Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53234897_53235077delCA2499226779IQSEC2c.3770_3950del (p.Phe1257SerfsTer?)
c.1453+708_1453+888del
c.962+708_962+888del
c.316+1247_316+1427del (n.316+1247_316+1427del)
c.514+1247_514+1427del (n.514+1247_514+1427del)
c.*96_*276del (n.*96_*276del)
c.3611_3791del (p.Phe1204SerfsTer?)
c.3581_3761del (p.Phe1194SerfsTer?)
c.3707_3887del (p.Phe1236SerfsTer?)
c.2996_3176del (p.Phe999SerfsTer?)
c.3597+708_3597+888del (n.3597+708_3597+888del)
c.3547+1247_3547+1427del (n.3547+1247_3547+1427del)
c.2933_3113del (p.Phe978SerfsTer?)
c.2900_3080del (p.Phe967SerfsTer?)
c.3113_3293del (p.Phe1038SerfsTer?)
 ClinVar dbSNP
Xg.53234961_53235025delCA2695234289IQSEC2c.3828_3892del (p.Thr1278SerfsTer4)
c.1453+766_1453+830del
c.962+766_962+830del
c.316+1305_316+1369del (n.316+1305_316+1369del)
c.514+1305_514+1369del (n.514+1305_514+1369del)
c.*154_*218del (n.*154_*218del)
c.3669_3733del (p.Thr1225SerfsTer4)
c.3639_3703del (p.Thr1215SerfsTer4)
c.3765_3829del (p.Thr1257SerfsTer4)
c.3054_3118del (p.Thr1020SerfsTer4)
c.3597+766_3597+830del (n.3597+766_3597+830del)
c.3547+1305_3547+1369del (n.3547+1305_3547+1369del)
c.2991_3055del (p.Thr999SerfsTer4)
c.2958_3022del (p.Thr988SerfsTer4)
c.3171_3235del (p.Thr1059SerfsTer4)
Xg.53234977A>CCA413141333IQSEC2c.3868T>G (p.Ser1290Ala)
c.1453+806T>G
c.962+806T>G
c.316+1345T>G (n.316+1345T>G)
c.514+1345T>G (n.514+1345T>G)
c.*194T>G (n.*194T>G)
c.3709T>G (p.Ser1237Ala)
c.3679T>G (p.Ser1227Ala)
c.3805T>G (p.Ser1269Ala)
c.3094T>G (p.Ser1032Ala)
c.3597+806T>G (n.3597+806T>G)
c.3547+1345T>G (n.3547+1345T>G)
c.3031T>G (p.Ser1011Ala)
c.2998T>G (p.Ser1000Ala)
c.3211T>G (p.Ser1071Ala)
Xg.53234977A>GCA413141336IQSEC2c.3868T>C (p.Ser1290Pro)
c.1453+806T>C
c.962+806T>C
c.316+1345T>C (n.316+1345T>C)
c.514+1345T>C (n.514+1345T>C)
c.*194T>C (n.*194T>C)
c.3709T>C (p.Ser1237Pro)
c.3679T>C (p.Ser1227Pro)
c.3805T>C (p.Ser1269Pro)
c.3094T>C (p.Ser1032Pro)
c.3597+806T>C (n.3597+806T>C)
c.3547+1345T>C (n.3547+1345T>C)
c.3031T>C (p.Ser1011Pro)
c.2998T>C (p.Ser1000Pro)
c.3211T>C (p.Ser1071Pro)
Xg.53234977A>TCA413141335IQSEC2c.3868T>A (p.Ser1290Thr)
c.1453+806T>A
c.962+806T>A
c.316+1345T>A (n.316+1345T>A)
c.514+1345T>A (n.514+1345T>A)
c.*194T>A (n.*194T>A)
c.3709T>A (p.Ser1237Thr)
c.3679T>A (p.Ser1227Thr)
c.3805T>A (p.Ser1269Thr)
c.3094T>A (p.Ser1032Thr)
c.3597+806T>A (n.3597+806T>A)
c.3547+1345T>A (n.3547+1345T>A)
c.3031T>A (p.Ser1011Thr)
c.2998T>A (p.Ser1000Thr)
c.3211T>A (p.Ser1071Thr)
Xg.53234978A=CA2429770659IQSEC2c.3867T= (p.Ser1289=)
c.1453+805T=
c.962+805T=
c.316+1344T= (n.316+1344T=)
c.514+1344T= (n.514+1344T=)
c.*193T= (n.*193T=)
c.3708T= (p.Ser1236=)
c.3678T= (p.Ser1226=)
c.3804T= (p.Ser1268=)
c.3093T= (p.Ser1031=)
c.3597+805T= (n.3597+805T=)
c.3547+1344T= (n.3547+1344T=)
c.3030T= (p.Ser1010=)
c.2997T= (p.Ser999=)
c.3210T= (p.Ser1070=)
Xg.53234978A>CCA516673702IQSEC2c.3867T>G (p.Ser1289=)
c.1453+805T>G
c.962+805T>G
c.316+1344T>G (n.316+1344T>G)
c.514+1344T>G (n.514+1344T>G)
c.*193T>G (n.*193T>G)
c.3708T>G (p.Ser1236=)
c.3678T>G (p.Ser1226=)
c.3804T>G (p.Ser1268=)
c.3093T>G (p.Ser1031=)
c.3597+805T>G (n.3597+805T>G)
c.3547+1344T>G (n.3547+1344T>G)
c.3030T>G (p.Ser1010=)
c.2997T>G (p.Ser999=)
c.3210T>G (p.Ser1070=)
Xg.53234978A>GCA516673700IQSEC2c.3867T>C (p.Ser1289=)
c.1453+805T>C
c.962+805T>C
c.316+1344T>C (n.316+1344T>C)
c.514+1344T>C (n.514+1344T>C)
c.*193T>C (n.*193T>C)
c.3708T>C (p.Ser1236=)
c.3678T>C (p.Ser1226=)
c.3804T>C (p.Ser1268=)
c.3093T>C (p.Ser1031=)
c.3597+805T>C (n.3597+805T>C)
c.3547+1344T>C (n.3547+1344T>C)
c.3030T>C (p.Ser1010=)
c.2997T>C (p.Ser999=)
c.3210T>C (p.Ser1070=)
 ClinVar dbSNP
Xg.53234978A>TCA516673698IQSEC2c.3867T>A (p.Ser1289=)
c.1453+805T>A
c.962+805T>A
c.316+1344T>A (n.316+1344T>A)
c.514+1344T>A (n.514+1344T>A)
c.*193T>A (n.*193T>A)
c.3708T>A (p.Ser1236=)
c.3678T>A (p.Ser1226=)
c.3804T>A (p.Ser1268=)
c.3093T>A (p.Ser1031=)
c.3597+805T>A (n.3597+805T>A)
c.3547+1344T>A (n.3547+1344T>A)
c.3030T>A (p.Ser1010=)
c.2997T>A (p.Ser999=)
c.3210T>A (p.Ser1070=)
Xg.53234979G>ACA413141337IQSEC2c.3866C>T (p.Ser1289Phe)
c.1453+804C>T
c.962+804C>T
c.316+1343C>T (n.316+1343C>T)
c.514+1343C>T (n.514+1343C>T)
c.*192C>T (n.*192C>T)
c.3707C>T (p.Ser1236Phe)
c.3677C>T (p.Ser1226Phe)
c.3803C>T (p.Ser1268Phe)
c.3092C>T (p.Ser1031Phe)
c.3597+804C>T (n.3597+804C>T)
c.3547+1343C>T (n.3547+1343C>T)
c.3029C>T (p.Ser1010Phe)
c.2996C>T (p.Ser999Phe)
c.3209C>T (p.Ser1070Phe)
Xg.53234979G>CCA413141338IQSEC2c.3866C>G (p.Ser1289Cys)
c.1453+804C>G
c.962+804C>G
c.316+1343C>G (n.316+1343C>G)
c.514+1343C>G (n.514+1343C>G)
c.*192C>G (n.*192C>G)
c.3707C>G (p.Ser1236Cys)
c.3677C>G (p.Ser1226Cys)
c.3803C>G (p.Ser1268Cys)
c.3092C>G (p.Ser1031Cys)
c.3597+804C>G (n.3597+804C>G)
c.3547+1343C>G (n.3547+1343C>G)
c.3029C>G (p.Ser1010Cys)
c.2996C>G (p.Ser999Cys)
c.3209C>G (p.Ser1070Cys)
Xg.53234979G>TCA413141340IQSEC2c.3866C>A (p.Ser1289Tyr)
c.1453+804C>A
c.962+804C>A
c.316+1343C>A (n.316+1343C>A)
c.514+1343C>A (n.514+1343C>A)
c.*192C>A (n.*192C>A)
c.3707C>A (p.Ser1236Tyr)
c.3677C>A (p.Ser1226Tyr)
c.3803C>A (p.Ser1268Tyr)
c.3092C>A (p.Ser1031Tyr)
c.3597+804C>A (n.3597+804C>A)
c.3547+1343C>A (n.3547+1343C>A)
c.3029C>A (p.Ser1010Tyr)
c.2996C>A (p.Ser999Tyr)
c.3209C>A (p.Ser1070Tyr)
Xg.53234980A>CCA413141342IQSEC2c.3865T>G (p.Ser1289Ala)
c.1453+803T>G
c.962+803T>G
c.316+1342T>G (n.316+1342T>G)
c.514+1342T>G (n.514+1342T>G)
c.*191T>G (n.*191T>G)
c.3706T>G (p.Ser1236Ala)
c.3676T>G (p.Ser1226Ala)
c.3802T>G (p.Ser1268Ala)
c.3091T>G (p.Ser1031Ala)
c.3597+803T>G (n.3597+803T>G)
c.3547+1342T>G (n.3547+1342T>G)
c.3028T>G (p.Ser1010Ala)
c.2995T>G (p.Ser999Ala)
c.3208T>G (p.Ser1070Ala)
Xg.53234980A>GCA413141343IQSEC2c.3865T>C (p.Ser1289Pro)
c.1453+803T>C
c.962+803T>C
c.316+1342T>C (n.316+1342T>C)
c.514+1342T>C (n.514+1342T>C)
c.*191T>C (n.*191T>C)
c.3706T>C (p.Ser1236Pro)
c.3676T>C (p.Ser1226Pro)
c.3802T>C (p.Ser1268Pro)
c.3091T>C (p.Ser1031Pro)
c.3597+803T>C (n.3597+803T>C)
c.3547+1342T>C (n.3547+1342T>C)
c.3028T>C (p.Ser1010Pro)
c.2995T>C (p.Ser999Pro)
c.3208T>C (p.Ser1070Pro)
Xg.53234980A>TCA413141344IQSEC2c.3865T>A (p.Ser1289Thr)
c.1453+803T>A
c.962+803T>A
c.316+1342T>A (n.316+1342T>A)
c.514+1342T>A (n.514+1342T>A)
c.*191T>A (n.*191T>A)
c.3706T>A (p.Ser1236Thr)
c.3676T>A (p.Ser1226Thr)
c.3802T>A (p.Ser1268Thr)
c.3091T>A (p.Ser1031Thr)
c.3597+803T>A (n.3597+803T>A)
c.3547+1342T>A (n.3547+1342T>A)
c.3028T>A (p.Ser1010Thr)
c.2995T>A (p.Ser999Thr)
c.3208T>A (p.Ser1070Thr)
Xg.53234981A>CCA516673706IQSEC2c.3864T>G (p.Ala1288=)
c.1453+802T>G
c.962+802T>G
c.316+1341T>G (n.316+1341T>G)
c.514+1341T>G (n.514+1341T>G)
c.*190T>G (n.*190T>G)
c.3705T>G (p.Ala1235=)
c.3675T>G (p.Ala1225=)
c.3801T>G (p.Ala1267=)
c.3090T>G (p.Ala1030=)
c.3597+802T>G (n.3597+802T>G)
c.3547+1341T>G (n.3547+1341T>G)
c.3027T>G (p.Ala1009=)
c.2994T>G (p.Ala998=)
c.3207T>G (p.Ala1069=)
Xg.53234981A>GCA516673708IQSEC2c.3864T>C (p.Ala1288=)
c.1453+802T>C
c.962+802T>C
c.316+1341T>C (n.316+1341T>C)
c.514+1341T>C (n.514+1341T>C)
c.*190T>C (n.*190T>C)
c.3705T>C (p.Ala1235=)
c.3675T>C (p.Ala1225=)
c.3801T>C (p.Ala1267=)
c.3090T>C (p.Ala1030=)
c.3597+802T>C (n.3597+802T>C)
c.3547+1341T>C (n.3547+1341T>C)
c.3027T>C (p.Ala1009=)
c.2994T>C (p.Ala998=)
c.3207T>C (p.Ala1069=)
Xg.53234981A>TCA516673707IQSEC2c.3864T>A (p.Ala1288=)
c.1453+802T>A
c.962+802T>A
c.316+1341T>A (n.316+1341T>A)
c.514+1341T>A (n.514+1341T>A)
c.*190T>A (n.*190T>A)
c.3705T>A (p.Ala1235=)
c.3675T>A (p.Ala1225=)
c.3801T>A (p.Ala1267=)
c.3090T>A (p.Ala1030=)
c.3597+802T>A (n.3597+802T>A)
c.3547+1341T>A (n.3547+1341T>A)
c.3027T>A (p.Ala1009=)
c.2994T>A (p.Ala998=)
c.3207T>A (p.Ala1069=)
Xg.53234982G>ACA413141346IQSEC2c.3863C>T (p.Ala1288Val)
c.1453+801C>T
c.962+801C>T
c.316+1340C>T (n.316+1340C>T)
c.514+1340C>T (n.514+1340C>T)
c.*189C>T (n.*189C>T)
c.3704C>T (p.Ala1235Val)
c.3674C>T (p.Ala1225Val)
c.3800C>T (p.Ala1267Val)
c.3089C>T (p.Ala1030Val)
c.3597+801C>T (n.3597+801C>T)
c.3547+1340C>T (n.3547+1340C>T)
c.3026C>T (p.Ala1009Val)
c.2993C>T (p.Ala998Val)
c.3206C>T (p.Ala1069Val)
 gnomAD v4
Xg.53234982G>CCA413141349IQSEC2c.3863C>G (p.Ala1288Gly)
c.1453+801C>G
c.962+801C>G
c.316+1340C>G (n.316+1340C>G)
c.514+1340C>G (n.514+1340C>G)
c.*189C>G (n.*189C>G)
c.3704C>G (p.Ala1235Gly)
c.3674C>G (p.Ala1225Gly)
c.3800C>G (p.Ala1267Gly)
c.3089C>G (p.Ala1030Gly)
c.3597+801C>G (n.3597+801C>G)
c.3547+1340C>G (n.3547+1340C>G)
c.3026C>G (p.Ala1009Gly)
c.2993C>G (p.Ala998Gly)
c.3206C>G (p.Ala1069Gly)
Xg.53234982G>TCA413141350IQSEC2c.3863C>A (p.Ala1288Asp)
c.1453+801C>A
c.962+801C>A
c.316+1340C>A (n.316+1340C>A)
c.514+1340C>A (n.514+1340C>A)
c.*189C>A (n.*189C>A)
c.3704C>A (p.Ala1235Asp)
c.3674C>A (p.Ala1225Asp)
c.3800C>A (p.Ala1267Asp)
c.3089C>A (p.Ala1030Asp)
c.3597+801C>A (n.3597+801C>A)
c.3547+1340C>A (n.3547+1340C>A)
c.3026C>A (p.Ala1009Asp)
c.2993C>A (p.Ala998Asp)
c.3206C>A (p.Ala1069Asp)
Xg.53234983C>ACA413141353IQSEC2c.3862G>T (p.Ala1288Ser)
c.1453+800G>T
c.962+800G>T
c.316+1339G>T (n.316+1339G>T)
c.514+1339G>T (n.514+1339G>T)
c.*188G>T (n.*188G>T)
c.3703G>T (p.Ala1235Ser)
c.3673G>T (p.Ala1225Ser)
c.3799G>T (p.Ala1267Ser)
c.3088G>T (p.Ala1030Ser)
c.3597+800G>T (n.3597+800G>T)
c.3547+1339G>T (n.3547+1339G>T)
c.3025G>T (p.Ala1009Ser)
c.2992G>T (p.Ala998Ser)
c.3205G>T (p.Ala1069Ser)
Xg.53234983C=CA2429770660IQSEC2c.3862G= (p.Ala1288=)
c.1453+800G=
c.962+800G=
c.316+1339G= (n.316+1339G=)
c.514+1339G= (n.514+1339G=)
c.*188G= (n.*188G=)
c.3703G= (p.Ala1235=)
c.3673G= (p.Ala1225=)
c.3799G= (p.Ala1267=)
c.3088G= (p.Ala1030=)
c.3597+800G= (n.3597+800G=)
c.3547+1339G= (n.3547+1339G=)
c.3025G= (p.Ala1009=)
c.2992G= (p.Ala998=)
c.3205G= (p.Ala1069=)
Xg.53234983C>GCA413141356IQSEC2c.3862G>C (p.Ala1288Pro)
c.1453+800G>C
c.962+800G>C
c.316+1339G>C (n.316+1339G>C)
c.514+1339G>C (n.514+1339G>C)
c.*188G>C (n.*188G>C)
c.3703G>C (p.Ala1235Pro)
c.3673G>C (p.Ala1225Pro)
c.3799G>C (p.Ala1267Pro)
c.3088G>C (p.Ala1030Pro)
c.3597+800G>C (n.3597+800G>C)
c.3547+1339G>C (n.3547+1339G>C)
c.3025G>C (p.Ala1009Pro)
c.2992G>C (p.Ala998Pro)
c.3205G>C (p.Ala1069Pro)
Xg.53234983C>TCA10419779IQSEC2c.3862G>A (p.Ala1288Thr)
c.1453+800G>A
c.962+800G>A
c.316+1339G>A (n.316+1339G>A)
c.514+1339G>A (n.514+1339G>A)
c.*188G>A (n.*188G>A)
c.3703G>A (p.Ala1235Thr)
c.3673G>A (p.Ala1225Thr)
c.3799G>A (p.Ala1267Thr)
c.3088G>A (p.Ala1030Thr)
c.3597+800G>A (n.3597+800G>A)
c.3547+1339G>A (n.3547+1339G>A)
c.3025G>A (p.Ala1009Thr)
c.2992G>A (p.Ala998Thr)
c.3205G>A (p.Ala1069Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53234984A>CCA516673717IQSEC2c.3861T>G (p.Ser1287=)
c.1453+799T>G
c.962+799T>G
c.316+1338T>G (n.316+1338T>G)
c.514+1338T>G (n.514+1338T>G)
c.*187T>G (n.*187T>G)
c.3702T>G (p.Ser1234=)
c.3672T>G (p.Ser1224=)
c.3798T>G (p.Ser1266=)
c.3087T>G (p.Ser1029=)
c.3597+799T>G (n.3597+799T>G)
c.3547+1338T>G (n.3547+1338T>G)
c.3024T>G (p.Ser1008=)
c.2991T>G (p.Ser997=)
c.3204T>G (p.Ser1068=)
Xg.53234984A>GCA516673719IQSEC2c.3861T>C (p.Ser1287=)
c.1453+799T>C
c.962+799T>C
c.316+1338T>C (n.316+1338T>C)
c.514+1338T>C (n.514+1338T>C)
c.*187T>C (n.*187T>C)
c.3702T>C (p.Ser1234=)
c.3672T>C (p.Ser1224=)
c.3798T>C (p.Ser1266=)
c.3087T>C (p.Ser1029=)
c.3597+799T>C (n.3597+799T>C)
c.3547+1338T>C (n.3547+1338T>C)
c.3024T>C (p.Ser1008=)
c.2991T>C (p.Ser997=)
c.3204T>C (p.Ser1068=)
Xg.53234984A>TCA516673720IQSEC2c.3861T>A (p.Ser1287=)
c.1453+799T>A
c.962+799T>A
c.316+1338T>A (n.316+1338T>A)
c.514+1338T>A (n.514+1338T>A)
c.*187T>A (n.*187T>A)
c.3702T>A (p.Ser1234=)
c.3672T>A (p.Ser1224=)
c.3798T>A (p.Ser1266=)
c.3087T>A (p.Ser1029=)
c.3597+799T>A (n.3597+799T>A)
c.3547+1338T>A (n.3547+1338T>A)
c.3024T>A (p.Ser1008=)
c.2991T>A (p.Ser997=)
c.3204T>A (p.Ser1068=)
Xg.53234985G>ACA413141366IQSEC2c.3860C>T (p.Ser1287Phe)
c.1453+798C>T
c.962+798C>T
c.316+1337C>T (n.316+1337C>T)
c.514+1337C>T (n.514+1337C>T)
c.*186C>T (n.*186C>T)
c.3701C>T (p.Ser1234Phe)
c.3671C>T (p.Ser1224Phe)
c.3797C>T (p.Ser1266Phe)
c.3086C>T (p.Ser1029Phe)
c.3597+798C>T (n.3597+798C>T)
c.3547+1337C>T (n.3547+1337C>T)
c.3023C>T (p.Ser1008Phe)
c.2990C>T (p.Ser997Phe)
c.3203C>T (p.Ser1068Phe)
Xg.53234985G>CCA413141370IQSEC2c.3860C>G (p.Ser1287Cys)
c.1453+798C>G
c.962+798C>G
c.316+1337C>G (n.316+1337C>G)
c.514+1337C>G (n.514+1337C>G)
c.*186C>G (n.*186C>G)
c.3701C>G (p.Ser1234Cys)
c.3671C>G (p.Ser1224Cys)
c.3797C>G (p.Ser1266Cys)
c.3086C>G (p.Ser1029Cys)
c.3597+798C>G (n.3597+798C>G)
c.3547+1337C>G (n.3547+1337C>G)
c.3023C>G (p.Ser1008Cys)
c.2990C>G (p.Ser997Cys)
c.3203C>G (p.Ser1068Cys)
Xg.53234985G>TCA413141363IQSEC2c.3860C>A (p.Ser1287Tyr)
c.1453+798C>A
c.962+798C>A
c.316+1337C>A (n.316+1337C>A)
c.514+1337C>A (n.514+1337C>A)
c.*186C>A (n.*186C>A)
c.3701C>A (p.Ser1234Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3797C>A (p.Ser1266Tyr)
c.3086C>A (p.Ser1029Tyr)
c.3597+798C>A (n.3597+798C>A)
c.3547+1337C>A (n.3547+1337C>A)
c.3023C>A (p.Ser1008Tyr)
c.2990C>A (p.Ser997Tyr)
c.3203C>A (p.Ser1068Tyr)
Xg.53234986A>CCA413141375IQSEC2c.3859T>G (p.Ser1287Ala)
c.1453+797T>G
c.962+797T>G
c.316+1336T>G (n.316+1336T>G)
c.514+1336T>G (n.514+1336T>G)
c.*185T>G (n.*185T>G)
c.3700T>G (p.Ser1234Ala)
c.3670T>G (p.Ser1224Ala)
c.3796T>G (p.Ser1266Ala)
c.3085T>G (p.Ser1029Ala)
c.3597+797T>G (n.3597+797T>G)
c.3547+1336T>G (n.3547+1336T>G)
c.3022T>G (p.Ser1008Ala)
c.2989T>G (p.Ser997Ala)
c.3202T>G (p.Ser1068Ala)
Xg.53234986A>GCA413141372IQSEC2c.3859T>C (p.Ser1287Pro)
c.1453+797T>C
c.962+797T>C
c.316+1336T>C (n.316+1336T>C)
c.514+1336T>C (n.514+1336T>C)
c.*185T>C (n.*185T>C)
c.3700T>C (p.Ser1234Pro)
c.3670T>C (p.Ser1224Pro)
c.3796T>C (p.Ser1266Pro)
c.3085T>C (p.Ser1029Pro)
c.3597+797T>C (n.3597+797T>C)
c.3547+1336T>C (n.3547+1336T>C)
c.3022T>C (p.Ser1008Pro)
c.2989T>C (p.Ser997Pro)
c.3202T>C (p.Ser1068Pro)
Xg.53234986A>TCA413141377IQSEC2c.3859T>A (p.Ser1287Thr)
c.1453+797T>A
c.962+797T>A
c.316+1336T>A (n.316+1336T>A)
c.514+1336T>A (n.514+1336T>A)
c.*185T>A (n.*185T>A)
c.3700T>A (p.Ser1234Thr)
c.3670T>A (p.Ser1224Thr)
c.3796T>A (p.Ser1266Thr)
c.3085T>A (p.Ser1029Thr)
c.3597+797T>A (n.3597+797T>A)
c.3547+1336T>A (n.3547+1336T>A)
c.3022T>A (p.Ser1008Thr)
c.2989T>A (p.Ser997Thr)
c.3202T>A (p.Ser1068Thr)
Xg.53234987T>ACA516673726IQSEC2c.3858A>T (p.Ser1286=)
c.1453+796A>T
c.962+796A>T
c.316+1335A>T (n.316+1335A>T)
c.514+1335A>T (n.514+1335A>T)
c.*184A>T (n.*184A>T)
c.3699A>T (p.Ser1233=)
c.3669A>T (p.Ser1223=)
c.3795A>T (p.Ser1265=)
c.3084A>T (p.Ser1028=)
c.3597+796A>T (n.3597+796A>T)
c.3547+1335A>T (n.3547+1335A>T)
c.3021A>T (p.Ser1007=)
c.2988A>T (p.Ser996=)
c.3201A>T (p.Ser1067=)
 gnomAD v4
Xg.53234987T>CCA516673727IQSEC2c.3858A>G (p.Ser1286=)
c.1453+796A>G
c.962+796A>G
c.316+1335A>G (n.316+1335A>G)
c.514+1335A>G (n.514+1335A>G)
c.*184A>G (n.*184A>G)
c.3699A>G (p.Ser1233=)
c.3669A>G (p.Ser1223=)
c.3795A>G (p.Ser1265=)
c.3084A>G (p.Ser1028=)
c.3597+796A>G (n.3597+796A>G)
c.3547+1335A>G (n.3547+1335A>G)
c.3021A>G (p.Ser1007=)
c.2988A>G (p.Ser996=)
c.3201A>G (p.Ser1067=)
Xg.53234987T>GCA516673729IQSEC2c.3858A>C (p.Ser1286=)
c.1453+796A>C
c.962+796A>C
c.316+1335A>C (n.316+1335A>C)
c.514+1335A>C (n.514+1335A>C)
c.*184A>C (n.*184A>C)
c.3699A>C (p.Ser1233=)
c.3669A>C (p.Ser1223=)
c.3795A>C (p.Ser1265=)
c.3084A>C (p.Ser1028=)
c.3597+796A>C (n.3597+796A>C)
c.3547+1335A>C (n.3547+1335A>C)
c.3021A>C (p.Ser1007=)
c.2988A>C (p.Ser996=)
c.3201A>C (p.Ser1067=)
Xg.53234987_53234993delinsTGAAGAGCA2429770661IQSEC2c.3852_3858delinsCTCTTCA (p.Ser1284=)
c.1453+790_1453+796delinsCTCTTCA
c.962+790_962+796delinsCTCTTCA
c.316+1329_316+1335delinsCTCTTCA (n.316+1329_316+1335delinsCTCTTCA)
c.514+1329_514+1335delinsCTCTTCA (n.514+1329_514+1335delinsCTCTTCA)
c.*178_*184delinsCTCTTCA (n.*178_*184delinsCTCTTCA)
c.3693_3699delinsCTCTTCA (p.Ser1231=)
c.3663_3669delinsCTCTTCA (p.Ser1221=)
c.3789_3795delinsCTCTTCA (p.Ser1263=)
c.3078_3084delinsCTCTTCA (p.Ser1026=)
c.3597+790_3597+796delinsCTCTTCA (n.3597+790_3597+796delinsCTCTTCA)
c.3547+1329_3547+1335delinsCTCTTCA (n.3547+1329_3547+1335delinsCTCTTCA)
c.3015_3021delinsCTCTTCA (p.Ser1005=)
c.2982_2988delinsCTCTTCA (p.Ser994=)
c.3195_3201delinsCTCTTCA (p.Ser1065=)
Xg.53234988G>ACA413141381IQSEC2c.3857C>T (p.Ser1286Leu)
c.1453+795C>T
c.962+795C>T
c.316+1334C>T (n.316+1334C>T)
c.514+1334C>T (n.514+1334C>T)
c.*183C>T (n.*183C>T)
c.3698C>T (p.Ser1233Leu)
c.3668C>T (p.Ser1223Leu)
c.3794C>T (p.Ser1265Leu)
c.3083C>T (p.Ser1028Leu)
c.3597+795C>T (n.3597+795C>T)
c.3547+1334C>T (n.3547+1334C>T)
c.3020C>T (p.Ser1007Leu)
c.2987C>T (p.Ser996Leu)
c.3200C>T (p.Ser1067Leu)
Xg.53234988G>CCA413141387IQSEC2c.3857C>G (p.Ser1286Ter)
c.1453+795C>G
c.962+795C>G
c.316+1334C>G (n.316+1334C>G)
c.514+1334C>G (n.514+1334C>G)
c.*183C>G (n.*183C>G)
c.3698C>G (p.Ser1233Ter)
c.3668C>G (p.Ser1223Ter)
c.3794C>G (p.Ser1265Ter)
c.3083C>G (p.Ser1028Ter)
c.3597+795C>G (n.3597+795C>G)
c.3547+1334C>G (n.3547+1334C>G)
c.3020C>G (p.Ser1007Ter)
c.2987C>G (p.Ser996Ter)
c.3200C>G (p.Ser1067Ter)
Xg.53234988G>TCA413141384IQSEC2c.3857C>A (p.Ser1286Ter)
c.1453+795C>A
c.962+795C>A
c.316+1334C>A (n.316+1334C>A)
c.514+1334C>A (n.514+1334C>A)
c.*183C>A (n.*183C>A)
c.3698C>A (p.Ser1233Ter)
c.3668C>A (p.Ser1223Ter)
c.3794C>A (p.Ser1265Ter)
