Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53234695delCA2693794283IQSEC2c.4153del (p.Gln1385AsnfsTer?)
c.1453+1091del
c.962+1091del
c.316+1630del (n.316+1630del)
c.514+1630del (n.514+1630del)
c.*479del (n.*479del)
c.3994del (p.Gln1332AsnfsTer?)
c.3964del (p.Gln1322AsnfsTer?)
c.4090del (p.Gln1364AsnfsTer?)
c.3379del (p.Gln1127AsnfsTer?)
c.3597+1091del (n.3597+1091del)
c.3547+1630del (n.3547+1630del)
c.3316del (p.Gln1106AsnfsTer?)
c.3283del (p.Gln1095AsnfsTer?)
c.3496del (p.Gln1166AsnfsTer?)
 gnomAD v4
Xg.53234694_53234695delCA2738651244IQSEC2c.4152_4153del (p.Gln1385ThrfsTer?)
c.1453+1090_1453+1091del
c.962+1090_962+1091del
c.316+1629_316+1630del (n.316+1629_316+1630del)
c.514+1629_514+1630del (n.514+1629_514+1630del)
c.*478_*479del (n.*478_*479del)
c.3993_3994del (p.Gln1332ThrfsTer?)
c.3963_3964del (p.Gln1322ThrfsTer?)
c.4089_4090del (p.Gln1364ThrfsTer?)
c.3378_3379del (p.Gln1127ThrfsTer?)
c.3597+1090_3597+1091del (n.3597+1090_3597+1091del)
c.3547+1629_3547+1630del (n.3547+1629_3547+1630del)
c.3315_3316del (p.Gln1106ThrfsTer?)
c.3282_3283del (p.Gln1095ThrfsTer?)
c.3495_3496del (p.Gln1166ThrfsTer?)
 dbSNP
Xg.53234694G>ACA413139898IQSEC2c.4151C>T (p.Pro1384Leu)
c.1453+1089C>T
c.962+1089C>T
c.316+1628C>T (n.316+1628C>T)
c.514+1628C>T (n.514+1628C>T)
c.*477C>T (n.*477C>T)
c.3992C>T (p.Pro1331Leu)
c.3962C>T (p.Pro1321Leu)
c.4088C>T (p.Pro1363Leu)
c.3377C>T (p.Pro1126Leu)
c.3597+1089C>T (n.3597+1089C>T)
c.3547+1628C>T (n.3547+1628C>T)
c.3314C>T (p.Pro1105Leu)
c.3281C>T (p.Pro1094Leu)
c.3494C>T (p.Pro1165Leu)
Xg.53234694G>CCA413139900IQSEC2c.4151C>G (p.Pro1384Arg)
c.1453+1089C>G
c.962+1089C>G
c.316+1628C>G (n.316+1628C>G)
c.514+1628C>G (n.514+1628C>G)
c.*477C>G (n.*477C>G)
c.3992C>G (p.Pro1331Arg)
c.3962C>G (p.Pro1321Arg)
c.4088C>G (p.Pro1363Arg)
c.3377C>G (p.Pro1126Arg)
c.3597+1089C>G (n.3597+1089C>G)
c.3547+1628C>G (n.3547+1628C>G)
c.3314C>G (p.Pro1105Arg)
c.3281C>G (p.Pro1094Arg)
c.3494C>G (p.Pro1165Arg)
Xg.53234694G>TCA413139902IQSEC2c.4151C>A (p.Pro1384His)
c.1453+1089C>A
c.962+1089C>A
c.316+1628C>A (n.316+1628C>A)
c.514+1628C>A (n.514+1628C>A)
c.*477C>A (n.*477C>A)
c.3992C>A (p.Pro1331His)
c.3962C>A (p.Pro1321His)
c.4088C>A (p.Pro1363His)
c.3377C>A (p.Pro1126His)
c.3597+1089C>A (n.3597+1089C>A)
c.3547+1628C>A (n.3547+1628C>A)
c.3314C>A (p.Pro1105His)
c.3281C>A (p.Pro1094His)
c.3494C>A (p.Pro1165His)
 gnomAD v4
Xg.53234695G>ACA413139904IQSEC2c.4150C>T (p.Pro1384Ser)
c.1453+1088C>T
c.962+1088C>T
c.316+1627C>T (n.316+1627C>T)
c.514+1627C>T (n.514+1627C>T)
c.*476C>T (n.*476C>T)
c.3991C>T (p.Pro1331Ser)
c.3961C>T (p.Pro1321Ser)
c.4087C>T (p.Pro1363Ser)
c.3376C>T (p.Pro1126Ser)
c.3597+1088C>T (n.3597+1088C>T)
c.3547+1627C>T (n.3547+1627C>T)
c.3313C>T (p.Pro1105Ser)
c.3280C>T (p.Pro1094Ser)
c.3493C>T (p.Pro1165Ser)
 gnomAD v4
Xg.53234695G>CCA413139905IQSEC2c.4150C>G (p.Pro1384Ala)
c.1453+1088C>G
c.962+1088C>G
c.316+1627C>G (n.316+1627C>G)
c.514+1627C>G (n.514+1627C>G)
c.*476C>G (n.*476C>G)
c.3991C>G (p.Pro1331Ala)
c.3961C>G (p.Pro1321Ala)
c.4087C>G (p.Pro1363Ala)
c.3376C>G (p.Pro1126Ala)
c.3597+1088C>G (n.3597+1088C>G)
c.3547+1627C>G (n.3547+1627C>G)
c.3313C>G (p.Pro1105Ala)
c.3280C>G (p.Pro1094Ala)
c.3493C>G (p.Pro1165Ala)
Xg.53234695G>TCA413139906IQSEC2c.4150C>A (p.Pro1384Thr)
c.1453+1088C>A
c.962+1088C>A
c.316+1627C>A (n.316+1627C>A)
c.514+1627C>A (n.514+1627C>A)
c.*476C>A (n.*476C>A)
c.3991C>A (p.Pro1331Thr)
c.3961C>A (p.Pro1321Thr)
c.4087C>A (p.Pro1363Thr)
c.3376C>A (p.Pro1126Thr)
c.3597+1088C>A (n.3597+1088C>A)
c.3547+1627C>A (n.3547+1627C>A)
c.3313C>A (p.Pro1105Thr)
c.3280C>A (p.Pro1094Thr)
c.3493C>A (p.Pro1165Thr)
Xg.53234696C>ACA516673480IQSEC2c.4149G>T (p.Gly1383=)
c.1453+1087G>T
c.962+1087G>T
c.316+1626G>T (n.316+1626G>T)
c.514+1626G>T (n.514+1626G>T)
c.*475G>T (n.*475G>T)
c.3990G>T (p.Gly1330=)
c.3960G>T (p.Gly1320=)
c.4086G>T (p.Gly1362=)
c.3375G>T (p.Gly1125=)
c.3597+1087G>T (n.3597+1087G>T)
c.3547+1626G>T (n.3547+1626G>T)
c.3312G>T (p.Gly1104=)
c.3279G>T (p.Gly1093=)
c.3492G>T (p.Gly1164=)
 gnomAD v4
Xg.53234696C=CA2429770559IQSEC2c.4149G= (p.Gly1383=)
c.1453+1087G=
c.962+1087G=
c.316+1626G= (n.316+1626G=)
c.514+1626G= (n.514+1626G=)
c.*475G= (n.*475G=)
c.3990G= (p.Gly1330=)
c.3960G= (p.Gly1320=)
c.4086G= (p.Gly1362=)
c.3375G= (p.Gly1125=)
c.3597+1087G= (n.3597+1087G=)
c.3547+1626G= (n.3547+1626G=)
c.3312G= (p.Gly1104=)
c.3279G= (p.Gly1093=)
c.3492G= (p.Gly1164=)
Xg.53234696C>GCA516673482IQSEC2c.4149G>C (p.Gly1383=)
c.1453+1087G>C
c.962+1087G>C
c.316+1626G>C (n.316+1626G>C)
c.514+1626G>C (n.514+1626G>C)
c.*475G>C (n.*475G>C)
c.3990G>C (p.Gly1330=)
c.3960G>C (p.Gly1320=)
c.4086G>C (p.Gly1362=)
c.3375G>C (p.Gly1125=)
c.3597+1087G>C (n.3597+1087G>C)
c.3547+1626G>C (n.3547+1626G>C)
c.3312G>C (p.Gly1104=)
c.3279G>C (p.Gly1093=)
c.3492G>C (p.Gly1164=)
Xg.53234696C>TCA231180IQSEC2c.4149G>A (p.Gly1383=)
c.1453+1087G>A
c.962+1087G>A
c.316+1626G>A (n.316+1626G>A)
c.514+1626G>A (n.514+1626G>A)
c.*475G>A (n.*475G>A)
c.3990G>A (p.Gly1330=)
c.3960G>A (p.Gly1320=)
c.4086G>A (p.Gly1362=)
c.3375G>A (p.Gly1125=)
c.3597+1087G>A (n.3597+1087G>A)
c.3547+1626G>A (n.3547+1626G>A)
c.3312G>A (p.Gly1104=)
c.3279G>A (p.Gly1093=)
c.3492G>A (p.Gly1164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234697C>ACA413139909IQSEC2c.4148G>T (p.Gly1383Val)
c.1453+1086G>T
c.962+1086G>T
c.316+1625G>T (n.316+1625G>T)
c.514+1625G>T (n.514+1625G>T)
c.*474G>T (n.*474G>T)
c.3989G>T (p.Gly1330Val)
c.3959G>T (p.Gly1320Val)
c.4085G>T (p.Gly1362Val)
c.3374G>T (p.Gly1125Val)
c.3597+1086G>T (n.3597+1086G>T)
c.3547+1625G>T (n.3547+1625G>T)
c.3311G>T (p.Gly1104Val)
c.3278G>T (p.Gly1093Val)
c.3491G>T (p.Gly1164Val)
Xg.53234697C>GCA413139911IQSEC2c.4148G>C (p.Gly1383Ala)
c.1453+1086G>C
c.962+1086G>C
c.316+1625G>C (n.316+1625G>C)
c.514+1625G>C (n.514+1625G>C)
c.*474G>C (n.*474G>C)
c.3989G>C (p.Gly1330Ala)
c.3959G>C (p.Gly1320Ala)
c.4085G>C (p.Gly1362Ala)
c.3374G>C (p.Gly1125Ala)
c.3597+1086G>C (n.3597+1086G>C)
c.3547+1625G>C (n.3547+1625G>C)
c.3311G>C (p.Gly1104Ala)
c.3278G>C (p.Gly1093Ala)
c.3491G>C (p.Gly1164Ala)
Xg.53234697C>TCA413139912IQSEC2c.4148G>A (p.Gly1383Glu)
c.1453+1086G>A
c.962+1086G>A
c.316+1625G>A (n.316+1625G>A)
c.514+1625G>A (n.514+1625G>A)
c.*474G>A (n.*474G>A)
c.3989G>A (p.Gly1330Glu)
c.3959G>A (p.Gly1320Glu)
c.4085G>A (p.Gly1362Glu)
c.3374G>A (p.Gly1125Glu)
c.3597+1086G>A (n.3597+1086G>A)
c.3547+1625G>A (n.3547+1625G>A)
c.3311G>A (p.Gly1104Glu)
c.3278G>A (p.Gly1093Glu)
c.3491G>A (p.Gly1164Glu)
Xg.53234698C>ACA413139915IQSEC2c.4147G>T (p.Gly1383Trp)
c.1453+1085G>T
c.962+1085G>T
c.316+1624G>T (n.316+1624G>T)
c.514+1624G>T (n.514+1624G>T)
c.*473G>T (n.*473G>T)
c.3988G>T (p.Gly1330Trp)
c.3958G>T (p.Gly1320Trp)
c.4084G>T (p.Gly1362Trp)
c.3373G>T (p.Gly1125Trp)
c.3597+1085G>T (n.3597+1085G>T)
c.3547+1624G>T (n.3547+1624G>T)
c.3310G>T (p.Gly1104Trp)
c.3277G>T (p.Gly1093Trp)
c.3490G>T (p.Gly1164Trp)
 gnomAD v4
Xg.53234698C>GCA413139916IQSEC2c.4147G>C (p.Gly1383Arg)
c.1453+1085G>C
c.962+1085G>C
c.316+1624G>C (n.316+1624G>C)
c.514+1624G>C (n.514+1624G>C)
c.*473G>C (n.*473G>C)
c.3988G>C (p.Gly1330Arg)
c.3958G>C (p.Gly1320Arg)
c.4084G>C (p.Gly1362Arg)
c.3373G>C (p.Gly1125Arg)
c.3597+1085G>C (n.3597+1085G>C)
c.3547+1624G>C (n.3547+1624G>C)
c.3310G>C (p.Gly1104Arg)
c.3277G>C (p.Gly1093Arg)
c.3490G>C (p.Gly1164Arg)
Xg.53234698C>TCA413139918IQSEC2c.4147G>A (p.Gly1383Arg)
c.1453+1085G>A
c.962+1085G>A
c.316+1624G>A (n.316+1624G>A)
c.514+1624G>A (n.514+1624G>A)
c.*473G>A (n.*473G>A)
c.3988G>A (p.Gly1330Arg)
c.3958G>A (p.Gly1320Arg)
c.4084G>A (p.Gly1362Arg)
c.3373G>A (p.Gly1125Arg)
c.3597+1085G>A (n.3597+1085G>A)
c.3547+1624G>A (n.3547+1624G>A)
c.3310G>A (p.Gly1104Arg)
c.3277G>A (p.Gly1093Arg)
c.3490G>A (p.Gly1164Arg)
Xg.53234699T>ACA516673487IQSEC2c.4146A>T (p.Pro1382=)
c.1453+1084A>T
c.962+1084A>T
c.316+1623A>T (n.316+1623A>T)
c.514+1623A>T (n.514+1623A>T)
c.*472A>T (n.*472A>T)
c.3987A>T (p.Pro1329=)
c.3957A>T (p.Pro1319=)
c.4083A>T (p.Pro1361=)
c.3372A>T (p.Pro1124=)
c.3597+1084A>T (n.3597+1084A>T)
c.3547+1623A>T (n.3547+1623A>T)
c.3309A>T (p.Pro1103=)
c.3276A>T (p.Pro1092=)
c.3489A>T (p.Pro1163=)
 gnomAD v4
Xg.53234699T>CCA516673485IQSEC2c.4146A>G (p.Pro1382=)
c.1453+1084A>G
c.962+1084A>G
c.316+1623A>G (n.316+1623A>G)
c.514+1623A>G (n.514+1623A>G)
c.*472A>G (n.*472A>G)
c.3987A>G (p.Pro1329=)
c.3957A>G (p.Pro1319=)
c.4083A>G (p.Pro1361=)
c.3372A>G (p.Pro1124=)
c.3597+1084A>G (n.3597+1084A>G)
c.3547+1623A>G (n.3547+1623A>G)
c.3309A>G (p.Pro1103=)
c.3276A>G (p.Pro1092=)
c.3489A>G (p.Pro1163=)
 gnomAD v4
Xg.53234699T>GCA516673489IQSEC2c.4146A>C (p.Pro1382=)
c.1453+1084A>C
c.962+1084A>C
c.316+1623A>C (n.316+1623A>C)
c.514+1623A>C (n.514+1623A>C)
c.*472A>C (n.*472A>C)
c.3987A>C (p.Pro1329=)
c.3957A>C (p.Pro1319=)
c.4083A>C (p.Pro1361=)
c.3372A>C (p.Pro1124=)
c.3597+1084A>C (n.3597+1084A>C)
c.3547+1623A>C (n.3547+1623A>C)
c.3309A>C (p.Pro1103=)
c.3276A>C (p.Pro1092=)
c.3489A>C (p.Pro1163=)
Xg.53234700G>ACA413139919IQSEC2c.4145C>T (p.Pro1382Leu)
c.1453+1083C>T
c.962+1083C>T
c.316+1622C>T (n.316+1622C>T)
c.514+1622C>T (n.514+1622C>T)
c.*471C>T (n.*471C>T)
c.3986C>T (p.Pro1329Leu)
c.3956C>T (p.Pro1319Leu)
c.4082C>T (p.Pro1361Leu)
c.3371C>T (p.Pro1124Leu)
c.3597+1083C>T (n.3597+1083C>T)
c.3547+1622C>T (n.3547+1622C>T)
c.3308C>T (p.Pro1103Leu)
c.3275C>T (p.Pro1092Leu)
c.3488C>T (p.Pro1163Leu)
 dbSNP
Xg.53234700G>CCA413139921IQSEC2c.4145C>G (p.Pro1382Arg)
c.1453+1083C>G
c.962+1083C>G
c.316+1622C>G (n.316+1622C>G)
c.514+1622C>G (n.514+1622C>G)
c.*471C>G (n.*471C>G)
c.3986C>G (p.Pro1329Arg)
c.3956C>G (p.Pro1319Arg)
c.4082C>G (p.Pro1361Arg)
c.3371C>G (p.Pro1124Arg)
c.3597+1083C>G (n.3597+1083C>G)
c.3547+1622C>G (n.3547+1622C>G)
c.3308C>G (p.Pro1103Arg)
c.3275C>G (p.Pro1092Arg)
c.3488C>G (p.Pro1163Arg)
Xg.53234700G=CA2429770560IQSEC2c.4145C= (p.Pro1382=)
c.1453+1083C=
c.962+1083C=
c.316+1622C= (n.316+1622C=)
c.514+1622C= (n.514+1622C=)
c.*471C= (n.*471C=)
c.3986C= (p.Pro1329=)
c.3956C= (p.Pro1319=)
c.4082C= (p.Pro1361=)
c.3371C= (p.Pro1124=)
c.3597+1083C= (n.3597+1083C=)
c.3547+1622C= (n.3547+1622C=)
c.3308C= (p.Pro1103=)
c.3275C= (p.Pro1092=)
c.3488C= (p.Pro1163=)
Xg.53234700G>TCA413139923IQSEC2c.4145C>A (p.Pro1382Gln)
c.1453+1083C>A
c.962+1083C>A
c.316+1622C>A (n.316+1622C>A)
c.514+1622C>A (n.514+1622C>A)
c.*471C>A (n.*471C>A)
c.3986C>A (p.Pro1329Gln)
c.3956C>A (p.Pro1319Gln)
c.4082C>A (p.Pro1361Gln)
c.3371C>A (p.Pro1124Gln)
c.3597+1083C>A (n.3597+1083C>A)
c.3547+1622C>A (n.3547+1622C>A)
c.3308C>A (p.Pro1103Gln)
c.3275C>A (p.Pro1092Gln)
c.3488C>A (p.Pro1163Gln)
Xg.53234701G>ACA413139925IQSEC2c.4144C>T (p.Pro1382Ser)
c.1453+1082C>T
c.962+1082C>T
c.316+1621C>T (n.316+1621C>T)
c.514+1621C>T (n.514+1621C>T)
c.*470C>T (n.*470C>T)
c.3985C>T (p.Pro1329Ser)
c.3955C>T (p.Pro1319Ser)
c.4081C>T (p.Pro1361Ser)
c.3370C>T (p.Pro1124Ser)
c.3597+1082C>T (n.3597+1082C>T)
c.3547+1621C>T (n.3547+1621C>T)
c.3307C>T (p.Pro1103Ser)
c.3274C>T (p.Pro1092Ser)
c.3487C>T (p.Pro1163Ser)
 dbSNP
Xg.53234701G>CCA413139926IQSEC2c.4144C>G (p.Pro1382Ala)
c.1453+1082C>G
c.962+1082C>G
c.316+1621C>G (n.316+1621C>G)
c.514+1621C>G (n.514+1621C>G)
c.*470C>G (n.*470C>G)
c.3985C>G (p.Pro1329Ala)
c.3955C>G (p.Pro1319Ala)
c.4081C>G (p.Pro1361Ala)
c.3370C>G (p.Pro1124Ala)
c.3597+1082C>G (n.3597+1082C>G)
c.3547+1621C>G (n.3547+1621C>G)
c.3307C>G (p.Pro1103Ala)
c.3274C>G (p.Pro1092Ala)
c.3487C>G (p.Pro1163Ala)
Xg.53234701G=CA2429770561IQSEC2c.4144C= (p.Pro1382=)
c.1453+1082C=
c.962+1082C=
c.316+1621C= (n.316+1621C=)
c.514+1621C= (n.514+1621C=)
c.*470C= (n.*470C=)
c.3985C= (p.Pro1329=)
c.3955C= (p.Pro1319=)
c.4081C= (p.Pro1361=)
c.3370C= (p.Pro1124=)
c.3597+1082C= (n.3597+1082C=)
c.3547+1621C= (n.3547+1621C=)
c.3307C= (p.Pro1103=)
c.3274C= (p.Pro1092=)
c.3487C= (p.Pro1163=)
Xg.53234701G>TCA413139927IQSEC2c.4144C>A (p.Pro1382Thr)
c.1453+1082C>A
c.962+1082C>A
c.316+1621C>A (n.316+1621C>A)
c.514+1621C>A (n.514+1621C>A)
c.*470C>A (n.*470C>A)
c.3985C>A (p.Pro1329Thr)
c.3955C>A (p.Pro1319Thr)
c.4081C>A (p.Pro1361Thr)
c.3370C>A (p.Pro1124Thr)
c.3597+1082C>A (n.3597+1082C>A)
c.3547+1621C>A (n.3547+1621C>A)
c.3307C>A (p.Pro1103Thr)
c.3274C>A (p.Pro1092Thr)
c.3487C>A (p.Pro1163Thr)
Xg.53234702G>ACA516673491IQSEC2c.4143C>T (p.Val1381=)
c.1453+1081C>T
c.962+1081C>T
c.316+1620C>T (n.316+1620C>T)
c.514+1620C>T (n.514+1620C>T)
c.*469C>T (n.*469C>T)
c.3984C>T (p.Val1328=)
c.3954C>T (p.Val1318=)
c.4080C>T (p.Val1360=)
c.3369C>T (p.Val1123=)
c.3597+1081C>T (n.3597+1081C>T)
c.3547+1620C>T (n.3547+1620C>T)
c.3306C>T (p.Val1102=)
