Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99896272_99896276dupCA1004941415AGLc.3260-14_3260-10dup (n.3260-14_3260-10dup)
n.3471-14_3471-10dup
c.3212-14_3212-10dup (n.3212-14_3212-10dup)
c.3209-14_3209-10dup (n.3209-14_3209-10dup)
c.1520-14_1520-10dup (n.1520-14_1520-10dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99896272_99896273delinsGTCA1183935251AGLc.3260-14_3260-13delinsGT (n.3260-14_3260-13delinsGT)
n.3471-14_3471-13delinsGT
c.3212-14_3212-13delinsGT (n.3212-14_3212-13delinsGT)
c.3209-14_3209-13delinsGT (n.3209-14_3209-13delinsGT)
c.1520-14_1520-13delinsGT (n.1520-14_1520-13delinsGT)
1g.99896273T>CCA2646738178AGLc.3260-13T>C (n.3260-13T>C)
n.3471-13T>C
c.3212-13T>C (n.3212-13T>C)
c.3209-13T>C (n.3209-13T>C)
c.1520-13T>C (n.1520-13T>C)
 gnomAD v4
1g.99896273T>GCA524709126AGLc.3260-13T>G (n.3260-13T>G)
n.3471-13T>G
c.3212-13T>G (n.3212-13T>G)
c.3209-13T>G (n.3209-13T>G)
c.1520-13T>G (n.1520-13T>G)
 dbSNP gnomAD v2
1g.99896273T=CA1183935253AGLc.3260-13T= (n.3260-13T=)
n.3471-13T=
c.3212-13T= (n.3212-13T=)
c.3209-13T= (n.3209-13T=)
c.1520-13T= (n.1520-13T=)
1g.99896280dupCA967033AGLc.3260-6dup (n.3260-6dup)
n.3471-6dup
c.3212-6dup (n.3212-6dup)
c.3209-6dup (n.3209-6dup)
c.1520-6dup (n.1520-6dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.99896279_99896280dupCA916245273AGLc.3260-7_3260-6dup (n.3260-7_3260-6dup)
n.3471-7_3471-6dup
c.3212-7_3212-6dup (n.3212-7_3212-6dup)
c.3209-7_3209-6dup (n.3209-7_3209-6dup)
c.1520-7_1520-6dup (n.1520-7_1520-6dup)
 dbSNP gnomAD v4
1g.99896280delCA524709125AGLc.3260-6del (n.3260-6del)
n.3471-6del
c.3212-6del (n.3212-6del)
c.3209-6del (n.3209-6del)
c.1520-6del (n.1520-6del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99896277T>CCA2499214941AGLc.3260-9T>C (n.3260-9T>C)
n.3471-9T>C
c.3212-9T>C (n.3212-9T>C)
c.3209-9T>C (n.3209-9T>C)
c.1520-9T>C (n.1520-9T>C)
 ClinVar dbSNP gnomAD v4
1g.99896277T>GCA2580063590AGLc.3260-9T>G (n.3260-9T>G)
n.3471-9T>G
c.3212-9T>G (n.3212-9T>G)
c.3209-9T>G (n.3209-9T>G)
c.1520-9T>G (n.1520-9T>G)
 ClinVar
1g.99896278T>CCA2739272716AGLc.3260-8T>C (n.3260-8T>C)
n.3471-8T>C
c.3212-8T>C (n.3212-8T>C)
c.3209-8T>C (n.3209-8T>C)
c.1520-8T>C (n.1520-8T>C)
 ClinVar
1g.99896280T>ACA524709127AGLc.3260-6T>A (n.3260-6T>A)
n.3471-6T>A
c.3212-6T>A (n.3212-6T>A)
c.3209-6T>A (n.3209-6T>A)
c.1520-6T>A (n.1520-6T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.99896280T>GCA27534435AGLc.3260-6T>G (n.3260-6T>G)
n.3471-6T>G
c.3212-6T>G (n.3212-6T>G)
c.3209-6T>G (n.3209-6T>G)
c.1520-6T>G (n.1520-6T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99896280T=CA1143529451AGLc.3260-6T= (n.3260-6T=)
n.3471-6T=
c.3212-6T= (n.3212-6T=)
c.3209-6T= (n.3209-6T=)
c.1520-6T= (n.1520-6T=)
1g.99896281G>ACA967036AGLc.3260-5G>A (n.3260-5G>A)
n.3471-5G>A
c.3212-5G>A (n.3212-5G>A)
c.3209-5G>A (n.3209-5G>A)
c.1520-5G>A (n.1520-5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896281G=CA1148419210AGLc.3260-5G= (n.3260-5G=)
n.3471-5G=
c.3212-5G= (n.3212-5G=)
c.3209-5G= (n.3209-5G=)
c.1520-5G= (n.1520-5G=)
1g.99896281G>TCA967035AGLc.3260-5G>T (n.3260-5G>T)
n.3471-5G>T
c.3212-5G>T (n.3212-5G>T)
c.3209-5G>T (n.3209-5G>T)
c.1520-5G>T (n.1520-5G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896283T>CCA27534438AGLc.3260-3T>C (n.3260-3T>C)
n.3471-3T>C
c.3212-3T>C (n.3212-3T>C)
c.3209-3T>C (n.3209-3T>C)
c.1520-3T>C (n.1520-3T>C)
 ClinVar dbSNP gnomAD v4
1g.99896283T=CA1183935254AGLc.3260-3T= (n.3260-3T=)
n.3471-3T=
c.3212-3T= (n.3212-3T=)
c.3209-3T= (n.3209-3T=)
c.1520-3T= (n.1520-3T=)
1g.99896284A=CA1183935255AGLc.3260-2A= (n.3260-2A=)
n.3471-2A=
c.3212-2A= (n.3212-2A=)
c.3209-2A= (n.3209-2A=)
c.1520-2A= (n.1520-2A=)
1g.99896284A>CCA341328308AGLc.3260-2A>C (n.3260-2A>C)
n.3471-2A>C
c.3212-2A>C (n.3212-2A>C)
c.3209-2A>C (n.3209-2A>C)
c.1520-2A>C (n.1520-2A>C)
1g.99896284A>GCA341328309AGLc.3260-2A>G (n.3260-2A>G)
n.3471-2A>G
c.3212-2A>G (n.3212-2A>G)
c.3209-2A>G (n.3209-2A>G)
c.1520-2A>G (n.1520-2A>G)
1g.99896284A>TCA967037AGLc.3260-2A>T (n.3260-2A>T)
n.3471-2A>T
c.3212-2A>T (n.3212-2A>T)
c.3209-2A>T (n.3209-2A>T)
c.1520-2A>T (n.1520-2A>T)
 ClinVar dbSNP ExAC gnomAD v4
1g.99896285G>ACA341328312AGLc.3260-1G>A (n.3260-1G>A)
n.3471-1G>A
c.3212-1G>A (n.3212-1G>A)
c.3209-1G>A (n.3209-1G>A)
c.1520-1G>A (n.1520-1G>A)
1g.99896285G>CCA341328310AGLc.3260-1G>C (n.3260-1G>C)
n.3471-1G>C
c.3212-1G>C (n.3212-1G>C)
c.3209-1G>C (n.3209-1G>C)
c.1520-1G>C (n.1520-1G>C)
1g.99896285G>TCA341328311AGLc.3260-1G>T (n.3260-1G>T)
n.3471-1G>T
c.3212-1G>T (n.3212-1G>T)
c.3209-1G>T (n.3209-1G>T)
c.1520-1G>T (n.1520-1G>T)
 gnomAD v4
1g.99896286G>ACA967038AGLc.3260G>A (p.Gly1087Asp)
n.3471G>A
c.3212G>A (p.Gly1071Asp)
c.3209G>A (p.Gly1070Asp)
c.1520G>A (p.Gly507Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896286G>CCA341328315AGLc.3260G>C (p.Gly1087Ala)
n.3471G>C
c.3212G>C (p.Gly1071Ala)
c.3209G>C (p.Gly1070Ala)
c.1520G>C (p.Gly507Ala)
1g.99896286G=CA1183935256AGLc.3260G= (p.Gly1087=)
n.3471G=
c.3212G= (p.Gly1071=)
c.3209G= (p.Gly1070=)
c.1520G= (p.Gly507=)
1g.99896286G>TCA341328316AGLc.3260G>T (p.Gly1087Val)
n.3471G>T
c.3212G>T (p.Gly1071Val)
c.3209G>T (p.Gly1070Val)
c.1520G>T (p.Gly507Val)
1g.99896287C>ACA419086976AGLc.3261C>A (p.Gly1087=)
n.3472C>A
c.3213C>A (p.Gly1071=)
c.3210C>A (p.Gly1070=)
c.1521C>A (p.Gly507=)
1g.99896287C>GCA419086978AGLc.3261C>G (p.Gly1087=)
n.3472C>G
c.3213C>G (p.Gly1071=)
c.3210C>G (p.Gly1070=)
c.1521C>G (p.Gly507=)
 gnomAD v4
1g.99896287C>TCA419086977AGLc.3261C>T (p.Gly1087=)
n.3472C>T
c.3213C>T (p.Gly1071=)
c.3210C>T (p.Gly1070=)
c.1521C>T (p.Gly507=)
1g.99896288T>ACA341328317AGLc.3262T>A (p.Leu1088Ile)
n.3473T>A
c.3214T>A (p.Leu1072Ile)
c.3211T>A (p.Leu1071Ile)
c.1522T>A (p.Leu508Ile)
1g.99896288T>CCA419086982AGLc.3262T>C (p.Leu1088=)
n.3473T>C
c.3214T>C (p.Leu1072=)
c.3211T>C (p.Leu1071=)
c.1522T>C (p.Leu508=)
1g.99896288T>GCA341328318AGLc.3262T>G (p.Leu1088Val)
n.3473T>G
c.3214T>G (p.Leu1072Val)
c.3211T>G (p.Leu1071Val)
c.1522T>G (p.Leu508Val)
1g.99896289T>ACA341328321AGLc.3263T>A (p.Leu1088Ter)