c.3083C>A (p.Ser1028Ter)
c.3597+795C>A (n.3597+795C>A)
c.3547+1334C>A (n.3547+1334C>A)
c.3020C>A (p.Ser1007Ter)
c.2987C>A (p.Ser996Ter)
c.3200C>A (p.Ser1067Ter)
Xg.53234990_53234995delCA10419780IQSEC2c.3852_3857del (p.Ser1285_Ser1286del)
c.1453+790_1453+795del
c.962+790_962+795del
c.316+1329_316+1334del (n.316+1329_316+1334del)
c.514+1329_514+1334del (n.514+1329_514+1334del)
c.*178_*183del (n.*178_*183del)
c.3693_3698del (p.Ser1232_Ser1233del)
c.3663_3668del (p.Ser1222_Ser1223del)
c.3789_3794del (p.Ser1264_Ser1265del)
c.3078_3083del (p.Ser1027_Ser1028del)
c.3597+790_3597+795del (n.3597+790_3597+795del)
c.3547+1329_3547+1334del (n.3547+1329_3547+1334del)
c.3015_3020del (p.Ser1006_Ser1007del)
c.2982_2987del (p.Ser995_Ser996del)
c.3195_3200del (p.Ser1066_Ser1067del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234989A>CCA413141390IQSEC2c.3856T>G (p.Ser1286Ala)
c.1453+794T>G
c.962+794T>G
c.316+1333T>G (n.316+1333T>G)
c.514+1333T>G (n.514+1333T>G)
c.*182T>G (n.*182T>G)
c.3697T>G (p.Ser1233Ala)
c.3667T>G (p.Ser1223Ala)
c.3793T>G (p.Ser1265Ala)
c.3082T>G (p.Ser1028Ala)
c.3597+794T>G (n.3597+794T>G)
c.3547+1333T>G (n.3547+1333T>G)
c.3019T>G (p.Ser1007Ala)
c.2986T>G (p.Ser996Ala)
c.3199T>G (p.Ser1067Ala)
Xg.53234989A>GCA413141396IQSEC2c.3856T>C (p.Ser1286Pro)
c.1453+794T>C
c.962+794T>C
c.316+1333T>C (n.316+1333T>C)
c.514+1333T>C (n.514+1333T>C)
c.*182T>C (n.*182T>C)
c.3697T>C (p.Ser1233Pro)
c.3667T>C (p.Ser1223Pro)
c.3793T>C (p.Ser1265Pro)
c.3082T>C (p.Ser1028Pro)
c.3597+794T>C (n.3597+794T>C)
c.3547+1333T>C (n.3547+1333T>C)
c.3019T>C (p.Ser1007Pro)
c.2986T>C (p.Ser996Pro)
c.3199T>C (p.Ser1067Pro)
Xg.53234989A>TCA413141393IQSEC2c.3856T>A (p.Ser1286Thr)
c.1453+794T>A
c.962+794T>A
c.316+1333T>A (n.316+1333T>A)
c.514+1333T>A (n.514+1333T>A)
c.*182T>A (n.*182T>A)
c.3697T>A (p.Ser1233Thr)
c.3667T>A (p.Ser1223Thr)
c.3793T>A (p.Ser1265Thr)
c.3082T>A (p.Ser1028Thr)
c.3597+794T>A (n.3597+794T>A)
c.3547+1333T>A (n.3547+1333T>A)
c.3019T>A (p.Ser1007Thr)
c.2986T>A (p.Ser996Thr)
c.3199T>A (p.Ser1067Thr)
Xg.53234990A=CA2429770662IQSEC2c.3855T= (p.Ser1285=)
c.1453+793T=
c.962+793T=
c.316+1332T= (n.316+1332T=)
c.514+1332T= (n.514+1332T=)
c.*181T= (n.*181T=)
c.3696T= (p.Ser1232=)
c.3666T= (p.Ser1222=)
c.3792T= (p.Ser1264=)
c.3081T= (p.Ser1027=)
c.3597+793T= (n.3597+793T=)
c.3547+1332T= (n.3547+1332T=)
c.3018T= (p.Ser1006=)
c.2985T= (p.Ser995=)
c.3198T= (p.Ser1066=)
Xg.53234990A>CCA516673736IQSEC2c.3855T>G (p.Ser1285=)
c.1453+793T>G
c.962+793T>G
c.316+1332T>G (n.316+1332T>G)
c.514+1332T>G (n.514+1332T>G)
c.*181T>G (n.*181T>G)
c.3696T>G (p.Ser1232=)
c.3666T>G (p.Ser1222=)
c.3792T>G (p.Ser1264=)
c.3081T>G (p.Ser1027=)
c.3597+793T>G (n.3597+793T>G)
c.3547+1332T>G (n.3547+1332T>G)
c.3018T>G (p.Ser1006=)
c.2985T>G (p.Ser995=)
c.3198T>G (p.Ser1066=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234990A>GCA516673737IQSEC2c.3855T>C (p.Ser1285=)
c.1453+793T>C
c.962+793T>C
c.316+1332T>C (n.316+1332T>C)
c.514+1332T>C (n.514+1332T>C)
c.*181T>C (n.*181T>C)
c.3696T>C (p.Ser1232=)
c.3666T>C (p.Ser1222=)
c.3792T>C (p.Ser1264=)
c.3081T>C (p.Ser1027=)
c.3597+793T>C (n.3597+793T>C)
c.3547+1332T>C (n.3547+1332T>C)
c.3018T>C (p.Ser1006=)
c.2985T>C (p.Ser995=)
c.3198T>C (p.Ser1066=)
Xg.53234990A>TCA516673738IQSEC2c.3855T>A (p.Ser1285=)
c.1453+793T>A
c.962+793T>A
c.316+1332T>A (n.316+1332T>A)
c.514+1332T>A (n.514+1332T>A)
c.*181T>A (n.*181T>A)
c.3696T>A (p.Ser1232=)
c.3666T>A (p.Ser1222=)
c.3792T>A (p.Ser1264=)
c.3081T>A (p.Ser1027=)
c.3597+793T>A (n.3597+793T>A)
c.3547+1332T>A (n.3547+1332T>A)
c.3018T>A (p.Ser1006=)
c.2985T>A (p.Ser995=)
c.3198T>A (p.Ser1066=)
Xg.53234991G>ACA413141398IQSEC2c.3854C>T (p.Ser1285Phe)
c.1453+792C>T
c.962+792C>T
c.316+1331C>T (n.316+1331C>T)
c.514+1331C>T (n.514+1331C>T)
c.*180C>T (n.*180C>T)
c.3695C>T (p.Ser1232Phe)
c.3665C>T (p.Ser1222Phe)
c.3791C>T (p.Ser1264Phe)
c.3080C>T (p.Ser1027Phe)
c.3597+792C>T (n.3597+792C>T)
c.3547+1331C>T (n.3547+1331C>T)
c.3017C>T (p.Ser1006Phe)
c.2984C>T (p.Ser995Phe)
c.3197C>T (p.Ser1066Phe)
Xg.53234991G>CCA413141400IQSEC2c.3854C>G (p.Ser1285Cys)
c.1453+792C>G
c.962+792C>G
c.316+1331C>G (n.316+1331C>G)
c.514+1331C>G (n.514+1331C>G)
c.*180C>G (n.*180C>G)
c.3695C>G (p.Ser1232Cys)
c.3665C>G (p.Ser1222Cys)
c.3791C>G (p.Ser1264Cys)
c.3080C>G (p.Ser1027Cys)
c.3597+792C>G (n.3597+792C>G)
c.3547+1331C>G (n.3547+1331C>G)
c.3017C>G (p.Ser1006Cys)
c.2984C>G (p.Ser995Cys)
c.3197C>G (p.Ser1066Cys)
Xg.53234991G>TCA413141403IQSEC2c.3854C>A (p.Ser1285Tyr)
c.1453+792C>A
c.962+792C>A
c.316+1331C>A (n.316+1331C>A)
c.514+1331C>A (n.514+1331C>A)
c.*180C>A (n.*180C>A)
c.3695C>A (p.Ser1232Tyr)
c.3665C>A (p.Ser1222Tyr)
c.3791C>A (p.Ser1264Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3597+792C>A (n.3597+792C>A)
c.3547+1331C>A (n.3547+1331C>A)
c.3017C>A (p.Ser1006Tyr)
c.2984C>A (p.Ser995Tyr)
c.3197C>A (p.Ser1066Tyr)
Xg.53234995_53234997delCA2693794293IQSEC2c.3852_3854del (p.Ser1285del)
c.1453+790_1453+792del
c.962+790_962+792del
c.316+1329_316+1331del (n.316+1329_316+1331del)
c.514+1329_514+1331del (n.514+1329_514+1331del)
c.*178_*180del (n.*178_*180del)
c.3693_3695del (p.Ser1232del)
c.3663_3665del (p.Ser1222del)
c.3789_3791del (p.Ser1264del)
c.3078_3080del (p.Ser1027del)
c.3597+790_3597+792del (n.3597+790_3597+792del)
c.3547+1329_3547+1331del (n.3547+1329_3547+1331del)
c.3015_3017del (p.Ser1006del)
c.2982_2984del (p.Ser995del)
c.3195_3197del (p.Ser1066del)
 gnomAD v4
Xg.53234992A>CCA413141414IQSEC2c.3853T>G (p.Ser1285Ala)
c.1453+791T>G
c.962+791T>G
c.316+1330T>G (n.316+1330T>G)
c.514+1330T>G (n.514+1330T>G)
c.*179T>G (n.*179T>G)
c.3694T>G (p.Ser1232Ala)
c.3664T>G (p.Ser1222Ala)
c.3790T>G (p.Ser1264Ala)
c.3079T>G (p.Ser1027Ala)
c.3597+791T>G (n.3597+791T>G)
c.3547+1330T>G (n.3547+1330T>G)
c.3016T>G (p.Ser1006Ala)
c.2983T>G (p.Ser995Ala)
c.3196T>G (p.Ser1066Ala)
Xg.53234992A>GCA413141416IQSEC2c.3853T>C (p.Ser1285Pro)
c.1453+791T>C
c.962+791T>C
c.316+1330T>C (n.316+1330T>C)
c.514+1330T>C (n.514+1330T>C)
c.*179T>C (n.*179T>C)
c.3694T>C (p.Ser1232Pro)
c.3664T>C (p.Ser1222Pro)
c.3790T>C (p.Ser1264Pro)
c.3079T>C (p.Ser1027Pro)
c.3597+791T>C (n.3597+791T>C)
c.3547+1330T>C (n.3547+1330T>C)
c.3016T>C (p.Ser1006Pro)
c.2983T>C (p.Ser995Pro)
c.3196T>C (p.Ser1066Pro)
Xg.53234992A>TCA413141421IQSEC2c.3853T>A (p.Ser1285Thr)
c.1453+791T>A
c.962+791T>A
c.316+1330T>A (n.316+1330T>A)
c.514+1330T>A (n.514+1330T>A)
c.*179T>A (n.*179T>A)
c.3694T>A (p.Ser1232Thr)
c.3664T>A (p.Ser1222Thr)
c.3790T>A (p.Ser1264Thr)
c.3079T>A (p.Ser1027Thr)
c.3597+791T>A (n.3597+791T>A)
c.3547+1330T>A (n.3547+1330T>A)
c.3016T>A (p.Ser1006Thr)
c.2983T>A (p.Ser995Thr)
c.3196T>A (p.Ser1066Thr)
Xg.53234993G>ACA329162188IQSEC2c.3852C>T (p.Ser1284=)
c.1453+790C>T
c.962+790C>T
c.316+1329C>T (n.316+1329C>T)
c.514+1329C>T (n.514+1329C>T)
c.*178C>T (n.*178C>T)
c.3693C>T (p.Ser1231=)
c.3663C>T (p.Ser1221=)
c.3789C>T (p.Ser1263=)
c.3078C>T (p.Ser1026=)
c.3597+790C>T (n.3597+790C>T)
c.3547+1329C>T (n.3547+1329C>T)
c.3015C>T (p.Ser1005=)
c.2982C>T (p.Ser994=)
c.3195C>T (p.Ser1065=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53234993G>CCA516673739IQSEC2c.3852C>G (p.Ser1284=)
c.1453+790C>G
c.962+790C>G
c.316+1329C>G (n.316+1329C>G)
c.514+1329C>G (n.514+1329C>G)
c.*178C>G (n.*178C>G)
c.3693C>G (p.Ser1231=)
c.3663C>G (p.Ser1221=)
c.3789C>G (p.Ser1263=)
c.3078C>G (p.Ser1026=)
c.3597+790C>G (n.3597+790C>G)
c.3547+1329C>G (n.3547+1329C>G)
c.3015C>G (p.Ser1005=)
c.2982C>G (p.Ser994=)
c.3195C>G (p.Ser1065=)
Xg.53234993G=CA2429770663IQSEC2c.3852C= (p.Ser1284=)
c.1453+790C=
c.962+790C=
c.316+1329C= (n.316+1329C=)
c.514+1329C= (n.514+1329C=)
c.*178C= (n.*178C=)
c.3693C= (p.Ser1231=)
c.3663C= (p.Ser1221=)
c.3789C= (p.Ser1263=)
c.3078C= (p.Ser1026=)
c.3597+790C= (n.3597+790C=)
c.3547+1329C= (n.3547+1329C=)
c.3015C= (p.Ser1005=)
c.2982C= (p.Ser994=)
c.3195C= (p.Ser1065=)
Xg.53234993G>TCA516673740IQSEC2c.3852C>A (p.Ser1284=)
c.1453+790C>A
c.962+790C>A
c.316+1329C>A (n.316+1329C>A)
c.514+1329C>A (n.514+1329C>A)
c.*178C>A (n.*178C>A)
c.3693C>A (p.Ser1231=)
c.3663C>A (p.Ser1221=)
c.3789C>A (p.Ser1263=)
c.3078C>A (p.Ser1026=)
c.3597+790C>A (n.3597+790C>A)
c.3547+1329C>A (n.3547+1329C>A)
c.3015C>A (p.Ser1005=)
c.2982C>A (p.Ser994=)
c.3195C>A (p.Ser1065=)
Xg.53234994G>ACA413141428IQSEC2c.3851C>T (p.Ser1284Phe)
c.1453+789C>T
c.962+789C>T
c.316+1328C>T (n.316+1328C>T)
c.514+1328C>T (n.514+1328C>T)
c.*177C>T (n.*177C>T)
c.3692C>T (p.Ser1231Phe)
c.3662C>T (p.Ser1221Phe)
c.3788C>T (p.Ser1263Phe)
c.3077C>T (p.Ser1026Phe)
c.3597+789C>T (n.3597+789C>T)
c.3547+1328C>T (n.3547+1328C>T)
c.3014C>T (p.Ser1005Phe)
c.2981C>T (p.Ser994Phe)
c.3194C>T (p.Ser1065Phe)
Xg.53234994G>CCA413141431IQSEC2c.3851C>G (p.Ser1284Cys)
c.1453+789C>G
c.962+789C>G
c.316+1328C>G (n.316+1328C>G)
c.514+1328C>G (n.514+1328C>G)
c.*177C>G (n.*177C>G)
c.3692C>G (p.Ser1231Cys)
c.3662C>G (p.Ser1221Cys)
c.3788C>G (p.Ser1263Cys)
c.3077C>G (p.Ser1026Cys)
c.3597+789C>G (n.3597+789C>G)
c.3547+1328C>G (n.3547+1328C>G)
c.3014C>G (p.Ser1005Cys)
c.2981C>G (p.Ser994Cys)
c.3194C>G (p.Ser1065Cys)
Xg.53234994G>TCA413141432IQSEC2c.3851C>A (p.Ser1284Tyr)
c.1453+789C>A
c.962+789C>A
c.316+1328C>A (n.316+1328C>A)
c.514+1328C>A (n.514+1328C>A)
c.*177C>A (n.*177C>A)
c.3692C>A (p.Ser1231Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3788C>A (p.Ser1263Tyr)
c.3077C>A (p.Ser1026Tyr)
c.3597+789C>A (n.3597+789C>A)
c.3547+1328C>A (n.3547+1328C>A)
c.3014C>A (p.Ser1005Tyr)
c.2981C>A (p.Ser994Tyr)
c.3194C>A (p.Ser1065Tyr)
Xg.53234995A>CCA413141442IQSEC2c.3850T>G (p.Ser1284Ala)
c.1453+788T>G
c.962+788T>G
c.316+1327T>G (n.316+1327T>G)
c.514+1327T>G (n.514+1327T>G)
c.*176T>G (n.*176T>G)
c.3691T>G (p.Ser1231Ala)
c.3661T>G (p.Ser1221Ala)
c.3787T>G (p.Ser1263Ala)
c.3076T>G (p.Ser1026Ala)
c.3597+788T>G (n.3597+788T>G)
c.3547+1327T>G (n.3547+1327T>G)
c.3013T>G (p.Ser1005Ala)
c.2980T>G (p.Ser994Ala)
c.3193T>G (p.Ser1065Ala)
Xg.53234995A>GCA413141440IQSEC2c.3850T>C (p.Ser1284Pro)
c.1453+788T>C
c.962+788T>C
c.316+1327T>C (n.316+1327T>C)
c.514+1327T>C (n.514+1327T>C)
c.*176T>C (n.*176T>C)
c.3691T>C (p.Ser1231Pro)
c.3661T>C (p.Ser1221Pro)
c.3787T>C (p.Ser1263Pro)
c.3076T>C (p.Ser1026Pro)
c.3597+788T>C (n.3597+788T>C)
c.3547+1327T>C (n.3547+1327T>C)
c.3013T>C (p.Ser1005Pro)
c.2980T>C (p.Ser994Pro)
c.3193T>C (p.Ser1065Pro)
Xg.53234995A>TCA413141437IQSEC2c.3850T>A (p.Ser1284Thr)
c.1453+788T>A
c.962+788T>A
c.316+1327T>A (n.316+1327T>A)
c.514+1327T>A (n.514+1327T>A)
c.*176T>A (n.*176T>A)
c.3691T>A (p.Ser1231Thr)
c.3661T>A (p.Ser1221Thr)
c.3787T>A (p.Ser1263Thr)
c.3076T>A (p.Ser1026Thr)
c.3597+788T>A (n.3597+788T>A)
c.3547+1327T>A (n.3547+1327T>A)
c.3013T>A (p.Ser1005Thr)
c.2980T>A (p.Ser994Thr)
c.3193T>A (p.Ser1065Thr)
Xg.53234996G>ACA516673742IQSEC2c.3849C>T (p.Ala1283=)
c.1453+787C>T
c.962+787C>T
c.316+1326C>T (n.316+1326C>T)
c.514+1326C>T (n.514+1326C>T)
c.*175C>T (n.*175C>T)
c.3690C>T (p.Ala1230=)
c.3660C>T (p.Ala1220=)
c.3786C>T (p.Ala1262=)
c.3075C>T (p.Ala1025=)
c.3597+787C>T (n.3597+787C>T)
c.3547+1326C>T (n.3547+1326C>T)
c.3012C>T (p.Ala1004=)
c.2979C>T (p.Ala993=)
c.3192C>T (p.Ala1064=)
Xg.53234996G>CCA516673744IQSEC2c.3849C>G (p.Ala1283=)
c.1453+787C>G
c.962+787C>G
c.316+1326C>G (n.316+1326C>G)
c.514+1326C>G (n.514+1326C>G)
c.*175C>G (n.*175C>G)
c.3690C>G (p.Ala1230=)
c.3660C>G (p.Ala1220=)
c.3786C>G (p.Ala1262=)
c.3075C>G (p.Ala1025=)
c.3597+787C>G (n.3597+787C>G)
c.3547+1326C>G (n.3547+1326C>G)
c.3012C>G (p.Ala1004=)
c.2979C>G (p.Ala993=)
c.3192C>G (p.Ala1064=)
Xg.53234996G>TCA516673743IQSEC2c.3849C>A (p.Ala1283=)
c.1453+787C>A
c.962+787C>A
c.316+1326C>A (n.316+1326C>A)
c.514+1326C>A (n.514+1326C>A)
c.*175C>A (n.*175C>A)
c.3690C>A (p.Ala1230=)
c.3660C>A (p.Ala1220=)
c.3786C>A (p.Ala1262=)
c.3075C>A (p.Ala1025=)
c.3597+787C>A (n.3597+787C>A)
c.3547+1326C>A (n.3547+1326C>A)
c.3012C>A (p.Ala1004=)
c.2979C>A (p.Ala993=)
c.3192C>A (p.Ala1064=)
Xg.53234997G>ACA413141446IQSEC2c.3848C>T (p.Ala1283Val)
c.1453+786C>T
c.962+786C>T
c.316+1325C>T (n.316+1325C>T)
c.514+1325C>T (n.514+1325C>T)
c.*174C>T (n.*174C>T)
c.3689C>T (p.Ala1230Val)
c.3659C>T (p.Ala1220Val)
c.3785C>T (p.Ala1262Val)
c.3074C>T (p.Ala1025Val)
c.3597+786C>T (n.3597+786C>T)
c.3547+1325C>T (n.3547+1325C>T)
c.3011C>T (p.Ala1004Val)
c.2978C>T (p.Ala993Val)
c.3191C>T (p.Ala1064Val)
 gnomAD v4
Xg.53234997G>CCA413141447IQSEC2c.3848C>G (p.Ala1283Gly)
c.1453+786C>G
c.962+786C>G
c.316+1325C>G (n.316+1325C>G)
c.514+1325C>G (n.514+1325C>G)
c.*174C>G (n.*174C>G)
c.3689C>G (p.Ala1230Gly)
c.3659C>G (p.Ala1220Gly)
c.3785C>G (p.Ala1262Gly)
c.3074C>G (p.Ala1025Gly)
c.3597+786C>G (n.3597+786C>G)
c.3547+1325C>G (n.3547+1325C>G)
c.3011C>G (p.Ala1004Gly)
c.2978C>G (p.Ala993Gly)
c.3191C>G (p.Ala1064Gly)
Xg.53234997G>TCA413141450IQSEC2c.3848C>A (p.Ala1283Asp)
c.1453+786C>A
c.962+786C>A
c.316+1325C>A (n.316+1325C>A)
c.514+1325C>A (n.514+1325C>A)
c.*174C>A (n.*174C>A)
c.3689C>A (p.Ala1230Asp)
c.3659C>A (p.Ala1220Asp)
c.3785C>A (p.Ala1262Asp)
c.3074C>A (p.Ala1025Asp)
c.3597+786C>A (n.3597+786C>A)
c.3547+1325C>A (n.3547+1325C>A)
c.3011C>A (p.Ala1004Asp)
c.2978C>A (p.Ala993Asp)
c.3191C>A (p.Ala1064Asp)
Xg.53234998C>ACA413141453IQSEC2c.3847G>T (p.Ala1283Ser)
c.1453+785G>T
c.962+785G>T
c.316+1324G>T (n.316+1324G>T)
c.514+1324G>T (n.514+1324G>T)
c.*173G>T (n.*173G>T)
c.3688G>T (p.Ala1230Ser)
c.3658G>T (p.Ala1220Ser)
c.3784G>T (p.Ala1262Ser)
c.3073G>T (p.Ala1025Ser)
c.3597+785G>T (n.3597+785G>T)
c.3547+1324G>T (n.3547+1324G>T)
c.3010G>T (p.Ala1004Ser)
c.2977G>T (p.Ala993Ser)
c.3190G>T (p.Ala1064Ser)
 dbSNP gnomAD v4
Xg.53234998C=CA2429770664IQSEC2c.3847G= (p.Ala1283=)
c.1453+785G=
c.962+785G=
c.316+1324G= (n.316+1324G=)
c.514+1324G= (n.514+1324G=)
c.*173G= (n.*173G=)
c.3688G= (p.Ala1230=)
c.3658G= (p.Ala1220=)
c.3784G= (p.Ala1262=)
c.3073G= (p.Ala1025=)
c.3597+785G= (n.3597+785G=)
c.3547+1324G= (n.3547+1324G=)
c.3010G= (p.Ala1004=)
c.2977G= (p.Ala993=)
c.3190G= (p.Ala1064=)
Xg.53234998C>GCA413141456IQSEC2c.3847G>C (p.Ala1283Pro)
c.1453+785G>C
c.962+785G>C
c.316+1324G>C (n.316+1324G>C)
c.514+1324G>C (n.514+1324G>C)
c.*173G>C (n.*173G>C)
c.3688G>C (p.Ala1230Pro)
c.3658G>C (p.Ala1220Pro)
c.3784G>C (p.Ala1262Pro)
c.3073G>C (p.Ala1025Pro)
c.3597+785G>C (n.3597+785G>C)
c.3547+1324G>C (n.3547+1324G>C)
c.3010G>C (p.Ala1004Pro)
c.2977G>C (p.Ala993Pro)
c.3190G>C (p.Ala1064Pro)
Xg.53234998C>TCA413141458IQSEC2c.3847G>A (p.Ala1283Thr)
c.1453+785G>A
c.962+785G>A
c.316+1324G>A (n.316+1324G>A)
c.514+1324G>A (n.514+1324G>A)
c.*173G>A (n.*173G>A)
c.3688G>A (p.Ala1230Thr)
c.3658G>A (p.Ala1220Thr)
c.3784G>A (p.Ala1262Thr)
c.3073G>A (p.Ala1025Thr)
c.3597+785G>A (n.3597+785G>A)
c.3547+1324G>A (n.3547+1324G>A)
c.3010G>A (p.Ala1004Thr)
c.2977G>A (p.Ala993Thr)
c.3190G>A (p.Ala1064Thr)
Xg.53234999A=CA2429770665IQSEC2c.3846T= (p.Ser1282=)
c.1453+784T=
c.962+784T=
c.316+1323T= (n.316+1323T=)
c.514+1323T= (n.514+1323T=)
c.*172T= (n.*172T=)
c.3687T= (p.Ser1229=)
c.3657T= (p.Ser1219=)
c.3783T= (p.Ser1261=)
c.3072T= (p.Ser1024=)
c.3597+784T= (n.3597+784T=)
c.3547+1323T= (n.3547+1323T=)
c.3009T= (p.Ser1003=)
c.2976T= (p.Ser992=)
c.3189T= (p.Ser1063=)
Xg.53234999A>CCA516673748IQSEC2c.3846T>G (p.Ser1282=)
c.1453+784T>G
c.962+784T>G
c.316+1323T>G (n.316+1323T>G)
c.514+1323T>G (n.514+1323T>G)
c.*172T>G (n.*172T>G)
c.3687T>G (p.Ser1229=)
c.3657T>G (p.Ser1219=)
c.3783T>G (p.Ser1261=)
c.3072T>G (p.Ser1024=)
c.3597+784T>G (n.3597+784T>G)
c.3547+1323T>G (n.3547+1323T>G)
c.3009T>G (p.Ser1003=)
c.2976T>G (p.Ser992=)
c.3189T>G (p.Ser1063=)
Xg.53234999A>GCA516673749IQSEC2c.3846T>C (p.Ser1282=)
c.1453+784T>C
c.962+784T>C
c.316+1323T>C (n.316+1323T>C)
c.514+1323T>C (n.514+1323T>C)
c.*172T>C (n.*172T>C)
c.3687T>C (p.Ser1229=)
c.3657T>C (p.Ser1219=)
c.3783T>C (p.Ser1261=)
c.3072T>C (p.Ser1024=)
c.3597+784T>C (n.3597+784T>C)
c.3547+1323T>C (n.3547+1323T>C)
c.3009T>C (p.Ser1003=)
c.2976T>C (p.Ser992=)
c.3189T>C (p.Ser1063=)
 dbSNP gnomAD v4
Xg.53234999A>TCA516673750IQSEC2c.3846T>A (p.Ser1282=)
c.1453+784T>A
c.962+784T>A
c.316+1323T>A (n.316+1323T>A)
c.514+1323T>A (n.514+1323T>A)
c.*172T>A (n.*172T>A)
c.3687T>A (p.Ser1229=)
c.3657T>A (p.Ser1219=)
c.3783T>A (p.Ser1261=)
c.3072T>A (p.Ser1024=)
c.3597+784T>A (n.3597+784T>A)
c.3547+1323T>A (n.3547+1323T>A)
c.3009T>A (p.Ser1003=)
c.2976T>A (p.Ser992=)
c.3189T>A (p.Ser1063=)
 ClinVar dbSNP
Xg.53235000G>ACA413141461IQSEC2c.3845C>T (p.Ser1282Phe)
c.1453+783C>T
c.962+783C>T
c.316+1322C>T (n.316+1322C>T)
c.514+1322C>T (n.514+1322C>T)
c.*171C>T (n.*171C>T)
c.3686C>T (p.Ser1229Phe)
c.3656C>T (p.Ser1219Phe)
c.3782C>T (p.Ser1261Phe)
c.3071C>T (p.Ser1024Phe)
c.3597+783C>T (n.3597+783C>T)
c.3547+1322C>T (n.3547+1322C>T)
c.3008C>T (p.Ser1003Phe)
c.2975C>T (p.Ser992Phe)
c.3188C>T (p.Ser1063Phe)
Xg.53235000G>CCA413141463IQSEC2c.3845C>G (p.Ser1282Cys)
c.1453+783C>G
c.962+783C>G
c.316+1322C>G (n.316+1322C>G)
c.514+1322C>G (n.514+1322C>G)
c.*171C>G (n.*171C>G)
c.3686C>G (p.Ser1229Cys)
c.3656C>G (p.Ser1219Cys)
c.3782C>G (p.Ser1261Cys)
c.3071C>G (p.Ser1024Cys)
c.3597+783C>G (n.3597+783C>G)
c.3547+1322C>G (n.3547+1322C>G)
c.3008C>G (p.Ser1003Cys)
c.2975C>G (p.Ser992Cys)
c.3188C>G (p.Ser1063Cys)
 dbSNP
Xg.53235000G=CA2429770666IQSEC2c.3845C= (p.Ser1282=)