c.3273C>T (p.Val1091=)
c.3486C>T (p.Val1162=)
 gnomAD v4
Xg.53234702G>CCA516673493IQSEC2c.4143C>G (p.Val1381=)
c.1453+1081C>G
c.962+1081C>G
c.316+1620C>G (n.316+1620C>G)
c.514+1620C>G (n.514+1620C>G)
c.*469C>G (n.*469C>G)
c.3984C>G (p.Val1328=)
c.3954C>G (p.Val1318=)
c.4080C>G (p.Val1360=)
c.3369C>G (p.Val1123=)
c.3597+1081C>G (n.3597+1081C>G)
c.3547+1620C>G (n.3547+1620C>G)
c.3306C>G (p.Val1102=)
c.3273C>G (p.Val1091=)
c.3486C>G (p.Val1162=)
Xg.53234702G=CA2429770562IQSEC2c.4143C= (p.Val1381=)
c.1453+1081C=
c.962+1081C=
c.316+1620C= (n.316+1620C=)
c.514+1620C= (n.514+1620C=)
c.*469C= (n.*469C=)
c.3984C= (p.Val1328=)
c.3954C= (p.Val1318=)
c.4080C= (p.Val1360=)
c.3369C= (p.Val1123=)
c.3597+1081C= (n.3597+1081C=)
c.3547+1620C= (n.3547+1620C=)
c.3306C= (p.Val1102=)
c.3273C= (p.Val1091=)
c.3486C= (p.Val1162=)
Xg.53234702G>TCA516673495IQSEC2c.4143C>A (p.Val1381=)
c.1453+1081C>A
c.962+1081C>A
c.316+1620C>A (n.316+1620C>A)
c.514+1620C>A (n.514+1620C>A)
c.*469C>A (n.*469C>A)
c.3984C>A (p.Val1328=)
c.3954C>A (p.Val1318=)
c.4080C>A (p.Val1360=)
c.3369C>A (p.Val1123=)
c.3597+1081C>A (n.3597+1081C>A)
c.3547+1620C>A (n.3547+1620C>A)
c.3306C>A (p.Val1102=)
c.3273C>A (p.Val1091=)
c.3486C>A (p.Val1162=)
 gnomAD v4
Xg.53234702_53234703insCACTTCATCTTCAGCCACCACCCCA2429770563IQSEC2c.4142_4143insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1382GlyfsTer4)
c.1453+1080_1453+1081insGGGTGGTGGCTGAAGATGAAGTG
c.962+1080_962+1081insGGGTGGTGGCTGAAGATGAAGTG
c.316+1619_316+1620insGGGTGGTGGCTGAAGATGAAGTG (n.316+1619_316+1620insGGGTGGTGGCTGAAGATGAAGTG)
c.514+1619_514+1620insGGGTGGTGGCTGAAGATGAAGTG (n.514+1619_514+1620insGGGTGGTGGCTGAAGATGAAGTG)
c.*468_*469insGGGTGGTGGCTGAAGATGAAGTG (n.*468_*469insGGGTGGTGGCTGAAGATGAAGTG)
c.3983_3984insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1329GlyfsTer4)
c.3953_3954insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1319GlyfsTer4)
c.4079_4080insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1361GlyfsTer4)
c.3368_3369insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1124GlyfsTer4)
c.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGTG (n.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGTG)
c.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGTG (n.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGTG)
c.3305_3306insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1103GlyfsTer4)
c.3272_3273insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1092GlyfsTer4)
c.3485_3486insGGGTGGTGGCTGAAGATGAAGTG (p.Pro1163GlyfsTer4)
 dbSNP
Xg.53234703A>CCA413139928IQSEC2c.4142T>G (p.Val1381Gly)
c.1453+1080T>G
c.962+1080T>G
c.316+1619T>G (n.316+1619T>G)
c.514+1619T>G (n.514+1619T>G)
c.*468T>G (n.*468T>G)
c.3983T>G (p.Val1328Gly)
c.3953T>G (p.Val1318Gly)
c.4079T>G (p.Val1360Gly)
c.3368T>G (p.Val1123Gly)
c.3597+1080T>G (n.3597+1080T>G)
c.3547+1619T>G (n.3547+1619T>G)
c.3305T>G (p.Val1102Gly)
c.3272T>G (p.Val1091Gly)
c.3485T>G (p.Val1162Gly)
Xg.53234703A>GCA413139930IQSEC2c.4142T>C (p.Val1381Ala)
c.1453+1080T>C
c.962+1080T>C
c.316+1619T>C (n.316+1619T>C)
c.514+1619T>C (n.514+1619T>C)
c.*468T>C (n.*468T>C)
c.3983T>C (p.Val1328Ala)
c.3953T>C (p.Val1318Ala)
c.4079T>C (p.Val1360Ala)
c.3368T>C (p.Val1123Ala)
c.3597+1080T>C (n.3597+1080T>C)
c.3547+1619T>C (n.3547+1619T>C)
c.3305T>C (p.Val1102Ala)
c.3272T>C (p.Val1091Ala)
c.3485T>C (p.Val1162Ala)
Xg.53234703A>TCA413139929IQSEC2c.4142T>A (p.Val1381Asp)
c.1453+1080T>A
c.962+1080T>A
c.316+1619T>A (n.316+1619T>A)
c.514+1619T>A (n.514+1619T>A)
c.*468T>A (n.*468T>A)
c.3983T>A (p.Val1328Asp)
c.3953T>A (p.Val1318Asp)
c.4079T>A (p.Val1360Asp)
c.3368T>A (p.Val1123Asp)
c.3597+1080T>A (n.3597+1080T>A)
c.3547+1619T>A (n.3547+1619T>A)
c.3305T>A (p.Val1102Asp)
c.3272T>A (p.Val1091Asp)
c.3485T>A (p.Val1162Asp)
Xg.53234704C>ACA413139933IQSEC2c.4141G>T (p.Val1381Phe)
c.1453+1079G>T
c.962+1079G>T
c.316+1618G>T (n.316+1618G>T)
c.514+1618G>T (n.514+1618G>T)
c.*467G>T (n.*467G>T)
c.3982G>T (p.Val1328Phe)
c.3952G>T (p.Val1318Phe)
c.4078G>T (p.Val1360Phe)
c.3367G>T (p.Val1123Phe)
c.3597+1079G>T (n.3597+1079G>T)
c.3547+1618G>T (n.3547+1618G>T)
c.3304G>T (p.Val1102Phe)
c.3271G>T (p.Val1091Phe)
c.3484G>T (p.Val1162Phe)
Xg.53234704C>GCA413139935IQSEC2c.4141G>C (p.Val1381Leu)
c.1453+1079G>C
c.962+1079G>C
c.316+1618G>C (n.316+1618G>C)
c.514+1618G>C (n.514+1618G>C)
c.*467G>C (n.*467G>C)
c.3982G>C (p.Val1328Leu)
c.3952G>C (p.Val1318Leu)
c.4078G>C (p.Val1360Leu)
c.3367G>C (p.Val1123Leu)
c.3597+1079G>C (n.3597+1079G>C)
c.3547+1618G>C (n.3547+1618G>C)
c.3304G>C (p.Val1102Leu)
c.3271G>C (p.Val1091Leu)
c.3484G>C (p.Val1162Leu)
Xg.53234704C>TCA413139934IQSEC2c.4141G>A (p.Val1381Ile)
c.1453+1079G>A
c.962+1079G>A
c.316+1618G>A (n.316+1618G>A)
c.514+1618G>A (n.514+1618G>A)
c.*467G>A (n.*467G>A)
c.3982G>A (p.Val1328Ile)
c.3952G>A (p.Val1318Ile)
c.4078G>A (p.Val1360Ile)
c.3367G>A (p.Val1123Ile)
c.3597+1079G>A (n.3597+1079G>A)
c.3547+1618G>A (n.3547+1618G>A)
c.3304G>A (p.Val1102Ile)
c.3271G>A (p.Val1091Ile)
c.3484G>A (p.Val1162Ile)
 gnomAD v4
Xg.53234705T>ACA516673497IQSEC2c.4140A>T (p.Pro1380=)
c.1453+1078A>T
c.962+1078A>T
c.316+1617A>T (n.316+1617A>T)
c.514+1617A>T (n.514+1617A>T)
c.*466A>T (n.*466A>T)
c.3981A>T (p.Pro1327=)
c.3951A>T (p.Pro1317=)
c.4077A>T (p.Pro1359=)
c.3366A>T (p.Pro1122=)
c.3597+1078A>T (n.3597+1078A>T)
c.3547+1617A>T (n.3547+1617A>T)
c.3303A>T (p.Pro1101=)
c.3270A>T (p.Pro1090=)
c.3483A>T (p.Pro1161=)
Xg.53234705T>CCA516673500IQSEC2c.4140A>G (p.Pro1380=)
c.1453+1078A>G
c.962+1078A>G
c.316+1617A>G (n.316+1617A>G)
c.514+1617A>G (n.514+1617A>G)
c.*466A>G (n.*466A>G)
c.3981A>G (p.Pro1327=)
c.3951A>G (p.Pro1317=)
c.4077A>G (p.Pro1359=)
c.3366A>G (p.Pro1122=)
c.3597+1078A>G (n.3597+1078A>G)
c.3547+1617A>G (n.3547+1617A>G)
c.3303A>G (p.Pro1101=)
c.3270A>G (p.Pro1090=)
c.3483A>G (p.Pro1161=)
 gnomAD v4
Xg.53234705T>GCA516673498IQSEC2c.4140A>C (p.Pro1380=)
c.1453+1078A>C
c.962+1078A>C
c.316+1617A>C (n.316+1617A>C)
c.514+1617A>C (n.514+1617A>C)
c.*466A>C (n.*466A>C)
c.3981A>C (p.Pro1327=)
c.3951A>C (p.Pro1317=)
c.4077A>C (p.Pro1359=)
c.3366A>C (p.Pro1122=)
c.3597+1078A>C (n.3597+1078A>C)
c.3547+1617A>C (n.3547+1617A>C)
c.3303A>C (p.Pro1101=)
c.3270A>C (p.Pro1090=)
c.3483A>C (p.Pro1161=)
Xg.53234706G>ACA413139937IQSEC2c.4139C>T (p.Pro1380Leu)
c.1453+1077C>T
c.962+1077C>T
c.316+1616C>T (n.316+1616C>T)
c.514+1616C>T (n.514+1616C>T)
c.*465C>T (n.*465C>T)
c.3980C>T (p.Pro1327Leu)
c.3950C>T (p.Pro1317Leu)
c.4076C>T (p.Pro1359Leu)
c.3365C>T (p.Pro1122Leu)
c.3597+1077C>T (n.3597+1077C>T)
c.3547+1616C>T (n.3547+1616C>T)
c.3302C>T (p.Pro1101Leu)
c.3269C>T (p.Pro1090Leu)
c.3482C>T (p.Pro1161Leu)
 gnomAD v4
Xg.53234706G>CCA413139939IQSEC2c.4139C>G (p.Pro1380Arg)
c.1453+1077C>G
c.962+1077C>G
c.316+1616C>G (n.316+1616C>G)
c.514+1616C>G (n.514+1616C>G)
c.*465C>G (n.*465C>G)
c.3980C>G (p.Pro1327Arg)
c.3950C>G (p.Pro1317Arg)
c.4076C>G (p.Pro1359Arg)
c.3365C>G (p.Pro1122Arg)
c.3597+1077C>G (n.3597+1077C>G)
c.3547+1616C>G (n.3547+1616C>G)
c.3302C>G (p.Pro1101Arg)
c.3269C>G (p.Pro1090Arg)
c.3482C>G (p.Pro1161Arg)
Xg.53234706G>TCA413139941IQSEC2c.4139C>A (p.Pro1380Gln)
c.1453+1077C>A
c.962+1077C>A
c.316+1616C>A (n.316+1616C>A)
c.514+1616C>A (n.514+1616C>A)
c.*465C>A (n.*465C>A)
c.3980C>A (p.Pro1327Gln)
c.3950C>A (p.Pro1317Gln)
c.4076C>A (p.Pro1359Gln)
c.3365C>A (p.Pro1122Gln)
c.3597+1077C>A (n.3597+1077C>A)
c.3547+1616C>A (n.3547+1616C>A)
c.3302C>A (p.Pro1101Gln)
c.3269C>A (p.Pro1090Gln)
c.3482C>A (p.Pro1161Gln)
 gnomAD v4
Xg.53234708delCA2693794284IQSEC2c.4139del (p.Pro1380GlnfsTer?)
c.1453+1077del
c.962+1077del
c.316+1616del (n.316+1616del)
c.514+1616del (n.514+1616del)
c.*465del (n.*465del)
c.3980del (p.Pro1327GlnfsTer?)
c.3950del (p.Pro1317GlnfsTer?)
c.4076del (p.Pro1359GlnfsTer?)
c.3365del (p.Pro1122GlnfsTer?)
c.3597+1077del (n.3597+1077del)
c.3547+1616del (n.3547+1616del)
c.3302del (p.Pro1101GlnfsTer?)
c.3269del (p.Pro1090GlnfsTer?)
c.3482del (p.Pro1161GlnfsTer?)
 gnomAD v4
Xg.53234707G>ACA413139942IQSEC2c.4138C>T (p.Pro1380Ser)
c.1453+1076C>T
c.962+1076C>T
c.316+1615C>T (n.316+1615C>T)
c.514+1615C>T (n.514+1615C>T)
c.*464C>T (n.*464C>T)
c.3979C>T (p.Pro1327Ser)
c.3949C>T (p.Pro1317Ser)
c.4075C>T (p.Pro1359Ser)
c.3364C>T (p.Pro1122Ser)
c.3597+1076C>T (n.3597+1076C>T)
c.3547+1615C>T (n.3547+1615C>T)
c.3301C>T (p.Pro1101Ser)
c.3268C>T (p.Pro1090Ser)
c.3481C>T (p.Pro1161Ser)
Xg.53234707G>CCA413139944IQSEC2c.4138C>G (p.Pro1380Ala)
c.1453+1076C>G
c.962+1076C>G
c.316+1615C>G (n.316+1615C>G)
c.514+1615C>G (n.514+1615C>G)
c.*464C>G (n.*464C>G)
c.3979C>G (p.Pro1327Ala)
c.3949C>G (p.Pro1317Ala)
c.4075C>G (p.Pro1359Ala)
c.3364C>G (p.Pro1122Ala)
c.3597+1076C>G (n.3597+1076C>G)
c.3547+1615C>G (n.3547+1615C>G)
c.3301C>G (p.Pro1101Ala)
c.3268C>G (p.Pro1090Ala)
c.3481C>G (p.Pro1161Ala)
Xg.53234707G>TCA413139946IQSEC2c.4138C>A (p.Pro1380Thr)
c.1453+1076C>A
c.962+1076C>A
c.316+1615C>A (n.316+1615C>A)
c.514+1615C>A (n.514+1615C>A)
c.*464C>A (n.*464C>A)
c.3979C>A (p.Pro1327Thr)
c.3949C>A (p.Pro1317Thr)
c.4075C>A (p.Pro1359Thr)
c.3364C>A (p.Pro1122Thr)
c.3597+1076C>A (n.3597+1076C>A)
c.3547+1615C>A (n.3547+1615C>A)
c.3301C>A (p.Pro1101Thr)
c.3268C>A (p.Pro1090Thr)
c.3481C>A (p.Pro1161Thr)
Xg.53234708G>ACA516673501IQSEC2c.4137C>T (p.Gly1379=)
c.1453+1075C>T
c.962+1075C>T
c.316+1614C>T (n.316+1614C>T)
c.514+1614C>T (n.514+1614C>T)
c.*463C>T (n.*463C>T)
c.3978C>T (p.Gly1326=)
c.3948C>T (p.Gly1316=)
c.4074C>T (p.Gly1358=)
c.3363C>T (p.Gly1121=)
c.3597+1075C>T (n.3597+1075C>T)
c.3547+1614C>T (n.3547+1614C>T)
c.3300C>T (p.Gly1100=)
c.3267C>T (p.Gly1089=)
c.3480C>T (p.Gly1160=)
 dbSNP gnomAD v4
Xg.53234708G>CCA516673502IQSEC2c.4137C>G (p.Gly1379=)
c.1453+1075C>G
c.962+1075C>G
c.316+1614C>G (n.316+1614C>G)
c.514+1614C>G (n.514+1614C>G)
c.*463C>G (n.*463C>G)
c.3978C>G (p.Gly1326=)
c.3948C>G (p.Gly1316=)
c.4074C>G (p.Gly1358=)
c.3363C>G (p.Gly1121=)
c.3597+1075C>G (n.3597+1075C>G)
c.3547+1614C>G (n.3547+1614C>G)
c.3300C>G (p.Gly1100=)
c.3267C>G (p.Gly1089=)
c.3480C>G (p.Gly1160=)
Xg.53234708G=CA2429770564IQSEC2c.4137C= (p.Gly1379=)
c.1453+1075C=
c.962+1075C=
c.316+1614C= (n.316+1614C=)
c.514+1614C= (n.514+1614C=)
c.*463C= (n.*463C=)
c.3978C= (p.Gly1326=)
c.3948C= (p.Gly1316=)
c.4074C= (p.Gly1358=)
c.3363C= (p.Gly1121=)
c.3597+1075C= (n.3597+1075C=)
c.3547+1614C= (n.3547+1614C=)
c.3300C= (p.Gly1100=)
c.3267C= (p.Gly1089=)
c.3480C= (p.Gly1160=)
Xg.53234708G>TCA516673504IQSEC2c.4137C>A (p.Gly1379=)
c.1453+1075C>A
c.962+1075C>A
c.316+1614C>A (n.316+1614C>A)
c.514+1614C>A (n.514+1614C>A)
c.*463C>A (n.*463C>A)
c.3978C>A (p.Gly1326=)
c.3948C>A (p.Gly1316=)
c.4074C>A (p.Gly1358=)
c.3363C>A (p.Gly1121=)
c.3597+1075C>A (n.3597+1075C>A)
c.3547+1614C>A (n.3547+1614C>A)
c.3300C>A (p.Gly1100=)
c.3267C>A (p.Gly1089=)
c.3480C>A (p.Gly1160=)
 gnomAD v4
Xg.53234709C>ACA413139948IQSEC2c.4136G>T (p.Gly1379Val)
c.1453+1074G>T
c.962+1074G>T
c.316+1613G>T (n.316+1613G>T)
c.514+1613G>T (n.514+1613G>T)
c.*462G>T (n.*462G>T)
c.3977G>T (p.Gly1326Val)
c.3947G>T (p.Gly1316Val)
c.4073G>T (p.Gly1358Val)
c.3362G>T (p.Gly1121Val)
c.3597+1074G>T (n.3597+1074G>T)
c.3547+1613G>T (n.3547+1613G>T)
c.3299G>T (p.Gly1100Val)
c.3266G>T (p.Gly1089Val)
c.3479G>T (p.Gly1160Val)
 gnomAD v4
Xg.53234709C>GCA413139949IQSEC2c.4136G>C (p.Gly1379Ala)
c.1453+1074G>C
c.962+1074G>C
c.316+1613G>C (n.316+1613G>C)
c.514+1613G>C (n.514+1613G>C)
c.*462G>C (n.*462G>C)
c.3977G>C (p.Gly1326Ala)
c.3947G>C (p.Gly1316Ala)
c.4073G>C (p.Gly1358Ala)
c.3362G>C (p.Gly1121Ala)
c.3597+1074G>C (n.3597+1074G>C)
c.3547+1613G>C (n.3547+1613G>C)
c.3299G>C (p.Gly1100Ala)
c.3266G>C (p.Gly1089Ala)
c.3479G>C (p.Gly1160Ala)
Xg.53234709C>TCA413139950IQSEC2c.4136G>A (p.Gly1379Asp)
c.1453+1074G>A
c.962+1074G>A
c.316+1613G>A (n.316+1613G>A)
c.514+1613G>A (n.514+1613G>A)
c.*462G>A (n.*462G>A)
c.3977G>A (p.Gly1326Asp)
c.3947G>A (p.Gly1316Asp)
c.4073G>A (p.Gly1358Asp)
c.3362G>A (p.Gly1121Asp)
c.3597+1074G>A (n.3597+1074G>A)
c.3547+1613G>A (n.3547+1613G>A)
c.3299G>A (p.Gly1100Asp)
c.3266G>A (p.Gly1089Asp)
c.3479G>A (p.Gly1160Asp)
 gnomAD v4
Xg.53234710delCA2739290486IQSEC2c.4136del (p.Gly1379AlafsTer?)
c.1453+1074del
c.962+1074del
c.316+1613del (n.316+1613del)
c.514+1613del (n.514+1613del)
c.*462del (n.*462del)
c.3977del (p.Gly1326AlafsTer?)
c.3947del (p.Gly1316AlafsTer?)
c.4073del (p.Gly1358AlafsTer?)
c.3362del (p.Gly1121AlafsTer?)
c.3597+1074del (n.3597+1074del)
c.3547+1613del (n.3547+1613del)
c.3299del (p.Gly1100AlafsTer?)
c.3266del (p.Gly1089AlafsTer?)
c.3479del (p.Gly1160AlafsTer?)
