n.546T>A
c.997T>A (p.Phe333Ile)
gnomAD v4
4g.6300783T>CCA356174020WFS1c.1024T>C (p.Phe342Leu)
c.965T>C
c.988T>C (p.Phe330Leu)
c.739T>C (p.Phe247Leu)
c.661-14T>C (n.661-14T>C)
c.621T>C
n.1173T>C
n.546T>C
c.997T>C (p.Phe333Leu)
4g.6300783T>GCA356174021WFS1c.1024T>G (p.Phe342Val)
c.965T>G
c.988T>G (p.Phe330Val)
c.739T>G (p.Phe247Val)
c.661-14T>G (n.661-14T>G)
c.621T>G
n.1173T>G
n.546T>G
c.997T>G (p.Phe333Val)
4g.6300784T>ACA356174022WFS1c.1025T>A (p.Phe342Tyr)
c.966T>A
c.989T>A (p.Phe330Tyr)
c.740T>A (p.Phe247Tyr)
c.661-13T>A (n.661-13T>A)
c.622T>A
n.1174T>A
n.547T>A
c.998T>A (p.Phe333Tyr)
4g.6300784T>CCA356174023WFS1c.1025T>C (p.Phe342Ser)
c.966T>C
c.989T>C (p.Phe330Ser)
c.740T>C (p.Phe247Ser)
c.661-13T>C (n.661-13T>C)
c.622T>C
n.1174T>C
n.547T>C
c.998T>C (p.Phe333Ser)
4g.6300784T>GCA356174024WFS1c.1025T>G (p.Phe342Cys)
c.966T>G
c.989T>G (p.Phe330Cys)
c.740T>G (p.Phe247Cys)
c.661-13T>G (n.661-13T>G)
c.622T>G
n.1174T>G
n.547T>G
c.998T>G (p.Phe333Cys)
4g.6300785C>ACA356174025WFS1c.1026C>A (p.Phe342Leu)
c.967C>A
c.990C>A (p.Phe330Leu)
c.741C>A (p.Phe247Leu)
c.661-12C>A (n.661-12C>A)
c.623C>A
n.1175C>A
n.548C>A
c.999C>A (p.Phe333Leu)
4g.6300785C=CA1435772171WFS1c.1026C= (p.Phe342=)
c.967C=
c.990C= (p.Phe330=)
c.741C= (p.Phe247=)
c.661-12C= (n.661-12C=)
c.623C=
n.1175C=
n.548C=
c.999C= (p.Phe333=)
4g.6300785C>GCA356174026WFS1c.1026C>G (p.Phe342Leu)
c.967C>G
c.990C>G (p.Phe330Leu)
c.741C>G (p.Phe247Leu)
c.661-12C>G (n.661-12C>G)
c.623C>G
n.1175C>G
n.548C>G
c.999C>G (p.Phe333Leu)
gnomAD v4
4g.6300785C>TCA438211502WFS1c.1026C>T (p.Phe342=)
c.967C>T
c.990C>T (p.Phe330=)
c.741C>T (p.Phe247=)
c.661-12C>T (n.661-12C>T)
c.623C>T
n.1175C>T
n.548C>T
c.999C>T (p.Phe333=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300786T>ACA2839183WFS1c.1027T>A (p.Phe343Ile)
c.968T>A
c.991T>A (p.Phe331Ile)
c.742T>A (p.Phe248Ile)
c.661-11T>A (n.661-11T>A)
c.624T>A
n.1176T>A
n.549T>A
c.1000T>A (p.Phe334Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300786T>CCA356174027WFS1c.1027T>C (p.Phe343Leu)
c.968T>C
c.991T>C (p.Phe331Leu)
c.742T>C (p.Phe248Leu)
c.661-11T>C (n.661-11T>C)
c.624T>C
n.1176T>C
n.549T>C
c.1000T>C (p.Phe334Leu)
4g.6300786T>GCA356174028WFS1c.1027T>G (p.Phe343Val)
c.968T>G
c.991T>G (p.Phe331Val)
c.742T>G (p.Phe248Val)
c.661-11T>G (n.661-11T>G)
c.624T>G
n.1176T>G
n.549T>G
c.1000T>G (p.Phe334Val)
4g.6300786T=CA1435772174WFS1c.1027T= (p.Phe343=)
c.968T=
c.991T= (p.Phe331=)
c.742T= (p.Phe248=)
c.661-11T= (n.661-11T=)
c.624T=
n.1176T=
n.549T=
c.1000T= (p.Phe334=)
4g.6300787T>ACA356174031WFS1c.1028T>A (p.Phe343Tyr)
c.969T>A
c.992T>A (p.Phe331Tyr)
c.743T>A (p.Phe248Tyr)
c.661-10T>A (n.661-10T>A)
c.625T>A
n.1177T>A
n.550T>A
c.1001T>A (p.Phe334Tyr)
4g.6300787T>CCA356174030WFS1c.1028T>C (p.Phe343Ser)
c.969T>C
c.992T>C (p.Phe331Ser)
c.743T>C (p.Phe248Ser)
c.661-10T>C (n.661-10T>C)
c.625T>C
n.1177T>C
n.550T>C
c.1001T>C (p.Phe334Ser)
4g.6300787T>GCA356174029WFS1c.1028T>G (p.Phe343Cys)
c.969T>G
c.992T>G (p.Phe331Cys)
c.743T>G (p.Phe248Cys)
c.661-10T>G (n.661-10T>G)
c.625T>G
n.1177T>G
n.550T>G
c.1001T>G (p.Phe334Cys)
4g.6300789_6300791dupCA2697557065WFS1c.1030_1032dup (p.Ile344_Val345insIle)
c.971_973dup
c.994_996dup (p.Ile332_Val333insIle)
c.745_747dup (p.Ile249_Val250insIle)
c.661-8_661-6dup (n.661-8_661-6dup)
c.627_629dup
n.1179_1181dup
n.552_554dup
c.1003_1005dup (p.Ile335_Val336insIle)
ClinVar
4g.6300788C>ACA356174033WFS1c.1029C>A (p.Phe343Leu)
c.970C>A
c.993C>A (p.Phe331Leu)
c.744C>A (p.Phe248Leu)
c.661-9C>A (n.661-9C>A)
c.626C>A
n.1178C>A
n.551C>A
c.1002C>A (p.Phe334Leu)
4g.6300788C=CA1435772176WFS1c.1029C= (p.Phe343=)
c.970C=
c.993C= (p.Phe331=)
c.744C= (p.Phe248=)
c.661-9C= (n.661-9C=)
c.626C=
n.1178C=
n.551C=
c.1002C= (p.Phe334=)
4g.6300788C>GCA356174032WFS1c.1029C>G (p.Phe343Leu)
c.970C>G
c.993C>G (p.Phe331Leu)
c.744C>G (p.Phe248Leu)
c.661-9C>G (n.661-9C>G)
c.626C>G
n.1178C>G
n.551C>G
c.1002C>G (p.Phe334Leu)
4g.6300788C>TCA2839184WFS1c.1029C>T (p.Phe343=)
c.970C>T
c.993C>T (p.Phe331=)
c.744C>T (p.Phe248=)
c.661-9C>T (n.661-9C>T)
c.626C>T
n.1178C>T
n.551C>T
c.1002C>T (p.Phe334=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300789A=CA1435772178WFS1c.1030A= (p.Ile344=)
c.971A=
c.994A= (p.Ile332=)
c.745A= (p.Ile249=)
c.661-8A= (n.661-8A=)
c.627A=
n.1179A=
n.552A=
c.1003A= (p.Ile335=)
4g.6300789A>CCA356174034WFS1c.1030A>C (p.Ile344Leu)
c.971A>C
c.994A>C (p.Ile332Leu)
c.745A>C (p.Ile249Leu)
c.661-8A>C (n.661-8A>C)
c.627A>C
n.1179A>C
n.552A>C
c.1003A>C (p.Ile335Leu)
4g.6300789A>GCA2839185WFS1c.1030A>G (p.Ile344Val)
c.971A>G
c.994A>G (p.Ile332Val)
c.745A>G (p.Ile249Val)
c.661-8A>G (n.661-8A>G)
c.627A>G
n.1179A>G
n.552A>G
c.1003A>G (p.Ile335Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300789A>TCA10606909WFS1c.1030A>T (p.Ile344Phe)
c.971A>T
c.994A>T (p.Ile332Phe)
c.745A>T (p.Ile249Phe)
c.661-8A>T (n.661-8A>T)
c.627A>T
n.1179A>T
n.552A>T
c.1003A>T (p.Ile335Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6300790T>ACA356174035WFS1c.1031T>A (p.Ile344Asn)
c.972T>A
c.995T>A (p.Ile332Asn)
c.746T>A (p.Ile249Asn)
c.661-7T>A (n.661-7T>A)
c.628T>A
n.1180T>A
n.553T>A
c.1004T>A (p.Ile335Asn)
4g.6300790T>CCA2839186WFS1c.1031T>C (p.Ile344Thr)
c.972T>C
c.995T>C (p.Ile332Thr)
c.746T>C (p.Ile249Thr)
c.661-7T>C (n.661-7T>C)
c.628T>C
n.1180T>C
n.553T>C
c.1004T>C (p.Ile335Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300790T>GCA356174036WFS1c.1031T>G (p.Ile344Ser)
c.972T>G
c.995T>G (p.Ile332Ser)
c.746T>G (p.Ile249Ser)
c.661-7T>G (n.661-7T>G)
c.628T>G
n.1180T>G
n.553T>G
c.1004T>G (p.Ile335Ser)
4g.6300790T=CA1435772180WFS1c.1031T= (p.Ile344=)
c.972T=
c.995T= (p.Ile332=)
c.746T= (p.Ile249=)
c.661-7T= (n.661-7T=)
c.628T=
n.1180T=
n.553T=
c.1004T= (p.Ile335=)
4g.6300792_6300794delCA2669843413WFS1c.1033_1035del (p.Val345del)
