Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99896280dup | CA967033 | AGL | c.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 |
1 | g.99896279_99896280dup | CA916245273 | AGL | c.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 |
1 | g.99896280del | CA524709125 | AGL | c.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 |
1 | g.99896280T>A | CA524709127 | AGL | c.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 |
1 | g.99896280T>G | CA27534435 | AGL | c.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 |
1 | g.99896280T= | CA1143529451 | AGL | c.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=) | |
1 | g.99896281G>A | CA967036 | AGL | c.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 |
1 | g.99896281G= | CA1148419210 | AGL | c.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=) | |
1 | g.99896281G>T | CA967035 | AGL | c.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 |
1 | g.99896283T>C | CA27534438 | AGL | c.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 |
1 | g.99896283T= | CA1183935254 | AGL | c.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=) | |
1 | g.99896284A= | CA1183935255 | AGL | c.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=) | |
1 | g.99896284A>C | CA341328308 | AGL | c.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) | |
1 | g.99896284A>G | CA341328309 | AGL | c.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) | |
1 | g.99896284A>T | CA967037 | AGL | c.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 |
1 | g.99896285G>A | CA341328312 | AGL | c.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) | |
1 | g.99896285G>C | CA341328310 | AGL | c.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) | |
1 | g.99896285G>T | CA341328311 | AGL | c.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 |
1 | g.99896286G>A | CA967038 | AGL | c.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 |
1 | g.99896286G>C | CA341328315 | AGL | c.3260G>C (p.Gly1087Ala) n.3471G>C c.3212G>C (p.Gly1071Ala) c.3209G>C (p.Gly1070Ala) c.1520G>C (p.Gly507Ala) | |
1 | g.99896286G= | CA1183935256 | AGL | c.3260G= (p.Gly1087=) n.3471G= c.3212G= (p.Gly1071=) c.3209G= (p.Gly1070=) c.1520G= (p.Gly507=) | |
1 | g.99896286G>T | CA341328316 | AGL | c.3260G>T (p.Gly1087Val) n.3471G>T c.3212G>T (p.Gly1071Val) c.3209G>T (p.Gly1070Val) c.1520G>T (p.Gly507Val) | |
1 | g.99896287C>A | CA419086976 | AGL | c.3261C>A (p.Gly1087=) n.3472C>A c.3213C>A (p.Gly1071=) c.3210C>A (p.Gly1070=) c.1521C>A (p.Gly507=) | |
1 | g.99896287C>G | CA419086978 | AGL | c.3261C>G (p.Gly1087=) n.3472C>G c.3213C>G (p.Gly1071=) c.3210C>G (p.Gly1070=) c.1521C>G (p.Gly507=) | gnomAD v4 |
1 | g.99896287C>T | CA419086977 | AGL | c.3261C>T (p.Gly1087=) n.3472C>T c.3213C>T (p.Gly1071=) c.3210C>T (p.Gly1070=) c.1521C>T (p.Gly507=) | |
1 | g.99896288T>A | CA341328317 | AGL | c.3262T>A (p.Leu1088Ile) n.3473T>A c.3214T>A (p.Leu1072Ile) c.3211T>A (p.Leu1071Ile) c.1522T>A (p.Leu508Ile) | |
1 | g.99896288T>C | CA419086982 | AGL | c.3262T>C (p.Leu1088=) n.3473T>C c.3214T>C (p.Leu1072=) c.3211T>C (p.Leu1071=) c.1522T>C (p.Leu508=) | |
1 | g.99896288T>G | CA341328318 | AGL | c.3262T>G (p.Leu1088Val) n.3473T>G c.3214T>G (p.Leu1072Val) c.3211T>G (p.Leu1071Val) c.1522T>G (p.Leu508Val) | |
1 | g.99896289T>A | CA341328321 | AGL | c.3263T>A (p.Leu1088Ter) n.3474T>A c.3215T>A (p.Leu1072Ter) c.3212T>A (p.Leu1071Ter) c.1523T>A (p.Leu508Ter) | |
1 | g.99896289T>C | CA341328323 | AGL | c.3263T>C (p.Leu1088Ser) n.3474T>C c.3215T>C (p.Leu1072Ser) c.3212T>C (p.Leu1071Ser) c.1523T>C (p.Leu508Ser) | |
1 | g.99896289T>G | CA341328324 | AGL | c.3263T>G (p.Leu1088Ter) n.3474T>G c.3215T>G (p.Leu1072Ter) c.3212T>G (p.Leu1071Ter) c.1523T>G (p.Leu508Ter) | |
1 | g.99896290A= | CA1183935257 | AGL | c.3264A= (p.Leu1088=) n.3475A= c.3216A= (p.Leu1072=) c.3213A= (p.Leu1071=) c.1524A= (p.Leu508=) | |
1 | g.99896290A>C | CA341328325 | AGL | c.3264A>C (p.Leu1088Phe) n.3475A>C c.3216A>C (p.Leu1072Phe) c.3213A>C (p.Leu1071Phe) c.1524A>C (p.Leu508Phe) | gnomAD v4 |
1 | g.99896290A>G | CA419086994 | AGL | c.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 |
1 | g.99896290A>T | CA341328326 | AGL | c.3264A>T (p.Leu1088Phe) n.3475A>T c.3216A>T (p.Leu1072Phe) c.3213A>T (p.Leu1071Phe) c.1524A>T (p.Leu508Phe) | |
1 | g.99896291C>A | CA341328328 | AGL | c.3265C>A (p.Pro1089Thr) n.3476C>A c.3217C>A (p.Pro1073Thr) c.3214C>A (p.Pro1072Thr) c.1525C>A (p.Pro509Thr) | |
1 | g.99896291C>G | CA341328329 | AGL | c.3265C>G (p.Pro1089Ala) n.3476C>G c.3217C>G (p.Pro1073Ala) c.3214C>G (p.Pro1072Ala) c.1525C>G (p.Pro509Ala) | |
1 | g.99896291C>T | CA341328331 | AGL | c.3265C>T (p.Pro1089Ser) n.3476C>T c.3217C>T (p.Pro1073Ser) c.3214C>T (p.Pro1072Ser) c.1525C>T (p.Pro509Ser) | gnomAD v4 |
1 | g.99896292C>A | CA341328334 | AGL | c.3266C>A (p.Pro1089His) n.3477C>A c.3218C>A (p.Pro1073His) c.3215C>A (p.Pro1072His) c.1526C>A (p.Pro509His) | |
1 | g.99896292C= | CA1183935258 | AGL | c.3266C= (p.Pro1089=) n.3477C= c.3218C= (p.Pro1073=) c.3215C= (p.Pro1072=) c.1526C= (p.Pro509=) | |
1 | g.99896292C>G | CA341328339 | AGL | c.3266C>G (p.Pro1089Arg) n.3477C>G c.3218C>G (p.Pro1073Arg) c.3215C>G (p.Pro1072Arg) c.1526C>G (p.Pro509Arg) | |
1 | g.99896292C>T | CA341328337 | AGL | c.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 |
1 | g.99896293T>A | CA419087015 | AGL | c.3267T>A (p.Pro1089=) n.3478T>A c.3219T>A (p.Pro1073=) c.3216T>A (p.Pro1072=) c.1527T>A (p.Pro509=) | |
1 | g.99896293T>C | CA419087010 | AGL | c.3267T>C (p.Pro1089=) n.3478T>C c.3219T>C (p.Pro1073=) c.3216T>C (p.Pro1072=) c.1527T>C (p.Pro509=) | |
1 | g.99896293T>G | CA419087013 | AGL | c.3267T>G (p.Pro1089=) n.3478T>G c.3219T>G (p.Pro1073=) c.3216T>G (p.Pro1072=) c.1527T>G (p.Pro509=) | |
1 | g.99896294C>A | CA341328340 | AGL | c.3268C>A (p.His1090Asn) n.3479C>A c.3220C>A (p.His1074Asn) c.3217C>A (p.His1073Asn) c.1528C>A (p.His510Asn) | |
1 | g.99896294C>G | CA341328341 | AGL | c.3268C>G (p.His1090Asp) n.3479C>G c.3220C>G (p.His1074Asp) c.3217C>G (p.His1073Asp) c.1528C>G (p.His510Asp) | gnomAD v4 |
1 | g.99896294C>T | CA341328342 | AGL | c.3268C>T (p.His1090Tyr) n.3479C>T c.3220C>T (p.His1074Tyr) c.3217C>T (p.His1073Tyr) c.1528C>T (p.His510Tyr) | gnomAD v4 |
1 | g.99896295A= | CA1183935259 | AGL | c.3269A= (p.His1090=) n.3480A= c.3221A= (p.His1074=) c.3218A= (p.His1073=) c.1529A= (p.His510=) | |