Xg.53234710C>ACA413139952IQSEC2c.4135G>T (p.Gly1379Cys)
c.1453+1073G>T
c.962+1073G>T
c.316+1612G>T (n.316+1612G>T)
c.514+1612G>T (n.514+1612G>T)
c.*461G>T (n.*461G>T)
c.3976G>T (p.Gly1326Cys)
c.3946G>T (p.Gly1316Cys)
c.4072G>T (p.Gly1358Cys)
c.3361G>T (p.Gly1121Cys)
c.3597+1073G>T (n.3597+1073G>T)
c.3547+1612G>T (n.3547+1612G>T)
c.3298G>T (p.Gly1100Cys)
c.3265G>T (p.Gly1089Cys)
c.3478G>T (p.Gly1160Cys)
 gnomAD v4
Xg.53234710C>GCA413139954IQSEC2c.4135G>C (p.Gly1379Arg)
c.1453+1073G>C
c.962+1073G>C
c.316+1612G>C (n.316+1612G>C)
c.514+1612G>C (n.514+1612G>C)
c.*461G>C (n.*461G>C)
c.3976G>C (p.Gly1326Arg)
c.3946G>C (p.Gly1316Arg)
c.4072G>C (p.Gly1358Arg)
c.3361G>C (p.Gly1121Arg)
c.3597+1073G>C (n.3597+1073G>C)
c.3547+1612G>C (n.3547+1612G>C)
c.3298G>C (p.Gly1100Arg)
c.3265G>C (p.Gly1089Arg)
c.3478G>C (p.Gly1160Arg)
Xg.53234710C>TCA413139956IQSEC2c.4135G>A (p.Gly1379Ser)
c.1453+1073G>A
c.962+1073G>A
c.316+1612G>A (n.316+1612G>A)
c.514+1612G>A (n.514+1612G>A)
c.*461G>A (n.*461G>A)
c.3976G>A (p.Gly1326Ser)
c.3946G>A (p.Gly1316Ser)
c.4072G>A (p.Gly1358Ser)
c.3361G>A (p.Gly1121Ser)
c.3597+1073G>A (n.3597+1073G>A)
c.3547+1612G>A (n.3547+1612G>A)
c.3298G>A (p.Gly1100Ser)
c.3265G>A (p.Gly1089Ser)
c.3478G>A (p.Gly1160Ser)
Xg.53234711A=CA2429770565IQSEC2c.4134T= (p.His1378=)
c.1453+1072T=
c.962+1072T=
c.316+1611T= (n.316+1611T=)
c.514+1611T= (n.514+1611T=)
c.*460T= (n.*460T=)
c.3975T= (p.His1325=)
c.3945T= (p.His1315=)
c.4071T= (p.His1357=)
c.3360T= (p.His1120=)
c.3597+1072T= (n.3597+1072T=)
c.3547+1611T= (n.3547+1611T=)
c.3297T= (p.His1099=)
c.3264T= (p.His1088=)
c.3477T= (p.His1159=)
Xg.53234711A>CCA413139959IQSEC2c.4134T>G (p.His1378Gln)
c.1453+1072T>G
c.962+1072T>G
c.316+1611T>G (n.316+1611T>G)
c.514+1611T>G (n.514+1611T>G)
c.*460T>G (n.*460T>G)
c.3975T>G (p.His1325Gln)
c.3945T>G (p.His1315Gln)
c.4071T>G (p.His1357Gln)
c.3360T>G (p.His1120Gln)
c.3597+1072T>G (n.3597+1072T>G)
c.3547+1611T>G (n.3547+1611T>G)
c.3297T>G (p.His1099Gln)
c.3264T>G (p.His1088Gln)
c.3477T>G (p.His1159Gln)
Xg.53234711A>GCA516673505IQSEC2c.4134T>C (p.His1378=)
c.1453+1072T>C
c.962+1072T>C
c.316+1611T>C (n.316+1611T>C)
c.514+1611T>C (n.514+1611T>C)
c.*460T>C (n.*460T>C)
c.3975T>C (p.His1325=)
c.3945T>C (p.His1315=)
c.4071T>C (p.His1357=)
c.3360T>C (p.His1120=)
c.3597+1072T>C (n.3597+1072T>C)
c.3547+1611T>C (n.3547+1611T>C)
c.3297T>C (p.His1099=)
c.3264T>C (p.His1088=)
c.3477T>C (p.His1159=)
 dbSNP gnomAD v4
Xg.53234711A>TCA413139957IQSEC2c.4134T>A (p.His1378Gln)
c.1453+1072T>A
c.962+1072T>A
c.316+1611T>A (n.316+1611T>A)
c.514+1611T>A (n.514+1611T>A)
c.*460T>A (n.*460T>A)
c.3975T>A (p.His1325Gln)
c.3945T>A (p.His1315Gln)
c.4071T>A (p.His1357Gln)
c.3360T>A (p.His1120Gln)
c.3597+1072T>A (n.3597+1072T>A)
c.3547+1611T>A (n.3547+1611T>A)
c.3297T>A (p.His1099Gln)
c.3264T>A (p.His1088Gln)
c.3477T>A (p.His1159Gln)
Xg.53234712T>ACA413139961IQSEC2c.4133A>T (p.His1378Leu)
c.1453+1071A>T
c.962+1071A>T
c.316+1610A>T (n.316+1610A>T)
c.514+1610A>T (n.514+1610A>T)
c.*459A>T (n.*459A>T)
c.3974A>T (p.His1325Leu)
c.3944A>T (p.His1315Leu)
c.4070A>T (p.His1357Leu)
c.3359A>T (p.His1120Leu)
c.3597+1071A>T (n.3597+1071A>T)
c.3547+1610A>T (n.3547+1610A>T)
c.3296A>T (p.His1099Leu)
c.3263A>T (p.His1088Leu)
c.3476A>T (p.His1159Leu)
Xg.53234712T>CCA413139962IQSEC2c.4133A>G (p.His1378Arg)
c.1453+1071A>G
c.962+1071A>G
c.316+1610A>G (n.316+1610A>G)
c.514+1610A>G (n.514+1610A>G)
c.*459A>G (n.*459A>G)
c.3974A>G (p.His1325Arg)
c.3944A>G (p.His1315Arg)
c.4070A>G (p.His1357Arg)
c.3359A>G (p.His1120Arg)
c.3597+1071A>G (n.3597+1071A>G)
c.3547+1610A>G (n.3547+1610A>G)
c.3296A>G (p.His1099Arg)
c.3263A>G (p.His1088Arg)
c.3476A>G (p.His1159Arg)
 gnomAD v4
Xg.53234712T>GCA413139964IQSEC2c.4133A>C (p.His1378Pro)
c.1453+1071A>C
c.962+1071A>C
c.316+1610A>C (n.316+1610A>C)
c.514+1610A>C (n.514+1610A>C)
c.*459A>C (n.*459A>C)
c.3974A>C (p.His1325Pro)
c.3944A>C (p.His1315Pro)
c.4070A>C (p.His1357Pro)
c.3359A>C (p.His1120Pro)
c.3597+1071A>C (n.3597+1071A>C)
c.3547+1610A>C (n.3547+1610A>C)
c.3296A>C (p.His1099Pro)
c.3263A>C (p.His1088Pro)
c.3476A>C (p.His1159Pro)
Xg.53234713G>ACA413139966IQSEC2c.4132C>T (p.His1378Tyr)
c.1453+1070C>T
c.962+1070C>T
c.316+1609C>T (n.316+1609C>T)
c.514+1609C>T (n.514+1609C>T)
c.*458C>T (n.*458C>T)
c.3973C>T (p.His1325Tyr)
c.3943C>T (p.His1315Tyr)
c.4069C>T (p.His1357Tyr)
c.3358C>T (p.His1120Tyr)
c.3597+1070C>T (n.3597+1070C>T)
c.3547+1609C>T (n.3547+1609C>T)
c.3295C>T (p.His1099Tyr)
c.3262C>T (p.His1088Tyr)
c.3475C>T (p.His1159Tyr)
 gnomAD v4
Xg.53234713G>CCA413139967IQSEC2c.4132C>G (p.His1378Asp)
c.1453+1070C>G
c.962+1070C>G
c.316+1609C>G (n.316+1609C>G)
c.514+1609C>G (n.514+1609C>G)
c.*458C>G (n.*458C>G)
c.3973C>G (p.His1325Asp)
c.3943C>G (p.His1315Asp)
c.4069C>G (p.His1357Asp)
c.3358C>G (p.His1120Asp)
c.3597+1070C>G (n.3597+1070C>G)
c.3547+1609C>G (n.3547+1609C>G)
c.3295C>G (p.His1099Asp)
c.3262C>G (p.His1088Asp)
c.3475C>G (p.His1159Asp)
Xg.53234713G>TCA413139969IQSEC2c.4132C>A (p.His1378Asn)
c.1453+1070C>A
c.962+1070C>A
c.316+1609C>A (n.316+1609C>A)
c.514+1609C>A (n.514+1609C>A)
c.*458C>A (n.*458C>A)
c.3973C>A (p.His1325Asn)
c.3943C>A (p.His1315Asn)
c.4069C>A (p.His1357Asn)
c.3358C>A (p.His1120Asn)
c.3597+1070C>A (n.3597+1070C>A)
c.3547+1609C>A (n.3547+1609C>A)
c.3295C>A (p.His1099Asn)
c.3262C>A (p.His1088Asn)
c.3475C>A (p.His1159Asn)
Xg.53234715dupCA2580617056IQSEC2c.4132dup (p.His1378ProfsTer?)
c.1453+1070dup
c.962+1070dup
c.316+1609dup (n.316+1609dup)
c.514+1609dup (n.514+1609dup)
c.*458dup (n.*458dup)
c.3973dup (p.His1325ProfsTer?)
c.3943dup (p.His1315ProfsTer?)
c.4069dup (p.His1357ProfsTer?)
c.3358dup (p.His1120ProfsTer?)
c.3597+1070dup (n.3597+1070dup)
c.3547+1609dup (n.3547+1609dup)
c.3295dup (p.His1099ProfsTer?)
c.3262dup (p.His1088ProfsTer?)
c.3475dup (p.His1159ProfsTer?)
 ClinVar
Xg.53234715delCA2693794285IQSEC2c.4132del (p.His1378MetfsTer?)
c.1453+1070del
c.962+1070del
c.316+1609del (n.316+1609del)
c.514+1609del (n.514+1609del)
c.*458del (n.*458del)
c.3973del (p.His1325MetfsTer?)
c.3943del (p.His1315MetfsTer?)
c.4069del (p.His1357MetfsTer?)
c.3358del (p.His1120MetfsTer?)
c.3597+1070del (n.3597+1070del)
c.3547+1609del (n.3547+1609del)
c.3295del (p.His1099MetfsTer?)
c.3262del (p.His1088MetfsTer?)
c.3475del (p.His1159MetfsTer?)
 gnomAD v4
Xg.53234714G>ACA516673512IQSEC2c.4131C>T (p.Ala1377=)
c.1453+1069C>T
c.962+1069C>T
c.316+1608C>T (n.316+1608C>T)
c.514+1608C>T (n.514+1608C>T)
c.*457C>T (n.*457C>T)
c.3972C>T (p.Ala1324=)
c.3942C>T (p.Ala1314=)
c.4068C>T (p.Ala1356=)
c.3357C>T (p.Ala1119=)
c.3597+1069C>T (n.3597+1069C>T)
c.3547+1608C>T (n.3547+1608C>T)
c.3294C>T (p.Ala1098=)
c.3261C>T (p.Ala1087=)
c.3474C>T (p.Ala1158=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53234714G>CCA516673510IQSEC2c.4131C>G (p.Ala1377=)
c.1453+1069C>G
c.962+1069C>G
c.316+1608C>G (n.316+1608C>G)
c.514+1608C>G (n.514+1608C>G)
c.*457C>G (n.*457C>G)
c.3972C>G (p.Ala1324=)
c.3942C>G (p.Ala1314=)
c.4068C>G (p.Ala1356=)
c.3357C>G (p.Ala1119=)
c.3597+1069C>G (n.3597+1069C>G)
c.3547+1608C>G (n.3547+1608C>G)
c.3294C>G (p.Ala1098=)
c.3261C>G (p.Ala1087=)
c.3474C>G (p.Ala1158=)
Xg.53234714G=CA2429770566IQSEC2c.4131C= (p.Ala1377=)
c.1453+1069C=
c.962+1069C=
c.316+1608C= (n.316+1608C=)
c.514+1608C= (n.514+1608C=)
c.*457C= (n.*457C=)
c.3972C= (p.Ala1324=)
c.3942C= (p.Ala1314=)
c.4068C= (p.Ala1356=)
c.3357C= (p.Ala1119=)
c.3597+1069C= (n.3597+1069C=)
c.3547+1608C= (n.3547+1608C=)
c.3294C= (p.Ala1098=)
c.3261C= (p.Ala1087=)
c.3474C= (p.Ala1158=)
Xg.53234714G>TCA516673511IQSEC2c.4131C>A (p.Ala1377=)
c.1453+1069C>A
c.962+1069C>A
c.316+1608C>A (n.316+1608C>A)
c.514+1608C>A (n.514+1608C>A)
c.*457C>A (n.*457C>A)
c.3972C>A (p.Ala1324=)
c.3942C>A (p.Ala1314=)
c.4068C>A (p.Ala1356=)
c.3357C>A (p.Ala1119=)
c.3597+1069C>A (n.3597+1069C>A)
c.3547+1608C>A (n.3547+1608C>A)
c.3294C>A (p.Ala1098=)
c.3261C>A (p.Ala1087=)
c.3474C>A (p.Ala1158=)
 gnomAD v4
Xg.53234714_53234715delinsAACA645609627IQSEC2c.4130_4131delinsTT (p.Ala1377Val)
c.1453+1068_1453+1069delinsTT
c.962+1068_962+1069delinsTT
c.316+1607_316+1608delinsTT (n.316+1607_316+1608delinsTT)
c.514+1607_514+1608delinsTT (n.514+1607_514+1608delinsTT)
c.*456_*457delinsTT (n.*456_*457delinsTT)
c.3971_3972delinsTT (p.Ala1324Val)
c.3941_3942delinsTT (p.Ala1314Val)
c.4067_4068delinsTT (p.Ala1356Val)
c.3356_3357delinsTT (p.Ala1119Val)
c.3597+1068_3597+1069delinsTT (n.3597+1068_3597+1069delinsTT)
c.3547+1607_3547+1608delinsTT (n.3547+1607_3547+1608delinsTT)
c.3293_3294delinsTT (p.Ala1098Val)
c.3260_3261delinsTT (p.Ala1087Val)
c.3473_3474delinsTT (p.Ala1158Val)
 COSMIC
Xg.53234715G>ACA413139974IQSEC2c.4130C>T (p.Ala1377Val)
c.1453+1068C>T
c.962+1068C>T
c.316+1607C>T (n.316+1607C>T)
c.514+1607C>T (n.514+1607C>T)
c.*456C>T (n.*456C>T)
c.3971C>T (p.Ala1324Val)
c.3941C>T (p.Ala1314Val)
c.4067C>T (p.Ala1356Val)
c.3356C>T (p.Ala1119Val)
c.3597+1068C>T (n.3597+1068C>T)
c.3547+1607C>T (n.3547+1607C>T)
c.3293C>T (p.Ala1098Val)
c.3260C>T (p.Ala1087Val)
c.3473C>T (p.Ala1158Val)
Xg.53234715G>CCA413139971IQSEC2c.4130C>G (p.Ala1377Gly)
c.1453+1068C>G
c.962+1068C>G
c.316+1607C>G (n.316+1607C>G)
c.514+1607C>G (n.514+1607C>G)
c.*456C>G (n.*456C>G)
c.3971C>G (p.Ala1324Gly)
c.3941C>G (p.Ala1314Gly)
c.4067C>G (p.Ala1356Gly)
c.3356C>G (p.Ala1119Gly)
c.3597+1068C>G (n.3597+1068C>G)
c.3547+1607C>G (n.3547+1607C>G)
c.3293C>G (p.Ala1098Gly)
c.3260C>G (p.Ala1087Gly)
c.3473C>G (p.Ala1158Gly)
Xg.53234715G>TCA413139973IQSEC2c.4130C>A (p.Ala1377Asp)
c.1453+1068C>A
c.962+1068C>A
c.316+1607C>A (n.316+1607C>A)
c.514+1607C>A (n.514+1607C>A)
c.*456C>A (n.*456C>A)
c.3971C>A (p.Ala1324Asp)
c.3941C>A (p.Ala1314Asp)
c.4067C>A (p.Ala1356Asp)
c.3356C>A (p.Ala1119Asp)
c.3597+1068C>A (n.3597+1068C>A)
c.3547+1607C>A (n.3547+1607C>A)
c.3293C>A (p.Ala1098Asp)
c.3260C>A (p.Ala1087Asp)
c.3473C>A (p.Ala1158Asp)
Xg.53234716C>ACA413139975IQSEC2c.4129G>T (p.Ala1377Ser)
c.1453+1067G>T
c.962+1067G>T
c.316+1606G>T (n.316+1606G>T)
c.514+1606G>T (n.514+1606G>T)
c.*455G>T (n.*455G>T)
c.3970G>T (p.Ala1324Ser)
c.3940G>T (p.Ala1314Ser)
c.4066G>T (p.Ala1356Ser)
c.3355G>T (p.Ala1119Ser)
c.3597+1067G>T (n.3597+1067G>T)
c.3547+1606G>T (n.3547+1606G>T)
c.3292G>T (p.Ala1098Ser)
c.3259G>T (p.Ala1087Ser)
c.3472G>T (p.Ala1158Ser)
 gnomAD v4
Xg.53234716C=CA2429770567IQSEC2c.4129G= (p.Ala1377=)
c.1453+1067G=
c.962+1067G=
c.316+1606G= (n.316+1606G=)
c.514+1606G= (n.514+1606G=)
c.*455G= (n.*455G=)
c.3970G= (p.Ala1324=)
c.3940G= (p.Ala1314=)
c.4066G= (p.Ala1356=)
c.3355G= (p.Ala1119=)
c.3597+1067G= (n.3597+1067G=)
c.3547+1606G= (n.3547+1606G=)
c.3292G= (p.Ala1098=)
c.3259G= (p.Ala1087=)
c.3472G= (p.Ala1158=)
Xg.53234716C>GCA413139977IQSEC2c.4129G>C (p.Ala1377Pro)
c.1453+1067G>C
c.962+1067G>C
c.316+1606G>C (n.316+1606G>C)
c.514+1606G>C (n.514+1606G>C)
c.*455G>C (n.*455G>C)
c.3970G>C (p.Ala1324Pro)
c.3940G>C (p.Ala1314Pro)
c.4066G>C (p.Ala1356Pro)
c.3355G>C (p.Ala1119Pro)
c.3597+1067G>C (n.3597+1067G>C)
c.3547+1606G>C (n.3547+1606G>C)
c.3292G>C (p.Ala1098Pro)
c.3259G>C (p.Ala1087Pro)
c.3472G>C (p.Ala1158Pro)
Xg.53234716C>TCA16608885IQSEC2c.4129G>A (p.Ala1377Thr)
c.1453+1067G>A
c.962+1067G>A
c.316+1606G>A (n.316+1606G>A)
c.514+1606G>A (n.514+1606G>A)
c.*455G>A (n.*455G>A)
c.3970G>A (p.Ala1324Thr)
c.3940G>A (p.Ala1314Thr)
c.4066G>A (p.Ala1356Thr)
c.3355G>A (p.Ala1119Thr)
c.3597+1067G>A (n.3597+1067G>A)
c.3547+1606G>A (n.3547+1606G>A)
c.3292G>A (p.Ala1098Thr)
c.3259G>A (p.Ala1087Thr)
c.3472G>A (p.Ala1158Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234717G>ACA516673517IQSEC2c.4128C>T (p.His1376=)
c.1453+1066C>T
c.962+1066C>T
c.316+1605C>T (n.316+1605C>T)
c.514+1605C>T (n.514+1605C>T)
c.*454C>T (n.*454C>T)
c.3969C>T (p.His1323=)
c.3939C>T (p.His1313=)
c.4065C>T (p.His1355=)
c.3354C>T (p.His1118=)
c.3597+1066C>T (n.3597+1066C>T)
c.3547+1605C>T (n.3547+1605C>T)
c.3291C>T (p.His1097=)
c.3258C>T (p.His1086=)
c.3471C>T (p.His1157=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234717G>CCA413139979IQSEC2c.4128C>G (p.His1376Gln)