c.974_976del
c.997_999del (p.Val333del)
c.748_750del (p.Val250del)
c.661-5_661-3del (n.661-5_661-3del)
c.630_632del
n.1182_1184del
n.555_557del
c.1006_1008del (p.Val336del)
gnomAD v4
4g.6300791C>ACA2839187WFS1c.1032C>A (p.Ile344=)
c.973C>A
c.996C>A (p.Ile332=)
c.747C>A (p.Ile249=)
c.661-6C>A (n.661-6C>A)
c.629C>A
n.1181C>A
n.554C>A
c.1005C>A (p.Ile335=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300791C=CA1435772184WFS1c.1032C= (p.Ile344=)
c.973C=
c.996C= (p.Ile332=)
c.747C= (p.Ile249=)
c.661-6C= (n.661-6C=)
c.629C=
n.1181C=
n.554C=
c.1005C= (p.Ile335=)
4g.6300791C>GCA356174037WFS1c.1032C>G (p.Ile344Met)
c.973C>G
c.996C>G (p.Ile332Met)
c.747C>G (p.Ile249Met)
c.661-6C>G (n.661-6C>G)
c.629C>G
n.1181C>G
n.554C>G
c.1005C>G (p.Ile335Met)
gnomAD v4
4g.6300791C>TCA2839188WFS1c.1032C>T (p.Ile344=)
c.973C>T
c.996C>T (p.Ile332=)
c.747C>T (p.Ile249=)
c.661-6C>T (n.661-6C>T)
c.629C>T
n.1181C>T
n.554C>T
c.1005C>T (p.Ile335=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300791_6300792delinsAACA2499217321WFS1c.1032_1033delinsAA (p.Val345Ile)
c.973_974delinsAA
c.996_997delinsAA (p.Val333Ile)
c.747_748delinsAA (p.Val250Ile)
c.661-6_661-5delinsAA (n.661-6_661-5delinsAA)
c.629_630delinsAA
n.1181_1182delinsAA
n.554_555delinsAA
c.1005_1006delinsAA (p.Val336Ile)
ClinVar dbSNP
4g.6300792G>ACA136363WFS1c.1033G>A (p.Val345Ile)
c.974G>A
c.997G>A (p.Val333Ile)
c.748G>A (p.Val250Ile)
c.661-5G>A (n.661-5G>A)
c.630G>A
n.1182G>A
n.555G>A
c.1006G>A (p.Val336Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300792G>CCA356174038WFS1c.1033G>C (p.Val345Leu)
c.974G>C
c.997G>C (p.Val333Leu)
c.748G>C (p.Val250Leu)
c.661-5G>C (n.661-5G>C)
c.630G>C
n.1182G>C
n.555G>C
c.1006G>C (p.Val336Leu)
ClinVar dbSNP
4g.6300792G=CA1435772189WFS1c.1033G= (p.Val345=)
c.974G=
c.997G= (p.Val333=)
c.748G= (p.Val250=)
c.661-5G= (n.661-5G=)
c.630G=
n.1182G=
n.555G=
c.1006G= (p.Val336=)
4g.6300792G>TCA182614WFS1c.1033G>T (p.Val345Phe)
c.974G>T
c.997G>T (p.Val333Phe)
c.748G>T (p.Val250Phe)
c.661-5G>T (n.661-5G>T)
c.630G>T
n.1182G>T
n.555G>T
c.1006G>T (p.Val336Phe)
ClinVar dbSNP
4g.6300792_6300793delinsACCA2573138323WFS1c.1033_1034delinsAC (p.Val345Thr)
c.974_975delinsAC
c.997_998delinsAC (p.Val333Thr)
c.748_749delinsAC (p.Val250Thr)
c.661-5_661-4delinsAC (n.661-5_661-4delinsAC)
c.630_631delinsAC
n.1182_1183delinsAC
n.555_556delinsAC
c.1006_1007delinsAC (p.Val336Thr)
ClinVar
4g.6300793T>ACA356174040WFS1c.1034T>A (p.Val345Asp)
c.975T>A
c.998T>A (p.Val333Asp)
c.749T>A (p.Val250Asp)
c.661-4T>A (n.661-4T>A)
c.631T>A
n.1183T>A
n.556T>A
c.1007T>A (p.Val336Asp)
4g.6300793T>CCA356174041WFS1c.1034T>C (p.Val345Ala)
c.975T>C
c.998T>C (p.Val333Ala)
c.749T>C (p.Val250Ala)
c.661-4T>C (n.661-4T>C)
c.631T>C
n.1183T>C
n.556T>C
c.1007T>C (p.Val336Ala)
4g.6300793T>GCA356174039WFS1c.1034T>G (p.Val345Gly)
c.975T>G
c.998T>G (p.Val333Gly)
c.749T>G (p.Val250Gly)
c.661-4T>G (n.661-4T>G)
c.631T>G
n.1183T>G
n.556T>G
c.1007T>G (p.Val336Gly)
4g.6300794C>ACA438367849WFS1c.1035C>A (p.Val345=)
c.976C>A
c.999C>A (p.Val333=)
c.750C>A (p.Val250=)
c.661-3C>A (n.661-3C>A)
c.632C>A
n.1184C>A
n.557C>A
c.1008C>A (p.Val336=)
4g.6300794C=CA1435772190WFS1c.1035C= (p.Val345=)
c.976C=
c.999C= (p.Val333=)
c.750C= (p.Val250=)
c.661-3C= (n.661-3C=)
c.632C=
n.1184C=
n.557C=
c.1008C= (p.Val336=)
4g.6300794C>GCA438367848WFS1c.1035C>G (p.Val345=)
c.976C>G
c.999C>G (p.Val333=)
c.750C>G (p.Val250=)
c.661-3C>G (n.661-3C>G)
c.632C>G
n.1184C>G
n.557C>G
c.1008C>G (p.Val336=)
4g.6300794C>TCA438367850WFS1c.1035C>T (p.Val345=)
c.976C>T
c.999C>T (p.Val333=)
c.750C>T (p.Val250=)
c.661-3C>T (n.661-3C>T)
c.632C>T
n.1184C>T
n.557C>T
c.1008C>T (p.Val336=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300796_6300798dupCA2578035746WFS1c.1037_1039dup (p.Ser346_Asn347insSer)
c.978_980dup
c.1001_1003dup (p.Ser334_Asn335insSer)
c.752_754dup (p.Ser251_Asn252insSer)
c.661-1_662dup
c.634_636dup
n.1186_1188dup
n.559_561dup
c.1010_1012dup (p.Ser337_Asn338insSer)
4g.6300795A>CCA356174042WFS1c.1036A>C (p.Ser346Arg)
c.977A>C
c.1000A>C (p.Ser334Arg)
c.751A>C (p.Ser251Arg)
c.661-2A>C (n.661-2A>C)
c.633A>C
n.1185A>C
n.558A>C
c.1009A>C (p.Ser337Arg)
ClinVar dbSNP
4g.6300795A>GCA356174043WFS1c.1036A>G (p.Ser346Gly)
c.977A>G
c.1000A>G (p.Ser334Gly)
c.751A>G (p.Ser251Gly)
c.661-2A>G (n.661-2A>G)
c.633A>G
n.1185A>G
n.558A>G
c.1009A>G (p.Ser337Gly)
4g.6300795A>TCA356174044WFS1c.1036A>T (p.Ser346Cys)
c.977A>T
c.1000A>T (p.Ser334Cys)
c.751A>T (p.Ser251Cys)
c.661-2A>T (n.661-2A>T)
c.633A>T
n.1185A>T
n.558A>T
c.1009A>T (p.Ser337Cys)
4g.6300796G>ACA2839189WFS1c.1037G>A (p.Ser346Asn)
c.978G>A
c.1001G>A (p.Ser334Asn)
c.752G>A (p.Ser251Asn)
c.661-1G>A (n.661-1G>A)
c.634G>A
n.1186G>A
n.559G>A
c.1010G>A (p.Ser337Asn)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.6300796G>CCA356174045WFS1c.1037G>C (p.Ser346Thr)
c.978G>C
c.1001G>C (p.Ser334Thr)
c.752G>C (p.Ser251Thr)
c.661-1G>C (n.661-1G>C)
c.634G>C
n.1186G>C
n.559G>C
c.1010G>C (p.Ser337Thr)
4g.6300796G=CA1435772192WFS1c.1037G= (p.Ser346=)
c.978G=
c.1001G= (p.Ser334=)
c.752G= (p.Ser251=)
c.661-1G= (n.661-1G=)
c.634G=
n.1186G=
n.559G=
c.1010G= (p.Ser337=)
4g.6300796G>TCA356174046WFS1c.1037G>T (p.Ser346Ile)
c.978G>T
c.1001G>T (p.Ser334Ile)
c.752G>T (p.Ser251Ile)
c.661-1G>T (n.661-1G>T)
c.634G>T
n.1186G>T
n.559G>T
c.1010G>T (p.Ser337Ile)
4g.6300797C>ACA356174047WFS1c.1038C>A (p.Ser346Arg)
c.979C>A
c.1002C>A (p.Ser334Arg)
c.753C>A (p.Ser251Arg)
c.661C>A (p.Gln221Lys)
c.635C>A
n.1187C>A
n.560C>A
c.1011C>A (p.Ser337Arg)
4g.6300797C=CA1435772193WFS1c.1038C= (p.Ser346=)
c.979C=
c.1002C= (p.Ser334=)
c.753C= (p.Ser251=)
c.661C= (p.Gln221=)
c.635C=
n.1187C=
n.560C=
c.1011C= (p.Ser337=)
4g.6300797C>GCA356174048WFS1c.1038C>G (p.Ser346Arg)
c.979C>G
c.1002C>G (p.Ser334Arg)
c.753C>G (p.Ser251Arg)