n.3474T>A
c.3215T>A (p.Leu1072Ter)
c.3212T>A (p.Leu1071Ter)
c.1523T>A (p.Leu508Ter)
1g.99896289T>CCA341328323AGLc.3263T>C (p.Leu1088Ser)
n.3474T>C
c.3215T>C (p.Leu1072Ser)
c.3212T>C (p.Leu1071Ser)
c.1523T>C (p.Leu508Ser)
1g.99896289T>GCA341328324AGLc.3263T>G (p.Leu1088Ter)
n.3474T>G
c.3215T>G (p.Leu1072Ter)
c.3212T>G (p.Leu1071Ter)
c.1523T>G (p.Leu508Ter)
1g.99896290A=CA1183935257AGLc.3264A= (p.Leu1088=)
n.3475A=
c.3216A= (p.Leu1072=)
c.3213A= (p.Leu1071=)
c.1524A= (p.Leu508=)
1g.99896290A>CCA341328325AGLc.3264A>C (p.Leu1088Phe)
n.3475A>C
c.3216A>C (p.Leu1072Phe)
c.3213A>C (p.Leu1071Phe)
c.1524A>C (p.Leu508Phe)
 gnomAD v4
1g.99896290A>GCA419086994AGLc.3264A>G (p.Leu1088=)
n.3475A>G
c.3216A>G (p.Leu1072=)
c.3213A>G (p.Leu1071=)
c.1524A>G (p.Leu508=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99896290A>TCA341328326AGLc.3264A>T (p.Leu1088Phe)
n.3475A>T
c.3216A>T (p.Leu1072Phe)
c.3213A>T (p.Leu1071Phe)
c.1524A>T (p.Leu508Phe)
1g.99896291C>ACA341328328AGLc.3265C>A (p.Pro1089Thr)
n.3476C>A
c.3217C>A (p.Pro1073Thr)
c.3214C>A (p.Pro1072Thr)
c.1525C>A (p.Pro509Thr)
1g.99896291C>GCA341328329AGLc.3265C>G (p.Pro1089Ala)
n.3476C>G
c.3217C>G (p.Pro1073Ala)
c.3214C>G (p.Pro1072Ala)
c.1525C>G (p.Pro509Ala)
1g.99896291C>TCA341328331AGLc.3265C>T (p.Pro1089Ser)
n.3476C>T
c.3217C>T (p.Pro1073Ser)
c.3214C>T (p.Pro1072Ser)
c.1525C>T (p.Pro509Ser)
 gnomAD v4
1g.99896292C>ACA341328334AGLc.3266C>A (p.Pro1089His)
n.3477C>A
c.3218C>A (p.Pro1073His)
c.3215C>A (p.Pro1072His)
c.1526C>A (p.Pro509His)
1g.99896292C=CA1183935258AGLc.3266C= (p.Pro1089=)
n.3477C=
c.3218C= (p.Pro1073=)
c.3215C= (p.Pro1072=)
c.1526C= (p.Pro509=)
1g.99896292C>GCA341328339AGLc.3266C>G (p.Pro1089Arg)
n.3477C>G
c.3218C>G (p.Pro1073Arg)
c.3215C>G (p.Pro1072Arg)
c.1526C>G (p.Pro509Arg)
1g.99896292C>TCA341328337AGLc.3266C>T (p.Pro1089Leu)
n.3477C>T
c.3218C>T (p.Pro1073Leu)
c.3215C>T (p.Pro1072Leu)
c.1526C>T (p.Pro509Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.99896293T>ACA419087015AGLc.3267T>A (p.Pro1089=)
n.3478T>A
c.3219T>A (p.Pro1073=)
c.3216T>A (p.Pro1072=)
c.1527T>A (p.Pro509=)
1g.99896293T>CCA419087010AGLc.3267T>C (p.Pro1089=)
n.3478T>C
c.3219T>C (p.Pro1073=)
c.3216T>C (p.Pro1072=)
c.1527T>C (p.Pro509=)
1g.99896293T>GCA419087013AGLc.3267T>G (p.Pro1089=)
n.3478T>G
c.3219T>G (p.Pro1073=)
c.3216T>G (p.Pro1072=)
c.1527T>G (p.Pro509=)
1g.99896294C>ACA341328340AGLc.3268C>A (p.His1090Asn)
n.3479C>A
c.3220C>A (p.His1074Asn)
c.3217C>A (p.His1073Asn)
c.1528C>A (p.His510Asn)
1g.99896294C>GCA341328341AGLc.3268C>G (p.His1090Asp)
n.3479C>G
c.3220C>G (p.His1074Asp)
c.3217C>G (p.His1073Asp)
c.1528C>G (p.His510Asp)
 gnomAD v4
1g.99896294C>TCA341328342AGLc.3268C>T (p.His1090Tyr)
n.3479C>T
c.3220C>T (p.His1074Tyr)
c.3217C>T (p.His1073Tyr)
c.1528C>T (p.His510Tyr)
 gnomAD v4
1g.99896295A=CA1183935259AGLc.3269A= (p.His1090=)
n.3480A=
c.3221A= (p.His1074=)
c.3218A= (p.His1073=)
c.1529A= (p.His510=)
1g.99896295A>CCA341328345AGLc.3269A>C (p.His1090Pro)
n.3480A>C
c.3221A>C (p.His1074Pro)
c.3218A>C (p.His1073Pro)
c.1529A>C (p.His510Pro)
1g.99896295A>GCA341328347AGLc.3269A>G (p.His1090Arg)
n.3480A>G
c.3221A>G (p.His1074Arg)
c.3218A>G (p.His1073Arg)
c.1529A>G (p.His510Arg)
 dbSNP
1g.99896295A>TCA341328351AGLc.3269A>T (p.His1090Leu)
n.3480A>T
c.3221A>T (p.His1074Leu)
c.3218A>T (p.His1073Leu)
c.1529A>T (p.His510Leu)
1g.99896296T>ACA341328354AGLc.3270T>A (p.His1090Gln)
n.3481T>A
c.3222T>A (p.His1074Gln)
c.3219T>A (p.His1073Gln)
c.1530T>A (p.His510Gln)
1g.99896296T>CCA419087023AGLc.3270T>C (p.His1090=)
n.3481T>C
c.3222T>C (p.His1074=)
c.3219T>C (p.His1073=)
c.1530T>C (p.His510=)
 ClinVar
1g.99896296T>GCA341328357AGLc.3270T>G (p.His1090Gln)
n.3481T>G
c.3222T>G (p.His1074Gln)
c.3219T>G (p.His1073Gln)
c.1530T>G (p.His510Gln)
1g.99896297T>ACA341328359AGLc.3271T>A (p.Phe1091Ile)
n.3482T>A
c.3223T>A (p.Phe1075Ile)
c.3220T>A (p.Phe1074Ile)
c.1531T>A (p.Phe511Ile)
1g.99896297T>CCA341328361AGLc.3271T>C (p.Phe1091Leu)
n.3482T>C
c.3223T>C (p.Phe1075Leu)
c.3220T>C (p.Phe1074Leu)
c.1531T>C (p.Phe511Leu)
1g.99896297T>GCA341328363AGLc.3271T>G (p.Phe1091Val)
n.3482T>G
c.3223T>G (p.Phe1075Val)
c.3220T>G (p.Phe1074Val)
c.1531T>G (p.Phe511Val)
1g.99896298T>ACA341328364AGLc.3272T>A (p.Phe1091Tyr)
n.3483T>A
c.3224T>A (p.Phe1075Tyr)
c.3221T>A (p.Phe1074Tyr)
c.1532T>A (p.Phe511Tyr)
1g.99896298T>CCA341328367AGLc.3272T>C (p.Phe1091Ser)
n.3483T>C
c.3224T>C (p.Phe1075Ser)
c.3221T>C (p.Phe1074Ser)
c.1532T>C (p.Phe511Ser)
1g.99896298T>GCA341328369AGLc.3272T>G (p.Phe1091Cys)
n.3483T>G
c.3224T>G (p.Phe1075Cys)
c.3221T>G (p.Phe1074Cys)
c.1532T>G (p.Phe511Cys)
1g.99896299T>ACA341328371AGLc.3273T>A (p.Phe1091Leu)
n.3484T>A
c.3225T>A (p.Phe1075Leu)
c.3222T>A (p.Phe1074Leu)
c.1533T>A (p.Phe511Leu)
1g.99896299T>CCA419087032AGLc.3273T>C (p.Phe1091=)
n.3484T>C
c.3225T>C (p.Phe1075=)
c.3222T>C (p.Phe1074=)
c.1533T>C (p.Phe511=)
 dbSNP gnomAD v2 gnomAD v4
1g.99896299T>GCA341328373AGLc.3273T>G (p.Phe1091Leu)
n.3484T>G
c.3225T>G (p.Phe1075Leu)
c.3222T>G (p.Phe1074Leu)
c.1533T>G (p.Phe511Leu)
1g.99896299T=CA1183935260AGLc.3273T= (p.Phe1091=)
n.3484T=
c.3225T= (p.Phe1075=)
c.3222T= (p.Phe1074=)
c.1533T= (p.Phe511=)
1g.99896300T>ACA341328376AGLc.3274T>A (p.Ser1092Thr)
n.3485T>A
c.3226T>A (p.Ser1076Thr)
c.3223T>A (p.Ser1075Thr)
c.1534T>A (p.Ser512Thr)
1g.99896300T>CCA341328384AGLc.3274T>C (p.Ser1092Pro)
n.3485T>C
c.3226T>C (p.Ser1076Pro)
c.3223T>C (p.Ser1075Pro)
c.1534T>C (p.Ser512Pro)
1g.99896300T>GCA341328387AGLc.3274T>G (p.Ser1092Ala)
n.3485T>G
c.3226T>G (p.Ser1076Ala)
c.3223T>G (p.Ser1075Ala)
c.1534T>G (p.Ser512Ala)
1g.99896301C>ACA341328391AGLc.3275C>A (p.Ser1092Tyr)
n.3486C>A
c.3227C>A (p.Ser1076Tyr)
c.3224C>A (p.Ser1075Tyr)
c.1535C>A (p.Ser512Tyr)
1g.99896301C>GCA341328393AGLc.3275C>G (p.Ser1092Cys)
n.3486C>G
c.3227C>G (p.Ser1076Cys)
c.3224C>G (p.Ser1075Cys)
c.1535C>G (p.Ser512Cys)
1g.99896301C>TCA341328396AGLc.3275C>T (p.Ser1092Phe)
n.3486C>T
c.3227C>T (p.Ser1076Phe)
c.3224C>T (p.Ser1075Phe)
c.1535C>T (p.Ser512Phe)
1g.99896302T>ACA419087050AGLc.3276T>A (p.Ser1092=)