c.1453+1066C>G
c.962+1066C>G
c.316+1605C>G (n.316+1605C>G)
c.514+1605C>G (n.514+1605C>G)
c.*454C>G (n.*454C>G)
c.3969C>G (p.His1323Gln)
c.3939C>G (p.His1313Gln)
c.4065C>G (p.His1355Gln)
c.3354C>G (p.His1118Gln)
c.3597+1066C>G (n.3597+1066C>G)
c.3547+1605C>G (n.3547+1605C>G)
c.3291C>G (p.His1097Gln)
c.3258C>G (p.His1086Gln)
c.3471C>G (p.His1157Gln)
Xg.53234717G=CA2429770568IQSEC2c.4128C= (p.His1376=)
c.1453+1066C=
c.962+1066C=
c.316+1605C= (n.316+1605C=)
c.514+1605C= (n.514+1605C=)
c.*454C= (n.*454C=)
c.3969C= (p.His1323=)
c.3939C= (p.His1313=)
c.4065C= (p.His1355=)
c.3354C= (p.His1118=)
c.3597+1066C= (n.3597+1066C=)
c.3547+1605C= (n.3547+1605C=)
c.3291C= (p.His1097=)
c.3258C= (p.His1086=)
c.3471C= (p.His1157=)
Xg.53234717G>TCA413139980IQSEC2c.4128C>A (p.His1376Gln)
c.1453+1066C>A
c.962+1066C>A
c.316+1605C>A (n.316+1605C>A)
c.514+1605C>A (n.514+1605C>A)
c.*454C>A (n.*454C>A)
c.3969C>A (p.His1323Gln)
c.3939C>A (p.His1313Gln)
c.4065C>A (p.His1355Gln)
c.3354C>A (p.His1118Gln)
c.3597+1066C>A (n.3597+1066C>A)
c.3547+1605C>A (n.3547+1605C>A)
c.3291C>A (p.His1097Gln)
c.3258C>A (p.His1086Gln)
c.3471C>A (p.His1157Gln)
Xg.53234718T>ACA413139982IQSEC2c.4127A>T (p.His1376Leu)
c.1453+1065A>T
c.962+1065A>T
c.316+1604A>T (n.316+1604A>T)
c.514+1604A>T (n.514+1604A>T)
c.*453A>T (n.*453A>T)
c.3968A>T (p.His1323Leu)
c.3938A>T (p.His1313Leu)
c.4064A>T (p.His1355Leu)
c.3353A>T (p.His1118Leu)
c.3597+1065A>T (n.3597+1065A>T)
c.3547+1604A>T (n.3547+1604A>T)
c.3290A>T (p.His1097Leu)
c.3257A>T (p.His1086Leu)
c.3470A>T (p.His1157Leu)
Xg.53234718T>CCA413139985IQSEC2c.4127A>G (p.His1376Arg)
c.1453+1065A>G
c.962+1065A>G
c.316+1604A>G (n.316+1604A>G)
c.514+1604A>G (n.514+1604A>G)
c.*453A>G (n.*453A>G)
c.3968A>G (p.His1323Arg)
c.3938A>G (p.His1313Arg)
c.4064A>G (p.His1355Arg)
c.3353A>G (p.His1118Arg)
c.3597+1065A>G (n.3597+1065A>G)
c.3547+1604A>G (n.3547+1604A>G)
c.3290A>G (p.His1097Arg)
c.3257A>G (p.His1086Arg)
c.3470A>G (p.His1157Arg)
Xg.53234718T>GCA413139984IQSEC2c.4127A>C (p.His1376Pro)
c.1453+1065A>C
c.962+1065A>C
c.316+1604A>C (n.316+1604A>C)
c.514+1604A>C (n.514+1604A>C)
c.*453A>C (n.*453A>C)
c.3968A>C (p.His1323Pro)
c.3938A>C (p.His1313Pro)
c.4064A>C (p.His1355Pro)
c.3353A>C (p.His1118Pro)
c.3597+1065A>C (n.3597+1065A>C)
c.3547+1604A>C (n.3547+1604A>C)
c.3290A>C (p.His1097Pro)
c.3257A>C (p.His1086Pro)
c.3470A>C (p.His1157Pro)
Xg.53234719G>ACA413139987IQSEC2c.4126C>T (p.His1376Tyr)
c.1453+1064C>T
c.962+1064C>T
c.316+1603C>T (n.316+1603C>T)
c.514+1603C>T (n.514+1603C>T)
c.*452C>T (n.*452C>T)
c.3967C>T (p.His1323Tyr)
c.3937C>T (p.His1313Tyr)
c.4063C>T (p.His1355Tyr)
c.3352C>T (p.His1118Tyr)
c.3597+1064C>T (n.3597+1064C>T)
c.3547+1603C>T (n.3547+1603C>T)
c.3289C>T (p.His1097Tyr)
c.3256C>T (p.His1086Tyr)
c.3469C>T (p.His1157Tyr)
Xg.53234719G>CCA413139988IQSEC2c.4126C>G (p.His1376Asp)
c.1453+1064C>G
c.962+1064C>G
c.316+1603C>G (n.316+1603C>G)
c.514+1603C>G (n.514+1603C>G)
c.*452C>G (n.*452C>G)
c.3967C>G (p.His1323Asp)
c.3937C>G (p.His1313Asp)
c.4063C>G (p.His1355Asp)
c.3352C>G (p.His1118Asp)
c.3597+1064C>G (n.3597+1064C>G)
c.3547+1603C>G (n.3547+1603C>G)
c.3289C>G (p.His1097Asp)
c.3256C>G (p.His1086Asp)
c.3469C>G (p.His1157Asp)
Xg.53234719G>TCA413139989IQSEC2c.4126C>A (p.His1376Asn)
c.1453+1064C>A
c.962+1064C>A
c.316+1603C>A (n.316+1603C>A)
c.514+1603C>A (n.514+1603C>A)
c.*452C>A (n.*452C>A)
c.3967C>A (p.His1323Asn)
c.3937C>A (p.His1313Asn)
c.4063C>A (p.His1355Asn)
c.3352C>A (p.His1118Asn)
c.3597+1064C>A (n.3597+1064C>A)
c.3547+1603C>A (n.3547+1603C>A)
c.3289C>A (p.His1097Asn)
c.3256C>A (p.His1086Asn)
c.3469C>A (p.His1157Asn)
Xg.53234720G>ACA516673521IQSEC2c.4125C>T (p.Phe1375=)
c.1453+1063C>T
c.962+1063C>T
c.316+1602C>T (n.316+1602C>T)
c.514+1602C>T (n.514+1602C>T)
c.*451C>T (n.*451C>T)
c.3966C>T (p.Phe1322=)
c.3936C>T (p.Phe1312=)
c.4062C>T (p.Phe1354=)
c.3351C>T (p.Phe1117=)
c.3597+1063C>T (n.3597+1063C>T)
c.3547+1602C>T (n.3547+1602C>T)
c.3288C>T (p.Phe1096=)
c.3255C>T (p.Phe1085=)
c.3468C>T (p.Phe1156=)
Xg.53234720G>CCA413139991IQSEC2c.4125C>G (p.Phe1375Leu)
c.1453+1063C>G
c.962+1063C>G
c.316+1602C>G (n.316+1602C>G)
c.514+1602C>G (n.514+1602C>G)
c.*451C>G (n.*451C>G)
c.3966C>G (p.Phe1322Leu)
c.3936C>G (p.Phe1312Leu)
c.4062C>G (p.Phe1354Leu)
c.3351C>G (p.Phe1117Leu)
c.3597+1063C>G (n.3597+1063C>G)
c.3547+1602C>G (n.3547+1602C>G)
c.3288C>G (p.Phe1096Leu)
c.3255C>G (p.Phe1085Leu)
c.3468C>G (p.Phe1156Leu)
Xg.53234720G>TCA413139993IQSEC2c.4125C>A (p.Phe1375Leu)
c.1453+1063C>A
c.962+1063C>A
c.316+1602C>A (n.316+1602C>A)
c.514+1602C>A (n.514+1602C>A)
c.*451C>A (n.*451C>A)
c.3966C>A (p.Phe1322Leu)
c.3936C>A (p.Phe1312Leu)
c.4062C>A (p.Phe1354Leu)
c.3351C>A (p.Phe1117Leu)
c.3597+1063C>A (n.3597+1063C>A)
c.3547+1602C>A (n.3547+1602C>A)
c.3288C>A (p.Phe1096Leu)
c.3255C>A (p.Phe1085Leu)
c.3468C>A (p.Phe1156Leu)
Xg.53234721A>CCA413139995IQSEC2c.4124T>G (p.Phe1375Cys)
c.1453+1062T>G
c.962+1062T>G
c.316+1601T>G (n.316+1601T>G)
c.514+1601T>G (n.514+1601T>G)
c.*450T>G (n.*450T>G)
c.3965T>G (p.Phe1322Cys)
c.3935T>G (p.Phe1312Cys)
c.4061T>G (p.Phe1354Cys)
c.3350T>G (p.Phe1117Cys)
c.3597+1062T>G (n.3597+1062T>G)
c.3547+1601T>G (n.3547+1601T>G)
c.3287T>G (p.Phe1096Cys)
c.3254T>G (p.Phe1085Cys)
c.3467T>G (p.Phe1156Cys)
Xg.53234721A>GCA413139996IQSEC2c.4124T>C (p.Phe1375Ser)
c.1453+1062T>C
c.962+1062T>C
c.316+1601T>C (n.316+1601T>C)
c.514+1601T>C (n.514+1601T>C)
c.*450T>C (n.*450T>C)
c.3965T>C (p.Phe1322Ser)
c.3935T>C (p.Phe1312Ser)
c.4061T>C (p.Phe1354Ser)
c.3350T>C (p.Phe1117Ser)
c.3597+1062T>C (n.3597+1062T>C)
c.3547+1601T>C (n.3547+1601T>C)
c.3287T>C (p.Phe1096Ser)
c.3254T>C (p.Phe1085Ser)
c.3467T>C (p.Phe1156Ser)
 gnomAD v4
Xg.53234721A>TCA413139997IQSEC2c.4124T>A (p.Phe1375Tyr)
c.1453+1062T>A
c.962+1062T>A
c.316+1601T>A (n.316+1601T>A)
c.514+1601T>A (n.514+1601T>A)
c.*450T>A (n.*450T>A)
c.3965T>A (p.Phe1322Tyr)
c.3935T>A (p.Phe1312Tyr)
c.4061T>A (p.Phe1354Tyr)
c.3350T>A (p.Phe1117Tyr)
c.3597+1062T>A (n.3597+1062T>A)
c.3547+1601T>A (n.3547+1601T>A)
c.3287T>A (p.Phe1096Tyr)
c.3254T>A (p.Phe1085Tyr)
c.3467T>A (p.Phe1156Tyr)
Xg.53234722A>CCA413139999IQSEC2c.4123T>G (p.Phe1375Val)
c.1453+1061T>G
c.962+1061T>G
c.316+1600T>G (n.316+1600T>G)
c.514+1600T>G (n.514+1600T>G)
c.*449T>G (n.*449T>G)
c.3964T>G (p.Phe1322Val)
c.3934T>G (p.Phe1312Val)
c.4060T>G (p.Phe1354Val)
c.3349T>G (p.Phe1117Val)
c.3597+1061T>G (n.3597+1061T>G)
c.3547+1600T>G (n.3547+1600T>G)
c.3286T>G (p.Phe1096Val)
c.3253T>G (p.Phe1085Val)
c.3466T>G (p.Phe1156Val)
Xg.53234722A>GCA413140001IQSEC2c.4123T>C (p.Phe1375Leu)
c.1453+1061T>C
c.962+1061T>C
c.316+1600T>C (n.316+1600T>C)
c.514+1600T>C (n.514+1600T>C)
c.*449T>C (n.*449T>C)
c.3964T>C (p.Phe1322Leu)
c.3934T>C (p.Phe1312Leu)
c.4060T>C (p.Phe1354Leu)
c.3349T>C (p.Phe1117Leu)
c.3597+1061T>C (n.3597+1061T>C)
c.3547+1600T>C (n.3547+1600T>C)
c.3286T>C (p.Phe1096Leu)
c.3253T>C (p.Phe1085Leu)
c.3466T>C (p.Phe1156Leu)
Xg.53234722A>TCA413140002IQSEC2c.4123T>A (p.Phe1375Ile)
c.1453+1061T>A
c.962+1061T>A
c.316+1600T>A (n.316+1600T>A)
c.514+1600T>A (n.514+1600T>A)
c.*449T>A (n.*449T>A)
c.3964T>A (p.Phe1322Ile)
c.3934T>A (p.Phe1312Ile)
c.4060T>A (p.Phe1354Ile)
c.3349T>A (p.Phe1117Ile)
c.3597+1061T>A (n.3597+1061T>A)
c.3547+1600T>A (n.3547+1600T>A)
c.3286T>A (p.Phe1096Ile)
c.3253T>A (p.Phe1085Ile)
c.3466T>A (p.Phe1156Ile)
Xg.53234723G>ACA516673526IQSEC2c.4122C>T (p.His1374=)
c.1453+1060C>T
c.962+1060C>T
c.316+1599C>T (n.316+1599C>T)
c.514+1599C>T (n.514+1599C>T)
c.*448C>T (n.*448C>T)
c.3963C>T (p.His1321=)
c.3933C>T (p.His1311=)
c.4059C>T (p.His1353=)
c.3348C>T (p.His1116=)
c.3597+1060C>T (n.3597+1060C>T)
c.3547+1599C>T (n.3547+1599C>T)
c.3285C>T (p.His1095=)
c.3252C>T (p.His1084=)
c.3465C>T (p.His1155=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234723G>CCA413140004IQSEC2c.4122C>G (p.His1374Gln)
c.1453+1060C>G
c.962+1060C>G
c.316+1599C>G (n.316+1599C>G)
c.514+1599C>G (n.514+1599C>G)
c.*448C>G (n.*448C>G)
c.3963C>G (p.His1321Gln)
c.3933C>G (p.His1311Gln)
c.4059C>G (p.His1353Gln)
c.3348C>G (p.His1116Gln)
c.3597+1060C>G (n.3597+1060C>G)
c.3547+1599C>G (n.3547+1599C>G)
c.3285C>G (p.His1095Gln)
c.3252C>G (p.His1084Gln)
c.3465C>G (p.His1155Gln)
Xg.53234723G=CA2429770569IQSEC2c.4122C= (p.His1374=)
c.1453+1060C=
c.962+1060C=
c.316+1599C= (n.316+1599C=)
c.514+1599C= (n.514+1599C=)
c.*448C= (n.*448C=)
c.3963C= (p.His1321=)
c.3933C= (p.His1311=)
c.4059C= (p.His1353=)
c.3348C= (p.His1116=)
c.3597+1060C= (n.3597+1060C=)
c.3547+1599C= (n.3547+1599C=)
c.3285C= (p.His1095=)
c.3252C= (p.His1084=)
c.3465C= (p.His1155=)
Xg.53234723G>TCA413140006IQSEC2c.4122C>A (p.His1374Gln)
c.1453+1060C>A
c.962+1060C>A
c.316+1599C>A (n.316+1599C>A)
c.514+1599C>A (n.514+1599C>A)
c.*448C>A (n.*448C>A)
c.3963C>A (p.His1321Gln)
c.3933C>A (p.His1311Gln)
c.4059C>A (p.His1353Gln)
c.3348C>A (p.His1116Gln)
c.3597+1060C>A (n.3597+1060C>A)
c.3547+1599C>A (n.3547+1599C>A)
c.3285C>A (p.His1095Gln)
c.3252C>A (p.His1084Gln)
c.3465C>A (p.His1155Gln)
Xg.53234724T>ACA413140010IQSEC2c.4121A>T (p.His1374Leu)
c.1453+1059A>T
c.962+1059A>T
c.316+1598A>T (n.316+1598A>T)
c.514+1598A>T (n.514+1598A>T)
c.*447A>T (n.*447A>T)
c.3962A>T (p.His1321Leu)
c.3932A>T (p.His1311Leu)
c.4058A>T (p.His1353Leu)
c.3347A>T (p.His1116Leu)
c.3597+1059A>T (n.3597+1059A>T)
c.3547+1598A>T (n.3547+1598A>T)
c.3284A>T (p.His1095Leu)
c.3251A>T (p.His1084Leu)
c.3464A>T (p.His1155Leu)
Xg.53234724T>CCA413140008IQSEC2c.4121A>G (p.His1374Arg)
c.1453+1059A>G
c.962+1059A>G
c.316+1598A>G (n.316+1598A>G)
c.514+1598A>G (n.514+1598A>G)
c.*447A>G (n.*447A>G)
c.3962A>G (p.His1321Arg)
c.3932A>G (p.His1311Arg)
c.4058A>G (p.His1353Arg)
c.3347A>G (p.His1116Arg)
c.3597+1059A>G (n.3597+1059A>G)
c.3547+1598A>G (n.3547+1598A>G)
c.3284A>G (p.His1095Arg)
c.3251A>G (p.His1084Arg)
c.3464A>G (p.His1155Arg)
Xg.53234724T>GCA413140009IQSEC2c.4121A>C (p.His1374Pro)
c.1453+1059A>C
c.962+1059A>C
c.316+1598A>C (n.316+1598A>C)
c.514+1598A>C (n.514+1598A>C)
c.*447A>C (n.*447A>C)
c.3962A>C (p.His1321Pro)
c.3932A>C (p.His1311Pro)
c.4058A>C (p.His1353Pro)
c.3347A>C (p.His1116Pro)
c.3597+1059A>C (n.3597+1059A>C)
c.3547+1598A>C (n.3547+1598A>C)
c.3284A>C (p.His1095Pro)
c.3251A>C (p.His1084Pro)
c.3464A>C (p.His1155Pro)
Xg.53234725G>ACA413140012IQSEC2c.4120C>T (p.His1374Tyr)
c.1453+1058C>T
c.962+1058C>T
c.316+1597C>T (n.316+1597C>T)
c.514+1597C>T (n.514+1597C>T)
c.*446C>T (n.*446C>T)
c.3961C>T (p.His1321Tyr)
c.3931C>T (p.His1311Tyr)
c.4057C>T (p.His1353Tyr)
c.3346C>T (p.His1116Tyr)
c.3597+1058C>T (n.3597+1058C>T)
c.3547+1597C>T (n.3547+1597C>T)
c.3283C>T (p.His1095Tyr)
c.3250C>T (p.His1084Tyr)
c.3463C>T (p.His1155Tyr)
 gnomAD v4
Xg.53234725G>CCA413140014IQSEC2c.4120C>G (p.His1374Asp)
c.1453+1058C>G
c.962+1058C>G
c.316+1597C>G (n.316+1597C>G)
c.514+1597C>G (n.514+1597C>G)
c.*446C>G (n.*446C>G)
c.3961C>G (p.His1321Asp)
c.3931C>G (p.His1311Asp)
c.4057C>G (p.His1353Asp)
c.3346C>G (p.His1116Asp)
c.3597+1058C>G (n.3597+1058C>G)
c.3547+1597C>G (n.3547+1597C>G)
c.3283C>G (p.His1095Asp)
c.3250C>G (p.His1084Asp)
c.3463C>G (p.His1155Asp)
Xg.53234725G>TCA413140016IQSEC2c.4120C>A (p.His1374Asn)
c.1453+1058C>A
c.962+1058C>A
c.316+1597C>A (n.316+1597C>A)
c.514+1597C>A (n.514+1597C>A)
c.*446C>A (n.*446C>A)
c.3961C>A (p.His1321Asn)
c.3931C>A (p.His1311Asn)
c.4057C>A (p.His1353Asn)
c.3346C>A (p.His1116Asn)
c.3597+1058C>A (n.3597+1058C>A)
c.3547+1597C>A (n.3547+1597C>A)
c.3283C>A (p.His1095Asn)
c.3250C>A (p.His1084Asn)
c.3463C>A (p.His1155Asn)
 gnomAD v4
Xg.53234726delCA2820950159IQSEC2c.4120del (p.His1374ThrfsTer?)
c.1453+1058del
c.962+1058del
c.316+1597del (n.316+1597del)
c.514+1597del (n.514+1597del)
c.*446del (n.*446del)
c.3961del (p.His1321ThrfsTer?)
c.3931del (p.His1311ThrfsTer?)
c.4057del (p.His1353ThrfsTer?)
c.3346del (p.His1116ThrfsTer?)
c.3597+1058del (n.3597+1058del)
c.3547+1597del (n.3547+1597del)
c.3283del (p.His1095ThrfsTer?)
c.3250del (p.His1084ThrfsTer?)
c.3463del (p.His1155ThrfsTer?)
