Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6300741_6300744delinsTCCA | CA1435772084 | WFS1 | c.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=) | |
4 | g.6300745_6300747del | CA2839163 | WFS1 | c.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 |
4 | g.6300743C>A | CA438211482 | WFS1 | c.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=) | |
4 | g.6300743C= | CA1435772090 | WFS1 | c.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=) | |
4 | g.6300743C>G | CA438211483 | WFS1 | c.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=) | |
4 | g.6300743C>T | CA2839164 | WFS1 | c.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 |
4 | g.6300744A= | CA1435772092 | WFS1 | c.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=) | |
4 | g.6300744A>C | CA356173944 | WFS1 | c.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 |
4 | g.6300744A>G | CA356173945 | WFS1 | c.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 |
4 | g.6300744A>T | CA356173946 | WFS1 | c.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) | |
4 | g.6300745C>A | CA356173947 | WFS1 | c.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) | |
4 | g.6300745C= | CA1435772094 | WFS1 | c.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=) | |
4 | g.6300745C>G | CA2839165 | WFS1 | c.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 |
4 | g.6300745C>T | CA356173948 | WFS1 | c.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 |
4 | g.6300745_6300748delinsCCAT | CA1435772095 | WFS1 | c.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=) | |
4 | g.6300746C>A | CA2839167 | WFS1 | c.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 |
4 | g.6300746C= | CA1435772097 | WFS1 | c.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=) | |
4 | g.6300746C>G | CA438211484 | WFS1 | c.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=) | |
4 | g.6300746C>T | CA2839166 | WFS1 | c.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 |
4 | g.6300750_6300752del | CA797206182 | WFS1 | c.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 |
4 | g.6300747A= | CA1435772100 | WFS1 | c.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=) | |
4 | g.6300747A>C | CA356173949 | WFS1 | c.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) | |
4 | g.6300747A>G | CA356173951 | WFS1 | c.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 |
4 | g.6300747A>T | CA356173950 | WFS1 | c.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 |
4 | g.6300748T>A | CA356173952 | WFS1 | c.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) | |
4 | g.6300748T>C | CA356173953 | WFS1 | c.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) | |
4 | g.6300748T>G | CA356173954 | WFS1 | c.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) | |
4 | g.6300749C>A | CA438211485 | WFS1 | c.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=) | |
4 | g.6300749C= | CA1435772102 | WFS1 | c.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=) | |
4 | g.6300749C>G | CA356173955 | WFS1 | c.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) | |
4 | g.6300749C>T | CA438211486 | WFS1 | c.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 |
4 | g.6300750A= | CA1435772105 | WFS1 | c.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=) | |
4 | g.6300750A>C | CA356173956 | WFS1 | c.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) | |
4 | g.6300750A>G | CA356173957 | WFS1 | c.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) | |
4 | g.6300750A>T | CA91796214 | WFS1 | c.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 |
4 | g.6300751T>A | CA356173958 | WFS1 | c.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) | |
4 | g.6300751T>C | CA356173959 | WFS1 | c.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) | |
4 | g.6300751T>G | CA356173960 | WFS1 | c.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) | |
4 | g.6300752C>A | CA438211488 | WFS1 | c.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=) | |
4 | g.6300752C>G | CA356173961 | WFS1 | c.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) | |
4 | g.6300752C>T | CA438211487 | WFS1 | c.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 |
4 | g.6300755dup | CA2838229020 | WFS1 | c.996dup (p.Thr333HisfsTer?) c.937dup c.960dup (p.Thr321HisfsTer?) c.711dup (p.Thr238HisfsTer?) c.661-42dup (n.661-42dup) c.593dup n.1145dup n.518dup c.969dup (p.Thr324HisfsTer?) | |
4 | g.6300755del | CA2739270014 | WFS1 | c.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 |
4 | g.6300753C>A | CA356173964 | WFS1 | c.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) | |
4 | g.6300753C= | CA1435772108 | WFS1 | c.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=) | |
4 | g.6300753C>G | CA356173962 | WFS1 | c.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) | |
4 | g.6300753C>T | CA356173963 | WFS1 | c.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 |
4 | g.6300753_6300756delinsTCC | CA2586973601 | WFS1 | c.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 |
4 | g.6300754C>A | CA356173965 | WFS1 | c.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) | |
4 | g.6300754C= | CA1435772109 | WFS1 | c.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=) | |
4 | g.6300754C>G | CA356173966 | WFS1 | c.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 |
4 | g.6300754C>T | CA356173967 | WFS1 | c.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 |
4 | g.6300755C>A | CA438211489 | WFS1 | c.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 |