n.3487T>A
c.3228T>A (p.Ser1076=)
c.3225T>A (p.Ser1075=)
c.1536T>A (p.Ser512=)
1g.99896302T>CCA419087053AGLc.3276T>C (p.Ser1092=)
n.3487T>C
c.3228T>C (p.Ser1076=)
c.3225T>C (p.Ser1075=)
c.1536T>C (p.Ser512=)
 ClinVar dbSNP
1g.99896302T>GCA419087055AGLc.3276T>G (p.Ser1092=)
n.3487T>G
c.3228T>G (p.Ser1076=)
c.3225T>G (p.Ser1075=)
c.1536T>G (p.Ser512=)
1g.99896303T>ACA341328400AGLc.3277T>A (p.Ser1093Thr)
n.3488T>A
c.3229T>A (p.Ser1077Thr)
c.3226T>A (p.Ser1076Thr)
c.1537T>A (p.Ser513Thr)
1g.99896303T>CCA341328402AGLc.3277T>C (p.Ser1093Pro)
n.3488T>C
c.3229T>C (p.Ser1077Pro)
c.3226T>C (p.Ser1076Pro)
c.1537T>C (p.Ser513Pro)
1g.99896303T>GCA341328405AGLc.3277T>G (p.Ser1093Ala)
n.3488T>G
c.3229T>G (p.Ser1077Ala)
c.3226T>G (p.Ser1076Ala)
c.1537T>G (p.Ser513Ala)
1g.99896303_99896304delinsTCCA1183935261AGLc.3277_3278delinsTC (p.Ser1093=)
n.3488_3489delinsTC
c.3229_3230delinsTC (p.Ser1077=)
c.3226_3227delinsTC (p.Ser1076=)
c.1537_1538delinsTC (p.Ser513=)
1g.99896304delCA1183935263AGLc.3278del (p.Ser1093LeufsTer20)
n.3489del
c.3230del (p.Ser1077LeufsTer20)
c.3227del (p.Ser1076LeufsTer20)
c.1538del (p.Ser513LeufsTer20)
 dbSNP
1g.99896304C>ACA341328410AGLc.3278C>A (p.Ser1093Tyr)
n.3489C>A
c.3230C>A (p.Ser1077Tyr)
c.3227C>A (p.Ser1076Tyr)
c.1538C>A (p.Ser513Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99896304C=CA1183935262AGLc.3278C= (p.Ser1093=)
n.3489C=
c.3230C= (p.Ser1077=)
c.3227C= (p.Ser1076=)
c.1538C= (p.Ser513=)
1g.99896304C>GCA341328413AGLc.3278C>G (p.Ser1093Cys)
n.3489C>G
c.3230C>G (p.Ser1077Cys)
c.3227C>G (p.Ser1076Cys)
c.1538C>G (p.Ser513Cys)
1g.99896304C>TCA341328414AGLc.3278C>T (p.Ser1093Phe)
n.3489C>T
c.3230C>T (p.Ser1077Phe)
c.3227C>T (p.Ser1076Phe)
c.1538C>T (p.Ser513Phe)
1g.99896305delCA645538193AGLc.3279del (p.Gly1094ValfsTer19)
n.3490del
c.3231del (p.Gly1078ValfsTer19)
c.3228del (p.Gly1077ValfsTer19)
c.1539del (p.Gly514ValfsTer19)
 COSMIC COSMIC
1g.99896305T>ACA419087066AGLc.3279T>A (p.Ser1093=)
n.3490T>A
c.3231T>A (p.Ser1077=)
c.3228T>A (p.Ser1076=)
c.1539T>A (p.Ser513=)
1g.99896305T>CCA419087068AGLc.3279T>C (p.Ser1093=)
n.3490T>C
c.3231T>C (p.Ser1077=)
c.3228T>C (p.Ser1076=)
c.1539T>C (p.Ser513=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99896305T>GCA27534447AGLc.3279T>G (p.Ser1093=)
n.3490T>G
c.3231T>G (p.Ser1077=)
c.3228T>G (p.Ser1076=)
c.1539T>G (p.Ser513=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99896305T=CA1183935264AGLc.3279T= (p.Ser1093=)
n.3490T=
c.3231T= (p.Ser1077=)
c.3228T= (p.Ser1076=)
c.1539T= (p.Ser513=)
1g.99896306G>ACA341328415AGLc.3280G>A (p.Gly1094Ser)
n.3491G>A
c.3232G>A (p.Gly1078Ser)
c.3229G>A (p.Gly1077Ser)
c.1540G>A (p.Gly514Ser)
1g.99896306G>CCA341328418AGLc.3280G>C (p.Gly1094Arg)
n.3491G>C
c.3232G>C (p.Gly1078Arg)
c.3229G>C (p.Gly1077Arg)
c.1540G>C (p.Gly514Arg)
1g.99896306G>TCA341328416AGLc.3280G>T (p.Gly1094Cys)
n.3491G>T
c.3232G>T (p.Gly1078Cys)
c.3229G>T (p.Gly1077Cys)
c.1540G>T (p.Gly514Cys)
1g.99896307G>ACA341328427AGLc.3281G>A (p.Gly1094Asp)
n.3492G>A
c.3233G>A (p.Gly1078Asp)
c.3230G>A (p.Gly1077Asp)
c.1541G>A (p.Gly514Asp)
1g.99896307G>CCA341328431AGLc.3281G>C (p.Gly1094Ala)
n.3492G>C
c.3233G>C (p.Gly1078Ala)
c.3230G>C (p.Gly1077Ala)
c.1541G>C (p.Gly514Ala)
1g.99896307G=CA1183935265AGLc.3281G= (p.Gly1094=)
n.3492G=
c.3233G= (p.Gly1078=)
c.3230G= (p.Gly1077=)
c.1541G= (p.Gly514=)
1g.99896307G>TCA967039AGLc.3281G>T (p.Gly1094Val)
n.3492G>T
c.3233G>T (p.Gly1078Val)
c.3230G>T (p.Gly1077Val)
c.1541G>T (p.Gly514Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896308T>ACA419087079AGLc.3282T>A (p.Gly1094=)
n.3493T>A
c.3234T>A (p.Gly1078=)
c.3231T>A (p.Gly1077=)
c.1542T>A (p.Gly514=)
1g.99896308T>CCA967040AGLc.3282T>C (p.Gly1094=)
n.3493T>C
c.3234T>C (p.Gly1078=)
c.3231T>C (p.Gly1077=)
c.1542T>C (p.Gly514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896308T>GCA419087083AGLc.3282T>G (p.Gly1094=)
n.3493T>G
c.3234T>G (p.Gly1078=)
c.3231T>G (p.Gly1077=)
c.1542T>G (p.Gly514=)
1g.99896308T=CA1183935266AGLc.3282T= (p.Gly1094=)
n.3493T=
c.3234T= (p.Gly1078=)
c.3231T= (p.Gly1077=)
c.1542T= (p.Gly514=)
1g.99896309A=CA1183935267AGLc.3283A= (p.Ile1095=)
n.3494A=
c.3235A= (p.Ile1079=)
c.3232A= (p.Ile1078=)
c.1543A= (p.Ile515=)
1g.99896309A>CCA967041AGLc.3283A>C (p.Ile1095Leu)
n.3494A>C
c.3235A>C (p.Ile1079Leu)
c.3232A>C (p.Ile1078Leu)
c.1543A>C (p.Ile515Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896309A>GCA341328434AGLc.3283A>G (p.Ile1095Val)
n.3494A>G
c.3235A>G (p.Ile1079Val)
c.3232A>G (p.Ile1078Val)
c.1543A>G (p.Ile515Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99896309A>TCA341328436AGLc.3283A>T (p.Ile1095Phe)
n.3494A>T
c.3235A>T (p.Ile1079Phe)
c.3232A>T (p.Ile1078Phe)
c.1543A>T (p.Ile515Phe)
1g.99896310T>ACA341328438AGLc.3284T>A (p.Ile1095Asn)
n.3495T>A
c.3236T>A (p.Ile1079Asn)
c.3233T>A (p.Ile1078Asn)
c.1544T>A (p.Ile515Asn)
1g.99896310T>CCA341328441AGLc.3284T>C (p.Ile1095Thr)
n.3495T>C
c.3236T>C (p.Ile1079Thr)
c.3233T>C (p.Ile1078Thr)
c.1544T>C (p.Ile515Thr)
1g.99896310T>GCA341328455AGLc.3284T>G (p.Ile1095Ser)
n.3495T>G
c.3236T>G (p.Ile1079Ser)
c.3233T>G (p.Ile1078Ser)
c.1544T>G (p.Ile515Ser)
1g.99896313dupCA2586967150AGLc.3287dup (p.Arg1097ProfsTer12)
n.3498dup
c.3239dup (p.Arg1081ProfsTer12)
c.3236dup (p.Arg1080ProfsTer12)
c.1547dup (p.Arg517ProfsTer12)
 ClinVar gnomAD v4
1g.99896311T>ACA419087092AGLc.3285T>A (p.Ile1095=)
n.3496T>A
c.3237T>A (p.Ile1079=)
c.3234T>A (p.Ile1078=)
c.1545T>A (p.Ile515=)
1g.99896311T>CCA27534472AGLc.3285T>C (p.Ile1095=)
n.3496T>C
c.3237T>C (p.Ile1079=)
c.3234T>C (p.Ile1078=)
c.1545T>C (p.Ile515=)
 dbSNP gnomAD v3 gnomAD v4
1g.99896311T>GCA341328462AGLc.3285T>G (p.Ile1095Met)
n.3496T>G
c.3237T>G (p.Ile1079Met)
c.3234T>G (p.Ile1078Met)
c.1545T>G (p.Ile515Met)
1g.99896311T=CA1183935268AGLc.3285T= (p.Ile1095=)
n.3496T=
c.3237T= (p.Ile1079=)
c.3234T= (p.Ile1078=)
c.1545T= (p.Ile515=)
1g.99896312T>ACA341328463AGLc.3286T>A (p.Phe1096Ile)
n.3497T>A
c.3238T>A (p.Phe1080Ile)
c.3235T>A (p.Phe1079Ile)
c.1546T>A (p.Phe516Ile)
1g.99896312T>CCA341328464AGLc.3286T>C (p.Phe1096Leu)