1 | g.99896295A>C | CA341328345 | AGL | c.3269A>C (p.His1090Pro) n.3480A>C c.3221A>C (p.His1074Pro) c.3218A>C (p.His1073Pro) c.1529A>C (p.His510Pro) | |
1 | g.99896295A>G | CA341328347 | AGL | c.3269A>G (p.His1090Arg) n.3480A>G c.3221A>G (p.His1074Arg) c.3218A>G (p.His1073Arg) c.1529A>G (p.His510Arg) | dbSNP |
1 | g.99896295A>T | CA341328351 | AGL | c.3269A>T (p.His1090Leu) n.3480A>T c.3221A>T (p.His1074Leu) c.3218A>T (p.His1073Leu) c.1529A>T (p.His510Leu) | |
1 | g.99896296T>A | CA341328354 | AGL | c.3270T>A (p.His1090Gln) n.3481T>A c.3222T>A (p.His1074Gln) c.3219T>A (p.His1073Gln) c.1530T>A (p.His510Gln) | |
1 | g.99896296T>C | CA419087023 | AGL | c.3270T>C (p.His1090=) n.3481T>C c.3222T>C (p.His1074=) c.3219T>C (p.His1073=) c.1530T>C (p.His510=) | ClinVar |
1 | g.99896296T>G | CA341328357 | AGL | c.3270T>G (p.His1090Gln) n.3481T>G c.3222T>G (p.His1074Gln) c.3219T>G (p.His1073Gln) c.1530T>G (p.His510Gln) | |
1 | g.99896297T>A | CA341328359 | AGL | c.3271T>A (p.Phe1091Ile) n.3482T>A c.3223T>A (p.Phe1075Ile) c.3220T>A (p.Phe1074Ile) c.1531T>A (p.Phe511Ile) | |
1 | g.99896297T>C | CA341328361 | AGL | c.3271T>C (p.Phe1091Leu) n.3482T>C c.3223T>C (p.Phe1075Leu) c.3220T>C (p.Phe1074Leu) c.1531T>C (p.Phe511Leu) | |
1 | g.99896297T>G | CA341328363 | AGL | c.3271T>G (p.Phe1091Val) n.3482T>G c.3223T>G (p.Phe1075Val) c.3220T>G (p.Phe1074Val) c.1531T>G (p.Phe511Val) | |
1 | g.99896298T>A | CA341328364 | AGL | c.3272T>A (p.Phe1091Tyr) n.3483T>A c.3224T>A (p.Phe1075Tyr) c.3221T>A (p.Phe1074Tyr) c.1532T>A (p.Phe511Tyr) | |
1 | g.99896298T>C | CA341328367 | AGL | c.3272T>C (p.Phe1091Ser) n.3483T>C c.3224T>C (p.Phe1075Ser) c.3221T>C (p.Phe1074Ser) c.1532T>C (p.Phe511Ser) | |
1 | g.99896298T>G | CA341328369 | AGL | c.3272T>G (p.Phe1091Cys) n.3483T>G c.3224T>G (p.Phe1075Cys) c.3221T>G (p.Phe1074Cys) c.1532T>G (p.Phe511Cys) | |
1 | g.99896299T>A | CA341328371 | AGL | c.3273T>A (p.Phe1091Leu) n.3484T>A c.3225T>A (p.Phe1075Leu) c.3222T>A (p.Phe1074Leu) c.1533T>A (p.Phe511Leu) | |
1 | g.99896299T>C | CA419087032 | AGL | c.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 |
1 | g.99896299T>G | CA341328373 | AGL | c.3273T>G (p.Phe1091Leu) n.3484T>G c.3225T>G (p.Phe1075Leu) c.3222T>G (p.Phe1074Leu) c.1533T>G (p.Phe511Leu) | |
1 | g.99896299T= | CA1183935260 | AGL | c.3273T= (p.Phe1091=) n.3484T= c.3225T= (p.Phe1075=) c.3222T= (p.Phe1074=) c.1533T= (p.Phe511=) | |
1 | g.99896300T>A | CA341328376 | AGL | c.3274T>A (p.Ser1092Thr) n.3485T>A c.3226T>A (p.Ser1076Thr) c.3223T>A (p.Ser1075Thr) c.1534T>A (p.Ser512Thr) | |
1 | g.99896300T>C | CA341328384 | AGL | c.3274T>C (p.Ser1092Pro) n.3485T>C c.3226T>C (p.Ser1076Pro) c.3223T>C (p.Ser1075Pro) c.1534T>C (p.Ser512Pro) | |
1 | g.99896300T>G | CA341328387 | AGL | c.3274T>G (p.Ser1092Ala) n.3485T>G c.3226T>G (p.Ser1076Ala) c.3223T>G (p.Ser1075Ala) c.1534T>G (p.Ser512Ala) | |
1 | g.99896301C>A | CA341328391 | AGL | c.3275C>A (p.Ser1092Tyr) n.3486C>A c.3227C>A (p.Ser1076Tyr) c.3224C>A (p.Ser1075Tyr) c.1535C>A (p.Ser512Tyr) | |
1 | g.99896301C>G | CA341328393 | AGL | c.3275C>G (p.Ser1092Cys) n.3486C>G c.3227C>G (p.Ser1076Cys) c.3224C>G (p.Ser1075Cys) c.1535C>G (p.Ser512Cys) | |
1 | g.99896301C>T | CA341328396 | AGL | c.3275C>T (p.Ser1092Phe) n.3486C>T c.3227C>T (p.Ser1076Phe) c.3224C>T (p.Ser1075Phe) c.1535C>T (p.Ser512Phe) | |
1 | g.99896302T>A | CA419087050 | AGL | c.3276T>A (p.Ser1092=) n.3487T>A c.3228T>A (p.Ser1076=) c.3225T>A (p.Ser1075=) c.1536T>A (p.Ser512=) | |
1 | g.99896302T>C | CA419087053 | AGL | c.3276T>C (p.Ser1092=) n.3487T>C c.3228T>C (p.Ser1076=) c.3225T>C (p.Ser1075=) c.1536T>C (p.Ser512=) | ClinVar dbSNP |
1 | g.99896302T>G | CA419087055 | AGL | c.3276T>G (p.Ser1092=) n.3487T>G c.3228T>G (p.Ser1076=) c.3225T>G (p.Ser1075=) c.1536T>G (p.Ser512=) | |
1 | g.99896303T>A | CA341328400 | AGL | c.3277T>A (p.Ser1093Thr) n.3488T>A c.3229T>A (p.Ser1077Thr) c.3226T>A (p.Ser1076Thr) c.1537T>A (p.Ser513Thr) | |
1 | g.99896303T>C | CA341328402 | AGL | c.3277T>C (p.Ser1093Pro) n.3488T>C c.3229T>C (p.Ser1077Pro) c.3226T>C (p.Ser1076Pro) c.1537T>C (p.Ser513Pro) | |
1 | g.99896303T>G | CA341328405 | AGL | c.3277T>G (p.Ser1093Ala) n.3488T>G c.3229T>G (p.Ser1077Ala) c.3226T>G (p.Ser1076Ala) c.1537T>G (p.Ser513Ala) | |
1 | g.99896303_99896304delinsTC | CA1183935261 | AGL | c.3277_3278delinsTC (p.Ser1093=) n.3488_3489delinsTC c.3229_3230delinsTC (p.Ser1077=) c.3226_3227delinsTC (p.Ser1076=) c.1537_1538delinsTC (p.Ser513=) | |
1 | g.99896304del | CA1183935263 | AGL | c.3278del (p.Ser1093LeufsTer20) n.3489del c.3230del (p.Ser1077LeufsTer20) c.3227del (p.Ser1076LeufsTer20) c.1538del (p.Ser513LeufsTer20) | dbSNP |
1 | g.99896304C>A | CA341328410 | AGL | c.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 |
1 | g.99896304C= | CA1183935262 | AGL | c.3278C= (p.Ser1093=) n.3489C= c.3230C= (p.Ser1077=) c.3227C= (p.Ser1076=) c.1538C= (p.Ser513=) | |
1 | g.99896304C>G | CA341328413 | AGL | c.3278C>G (p.Ser1093Cys) n.3489C>G c.3230C>G (p.Ser1077Cys) c.3227C>G (p.Ser1076Cys) c.1538C>G (p.Ser513Cys) | |
1 | g.99896304C>T | CA341328414 | AGL | c.3278C>T (p.Ser1093Phe) n.3489C>T c.3230C>T (p.Ser1077Phe) c.3227C>T (p.Ser1076Phe) c.1538C>T (p.Ser513Phe) | |
1 | g.99896305del | CA645538193 | AGL | c.3279del (p.Gly1094ValfsTer19) n.3490del c.3231del (p.Gly1078ValfsTer19) c.3228del (p.Gly1077ValfsTer19) c.1539del (p.Gly514ValfsTer19) | COSMIC COSMIC |
1 | g.99896305T>A | CA419087066 | AGL | c.3279T>A (p.Ser1093=) n.3490T>A c.3231T>A (p.Ser1077=) c.3228T>A (p.Ser1076=) c.1539T>A (p.Ser513=) | |
1 | g.99896305T>C | CA419087068 | AGL | c.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 |
1 | g.99896305T>G | CA27534447 | AGL | c.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 |
1 | g.99896305T= | CA1183935264 | AGL | c.3279T= (p.Ser1093=) n.3490T= c.3231T= (p.Ser1077=) c.3228T= (p.Ser1076=) c.1539T= (p.Ser513=) | |
1 | g.99896306G>A | CA341328415 | AGL | c.3280G>A (p.Gly1094Ser) n.3491G>A c.3232G>A (p.Gly1078Ser) c.3229G>A (p.Gly1077Ser) c.1540G>A (p.Gly514Ser) | |
1 | g.99896306G>C | CA341328418 | AGL | c.3280G>C (p.Gly1094Arg) n.3491G>C c.3232G>C (p.Gly1078Arg) c.3229G>C (p.Gly1077Arg) c.1540G>C (p.Gly514Arg) | |
1 | g.99896306G>T | CA341328416 | AGL | c.3280G>T (p.Gly1094Cys) n.3491G>T c.3232G>T (p.Gly1078Cys) c.3229G>T (p.Gly1077Cys) c.1540G>T (p.Gly514Cys) | |