4 | g.6300755C= | CA1435772111 | WFS1 | c.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=) | |
4 | g.6300755C>G | CA438211490 | WFS1 | c.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=) | |
4 | g.6300755C>T | CA2839168 | WFS1 | c.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 |
4 | g.6300756del | CA2669843410 | WFS1 | c.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 |
4 | g.6300756A= | CA1435772112 | WFS1 | c.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=) | |
4 | g.6300756A>C | CA356173968 | WFS1 | c.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 |
4 | g.6300756A>G | CA356173969 | WFS1 | c.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 |
4 | g.6300756A>T | CA356173970 | WFS1 | c.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) | |
4 | g.6300757C>A | CA356173971 | WFS1 | c.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) | |
4 | g.6300757C= | CA1435772115 | WFS1 | c.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=) | |
4 | g.6300757C>G | CA91796215 | WFS1 | c.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 |
4 | g.6300757C>T | CA2839169 | WFS1 | c.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 |
4 | g.6300758G>A | CA2839170 | WFS1 | c.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 |
4 | g.6300758G>C | CA438211492 | WFS1 | c.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 |
4 | g.6300758G= | CA1435772117 | WFS1 | c.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=) | |
4 | g.6300758G>T | CA438211491 | WFS1 | c.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=) | |
4 | g.6300758_6300761delinsGCAC | CA1435772118 | WFS1 | c.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=) | |
4 | g.6300759C>A | CA356173972 | WFS1 | c.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) | |
4 | g.6300759C= | CA1435772120 | WFS1 | c.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=) | |
4 | g.6300759C>G | CA356173974 | WFS1 | c.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) | |
4 | g.6300759C>T | CA356173973 | WFS1 | c.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 |
4 | g.6300762_6300764del | CA2839171 | WFS1 | c.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 |
4 | g.6300760A= | CA1435772122 | WFS1 | c.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=) | |
4 | g.6300760A>C | CA356173975 | WFS1 | c.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) | |
4 | g.6300760A>G | CA356173976 | WFS1 | c.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 |
4 | g.6300760A>T | CA356173977 | WFS1 | c.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) | |
4 | g.6300761C>A | CA356173978 | WFS1 | c.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) | |
4 | g.6300761C= | CA1435772126 | WFS1 | c.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=) | |
4 | g.6300761C>G | CA2839173 | WFS1 | c.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 |
4 | g.6300761C>T | CA2839172 | WFS1 | c.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 |
4 | g.6300762C>A | CA91796216 | WFS1 | c.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 |
4 | g.6300762C= | CA1435772129 | WFS1 | c.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=) | |
4 | g.6300762C>G | CA356173979 | WFS1 | c.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) | |
4 | g.6300762C>T | CA356173980 | WFS1 | c.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 |
4 | g.6300762_6300763delinsAT | CA2580071759 | WFS1 | c.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 |
4 | g.6300763A= | CA1435772131 | WFS1 | c.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=) | |
4 | g.6300763A>C | CA356173982 | WFS1 | c.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) | |
4 | g.6300763A>G | CA356173981 | WFS1 | c.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 |
4 | g.6300763A>T | CA91796217 | WFS1 | c.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 |
4 | g.6300764C>A | CA356173983 | WFS1 | c.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) | |
4 | g.6300764C= | CA1435772134 | WFS1 | c.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=) | |
4 | g.6300764C>G | CA356173984 | WFS1 | c.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) | |
4 | g.6300764C>T | CA2839174 | WFS1 | c.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 |
4 | g.6300768_6300779del | CA2580610797 | WFS1 | c.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) | |
4 | g.6300765A= | CA1435772136 | WFS1 | c.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=) | |
4 | g.6300765A>C | CA2839175 | WFS1 | c.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 |
4 | g.6300765A>G | CA356173985 | WFS1 | c.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 |
4 | g.6300765A>T | CA356173986 | WFS1 | c.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 |
4 | g.6300765_6300774delinsATCAACGCGC | CA1435772137 | WFS1 | c.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=) | |
4 | g.6300766T>A | CA356173987 | WFS1 | c.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) | |
4 | g.6300766T>C | CA356173988 | WFS1 | c.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) | |
4 | g.6300766T>G | CA356173989 | WFS1 | c.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) | |
4 | g.6300769_6300777del | CA1435772140 | WFS1 | c.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 |
4 | g.6300767C>A | CA438211494 | WFS1 | c.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=) | |
4 | g.6300767C= | CA1435772142 | WFS1 | c.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=) | |