c.1453+783C=
c.962+783C=
c.316+1322C= (n.316+1322C=)
c.514+1322C= (n.514+1322C=)
c.*171C= (n.*171C=)
c.3686C= (p.Ser1229=)
c.3656C= (p.Ser1219=)
c.3782C= (p.Ser1261=)
c.3071C= (p.Ser1024=)
c.3597+783C= (n.3597+783C=)
c.3547+1322C= (n.3547+1322C=)
c.3008C= (p.Ser1003=)
c.2975C= (p.Ser992=)
c.3188C= (p.Ser1063=)
Xg.53235000G>TCA413141465IQSEC2c.3845C>A (p.Ser1282Tyr)
c.1453+783C>A
c.962+783C>A
c.316+1322C>A (n.316+1322C>A)
c.514+1322C>A (n.514+1322C>A)
c.*171C>A (n.*171C>A)
c.3686C>A (p.Ser1229Tyr)
c.3656C>A (p.Ser1219Tyr)
c.3782C>A (p.Ser1261Tyr)
c.3071C>A (p.Ser1024Tyr)
c.3597+783C>A (n.3597+783C>A)
c.3547+1322C>A (n.3547+1322C>A)
c.3008C>A (p.Ser1003Tyr)
c.2975C>A (p.Ser992Tyr)
c.3188C>A (p.Ser1063Tyr)
Xg.53235001A>CCA413141470IQSEC2c.3844T>G (p.Ser1282Ala)
c.1453+782T>G
c.962+782T>G
c.316+1321T>G (n.316+1321T>G)
c.514+1321T>G (n.514+1321T>G)
c.*170T>G (n.*170T>G)
c.3685T>G (p.Ser1229Ala)
c.3655T>G (p.Ser1219Ala)
c.3781T>G (p.Ser1261Ala)
c.3070T>G (p.Ser1024Ala)
c.3597+782T>G (n.3597+782T>G)
c.3547+1321T>G (n.3547+1321T>G)
c.3007T>G (p.Ser1003Ala)
c.2974T>G (p.Ser992Ala)
c.3187T>G (p.Ser1063Ala)
Xg.53235001A>GCA413141473IQSEC2c.3844T>C (p.Ser1282Pro)
c.1453+782T>C
c.962+782T>C
c.316+1321T>C (n.316+1321T>C)
c.514+1321T>C (n.514+1321T>C)
c.*170T>C (n.*170T>C)
c.3685T>C (p.Ser1229Pro)
c.3655T>C (p.Ser1219Pro)
c.3781T>C (p.Ser1261Pro)
c.3070T>C (p.Ser1024Pro)
c.3597+782T>C (n.3597+782T>C)
c.3547+1321T>C (n.3547+1321T>C)
c.3007T>C (p.Ser1003Pro)
c.2974T>C (p.Ser992Pro)
c.3187T>C (p.Ser1063Pro)
Xg.53235001A>TCA413141475IQSEC2c.3844T>A (p.Ser1282Thr)
c.1453+782T>A
c.962+782T>A
c.316+1321T>A (n.316+1321T>A)
c.514+1321T>A (n.514+1321T>A)
c.*170T>A (n.*170T>A)
c.3685T>A (p.Ser1229Thr)
c.3655T>A (p.Ser1219Thr)
c.3781T>A (p.Ser1261Thr)
c.3070T>A (p.Ser1024Thr)
c.3597+782T>A (n.3597+782T>A)
c.3547+1321T>A (n.3547+1321T>A)
c.3007T>A (p.Ser1003Thr)
c.2974T>A (p.Ser992Thr)
c.3187T>A (p.Ser1063Thr)
Xg.53235002G>ACA516673757IQSEC2c.3843C>T (p.Ala1281=)
c.1453+781C>T
c.962+781C>T
c.316+1320C>T (n.316+1320C>T)
c.514+1320C>T (n.514+1320C>T)
c.*169C>T (n.*169C>T)
c.3684C>T (p.Ala1228=)
c.3654C>T (p.Ala1218=)
c.3780C>T (p.Ala1260=)
c.3069C>T (p.Ala1023=)
c.3597+781C>T (n.3597+781C>T)
c.3547+1320C>T (n.3547+1320C>T)
c.3006C>T (p.Ala1002=)
c.2973C>T (p.Ala991=)
c.3186C>T (p.Ala1062=)
Xg.53235002G>CCA516673758IQSEC2c.3843C>G (p.Ala1281=)
c.1453+781C>G
c.962+781C>G
c.316+1320C>G (n.316+1320C>G)
c.514+1320C>G (n.514+1320C>G)
c.*169C>G (n.*169C>G)
c.3684C>G (p.Ala1228=)
c.3654C>G (p.Ala1218=)
c.3780C>G (p.Ala1260=)
c.3069C>G (p.Ala1023=)
c.3597+781C>G (n.3597+781C>G)
c.3547+1320C>G (n.3547+1320C>G)
c.3006C>G (p.Ala1002=)
c.2973C>G (p.Ala991=)
c.3186C>G (p.Ala1062=)
Xg.53235002G>TCA516673759IQSEC2c.3843C>A (p.Ala1281=)
c.1453+781C>A
c.962+781C>A
c.316+1320C>A (n.316+1320C>A)
c.514+1320C>A (n.514+1320C>A)
c.*169C>A (n.*169C>A)
c.3684C>A (p.Ala1228=)
c.3654C>A (p.Ala1218=)
c.3780C>A (p.Ala1260=)
c.3069C>A (p.Ala1023=)
c.3597+781C>A (n.3597+781C>A)
c.3547+1320C>A (n.3547+1320C>A)
c.3006C>A (p.Ala1002=)
c.2973C>A (p.Ala991=)
c.3186C>A (p.Ala1062=)
Xg.53235008_53235012delCA2579614716IQSEC2c.3839_3843del (p.Gln1280LeufsTer22)
c.1453+777_1453+781del
c.962+777_962+781del
c.316+1316_316+1320del (n.316+1316_316+1320del)
c.514+1316_514+1320del (n.514+1316_514+1320del)
c.*165_*169del (n.*165_*169del)
c.3680_3684del (p.Gln1227LeufsTer22)
c.3650_3654del (p.Gln1217LeufsTer22)
c.3776_3780del (p.Gln1259LeufsTer22)
c.3065_3069del (p.Gln1022LeufsTer22)
c.3597+777_3597+781del (n.3597+777_3597+781del)
c.3547+1316_3547+1320del (n.3547+1316_3547+1320del)
c.3002_3006del (p.Gln1001LeufsTer22)
c.2969_2973del (p.Gln990LeufsTer22)
c.3182_3186del (p.Gln1061LeufsTer22)
Xg.53235003G>ACA413141484IQSEC2c.3842C>T (p.Ala1281Val)
c.1453+780C>T
c.962+780C>T
c.316+1319C>T (n.316+1319C>T)
c.514+1319C>T (n.514+1319C>T)
c.*168C>T (n.*168C>T)
c.3683C>T (p.Ala1228Val)
c.3653C>T (p.Ala1218Val)
c.3779C>T (p.Ala1260Val)
c.3068C>T (p.Ala1023Val)
c.3597+780C>T (n.3597+780C>T)
c.3547+1319C>T (n.3547+1319C>T)
c.3005C>T (p.Ala1002Val)
c.2972C>T (p.Ala991Val)
c.3185C>T (p.Ala1062Val)
 ClinVar dbSNP
Xg.53235003G>CCA413141487IQSEC2c.3842C>G (p.Ala1281Gly)
c.1453+780C>G
c.962+780C>G
c.316+1319C>G (n.316+1319C>G)
c.514+1319C>G (n.514+1319C>G)
c.*168C>G (n.*168C>G)
c.3683C>G (p.Ala1228Gly)
c.3653C>G (p.Ala1218Gly)
c.3779C>G (p.Ala1260Gly)
c.3068C>G (p.Ala1023Gly)
c.3597+780C>G (n.3597+780C>G)
c.3547+1319C>G (n.3547+1319C>G)
c.3005C>G (p.Ala1002Gly)
c.2972C>G (p.Ala991Gly)
c.3185C>G (p.Ala1062Gly)
Xg.53235003G>TCA413141481IQSEC2c.3842C>A (p.Ala1281Asp)
c.1453+780C>A
c.962+780C>A
c.316+1319C>A (n.316+1319C>A)
c.514+1319C>A (n.514+1319C>A)
c.*168C>A (n.*168C>A)
c.3683C>A (p.Ala1228Asp)
c.3653C>A (p.Ala1218Asp)
c.3779C>A (p.Ala1260Asp)
c.3068C>A (p.Ala1023Asp)
c.3597+780C>A (n.3597+780C>A)
c.3547+1319C>A (n.3547+1319C>A)
c.3005C>A (p.Ala1002Asp)
c.2972C>A (p.Ala991Asp)
c.3185C>A (p.Ala1062Asp)
Xg.53235004C>ACA413141491IQSEC2c.3841G>T (p.Ala1281Ser)
c.1453+779G>T
c.962+779G>T
c.316+1318G>T (n.316+1318G>T)
c.514+1318G>T (n.514+1318G>T)
c.*167G>T (n.*167G>T)
c.3682G>T (p.Ala1228Ser)
c.3652G>T (p.Ala1218Ser)
c.3778G>T (p.Ala1260Ser)
c.3067G>T (p.Ala1023Ser)
c.3597+779G>T (n.3597+779G>T)
c.3547+1318G>T (n.3547+1318G>T)
c.3004G>T (p.Ala1002Ser)
c.2971G>T (p.Ala991Ser)
c.3184G>T (p.Ala1062Ser)
 dbSNP
Xg.53235004C=CA2429770667IQSEC2c.3841G= (p.Ala1281=)
c.1453+779G=
c.962+779G=
c.316+1318G= (n.316+1318G=)
c.514+1318G= (n.514+1318G=)
c.*167G= (n.*167G=)
c.3682G= (p.Ala1228=)
c.3652G= (p.Ala1218=)
c.3778G= (p.Ala1260=)
c.3067G= (p.Ala1023=)
c.3597+779G= (n.3597+779G=)
c.3547+1318G= (n.3547+1318G=)
c.3004G= (p.Ala1002=)
c.2971G= (p.Ala991=)
c.3184G= (p.Ala1062=)
Xg.53235004C>GCA413141494IQSEC2c.3841G>C (p.Ala1281Pro)
c.1453+779G>C
c.962+779G>C
c.316+1318G>C (n.316+1318G>C)
c.514+1318G>C (n.514+1318G>C)
c.*167G>C (n.*167G>C)
c.3682G>C (p.Ala1228Pro)
c.3652G>C (p.Ala1218Pro)
c.3778G>C (p.Ala1260Pro)
c.3067G>C (p.Ala1023Pro)
c.3597+779G>C (n.3597+779G>C)
c.3547+1318G>C (n.3547+1318G>C)
c.3004G>C (p.Ala1002Pro)
c.2971G>C (p.Ala991Pro)
c.3184G>C (p.Ala1062Pro)
 dbSNP
Xg.53235004C>TCA413141498IQSEC2c.3841G>A (p.Ala1281Thr)
c.1453+779G>A
c.962+779G>A
c.316+1318G>A (n.316+1318G>A)
c.514+1318G>A (n.514+1318G>A)
c.*167G>A (n.*167G>A)
c.3682G>A (p.Ala1228Thr)
c.3652G>A (p.Ala1218Thr)
c.3778G>A (p.Ala1260Thr)
c.3067G>A (p.Ala1023Thr)
c.3597+779G>A (n.3597+779G>A)
c.3547+1318G>A (n.3547+1318G>A)
c.3004G>A (p.Ala1002Thr)
c.2971G>A (p.Ala991Thr)
c.3184G>A (p.Ala1062Thr)
Xg.53235005C>ACA413141502IQSEC2c.3840G>T (p.Gln1280His)
c.1453+778G>T
c.962+778G>T
c.316+1317G>T (n.316+1317G>T)
c.514+1317G>T (n.514+1317G>T)
c.*166G>T (n.*166G>T)
c.3681G>T (p.Gln1227His)
c.3651G>T (p.Gln1217His)
c.3777G>T (p.Gln1259His)
c.3066G>T (p.Gln1022His)
c.3597+778G>T (n.3597+778G>T)
c.3547+1317G>T (n.3547+1317G>T)
c.3003G>T (p.Gln1001His)
c.2970G>T (p.Gln990His)
c.3183G>T (p.Gln1061His)
Xg.53235005C=CA2429770668IQSEC2c.3840G= (p.Gln1280=)
c.1453+778G=
c.962+778G=
c.316+1317G= (n.316+1317G=)
c.514+1317G= (n.514+1317G=)
c.*166G= (n.*166G=)
c.3681G= (p.Gln1227=)
c.3651G= (p.Gln1217=)
c.3777G= (p.Gln1259=)
c.3066G= (p.Gln1022=)
c.3597+778G= (n.3597+778G=)
c.3547+1317G= (n.3547+1317G=)
c.3003G= (p.Gln1001=)
c.2970G= (p.Gln990=)
c.3183G= (p.Gln1061=)
Xg.53235005C>GCA413141504IQSEC2c.3840G>C (p.Gln1280His)
c.1453+778G>C
c.962+778G>C
c.316+1317G>C (n.316+1317G>C)
c.514+1317G>C (n.514+1317G>C)
c.*166G>C (n.*166G>C)
c.3681G>C (p.Gln1227His)
c.3651G>C (p.Gln1217His)
c.3777G>C (p.Gln1259His)
c.3066G>C (p.Gln1022His)
c.3597+778G>C (n.3597+778G>C)
c.3547+1317G>C (n.3547+1317G>C)
c.3003G>C (p.Gln1001His)
c.2970G>C (p.Gln990His)
c.3183G>C (p.Gln1061His)
Xg.53235005C>TCA516673766IQSEC2c.3840G>A (p.Gln1280=)
c.1453+778G>A
c.962+778G>A
c.316+1317G>A (n.316+1317G>A)
c.514+1317G>A (n.514+1317G>A)
c.*166G>A (n.*166G>A)
c.3681G>A (p.Gln1227=)
c.3651G>A (p.Gln1217=)
c.3777G>A (p.Gln1259=)
c.3066G>A (p.Gln1022=)
c.3597+778G>A (n.3597+778G>A)
c.3547+1317G>A (n.3547+1317G>A)
c.3003G>A (p.Gln1001=)
c.2970G>A (p.Gln990=)
c.3183G>A (p.Gln1061=)
 dbSNP
Xg.53235006delCA2820950202IQSEC2c.3839del (p.Gln1280ArgfsTer?)
c.1453+777del
c.962+777del
c.316+1316del (n.316+1316del)
c.514+1316del (n.514+1316del)
c.*165del (n.*165del)
c.3680del (p.Gln1227ArgfsTer?)
c.3650del (p.Gln1217ArgfsTer?)
c.3776del (p.Gln1259ArgfsTer?)
c.3065del (p.Gln1022ArgfsTer?)
c.3597+777del (n.3597+777del)
c.3547+1316del (n.3547+1316del)
c.3002del (p.Gln1001ArgfsTer?)
c.2969del (p.Gln990ArgfsTer?)
c.3182del (p.Gln1061ArgfsTer?)
Xg.53235006T>ACA413141513IQSEC2c.3839A>T (p.Gln1280Leu)
c.1453+777A>T
c.962+777A>T
c.316+1316A>T (n.316+1316A>T)
c.514+1316A>T (n.514+1316A>T)
c.*165A>T (n.*165A>T)
c.3680A>T (p.Gln1227Leu)
c.3650A>T (p.Gln1217Leu)
c.3776A>T (p.Gln1259Leu)
c.3065A>T (p.Gln1022Leu)
c.3597+777A>T (n.3597+777A>T)
c.3547+1316A>T (n.3547+1316A>T)
c.3002A>T (p.Gln1001Leu)
c.2969A>T (p.Gln990Leu)
c.3182A>T (p.Gln1061Leu)
Xg.53235006T>CCA413141511IQSEC2c.3839A>G (p.Gln1280Arg)
c.1453+777A>G
c.962+777A>G
c.316+1316A>G (n.316+1316A>G)
c.514+1316A>G (n.514+1316A>G)
c.*165A>G (n.*165A>G)
c.3680A>G (p.Gln1227Arg)
c.3650A>G (p.Gln1217Arg)
c.3776A>G (p.Gln1259Arg)
c.3065A>G (p.Gln1022Arg)
c.3597+777A>G (n.3597+777A>G)
c.3547+1316A>G (n.3547+1316A>G)
c.3002A>G (p.Gln1001Arg)
c.2969A>G (p.Gln990Arg)
c.3182A>G (p.Gln1061Arg)
Xg.53235006T>GCA413141508IQSEC2c.3839A>C (p.Gln1280Pro)
c.1453+777A>C
c.962+777A>C
c.316+1316A>C (n.316+1316A>C)
c.514+1316A>C (n.514+1316A>C)
c.*165A>C (n.*165A>C)
c.3680A>C (p.Gln1227Pro)
c.3650A>C (p.Gln1217Pro)
c.3776A>C (p.Gln1259Pro)
c.3065A>C (p.Gln1022Pro)
c.3597+777A>C (n.3597+777A>C)
c.3547+1316A>C (n.3547+1316A>C)
c.3002A>C (p.Gln1001Pro)
c.2969A>C (p.Gln990Pro)
c.3182A>C (p.Gln1061Pro)
Xg.53235007G>ACA413141517IQSEC2c.3838C>T (p.Gln1280Ter)
c.1453+776C>T
c.962+776C>T
c.316+1315C>T (n.316+1315C>T)
c.514+1315C>T (n.514+1315C>T)
c.*164C>T (n.*164C>T)
c.3679C>T (p.Gln1227Ter)
c.3649C>T (p.Gln1217Ter)
c.3775C>T (p.Gln1259Ter)
c.3064C>T (p.Gln1022Ter)
c.3597+776C>T (n.3597+776C>T)
c.3547+1315C>T (n.3547+1315C>T)
c.3001C>T (p.Gln1001Ter)
c.2968C>T (p.Gln990Ter)
c.3181C>T (p.Gln1061Ter)
 ClinVar dbSNP
Xg.53235007G>CCA413141519IQSEC2c.3838C>G (p.Gln1280Glu)
c.1453+776C>G
c.962+776C>G
c.316+1315C>G (n.316+1315C>G)
c.514+1315C>G (n.514+1315C>G)
c.*164C>G (n.*164C>G)
c.3679C>G (p.Gln1227Glu)
c.3649C>G (p.Gln1217Glu)
c.3775C>G (p.Gln1259Glu)
c.3064C>G (p.Gln1022Glu)
c.3597+776C>G (n.3597+776C>G)
c.3547+1315C>G (n.3547+1315C>G)
c.3001C>G (p.Gln1001Glu)
c.2968C>G (p.Gln990Glu)
c.3181C>G (p.Gln1061Glu)
Xg.53235007G=CA2429770669IQSEC2c.3838C= (p.Gln1280=)
c.1453+776C=
c.962+776C=
c.316+1315C= (n.316+1315C=)
c.514+1315C= (n.514+1315C=)
c.*164C= (n.*164C=)
c.3679C= (p.Gln1227=)
c.3649C= (p.Gln1217=)
c.3775C= (p.Gln1259=)
c.3064C= (p.Gln1022=)
c.3597+776C= (n.3597+776C=)
c.3547+1315C= (n.3547+1315C=)
c.3001C= (p.Gln1001=)
c.2968C= (p.Gln990=)
c.3181C= (p.Gln1061=)
Xg.53235007G>TCA413141522IQSEC2c.3838C>A (p.Gln1280Lys)
c.1453+776C>A
c.962+776C>A
c.316+1315C>A (n.316+1315C>A)
c.514+1315C>A (n.514+1315C>A)
c.*164C>A (n.*164C>A)
c.3679C>A (p.Gln1227Lys)
c.3649C>A (p.Gln1217Lys)
c.3775C>A (p.Gln1259Lys)
c.3064C>A (p.Gln1022Lys)
c.3597+776C>A (n.3597+776C>A)
c.3547+1315C>A (n.3547+1315C>A)
c.3001C>A (p.Gln1001Lys)
c.2968C>A (p.Gln990Lys)
c.3181C>A (p.Gln1061Lys)
Xg.53235008G>ACA516673769IQSEC2c.3837C>T (p.Gly1279=)
c.1453+775C>T
c.962+775C>T
c.316+1314C>T (n.316+1314C>T)
c.514+1314C>T (n.514+1314C>T)
c.*163C>T (n.*163C>T)
c.3678C>T (p.Gly1226=)
c.3648C>T (p.Gly1216=)
c.3774C>T (p.Gly1258=)
c.3063C>T (p.Gly1021=)
c.3597+775C>T (n.3597+775C>T)
c.3547+1314C>T (n.3547+1314C>T)
c.3000C>T (p.Gly1000=)
c.2967C>T (p.Gly989=)
c.3180C>T (p.Gly1060=)
Xg.53235008G>CCA516673770IQSEC2c.3837C>G (p.Gly1279=)
c.1453+775C>G
c.962+775C>G
c.316+1314C>G (n.316+1314C>G)
c.514+1314C>G (n.514+1314C>G)
c.*163C>G (n.*163C>G)
c.3678C>G (p.Gly1226=)
c.3648C>G (p.Gly1216=)
c.3774C>G (p.Gly1258=)
c.3063C>G (p.Gly1021=)
c.3597+775C>G (n.3597+775C>G)
c.3547+1314C>G (n.3547+1314C>G)
c.3000C>G (p.Gly1000=)
c.2967C>G (p.Gly989=)
c.3180C>G (p.Gly1060=)
Xg.53235008G>TCA516673772IQSEC2c.3837C>A (p.Gly1279=)
c.1453+775C>A
c.962+775C>A
c.316+1314C>A (n.316+1314C>A)
c.514+1314C>A (n.514+1314C>A)
c.*163C>A (n.*163C>A)
c.3678C>A (p.Gly1226=)
c.3648C>A (p.Gly1216=)
c.3774C>A (p.Gly1258=)
c.3063C>A (p.Gly1021=)
c.3597+775C>A (n.3597+775C>A)
c.3547+1314C>A (n.3547+1314C>A)
c.3000C>A (p.Gly1000=)
c.2967C>A (p.Gly989=)
c.3180C>A (p.Gly1060=)
 gnomAD v4
Xg.53235009C>ACA413141527IQSEC2c.3836G>T (p.Gly1279Val)
c.1453+774G>T
c.962+774G>T
c.316+1313G>T (n.316+1313G>T)
c.514+1313G>T (n.514+1313G>T)
c.*162G>T (n.*162G>T)
c.3677G>T (p.Gly1226Val)
c.3647G>T (p.Gly1216Val)
c.3773G>T (p.Gly1258Val)
c.3062G>T (p.Gly1021Val)
c.3597+774G>T (n.3597+774G>T)
c.3547+1313G>T (n.3547+1313G>T)
c.2999G>T (p.Gly1000Val)
c.2966G>T (p.Gly989Val)
c.3179G>T (p.Gly1060Val)
Xg.53235009C>GCA413141529IQSEC2c.3836G>C (p.Gly1279Ala)
c.1453+774G>C
c.962+774G>C
c.316+1313G>C (n.316+1313G>C)
c.514+1313G>C (n.514+1313G>C)
c.*162G>C (n.*162G>C)
c.3677G>C (p.Gly1226Ala)
c.3647G>C (p.Gly1216Ala)
c.3773G>C (p.Gly1258Ala)
c.3062G>C (p.Gly1021Ala)
c.3597+774G>C (n.3597+774G>C)
c.3547+1313G>C (n.3547+1313G>C)
c.2999G>C (p.Gly1000Ala)
c.2966G>C (p.Gly989Ala)
c.3179G>C (p.Gly1060Ala)
Xg.53235009C>TCA413141531IQSEC2c.3836G>A (p.Gly1279Asp)
c.1453+774G>A
c.962+774G>A
c.316+1313G>A (n.316+1313G>A)
c.514+1313G>A (n.514+1313G>A)
c.*162G>A (n.*162G>A)
c.3677G>A (p.Gly1226Asp)
c.3647G>A (p.Gly1216Asp)
c.3773G>A (p.Gly1258Asp)
c.3062G>A (p.Gly1021Asp)
c.3597+774G>A (n.3597+774G>A)
c.3547+1313G>A (n.3547+1313G>A)
c.2999G>A (p.Gly1000Asp)
c.2966G>A (p.Gly989Asp)
c.3179G>A (p.Gly1060Asp)
Xg.53235010C>ACA413141537IQSEC2c.3835G>T (p.Gly1279Cys)
c.1453+773G>T
c.962+773G>T
c.316+1312G>T (n.316+1312G>T)
c.514+1312G>T (n.514+1312G>T)
c.*161G>T (n.*161G>T)
c.3676G>T (p.Gly1226Cys)
c.3646G>T (p.Gly1216Cys)
c.3772G>T (p.Gly1258Cys)
c.3061G>T (p.Gly1021Cys)
c.3597+773G>T (n.3597+773G>T)
c.3547+1312G>T (n.3547+1312G>T)
c.2998G>T (p.Gly1000Cys)
c.2965G>T (p.Gly989Cys)
c.3178G>T (p.Gly1060Cys)
Xg.53235010C>GCA413141542IQSEC2c.3835G>C (p.Gly1279Arg)
c.1453+773G>C
c.962+773G>C
c.316+1312G>C (n.316+1312G>C)
c.514+1312G>C (n.514+1312G>C)
c.*161G>C (n.*161G>C)
c.3676G>C (p.Gly1226Arg)
c.3646G>C (p.Gly1216Arg)
c.3772G>C (p.Gly1258Arg)
c.3061G>C (p.Gly1021Arg)
c.3597+773G>C (n.3597+773G>C)
c.3547+1312G>C (n.3547+1312G>C)
c.2998G>C (p.Gly1000Arg)
c.2965G>C (p.Gly989Arg)
c.3178G>C (p.Gly1060Arg)
Xg.53235010C>TCA413141539IQSEC2c.3835G>A (p.Gly1279Ser)
c.1453+773G>A
c.962+773G>A
c.316+1312G>A (n.316+1312G>A)
c.514+1312G>A (n.514+1312G>A)
c.*161G>A (n.*161G>A)
c.3676G>A (p.Gly1226Ser)
c.3646G>A (p.Gly1216Ser)
c.3772G>A (p.Gly1258Ser)
c.3061G>A (p.Gly1021Ser)
c.3597+773G>A (n.3597+773G>A)
c.3547+1312G>A (n.3547+1312G>A)
c.2998G>A (p.Gly1000Ser)
c.2965G>A (p.Gly989Ser)
c.3178G>A (p.Gly1060Ser)
 gnomAD v4
Xg.53235011T>ACA516673776IQSEC2c.3834A>T (p.Thr1278=)
c.1453+772A>T
c.962+772A>T
c.316+1311A>T (n.316+1311A>T)
c.514+1311A>T (n.514+1311A>T)
c.*160A>T (n.*160A>T)
c.3675A>T (p.Thr1225=)
c.3645A>T (p.Thr1215=)
c.3771A>T (p.Thr1257=)
c.3060A>T (p.Thr1020=)
c.3597+772A>T (n.3597+772A>T)
c.3547+1311A>T (n.3547+1311A>T)
c.2997A>T (p.Thr999=)
c.2964A>T (p.Thr988=)
c.3177A>T (p.Thr1059=)
Xg.53235011T>CCA516673777IQSEC2c.3834A>G (p.Thr1278=)
c.1453+772A>G
c.962+772A>G
c.316+1311A>G (n.316+1311A>G)
c.514+1311A>G (n.514+1311A>G)
c.*160A>G (n.*160A>G)
c.3675A>G (p.Thr1225=)
c.3645A>G (p.Thr1215=)
c.3771A>G (p.Thr1257=)
c.3060A>G (p.Thr1020=)
c.3597+772A>G (n.3597+772A>G)
c.3547+1311A>G (n.3547+1311A>G)
c.2997A>G (p.Thr999=)
c.2964A>G (p.Thr988=)
c.3177A>G (p.Thr1059=)
 dbSNP
Xg.53235011T>GCA516673778IQSEC2c.3834A>C (p.Thr1278=)
c.1453+772A>C
c.962+772A>C
c.316+1311A>C (n.316+1311A>C)
c.514+1311A>C (n.514+1311A>C)
c.*160A>C (n.*160A>C)
c.3675A>C (p.Thr1225=)
c.3645A>C (p.Thr1215=)
c.3771A>C (p.Thr1257=)
c.3060A>C (p.Thr1020=)
c.3597+772A>C (n.3597+772A>C)
c.3547+1311A>C (n.3547+1311A>C)
c.2997A>C (p.Thr999=)
c.2964A>C (p.Thr988=)
c.3177A>C (p.Thr1059=)
Xg.53235011T=CA2429770670IQSEC2c.3834A= (p.Thr1278=)
c.1453+772A=
c.962+772A=
c.316+1311A= (n.316+1311A=)
c.514+1311A= (n.514+1311A=)
c.*160A= (n.*160A=)
c.3675A= (p.Thr1225=)
c.3645A= (p.Thr1215=)
c.3771A= (p.Thr1257=)
c.3060A= (p.Thr1020=)
c.3597+772A= (n.3597+772A=)
c.3547+1311A= (n.3547+1311A=)
c.2997A= (p.Thr999=)
c.2964A= (p.Thr988=)
c.3177A= (p.Thr1059=)
Xg.53235012G>ACA413141546IQSEC2c.3833C>T (p.Thr1278Ile)
c.1453+771C>T
c.962+771C>T
c.316+1310C>T (n.316+1310C>T)
c.514+1310C>T (n.514+1310C>T)
c.*159C>T (n.*159C>T)
c.3674C>T (p.Thr1225Ile)
c.3644C>T (p.Thr1215Ile)
c.3770C>T (p.Thr1257Ile)
c.3059C>T (p.Thr1020Ile)
c.3597+771C>T (n.3597+771C>T)
c.3547+1310C>T (n.3547+1310C>T)
c.2996C>T (p.Thr999Ile)
c.2963C>T (p.Thr988Ile)
c.3176C>T (p.Thr1059Ile)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.53235012G>CCA413141548IQSEC2c.3833C>G (p.Thr1278Arg)
c.1453+771C>G
c.962+771C>G