1 | g.99896307G>A | CA341328427 | AGL | c.3281G>A (p.Gly1094Asp) n.3492G>A c.3233G>A (p.Gly1078Asp) c.3230G>A (p.Gly1077Asp) c.1541G>A (p.Gly514Asp) | |
1 | g.99896307G>C | CA341328431 | AGL | c.3281G>C (p.Gly1094Ala) n.3492G>C c.3233G>C (p.Gly1078Ala) c.3230G>C (p.Gly1077Ala) c.1541G>C (p.Gly514Ala) | |
1 | g.99896307G= | CA1183935265 | AGL | c.3281G= (p.Gly1094=) n.3492G= c.3233G= (p.Gly1078=) c.3230G= (p.Gly1077=) c.1541G= (p.Gly514=) | |
1 | g.99896307G>T | CA967039 | AGL | c.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 |
1 | g.99896308T>A | CA419087079 | AGL | c.3282T>A (p.Gly1094=) n.3493T>A c.3234T>A (p.Gly1078=) c.3231T>A (p.Gly1077=) c.1542T>A (p.Gly514=) | |
1 | g.99896308T>C | CA967040 | AGL | c.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 |
1 | g.99896308T>G | CA419087083 | AGL | c.3282T>G (p.Gly1094=) n.3493T>G c.3234T>G (p.Gly1078=) c.3231T>G (p.Gly1077=) c.1542T>G (p.Gly514=) | |
1 | g.99896308T= | CA1183935266 | AGL | c.3282T= (p.Gly1094=) n.3493T= c.3234T= (p.Gly1078=) c.3231T= (p.Gly1077=) c.1542T= (p.Gly514=) | |
1 | g.99896309A= | CA1183935267 | AGL | c.3283A= (p.Ile1095=) n.3494A= c.3235A= (p.Ile1079=) c.3232A= (p.Ile1078=) c.1543A= (p.Ile515=) | |
1 | g.99896309A>C | CA967041 | AGL | c.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 |
1 | g.99896309A>G | CA341328434 | AGL | c.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 |
1 | g.99896309A>T | CA341328436 | AGL | c.3283A>T (p.Ile1095Phe) n.3494A>T c.3235A>T (p.Ile1079Phe) c.3232A>T (p.Ile1078Phe) c.1543A>T (p.Ile515Phe) | |
1 | g.99896310T>A | CA341328438 | AGL | c.3284T>A (p.Ile1095Asn) n.3495T>A c.3236T>A (p.Ile1079Asn) c.3233T>A (p.Ile1078Asn) c.1544T>A (p.Ile515Asn) | |
1 | g.99896310T>C | CA341328441 | AGL | c.3284T>C (p.Ile1095Thr) n.3495T>C c.3236T>C (p.Ile1079Thr) c.3233T>C (p.Ile1078Thr) c.1544T>C (p.Ile515Thr) | |
1 | g.99896310T>G | CA341328455 | AGL | c.3284T>G (p.Ile1095Ser) n.3495T>G c.3236T>G (p.Ile1079Ser) c.3233T>G (p.Ile1078Ser) c.1544T>G (p.Ile515Ser) | |
1 | g.99896313dup | CA2586967150 | AGL | c.3287dup (p.Arg1097ProfsTer12) n.3498dup c.3239dup (p.Arg1081ProfsTer12) c.3236dup (p.Arg1080ProfsTer12) c.1547dup (p.Arg517ProfsTer12) | ClinVar gnomAD v4 |
1 | g.99896311T>A | CA419087092 | AGL | c.3285T>A (p.Ile1095=) n.3496T>A c.3237T>A (p.Ile1079=) c.3234T>A (p.Ile1078=) c.1545T>A (p.Ile515=) | |
1 | g.99896311T>C | CA27534472 | AGL | c.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 |
1 | g.99896311T>G | CA341328462 | AGL | c.3285T>G (p.Ile1095Met) n.3496T>G c.3237T>G (p.Ile1079Met) c.3234T>G (p.Ile1078Met) c.1545T>G (p.Ile515Met) | |
1 | g.99896311T= | CA1183935268 | AGL | c.3285T= (p.Ile1095=) n.3496T= c.3237T= (p.Ile1079=) c.3234T= (p.Ile1078=) c.1545T= (p.Ile515=) | |
1 | g.99896312T>A | CA341328463 | AGL | c.3286T>A (p.Phe1096Ile) n.3497T>A c.3238T>A (p.Phe1080Ile) c.3235T>A (p.Phe1079Ile) c.1546T>A (p.Phe516Ile) | |
1 | g.99896312T>C | CA341328464 | AGL | c.3286T>C (p.Phe1096Leu) n.3497T>C c.3238T>C (p.Phe1080Leu) c.3235T>C (p.Phe1079Leu) c.1546T>C (p.Phe516Leu) | |
1 | g.99896312T>G | CA341328465 | AGL | c.3286T>G (p.Phe1096Val) n.3497T>G c.3238T>G (p.Phe1080Val) c.3235T>G (p.Phe1079Val) c.1546T>G (p.Phe516Val) | |
1 | g.99896313T>A | CA341328471 | AGL | c.3287T>A (p.Phe1096Tyr) n.3498T>A c.3239T>A (p.Phe1080Tyr) c.3236T>A (p.Phe1079Tyr) c.1547T>A (p.Phe516Tyr) | |
1 | g.99896313T>C | CA341328469 | AGL | c.3287T>C (p.Phe1096Ser) n.3498T>C c.3239T>C (p.Phe1080Ser) c.3236T>C (p.Phe1079Ser) c.1547T>C (p.Phe516Ser) | |
1 | g.99896313T>G | CA341328466 | AGL | c.3287T>G (p.Phe1096Cys) n.3498T>G c.3239T>G (p.Phe1080Cys) c.3236T>G (p.Phe1079Cys) c.1547T>G (p.Phe516Cys) | |
1 | g.99896314C>A | CA341328474 | AGL | c.3288C>A (p.Phe1096Leu) n.3499C>A c.3240C>A (p.Phe1080Leu) c.3237C>A (p.Phe1079Leu) c.1548C>A (p.Phe516Leu) | |
1 | g.99896314C>G | CA341328478 | AGL | c.3288C>G (p.Phe1096Leu) n.3499C>G c.3240C>G (p.Phe1080Leu) c.3237C>G (p.Phe1079Leu) c.1548C>G (p.Phe516Leu) | |
1 | g.99896314C>T | CA419087109 | AGL | c.3288C>T (p.Phe1096=) n.3499C>T c.3240C>T (p.Phe1080=) c.3237C>T (p.Phe1079=) c.1548C>T (p.Phe516=) | COSMIC |
1 | g.99896315C>A | CA341328482 | AGL | c.3289C>A (p.Arg1097Ser) n.3500C>A c.3241C>A (p.Arg1081Ser) c.3238C>A (p.Arg1080Ser) c.1549C>A (p.Arg517Ser) | |
1 | g.99896315C= | CA1183935269 | AGL | c.3289C= (p.Arg1097=) n.3500C= c.3241C= (p.Arg1081=) c.3238C= (p.Arg1080=) c.1549C= (p.Arg517=) | |
1 | g.99896315C>G | CA341328484 | AGL | c.3289C>G (p.Arg1097Gly) n.3500C>G c.3241C>G (p.Arg1081Gly) c.3238C>G (p.Arg1080Gly) c.1549C>G (p.Arg517Gly) | |
1 | g.99896315C>T | CA967042 | AGL | c.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 |
1 | g.99896316G>A | CA967043 | AGL | c.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 |
1 | g.99896316G>C | CA341328491 | AGL | c.3290G>C (p.Arg1097Pro) n.3501G>C c.3242G>C (p.Arg1081Pro) c.3239G>C (p.Arg1080Pro) c.1550G>C (p.Arg517Pro) | |
1 | g.99896316G= | CA1142811697 | AGL | c.3290G= (p.Arg1097=) n.3501G= c.3242G= (p.Arg1081=) c.3239G= (p.Arg1080=) c.1550G= (p.Arg517=) | |
1 | g.99896316G>T | CA341328495 | AGL | c.3290G>T (p.Arg1097Leu) n.3501G>T c.3242G>T (p.Arg1081Leu) c.3239G>T (p.Arg1080Leu) c.1550G>T (p.Arg517Leu) | |
1 | g.99896317C>A | CA419087120 | AGL | c.3291C>A (p.Arg1097=) n.3502C>A c.3243C>A (p.Arg1081=) c.3240C>A (p.Arg1080=) c.1551C>A (p.Arg517=) | |
1 | g.99896317C= | CA1183935270 | AGL | c.3291C= (p.Arg1097=) n.3502C= c.3243C= (p.Arg1081=) c.3240C= (p.Arg1080=) c.1551C= (p.Arg517=) | |
1 | g.99896317C>G | CA419087123 | AGL | c.3291C>G (p.Arg1097=) n.3502C>G c.3243C>G (p.Arg1081=) c.3240C>G (p.Arg1080=) c.1551C>G (p.Arg517=) | |
1 | g.99896317C>T | CA419087125 | AGL | c.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 |
1 | g.99896318T>A | CA341328501 | AGL | c.3292T>A (p.Cys1098Ser) n.3503T>A c.3244T>A (p.Cys1082Ser) c.3241T>A (p.Cys1081Ser) c.1552T>A (p.Cys518Ser) | |
1 | g.99896318T>C | CA341328504 | AGL | c.3292T>C (p.Cys1098Arg) n.3503T>C c.3244T>C (p.Cys1082Arg) c.3241T>C (p.Cys1081Arg) c.1552T>C (p.Cys518Arg) | gnomAD v4 |
1 | g.99896318T>G | CA341328509 | AGL | c.3292T>G (p.Cys1098Gly) n.3503T>G c.3244T>G (p.Cys1082Gly) c.3241T>G (p.Cys1081Gly) c.1552T>G (p.Cys518Gly) | |
1 | g.99896319G>A | CA341328515 | AGL | c.3293G>A (p.Cys1098Tyr) n.3504G>A c.3245G>A (p.Cys1082Tyr) c.3242G>A (p.Cys1081Tyr) c.1553G>A (p.Cys518Tyr) | |