n.3497T>C
c.3238T>C (p.Phe1080Leu)
c.3235T>C (p.Phe1079Leu)
c.1546T>C (p.Phe516Leu)
1g.99896312T>GCA341328465AGLc.3286T>G (p.Phe1096Val)
n.3497T>G
c.3238T>G (p.Phe1080Val)
c.3235T>G (p.Phe1079Val)
c.1546T>G (p.Phe516Val)
1g.99896313T>ACA341328471AGLc.3287T>A (p.Phe1096Tyr)
n.3498T>A
c.3239T>A (p.Phe1080Tyr)
c.3236T>A (p.Phe1079Tyr)
c.1547T>A (p.Phe516Tyr)
1g.99896313T>CCA341328469AGLc.3287T>C (p.Phe1096Ser)
n.3498T>C
c.3239T>C (p.Phe1080Ser)
c.3236T>C (p.Phe1079Ser)
c.1547T>C (p.Phe516Ser)
1g.99896313T>GCA341328466AGLc.3287T>G (p.Phe1096Cys)
n.3498T>G
c.3239T>G (p.Phe1080Cys)
c.3236T>G (p.Phe1079Cys)
c.1547T>G (p.Phe516Cys)
1g.99896314C>ACA341328474AGLc.3288C>A (p.Phe1096Leu)
n.3499C>A
c.3240C>A (p.Phe1080Leu)
c.3237C>A (p.Phe1079Leu)
c.1548C>A (p.Phe516Leu)
1g.99896314C>GCA341328478AGLc.3288C>G (p.Phe1096Leu)
n.3499C>G
c.3240C>G (p.Phe1080Leu)
c.3237C>G (p.Phe1079Leu)
c.1548C>G (p.Phe516Leu)
1g.99896314C>TCA419087109AGLc.3288C>T (p.Phe1096=)
n.3499C>T
c.3240C>T (p.Phe1080=)
c.3237C>T (p.Phe1079=)
c.1548C>T (p.Phe516=)
 COSMIC
1g.99896315C>ACA341328482AGLc.3289C>A (p.Arg1097Ser)
n.3500C>A
c.3241C>A (p.Arg1081Ser)
c.3238C>A (p.Arg1080Ser)
c.1549C>A (p.Arg517Ser)
1g.99896315C=CA1183935269AGLc.3289C= (p.Arg1097=)
n.3500C=
c.3241C= (p.Arg1081=)
c.3238C= (p.Arg1080=)
c.1549C= (p.Arg517=)
1g.99896315C>GCA341328484AGLc.3289C>G (p.Arg1097Gly)
n.3500C>G
c.3241C>G (p.Arg1081Gly)
c.3238C>G (p.Arg1080Gly)
c.1549C>G (p.Arg517Gly)
1g.99896315C>TCA967042AGLc.3289C>T (p.Arg1097Cys)
n.3500C>T
c.3241C>T (p.Arg1081Cys)
c.3238C>T (p.Arg1080Cys)
c.1549C>T (p.Arg517Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99896316G>ACA967043AGLc.3290G>A (p.Arg1097His)
n.3501G>A
c.3242G>A (p.Arg1081His)
c.3239G>A (p.Arg1080His)
c.1550G>A (p.Arg517His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99896316G>CCA341328491AGLc.3290G>C (p.Arg1097Pro)
n.3501G>C
c.3242G>C (p.Arg1081Pro)
c.3239G>C (p.Arg1080Pro)
c.1550G>C (p.Arg517Pro)
1g.99896316G=CA1142811697AGLc.3290G= (p.Arg1097=)
n.3501G=
c.3242G= (p.Arg1081=)
c.3239G= (p.Arg1080=)
c.1550G= (p.Arg517=)
1g.99896316G>TCA341328495AGLc.3290G>T (p.Arg1097Leu)
n.3501G>T
c.3242G>T (p.Arg1081Leu)
c.3239G>T (p.Arg1080Leu)
c.1550G>T (p.Arg517Leu)
1g.99896317C>ACA419087120AGLc.3291C>A (p.Arg1097=)
n.3502C>A
c.3243C>A (p.Arg1081=)
c.3240C>A (p.Arg1080=)
c.1551C>A (p.Arg517=)
1g.99896317C=CA1183935270AGLc.3291C= (p.Arg1097=)
n.3502C=
c.3243C= (p.Arg1081=)
c.3240C= (p.Arg1080=)
c.1551C= (p.Arg517=)
1g.99896317C>GCA419087123AGLc.3291C>G (p.Arg1097=)
n.3502C>G
c.3243C>G (p.Arg1081=)
c.3240C>G (p.Arg1080=)
c.1551C>G (p.Arg517=)
1g.99896317C>TCA419087125AGLc.3291C>T (p.Arg1097=)
n.3502C>T
c.3243C>T (p.Arg1081=)
c.3240C>T (p.Arg1080=)
c.1551C>T (p.Arg517=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99896318T>ACA341328501AGLc.3292T>A (p.Cys1098Ser)
n.3503T>A
c.3244T>A (p.Cys1082Ser)
c.3241T>A (p.Cys1081Ser)
c.1552T>A (p.Cys518Ser)
1g.99896318T>CCA341328504AGLc.3292T>C (p.Cys1098Arg)
n.3503T>C
c.3244T>C (p.Cys1082Arg)
c.3241T>C (p.Cys1081Arg)
c.1552T>C (p.Cys518Arg)
 gnomAD v4
1g.99896318T>GCA341328509AGLc.3292T>G (p.Cys1098Gly)
n.3503T>G
c.3244T>G (p.Cys1082Gly)
c.3241T>G (p.Cys1081Gly)
c.1552T>G (p.Cys518Gly)
1g.99896319G>ACA341328515AGLc.3293G>A (p.Cys1098Tyr)
n.3504G>A
c.3245G>A (p.Cys1082Tyr)
c.3242G>A (p.Cys1081Tyr)
c.1553G>A (p.Cys518Tyr)
1g.99896319G>CCA341328513AGLc.3293G>C (p.Cys1098Ser)
n.3504G>C
c.3245G>C (p.Cys1082Ser)
c.3242G>C (p.Cys1081Ser)
c.1553G>C (p.Cys518Ser)
1g.99896319G=CA1183935271AGLc.3293G= (p.Cys1098=)
n.3504G=
c.3245G= (p.Cys1082=)
c.3242G= (p.Cys1081=)
c.1553G= (p.Cys518=)
1g.99896319G>TCA967044AGLc.3293G>T (p.Cys1098Phe)
n.3504G>T
c.3245G>T (p.Cys1082Phe)
c.3242G>T (p.Cys1081Phe)
c.1553G>T (p.Cys518Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99896320C>ACA341328517AGLc.3294C>A (p.Cys1098Ter)
n.3505C>A
c.3246C>A (p.Cys1082Ter)
c.3243C>A (p.Cys1081Ter)
c.1554C>A (p.Cys518Ter)
1g.99896320C=CA1183935272AGLc.3294C= (p.Cys1098=)
n.3505C=
c.3246C= (p.Cys1082=)
c.3243C= (p.Cys1081=)
c.1554C= (p.Cys518=)
1g.99896320C>GCA341328520AGLc.3294C>G (p.Cys1098Trp)
n.3505C>G
c.3246C>G (p.Cys1082Trp)
c.3243C>G (p.Cys1081Trp)
c.1554C>G (p.Cys518Trp)
1g.99896320C>TCA419087135AGLc.3294C>T (p.Cys1098=)
n.3505C>T
c.3246C>T (p.Cys1082=)
c.3243C>T (p.Cys1081=)
c.1554C>T (p.Cys518=)
 dbSNP gnomAD v3 gnomAD v4
1g.99896321T>ACA341328525AGLc.3295T>A (p.Trp1099Arg)
n.3506T>A
c.3247T>A (p.Trp1083Arg)
c.3244T>A (p.Trp1082Arg)
c.1555T>A (p.Trp519Arg)
1g.99896321T>CCA341328529AGLc.3295T>C (p.Trp1099Arg)
n.3506T>C
c.3247T>C (p.Trp1083Arg)
c.3244T>C (p.Trp1082Arg)
c.1555T>C (p.Trp519Arg)
1g.99896321T>GCA341328533AGLc.3295T>G (p.Trp1099Gly)
n.3506T>G
c.3247T>G (p.Trp1083Gly)
c.3244T>G (p.Trp1082Gly)
c.1555T>G (p.Trp519Gly)
1g.99896322G>ACA341328537AGLc.3296G>A (p.Trp1099Ter)
n.3507G>A
c.3248G>A (p.Trp1083Ter)
c.3245G>A (p.Trp1082Ter)
c.1556G>A (p.Trp519Ter)
 COSMIC
1g.99896322G>CCA341328536AGLc.3296G>C (p.Trp1099Ser)
n.3507G>C
c.3248G>C (p.Trp1083Ser)
c.3245G>C (p.Trp1082Ser)
c.1556G>C (p.Trp519Ser)
 gnomAD v4
1g.99896322G>TCA341328535AGLc.3296G>T (p.Trp1099Leu)
n.3507G>T
c.3248G>T (p.Trp1083Leu)
c.3245G>T (p.Trp1082Leu)
c.1556G>T (p.Trp519Leu)
 gnomAD v4
1g.99896325delCA2574444632AGLc.3299del (p.Gly1100GlufsTer13)
n.3510del
c.3251del (p.Gly1084GlufsTer13)
c.3248del (p.Gly1083GlufsTer13)
c.1559del (p.Gly520GlufsTer13)
 ClinVar gnomAD v4
1g.99896323G>ACA273998AGLc.3297G>A (p.Trp1099Ter)
n.3508G>A
c.3249G>A (p.Trp1083Ter)
c.3246G>A (p.Trp1082Ter)
c.1557G>A (p.Trp519Ter)
 ClinVar dbSNP COSMIC
1g.99896323G>CCA341328538AGLc.3297G>C (p.Trp1099Cys)
n.3508G>C
c.3249G>C (p.Trp1083Cys)
c.3246G>C (p.Trp1082Cys)
c.1557G>C (p.Trp519Cys)
1g.99896323G=CA1183935273AGLc.3297G= (p.Trp1099=)
n.3508G=
c.3249G= (p.Trp1083=)
c.3246G= (p.Trp1082=)
c.1557G= (p.Trp519=)
1g.99896323G>TCA341328539AGLc.3297G>T (p.Trp1099Cys)
n.3508G>T
c.3249G>T (p.Trp1083Cys)
c.3246G>T (p.Trp1082Cys)
c.1557G>T (p.Trp519Cys)
1g.99896324G>ACA341328541AGLc.3298G>A (p.Gly1100Arg)
n.3509G>A