Xg.53234726G>ACA516673530IQSEC2c.4119C>T (p.Arg1373=)
c.1453+1057C>T
c.962+1057C>T
c.316+1596C>T (n.316+1596C>T)
c.514+1596C>T (n.514+1596C>T)
c.*445C>T (n.*445C>T)
c.3960C>T (p.Arg1320=)
c.3930C>T (p.Arg1310=)
c.4056C>T (p.Arg1352=)
c.3345C>T (p.Arg1115=)
c.3597+1057C>T (n.3597+1057C>T)
c.3547+1596C>T (n.3547+1596C>T)
c.3282C>T (p.Arg1094=)
c.3249C>T (p.Arg1083=)
c.3462C>T (p.Arg1154=)
Xg.53234726G>CCA516673531IQSEC2c.4119C>G (p.Arg1373=)
c.1453+1057C>G
c.962+1057C>G
c.316+1596C>G (n.316+1596C>G)
c.514+1596C>G (n.514+1596C>G)
c.*445C>G (n.*445C>G)
c.3960C>G (p.Arg1320=)
c.3930C>G (p.Arg1310=)
c.4056C>G (p.Arg1352=)
c.3345C>G (p.Arg1115=)
c.3597+1057C>G (n.3597+1057C>G)
c.3547+1596C>G (n.3547+1596C>G)
c.3282C>G (p.Arg1094=)
c.3249C>G (p.Arg1083=)
c.3462C>G (p.Arg1154=)
Xg.53234726G>TCA516673532IQSEC2c.4119C>A (p.Arg1373=)
c.1453+1057C>A
c.962+1057C>A
c.316+1596C>A (n.316+1596C>A)
c.514+1596C>A (n.514+1596C>A)
c.*445C>A (n.*445C>A)
c.3960C>A (p.Arg1320=)
c.3930C>A (p.Arg1310=)
c.4056C>A (p.Arg1352=)
c.3345C>A (p.Arg1115=)
c.3597+1057C>A (n.3597+1057C>A)
c.3547+1596C>A (n.3547+1596C>A)
c.3282C>A (p.Arg1094=)
c.3249C>A (p.Arg1083=)
c.3462C>A (p.Arg1154=)
 gnomAD v4
Xg.53234727C>ACA413140018IQSEC2c.4118G>T (p.Arg1373Leu)
c.1453+1056G>T
c.962+1056G>T
c.316+1595G>T (n.316+1595G>T)
c.514+1595G>T (n.514+1595G>T)
c.*444G>T (n.*444G>T)
c.3959G>T (p.Arg1320Leu)
c.3929G>T (p.Arg1310Leu)
c.4055G>T (p.Arg1352Leu)
c.3344G>T (p.Arg1115Leu)
c.3597+1056G>T (n.3597+1056G>T)
c.3547+1595G>T (n.3547+1595G>T)
c.3281G>T (p.Arg1094Leu)
c.3248G>T (p.Arg1083Leu)
c.3461G>T (p.Arg1154Leu)
 gnomAD v4
Xg.53234727C=CA2429770570IQSEC2c.4118G= (p.Arg1373=)
c.1453+1056G=
c.962+1056G=
c.316+1595G= (n.316+1595G=)
c.514+1595G= (n.514+1595G=)
c.*444G= (n.*444G=)
c.3959G= (p.Arg1320=)
c.3929G= (p.Arg1310=)
c.4055G= (p.Arg1352=)
c.3344G= (p.Arg1115=)
c.3597+1056G= (n.3597+1056G=)
c.3547+1595G= (n.3547+1595G=)
c.3281G= (p.Arg1094=)
c.3248G= (p.Arg1083=)
c.3461G= (p.Arg1154=)
Xg.53234727C>GCA413140019IQSEC2c.4118G>C (p.Arg1373Pro)
c.1453+1056G>C
c.962+1056G>C
c.316+1595G>C (n.316+1595G>C)
c.514+1595G>C (n.514+1595G>C)
c.*444G>C (n.*444G>C)
c.3959G>C (p.Arg1320Pro)
c.3929G>C (p.Arg1310Pro)
c.4055G>C (p.Arg1352Pro)
c.3344G>C (p.Arg1115Pro)
c.3597+1056G>C (n.3597+1056G>C)
c.3547+1595G>C (n.3547+1595G>C)
c.3281G>C (p.Arg1094Pro)
c.3248G>C (p.Arg1083Pro)
c.3461G>C (p.Arg1154Pro)
 gnomAD v4
Xg.53234727C>TCA413140021IQSEC2c.4118G>A (p.Arg1373His)
c.1453+1056G>A
c.962+1056G>A
c.316+1595G>A (n.316+1595G>A)
c.514+1595G>A (n.514+1595G>A)
c.*444G>A (n.*444G>A)
c.3959G>A (p.Arg1320His)
c.3929G>A (p.Arg1310His)
c.4055G>A (p.Arg1352His)
c.3344G>A (p.Arg1115His)
c.3597+1056G>A (n.3597+1056G>A)
c.3547+1595G>A (n.3547+1595G>A)
c.3281G>A (p.Arg1094His)
c.3248G>A (p.Arg1083His)
c.3461G>A (p.Arg1154His)
 ClinVar dbSNP gnomAD v4
Xg.53234728G>ACA413140023IQSEC2c.4117C>T (p.Arg1373Cys)
c.1453+1055C>T
c.962+1055C>T
c.316+1594C>T (n.316+1594C>T)
c.514+1594C>T (n.514+1594C>T)
c.*443C>T (n.*443C>T)
c.3958C>T (p.Arg1320Cys)
c.3928C>T (p.Arg1310Cys)
c.4054C>T (p.Arg1352Cys)
c.3343C>T (p.Arg1115Cys)
c.3597+1055C>T (n.3597+1055C>T)
c.3547+1594C>T (n.3547+1594C>T)
c.3280C>T (p.Arg1094Cys)
c.3247C>T (p.Arg1083Cys)
c.3460C>T (p.Arg1154Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53234728G>CCA413140024IQSEC2c.4117C>G (p.Arg1373Gly)
c.1453+1055C>G
c.962+1055C>G
c.316+1594C>G (n.316+1594C>G)
c.514+1594C>G (n.514+1594C>G)
c.*443C>G (n.*443C>G)
c.3958C>G (p.Arg1320Gly)
c.3928C>G (p.Arg1310Gly)
c.4054C>G (p.Arg1352Gly)
c.3343C>G (p.Arg1115Gly)
c.3597+1055C>G (n.3597+1055C>G)
c.3547+1594C>G (n.3547+1594C>G)
c.3280C>G (p.Arg1094Gly)
c.3247C>G (p.Arg1083Gly)
c.3460C>G (p.Arg1154Gly)
Xg.53234728G=CA2429770571IQSEC2c.4117C= (p.Arg1373=)
c.1453+1055C=
c.962+1055C=
c.316+1594C= (n.316+1594C=)
c.514+1594C= (n.514+1594C=)
c.*443C= (n.*443C=)
c.3958C= (p.Arg1320=)
c.3928C= (p.Arg1310=)
c.4054C= (p.Arg1352=)
c.3343C= (p.Arg1115=)
c.3597+1055C= (n.3597+1055C=)
c.3547+1594C= (n.3547+1594C=)
c.3280C= (p.Arg1094=)
c.3247C= (p.Arg1083=)
c.3460C= (p.Arg1154=)
Xg.53234728G>TCA413140026IQSEC2c.4117C>A (p.Arg1373Ser)
c.1453+1055C>A
c.962+1055C>A
c.316+1594C>A (n.316+1594C>A)
c.514+1594C>A (n.514+1594C>A)
c.*443C>A (n.*443C>A)
c.3958C>A (p.Arg1320Ser)
c.3928C>A (p.Arg1310Ser)
c.4054C>A (p.Arg1352Ser)
c.3343C>A (p.Arg1115Ser)
c.3597+1055C>A (n.3597+1055C>A)
c.3547+1594C>A (n.3547+1594C>A)
c.3280C>A (p.Arg1094Ser)
c.3247C>A (p.Arg1083Ser)
c.3460C>A (p.Arg1154Ser)
 gnomAD v4
Xg.53234729A>CCA413140028IQSEC2c.4116T>G (p.His1372Gln)
c.1453+1054T>G
c.962+1054T>G
c.316+1593T>G (n.316+1593T>G)
c.514+1593T>G (n.514+1593T>G)
c.*442T>G (n.*442T>G)
c.3957T>G (p.His1319Gln)
c.3927T>G (p.His1309Gln)
c.4053T>G (p.His1351Gln)
c.3342T>G (p.His1114Gln)
c.3597+1054T>G (n.3597+1054T>G)
c.3547+1593T>G (n.3547+1593T>G)
c.3279T>G (p.His1093Gln)
c.3246T>G (p.His1082Gln)
c.3459T>G (p.His1153Gln)
 gnomAD v4
Xg.53234729A>GCA516673536IQSEC2c.4116T>C (p.His1372=)
c.1453+1054T>C
c.962+1054T>C
c.316+1593T>C (n.316+1593T>C)
c.514+1593T>C (n.514+1593T>C)
c.*442T>C (n.*442T>C)
c.3957T>C (p.His1319=)
c.3927T>C (p.His1309=)
c.4053T>C (p.His1351=)
c.3342T>C (p.His1114=)
c.3597+1054T>C (n.3597+1054T>C)
c.3547+1593T>C (n.3547+1593T>C)
c.3279T>C (p.His1093=)
c.3246T>C (p.His1082=)
c.3459T>C (p.His1153=)
 gnomAD v4
Xg.53234729A>TCA413140029IQSEC2c.4116T>A (p.His1372Gln)
c.1453+1054T>A
c.962+1054T>A
c.316+1593T>A (n.316+1593T>A)
c.514+1593T>A (n.514+1593T>A)
c.*442T>A (n.*442T>A)
c.3957T>A (p.His1319Gln)
c.3927T>A (p.His1309Gln)
c.4053T>A (p.His1351Gln)
c.3342T>A (p.His1114Gln)
c.3597+1054T>A (n.3597+1054T>A)
c.3547+1593T>A (n.3547+1593T>A)
c.3279T>A (p.His1093Gln)
c.3246T>A (p.His1082Gln)
c.3459T>A (p.His1153Gln)
Xg.53234730T>ACA413140031IQSEC2c.4115A>T (p.His1372Leu)
c.1453+1053A>T
c.962+1053A>T
c.316+1592A>T (n.316+1592A>T)
c.514+1592A>T (n.514+1592A>T)
c.*441A>T (n.*441A>T)
c.3956A>T (p.His1319Leu)
c.3926A>T (p.His1309Leu)
c.4052A>T (p.His1351Leu)
c.3341A>T (p.His1114Leu)
c.3597+1053A>T (n.3597+1053A>T)
c.3547+1592A>T (n.3547+1592A>T)
c.3278A>T (p.His1093Leu)
c.3245A>T (p.His1082Leu)
c.3458A>T (p.His1153Leu)
Xg.53234730T>CCA413140034IQSEC2c.4115A>G (p.His1372Arg)
c.1453+1053A>G
c.962+1053A>G
c.316+1592A>G (n.316+1592A>G)
c.514+1592A>G (n.514+1592A>G)
c.*441A>G (n.*441A>G)
c.3956A>G (p.His1319Arg)
c.3926A>G (p.His1309Arg)
c.4052A>G (p.His1351Arg)
c.3341A>G (p.His1114Arg)
c.3597+1053A>G (n.3597+1053A>G)
c.3547+1592A>G (n.3547+1592A>G)
c.3278A>G (p.His1093Arg)
c.3245A>G (p.His1082Arg)
c.3458A>G (p.His1153Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234730T>GCA413140032IQSEC2c.4115A>C (p.His1372Pro)
c.1453+1053A>C
c.962+1053A>C
c.316+1592A>C (n.316+1592A>C)
c.514+1592A>C (n.514+1592A>C)
c.*441A>C (n.*441A>C)
c.3956A>C (p.His1319Pro)
c.3926A>C (p.His1309Pro)
c.4052A>C (p.His1351Pro)
c.3341A>C (p.His1114Pro)
c.3597+1053A>C (n.3597+1053A>C)
c.3547+1592A>C (n.3547+1592A>C)
c.3278A>C (p.His1093Pro)
c.3245A>C (p.His1082Pro)
c.3458A>C (p.His1153Pro)
Xg.53234730T=CA2429770572IQSEC2c.4115A= (p.His1372=)
c.1453+1053A=
c.962+1053A=
c.316+1592A= (n.316+1592A=)
c.514+1592A= (n.514+1592A=)
c.*441A= (n.*441A=)
c.3956A= (p.His1319=)
c.3926A= (p.His1309=)
c.4052A= (p.His1351=)
c.3341A= (p.His1114=)
c.3597+1053A= (n.3597+1053A=)
c.3547+1592A= (n.3547+1592A=)
c.3278A= (p.His1093=)
c.3245A= (p.His1082=)
c.3458A= (p.His1153=)
Xg.53234731G>ACA413140036IQSEC2c.4114C>T (p.His1372Tyr)
c.1453+1052C>T
c.962+1052C>T
c.316+1591C>T (n.316+1591C>T)
c.514+1591C>T (n.514+1591C>T)
c.*440C>T (n.*440C>T)
c.3955C>T (p.His1319Tyr)
c.3925C>T (p.His1309Tyr)
c.4051C>T (p.His1351Tyr)
c.3340C>T (p.His1114Tyr)
c.3597+1052C>T (n.3597+1052C>T)
c.3547+1591C>T (n.3547+1591C>T)
c.3277C>T (p.His1093Tyr)
c.3244C>T (p.His1082Tyr)
c.3457C>T (p.His1153Tyr)
Xg.53234731G>CCA413140039IQSEC2c.4114C>G (p.His1372Asp)
c.1453+1052C>G
c.962+1052C>G
c.316+1591C>G (n.316+1591C>G)
c.514+1591C>G (n.514+1591C>G)
c.*440C>G (n.*440C>G)
c.3955C>G (p.His1319Asp)
c.3925C>G (p.His1309Asp)
c.4051C>G (p.His1351Asp)
c.3340C>G (p.His1114Asp)
c.3597+1052C>G (n.3597+1052C>G)
c.3547+1591C>G (n.3547+1591C>G)
c.3277C>G (p.His1093Asp)
c.3244C>G (p.His1082Asp)
c.3457C>G (p.His1153Asp)
Xg.53234731G>TCA413140037IQSEC2c.4114C>A (p.His1372Asn)
c.1453+1052C>A
c.962+1052C>A
c.316+1591C>A (n.316+1591C>A)
c.514+1591C>A (n.514+1591C>A)
c.*440C>A (n.*440C>A)
c.3955C>A (p.His1319Asn)
c.3925C>A (p.His1309Asn)
c.4051C>A (p.His1351Asn)
c.3340C>A (p.His1114Asn)
c.3597+1052C>A (n.3597+1052C>A)
c.3547+1591C>A (n.3547+1591C>A)
c.3277C>A (p.His1093Asn)
c.3244C>A (p.His1082Asn)
c.3457C>A (p.His1153Asn)
 gnomAD v4
Xg.53234732T>ACA516673538IQSEC2c.4113A>T (p.Pro1371=)
c.1453+1051A>T
c.962+1051A>T
c.316+1590A>T (n.316+1590A>T)
c.514+1590A>T (n.514+1590A>T)
c.*439A>T (n.*439A>T)
c.3954A>T (p.Pro1318=)
c.3924A>T (p.Pro1308=)
c.4050A>T (p.Pro1350=)
c.3339A>T (p.Pro1113=)
c.3597+1051A>T (n.3597+1051A>T)
c.3547+1590A>T (n.3547+1590A>T)
c.3276A>T (p.Pro1092=)
c.3243A>T (p.Pro1081=)
c.3456A>T (p.Pro1152=)
Xg.53234732T>CCA516673539IQSEC2c.4113A>G (p.Pro1371=)
c.1453+1051A>G
c.962+1051A>G
c.316+1590A>G (n.316+1590A>G)
c.514+1590A>G (n.514+1590A>G)
c.*439A>G (n.*439A>G)
c.3954A>G (p.Pro1318=)
c.3924A>G (p.Pro1308=)
c.4050A>G (p.Pro1350=)
c.3339A>G (p.Pro1113=)
c.3597+1051A>G (n.3597+1051A>G)
c.3547+1590A>G (n.3547+1590A>G)
c.3276A>G (p.Pro1092=)
c.3243A>G (p.Pro1081=)
c.3456A>G (p.Pro1152=)
Xg.53234732T>GCA516673540IQSEC2c.4113A>C (p.Pro1371=)
c.1453+1051A>C
c.962+1051A>C
c.316+1590A>C (n.316+1590A>C)
c.514+1590A>C (n.514+1590A>C)
c.*439A>C (n.*439A>C)
c.3954A>C (p.Pro1318=)
c.3924A>C (p.Pro1308=)
c.4050A>C (p.Pro1350=)
c.3339A>C (p.Pro1113=)
c.3597+1051A>C (n.3597+1051A>C)
c.3547+1590A>C (n.3547+1590A>C)
c.3276A>C (p.Pro1092=)
c.3243A>C (p.Pro1081=)
c.3456A>C (p.Pro1152=)
Xg.53234733G>ACA413140040IQSEC2c.4112C>T (p.Pro1371Leu)
c.1453+1050C>T
c.962+1050C>T
c.316+1589C>T (n.316+1589C>T)
c.514+1589C>T (n.514+1589C>T)
c.*438C>T (n.*438C>T)
c.3953C>T (p.Pro1318Leu)
c.3923C>T (p.Pro1308Leu)
c.4049C>T (p.Pro1350Leu)
c.3338C>T (p.Pro1113Leu)
c.3597+1050C>T (n.3597+1050C>T)
c.3547+1589C>T (n.3547+1589C>T)
c.3275C>T (p.Pro1092Leu)
c.3242C>T (p.Pro1081Leu)
c.3455C>T (p.Pro1152Leu)
 gnomAD v4
Xg.53234733G>CCA413140041IQSEC2c.4112C>G (p.Pro1371Arg)
c.1453+1050C>G
c.962+1050C>G
c.316+1589C>G (n.316+1589C>G)
c.514+1589C>G (n.514+1589C>G)
c.*438C>G (n.*438C>G)
c.3953C>G (p.Pro1318Arg)
c.3923C>G (p.Pro1308Arg)
c.4049C>G (p.Pro1350Arg)
c.3338C>G (p.Pro1113Arg)
c.3597+1050C>G (n.3597+1050C>G)
c.3547+1589C>G (n.3547+1589C>G)
c.3275C>G (p.Pro1092Arg)
c.3242C>G (p.Pro1081Arg)
c.3455C>G (p.Pro1152Arg)
Xg.53234733G>TCA413140042IQSEC2c.4112C>A (p.Pro1371Gln)
c.1453+1050C>A
c.962+1050C>A
c.316+1589C>A (n.316+1589C>A)
c.514+1589C>A (n.514+1589C>A)
c.*438C>A (n.*438C>A)
c.3953C>A (p.Pro1318Gln)
c.3923C>A (p.Pro1308Gln)
c.4049C>A (p.Pro1350Gln)
c.3338C>A (p.Pro1113Gln)
c.3597+1050C>A (n.3597+1050C>A)
c.3547+1589C>A (n.3547+1589C>A)
c.3275C>A (p.Pro1092Gln)
c.3242C>A (p.Pro1081Gln)
c.3455C>A (p.Pro1152Gln)
Xg.53234734G>ACA413140044IQSEC2c.4111C>T (p.Pro1371Ser)
c.1453+1049C>T
c.962+1049C>T
c.316+1588C>T (n.316+1588C>T)
c.514+1588C>T (n.514+1588C>T)
c.*437C>T (n.*437C>T)
c.3952C>T (p.Pro1318Ser)
c.3922C>T (p.Pro1308Ser)
c.4048C>T (p.Pro1350Ser)
c.3337C>T (p.Pro1113Ser)
c.3597+1049C>T (n.3597+1049C>T)
c.3547+1588C>T (n.3547+1588C>T)
c.3274C>T (p.Pro1092Ser)
c.3241C>T (p.Pro1081Ser)
c.3454C>T (p.Pro1152Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53234734G>CCA413140046IQSEC2c.4111C>G (p.Pro1371Ala)
c.1453+1049C>G
c.962+1049C>G
c.316+1588C>G (n.316+1588C>G)
c.514+1588C>G (n.514+1588C>G)
c.*437C>G (n.*437C>G)
c.3952C>G (p.Pro1318Ala)
c.3922C>G (p.Pro1308Ala)
c.4048C>G (p.Pro1350Ala)
c.3337C>G (p.Pro1113Ala)
c.3597+1049C>G (n.3597+1049C>G)
c.3547+1588C>G (n.3547+1588C>G)
c.3274C>G (p.Pro1092Ala)
c.3241C>G (p.Pro1081Ala)
c.3454C>G (p.Pro1152Ala)
Xg.53234734G=CA2429770573IQSEC2c.4111C= (p.Pro1371=)
c.1453+1049C=
c.962+1049C=
c.316+1588C= (n.316+1588C=)
c.514+1588C= (n.514+1588C=)
c.*437C= (n.*437C=)
c.3952C= (p.Pro1318=)
c.3922C= (p.Pro1308=)
c.4048C= (p.Pro1350=)
c.3337C= (p.Pro1113=)
c.3597+1049C= (n.3597+1049C=)
c.3547+1588C= (n.3547+1588C=)
c.3274C= (p.Pro1092=)
c.3241C= (p.Pro1081=)
c.3454C= (p.Pro1152=)
Xg.53234734G>TCA413140047IQSEC2c.4111C>A (p.Pro1371Thr)
c.1453+1049C>A
c.962+1049C>A
c.316+1588C>A (n.316+1588C>A)
c.514+1588C>A (n.514+1588C>A)
c.*437C>A (n.*437C>A)
c.3952C>A (p.Pro1318Thr)
c.3922C>A (p.Pro1308Thr)
c.4048C>A (p.Pro1350Thr)
c.3337C>A (p.Pro1113Thr)
c.3597+1049C>A (n.3597+1049C>A)
c.3547+1588C>A (n.3547+1588C>A)
c.3274C>A (p.Pro1092Thr)
c.3241C>A (p.Pro1081Thr)
c.3454C>A (p.Pro1152Thr)
Xg.53234735C>ACA516673542IQSEC2c.4110G>T (p.Gly1370=)
c.1453+1048G>T
c.962+1048G>T
c.316+1587G>T (n.316+1587G>T)
c.514+1587G>T (n.514+1587G>T)
c.*436G>T (n.*436G>T)
c.3951G>T (p.Gly1317=)
c.3921G>T (p.Gly1307=)
c.4047G>T (p.Gly1349=)
c.3336G>T (p.Gly1112=)
c.3597+1048G>T (n.3597+1048G>T)
c.3547+1587G>T (n.3547+1587G>T)
c.3273G>T (p.Gly1091=)
c.3240G>T (p.Gly1080=)
c.3453G>T (p.Gly1151=)
 gnomAD v4
Xg.53234735C>GCA516673543IQSEC2c.4110G>C (p.Gly1370=)
c.1453+1048G>C
c.962+1048G>C
c.316+1587G>C (n.316+1587G>C)
c.514+1587G>C (n.514+1587G>C)
c.*436G>C (n.*436G>C)
c.3951G>C (p.Gly1317=)
c.3921G>C (p.Gly1307=)
c.4047G>C (p.Gly1349=)
c.3336G>C (p.Gly1112=)
c.3597+1048G>C (n.3597+1048G>C)
c.3547+1587G>C (n.3547+1587G>C)
c.3273G>C (p.Gly1091=)
c.3240G>C (p.Gly1080=)
c.3453G>C (p.Gly1151=)
Xg.53234735C>TCA516673544IQSEC2c.4110G>A (p.Gly1370=)
c.1453+1048G>A
c.962+1048G>A
c.316+1587G>A (n.316+1587G>A)
c.514+1587G>A (n.514+1587G>A)
c.*436G>A (n.*436G>A)
c.3951G>A (p.Gly1317=)
c.3921G>A (p.Gly1307=)
c.4047G>A (p.Gly1349=)
c.3336G>A (p.Gly1112=)
c.3597+1048G>A (n.3597+1048G>A)
c.3547+1587G>A (n.3547+1587G>A)
c.3273G>A (p.Gly1091=)