1 | g.99896319G>C | CA341328513 | AGL | c.3293G>C (p.Cys1098Ser) n.3504G>C c.3245G>C (p.Cys1082Ser) c.3242G>C (p.Cys1081Ser) c.1553G>C (p.Cys518Ser) | |
1 | g.99896319G= | CA1183935271 | AGL | c.3293G= (p.Cys1098=) n.3504G= c.3245G= (p.Cys1082=) c.3242G= (p.Cys1081=) c.1553G= (p.Cys518=) | |
1 | g.99896319G>T | CA967044 | AGL | c.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 |
1 | g.99896320C>A | CA341328517 | AGL | c.3294C>A (p.Cys1098Ter) n.3505C>A c.3246C>A (p.Cys1082Ter) c.3243C>A (p.Cys1081Ter) c.1554C>A (p.Cys518Ter) | |
1 | g.99896320C= | CA1183935272 | AGL | c.3294C= (p.Cys1098=) n.3505C= c.3246C= (p.Cys1082=) c.3243C= (p.Cys1081=) c.1554C= (p.Cys518=) | |
1 | g.99896320C>G | CA341328520 | AGL | c.3294C>G (p.Cys1098Trp) n.3505C>G c.3246C>G (p.Cys1082Trp) c.3243C>G (p.Cys1081Trp) c.1554C>G (p.Cys518Trp) | |
1 | g.99896320C>T | CA419087135 | AGL | c.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 |
1 | g.99896321T>A | CA341328525 | AGL | c.3295T>A (p.Trp1099Arg) n.3506T>A c.3247T>A (p.Trp1083Arg) c.3244T>A (p.Trp1082Arg) c.1555T>A (p.Trp519Arg) | |
1 | g.99896321T>C | CA341328529 | AGL | c.3295T>C (p.Trp1099Arg) n.3506T>C c.3247T>C (p.Trp1083Arg) c.3244T>C (p.Trp1082Arg) c.1555T>C (p.Trp519Arg) | |
1 | g.99896321T>G | CA341328533 | AGL | c.3295T>G (p.Trp1099Gly) n.3506T>G c.3247T>G (p.Trp1083Gly) c.3244T>G (p.Trp1082Gly) c.1555T>G (p.Trp519Gly) | |
1 | g.99896322G>A | CA341328537 | AGL | c.3296G>A (p.Trp1099Ter) n.3507G>A c.3248G>A (p.Trp1083Ter) c.3245G>A (p.Trp1082Ter) c.1556G>A (p.Trp519Ter) | COSMIC |
1 | g.99896322G>C | CA341328536 | AGL | c.3296G>C (p.Trp1099Ser) n.3507G>C c.3248G>C (p.Trp1083Ser) c.3245G>C (p.Trp1082Ser) c.1556G>C (p.Trp519Ser) | gnomAD v4 |
1 | g.99896322G>T | CA341328535 | AGL | c.3296G>T (p.Trp1099Leu) n.3507G>T c.3248G>T (p.Trp1083Leu) c.3245G>T (p.Trp1082Leu) c.1556G>T (p.Trp519Leu) | gnomAD v4 |
1 | g.99896325del | CA2574444632 | AGL | c.3299del (p.Gly1100GlufsTer13) n.3510del c.3251del (p.Gly1084GlufsTer13) c.3248del (p.Gly1083GlufsTer13) c.1559del (p.Gly520GlufsTer13) | ClinVar gnomAD v4 |
1 | g.99896323G>A | CA273998 | AGL | c.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 |
1 | g.99896323G>C | CA341328538 | AGL | c.3297G>C (p.Trp1099Cys) n.3508G>C c.3249G>C (p.Trp1083Cys) c.3246G>C (p.Trp1082Cys) c.1557G>C (p.Trp519Cys) | |
1 | g.99896323G= | CA1183935273 | AGL | c.3297G= (p.Trp1099=) n.3508G= c.3249G= (p.Trp1083=) c.3246G= (p.Trp1082=) c.1557G= (p.Trp519=) | |
1 | g.99896323G>T | CA341328539 | AGL | c.3297G>T (p.Trp1099Cys) n.3508G>T c.3249G>T (p.Trp1083Cys) c.3246G>T (p.Trp1082Cys) c.1557G>T (p.Trp519Cys) | |
1 | g.99896324G>A | CA341328541 | AGL | c.3298G>A (p.Gly1100Arg) n.3509G>A c.3250G>A (p.Gly1084Arg) c.3247G>A (p.Gly1083Arg) c.1558G>A (p.Gly520Arg) | gnomAD v4 |
1 | g.99896324G>C | CA341328544 | AGL | c.3298G>C (p.Gly1100Arg) n.3509G>C c.3250G>C (p.Gly1084Arg) c.3247G>C (p.Gly1083Arg) c.1558G>C (p.Gly520Arg) | |
1 | g.99896324G>T | CA341328549 | AGL | c.3298G>T (p.Gly1100Ter) n.3509G>T c.3250G>T (p.Gly1084Ter) c.3247G>T (p.Gly1083Ter) c.1558G>T (p.Gly520Ter) | |
1 | g.99896325G>A | CA341328552 | AGL | c.3299G>A (p.Gly1100Glu) n.3510G>A c.3251G>A (p.Gly1084Glu) c.3248G>A (p.Gly1083Glu) c.1559G>A (p.Gly520Glu) | ClinVar |
1 | g.99896325G>C | CA341328554 | AGL | c.3299G>C (p.Gly1100Ala) n.3510G>C c.3251G>C (p.Gly1084Ala) c.3248G>C (p.Gly1083Ala) c.1559G>C (p.Gly520Ala) | |
1 | g.99896325G>T | CA341328553 | AGL | c.3299G>T (p.Gly1100Val) n.3510G>T c.3251G>T (p.Gly1084Val) c.3248G>T (p.Gly1083Val) c.1559G>T (p.Gly520Val) | |
1 | g.99896326A>C | CA419087159 | AGL | c.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 |
1 | g.99896326A>G | CA419087161 | AGL | c.3300A>G (p.Gly1100=) n.3511A>G c.3252A>G (p.Gly1084=) c.3249A>G (p.Gly1083=) c.1560A>G (p.Gly520=) | |
1 | g.99896326A>T | CA419087162 | AGL | c.3300A>T (p.Gly1100=) n.3511A>T c.3252A>T (p.Gly1084=) c.3249A>T (p.Gly1083=) c.1560A>T (p.Gly520=) | gnomAD v4 |
1 | g.99896327A>C | CA419087165 | AGL | c.3301A>C (p.Arg1101=) n.3512A>C c.3253A>C (p.Arg1085=) c.3250A>C (p.Arg1084=) c.1561A>C (p.Arg521=) | |
1 | g.99896327A>G | CA341328555 | AGL | c.3301A>G (p.Arg1101Gly) n.3512A>G c.3253A>G (p.Arg1085Gly) c.3250A>G (p.Arg1084Gly) c.1561A>G (p.Arg521Gly) | gnomAD v4 |
1 | g.99896327A>T | CA341328556 | AGL | c.3301A>T (p.Arg1101Trp) n.3512A>T c.3253A>T (p.Arg1085Trp) c.3250A>T (p.Arg1084Trp) c.1561A>T (p.Arg521Trp) | |
1 | g.99896328G>A | CA341328557 | AGL | c.3302G>A (p.Arg1101Lys) n.3513G>A c.3254G>A (p.Arg1085Lys) c.3251G>A (p.Arg1084Lys) c.1562G>A (p.Arg521Lys) | ClinVar |
1 | g.99896328G>C | CA341328558 | AGL | c.3302G>C (p.Arg1101Thr) n.3513G>C c.3254G>C (p.Arg1085Thr) c.3251G>C (p.Arg1084Thr) c.1562G>C (p.Arg521Thr) | |
1 | g.99896328G>T | CA341328561 | AGL | c.3302G>T (p.Arg1101Met) n.3513G>T c.3254G>T (p.Arg1085Met) c.3251G>T (p.Arg1084Met) c.1562G>T (p.Arg521Met) | |
1 | g.99896329G>A | CA419087174 | AGL | c.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 |
1 | g.99896329G>C | CA341328564 | AGL | c.3303G>C (p.Arg1101Ser) n.3514G>C c.3255G>C (p.Arg1085Ser) c.3252G>C (p.Arg1084Ser) c.1563G>C (p.Arg521Ser) | |
1 | g.99896329G= | CA1183935274 | AGL | c.3303G= (p.Arg1101=) n.3514G= c.3255G= (p.Arg1085=) c.3252G= (p.Arg1084=) c.1563G= (p.Arg521=) | |
1 | g.99896329G>T | CA341328565 | AGL | c.3303G>T (p.Arg1101Ser) n.3514G>T c.3255G>T (p.Arg1085Ser) c.3252G>T (p.Arg1084Ser) c.1563G>T (p.Arg521Ser) | |
1 | g.99896330G>A | CA341328568 | AGL | c.3304G>A (p.Asp1102Asn) n.3515G>A c.3256G>A (p.Asp1086Asn) c.3253G>A (p.Asp1085Asn) c.1564G>A (p.Asp522Asn) | |
1 | g.99896330G>C | CA341328571 | AGL | c.3304G>C (p.Asp1102His) n.3515G>C c.3256G>C (p.Asp1086His) c.3253G>C (p.Asp1085His) c.1564G>C (p.Asp522His) | |
1 | g.99896330G>T | CA341328573 | AGL | c.3304G>T (p.Asp1102Tyr) n.3515G>T c.3256G>T (p.Asp1086Tyr) c.3253G>T (p.Asp1085Tyr) c.1564G>T (p.Asp522Tyr) | gnomAD v4 |
1 | g.99896331A= | CA1183935275 | AGL | c.3305A= (p.Asp1102=) n.3516A= c.3257A= (p.Asp1086=) c.3254A= (p.Asp1085=) c.1565A= (p.Asp522=) | |
1 | g.99896331A>C | CA341328584 | AGL | c.3305A>C (p.Asp1102Ala) n.3516A>C c.3257A>C (p.Asp1086Ala) c.3254A>C (p.Asp1085Ala) c.1565A>C (p.Asp522Ala) | |
1 | g.99896331A>G | CA341328582 | AGL | c.3305A>G (p.Asp1102Gly) n.3516A>G c.3257A>G (p.Asp1086Gly) c.3254A>G (p.Asp1085Gly) c.1565A>G (p.Asp522Gly) | dbSNP |