c.3250G>A (p.Gly1084Arg)
c.3247G>A (p.Gly1083Arg)
c.1558G>A (p.Gly520Arg)
 gnomAD v4
1g.99896324G>CCA341328544AGLc.3298G>C (p.Gly1100Arg)
n.3509G>C
c.3250G>C (p.Gly1084Arg)
c.3247G>C (p.Gly1083Arg)
c.1558G>C (p.Gly520Arg)
1g.99896324G>TCA341328549AGLc.3298G>T (p.Gly1100Ter)
n.3509G>T
c.3250G>T (p.Gly1084Ter)
c.3247G>T (p.Gly1083Ter)
c.1558G>T (p.Gly520Ter)
1g.99896325G>ACA341328552AGLc.3299G>A (p.Gly1100Glu)
n.3510G>A
c.3251G>A (p.Gly1084Glu)
c.3248G>A (p.Gly1083Glu)
c.1559G>A (p.Gly520Glu)
 ClinVar
1g.99896325G>CCA341328554AGLc.3299G>C (p.Gly1100Ala)
n.3510G>C
c.3251G>C (p.Gly1084Ala)
c.3248G>C (p.Gly1083Ala)
c.1559G>C (p.Gly520Ala)
1g.99896325G>TCA341328553AGLc.3299G>T (p.Gly1100Val)
n.3510G>T
c.3251G>T (p.Gly1084Val)
c.3248G>T (p.Gly1083Val)
c.1559G>T (p.Gly520Val)
1g.99896326A>CCA419087159AGLc.3300A>C (p.Gly1100=)
n.3511A>C
c.3252A>C (p.Gly1084=)
c.3249A>C (p.Gly1083=)
c.1560A>C (p.Gly520=)
 ClinVar dbSNP gnomAD v4
1g.99896326A>GCA419087161AGLc.3300A>G (p.Gly1100=)
n.3511A>G
c.3252A>G (p.Gly1084=)
c.3249A>G (p.Gly1083=)
c.1560A>G (p.Gly520=)
1g.99896326A>TCA419087162AGLc.3300A>T (p.Gly1100=)
n.3511A>T
c.3252A>T (p.Gly1084=)
c.3249A>T (p.Gly1083=)
c.1560A>T (p.Gly520=)
 gnomAD v4
1g.99896327A>CCA419087165AGLc.3301A>C (p.Arg1101=)
n.3512A>C
c.3253A>C (p.Arg1085=)
c.3250A>C (p.Arg1084=)
c.1561A>C (p.Arg521=)
1g.99896327A>GCA341328555AGLc.3301A>G (p.Arg1101Gly)
n.3512A>G
c.3253A>G (p.Arg1085Gly)
c.3250A>G (p.Arg1084Gly)
c.1561A>G (p.Arg521Gly)
 gnomAD v4
1g.99896327A>TCA341328556AGLc.3301A>T (p.Arg1101Trp)
n.3512A>T
c.3253A>T (p.Arg1085Trp)
c.3250A>T (p.Arg1084Trp)
c.1561A>T (p.Arg521Trp)
1g.99896328G>ACA341328557AGLc.3302G>A (p.Arg1101Lys)
n.3513G>A
c.3254G>A (p.Arg1085Lys)
c.3251G>A (p.Arg1084Lys)
c.1562G>A (p.Arg521Lys)
 ClinVar
1g.99896328G>CCA341328558AGLc.3302G>C (p.Arg1101Thr)
n.3513G>C
c.3254G>C (p.Arg1085Thr)
c.3251G>C (p.Arg1084Thr)
c.1562G>C (p.Arg521Thr)
1g.99896328G>TCA341328561AGLc.3302G>T (p.Arg1101Met)
n.3513G>T
c.3254G>T (p.Arg1085Met)
c.3251G>T (p.Arg1084Met)
c.1562G>T (p.Arg521Met)
1g.99896329G>ACA419087174AGLc.3303G>A (p.Arg1101=)
n.3514G>A
c.3255G>A (p.Arg1085=)
c.3252G>A (p.Arg1084=)
c.1563G>A (p.Arg521=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99896329G>CCA341328564AGLc.3303G>C (p.Arg1101Ser)
n.3514G>C
c.3255G>C (p.Arg1085Ser)
c.3252G>C (p.Arg1084Ser)
c.1563G>C (p.Arg521Ser)
1g.99896329G=CA1183935274AGLc.3303G= (p.Arg1101=)
n.3514G=
c.3255G= (p.Arg1085=)
c.3252G= (p.Arg1084=)
c.1563G= (p.Arg521=)
1g.99896329G>TCA341328565AGLc.3303G>T (p.Arg1101Ser)
n.3514G>T
c.3255G>T (p.Arg1085Ser)
c.3252G>T (p.Arg1084Ser)
c.1563G>T (p.Arg521Ser)
1g.99896330G>ACA341328568AGLc.3304G>A (p.Asp1102Asn)
n.3515G>A
c.3256G>A (p.Asp1086Asn)
c.3253G>A (p.Asp1085Asn)
c.1564G>A (p.Asp522Asn)
1g.99896330G>CCA341328571AGLc.3304G>C (p.Asp1102His)
n.3515G>C
c.3256G>C (p.Asp1086His)
c.3253G>C (p.Asp1085His)
c.1564G>C (p.Asp522His)
1g.99896330G>TCA341328573AGLc.3304G>T (p.Asp1102Tyr)
n.3515G>T
c.3256G>T (p.Asp1086Tyr)
c.3253G>T (p.Asp1085Tyr)
c.1564G>T (p.Asp522Tyr)
 gnomAD v4
1g.99896331A=CA1183935275AGLc.3305A= (p.Asp1102=)
n.3516A=
c.3257A= (p.Asp1086=)
c.3254A= (p.Asp1085=)
c.1565A= (p.Asp522=)
1g.99896331A>CCA341328584AGLc.3305A>C (p.Asp1102Ala)
n.3516A>C
c.3257A>C (p.Asp1086Ala)
c.3254A>C (p.Asp1085Ala)
c.1565A>C (p.Asp522Ala)
1g.99896331A>GCA341328582AGLc.3305A>G (p.Asp1102Gly)
n.3516A>G
c.3257A>G (p.Asp1086Gly)
c.3254A>G (p.Asp1085Gly)
c.1565A>G (p.Asp522Gly)
 dbSNP
1g.99896331A>TCA341328579AGLc.3305A>T (p.Asp1102Val)
n.3516A>T
c.3257A>T (p.Asp1086Val)
c.3254A>T (p.Asp1085Val)
c.1565A>T (p.Asp522Val)
1g.99896332T>ACA341328597AGLc.3306T>A (p.Asp1102Glu)
n.3517T>A
c.3258T>A (p.Asp1086Glu)
c.3255T>A (p.Asp1085Glu)
c.1566T>A (p.Asp522Glu)
1g.99896332T>CCA419087188AGLc.3306T>C (p.Asp1102=)
n.3517T>C
c.3258T>C (p.Asp1086=)
c.3255T>C (p.Asp1085=)
c.1566T>C (p.Asp522=)
1g.99896332T>GCA341328604AGLc.3306T>G (p.Asp1102Glu)
n.3517T>G
c.3258T>G (p.Asp1086Glu)
c.3255T>G (p.Asp1085Glu)
c.1566T>G (p.Asp522Glu)
1g.99896333A>CCA341328607AGLc.3307A>C (p.Thr1103Pro)
n.3518A>C
c.3259A>C (p.Thr1087Pro)
c.3256A>C (p.Thr1086Pro)
c.1567A>C (p.Thr523Pro)
1g.99896333A>GCA341328609AGLc.3307A>G (p.Thr1103Ala)
n.3518A>G
c.3259A>G (p.Thr1087Ala)
c.3256A>G (p.Thr1086Ala)
c.1567A>G (p.Thr523Ala)
 gnomAD v4
1g.99896333A>TCA341328608AGLc.3307A>T (p.Thr1103Ser)
n.3518A>T
c.3259A>T (p.Thr1087Ser)
c.3256A>T (p.Thr1086Ser)
c.1567A>T (p.Thr523Ser)
1g.99896334C>ACA341328610AGLc.3308C>A (p.Thr1103Asn)
n.3519C>A
c.3260C>A (p.Thr1087Asn)
c.3257C>A (p.Thr1086Asn)
c.1568C>A (p.Thr523Asn)
1g.99896334C=CA1183935276AGLc.3308C= (p.Thr1103=)
n.3519C=
c.3260C= (p.Thr1087=)
c.3257C= (p.Thr1086=)
c.1568C= (p.Thr523=)
1g.99896334C>GCA967045AGLc.3308C>G (p.Thr1103Ser)
n.3519C>G
c.3260C>G (p.Thr1087Ser)
c.3257C>G (p.Thr1086Ser)
c.1568C>G (p.Thr523Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99896334C>TCA341328611AGLc.3308C>T (p.Thr1103Ile)
n.3519C>T
c.3260C>T (p.Thr1087Ile)
c.3257C>T (p.Thr1086Ile)
c.1568C>T (p.Thr523Ile)
 ClinVar COSMIC COSMIC
1g.99896335T>ACA419087200AGLc.3309T>A (p.Thr1103=)
n.3520T>A
c.3261T>A (p.Thr1087=)
c.3258T>A (p.Thr1086=)
c.1569T>A (p.Thr523=)
1g.99896335T>CCA419087202AGLc.3309T>C (p.Thr1103=)
n.3520T>C
c.3261T>C (p.Thr1087=)
c.3258T>C (p.Thr1086=)
c.1569T>C (p.Thr523=)
 ClinVar
1g.99896335T>GCA419087203AGLc.3309T>G (p.Thr1103=)
n.3520T>G
c.3261T>G (p.Thr1087=)
c.3258T>G (p.Thr1086=)
c.1569T>G (p.Thr523=)
1g.99896336T>ACA341328612AGLc.3310T>A (p.Phe1104Ile)
n.3521T>A
c.3262T>A (p.Phe1088Ile)
c.3259T>A (p.Phe1087Ile)
c.1570T>A (p.Phe524Ile)
1g.99896336T>CCA341328617AGLc.3310T>C (p.Phe1104Leu)
n.3521T>C
c.3262T>C (p.Phe1088Leu)
c.3259T>C (p.Phe1087Leu)
c.1570T>C (p.Phe524Leu)
1g.99896336T>GCA341328614AGLc.3310T>G (p.Phe1104Val)
n.3521T>G
c.3262T>G (p.Phe1088Val)
c.3259T>G (p.Phe1087Val)
c.1570T>G (p.Phe524Val)
 ClinVar dbSNP
1g.99896336T=CA1183935277AGLc.3310T= (p.Phe1104=)
n.3521T=
c.3262T= (p.Phe1088=)
c.3259T= (p.Phe1087=)
c.1570T= (p.Phe524=)