c.661C>G (p.Gln221Glu)
c.635C>G
n.1187C>G
n.560C>G
c.1011C>G (p.Ser337Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6300797C>TCA438367857WFS1c.1038C>T (p.Ser346=)
c.979C>T
c.1002C>T (p.Ser334=)
c.753C>T (p.Ser251=)
c.661C>T (p.Gln221Ter)
c.635C>T
n.1187C>T
n.560C>T
c.1011C>T (p.Ser337=)
dbSNP gnomAD v4
4g.6300798A=CA1435772194WFS1c.1039A= (p.Asn347=)
c.980A=
c.1003A= (p.Asn335=)
c.754A= (p.Asn252=)
c.662A= (p.Gln221=)
c.636A=
n.1188A=
n.561A=
c.1012A= (p.Asn338=)
4g.6300798A>CCA356174049WFS1c.1039A>C (p.Asn347His)
c.980A>C
c.1003A>C (p.Asn335His)
c.754A>C (p.Asn252His)
c.662A>C (p.Gln221Pro)
c.636A>C
n.1188A>C
n.561A>C
c.1012A>C (p.Asn338His)
4g.6300798A>GCA356174050WFS1c.1039A>G (p.Asn347Asp)
c.980A>G
c.1003A>G (p.Asn335Asp)
c.754A>G (p.Asn252Asp)
c.662A>G (p.Gln221Arg)
c.636A>G
n.1188A>G
n.561A>G
c.1012A>G (p.Asn338Asp)
4g.6300798A>TCA356174051WFS1c.1039A>T (p.Asn347Tyr)
c.980A>T
c.1003A>T (p.Asn335Tyr)
c.754A>T (p.Asn252Tyr)
c.662A>T (p.Gln221Leu)
c.636A>T
n.1188A>T
n.561A>T
c.1012A>T (p.Asn338Tyr)
dbSNP
4g.6300799A>CCA356174052WFS1c.1040A>C (p.Asn347Thr)
c.981A>C
c.1004A>C (p.Asn335Thr)
c.755A>C (p.Asn252Thr)
c.663A>C (p.Gln221His)
c.637A>C
n.1189A>C
n.562A>C
c.1013A>C (p.Asn338Thr)
gnomAD v4
4g.6300799A>GCA356174053WFS1c.1040A>G (p.Asn347Ser)
c.981A>G
c.1004A>G (p.Asn335Ser)
c.755A>G (p.Asn252Ser)
c.663A>G (p.Gln221=)
c.637A>G
n.1189A>G
n.562A>G
c.1013A>G (p.Asn338Ser)
4g.6300799A>TCA356174054WFS1c.1040A>T (p.Asn347Ile)
c.981A>T
c.1004A>T (p.Asn335Ile)
c.755A>T (p.Asn252Ile)
c.663A>T (p.Gln221His)
c.637A>T
n.1189A>T
n.562A>T
c.1013A>T (p.Asn338Ile)
4g.6300800C>ACA356174055WFS1c.1041C>A (p.Asn347Lys)
c.982C>A
c.1005C>A (p.Asn335Lys)
c.756C>A (p.Asn252Lys)
c.664C>A (p.Pro222Thr)
c.638C>A
n.1190C>A
n.563C>A
c.1014C>A (p.Asn338Lys)
4g.6300800C=CA1435772196WFS1c.1041C= (p.Asn347=)
c.982C=
c.1005C= (p.Asn335=)
c.756C= (p.Asn252=)
c.664C= (p.Pro222=)
c.638C=
n.1190C=
n.563C=
c.1014C= (p.Asn338=)
4g.6300800C>GCA356174056WFS1c.1041C>G (p.Asn347Lys)
c.982C>G
c.1005C>G (p.Asn335Lys)
c.756C>G (p.Asn252Lys)
c.664C>G (p.Pro222Ala)
c.638C>G
n.1190C>G
n.563C>G
c.1014C>G (p.Asn338Lys)
4g.6300800C>TCA438367859WFS1c.1041C>T (p.Asn347=)
c.982C>T
c.1005C>T (p.Asn335=)
c.756C>T (p.Asn252=)
c.664C>T (p.Pro222Ser)
c.638C>T
n.1190C>T
n.563C>T
c.1014C>T (p.Asn338=)
dbSNP gnomAD v3 gnomAD v4
4g.6300801C>ACA356174057WFS1c.1042C>A (p.Leu348Ile)
c.983C>A
c.1006C>A (p.Leu336Ile)
c.757C>A (p.Leu253Ile)
c.665C>A (p.Pro222His)
c.639C>A
n.1191C>A
n.564C>A
c.1015C>A (p.Leu339Ile)
4g.6300801C=CA1435772197WFS1c.1042C= (p.Leu348=)
c.983C=
c.1006C= (p.Leu336=)
c.757C= (p.Leu253=)
c.665C= (p.Pro222=)
c.639C=
n.1191C=
n.564C=
c.1015C= (p.Leu339=)
4g.6300801C>GCA91796220WFS1c.1042C>G (p.Leu348Val)
c.983C>G
c.1006C>G (p.Leu336Val)
c.757C>G (p.Leu253Val)
c.665C>G (p.Pro222Arg)
c.639C>G
n.1191C>G
n.564C>G
c.1015C>G (p.Leu339Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300801C>TCA91796221WFS1c.1042C>T (p.Leu348Phe)
c.983C>T
c.1006C>T (p.Leu336Phe)
c.757C>T (p.Leu253Phe)
c.665C>T (p.Pro222Leu)
c.639C>T
n.1191C>T
n.564C>T
c.1015C>T (p.Leu339Phe)
dbSNP gnomAD v4
4g.6300803_6300813delCA2573052345WFS1c.1044_1054del (p.Thr349LeufsTer?)
c.985_995del
c.1008_1018del (p.Thr337LeufsTer?)
c.759_769del (p.Thr254LeufsTer?)
c.667_677del (p.His223SerfsTer19)
c.641_651del
n.1193_1203del
c.1017_1027del (p.Thr340LeufsTer?)
ClinVar dbSNP
4g.6300802T>ACA356174058WFS1c.1043T>A (p.Leu348His)
c.984T>A
c.1007T>A (p.Leu336His)
c.758T>A (p.Leu253His)
c.666T>A (p.Pro222=)
c.640T>A
n.1192T>A
n.565T>A
c.1016T>A (p.Leu339His)
4g.6300802T>CCA356174059WFS1c.1043T>C (p.Leu348Pro)
c.984T>C
c.1007T>C (p.Leu336Pro)
c.758T>C (p.Leu253Pro)
c.666T>C (p.Pro222=)
c.640T>C
n.1192T>C
n.565T>C
c.1016T>C (p.Leu339Pro)
4g.6300802T>GCA356174060WFS1c.1043T>G (p.Leu348Arg)
c.984T>G
c.1007T>G (p.Leu336Arg)
c.758T>G (p.Leu253Arg)
c.666T>G (p.Pro222=)
c.640T>G
n.1192T>G
n.565T>G
c.1016T>G (p.Leu339Arg)
4g.6300803C>ACA438367864WFS1c.1044C>A (p.Leu348=)
c.985C>A
c.1008C>A (p.Leu336=)
c.759C>A (p.Leu253=)
c.667C>A (p.His223Asn)
c.641C>A
n.1193C>A
n.566C>A
c.1017C>A (p.Leu339=)
dbSNP
4g.6300803C=CA1435772199WFS1c.1044C= (p.Leu348=)
c.985C=
c.1008C= (p.Leu336=)
c.759C= (p.Leu253=)
c.667C= (p.His223=)
c.641C=
n.1193C=
n.566C=
c.1017C= (p.Leu339=)
4g.6300803C>GCA2839190WFS1c.1044C>G (p.Leu348=)
c.985C>G
c.1008C>G (p.Leu336=)
c.759C>G (p.Leu253=)
c.667C>G (p.His223Asp)
c.641C>G
n.1193C>G
n.566C>G
c.1017C>G (p.Leu339=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300803C>TCA438367865WFS1c.1044C>T (p.Leu348=)
c.985C>T
c.1008C>T (p.Leu336=)
c.759C>T (p.Leu253=)
c.667C>T (p.His223Tyr)
c.641C>T
n.1193C>T
n.566C>T
c.1017C>T (p.Leu339=)
gnomAD v4
4g.6300804A>CCA356174061WFS1c.1045A>C (p.Thr349Pro)
c.986A>C
c.1009A>C (p.Thr337Pro)
c.760A>C (p.Thr254Pro)
c.668A>C (p.His223Pro)
c.642A>C
n.1194A>C
n.567A>C
c.1018A>C (p.Thr340Pro)
4g.6300804A>GCA356174062WFS1c.1045A>G (p.Thr349Ala)
c.986A>G
c.1009A>G (p.Thr337Ala)
c.760A>G (p.Thr254Ala)
c.668A>G (p.His223Arg)
c.642A>G
n.1194A>G
n.567A>G
c.1018A>G (p.Thr340Ala)
ClinVar
4g.6300804A>TCA356174063WFS1c.1045A>T (p.Thr349Ser)
c.986A>T
c.1009A>T (p.Thr337Ser)
c.760A>T (p.Thr254Ser)
c.668A>T (p.His223Leu)
c.642A>T
n.1194A>T
n.567A>T
c.1018A>T (p.Thr340Ser)
4g.6300805C>ACA356174064WFS1c.1046C>A (p.Thr349Asn)
c.987C>A
c.1010C>A (p.Thr337Asn)
c.761C>A (p.Thr254Asn)
c.669C>A (p.His223Gln)
c.643C>A
n.1195C>A
n.568C>A
c.1019C>A (p.Thr340Asn)
4g.6300805C>GCA356174065WFS1c.1046C>G (p.Thr349Ser)
c.987C>G
c.1010C>G (p.Thr337Ser)
c.761C>G (p.Thr254Ser)
c.669C>G (p.His223Gln)
c.643C>G
n.1195C>G
n.568C>G
c.1019C>G (p.Thr340Ser)
4g.6300805C>TCA356174066WFS1c.1046C>T (p.Thr349Ile)
c.987C>T
c.1010C>T (p.Thr337Ile)
c.761C>T (p.Thr254Ile)
c.669C>T (p.His223=)