1 | g.99896331A>T | CA341328579 | AGL | c.3305A>T (p.Asp1102Val) n.3516A>T c.3257A>T (p.Asp1086Val) c.3254A>T (p.Asp1085Val) c.1565A>T (p.Asp522Val) | |
1 | g.99896332T>A | CA341328597 | AGL | c.3306T>A (p.Asp1102Glu) n.3517T>A c.3258T>A (p.Asp1086Glu) c.3255T>A (p.Asp1085Glu) c.1566T>A (p.Asp522Glu) | |
1 | g.99896332T>C | CA419087188 | AGL | c.3306T>C (p.Asp1102=) n.3517T>C c.3258T>C (p.Asp1086=) c.3255T>C (p.Asp1085=) c.1566T>C (p.Asp522=) | |
1 | g.99896332T>G | CA341328604 | AGL | c.3306T>G (p.Asp1102Glu) n.3517T>G c.3258T>G (p.Asp1086Glu) c.3255T>G (p.Asp1085Glu) c.1566T>G (p.Asp522Glu) | |
1 | g.99896333A>C | CA341328607 | AGL | c.3307A>C (p.Thr1103Pro) n.3518A>C c.3259A>C (p.Thr1087Pro) c.3256A>C (p.Thr1086Pro) c.1567A>C (p.Thr523Pro) | |
1 | g.99896333A>G | CA341328609 | AGL | c.3307A>G (p.Thr1103Ala) n.3518A>G c.3259A>G (p.Thr1087Ala) c.3256A>G (p.Thr1086Ala) c.1567A>G (p.Thr523Ala) | gnomAD v4 |
1 | g.99896333A>T | CA341328608 | AGL | c.3307A>T (p.Thr1103Ser) n.3518A>T c.3259A>T (p.Thr1087Ser) c.3256A>T (p.Thr1086Ser) c.1567A>T (p.Thr523Ser) | |
1 | g.99896334C>A | CA341328610 | AGL | c.3308C>A (p.Thr1103Asn) n.3519C>A c.3260C>A (p.Thr1087Asn) c.3257C>A (p.Thr1086Asn) c.1568C>A (p.Thr523Asn) | |
1 | g.99896334C= | CA1183935276 | AGL | c.3308C= (p.Thr1103=) n.3519C= c.3260C= (p.Thr1087=) c.3257C= (p.Thr1086=) c.1568C= (p.Thr523=) | |
1 | g.99896334C>G | CA967045 | AGL | c.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 |
1 | g.99896334C>T | CA341328611 | AGL | c.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 |
1 | g.99896335T>A | CA419087200 | AGL | c.3309T>A (p.Thr1103=) n.3520T>A c.3261T>A (p.Thr1087=) c.3258T>A (p.Thr1086=) c.1569T>A (p.Thr523=) | |
1 | g.99896335T>C | CA419087202 | AGL | c.3309T>C (p.Thr1103=) n.3520T>C c.3261T>C (p.Thr1087=) c.3258T>C (p.Thr1086=) c.1569T>C (p.Thr523=) | ClinVar |
1 | g.99896335T>G | CA419087203 | AGL | c.3309T>G (p.Thr1103=) n.3520T>G c.3261T>G (p.Thr1087=) c.3258T>G (p.Thr1086=) c.1569T>G (p.Thr523=) | |
1 | g.99896336T>A | CA341328612 | AGL | c.3310T>A (p.Phe1104Ile) n.3521T>A c.3262T>A (p.Phe1088Ile) c.3259T>A (p.Phe1087Ile) c.1570T>A (p.Phe524Ile) | |
1 | g.99896336T>C | CA341328617 | AGL | c.3310T>C (p.Phe1104Leu) n.3521T>C c.3262T>C (p.Phe1088Leu) c.3259T>C (p.Phe1087Leu) c.1570T>C (p.Phe524Leu) | |
1 | g.99896336T>G | CA341328614 | AGL | c.3310T>G (p.Phe1104Val) n.3521T>G c.3262T>G (p.Phe1088Val) c.3259T>G (p.Phe1087Val) c.1570T>G (p.Phe524Val) | ClinVar dbSNP |
1 | g.99896336T= | CA1183935277 | AGL | c.3310T= (p.Phe1104=) n.3521T= c.3262T= (p.Phe1088=) c.3259T= (p.Phe1087=) c.1570T= (p.Phe524=) | |
1 | g.99896337T>A | CA341328619 | AGL | c.3311T>A (p.Phe1104Tyr) n.3522T>A c.3263T>A (p.Phe1088Tyr) c.3260T>A (p.Phe1087Tyr) c.1571T>A (p.Phe524Tyr) | |
1 | g.99896337T>C | CA341328625 | AGL | c.3311T>C (p.Phe1104Ser) n.3522T>C c.3263T>C (p.Phe1088Ser) c.3260T>C (p.Phe1087Ser) c.1571T>C (p.Phe524Ser) | |
1 | g.99896337T>G | CA341328621 | AGL | c.3311T>G (p.Phe1104Cys) n.3522T>G c.3263T>G (p.Phe1088Cys) c.3260T>G (p.Phe1087Cys) c.1571T>G (p.Phe524Cys) | ClinVar dbSNP |
1 | g.99896337T= | CA1183935278 | AGL | c.3311T= (p.Phe1104=) n.3522T= c.3263T= (p.Phe1088=) c.3260T= (p.Phe1087=) c.1571T= (p.Phe524=) | |
1 | g.99896338T>A | CA341328628 | AGL | c.3312T>A (p.Phe1104Leu) n.3523T>A c.3264T>A (p.Phe1088Leu) c.3261T>A (p.Phe1087Leu) c.1572T>A (p.Phe524Leu) | |
1 | g.99896338T>C | CA419087213 | AGL | c.3312T>C (p.Phe1104=) n.3523T>C c.3264T>C (p.Phe1088=) c.3261T>C (p.Phe1087=) c.1572T>C (p.Phe524=) | |
1 | g.99896338T>G | CA341328631 | AGL | c.3312T>G (p.Phe1104Leu) n.3523T>G c.3264T>G (p.Phe1088Leu) c.3261T>G (p.Phe1087Leu) c.1572T>G (p.Phe524Leu) | |
1 | g.99896339A>C | CA341328633 | AGL | c.3313A>C (p.Ile1105Leu) n.3524A>C c.3265A>C (p.Ile1089Leu) c.3262A>C (p.Ile1088Leu) c.1573A>C (p.Ile525Leu) | |
1 | g.99896339A>G | CA341328636 | AGL | c.3313A>G (p.Ile1105Val) n.3524A>G c.3265A>G (p.Ile1089Val) c.3262A>G (p.Ile1088Val) c.1573A>G (p.Ile525Val) | dbSNP |
1 | g.99896339A>T | CA341328637 | AGL | c.3313A>T (p.Ile1105Phe) n.3524A>T c.3265A>T (p.Ile1089Phe) c.3262A>T (p.Ile1088Phe) c.1573A>T (p.Ile525Phe) | |
1 | g.99896340T>A | CA341328639 | AGL | c.3314T>A (p.Ile1105Asn) n.3525T>A c.3266T>A (p.Ile1089Asn) c.3263T>A (p.Ile1088Asn) c.1574T>A (p.Ile525Asn) | |
1 | g.99896340T>C | CA341328641 | AGL | c.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 |
1 | g.99896340T>G | CA341328643 | AGL | c.3314T>G (p.Ile1105Ser) n.3525T>G c.3266T>G (p.Ile1089Ser) c.3263T>G (p.Ile1088Ser) c.1574T>G (p.Ile525Ser) | |
1 | g.99896340T= | CA1183935279 | AGL | c.3314T= (p.Ile1105=) n.3525T= c.3266T= (p.Ile1089=) c.3263T= (p.Ile1088=) c.1574T= (p.Ile525=) | |
1 | g.99896341T>A | CA419087223 | AGL | c.3315T>A (p.Ile1105=) n.3526T>A c.3267T>A (p.Ile1089=) c.3264T>A (p.Ile1088=) c.1575T>A (p.Ile525=) | |
1 | g.99896341T>C | CA419087221 | AGL | c.3315T>C (p.Ile1105=) n.3526T>C c.3267T>C (p.Ile1089=) c.3264T>C (p.Ile1088=) c.1575T>C (p.Ile525=) | |
1 | g.99896341T>G | CA341328647 | AGL | c.3315T>G (p.Ile1105Met) n.3526T>G c.3267T>G (p.Ile1089Met) c.3264T>G (p.Ile1088Met) c.1575T>G (p.Ile525Met) | |
1 | g.99896342G>A | CA967046 | AGL | c.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 |
1 | g.99896342G>C | CA341328652 | AGL | c.3316G>C (p.Ala1106Pro) n.3527G>C c.3268G>C (p.Ala1090Pro) c.3265G>C (p.Ala1089Pro) c.1576G>C (p.Ala526Pro) | |
1 | g.99896342G= | CA1183935280 | AGL | c.3316G= (p.Ala1106=) n.3527G= c.3268G= (p.Ala1090=) c.3265G= (p.Ala1089=) c.1576G= (p.Ala526=) | |
1 | g.99896342G>T | CA341328654 | AGL | c.3316G>T (p.Ala1106Ser) n.3527G>T c.3268G>T (p.Ala1090Ser) c.3265G>T (p.Ala1089Ser) c.1576G>T (p.Ala526Ser) | |
1 | g.99896343C>A | CA341328669 | AGL | c.3317C>A (p.Ala1106Glu) n.3528C>A c.3269C>A (p.Ala1090Glu) c.3266C>A (p.Ala1089Glu) c.1577C>A (p.Ala526Glu) | |
1 | g.99896343C>G | CA341328659 | AGL | c.3317C>G (p.Ala1106Gly) n.3528C>G c.3269C>G (p.Ala1090Gly) c.3266C>G (p.Ala1089Gly) c.1577C>G (p.Ala526Gly) | |
1 | g.99896343C>T | CA341328663 | AGL | c.3317C>T (p.Ala1106Val) n.3528C>T c.3269C>T (p.Ala1090Val) c.3266C>T (p.Ala1089Val) c.1577C>T (p.Ala526Val) | |
1 | g.99896343_99896347del | CA2697552550 | AGL | c.3317_3321del (p.Ala1106GlufsTer?) n.3528_3532del c.3269_3273del (p.Ala1090GlufsTer?) c.3266_3270del (p.Ala1089GlufsTer?) c.1577_1581del (p.Ala526GlufsTer?) | ClinVar |