1g.99896337T>ACA341328619AGLc.3311T>A (p.Phe1104Tyr)
n.3522T>A
c.3263T>A (p.Phe1088Tyr)
c.3260T>A (p.Phe1087Tyr)
c.1571T>A (p.Phe524Tyr)
1g.99896337T>CCA341328625AGLc.3311T>C (p.Phe1104Ser)
n.3522T>C
c.3263T>C (p.Phe1088Ser)
c.3260T>C (p.Phe1087Ser)
c.1571T>C (p.Phe524Ser)
1g.99896337T>GCA341328621AGLc.3311T>G (p.Phe1104Cys)
n.3522T>G
c.3263T>G (p.Phe1088Cys)
c.3260T>G (p.Phe1087Cys)
c.1571T>G (p.Phe524Cys)
 ClinVar dbSNP
1g.99896337T=CA1183935278AGLc.3311T= (p.Phe1104=)
n.3522T=
c.3263T= (p.Phe1088=)
c.3260T= (p.Phe1087=)
c.1571T= (p.Phe524=)
1g.99896338T>ACA341328628AGLc.3312T>A (p.Phe1104Leu)
n.3523T>A
c.3264T>A (p.Phe1088Leu)
c.3261T>A (p.Phe1087Leu)
c.1572T>A (p.Phe524Leu)
1g.99896338T>CCA419087213AGLc.3312T>C (p.Phe1104=)
n.3523T>C
c.3264T>C (p.Phe1088=)
c.3261T>C (p.Phe1087=)
c.1572T>C (p.Phe524=)
1g.99896338T>GCA341328631AGLc.3312T>G (p.Phe1104Leu)
n.3523T>G
c.3264T>G (p.Phe1088Leu)
c.3261T>G (p.Phe1087Leu)
c.1572T>G (p.Phe524Leu)
1g.99896339A>CCA341328633AGLc.3313A>C (p.Ile1105Leu)
n.3524A>C
c.3265A>C (p.Ile1089Leu)
c.3262A>C (p.Ile1088Leu)
c.1573A>C (p.Ile525Leu)
1g.99896339A>GCA341328636AGLc.3313A>G (p.Ile1105Val)
n.3524A>G
c.3265A>G (p.Ile1089Val)
c.3262A>G (p.Ile1088Val)
c.1573A>G (p.Ile525Val)
 dbSNP
1g.99896339A>TCA341328637AGLc.3313A>T (p.Ile1105Phe)
n.3524A>T
c.3265A>T (p.Ile1089Phe)
c.3262A>T (p.Ile1088Phe)
c.1573A>T (p.Ile525Phe)
1g.99896340T>ACA341328639AGLc.3314T>A (p.Ile1105Asn)
n.3525T>A
c.3266T>A (p.Ile1089Asn)
c.3263T>A (p.Ile1088Asn)
c.1574T>A (p.Ile525Asn)
1g.99896340T>CCA341328641AGLc.3314T>C (p.Ile1105Thr)
n.3525T>C
c.3266T>C (p.Ile1089Thr)
c.3263T>C (p.Ile1088Thr)
c.1574T>C (p.Ile525Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99896340T>GCA341328643AGLc.3314T>G (p.Ile1105Ser)
n.3525T>G
c.3266T>G (p.Ile1089Ser)
c.3263T>G (p.Ile1088Ser)
c.1574T>G (p.Ile525Ser)
1g.99896340T=CA1183935279AGLc.3314T= (p.Ile1105=)
n.3525T=
c.3266T= (p.Ile1089=)
c.3263T= (p.Ile1088=)
c.1574T= (p.Ile525=)
1g.99896341T>ACA419087223AGLc.3315T>A (p.Ile1105=)
n.3526T>A
c.3267T>A (p.Ile1089=)
c.3264T>A (p.Ile1088=)
c.1575T>A (p.Ile525=)
1g.99896341T>CCA419087221AGLc.3315T>C (p.Ile1105=)
n.3526T>C
c.3267T>C (p.Ile1089=)
c.3264T>C (p.Ile1088=)
c.1575T>C (p.Ile525=)
1g.99896341T>GCA341328647AGLc.3315T>G (p.Ile1105Met)
n.3526T>G
c.3267T>G (p.Ile1089Met)
c.3264T>G (p.Ile1088Met)
c.1575T>G (p.Ile525Met)
1g.99896342G>ACA967046AGLc.3316G>A (p.Ala1106Thr)
n.3527G>A
c.3268G>A (p.Ala1090Thr)
c.3265G>A (p.Ala1089Thr)
c.1576G>A (p.Ala526Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896342G>CCA341328652AGLc.3316G>C (p.Ala1106Pro)
n.3527G>C
c.3268G>C (p.Ala1090Pro)
c.3265G>C (p.Ala1089Pro)
c.1576G>C (p.Ala526Pro)
1g.99896342G=CA1183935280AGLc.3316G= (p.Ala1106=)
n.3527G=
c.3268G= (p.Ala1090=)
c.3265G= (p.Ala1089=)
c.1576G= (p.Ala526=)
1g.99896342G>TCA341328654AGLc.3316G>T (p.Ala1106Ser)
n.3527G>T
c.3268G>T (p.Ala1090Ser)
c.3265G>T (p.Ala1089Ser)
c.1576G>T (p.Ala526Ser)
1g.99896343C>ACA341328669AGLc.3317C>A (p.Ala1106Glu)
n.3528C>A
c.3269C>A (p.Ala1090Glu)
c.3266C>A (p.Ala1089Glu)
c.1577C>A (p.Ala526Glu)
1g.99896343C>GCA341328659AGLc.3317C>G (p.Ala1106Gly)
n.3528C>G
c.3269C>G (p.Ala1090Gly)
c.3266C>G (p.Ala1089Gly)
c.1577C>G (p.Ala526Gly)
1g.99896343C>TCA341328663AGLc.3317C>T (p.Ala1106Val)
n.3528C>T
c.3269C>T (p.Ala1090Val)
c.3266C>T (p.Ala1089Val)
c.1577C>T (p.Ala526Val)
1g.99896343_99896347delCA2697552550AGLc.3317_3321del (p.Ala1106GlufsTer?)
n.3528_3532del
c.3269_3273del (p.Ala1090GlufsTer?)
c.3266_3270del (p.Ala1089GlufsTer?)
c.1577_1581del (p.Ala526GlufsTer?)
 ClinVar
1g.99896344A=CA1183935281AGLc.3318A= (p.Ala1106=)
n.3529A=
c.3270A= (p.Ala1090=)
c.3267A= (p.Ala1089=)
c.1578A= (p.Ala526=)
1g.99896344A>CCA419087235AGLc.3318A>C (p.Ala1106=)
n.3529A>C
c.3270A>C (p.Ala1090=)
c.3267A>C (p.Ala1089=)
c.1578A>C (p.Ala526=)
 dbSNP gnomAD v2
1g.99896344A>GCA419087237AGLc.3318A>G (p.Ala1106=)
n.3529A>G
c.3270A>G (p.Ala1090=)
c.3267A>G (p.Ala1089=)
c.1578A>G (p.Ala526=)
1g.99896344A>TCA419087240AGLc.3318A>T (p.Ala1106=)
n.3529A>T
c.3270A>T (p.Ala1090=)
c.3267A>T (p.Ala1089=)
c.1578A>T (p.Ala526=)
 dbSNP gnomAD v2 gnomAD v4
1g.99896345C>ACA341328672AGLc.3319C>A (p.Leu1107Ile)
n.3530C>A
c.3271C>A (p.Leu1091Ile)
c.3268C>A (p.Leu1090Ile)
c.1579C>A (p.Leu527Ile)
1g.99896345C>GCA341328674AGLc.3319C>G (p.Leu1107Val)
n.3530C>G
c.3271C>G (p.Leu1091Val)
c.3268C>G (p.Leu1090Val)
c.1579C>G (p.Leu527Val)
1g.99896345C>TCA341328676AGLc.3319C>T (p.Leu1107Phe)
n.3530C>T
c.3271C>T (p.Leu1091Phe)
c.3268C>T (p.Leu1090Phe)
c.1579C>T (p.Leu527Phe)
 ClinVar
1g.99896346T>ACA341328677AGLc.3320T>A (p.Leu1107His)
n.3531T>A
c.3272T>A (p.Leu1091His)
c.3269T>A (p.Leu1090His)
c.1580T>A (p.Leu527His)
1g.99896346T>CCA341328678AGLc.3320T>C (p.Leu1107Pro)
n.3531T>C
c.3272T>C (p.Leu1091Pro)
c.3269T>C (p.Leu1090Pro)
c.1580T>C (p.Leu527Pro)
1g.99896346T>GCA341328682AGLc.3320T>G (p.Leu1107Arg)
n.3531T>G
c.3272T>G (p.Leu1091Arg)
c.3269T>G (p.Leu1090Arg)
c.1580T>G (p.Leu527Arg)
1g.99896347T>ACA419087248AGLc.3321T>A (p.Leu1107=)
n.3532T>A
c.3273T>A (p.Leu1091=)
c.3270T>A (p.Leu1090=)
c.1581T>A (p.Leu527=)
1g.99896347T>CCA419087250AGLc.3321T>C (p.Leu1107=)
n.3532T>C
c.3273T>C (p.Leu1091=)
c.3270T>C (p.Leu1090=)
c.1581T>C (p.Leu527=)
1g.99896347T>GCA419087252AGLc.3321T>G (p.Leu1107=)
n.3532T>G
c.3273T>G (p.Leu1091=)
c.3270T>G (p.Leu1090=)
c.1581T>G (p.Leu527=)
1g.99896347T=CA1183935282AGLc.3321T= (p.Leu1107=)
n.3532T=
c.3273T= (p.Leu1091=)
c.3270T= (p.Leu1090=)
c.1581T= (p.Leu527=)
1g.99896348A>CCA419087254AGLc.3322A>C (p.Arg1108=)
n.3533A>C
c.3274A>C (p.Arg1092=)
c.3271A>C (p.Arg1091=)
c.1582A>C (p.Arg528=)
1g.99896348A>GCA341328685AGLc.3322A>G (p.Arg1108Gly)
n.3533A>G
c.3274A>G (p.Arg1092Gly)
c.3271A>G (p.Arg1091Gly)
c.1582A>G (p.Arg528Gly)
1g.99896348A>TCA341328690AGLc.3322A>T (p.Arg1108Ter)
n.3533A>T
c.3274A>T (p.Arg1092Ter)
c.3271A>T (p.Arg1091Ter)
c.1582A>T (p.Arg528Ter)
1g.99896348dupCA916245274AGLc.3322dup (p.Arg1108LysfsTer?)
n.3533dup
c.3274dup (p.Arg1092LysfsTer?)
c.3271dup (p.Arg1091LysfsTer?)
c.1582dup (p.Arg528LysfsTer?)