c.316+1310C>G (n.316+1310C>G)
c.514+1310C>G (n.514+1310C>G)
c.*159C>G (n.*159C>G)
c.3674C>G (p.Thr1225Arg)
c.3644C>G (p.Thr1215Arg)
c.3770C>G (p.Thr1257Arg)
c.3059C>G (p.Thr1020Arg)
c.3597+771C>G (n.3597+771C>G)
c.3547+1310C>G (n.3547+1310C>G)
c.2996C>G (p.Thr999Arg)
c.2963C>G (p.Thr988Arg)
c.3176C>G (p.Thr1059Arg)
Xg.53235012G>TCA413141551IQSEC2c.3833C>A (p.Thr1278Lys)
c.1453+771C>A
c.962+771C>A
c.316+1310C>A (n.316+1310C>A)
c.514+1310C>A (n.514+1310C>A)
c.*159C>A (n.*159C>A)
c.3674C>A (p.Thr1225Lys)
c.3644C>A (p.Thr1215Lys)
c.3770C>A (p.Thr1257Lys)
c.3059C>A (p.Thr1020Lys)
c.3597+771C>A (n.3597+771C>A)
c.3547+1310C>A (n.3547+1310C>A)
c.2996C>A (p.Thr999Lys)
c.2963C>A (p.Thr988Lys)
c.3176C>A (p.Thr1059Lys)
Xg.53235013T>ACA413141555IQSEC2c.3832A>T (p.Thr1278Ser)
c.1453+770A>T
c.962+770A>T
c.316+1309A>T (n.316+1309A>T)
c.514+1309A>T (n.514+1309A>T)
c.*158A>T (n.*158A>T)
c.3673A>T (p.Thr1225Ser)
c.3643A>T (p.Thr1215Ser)
c.3769A>T (p.Thr1257Ser)
c.3058A>T (p.Thr1020Ser)
c.3597+770A>T (n.3597+770A>T)
c.3547+1309A>T (n.3547+1309A>T)
c.2995A>T (p.Thr999Ser)
c.2962A>T (p.Thr988Ser)
c.3175A>T (p.Thr1059Ser)
Xg.53235013T>CCA413141563IQSEC2c.3832A>G (p.Thr1278Ala)
c.1453+770A>G
c.962+770A>G
c.316+1309A>G (n.316+1309A>G)
c.514+1309A>G (n.514+1309A>G)
c.*158A>G (n.*158A>G)
c.3673A>G (p.Thr1225Ala)
c.3643A>G (p.Thr1215Ala)
c.3769A>G (p.Thr1257Ala)
c.3058A>G (p.Thr1020Ala)
c.3597+770A>G (n.3597+770A>G)
c.3547+1309A>G (n.3547+1309A>G)
c.2995A>G (p.Thr999Ala)
c.2962A>G (p.Thr988Ala)
c.3175A>G (p.Thr1059Ala)
Xg.53235013T>GCA413141565IQSEC2c.3832A>C (p.Thr1278Pro)
c.1453+770A>C
c.962+770A>C
c.316+1309A>C (n.316+1309A>C)
c.514+1309A>C (n.514+1309A>C)
c.*158A>C (n.*158A>C)
c.3673A>C (p.Thr1225Pro)
c.3643A>C (p.Thr1215Pro)
c.3769A>C (p.Thr1257Pro)
c.3058A>C (p.Thr1020Pro)
c.3597+770A>C (n.3597+770A>C)
c.3547+1309A>C (n.3547+1309A>C)
c.2995A>C (p.Thr999Pro)
c.2962A>C (p.Thr988Pro)
c.3175A>C (p.Thr1059Pro)
Xg.53235014T>ACA516673783IQSEC2c.3831A>T (p.Pro1277=)
c.1453+769A>T
c.962+769A>T
c.316+1308A>T (n.316+1308A>T)
c.514+1308A>T (n.514+1308A>T)
c.*157A>T (n.*157A>T)
c.3672A>T (p.Pro1224=)
c.3642A>T (p.Pro1214=)
c.3768A>T (p.Pro1256=)
c.3057A>T (p.Pro1019=)
c.3597+769A>T (n.3597+769A>T)
c.3547+1308A>T (n.3547+1308A>T)
c.2994A>T (p.Pro998=)
c.2961A>T (p.Pro987=)
c.3174A>T (p.Pro1058=)
Xg.53235014T>CCA516673784IQSEC2c.3831A>G (p.Pro1277=)
c.1453+769A>G
c.962+769A>G
c.316+1308A>G (n.316+1308A>G)
c.514+1308A>G (n.514+1308A>G)
c.*157A>G (n.*157A>G)
c.3672A>G (p.Pro1224=)
c.3642A>G (p.Pro1214=)
c.3768A>G (p.Pro1256=)
c.3057A>G (p.Pro1019=)
c.3597+769A>G (n.3597+769A>G)
c.3547+1308A>G (n.3547+1308A>G)
c.2994A>G (p.Pro998=)
c.2961A>G (p.Pro987=)
c.3174A>G (p.Pro1058=)
Xg.53235014T>GCA516673785IQSEC2c.3831A>C (p.Pro1277=)
c.1453+769A>C
c.962+769A>C
c.316+1308A>C (n.316+1308A>C)
c.514+1308A>C (n.514+1308A>C)
c.*157A>C (n.*157A>C)
c.3672A>C (p.Pro1224=)
c.3642A>C (p.Pro1214=)
c.3768A>C (p.Pro1256=)
c.3057A>C (p.Pro1019=)
c.3597+769A>C (n.3597+769A>C)
c.3547+1308A>C (n.3547+1308A>C)
c.2994A>C (p.Pro998=)
c.2961A>C (p.Pro987=)
c.3174A>C (p.Pro1058=)
Xg.53235015G>ACA413141569IQSEC2c.3830C>T (p.Pro1277Leu)
c.1453+768C>T
c.962+768C>T
c.316+1307C>T (n.316+1307C>T)
c.514+1307C>T (n.514+1307C>T)
c.*156C>T (n.*156C>T)
c.3671C>T (p.Pro1224Leu)
c.3641C>T (p.Pro1214Leu)
c.3767C>T (p.Pro1256Leu)
c.3056C>T (p.Pro1019Leu)
c.3597+768C>T (n.3597+768C>T)
c.3547+1307C>T (n.3547+1307C>T)
c.2993C>T (p.Pro998Leu)
c.2960C>T (p.Pro987Leu)
c.3173C>T (p.Pro1058Leu)
Xg.53235015G>CCA413141572IQSEC2c.3830C>G (p.Pro1277Arg)
c.1453+768C>G
c.962+768C>G
c.316+1307C>G (n.316+1307C>G)
c.514+1307C>G (n.514+1307C>G)
c.*156C>G (n.*156C>G)
c.3671C>G (p.Pro1224Arg)
c.3641C>G (p.Pro1214Arg)
c.3767C>G (p.Pro1256Arg)
c.3056C>G (p.Pro1019Arg)
c.3597+768C>G (n.3597+768C>G)
c.3547+1307C>G (n.3547+1307C>G)
c.2993C>G (p.Pro998Arg)
c.2960C>G (p.Pro987Arg)
c.3173C>G (p.Pro1058Arg)
Xg.53235015G>TCA413141576IQSEC2c.3830C>A (p.Pro1277Gln)
c.1453+768C>A
c.962+768C>A
c.316+1307C>A (n.316+1307C>A)
c.514+1307C>A (n.514+1307C>A)
c.*156C>A (n.*156C>A)
c.3671C>A (p.Pro1224Gln)
c.3641C>A (p.Pro1214Gln)
c.3767C>A (p.Pro1256Gln)
c.3056C>A (p.Pro1019Gln)
c.3597+768C>A (n.3597+768C>A)
c.3547+1307C>A (n.3547+1307C>A)
c.2993C>A (p.Pro998Gln)
c.2960C>A (p.Pro987Gln)
c.3173C>A (p.Pro1058Gln)
Xg.53235016G>ACA413141580IQSEC2c.3829C>T (p.Pro1277Ser)
c.1453+767C>T
c.962+767C>T
c.316+1306C>T (n.316+1306C>T)
c.514+1306C>T (n.514+1306C>T)
c.*155C>T (n.*155C>T)
c.3670C>T (p.Pro1224Ser)
c.3640C>T (p.Pro1214Ser)
c.3766C>T (p.Pro1256Ser)
c.3055C>T (p.Pro1019Ser)
c.3597+767C>T (n.3597+767C>T)
c.3547+1306C>T (n.3547+1306C>T)
c.2992C>T (p.Pro998Ser)
c.2959C>T (p.Pro987Ser)
c.3172C>T (p.Pro1058Ser)
Xg.53235016G>CCA413141583IQSEC2c.3829C>G (p.Pro1277Ala)
c.1453+767C>G
c.962+767C>G
c.316+1306C>G (n.316+1306C>G)
c.514+1306C>G (n.514+1306C>G)
c.*155C>G (n.*155C>G)
c.3670C>G (p.Pro1224Ala)
c.3640C>G (p.Pro1214Ala)
c.3766C>G (p.Pro1256Ala)
c.3055C>G (p.Pro1019Ala)
c.3597+767C>G (n.3597+767C>G)
c.3547+1306C>G (n.3547+1306C>G)
c.2992C>G (p.Pro998Ala)
c.2959C>G (p.Pro987Ala)
c.3172C>G (p.Pro1058Ala)
Xg.53235016G>TCA413141586IQSEC2c.3829C>A (p.Pro1277Thr)
c.1453+767C>A
c.962+767C>A
c.316+1306C>A (n.316+1306C>A)
c.514+1306C>A (n.514+1306C>A)
c.*155C>A (n.*155C>A)
c.3670C>A (p.Pro1224Thr)
c.3640C>A (p.Pro1214Thr)
c.3766C>A (p.Pro1256Thr)
c.3055C>A (p.Pro1019Thr)
c.3597+767C>A (n.3597+767C>A)
c.3547+1306C>A (n.3547+1306C>A)
c.2992C>A (p.Pro998Thr)
c.2959C>A (p.Pro987Thr)
c.3172C>A (p.Pro1058Thr)
 ClinVar gnomAD v4
Xg.53235017C>ACA516673791IQSEC2c.3828G>T (p.Pro1276=)
c.1453+766G>T
c.962+766G>T
c.316+1305G>T (n.316+1305G>T)
c.514+1305G>T (n.514+1305G>T)
c.*154G>T (n.*154G>T)
c.3669G>T (p.Pro1223=)
c.3639G>T (p.Pro1213=)
c.3765G>T (p.Pro1255=)
c.3054G>T (p.Pro1018=)
c.3597+766G>T (n.3597+766G>T)
c.3547+1305G>T (n.3547+1305G>T)
c.2991G>T (p.Pro997=)
c.2958G>T (p.Pro986=)
c.3171G>T (p.Pro1057=)
 gnomAD v4
Xg.53235017C=CA2429770671IQSEC2c.3828G= (p.Pro1276=)
c.1453+766G=
c.962+766G=
c.316+1305G= (n.316+1305G=)
c.514+1305G= (n.514+1305G=)
c.*154G= (n.*154G=)
c.3669G= (p.Pro1223=)
c.3639G= (p.Pro1213=)
c.3765G= (p.Pro1255=)
c.3054G= (p.Pro1018=)
c.3597+766G= (n.3597+766G=)
c.3547+1305G= (n.3547+1305G=)
c.2991G= (p.Pro997=)
c.2958G= (p.Pro986=)
c.3171G= (p.Pro1057=)
Xg.53235017C>GCA516673792IQSEC2c.3828G>C (p.Pro1276=)
c.1453+766G>C
c.962+766G>C
c.316+1305G>C (n.316+1305G>C)
c.514+1305G>C (n.514+1305G>C)
c.*154G>C (n.*154G>C)
c.3669G>C (p.Pro1223=)
c.3639G>C (p.Pro1213=)
c.3765G>C (p.Pro1255=)
c.3054G>C (p.Pro1018=)
c.3597+766G>C (n.3597+766G>C)
c.3547+1305G>C (n.3547+1305G>C)
c.2991G>C (p.Pro997=)
c.2958G>C (p.Pro986=)
c.3171G>C (p.Pro1057=)
Xg.53235017C>TCA10419781IQSEC2c.3828G>A (p.Pro1276=)
c.1453+766G>A
c.962+766G>A
c.316+1305G>A (n.316+1305G>A)
c.514+1305G>A (n.514+1305G>A)
c.*154G>A (n.*154G>A)
c.3669G>A (p.Pro1223=)
c.3639G>A (p.Pro1213=)
c.3765G>A (p.Pro1255=)
c.3054G>A (p.Pro1018=)
c.3597+766G>A (n.3597+766G>A)
c.3547+1305G>A (n.3547+1305G>A)
c.2991G>A (p.Pro997=)
c.2958G>A (p.Pro986=)
c.3171G>A (p.Pro1057=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235018G>ACA413141598IQSEC2c.3827C>T (p.Pro1276Leu)
c.1453+765C>T
c.962+765C>T
c.316+1304C>T (n.316+1304C>T)
c.514+1304C>T (n.514+1304C>T)
c.*153C>T (n.*153C>T)
c.3668C>T (p.Pro1223Leu)
c.3638C>T (p.Pro1213Leu)
c.3764C>T (p.Pro1255Leu)
c.3053C>T (p.Pro1018Leu)
c.3597+765C>T (n.3597+765C>T)
c.3547+1304C>T (n.3547+1304C>T)
c.2990C>T (p.Pro997Leu)
c.2957C>T (p.Pro986Leu)
c.3170C>T (p.Pro1057Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235018G>CCA413141595IQSEC2c.3827C>G (p.Pro1276Arg)
c.1453+765C>G
c.962+765C>G
c.316+1304C>G (n.316+1304C>G)
c.514+1304C>G (n.514+1304C>G)
c.*153C>G (n.*153C>G)
c.3668C>G (p.Pro1223Arg)
c.3638C>G (p.Pro1213Arg)
c.3764C>G (p.Pro1255Arg)
c.3053C>G (p.Pro1018Arg)
c.3597+765C>G (n.3597+765C>G)
c.3547+1304C>G (n.3547+1304C>G)
c.2990C>G (p.Pro997Arg)
c.2957C>G (p.Pro986Arg)
c.3170C>G (p.Pro1057Arg)
Xg.53235018G=CA2429770672IQSEC2c.3827C= (p.Pro1276=)
c.1453+765C=
c.962+765C=
c.316+1304C= (n.316+1304C=)
c.514+1304C= (n.514+1304C=)
c.*153C= (n.*153C=)
c.3668C= (p.Pro1223=)
c.3638C= (p.Pro1213=)
c.3764C= (p.Pro1255=)
c.3053C= (p.Pro1018=)
c.3597+765C= (n.3597+765C=)
c.3547+1304C= (n.3547+1304C=)
c.2990C= (p.Pro997=)
c.2957C= (p.Pro986=)
c.3170C= (p.Pro1057=)
Xg.53235018G>TCA413141601IQSEC2c.3827C>A (p.Pro1276Gln)
c.1453+765C>A
c.962+765C>A
c.316+1304C>A (n.316+1304C>A)
c.514+1304C>A (n.514+1304C>A)
c.*153C>A (n.*153C>A)
c.3668C>A (p.Pro1223Gln)
c.3638C>A (p.Pro1213Gln)
c.3764C>A (p.Pro1255Gln)
c.3053C>A (p.Pro1018Gln)
c.3597+765C>A (n.3597+765C>A)
c.3547+1304C>A (n.3547+1304C>A)
c.2990C>A (p.Pro997Gln)
c.2957C>A (p.Pro986Gln)
c.3170C>A (p.Pro1057Gln)
 ClinVar dbSNP
Xg.53235019G>ACA413141606IQSEC2c.3826C>T (p.Pro1276Ser)
c.1453+764C>T
c.962+764C>T
c.316+1303C>T (n.316+1303C>T)
c.514+1303C>T (n.514+1303C>T)
c.*152C>T (n.*152C>T)
c.3667C>T (p.Pro1223Ser)
c.3637C>T (p.Pro1213Ser)
c.3763C>T (p.Pro1255Ser)
c.3052C>T (p.Pro1018Ser)
c.3597+764C>T (n.3597+764C>T)
c.3547+1303C>T (n.3547+1303C>T)
c.2989C>T (p.Pro997Ser)
c.2956C>T (p.Pro986Ser)
c.3169C>T (p.Pro1057Ser)
Xg.53235019G>CCA413141609IQSEC2c.3826C>G (p.Pro1276Ala)
c.1453+764C>G
c.962+764C>G
c.316+1303C>G (n.316+1303C>G)
c.514+1303C>G (n.514+1303C>G)
c.*152C>G (n.*152C>G)
c.3667C>G (p.Pro1223Ala)
c.3637C>G (p.Pro1213Ala)
c.3763C>G (p.Pro1255Ala)
c.3052C>G (p.Pro1018Ala)
c.3597+764C>G (n.3597+764C>G)
c.3547+1303C>G (n.3547+1303C>G)
c.2989C>G (p.Pro997Ala)
c.2956C>G (p.Pro986Ala)
c.3169C>G (p.Pro1057Ala)
Xg.53235019G>TCA413141610IQSEC2c.3826C>A (p.Pro1276Thr)
c.1453+764C>A
c.962+764C>A
c.316+1303C>A (n.316+1303C>A)
c.514+1303C>A (n.514+1303C>A)
c.*152C>A (n.*152C>A)
c.3667C>A (p.Pro1223Thr)
c.3637C>A (p.Pro1213Thr)
c.3763C>A (p.Pro1255Thr)
c.3052C>A (p.Pro1018Thr)
c.3597+764C>A (n.3597+764C>A)
c.3547+1303C>A (n.3547+1303C>A)
c.2989C>A (p.Pro997Thr)
c.2956C>A (p.Pro986Thr)
c.3169C>A (p.Pro1057Thr)
Xg.53235020T>ACA516673803IQSEC2c.3825A>T (p.Pro1275=)
c.1453+763A>T
c.962+763A>T
c.316+1302A>T (n.316+1302A>T)
c.514+1302A>T (n.514+1302A>T)
c.*151A>T (n.*151A>T)
c.3666A>T (p.Pro1222=)
c.3636A>T (p.Pro1212=)
c.3762A>T (p.Pro1254=)
c.3051A>T (p.Pro1017=)
c.3597+763A>T (n.3597+763A>T)
c.3547+1302A>T (n.3547+1302A>T)
c.2988A>T (p.Pro996=)
c.2955A>T (p.Pro985=)
c.3168A>T (p.Pro1056=)
Xg.53235020T>CCA516673799IQSEC2c.3825A>G (p.Pro1275=)
c.1453+763A>G
c.962+763A>G
c.316+1302A>G (n.316+1302A>G)
c.514+1302A>G (n.514+1302A>G)
c.*151A>G (n.*151A>G)
c.3666A>G (p.Pro1222=)
c.3636A>G (p.Pro1212=)
c.3762A>G (p.Pro1254=)
c.3051A>G (p.Pro1017=)
c.3597+763A>G (n.3597+763A>G)
c.3547+1302A>G (n.3547+1302A>G)
c.2988A>G (p.Pro996=)
c.2955A>G (p.Pro985=)
c.3168A>G (p.Pro1056=)
 ClinVar dbSNP
Xg.53235020T>GCA516673801IQSEC2c.3825A>C (p.Pro1275=)
c.1453+763A>C
c.962+763A>C
c.316+1302A>C (n.316+1302A>C)
c.514+1302A>C (n.514+1302A>C)
c.*151A>C (n.*151A>C)
c.3666A>C (p.Pro1222=)
c.3636A>C (p.Pro1212=)
c.3762A>C (p.Pro1254=)
c.3051A>C (p.Pro1017=)
c.3597+763A>C (n.3597+763A>C)
c.3547+1302A>C (n.3547+1302A>C)
c.2988A>C (p.Pro996=)
c.2955A>C (p.Pro985=)
c.3168A>C (p.Pro1056=)
Xg.53235020T=CA2429770673IQSEC2c.3825A= (p.Pro1275=)
c.1453+763A=
c.962+763A=
c.316+1302A= (n.316+1302A=)
c.514+1302A= (n.514+1302A=)
c.*151A= (n.*151A=)
c.3666A= (p.Pro1222=)
c.3636A= (p.Pro1212=)
c.3762A= (p.Pro1254=)
c.3051A= (p.Pro1017=)
c.3597+763A= (n.3597+763A=)
c.3547+1302A= (n.3547+1302A=)
c.2988A= (p.Pro996=)
c.2955A= (p.Pro985=)
c.3168A= (p.Pro1056=)
Xg.53235021G>ACA413141616IQSEC2c.3824C>T (p.Pro1275Leu)
c.1453+762C>T
c.962+762C>T
c.316+1301C>T (n.316+1301C>T)
c.514+1301C>T (n.514+1301C>T)
c.*150C>T (n.*150C>T)
c.3665C>T (p.Pro1222Leu)
c.3635C>T (p.Pro1212Leu)
c.3761C>T (p.Pro1254Leu)
c.3050C>T (p.Pro1017Leu)
c.3597+762C>T (n.3597+762C>T)
c.3547+1301C>T (n.3547+1301C>T)
c.2987C>T (p.Pro996Leu)
c.2954C>T (p.Pro985Leu)
c.3167C>T (p.Pro1056Leu)
 ClinVar dbSNP
Xg.53235021G>CCA413141619IQSEC2c.3824C>G (p.Pro1275Arg)
c.1453+762C>G
c.962+762C>G
c.316+1301C>G (n.316+1301C>G)
c.514+1301C>G (n.514+1301C>G)
c.*150C>G (n.*150C>G)
c.3665C>G (p.Pro1222Arg)
c.3635C>G (p.Pro1212Arg)
c.3761C>G (p.Pro1254Arg)
c.3050C>G (p.Pro1017Arg)
c.3597+762C>G (n.3597+762C>G)
c.3547+1301C>G (n.3547+1301C>G)
c.2987C>G (p.Pro996Arg)
c.2954C>G (p.Pro985Arg)
c.3167C>G (p.Pro1056Arg)
Xg.53235021G=CA2429770674IQSEC2c.3824C= (p.Pro1275=)
c.1453+762C=
c.962+762C=
c.316+1301C= (n.316+1301C=)
c.514+1301C= (n.514+1301C=)
c.*150C= (n.*150C=)
c.3665C= (p.Pro1222=)
c.3635C= (p.Pro1212=)
c.3761C= (p.Pro1254=)
c.3050C= (p.Pro1017=)
c.3597+762C= (n.3597+762C=)
c.3547+1301C= (n.3547+1301C=)
c.2987C= (p.Pro996=)
c.2954C= (p.Pro985=)
c.3167C= (p.Pro1056=)
Xg.53235021G>TCA413141621IQSEC2c.3824C>A (p.Pro1275Gln)
c.1453+762C>A
c.962+762C>A
c.316+1301C>A (n.316+1301C>A)
c.514+1301C>A (n.514+1301C>A)
c.*150C>A (n.*150C>A)
c.3665C>A (p.Pro1222Gln)
c.3635C>A (p.Pro1212Gln)
c.3761C>A (p.Pro1254Gln)
c.3050C>A (p.Pro1017Gln)
c.3597+762C>A (n.3597+762C>A)
c.3547+1301C>A (n.3547+1301C>A)
c.2987C>A (p.Pro996Gln)
c.2954C>A (p.Pro985Gln)
c.3167C>A (p.Pro1056Gln)
Xg.53235022G>ACA413141626IQSEC2c.3823C>T (p.Pro1275Ser)
c.1453+761C>T
c.962+761C>T
c.316+1300C>T (n.316+1300C>T)
c.514+1300C>T (n.514+1300C>T)
c.*149C>T (n.*149C>T)
c.3664C>T (p.Pro1222Ser)
c.3634C>T (p.Pro1212Ser)
c.3760C>T (p.Pro1254Ser)
c.3049C>T (p.Pro1017Ser)
c.3597+761C>T (n.3597+761C>T)
c.3547+1300C>T (n.3547+1300C>T)
c.2986C>T (p.Pro996Ser)
c.2953C>T (p.Pro985Ser)
c.3166C>T (p.Pro1056Ser)
Xg.53235022G>CCA413141629IQSEC2c.3823C>G (p.Pro1275Ala)
c.1453+761C>G
c.962+761C>G
c.316+1300C>G (n.316+1300C>G)
c.514+1300C>G (n.514+1300C>G)
c.*149C>G (n.*149C>G)
c.3664C>G (p.Pro1222Ala)
c.3634C>G (p.Pro1212Ala)
c.3760C>G (p.Pro1254Ala)
c.3049C>G (p.Pro1017Ala)
c.3597+761C>G (n.3597+761C>G)
c.3547+1300C>G (n.3547+1300C>G)
c.2986C>G (p.Pro996Ala)
c.2953C>G (p.Pro985Ala)
c.3166C>G (p.Pro1056Ala)
Xg.53235022G>TCA413141632IQSEC2c.3823C>A (p.Pro1275Thr)
c.1453+761C>A
c.962+761C>A
c.316+1300C>A (n.316+1300C>A)
c.514+1300C>A (n.514+1300C>A)
c.*149C>A (n.*149C>A)
c.3664C>A (p.Pro1222Thr)
c.3634C>A (p.Pro1212Thr)
c.3760C>A (p.Pro1254Thr)
c.3049C>A (p.Pro1017Thr)
c.3597+761C>A (n.3597+761C>A)
c.3547+1300C>A (n.3547+1300C>A)
c.2986C>A (p.Pro996Thr)
c.2953C>A (p.Pro985Thr)
c.3166C>A (p.Pro1056Thr)
Xg.53235023T>ACA516673807IQSEC2c.3822A>T (p.Pro1274=)
c.1453+760A>T
c.962+760A>T
c.316+1299A>T (n.316+1299A>T)
c.514+1299A>T (n.514+1299A>T)
c.*148A>T (n.*148A>T)
c.3663A>T (p.Pro1221=)
c.3633A>T (p.Pro1211=)
c.3759A>T (p.Pro1253=)
c.3048A>T (p.Pro1016=)
c.3597+760A>T (n.3597+760A>T)
c.3547+1299A>T (n.3547+1299A>T)
c.2985A>T (p.Pro995=)
c.2952A>T (p.Pro984=)
c.3165A>T (p.Pro1055=)
Xg.53235023T>CCA206654IQSEC2c.3822A>G (p.Pro1274=)
c.1453+760A>G
c.962+760A>G
c.316+1299A>G (n.316+1299A>G)
c.514+1299A>G (n.514+1299A>G)
c.*148A>G (n.*148A>G)
c.3663A>G (p.Pro1221=)
c.3633A>G (p.Pro1211=)
c.3759A>G (p.Pro1253=)
c.3048A>G (p.Pro1016=)
c.3597+760A>G (n.3597+760A>G)
c.3547+1299A>G (n.3547+1299A>G)
c.2985A>G (p.Pro995=)
c.2952A>G (p.Pro984=)
c.3165A>G (p.Pro1055=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235023T>GCA516673810IQSEC2c.3822A>C (p.Pro1274=)
c.1453+760A>C
c.962+760A>C
c.316+1299A>C (n.316+1299A>C)
c.514+1299A>C (n.514+1299A>C)
c.*148A>C (n.*148A>C)
c.3663A>C (p.Pro1221=)
c.3633A>C (p.Pro1211=)
c.3759A>C (p.Pro1253=)
c.3048A>C (p.Pro1016=)
c.3597+760A>C (n.3597+760A>C)
c.3547+1299A>C (n.3547+1299A>C)
c.2985A>C (p.Pro995=)
c.2952A>C (p.Pro984=)
c.3165A>C (p.Pro1055=)
Xg.53235023T=CA2429770675IQSEC2c.3822A= (p.Pro1274=)
c.1453+760A=
c.962+760A=
c.316+1299A= (n.316+1299A=)
c.514+1299A= (n.514+1299A=)
c.*148A= (n.*148A=)
c.3663A= (p.Pro1221=)
c.3633A= (p.Pro1211=)
c.3759A= (p.Pro1253=)
c.3048A= (p.Pro1016=)
c.3597+760A= (n.3597+760A=)
c.3547+1299A= (n.3547+1299A=)
c.2985A= (p.Pro995=)
c.2952A= (p.Pro984=)
c.3165A= (p.Pro1055=)
Xg.53235024G>ACA413141654IQSEC2c.3821C>T (p.Pro1274Leu)
c.1453+759C>T
c.962+759C>T
c.316+1298C>T (n.316+1298C>T)
c.514+1298C>T (n.514+1298C>T)
c.*147C>T (n.*147C>T)
c.3662C>T (p.Pro1221Leu)
c.3632C>T (p.Pro1211Leu)
c.3758C>T (p.Pro1253Leu)
c.3047C>T (p.Pro1016Leu)
c.3597+759C>T (n.3597+759C>T)
c.3547+1298C>T (n.3547+1298C>T)
c.2984C>T (p.Pro995Leu)
c.2951C>T (p.Pro984Leu)
c.3164C>T (p.Pro1055Leu)
Xg.53235024G>CCA413141657IQSEC2c.3821C>G (p.Pro1274Arg)
c.1453+759C>G
c.962+759C>G
c.316+1298C>G (n.316+1298C>G)
c.514+1298C>G (n.514+1298C>G)
c.*147C>G (n.*147C>G)
c.3662C>G (p.Pro1221Arg)
c.3632C>G (p.Pro1211Arg)
c.3758C>G (p.Pro1253Arg)
c.3047C>G (p.Pro1016Arg)
c.3597+759C>G (n.3597+759C>G)
c.3547+1298C>G (n.3547+1298C>G)
c.2984C>G (p.Pro995Arg)
c.2951C>G (p.Pro984Arg)
c.3164C>G (p.Pro1055Arg)
Xg.53235024G>TCA413141660IQSEC2c.3821C>A (p.Pro1274Gln)
c.1453+759C>A
c.962+759C>A
c.316+1298C>A (n.316+1298C>A)
c.514+1298C>A (n.514+1298C>A)
c.*147C>A (n.*147C>A)
c.3662C>A (p.Pro1221Gln)
c.3632C>A (p.Pro1211Gln)
c.3758C>A (p.Pro1253Gln)
c.3047C>A (p.Pro1016Gln)
c.3597+759C>A (n.3597+759C>A)
c.3547+1298C>A (n.3547+1298C>A)
c.2984C>A (p.Pro995Gln)
c.2951C>A (p.Pro984Gln)