c.3240G>A (p.Gly1080=)
c.3453G>A (p.Gly1151=)
 gnomAD v4
Xg.53234736C>ACA413140049IQSEC2c.4109G>T (p.Gly1370Val)
c.1453+1047G>T
c.962+1047G>T
c.316+1586G>T (n.316+1586G>T)
c.514+1586G>T (n.514+1586G>T)
c.*435G>T (n.*435G>T)
c.3950G>T (p.Gly1317Val)
c.3920G>T (p.Gly1307Val)
c.4046G>T (p.Gly1349Val)
c.3335G>T (p.Gly1112Val)
c.3597+1047G>T (n.3597+1047G>T)
c.3547+1586G>T (n.3547+1586G>T)
c.3272G>T (p.Gly1091Val)
c.3239G>T (p.Gly1080Val)
c.3452G>T (p.Gly1151Val)
Xg.53234736C>GCA413140050IQSEC2c.4109G>C (p.Gly1370Ala)
c.1453+1047G>C
c.962+1047G>C
c.316+1586G>C (n.316+1586G>C)
c.514+1586G>C (n.514+1586G>C)
c.*435G>C (n.*435G>C)
c.3950G>C (p.Gly1317Ala)
c.3920G>C (p.Gly1307Ala)
c.4046G>C (p.Gly1349Ala)
c.3335G>C (p.Gly1112Ala)
c.3597+1047G>C (n.3597+1047G>C)
c.3547+1586G>C (n.3547+1586G>C)
c.3272G>C (p.Gly1091Ala)
c.3239G>C (p.Gly1080Ala)
c.3452G>C (p.Gly1151Ala)
Xg.53234736C>TCA413140052IQSEC2c.4109G>A (p.Gly1370Glu)
c.1453+1047G>A
c.962+1047G>A
c.316+1586G>A (n.316+1586G>A)
c.514+1586G>A (n.514+1586G>A)
c.*435G>A (n.*435G>A)
c.3950G>A (p.Gly1317Glu)
c.3920G>A (p.Gly1307Glu)
c.4046G>A (p.Gly1349Glu)
c.3335G>A (p.Gly1112Glu)
c.3597+1047G>A (n.3597+1047G>A)
c.3547+1586G>A (n.3547+1586G>A)
c.3272G>A (p.Gly1091Glu)
c.3239G>A (p.Gly1080Glu)
c.3452G>A (p.Gly1151Glu)
Xg.53234737C>ACA413140053IQSEC2c.4108G>T (p.Gly1370Trp)
c.1453+1046G>T
c.962+1046G>T
c.316+1585G>T (n.316+1585G>T)
c.514+1585G>T (n.514+1585G>T)
c.*434G>T (n.*434G>T)
c.3949G>T (p.Gly1317Trp)
c.3919G>T (p.Gly1307Trp)
c.4045G>T (p.Gly1349Trp)
c.3334G>T (p.Gly1112Trp)
c.3597+1046G>T (n.3597+1046G>T)
c.3547+1585G>T (n.3547+1585G>T)
c.3271G>T (p.Gly1091Trp)
c.3238G>T (p.Gly1080Trp)
c.3451G>T (p.Gly1151Trp)
Xg.53234737C>GCA413140055IQSEC2c.4108G>C (p.Gly1370Arg)
c.1453+1046G>C
c.962+1046G>C
c.316+1585G>C (n.316+1585G>C)
c.514+1585G>C (n.514+1585G>C)
c.*434G>C (n.*434G>C)
c.3949G>C (p.Gly1317Arg)
c.3919G>C (p.Gly1307Arg)
c.4045G>C (p.Gly1349Arg)
c.3334G>C (p.Gly1112Arg)
c.3597+1046G>C (n.3597+1046G>C)
c.3547+1585G>C (n.3547+1585G>C)
c.3271G>C (p.Gly1091Arg)
c.3238G>C (p.Gly1080Arg)
c.3451G>C (p.Gly1151Arg)
Xg.53234737C>TCA413140057IQSEC2c.4108G>A (p.Gly1370Arg)
c.1453+1046G>A
c.962+1046G>A
c.316+1585G>A (n.316+1585G>A)
c.514+1585G>A (n.514+1585G>A)
c.*434G>A (n.*434G>A)
c.3949G>A (p.Gly1317Arg)
c.3919G>A (p.Gly1307Arg)
c.4045G>A (p.Gly1349Arg)
c.3334G>A (p.Gly1112Arg)
c.3597+1046G>A (n.3597+1046G>A)
c.3547+1585G>A (n.3547+1585G>A)
c.3271G>A (p.Gly1091Arg)
c.3238G>A (p.Gly1080Arg)
c.3451G>A (p.Gly1151Arg)
 gnomAD v4
Xg.53234738C>ACA516673548IQSEC2c.4107G>T (p.Val1369=)
c.1453+1045G>T
c.962+1045G>T
c.316+1584G>T (n.316+1584G>T)
c.514+1584G>T (n.514+1584G>T)
c.*433G>T (n.*433G>T)
c.3948G>T (p.Val1316=)
c.3918G>T (p.Val1306=)
c.4044G>T (p.Val1348=)
c.3333G>T (p.Val1111=)
c.3597+1045G>T (n.3597+1045G>T)
c.3547+1584G>T (n.3547+1584G>T)
c.3270G>T (p.Val1090=)
c.3237G>T (p.Val1079=)
c.3450G>T (p.Val1150=)
Xg.53234738C>GCA516673549IQSEC2c.4107G>C (p.Val1369=)
c.1453+1045G>C
c.962+1045G>C
c.316+1584G>C (n.316+1584G>C)
c.514+1584G>C (n.514+1584G>C)
c.*433G>C (n.*433G>C)
c.3948G>C (p.Val1316=)
c.3918G>C (p.Val1306=)
c.4044G>C (p.Val1348=)
c.3333G>C (p.Val1111=)
c.3597+1045G>C (n.3597+1045G>C)
c.3547+1584G>C (n.3547+1584G>C)
c.3270G>C (p.Val1090=)
c.3237G>C (p.Val1079=)
c.3450G>C (p.Val1150=)
Xg.53234738C>TCA516673550IQSEC2c.4107G>A (p.Val1369=)
c.1453+1045G>A
c.962+1045G>A
c.316+1584G>A (n.316+1584G>A)
c.514+1584G>A (n.514+1584G>A)
c.*433G>A (n.*433G>A)
c.3948G>A (p.Val1316=)
c.3918G>A (p.Val1306=)
c.4044G>A (p.Val1348=)
c.3333G>A (p.Val1111=)
c.3597+1045G>A (n.3597+1045G>A)
c.3547+1584G>A (n.3547+1584G>A)
c.3270G>A (p.Val1090=)
c.3237G>A (p.Val1079=)
c.3450G>A (p.Val1150=)
Xg.53234739A>CCA413140058IQSEC2c.4106T>G (p.Val1369Gly)
c.1453+1044T>G
c.962+1044T>G
c.316+1583T>G (n.316+1583T>G)
c.514+1583T>G (n.514+1583T>G)
c.*432T>G (n.*432T>G)
c.3947T>G (p.Val1316Gly)
c.3917T>G (p.Val1306Gly)
c.4043T>G (p.Val1348Gly)
c.3332T>G (p.Val1111Gly)
c.3597+1044T>G (n.3597+1044T>G)
c.3547+1583T>G (n.3547+1583T>G)
c.3269T>G (p.Val1090Gly)
c.3236T>G (p.Val1079Gly)
c.3449T>G (p.Val1150Gly)
Xg.53234739A>GCA413140061IQSEC2c.4106T>C (p.Val1369Ala)
c.1453+1044T>C
c.962+1044T>C
c.316+1583T>C (n.316+1583T>C)
c.514+1583T>C (n.514+1583T>C)
c.*432T>C (n.*432T>C)
c.3947T>C (p.Val1316Ala)
c.3917T>C (p.Val1306Ala)
c.4043T>C (p.Val1348Ala)
c.3332T>C (p.Val1111Ala)
c.3597+1044T>C (n.3597+1044T>C)
c.3547+1583T>C (n.3547+1583T>C)
c.3269T>C (p.Val1090Ala)
c.3236T>C (p.Val1079Ala)
c.3449T>C (p.Val1150Ala)
Xg.53234739A>TCA413140060IQSEC2c.4106T>A (p.Val1369Glu)
c.1453+1044T>A
c.962+1044T>A
c.316+1583T>A (n.316+1583T>A)
c.514+1583T>A (n.514+1583T>A)
c.*432T>A (n.*432T>A)
c.3947T>A (p.Val1316Glu)
c.3917T>A (p.Val1306Glu)
c.4043T>A (p.Val1348Glu)
c.3332T>A (p.Val1111Glu)
c.3597+1044T>A (n.3597+1044T>A)
c.3547+1583T>A (n.3547+1583T>A)
c.3269T>A (p.Val1090Glu)
c.3236T>A (p.Val1079Glu)
c.3449T>A (p.Val1150Glu)
Xg.53234739_53234742delinsACAGCA2429770574IQSEC2c.4103_4106delinsCTGT (p.Pro1368=)
c.1453+1041_1453+1044delinsCTGT
c.962+1041_962+1044delinsCTGT
c.316+1580_316+1583delinsCTGT (n.316+1580_316+1583delinsCTGT)
c.514+1580_514+1583delinsCTGT (n.514+1580_514+1583delinsCTGT)
c.*429_*432delinsCTGT (n.*429_*432delinsCTGT)
c.3944_3947delinsCTGT (p.Pro1315=)
c.3914_3917delinsCTGT (p.Pro1305=)
c.4040_4043delinsCTGT (p.Pro1347=)
c.3329_3332delinsCTGT (p.Pro1110=)
c.3597+1041_3597+1044delinsCTGT (n.3597+1041_3597+1044delinsCTGT)
c.3547+1580_3547+1583delinsCTGT (n.3547+1580_3547+1583delinsCTGT)
c.3266_3269delinsCTGT (p.Pro1089=)
c.3233_3236delinsCTGT (p.Pro1078=)
c.3446_3449delinsCTGT (p.Pro1149=)
Xg.53234740C>ACA413140064IQSEC2c.4105G>T (p.Val1369Leu)
c.1453+1043G>T
c.962+1043G>T
c.316+1582G>T (n.316+1582G>T)
c.514+1582G>T (n.514+1582G>T)
c.*431G>T (n.*431G>T)
c.3946G>T (p.Val1316Leu)
c.3916G>T (p.Val1306Leu)
c.4042G>T (p.Val1348Leu)
c.3331G>T (p.Val1111Leu)
c.3597+1043G>T (n.3597+1043G>T)
c.3547+1582G>T (n.3547+1582G>T)
c.3268G>T (p.Val1090Leu)
c.3235G>T (p.Val1079Leu)
c.3448G>T (p.Val1150Leu)
Xg.53234740C>GCA413140065IQSEC2c.4105G>C (p.Val1369Leu)
c.1453+1043G>C
c.962+1043G>C
c.316+1582G>C (n.316+1582G>C)
c.514+1582G>C (n.514+1582G>C)
c.*431G>C (n.*431G>C)
c.3946G>C (p.Val1316Leu)
c.3916G>C (p.Val1306Leu)
c.4042G>C (p.Val1348Leu)
c.3331G>C (p.Val1111Leu)
c.3597+1043G>C (n.3597+1043G>C)
c.3547+1582G>C (n.3547+1582G>C)
c.3268G>C (p.Val1090Leu)
c.3235G>C (p.Val1079Leu)
c.3448G>C (p.Val1150Leu)
Xg.53234740C>TCA413140066IQSEC2c.4105G>A (p.Val1369Met)
c.1453+1043G>A
c.962+1043G>A
c.316+1582G>A (n.316+1582G>A)
c.514+1582G>A (n.514+1582G>A)
c.*431G>A (n.*431G>A)
c.3946G>A (p.Val1316Met)
c.3916G>A (p.Val1306Met)
c.4042G>A (p.Val1348Met)
c.3331G>A (p.Val1111Met)
c.3597+1043G>A (n.3597+1043G>A)
c.3547+1582G>A (n.3547+1582G>A)
c.3268G>A (p.Val1090Met)
c.3235G>A (p.Val1079Met)
c.3448G>A (p.Val1150Met)
Xg.53234740_53234742delCA891844508IQSEC2c.4103_4105del (p.Pro1368_Val1369delinsLeu)
c.1453+1041_1453+1043del
c.962+1041_962+1043del
c.316+1580_316+1582del (n.316+1580_316+1582del)
c.514+1580_514+1582del (n.514+1580_514+1582del)
c.*429_*431del (n.*429_*431del)
c.3944_3946del (p.Pro1315_Val1316delinsLeu)
c.3914_3916del (p.Pro1305_Val1306delinsLeu)
c.4040_4042del (p.Pro1347_Val1348delinsLeu)
c.3329_3331del (p.Pro1110_Val1111delinsLeu)
c.3597+1041_3597+1043del (n.3597+1041_3597+1043del)
c.3547+1580_3547+1582del (n.3547+1580_3547+1582del)
c.3266_3268del (p.Pro1089_Val1090delinsLeu)
c.3233_3235del (p.Pro1078_Val1079delinsLeu)
c.3446_3448del (p.Pro1149_Val1150delinsLeu)
 ClinVar dbSNP
Xg.53234741A>CCA516673555IQSEC2c.4104T>G (p.Pro1368=)
c.1453+1042T>G
c.962+1042T>G
c.316+1581T>G (n.316+1581T>G)
c.514+1581T>G (n.514+1581T>G)
c.*430T>G (n.*430T>G)
c.3945T>G (p.Pro1315=)
c.3915T>G (p.Pro1305=)
c.4041T>G (p.Pro1347=)
c.3330T>G (p.Pro1110=)
c.3597+1042T>G (n.3597+1042T>G)
c.3547+1581T>G (n.3547+1581T>G)
c.3267T>G (p.Pro1089=)
c.3234T>G (p.Pro1078=)
c.3447T>G (p.Pro1149=)
Xg.53234741A>GCA516673553IQSEC2c.4104T>C (p.Pro1368=)
c.1453+1042T>C
c.962+1042T>C
c.316+1581T>C (n.316+1581T>C)
c.514+1581T>C (n.514+1581T>C)
c.*430T>C (n.*430T>C)
c.3945T>C (p.Pro1315=)
c.3915T>C (p.Pro1305=)
c.4041T>C (p.Pro1347=)
c.3330T>C (p.Pro1110=)
c.3597+1042T>C (n.3597+1042T>C)
c.3547+1581T>C (n.3547+1581T>C)
c.3267T>C (p.Pro1089=)
c.3234T>C (p.Pro1078=)
c.3447T>C (p.Pro1149=)
Xg.53234741A>TCA516673554IQSEC2c.4104T>A (p.Pro1368=)
c.1453+1042T>A
c.962+1042T>A
c.316+1581T>A (n.316+1581T>A)
c.514+1581T>A (n.514+1581T>A)
c.*430T>A (n.*430T>A)
c.3945T>A (p.Pro1315=)
c.3915T>A (p.Pro1305=)
c.4041T>A (p.Pro1347=)
c.3330T>A (p.Pro1110=)
c.3597+1042T>A (n.3597+1042T>A)
c.3547+1581T>A (n.3547+1581T>A)
c.3267T>A (p.Pro1089=)
c.3234T>A (p.Pro1078=)
c.3447T>A (p.Pro1149=)
 gnomAD v4
Xg.53234742G>ACA413140068IQSEC2c.4103C>T (p.Pro1368Leu)
c.1453+1041C>T
c.962+1041C>T
c.316+1580C>T (n.316+1580C>T)
c.514+1580C>T (n.514+1580C>T)
c.*429C>T (n.*429C>T)
c.3944C>T (p.Pro1315Leu)
c.3914C>T (p.Pro1305Leu)
c.4040C>T (p.Pro1347Leu)
c.3329C>T (p.Pro1110Leu)
c.3597+1041C>T (n.3597+1041C>T)
c.3547+1580C>T (n.3547+1580C>T)
c.3266C>T (p.Pro1089Leu)
c.3233C>T (p.Pro1078Leu)
c.3446C>T (p.Pro1149Leu)
Xg.53234742G>CCA413140070IQSEC2c.4103C>G (p.Pro1368Arg)
c.1453+1041C>G
c.962+1041C>G
c.316+1580C>G (n.316+1580C>G)
c.514+1580C>G (n.514+1580C>G)
c.*429C>G (n.*429C>G)
c.3944C>G (p.Pro1315Arg)
c.3914C>G (p.Pro1305Arg)
c.4040C>G (p.Pro1347Arg)
c.3329C>G (p.Pro1110Arg)
c.3597+1041C>G (n.3597+1041C>G)
c.3547+1580C>G (n.3547+1580C>G)
c.3266C>G (p.Pro1089Arg)
c.3233C>G (p.Pro1078Arg)
c.3446C>G (p.Pro1149Arg)
Xg.53234742G>TCA413140072IQSEC2c.4103C>A (p.Pro1368His)
c.1453+1041C>A
c.962+1041C>A
c.316+1580C>A (n.316+1580C>A)
c.514+1580C>A (n.514+1580C>A)
c.*429C>A (n.*429C>A)
c.3944C>A (p.Pro1315His)
c.3914C>A (p.Pro1305His)
c.4040C>A (p.Pro1347His)
c.3329C>A (p.Pro1110His)
c.3597+1041C>A (n.3597+1041C>A)
c.3547+1580C>A (n.3547+1580C>A)
c.3266C>A (p.Pro1089His)
c.3233C>A (p.Pro1078His)
c.3446C>A (p.Pro1149His)
 gnomAD v4
Xg.53234743G>ACA413140073IQSEC2c.4102C>T (p.Pro1368Ser)
c.1453+1040C>T
c.962+1040C>T
c.316+1579C>T (n.316+1579C>T)
c.514+1579C>T (n.514+1579C>T)
c.*428C>T (n.*428C>T)
c.3943C>T (p.Pro1315Ser)
c.3913C>T (p.Pro1305Ser)
c.4039C>T (p.Pro1347Ser)
c.3328C>T (p.Pro1110Ser)
c.3597+1040C>T (n.3597+1040C>T)
c.3547+1579C>T (n.3547+1579C>T)
c.3265C>T (p.Pro1089Ser)
c.3232C>T (p.Pro1078Ser)
c.3445C>T (p.Pro1149Ser)
 gnomAD v4
Xg.53234743G>CCA413140075IQSEC2c.4102C>G (p.Pro1368Ala)
c.1453+1040C>G
c.962+1040C>G
c.316+1579C>G (n.316+1579C>G)
c.514+1579C>G (n.514+1579C>G)
c.*428C>G (n.*428C>G)
c.3943C>G (p.Pro1315Ala)
c.3913C>G (p.Pro1305Ala)
c.4039C>G (p.Pro1347Ala)
c.3328C>G (p.Pro1110Ala)
c.3597+1040C>G (n.3597+1040C>G)
c.3547+1579C>G (n.3547+1579C>G)
c.3265C>G (p.Pro1089Ala)
c.3232C>G (p.Pro1078Ala)
c.3445C>G (p.Pro1149Ala)
Xg.53234743G>TCA413140077IQSEC2c.4102C>A (p.Pro1368Thr)
c.1453+1040C>A
c.962+1040C>A
c.316+1579C>A (n.316+1579C>A)
c.514+1579C>A (n.514+1579C>A)
c.*428C>A (n.*428C>A)
c.3943C>A (p.Pro1315Thr)
c.3913C>A (p.Pro1305Thr)
c.4039C>A (p.Pro1347Thr)
c.3328C>A (p.Pro1110Thr)
c.3597+1040C>A (n.3597+1040C>A)
c.3547+1579C>A (n.3547+1579C>A)
c.3265C>A (p.Pro1089Thr)
c.3232C>A (p.Pro1078Thr)
c.3445C>A (p.Pro1149Thr)
Xg.53234744T>ACA516673559IQSEC2c.4101A>T (p.Pro1367=)
c.1453+1039A>T
c.962+1039A>T
c.316+1578A>T (n.316+1578A>T)
c.514+1578A>T (n.514+1578A>T)
c.*427A>T (n.*427A>T)
c.3942A>T (p.Pro1314=)
c.3912A>T (p.Pro1304=)
c.4038A>T (p.Pro1346=)
c.3327A>T (p.Pro1109=)
c.3597+1039A>T (n.3597+1039A>T)
c.3547+1578A>T (n.3547+1578A>T)
c.3264A>T (p.Pro1088=)
c.3231A>T (p.Pro1077=)
c.3444A>T (p.Pro1148=)
Xg.53234744T>CCA516673560IQSEC2c.4101A>G (p.Pro1367=)
c.1453+1039A>G
c.962+1039A>G
c.316+1578A>G (n.316+1578A>G)
c.514+1578A>G (n.514+1578A>G)
c.*427A>G (n.*427A>G)
c.3942A>G (p.Pro1314=)
c.3912A>G (p.Pro1304=)
c.4038A>G (p.Pro1346=)
c.3327A>G (p.Pro1109=)
c.3597+1039A>G (n.3597+1039A>G)
c.3547+1578A>G (n.3547+1578A>G)
c.3264A>G (p.Pro1088=)
c.3231A>G (p.Pro1077=)
c.3444A>G (p.Pro1148=)
Xg.53234744T>GCA516673561IQSEC2c.4101A>C (p.Pro1367=)
c.1453+1039A>C
c.962+1039A>C
c.316+1578A>C (n.316+1578A>C)
c.514+1578A>C (n.514+1578A>C)
c.*427A>C (n.*427A>C)
c.3942A>C (p.Pro1314=)
c.3912A>C (p.Pro1304=)
c.4038A>C (p.Pro1346=)
c.3327A>C (p.Pro1109=)
c.3597+1039A>C (n.3597+1039A>C)
c.3547+1578A>C (n.3547+1578A>C)
c.3264A>C (p.Pro1088=)
c.3231A>C (p.Pro1077=)
c.3444A>C (p.Pro1148=)
Xg.53234745G>ACA413140080IQSEC2c.4100C>T (p.Pro1367Leu)
c.1453+1038C>T
c.962+1038C>T
c.316+1577C>T (n.316+1577C>T)
c.514+1577C>T (n.514+1577C>T)
c.*426C>T (n.*426C>T)
c.3941C>T (p.Pro1314Leu)
c.3911C>T (p.Pro1304Leu)
c.4037C>T (p.Pro1346Leu)
c.3326C>T (p.Pro1109Leu)
c.3597+1038C>T (n.3597+1038C>T)
c.3547+1577C>T (n.3547+1577C>T)
c.3263C>T (p.Pro1088Leu)
c.3230C>T (p.Pro1077Leu)
c.3443C>T (p.Pro1148Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234745G>CCA413140082IQSEC2c.4100C>G (p.Pro1367Arg)
c.1453+1038C>G
c.962+1038C>G
c.316+1577C>G (n.316+1577C>G)
c.514+1577C>G (n.514+1577C>G)
c.*426C>G (n.*426C>G)
c.3941C>G (p.Pro1314Arg)
c.3911C>G (p.Pro1304Arg)
c.4037C>G (p.Pro1346Arg)
c.3326C>G (p.Pro1109Arg)
c.3597+1038C>G (n.3597+1038C>G)
c.3547+1577C>G (n.3547+1577C>G)
c.3263C>G (p.Pro1088Arg)
c.3230C>G (p.Pro1077Arg)
c.3443C>G (p.Pro1148Arg)
Xg.53234745G=CA2429770575IQSEC2c.4100C= (p.Pro1367=)
c.1453+1038C=
c.962+1038C=
c.316+1577C= (n.316+1577C=)
c.514+1577C= (n.514+1577C=)
c.*426C= (n.*426C=)
c.3941C= (p.Pro1314=)
c.3911C= (p.Pro1304=)
c.4037C= (p.Pro1346=)
c.3326C= (p.Pro1109=)
c.3597+1038C= (n.3597+1038C=)
c.3547+1577C= (n.3547+1577C=)
c.3263C= (p.Pro1088=)
c.3230C= (p.Pro1077=)
c.3443C= (p.Pro1148=)
Xg.53234745G>TCA413140078IQSEC2c.4100C>A (p.Pro1367Gln)
c.1453+1038C>A
c.962+1038C>A
c.316+1577C>A (n.316+1577C>A)
c.514+1577C>A (n.514+1577C>A)
c.*426C>A (n.*426C>A)
c.3941C>A (p.Pro1314Gln)