 dbSNP
1g.99896349G>ACA341328699AGLc.3323G>A (p.Arg1108Lys)
n.3534G>A
c.3275G>A (p.Arg1092Lys)
c.3272G>A (p.Arg1091Lys)
c.1583G>A (p.Arg528Lys)
1g.99896349G>CCA341328700AGLc.3323G>C (p.Arg1108Thr)
n.3534G>C
c.3275G>C (p.Arg1092Thr)
c.3272G>C (p.Arg1091Thr)
c.1583G>C (p.Arg528Thr)
 dbSNP
1g.99896349G=CA1183935283AGLc.3323G= (p.Arg1108=)
n.3534G=
c.3275G= (p.Arg1092=)
c.3272G= (p.Arg1091=)
c.1583G= (p.Arg528=)
1g.99896349G>TCA341328711AGLc.3323G>T (p.Arg1108Ile)
n.3534G>T
c.3275G>T (p.Arg1092Ile)
c.3272G>T (p.Arg1091Ile)
c.1583G>T (p.Arg528Ile)
1g.99896350A>CCA341328715AGLc.3324A>C (p.Arg1108Ser)
n.3535A>C
c.3276A>C (p.Arg1092Ser)
c.3273A>C (p.Arg1091Ser)
c.1584A>C (p.Arg528Ser)
1g.99896350A>GCA419087262AGLc.3324A>G (p.Arg1108=)
n.3535A>G
c.3276A>G (p.Arg1092=)
c.3273A>G (p.Arg1091=)
c.1584A>G (p.Arg528=)
1g.99896350A>TCA341328740AGLc.3324A>T (p.Arg1108Ser)
n.3535A>T
c.3276A>T (p.Arg1092Ser)
c.3273A>T (p.Arg1091Ser)
c.1584A>T (p.Arg528Ser)
1g.99896351G>ACA341328744AGLc.3325G>A (p.Gly1109Ser)
n.3536G>A
c.3277G>A (p.Gly1093Ser)
c.3274G>A (p.Gly1092Ser)
c.1585G>A (p.Gly529Ser)
1g.99896351G>CCA341328751AGLc.3325G>C (p.Gly1109Arg)
n.3536G>C
c.3277G>C (p.Gly1093Arg)
c.3274G>C (p.Gly1092Arg)
c.1585G>C (p.Gly529Arg)
1g.99896351G>TCA341328755AGLc.3325G>T (p.Gly1109Cys)
n.3536G>T
c.3277G>T (p.Gly1093Cys)
c.3274G>T (p.Gly1092Cys)
c.1585G>T (p.Gly529Cys)
1g.99896352G>ACA341328760AGLc.3326G>A (p.Gly1109Asp)
n.3537G>A
c.3278G>A (p.Gly1093Asp)
c.3275G>A (p.Gly1092Asp)
c.1586G>A (p.Gly529Asp)
1g.99896352G>CCA341328769AGLc.3326G>C (p.Gly1109Ala)
n.3537G>C
c.3278G>C (p.Gly1093Ala)
c.3275G>C (p.Gly1092Ala)
c.1586G>C (p.Gly529Ala)
1g.99896352G>TCA341328778AGLc.3326G>T (p.Gly1109Val)
n.3537G>T
c.3278G>T (p.Gly1093Val)
c.3275G>T (p.Gly1092Val)
c.1586G>T (p.Gly529Val)
1g.99896353T>ACA419087273AGLc.3327T>A (p.Gly1109=)
n.3538T>A
c.3279T>A (p.Gly1093=)
c.3276T>A (p.Gly1092=)
c.1587T>A (p.Gly529=)
1g.99896353T>CCA419087274AGLc.3327T>C (p.Gly1109=)
n.3538T>C
c.3279T>C (p.Gly1093=)
c.3276T>C (p.Gly1092=)
c.1587T>C (p.Gly529=)
1g.99896353T>GCA419087276AGLc.3327T>G (p.Gly1109=)
n.3538T>G
c.3279T>G (p.Gly1093=)
c.3276T>G (p.Gly1092=)
c.1587T>G (p.Gly529=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99896353T=CA1183935284AGLc.3327T= (p.Gly1109=)
n.3538T=
c.3279T= (p.Gly1093=)
c.3276T= (p.Gly1092=)
c.1587T= (p.Gly529=)
1g.99896354A>CCA341328783AGLc.3328A>C (p.Ile1110Leu)
n.3539A>C
c.3280A>C (p.Ile1094Leu)
c.3277A>C (p.Ile1093Leu)
c.1588A>C (p.Ile530Leu)
1g.99896354A>GCA341328784AGLc.3328A>G (p.Ile1110Val)
n.3539A>G
c.3280A>G (p.Ile1094Val)
c.3277A>G (p.Ile1093Val)
c.1588A>G (p.Ile530Val)
1g.99896354A>TCA341328785AGLc.3328A>T (p.Ile1110Leu)
n.3539A>T
c.3280A>T (p.Ile1094Leu)
c.3277A>T (p.Ile1093Leu)
c.1588A>T (p.Ile530Leu)
1g.99896355delCA2646738179AGLc.3329del (p.Ile1110AsnfsTer3)
n.3540del
c.3281del (p.Ile1094AsnfsTer3)
c.3278del (p.Ile1093AsnfsTer3)
c.1589del (p.Ile530AsnfsTer3)
 gnomAD v4
1g.99896355T>ACA341328786AGLc.3329T>A (p.Ile1110Lys)
n.3540T>A
c.3281T>A (p.Ile1094Lys)
c.3278T>A (p.Ile1093Lys)
c.1589T>A (p.Ile530Lys)
1g.99896355T>CCA341328789AGLc.3329T>C (p.Ile1110Thr)
n.3540T>C
c.3281T>C (p.Ile1094Thr)
c.3278T>C (p.Ile1093Thr)
c.1589T>C (p.Ile530Thr)
 dbSNP gnomAD v4
1g.99896355T>GCA341328792AGLc.3329T>G (p.Ile1110Arg)
n.3540T>G
c.3281T>G (p.Ile1094Arg)
c.3278T>G (p.Ile1093Arg)
c.1589T>G (p.Ile530Arg)
1g.99896355T=CA1183935285AGLc.3329T= (p.Ile1110=)
n.3540T=
c.3281T= (p.Ile1094=)
c.3278T= (p.Ile1093=)
c.1589T= (p.Ile530=)
1g.99896356A>CCA419087281AGLc.3330A>C (p.Ile1110=)
n.3541A>C
c.3282A>C (p.Ile1094=)
c.3279A>C (p.Ile1093=)
c.1590A>C (p.Ile530=)
1g.99896356A>GCA341328795AGLc.3330A>G (p.Ile1110Met)
n.3541A>G
c.3282A>G (p.Ile1094Met)
c.3279A>G (p.Ile1093Met)
c.1590A>G (p.Ile530Met)
1g.99896356A>TCA419087284AGLc.3330A>T (p.Ile1110=)
n.3541A>T
c.3282A>T (p.Ile1094=)
c.3279A>T (p.Ile1093=)
c.1590A>T (p.Ile530=)
1g.99896357C>ACA341328800AGLc.3331C>A (p.Leu1111Met)
n.3542C>A
c.3283C>A (p.Leu1095Met)
c.3280C>A (p.Leu1094Met)
c.1591C>A (p.Leu531Met)
1g.99896357C=CA1183935286AGLc.3331C= (p.Leu1111=)
n.3542C=
c.3283C= (p.Leu1095=)
c.3280C= (p.Leu1094=)
c.1591C= (p.Leu531=)
1g.99896357C>GCA341328815AGLc.3331C>G (p.Leu1111Val)
n.3542C>G
c.3283C>G (p.Leu1095Val)
c.3280C>G (p.Leu1094Val)
c.1591C>G (p.Leu531Val)
 dbSNP
1g.99896357C>TCA419087287AGLc.3331C>T (p.Leu1111=)
n.3542C>T
c.3283C>T (p.Leu1095=)
c.3280C>T (p.Leu1094=)
c.1591C>T (p.Leu531=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99896358T>ACA341328818AGLc.3332T>A (p.Leu1111Gln)
n.3543T>A
c.3284T>A (p.Leu1095Gln)
c.3281T>A (p.Leu1094Gln)
c.1592T>A (p.Leu531Gln)
1g.99896358T>CCA341328819AGLc.3332T>C (p.Leu1111Pro)
n.3543T>C
c.3284T>C (p.Leu1095Pro)
c.3281T>C (p.Leu1094Pro)
c.1592T>C (p.Leu531Pro)
1g.99896358T>GCA341328820AGLc.3332T>G (p.Leu1111Arg)
n.3543T>G
c.3284T>G (p.Leu1095Arg)
c.3281T>G (p.Leu1094Arg)
c.1592T>G (p.Leu531Arg)
1g.99896359G>ACA419087292AGLc.3333G>A (p.Leu1111=)
n.3544G>A
c.3285G>A (p.Leu1095=)
c.3282G>A (p.Leu1094=)
c.1593G>A (p.Leu531=)
 ClinVar
1g.99896359G>CCA27534503AGLc.3333G>C (p.Leu1111=)
n.3544G>C
c.3285G>C (p.Leu1095=)
c.3282G>C (p.Leu1094=)
c.1593G>C (p.Leu531=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99896359G=CA1183935287AGLc.3333G= (p.Leu1111=)
n.3544G=
c.3285G= (p.Leu1095=)
c.3282G= (p.Leu1094=)
c.1593G= (p.Leu531=)
1g.99896359G>TCA419087296AGLc.3333G>T (p.Leu1111=)
n.3544G>T
c.3285G>T (p.Leu1095=)
c.3282G>T (p.Leu1094=)
c.1593G>T (p.Leu531=)
1g.99896360C>ACA341328821AGLc.3334C>A (p.Leu1112Met)
n.3545C>A
c.3286C>A (p.Leu1096Met)
c.3283C>A (p.Leu1095Met)
c.1594C>A (p.Leu532Met)
1g.99896360C>GCA341328822AGLc.3334C>G (p.Leu1112Val)
n.3545C>G
c.3286C>G (p.Leu1096Val)
c.3283C>G (p.Leu1095Val)
c.1594C>G (p.Leu532Val)
1g.99896360C>TCA419087300AGLc.3334C>T (p.Leu1112=)
n.3545C>T
c.3286C>T (p.Leu1096=)
c.3283C>T (p.Leu1095=)
c.1594C>T (p.Leu532=)
1g.99896361T>ACA341328824AGLc.3335T>A (p.Leu1112Gln)
n.3546T>A
c.3287T>A (p.Leu1096Gln)
c.3284T>A (p.Leu1095Gln)
c.1595T>A (p.Leu532Gln)
1g.99896361T>CCA341328826AGLc.3335T>C (p.Leu1112Pro)
n.3546T>C
c.3287T>C (p.Leu1096Pro)
c.3284T>C (p.Leu1095Pro)
c.1595T>C (p.Leu532Pro)
1g.99896361T>GCA341328828AGLc.3335T>G (p.Leu1112Arg)
n.3546T>G
c.3287T>G (p.Leu1096Arg)