1 | g.99896344A= | CA1183935281 | AGL | c.3318A= (p.Ala1106=) n.3529A= c.3270A= (p.Ala1090=) c.3267A= (p.Ala1089=) c.1578A= (p.Ala526=) | |
1 | g.99896344A>C | CA419087235 | AGL | c.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 |
1 | g.99896344A>G | CA419087237 | AGL | c.3318A>G (p.Ala1106=) n.3529A>G c.3270A>G (p.Ala1090=) c.3267A>G (p.Ala1089=) c.1578A>G (p.Ala526=) | |
1 | g.99896344A>T | CA419087240 | AGL | c.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 |
1 | g.99896345C>A | CA341328672 | AGL | c.3319C>A (p.Leu1107Ile) n.3530C>A c.3271C>A (p.Leu1091Ile) c.3268C>A (p.Leu1090Ile) c.1579C>A (p.Leu527Ile) | |
1 | g.99896345C>G | CA341328674 | AGL | c.3319C>G (p.Leu1107Val) n.3530C>G c.3271C>G (p.Leu1091Val) c.3268C>G (p.Leu1090Val) c.1579C>G (p.Leu527Val) | |
1 | g.99896345C>T | CA341328676 | AGL | c.3319C>T (p.Leu1107Phe) n.3530C>T c.3271C>T (p.Leu1091Phe) c.3268C>T (p.Leu1090Phe) c.1579C>T (p.Leu527Phe) | ClinVar |
1 | g.99896346T>A | CA341328677 | AGL | c.3320T>A (p.Leu1107His) n.3531T>A c.3272T>A (p.Leu1091His) c.3269T>A (p.Leu1090His) c.1580T>A (p.Leu527His) | |
1 | g.99896346T>C | CA341328678 | AGL | c.3320T>C (p.Leu1107Pro) n.3531T>C c.3272T>C (p.Leu1091Pro) c.3269T>C (p.Leu1090Pro) c.1580T>C (p.Leu527Pro) | |
1 | g.99896346T>G | CA341328682 | AGL | c.3320T>G (p.Leu1107Arg) n.3531T>G c.3272T>G (p.Leu1091Arg) c.3269T>G (p.Leu1090Arg) c.1580T>G (p.Leu527Arg) | |
1 | g.99896347T>A | CA419087248 | AGL | c.3321T>A (p.Leu1107=) n.3532T>A c.3273T>A (p.Leu1091=) c.3270T>A (p.Leu1090=) c.1581T>A (p.Leu527=) | |
1 | g.99896347T>C | CA419087250 | AGL | c.3321T>C (p.Leu1107=) n.3532T>C c.3273T>C (p.Leu1091=) c.3270T>C (p.Leu1090=) c.1581T>C (p.Leu527=) | |
1 | g.99896347T>G | CA419087252 | AGL | c.3321T>G (p.Leu1107=) n.3532T>G c.3273T>G (p.Leu1091=) c.3270T>G (p.Leu1090=) c.1581T>G (p.Leu527=) | |
1 | g.99896347T= | CA1183935282 | AGL | c.3321T= (p.Leu1107=) n.3532T= c.3273T= (p.Leu1091=) c.3270T= (p.Leu1090=) c.1581T= (p.Leu527=) | |
1 | g.99896348A>C | CA419087254 | AGL | c.3322A>C (p.Arg1108=) n.3533A>C c.3274A>C (p.Arg1092=) c.3271A>C (p.Arg1091=) c.1582A>C (p.Arg528=) | |
1 | g.99896348A>G | CA341328685 | AGL | c.3322A>G (p.Arg1108Gly) n.3533A>G c.3274A>G (p.Arg1092Gly) c.3271A>G (p.Arg1091Gly) c.1582A>G (p.Arg528Gly) | |
1 | g.99896348A>T | CA341328690 | AGL | c.3322A>T (p.Arg1108Ter) n.3533A>T c.3274A>T (p.Arg1092Ter) c.3271A>T (p.Arg1091Ter) c.1582A>T (p.Arg528Ter) | |
1 | g.99896348dup | CA916245274 | AGL | c.3322dup (p.Arg1108LysfsTer?) n.3533dup c.3274dup (p.Arg1092LysfsTer?) c.3271dup (p.Arg1091LysfsTer?) c.1582dup (p.Arg528LysfsTer?) | dbSNP |
1 | g.99896349G>A | CA341328699 | AGL | c.3323G>A (p.Arg1108Lys) n.3534G>A c.3275G>A (p.Arg1092Lys) c.3272G>A (p.Arg1091Lys) c.1583G>A (p.Arg528Lys) | |
1 | g.99896349G>C | CA341328700 | AGL | c.3323G>C (p.Arg1108Thr) n.3534G>C c.3275G>C (p.Arg1092Thr) c.3272G>C (p.Arg1091Thr) c.1583G>C (p.Arg528Thr) | dbSNP |
1 | g.99896349G= | CA1183935283 | AGL | c.3323G= (p.Arg1108=) n.3534G= c.3275G= (p.Arg1092=) c.3272G= (p.Arg1091=) c.1583G= (p.Arg528=) | |
1 | g.99896349G>T | CA341328711 | AGL | c.3323G>T (p.Arg1108Ile) n.3534G>T c.3275G>T (p.Arg1092Ile) c.3272G>T (p.Arg1091Ile) c.1583G>T (p.Arg528Ile) | |
1 | g.99896350A>C | CA341328715 | AGL | c.3324A>C (p.Arg1108Ser) n.3535A>C c.3276A>C (p.Arg1092Ser) c.3273A>C (p.Arg1091Ser) c.1584A>C (p.Arg528Ser) | |
1 | g.99896350A>G | CA419087262 | AGL | c.3324A>G (p.Arg1108=) n.3535A>G c.3276A>G (p.Arg1092=) c.3273A>G (p.Arg1091=) c.1584A>G (p.Arg528=) | |
1 | g.99896350A>T | CA341328740 | AGL | c.3324A>T (p.Arg1108Ser) n.3535A>T c.3276A>T (p.Arg1092Ser) c.3273A>T (p.Arg1091Ser) c.1584A>T (p.Arg528Ser) | |
1 | g.99896351G>A | CA341328744 | AGL | c.3325G>A (p.Gly1109Ser) n.3536G>A c.3277G>A (p.Gly1093Ser) c.3274G>A (p.Gly1092Ser) c.1585G>A (p.Gly529Ser) | |
1 | g.99896351G>C | CA341328751 | AGL | c.3325G>C (p.Gly1109Arg) n.3536G>C c.3277G>C (p.Gly1093Arg) c.3274G>C (p.Gly1092Arg) c.1585G>C (p.Gly529Arg) | |
1 | g.99896351G>T | CA341328755 | AGL | c.3325G>T (p.Gly1109Cys) n.3536G>T c.3277G>T (p.Gly1093Cys) c.3274G>T (p.Gly1092Cys) c.1585G>T (p.Gly529Cys) | |
1 | g.99896352G>A | CA341328760 | AGL | c.3326G>A (p.Gly1109Asp) n.3537G>A c.3278G>A (p.Gly1093Asp) c.3275G>A (p.Gly1092Asp) c.1586G>A (p.Gly529Asp) | |
1 | g.99896352G>C | CA341328769 | AGL | c.3326G>C (p.Gly1109Ala) n.3537G>C c.3278G>C (p.Gly1093Ala) c.3275G>C (p.Gly1092Ala) c.1586G>C (p.Gly529Ala) | |
1 | g.99896352G>T | CA341328778 | AGL | c.3326G>T (p.Gly1109Val) n.3537G>T c.3278G>T (p.Gly1093Val) c.3275G>T (p.Gly1092Val) c.1586G>T (p.Gly529Val) | |
1 | g.99896353T>A | CA419087273 | AGL | c.3327T>A (p.Gly1109=) n.3538T>A c.3279T>A (p.Gly1093=) c.3276T>A (p.Gly1092=) c.1587T>A (p.Gly529=) | |
1 | g.99896353T>C | CA419087274 | AGL | c.3327T>C (p.Gly1109=) n.3538T>C c.3279T>C (p.Gly1093=) c.3276T>C (p.Gly1092=) c.1587T>C (p.Gly529=) | |
1 | g.99896353T>G | CA419087276 | AGL | c.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 |
1 | g.99896353T= | CA1183935284 | AGL | c.3327T= (p.Gly1109=) n.3538T= c.3279T= (p.Gly1093=) c.3276T= (p.Gly1092=) c.1587T= (p.Gly529=) | |
1 | g.99896354A>C | CA341328783 | AGL | c.3328A>C (p.Ile1110Leu) n.3539A>C c.3280A>C (p.Ile1094Leu) c.3277A>C (p.Ile1093Leu) c.1588A>C (p.Ile530Leu) | |
1 | g.99896354A>G | CA341328784 | AGL | c.3328A>G (p.Ile1110Val) n.3539A>G c.3280A>G (p.Ile1094Val) c.3277A>G (p.Ile1093Val) c.1588A>G (p.Ile530Val) | |
1 | g.99896354A>T | CA341328785 | AGL | c.3328A>T (p.Ile1110Leu) n.3539A>T c.3280A>T (p.Ile1094Leu) c.3277A>T (p.Ile1093Leu) c.1588A>T (p.Ile530Leu) | |
1 | g.99896355del | CA2646738179 | AGL | c.3329del (p.Ile1110AsnfsTer3) n.3540del c.3281del (p.Ile1094AsnfsTer3) c.3278del (p.Ile1093AsnfsTer3) c.1589del (p.Ile530AsnfsTer3) | gnomAD v4 |
1 | g.99896355T>A | CA341328786 | AGL | c.3329T>A (p.Ile1110Lys) n.3540T>A c.3281T>A (p.Ile1094Lys) c.3278T>A (p.Ile1093Lys) c.1589T>A (p.Ile530Lys) | |
1 | g.99896355T>C | CA341328789 | AGL | c.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 |
1 | g.99896355T>G | CA341328792 | AGL | c.3329T>G (p.Ile1110Arg) n.3540T>G c.3281T>G (p.Ile1094Arg) c.3278T>G (p.Ile1093Arg) c.1589T>G (p.Ile530Arg) | |
1 | g.99896355T= | CA1183935285 | AGL | c.3329T= (p.Ile1110=) n.3540T= c.3281T= (p.Ile1094=) c.3278T= (p.Ile1093=) c.1589T= (p.Ile530=) | |