c.3164C>A (p.Pro1055Gln)
 ClinVar gnomAD v4
Xg.53235025G>ACA413141669IQSEC2c.3820C>T (p.Pro1274Ser)
c.1453+758C>T
c.962+758C>T
c.316+1297C>T (n.316+1297C>T)
c.514+1297C>T (n.514+1297C>T)
c.*146C>T (n.*146C>T)
c.3661C>T (p.Pro1221Ser)
c.3631C>T (p.Pro1211Ser)
c.3757C>T (p.Pro1253Ser)
c.3046C>T (p.Pro1016Ser)
c.3597+758C>T (n.3597+758C>T)
c.3547+1297C>T (n.3547+1297C>T)
c.2983C>T (p.Pro995Ser)
c.2950C>T (p.Pro984Ser)
c.3163C>T (p.Pro1055Ser)
 gnomAD v4
Xg.53235025G>CCA413141664IQSEC2c.3820C>G (p.Pro1274Ala)
c.1453+758C>G
c.962+758C>G
c.316+1297C>G (n.316+1297C>G)
c.514+1297C>G (n.514+1297C>G)
c.*146C>G (n.*146C>G)
c.3661C>G (p.Pro1221Ala)
c.3631C>G (p.Pro1211Ala)
c.3757C>G (p.Pro1253Ala)
c.3046C>G (p.Pro1016Ala)
c.3597+758C>G (n.3597+758C>G)
c.3547+1297C>G (n.3547+1297C>G)
c.2983C>G (p.Pro995Ala)
c.2950C>G (p.Pro984Ala)
c.3163C>G (p.Pro1055Ala)
Xg.53235025G>TCA413141667IQSEC2c.3820C>A (p.Pro1274Thr)
c.1453+758C>A
c.962+758C>A
c.316+1297C>A (n.316+1297C>A)
c.514+1297C>A (n.514+1297C>A)
c.*146C>A (n.*146C>A)
c.3661C>A (p.Pro1221Thr)
c.3631C>A (p.Pro1211Thr)
c.3757C>A (p.Pro1253Thr)
c.3046C>A (p.Pro1016Thr)
c.3597+758C>A (n.3597+758C>A)
c.3547+1297C>A (n.3547+1297C>A)
c.2983C>A (p.Pro995Thr)
c.2950C>A (p.Pro984Thr)
c.3163C>A (p.Pro1055Thr)
Xg.53235026C>ACA413141674IQSEC2c.3819G>T (p.Met1273Ile)
c.1453+757G>T
c.962+757G>T
c.316+1296G>T (n.316+1296G>T)
c.514+1296G>T (n.514+1296G>T)
c.*145G>T (n.*145G>T)
c.3660G>T (p.Met1220Ile)
c.3630G>T (p.Met1210Ile)
c.3756G>T (p.Met1252Ile)
c.3045G>T (p.Met1015Ile)
c.3597+757G>T (n.3597+757G>T)
c.3547+1296G>T (n.3547+1296G>T)
c.2982G>T (p.Met994Ile)
c.2949G>T (p.Met983Ile)
c.3162G>T (p.Met1054Ile)
Xg.53235026C>GCA413141677IQSEC2c.3819G>C (p.Met1273Ile)
c.1453+757G>C
c.962+757G>C
c.316+1296G>C (n.316+1296G>C)
c.514+1296G>C (n.514+1296G>C)
c.*145G>C (n.*145G>C)
c.3660G>C (p.Met1220Ile)
c.3630G>C (p.Met1210Ile)
c.3756G>C (p.Met1252Ile)
c.3045G>C (p.Met1015Ile)
c.3597+757G>C (n.3597+757G>C)
c.3547+1296G>C (n.3547+1296G>C)
c.2982G>C (p.Met994Ile)
c.2949G>C (p.Met983Ile)
c.3162G>C (p.Met1054Ile)
Xg.53235026C>TCA413141679IQSEC2c.3819G>A (p.Met1273Ile)
c.1453+757G>A
c.962+757G>A
c.316+1296G>A (n.316+1296G>A)
c.514+1296G>A (n.514+1296G>A)
c.*145G>A (n.*145G>A)
c.3660G>A (p.Met1220Ile)
c.3630G>A (p.Met1210Ile)
c.3756G>A (p.Met1252Ile)
c.3045G>A (p.Met1015Ile)
c.3597+757G>A (n.3597+757G>A)
c.3547+1296G>A (n.3547+1296G>A)
c.2982G>A (p.Met994Ile)
c.2949G>A (p.Met983Ile)
c.3162G>A (p.Met1054Ile)
Xg.53235027A>CCA413141684IQSEC2c.3818T>G (p.Met1273Arg)
c.1453+756T>G
c.962+756T>G
c.316+1295T>G (n.316+1295T>G)
c.514+1295T>G (n.514+1295T>G)
c.*144T>G (n.*144T>G)
c.3659T>G (p.Met1220Arg)
c.3629T>G (p.Met1210Arg)
c.3755T>G (p.Met1252Arg)
c.3044T>G (p.Met1015Arg)
c.3597+756T>G (n.3597+756T>G)
c.3547+1295T>G (n.3547+1295T>G)
c.2981T>G (p.Met994Arg)
c.2948T>G (p.Met983Arg)
c.3161T>G (p.Met1054Arg)
Xg.53235027A>GCA413141688IQSEC2c.3818T>C (p.Met1273Thr)
c.1453+756T>C
c.962+756T>C
c.316+1295T>C (n.316+1295T>C)
c.514+1295T>C (n.514+1295T>C)
c.*144T>C (n.*144T>C)
c.3659T>C (p.Met1220Thr)
c.3629T>C (p.Met1210Thr)
c.3755T>C (p.Met1252Thr)
c.3044T>C (p.Met1015Thr)
c.3597+756T>C (n.3597+756T>C)
c.3547+1295T>C (n.3547+1295T>C)
c.2981T>C (p.Met994Thr)
c.2948T>C (p.Met983Thr)
c.3161T>C (p.Met1054Thr)
 gnomAD v4
Xg.53235027A>TCA413141689IQSEC2c.3818T>A (p.Met1273Lys)
c.1453+756T>A
c.962+756T>A
c.316+1295T>A (n.316+1295T>A)
c.514+1295T>A (n.514+1295T>A)
c.*144T>A (n.*144T>A)
c.3659T>A (p.Met1220Lys)
c.3629T>A (p.Met1210Lys)
c.3755T>A (p.Met1252Lys)
c.3044T>A (p.Met1015Lys)
c.3597+756T>A (n.3597+756T>A)
c.3547+1295T>A (n.3547+1295T>A)
c.2981T>A (p.Met994Lys)
c.2948T>A (p.Met983Lys)
c.3161T>A (p.Met1054Lys)
Xg.53235028T>ACA413141694IQSEC2c.3817A>T (p.Met1273Leu)
c.1453+755A>T
c.962+755A>T
c.316+1294A>T (n.316+1294A>T)
c.514+1294A>T (n.514+1294A>T)
c.*143A>T (n.*143A>T)
c.3658A>T (p.Met1220Leu)
c.3628A>T (p.Met1210Leu)
c.3754A>T (p.Met1252Leu)
c.3043A>T (p.Met1015Leu)
c.3597+755A>T (n.3597+755A>T)
c.3547+1294A>T (n.3547+1294A>T)
c.2980A>T (p.Met994Leu)
c.2947A>T (p.Met983Leu)
c.3160A>T (p.Met1054Leu)
Xg.53235028T>CCA413141697IQSEC2c.3817A>G (p.Met1273Val)
c.1453+755A>G
c.962+755A>G
c.316+1294A>G (n.316+1294A>G)
c.514+1294A>G (n.514+1294A>G)
c.*143A>G (n.*143A>G)
c.3658A>G (p.Met1220Val)
c.3628A>G (p.Met1210Val)
c.3754A>G (p.Met1252Val)
c.3043A>G (p.Met1015Val)
c.3597+755A>G (n.3597+755A>G)
c.3547+1294A>G (n.3547+1294A>G)
c.2980A>G (p.Met994Val)
c.2947A>G (p.Met983Val)
c.3160A>G (p.Met1054Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235028T>GCA413141700IQSEC2c.3817A>C (p.Met1273Leu)
c.1453+755A>C
c.962+755A>C
c.316+1294A>C (n.316+1294A>C)
c.514+1294A>C (n.514+1294A>C)
c.*143A>C (n.*143A>C)
c.3658A>C (p.Met1220Leu)
c.3628A>C (p.Met1210Leu)
c.3754A>C (p.Met1252Leu)
c.3043A>C (p.Met1015Leu)
c.3597+755A>C (n.3597+755A>C)
c.3547+1294A>C (n.3547+1294A>C)
c.2980A>C (p.Met994Leu)
c.2947A>C (p.Met983Leu)
c.3160A>C (p.Met1054Leu)
Xg.53235028T=CA2429770676IQSEC2c.3817A= (p.Met1273=)
c.1453+755A=
c.962+755A=
c.316+1294A= (n.316+1294A=)
c.514+1294A= (n.514+1294A=)
c.*143A= (n.*143A=)
c.3658A= (p.Met1220=)
c.3628A= (p.Met1210=)
c.3754A= (p.Met1252=)
c.3043A= (p.Met1015=)
c.3597+755A= (n.3597+755A=)
c.3547+1294A= (n.3547+1294A=)
c.2980A= (p.Met994=)
c.2947A= (p.Met983=)
c.3160A= (p.Met1054=)
Xg.53235029C>ACA413141704IQSEC2c.3816G>T (p.Gln1272His)
c.1453+754G>T
c.962+754G>T
c.316+1293G>T (n.316+1293G>T)
c.514+1293G>T (n.514+1293G>T)
c.*142G>T (n.*142G>T)
c.3657G>T (p.Gln1219His)
c.3627G>T (p.Gln1209His)
c.3753G>T (p.Gln1251His)
c.3042G>T (p.Gln1014His)
c.3597+754G>T (n.3597+754G>T)
c.3547+1293G>T (n.3547+1293G>T)
c.2979G>T (p.Gln993His)
c.2946G>T (p.Gln982His)
c.3159G>T (p.Gln1053His)
Xg.53235029C>GCA413141706IQSEC2c.3816G>C (p.Gln1272His)
c.1453+754G>C
c.962+754G>C
c.316+1293G>C (n.316+1293G>C)
c.514+1293G>C (n.514+1293G>C)
c.*142G>C (n.*142G>C)
c.3657G>C (p.Gln1219His)
c.3627G>C (p.Gln1209His)
c.3753G>C (p.Gln1251His)
c.3042G>C (p.Gln1014His)
c.3597+754G>C (n.3597+754G>C)
c.3547+1293G>C (n.3547+1293G>C)
c.2979G>C (p.Gln993His)
c.2946G>C (p.Gln982His)
c.3159G>C (p.Gln1053His)
Xg.53235029C>TCA516673819IQSEC2c.3816G>A (p.Gln1272=)
c.1453+754G>A
c.962+754G>A
c.316+1293G>A (n.316+1293G>A)
c.514+1293G>A (n.514+1293G>A)
c.*142G>A (n.*142G>A)
c.3657G>A (p.Gln1219=)
c.3627G>A (p.Gln1209=)
c.3753G>A (p.Gln1251=)
c.3042G>A (p.Gln1014=)
c.3597+754G>A (n.3597+754G>A)
c.3547+1293G>A (n.3547+1293G>A)
c.2979G>A (p.Gln993=)
c.2946G>A (p.Gln982=)
c.3159G>A (p.Gln1053=)
 gnomAD v4
Xg.53235030T>ACA413141718IQSEC2c.3815A>T (p.Gln1272Leu)
c.1453+753A>T
c.962+753A>T
c.316+1292A>T (n.316+1292A>T)
c.514+1292A>T (n.514+1292A>T)
c.*141A>T (n.*141A>T)
c.3656A>T (p.Gln1219Leu)
c.3626A>T (p.Gln1209Leu)
c.3752A>T (p.Gln1251Leu)
c.3041A>T (p.Gln1014Leu)
c.3597+753A>T (n.3597+753A>T)
c.3547+1292A>T (n.3547+1292A>T)
c.2978A>T (p.Gln993Leu)
c.2945A>T (p.Gln982Leu)
c.3158A>T (p.Gln1053Leu)
Xg.53235030T>CCA413141715IQSEC2c.3815A>G (p.Gln1272Arg)
c.1453+753A>G
c.962+753A>G
c.316+1292A>G (n.316+1292A>G)
c.514+1292A>G (n.514+1292A>G)
c.*141A>G (n.*141A>G)
c.3656A>G (p.Gln1219Arg)
c.3626A>G (p.Gln1209Arg)
c.3752A>G (p.Gln1251Arg)
c.3041A>G (p.Gln1014Arg)
c.3597+753A>G (n.3597+753A>G)
c.3547+1292A>G (n.3547+1292A>G)
c.2978A>G (p.Gln993Arg)
c.2945A>G (p.Gln982Arg)
c.3158A>G (p.Gln1053Arg)
Xg.53235030T>GCA413141711IQSEC2c.3815A>C (p.Gln1272Pro)
c.1453+753A>C
c.962+753A>C
c.316+1292A>C (n.316+1292A>C)
c.514+1292A>C (n.514+1292A>C)
c.*141A>C (n.*141A>C)
c.3656A>C (p.Gln1219Pro)
c.3626A>C (p.Gln1209Pro)
c.3752A>C (p.Gln1251Pro)
c.3041A>C (p.Gln1014Pro)
c.3597+753A>C (n.3597+753A>C)
c.3547+1292A>C (n.3547+1292A>C)
c.2978A>C (p.Gln993Pro)
c.2945A>C (p.Gln982Pro)
c.3158A>C (p.Gln1053Pro)
Xg.53235031G>ACA413141723IQSEC2c.3814C>T (p.Gln1272Ter)
c.1453+752C>T
c.962+752C>T
c.316+1291C>T (n.316+1291C>T)
c.514+1291C>T (n.514+1291C>T)
c.*140C>T (n.*140C>T)
c.3655C>T (p.Gln1219Ter)
c.3625C>T (p.Gln1209Ter)
c.3751C>T (p.Gln1251Ter)
c.3040C>T (p.Gln1014Ter)
c.3597+752C>T (n.3597+752C>T)
c.3547+1291C>T (n.3547+1291C>T)
c.2977C>T (p.Gln993Ter)
c.2944C>T (p.Gln982Ter)
c.3157C>T (p.Gln1053Ter)
Xg.53235031G>CCA413141725IQSEC2c.3814C>G (p.Gln1272Glu)
c.1453+752C>G
c.962+752C>G
c.316+1291C>G (n.316+1291C>G)
c.514+1291C>G (n.514+1291C>G)
c.*140C>G (n.*140C>G)
c.3655C>G (p.Gln1219Glu)
c.3625C>G (p.Gln1209Glu)
c.3751C>G (p.Gln1251Glu)
c.3040C>G (p.Gln1014Glu)
c.3597+752C>G (n.3597+752C>G)
c.3547+1291C>G (n.3547+1291C>G)
c.2977C>G (p.Gln993Glu)
c.2944C>G (p.Gln982Glu)
c.3157C>G (p.Gln1053Glu)
Xg.53235031G>TCA413141727IQSEC2c.3814C>A (p.Gln1272Lys)
c.1453+752C>A
c.962+752C>A
c.316+1291C>A (n.316+1291C>A)
c.514+1291C>A (n.514+1291C>A)
c.*140C>A (n.*140C>A)
c.3655C>A (p.Gln1219Lys)
c.3625C>A (p.Gln1209Lys)
c.3751C>A (p.Gln1251Lys)
c.3040C>A (p.Gln1014Lys)
c.3597+752C>A (n.3597+752C>A)
c.3547+1291C>A (n.3547+1291C>A)
c.2977C>A (p.Gln993Lys)
c.2944C>A (p.Gln982Lys)
c.3157C>A (p.Gln1053Lys)
Xg.53235032G>ACA516673824IQSEC2c.3813C>T (p.Phe1271=)
c.1453+751C>T
c.962+751C>T
c.316+1290C>T (n.316+1290C>T)
c.514+1290C>T (n.514+1290C>T)
c.*139C>T (n.*139C>T)
c.3654C>T (p.Phe1218=)
c.3624C>T (p.Phe1208=)
c.3750C>T (p.Phe1250=)
c.3039C>T (p.Phe1013=)
c.3597+751C>T (n.3597+751C>T)
c.3547+1290C>T (n.3547+1290C>T)
c.2976C>T (p.Phe992=)
c.2943C>T (p.Phe981=)
c.3156C>T (p.Phe1052=)
 gnomAD v4
Xg.53235032G>CCA413141731IQSEC2c.3813C>G (p.Phe1271Leu)
c.1453+751C>G
c.962+751C>G
c.316+1290C>G (n.316+1290C>G)
c.514+1290C>G (n.514+1290C>G)
c.*139C>G (n.*139C>G)
c.3654C>G (p.Phe1218Leu)
c.3624C>G (p.Phe1208Leu)
c.3750C>G (p.Phe1250Leu)
c.3039C>G (p.Phe1013Leu)
c.3597+751C>G (n.3597+751C>G)
c.3547+1290C>G (n.3547+1290C>G)
c.2976C>G (p.Phe992Leu)
c.2943C>G (p.Phe981Leu)
c.3156C>G (p.Phe1052Leu)
 gnomAD v4
Xg.53235032G>TCA413141735IQSEC2c.3813C>A (p.Phe1271Leu)
c.1453+751C>A
c.962+751C>A
c.316+1290C>A (n.316+1290C>A)
c.514+1290C>A (n.514+1290C>A)
c.*139C>A (n.*139C>A)
c.3654C>A (p.Phe1218Leu)
c.3624C>A (p.Phe1208Leu)
c.3750C>A (p.Phe1250Leu)
c.3039C>A (p.Phe1013Leu)
c.3597+751C>A (n.3597+751C>A)
c.3547+1290C>A (n.3547+1290C>A)
c.2976C>A (p.Phe992Leu)
c.2943C>A (p.Phe981Leu)
c.3156C>A (p.Phe1052Leu)
Xg.53235033A>CCA413141741IQSEC2c.3812T>G (p.Phe1271Cys)
c.1453+750T>G
c.962+750T>G
c.316+1289T>G (n.316+1289T>G)
c.514+1289T>G (n.514+1289T>G)
c.*138T>G (n.*138T>G)
c.3653T>G (p.Phe1218Cys)
c.3623T>G (p.Phe1208Cys)
c.3749T>G (p.Phe1250Cys)
c.3038T>G (p.Phe1013Cys)
c.3597+750T>G (n.3597+750T>G)
c.3547+1289T>G (n.3547+1289T>G)
c.2975T>G (p.Phe992Cys)
c.2942T>G (p.Phe981Cys)
c.3155T>G (p.Phe1052Cys)
Xg.53235033A>GCA413141740IQSEC2c.3812T>C (p.Phe1271Ser)
c.1453+750T>C
c.962+750T>C
c.316+1289T>C (n.316+1289T>C)
c.514+1289T>C (n.514+1289T>C)
c.*138T>C (n.*138T>C)
c.3653T>C (p.Phe1218Ser)
c.3623T>C (p.Phe1208Ser)
c.3749T>C (p.Phe1250Ser)
c.3038T>C (p.Phe1013Ser)
c.3597+750T>C (n.3597+750T>C)
c.3547+1289T>C (n.3547+1289T>C)
c.2975T>C (p.Phe992Ser)
c.2942T>C (p.Phe981Ser)
c.3155T>C (p.Phe1052Ser)
Xg.53235033A>TCA413141738IQSEC2c.3812T>A (p.Phe1271Tyr)
c.1453+750T>A
c.962+750T>A
c.316+1289T>A (n.316+1289T>A)
c.514+1289T>A (n.514+1289T>A)
c.*138T>A (n.*138T>A)
c.3653T>A (p.Phe1218Tyr)
c.3623T>A (p.Phe1208Tyr)
c.3749T>A (p.Phe1250Tyr)
c.3038T>A (p.Phe1013Tyr)
c.3597+750T>A (n.3597+750T>A)
c.3547+1289T>A (n.3547+1289T>A)
c.2975T>A (p.Phe992Tyr)
c.2942T>A (p.Phe981Tyr)
c.3155T>A (p.Phe1052Tyr)
Xg.53235034A>CCA413141744IQSEC2c.3811T>G (p.Phe1271Val)
c.1453+749T>G
c.962+749T>G
c.316+1288T>G (n.316+1288T>G)
c.514+1288T>G (n.514+1288T>G)
c.*137T>G (n.*137T>G)
c.3652T>G (p.Phe1218Val)
c.3622T>G (p.Phe1208Val)
c.3748T>G (p.Phe1250Val)
c.3037T>G (p.Phe1013Val)
c.3597+749T>G (n.3597+749T>G)
c.3547+1288T>G (n.3547+1288T>G)
c.2974T>G (p.Phe992Val)
c.2941T>G (p.Phe981Val)
c.3154T>G (p.Phe1052Val)
Xg.53235034A>GCA413141746IQSEC2c.3811T>C (p.Phe1271Leu)
c.1453+749T>C
c.962+749T>C
c.316+1288T>C (n.316+1288T>C)
c.514+1288T>C (n.514+1288T>C)
c.*137T>C (n.*137T>C)
c.3652T>C (p.Phe1218Leu)
c.3622T>C (p.Phe1208Leu)
c.3748T>C (p.Phe1250Leu)
c.3037T>C (p.Phe1013Leu)
c.3597+749T>C (n.3597+749T>C)
c.3547+1288T>C (n.3547+1288T>C)
c.2974T>C (p.Phe992Leu)
c.2941T>C (p.Phe981Leu)
c.3154T>C (p.Phe1052Leu)
Xg.53235034A>TCA413141749IQSEC2c.3811T>A (p.Phe1271Ile)
c.1453+749T>A
c.962+749T>A
c.316+1288T>A (n.316+1288T>A)
c.514+1288T>A (n.514+1288T>A)
c.*137T>A (n.*137T>A)
c.3652T>A (p.Phe1218Ile)
c.3622T>A (p.Phe1208Ile)
c.3748T>A (p.Phe1250Ile)
c.3037T>A (p.Phe1013Ile)
c.3597+749T>A (n.3597+749T>A)
c.3547+1288T>A (n.3547+1288T>A)
c.2974T>A (p.Phe992Ile)
c.2941T>A (p.Phe981Ile)
c.3154T>A (p.Phe1052Ile)
Xg.53235035G>ACA516673831IQSEC2c.3810C>T (p.Pro1270=)
c.1453+748C>T
c.962+748C>T
c.316+1287C>T (n.316+1287C>T)
c.514+1287C>T (n.514+1287C>T)
c.*136C>T (n.*136C>T)
c.3651C>T (p.Pro1217=)
c.3621C>T (p.Pro1207=)
c.3747C>T (p.Pro1249=)
c.3036C>T (p.Pro1012=)
c.3597+748C>T (n.3597+748C>T)
c.3547+1287C>T (n.3547+1287C>T)
c.2973C>T (p.Pro991=)
c.2940C>T (p.Pro980=)
c.3153C>T (p.Pro1051=)
 COSMIC COSMIC
Xg.53235035G>CCA516673832IQSEC2c.3810C>G (p.Pro1270=)
c.1453+748C>G
c.962+748C>G
c.316+1287C>G (n.316+1287C>G)
c.514+1287C>G (n.514+1287C>G)
c.*136C>G (n.*136C>G)
c.3651C>G (p.Pro1217=)
c.3621C>G (p.Pro1207=)
c.3747C>G (p.Pro1249=)
c.3036C>G (p.Pro1012=)
c.3597+748C>G (n.3597+748C>G)
c.3547+1287C>G (n.3547+1287C>G)
c.2973C>G (p.Pro991=)
c.2940C>G (p.Pro980=)
c.3153C>G (p.Pro1051=)
Xg.53235035G>TCA516673833IQSEC2c.3810C>A (p.Pro1270=)
c.1453+748C>A
c.962+748C>A
c.316+1287C>A (n.316+1287C>A)
c.514+1287C>A (n.514+1287C>A)
c.*136C>A (n.*136C>A)
c.3651C>A (p.Pro1217=)
c.3621C>A (p.Pro1207=)
c.3747C>A (p.Pro1249=)
c.3036C>A (p.Pro1012=)
c.3597+748C>A (n.3597+748C>A)
c.3547+1287C>A (n.3547+1287C>A)
c.2973C>A (p.Pro991=)
c.2940C>A (p.Pro980=)
c.3153C>A (p.Pro1051=)
Xg.53235036G>ACA413141755IQSEC2c.3809C>T (p.Pro1270Leu)
c.1453+747C>T
c.962+747C>T
c.316+1286C>T (n.316+1286C>T)
c.514+1286C>T (n.514+1286C>T)
c.*135C>T (n.*135C>T)
c.3650C>T (p.Pro1217Leu)
c.3620C>T (p.Pro1207Leu)
c.3746C>T (p.Pro1249Leu)
c.3035C>T (p.Pro1012Leu)
c.3597+747C>T (n.3597+747C>T)
c.3547+1286C>T (n.3547+1286C>T)
c.2972C>T (p.Pro991Leu)
c.2939C>T (p.Pro980Leu)
c.3152C>T (p.Pro1051Leu)
Xg.53235036G>CCA413141759IQSEC2c.3809C>G (p.Pro1270Arg)
c.1453+747C>G
c.962+747C>G
c.316+1286C>G (n.316+1286C>G)
c.514+1286C>G (n.514+1286C>G)
c.*135C>G (n.*135C>G)
c.3650C>G (p.Pro1217Arg)
c.3620C>G (p.Pro1207Arg)
c.3746C>G (p.Pro1249Arg)
c.3035C>G (p.Pro1012Arg)
c.3597+747C>G (n.3597+747C>G)
c.3547+1286C>G (n.3547+1286C>G)
c.2972C>G (p.Pro991Arg)
c.2939C>G (p.Pro980Arg)
c.3152C>G (p.Pro1051Arg)
Xg.53235036G>TCA413141762IQSEC2c.3809C>A (p.Pro1270His)
c.1453+747C>A
c.962+747C>A
c.316+1286C>A (n.316+1286C>A)
c.514+1286C>A (n.514+1286C>A)
c.*135C>A (n.*135C>A)
c.3650C>A (p.Pro1217His)
c.3620C>A (p.Pro1207His)
c.3746C>A (p.Pro1249His)
c.3035C>A (p.Pro1012His)
c.3597+747C>A (n.3597+747C>A)
c.3547+1286C>A (n.3547+1286C>A)
c.2972C>A (p.Pro991His)
c.2939C>A (p.Pro980His)
c.3152C>A (p.Pro1051His)
Xg.53235037G>ACA413141767IQSEC2c.3808C>T (p.Pro1270Ser)
c.1453+746C>T
c.962+746C>T
c.316+1285C>T (n.316+1285C>T)
c.514+1285C>T (n.514+1285C>T)
c.*134C>T (n.*134C>T)
c.3649C>T (p.Pro1217Ser)
c.3619C>T (p.Pro1207Ser)
c.3745C>T (p.Pro1249Ser)
c.3034C>T (p.Pro1012Ser)
c.3597+746C>T (n.3597+746C>T)
c.3547+1285C>T (n.3547+1285C>T)
c.2971C>T (p.Pro991Ser)
c.2938C>T (p.Pro980Ser)
c.3151C>T (p.Pro1051Ser)
Xg.53235037G>CCA413141772IQSEC2c.3808C>G (p.Pro1270Ala)
c.1453+746C>G
c.962+746C>G
c.316+1285C>G (n.316+1285C>G)
c.514+1285C>G (n.514+1285C>G)
c.*134C>G (n.*134C>G)
c.3649C>G (p.Pro1217Ala)
c.3619C>G (p.Pro1207Ala)
c.3745C>G (p.Pro1249Ala)
c.3034C>G (p.Pro1012Ala)
c.3597+746C>G (n.3597+746C>G)
c.3547+1285C>G (n.3547+1285C>G)
c.2971C>G (p.Pro991Ala)
c.2938C>G (p.Pro980Ala)
c.3151C>G (p.Pro1051Ala)
Xg.53235037G>TCA413141770IQSEC2c.3808C>A (p.Pro1270Thr)
c.1453+746C>A
c.962+746C>A
c.316+1285C>A (n.316+1285C>A)
c.514+1285C>A (n.514+1285C>A)
c.*134C>A (n.*134C>A)
c.3649C>A (p.Pro1217Thr)
c.3619C>A (p.Pro1207Thr)
c.3745C>A (p.Pro1249Thr)
c.3034C>A (p.Pro1012Thr)
c.3597+746C>A (n.3597+746C>A)
c.3547+1285C>A (n.3547+1285C>A)
c.2971C>A (p.Pro991Thr)
c.2938C>A (p.Pro980Thr)
c.3151C>A (p.Pro1051Thr)
Xg.53235038C>ACA516673838IQSEC2c.3807G>T (p.Gly1269=)
c.1453+745G>T
c.962+745G>T
c.316+1284G>T (n.316+1284G>T)
c.514+1284G>T (n.514+1284G>T)
c.*133G>T (n.*133G>T)
c.3648G>T (p.Gly1216=)
c.3618G>T (p.Gly1206=)
c.3744G>T (p.Gly1248=)
c.3033G>T (p.Gly1011=)
c.3597+745G>T (n.3597+745G>T)
c.3547+1284G>T (n.3547+1284G>T)
c.2970G>T (p.Gly990=)
c.2937G>T (p.Gly979=)
c.3150G>T (p.Gly1050=)
Xg.53235038C>GCA516673840IQSEC2c.3807G>C (p.Gly1269=)
c.1453+745G>C
c.962+745G>C
c.316+1284G>C (n.316+1284G>C)
c.514+1284G>C (n.514+1284G>C)
c.*133G>C (n.*133G>C)
c.3648G>C (p.Gly1216=)
c.3618G>C (p.Gly1206=)
c.3744G>C (p.Gly1248=)
c.3033G>C (p.Gly1011=)
c.3597+745G>C (n.3597+745G>C)
c.3547+1284G>C (n.3547+1284G>C)
c.2970G>C (p.Gly990=)
c.2937G>C (p.Gly979=)
c.3150G>C (p.Gly1050=)
Xg.53235038C>TCA516673839IQSEC2c.3807G>A (p.Gly1269=)
c.1453+745G>A
c.962+745G>A
c.316+1284G>A (n.316+1284G>A)