c.643C>T
n.1195C>T
n.568C>T
c.1019C>T (p.Thr340Ile)
ClinVar
4g.6300806C>ACA438367870WFS1c.1047C>A (p.Thr349=)
c.988C>A
c.1011C>A (p.Thr337=)
c.762C>A (p.Thr254=)
c.670C>A (p.His224Asn)
c.644C>A
n.1196C>A
n.569C>A
c.1020C>A (p.Thr340=)
4g.6300806C=CA1435772200WFS1c.1047C= (p.Thr349=)
c.988C=
c.1011C= (p.Thr337=)
c.762C= (p.Thr254=)
c.670C= (p.His224=)
c.644C=
n.1196C=
n.569C=
c.1020C= (p.Thr340=)
4g.6300806C>GCA438367871WFS1c.1047C>G (p.Thr349=)
c.988C>G
c.1011C>G (p.Thr337=)
c.762C>G (p.Thr254=)
c.670C>G (p.His224Asp)
c.644C>G
n.1196C>G
n.569C>G
c.1020C>G (p.Thr340=)
4g.6300806C>TCA438367872WFS1c.1047C>T (p.Thr349=)
c.988C>T
c.1011C>T (p.Thr337=)
c.762C>T (p.Thr254=)
c.670C>T (p.His224Tyr)
c.644C>T
n.1196C>T
n.569C>T
c.1020C>T (p.Thr340=)
dbSNP gnomAD v2 gnomAD v4
4g.6300807A=CA1435772202WFS1c.1048A= (p.Ile350=)
c.989A=
c.1012A= (p.Ile338=)
c.763A= (p.Ile255=)
c.671A= (p.His224=)
c.645A=
n.1197A=
n.570A=
c.1021A= (p.Ile341=)
4g.6300807A>CCA356174068WFS1c.1048A>C (p.Ile350Leu)
c.989A>C
c.1012A>C (p.Ile338Leu)
c.763A>C (p.Ile255Leu)
c.671A>C (p.His224Pro)
c.645A>C
n.1197A>C
n.570A>C
c.1021A>C (p.Ile341Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6300807A>GCA2839191WFS1c.1048A>G (p.Ile350Val)
c.989A>G
c.1012A>G (p.Ile338Val)
c.763A>G (p.Ile255Val)
c.671A>G (p.His224Arg)
c.645A>G
n.1197A>G
n.570A>G
c.1021A>G (p.Ile341Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300807A>TCA356174067WFS1c.1048A>T (p.Ile350Phe)
c.989A>T
c.1012A>T (p.Ile338Phe)
c.763A>T (p.Ile255Phe)
c.671A>T (p.His224Leu)
c.645A>T
n.1197A>T
n.570A>T
c.1021A>T (p.Ile341Phe)
4g.6300808T>ACA356174069WFS1c.1049T>A (p.Ile350Asn)
c.990T>A
c.1013T>A (p.Ile338Asn)
c.764T>A (p.Ile255Asn)
c.672T>A (p.His224Gln)
c.646T>A
n.1198T>A
c.1022T>A (p.Ile341Asn)
4g.6300808T>CCA356174070WFS1c.1049T>C (p.Ile350Thr)
c.990T>C
c.1013T>C (p.Ile338Thr)
c.764T>C (p.Ile255Thr)
c.672T>C (p.His224=)
c.646T>C
n.1198T>C
c.1022T>C (p.Ile341Thr)
4g.6300808T>GCA356174071WFS1c.1049T>G (p.Ile350Ser)
c.990T>G
c.1013T>G (p.Ile338Ser)
c.764T>G (p.Ile255Ser)
c.672T>G (p.His224Gln)
c.646T>G
n.1198T>G
c.1022T>G (p.Ile341Ser)
4g.6300808_6300809delinsATCA2573138324WFS1c.1049_1050delinsAT (p.Ile350Asn)
c.990_991delinsAT
c.1013_1014delinsAT (p.Ile338Asn)
c.764_765delinsAT (p.Ile255Asn)
c.672_673delinsAT (p.His224GlnfsTer2)
c.646_647delinsAT
n.1198_1199delinsAT
c.1022_1023delinsAT (p.Ile341Asn)
ClinVar dbSNP
4g.6300809C>ACA438367874WFS1c.1050C>A (p.Ile350=)
c.991C>A
c.1014C>A (p.Ile338=)
c.765C>A (p.Ile255=)
c.673C>A (p.Arg225=)
c.647C>A
n.1199C>A
c.1023C>A (p.Ile341=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300809C=CA1435772204WFS1c.1050C= (p.Ile350=)
c.991C=
c.1014C= (p.Ile338=)
c.765C= (p.Ile255=)
c.673C= (p.Arg225=)
c.647C=
n.1199C=
c.1023C= (p.Ile341=)
4g.6300809C>GCA2839192WFS1c.1050C>G (p.Ile350Met)
c.991C>G
c.1014C>G (p.Ile338Met)
c.765C>G (p.Ile255Met)
c.673C>G (p.Arg225Gly)
c.647C>G
n.1199C>G
c.1023C>G (p.Ile341Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300809C>TCA438367875WFS1c.1050C>T (p.Ile350=)
c.991C>T
c.1014C>T (p.Ile338=)
c.765C>T (p.Ile255=)
c.673C>T (p.Arg225Ter)
c.647C>T
n.1199C>T
c.1023C>T (p.Ile341=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300810G>ACA323935WFS1c.1051G>A (p.Asp351Asn)
c.992G>A
c.1015G>A (p.Asp339Asn)
c.766G>A (p.Asp256Asn)
c.674G>A (p.Arg225Gln)
c.648G>A
n.1200G>A
c.1024G>A (p.Asp342Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6300810G>CCA356174073WFS1c.1051G>C (p.Asp351His)
c.992G>C
c.1015G>C (p.Asp339His)
c.766G>C (p.Asp256His)
c.674G>C (p.Arg225Pro)
c.648G>C
n.1200G>C
c.1024G>C (p.Asp342His)
gnomAD v4
4g.6300810G=CA1435772206WFS1c.1051G= (p.Asp351=)
c.992G=
c.1015G= (p.Asp339=)
c.766G= (p.Asp256=)
c.674G= (p.Arg225=)
c.648G=
n.1200G=
c.1024G= (p.Asp342=)
4g.6300810G>TCA356174072WFS1c.1051G>T (p.Asp351Tyr)
c.992G>T
c.1015G>T (p.Asp339Tyr)
c.766G>T (p.Asp256Tyr)
c.674G>T (p.Arg225Leu)
c.648G>T
n.1200G>T
c.1024G>T (p.Asp342Tyr)
gnomAD v4
4g.6300810dupCA2760284639WFS1c.1051dup (p.Asp351GlyfsTer?)
c.992dup
c.1015dup (p.Asp339GlyfsTer?)
c.766dup (p.Asp256GlyfsTer?)
c.674dup (p.Leu226ThrfsTer20)
c.648dup
n.1200dup
c.1024dup (p.Asp342GlyfsTer?)
4g.6300811A=CA1435772210WFS1c.1052A= (p.Asp351=)
c.993A=
c.1016A= (p.Asp339=)
c.767A= (p.Asp256=)
c.675A= (p.Arg225=)
c.649A=
n.1201A=
c.1025A= (p.Asp342=)
4g.6300811A>CCA356174074WFS1c.1052A>C (p.Asp351Ala)
c.993A>C
c.1016A>C (p.Asp339Ala)
c.767A>C (p.Asp256Ala)
c.675A>C (p.Arg225=)
c.649A>C
n.1201A>C
c.1025A>C (p.Asp342Ala)
4g.6300811A>GCA356174075WFS1c.1052A>G (p.Asp351Gly)
c.993A>G
c.1016A>G (p.Asp339Gly)
c.767A>G (p.Asp256Gly)
c.675A>G (p.Arg225=)
c.649A>G
n.1201A>G
c.1025A>G (p.Asp342Gly)
ClinVar dbSNP
4g.6300811A>TCA356174076WFS1c.1052A>T (p.Asp351Val)
c.993A>T
c.1016A>T (p.Asp339Val)
c.767A>T (p.Asp256Val)
c.675A>T (p.Arg225=)
c.649A>T
n.1201A>T
c.1025A>T (p.Asp342Val)
4g.6300811_6300814delinsACTTCA1435772209WFS1c.1052_1055delinsACTT (p.Asp351=)
c.993_996delinsACTT
c.1016_1019delinsACTT (p.Asp339=)
c.767_770delinsACTT (p.Asp256=)
c.675_678delinsACTT (p.Arg225=)
c.649_652delinsACTT
n.1201_1204delinsACTT
c.1025_1028delinsACTT (p.Asp342=)
4g.6300812C>ACA356174077WFS1c.1053C>A (p.Asp351Glu)
c.994C>A
c.1017C>A (p.Asp339Glu)
c.768C>A (p.Asp256Glu)
c.676C>A (p.Leu226Ile)
c.650C>A
n.1202C>A
c.1026C>A (p.Asp342Glu)
4g.6300812C=CA1435772212WFS1c.1053C= (p.Asp351=)
c.994C=
c.1017C= (p.Asp339=)
c.768C= (p.Asp256=)
c.676C= (p.Leu226=)
c.650C=
n.1202C=
c.1026C= (p.Asp342=)
4g.6300812C>GCA356174078WFS1c.1053C>G (p.Asp351Glu)
c.994C>G
c.1017C>G (p.Asp339Glu)
c.768C>G (p.Asp256Glu)
c.676C>G (p.Leu226Val)
c.650C>G
n.1202C>G
c.1026C>G (p.Asp342Glu)
ClinVar dbSNP gnomAD v4
4g.6300812C>TCA438367882WFS1c.1053C>T (p.Asp351=)
c.994C>T
c.1017C>T (p.Asp339=)
c.768C>T (p.Asp256=)