4 | g.6300767C>G | CA356173990 | WFS1 | c.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 |
4 | g.6300767C>T | CA438211493 | WFS1 | c.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=) | |
4 | g.6300768A>C | CA356173991 | WFS1 | c.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) | |
4 | g.6300768A>G | CA356173992 | WFS1 | c.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 |
4 | g.6300768A>T | CA356173993 | WFS1 | c.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) | |
4 | g.6300769A= | CA1435772143 | WFS1 | c.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=) | |
4 | g.6300769A>C | CA356173995 | WFS1 | c.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) | |
4 | g.6300769A>G | CA2839176 | WFS1 | c.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 |
4 | g.6300769A>T | CA356173994 | WFS1 | c.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) | |
4 | g.6300770C>A | CA356173996 | WFS1 | c.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) | |
4 | g.6300770C= | CA1435772145 | WFS1 | c.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=) | |
4 | g.6300770C>G | CA356173997 | WFS1 | c.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 |
4 | g.6300770C>T | CA2839177 | WFS1 | c.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 |
4 | g.6300771G>A | CA321512 | WFS1 | c.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 |
4 | g.6300771G>C | CA356173998 | WFS1 | c.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) | |
4 | g.6300771G= | CA1435772148 | WFS1 | c.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=) | |
4 | g.6300771G>T | CA91796218 | WFS1 | c.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 |
4 | g.6300772C>A | CA356173999 | WFS1 | c.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) | |
4 | g.6300772C= | CA1435772150 | WFS1 | c.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=) | |
4 | g.6300772C>G | CA2839179 | WFS1 | c.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 |
4 | g.6300772C>T | CA2839178 | WFS1 | c.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 |
4 | g.6300773G>A | CA2839180 | WFS1 | c.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 |
4 | g.6300773G>C | CA438211495 | WFS1 | c.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 |
4 | g.6300773G= | CA1435772153 | WFS1 | c.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=) | |
4 | g.6300773G>T | CA438211496 | WFS1 | c.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 |
4 | g.6300774C>A | CA91796219 | WFS1 | c.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 |
4 | g.6300774C= | CA1435772156 | WFS1 | c.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=) | |
4 | g.6300774C>G | CA356174000 | WFS1 | c.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 |
4 | g.6300774C>T | CA356174001 | WFS1 | c.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 |
4 | g.6300775T>A | CA356174003 | WFS1 | c.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) | |
4 | g.6300775T>C | CA356174004 | WFS1 | c.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 |
4 | g.6300775T>G | CA356174002 | WFS1 | c.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) | |
4 | g.6300775T= | CA1435772158 | WFS1 | c.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=) | |
4 | g.6300775_6300805delinsTCATCTTCTTCTTCATCGTCAGCAACCTCAC | CA1435772159 | WFS1 | c.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=) | |
4 | g.6300776C>A | CA438211497 | WFS1 | c.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=) | |
4 | g.6300776C= | CA1435772161 | WFS1 | c.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=) | |
4 | g.6300776C>G | CA438211498 | WFS1 | c.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 |
4 | g.6300776C>T | CA438211499 | WFS1 | c.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 |
4 | g.6300780_6300809del | CA1058891029 | WFS1 | c.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 |
4 | g.6300777A= | CA1435772163 | WFS1 | c.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=) | |
4 | g.6300777A>C | CA356174005 | WFS1 | c.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) | |
4 | g.6300777A>G | CA356174006 | WFS1 | c.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 |
4 | g.6300777A>T | CA356174007 | WFS1 | c.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 |
4 | g.6300778T>A | CA356174008 | WFS1 | c.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) | |
4 | g.6300778T>C | CA356174009 | WFS1 | c.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) | |
4 | g.6300778T>G | CA356174010 | WFS1 | c.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) | |
4 | g.6300778_6300788del | CA2669843412 | WFS1 | c.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 |
4 | g.6300786_6300788del | CA2669843411 | WFS1 | c.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 |
4 | g.6300779C>A | CA438211500 | WFS1 | c.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=) | |
4 | g.6300779C= | CA1435772165 | WFS1 | c.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=) | |
4 | g.6300779C>G | CA356174011 | WFS1 | c.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) | |
4 | g.6300779C>T | CA438211501 | WFS1 | c.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 |
4 | g.6300780T>A | CA2839181 | WFS1 | c.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 |
4 | g.6300780T>C | CA356174012 | WFS1 | c.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 |
4 | g.6300780T>G | CA356174013 | WFS1 | c.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) | |
4 | g.6300780T= | CA1435772167 | WFS1 | c.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=) | |