c.3911C>A (p.Pro1304Gln)
c.4037C>A (p.Pro1346Gln)
c.3326C>A (p.Pro1109Gln)
c.3597+1038C>A (n.3597+1038C>A)
c.3547+1577C>A (n.3547+1577C>A)
c.3263C>A (p.Pro1088Gln)
c.3230C>A (p.Pro1077Gln)
c.3443C>A (p.Pro1148Gln)
Xg.53234746G>ACA413140084IQSEC2c.4099C>T (p.Pro1367Ser)
c.1453+1037C>T
c.962+1037C>T
c.316+1576C>T (n.316+1576C>T)
c.514+1576C>T (n.514+1576C>T)
c.*425C>T (n.*425C>T)
c.3940C>T (p.Pro1314Ser)
c.3910C>T (p.Pro1304Ser)
c.4036C>T (p.Pro1346Ser)
c.3325C>T (p.Pro1109Ser)
c.3597+1037C>T (n.3597+1037C>T)
c.3547+1576C>T (n.3547+1576C>T)
c.3262C>T (p.Pro1088Ser)
c.3229C>T (p.Pro1077Ser)
c.3442C>T (p.Pro1148Ser)
 gnomAD v4
Xg.53234746G>CCA413140085IQSEC2c.4099C>G (p.Pro1367Ala)
c.1453+1037C>G
c.962+1037C>G
c.316+1576C>G (n.316+1576C>G)
c.514+1576C>G (n.514+1576C>G)
c.*425C>G (n.*425C>G)
c.3940C>G (p.Pro1314Ala)
c.3910C>G (p.Pro1304Ala)
c.4036C>G (p.Pro1346Ala)
c.3325C>G (p.Pro1109Ala)
c.3597+1037C>G (n.3597+1037C>G)
c.3547+1576C>G (n.3547+1576C>G)
c.3262C>G (p.Pro1088Ala)
c.3229C>G (p.Pro1077Ala)
c.3442C>G (p.Pro1148Ala)
Xg.53234746G>TCA413140087IQSEC2c.4099C>A (p.Pro1367Thr)
c.1453+1037C>A
c.962+1037C>A
c.316+1576C>A (n.316+1576C>A)
c.514+1576C>A (n.514+1576C>A)
c.*425C>A (n.*425C>A)
c.3940C>A (p.Pro1314Thr)
c.3910C>A (p.Pro1304Thr)
c.4036C>A (p.Pro1346Thr)
c.3325C>A (p.Pro1109Thr)
c.3597+1037C>A (n.3597+1037C>A)
c.3547+1576C>A (n.3547+1576C>A)
c.3262C>A (p.Pro1088Thr)
c.3229C>A (p.Pro1077Thr)
c.3442C>A (p.Pro1148Thr)
Xg.53234747G>ACA516673562IQSEC2c.4098C>T (p.Ala1366=)
c.1453+1036C>T
c.962+1036C>T
c.316+1575C>T (n.316+1575C>T)
c.514+1575C>T (n.514+1575C>T)
c.*424C>T (n.*424C>T)
c.3939C>T (p.Ala1313=)
c.3909C>T (p.Ala1303=)
c.4035C>T (p.Ala1345=)
c.3324C>T (p.Ala1108=)
c.3597+1036C>T (n.3597+1036C>T)
c.3547+1575C>T (n.3547+1575C>T)
c.3261C>T (p.Ala1087=)
c.3228C>T (p.Ala1076=)
c.3441C>T (p.Ala1147=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234747G>CCA516673563IQSEC2c.4098C>G (p.Ala1366=)
c.1453+1036C>G
c.962+1036C>G
c.316+1575C>G (n.316+1575C>G)
c.514+1575C>G (n.514+1575C>G)
c.*424C>G (n.*424C>G)
c.3939C>G (p.Ala1313=)
c.3909C>G (p.Ala1303=)
c.4035C>G (p.Ala1345=)
c.3324C>G (p.Ala1108=)
c.3597+1036C>G (n.3597+1036C>G)
c.3547+1575C>G (n.3547+1575C>G)
c.3261C>G (p.Ala1087=)
c.3228C>G (p.Ala1076=)
c.3441C>G (p.Ala1147=)
Xg.53234747G=CA2429770576IQSEC2c.4098C= (p.Ala1366=)
c.1453+1036C=
c.962+1036C=
c.316+1575C= (n.316+1575C=)
c.514+1575C= (n.514+1575C=)
c.*424C= (n.*424C=)
c.3939C= (p.Ala1313=)
c.3909C= (p.Ala1303=)
c.4035C= (p.Ala1345=)
c.3324C= (p.Ala1108=)
c.3597+1036C= (n.3597+1036C=)
c.3547+1575C= (n.3547+1575C=)
c.3261C= (p.Ala1087=)
c.3228C= (p.Ala1076=)
c.3441C= (p.Ala1147=)
Xg.53234747G>TCA516673564IQSEC2c.4098C>A (p.Ala1366=)
c.1453+1036C>A
c.962+1036C>A
c.316+1575C>A (n.316+1575C>A)
c.514+1575C>A (n.514+1575C>A)
c.*424C>A (n.*424C>A)
c.3939C>A (p.Ala1313=)
c.3909C>A (p.Ala1303=)
c.4035C>A (p.Ala1345=)
c.3324C>A (p.Ala1108=)
c.3597+1036C>A (n.3597+1036C>A)
c.3547+1575C>A (n.3547+1575C>A)
c.3261C>A (p.Ala1087=)
c.3228C>A (p.Ala1076=)
c.3441C>A (p.Ala1147=)
Xg.53234748G>ACA413140088IQSEC2c.4097C>T (p.Ala1366Val)
c.1453+1035C>T
c.962+1035C>T
c.316+1574C>T (n.316+1574C>T)
c.514+1574C>T (n.514+1574C>T)
c.*423C>T (n.*423C>T)
c.3938C>T (p.Ala1313Val)
c.3908C>T (p.Ala1303Val)
c.4034C>T (p.Ala1345Val)
c.3323C>T (p.Ala1108Val)
c.3597+1035C>T (n.3597+1035C>T)
c.3547+1574C>T (n.3547+1574C>T)
c.3260C>T (p.Ala1087Val)
c.3227C>T (p.Ala1076Val)
c.3440C>T (p.Ala1147Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234748G>CCA413140090IQSEC2c.4097C>G (p.Ala1366Gly)
c.1453+1035C>G
c.962+1035C>G
c.316+1574C>G (n.316+1574C>G)
c.514+1574C>G (n.514+1574C>G)
c.*423C>G (n.*423C>G)
c.3938C>G (p.Ala1313Gly)
c.3908C>G (p.Ala1303Gly)
c.4034C>G (p.Ala1345Gly)
c.3323C>G (p.Ala1108Gly)
c.3597+1035C>G (n.3597+1035C>G)
c.3547+1574C>G (n.3547+1574C>G)
c.3260C>G (p.Ala1087Gly)
c.3227C>G (p.Ala1076Gly)
c.3440C>G (p.Ala1147Gly)
Xg.53234748G=CA2429770577IQSEC2c.4097C= (p.Ala1366=)
c.1453+1035C=
c.962+1035C=
c.316+1574C= (n.316+1574C=)
c.514+1574C= (n.514+1574C=)
c.*423C= (n.*423C=)
c.3938C= (p.Ala1313=)
c.3908C= (p.Ala1303=)
c.4034C= (p.Ala1345=)
c.3323C= (p.Ala1108=)
c.3597+1035C= (n.3597+1035C=)
c.3547+1574C= (n.3547+1574C=)
c.3260C= (p.Ala1087=)
c.3227C= (p.Ala1076=)
c.3440C= (p.Ala1147=)
Xg.53234748G>TCA413140092IQSEC2c.4097C>A (p.Ala1366Asp)
c.1453+1035C>A
c.962+1035C>A
c.316+1574C>A (n.316+1574C>A)
c.514+1574C>A (n.514+1574C>A)
c.*423C>A (n.*423C>A)
c.3938C>A (p.Ala1313Asp)
c.3908C>A (p.Ala1303Asp)
c.4034C>A (p.Ala1345Asp)
c.3323C>A (p.Ala1108Asp)
c.3597+1035C>A (n.3597+1035C>A)
c.3547+1574C>A (n.3547+1574C>A)
c.3260C>A (p.Ala1087Asp)
c.3227C>A (p.Ala1076Asp)
c.3440C>A (p.Ala1147Asp)
Xg.53234749C>ACA413140093IQSEC2c.4096G>T (p.Ala1366Ser)
c.1453+1034G>T
c.962+1034G>T
c.316+1573G>T (n.316+1573G>T)
c.514+1573G>T (n.514+1573G>T)
c.*422G>T (n.*422G>T)
c.3937G>T (p.Ala1313Ser)
c.3907G>T (p.Ala1303Ser)
c.4033G>T (p.Ala1345Ser)
c.3322G>T (p.Ala1108Ser)
c.3597+1034G>T (n.3597+1034G>T)
c.3547+1573G>T (n.3547+1573G>T)
c.3259G>T (p.Ala1087Ser)
c.3226G>T (p.Ala1076Ser)
c.3439G>T (p.Ala1147Ser)
Xg.53234749C>GCA413140095IQSEC2c.4096G>C (p.Ala1366Pro)
c.1453+1034G>C
c.962+1034G>C
c.316+1573G>C (n.316+1573G>C)
c.514+1573G>C (n.514+1573G>C)
c.*422G>C (n.*422G>C)
c.3937G>C (p.Ala1313Pro)
c.3907G>C (p.Ala1303Pro)
c.4033G>C (p.Ala1345Pro)
c.3322G>C (p.Ala1108Pro)
c.3597+1034G>C (n.3597+1034G>C)
c.3547+1573G>C (n.3547+1573G>C)
c.3259G>C (p.Ala1087Pro)
c.3226G>C (p.Ala1076Pro)
c.3439G>C (p.Ala1147Pro)
Xg.53234749C>TCA413140098IQSEC2c.4096G>A (p.Ala1366Thr)
c.1453+1034G>A
c.962+1034G>A
c.316+1573G>A (n.316+1573G>A)
c.514+1573G>A (n.514+1573G>A)
c.*422G>A (n.*422G>A)
c.3937G>A (p.Ala1313Thr)
c.3907G>A (p.Ala1303Thr)
c.4033G>A (p.Ala1345Thr)
c.3322G>A (p.Ala1108Thr)
c.3597+1034G>A (n.3597+1034G>A)
c.3547+1573G>A (n.3547+1573G>A)
c.3259G>A (p.Ala1087Thr)
c.3226G>A (p.Ala1076Thr)
c.3439G>A (p.Ala1147Thr)
 gnomAD v4
Xg.53234750T>ACA516673566IQSEC2c.4095A>T (p.Ser1365=)
c.1453+1033A>T
c.962+1033A>T
c.316+1572A>T (n.316+1572A>T)
c.514+1572A>T (n.514+1572A>T)
c.*421A>T (n.*421A>T)
c.3936A>T (p.Ser1312=)
c.3906A>T (p.Ser1302=)
c.4032A>T (p.Ser1344=)
c.3321A>T (p.Ser1107=)
c.3597+1033A>T (n.3597+1033A>T)
c.3547+1572A>T (n.3547+1572A>T)
c.3258A>T (p.Ser1086=)
c.3225A>T (p.Ser1075=)
c.3438A>T (p.Ser1146=)
Xg.53234750T>CCA516673567IQSEC2c.4095A>G (p.Ser1365=)
c.1453+1033A>G
c.962+1033A>G
c.316+1572A>G (n.316+1572A>G)
c.514+1572A>G (n.514+1572A>G)
c.*421A>G (n.*421A>G)
c.3936A>G (p.Ser1312=)
c.3906A>G (p.Ser1302=)
c.4032A>G (p.Ser1344=)
c.3321A>G (p.Ser1107=)
c.3597+1033A>G (n.3597+1033A>G)
c.3547+1572A>G (n.3547+1572A>G)
c.3258A>G (p.Ser1086=)
c.3225A>G (p.Ser1075=)
c.3438A>G (p.Ser1146=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234750T>GCA516673568IQSEC2c.4095A>C (p.Ser1365=)
c.1453+1033A>C
c.962+1033A>C
c.316+1572A>C (n.316+1572A>C)
c.514+1572A>C (n.514+1572A>C)
c.*421A>C (n.*421A>C)
c.3936A>C (p.Ser1312=)
c.3906A>C (p.Ser1302=)
c.4032A>C (p.Ser1344=)
c.3321A>C (p.Ser1107=)
c.3597+1033A>C (n.3597+1033A>C)
c.3547+1572A>C (n.3547+1572A>C)
c.3258A>C (p.Ser1086=)
c.3225A>C (p.Ser1075=)
c.3438A>C (p.Ser1146=)
Xg.53234750T=CA2429770578IQSEC2c.4095A= (p.Ser1365=)
c.1453+1033A=
c.962+1033A=
c.316+1572A= (n.316+1572A=)
c.514+1572A= (n.514+1572A=)
c.*421A= (n.*421A=)
c.3936A= (p.Ser1312=)
c.3906A= (p.Ser1302=)
c.4032A= (p.Ser1344=)
c.3321A= (p.Ser1107=)
c.3597+1033A= (n.3597+1033A=)
c.3547+1572A= (n.3547+1572A=)
c.3258A= (p.Ser1086=)
c.3225A= (p.Ser1075=)
c.3438A= (p.Ser1146=)
Xg.53234751G>ACA413140101IQSEC2c.4094C>T (p.Ser1365Leu)
c.1453+1032C>T
c.962+1032C>T
c.316+1571C>T (n.316+1571C>T)
c.514+1571C>T (n.514+1571C>T)
c.*420C>T (n.*420C>T)
c.3935C>T (p.Ser1312Leu)
c.3905C>T (p.Ser1302Leu)
c.4031C>T (p.Ser1344Leu)
c.3320C>T (p.Ser1107Leu)
c.3597+1032C>T (n.3597+1032C>T)
c.3547+1571C>T (n.3547+1571C>T)
c.3257C>T (p.Ser1086Leu)
c.3224C>T (p.Ser1075Leu)
c.3437C>T (p.Ser1146Leu)
 ClinVar dbSNP gnomAD v4
Xg.53234751G>CCA413140103IQSEC2c.4094C>G (p.Ser1365Ter)
c.1453+1032C>G
c.962+1032C>G
c.316+1571C>G (n.316+1571C>G)
c.514+1571C>G (n.514+1571C>G)
c.*420C>G (n.*420C>G)
c.3935C>G (p.Ser1312Ter)
c.3905C>G (p.Ser1302Ter)
c.4031C>G (p.Ser1344Ter)
c.3320C>G (p.Ser1107Ter)
c.3597+1032C>G (n.3597+1032C>G)
c.3547+1571C>G (n.3547+1571C>G)
c.3257C>G (p.Ser1086Ter)
c.3224C>G (p.Ser1075Ter)
c.3437C>G (p.Ser1146Ter)
Xg.53234751G=CA2429770579IQSEC2c.4094C= (p.Ser1365=)
c.1453+1032C=
c.962+1032C=
c.316+1571C= (n.316+1571C=)
c.514+1571C= (n.514+1571C=)
c.*420C= (n.*420C=)
c.3935C= (p.Ser1312=)
c.3905C= (p.Ser1302=)
c.4031C= (p.Ser1344=)
c.3320C= (p.Ser1107=)
c.3597+1032C= (n.3597+1032C=)
c.3547+1571C= (n.3547+1571C=)
c.3257C= (p.Ser1086=)
c.3224C= (p.Ser1075=)
c.3437C= (p.Ser1146=)
Xg.53234751G>TCA413140104IQSEC2c.4094C>A (p.Ser1365Ter)
c.1453+1032C>A
c.962+1032C>A
c.316+1571C>A (n.316+1571C>A)
c.514+1571C>A (n.514+1571C>A)
c.*420C>A (n.*420C>A)
c.3935C>A (p.Ser1312Ter)
c.3905C>A (p.Ser1302Ter)
c.4031C>A (p.Ser1344Ter)
c.3320C>A (p.Ser1107Ter)
c.3597+1032C>A (n.3597+1032C>A)
c.3547+1571C>A (n.3547+1571C>A)
c.3257C>A (p.Ser1086Ter)
c.3224C>A (p.Ser1075Ter)
c.3437C>A (p.Ser1146Ter)
Xg.53234752A>CCA413140109IQSEC2c.4093T>G (p.Ser1365Ala)
c.1453+1031T>G
c.962+1031T>G
c.316+1570T>G (n.316+1570T>G)
c.514+1570T>G (n.514+1570T>G)
c.*419T>G (n.*419T>G)
c.3934T>G (p.Ser1312Ala)
c.3904T>G (p.Ser1302Ala)
c.4030T>G (p.Ser1344Ala)
c.3319T>G (p.Ser1107Ala)
c.3597+1031T>G (n.3597+1031T>G)
c.3547+1570T>G (n.3547+1570T>G)
c.3256T>G (p.Ser1086Ala)
c.3223T>G (p.Ser1075Ala)
c.3436T>G (p.Ser1146Ala)
Xg.53234752A>GCA413140106IQSEC2c.4093T>C (p.Ser1365Pro)
c.1453+1031T>C
c.962+1031T>C
c.316+1570T>C (n.316+1570T>C)
c.514+1570T>C (n.514+1570T>C)
c.*419T>C (n.*419T>C)
c.3934T>C (p.Ser1312Pro)
c.3904T>C (p.Ser1302Pro)
c.4030T>C (p.Ser1344Pro)
c.3319T>C (p.Ser1107Pro)
c.3597+1031T>C (n.3597+1031T>C)
c.3547+1570T>C (n.3547+1570T>C)
c.3256T>C (p.Ser1086Pro)
c.3223T>C (p.Ser1075Pro)
c.3436T>C (p.Ser1146Pro)
 gnomAD v4
Xg.53234752A>TCA413140107IQSEC2c.4093T>A (p.Ser1365Thr)
c.1453+1031T>A
c.962+1031T>A
c.316+1570T>A (n.316+1570T>A)
c.514+1570T>A (n.514+1570T>A)
c.*419T>A (n.*419T>A)
c.3934T>A (p.Ser1312Thr)
c.3904T>A (p.Ser1302Thr)
c.4030T>A (p.Ser1344Thr)
c.3319T>A (p.Ser1107Thr)
c.3597+1031T>A (n.3597+1031T>A)
c.3547+1570T>A (n.3547+1570T>A)
c.3256T>A (p.Ser1086Thr)
c.3223T>A (p.Ser1075Thr)
c.3436T>A (p.Ser1146Thr)
Xg.53234753G>ACA516673570IQSEC2c.4092C>T (p.Ala1364=)
c.1453+1030C>T
c.962+1030C>T
c.316+1569C>T (n.316+1569C>T)
c.514+1569C>T (n.514+1569C>T)
c.*418C>T (n.*418C>T)
c.3933C>T (p.Ala1311=)
c.3903C>T (p.Ala1301=)
c.4029C>T (p.Ala1343=)
c.3318C>T (p.Ala1106=)
c.3597+1030C>T (n.3597+1030C>T)
c.3547+1569C>T (n.3547+1569C>T)
c.3255C>T (p.Ala1085=)
c.3222C>T (p.Ala1074=)
c.3435C>T (p.Ala1145=)
Xg.53234753G>CCA516673572IQSEC2c.4092C>G (p.Ala1364=)
c.1453+1030C>G
c.962+1030C>G
c.316+1569C>G (n.316+1569C>G)
c.514+1569C>G (n.514+1569C>G)
c.*418C>G (n.*418C>G)
c.3933C>G (p.Ala1311=)
c.3903C>G (p.Ala1301=)
c.4029C>G (p.Ala1343=)
c.3318C>G (p.Ala1106=)
c.3597+1030C>G (n.3597+1030C>G)
c.3547+1569C>G (n.3547+1569C>G)
c.3255C>G (p.Ala1085=)
c.3222C>G (p.Ala1074=)
c.3435C>G (p.Ala1145=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53234753G=CA2429770580IQSEC2c.4092C= (p.Ala1364=)
c.1453+1030C=
c.962+1030C=
c.316+1569C= (n.316+1569C=)
c.514+1569C= (n.514+1569C=)
c.*418C= (n.*418C=)
c.3933C= (p.Ala1311=)
c.3903C= (p.Ala1301=)
c.4029C= (p.Ala1343=)
c.3318C= (p.Ala1106=)
c.3597+1030C= (n.3597+1030C=)
c.3547+1569C= (n.3547+1569C=)
c.3255C= (p.Ala1085=)
c.3222C= (p.Ala1074=)
c.3435C= (p.Ala1145=)
Xg.53234753G>TCA516673573IQSEC2c.4092C>A (p.Ala1364=)
c.1453+1030C>A
c.962+1030C>A
c.316+1569C>A (n.316+1569C>A)
c.514+1569C>A (n.514+1569C>A)
c.*418C>A (n.*418C>A)
c.3933C>A (p.Ala1311=)
c.3903C>A (p.Ala1301=)
c.4029C>A (p.Ala1343=)
c.3318C>A (p.Ala1106=)
c.3597+1030C>A (n.3597+1030C>A)
c.3547+1569C>A (n.3547+1569C>A)
c.3255C>A (p.Ala1085=)
c.3222C>A (p.Ala1074=)
c.3435C>A (p.Ala1145=)
 gnomAD v4
Xg.53234754G>ACA413140111IQSEC2c.4091C>T (p.Ala1364Val)
c.1453+1029C>T
c.962+1029C>T
c.316+1568C>T (n.316+1568C>T)
c.514+1568C>T (n.514+1568C>T)
c.*417C>T (n.*417C>T)
c.3932C>T (p.Ala1311Val)
c.3902C>T (p.Ala1301Val)
c.4028C>T (p.Ala1343Val)
c.3317C>T (p.Ala1106Val)
c.3597+1029C>T (n.3597+1029C>T)
c.3547+1568C>T (n.3547+1568C>T)
c.3254C>T (p.Ala1085Val)
c.3221C>T (p.Ala1074Val)
c.3434C>T (p.Ala1145Val)
Xg.53234754G>CCA413140112IQSEC2c.4091C>G (p.Ala1364Gly)
c.1453+1029C>G
c.962+1029C>G
c.316+1568C>G (n.316+1568C>G)
c.514+1568C>G (n.514+1568C>G)
c.*417C>G (n.*417C>G)
c.3932C>G (p.Ala1311Gly)
c.3902C>G (p.Ala1301Gly)
c.4028C>G (p.Ala1343Gly)
c.3317C>G (p.Ala1106Gly)
c.3597+1029C>G (n.3597+1029C>G)
c.3547+1568C>G (n.3547+1568C>G)
c.3254C>G (p.Ala1085Gly)
c.3221C>G (p.Ala1074Gly)
c.3434C>G (p.Ala1145Gly)
Xg.53234754G>TCA413140114IQSEC2c.4091C>A (p.Ala1364Asp)
c.1453+1029C>A
c.962+1029C>A
c.316+1568C>A (n.316+1568C>A)
c.514+1568C>A (n.514+1568C>A)
c.*417C>A (n.*417C>A)
c.3932C>A (p.Ala1311Asp)
c.3902C>A (p.Ala1301Asp)
c.4028C>A (p.Ala1343Asp)
c.3317C>A (p.Ala1106Asp)
c.3597+1029C>A (n.3597+1029C>A)
c.3547+1568C>A (n.3547+1568C>A)
c.3254C>A (p.Ala1085Asp)
c.3221C>A (p.Ala1074Asp)
c.3434C>A (p.Ala1145Asp)
 gnomAD v4
Xg.53234755C>ACA413140116IQSEC2c.4090G>T (p.Ala1364Ser)
c.1453+1028G>T
c.962+1028G>T
c.316+1567G>T (n.316+1567G>T)
c.514+1567G>T (n.514+1567G>T)
c.*416G>T (n.*416G>T)
c.3931G>T (p.Ala1311Ser)
c.3901G>T (p.Ala1301Ser)
c.4027G>T (p.Ala1343Ser)
c.3316G>T (p.Ala1106Ser)
c.3597+1028G>T (n.3597+1028G>T)
c.3547+1567G>T (n.3547+1567G>T)
c.3253G>T (p.Ala1085Ser)
c.3220G>T (p.Ala1074Ser)
c.3433G>T (p.Ala1145Ser)
 gnomAD v4
Xg.53234755C=CA2429770581IQSEC2c.4090G= (p.Ala1364=)
c.1453+1028G=
c.962+1028G=
c.316+1567G= (n.316+1567G=)
c.514+1567G= (n.514+1567G=)
c.*416G= (n.*416G=)