c.676C>T (p.Leu226Phe)
c.650C>T
n.1202C>T
c.1026C>T (p.Asp342=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300816_6300818delCA2839193WFS1c.1057_1059del (p.Phe353del)
c.998_1000del
c.1021_1023del (p.Phe341del)
c.772_774del (p.Phe258del)
c.680_682del (p.Leu227del)
c.654_656del
n.1206_1208del
c.1030_1032del (p.Phe344del)
dbSNP ExAC gnomAD v4
4g.6300819_6300827dupCA91796222WFS1c.1060_1068dup (p.Phe356_Ile357insAlaPhePhe)
c.1001_1009dup
c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe)
c.775_783dup (p.Phe261_Ile262insAlaPhePhe)
c.683_691dup (p.Leu230_His231insArgLeuLeu)
c.657_665dup
n.1209_1217dup
c.1033_1041dup (p.Phe347_Ile348insAlaPhePhe)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300819_6300827delCA2578035747WFS1c.1060_1068del (p.Ala354_Phe356del)
c.1001_1009del
c.1024_1032del (p.Ala342_Phe344del)
c.775_783del (p.Ala259_Phe261del)
c.683_691del (p.Arg228_Leu230del)
c.657_665del
n.1209_1217del
c.1033_1041del (p.Ala345_Phe347del)
ClinVar gnomAD v4
4g.6300816_6300827delCA2669843414WFS1c.1057_1068del (p.Phe353_Phe356del)
c.998_1009del
c.1021_1032del (p.Phe341_Phe344del)
c.772_783del (p.Phe258_Phe261del)
c.680_691del (p.Leu227_Leu230del)
c.654_665del
n.1206_1217del
c.1030_1041del (p.Phe344_Phe347del)
gnomAD v4
4g.6300813T>ACA356174079WFS1c.1054T>A (p.Phe352Ile)
c.995T>A
c.1018T>A (p.Phe340Ile)
c.769T>A (p.Phe257Ile)
c.677T>A (p.Leu226His)
c.651T>A
n.1203T>A
c.1027T>A (p.Phe343Ile)
4g.6300813T>CCA356174081WFS1c.1054T>C (p.Phe352Leu)
c.995T>C
c.1018T>C (p.Phe340Leu)
c.769T>C (p.Phe257Leu)
c.677T>C (p.Leu226Pro)
c.651T>C
n.1203T>C
c.1027T>C (p.Phe343Leu)
4g.6300813T>GCA356174080WFS1c.1054T>G (p.Phe352Val)
c.995T>G
c.1018T>G (p.Phe340Val)
c.769T>G (p.Phe257Val)
c.677T>G (p.Leu226Arg)
c.651T>G
n.1203T>G
c.1027T>G (p.Phe343Val)
gnomAD v4
4g.6300814T>ACA356174082WFS1c.1055T>A (p.Phe352Tyr)
c.996T>A
c.1019T>A (p.Phe340Tyr)
c.770T>A (p.Phe257Tyr)
c.678T>A (p.Leu226=)
c.652T>A
n.1204T>A
c.1028T>A (p.Phe343Tyr)
4g.6300814T>CCA356174084WFS1c.1055T>C (p.Phe352Ser)
c.996T>C
c.1019T>C (p.Phe340Ser)
c.770T>C (p.Phe257Ser)
c.678T>C (p.Leu226=)
c.652T>C
n.1204T>C
c.1028T>C (p.Phe343Ser)
4g.6300814T>GCA356174083WFS1c.1055T>G (p.Phe352Cys)
c.996T>G
c.1019T>G (p.Phe340Cys)
c.770T>G (p.Phe257Cys)
c.678T>G (p.Leu226=)
c.652T>G
n.1204T>G
c.1028T>G (p.Phe343Cys)
4g.6300815C>ACA356174085WFS1c.1056C>A (p.Phe352Leu)
c.997C>A
c.1020C>A (p.Phe340Leu)
c.771C>A (p.Phe257Leu)
c.679C>A (p.Leu227Ile)
c.653C>A
n.1205C>A
c.1029C>A (p.Phe343Leu)
gnomAD v4 COSMIC
4g.6300815C=CA1435772215WFS1c.1056C= (p.Phe352=)
c.997C=
c.1020C= (p.Phe340=)
c.771C= (p.Phe257=)
c.679C= (p.Leu227=)
c.653C=
n.1205C=
c.1029C= (p.Phe343=)
4g.6300815C>GCA10576637WFS1c.1056C>G (p.Phe352Leu)
c.997C>G
c.1020C>G (p.Phe340Leu)
c.771C>G (p.Phe257Leu)
c.679C>G (p.Leu227Val)
c.653C>G
n.1205C>G
c.1029C>G (p.Phe343Leu)
ClinVar dbSNP gnomAD v4
4g.6300815C>TCA438367884WFS1c.1056C>T (p.Phe352=)
c.997C>T
c.1020C>T (p.Phe340=)
c.771C>T (p.Phe257=)
c.679C>T (p.Leu227Phe)
c.653C>T
n.1205C>T
c.1029C>T (p.Phe343=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6300816T>ACA356174086WFS1c.1057T>A (p.Phe353Ile)
c.998T>A
c.1021T>A (p.Phe341Ile)
c.772T>A (p.Phe258Ile)
c.680T>A (p.Leu227His)
c.654T>A
n.1206T>A
c.1030T>A (p.Phe344Ile)
4g.6300816T>CCA356174087WFS1c.1057T>C (p.Phe353Leu)
c.998T>C
c.1021T>C (p.Phe341Leu)
c.772T>C (p.Phe258Leu)
c.680T>C (p.Leu227Pro)
c.654T>C
n.1206T>C
c.1030T>C (p.Phe344Leu)
4g.6300816T>GCA356174088WFS1c.1057T>G (p.Phe353Val)
c.998T>G
c.1021T>G (p.Phe341Val)
c.772T>G (p.Phe258Val)
c.680T>G (p.Leu227Arg)
c.654T>G
n.1206T>G
c.1030T>G (p.Phe344Val)
4g.6300817T>ACA356174089WFS1c.1058T>A (p.Phe353Tyr)
c.999T>A
c.1022T>A (p.Phe341Tyr)
c.773T>A (p.Phe258Tyr)
c.681T>A (p.Leu227=)
c.655T>A
n.1207T>A
c.1031T>A (p.Phe344Tyr)
4g.6300817T>CCA356174090WFS1c.1058T>C (p.Phe353Ser)
c.999T>C
c.1022T>C (p.Phe341Ser)
c.773T>C (p.Phe258Ser)
c.681T>C (p.Leu227=)
c.655T>C
n.1207T>C
c.1031T>C (p.Phe344Ser)
4g.6300817T>GCA356174091WFS1c.1058T>G (p.Phe353Cys)
c.999T>G
c.1022T>G (p.Phe341Cys)
c.773T>G (p.Phe258Cys)
c.681T>G (p.Leu227=)
c.655T>G
n.1207T>G
c.1031T>G (p.Phe344Cys)
4g.6300818C>ACA356174092WFS1c.1059C>A (p.Phe353Leu)
c.1000C>A
c.1023C>A (p.Phe341Leu)
c.774C>A (p.Phe258Leu)
c.682C>A (p.Arg228Ser)
c.656C>A
n.1208C>A
c.1032C>A (p.Phe344Leu)
4g.6300818C=CA1435772219WFS1c.1059C= (p.Phe353=)
c.1000C=
c.1023C= (p.Phe341=)
c.774C= (p.Phe258=)
c.682C= (p.Arg228=)
c.656C=
n.1208C=
c.1032C= (p.Phe344=)
4g.6300818C>GCA356174093WFS1c.1059C>G (p.Phe353Leu)
c.1000C>G
c.1023C>G (p.Phe341Leu)
c.774C>G (p.Phe258Leu)
c.682C>G (p.Arg228Gly)
c.656C>G
n.1208C>G
c.1032C>G (p.Phe344Leu)
gnomAD v4
4g.6300818C>TCA282566WFS1c.1059C>T (p.Phe353=)
c.1000C>T
c.1023C>T (p.Phe341=)
c.774C>T (p.Phe258=)
c.682C>T (p.Arg228Cys)
c.656C>T
n.1208C>T
c.1032C>T (p.Phe344=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300819G>ACA231652WFS1c.1060G>A (p.Ala354Thr)
c.1001G>A
c.1024G>A (p.Ala342Thr)
c.775G>A (p.Ala259Thr)
c.683G>A (p.Arg228His)
c.657G>A
n.1209G>A
c.1033G>A (p.Ala345Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300819G>CCA2839194WFS1c.1060G>C (p.Ala354Pro)
c.1001G>C
c.1024G>C (p.Ala342Pro)
c.775G>C (p.Ala259Pro)
c.683G>C (p.Arg228Pro)
c.657G>C
n.1209G>C
c.1033G>C (p.Ala345Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300819G=CA1435772221WFS1c.1060G= (p.Ala354=)
c.1001G=
c.1024G= (p.Ala342=)
c.775G= (p.Ala259=)
c.683G= (p.Arg228=)
c.657G=
n.1209G=
c.1033G= (p.Ala345=)
4g.6300819G>TCA356174094WFS1c.1060G>T (p.Ala354Ser)
c.1001G>T
c.1024G>T (p.Ala342Ser)
c.775G>T (p.Ala259Ser)
c.683G>T (p.Arg228Leu)
c.657G>T
n.1209G>T
c.1033G>T (p.Ala345Ser)
dbSNP gnomAD v4
4g.6300820C>ACA356174095WFS1c.1061C>A (p.Ala354Asp)
c.1002C>A
c.1025C>A (p.Ala342Asp)
c.776C>A (p.Ala259Asp)