1 | g.99896356A>C | CA419087281 | AGL | c.3330A>C (p.Ile1110=) n.3541A>C c.3282A>C (p.Ile1094=) c.3279A>C (p.Ile1093=) c.1590A>C (p.Ile530=) | |
1 | g.99896356A>G | CA341328795 | AGL | c.3330A>G (p.Ile1110Met) n.3541A>G c.3282A>G (p.Ile1094Met) c.3279A>G (p.Ile1093Met) c.1590A>G (p.Ile530Met) | |
1 | g.99896356A>T | CA419087284 | AGL | c.3330A>T (p.Ile1110=) n.3541A>T c.3282A>T (p.Ile1094=) c.3279A>T (p.Ile1093=) c.1590A>T (p.Ile530=) | |
1 | g.99896357C>A | CA341328800 | AGL | c.3331C>A (p.Leu1111Met) n.3542C>A c.3283C>A (p.Leu1095Met) c.3280C>A (p.Leu1094Met) c.1591C>A (p.Leu531Met) | |
1 | g.99896357C= | CA1183935286 | AGL | c.3331C= (p.Leu1111=) n.3542C= c.3283C= (p.Leu1095=) c.3280C= (p.Leu1094=) c.1591C= (p.Leu531=) | |
1 | g.99896357C>G | CA341328815 | AGL | c.3331C>G (p.Leu1111Val) n.3542C>G c.3283C>G (p.Leu1095Val) c.3280C>G (p.Leu1094Val) c.1591C>G (p.Leu531Val) | dbSNP |
1 | g.99896357C>T | CA419087287 | AGL | c.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 |
1 | g.99896358T>A | CA341328818 | AGL | c.3332T>A (p.Leu1111Gln) n.3543T>A c.3284T>A (p.Leu1095Gln) c.3281T>A (p.Leu1094Gln) c.1592T>A (p.Leu531Gln) | |
1 | g.99896358T>C | CA341328819 | AGL | c.3332T>C (p.Leu1111Pro) n.3543T>C c.3284T>C (p.Leu1095Pro) c.3281T>C (p.Leu1094Pro) c.1592T>C (p.Leu531Pro) | |
1 | g.99896358T>G | CA341328820 | AGL | c.3332T>G (p.Leu1111Arg) n.3543T>G c.3284T>G (p.Leu1095Arg) c.3281T>G (p.Leu1094Arg) c.1592T>G (p.Leu531Arg) | |
1 | g.99896359G>A | CA419087292 | AGL | c.3333G>A (p.Leu1111=) n.3544G>A c.3285G>A (p.Leu1095=) c.3282G>A (p.Leu1094=) c.1593G>A (p.Leu531=) | ClinVar |
1 | g.99896359G>C | CA27534503 | AGL | c.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 |
1 | g.99896359G= | CA1183935287 | AGL | c.3333G= (p.Leu1111=) n.3544G= c.3285G= (p.Leu1095=) c.3282G= (p.Leu1094=) c.1593G= (p.Leu531=) | |
1 | g.99896359G>T | CA419087296 | AGL | c.3333G>T (p.Leu1111=) n.3544G>T c.3285G>T (p.Leu1095=) c.3282G>T (p.Leu1094=) c.1593G>T (p.Leu531=) | |
1 | g.99896360C>A | CA341328821 | AGL | c.3334C>A (p.Leu1112Met) n.3545C>A c.3286C>A (p.Leu1096Met) c.3283C>A (p.Leu1095Met) c.1594C>A (p.Leu532Met) | |
1 | g.99896360C>G | CA341328822 | AGL | c.3334C>G (p.Leu1112Val) n.3545C>G c.3286C>G (p.Leu1096Val) c.3283C>G (p.Leu1095Val) c.1594C>G (p.Leu532Val) | |
1 | g.99896360C>T | CA419087300 | AGL | c.3334C>T (p.Leu1112=) n.3545C>T c.3286C>T (p.Leu1096=) c.3283C>T (p.Leu1095=) c.1594C>T (p.Leu532=) | |
1 | g.99896361T>A | CA341328824 | AGL | c.3335T>A (p.Leu1112Gln) n.3546T>A c.3287T>A (p.Leu1096Gln) c.3284T>A (p.Leu1095Gln) c.1595T>A (p.Leu532Gln) | |
1 | g.99896361T>C | CA341328826 | AGL | c.3335T>C (p.Leu1112Pro) n.3546T>C c.3287T>C (p.Leu1096Pro) c.3284T>C (p.Leu1095Pro) c.1595T>C (p.Leu532Pro) | |
1 | g.99896361T>G | CA341328828 | AGL | c.3335T>G (p.Leu1112Arg) n.3546T>G c.3287T>G (p.Leu1096Arg) c.3284T>G (p.Leu1095Arg) c.1595T>G (p.Leu532Arg) | |
1 | g.99896362G>A | CA419087306 | AGL | c.3336G>A (p.Leu1112=) n.3547G>A c.3288G>A (p.Leu1096=) c.3285G>A (p.Leu1095=) c.1596G>A (p.Leu532=) | ClinVar |
1 | g.99896362G>C | CA419087310 | AGL | c.3336G>C (p.Leu1112=) n.3547G>C c.3288G>C (p.Leu1096=) c.3285G>C (p.Leu1095=) c.1596G>C (p.Leu532=) | |
1 | g.99896362G>T | CA419087308 | AGL | c.3336G>T (p.Leu1112=) n.3547G>T c.3288G>T (p.Leu1096=) c.3285G>T (p.Leu1095=) c.1596G>T (p.Leu532=) | |
1 | g.99896363A= | CA1183935288 | AGL | c.3337A= (p.Ile1113=) n.3548A= c.3289A= (p.Ile1097=) c.3286A= (p.Ile1096=) c.1597A= (p.Ile533=) | |
1 | g.99896363A>C | CA341328833 | AGL | c.3337A>C (p.Ile1113Leu) n.3548A>C c.3289A>C (p.Ile1097Leu) c.3286A>C (p.Ile1096Leu) c.1597A>C (p.Ile533Leu) | |
1 | g.99896363A>G | CA967047 | AGL | c.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 |
1 | g.99896363A>T | CA341328840 | AGL | c.3337A>T (p.Ile1113Phe) n.3548A>T c.3289A>T (p.Ile1097Phe) c.3286A>T (p.Ile1096Phe) c.1597A>T (p.Ile533Phe) | |
1 | g.99896364T>A | CA341328856 | AGL | c.3338T>A (p.Ile1113Asn) n.3549T>A c.3290T>A (p.Ile1097Asn) c.3287T>A (p.Ile1096Asn) c.1598T>A (p.Ile533Asn) | |
1 | g.99896364T>C | CA341328853 | AGL | c.3338T>C (p.Ile1113Thr) n.3549T>C c.3290T>C (p.Ile1097Thr) c.3287T>C (p.Ile1096Thr) c.1598T>C (p.Ile533Thr) | |
1 | g.99896364T>G | CA341328848 | AGL | c.3338T>G (p.Ile1113Ser) n.3549T>G c.3290T>G (p.Ile1097Ser) c.3287T>G (p.Ile1096Ser) c.1598T>G (p.Ile533Ser) | |
1 | g.99896365T>A | CA419087318 | AGL | c.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 |
1 | g.99896365T>C | CA419087320 | AGL | c.3339T>C (p.Ile1113=) n.3550T>C c.3291T>C (p.Ile1097=) c.3288T>C (p.Ile1096=) c.1599T>C (p.Ile533=) | |
1 | g.99896365T>G | CA341328858 | AGL | c.3339T>G (p.Ile1113Met) n.3550T>G c.3291T>G (p.Ile1097Met) c.3288T>G (p.Ile1096Met) c.1599T>G (p.Ile533Met) | |
1 | g.99896365T= | CA1183935289 | AGL | c.3339T= (p.Ile1113=) n.3550T= c.3291T= (p.Ile1097=) c.3288T= (p.Ile1096=) c.1599T= (p.Ile533=) | |
1 | g.99896366A>C | CA341328875 | AGL | c.3340A>C (p.Thr1114Pro) n.3551A>C c.3292A>C (p.Thr1098Pro) c.3289A>C (p.Thr1097Pro) c.1600A>C (p.Thr534Pro) | |
1 | g.99896366A>G | CA341328863 | AGL | c.3340A>G (p.Thr1114Ala) n.3551A>G c.3292A>G (p.Thr1098Ala) c.3289A>G (p.Thr1097Ala) c.1600A>G (p.Thr534Ala) | |
1 | g.99896366A>T | CA341328872 | AGL | c.3340A>T (p.Thr1114Ser) n.3551A>T c.3292A>T (p.Thr1098Ser) c.3289A>T (p.Thr1097Ser) c.1600A>T (p.Thr534Ser) | |
1 | g.99896367C>A | CA341328878 | AGL | c.3341C>A (p.Thr1114Asn) n.3552C>A c.3293C>A (p.Thr1098Asn) c.3290C>A (p.Thr1097Asn) c.1601C>A (p.Thr534Asn) | |
1 | g.99896367C>G | CA341328881 | AGL | c.3341C>G (p.Thr1114Ser) n.3552C>G c.3293C>G (p.Thr1098Ser) c.3290C>G (p.Thr1097Ser) c.1601C>G (p.Thr534Ser) | |
1 | g.99896367C>T | CA341328883 | AGL | c.3341C>T (p.Thr1114Ile) n.3552C>T c.3293C>T (p.Thr1098Ile) c.3290C>T (p.Thr1097Ile) c.1601C>T (p.Thr534Ile) | |
1 | g.99896368T>A | CA419087332 | AGL | c.3342T>A (p.Thr1114=) n.3553T>A c.3294T>A (p.Thr1098=) c.3291T>A (p.Thr1097=) c.1602T>A (p.Thr534=) | |
1 | g.99896368T>C | CA967048 | AGL | c.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 |
1 | g.99896368T>G | CA419087335 | AGL | c.3342T>G (p.Thr1114=) n.3553T>G c.3294T>G (p.Thr1098=) c.3291T>G (p.Thr1097=) c.1602T>G (p.Thr534=) | |
1 | g.99896368T= | CA1143668496 | AGL | c.3342T= (p.Thr1114=) n.3553T= c.3294T= (p.Thr1098=) c.3291T= (p.Thr1097=) c.1602T= (p.Thr534=) | |