c.3284T>G (p.Leu1095Arg)
c.1595T>G (p.Leu532Arg)
1g.99896362G>ACA419087306AGLc.3336G>A (p.Leu1112=)
n.3547G>A
c.3288G>A (p.Leu1096=)
c.3285G>A (p.Leu1095=)
c.1596G>A (p.Leu532=)
 ClinVar
1g.99896362G>CCA419087310AGLc.3336G>C (p.Leu1112=)
n.3547G>C
c.3288G>C (p.Leu1096=)
c.3285G>C (p.Leu1095=)
c.1596G>C (p.Leu532=)
1g.99896362G>TCA419087308AGLc.3336G>T (p.Leu1112=)
n.3547G>T
c.3288G>T (p.Leu1096=)
c.3285G>T (p.Leu1095=)
c.1596G>T (p.Leu532=)
1g.99896363A=CA1183935288AGLc.3337A= (p.Ile1113=)
n.3548A=
c.3289A= (p.Ile1097=)
c.3286A= (p.Ile1096=)
c.1597A= (p.Ile533=)
1g.99896363A>CCA341328833AGLc.3337A>C (p.Ile1113Leu)
n.3548A>C
c.3289A>C (p.Ile1097Leu)
c.3286A>C (p.Ile1096Leu)
c.1597A>C (p.Ile533Leu)
1g.99896363A>GCA967047AGLc.3337A>G (p.Ile1113Val)
n.3548A>G
c.3289A>G (p.Ile1097Val)
c.3286A>G (p.Ile1096Val)
c.1597A>G (p.Ile533Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896363A>TCA341328840AGLc.3337A>T (p.Ile1113Phe)
n.3548A>T
c.3289A>T (p.Ile1097Phe)
c.3286A>T (p.Ile1096Phe)
c.1597A>T (p.Ile533Phe)
1g.99896364T>ACA341328856AGLc.3338T>A (p.Ile1113Asn)
n.3549T>A
c.3290T>A (p.Ile1097Asn)
c.3287T>A (p.Ile1096Asn)
c.1598T>A (p.Ile533Asn)
1g.99896364T>CCA341328853AGLc.3338T>C (p.Ile1113Thr)
n.3549T>C
c.3290T>C (p.Ile1097Thr)
c.3287T>C (p.Ile1096Thr)
c.1598T>C (p.Ile533Thr)
1g.99896364T>GCA341328848AGLc.3338T>G (p.Ile1113Ser)
n.3549T>G
c.3290T>G (p.Ile1097Ser)
c.3287T>G (p.Ile1096Ser)
c.1598T>G (p.Ile533Ser)
1g.99896365T>ACA419087318AGLc.3339T>A (p.Ile1113=)
n.3550T>A
c.3291T>A (p.Ile1097=)
c.3288T>A (p.Ile1096=)
c.1599T>A (p.Ile533=)
 ClinVar dbSNP gnomAD v4
1g.99896365T>CCA419087320AGLc.3339T>C (p.Ile1113=)
n.3550T>C
c.3291T>C (p.Ile1097=)
c.3288T>C (p.Ile1096=)
c.1599T>C (p.Ile533=)
1g.99896365T>GCA341328858AGLc.3339T>G (p.Ile1113Met)
n.3550T>G
c.3291T>G (p.Ile1097Met)
c.3288T>G (p.Ile1096Met)
c.1599T>G (p.Ile533Met)
1g.99896365T=CA1183935289AGLc.3339T= (p.Ile1113=)
n.3550T=
c.3291T= (p.Ile1097=)
c.3288T= (p.Ile1096=)
c.1599T= (p.Ile533=)
1g.99896366A>CCA341328875AGLc.3340A>C (p.Thr1114Pro)
n.3551A>C
c.3292A>C (p.Thr1098Pro)
c.3289A>C (p.Thr1097Pro)
c.1600A>C (p.Thr534Pro)
1g.99896366A>GCA341328863AGLc.3340A>G (p.Thr1114Ala)
n.3551A>G
c.3292A>G (p.Thr1098Ala)
c.3289A>G (p.Thr1097Ala)
c.1600A>G (p.Thr534Ala)
1g.99896366A>TCA341328872AGLc.3340A>T (p.Thr1114Ser)
n.3551A>T
c.3292A>T (p.Thr1098Ser)
c.3289A>T (p.Thr1097Ser)
c.1600A>T (p.Thr534Ser)
1g.99896367C>ACA341328878AGLc.3341C>A (p.Thr1114Asn)
n.3552C>A
c.3293C>A (p.Thr1098Asn)
c.3290C>A (p.Thr1097Asn)
c.1601C>A (p.Thr534Asn)
1g.99896367C>GCA341328881AGLc.3341C>G (p.Thr1114Ser)
n.3552C>G
c.3293C>G (p.Thr1098Ser)
c.3290C>G (p.Thr1097Ser)
c.1601C>G (p.Thr534Ser)
1g.99896367C>TCA341328883AGLc.3341C>T (p.Thr1114Ile)
n.3552C>T
c.3293C>T (p.Thr1098Ile)
c.3290C>T (p.Thr1097Ile)
c.1601C>T (p.Thr534Ile)
1g.99896368T>ACA419087332AGLc.3342T>A (p.Thr1114=)
n.3553T>A
c.3294T>A (p.Thr1098=)
c.3291T>A (p.Thr1097=)
c.1602T>A (p.Thr534=)
1g.99896368T>CCA967048AGLc.3342T>C (p.Thr1114=)
n.3553T>C
c.3294T>C (p.Thr1098=)
c.3291T>C (p.Thr1097=)
c.1602T>C (p.Thr534=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99896368T>GCA419087335AGLc.3342T>G (p.Thr1114=)
n.3553T>G
c.3294T>G (p.Thr1098=)
c.3291T>G (p.Thr1097=)
c.1602T>G (p.Thr534=)
1g.99896368T=CA1143668496AGLc.3342T= (p.Thr1114=)
n.3553T=
c.3294T= (p.Thr1098=)
c.3291T= (p.Thr1097=)
c.1602T= (p.Thr534=)
1g.99896369G>ACA967049AGLc.3343G>A (p.Gly1115Arg)
n.3554G>A
c.3295G>A (p.Gly1099Arg)
c.3292G>A (p.Gly1098Arg)
c.1603G>A (p.Gly535Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99896369G>CCA341328894AGLc.3343G>C (p.Gly1115Arg)
n.3554G>C
c.3295G>C (p.Gly1099Arg)
c.3292G>C (p.Gly1098Arg)
c.1603G>C (p.Gly535Arg)
1g.99896369G=CA1139921708AGLc.3343G= (p.Gly1115=)
n.3554G=
c.3295G= (p.Gly1099=)
c.3292G= (p.Gly1098=)
c.1603G= (p.Gly535=)
1g.99896369G>TCA341328898AGLc.3343G>T (p.Gly1115Ter)
n.3554G>T
c.3295G>T (p.Gly1099Ter)
c.3292G>T (p.Gly1098Ter)
c.1603G>T (p.Gly535Ter)
1g.99896370G>ACA341328902AGLc.3344G>A (p.Gly1115Glu)
n.3555G>A
c.3296G>A (p.Gly1099Glu)
c.3293G>A (p.Gly1098Glu)
c.1604G>A (p.Gly535Glu)
1g.99896370G>CCA341328906AGLc.3344G>C (p.Gly1115Ala)
n.3555G>C
c.3296G>C (p.Gly1099Ala)
c.3293G>C (p.Gly1098Ala)
c.1604G>C (p.Gly535Ala)
1g.99896370G>TCA341328908AGLc.3344G>T (p.Gly1115Val)
n.3555G>T
c.3296G>T (p.Gly1099Val)
c.3293G>T (p.Gly1098Val)
c.1604G>T (p.Gly535Val)
1g.99896371A=CA1183935290AGLc.3345A= (p.Gly1115=)
n.3556A=
c.3297A= (p.Gly1099=)
c.3294A= (p.Gly1098=)
c.1605A= (p.Gly535=)
1g.99896371A>CCA419087344AGLc.3345A>C (p.Gly1115=)
n.3556A>C
c.3297A>C (p.Gly1099=)
c.3294A>C (p.Gly1098=)
c.1605A>C (p.Gly535=)
1g.99896371A>GCA419087346AGLc.3345A>G (p.Gly1115=)
n.3556A>G
c.3297A>G (p.Gly1099=)
c.3294A>G (p.Gly1098=)
c.1605A>G (p.Gly535=)
1g.99896371A>TCA967050AGLc.3345A>T (p.Gly1115=)
n.3556A>T
c.3297A>T (p.Gly1099=)
c.3294A>T (p.Gly1098=)
c.1605A>T (p.Gly535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99896372C>ACA341328912AGLc.3346C>A (p.Arg1116Ser)
n.3557C>A
c.3298C>A (p.Arg1100Ser)
c.3295C>A (p.Arg1099Ser)
c.1606C>A (p.Arg536Ser)
 gnomAD v4
1g.99896372C=CA1183935291AGLc.3346C= (p.Arg1116=)
n.3557C=
c.3298C= (p.Arg1100=)
c.3295C= (p.Arg1099=)
c.1606C= (p.Arg536=)
1g.99896372C>GCA341328917AGLc.3346C>G (p.Arg1116Gly)
n.3557C>G
c.3298C>G (p.Arg1100Gly)
c.3295C>G (p.Arg1099Gly)
c.1606C>G (p.Arg536Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.99896372C>TCA967051AGLc.3346C>T (p.Arg1116Cys)
n.3557C>T
c.3298C>T (p.Arg1100Cys)
c.3295C>T (p.Arg1099Cys)
c.1606C>T (p.Arg536Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99896373G>ACA967053AGLc.3347G>A (p.Arg1116His)
n.3558G>A
c.3299G>A (p.Arg1100His)
c.3296G>A (p.Arg1099His)
c.1607G>A (p.Arg536His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99896373G>CCA967052AGLc.3347G>C (p.Arg1116Pro)
n.3558G>C
c.3299G>C (p.Arg1100Pro)
c.3296G>C (p.Arg1099Pro)
c.1607G>C (p.Arg536Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99896373G=CA1148412285AGLc.3347G= (p.Arg1116=)
n.3558G=
c.3299G= (p.Arg1100=)
c.3296G= (p.Arg1099=)
c.1607G= (p.Arg536=)
1g.99896373G>TCA27534565AGLc.3347G>T (p.Arg1116Leu)
n.3558G>T
c.3299G>T (p.Arg1100Leu)
c.3296G>T (p.Arg1099Leu)
c.1607G>T (p.Arg536Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched