Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.89695654A=CA1645564825MDN1n.422T=
c.9722T= (p.Phe3241=)
c.3707T= (p.Phe1236=)
c.4166T= (p.Phe1389=)
c.9431T= (p.Phe3144=)
n.9879T=
6g.89695654A>CCA364988264MDN1n.422T>G
c.9722T>G (p.Phe3241Cys)
c.3707T>G (p.Phe1236Cys)
c.4166T>G (p.Phe1389Cys)
c.9431T>G (p.Phe3144Cys)
n.9879T>G
6g.89695654A>GCA204094MDN1n.422T>C
c.9722T>C (p.Phe3241Ser)
c.3707T>C (p.Phe1236Ser)
c.4166T>C (p.Phe1389Ser)
c.9431T>C (p.Phe3144Ser)
n.9879T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.89695654A>TCA364988267MDN1n.422T>A
c.9722T>A (p.Phe3241Tyr)
c.3707T>A (p.Phe1236Tyr)
c.4166T>A (p.Phe1389Tyr)
c.9431T>A (p.Phe3144Tyr)
n.9879T>A
6g.89695655A>CCA364988269MDN1n.421T>G
c.9721T>G (p.Phe3241Val)
c.3706T>G (p.Phe1236Val)
c.4165T>G (p.Phe1389Val)
c.9430T>G (p.Phe3144Val)
n.9878T>G
6g.89695655A>GCA364988270MDN1n.421T>C
c.9721T>C (p.Phe3241Leu)
c.3706T>C (p.Phe1236Leu)
c.4165T>C (p.Phe1389Leu)
c.9430T>C (p.Phe3144Leu)
n.9878T>C
6g.89695655A>TCA364988272MDN1n.421T>A
c.9721T>A (p.Phe3241Ile)
c.3706T>A (p.Phe1236Ile)
c.4165T>A (p.Phe1389Ile)
c.9430T>A (p.Phe3144Ile)
n.9878T>A
6g.89695656G>ACA451182204MDN1n.420C>T
c.9720C>T (p.Arg3240=)
c.3705C>T (p.Arg1235=)
c.4164C>T (p.Arg1388=)
c.9429C>T (p.Arg3143=)
n.9877C>T
6g.89695656G>CCA451182205MDN1n.420C>G
c.9720C>G (p.Arg3240=)
c.3705C>G (p.Arg1235=)
c.4164C>G (p.Arg1388=)
c.9429C>G (p.Arg3143=)
n.9877C>G
6g.89695656G>TCA451182206MDN1n.420C>A
c.9720C>A (p.Arg3240=)
c.3705C>A (p.Arg1235=)
c.4164C>A (p.Arg1388=)
c.9429C>A (p.Arg3143=)
n.9877C>A
6g.89695657C>ACA364988276MDN1n.419G>T
c.9719G>T (p.Arg3240Leu)
c.3704G>T (p.Arg1235Leu)
c.4163G>T (p.Arg1388Leu)
c.9428G>T (p.Arg3143Leu)
n.9876G>T
 dbSNP gnomAD v4
6g.89695657C=CA1645564832MDN1n.419G=
c.9719G= (p.Arg3240=)
c.3704G= (p.Arg1235=)
c.4163G= (p.Arg1388=)
c.9428G= (p.Arg3143=)
n.9876G=
6g.89695657C>GCA364988275MDN1n.419G>C
c.9719G>C (p.Arg3240Pro)
c.3704G>C (p.Arg1235Pro)
c.4163G>C (p.Arg1388Pro)
c.9428G>C (p.Arg3143Pro)
n.9876G>C
6g.89695657C>TCA3923740MDN1n.419G>A
c.9719G>A (p.Arg3240His)
c.3704G>A (p.Arg1235His)
c.4163G>A (p.Arg1388His)
c.9428G>A (p.Arg3143His)
n.9876G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.89695658G>ACA3923741MDN1n.418C>T
c.9718C>T (p.Arg3240Cys)
c.3703C>T (p.Arg1235Cys)
c.4162C>T (p.Arg1388Cys)
c.9427C>T (p.Arg3143Cys)
n.9875C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.89695658G>CCA364988277MDN1n.418C>G
c.9718C>G (p.Arg3240Gly)
c.3703C>G (p.Arg1235Gly)
c.4162C>G (p.Arg1388Gly)
c.9427C>G (p.Arg3143Gly)
n.9875C>G
6g.89695658G=CA1645564835MDN1n.418C=
c.9718C= (p.Arg3240=)
c.3703C= (p.Arg1235=)
c.4162C= (p.Arg1388=)
c.9427C= (p.Arg3143=)
n.9875C=
6g.89695658G>TCA3923742MDN1n.418C>A
c.9718C>A (p.Arg3240Ser)
c.3703C>A (p.Arg1235Ser)
c.4162C>A (p.Arg1388Ser)
c.9427C>A (p.Arg3143Ser)
n.9875C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695659T>ACA451182209MDN1n.417A>T
c.9717A>T (p.Ala3239=)
c.3702A>T (p.Ala1234=)
c.4161A>T (p.Ala1387=)
c.9426A>T (p.Ala3142=)
n.9874A>T
6g.89695659T>CCA451182211MDN1n.417A>G
c.9717A>G (p.Ala3239=)
c.3702A>G (p.Ala1234=)
c.4161A>G (p.Ala1387=)
c.9426A>G (p.Ala3142=)
n.9874A>G
6g.89695659T>GCA451182212MDN1n.417A>C
c.9717A>C (p.Ala3239=)
c.3702A>C (p.Ala1234=)
c.4161A>C (p.Ala1387=)
c.9426A>C (p.Ala3142=)
n.9874A>C
6g.89695660G>ACA364988278MDN1n.416C>T
c.9716C>T (p.Ala3239Val)
c.3701C>T (p.Ala1234Val)
c.4160C>T (p.Ala1387Val)
c.9425C>T (p.Ala3142Val)
n.9873C>T
6g.89695660G>CCA364988280MDN1n.416C>G
c.9716C>G (p.Ala3239Gly)
c.3701C>G (p.Ala1234Gly)
c.4160C>G (p.Ala1387Gly)
c.9425C>G (p.Ala3142Gly)
n.9873C>G
6g.89695660G>TCA364988281MDN1n.416C>A
c.9716C>A (p.Ala3239Glu)
c.3701C>A (p.Ala1234Glu)
c.4160C>A (p.Ala1387Glu)
c.9425C>A (p.Ala3142Glu)
n.9873C>A
6g.89695661C>ACA364988283MDN1n.415G>T
c.9715G>T (p.Ala3239Ser)
c.3700G>T (p.Ala1234Ser)
c.4159G>T (p.Ala1387Ser)
c.9424G>T (p.Ala3142Ser)
n.9872G>T
6g.89695661C>GCA364988284MDN1n.415G>C
c.9715G>C (p.Ala3239Pro)
c.3700G>C (p.Ala1234Pro)
c.4159G>C (p.Ala1387Pro)
c.9424G>C (p.Ala3142Pro)
n.9872G>C
 gnomAD v4
6g.89695661C>TCA364988286MDN1n.415G>A
c.9715G>A (p.Ala3239Thr)
c.3700G>A (p.Ala1234Thr)
c.4159G>A (p.Ala1387Thr)
c.9424G>A (p.Ala3142Thr)
n.9872G>A
 gnomAD v4
6g.89695662C>ACA364988289MDN1n.414G>T
c.9714G>T (p.Gln3238His)
c.3699G>T (p.Gln1233His)
c.4158G>T (p.Gln1386His)
c.9423G>T (p.Gln3141His)
n.9871G>T
6g.89695662C>GCA364988291MDN1n.414G>C
c.9714G>C (p.Gln3238His)
c.3699G>C (p.Gln1233His)
c.4158G>C (p.Gln1386His)
c.9423G>C (p.Gln3141His)
n.9871G>C
6g.89695662C>TCA451182213MDN1n.414G>A
c.9714G>A (p.Gln3238=)
c.3699G>A (p.Gln1233=)
c.4158G>A (p.Gln1386=)
c.9423G>A (p.Gln3141=)
n.9871G>A
6g.89695663T>ACA364988297MDN1n.413A>T
c.9713A>T (p.Gln3238Leu)
c.3698A>T (p.Gln1233Leu)
c.4157A>T (p.Gln1386Leu)
c.9422A>T (p.Gln3141Leu)
n.9870A>T
6g.89695663T>CCA364988295MDN1n.413A>G
c.9713A>G (p.Gln3238Arg)
c.3698A>G (p.Gln1233Arg)
c.4157A>G (p.Gln1386Arg)
c.9422A>G (p.Gln3141Arg)
n.9870A>G
6g.89695663T>GCA364988294MDN1n.413A>C
c.9713A>C (p.Gln3238Pro)
c.3698A>C (p.Gln1233Pro)
c.4157A>C (p.Gln1386Pro)
c.9422A>C (p.Gln3141Pro)
n.9870A>C
6g.89695664G>ACA364988300MDN1n.412C>T
c.9712C>T (p.Gln3238Ter)
c.3697C>T (p.Gln1233Ter)
c.4156C>T (p.Gln1386Ter)
c.9421C>T (p.Gln3141Ter)
n.9869C>T
 gnomAD v4
6g.89695664G>CCA364988302MDN1n.412C>G
c.9712C>G (p.Gln3238Glu)
c.3697C>G (p.Gln1233Glu)
c.4156C>G (p.Gln1386Glu)
c.9421C>G (p.Gln3141Glu)
n.9869C>G
6g.89695664G>TCA364988305MDN1n.412C>A
c.9712C>A (p.Gln3238Lys)
c.3697C>A (p.Gln1233Lys)
c.4156C>A (p.Gln1386Lys)
c.9421C>A (p.Gln3141Lys)
n.9869C>A
6g.89695665G>ACA451182217MDN1n.411C>T
c.9711C>T (p.Pro3237=)
c.3696C>T (p.Pro1232=)
c.4155C>T (p.Pro1385=)
c.9420C>T (p.Pro3140=)
n.9868C>T
6g.89695665G>CCA451182218MDN1n.411C>G
c.9711C>G (p.Pro3237=)
c.3696C>G (p.Pro1232=)
c.4155C>G (p.Pro1385=)
c.9420C>G (p.Pro3140=)
n.9868C>G
6g.89695665G>TCA451182219MDN1n.411C>A
c.9711C>A (p.Pro3237=)
c.3696C>A (p.Pro1232=)
c.4155C>A (p.Pro1385=)
c.9420C>A (p.Pro3140=)
n.9868C>A
6g.89695666G>ACA364988306MDN1n.410C>T
c.9710C>T (p.Pro3237Leu)
c.3695C>T (p.Pro1232Leu)
c.4154C>T (p.Pro1385Leu)
c.9419C>T (p.Pro3140Leu)
n.9867C>T
6g.89695666G>CCA364988308MDN1n.410C>G
c.9710C>G (p.Pro3237Arg)
c.3695C>G (p.Pro1232Arg)
c.4154C>G (p.Pro1385Arg)
c.9419C>G (p.Pro3140Arg)
n.9867C>G
6g.89695666G>TCA364988312MDN1n.410C>A
c.9710C>A (p.Pro3237His)
c.3695C>A (p.Pro1232His)
c.4154C>A (p.Pro1385His)
c.9419C>A (p.Pro3140His)
n.9867C>A
6g.89695667G>ACA3923743MDN1n.409C>T
c.9709C>T (p.Pro3237Ser)
c.3694C>T (p.Pro1232Ser)
c.4153C>T (p.Pro1385Ser)
c.9418C>T (p.Pro3140Ser)
n.9866C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695667G>CCA364988314MDN1n.409C>G
c.9709C>G (p.Pro3237Ala)
c.3694C>G (p.Pro1232Ala)
c.4153C>G (p.Pro1385Ala)
c.9418C>G (p.Pro3140Ala)
n.9866C>G
6g.89695667G=CA1645564837MDN1n.409C=
c.9709C= (p.Pro3237=)
c.3694C= (p.Pro1232=)
c.4153C= (p.Pro1385=)
c.9418C= (p.Pro3140=)
n.9866C=
6g.89695667G>TCA364988315MDN1n.409C>A
c.9709C>A (p.Pro3237Thr)
c.3694C>A (p.Pro1232Thr)
c.4153C>A (p.Pro1385Thr)
c.9418C>A (p.Pro3140Thr)
n.9866C>A
6g.89695668A>CCA451182220MDN1n.408T>G
c.9708T>G (p.Leu3236=)
c.3693T>G (p.Leu1231=)
c.4152T>G (p.Leu1384=)
c.9417T>G (p.Leu3139=)
n.9865T>G
6g.89695668A>GCA451182223MDN1n.408T>C
c.9708T>C (p.Leu3236=)
c.3693T>C (p.Leu1231=)
c.4152T>C (p.Leu1384=)
c.9417T>C (p.Leu3139=)
n.9865T>C
6g.89695668A>TCA451182221MDN1n.408T>A
c.9708T>A (p.Leu3236=)
c.3693T>A (p.Leu1231=)
c.4152T>A (p.Leu1384=)
c.9417T>A (p.Leu3139=)
n.9865T>A
6g.89695669A>CCA364988320MDN1n.407T>G
c.9707T>G (p.Leu3236Arg)
c.3692T>G (p.Leu1231Arg)
c.4151T>G (p.Leu1384Arg)
c.9416T>G (p.Leu3139Arg)
n.9864T>G
6g.89695669A>GCA364988322MDN1n.407T>C
c.9707T>C (p.Leu3236Pro)
c.3692T>C (p.Leu1231Pro)
c.4151T>C (p.Leu1384Pro)
c.9416T>C (p.Leu3139Pro)
n.9864T>C
6g.89695669A>TCA364988324MDN1n.407T>A
c.9707T>A (p.Leu3236His)
c.3692T>A (p.Leu1231His)
c.4151T>A (p.Leu1384His)
c.9416T>A (p.Leu3139His)
n.9864T>A
6g.89695670G>ACA364988328MDN1n.406C>T
c.9706C>T (p.Leu3236Phe)
c.3691C>T (p.Leu1231Phe)
c.4150C>T (p.Leu1384Phe)
c.9415C>T (p.Leu3139Phe)
n.9863C>T
 gnomAD v4
6g.89695670G>CCA364988331MDN1n.406C>G
c.9706C>G (p.Leu3236Val)
c.3691C>G (p.Leu1231Val)
c.4150C>G (p.Leu1384Val)
c.9415C>G (p.Leu3139Val)
n.9863C>G
6g.89695670G>TCA364988326MDN1n.406C>A
c.9706C>A (p.Leu3236Ile)
c.3691C>A (p.Leu1231Ile)
c.4150C>A (p.Leu1384Ile)
c.9415C>A (p.Leu3139Ile)
n.9863C>A
6g.89695671C>ACA364988337MDN1n.405G>T
c.9705G>T (p.Trp3235Cys)
c.3690G>T (p.Trp1230Cys)
c.4149G>T (p.Trp1383Cys)
c.9414G>T (p.Trp3138Cys)
n.9862G>T
6g.89695671C>GCA364988333MDN1n.405G>C
c.9705G>C (p.Trp3235Cys)
c.3690G>C (p.Trp1230Cys)
c.4149G>C (p.Trp1383Cys)
c.9414G>C (p.Trp3138Cys)
n.9862G>C
6g.89695671C>TCA364988335MDN1n.405G>A
c.9705G>A (p.Trp3235Ter)
c.3690G>A (p.Trp1230Ter)
c.4149G>A (p.Trp1383Ter)
c.9414G>A (p.Trp3138Ter)
n.9862G>A
6g.89695672C>ACA364988340MDN1n.404G>T
c.9704G>T (p.Trp3235Leu)
c.3689G>T (p.Trp1230Leu)
c.4148G>T (p.Trp1383Leu)
c.9413G>T (p.Trp3138Leu)
n.9861G>T
6g.89695672C>GCA364988343MDN1n.404G>C
c.9704G>C (p.Trp3235Ser)
c.3689G>C (p.Trp1230Ser)
c.4148G>C (p.Trp1383Ser)
c.9413G>C (p.Trp3138Ser)
n.9861G>C
6g.89695672C>TCA364988347MDN1n.404G>A
c.9704G>A (p.Trp3235Ter)
c.3689G>A (p.Trp1230Ter)
c.4148G>A (p.Trp1383Ter)
c.9413G>A (p.Trp3138Ter)
n.9861G>A
6g.89695673A>CCA364988349MDN1n.403T>G
c.9703T>G (p.Trp3235Gly)
c.3688T>G (p.Trp1230Gly)
c.4147T>G (p.Trp1383Gly)
c.9412T>G (p.Trp3138Gly)
n.9860T>G
6g.89695673A>GCA364988352MDN1n.403T>C
c.9703T>C (p.Trp3235Arg)
c.3688T>C (p.Trp1230Arg)
c.4147T>C (p.Trp1383Arg)
c.9412T>C (p.Trp3138Arg)
n.9860T>C
6g.89695673A>TCA364988354MDN1n.403T>A
c.9703T>A (p.Trp3235Arg)
c.3688T>A (p.Trp1230Arg)
c.4147T>A (p.Trp1383Arg)
c.9412T>A (p.Trp3138Arg)
n.9860T>A
6g.89695674T>ACA451182226MDN1n.402A>T
c.9702A>T (p.Thr3234=)
c.3687A>T (p.Thr1229=)
c.4146A>T (p.Thr1382=)
c.9411A>T (p.Thr3137=)
n.9859A>T
6g.89695674T>CCA451182228MDN1n.402A>G
c.9702A>G (p.Thr3234=)
c.3687A>G (p.Thr1229=)
c.4146A>G (p.Thr1382=)
c.9411A>G (p.Thr3137=)
n.9859A>G
 gnomAD v4
6g.89695674T>GCA451182229MDN1n.402A>C
c.9702A>C (p.Thr3234=)
c.3687A>C (p.Thr1229=)
c.4146A>C (p.Thr1382=)
c.9411A>C (p.Thr3137=)
n.9859A>C
6g.89695675G>ACA364988356MDN1n.401C>T
c.9701C>T (p.Thr3234Ile)
c.3686C>T (p.Thr1229Ile)
c.4145C>T (p.Thr1382Ile)
c.9410C>T (p.Thr3137Ile)
n.9858C>T
 gnomAD v4
6g.89695675G>CCA364988357MDN1n.401C>G
c.9701C>G (p.Thr3234Arg)
c.3686C>G (p.Thr1229Arg)
c.4145C>G (p.Thr1382Arg)
c.9410C>G (p.Thr3137Arg)
n.9858C>G
6g.89695675G>TCA364988359MDN1n.401C>A
c.9701C>A (p.Thr3234Lys)
c.3686C>A (p.Thr1229Lys)
c.4145C>A (p.Thr1382Lys)
c.9410C>A (p.Thr3137Lys)
n.9858C>A
6g.89695676T>ACA364988368MDN1n.400A>T
c.9700A>T (p.Thr3234Ser)
c.3685A>T (p.Thr1229Ser)
c.4144A>T (p.Thr1382Ser)
c.9409A>T (p.Thr3137Ser)
n.9857A>T
6g.89695676T>CCA3923744MDN1n.400A>G
c.9700A>G (p.Thr3234Ala)
c.3685A>G (p.Thr1229Ala)
c.4144A>G (p.Thr1382Ala)
c.9409A>G (p.Thr3137Ala)
n.9857A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695676T>GCA364988363MDN1n.400A>C
c.9700A>C (p.Thr3234Pro)
c.3685A>C (p.Thr1229Pro)
c.4144A>C (p.Thr1382Pro)
c.9409A>C (p.Thr3137Pro)
n.9857A>C
6g.89695676T=CA1645564839MDN1n.400A=
c.9700A= (p.Thr3234=)
c.3685A= (p.Thr1229=)
c.4144A= (p.Thr1382=)
c.9409A= (p.Thr3137=)
n.9857A=
6g.89695677C>ACA364988371MDN1n.399G>T
c.9699G>T (p.Gln3233His)
c.3684G>T (p.Gln1228His)
c.4143G>T (p.Gln1381His)
c.9408G>T (p.Gln3136His)
n.9856G>T
 dbSNP gnomAD v2
6g.89695677C=CA1645564841MDN1n.399G=
c.9699G= (p.Gln3233=)
c.3684G= (p.Gln1228=)
c.4143G= (p.Gln1381=)
c.9408G= (p.Gln3136=)
n.9856G=
6g.89695677C>GCA364988374MDN1n.399G>C
c.9699G>C (p.Gln3233His)
c.3684G>C (p.Gln1228His)
c.4143G>C (p.Gln1381His)
c.9408G>C (p.Gln3136His)
n.9856G>C
6g.89695677C>TCA451182231MDN1n.399G>A
c.9699G>A (p.Gln3233=)
c.3684G>A (p.Gln1228=)
c.4143G>A (p.Gln1381=)
c.9408G>A (p.Gln3136=)
n.9856G>A
6g.89695678T>ACA364988377MDN1n.398A>T
c.9698A>T (p.Gln3233Leu)
c.3683A>T (p.Gln1228Leu)
c.4142A>T (p.Gln1381Leu)
c.9407A>T (p.Gln3136Leu)
n.9855A>T
6g.89695678T>CCA364988379MDN1n.398A>G
c.9698A>G (p.Gln3233Arg)
c.3683A>G (p.Gln1228Arg)
c.4142A>G (p.Gln1381Arg)
c.9407A>G (p.Gln3136Arg)
n.9855A>G
6g.89695678T>GCA364988382MDN1n.398A>C
c.9698A>C (p.Gln3233Pro)
c.3683A>C (p.Gln1228Pro)
c.4142A>C (p.Gln1381Pro)
c.9407A>C (p.Gln3136Pro)
n.9855A>C
6g.89695679G>ACA364988386MDN1n.397C>T
c.9697C>T (p.Gln3233Ter)
c.3682C>T (p.Gln1228Ter)
c.4141C>T (p.Gln1381Ter)
c.9406C>T (p.Gln3136Ter)
n.9854C>T
6g.89695679G>CCA364988387MDN1n.397C>G
c.9697C>G (p.Gln3233Glu)
c.3682C>G (p.Gln1228Glu)
c.4141C>G (p.Gln1381Glu)
c.9406C>G (p.Gln3136Glu)
n.9854C>G
6g.89695679G>TCA364988388MDN1n.397C>A
c.9697C>A (p.Gln3233Lys)
c.3682C>A (p.Gln1228Lys)
c.4141C>A (p.Gln1381Lys)
c.9406C>A (p.Gln3136Lys)
n.9854C>A
6g.89695679_89695680insTTTTAGAGCA2540089174MDN1n.397_398insTCTAAAAC
c.9697_9698insTCTAAAAC (p.Gln3233LeufsTer2)
c.3682_3683insTCTAAAAC (p.Gln1228LeufsTer2)
c.4141_4142insTCTAAAAC (p.Gln1381LeufsTer2)
c.9406_9407insTCTAAAAC (p.Gln3136LeufsTer2)
n.9854_9855insTCTAAAAC
6g.89695680A>CCA364988390MDN1n.396T>G
c.9696T>G (p.Ile3232Met)
c.3681T>G (p.Ile1227Met)
c.4140T>G (p.Ile1380Met)
c.9405T>G (p.Ile3135Met)
n.9853T>G
6g.89695680A>GCA451182236MDN1n.396T>C
c.9696T>C (p.Ile3232=)
c.3681T>C (p.Ile1227=)
c.4140T>C (p.Ile1380=)
c.9405T>C (p.Ile3135=)
n.9853T>C
6g.89695680A>TCA451182235MDN1n.396T>A
c.9696T>A (p.Ile3232=)
c.3681T>A (p.Ile1227=)
c.4140T>A (p.Ile1380=)
c.9405T>A (p.Ile3135=)
n.9853T>A
6g.89695681delCA2772101471MDN1n.396del
c.9696del (p.Gln3233ArgfsTer13)
c.3681del (p.Gln1228ArgfsTer13)
c.4140del (p.Gln1381ArgfsTer13)
c.9405del (p.Gln3136ArgfsTer13)
n.9853del
6g.89695681A>CCA364988393MDN1n.395T>G
c.9695T>G (p.Ile3232Ser)
c.3680T>G (p.Ile1227Ser)
c.4139T>G (p.Ile1380Ser)
c.9404T>G (p.Ile3135Ser)
n.9852T>G
6g.89695681A>GCA364988395MDN1n.395T>C
c.9695T>C (p.Ile3232Thr)
c.3680T>C (p.Ile1227Thr)
c.4139T>C (p.Ile1380Thr)
c.9404T>C (p.Ile3135Thr)
n.9852T>C
6g.89695681A>TCA364988397MDN1n.395T>A
c.9695T>A (p.Ile3232Asn)
c.3680T>A (p.Ile1227Asn)
c.4139T>A (p.Ile1380Asn)
c.9404T>A (p.Ile3135Asn)
n.9852T>A
6g.89695682T>ACA364988402MDN1n.394A>T
c.9694A>T (p.Ile3232Phe)
c.3679A>T (p.Ile1227Phe)
c.4138A>T (p.Ile1380Phe)
c.9403A>T (p.Ile3135Phe)
n.9851A>T
 gnomAD v4
6g.89695682T>CCA364988404MDN1n.394A>G
c.9694A>G (p.Ile3232Val)
c.3679A>G (p.Ile1227Val)
c.4138A>G (p.Ile1380Val)
c.9403A>G (p.Ile3135Val)
n.9851A>G
 dbSNP
6g.89695682T>GCA364988399MDN1n.394A>C
c.9694A>C (p.Ile3232Leu)
c.3679A>C (p.Ile1227Leu)
c.4138A>C (p.Ile1380Leu)
c.9403A>C (p.Ile3135Leu)
n.9851A>C
6g.89695682T=CA1645564846MDN1n.394A=
c.9694A= (p.Ile3232=)
c.3679A= (p.Ile1227=)
c.4138A= (p.Ile1380=)
c.9403A= (p.Ile3135=)
n.9851A=
6g.89695683C>ACA364988405MDN1n.393G>T
c.9693G>T (p.Gln3231His)
c.3678G>T (p.Gln1226His)
c.4137G>T (p.Gln1379His)
c.9402G>T (p.Gln3134His)
n.9850G>T
6g.89695683C=CA1645564850MDN1n.393G=
c.9693G= (p.Gln3231=)
c.3678G= (p.Gln1226=)
c.4137G= (p.Gln1379=)
c.9402G= (p.Gln3134=)
n.9850G=
6g.89695683C>GCA364988407MDN1n.393G>C
c.9693G>C (p.Gln3231His)
c.3678G>C (p.Gln1226His)
c.4137G>C (p.Gln1379His)
c.9402G>C (p.Gln3134His)
n.9850G>C
 dbSNP gnomAD v2 gnomAD v4
6g.89695683C>TCA451182240MDN1n.393G>A
c.9693G>A (p.Gln3231=)
c.3678G>A (p.Gln1226=)
c.4137G>A (p.Gln1379=)
c.9402G>A (p.Gln3134=)
n.9850G>A
 dbSNP gnomAD v3 gnomAD v4
6g.89695684T>ACA364988409MDN1n.392A>T
c.9692A>T (p.Gln3231Leu)
c.3677A>T (p.Gln1226Leu)
c.4136A>T (p.Gln1379Leu)
c.9401A>T (p.Gln3134Leu)
n.9849A>T
6g.89695684T>CCA364988412MDN1n.392A>G
c.9692A>G (p.Gln3231Arg)
c.3677A>G (p.Gln1226Arg)
c.4136A>G (p.Gln1379Arg)
c.9401A>G (p.Gln3134Arg)
n.9849A>G
 gnomAD v4
6g.89695684T>GCA364988416MDN1n.392A>C
c.9692A>C (p.Gln3231Pro)
c.3677A>C (p.Gln1226Pro)
c.4136A>C (p.Gln1379Pro)
c.9401A>C (p.Gln3134Pro)
n.9849A>C
6g.89695685G>ACA364988424MDN1n.391C>T
c.9691C>T (p.Gln3231Ter)
c.3676C>T (p.Gln1226Ter)
c.4135C>T (p.Gln1379Ter)
c.9400C>T (p.Gln3134Ter)
n.9848C>T
 gnomAD v4
6g.89695685G>CCA364988422MDN1n.391C>G
c.9691C>G (p.Gln3231Glu)
c.3676C>G (p.Gln1226Glu)
c.4135C>G (p.Gln1379Glu)
c.9400C>G (p.Gln3134Glu)
n.9848C>G
6g.89695685G>TCA364988419MDN1n.391C>A
c.9691C>A (p.Gln3231Lys)
c.3676C>A (p.Gln1226Lys)
c.4135C>A (p.Gln1379Lys)
c.9400C>A (p.Gln3134Lys)
n.9848C>A
6g.89695686G>ACA451182244MDN1n.390C>T
c.9690C>T (p.Leu3230=)
c.3675C>T (p.Leu1225=)
c.4134C>T (p.Leu1378=)
c.9399C>T (p.Leu3133=)
n.9847C>T
6g.89695686G>CCA451182246MDN1n.390C>G
c.9690C>G (p.Leu3230=)
c.3675C>G (p.Leu1225=)
c.4134C>G (p.Leu1378=)
c.9399C>G (p.Leu3133=)
n.9847C>G
 gnomAD v4
6g.89695686G>TCA451182245MDN1n.390C>A
c.9690C>A (p.Leu3230=)
c.3675C>A (p.Leu1225=)
c.4134C>A (p.Leu1378=)
c.9399C>A (p.Leu3133=)
n.9847C>A
6g.89695687A>CCA364988425MDN1n.389T>G
c.9689T>G (p.Leu3230Arg)
c.3674T>G (p.Leu1225Arg)
c.4133T>G (p.Leu1378Arg)
c.9398T>G (p.Leu3133Arg)
n.9846T>G
6g.89695687A>GCA364988428MDN1n.389T>C
c.9689T>C (p.Leu3230Pro)
c.3674T>C (p.Leu1225Pro)
c.4133T>C (p.Leu1378Pro)
c.9398T>C (p.Leu3133Pro)
n.9846T>C
6g.89695687A>TCA364988430MDN1n.389T>A
c.9689T>A (p.Leu3230His)
c.3674T>A (p.Leu1225His)
c.4133T>A (p.Leu1378His)
c.9398T>A (p.Leu3133His)
n.9846T>A
6g.89695688G>ACA364988432MDN1n.388C>T
c.9688C>T (p.Leu3230Phe)
c.3673C>T (p.Leu1225Phe)
c.4132C>T (p.Leu1378Phe)
c.9397C>T (p.Leu3133Phe)
n.9845C>T
 dbSNP gnomAD v2 gnomAD v4
6g.89695688G>CCA364988435MDN1n.388C>G
c.9688C>G (p.Leu3230Val)
c.3673C>G (p.Leu1225Val)
c.4132C>G (p.Leu1378Val)
c.9397C>G (p.Leu3133Val)
n.9845C>G
6g.89695688G=CA1645564852MDN1n.388C=
c.9688C= (p.Leu3230=)
c.3673C= (p.Leu1225=)
c.4132C= (p.Leu1378=)
c.9397C= (p.Leu3133=)
n.9845C=
6g.89695688G>TCA364988437MDN1n.388C>A
c.9688C>A (p.Leu3230Ile)
c.3673C>A (p.Leu1225Ile)
c.4132C>A (p.Leu1378Ile)
c.9397C>A (p.Leu3133Ile)
n.9845C>A
6g.89695689C>ACA364988440MDN1n.387G>T
c.9687G>T (p.Leu3229Phe)
c.3672G>T (p.Leu1224Phe)
c.4131G>T (p.Leu1377Phe)
c.9396G>T (p.Leu3132Phe)
n.9844G>T
6g.89695689C=CA1645564854MDN1n.387G=
c.9687G= (p.Leu3229=)
c.3672G= (p.Leu1224=)
c.4131G= (p.Leu1377=)
c.9396G= (p.Leu3132=)
n.9844G=
6g.89695689C>GCA364988443MDN1n.387G>C
c.9687G>C (p.Leu3229Phe)
c.3672G>C (p.Leu1224Phe)
c.4131G>C (p.Leu1377Phe)
c.9396G>C (p.Leu3132Phe)
n.9844G>C
6g.89695689C>TCA3923745MDN1n.387G>A
c.9687G>A (p.Leu3229=)
c.3672G>A (p.Leu1224=)
c.4131G>A (p.Leu1377=)
c.9396G>A (p.Leu3132=)
n.9844G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.89695690A>CCA364988447MDN1n.386T>G
c.9686T>G (p.Leu3229Trp)
c.3671T>G (p.Leu1224Trp)
c.4130T>G (p.Leu1377Trp)
c.9395T>G (p.Leu3132Trp)
n.9843T>G
6g.89695690A>GCA364988450MDN1n.386T>C
c.9686T>C (p.Leu3229Ser)
c.3671T>C (p.Leu1224Ser)
c.4130T>C (p.Leu1377Ser)
c.9395T>C (p.Leu3132Ser)
n.9843T>C
6g.89695690A>TCA364988453MDN1n.386T>A
c.9686T>A (p.Leu3229Ter)
c.3671T>A (p.Leu1224Ter)
c.4130T>A (p.Leu1377Ter)
c.9395T>A (p.Leu3132Ter)
n.9843T>A
6g.89695691delCA2679685355MDN1n.386del
c.9686del (p.Leu3229CysfsTer17)
c.3671del (p.Leu1224CysfsTer17)
c.4130del (p.Leu1377CysfsTer17)
c.9395del (p.Leu3132CysfsTer17)
n.9843del
 gnomAD v4
6g.89695691A>CCA364988460MDN1n.385T>G
c.9685T>G (p.Leu3229Val)
c.3670T>G (p.Leu1224Val)
c.4129T>G (p.Leu1377Val)
c.9394T>G (p.Leu3132Val)
n.9842T>G
6g.89695691A>GCA451182247MDN1n.385T>C
c.9685T>C (p.Leu3229=)
c.3670T>C (p.Leu1224=)
c.4129T>C (p.Leu1377=)
c.9394T>C (p.Leu3132=)
n.9842T>C
6g.89695691A>TCA364988461MDN1n.385T>A
c.9685T>A (p.Leu3229Met)
c.3670T>A (p.Leu1224Met)
c.4129T>A (p.Leu1377Met)
c.9394T>A (p.Leu3132Met)
n.9842T>A
6g.89695692G>ACA451349942MDN1n.384C>T
c.9684C>T (p.Gly3228=)
c.3669C>T (p.Gly1223=)
c.4128C>T (p.Gly1376=)
c.9393C>T (p.Gly3131=)
n.9841C>T
6g.89695692G>CCA451349944MDN1n.384C>G
c.9684C>G (p.Gly3228=)
c.3669C>G (p.Gly1223=)
c.4128C>G (p.Gly1376=)
c.9393C>G (p.Gly3131=)
n.9841C>G
6g.89695692G>TCA451349945MDN1n.384C>A
c.9684C>A (p.Gly3228=)
c.3669C>A (p.Gly1223=)
c.4128C>A (p.Gly1376=)
c.9393C>A (p.Gly3131=)
n.9841C>A
6g.89695693C>ACA364989201MDN1n.383G>T
c.9683G>T (p.Gly3228Val)
c.3668G>T (p.Gly1223Val)
c.4127G>T (p.Gly1376Val)
c.9392G>T (p.Gly3131Val)
n.9840G>T
6g.89695693C=CA1645564856MDN1n.383G=
c.9683G= (p.Gly3228=)
c.3668G= (p.Gly1223=)
c.4127G= (p.Gly1376=)
c.9392G= (p.Gly3131=)
n.9840G=
6g.89695693C>GCA364989204MDN1n.383G>C
c.9683G>C (p.Gly3228Ala)
c.3668G>C (p.Gly1223Ala)
c.4127G>C (p.Gly1376Ala)
c.9392G>C (p.Gly3131Ala)
n.9840G>C
 dbSNP
6g.89695693C>TCA364989205MDN1n.383G>A
c.9683G>A (p.Gly3228Asp)
c.3668G>A (p.Gly1223Asp)
c.4127G>A (p.Gly1376Asp)
c.9392G>A (p.Gly3131Asp)
n.9840G>A
6g.89695694C>ACA364989206MDN1n.382G>T
c.9682G>T (p.Gly3228Cys)
c.3667G>T (p.Gly1223Cys)
c.4126G>T (p.Gly1376Cys)
c.9391G>T (p.Gly3131Cys)
n.9839G>T
6g.89695694C=CA1645564858MDN1n.382G=
c.9682G= (p.Gly3228=)
c.3667G= (p.Gly1223=)
c.4126G= (p.Gly1376=)
c.9391G= (p.Gly3131=)
n.9839G=
6g.89695694C>GCA364989208MDN1n.382G>C
c.9682G>C (p.Gly3228Arg)
c.3667G>C (p.Gly1223Arg)
c.4126G>C (p.Gly1376Arg)
c.9391G>C (p.Gly3131Arg)
n.9839G>C
6g.89695694C>TCA3923746MDN1n.382G>A
c.9682G>A (p.Gly3228Ser)
c.3667G>A (p.Gly1223Ser)
c.4126G>A (p.Gly1376Ser)
c.9391G>A (p.Gly3131Ser)
n.9839G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.89695695G>ACA3923747MDN1n.381C>T
c.9681C>T (p.Leu3227=)
c.3666C>T (p.Leu1222=)
c.4125C>T (p.Leu1375=)
c.9390C>T (p.Leu3130=)
n.9838C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.89695695G>CCA451349946MDN1n.381C>G
c.9681C>G (p.Leu3227=)
c.3666C>G (p.Leu1222=)
c.4125C>G (p.Leu1375=)
c.9390C>G (p.Leu3130=)
n.9838C>G
6g.89695695G=CA1645564861MDN1n.381C=
c.9681C= (p.Leu3227=)
c.3666C= (p.Leu1222=)
c.4125C= (p.Leu1375=)
c.9390C= (p.Leu3130=)
n.9838C=
6g.89695695G>TCA451349948MDN1n.381C>A
c.9681C>A (p.Leu3227=)
c.3666C>A (p.Leu1222=)
c.4125C>A (p.Leu1375=)
c.9390C>A (p.Leu3130=)
n.9838C>A
6g.89695696A>CCA364989213MDN1n.380T>G
c.9680T>G (p.Leu3227Arg)
c.3665T>G (p.Leu1222Arg)
c.4124T>G (p.Leu1375Arg)
c.9389T>G (p.Leu3130Arg)
n.9837T>G
6g.89695696A>GCA364989215MDN1n.380T>C
c.9680T>C (p.Leu3227Pro)
c.3665T>C (p.Leu1222Pro)
c.4124T>C (p.Leu1375Pro)
c.9389T>C (p.Leu3130Pro)
n.9837T>C
6g.89695696A>TCA364989211MDN1n.380T>A
c.9680T>A (p.Leu3227His)
c.3665T>A (p.Leu1222His)
c.4124T>A (p.Leu1375His)
c.9389T>A (p.Leu3130His)
n.9837T>A
6g.89695697G>ACA364989219MDN1n.379C>T
c.9679C>T (p.Leu3227Phe)
c.3664C>T (p.Leu1222Phe)
c.4123C>T (p.Leu1375Phe)
c.9388C>T (p.Leu3130Phe)
n.9836C>T
6g.89695697G>CCA364989217MDN1n.379C>G
c.9679C>G (p.Leu3227Val)
c.3664C>G (p.Leu1222Val)
c.4123C>G (p.Leu1375Val)
c.9388C>G (p.Leu3130Val)
n.9836C>G
 dbSNP gnomAD v2 gnomAD v4
6g.89695697G=CA1645564866MDN1n.379C=
c.9679C= (p.Leu3227=)
c.3664C= (p.Leu1222=)
c.4123C= (p.Leu1375=)
c.9388C= (p.Leu3130=)
n.9836C=
6g.89695697G>TCA364989221MDN1n.379C>A
c.9679C>A (p.Leu3227Ile)
c.3664C>A (p.Leu1222Ile)
c.4123C>A (p.Leu1375Ile)
c.9388C>A (p.Leu3130Ile)
n.9836C>A
6g.89695698G>ACA451349950MDN1n.378C>T
c.9678C>T (p.Ser3226=)
c.3663C>T (p.Ser1221=)
c.4122C>T (p.Ser1374=)
c.9387C>T (p.Ser3129=)
n.9835C>T
6g.89695698G>CCA364989223MDN1n.378C>G
c.9678C>G (p.Ser3226Arg)
c.3663C>G (p.Ser1221Arg)
c.4122C>G (p.Ser1374Arg)
c.9387C>G (p.Ser3129Arg)
n.9835C>G
 gnomAD v4
6g.89695698G>TCA364989225MDN1n.378C>A
c.9678C>A (p.Ser3226Arg)
c.3663C>A (p.Ser1221Arg)
c.4122C>A (p.Ser1374Arg)
c.9387C>A (p.Ser3129Arg)
n.9835C>A
6g.89695699C>ACA364989227MDN1n.377G>T
c.9677G>T (p.Ser3226Ile)
c.3662G>T (p.Ser1221Ile)
c.4121G>T (p.Ser1374Ile)
c.9386G>T (p.Ser3129Ile)
n.9834G>T
6g.89695699C=CA1645564870MDN1n.377G=
c.9677G= (p.Ser3226=)
c.3662G= (p.Ser1221=)
c.4121G= (p.Ser1374=)
c.9386G= (p.Ser3129=)
n.9834G=
6g.89695699C>GCA364989229MDN1n.377G>C
c.9677G>C (p.Ser3226Thr)
c.3662G>C (p.Ser1221Thr)
c.4121G>C (p.Ser1374Thr)
c.9386G>C (p.Ser3129Thr)
n.9834G>C
 dbSNP
6g.89695699C>TCA364989231MDN1n.377G>A
c.9677G>A (p.Ser3226Asn)
c.3662G>A (p.Ser1221Asn)
c.4121G>A (p.Ser1374Asn)
c.9386G>A (p.Ser3129Asn)
n.9834G>A
6g.89695700T>ACA364989232MDN1n.376A>T
c.9676A>T (p.Ser3226Cys)
c.3661A>T (p.Ser1221Cys)
c.4120A>T (p.Ser1374Cys)
c.9385A>T (p.Ser3129Cys)
n.9833A>T
6g.89695700T>CCA364989233MDN1n.376A>G
c.9676A>G (p.Ser3226Gly)
c.3661A>G (p.Ser1221Gly)
c.4120A>G (p.Ser1374Gly)
c.9385A>G (p.Ser3129Gly)
n.9833A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.89695700T>GCA364989234MDN1n.376A>C
c.9676A>C (p.Ser3226Arg)
c.3661A>C (p.Ser1221Arg)
c.4120A>C (p.Ser1374Arg)
c.9385A>C (p.Ser3129Arg)
n.9833A>C
6g.89695700T=CA1645564874MDN1n.376A=
c.9676A= (p.Ser3226=)
c.3661A= (p.Ser1221=)
c.4120A= (p.Ser1374=)
c.9385A= (p.Ser3129=)
n.9833A=
6g.89695701C>ACA451349952MDN1n.375G>T
c.9675G>T (p.Val3225=)
c.3660G>T (p.Val1220=)
c.4119G>T (p.Val1373=)
c.9384G>T (p.Val3128=)
n.9832G>T
 gnomAD v4
6g.89695701C>GCA451349953MDN1n.375G>C
c.9675G>C (p.Val3225=)
c.3660G>C (p.Val1220=)
c.4119G>C (p.Val1373=)
c.9384G>C (p.Val3128=)
n.9832G>C
6g.89695701C>TCA451349954MDN1n.375G>A
c.9675G>A (p.Val3225=)
c.3660G>A (p.Val1220=)
c.4119G>A (p.Val1373=)
c.9384G>A (p.Val3128=)
n.9832G>A
6g.89695702A>CCA364989236MDN1n.374T>G
c.9674T>G (p.Val3225Gly)
c.3659T>G (p.Val1220Gly)
c.4118T>G (p.Val1373Gly)
c.9383T>G (p.Val3128Gly)
n.9831T>G
6g.89695702A>GCA364989238MDN1n.374T>C
c.9674T>C (p.Val3225Ala)
c.3659T>C (p.Val1220Ala)
c.4118T>C (p.Val1373Ala)
c.9383T>C (p.Val3128Ala)
n.9831T>C
6g.89695702A>TCA364989240MDN1n.374T>A
c.9674T>A (p.Val3225Glu)
c.3659T>A (p.Val1220Glu)
c.4118T>A (p.Val1373Glu)
c.9383T>A (p.Val3128Glu)
n.9831T>A
6g.89695703C>ACA364989246MDN1n.373G>T
c.9673G>T (p.Val3225Leu)
c.3658G>T (p.Val1220Leu)
c.4117G>T (p.Val1373Leu)
c.9382G>T (p.Val3128Leu)
n.9830G>T
6g.89695703C>GCA364989244MDN1n.373G>C
c.9673G>C (p.Val3225Leu)
c.3658G>C (p.Val1220Leu)
c.4117G>C (p.Val1373Leu)
c.9382G>C (p.Val3128Leu)
n.9830G>C
6g.89695703C>TCA364989242MDN1n.373G>A
c.9673G>A (p.Val3225Met)
c.3658G>A (p.Val1220Met)
c.4117G>A (p.Val1373Met)
c.9382G>A (p.Val3128Met)
n.9830G>A
6g.89695704C>ACA364989248MDN1n.372G>T
c.9672G>T (p.Trp3224Cys)
c.3657G>T (p.Trp1219Cys)
c.4116G>T (p.Trp1372Cys)
c.9381G>T (p.Trp3127Cys)
n.9829G>T
6g.89695704C>GCA364989249MDN1n.372G>C
c.9672G>C (p.Trp3224Cys)
c.3657G>C (p.Trp1219Cys)
c.4116G>C (p.Trp1372Cys)
c.9381G>C (p.Trp3127Cys)
n.9829G>C
6g.89695704C>TCA364989250MDN1n.372G>A
c.9672G>A (p.Trp3224Ter)
c.3657G>A (p.Trp1219Ter)
c.4116G>A (p.Trp1372Ter)
c.9381G>A (p.Trp3127Ter)
n.9829G>A
6g.89695705C>ACA364989252MDN1n.371G>T
c.9671G>T (p.Trp3224Leu)
c.3656G>T (p.Trp1219Leu)
c.4115G>T (p.Trp1372Leu)
c.9380G>T (p.Trp3127Leu)
n.9828G>T
6g.89695705C>GCA364989253MDN1n.371G>C
c.9671G>C (p.Trp3224Ser)
c.3656G>C (p.Trp1219Ser)
c.4115G>C (p.Trp1372Ser)
c.9380G>C (p.Trp3127Ser)
n.9828G>C
6g.89695705C>TCA364989255MDN1n.371G>A
c.9671G>A (p.Trp3224Ter)
c.3656G>A (p.Trp1219Ter)
c.4115G>A (p.Trp1372Ter)
c.9380G>A (p.Trp3127Ter)
n.9828G>A
6g.89695706A>CCA364989257MDN1n.370T>G
c.9670T>G (p.Trp3224Gly)
c.3655T>G (p.Trp1219Gly)
c.4114T>G (p.Trp1372Gly)
c.9379T>G (p.Trp3127Gly)
n.9827T>G
6g.89695706A>GCA364989258MDN1n.370T>C
c.9670T>C (p.Trp3224Arg)
c.3655T>C (p.Trp1219Arg)
c.4114T>C (p.Trp1372Arg)
c.9379T>C (p.Trp3127Arg)
n.9827T>C
6g.89695706A>TCA364989260MDN1n.370T>A
c.9670T>A (p.Trp3224Arg)
c.3655T>A (p.Trp1219Arg)
c.4114T>A (p.Trp1372Arg)
c.9379T>A (p.Trp3127Arg)
n.9827T>A
 gnomAD v4
6g.89695707G>ACA451349957MDN1n.369C>T
c.9669C>T (p.Leu3223=)
c.3654C>T (p.Leu1218=)
c.4113C>T (p.Leu1371=)
c.9378C>T (p.Leu3126=)
n.9826C>T
 dbSNP gnomAD v2 gnomAD v4
6g.89695707G>CCA451349958MDN1n.369C>G
c.9669C>G (p.Leu3223=)
c.3654C>G (p.Leu1218=)
c.4113C>G (p.Leu1371=)
c.9378C>G (p.Leu3126=)
n.9826C>G
6g.89695707G=CA1645564877MDN1n.369C=
c.9669C= (p.Leu3223=)
c.3654C= (p.Leu1218=)
c.4113C= (p.Leu1371=)
c.9378C= (p.Leu3126=)
n.9826C=
6g.89695707G>TCA451349959MDN1n.369C>A
c.9669C>A (p.Leu3223=)
c.3654C>A (p.Leu1218=)
c.4113C>A (p.Leu1371=)
c.9378C>A (p.Leu3126=)
n.9826C>A
6g.89695708A=CA1645564879MDN1n.368T=
c.9668T= (p.Leu3223=)
c.3653T= (p.Leu1218=)
c.4112T= (p.Leu1371=)
c.9377T= (p.Leu3126=)
n.9825T=
6g.89695708A>CCA364989262MDN1n.368T>G
c.9668T>G (p.Leu3223Arg)
c.3653T>G (p.Leu1218Arg)
c.4112T>G (p.Leu1371Arg)
c.9377T>G (p.Leu3126Arg)
n.9825T>G
 dbSNP
6g.89695708A>GCA364989263MDN1n.368T>C
c.9668T>C (p.Leu3223Pro)
c.3653T>C (p.Leu1218Pro)
c.4112T>C (p.Leu1371Pro)
c.9377T>C (p.Leu3126Pro)
n.9825T>C
6g.89695708A>TCA364989265MDN1n.368T>A
c.9668T>A (p.Leu3223His)
c.3653T>A (p.Leu1218His)
c.4112T>A (p.Leu1371His)
c.9377T>A (p.Leu3126His)
n.9825T>A
6g.89695709G>ACA364989269MDN1n.367C>T
c.9667C>T (p.Leu3223Phe)
c.3652C>T (p.Leu1218Phe)
c.4111C>T (p.Leu1371Phe)
c.9376C>T (p.Leu3126Phe)
n.9824C>T
 gnomAD v4
6g.89695709G>CCA364989271MDN1n.367C>G
c.9667C>G (p.Leu3223Val)
c.3652C>G (p.Leu1218Val)
c.4111C>G (p.Leu1371Val)
c.9376C>G (p.Leu3126Val)
n.9824C>G
6g.89695709G=CA1645564882MDN1n.367C=
c.9667C= (p.Leu3223=)
c.3652C= (p.Leu1218=)
c.4111C= (p.Leu1371=)
c.9376C= (p.Leu3126=)
n.9824C=
6g.89695709G>TCA364989268MDN1n.367C>A
c.9667C>A (p.Leu3223Ile)
c.3652C>A (p.Leu1218Ile)
c.4111C>A (p.Leu1371Ile)
c.9376C>A (p.Leu3126Ile)
n.9824C>A
 dbSNP gnomAD v2
6g.89695710G>ACA451349961MDN1n.366C>T
c.9666C>T (p.Ser3222=)
c.3651C>T (p.Ser1217=)
c.4110C>T (p.Ser1370=)
c.9375C>T (p.Ser3125=)
n.9823C>T
6g.89695710G>CCA364989273MDN1n.366C>G
c.9666C>G (p.Ser3222Arg)
c.3651C>G (p.Ser1217Arg)
c.4110C>G (p.Ser1370Arg)
c.9375C>G (p.Ser3125Arg)
n.9823C>G
6g.89695710G=CA1645564885MDN1n.366C=
c.9666C= (p.Ser3222=)
c.3651C= (p.Ser1217=)
c.4110C= (p.Ser1370=)
c.9375C= (p.Ser3125=)
n.9823C=
6g.89695710G>TCA364989275MDN1n.366C>A
c.9666C>A (p.Ser3222Arg)
c.3651C>A (p.Ser1217Arg)
c.4110C>A (p.Ser1370Arg)
c.9375C>A (p.Ser3125Arg)
n.9823C>A
 dbSNP gnomAD v3 gnomAD v4
6g.89695711C>ACA364989278MDN1n.365G>T
c.9665G>T (p.Ser3222Ile)
c.3650G>T (p.Ser1217Ile)
c.4109G>T (p.Ser1370Ile)
c.9374G>T (p.Ser3125Ile)
n.9822G>T
6g.89695711C=CA1645564887MDN1n.365G=
c.9665G= (p.Ser3222=)
c.3650G= (p.Ser1217=)
c.4109G= (p.Ser1370=)
c.9374G= (p.Ser3125=)
n.9822G=
6g.89695711C>GCA364989280MDN1n.365G>C
c.9665G>C (p.Ser3222Thr)
c.3650G>C (p.Ser1217Thr)
c.4109G>C (p.Ser1370Thr)
c.9374G>C (p.Ser3125Thr)
n.9822G>C
6g.89695711C>TCA364989282MDN1n.365G>A
c.9665G>A (p.Ser3222Asn)
c.3650G>A (p.Ser1217Asn)
c.4109G>A (p.Ser1370Asn)
c.9374G>A (p.Ser3125Asn)
n.9822G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.89695712T>ACA364989284MDN1n.364A>T
c.9664A>T (p.Ser3222Cys)
c.3649A>T (p.Ser1217Cys)
c.4108A>T (p.Ser1370Cys)
c.9373A>T (p.Ser3125Cys)
n.9821A>T
6g.89695712T>CCA364989286MDN1n.364A>G
c.9664A>G (p.Ser3222Gly)
c.3649A>G (p.Ser1217Gly)
c.4108A>G (p.Ser1370Gly)
c.9373A>G (p.Ser3125Gly)
n.9821A>G
6g.89695712T>GCA364989288MDN1n.364A>C
c.9664A>C (p.Ser3222Arg)
c.3649A>C (p.Ser1217Arg)
c.4108A>C (p.Ser1370Arg)
c.9373A>C (p.Ser3125Arg)
n.9821A>C
6g.89695713C>ACA451349963MDN1n.363G>T
c.9663G>T (p.Gly3221=)
c.3648G>T (p.Gly1216=)
c.4107G>T (p.Gly1369=)
c.9372G>T (p.Gly3124=)
n.9820G>T
6g.89695713C=CA1645564891MDN1n.363G=
c.9663G= (p.Gly3221=)
c.3648G= (p.Gly1216=)
c.4107G= (p.Gly1369=)
c.9372G= (p.Gly3124=)
n.9820G=
6g.89695713C>GCA3923748MDN1n.363G>C
c.9663G>C (p.Gly3221=)
c.3648G>C (p.Gly1216=)
c.4107G>C (p.Gly1369=)
c.9372G>C (p.Gly3124=)
n.9820G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695713C>TCA451349964MDN1n.363G>A
c.9663G>A (p.Gly3221=)
c.3648G>A (p.Gly1216=)
c.4107G>A (p.Gly1369=)
c.9372G>A (p.Gly3124=)
n.9820G>A
 gnomAD v4
6g.89695714C>ACA364989291MDN1n.362G>T
c.9662G>T (p.Gly3221Val)
c.3647G>T (p.Gly1216Val)
c.4106G>T (p.Gly1369Val)
c.9371G>T (p.Gly3124Val)
n.9819G>T
6g.89695714C>GCA364989293MDN1n.362G>C
c.9662G>C (p.Gly3221Ala)
c.3647G>C (p.Gly1216Ala)
c.4106G>C (p.Gly1369Ala)
c.9371G>C (p.Gly3124Ala)
n.9819G>C
6g.89695714C>TCA364989295MDN1n.362G>A
c.9662G>A (p.Gly3221Glu)
c.3647G>A (p.Gly1216Glu)
c.4106G>A (p.Gly1369Glu)
c.9371G>A (p.Gly3124Glu)
n.9819G>A
6g.89695715C>ACA364989299MDN1n.361G>T
c.9661G>T (p.Gly3221Trp)
c.3646G>T (p.Gly1216Trp)
c.4105G>T (p.Gly1369Trp)
c.9370G>T (p.Gly3124Trp)
n.9818G>T
6g.89695715C>GCA364989301MDN1n.361G>C
c.9661G>C (p.Gly3221Arg)
c.3646G>C (p.Gly1216Arg)
c.4105G>C (p.Gly1369Arg)
c.9370G>C (p.Gly3124Arg)
n.9818G>C
6g.89695715C>TCA364989297MDN1n.361G>A
c.9661G>A (p.Gly3221Arg)
c.3646G>A (p.Gly1216Arg)
c.4105G>A (p.Gly1369Arg)
c.9370G>A (p.Gly3124Arg)
n.9818G>A
6g.89695716A=CA1645564895MDN1n.360T=
c.9660T= (p.Arg3220=)
c.3645T= (p.Arg1215=)
c.4104T= (p.Arg1368=)
c.9369T= (p.Arg3123=)
n.9817T=
6g.89695716A>CCA451349970MDN1n.360T>G
c.9660T>G (p.Arg3220=)
c.3645T>G (p.Arg1215=)
c.4104T>G (p.Arg1368=)
c.9369T>G (p.Arg3123=)
n.9817T>G
6g.89695716A>GCA451349967MDN1n.360T>C
c.9660T>C (p.Arg3220=)
c.3645T>C (p.Arg1215=)
c.4104T>C (p.Arg1368=)
c.9369T>C (p.Arg3123=)
n.9817T>C
 dbSNP gnomAD v2
6g.89695716A>TCA451349968MDN1n.360T>A
c.9660T>A (p.Arg3220=)
c.3645T>A (p.Arg1215=)
c.4104T>A (p.Arg1368=)
c.9369T>A (p.Arg3123=)
n.9817T>A
6g.89695717C>ACA364989303MDN1n.359G>T
c.9659G>T (p.Arg3220Leu)
c.3644G>T (p.Arg1215Leu)
c.4103G>T (p.Arg1368Leu)
c.9368G>T (p.Arg3123Leu)
n.9816G>T
6g.89695717C=CA1645564898MDN1n.359G=
c.9659G= (p.Arg3220=)
c.3644G= (p.Arg1215=)
c.4103G= (p.Arg1368=)
c.9368G= (p.Arg3123=)
n.9816G=
6g.89695717C>GCA364989305MDN1n.359G>C
c.9659G>C (p.Arg3220Pro)
c.3644G>C (p.Arg1215Pro)
c.4103G>C (p.Arg1368Pro)
c.9368G>C (p.Arg3123Pro)
n.9816G>C
 gnomAD v4
6g.89695717C>TCA3923749MDN1n.359G>A
c.9659G>A (p.Arg3220His)
c.3644G>A (p.Arg1215His)
c.4103G>A (p.Arg1368His)
c.9368G>A (p.Arg3123His)
n.9816G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.89695718G>ACA3923750MDN1n.358C>T
c.9658C>T (p.Arg3220Cys)
c.3643C>T (p.Arg1215Cys)
c.4102C>T (p.Arg1368Cys)
c.9367C>T (p.Arg3123Cys)
n.9815C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695718G>CCA364989309MDN1n.358C>G
c.9658C>G (p.Arg3220Gly)
c.3643C>G (p.Arg1215Gly)
c.4102C>G (p.Arg1368Gly)
c.9367C>G (p.Arg3123Gly)
n.9815C>G
6g.89695718G=CA1645564900MDN1n.358C=
c.9658C= (p.Arg3220=)
c.3643C= (p.Arg1215=)
c.4102C= (p.Arg1368=)
c.9367C= (p.Arg3123=)
n.9815C=
6g.89695718G>TCA364989311MDN1n.358C>A
c.9658C>A (p.Arg3220Ser)
c.3643C>A (p.Arg1215Ser)
c.4102C>A (p.Arg1368Ser)
c.9367C>A (p.Arg3123Ser)
n.9815C>A
 gnomAD v4
6g.89695719C>ACA364989314MDN1n.357G>T
c.9657G>T (p.Gln3219His)
c.3642G>T (p.Gln1214His)
c.4101G>T (p.Gln1367His)
c.9366G>T (p.Gln3122His)
n.9814G>T
 gnomAD v4
6g.89695719C>GCA364989313MDN1n.357G>C
c.9657G>C (p.Gln3219His)
c.3642G>C (p.Gln1214His)
c.4101G>C (p.Gln1367His)
c.9366G>C (p.Gln3122His)
n.9814G>C
6g.89695719C>TCA451349972MDN1n.357G>A
c.9657G>A (p.Gln3219=)
c.3642G>A (p.Gln1214=)
c.4101G>A (p.Gln1367=)
c.9366G>A (p.Gln3122=)
n.9814G>A
 gnomAD v4
6g.89695720T>ACA364989317MDN1n.356A>T
c.9656A>T (p.Gln3219Leu)
c.3641A>T (p.Gln1214Leu)
c.4100A>T (p.Gln1367Leu)
c.9365A>T (p.Gln3122Leu)
n.9813A>T
6g.89695720T>CCA364989319MDN1n.356A>G
c.9656A>G (p.Gln3219Arg)
c.3641A>G (p.Gln1214Arg)
c.4100A>G (p.Gln1367Arg)
c.9365A>G (p.Gln3122Arg)
n.9813A>G
 dbSNP
6g.89695720T>GCA364989321MDN1n.356A>C
c.9656A>C (p.Gln3219Pro)
c.3641A>C (p.Gln1214Pro)
c.4100A>C (p.Gln1367Pro)
c.9365A>C (p.Gln3122Pro)
n.9813A>C
6g.89695720T=CA1645564903MDN1n.356A=
c.9656A= (p.Gln3219=)
c.3641A= (p.Gln1214=)
c.4100A= (p.Gln1367=)
c.9365A= (p.Gln3122=)
n.9813A=
6g.89695721G>ACA364989323MDN1n.355C>T
c.9655C>T (p.Gln3219Ter)
c.3640C>T (p.Gln1214Ter)
c.4099C>T (p.Gln1367Ter)
c.9364C>T (p.Gln3122Ter)
n.9812C>T
 dbSNP gnomAD v2 gnomAD v4
6g.89695721G>CCA3923751MDN1n.355C>G
c.9655C>G (p.Gln3219Glu)
c.3640C>G (p.Gln1214Glu)
c.4099C>G (p.Gln1367Glu)
c.9364C>G (p.Gln3122Glu)
n.9812C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695721G=CA1645564907MDN1n.355C=
c.9655C= (p.Gln3219=)
c.3640C= (p.Gln1214=)
c.4099C= (p.Gln1367=)
c.9364C= (p.Gln3122=)
n.9812C=
6g.89695721G>TCA364989327MDN1n.355C>A
c.9655C>A (p.Gln3219Lys)
c.3640C>A (p.Gln1214Lys)
c.4099C>A (p.Gln1367Lys)
c.9364C>A (p.Gln3122Lys)
n.9812C>A
6g.89695722G>ACA451349975MDN1n.354C>T
c.9654C>T (p.Ala3218=)
c.3639C>T (p.Ala1213=)
c.4098C>T (p.Ala1366=)
c.9363C>T (p.Ala3121=)
n.9811C>T
6g.89695722G>CCA451349974MDN1n.354C>G
c.9654C>G (p.Ala3218=)
c.3639C>G (p.Ala1213=)
c.4098C>G (p.Ala1366=)
c.9363C>G (p.Ala3121=)
n.9811C>G
6g.89695722G>TCA451349976MDN1n.354C>A
c.9654C>A (p.Ala3218=)
c.3639C>A (p.Ala1213=)
c.4098C>A (p.Ala1366=)
c.9363C>A (p.Ala3121=)
n.9811C>A
6g.89695723G>ACA364989332MDN1n.353C>T
c.9653C>T (p.Ala3218Val)
c.3638C>T (p.Ala1213Val)
c.4097C>T (p.Ala1366Val)
c.9362C>T (p.Ala3121Val)
n.9810C>T
6g.89695723G>CCA364989331MDN1n.353C>G
c.9653C>G (p.Ala3218Gly)
c.3638C>G (p.Ala1213Gly)
c.4097C>G (p.Ala1366Gly)
c.9362C>G (p.Ala3121Gly)
n.9810C>G
6g.89695723G>TCA364989329MDN1n.353C>A
c.9653C>A (p.Ala3218Asp)
c.3638C>A (p.Ala1213Asp)
c.4097C>A (p.Ala1366Asp)
c.9362C>A (p.Ala3121Asp)
n.9810C>A
6g.89695724C>ACA364989334MDN1n.352G>T
c.9652G>T (p.Ala3218Ser)
c.3637G>T (p.Ala1213Ser)
c.4096G>T (p.Ala1366Ser)
c.9361G>T (p.Ala3121Ser)
n.9809G>T
6g.89695724C>GCA364989338MDN1n.352G>C
c.9652G>C (p.Ala3218Pro)
c.3637G>C (p.Ala1213Pro)
c.4096G>C (p.Ala1366Pro)
c.9361G>C (p.Ala3121Pro)
n.9809G>C
6g.89695724C>TCA364989336MDN1n.352G>A
c.9652G>A (p.Ala3218Thr)
c.3637G>A (p.Ala1213Thr)
c.4096G>A (p.Ala1366Thr)
c.9361G>A (p.Ala3121Thr)
n.9809G>A
6g.89695725T>ACA451349978MDN1n.351A>T
c.9651A>T (p.Pro3217=)
c.3636A>T (p.Pro1212=)
c.4095A>T (p.Pro1365=)
c.9360A>T (p.Pro3120=)
n.9808A>T
 gnomAD v4
6g.89695725T>CCA451349979MDN1n.351A>G
c.9651A>G (p.Pro3217=)
c.3636A>G (p.Pro1212=)
c.4095A>G (p.Pro1365=)
c.9360A>G (p.Pro3120=)
n.9808A>G
6g.89695725T>GCA451349980MDN1n.351A>C
c.9651A>C (p.Pro3217=)
c.3636A>C (p.Pro1212=)
c.4095A>C (p.Pro1365=)
c.9360A>C (p.Pro3120=)
n.9808A>C
6g.89695726G>ACA364989340MDN1n.350C>T
c.9650C>T (p.Pro3217Leu)
c.3635C>T (p.Pro1212Leu)
c.4094C>T (p.Pro1365Leu)
c.9359C>T (p.Pro3120Leu)
n.9807C>T
 gnomAD v4
6g.89695726G>CCA364989342MDN1n.350C>G
c.9650C>G (p.Pro3217Arg)
c.3635C>G (p.Pro1212Arg)
c.4094C>G (p.Pro1365Arg)
c.9359C>G (p.Pro3120Arg)
n.9807C>G
6g.89695726G>TCA364989345MDN1n.350C>A
c.9650C>A (p.Pro3217Gln)
c.3635C>A (p.Pro1212Gln)
c.4094C>A (p.Pro1365Gln)
c.9359C>A (p.Pro3120Gln)
n.9807C>A
6g.89695726_89695728dupCA2679685453MDN1n.348_350dup
c.9648_9650dup (p.Pro3217_Ala3218insPro)
c.3633_3635dup (p.Pro1212_Ala1213insPro)
c.4092_4094dup (p.Pro1365_Ala1366insPro)
c.9357_9359dup (p.Pro3120_Ala3121insPro)
n.9805_9807dup
 gnomAD v4
6g.89695727G>ACA3923752MDN1n.349C>T
c.9649C>T (p.Pro3217Ser)
c.3634C>T (p.Pro1212Ser)
c.4093C>T (p.Pro1365Ser)
c.9358C>T (p.Pro3120Ser)
n.9806C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695727G>CCA364989348MDN1n.349C>G
c.9649C>G (p.Pro3217Ala)
c.3634C>G (p.Pro1212Ala)
c.4093C>G (p.Pro1365Ala)
c.9358C>G (p.Pro3120Ala)
n.9806C>G
6g.89695727G=CA1645564911MDN1n.349C=
c.9649C= (p.Pro3217=)
c.3634C= (p.Pro1212=)
c.4093C= (p.Pro1365=)
c.9358C= (p.Pro3120=)
n.9806C=
6g.89695727G>TCA364989350MDN1n.349C>A
c.9649C>A (p.Pro3217Thr)
c.3634C>A (p.Pro1212Thr)
c.4093C>A (p.Pro1365Thr)
c.9358C>A (p.Pro3120Thr)
n.9806C>A
6g.89695728C>ACA364989352MDN1n.348G>T
c.9648G>T (p.Glu3216Asp)
c.3633G>T (p.Glu1211Asp)
c.4092G>T (p.Glu1364Asp)
c.9357G>T (p.Glu3119Asp)
n.9805G>T
6g.89695728C>GCA364989355MDN1n.348G>C
c.9648G>C (p.Glu3216Asp)
c.3633G>C (p.Glu1211Asp)
c.4092G>C (p.Glu1364Asp)
c.9357G>C (p.Glu3119Asp)
n.9805G>C
6g.89695728C>TCA451349984MDN1n.348G>A
c.9648G>A (p.Glu3216=)
c.3633G>A (p.Glu1211=)
c.4092G>A (p.Glu1364=)
c.9357G>A (p.Glu3119=)
n.9805G>A
6g.89695729T>ACA364989357MDN1n.347A>T
c.9647A>T (p.Glu3216Val)
c.3632A>T (p.Glu1211Val)
c.4091A>T (p.Glu1364Val)
c.9356A>T (p.Glu3119Val)
n.9804A>T
6g.89695729T>CCA364989359MDN1n.347A>G
c.9647A>G (p.Glu3216Gly)
c.3632A>G (p.Glu1211Gly)
c.4091A>G (p.Glu1364Gly)
c.9356A>G (p.Glu3119Gly)
n.9804A>G
6g.89695729T>GCA364989360MDN1n.347A>C
c.9647A>C (p.Glu3216Ala)
c.3632A>C (p.Glu1211Ala)
c.4091A>C (p.Glu1364Ala)
c.9356A>C (p.Glu3119Ala)
n.9804A>C
6g.89695730C>ACA364989367MDN1n.346G>T
c.9646G>T (p.Glu3216Ter)
c.3631G>T (p.Glu1211Ter)
c.4090G>T (p.Glu1364Ter)
c.9355G>T (p.Glu3119Ter)
n.9803G>T
6g.89695730C>GCA364989365MDN1n.346G>C
c.9646G>C (p.Glu3216Gln)
c.3631G>C (p.Glu1211Gln)
c.4090G>C (p.Glu1364Gln)
c.9355G>C (p.Glu3119Gln)
n.9803G>C
 COSMIC