4 | g.6300781T>A | CA356174014 | WFS1 | c.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) | |
4 | g.6300781T>C | CA356174015 | WFS1 | c.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) | |
4 | g.6300781T>G | CA356174016 | WFS1 | c.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) | |
4 | g.6300782C>A | CA356174017 | WFS1 | c.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) | |
4 | g.6300782C= | CA1435772169 | WFS1 | c.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=) | |
4 | g.6300782C>G | CA356174018 | WFS1 | c.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 |
4 | g.6300782C>T | CA2839182 | WFS1 | c.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 |
4 | g.6300783T>A | CA356174019 | WFS1 | c.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 |
4 | g.6300783T>C | CA356174020 | WFS1 | c.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) | |
4 | g.6300783T>G | CA356174021 | WFS1 | c.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) | |
4 | g.6300784T>A | CA356174022 | WFS1 | c.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) | |
4 | g.6300784T>C | CA356174023 | WFS1 | c.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) | |
4 | g.6300784T>G | CA356174024 | WFS1 | c.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) | |
4 | g.6300785C>A | CA356174025 | WFS1 | c.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) | |
4 | g.6300785C= | CA1435772171 | WFS1 | c.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=) | |
4 | g.6300785C>G | CA356174026 | WFS1 | c.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 |
4 | g.6300785C>T | CA438211502 | WFS1 | c.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 |
4 | g.6300786T>A | CA2839183 | WFS1 | c.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 |
4 | g.6300786T>C | CA356174027 | WFS1 | c.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) | |
4 | g.6300786T>G | CA356174028 | WFS1 | c.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) | |
4 | g.6300786T= | CA1435772174 | WFS1 | c.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=) | |
4 | g.6300787T>A | CA356174031 | WFS1 | c.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) | |
4 | g.6300787T>C | CA356174030 | WFS1 | c.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) | |
4 | g.6300787T>G | CA356174029 | WFS1 | c.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) | |
4 | g.6300789_6300791dup | CA2697557065 | WFS1 | c.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 |
4 | g.6300788C>A | CA356174033 | WFS1 | c.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) | |
4 | g.6300788C= | CA1435772176 | WFS1 | c.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=) | |
4 | g.6300788C>G | CA356174032 | WFS1 | c.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) | |
4 | g.6300788C>T | CA2839184 | WFS1 | c.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 |
4 | g.6300789A= | CA1435772178 | WFS1 | c.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=) | |
4 | g.6300789A>C | CA356174034 | WFS1 | c.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) | |
4 | g.6300789A>G | CA2839185 | WFS1 | c.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 |
4 | g.6300789A>T | CA10606909 | WFS1 | c.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 |
4 | g.6300790T>A | CA356174035 | WFS1 | c.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) | |
4 | g.6300790T>C | CA2839186 | WFS1 | c.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 |
4 | g.6300790T>G | CA356174036 | WFS1 | c.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) | |
4 | g.6300790T= | CA1435772180 | WFS1 | c.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=) | |
4 | g.6300792_6300794del | CA2669843413 | WFS1 | c.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 |
4 | g.6300791C>A | CA2839187 | WFS1 | c.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 |
4 | g.6300791C= | CA1435772184 | WFS1 | c.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=) | |
4 | g.6300791C>G | CA356174037 | WFS1 | c.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 |
4 | g.6300791C>T | CA2839188 | WFS1 | c.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 |
4 | g.6300791_6300792delinsAA | CA2499217321 | WFS1 | c.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 |
4 | g.6300792G>A | CA136363 | WFS1 | c.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 |
4 | g.6300792G>C | CA356174038 | WFS1 | c.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 |
4 | g.6300792G= | CA1435772189 | WFS1 | c.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=) | |
4 | g.6300792G>T | CA182614 | WFS1 | c.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 |
4 | g.6300792_6300793delinsAC | CA2573138323 | WFS1 | c.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 |
4 | g.6300793T>A | CA356174040 | WFS1 | c.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) | |
4 | g.6300793T>C | CA356174041 | WFS1 | c.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) | |
4 | g.6300793T>G | CA356174039 | WFS1 | c.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) | |
4 | g.6300794C>A | CA438367849 | WFS1 | c.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=) | |
4 | g.6300794C= | CA1435772190 | WFS1 | c.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=) | |
4 | g.6300794C>G | CA438367848 | WFS1 | c.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=) | |
4 | g.6300794C>T | CA438367850 | WFS1 | c.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 |
4 | g.6300796_6300798dup | CA2578035746 | WFS1 | c.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) | |
4 | g.6300795A>C | CA356174042 | WFS1 | c.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 |
4 | g.6300795A>G | CA356174043 | WFS1 | c.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) | |
4 | g.6300795A>T | CA356174044 | WFS1 | c.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) | |
4 | g.6300796G>A | CA2839189 | WFS1 | c.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 |
4 | g.6300796G>C | CA356174045 | WFS1 | c.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) | |
4 | g.6300796G= | CA1435772192 | WFS1 | c.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=) | |
4 | g.6300796G>T | CA356174046 | WFS1 | c.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) | |
4 | g.6300797C>A | CA356174047 | WFS1 | c.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) | |
4 | g.6300797C= | CA1435772193 | WFS1 | c.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=) | |
4 | g.6300797C>G | CA356174048 | WFS1 | c.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 |
4 | g.6300797C>T | CA438367857 | WFS1 | c.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 |
4 | g.6300798A= | CA1435772194 | WFS1 | c.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=) | |
4 | g.6300798A>C | CA356174049 | WFS1 | c.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) | |
4 | g.6300798A>G | CA356174050 | WFS1 | c.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) | |
4 | g.6300798A>T | CA356174051 | WFS1 | c.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 |
4 | g.6300799A>C | CA356174052 | WFS1 | c.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 |
4 | g.6300799A>G | CA356174053 | WFS1 | c.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) | |
4 | g.6300799A>T | CA356174054 | WFS1 | c.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) | |
4 | g.6300800C>A | CA356174055 | WFS1 | c.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) | |
4 | g.6300800C= | CA1435772196 | WFS1 | c.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=) | |
4 | g.6300800C>G | CA356174056 | WFS1 | c.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) | |
4 | g.6300800C>T | CA438367859 | WFS1 | c.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 |
4 | g.6300801C>A | CA356174057 | WFS1 | c.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) | |
4 | g.6300801C= | CA1435772197 | WFS1 | c.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=) | |
4 | g.6300801C>G | CA91796220 | WFS1 | c.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 |
4 | g.6300801C>T | CA91796221 | WFS1 | c.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 |
4 | g.6300803_6300813del | CA2573052345 | WFS1 | c.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 |
4 | g.6300802T>A | CA356174058 | WFS1 | c.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) | |
4 | g.6300802T>C | CA356174059 | WFS1 | c.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) | |
4 | g.6300802T>G | CA356174060 | WFS1 | c.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) | |
4 | g.6300803C>A | CA438367864 | WFS1 | c.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 |
4 | g.6300803C= | CA1435772199 | WFS1 | c.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=) | |
4 | g.6300803C>G | CA2839190 | WFS1 | c.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 |
4 | g.6300803C>T | CA438367865 | WFS1 | c.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 |
4 | g.6300804A>C | CA356174061 | WFS1 | c.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) | |
4 | g.6300804A>G | CA356174062 | WFS1 | c.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 |
4 | g.6300804A>T | CA356174063 | WFS1 | c.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) | |
4 | g.6300805C>A | CA356174064 | WFS1 | c.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) | |
4 | g.6300805C>G | CA356174065 | WFS1 | c.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) | |
4 | g.6300805C>T | CA356174066 | WFS1 | c.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 |
4 | g.6300806C>A | CA438367870 | WFS1 | c.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=) | |
4 | g.6300806C= | CA1435772200 | WFS1 | c.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=) | |
4 | g.6300806C>G | CA438367871 | WFS1 | c.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=) | |
4 | g.6300806C>T | CA438367872 | WFS1 | c.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 |
4 | g.6300807A= | CA1435772202 | WFS1 | c.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=) | |
4 | g.6300807A>C | CA356174068 | WFS1 | c.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 |
4 | g.6300807A>G | CA2839191 | WFS1 | c.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 |
4 | g.6300807A>T | CA356174067 | WFS1 | c.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) | |
4 | g.6300808T>A | CA356174069 | WFS1 | c.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) | |
4 | g.6300808T>C | CA356174070 | WFS1 | c.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) | |
4 | g.6300808T>G | CA356174071 | WFS1 | c.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) | |
4 | g.6300808_6300809delinsAT | CA2573138324 | WFS1 | c.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 |
4 | g.6300809C>A | CA438367874 | WFS1 | c.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 |
4 | g.6300809C= | CA1435772204 | WFS1 | c.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=) | |
4 | g.6300809C>G | CA2839192 | WFS1 | c.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 |
4 | g.6300809C>T | CA438367875 | WFS1 | c.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 |
4 | g.6300810G>A | CA323935 | WFS1 | c.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 |
4 | g.6300810G>C | CA356174073 | WFS1 | c.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 |
4 | g.6300810G= | CA1435772206 | WFS1 | c.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=) | |
4 | g.6300810G>T | CA356174072 | WFS1 | c.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 |
4 | g.6300810dup | CA2760284639 | WFS1 | c.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?) | |
4 | g.6300811A= | CA1435772210 | WFS1 | c.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=) | |
4 | g.6300811A>C | CA356174074 | WFS1 | c.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) | |
4 | g.6300811A>G | CA356174075 | WFS1 | c.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 |
4 | g.6300811A>T | CA356174076 | WFS1 | c.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) | |
4 | g.6300811_6300814delinsACTT | CA1435772209 | WFS1 | c.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=) | |
4 | g.6300812C>A | CA356174077 | WFS1 | c.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) | |
4 | g.6300812C= | CA1435772212 | WFS1 | c.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=) | |
4 | g.6300812C>G | CA356174078 | WFS1 | c.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 |
4 | g.6300812C>T | CA438367882 | WFS1 | c.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 |
4 | g.6300816_6300818del | CA2839193 | WFS1 | c.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 |
4 | g.6300819_6300827dup | CA91796222 | WFS1 | c.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 |
4 | g.6300819_6300827del | CA2578035747 | WFS1 | c.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 |
4 | g.6300816_6300827del | CA2669843414 | WFS1 | c.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 |
4 | g.6300813T>A | CA356174079 | WFS1 | c.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) | |
4 | g.6300813T>C | CA356174081 | WFS1 | c.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) | |
4 | g.6300813T>G | CA356174080 | WFS1 | c.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 |
4 | g.6300814T>A | CA356174082 | WFS1 | c.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) | |
4 | g.6300814T>C | CA356174084 | WFS1 | c.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) | |
4 | g.6300814T>G | CA356174083 | WFS1 | c.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) | |
4 | g.6300815C>A | CA356174085 | WFS1 | c.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 |
4 | g.6300815C= | CA1435772215 | WFS1 | c.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=) | |
4 | g.6300815C>G | CA10576637 | WFS1 | c.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 |
4 | g.6300815C>T | CA438367884 | WFS1 | c.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 |
4 | g.6300816T>A | CA356174086 | WFS1 | c.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) | |
4 | g.6300816T>C | CA356174087 | WFS1 | c.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) | |
4 | g.6300816T>G | CA356174088 | WFS1 | c.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) | |
4 | g.6300817T>A | CA356174089 | WFS1 | c.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) | |
4 | g.6300817T>C | CA356174090 | WFS1 | c.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) | |
4 | g.6300817T>G | CA356174091 | WFS1 | c.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) | |
4 | g.6300818C>A | CA356174092 | WFS1 | c.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) | |
4 | g.6300818C= | CA1435772219 | WFS1 | c.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=) | |
4 | g.6300818C>G | CA356174093 | WFS1 | c.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 |
4 | g.6300818C>T | CA282566 | WFS1 | c.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 |
4 | g.6300819G>A | CA231652 | WFS1 | c.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 |
4 | g.6300819G>C | CA2839194 | WFS1 | c.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 |
4 | g.6300819G= | CA1435772221 | WFS1 | c.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=) | |
4 | g.6300819G>T | CA356174094 | WFS1 | c.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 |
4 | g.6300820C>A | CA356174095 | WFS1 | c.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 |
4 | g.6300820C= | CA1435772224 | WFS1 | c.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=) | |
4 | g.6300820C>G | CA356174096 | WFS1 | c.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) | |
4 | g.6300820C>T | CA356174097 | WFS1 | c.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 |
4 | g.6300820_6300823delinsCCTT | CA1435772225 | WFS1 | c.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=) | |
4 | g.6300821C>A | CA438367885 | WFS1 | c.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=) | |
4 | g.6300821C= | CA1435772229 | WFS1 | c.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=) | |
4 | g.6300821C>G | CA438367886 | WFS1 | c.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=) | |
4 | g.6300821C>T | CA2839195 | WFS1 | c.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 |
4 | g.6300821_6300822delinsCT | CA1435772231 | WFS1 | c.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=) | |
4 | g.6300825_6300827del | CA1435772228 | WFS1 | c.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 |
4 | g.6300821_6300835delinsCTTCTTCATCCCGCT | CA1435772232 | WFS1 | c.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=) | |
4 | g.6300821_6300822insACT | CA2760284647 | WFS1 | c.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) | |
4 | g.6300822T>A | CA356174098 | WFS1 | c.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) | |
4 | g.6300822T>C | CA356174099 | WFS1 | c.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 |
4 | g.6300822T>G | CA356174100 | WFS1 | c.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 |
4 | g.6300822T= | CA1435772234 | WFS1 | c.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=) | |
4 | g.6300823del | CA549707894 | WFS1 | c.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 |
4 | g.6300822_6300835del | CA1435772235 | WFS1 | c.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 |
4 | g.6300823T>A | CA356174101 | WFS1 | c.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 |
4 | g.6300823T>C | CA356174102 | WFS1 | c.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 |
4 | g.6300823T>G | CA356174103 | WFS1 | c.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) | |
4 | g.6300823T= | CA1435772237 | WFS1 | c.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=) | |
4 | g.6300824C>A | CA356174104 | WFS1 | c.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 |
4 | g.6300824C= | CA1435772239 | WFS1 | c.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=) | |
4 | g.6300824C>G | CA356174105 | WFS1 | c.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 |
4 | g.6300824C>T | CA2839196 | WFS1 | c.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 |
4 | g.6300824dup | CA2586973604 | WFS1 | c.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?) | |
4 | g.6300825T>A | CA356174106 | WFS1 | c.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) | |
4 | g.6300825T>C | CA356174107 | WFS1 | c.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) | |
4 | g.6300825T>G | CA356174108 | WFS1 | c.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 |
4 | g.6300826del | CA2669843415 | WFS1 | c.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 |
4 | g.6300826T>A | CA356174109 | WFS1 | c.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) | |
4 | g.6300826T>C | CA356174110 | WFS1 | c.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) | |
4 | g.6300826T>G | CA356174111 | WFS1 | c.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) | |
4 | g.6300826_6300831dup | CA2669843416 | WFS1 | c.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 |
4 | g.6300827C>A | CA356174112 | WFS1 | c.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 |
4 | g.6300827C= | CA1435772242 | WFS1 | c.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=) | |
4 | g.6300827C>G | CA356174113 | WFS1 | c.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) | |
4 | g.6300827C>T | CA2839197 | WFS1 | c.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 |
4 | g.6300828del | CA2669843417 | WFS1 | c.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 |
4 | g.6300828A>C | CA356174114 | WFS1 | c.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) | |
4 | g.6300828A>G | CA356174115 | WFS1 | c.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) | |
4 | g.6300828A>T | CA356174116 | WFS1 | c.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) | |
4 | g.6300829T>A | CA356174118 | WFS1 | c.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) | |
4 | g.6300829T>C | CA356174119 | WFS1 | c.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 |
4 | g.6300829T>G | CA356174117 | WFS1 | c.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 |
4 | g.6300829T= | CA1435772244 | WFS1 | c.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=) | |
4 | g.6300830C>A | CA438367889 | WFS1 | c.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=) | |
4 | g.6300830C>G | CA356174120 | WFS1 | c.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) | |
4 | g.6300830C>T | CA438367890 | WFS1 | c.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 |
4 | g.6300832dup | CA2586973605 | WFS1 | c.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?) | |
4 | g.6300831C>A | CA356174121 | WFS1 | c.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) | |
4 | g.6300831C= | CA1435772246 | WFS1 | c.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=) | |
4 | g.6300831C>G | CA356174122 | WFS1 | c.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 |
4 | g.6300831C>T | CA356174123 | WFS1 | c.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 |
4 | g.6300832C>A | CA356174125 | WFS1 | c.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) | |
4 | g.6300832C= | CA1435772250 | WFS1 | c.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=) | |
4 | g.6300832C>G | CA356174124 | WFS1 | c.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 |
4 | g.6300832C>T | CA2839198 | WFS1 | c.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 |
4 | g.6300833G>A | CA2839199 | WFS1 | c.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 |
4 | g.6300833G>C | CA438367894 | WFS1 | c.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 |
4 | g.6300833G= | CA1435772252 | WFS1 | c.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=) | |
4 | g.6300833G>T | CA438367895 | WFS1 | c.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=) | |
4 | g.6300834_6300836dup | CA1058891124 | WFS1 | c.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 |
4 | g.6300834C>A | CA356174126 | WFS1 | c.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) | |
4 | g.6300834C>G | CA356174127 | WFS1 | c.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) | |