c.514+1284G>A (n.514+1284G>A)
c.*133G>A (n.*133G>A)
c.3648G>A (p.Gly1216=)
c.3618G>A (p.Gly1206=)
c.3744G>A (p.Gly1248=)
c.3033G>A (p.Gly1011=)
c.3597+745G>A (n.3597+745G>A)
c.3547+1284G>A (n.3547+1284G>A)
c.2970G>A (p.Gly990=)
c.2937G>A (p.Gly979=)
c.3150G>A (p.Gly1050=)
Xg.53235039C>ACA413141774IQSEC2c.3806G>T (p.Gly1269Val)
c.1453+744G>T
c.962+744G>T
c.316+1283G>T (n.316+1283G>T)
c.514+1283G>T (n.514+1283G>T)
c.*132G>T (n.*132G>T)
c.3647G>T (p.Gly1216Val)
c.3617G>T (p.Gly1206Val)
c.3743G>T (p.Gly1248Val)
c.3032G>T (p.Gly1011Val)
c.3597+744G>T (n.3597+744G>T)
c.3547+1283G>T (n.3547+1283G>T)
c.2969G>T (p.Gly990Val)
c.2936G>T (p.Gly979Val)
c.3149G>T (p.Gly1050Val)
Xg.53235039C>GCA413141776IQSEC2c.3806G>C (p.Gly1269Ala)
c.1453+744G>C
c.962+744G>C
c.316+1283G>C (n.316+1283G>C)
c.514+1283G>C (n.514+1283G>C)
c.*132G>C (n.*132G>C)
c.3647G>C (p.Gly1216Ala)
c.3617G>C (p.Gly1206Ala)
c.3743G>C (p.Gly1248Ala)
c.3032G>C (p.Gly1011Ala)
c.3597+744G>C (n.3597+744G>C)
c.3547+1283G>C (n.3547+1283G>C)
c.2969G>C (p.Gly990Ala)
c.2936G>C (p.Gly979Ala)
c.3149G>C (p.Gly1050Ala)
Xg.53235039C>TCA413141781IQSEC2c.3806G>A (p.Gly1269Glu)
c.1453+744G>A
c.962+744G>A
c.316+1283G>A (n.316+1283G>A)
c.514+1283G>A (n.514+1283G>A)
c.*132G>A (n.*132G>A)
c.3647G>A (p.Gly1216Glu)
c.3617G>A (p.Gly1206Glu)
c.3743G>A (p.Gly1248Glu)
c.3032G>A (p.Gly1011Glu)
c.3597+744G>A (n.3597+744G>A)
c.3547+1283G>A (n.3547+1283G>A)
c.2969G>A (p.Gly990Glu)
c.2936G>A (p.Gly979Glu)
c.3149G>A (p.Gly1050Glu)
Xg.53235040C>ACA413141787IQSEC2c.3805G>T (p.Gly1269Trp)
c.1453+743G>T
c.962+743G>T
c.316+1282G>T (n.316+1282G>T)
c.514+1282G>T (n.514+1282G>T)
c.*131G>T (n.*131G>T)
c.3646G>T (p.Gly1216Trp)
c.3616G>T (p.Gly1206Trp)
c.3742G>T (p.Gly1248Trp)
c.3031G>T (p.Gly1011Trp)
c.3597+743G>T (n.3597+743G>T)
c.3547+1282G>T (n.3547+1282G>T)
c.2968G>T (p.Gly990Trp)
c.2935G>T (p.Gly979Trp)
c.3148G>T (p.Gly1050Trp)
Xg.53235040C>GCA413141789IQSEC2c.3805G>C (p.Gly1269Arg)
c.1453+743G>C
c.962+743G>C
c.316+1282G>C (n.316+1282G>C)
c.514+1282G>C (n.514+1282G>C)
c.*131G>C (n.*131G>C)
c.3646G>C (p.Gly1216Arg)
c.3616G>C (p.Gly1206Arg)
c.3742G>C (p.Gly1248Arg)
c.3031G>C (p.Gly1011Arg)
c.3597+743G>C (n.3597+743G>C)
c.3547+1282G>C (n.3547+1282G>C)
c.2968G>C (p.Gly990Arg)
c.2935G>C (p.Gly979Arg)
c.3148G>C (p.Gly1050Arg)
Xg.53235040C>TCA413141792IQSEC2c.3805G>A (p.Gly1269Arg)
c.1453+743G>A
c.962+743G>A
c.316+1282G>A (n.316+1282G>A)
c.514+1282G>A (n.514+1282G>A)
c.*131G>A (n.*131G>A)
c.3646G>A (p.Gly1216Arg)
c.3616G>A (p.Gly1206Arg)
c.3742G>A (p.Gly1248Arg)
c.3031G>A (p.Gly1011Arg)
c.3597+743G>A (n.3597+743G>A)
c.3547+1282G>A (n.3547+1282G>A)
c.2968G>A (p.Gly990Arg)
c.2935G>A (p.Gly979Arg)
c.3148G>A (p.Gly1050Arg)
Xg.53235041C>ACA413141802IQSEC2c.3804G>T (p.Lys1268Asn)
c.1453+742G>T
c.962+742G>T
c.316+1281G>T (n.316+1281G>T)
c.514+1281G>T (n.514+1281G>T)
c.*130G>T (n.*130G>T)
c.3645G>T (p.Lys1215Asn)
c.3615G>T (p.Lys1205Asn)
c.3741G>T (p.Lys1247Asn)
c.3030G>T (p.Lys1010Asn)
c.3597+742G>T (n.3597+742G>T)
c.3547+1281G>T (n.3547+1281G>T)
c.2967G>T (p.Lys989Asn)
c.2934G>T (p.Lys978Asn)
c.3147G>T (p.Lys1049Asn)
Xg.53235041C>GCA413141808IQSEC2c.3804G>C (p.Lys1268Asn)
c.1453+742G>C
c.962+742G>C
c.316+1281G>C (n.316+1281G>C)
c.514+1281G>C (n.514+1281G>C)
c.*130G>C (n.*130G>C)
c.3645G>C (p.Lys1215Asn)
c.3615G>C (p.Lys1205Asn)
c.3741G>C (p.Lys1247Asn)
c.3030G>C (p.Lys1010Asn)
c.3597+742G>C (n.3597+742G>C)
c.3547+1281G>C (n.3547+1281G>C)
c.2967G>C (p.Lys989Asn)
c.2934G>C (p.Lys978Asn)
c.3147G>C (p.Lys1049Asn)
Xg.53235041C>TCA516673847IQSEC2c.3804G>A (p.Lys1268=)
c.1453+742G>A
c.962+742G>A
c.316+1281G>A (n.316+1281G>A)
c.514+1281G>A (n.514+1281G>A)
c.*130G>A (n.*130G>A)
c.3645G>A (p.Lys1215=)
c.3615G>A (p.Lys1205=)
c.3741G>A (p.Lys1247=)
c.3030G>A (p.Lys1010=)
c.3597+742G>A (n.3597+742G>A)
c.3547+1281G>A (n.3547+1281G>A)
c.2967G>A (p.Lys989=)
c.2934G>A (p.Lys978=)
c.3147G>A (p.Lys1049=)
 COSMIC COSMIC
Xg.53235042T>ACA413141811IQSEC2c.3803A>T (p.Lys1268Met)
c.1453+741A>T
c.962+741A>T
c.316+1280A>T (n.316+1280A>T)
c.514+1280A>T (n.514+1280A>T)
c.*129A>T (n.*129A>T)
c.3644A>T (p.Lys1215Met)
c.3614A>T (p.Lys1205Met)
c.3740A>T (p.Lys1247Met)
c.3029A>T (p.Lys1010Met)
c.3597+741A>T (n.3597+741A>T)
c.3547+1280A>T (n.3547+1280A>T)
c.2966A>T (p.Lys989Met)
c.2933A>T (p.Lys978Met)
c.3146A>T (p.Lys1049Met)
Xg.53235042T>CCA413141812IQSEC2c.3803A>G (p.Lys1268Arg)
c.1453+741A>G
c.962+741A>G
c.316+1280A>G (n.316+1280A>G)
c.514+1280A>G (n.514+1280A>G)
c.*129A>G (n.*129A>G)
c.3644A>G (p.Lys1215Arg)
c.3614A>G (p.Lys1205Arg)
c.3740A>G (p.Lys1247Arg)
c.3029A>G (p.Lys1010Arg)
c.3597+741A>G (n.3597+741A>G)
c.3547+1280A>G (n.3547+1280A>G)
c.2966A>G (p.Lys989Arg)
c.2933A>G (p.Lys978Arg)
c.3146A>G (p.Lys1049Arg)
Xg.53235042T>GCA413141815IQSEC2c.3803A>C (p.Lys1268Thr)
c.1453+741A>C
c.962+741A>C
c.316+1280A>C (n.316+1280A>C)
c.514+1280A>C (n.514+1280A>C)
c.*129A>C (n.*129A>C)
c.3644A>C (p.Lys1215Thr)
c.3614A>C (p.Lys1205Thr)
c.3740A>C (p.Lys1247Thr)
c.3029A>C (p.Lys1010Thr)
c.3597+741A>C (n.3597+741A>C)
c.3547+1280A>C (n.3547+1280A>C)
c.2966A>C (p.Lys989Thr)
c.2933A>C (p.Lys978Thr)
c.3146A>C (p.Lys1049Thr)
Xg.53235043T>ACA413141819IQSEC2c.3802A>T (p.Lys1268Ter)
c.1453+740A>T
c.962+740A>T
c.316+1279A>T (n.316+1279A>T)
c.514+1279A>T (n.514+1279A>T)
c.*128A>T (n.*128A>T)
c.3643A>T (p.Lys1215Ter)
c.3613A>T (p.Lys1205Ter)
c.3739A>T (p.Lys1247Ter)
c.3028A>T (p.Lys1010Ter)
c.3597+740A>T (n.3597+740A>T)
c.3547+1279A>T (n.3547+1279A>T)
c.2965A>T (p.Lys989Ter)
c.2932A>T (p.Lys978Ter)
c.3145A>T (p.Lys1049Ter)
Xg.53235043T>CCA413141824IQSEC2c.3802A>G (p.Lys1268Glu)
c.1453+740A>G
c.962+740A>G
c.316+1279A>G (n.316+1279A>G)
c.514+1279A>G (n.514+1279A>G)
c.*128A>G (n.*128A>G)
c.3643A>G (p.Lys1215Glu)
c.3613A>G (p.Lys1205Glu)
c.3739A>G (p.Lys1247Glu)
c.3028A>G (p.Lys1010Glu)
c.3597+740A>G (n.3597+740A>G)
c.3547+1279A>G (n.3547+1279A>G)
c.2965A>G (p.Lys989Glu)
c.2932A>G (p.Lys978Glu)
c.3145A>G (p.Lys1049Glu)
Xg.53235043T>GCA413141821IQSEC2c.3802A>C (p.Lys1268Gln)
c.1453+740A>C
c.962+740A>C
c.316+1279A>C (n.316+1279A>C)
c.514+1279A>C (n.514+1279A>C)
c.*128A>C (n.*128A>C)
c.3643A>C (p.Lys1215Gln)
c.3613A>C (p.Lys1205Gln)
c.3739A>C (p.Lys1247Gln)
c.3028A>C (p.Lys1010Gln)
c.3597+740A>C (n.3597+740A>C)
c.3547+1279A>C (n.3547+1279A>C)
c.2965A>C (p.Lys989Gln)
c.2932A>C (p.Lys978Gln)
c.3145A>C (p.Lys1049Gln)
Xg.53235044G>ACA516673854IQSEC2c.3801C>T (p.Gly1267=)
c.1453+739C>T
c.962+739C>T
c.316+1278C>T (n.316+1278C>T)
c.514+1278C>T (n.514+1278C>T)
c.*127C>T (n.*127C>T)
c.3642C>T (p.Gly1214=)
c.3612C>T (p.Gly1204=)
c.3738C>T (p.Gly1246=)
c.3027C>T (p.Gly1009=)
c.3597+739C>T (n.3597+739C>T)
c.3547+1278C>T (n.3547+1278C>T)
c.2964C>T (p.Gly988=)
c.2931C>T (p.Gly977=)
c.3144C>T (p.Gly1048=)
Xg.53235044G>CCA516673856IQSEC2c.3801C>G (p.Gly1267=)
c.1453+739C>G
c.962+739C>G
c.316+1278C>G (n.316+1278C>G)
c.514+1278C>G (n.514+1278C>G)
c.*127C>G (n.*127C>G)
c.3642C>G (p.Gly1214=)
c.3612C>G (p.Gly1204=)
c.3738C>G (p.Gly1246=)
c.3027C>G (p.Gly1009=)
c.3597+739C>G (n.3597+739C>G)
c.3547+1278C>G (n.3547+1278C>G)
c.2964C>G (p.Gly988=)
c.2931C>G (p.Gly977=)
c.3144C>G (p.Gly1048=)
Xg.53235044G>TCA516673858IQSEC2c.3801C>A (p.Gly1267=)
c.1453+739C>A
c.962+739C>A
c.316+1278C>A (n.316+1278C>A)
c.514+1278C>A (n.514+1278C>A)
c.*127C>A (n.*127C>A)
c.3642C>A (p.Gly1214=)
c.3612C>A (p.Gly1204=)
c.3738C>A (p.Gly1246=)
c.3027C>A (p.Gly1009=)
c.3597+739C>A (n.3597+739C>A)
c.3547+1278C>A (n.3547+1278C>A)
c.2964C>A (p.Gly988=)
c.2931C>A (p.Gly977=)
c.3144C>A (p.Gly1048=)
 gnomAD v4
Xg.53235045C>ACA413141828IQSEC2c.3800G>T (p.Gly1267Val)
c.1453+738G>T
c.962+738G>T
c.316+1277G>T (n.316+1277G>T)
c.514+1277G>T (n.514+1277G>T)
c.*126G>T (n.*126G>T)
c.3641G>T (p.Gly1214Val)
c.3611G>T (p.Gly1204Val)
c.3737G>T (p.Gly1246Val)
c.3026G>T (p.Gly1009Val)
c.3597+738G>T (n.3597+738G>T)
c.3547+1277G>T (n.3547+1277G>T)
c.2963G>T (p.Gly988Val)
c.2930G>T (p.Gly977Val)
c.3143G>T (p.Gly1048Val)
Xg.53235045C>GCA413141834IQSEC2c.3800G>C (p.Gly1267Ala)
c.1453+738G>C
c.962+738G>C
c.316+1277G>C (n.316+1277G>C)
c.514+1277G>C (n.514+1277G>C)
c.*126G>C (n.*126G>C)
c.3641G>C (p.Gly1214Ala)
c.3611G>C (p.Gly1204Ala)
c.3737G>C (p.Gly1246Ala)
c.3026G>C (p.Gly1009Ala)
c.3597+738G>C (n.3597+738G>C)
c.3547+1277G>C (n.3547+1277G>C)
c.2963G>C (p.Gly988Ala)
c.2930G>C (p.Gly977Ala)
c.3143G>C (p.Gly1048Ala)
Xg.53235045C>TCA413141831IQSEC2c.3800G>A (p.Gly1267Asp)
c.1453+738G>A
c.962+738G>A
c.316+1277G>A (n.316+1277G>A)
c.514+1277G>A (n.514+1277G>A)
c.*126G>A (n.*126G>A)
c.3641G>A (p.Gly1214Asp)
c.3611G>A (p.Gly1204Asp)
c.3737G>A (p.Gly1246Asp)
c.3026G>A (p.Gly1009Asp)
c.3597+738G>A (n.3597+738G>A)
c.3547+1277G>A (n.3547+1277G>A)
c.2963G>A (p.Gly988Asp)
c.2930G>A (p.Gly977Asp)
c.3143G>A (p.Gly1048Asp)
Xg.53235046C>ACA413141841IQSEC2c.3799G>T (p.Gly1267Cys)
c.1453+737G>T
c.962+737G>T
c.316+1276G>T (n.316+1276G>T)
c.514+1276G>T (n.514+1276G>T)
c.*125G>T (n.*125G>T)
c.3640G>T (p.Gly1214Cys)
c.3610G>T (p.Gly1204Cys)
c.3736G>T (p.Gly1246Cys)
c.3025G>T (p.Gly1009Cys)
c.3597+737G>T (n.3597+737G>T)
c.3547+1276G>T (n.3547+1276G>T)
c.2962G>T (p.Gly988Cys)
c.2929G>T (p.Gly977Cys)
c.3142G>T (p.Gly1048Cys)
Xg.53235046C=CA2429770677IQSEC2c.3799G= (p.Gly1267=)
c.1453+737G=
c.962+737G=
c.316+1276G= (n.316+1276G=)
c.514+1276G= (n.514+1276G=)
c.*125G= (n.*125G=)
c.3640G= (p.Gly1214=)
c.3610G= (p.Gly1204=)
c.3736G= (p.Gly1246=)
c.3025G= (p.Gly1009=)
c.3597+737G= (n.3597+737G=)
c.3547+1276G= (n.3547+1276G=)
c.2962G= (p.Gly988=)
c.2929G= (p.Gly977=)
c.3142G= (p.Gly1048=)
Xg.53235046C>GCA413141847IQSEC2c.3799G>C (p.Gly1267Arg)
c.1453+737G>C
c.962+737G>C
c.316+1276G>C (n.316+1276G>C)
c.514+1276G>C (n.514+1276G>C)
c.*125G>C (n.*125G>C)
c.3640G>C (p.Gly1214Arg)
c.3610G>C (p.Gly1204Arg)
c.3736G>C (p.Gly1246Arg)
c.3025G>C (p.Gly1009Arg)
c.3597+737G>C (n.3597+737G>C)
c.3547+1276G>C (n.3547+1276G>C)
c.2962G>C (p.Gly988Arg)
c.2929G>C (p.Gly977Arg)
c.3142G>C (p.Gly1048Arg)
 dbSNP gnomAD v2
Xg.53235046C>TCA413141844IQSEC2c.3799G>A (p.Gly1267Ser)
c.1453+737G>A
c.962+737G>A
c.316+1276G>A (n.316+1276G>A)
c.514+1276G>A (n.514+1276G>A)
c.*125G>A (n.*125G>A)
c.3640G>A (p.Gly1214Ser)
c.3610G>A (p.Gly1204Ser)
c.3736G>A (p.Gly1246Ser)
c.3025G>A (p.Gly1009Ser)
c.3597+737G>A (n.3597+737G>A)
c.3547+1276G>A (n.3547+1276G>A)
c.2962G>A (p.Gly988Ser)
c.2929G>A (p.Gly977Ser)
c.3142G>A (p.Gly1048Ser)
 ClinVar dbSNP gnomAD v4
Xg.53235047C>ACA516673860IQSEC2c.3798G>T (p.Arg1266=)
c.1453+736G>T
c.962+736G>T
c.316+1275G>T (n.316+1275G>T)
c.514+1275G>T (n.514+1275G>T)
c.*124G>T (n.*124G>T)
c.3639G>T (p.Arg1213=)
c.3609G>T (p.Arg1203=)
c.3735G>T (p.Arg1245=)
c.3024G>T (p.Arg1008=)
c.3597+736G>T (n.3597+736G>T)
c.3547+1275G>T (n.3547+1275G>T)
c.2961G>T (p.Arg987=)
c.2928G>T (p.Arg976=)
c.3141G>T (p.Arg1047=)
Xg.53235047C=CA2429770678IQSEC2c.3798G= (p.Arg1266=)
c.1453+736G=
c.962+736G=
c.316+1275G= (n.316+1275G=)
c.514+1275G= (n.514+1275G=)
c.*124G= (n.*124G=)
c.3639G= (p.Arg1213=)
c.3609G= (p.Arg1203=)
c.3735G= (p.Arg1245=)
c.3024G= (p.Arg1008=)
c.3597+736G= (n.3597+736G=)
c.3547+1275G= (n.3547+1275G=)
c.2961G= (p.Arg987=)
c.2928G= (p.Arg976=)
c.3141G= (p.Arg1047=)
Xg.53235047C>GCA516673861IQSEC2c.3798G>C (p.Arg1266=)
c.1453+736G>C
c.962+736G>C
c.316+1275G>C (n.316+1275G>C)
c.514+1275G>C (n.514+1275G>C)
c.*124G>C (n.*124G>C)
c.3639G>C (p.Arg1213=)
c.3609G>C (p.Arg1203=)
c.3735G>C (p.Arg1245=)
c.3024G>C (p.Arg1008=)
c.3597+736G>C (n.3597+736G>C)
c.3547+1275G>C (n.3547+1275G>C)
c.2961G>C (p.Arg987=)
c.2928G>C (p.Arg976=)
c.3141G>C (p.Arg1047=)
Xg.53235047C>TCA516673863IQSEC2c.3798G>A (p.Arg1266=)
c.1453+736G>A
c.962+736G>A
c.316+1275G>A (n.316+1275G>A)
c.514+1275G>A (n.514+1275G>A)
c.*124G>A (n.*124G>A)
c.3639G>A (p.Arg1213=)
c.3609G>A (p.Arg1203=)
c.3735G>A (p.Arg1245=)
c.3024G>A (p.Arg1008=)
c.3597+736G>A (n.3597+736G>A)
c.3547+1275G>A (n.3547+1275G>A)
c.2961G>A (p.Arg987=)
c.2928G>A (p.Arg976=)
c.3141G>A (p.Arg1047=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53235048C>ACA413141851IQSEC2c.3797G>T (p.Arg1266Leu)
c.1453+735G>T
c.962+735G>T
c.316+1274G>T (n.316+1274G>T)
c.514+1274G>T (n.514+1274G>T)
c.*123G>T (n.*123G>T)
c.3638G>T (p.Arg1213Leu)
c.3608G>T (p.Arg1203Leu)
c.3734G>T (p.Arg1245Leu)
c.3023G>T (p.Arg1008Leu)
c.3597+735G>T (n.3597+735G>T)
c.3547+1274G>T (n.3547+1274G>T)
c.2960G>T (p.Arg987Leu)
c.2927G>T (p.Arg976Leu)
c.3140G>T (p.Arg1047Leu)
Xg.53235048C=CA2429770679IQSEC2c.3797G= (p.Arg1266=)
c.1453+735G=
c.962+735G=
c.316+1274G= (n.316+1274G=)
c.514+1274G= (n.514+1274G=)
c.*123G= (n.*123G=)
c.3638G= (p.Arg1213=)
c.3608G= (p.Arg1203=)
c.3734G= (p.Arg1245=)
c.3023G= (p.Arg1008=)
c.3597+735G= (n.3597+735G=)
c.3547+1274G= (n.3547+1274G=)
c.2960G= (p.Arg987=)
c.2927G= (p.Arg976=)
c.3140G= (p.Arg1047=)
Xg.53235048C>GCA413141855IQSEC2c.3797G>C (p.Arg1266Pro)
c.1453+735G>C
c.962+735G>C
c.316+1274G>C (n.316+1274G>C)
c.514+1274G>C (n.514+1274G>C)
c.*123G>C (n.*123G>C)
c.3638G>C (p.Arg1213Pro)
c.3608G>C (p.Arg1203Pro)
c.3734G>C (p.Arg1245Pro)
c.3023G>C (p.Arg1008Pro)
c.3597+735G>C (n.3597+735G>C)
c.3547+1274G>C (n.3547+1274G>C)
c.2960G>C (p.Arg987Pro)
c.2927G>C (p.Arg976Pro)
c.3140G>C (p.Arg1047Pro)
 ClinVar dbSNP
Xg.53235048C>TCA413141858IQSEC2c.3797G>A (p.Arg1266Gln)
c.1453+735G>A
c.962+735G>A
c.316+1274G>A (n.316+1274G>A)
c.514+1274G>A (n.514+1274G>A)
c.*123G>A (n.*123G>A)
c.3638G>A (p.Arg1213Gln)
c.3608G>A (p.Arg1203Gln)
c.3734G>A (p.Arg1245Gln)
c.3023G>A (p.Arg1008Gln)
c.3597+735G>A (n.3597+735G>A)
c.3547+1274G>A (n.3547+1274G>A)
c.2960G>A (p.Arg987Gln)
c.2927G>A (p.Arg976Gln)
c.3140G>A (p.Arg1047Gln)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235049G>ACA413141862IQSEC2c.3796C>T (p.Arg1266Trp)
c.1453+734C>T
c.962+734C>T
c.316+1273C>T (n.316+1273C>T)
c.514+1273C>T (n.514+1273C>T)
c.*122C>T (n.*122C>T)
c.3637C>T (p.Arg1213Trp)
c.3607C>T (p.Arg1203Trp)
c.3733C>T (p.Arg1245Trp)
c.3022C>T (p.Arg1008Trp)
c.3597+734C>T (n.3597+734C>T)
c.3547+1273C>T (n.3547+1273C>T)
c.2959C>T (p.Arg987Trp)
c.2926C>T (p.Arg976Trp)
c.3139C>T (p.Arg1047Trp)
 dbSNP gnomAD v4
Xg.53235049G>CCA413141865IQSEC2c.3796C>G (p.Arg1266Gly)
c.1453+734C>G
c.962+734C>G
c.316+1273C>G (n.316+1273C>G)
c.514+1273C>G (n.514+1273C>G)
c.*122C>G (n.*122C>G)
c.3637C>G (p.Arg1213Gly)
c.3607C>G (p.Arg1203Gly)
c.3733C>G (p.Arg1245Gly)
c.3022C>G (p.Arg1008Gly)
c.3597+734C>G (n.3597+734C>G)
c.3547+1273C>G (n.3547+1273C>G)
c.2959C>G (p.Arg987Gly)
c.2926C>G (p.Arg976Gly)
c.3139C>G (p.Arg1047Gly)
Xg.53235049G=CA2429770680IQSEC2c.3796C= (p.Arg1266=)
c.1453+734C=
c.962+734C=
c.316+1273C= (n.316+1273C=)
c.514+1273C= (n.514+1273C=)
c.*122C= (n.*122C=)
c.3637C= (p.Arg1213=)
c.3607C= (p.Arg1203=)
c.3733C= (p.Arg1245=)
c.3022C= (p.Arg1008=)
c.3597+734C= (n.3597+734C=)
c.3547+1273C= (n.3547+1273C=)
c.2959C= (p.Arg987=)
c.2926C= (p.Arg976=)
c.3139C= (p.Arg1047=)
Xg.53235049G>TCA516673868IQSEC2c.3796C>A (p.Arg1266=)
c.1453+734C>A
c.962+734C>A
c.316+1273C>A (n.316+1273C>A)
c.514+1273C>A (n.514+1273C>A)
c.*122C>A (n.*122C>A)
c.3637C>A (p.Arg1213=)
c.3607C>A (p.Arg1203=)
c.3733C>A (p.Arg1245=)
c.3022C>A (p.Arg1008=)
c.3597+734C>A (n.3597+734C>A)
c.3547+1273C>A (n.3547+1273C>A)
c.2959C>A (p.Arg987=)
c.2926C>A (p.Arg976=)
c.3139C>A (p.Arg1047=)
 COSMIC COSMIC
Xg.53235050C>ACA413141869IQSEC2c.3795G>T (p.Lys1265Asn)
c.1453+733G>T
c.962+733G>T
c.316+1272G>T (n.316+1272G>T)
c.514+1272G>T (n.514+1272G>T)
c.*121G>T (n.*121G>T)
c.3636G>T (p.Lys1212Asn)
c.3606G>T (p.Lys1202Asn)
c.3732G>T (p.Lys1244Asn)
c.3021G>T (p.Lys1007Asn)
c.3597+733G>T (n.3597+733G>T)
c.3547+1272G>T (n.3547+1272G>T)
c.2958G>T (p.Lys986Asn)
c.2925G>T (p.Lys975Asn)
c.3138G>T (p.Lys1046Asn)
Xg.53235050C=CA2429770681IQSEC2c.3795G= (p.Lys1265=)
c.1453+733G=
c.962+733G=
c.316+1272G= (n.316+1272G=)
c.514+1272G= (n.514+1272G=)
c.*121G= (n.*121G=)
c.3636G= (p.Lys1212=)
c.3606G= (p.Lys1202=)
c.3732G= (p.Lys1244=)
c.3021G= (p.Lys1007=)
c.3597+733G= (n.3597+733G=)
c.3547+1272G= (n.3547+1272G=)
c.2958G= (p.Lys986=)
c.2925G= (p.Lys975=)
c.3138G= (p.Lys1046=)
Xg.53235050C>GCA413141872IQSEC2c.3795G>C (p.Lys1265Asn)
c.1453+733G>C
c.962+733G>C
c.316+1272G>C (n.316+1272G>C)
c.514+1272G>C (n.514+1272G>C)
c.*121G>C (n.*121G>C)
c.3636G>C (p.Lys1212Asn)
c.3606G>C (p.Lys1202Asn)
c.3732G>C (p.Lys1244Asn)
c.3021G>C (p.Lys1007Asn)
c.3597+733G>C (n.3597+733G>C)
c.3547+1272G>C (n.3547+1272G>C)
c.2958G>C (p.Lys986Asn)
c.2925G>C (p.Lys975Asn)
c.3138G>C (p.Lys1046Asn)
Xg.53235050C>TCA516673870IQSEC2c.3795G>A (p.Lys1265=)
c.1453+733G>A
c.962+733G>A
c.316+1272G>A (n.316+1272G>A)
c.514+1272G>A (n.514+1272G>A)
c.*121G>A (n.*121G>A)
c.3636G>A (p.Lys1212=)
c.3606G>A (p.Lys1202=)
c.3732G>A (p.Lys1244=)
c.3021G>A (p.Lys1007=)
c.3597+733G>A (n.3597+733G>A)
c.3547+1272G>A (n.3547+1272G>A)
c.2958G>A (p.Lys986=)
c.2925G>A (p.Lys975=)
c.3138G>A (p.Lys1046=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235051T>ACA413141876IQSEC2c.3794A>T (p.Lys1265Met)
c.1453+732A>T
c.962+732A>T
c.316+1271A>T (n.316+1271A>T)
c.514+1271A>T (n.514+1271A>T)
c.*120A>T (n.*120A>T)
c.3635A>T (p.Lys1212Met)
c.3605A>T (p.Lys1202Met)
c.3731A>T (p.Lys1244Met)
c.3020A>T (p.Lys1007Met)
c.3597+732A>T (n.3597+732A>T)
c.3547+1271A>T (n.3547+1271A>T)
c.2957A>T (p.Lys986Met)
c.2924A>T (p.Lys975Met)
c.3137A>T (p.Lys1046Met)
Xg.53235051T>CCA10419782IQSEC2c.3794A>G (p.Lys1265Arg)
c.1453+732A>G
c.962+732A>G
c.316+1271A>G (n.316+1271A>G)
c.514+1271A>G (n.514+1271A>G)
c.*120A>G (n.*120A>G)
c.3635A>G (p.Lys1212Arg)
c.3605A>G (p.Lys1202Arg)
c.3731A>G (p.Lys1244Arg)
c.3020A>G (p.Lys1007Arg)
c.3597+732A>G (n.3597+732A>G)
c.3547+1271A>G (n.3547+1271A>G)
c.2957A>G (p.Lys986Arg)
c.2924A>G (p.Lys975Arg)
c.3137A>G (p.Lys1046Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53235051T>GCA413141882IQSEC2c.3794A>C (p.Lys1265Thr)
c.1453+732A>C
c.962+732A>C
c.316+1271A>C (n.316+1271A>C)
c.514+1271A>C (n.514+1271A>C)
c.*120A>C (n.*120A>C)
c.3635A>C (p.Lys1212Thr)
c.3605A>C (p.Lys1202Thr)
c.3731A>C (p.Lys1244Thr)
c.3020A>C (p.Lys1007Thr)
c.3597+732A>C (n.3597+732A>C)
c.3547+1271A>C (n.3547+1271A>C)
c.2957A>C (p.Lys986Thr)
c.2924A>C (p.Lys975Thr)
c.3137A>C (p.Lys1046Thr)
Xg.53235051T=CA2429770682IQSEC2c.3794A= (p.Lys1265=)
c.1453+732A=
c.962+732A=
c.316+1271A= (n.316+1271A=)
c.514+1271A= (n.514+1271A=)
c.*120A= (n.*120A=)
c.3635A= (p.Lys1212=)
c.3605A= (p.Lys1202=)
c.3731A= (p.Lys1244=)
c.3020A= (p.Lys1007=)
c.3597+732A= (n.3597+732A=)
c.3547+1271A= (n.3547+1271A=)
c.2957A= (p.Lys986=)
c.2924A= (p.Lys975=)
c.3137A= (p.Lys1046=)
Xg.53235052T>ACA413141892IQSEC2c.3793A>T (p.Lys1265Ter)
c.1453+731A>T
c.962+731A>T
c.316+1270A>T (n.316+1270A>T)
c.514+1270A>T (n.514+1270A>T)
c.*119A>T (n.*119A>T)
c.3634A>T (p.Lys1212Ter)
c.3604A>T (p.Lys1202Ter)
c.3730A>T (p.Lys1244Ter)
c.3019A>T (p.Lys1007Ter)
c.3597+731A>T (n.3597+731A>T)
c.3547+1270A>T (n.3547+1270A>T)
c.2956A>T (p.Lys986Ter)
c.2923A>T (p.Lys975Ter)
c.3136A>T (p.Lys1046Ter)
Xg.53235052T>CCA413141889IQSEC2c.3793A>G (p.Lys1265Glu)
c.1453+731A>G
c.962+731A>G
c.316+1270A>G (n.316+1270A>G)
c.514+1270A>G (n.514+1270A>G)
c.*119A>G (n.*119A>G)
c.3634A>G (p.Lys1212Glu)
c.3604A>G (p.Lys1202Glu)
c.3730A>G (p.Lys1244Glu)
c.3019A>G (p.Lys1007Glu)
c.3597+731A>G (n.3597+731A>G)
c.3547+1270A>G (n.3547+1270A>G)
c.2956A>G (p.Lys986Glu)
c.2923A>G (p.Lys975Glu)
c.3136A>G (p.Lys1046Glu)
Xg.53235052T>GCA413141887IQSEC2c.3793A>C (p.Lys1265Gln)
c.1453+731A>C
c.962+731A>C
c.316+1270A>C (n.316+1270A>C)
c.514+1270A>C (n.514+1270A>C)
c.*119A>C (n.*119A>C)
c.3634A>C (p.Lys1212Gln)
c.3604A>C (p.Lys1202Gln)
c.3730A>C (p.Lys1244Gln)
c.3019A>C (p.Lys1007Gln)
c.3597+731A>C (n.3597+731A>C)
c.3547+1270A>C (n.3547+1270A>C)
c.2956A>C (p.Lys986Gln)
c.2923A>C (p.Lys975Gln)
c.3136A>C (p.Lys1046Gln)
Xg.53235053G>ACA516673874IQSEC2c.3792C>T (p.Ser1264=)
c.1453+730C>T
c.962+730C>T
c.316+1269C>T (n.316+1269C>T)
c.514+1269C>T (n.514+1269C>T)
c.*118C>T (n.*118C>T)
c.3633C>T (p.Ser1211=)
c.3603C>T (p.Ser1201=)
c.3729C>T (p.Ser1243=)
c.3018C>T (p.Ser1006=)
c.3597+730C>T (n.3597+730C>T)
c.3547+1269C>T (n.3547+1269C>T)
c.2955C>T (p.Ser985=)
c.2922C>T (p.Ser974=)
c.3135C>T (p.Ser1045=)
Xg.53235053G>CCA413141893IQSEC2c.3792C>G (p.Ser1264Arg)
c.1453+730C>G
c.962+730C>G
c.316+1269C>G (n.316+1269C>G)
c.514+1269C>G (n.514+1269C>G)
c.*118C>G (n.*118C>G)
c.3633C>G (p.Ser1211Arg)
c.3603C>G (p.Ser1201Arg)
c.3729C>G (p.Ser1243Arg)
c.3018C>G (p.Ser1006Arg)
c.3597+730C>G (n.3597+730C>G)
c.3547+1269C>G (n.3547+1269C>G)
c.2955C>G (p.Ser985Arg)
c.2922C>G (p.Ser974Arg)
c.3135C>G (p.Ser1045Arg)
Xg.53235053G>TCA413141897IQSEC2c.3792C>A (p.Ser1264Arg)
c.1453+730C>A
c.962+730C>A
c.316+1269C>A (n.316+1269C>A)
c.514+1269C>A (n.514+1269C>A)
c.*118C>A (n.*118C>A)
c.3633C>A (p.Ser1211Arg)
c.3603C>A (p.Ser1201Arg)
c.3729C>A (p.Ser1243Arg)
c.3018C>A (p.Ser1006Arg)
c.3597+730C>A (n.3597+730C>A)
c.3547+1269C>A (n.3547+1269C>A)
c.2955C>A (p.Ser985Arg)
c.2922C>A (p.Ser974Arg)
c.3135C>A (p.Ser1045Arg)
Xg.53235054C>ACA413141901IQSEC2c.3791G>T (p.Ser1264Ile)
c.1453+729G>T
c.962+729G>T
c.316+1268G>T (n.316+1268G>T)
c.514+1268G>T (n.514+1268G>T)
c.*117G>T (n.*117G>T)
c.3632G>T (p.Ser1211Ile)
c.3602G>T (p.Ser1201Ile)
c.3728G>T (p.Ser1243Ile)
c.3017G>T (p.Ser1006Ile)
c.3597+729G>T (n.3597+729G>T)
c.3547+1268G>T (n.3547+1268G>T)
c.2954G>T (p.Ser985Ile)
c.2921G>T (p.Ser974Ile)
c.3134G>T (p.Ser1045Ile)
Xg.53235054C>GCA413141904IQSEC2c.3791G>C (p.Ser1264Thr)
c.1453+729G>C
c.962+729G>C
c.316+1268G>C (n.316+1268G>C)
c.514+1268G>C (n.514+1268G>C)
c.*117G>C (n.*117G>C)
c.3632G>C (p.Ser1211Thr)
c.3602G>C (p.Ser1201Thr)
c.3728G>C (p.Ser1243Thr)
c.3017G>C (p.Ser1006Thr)
c.3597+729G>C (n.3597+729G>C)
c.3547+1268G>C (n.3547+1268G>C)
c.2954G>C (p.Ser985Thr)
c.2921G>C (p.Ser974Thr)
c.3134G>C (p.Ser1045Thr)
Xg.53235054C>TCA413141908IQSEC2c.3791G>A (p.Ser1264Asn)
c.1453+729G>A
c.962+729G>A
c.316+1268G>A (n.316+1268G>A)
c.514+1268G>A (n.514+1268G>A)
c.*117G>A (n.*117G>A)
c.3632G>A (p.Ser1211Asn)
c.3602G>A (p.Ser1201Asn)
c.3728G>A (p.Ser1243Asn)
c.3017G>A (p.Ser1006Asn)
c.3597+729G>A (n.3597+729G>A)
c.3547+1268G>A (n.3547+1268G>A)
c.2954G>A (p.Ser985Asn)
c.2921G>A (p.Ser974Asn)
c.3134G>A (p.Ser1045Asn)
Xg.53235055T>ACA413141911IQSEC2c.3790A>T (p.Ser1264Cys)
c.1453+728A>T
c.962+728A>T
c.316+1267A>T (n.316+1267A>T)
c.514+1267A>T (n.514+1267A>T)
c.*116A>T (n.*116A>T)
c.3631A>T (p.Ser1211Cys)
c.3601A>T (p.Ser1201Cys)
c.3727A>T (p.Ser1243Cys)
c.3016A>T (p.Ser1006Cys)
c.3597+728A>T (n.3597+728A>T)
c.3547+1267A>T (n.3547+1267A>T)
c.2953A>T (p.Ser985Cys)
c.2920A>T (p.Ser974Cys)
c.3133A>T (p.Ser1045Cys)
Xg.53235055T>CCA413141914IQSEC2c.3790A>G (p.Ser1264Gly)
c.1453+728A>G
c.962+728A>G
c.316+1267A>G (n.316+1267A>G)
c.514+1267A>G (n.514+1267A>G)
c.*116A>G (n.*116A>G)
c.3631A>G (p.Ser1211Gly)
c.3601A>G (p.Ser1201Gly)
c.3727A>G (p.Ser1243Gly)
c.3016A>G (p.Ser1006Gly)
c.3597+728A>G (n.3597+728A>G)
c.3547+1267A>G (n.3547+1267A>G)
c.2953A>G (p.Ser985Gly)
c.2920A>G (p.Ser974Gly)
c.3133A>G (p.Ser1045Gly)
 gnomAD v3 gnomAD v4
Xg.53235055T>GCA413141917IQSEC2c.3790A>C (p.Ser1264Arg)
c.1453+728A>C
c.962+728A>C
c.316+1267A>C (n.316+1267A>C)
c.514+1267A>C (n.514+1267A>C)
c.*116A>C (n.*116A>C)
c.3631A>C (p.Ser1211Arg)
c.3601A>C (p.Ser1201Arg)
c.3727A>C (p.Ser1243Arg)
c.3016A>C (p.Ser1006Arg)
c.3597+728A>C (n.3597+728A>C)
c.3547+1267A>C (n.3547+1267A>C)
c.2953A>C (p.Ser985Arg)
c.2920A>C (p.Ser974Arg)
c.3133A>C (p.Ser1045Arg)
Xg.53235056T>ACA516673878IQSEC2c.3789A>T (p.Gly1263=)
c.1453+727A>T
c.962+727A>T
c.316+1266A>T (n.316+1266A>T)
c.514+1266A>T (n.514+1266A>T)
c.*115A>T (n.*115A>T)
c.3630A>T (p.Gly1210=)
c.3600A>T (p.Gly1200=)
c.3726A>T (p.Gly1242=)
c.3015A>T (p.Gly1005=)
c.3597+727A>T (n.3597+727A>T)
c.3547+1266A>T (n.3547+1266A>T)
c.2952A>T (p.Gly984=)
c.2919A>T (p.Gly973=)
c.3132A>T (p.Gly1044=)
Xg.53235056T>CCA516673879IQSEC2c.3789A>G (p.Gly1263=)
c.1453+727A>G
c.962+727A>G
c.316+1266A>G (n.316+1266A>G)
c.514+1266A>G (n.514+1266A>G)
c.*115A>G (n.*115A>G)
c.3630A>G (p.Gly1210=)
c.3600A>G (p.Gly1200=)
c.3726A>G (p.Gly1242=)
c.3015A>G (p.Gly1005=)
c.3597+727A>G (n.3597+727A>G)
c.3547+1266A>G (n.3547+1266A>G)
c.2952A>G (p.Gly984=)
c.2919A>G (p.Gly973=)
c.3132A>G (p.Gly1044=)
Xg.53235056T>GCA516673880IQSEC2c.3789A>C (p.Gly1263=)
c.1453+727A>C
c.962+727A>C
c.316+1266A>C (n.316+1266A>C)
c.514+1266A>C (n.514+1266A>C)
c.*115A>C (n.*115A>C)
c.3630A>C (p.Gly1210=)
c.3600A>C (p.Gly1200=)
c.3726A>C (p.Gly1242=)
c.3015A>C (p.Gly1005=)
c.3597+727A>C (n.3597+727A>C)
c.3547+1266A>C (n.3547+1266A>C)
c.2952A>C (p.Gly984=)
c.2919A>C (p.Gly973=)
c.3132A>C (p.Gly1044=)
Xg.53235057C>ACA413141919IQSEC2c.3788G>T (p.Gly1263Val)
c.1453+726G>T
c.962+726G>T
c.316+1265G>T (n.316+1265G>T)
c.514+1265G>T (n.514+1265G>T)
c.*114G>T (n.*114G>T)
c.3629G>T (p.Gly1210Val)
c.3599G>T (p.Gly1200Val)
c.3725G>T (p.Gly1242Val)
c.3014G>T (p.Gly1005Val)
c.3597+726G>T (n.3597+726G>T)
c.3547+1265G>T (n.3547+1265G>T)
c.2951G>T (p.Gly984Val)
c.2918G>T (p.Gly973Val)
c.3131G>T (p.Gly1044Val)
Xg.53235057C>GCA413141922IQSEC2c.3788G>C (p.Gly1263Ala)
c.1453+726G>C
c.962+726G>C
c.316+1265G>C (n.316+1265G>C)
c.514+1265G>C (n.514+1265G>C)
c.*114G>C (n.*114G>C)
c.3629G>C (p.Gly1210Ala)
c.3599G>C (p.Gly1200Ala)
c.3725G>C (p.Gly1242Ala)
c.3014G>C (p.Gly1005Ala)
c.3597+726G>C (n.3597+726G>C)
c.3547+1265G>C (n.3547+1265G>C)
c.2951G>C (p.Gly984Ala)
c.2918G>C (p.Gly973Ala)
c.3131G>C (p.Gly1044Ala)
Xg.53235057C>TCA413141926IQSEC2c.3788G>A (p.Gly1263Glu)
c.1453+726G>A
c.962+726G>A
c.316+1265G>A (n.316+1265G>A)
c.514+1265G>A (n.514+1265G>A)
c.*114G>A (n.*114G>A)
c.3629G>A (p.Gly1210Glu)
c.3599G>A (p.Gly1200Glu)
c.3725G>A (p.Gly1242Glu)
c.3014G>A (p.Gly1005Glu)
c.3597+726G>A (n.3597+726G>A)
c.3547+1265G>A (n.3547+1265G>A)
c.2951G>A (p.Gly984Glu)
c.2918G>A (p.Gly973Glu)
c.3131G>A (p.Gly1044Glu)
Xg.53235058C>ACA413141933IQSEC2c.3787G>T (p.Gly1263Ter)
c.1453+725G>T
c.962+725G>T
c.316+1264G>T (n.316+1264G>T)
c.514+1264G>T (n.514+1264G>T)
c.*113G>T (n.*113G>T)
c.3628G>T (p.Gly1210Ter)
c.3598G>T (p.Gly1200Ter)
c.3724G>T (p.Gly1242Ter)
c.3013G>T (p.Gly1005Ter)
c.3597+725G>T (n.3597+725G>T)
c.3547+1264G>T (n.3547+1264G>T)
c.2950G>T (p.Gly984Ter)
c.2917G>T (p.Gly973Ter)
c.3130G>T (p.Gly1044Ter)
Xg.53235058C>GCA413141935IQSEC2c.3787G>C (p.Gly1263Arg)
c.1453+725G>C
c.962+725G>C
c.316+1264G>C (n.316+1264G>C)
c.514+1264G>C (n.514+1264G>C)
c.*113G>C (n.*113G>C)
c.3628G>C (p.Gly1210Arg)
c.3598G>C (p.Gly1200Arg)
c.3724G>C (p.Gly1242Arg)
c.3013G>C (p.Gly1005Arg)
c.3597+725G>C (n.3597+725G>C)
c.3547+1264G>C (n.3547+1264G>C)
c.2950G>C (p.Gly984Arg)
c.2917G>C (p.Gly973Arg)
c.3130G>C (p.Gly1044Arg)
Xg.53235058C>TCA413141929IQSEC2c.3787G>A (p.Gly1263Arg)
c.1453+725G>A
c.962+725G>A
c.316+1264G>A (n.316+1264G>A)
c.514+1264G>A (n.514+1264G>A)
c.*113G>A (n.*113G>A)
c.3628G>A (p.Gly1210Arg)
c.3598G>A (p.Gly1200Arg)
c.3724G>A (p.Gly1242Arg)
c.3013G>A (p.Gly1005Arg)
c.3597+725G>A (n.3597+725G>A)
c.3547+1264G>A (n.3547+1264G>A)
c.2950G>A (p.Gly984Arg)
c.2917G>A (p.Gly973Arg)
c.3130G>A (p.Gly1044Arg)
Xg.53235059A>CCA413141939IQSEC2c.3786T>G (p.Phe1262Leu)
c.1453+724T>G
c.962+724T>G
c.316+1263T>G (n.316+1263T>G)
c.514+1263T>G (n.514+1263T>G)
c.*112T>G (n.*112T>G)
c.3627T>G (p.Phe1209Leu)
c.3597T>G (p.Phe1199Leu)
c.3723T>G (p.Phe1241Leu)
c.3012T>G (p.Phe1004Leu)
c.3597+724T>G (n.3597+724T>G)
c.3547+1263T>G (n.3547+1263T>G)
c.2949T>G (p.Phe983Leu)
c.2916T>G (p.Phe972Leu)
c.3129T>G (p.Phe1043Leu)
Xg.53235059A>GCA516673883IQSEC2c.3786T>C (p.Phe1262=)
c.1453+724T>C
c.962+724T>C
c.316+1263T>C (n.316+1263T>C)
c.514+1263T>C (n.514+1263T>C)
c.*112T>C (n.*112T>C)
c.3627T>C (p.Phe1209=)
c.3597T>C (p.Phe1199=)
c.3723T>C (p.Phe1241=)
c.3012T>C (p.Phe1004=)
c.3597+724T>C (n.3597+724T>C)
c.3547+1263T>C (n.3547+1263T>C)
c.2949T>C (p.Phe983=)
c.2916T>C (p.Phe972=)
c.3129T>C (p.Phe1043=)
Xg.53235059A>TCA413141941IQSEC2c.3786T>A (p.Phe1262Leu)
c.1453+724T>A
c.962+724T>A
c.316+1263T>A (n.316+1263T>A)
c.514+1263T>A (n.514+1263T>A)
c.*112T>A (n.*112T>A)
c.3627T>A (p.Phe1209Leu)
c.3597T>A (p.Phe1199Leu)
c.3723T>A (p.Phe1241Leu)
c.3012T>A (p.Phe1004Leu)
c.3597+724T>A (n.3597+724T>A)
c.3547+1263T>A (n.3547+1263T>A)
c.2949T>A (p.Phe983Leu)
c.2916T>A (p.Phe972Leu)
c.3129T>A (p.Phe1043Leu)
Xg.53235060A>CCA413141944IQSEC2c.3785T>G (p.Phe1262Cys)
c.1453+723T>G
c.962+723T>G
c.316+1262T>G (n.316+1262T>G)
c.514+1262T>G (n.514+1262T>G)
c.*111T>G (n.*111T>G)
c.3626T>G (p.Phe1209Cys)
c.3596T>G (p.Phe1199Cys)
c.3722T>G (p.Phe1241Cys)
c.3011T>G (p.Phe1004Cys)
c.3597+723T>G (n.3597+723T>G)
c.3547+1262T>G (n.3547+1262T>G)
c.2948T>G (p.Phe983Cys)
c.2915T>G (p.Phe972Cys)
c.3128T>G (p.Phe1043Cys)
Xg.53235060A>GCA413141947IQSEC2c.3785T>C (p.Phe1262Ser)
c.1453+723T>C
c.962+723T>C
c.316+1262T>C (n.316+1262T>C)
c.514+1262T>C (n.514+1262T>C)
c.*111T>C (n.*111T>C)
c.3626T>C (p.Phe1209Ser)
c.3596T>C (p.Phe1199Ser)
c.3722T>C (p.Phe1241Ser)
c.3011T>C (p.Phe1004Ser)
c.3597+723T>C (n.3597+723T>C)
c.3547+1262T>C (n.3547+1262T>C)
c.2948T>C (p.Phe983Ser)
c.2915T>C (p.Phe972Ser)
c.3128T>C (p.Phe1043Ser)
Xg.53235060A>TCA413141950IQSEC2c.3785T>A (p.Phe1262Tyr)
c.1453+723T>A
c.962+723T>A
c.316+1262T>A (n.316+1262T>A)
c.514+1262T>A (n.514+1262T>A)
c.*111T>A (n.*111T>A)
c.3626T>A (p.Phe1209Tyr)
c.3596T>A (p.Phe1199Tyr)
c.3722T>A (p.Phe1241Tyr)
c.3011T>A (p.Phe1004Tyr)
c.3597+723T>A (n.3597+723T>A)
c.3547+1262T>A (n.3547+1262T>A)
c.2948T>A (p.Phe983Tyr)
c.2915T>A (p.Phe972Tyr)
c.3128T>A (p.Phe1043Tyr)
Xg.53235061A>CCA413141959IQSEC2c.3784T>G (p.Phe1262Val)
c.1453+722T>G
c.962+722T>G
c.316+1261T>G (n.316+1261T>G)
c.514+1261T>G (n.514+1261T>G)
c.*110T>G (n.*110T>G)
c.3625T>G (p.Phe1209Val)
c.3595T>G (p.Phe1199Val)
c.3721T>G (p.Phe1241Val)
c.3010T>G (p.Phe1004Val)
c.3597+722T>G (n.3597+722T>G)
c.3547+1261T>G (n.3547+1261T>G)
c.2947T>G (p.Phe983Val)
c.2914T>G (p.Phe972Val)
c.3127T>G (p.Phe1043Val)
Xg.53235061A>GCA413141954IQSEC2c.3784T>C (p.Phe1262Leu)
c.1453+722T>C
c.962+722T>C
c.316+1261T>C (n.316+1261T>C)
c.514+1261T>C (n.514+1261T>C)
c.*110T>C (n.*110T>C)
c.3625T>C (p.Phe1209Leu)
c.3595T>C (p.Phe1199Leu)
c.3721T>C (p.Phe1241Leu)
c.3010T>C (p.Phe1004Leu)
c.3597+722T>C (n.3597+722T>C)
c.3547+1261T>C (n.3547+1261T>C)
c.2947T>C (p.Phe983Leu)
c.2914T>C (p.Phe972Leu)
c.3127T>C (p.Phe1043Leu)
Xg.53235061A>TCA413141956IQSEC2c.3784T>A (p.Phe1262Ile)
c.1453+722T>A
c.962+722T>A
c.316+1261T>A (n.316+1261T>A)
c.514+1261T>A (n.514+1261T>A)
c.*110T>A (n.*110T>A)
c.3625T>A (p.Phe1209Ile)
c.3595T>A (p.Phe1199Ile)
c.3721T>A (p.Phe1241Ile)
c.3010T>A (p.Phe1004Ile)
c.3597+722T>A (n.3597+722T>A)
c.3547+1261T>A (n.3547+1261T>A)
c.2947T>A (p.Phe983Ile)
c.2914T>A (p.Phe972Ile)
c.3127T>A (p.Phe1043Ile)
Xg.53235062T>ACA516673889IQSEC2c.3783A>T (p.Leu1261=)
c.1453+721A>T
c.962+721A>T
c.316+1260A>T (n.316+1260A>T)
c.514+1260A>T (n.514+1260A>T)
c.*109A>T (n.*109A>T)
c.3624A>T (p.Leu1208=)
c.3594A>T (p.Leu1198=)
c.3720A>T (p.Leu1240=)
c.3009A>T (p.Leu1003=)
c.3597+721A>T (n.3597+721A>T)
c.3547+1260A>T (n.3547+1260A>T)
c.2946A>T (p.Leu982=)
c.2913A>T (p.Leu971=)
c.3126A>T (p.Leu1042=)
Xg.53235062T>CCA516673890IQSEC2c.3783A>G (p.Leu1261=)
c.1453+721A>G
c.962+721A>G
c.316+1260A>G (n.316+1260A>G)
c.514+1260A>G (n.514+1260A>G)
c.*109A>G (n.*109A>G)
c.3624A>G (p.Leu1208=)
c.3594A>G (p.Leu1198=)
c.3720A>G (p.Leu1240=)
c.3009A>G (p.Leu1003=)
c.3597+721A>G (n.3597+721A>G)
c.3547+1260A>G (n.3547+1260A>G)
c.2946A>G (p.Leu982=)
c.2913A>G (p.Leu971=)
c.3126A>G (p.Leu1042=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53235062T>GCA516673891IQSEC2c.3783A>C (p.Leu1261=)
c.1453+721A>C
c.962+721A>C
c.316+1260A>C (n.316+1260A>C)
c.514+1260A>C (n.514+1260A>C)
c.*109A>C (n.*109A>C)
c.3624A>C (p.Leu1208=)
c.3594A>C (p.Leu1198=)
c.3720A>C (p.Leu1240=)
c.3009A>C (p.Leu1003=)
c.3597+721A>C (n.3597+721A>C)
c.3547+1260A>C (n.3547+1260A>C)
c.2946A>C (p.Leu982=)
c.2913A>C (p.Leu971=)
c.3126A>C (p.Leu1042=)
Xg.53235062T=CA2429770683IQSEC2c.3783A= (p.Leu1261=)
c.1453+721A=
c.962+721A=
c.316+1260A= (n.316+1260A=)
c.514+1260A= (n.514+1260A=)
c.*109A= (n.*109A=)
c.3624A= (p.Leu1208=)
c.3594A= (p.Leu1198=)
c.3720A= (p.Leu1240=)
c.3009A= (p.Leu1003=)
c.3597+721A= (n.3597+721A=)
c.3547+1260A= (n.3547+1260A=)
c.2946A= (p.Leu982=)
c.2913A= (p.Leu971=)
c.3126A= (p.Leu1042=)
Xg.53235063A>CCA413141963IQSEC2c.3782T>G (p.Leu1261Arg)
c.1453+720T>G
c.962+720T>G
c.316+1259T>G (n.316+1259T>G)
c.514+1259T>G (n.514+1259T>G)
c.*108T>G (n.*108T>G)
c.3623T>G (p.Leu1208Arg)
c.3593T>G (p.Leu1198Arg)
c.3719T>G (p.Leu1240Arg)
c.3008T>G (p.Leu1003Arg)
c.3597+720T>G (n.3597+720T>G)
c.3547+1259T>G (n.3547+1259T>G)
c.2945T>G (p.Leu982Arg)
c.2912T>G (p.Leu971Arg)
c.3125T>G (p.Leu1042Arg)
Xg.53235063A>GCA413141965IQSEC2c.3782T>C (p.Leu1261Pro)
c.1453+720T>C
c.962+720T>C
c.316+1259T>C (n.316+1259T>C)
c.514+1259T>C (n.514+1259T>C)
c.*108T>C (n.*108T>C)
c.3623T>C (p.Leu1208Pro)
c.3593T>C (p.Leu1198Pro)
c.3719T>C (p.Leu1240Pro)
c.3008T>C (p.Leu1003Pro)
c.3597+720T>C (n.3597+720T>C)
c.3547+1259T>C (n.3547+1259T>C)
c.2945T>C (p.Leu982Pro)
c.2912T>C (p.Leu971Pro)
c.3125T>C (p.Leu1042Pro)
Xg.53235063A>TCA413141967IQSEC2c.3782T>A (p.Leu1261Gln)
c.1453+720T>A
c.962+720T>A
c.316+1259T>A (n.316+1259T>A)
c.514+1259T>A (n.514+1259T>A)
c.*108T>A (n.*108T>A)
c.3623T>A (p.Leu1208Gln)
c.3593T>A (p.Leu1198Gln)
c.3719T>A (p.Leu1240Gln)
c.3008T>A (p.Leu1003Gln)
c.3597+720T>A (n.3597+720T>A)
c.3547+1259T>A (n.3547+1259T>A)
c.2945T>A (p.Leu982Gln)
c.2912T>A (p.Leu971Gln)
c.3125T>A (p.Leu1042Gln)
Xg.53235064G>ACA516673896IQSEC2c.3781C>T (p.Leu1261=)
c.1453+719C>T
c.962+719C>T
c.316+1258C>T (n.316+1258C>T)
c.514+1258C>T (n.514+1258C>T)
c.*107C>T (n.*107C>T)
c.3622C>T (p.Leu1208=)
c.3592C>T (p.Leu1198=)
c.3718C>T (p.Leu1240=)
c.3007C>T (p.Leu1003=)
c.3597+719C>T (n.3597+719C>T)
c.3547+1258C>T (n.3547+1258C>T)
c.2944C>T (p.Leu982=)
c.2911C>T (p.Leu971=)
c.3124C>T (p.Leu1042=)
 gnomAD v4
Xg.53235064G>CCA413141973IQSEC2c.3781C>G (p.Leu1261Val)
c.1453+719C>G
c.962+719C>G
c.316+1258C>G (n.316+1258C>G)
c.514+1258C>G (n.514+1258C>G)
c.*107C>G (n.*107C>G)
c.3622C>G (p.Leu1208Val)
c.3592C>G (p.Leu1198Val)
c.3718C>G (p.Leu1240Val)
c.3007C>G (p.Leu1003Val)
c.3597+719C>G (n.3597+719C>G)
c.3547+1258C>G (n.3547+1258C>G)
c.2944C>G (p.Leu982Val)
c.2911C>G (p.Leu971Val)
c.3124C>G (p.Leu1042Val)
Xg.53235064G>TCA413141986IQSEC2c.3781C>A (p.Leu1261Ile)
c.1453+719C>A
c.962+719C>A
c.316+1258C>A (n.316+1258C>A)
c.514+1258C>A (n.514+1258C>A)
c.*107C>A (n.*107C>A)
c.3622C>A (p.Leu1208Ile)
c.3592C>A (p.Leu1198Ile)
c.3718C>A (p.Leu1240Ile)
c.3007C>A (p.Leu1003Ile)
c.3597+719C>A (n.3597+719C>A)
c.3547+1258C>A (n.3547+1258C>A)
c.2944C>A (p.Leu982Ile)
c.2911C>A (p.Leu971Ile)
c.3124C>A (p.Leu1042Ile)
Xg.53235065G>ACA516673897IQSEC2c.3780C>T (p.Ser1260=)
c.1453+718C>T
c.962+718C>T
c.316+1257C>T (n.316+1257C>T)
c.514+1257C>T (n.514+1257C>T)
c.*106C>T (n.*106C>T)
c.3621C>T (p.Ser1207=)
c.3591C>T (p.Ser1197=)
c.3717C>T (p.Ser1239=)
c.3006C>T (p.Ser1002=)
c.3597+718C>T (n.3597+718C>T)
c.3547+1257C>T (n.3547+1257C>T)
c.2943C>T (p.Ser981=)
c.2910C>T (p.Ser970=)
c.3123C>T (p.Ser1041=)
 ClinVar gnomAD v4
Xg.53235065G>CCA516673898IQSEC2c.3780C>G (p.Ser1260=)
c.1453+718C>G
c.962+718C>G
c.316+1257C>G (n.316+1257C>G)
c.514+1257C>G (n.514+1257C>G)
c.*106C>G (n.*106C>G)
c.3621C>G (p.Ser1207=)
c.3591C>G (p.Ser1197=)
c.3717C>G (p.Ser1239=)
c.3006C>G (p.Ser1002=)
c.3597+718C>G (n.3597+718C>G)
c.3547+1257C>G (n.3547+1257C>G)
c.2943C>G (p.Ser981=)
c.2910C>G (p.Ser970=)
c.3123C>G (p.Ser1041=)
Xg.53235065G>TCA516673899IQSEC2c.3780C>A (p.Ser1260=)
c.1453+718C>A
c.962+718C>A
c.316+1257C>A (n.316+1257C>A)
c.514+1257C>A (n.514+1257C>A)
c.*106C>A (n.*106C>A)
c.3621C>A (p.Ser1207=)
c.3591C>A (p.Ser1197=)
c.3717C>A (p.Ser1239=)
c.3006C>A (p.Ser1002=)
c.3597+718C>A (n.3597+718C>A)
c.3547+1257C>A (n.3547+1257C>A)
c.2943C>A (p.Ser981=)
c.2910C>A (p.Ser970=)
c.3123C>A (p.Ser1041=)
Xg.53235066G>ACA413141991IQSEC2c.3779C>T (p.Ser1260Phe)
c.1453+717C>T
c.962+717C>T
c.316+1256C>T (n.316+1256C>T)
c.514+1256C>T (n.514+1256C>T)
c.*105C>T (n.*105C>T)
c.3620C>T (p.Ser1207Phe)
c.3590C>T (p.Ser1197Phe)
c.3716C>T (p.Ser1239Phe)
c.3005C>T (p.Ser1002Phe)
c.3597+717C>T (n.3597+717C>T)
c.3547+1256C>T (n.3547+1256C>T)
c.2942C>T (p.Ser981Phe)
c.2909C>T (p.Ser970Phe)
c.3122C>T (p.Ser1041Phe)
Xg.53235066G>CCA413141997IQSEC2c.3779C>G (p.Ser1260Cys)
c.1453+717C>G
c.962+717C>G
c.316+1256C>G (n.316+1256C>G)
c.514+1256C>G (n.514+1256C>G)
c.*105C>G (n.*105C>G)
c.3620C>G (p.Ser1207Cys)
c.3590C>G (p.Ser1197Cys)
c.3716C>G (p.Ser1239Cys)
c.3005C>G (p.Ser1002Cys)
c.3597+717C>G (n.3597+717C>G)
c.3547+1256C>G (n.3547+1256C>G)
c.2942C>G (p.Ser981Cys)
c.2909C>G (p.Ser970Cys)
c.3122C>G (p.Ser1041Cys)
Xg.53235066G>TCA413141994IQSEC2c.3779C>A (p.Ser1260Tyr)
c.1453+717C>A
c.962+717C>A
c.316+1256C>A (n.316+1256C>A)
c.514+1256C>A (n.514+1256C>A)
c.*105C>A (n.*105C>A)
c.3620C>A (p.Ser1207Tyr)
c.3590C>A (p.Ser1197Tyr)
c.3716C>A (p.Ser1239Tyr)
c.3005C>A (p.Ser1002Tyr)
c.3597+717C>A (n.3597+717C>A)
c.3547+1256C>A (n.3547+1256C>A)
c.2942C>A (p.Ser981Tyr)
c.2909C>A (p.Ser970Tyr)
c.3122C>A (p.Ser1041Tyr)
Xg.53235067A>CCA413142001IQSEC2c.3778T>G (p.Ser1260Ala)
c.1453+716T>G
c.962+716T>G
c.316+1255T>G (n.316+1255T>G)
c.514+1255T>G (n.514+1255T>G)
c.*104T>G (n.*104T>G)
c.3619T>G (p.Ser1207Ala)
c.3589T>G (p.Ser1197Ala)
c.3715T>G (p.Ser1239Ala)
c.3004T>G (p.Ser1002Ala)
c.3597+716T>G (n.3597+716T>G)
c.3547+1255T>G (n.3547+1255T>G)
c.2941T>G (p.Ser981Ala)
c.2908T>G (p.Ser970Ala)
c.3121T>G (p.Ser1041Ala)
Xg.53235067A>GCA413142004IQSEC2c.3778T>C (p.Ser1260Pro)
c.1453+716T>C
c.962+716T>C
c.316+1255T>C (n.316+1255T>C)
c.514+1255T>C (n.514+1255T>C)
c.*104T>C (n.*104T>C)
c.3619T>C (p.Ser1207Pro)
c.3589T>C (p.Ser1197Pro)
c.3715T>C (p.Ser1239Pro)
c.3004T>C (p.Ser1002Pro)
c.3597+716T>C (n.3597+716T>C)
c.3547+1255T>C (n.3547+1255T>C)
c.2941T>C (p.Ser981Pro)
c.2908T>C (p.Ser970Pro)
c.3121T>C (p.Ser1041Pro)
Xg.53235067A>TCA413142007IQSEC2c.3778T>A (p.Ser1260Thr)
c.1453+716T>A
c.962+716T>A
c.316+1255T>A (n.316+1255T>A)
c.514+1255T>A (n.514+1255T>A)
c.*104T>A (n.*104T>A)
c.3619T>A (p.Ser1207Thr)
c.3589T>A (p.Ser1197Thr)
c.3715T>A (p.Ser1239Thr)
c.3004T>A (p.Ser1002Thr)
c.3597+716T>A (n.3597+716T>A)
c.3547+1255T>A (n.3547+1255T>A)
c.2941T>A (p.Ser981Thr)
c.2908T>A (p.Ser970Thr)
c.3121T>A (p.Ser1041Thr)
Xg.53235068G>ACA516673904IQSEC2c.3777C>T (p.Gly1259=)
c.1453+715C>T
c.962+715C>T
c.316+1254C>T (n.316+1254C>T)
c.514+1254C>T (n.514+1254C>T)
c.*103C>T (n.*103C>T)
c.3618C>T (p.Gly1206=)
c.3588C>T (p.Gly1196=)
c.3714C>T (p.Gly1238=)
c.3003C>T (p.Gly1001=)
c.3597+715C>T (n.3597+715C>T)
c.3547+1254C>T (n.3547+1254C>T)
c.2940C>T (p.Gly980=)
c.2907C>T (p.Gly969=)
c.3120C>T (p.Gly1040=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235068G>CCA516673905IQSEC2c.3777C>G (p.Gly1259=)
c.1453+715C>G
c.962+715C>G
c.316+1254C>G (n.316+1254C>G)
c.514+1254C>G (n.514+1254C>G)
c.*103C>G (n.*103C>G)
c.3618C>G (p.Gly1206=)
c.3588C>G (p.Gly1196=)
c.3714C>G (p.Gly1238=)
c.3003C>G (p.Gly1001=)
c.3597+715C>G (n.3597+715C>G)
c.3547+1254C>G (n.3547+1254C>G)
c.2940C>G (p.Gly980=)
c.2907C>G (p.Gly969=)
c.3120C>G (p.Gly1040=)
Xg.53235068G=CA2429770684IQSEC2c.3777C= (p.Gly1259=)
c.1453+715C=
c.962+715C=
c.316+1254C= (n.316+1254C=)
c.514+1254C= (n.514+1254C=)
c.*103C= (n.*103C=)
c.3618C= (p.Gly1206=)
c.3588C= (p.Gly1196=)
c.3714C= (p.Gly1238=)
c.3003C= (p.Gly1001=)
c.3597+715C= (n.3597+715C=)
c.3547+1254C= (n.3547+1254C=)
c.2940C= (p.Gly980=)
c.2907C= (p.Gly969=)
c.3120C= (p.Gly1040=)
Xg.53235068G>TCA516673906IQSEC2c.3777C>A (p.Gly1259=)
c.1453+715C>A
c.962+715C>A
c.316+1254C>A (n.316+1254C>A)
c.514+1254C>A (n.514+1254C>A)
c.*103C>A (n.*103C>A)
c.3618C>A (p.Gly1206=)
c.3588C>A (p.Gly1196=)
c.3714C>A (p.Gly1238=)
c.3003C>A (p.Gly1001=)
c.3597+715C>A (n.3597+715C>A)
c.3547+1254C>A (n.3547+1254C>A)
c.2940C>A (p.Gly980=)
c.2907C>A (p.Gly969=)
c.3120C>A (p.Gly1040=)
 gnomAD v4
Xg.53235069C>ACA413142012IQSEC2c.3776G>T (p.Gly1259Val)
c.1453+714G>T
c.962+714G>T
c.316+1253G>T (n.316+1253G>T)
c.514+1253G>T (n.514+1253G>T)
c.*102G>T (n.*102G>T)
c.3617G>T (p.Gly1206Val)
c.3587G>T (p.Gly1196Val)
c.3713G>T (p.Gly1238Val)
c.3002G>T (p.Gly1001Val)
c.3597+714G>T (n.3597+714G>T)
c.3547+1253G>T (n.3547+1253G>T)
c.2939G>T (p.Gly980Val)
c.2906G>T (p.Gly969Val)
c.3119G>T (p.Gly1040Val)
 gnomAD v4
Xg.53235069C=CA2429770685IQSEC2c.3776G= (p.Gly1259=)
c.1453+714G=
c.962+714G=
c.316+1253G= (n.316+1253G=)
c.514+1253G= (n.514+1253G=)
c.*102G= (n.*102G=)
c.3617G= (p.Gly1206=)
c.3587G= (p.Gly1196=)
c.3713G= (p.Gly1238=)
c.3002G= (p.Gly1001=)
c.3597+714G= (n.3597+714G=)
c.3547+1253G= (n.3547+1253G=)
c.2939G= (p.Gly980=)
c.2906G= (p.Gly969=)
c.3119G= (p.Gly1040=)
Xg.53235069C>GCA209619IQSEC2c.3776G>C (p.Gly1259Ala)
c.1453+714G>C
c.962+714G>C
c.316+1253G>C (n.316+1253G>C)
c.514+1253G>C (n.514+1253G>C)
c.*102G>C (n.*102G>C)
c.3617G>C (p.Gly1206Ala)
c.3587G>C (p.Gly1196Ala)
c.3713G>C (p.Gly1238Ala)
c.3002G>C (p.Gly1001Ala)
c.3597+714G>C (n.3597+714G>C)
c.3547+1253G>C (n.3547+1253G>C)
c.2939G>C (p.Gly980Ala)
c.2906G>C (p.Gly969Ala)
c.3119G>C (p.Gly1040Ala)
 ClinVar dbSNP gnomAD v4
Xg.53235069C>TCA413142019IQSEC2c.3776G>A (p.Gly1259Asp)
c.1453+714G>A
c.962+714G>A
c.316+1253G>A (n.316+1253G>A)
c.514+1253G>A (n.514+1253G>A)
c.*102G>A (n.*102G>A)
c.3617G>A (p.Gly1206Asp)
c.3587G>A (p.Gly1196Asp)
c.3713G>A (p.Gly1238Asp)
c.3002G>A (p.Gly1001Asp)
c.3597+714G>A (n.3597+714G>A)
c.3547+1253G>A (n.3547+1253G>A)
c.2939G>A (p.Gly980Asp)
c.2906G>A (p.Gly969Asp)
c.3119G>A (p.Gly1040Asp)
Xg.53235070C>ACA413142024IQSEC2c.3775G>T (p.Gly1259Cys)
c.1453+713G>T
c.962+713G>T
c.316+1252G>T (n.316+1252G>T)
c.514+1252G>T (n.514+1252G>T)
c.*101G>T (n.*101G>T)
c.3616G>T (p.Gly1206Cys)
c.3586G>T (p.Gly1196Cys)
c.3712G>T (p.Gly1238Cys)
c.3001G>T (p.Gly1001Cys)
c.3597+713G>T (n.3597+713G>T)
c.3547+1252G>T (n.3547+1252G>T)
c.2938G>T (p.Gly980Cys)
c.2905G>T (p.Gly969Cys)
c.3118G>T (p.Gly1040Cys)
Xg.53235070C>GCA413142028IQSEC2c.3775G>C (p.Gly1259Arg)
c.1453+713G>C
c.962+713G>C
c.316+1252G>C (n.316+1252G>C)
c.514+1252G>C (n.514+1252G>C)
c.*101G>C (n.*101G>C)
c.3616G>C (p.Gly1206Arg)
c.3586G>C (p.Gly1196Arg)
c.3712G>C (p.Gly1238Arg)
c.3001G>C (p.Gly1001Arg)
c.3597+713G>C (n.3597+713G>C)
c.3547+1252G>C (n.3547+1252G>C)
c.2938G>C (p.Gly980Arg)
c.2905G>C (p.Gly969Arg)
c.3118G>C (p.Gly1040Arg)
Xg.53235070C>TCA413142030IQSEC2c.3775G>A (p.Gly1259Ser)
c.1453+713G>A
c.962+713G>A
c.316+1252G>A (n.316+1252G>A)
c.514+1252G>A (n.514+1252G>A)
c.*101G>A (n.*101G>A)
c.3616G>A (p.Gly1206Ser)
c.3586G>A (p.Gly1196Ser)
c.3712G>A (p.Gly1238Ser)
c.3001G>A (p.Gly1001Ser)
c.3597+713G>A (n.3597+713G>A)
c.3547+1252G>A (n.3547+1252G>A)
c.2938G>A (p.Gly980Ser)
c.2905G>A (p.Gly969Ser)
c.3118G>A (p.Gly1040Ser)
Xg.53235071C>ACA516673908IQSEC2c.3774G>T (p.Leu1258=)
c.1453+712G>T
c.962+712G>T
c.316+1251G>T (n.316+1251G>T)
c.514+1251G>T (n.514+1251G>T)
c.*100G>T (n.*100G>T)
c.3615G>T (p.Leu1205=)
c.3585G>T (p.Leu1195=)
c.3711G>T (p.Leu1237=)
c.3000G>T (p.Leu1000=)
c.3597+712G>T (n.3597+712G>T)
c.3547+1251G>T (n.3547+1251G>T)
c.2937G>T (p.Leu979=)
c.2904G>T (p.Leu968=)
c.3117G>T (p.Leu1039=)
 gnomAD v4
Xg.53235071C>GCA516673909IQSEC2c.3774G>C (p.Leu1258=)
c.1453+712G>C
c.962+712G>C
c.316+1251G>C (n.316+1251G>C)
c.514+1251G>C (n.514+1251G>C)
c.*100G>C (n.*100G>C)
c.3615G>C (p.Leu1205=)
c.3585G>C (p.Leu1195=)
c.3711G>C (p.Leu1237=)
c.3000G>C (p.Leu1000=)
c.3597+712G>C (n.3597+712G>C)
c.3547+1251G>C (n.3547+1251G>C)
c.2937G>C (p.Leu979=)
c.2904G>C (p.Leu968=)
c.3117G>C (p.Leu1039=)
Xg.53235071C>TCA516673910IQSEC2c.3774G>A (p.Leu1258=)
c.1453+712G>A
c.962+712G>A
c.316+1251G>A (n.316+1251G>A)
c.514+1251G>A (n.514+1251G>A)
c.*100G>A (n.*100G>A)
c.3615G>A (p.Leu1205=)
c.3585G>A (p.Leu1195=)
c.3711G>A (p.Leu1237=)
c.3000G>A (p.Leu1000=)
c.3597+712G>A (n.3597+712G>A)
c.3547+1251G>A (n.3547+1251G>A)
c.2937G>A (p.Leu979=)
c.2904G>A (p.Leu968=)
c.3117G>A (p.Leu1039=)
Xg.53235072A>CCA413142034IQSEC2c.3773T>G (p.Leu1258Arg)
c.1453+711T>G
c.962+711T>G
c.316+1250T>G (n.316+1250T>G)
c.514+1250T>G (n.514+1250T>G)
c.*99T>G (n.*99T>G)
c.3614T>G (p.Leu1205Arg)
c.3584T>G (p.Leu1195Arg)
c.3710T>G (p.Leu1237Arg)
c.2999T>G (p.Leu1000Arg)
c.3597+711T>G (n.3597+711T>G)
c.3547+1250T>G (n.3547+1250T>G)
c.2936T>G (p.Leu979Arg)
c.2903T>G (p.Leu968Arg)
c.3116T>G (p.Leu1039Arg)
Xg.53235072A>GCA413142038IQSEC2c.3773T>C (p.Leu1258Pro)
c.1453+711T>C
c.962+711T>C
c.316+1250T>C (n.316+1250T>C)
c.514+1250T>C (n.514+1250T>C)
c.*99T>C (n.*99T>C)
c.3614T>C (p.Leu1205Pro)
c.3584T>C (p.Leu1195Pro)
c.3710T>C (p.Leu1237Pro)
c.2999T>C (p.Leu1000Pro)
c.3597+711T>C (n.3597+711T>C)
c.3547+1250T>C (n.3547+1250T>C)
c.2936T>C (p.Leu979Pro)
c.2903T>C (p.Leu968Pro)
c.3116T>C (p.Leu1039Pro)
Xg.53235072A>TCA413142041IQSEC2c.3773T>A (p.Leu1258Gln)
c.1453+711T>A
c.962+711T>A
c.316+1250T>A (n.316+1250T>A)
c.514+1250T>A (n.514+1250T>A)
c.*99T>A (n.*99T>A)
c.3614T>A (p.Leu1205Gln)
c.3584T>A (p.Leu1195Gln)
c.3710T>A (p.Leu1237Gln)
c.2999T>A (p.Leu1000Gln)
c.3597+711T>A (n.3597+711T>A)
c.3547+1250T>A (n.3547+1250T>A)
c.2936T>A (p.Leu979Gln)
c.2903T>A (p.Leu968Gln)
c.3116T>A (p.Leu1039Gln)
Xg.53235073G>ACA516673913IQSEC2c.3772C>T (p.Leu1258=)
c.1453+710C>T
c.962+710C>T
c.316+1249C>T (n.316+1249C>T)
c.514+1249C>T (n.514+1249C>T)
c.*98C>T (n.*98C>T)
c.3613C>T (p.Leu1205=)
c.3583C>T (p.Leu1195=)
c.3709C>T (p.Leu1237=)
c.2998C>T (p.Leu1000=)
c.3597+710C>T (n.3597+710C>T)
c.3547+1249C>T (n.3547+1249C>T)
c.2935C>T (p.Leu979=)
c.2902C>T (p.Leu968=)
c.3115C>T (p.Leu1039=)
Xg.53235073G>CCA413142045IQSEC2c.3772C>G (p.Leu1258Val)
c.1453+710C>G
c.962+710C>G
c.316+1249C>G (n.316+1249C>G)
c.514+1249C>G (n.514+1249C>G)
c.*98C>G (n.*98C>G)
c.3613C>G (p.Leu1205Val)
c.3583C>G (p.Leu1195Val)
c.3709C>G (p.Leu1237Val)
c.2998C>G (p.Leu1000Val)
c.3597+710C>G (n.3597+710C>G)
c.3547+1249C>G (n.3547+1249C>G)
c.2935C>G (p.Leu979Val)
c.2902C>G (p.Leu968Val)
c.3115C>G (p.Leu1039Val)
Xg.53235073G>TCA413142048IQSEC2c.3772C>A (p.Leu1258Met)
c.1453+710C>A
c.962+710C>A
c.316+1249C>A (n.316+1249C>A)
c.514+1249C>A (n.514+1249C>A)
c.*98C>A (n.*98C>A)
c.3613C>A (p.Leu1205Met)
c.3583C>A (p.Leu1195Met)
c.3709C>A (p.Leu1237Met)
c.2998C>A (p.Leu1000Met)
c.3597+710C>A (n.3597+710C>A)
c.3547+1249C>A (n.3547+1249C>A)
c.2935C>A (p.Leu979Met)
c.2902C>A (p.Leu968Met)
c.3115C>A (p.Leu1039Met)
Xg.53235074delCA2580101218IQSEC2c.3772del (p.Leu1258TrpfsTer?)
c.1453+710del
c.962+710del
c.316+1249del (n.316+1249del)
c.514+1249del (n.514+1249del)
c.*98del (n.*98del)
c.3613del (p.Leu1205TrpfsTer?)
c.3583del (p.Leu1195TrpfsTer?)
c.3709del (p.Leu1237TrpfsTer?)
c.2998del (p.Leu1000TrpfsTer?)
c.3597+710del (n.3597+710del)
c.3547+1249del (n.3547+1249del)
c.2935del (p.Leu979TrpfsTer?)
c.2902del (p.Leu968TrpfsTer?)
c.3115del (p.Leu1039TrpfsTer?)
 ClinVar
Xg.53235074G>ACA516673916IQSEC2c.3771C>T (p.Phe1257=)
c.1453+709C>T
c.962+709C>T
c.316+1248C>T (n.316+1248C>T)
c.514+1248C>T (n.514+1248C>T)
c.*97C>T (n.*97C>T)
c.3612C>T (p.Phe1204=)
c.3582C>T (p.Phe1194=)
c.3708C>T (p.Phe1236=)
c.2997C>T (p.Phe999=)
c.3597+709C>T (n.3597+709C>T)
c.3547+1248C>T (n.3547+1248C>T)
c.2934C>T (p.Phe978=)
c.2901C>T (p.Phe967=)
c.3114C>T (p.Phe1038=)
 gnomAD v4
Xg.53235074G>CCA413142051IQSEC2c.3771C>G (p.Phe1257Leu)
c.1453+709C>G
c.962+709C>G
c.316+1248C>G (n.316+1248C>G)
c.514+1248C>G (n.514+1248C>G)
c.*97C>G (n.*97C>G)
c.3612C>G (p.Phe1204Leu)
c.3582C>G (p.Phe1194Leu)
c.3708C>G (p.Phe1236Leu)
c.2997C>G (p.Phe999Leu)
c.3597+709C>G (n.3597+709C>G)
c.3547+1248C>G (n.3547+1248C>G)
c.2934C>G (p.Phe978Leu)
c.2901C>G (p.Phe967Leu)
c.3114C>G (p.Phe1038Leu)
Xg.53235074G>TCA413142054IQSEC2c.3771C>A (p.Phe1257Leu)
c.1453+709C>A
c.962+709C>A
c.316+1248C>A (n.316+1248C>A)
c.514+1248C>A (n.514+1248C>A)
c.*97C>A (n.*97C>A)
c.3612C>A (p.Phe1204Leu)
c.3582C>A (p.Phe1194Leu)
c.3708C>A (p.Phe1236Leu)
c.2997C>A (p.Phe999Leu)
c.3597+709C>A (n.3597+709C>A)
c.3547+1248C>A (n.3547+1248C>A)
c.2934C>A (p.Phe978Leu)
c.2901C>A (p.Phe967Leu)
c.3114C>A (p.Phe1038Leu)
Xg.53235075A>CCA413142058IQSEC2c.3770T>G (p.Phe1257Cys)
c.1453+708T>G
c.962+708T>G
c.316+1247T>G (n.316+1247T>G)
c.514+1247T>G (n.514+1247T>G)
c.*96T>G (n.*96T>G)
c.3611T>G (p.Phe1204Cys)
c.3581T>G (p.Phe1194Cys)
c.3707T>G (p.Phe1236Cys)
c.2996T>G (p.Phe999Cys)
c.3597+708T>G (n.3597+708T>G)
c.3547+1247T>G (n.3547+1247T>G)
c.2933T>G (p.Phe978Cys)
c.2900T>G (p.Phe967Cys)
c.3113T>G (p.Phe1038Cys)
Xg.53235075A>GCA413142061IQSEC2c.3770T>C (p.Phe1257Ser)
c.1453+708T>C
c.962+708T>C
c.316+1247T>C (n.316+1247T>C)
c.514+1247T>C (n.514+1247T>C)
c.*96T>C (n.*96T>C)
c.3611T>C (p.Phe1204Ser)
c.3581T>C (p.Phe1194Ser)
c.3707T>C (p.Phe1236Ser)
c.2996T>C (p.Phe999Ser)
c.3597+708T>C (n.3597+708T>C)
c.3547+1247T>C (n.3547+1247T>C)
c.2933T>C (p.Phe978Ser)
c.2900T>C (p.Phe967Ser)
c.3113T>C (p.Phe1038Ser)
Xg.53235075A>TCA413142064IQSEC2c.3770T>A (p.Phe1257Tyr)
c.1453+708T>A
c.962+708T>A
c.316+1247T>A (n.316+1247T>A)
c.514+1247T>A (n.514+1247T>A)
c.*96T>A (n.*96T>A)
c.3611T>A (p.Phe1204Tyr)
c.3581T>A (p.Phe1194Tyr)
c.3707T>A (p.Phe1236Tyr)
c.2996T>A (p.Phe999Tyr)
c.3597+708T>A (n.3597+708T>A)
c.3547+1247T>A (n.3547+1247T>A)
c.2933T>A (p.Phe978Tyr)
c.2900T>A (p.Phe967Tyr)
c.3113T>A (p.Phe1038Tyr)
Xg.53235076A>CCA413142068IQSEC2c.3769T>G (p.Phe1257Val)
c.1453+707T>G
c.962+707T>G
c.316+1246T>G (n.316+1246T>G)
c.514+1246T>G (n.514+1246T>G)
c.*95T>G (n.*95T>G)
c.3610T>G (p.Phe1204Val)
c.3580T>G (p.Phe1194Val)
c.3706T>G (p.Phe1236Val)
c.2995T>G (p.Phe999Val)
c.3597+707T>G (n.3597+707T>G)
c.3547+1246T>G (n.3547+1246T>G)
c.2932T>G (p.Phe978Val)
c.2899T>G (p.Phe967Val)
c.3112T>G (p.Phe1038Val)
Xg.53235076A>GCA413142072IQSEC2c.3769T>C (p.Phe1257Leu)
c.1453+707T>C
c.962+707T>C
c.316+1246T>C (n.316+1246T>C)
c.514+1246T>C (n.514+1246T>C)
c.*95T>C (n.*95T>C)
c.3610T>C (p.Phe1204Leu)
c.3580T>C (p.Phe1194Leu)
c.3706T>C (p.Phe1236Leu)
c.2995T>C (p.Phe999Leu)
c.3597+707T>C (n.3597+707T>C)
c.3547+1246T>C (n.3547+1246T>C)
c.2932T>C (p.Phe978Leu)
c.2899T>C (p.Phe967Leu)
c.3112T>C (p.Phe1038Leu)
Xg.53235076A>TCA413142076IQSEC2c.3769T>A (p.Phe1257Ile)
c.1453+707T>A
c.962+707T>A
c.316+1246T>A (n.316+1246T>A)
c.514+1246T>A (n.514+1246T>A)
c.*95T>A (n.*95T>A)
c.3610T>A (p.Phe1204Ile)
c.3580T>A (p.Phe1194Ile)
c.3706T>A (p.Phe1236Ile)
c.2995T>A (p.Phe999Ile)
c.3597+707T>A (n.3597+707T>A)
c.3547+1246T>A (n.3547+1246T>A)
c.2932T>A (p.Phe978Ile)
c.2899T>A (p.Phe967Ile)
c.3112T>A (p.Phe1038Ile)
Xg.53235077G>ACA516673923IQSEC2c.3768C>T (p.Ser1256=)
c.1453+706C>T
c.962+706C>T
c.316+1245C>T (n.316+1245C>T)
c.514+1245C>T (n.514+1245C>T)
c.*94C>T (n.*94C>T)
c.3609C>T (p.Ser1203=)
c.3579C>T (p.Ser1193=)
c.3705C>T (p.Ser1235=)
c.2994C>T (p.Ser998=)
c.3597+706C>T (n.3597+706C>T)
c.3547+1245C>T (n.3547+1245C>T)
c.2931C>T (p.Ser977=)
c.2898C>T (p.Ser966=)
c.3111C>T (p.Ser1037=)
Xg.53235077G>CCA516673924IQSEC2c.3768C>G (p.Ser1256=)
c.1453+706C>G
c.962+706C>G
c.316+1245C>G (n.316+1245C>G)
c.514+1245C>G (n.514+1245C>G)
c.*94C>G (n.*94C>G)
c.3609C>G (p.Ser1203=)
c.3579C>G (p.Ser1193=)
c.3705C>G (p.Ser1235=)
c.2994C>G (p.Ser998=)
c.3597+706C>G (n.3597+706C>G)
c.3547+1245C>G (n.3547+1245C>G)
c.2931C>G (p.Ser977=)
c.2898C>G (p.Ser966=)
c.3111C>G (p.Ser1037=)
Xg.53235077G>TCA516673925IQSEC2c.3768C>A (p.Ser1256=)
c.1453+706C>A
c.962+706C>A
c.316+1245C>A (n.316+1245C>A)
c.514+1245C>A (n.514+1245C>A)
c.*94C>A (n.*94C>A)
c.3609C>A (p.Ser1203=)
c.3579C>A (p.Ser1193=)
c.3705C>A (p.Ser1235=)
c.2994C>A (p.Ser998=)
c.3597+706C>A (n.3597+706C>A)
c.3547+1245C>A (n.3547+1245C>A)
c.2931C>A (p.Ser977=)
c.2898C>A (p.Ser966=)
c.3111C>A (p.Ser1037=)

Number of alleles fetched