1 | g.99896369G>A | CA967049 | AGL | c.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 |
1 | g.99896369G>C | CA341328894 | AGL | c.3343G>C (p.Gly1115Arg) n.3554G>C c.3295G>C (p.Gly1099Arg) c.3292G>C (p.Gly1098Arg) c.1603G>C (p.Gly535Arg) | |
1 | g.99896369G= | CA1139921708 | AGL | c.3343G= (p.Gly1115=) n.3554G= c.3295G= (p.Gly1099=) c.3292G= (p.Gly1098=) c.1603G= (p.Gly535=) | |
1 | g.99896369G>T | CA341328898 | AGL | c.3343G>T (p.Gly1115Ter) n.3554G>T c.3295G>T (p.Gly1099Ter) c.3292G>T (p.Gly1098Ter) c.1603G>T (p.Gly535Ter) | |
1 | g.99896370G>A | CA341328902 | AGL | c.3344G>A (p.Gly1115Glu) n.3555G>A c.3296G>A (p.Gly1099Glu) c.3293G>A (p.Gly1098Glu) c.1604G>A (p.Gly535Glu) | |
1 | g.99896370G>C | CA341328906 | AGL | c.3344G>C (p.Gly1115Ala) n.3555G>C c.3296G>C (p.Gly1099Ala) c.3293G>C (p.Gly1098Ala) c.1604G>C (p.Gly535Ala) | |
1 | g.99896370G>T | CA341328908 | AGL | c.3344G>T (p.Gly1115Val) n.3555G>T c.3296G>T (p.Gly1099Val) c.3293G>T (p.Gly1098Val) c.1604G>T (p.Gly535Val) | |
1 | g.99896371A= | CA1183935290 | AGL | c.3345A= (p.Gly1115=) n.3556A= c.3297A= (p.Gly1099=) c.3294A= (p.Gly1098=) c.1605A= (p.Gly535=) | |
1 | g.99896371A>C | CA419087344 | AGL | c.3345A>C (p.Gly1115=) n.3556A>C c.3297A>C (p.Gly1099=) c.3294A>C (p.Gly1098=) c.1605A>C (p.Gly535=) | |
1 | g.99896371A>G | CA419087346 | AGL | c.3345A>G (p.Gly1115=) n.3556A>G c.3297A>G (p.Gly1099=) c.3294A>G (p.Gly1098=) c.1605A>G (p.Gly535=) | |
1 | g.99896371A>T | CA967050 | AGL | c.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 |
1 | g.99896372C>A | CA341328912 | AGL | c.3346C>A (p.Arg1116Ser) n.3557C>A c.3298C>A (p.Arg1100Ser) c.3295C>A (p.Arg1099Ser) c.1606C>A (p.Arg536Ser) | gnomAD v4 |
1 | g.99896372C= | CA1183935291 | AGL | c.3346C= (p.Arg1116=) n.3557C= c.3298C= (p.Arg1100=) c.3295C= (p.Arg1099=) c.1606C= (p.Arg536=) | |
1 | g.99896372C>G | CA341328917 | AGL | c.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 |
1 | g.99896372C>T | CA967051 | AGL | c.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 |
1 | g.99896373G>A | CA967053 | AGL | c.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 |
1 | g.99896373G>C | CA967052 | AGL | c.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 |
1 | g.99896373G= | CA1148412285 | AGL | c.3347G= (p.Arg1116=) n.3558G= c.3299G= (p.Arg1100=) c.3296G= (p.Arg1099=) c.1607G= (p.Arg536=) | |
1 | g.99896373G>T | CA27534565 | AGL | c.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 |
1 | g.99896374C>A | CA419087358 | AGL | c.3348C>A (p.Arg1116=) n.3559C>A c.3300C>A (p.Arg1100=) c.3297C>A (p.Arg1099=) c.1608C>A (p.Arg536=) | |
1 | g.99896374C= | CA1183935292 | AGL | c.3348C= (p.Arg1116=) n.3559C= c.3300C= (p.Arg1100=) c.3297C= (p.Arg1099=) c.1608C= (p.Arg536=) | |
1 | g.99896374C>G | CA967054 | AGL | c.3348C>G (p.Arg1116=) n.3559C>G c.3300C>G (p.Arg1100=) c.3297C>G (p.Arg1099=) c.1608C>G (p.Arg536=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99896374C>T | CA419087360 | AGL | c.3348C>T (p.Arg1116=) n.3559C>T c.3300C>T (p.Arg1100=) c.3297C>T (p.Arg1099=) c.1608C>T (p.Arg536=) | gnomAD v4 |
1 | g.99896375T>A | CA341328927 | AGL | c.3349T>A (p.Tyr1117Asn) n.3560T>A c.3301T>A (p.Tyr1101Asn) c.3298T>A (p.Tyr1100Asn) c.1609T>A (p.Tyr537Asn) | |
1 | g.99896375T>C | CA341328932 | AGL | c.3349T>C (p.Tyr1117His) n.3560T>C c.3301T>C (p.Tyr1101His) c.3298T>C (p.Tyr1100His) c.1609T>C (p.Tyr537His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896375T>G | CA341328935 | AGL | c.3349T>G (p.Tyr1117Asp) n.3560T>G c.3301T>G (p.Tyr1101Asp) c.3298T>G (p.Tyr1100Asp) c.1609T>G (p.Tyr537Asp) | gnomAD v4 |
1 | g.99896375T= | CA1183935293 | AGL | c.3349T= (p.Tyr1117=) n.3560T= c.3301T= (p.Tyr1101=) c.3298T= (p.Tyr1100=) c.1609T= (p.Tyr537=) | |
1 | g.99896375dup | CA913046835 | AGL | c.3349dup (p.Tyr1117LeufsTer22) n.3560dup c.3301dup (p.Tyr1101LeufsTer22) c.3298dup (p.Tyr1100LeufsTer22) c.1609dup (p.Tyr537LeufsTer22) | |
1 | g.99896376A= | CA1183935294 | AGL | c.3350A= (p.Tyr1117=) n.3561A= c.3302A= (p.Tyr1101=) c.3299A= (p.Tyr1100=) c.1610A= (p.Tyr537=) | |
1 | g.99896376A>C | CA341328936 | AGL | c.3350A>C (p.Tyr1117Ser) n.3561A>C c.3302A>C (p.Tyr1101Ser) c.3299A>C (p.Tyr1100Ser) c.1610A>C (p.Tyr537Ser) | gnomAD v4 |
1 | g.99896376A>G | CA341328937 | AGL | c.3350A>G (p.Tyr1117Cys) n.3561A>G c.3302A>G (p.Tyr1101Cys) c.3299A>G (p.Tyr1100Cys) c.1610A>G (p.Tyr537Cys) | dbSNP |
1 | g.99896376A>T | CA341328943 | AGL | c.3350A>T (p.Tyr1117Phe) n.3561A>T c.3302A>T (p.Tyr1101Phe) c.3299A>T (p.Tyr1100Phe) c.1610A>T (p.Tyr537Phe) | |
1 | g.99896376dup | CA524709171 | AGL | c.3350dup (p.Tyr1117Ter) n.3561dup c.3302dup (p.Tyr1101Ter) c.3299dup (p.Tyr1100Ter) c.1610dup (p.Tyr537Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896377T>A | CA341328951 | AGL | c.3351T>A (p.Tyr1117Ter) n.3562T>A c.3303T>A (p.Tyr1101Ter) c.3300T>A (p.Tyr1100Ter) c.1611T>A (p.Tyr537Ter) | |
1 | g.99896377T>C | CA419087371 | AGL | c.3351T>C (p.Tyr1117=) n.3562T>C c.3303T>C (p.Tyr1101=) c.3300T>C (p.Tyr1100=) c.1611T>C (p.Tyr537=) | ClinVar dbSNP gnomAD v4 |
1 | g.99896377T>G | CA341328946 | AGL | c.3351T>G (p.Tyr1117Ter) n.3562T>G c.3303T>G (p.Tyr1101Ter) c.3300T>G (p.Tyr1100Ter) c.1611T>G (p.Tyr537Ter) | |
1 | g.99896378G>A | CA341328954 | AGL | c.3352G>A (p.Val1118Ile) n.3563G>A c.3304G>A (p.Val1102Ile) c.3301G>A (p.Val1101Ile) c.1612G>A (p.Val538Ile) | |
1 | g.99896378G>C | CA341328957 | AGL | c.3352G>C (p.Val1118Leu) n.3563G>C c.3304G>C (p.Val1102Leu) c.3301G>C (p.Val1101Leu) c.1612G>C (p.Val538Leu) | |
1 | g.99896378G>T | CA341328960 | AGL | c.3352G>T (p.Val1118Leu) n.3563G>T c.3304G>T (p.Val1102Leu) c.3301G>T (p.Val1101Leu) c.1612G>T (p.Val538Leu) | |
1 | g.99896379T>A | CA967055 | AGL | c.3353T>A (p.Val1118Glu) n.3564T>A c.3305T>A (p.Val1102Glu) c.3302T>A (p.Val1101Glu) c.1613T>A (p.Val538Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99896379T>C | CA341328963 | AGL | c.3353T>C (p.Val1118Ala) n.3564T>C c.3305T>C (p.Val1102Ala) c.3302T>C (p.Val1101Ala) c.1613T>C (p.Val538Ala) | |
1 | g.99896379T>G | CA341328965 | AGL | c.3353T>G (p.Val1118Gly) n.3564T>G c.3305T>G (p.Val1102Gly) c.3302T>G (p.Val1101Gly) c.1613T>G (p.Val538Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99896379T= | CA1149120825 | AGL | c.3353T= (p.Val1118=) n.3564T= c.3305T= (p.Val1102=) c.3302T= (p.Val1101=) c.1613T= (p.Val538=) |