4 | g.6300834C>T | CA438367896 | WFS1 | c.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=) | |
4 | g.6300835T>A | CA356174128 | WFS1 | c.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) | |
4 | g.6300835T>C | CA356174129 | WFS1 | c.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 |
4 | g.6300835T>G | CA356174130 | WFS1 | c.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) | |
4 | g.6300835T= | CA1435772256 | WFS1 | c.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=) | |
4 | g.6300836G>A | CA2839200 | WFS1 | c.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 |
4 | g.6300836G>C | CA438367901 | WFS1 | c.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=) | |
4 | g.6300836G= | CA1435772257 | WFS1 | c.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=) | |
4 | g.6300836G>T | CA438367900 | WFS1 | c.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=) | |
4 | g.6300837G>A | CA356174132 | WFS1 | c.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) | |
4 | g.6300837G>C | CA356174133 | WFS1 | c.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) | |
4 | g.6300837G>T | CA356174131 | WFS1 | c.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) | |
4 | g.6300838T>A | CA356174134 | WFS1 | c.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) | |
4 | g.6300838T>C | CA356174136 | WFS1 | c.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 |
4 | g.6300838T>G | CA356174135 | WFS1 | c.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) | |
4 | g.6300838T= | CA1435772259 | WFS1 | c.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=) | |
4 | g.6300844_6300861del | CA2669843418 | WFS1 | c.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 |
4 | g.6300839C>A | CA438367903 | WFS1 | c.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=) | |
4 | g.6300839C= | CA1435772261 | WFS1 | c.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=) | |
4 | g.6300839C>G | CA2839201 | WFS1 | c.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 |
4 | g.6300839C>T | CA438367904 | WFS1 | c.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 |
4 | g.6300840A= | CA1435772263 | WFS1 | c.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=) | |
4 | g.6300840A>C | CA356174138 | WFS1 | c.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) | |
4 | g.6300840A>G | CA356174137 | WFS1 | c.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 |
4 | g.6300840A>T | CA356174139 | WFS1 | c.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) | |
4 | g.6300840_6300843delinsATCT | CA1435772264 | WFS1 | c.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=) | |
4 | g.6300841T>A | CA356174140 | WFS1 | c.1082T>A (p.Ile361Asn) c.1023T>A c.1046T>A (p.Ile349Asn) c.797T>A (p.Ile266Asn) c.705T>A (p.His235Gln) c.679T>A n.1231T>A c.1055T>A (p.Ile352Asn) | |
4 | g.6300841T>C | CA356174141 | WFS1 | c.1082T>C (p.Ile361Thr) c.1023T>C c.1046T>C (p.Ile349Thr) c.797T>C (p.Ile266Thr) c.705T>C (p.His235=) c.679T>C n.1231T>C c.1055T>C (p.Ile352Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300841T>G | CA356174142 | WFS1 | c.1082T>G (p.Ile361Ser) c.1023T>G c.1046T>G (p.Ile349Ser) c.797T>G (p.Ile266Ser) c.705T>G (p.His235Gln) c.679T>G n.1231T>G c.1055T>G (p.Ile352Ser) | |
4 | g.6300841T= | CA1435772268 | WFS1 | c.1082T= (p.Ile361=) c.1023T= c.1046T= (p.Ile349=) c.797T= (p.Ile266=) c.705T= (p.His235=) c.679T= n.1231T= c.1055T= (p.Ile352=) | |
4 | g.6300841_6300842delinsAG | CA2586973606 | WFS1 | c.1082_1083delinsAG (p.Ile361Lys) c.1023_1024delinsAG c.1046_1047delinsAG (p.Ile349Lys) c.797_798delinsAG (p.Ile266Lys) c.705_706delinsAG (p.His235_Leu236delinsGlnVal) c.679_680delinsAG n.1231_1232delinsAG c.1055_1056delinsAG (p.Ile352Lys) | |
4 | g.6300844_6300846del | CA438367905 | WFS1 | c.1085_1087del (p.Phe362del) c.1026_1028del c.1049_1051del (p.Phe350del) c.800_802del (p.Phe267del) c.708_710del (p.Leu237del) c.682_684del n.1234_1236del c.1058_1060del (p.Phe353del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6300842C>A | CA438367907 | WFS1 | c.1083C>A (p.Ile361=) c.1024C>A c.1047C>A (p.Ile349=) c.798C>A (p.Ile266=) c.706C>A (p.Leu236Ile) c.680C>A n.1232C>A c.1056C>A (p.Ile352=) | |
4 | g.6300842C= | CA1435772270 | WFS1 | c.1083C= (p.Ile361=) c.1024C= c.1047C= (p.Ile349=) c.798C= (p.Ile266=) c.706C= (p.Leu236=) c.680C= n.1232C= c.1056C= (p.Ile352=) | |
4 | g.6300842C>G | CA356174143 | WFS1 | c.1083C>G (p.Ile361Met) c.1024C>G c.1047C>G (p.Ile349Met) c.798C>G (p.Ile266Met) c.706C>G (p.Leu236Val) c.680C>G n.1232C>G c.1056C>G (p.Ile352Met) | |
4 | g.6300842C>T | CA2839202 | WFS1 | c.1083C>T (p.Ile361=) c.1024C>T c.1047C>T (p.Ile349=) c.798C>T (p.Ile266=) c.706C>T (p.Leu236Phe) c.680C>T n.1232C>T c.1056C>T (p.Ile352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6300843T>A | CA356174144 | WFS1 | c.1084T>A (p.Phe362Ile) c.1025T>A c.1048T>A (p.Phe350Ile) c.799T>A (p.Phe267Ile) c.707T>A (p.Leu236His) c.681T>A n.1233T>A c.1057T>A (p.Phe353Ile) | dbSNP gnomAD v4 |
4 | g.6300843T>C | CA356174145 | WFS1 | c.1084T>C (p.Phe362Leu) c.1025T>C c.1048T>C (p.Phe350Leu) c.799T>C (p.Phe267Leu) c.707T>C (p.Leu236Pro) c.681T>C n.1233T>C c.1057T>C (p.Phe353Leu) | |
4 | g.6300843T>G | CA356174146 | WFS1 | c.1084T>G (p.Phe362Val) c.1025T>G c.1048T>G (p.Phe350Val) c.799T>G (p.Phe267Val) c.707T>G (p.Leu236Arg) c.681T>G n.1233T>G c.1057T>G (p.Phe353Val) | |
4 | g.6300843T= | CA1435772272 | WFS1 | c.1084T= (p.Phe362=) c.1025T= c.1048T= (p.Phe350=) c.799T= (p.Phe267=) c.707T= (p.Leu236=) c.681T= n.1233T= c.1057T= (p.Phe353=) |