6g.89695730C>TCA364989364MDN1n.346G>A
c.9646G>A (p.Glu3216Lys)
c.3631G>A (p.Glu1211Lys)
c.4090G>A (p.Glu1364Lys)
c.9355G>A (p.Glu3119Lys)
n.9803G>A
6g.89695731A>CCA451349986MDN1n.345T>G
c.9645T>G (p.Pro3215=)
c.3630T>G (p.Pro1210=)
c.4089T>G (p.Pro1363=)
c.9354T>G (p.Pro3118=)
n.9802T>G
6g.89695731A>GCA451349987MDN1n.345T>C
c.9645T>C (p.Pro3215=)
c.3630T>C (p.Pro1210=)
c.4089T>C (p.Pro1363=)
c.9354T>C (p.Pro3118=)
n.9802T>C
6g.89695731A>TCA451349988MDN1n.345T>A
c.9645T>A (p.Pro3215=)
c.3630T>A (p.Pro1210=)
c.4089T>A (p.Pro1363=)
c.9354T>A (p.Pro3118=)
n.9802T>A
6g.89695731_89695732insATTACGTCAACA2570887085MDN1n.345_346insTGACGTAATT
c.9645_9646insTGACGTAATT (p.Glu3216Ter)
c.3630_3631insTGACGTAATT (p.Glu1211Ter)
c.4089_4090insTGACGTAATT (p.Glu1364Ter)
c.9354_9355insTGACGTAATT (p.Glu3119Ter)
n.9802_9803insTGACGTAATT
6g.89695732G>ACA364989370MDN1n.344C>T
c.9644C>T (p.Pro3215Leu)
c.3629C>T (p.Pro1210Leu)
c.4088C>T (p.Pro1363Leu)
c.9353C>T (p.Pro3118Leu)
n.9801C>T
6g.89695732G>CCA364989371MDN1n.344C>G
c.9644C>G (p.Pro3215Arg)
c.3629C>G (p.Pro1210Arg)
c.4088C>G (p.Pro1363Arg)
c.9353C>G (p.Pro3118Arg)
n.9801C>G
6g.89695732G>TCA364989373MDN1n.344C>A
c.9644C>A (p.Pro3215His)
c.3629C>A (p.Pro1210His)
c.4088C>A (p.Pro1363His)
c.9353C>A (p.Pro3118His)
n.9801C>A
6g.89695733G>ACA364989375MDN1n.343C>T
c.9643C>T (p.Pro3215Ser)
c.3628C>T (p.Pro1210Ser)
c.4087C>T (p.Pro1363Ser)
c.9352C>T (p.Pro3118Ser)
n.9800C>T
 dbSNP gnomAD v4
6g.89695733G>CCA364989377MDN1n.343C>G
c.9643C>G (p.Pro3215Ala)
c.3628C>G (p.Pro1210Ala)
c.4087C>G (p.Pro1363Ala)
c.9352C>G (p.Pro3118Ala)
n.9800C>G
6g.89695733G>TCA364989379MDN1n.343C>A
c.9643C>A (p.Pro3215Thr)
c.3628C>A (p.Pro1210Thr)
c.4087C>A (p.Pro1363Thr)
c.9352C>A (p.Pro3118Thr)
n.9800C>A
6g.89695734C>ACA451349990MDN1n.342G>T
c.9642G>T (p.Leu3214=)
c.3627G>T (p.Leu1209=)
c.4086G>T (p.Leu1362=)
c.9351G>T (p.Leu3117=)
n.9799G>T
6g.89695734C=CA1645564916MDN1n.342G=
c.9642G= (p.Leu3214=)
c.3627G= (p.Leu1209=)
c.4086G= (p.Leu1362=)
c.9351G= (p.Leu3117=)
n.9799G=
6g.89695734C>GCA3923753MDN1n.342G>C
c.9642G>C (p.Leu3214=)
c.3627G>C (p.Leu1209=)
c.4086G>C (p.Leu1362=)
c.9351G>C (p.Leu3117=)
n.9799G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.89695734C>TCA451349991MDN1n.342G>A
c.9642G>A (p.Leu3214=)
c.3627G>A (p.Leu1209=)
c.4086G>A (p.Leu1362=)
c.9351G>A (p.Leu3117=)
n.9799G>A
 dbSNP
6g.89695735A>CCA364989381MDN1n.341T>G
c.9641T>G (p.Leu3214Arg)
c.3626T>G (p.Leu1209Arg)
c.4085T>G (p.Leu1362Arg)
c.9350T>G (p.Leu3117Arg)
n.9798T>G
6g.89695735A>GCA364989383MDN1n.341T>C
c.9641T>C (p.Leu3214Pro)
c.3626T>C (p.Leu1209Pro)
c.4085T>C (p.Leu1362Pro)
c.9350T>C (p.Leu3117Pro)
n.9798T>C
6g.89695735A>TCA364989385MDN1n.341T>A
c.9641T>A (p.Leu3214Gln)
c.3626T>A (p.Leu1209Gln)
c.4085T>A (p.Leu1362Gln)
c.9350T>A (p.Leu3117Gln)
n.9798T>A
6g.89695736G>ACA451349993MDN1n.340C>T
c.9640C>T (p.Leu3214=)
c.3625C>T (p.Leu1209=)
c.4084C>T (p.Leu1362=)
c.9349C>T (p.Leu3117=)
n.9797C>T
6g.89695736G>CCA364989387MDN1n.340C>G
c.9640C>G (p.Leu3214Val)
c.3625C>G (p.Leu1209Val)
c.4084C>G (p.Leu1362Val)
c.9349C>G (p.Leu3117Val)
n.9797C>G
6g.89695736G>TCA364989390MDN1n.340C>A
c.9640C>A (p.Leu3214Met)
c.3625C>A (p.Leu1209Met)
c.4084C>A (p.Leu1362Met)
c.9349C>A (p.Leu3117Met)
n.9797C>A
6g.89695736_89695737insAGGTATCA2508238658MDN1n.339_340insATACCT
c.9639_9640insATACCT (p.Ser3213_Leu3214insIlePro)
c.3624_3625insATACCT (p.Ser1208_Leu1209insIlePro)
c.4083_4084insATACCT (p.Ser1361_Leu1362insIlePro)
c.9348_9349insATACCT (p.Ser3116_Leu3117insIlePro)
n.9796_9797insATACCT
6g.89695737G>ACA451349995MDN1n.339C>T
c.9639C>T (p.Ser3213=)
c.3624C>T (p.Ser1208=)
c.4083C>T (p.Ser1361=)
c.9348C>T (p.Ser3116=)
n.9796C>T
6g.89695737G>CCA364989394MDN1n.339C>G
c.9639C>G (p.Ser3213Arg)
c.3624C>G (p.Ser1208Arg)
c.4083C>G (p.Ser1361Arg)
c.9348C>G (p.Ser3116Arg)
n.9796C>G
6g.89695737G>TCA364989392MDN1n.339C>A
c.9639C>A (p.Ser3213Arg)
c.3624C>A (p.Ser1208Arg)
c.4083C>A (p.Ser1361Arg)
c.9348C>A (p.Ser3116Arg)
n.9796C>A
6g.89695738C>ACA364989396MDN1n.338G>T
c.9638G>T (p.Ser3213Ile)
c.3623G>T (p.Ser1208Ile)
c.4082G>T (p.Ser1361Ile)
c.9347G>T (p.Ser3116Ile)
n.9795G>T
 dbSNP
6g.89695738C=CA1645564919MDN1n.338G=
c.9638G= (p.Ser3213=)
c.3623G= (p.Ser1208=)
c.4082G= (p.Ser1361=)
c.9347G= (p.Ser3116=)
n.9795G=
6g.89695738C>GCA364989399MDN1n.338G>C
c.9638G>C (p.Ser3213Thr)
c.3623G>C (p.Ser1208Thr)
c.4082G>C (p.Ser1361Thr)
c.9347G>C (p.Ser3116Thr)
n.9795G>C
6g.89695738C>TCA364989401MDN1n.338G>A
c.9638G>A (p.Ser3213Asn)
c.3623G>A (p.Ser1208Asn)
c.4082G>A (p.Ser1361Asn)
c.9347G>A (p.Ser3116Asn)
n.9795G>A
 dbSNP gnomAD v4
6g.89695739T>ACA364989402MDN1n.337A>T
c.9637A>T (p.Ser3213Cys)
c.3622A>T (p.Ser1208Cys)
c.4081A>T (p.Ser1361Cys)
c.9346A>T (p.Ser3116Cys)
n.9794A>T
6g.89695739T>CCA364989404MDN1n.337A>G
c.9637A>G (p.Ser3213Gly)
c.3622A>G (p.Ser1208Gly)
c.4081A>G (p.Ser1361Gly)
c.9346A>G (p.Ser3116Gly)
n.9794A>G
6g.89695739T>GCA364989406MDN1n.337A>C
c.9637A>C (p.Ser3213Arg)
c.3622A>C (p.Ser1208Arg)
c.4081A>C (p.Ser1361Arg)
c.9346A>C (p.Ser3116Arg)
n.9794A>C
6g.89695740C>ACA364989408MDN1n.336G>T
c.9636G>T (p.Arg3212Ser)
c.3621G>T (p.Arg1207Ser)
c.4080G>T (p.Arg1360Ser)
c.9345G>T (p.Arg3115Ser)
n.9793G>T
6g.89695740C=CA1645564921MDN1n.336G=
c.9636G= (p.Arg3212=)
c.3621G= (p.Arg1207=)
c.4080G= (p.Arg1360=)
c.9345G= (p.Arg3115=)
n.9793G=
6g.89695740C>GCA364989410MDN1n.336G>C
c.9636G>C (p.Arg3212Ser)
c.3621G>C (p.Arg1207Ser)
c.4080G>C (p.Arg1360Ser)
c.9345G>C (p.Arg3115Ser)
n.9793G>C
6g.89695740C>TCA451349998MDN1n.336G>A
c.9636G>A (p.Arg3212=)
c.3621G>A (p.Arg1207=)
c.4080G>A (p.Arg1360=)
c.9345G>A (p.Arg3115=)
n.9793G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.89695741C>ACA364989412MDN1n.335G>T
c.9635G>T (p.Arg3212Met)
c.3620G>T (p.Arg1207Met)
c.4079G>T (p.Arg1360Met)
c.9344G>T (p.Arg3115Met)
n.9792G>T
6g.89695741C=CA1645564924MDN1n.335G=
c.9635G= (p.Arg3212=)
c.3620G= (p.Arg1207=)
c.4079G= (p.Arg1360=)
c.9344G= (p.Arg3115=)
n.9792G=
6g.89695741C>GCA364989416MDN1n.335G>C
c.9635G>C (p.Arg3212Thr)
c.3620G>C (p.Arg1207Thr)
c.4079G>C (p.Arg1360Thr)
c.9344G>C (p.Arg3115Thr)
n.9792G>C
6g.89695741C>TCA3923754MDN1n.335G>A
c.9635G>A (p.Arg3212Lys)
c.3620G>A (p.Arg1207Lys)
c.4079G>A (p.Arg1360Lys)
c.9344G>A (p.Arg3115Lys)
n.9792G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.89695742T>ACA364989418MDN1n.334A>T
c.9634A>T (p.Arg3212Trp)
c.3619A>T (p.Arg1207Trp)
c.4078A>T (p.Arg1360Trp)
c.9343A>T (p.Arg3115Trp)
n.9791A>T
6g.89695742T>CCA364989420MDN1n.334A>G
c.9634A>G (p.Arg3212Gly)
c.3619A>G (p.Arg1207Gly)
c.4078A>G (p.Arg1360Gly)
c.9343A>G (p.Arg3115Gly)
n.9791A>G
6g.89695742T>GCA451350001MDN1n.334A>C
c.9634A>C (p.Arg3212=)
c.3619A>C (p.Arg1207=)