c.684C>A (p.Arg228=)
c.658C>A
n.1210C>A
c.1034C>A (p.Ala345Asp)
dbSNP gnomAD v3 gnomAD v4
4g.6300820C=CA1435772224WFS1c.1061C= (p.Ala354=)
c.1002C=
c.1025C= (p.Ala342=)
c.776C= (p.Ala259=)
c.684C= (p.Arg228=)
c.658C=
n.1210C=
c.1034C= (p.Ala345=)
4g.6300820C>GCA356174096WFS1c.1061C>G (p.Ala354Gly)
c.1002C>G
c.1025C>G (p.Ala342Gly)
c.776C>G (p.Ala259Gly)
c.684C>G (p.Arg228=)
c.658C>G
n.1210C>G
c.1034C>G (p.Ala345Gly)
4g.6300820C>TCA356174097WFS1c.1061C>T (p.Ala354Val)
c.1002C>T
c.1025C>T (p.Ala342Val)
c.776C>T (p.Ala259Val)
c.684C>T (p.Arg228=)
c.658C>T
n.1210C>T
c.1034C>T (p.Ala345Val)
ClinVar dbSNP gnomAD v4
4g.6300820_6300823delinsCCTTCA1435772225WFS1c.1061_1064delinsCCTT (p.Ala354=)
c.1002_1005delinsCCTT
c.1025_1028delinsCCTT (p.Ala342=)
c.776_779delinsCCTT (p.Ala259=)
c.684_687delinsCCTT (p.Arg228=)
c.658_661delinsCCTT
n.1210_1213delinsCCTT
c.1034_1037delinsCCTT (p.Ala345=)
4g.6300821C>ACA438367885WFS1c.1062C>A (p.Ala354=)
c.1003C>A
c.1026C>A (p.Ala342=)
c.777C>A (p.Ala259=)
c.685C>A (p.Leu229Ile)
c.659C>A
n.1211C>A
c.1035C>A (p.Ala345=)
4g.6300821C=CA1435772229WFS1c.1062C= (p.Ala354=)
c.1003C=
c.1026C= (p.Ala342=)
c.777C= (p.Ala259=)
c.685C= (p.Leu229=)
c.659C=
n.1211C=
c.1035C= (p.Ala345=)
4g.6300821C>GCA438367886WFS1c.1062C>G (p.Ala354=)
c.1003C>G
c.1026C>G (p.Ala342=)
c.777C>G (p.Ala259=)
c.685C>G (p.Leu229Val)
c.659C>G
n.1211C>G
c.1035C>G (p.Ala345=)
4g.6300821C>TCA2839195WFS1c.1062C>T (p.Ala354=)
c.1003C>T
c.1026C>T (p.Ala342=)
c.777C>T (p.Ala259=)
c.685C>T (p.Leu229Phe)
c.659C>T
n.1211C>T
c.1035C>T (p.Ala345=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300821_6300822delinsCTCA1435772231WFS1c.1062_1063delinsCT (p.Ala354=)
c.1003_1004delinsCT
c.1026_1027delinsCT (p.Ala342=)
c.777_778delinsCT (p.Ala259=)
c.685_686delinsCT (p.Leu229=)
c.659_660delinsCT
n.1211_1212delinsCT
c.1035_1036delinsCT (p.Ala345=)
4g.6300825_6300827delCA1435772228WFS1c.1066_1068del (p.Phe356del)
c.1007_1009del
c.1030_1032del (p.Phe344del)
c.781_783del (p.Phe261del)
c.689_691del (p.Leu230del)
c.663_665del
n.1215_1217del
c.1039_1041del (p.Phe347del)
dbSNP
4g.6300821_6300835delinsCTTCTTCATCCCGCTCA1435772232WFS1c.1062_1076delinsCTTCTTCATCCCGCT (p.Ala354=)
c.1003_1017delinsCTTCTTCATCCCGCT
c.1026_1040delinsCTTCTTCATCCCGCT (p.Ala342=)
c.777_791delinsCTTCTTCATCCCGCT (p.Ala259=)
c.685_699delinsCTTCTTCATCCCGCT (p.Leu229=)
c.659_673delinsCTTCTTCATCCCGCT
n.1211_1225delinsCTTCTTCATCCCGCT
c.1035_1049delinsCTTCTTCATCCCGCT (p.Ala345=)
4g.6300821_6300822insACTCA2760284647WFS1c.1062_1063insACT (p.Ala354_Phe355insThr)
c.1003_1004insACT
c.1026_1027insACT (p.Ala342_Phe343insThr)
c.777_778insACT (p.Ala259_Phe260insThr)
c.685_686insACT (p.Leu229delinsHisPhe)
c.659_660insACT
n.1211_1212insACT
c.1035_1036insACT (p.Ala345_Phe346insThr)
4g.6300822T>ACA356174098WFS1c.1063T>A (p.Phe355Ile)
c.1004T>A
c.1027T>A (p.Phe343Ile)
c.778T>A (p.Phe260Ile)
c.686T>A (p.Leu229His)
c.660T>A
n.1212T>A
c.1036T>A (p.Phe346Ile)
4g.6300822T>CCA356174099WFS1c.1063T>C (p.Phe355Leu)
c.1004T>C
c.1027T>C (p.Phe343Leu)
c.778T>C (p.Phe260Leu)
c.686T>C (p.Leu229Pro)
c.660T>C
n.1212T>C
c.1036T>C (p.Phe346Leu)
gnomAD v4
4g.6300822T>GCA356174100WFS1c.1063T>G (p.Phe355Val)
c.1004T>G
c.1027T>G (p.Phe343Val)
c.778T>G (p.Phe260Val)
c.686T>G (p.Leu229Arg)
c.660T>G
n.1212T>G
c.1036T>G (p.Phe346Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300822T=CA1435772234WFS1c.1063T= (p.Phe355=)
c.1004T=
c.1027T= (p.Phe343=)
c.778T= (p.Phe260=)
c.686T= (p.Leu229=)
c.660T=
n.1212T=
c.1036T= (p.Phe346=)
4g.6300823delCA549707894WFS1c.1064del (p.Phe355SerfsTer16)
c.1005del
c.1028del (p.Phe343SerfsTer16)
c.779del (p.Phe260SerfsTer16)
c.687del (p.Leu230PhefsTer?)
c.661del
n.1213del
c.1037del (p.Phe346SerfsTer16)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300822_6300835delCA1435772235WFS1c.1063_1076del (p.Phe355GlyfsTer?)
c.1004_1017del
c.1027_1040del (p.Phe343GlyfsTer?)
c.778_791del (p.Phe260GlyfsTer?)
c.686_699del (p.Leu229ArgfsTer12)
c.660_673del
n.1212_1225del
c.1036_1049del (p.Phe346GlyfsTer?)
dbSNP
4g.6300823T>ACA356174101WFS1c.1064T>A (p.Phe355Tyr)
c.1005T>A
c.1028T>A (p.Phe343Tyr)
c.779T>A (p.Phe260Tyr)
c.687T>A (p.Leu229=)
c.661T>A
n.1213T>A
c.1037T>A (p.Phe346Tyr)
dbSNP gnomAD v4
4g.6300823T>CCA356174102WFS1c.1064T>C (p.Phe355Ser)
c.1005T>C
c.1028T>C (p.Phe343Ser)
c.779T>C (p.Phe260Ser)
c.687T>C (p.Leu229=)
c.661T>C
n.1213T>C
c.1037T>C (p.Phe346Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300823T>GCA356174103WFS1c.1064T>G (p.Phe355Cys)
c.1005T>G
c.1028T>G (p.Phe343Cys)
c.779T>G (p.Phe260Cys)
c.687T>G (p.Leu229=)
c.661T>G
n.1213T>G
c.1037T>G (p.Phe346Cys)
4g.6300823T=CA1435772237WFS1c.1064T= (p.Phe355=)
c.1005T=
c.1028T= (p.Phe343=)
c.779T= (p.Phe260=)
c.687T= (p.Leu229=)
c.661T=
n.1213T=
c.1037T= (p.Phe346=)
4g.6300824C>ACA356174104WFS1c.1065C>A (p.Phe355Leu)
c.1006C>A
c.1029C>A (p.Phe343Leu)
c.780C>A (p.Phe260Leu)
c.688C>A (p.Leu230Ile)
c.662C>A
n.1214C>A
c.1038C>A (p.Phe346Leu)
dbSNP gnomAD v3 gnomAD v4
4g.6300824C=CA1435772239WFS1c.1065C= (p.Phe355=)
c.1006C=
c.1029C= (p.Phe343=)
c.780C= (p.Phe260=)
c.688C= (p.Leu230=)
c.662C=
n.1214C=
c.1038C= (p.Phe346=)
4g.6300824C>GCA356174105WFS1c.1065C>G (p.Phe355Leu)
c.1006C>G
c.1029C>G (p.Phe343Leu)
c.780C>G (p.Phe260Leu)
c.688C>G (p.Leu230Val)
c.662C>G
n.1214C>G
c.1038C>G (p.Phe346Leu)
gnomAD v4
4g.6300824C>TCA2839196WFS1c.1065C>T (p.Phe355=)
c.1006C>T
c.1029C>T (p.Phe343=)
c.780C>T (p.Phe260=)
c.688C>T (p.Leu230Phe)
c.662C>T
n.1214C>T
c.1038C>T (p.Phe346=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300824dupCA2586973604WFS1c.1065dup (p.Phe356LeufsTer?)
c.1006dup
c.1029dup (p.Phe344LeufsTer?)
c.780dup (p.Phe261LeufsTer?)
c.688dup (p.Leu230ProfsTer16)
c.662dup
n.1214dup
c.1038dup (p.Phe347LeufsTer?)
4g.6300825T>ACA356174106WFS1c.1066T>A (p.Phe356Ile)
c.1007T>A
c.1030T>A (p.Phe344Ile)
c.781T>A (p.Phe261Ile)
c.689T>A (p.Leu230His)
c.663T>A
n.1215T>A
c.1039T>A (p.Phe347Ile)
4g.6300825T>CCA356174107WFS1c.1066T>C (p.Phe356Leu)
c.1007T>C
c.1030T>C (p.Phe344Leu)
c.781T>C (p.Phe261Leu)
c.689T>C (p.Leu230Pro)
c.663T>C
n.1215T>C
c.1039T>C (p.Phe347Leu)
4g.6300825T>GCA356174108WFS1c.1066T>G (p.Phe356Val)
c.1007T>G
c.1030T>G (p.Phe344Val)
c.781T>G (p.Phe261Val)
c.689T>G (p.Leu230Arg)
c.663T>G
n.1215T>G
c.1039T>G (p.Phe347Val)
gnomAD v4
4g.6300826delCA2669843415WFS1c.1067del (p.Phe356SerfsTer15)
c.1008del
c.1031del (p.Phe344SerfsTer15)
c.782del (p.Phe261SerfsTer15)
c.690del (p.His231IlefsTer?)
c.664del
n.1216del
c.1040del (p.Phe347SerfsTer15)
gnomAD v4
4g.6300826T>ACA356174109WFS1c.1067T>A (p.Phe356Tyr)
c.1008T>A
c.1031T>A (p.Phe344Tyr)
c.782T>A (p.Phe261Tyr)
c.690T>A (p.Leu230=)
c.664T>A
n.1216T>A
c.1040T>A (p.Phe347Tyr)
4g.6300826T>CCA356174110WFS1c.1067T>C (p.Phe356Ser)
c.1008T>C
c.1031T>C (p.Phe344Ser)
c.782T>C (p.Phe261Ser)
c.690T>C (p.Leu230=)
c.664T>C
n.1216T>C
c.1040T>C (p.Phe347Ser)
4g.6300826T>GCA356174111WFS1c.1067T>G (p.Phe356Cys)
c.1008T>G
c.1031T>G (p.Phe344Cys)
c.782T>G (p.Phe261Cys)
c.690T>G (p.Leu230=)
c.664T>G
n.1216T>G
c.1040T>G (p.Phe347Cys)
4g.6300826_6300831dupCA2669843416WFS1c.1067_1072dup (p.Ile357_Pro358insLeuIle)
c.1008_1013dup
c.1031_1036dup (p.Ile345_Pro346insLeuIle)
c.782_787dup (p.Ile262_Pro263insLeuIle)
c.690_695dup (p.Pro232_Ala233insHisPro)
c.664_669dup
n.1216_1221dup
c.1040_1045dup (p.Ile348_Pro349insLeuIle)
gnomAD v4
4g.6300827C>ACA356174112WFS1c.1068C>A (p.Phe356Leu)
c.1009C>A
c.1032C>A (p.Phe344Leu)
c.783C>A (p.Phe261Leu)
c.691C>A (p.His231Asn)
c.665C>A
n.1217C>A
c.1041C>A (p.Phe347Leu)
dbSNP gnomAD v3 gnomAD v4
4g.6300827C=CA1435772242WFS1c.1068C= (p.Phe356=)
c.1009C=
c.1032C= (p.Phe344=)
c.783C= (p.Phe261=)
c.691C= (p.His231=)
c.665C=
n.1217C=
c.1041C= (p.Phe347=)
4g.6300827C>GCA356174113WFS1c.1068C>G (p.Phe356Leu)
c.1009C>G
c.1032C>G (p.Phe344Leu)
c.783C>G (p.Phe261Leu)
c.691C>G (p.His231Asp)
c.665C>G
n.1217C>G
c.1041C>G (p.Phe347Leu)
4g.6300827C>TCA2839197WFS1c.1068C>T (p.Phe356=)
c.1009C>T
c.1032C>T (p.Phe344=)
c.783C>T (p.Phe261=)
c.691C>T (p.His231Tyr)
c.665C>T
n.1217C>T
c.1041C>T (p.Phe347=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6300828delCA2669843417WFS1c.1069del (p.Ile357SerfsTer14)
c.1010del
c.1033del (p.Ile345SerfsTer14)
c.784del (p.Ile262SerfsTer14)
c.692del (p.His231LeufsTer?)
c.666del
n.1218del
c.1042del (p.Ile348SerfsTer14)
gnomAD v4
4g.6300828A>CCA356174114WFS1c.1069A>C (p.Ile357Leu)
c.1010A>C
c.1033A>C (p.Ile345Leu)
c.784A>C (p.Ile262Leu)
c.692A>C (p.His231Pro)
c.666A>C
n.1218A>C
c.1042A>C (p.Ile348Leu)
4g.6300828A>GCA356174115WFS1c.1069A>G (p.Ile357Val)
c.1010A>G
c.1033A>G (p.Ile345Val)
c.784A>G (p.Ile262Val)
c.692A>G (p.His231Arg)
c.666A>G
n.1218A>G
c.1042A>G (p.Ile348Val)
4g.6300828A>TCA356174116WFS1c.1069A>T (p.Ile357Phe)
c.1010A>T
c.1033A>T (p.Ile345Phe)
c.784A>T (p.Ile262Phe)
c.692A>T (p.His231Leu)
c.666A>T
n.1218A>T
c.1042A>T (p.Ile348Phe)
4g.6300829T>ACA356174118WFS1c.1070T>A (p.Ile357Asn)
c.1011T>A
c.1034T>A (p.Ile345Asn)
c.785T>A (p.Ile262Asn)
c.693T>A (p.His231Gln)
c.667T>A
n.1219T>A
c.1043T>A (p.Ile348Asn)
4g.6300829T>CCA356174119WFS1c.1070T>C (p.Ile357Thr)
c.1011T>C
c.1034T>C (p.Ile345Thr)
c.785T>C (p.Ile262Thr)
c.693T>C (p.His231=)
c.667T>C
n.1219T>C
c.1043T>C (p.Ile348Thr)
gnomAD v4
4g.6300829T>GCA356174117WFS1c.1070T>G (p.Ile357Ser)
c.1011T>G
c.1034T>G (p.Ile345Ser)
c.785T>G (p.Ile262Ser)
c.693T>G (p.His231Gln)
c.667T>G
n.1219T>G
c.1043T>G (p.Ile348Ser)
dbSNP gnomAD v4
4g.6300829T=CA1435772244WFS1c.1070T= (p.Ile357=)
c.1011T=
c.1034T= (p.Ile345=)
c.785T= (p.Ile262=)
c.693T= (p.His231=)
c.667T=
n.1219T=
c.1043T= (p.Ile348=)
4g.6300830C>ACA438367889WFS1c.1071C>A (p.Ile357=)
c.1012C>A
c.1035C>A (p.Ile345=)
c.786C>A (p.Ile262=)
c.694C>A (p.Pro232Thr)
c.668C>A
n.1220C>A
c.1044C>A (p.Ile348=)
4g.6300830C>GCA356174120WFS1c.1071C>G (p.Ile357Met)
c.1012C>G
c.1035C>G (p.Ile345Met)
c.786C>G (p.Ile262Met)
c.694C>G (p.Pro232Ala)
c.668C>G
n.1220C>G
c.1044C>G (p.Ile348Met)
4g.6300830C>TCA438367890WFS1c.1071C>T (p.Ile357=)
c.1012C>T
c.1035C>T (p.Ile345=)
c.786C>T (p.Ile262=)
c.694C>T (p.Pro232Ser)
c.668C>T
n.1220C>T
c.1044C>T (p.Ile348=)
gnomAD v4
4g.6300832dupCA2586973605WFS1c.1073dup (p.Leu359AlafsTer?)
c.1014dup
c.1037dup (p.Leu347AlafsTer?)
c.788dup (p.Leu264AlafsTer?)
c.696dup (p.Ala233ArgfsTer13)
c.670dup
n.1222dup
c.1046dup (p.Leu350AlafsTer?)
4g.6300831C>ACA356174121WFS1c.1072C>A (p.Pro358Thr)
c.1013C>A
c.1036C>A (p.Pro346Thr)
c.787C>A (p.Pro263Thr)
c.695C>A (p.Pro232His)
c.669C>A
n.1221C>A
c.1045C>A (p.Pro349Thr)
4g.6300831C=CA1435772246WFS1c.1072C= (p.Pro358=)
c.1013C=
c.1036C= (p.Pro346=)
c.787C= (p.Pro263=)
c.695C= (p.Pro232=)
c.669C=
n.1221C=
c.1045C= (p.Pro349=)
4g.6300831C>GCA356174122WFS1c.1072C>G (p.Pro358Ala)
c.1013C>G
c.1036C>G (p.Pro346Ala)
c.787C>G (p.Pro263Ala)
c.695C>G (p.Pro232Arg)
c.669C>G
n.1221C>G
c.1045C>G (p.Pro349Ala)
gnomAD v4
4g.6300831C>TCA356174123WFS1c.1072C>T (p.Pro358Ser)
c.1013C>T
c.1036C>T (p.Pro346Ser)
c.787C>T (p.Pro263Ser)
c.695C>T (p.Pro232Leu)
c.669C>T
n.1221C>T
c.1045C>T (p.Pro349Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300832C>ACA356174125WFS1c.1073C>A (p.Pro358Gln)
c.1014C>A
c.1037C>A (p.Pro346Gln)
c.788C>A (p.Pro263Gln)
c.696C>A (p.Pro232=)
c.670C>A
n.1222C>A
c.1046C>A (p.Pro349Gln)
4g.6300832C=CA1435772250WFS1c.1073C= (p.Pro358=)
c.1014C=
c.1037C= (p.Pro346=)
c.788C= (p.Pro263=)
c.696C= (p.Pro232=)
c.670C=
n.1222C=
c.1046C= (p.Pro349=)
4g.6300832C>GCA356174124WFS1c.1073C>G (p.Pro358Arg)
c.1014C>G
c.1037C>G (p.Pro346Arg)
c.788C>G (p.Pro263Arg)
c.696C>G (p.Pro232=)
c.670C>G
n.1222C>G
c.1046C>G (p.Pro349Arg)
gnomAD v4
4g.6300832C>TCA2839198WFS1c.1073C>T (p.Pro358Leu)
c.1014C>T
c.1037C>T (p.Pro346Leu)
c.788C>T (p.Pro263Leu)
c.696C>T (p.Pro232=)
c.670C>T
n.1222C>T
c.1046C>T (p.Pro349Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300833G>ACA2839199WFS1c.1074G>A (p.Pro358=)
c.1015G>A
c.1038G>A (p.Pro346=)
c.789G>A (p.Pro263=)
c.697G>A (p.Ala233Thr)
c.671G>A
n.1223G>A
c.1047G>A (p.Pro349=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300833G>CCA438367894WFS1c.1074G>C (p.Pro358=)
c.1015G>C
c.1038G>C (p.Pro346=)
c.789G>C (p.Pro263=)
c.697G>C (p.Ala233Pro)
c.671G>C
n.1223G>C
c.1047G>C (p.Pro349=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300833G=CA1435772252WFS1c.1074G= (p.Pro358=)
c.1015G=
c.1038G= (p.Pro346=)
c.789G= (p.Pro263=)
c.697G= (p.Ala233=)
c.671G=
n.1223G=
c.1047G= (p.Pro349=)
4g.6300833G>TCA438367895WFS1c.1074G>T (p.Pro358=)
c.1015G>T
c.1038G>T (p.Pro346=)
c.789G>T (p.Pro263=)
c.697G>T (p.Ala233Ser)
c.671G>T
n.1223G>T
c.1047G>T (p.Pro349=)
4g.6300834_6300836dupCA1058891124WFS1c.1075_1077dup (p.Leu359_Val360insLeu)
c.1016_1018dup
c.1039_1041dup (p.Leu347_Val348insLeu)
c.790_792dup (p.Leu264_Val265insLeu)
c.698_700dup (p.Ala233_Gly234insAla)
c.672_674dup
n.1224_1226dup
c.1048_1050dup (p.Leu350_Val351insLeu)
dbSNP gnomAD v3 gnomAD v4
4g.6300834C>ACA356174126WFS1c.1075C>A (p.Leu359Met)
c.1016C>A
c.1039C>A (p.Leu347Met)
c.790C>A (p.Leu264Met)
c.698C>A (p.Ala233Asp)
c.672C>A
n.1224C>A
c.1048C>A (p.Leu350Met)
4g.6300834C>GCA356174127WFS1c.1075C>G (p.Leu359Val)
c.1016C>G
c.1039C>G (p.Leu347Val)
c.790C>G (p.Leu264Val)
c.698C>G (p.Ala233Gly)
c.672C>G
n.1224C>G
c.1048C>G (p.Leu350Val)
4g.6300834C>TCA438367896WFS1c.1075C>T (p.Leu359=)
c.1016C>T
c.1039C>T (p.Leu347=)
c.790C>T (p.Leu264=)
c.698C>T (p.Ala233Val)
c.672C>T
n.1224C>T
c.1048C>T (p.Leu350=)
4g.6300835T>ACA356174128WFS1c.1076T>A (p.Leu359Gln)
c.1017T>A
c.1040T>A (p.Leu347Gln)
c.791T>A (p.Leu264Gln)
c.699T>A (p.Ala233=)
c.673T>A
n.1225T>A
c.1049T>A (p.Leu350Gln)
4g.6300835T>CCA356174129WFS1c.1076T>C (p.Leu359Pro)
c.1017T>C
c.1040T>C (p.Leu347Pro)
c.791T>C (p.Leu264Pro)
c.699T>C (p.Ala233=)
c.673T>C
n.1225T>C
c.1049T>C (p.Leu350Pro)
dbSNP gnomAD v2 gnomAD v4
4g.6300835T>GCA356174130WFS1c.1076T>G (p.Leu359Arg)
c.1017T>G
c.1040T>G (p.Leu347Arg)
c.791T>G (p.Leu264Arg)
c.699T>G (p.Ala233=)
c.673T>G
n.1225T>G
c.1049T>G (p.Leu350Arg)
4g.6300835T=CA1435772256WFS1c.1076T= (p.Leu359=)
c.1017T=
c.1040T= (p.Leu347=)
c.791T= (p.Leu264=)
c.699T= (p.Ala233=)
c.673T=
n.1225T=
c.1049T= (p.Leu350=)
4g.6300836G>ACA2839200WFS1c.1077G>A (p.Leu359=)
c.1018G>A
c.1041G>A (p.Leu347=)
c.792G>A (p.Leu264=)
c.700G>A (p.Gly234Ser)
c.674G>A
n.1226G>A
c.1050G>A (p.Leu350=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300836G>CCA438367901WFS1c.1077G>C (p.Leu359=)
c.1018G>C
c.1041G>C (p.Leu347=)
c.792G>C (p.Leu264=)
c.700G>C (p.Gly234Arg)
c.674G>C
n.1226G>C
c.1050G>C (p.Leu350=)
4g.6300836G=CA1435772257WFS1c.1077G= (p.Leu359=)
c.1018G=
c.1041G= (p.Leu347=)
c.792G= (p.Leu264=)
c.700G= (p.Gly234=)
c.674G=
n.1226G=
c.1050G= (p.Leu350=)
4g.6300836G>TCA438367900WFS1c.1077G>T (p.Leu359=)
c.1018G>T
c.1041G>T (p.Leu347=)
c.792G>T (p.Leu264=)
c.700G>T (p.Gly234Cys)
c.674G>T
n.1226G>T
c.1050G>T (p.Leu350=)
4g.6300837G>ACA356174132WFS1c.1078G>A (p.Val360Ile)
c.1019G>A
c.1042G>A (p.Val348Ile)
c.793G>A (p.Val265Ile)
c.701G>A (p.Gly234Asp)
c.675G>A
n.1227G>A
c.1051G>A (p.Val351Ile)
4g.6300837G>CCA356174133WFS1c.1078G>C (p.Val360Leu)
c.1019G>C
c.1042G>C (p.Val348Leu)
c.793G>C (p.Val265Leu)
c.701G>C (p.Gly234Ala)
c.675G>C
n.1227G>C
c.1051G>C (p.Val351Leu)
4g.6300837G>TCA356174131WFS1c.1078G>T (p.Val360Phe)
c.1019G>T
c.1042G>T (p.Val348Phe)
c.793G>T (p.Val265Phe)
c.701G>T (p.Gly234Val)
c.675G>T
n.1227G>T
c.1051G>T (p.Val351Phe)
4g.6300838T>ACA356174134WFS1c.1079T>A (p.Val360Asp)
c.1020T>A
c.1043T>A (p.Val348Asp)
c.794T>A (p.Val265Asp)
c.702T>A (p.Gly234=)
c.676T>A
n.1228T>A
c.1052T>A (p.Val351Asp)
4g.6300838T>CCA356174136WFS1c.1079T>C (p.Val360Ala)
c.1020T>C
c.1043T>C (p.Val348Ala)
c.794T>C (p.Val265Ala)
c.702T>C (p.Gly234=)
c.676T>C
n.1228T>C
c.1052T>C (p.Val351Ala)
dbSNP gnomAD v2 gnomAD v4
4g.6300838T>GCA356174135WFS1c.1079T>G (p.Val360Gly)
c.1020T>G
c.1043T>G (p.Val348Gly)
c.794T>G (p.Val265Gly)
c.702T>G (p.Gly234=)
c.676T>G
n.1228T>G
c.1052T>G (p.Val351Gly)
4g.6300838T=CA1435772259WFS1c.1079T= (p.Val360=)
c.1020T=
c.1043T= (p.Val348=)
c.794T= (p.Val265=)
c.702T= (p.Gly234=)
c.676T=
n.1228T=
c.1052T= (p.Val351=)
4g.6300844_6300861delCA2669843418WFS1c.1085_1102del (p.Phe362_Ile367del)
c.1026_1043del
c.1049_1066del (p.Phe350_Ile355del)
c.800_817del (p.Phe267_Ile272del)
c.708_725del (p.Leu237_Leu242del)
c.682_699del
n.1234_1251del
c.1058_1075del (p.Phe353_Ile358del)
gnomAD v4
4g.6300839C>ACA438367903WFS1c.1080C>A (p.Val360=)
c.1021C>A
c.1044C>A (p.Val348=)
c.795C>A (p.Val265=)
c.703C>A (p.His235Asn)
c.677C>A
n.1229C>A
c.1053C>A (p.Val351=)
4g.6300839C=CA1435772261WFS1c.1080C= (p.Val360=)
c.1021C=
c.1044C= (p.Val348=)
c.795C= (p.Val265=)
c.703C= (p.His235=)
c.677C=
n.1229C=
c.1053C= (p.Val351=)
4g.6300839C>GCA2839201WFS1c.1080C>G (p.Val360=)
c.1021C>G
c.1044C>G (p.Val348=)
c.795C>G (p.Val265=)
c.703C>G (p.His235Asp)
c.677C>G
n.1229C>G
c.1053C>G (p.Val351=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6300839C>TCA438367904WFS1c.1080C>T (p.Val360=)
c.1021C>T
c.1044C>T (p.Val348=)
c.795C>T (p.Val265=)
c.703C>T (p.His235Tyr)
c.677C>T
n.1229C>T
c.1053C>T (p.Val351=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300840A=CA1435772263WFS1c.1081A= (p.Ile361=)
c.1022A=
c.1045A= (p.Ile349=)
c.796A= (p.Ile266=)
c.704A= (p.His235=)
c.678A=
n.1230A=
c.1054A= (p.Ile352=)
4g.6300840A>CCA356174138WFS1c.1081A>C (p.Ile361Leu)
c.1022A>C
c.1045A>C (p.Ile349Leu)
c.796A>C (p.Ile266Leu)
c.704A>C (p.His235Pro)
c.678A>C
n.1230A>C
c.1054A>C (p.Ile352Leu)
4g.6300840A>GCA356174137WFS1c.1081A>G (p.Ile361Val)
c.1022A>G
c.1045A>G (p.Ile349Val)
c.796A>G (p.Ile266Val)
c.704A>G (p.His235Arg)
c.678A>G
n.1230A>G
c.1054A>G (p.Ile352Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6300840A>TCA356174139WFS1c.1081A>T (p.Ile361Phe)
c.1022A>T
c.1045A>T (p.Ile349Phe)
c.796A>T (p.Ile266Phe)
c.704A>T (p.His235Leu)
c.678A>T
n.1230A>T
c.1054A>T (p.Ile352Phe)
4g.6300840_6300843delinsATCTCA1435772264WFS1c.1081_1084delinsATCT (p.Ile361=)
c.1022_1025delinsATCT
c.1045_1048delinsATCT (p.Ile349=)
c.796_799delinsATCT (p.Ile266=)
c.704_707delinsATCT (p.His235=)
c.678_681delinsATCT
n.1230_1233delinsATCT
c.1054_1057delinsATCT (p.Ile352=)

Number of alleles fetched