c.4078A>C (p.Arg1360=)
c.9343A>C (p.Arg3115=)
n.9791A>C
6g.89695743C>ACA364989423MDN1n.333G>T
c.9633G>T (p.Lys3211Asn)
c.3618G>T (p.Lys1206Asn)
c.4077G>T (p.Lys1359Asn)
c.9342G>T (p.Lys3114Asn)
n.9790G>T
6g.89695743C=CA1645564927MDN1n.333G=
c.9633G= (p.Lys3211=)
c.3618G= (p.Lys1206=)
c.4077G= (p.Lys1359=)
c.9342G= (p.Lys3114=)
n.9790G=
6g.89695743C>GCA364989424MDN1n.333G>C
c.9633G>C (p.Lys3211Asn)
c.3618G>C (p.Lys1206Asn)
c.4077G>C (p.Lys1359Asn)
c.9342G>C (p.Lys3114Asn)
n.9790G>C
 dbSNP gnomAD v3 gnomAD v4
6g.89695743C>TCA451350003MDN1n.333G>A
c.9633G>A (p.Lys3211=)
c.3618G>A (p.Lys1206=)
c.4077G>A (p.Lys1359=)
c.9342G>A (p.Lys3114=)
n.9790G>A
6g.89695744T>ACA364989428MDN1n.332A>T
c.9632A>T (p.Lys3211Met)
c.3617A>T (p.Lys1206Met)
c.4076A>T (p.Lys1359Met)
c.9341A>T (p.Lys3114Met)
n.9789A>T
6g.89695744T>CCA364989432MDN1n.332A>G
c.9632A>G (p.Lys3211Arg)
c.3617A>G (p.Lys1206Arg)
c.4076A>G (p.Lys1359Arg)
c.9341A>G (p.Lys3114Arg)
n.9789A>G
6g.89695744T>GCA364989430MDN1n.332A>C
c.9632A>C (p.Lys3211Thr)
c.3617A>C (p.Lys1206Thr)
c.4076A>C (p.Lys1359Thr)
c.9341A>C (p.Lys3114Thr)
n.9789A>C
6g.89695745T>ACA364989434MDN1n.331A>T
c.9631A>T (p.Lys3211Ter)
c.3616A>T (p.Lys1206Ter)
c.4075A>T (p.Lys1359Ter)
c.9340A>T (p.Lys3114Ter)
n.9788A>T
6g.89695745T>CCA364989436MDN1n.331A>G
c.9631A>G (p.Lys3211Glu)
c.3616A>G (p.Lys1206Glu)
c.4075A>G (p.Lys1359Glu)
c.9340A>G (p.Lys3114Glu)
n.9788A>G
 gnomAD v4
6g.89695745T>GCA364989438MDN1n.331A>C
c.9631A>C (p.Lys3211Gln)
c.3616A>C (p.Lys1206Gln)
c.4075A>C (p.Lys1359Gln)
c.9340A>C (p.Lys3114Gln)
n.9788A>C
6g.89695746A>CCA364989442MDN1n.330T>G
c.9630T>G (p.Ser3210Arg)
c.3615T>G (p.Ser1205Arg)
c.4074T>G (p.Ser1358Arg)
c.9339T>G (p.Ser3113Arg)
n.9787T>G
6g.89695746A>GCA451350004MDN1n.330T>C
c.9630T>C (p.Ser3210=)
c.3615T>C (p.Ser1205=)
c.4074T>C (p.Ser1358=)
c.9339T>C (p.Ser3113=)
n.9787T>C
6g.89695746A>TCA364989443MDN1n.330T>A
c.9630T>A (p.Ser3210Arg)
c.3615T>A (p.Ser1205Arg)
c.4074T>A (p.Ser1358Arg)
c.9339T>A (p.Ser3113Arg)
n.9787T>A
6g.89695747C>ACA364989444MDN1n.329G>T
c.9629G>T (p.Ser3210Ile)
c.3614G>T (p.Ser1205Ile)
c.4073G>T (p.Ser1358Ile)
c.9338G>T (p.Ser3113Ile)
n.9786G>T
6g.89695747C>GCA364989445MDN1n.329G>C
c.9629G>C (p.Ser3210Thr)
c.3614G>C (p.Ser1205Thr)
c.4073G>C (p.Ser1358Thr)
c.9338G>C (p.Ser3113Thr)
n.9786G>C
6g.89695747C>TCA364989448MDN1n.329G>A
c.9629G>A (p.Ser3210Asn)
c.3614G>A (p.Ser1205Asn)
c.4073G>A (p.Ser1358Asn)
c.9338G>A (p.Ser3113Asn)
n.9786G>A
 gnomAD v4
6g.89695748T>ACA364989450MDN1n.328A>T
c.9628A>T (p.Ser3210Cys)
c.3613A>T (p.Ser1205Cys)
c.4072A>T (p.Ser1358Cys)
c.9337A>T (p.Ser3113Cys)
n.9785A>T
6g.89695748T>CCA3923755MDN1n.328A>G
c.9628A>G (p.Ser3210Gly)
c.3613A>G (p.Ser1205Gly)
c.4072A>G (p.Ser1358Gly)
c.9337A>G (p.Ser3113Gly)
n.9785A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.89695748T>GCA364989453MDN1n.328A>C
c.9628A>C (p.Ser3210Arg)
c.3613A>C (p.Ser1205Arg)
c.4072A>C (p.Ser1358Arg)
c.9337A>C (p.Ser3113Arg)
n.9785A>C
6g.89695748T=CA1645564931MDN1n.328A=
c.9628A= (p.Ser3210=)
c.3613A= (p.Ser1205=)
c.4072A= (p.Ser1358=)
c.9337A= (p.Ser3113=)
n.9785A=
6g.89695749C>ACA364989458MDN1n.327G>T
c.9627G>T (p.Glu3209Asp)
c.3612G>T (p.Glu1204Asp)
c.4071G>T (p.Glu1357Asp)
c.9336G>T (p.Glu3112Asp)
n.9784G>T
6g.89695749C=CA1645564933MDN1n.327G=
c.9627G= (p.Glu3209=)
c.3612G= (p.Glu1204=)
c.4071G= (p.Glu1357=)
c.9336G= (p.Glu3112=)
n.9784G=
6g.89695749C>GCA364989456MDN1n.327G>C
c.9627G>C (p.Glu3209Asp)
c.3612G>C (p.Glu1204Asp)
c.4071G>C (p.Glu1357Asp)
c.9336G>C (p.Glu3112Asp)
n.9784G>C
6g.89695749C>TCA142969260MDN1n.327G>A
c.9627G>A (p.Glu3209=)
c.3612G>A (p.Glu1204=)
c.4071G>A (p.Glu1357=)
c.9336G>A (p.Glu3112=)
n.9784G>A
 dbSNP gnomAD v4
6g.89695750T>ACA364989460MDN1n.326A>T
c.9626A>T (p.Glu3209Val)
c.3611A>T (p.Glu1204Val)
c.4070A>T (p.Glu1357Val)
c.9335A>T (p.Glu3112Val)
n.9783A>T
 gnomAD v4
6g.89695750T>CCA3923756MDN1n.326A>G
c.9626A>G (p.Glu3209Gly)
c.3611A>G (p.Glu1204Gly)
c.4070A>G (p.Glu1357Gly)
c.9335A>G (p.Glu3112Gly)
n.9783A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.89695750T>GCA364989462MDN1n.326A>C
c.9626A>C (p.Glu3209Ala)
c.3611A>C (p.Glu1204Ala)
c.4070A>C (p.Glu1357Ala)
c.9335A>C (p.Glu3112Ala)
n.9783A>C
6g.89695750T=CA1645564937MDN1n.326A=
c.9626A= (p.Glu3209=)
c.3611A= (p.Glu1204=)
c.4070A= (p.Glu1357=)
c.9335A= (p.Glu3112=)
n.9783A=
6g.89695751C>ACA364989465MDN1n.325G>T
c.9625G>T (p.Glu3209Ter)
c.3610G>T (p.Glu1204Ter)
c.4069G>T (p.Glu1357Ter)
c.9334G>T (p.Glu3112Ter)
n.9782G>T
6g.89695751C=CA1645564941MDN1n.325G=
c.9625G= (p.Glu3209=)
c.3610G= (p.Glu1204=)
c.4069G= (p.Glu1357=)
c.9334G= (p.Glu3112=)
n.9782G=
6g.89695751C>GCA364989467MDN1n.325G>C
c.9625G>C (p.Glu3209Gln)
c.3610G>C (p.Glu1204Gln)
c.4069G>C (p.Glu1357Gln)
c.9334G>C (p.Glu3112Gln)
n.9782G>C
6g.89695751C>TCA364989469MDN1n.325G>A
c.9625G>A (p.Glu3209Lys)
c.3610G>A (p.Glu1204Lys)
c.4069G>A (p.Glu1357Lys)
c.9334G>A (p.Glu3112Lys)
n.9782G>A
 dbSNP
6g.89695753_89695754dupCA2712759915MDN1n.324_325dup
c.9624_9625dup (p.Glu3209GlyfsTer18)
c.3609_3610dup (p.Glu1204GlyfsTer18)
c.4068_4069dup (p.Glu1357GlyfsTer18)
c.9333_9334dup (p.Glu3112GlyfsTer18)
n.9781_9782dup
 dbSNP
6g.89695752C>ACA451350008MDN1n.324G>T
c.9624G>T (p.Gly3208=)
c.3609G>T (p.Gly1203=)
c.4068G>T (p.Gly1356=)
c.9333G>T (p.Gly3111=)
n.9781G>T
6g.89695752C=CA1645564943MDN1n.324G=
c.9624G= (p.Gly3208=)
c.3609G= (p.Gly1203=)
c.4068G= (p.Gly1356=)
c.9333G= (p.Gly3111=)
n.9781G=
6g.89695752C>GCA451350010MDN1n.324G>C
c.9624G>C (p.Gly3208=)
c.3609G>C (p.Gly1203=)
c.4068G>C (p.Gly1356=)
c.9333G>C (p.Gly3111=)
n.9781G>C
6g.89695752C>TCA451350011MDN1n.324G>A
c.9624G>A (p.Gly3208=)
c.3609G>A (p.Gly1203=)
c.4068G>A (p.Gly1356=)
c.9333G>A (p.Gly3111=)
n.9781G>A
 dbSNP gnomAD v2 gnomAD v4
6g.89695753C>ACA364989471MDN1n.323G>T
c.9623G>T (p.Gly3208Val)
c.3608G>T (p.Gly1203Val)
c.4067G>T (p.Gly1356Val)
c.9332G>T (p.Gly3111Val)
n.9780G>T
6g.89695753C>GCA364989473MDN1n.323G>C
c.9623G>C (p.Gly3208Ala)
c.3608G>C (p.Gly1203Ala)
c.4067G>C (p.Gly1356Ala)
c.9332G>C (p.Gly3111Ala)
n.9780G>C
6g.89695753C>TCA364989475MDN1n.323G>A
c.9623G>A (p.Gly3208Glu)
c.3608G>A (p.Gly1203Glu)
c.4067G>A (p.Gly1356Glu)
c.9332G>A (p.Gly3111Glu)
n.9780G>A
6g.89695754C>ACA364989482MDN1n.322G>T
c.9622G>T (p.Gly3208Trp)
c.3607G>T (p.Gly1203Trp)
c.4066G>T (p.Gly1356Trp)
c.9331G>T (p.Gly3111Trp)
n.9779G>T
6g.89695754C>GCA364989478MDN1n.322G>C
c.9622G>C (p.Gly3208Arg)
c.3607G>C (p.Gly1203Arg)
c.4066G>C (p.Gly1356Arg)
c.9331G>C (p.Gly3111Arg)
n.9779G>C
6g.89695754C>TCA364989480MDN1n.322G>A
c.9622G>A (p.Gly3208Arg)
c.3607G>A (p.Gly1203Arg)
c.4066G>A (p.Gly1356Arg)
c.9331G>A (p.Gly3111Arg)
n.9779G>A

Number of alleles fetched