c.3931G= (p.Ala1311=)
c.3901G= (p.Ala1301=)
c.4027G= (p.Ala1343=)
c.3316G= (p.Ala1106=)
c.3597+1028G= (n.3597+1028G=)
c.3547+1567G= (n.3547+1567G=)
c.3253G= (p.Ala1085=)
c.3220G= (p.Ala1074=)
c.3433G= (p.Ala1145=)
Xg.53234755C>GCA413140117IQSEC2c.4090G>C (p.Ala1364Pro)
c.1453+1028G>C
c.962+1028G>C
c.316+1567G>C (n.316+1567G>C)
c.514+1567G>C (n.514+1567G>C)
c.*416G>C (n.*416G>C)
c.3931G>C (p.Ala1311Pro)
c.3901G>C (p.Ala1301Pro)
c.4027G>C (p.Ala1343Pro)
c.3316G>C (p.Ala1106Pro)
c.3597+1028G>C (n.3597+1028G>C)
c.3547+1567G>C (n.3547+1567G>C)
c.3253G>C (p.Ala1085Pro)
c.3220G>C (p.Ala1074Pro)
c.3433G>C (p.Ala1145Pro)
Xg.53234755C>TCA413140119IQSEC2c.4090G>A (p.Ala1364Thr)
c.1453+1028G>A
c.962+1028G>A
c.316+1567G>A (n.316+1567G>A)
c.514+1567G>A (n.514+1567G>A)
c.*416G>A (n.*416G>A)
c.3931G>A (p.Ala1311Thr)
c.3901G>A (p.Ala1301Thr)
c.4027G>A (p.Ala1343Thr)
c.3316G>A (p.Ala1106Thr)
c.3597+1028G>A (n.3597+1028G>A)
c.3547+1567G>A (n.3547+1567G>A)
c.3253G>A (p.Ala1085Thr)
c.3220G>A (p.Ala1074Thr)
c.3433G>A (p.Ala1145Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.53234756G>ACA329162063IQSEC2c.4089C>T (p.Pro1363=)
c.1453+1027C>T
c.962+1027C>T
c.316+1566C>T (n.316+1566C>T)
c.514+1566C>T (n.514+1566C>T)
c.*415C>T (n.*415C>T)
c.3930C>T (p.Pro1310=)
c.3900C>T (p.Pro1300=)
c.4026C>T (p.Pro1342=)
c.3315C>T (p.Pro1105=)
c.3597+1027C>T (n.3597+1027C>T)
c.3547+1566C>T (n.3547+1566C>T)
c.3252C>T (p.Pro1084=)
c.3219C>T (p.Pro1073=)
c.3432C>T (p.Pro1144=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234756G>CCA516673575IQSEC2c.4089C>G (p.Pro1363=)
c.1453+1027C>G
c.962+1027C>G
c.316+1566C>G (n.316+1566C>G)
c.514+1566C>G (n.514+1566C>G)
c.*415C>G (n.*415C>G)
c.3930C>G (p.Pro1310=)
c.3900C>G (p.Pro1300=)
c.4026C>G (p.Pro1342=)
c.3315C>G (p.Pro1105=)
c.3597+1027C>G (n.3597+1027C>G)
c.3547+1566C>G (n.3547+1566C>G)
c.3252C>G (p.Pro1084=)
c.3219C>G (p.Pro1073=)
c.3432C>G (p.Pro1144=)
 dbSNP
Xg.53234756G=CA2429770582IQSEC2c.4089C= (p.Pro1363=)
c.1453+1027C=
c.962+1027C=
c.316+1566C= (n.316+1566C=)
c.514+1566C= (n.514+1566C=)
c.*415C= (n.*415C=)
c.3930C= (p.Pro1310=)
c.3900C= (p.Pro1300=)
c.4026C= (p.Pro1342=)
c.3315C= (p.Pro1105=)
c.3597+1027C= (n.3597+1027C=)
c.3547+1566C= (n.3547+1566C=)
c.3252C= (p.Pro1084=)
c.3219C= (p.Pro1073=)
c.3432C= (p.Pro1144=)
Xg.53234756G>TCA516673576IQSEC2c.4089C>A (p.Pro1363=)
c.1453+1027C>A
c.962+1027C>A
c.316+1566C>A (n.316+1566C>A)
c.514+1566C>A (n.514+1566C>A)
c.*415C>A (n.*415C>A)
c.3930C>A (p.Pro1310=)
c.3900C>A (p.Pro1300=)
c.4026C>A (p.Pro1342=)
c.3315C>A (p.Pro1105=)
c.3597+1027C>A (n.3597+1027C>A)
c.3547+1566C>A (n.3547+1566C>A)
c.3252C>A (p.Pro1084=)
c.3219C>A (p.Pro1073=)
c.3432C>A (p.Pro1144=)
Xg.53234757G>ACA413140121IQSEC2c.4088C>T (p.Pro1363Leu)
c.1453+1026C>T
c.962+1026C>T
c.316+1565C>T (n.316+1565C>T)
c.514+1565C>T (n.514+1565C>T)
c.*414C>T (n.*414C>T)
c.3929C>T (p.Pro1310Leu)
c.3899C>T (p.Pro1300Leu)
c.4025C>T (p.Pro1342Leu)
c.3314C>T (p.Pro1105Leu)
c.3597+1026C>T (n.3597+1026C>T)
c.3547+1565C>T (n.3547+1565C>T)
c.3251C>T (p.Pro1084Leu)
c.3218C>T (p.Pro1073Leu)
c.3431C>T (p.Pro1144Leu)
 gnomAD v4
Xg.53234757G>CCA413140123IQSEC2c.4088C>G (p.Pro1363Arg)
c.1453+1026C>G
c.962+1026C>G
c.316+1565C>G (n.316+1565C>G)
c.514+1565C>G (n.514+1565C>G)
c.*414C>G (n.*414C>G)
c.3929C>G (p.Pro1310Arg)
c.3899C>G (p.Pro1300Arg)
c.4025C>G (p.Pro1342Arg)
c.3314C>G (p.Pro1105Arg)
c.3597+1026C>G (n.3597+1026C>G)
c.3547+1565C>G (n.3547+1565C>G)
c.3251C>G (p.Pro1084Arg)
c.3218C>G (p.Pro1073Arg)
c.3431C>G (p.Pro1144Arg)
Xg.53234757G>TCA413140124IQSEC2c.4088C>A (p.Pro1363His)
c.1453+1026C>A
c.962+1026C>A
c.316+1565C>A (n.316+1565C>A)
c.514+1565C>A (n.514+1565C>A)
c.*414C>A (n.*414C>A)
c.3929C>A (p.Pro1310His)
c.3899C>A (p.Pro1300His)
c.4025C>A (p.Pro1342His)
c.3314C>A (p.Pro1105His)
c.3597+1026C>A (n.3597+1026C>A)
c.3547+1565C>A (n.3547+1565C>A)
c.3251C>A (p.Pro1084His)
c.3218C>A (p.Pro1073His)
c.3431C>A (p.Pro1144His)
 gnomAD v4
Xg.53234758G>ACA413140126IQSEC2c.4087C>T (p.Pro1363Ser)
c.1453+1025C>T
c.962+1025C>T
c.316+1564C>T (n.316+1564C>T)
c.514+1564C>T (n.514+1564C>T)
c.*413C>T (n.*413C>T)
c.3928C>T (p.Pro1310Ser)
c.3898C>T (p.Pro1300Ser)
c.4024C>T (p.Pro1342Ser)
c.3313C>T (p.Pro1105Ser)
c.3597+1025C>T (n.3597+1025C>T)
c.3547+1564C>T (n.3547+1564C>T)
c.3250C>T (p.Pro1084Ser)
c.3217C>T (p.Pro1073Ser)
c.3430C>T (p.Pro1144Ser)
 gnomAD v4
Xg.53234758G>CCA413140128IQSEC2c.4087C>G (p.Pro1363Ala)
c.1453+1025C>G
c.962+1025C>G
c.316+1564C>G (n.316+1564C>G)
c.514+1564C>G (n.514+1564C>G)
c.*413C>G (n.*413C>G)
c.3928C>G (p.Pro1310Ala)
c.3898C>G (p.Pro1300Ala)
c.4024C>G (p.Pro1342Ala)
c.3313C>G (p.Pro1105Ala)
c.3597+1025C>G (n.3597+1025C>G)
c.3547+1564C>G (n.3547+1564C>G)
c.3250C>G (p.Pro1084Ala)
c.3217C>G (p.Pro1073Ala)
c.3430C>G (p.Pro1144Ala)
Xg.53234758G>TCA413140129IQSEC2c.4087C>A (p.Pro1363Thr)
c.1453+1025C>A
c.962+1025C>A
c.316+1564C>A (n.316+1564C>A)
c.514+1564C>A (n.514+1564C>A)
c.*413C>A (n.*413C>A)
c.3928C>A (p.Pro1310Thr)
c.3898C>A (p.Pro1300Thr)
c.4024C>A (p.Pro1342Thr)
c.3313C>A (p.Pro1105Thr)
c.3597+1025C>A (n.3597+1025C>A)
c.3547+1564C>A (n.3547+1564C>A)
c.3250C>A (p.Pro1084Thr)
c.3217C>A (p.Pro1073Thr)
c.3430C>A (p.Pro1144Thr)
 gnomAD v4
Xg.53234759A>CCA516673578IQSEC2c.4086T>G (p.Pro1362=)
c.1453+1024T>G
c.962+1024T>G
c.316+1563T>G (n.316+1563T>G)
c.514+1563T>G (n.514+1563T>G)
c.*412T>G (n.*412T>G)
c.3927T>G (p.Pro1309=)
c.3897T>G (p.Pro1299=)
c.4023T>G (p.Pro1341=)
c.3312T>G (p.Pro1104=)
c.3597+1024T>G (n.3597+1024T>G)
c.3547+1563T>G (n.3547+1563T>G)
c.3249T>G (p.Pro1083=)
c.3216T>G (p.Pro1072=)
c.3429T>G (p.Pro1143=)
Xg.53234759A>GCA516673579IQSEC2c.4086T>C (p.Pro1362=)
c.1453+1024T>C
c.962+1024T>C
c.316+1563T>C (n.316+1563T>C)
c.514+1563T>C (n.514+1563T>C)
c.*412T>C (n.*412T>C)
c.3927T>C (p.Pro1309=)
c.3897T>C (p.Pro1299=)
c.4023T>C (p.Pro1341=)
c.3312T>C (p.Pro1104=)
c.3597+1024T>C (n.3597+1024T>C)
c.3547+1563T>C (n.3547+1563T>C)
c.3249T>C (p.Pro1083=)
c.3216T>C (p.Pro1072=)
c.3429T>C (p.Pro1143=)
Xg.53234759A>TCA516673580IQSEC2c.4086T>A (p.Pro1362=)
c.1453+1024T>A
c.962+1024T>A
c.316+1563T>A (n.316+1563T>A)
c.514+1563T>A (n.514+1563T>A)
c.*412T>A (n.*412T>A)
c.3927T>A (p.Pro1309=)
c.3897T>A (p.Pro1299=)
c.4023T>A (p.Pro1341=)
c.3312T>A (p.Pro1104=)
c.3597+1024T>A (n.3597+1024T>A)
c.3547+1563T>A (n.3547+1563T>A)
c.3249T>A (p.Pro1083=)
c.3216T>A (p.Pro1072=)
c.3429T>A (p.Pro1143=)
Xg.53234760G>ACA413140134IQSEC2c.4085C>T (p.Pro1362Leu)
c.1453+1023C>T
c.962+1023C>T
c.316+1562C>T (n.316+1562C>T)
c.514+1562C>T (n.514+1562C>T)
c.*411C>T (n.*411C>T)
c.3926C>T (p.Pro1309Leu)
c.3896C>T (p.Pro1299Leu)
c.4022C>T (p.Pro1341Leu)
c.3311C>T (p.Pro1104Leu)
c.3597+1023C>T (n.3597+1023C>T)
c.3547+1562C>T (n.3547+1562C>T)
c.3248C>T (p.Pro1083Leu)
c.3215C>T (p.Pro1072Leu)
c.3428C>T (p.Pro1143Leu)
Xg.53234760G>CCA413140132IQSEC2c.4085C>G (p.Pro1362Arg)
c.1453+1023C>G
c.962+1023C>G
c.316+1562C>G (n.316+1562C>G)
c.514+1562C>G (n.514+1562C>G)
c.*411C>G (n.*411C>G)
c.3926C>G (p.Pro1309Arg)
c.3896C>G (p.Pro1299Arg)
c.4022C>G (p.Pro1341Arg)
c.3311C>G (p.Pro1104Arg)
c.3597+1023C>G (n.3597+1023C>G)
c.3547+1562C>G (n.3547+1562C>G)
c.3248C>G (p.Pro1083Arg)
c.3215C>G (p.Pro1072Arg)
c.3428C>G (p.Pro1143Arg)
Xg.53234760G>TCA413140131IQSEC2c.4085C>A (p.Pro1362His)
c.1453+1023C>A
c.962+1023C>A
c.316+1562C>A (n.316+1562C>A)
c.514+1562C>A (n.514+1562C>A)
c.*411C>A (n.*411C>A)
c.3926C>A (p.Pro1309His)
c.3896C>A (p.Pro1299His)
c.4022C>A (p.Pro1341His)
c.3311C>A (p.Pro1104His)
c.3597+1023C>A (n.3597+1023C>A)
c.3547+1562C>A (n.3547+1562C>A)
c.3248C>A (p.Pro1083His)
c.3215C>A (p.Pro1072His)
c.3428C>A (p.Pro1143His)
Xg.53234761G>ACA413140136IQSEC2c.4084C>T (p.Pro1362Ser)
c.1453+1022C>T
c.962+1022C>T
c.316+1561C>T (n.316+1561C>T)
c.514+1561C>T (n.514+1561C>T)
c.*410C>T (n.*410C>T)
c.3925C>T (p.Pro1309Ser)
c.3895C>T (p.Pro1299Ser)
c.4021C>T (p.Pro1341Ser)
c.3310C>T (p.Pro1104Ser)
c.3597+1022C>T (n.3597+1022C>T)
c.3547+1561C>T (n.3547+1561C>T)
c.3247C>T (p.Pro1083Ser)
c.3214C>T (p.Pro1072Ser)
c.3427C>T (p.Pro1143Ser)
 gnomAD v4
Xg.53234761G>CCA413140139IQSEC2c.4084C>G (p.Pro1362Ala)
c.1453+1022C>G
c.962+1022C>G
c.316+1561C>G (n.316+1561C>G)
c.514+1561C>G (n.514+1561C>G)
c.*410C>G (n.*410C>G)
c.3925C>G (p.Pro1309Ala)
c.3895C>G (p.Pro1299Ala)
c.4021C>G (p.Pro1341Ala)
c.3310C>G (p.Pro1104Ala)
c.3597+1022C>G (n.3597+1022C>G)
c.3547+1561C>G (n.3547+1561C>G)
c.3247C>G (p.Pro1083Ala)
c.3214C>G (p.Pro1072Ala)
c.3427C>G (p.Pro1143Ala)
Xg.53234761G>TCA413140137IQSEC2c.4084C>A (p.Pro1362Thr)
c.1453+1022C>A
c.962+1022C>A
c.316+1561C>A (n.316+1561C>A)
c.514+1561C>A (n.514+1561C>A)
c.*410C>A (n.*410C>A)
c.3925C>A (p.Pro1309Thr)
c.3895C>A (p.Pro1299Thr)
c.4021C>A (p.Pro1341Thr)
c.3310C>A (p.Pro1104Thr)
c.3597+1022C>A (n.3597+1022C>A)
c.3547+1561C>A (n.3547+1561C>A)
c.3247C>A (p.Pro1083Thr)
c.3214C>A (p.Pro1072Thr)
c.3427C>A (p.Pro1143Thr)
Xg.53234762_53234763delCA2579614578IQSEC2c.4083_4084del (p.Pro1362SerfsTer?)
c.1453+1021_1453+1022del
c.962+1021_962+1022del
c.316+1560_316+1561del (n.316+1560_316+1561del)
c.514+1560_514+1561del (n.514+1560_514+1561del)
c.*409_*410del (n.*409_*410del)
c.3924_3925del (p.Pro1309SerfsTer?)
c.3894_3895del (p.Pro1299SerfsTer?)
c.4020_4021del (p.Pro1341SerfsTer?)
c.3309_3310del (p.Pro1104SerfsTer?)
c.3597+1021_3597+1022del (n.3597+1021_3597+1022del)
c.3547+1560_3547+1561del (n.3547+1560_3547+1561del)
c.3246_3247del (p.Pro1083SerfsTer?)
c.3213_3214del (p.Pro1072SerfsTer?)
c.3426_3427del (p.Pro1143SerfsTer?)
Xg.53234762C>ACA516673582IQSEC2c.4083G>T (p.Pro1361=)
c.1453+1021G>T
c.962+1021G>T
c.316+1560G>T (n.316+1560G>T)
c.514+1560G>T (n.514+1560G>T)
c.*409G>T (n.*409G>T)
c.3924G>T (p.Pro1308=)
c.3894G>T (p.Pro1298=)
c.4020G>T (p.Pro1340=)
c.3309G>T (p.Pro1103=)
c.3597+1021G>T (n.3597+1021G>T)
c.3547+1560G>T (n.3547+1560G>T)
c.3246G>T (p.Pro1082=)
c.3213G>T (p.Pro1071=)
c.3426G>T (p.Pro1142=)
 gnomAD v4
Xg.53234762C=CA2429770583IQSEC2c.4083G= (p.Pro1361=)
c.1453+1021G=
c.962+1021G=
c.316+1560G= (n.316+1560G=)
c.514+1560G= (n.514+1560G=)
c.*409G= (n.*409G=)
c.3924G= (p.Pro1308=)
c.3894G= (p.Pro1298=)
c.4020G= (p.Pro1340=)
c.3309G= (p.Pro1103=)
c.3597+1021G= (n.3597+1021G=)
c.3547+1560G= (n.3547+1560G=)
c.3246G= (p.Pro1082=)
c.3213G= (p.Pro1071=)
c.3426G= (p.Pro1142=)
Xg.53234762C>GCA516673581IQSEC2c.4083G>C (p.Pro1361=)
c.1453+1021G>C
c.962+1021G>C
c.316+1560G>C (n.316+1560G>C)
c.514+1560G>C (n.514+1560G>C)
c.*409G>C (n.*409G>C)
c.3924G>C (p.Pro1308=)
c.3894G>C (p.Pro1298=)
c.4020G>C (p.Pro1340=)
c.3309G>C (p.Pro1103=)
c.3597+1021G>C (n.3597+1021G>C)
c.3547+1560G>C (n.3547+1560G>C)
c.3246G>C (p.Pro1082=)
c.3213G>C (p.Pro1071=)
c.3426G>C (p.Pro1142=)
Xg.53234762C>TCA516673583IQSEC2c.4083G>A (p.Pro1361=)
c.1453+1021G>A
c.962+1021G>A
c.316+1560G>A (n.316+1560G>A)
c.514+1560G>A (n.514+1560G>A)
c.*409G>A (n.*409G>A)
c.3924G>A (p.Pro1308=)
c.3894G>A (p.Pro1298=)
c.4020G>A (p.Pro1340=)
c.3309G>A (p.Pro1103=)
c.3597+1021G>A (n.3597+1021G>A)
c.3547+1560G>A (n.3547+1560G>A)
c.3246G>A (p.Pro1082=)
c.3213G>A (p.Pro1071=)
c.3426G>A (p.Pro1142=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234763G>ACA413140141IQSEC2c.4082C>T (p.Pro1361Leu)
c.1453+1020C>T
c.962+1020C>T
c.316+1559C>T (n.316+1559C>T)
c.514+1559C>T (n.514+1559C>T)
c.*408C>T (n.*408C>T)
c.3923C>T (p.Pro1308Leu)
c.3893C>T (p.Pro1298Leu)
c.4019C>T (p.Pro1340Leu)
c.3308C>T (p.Pro1103Leu)
c.3597+1020C>T (n.3597+1020C>T)
c.3547+1559C>T (n.3547+1559C>T)
c.3245C>T (p.Pro1082Leu)
c.3212C>T (p.Pro1071Leu)
c.3425C>T (p.Pro1142Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53234763G>CCA413140144IQSEC2c.4082C>G (p.Pro1361Arg)
c.1453+1020C>G
c.962+1020C>G
c.316+1559C>G (n.316+1559C>G)
c.514+1559C>G (n.514+1559C>G)
c.*408C>G (n.*408C>G)
c.3923C>G (p.Pro1308Arg)
c.3893C>G (p.Pro1298Arg)
c.4019C>G (p.Pro1340Arg)
c.3308C>G (p.Pro1103Arg)
c.3597+1020C>G (n.3597+1020C>G)
c.3547+1559C>G (n.3547+1559C>G)
c.3245C>G (p.Pro1082Arg)
c.3212C>G (p.Pro1071Arg)
c.3425C>G (p.Pro1142Arg)
Xg.53234763G=CA2429770584IQSEC2c.4082C= (p.Pro1361=)
c.1453+1020C=
c.962+1020C=
c.316+1559C= (n.316+1559C=)
c.514+1559C= (n.514+1559C=)
c.*408C= (n.*408C=)
c.3923C= (p.Pro1308=)
c.3893C= (p.Pro1298=)
c.4019C= (p.Pro1340=)
c.3308C= (p.Pro1103=)
c.3597+1020C= (n.3597+1020C=)
c.3547+1559C= (n.3547+1559C=)
c.3245C= (p.Pro1082=)
c.3212C= (p.Pro1071=)
c.3425C= (p.Pro1142=)
Xg.53234763G>TCA413140142IQSEC2c.4082C>A (p.Pro1361Gln)
c.1453+1020C>A
c.962+1020C>A
c.316+1559C>A (n.316+1559C>A)
c.514+1559C>A (n.514+1559C>A)
c.*408C>A (n.*408C>A)
c.3923C>A (p.Pro1308Gln)
c.3893C>A (p.Pro1298Gln)
c.4019C>A (p.Pro1340Gln)
c.3308C>A (p.Pro1103Gln)
c.3597+1020C>A (n.3597+1020C>A)
c.3547+1559C>A (n.3547+1559C>A)
c.3245C>A (p.Pro1082Gln)
c.3212C>A (p.Pro1071Gln)
c.3425C>A (p.Pro1142Gln)
Xg.53234764G>ACA413140146IQSEC2c.4081C>T (p.Pro1361Ser)
c.1453+1019C>T
c.962+1019C>T
c.316+1558C>T (n.316+1558C>T)
c.514+1558C>T (n.514+1558C>T)
c.*407C>T (n.*407C>T)
c.3922C>T (p.Pro1308Ser)
c.3892C>T (p.Pro1298Ser)
c.4018C>T (p.Pro1340Ser)
c.3307C>T (p.Pro1103Ser)
c.3597+1019C>T (n.3597+1019C>T)
c.3547+1558C>T (n.3547+1558C>T)
c.3244C>T (p.Pro1082Ser)
c.3211C>T (p.Pro1071Ser)
c.3424C>T (p.Pro1142Ser)
 gnomAD v4
Xg.53234764G>CCA413140149IQSEC2c.4081C>G (p.Pro1361Ala)
c.1453+1019C>G
c.962+1019C>G
c.316+1558C>G (n.316+1558C>G)
c.514+1558C>G (n.514+1558C>G)
c.*407C>G (n.*407C>G)
c.3922C>G (p.Pro1308Ala)
c.3892C>G (p.Pro1298Ala)
c.4018C>G (p.Pro1340Ala)
c.3307C>G (p.Pro1103Ala)
c.3597+1019C>G (n.3597+1019C>G)
c.3547+1558C>G (n.3547+1558C>G)
c.3244C>G (p.Pro1082Ala)
c.3211C>G (p.Pro1071Ala)
c.3424C>G (p.Pro1142Ala)
Xg.53234764G>TCA413140147IQSEC2c.4081C>A (p.Pro1361Thr)
c.1453+1019C>A
c.962+1019C>A
c.316+1558C>A (n.316+1558C>A)
c.514+1558C>A (n.514+1558C>A)
c.*407C>A (n.*407C>A)
c.3922C>A (p.Pro1308Thr)
c.3892C>A (p.Pro1298Thr)
c.4018C>A (p.Pro1340Thr)
c.3307C>A (p.Pro1103Thr)
c.3597+1019C>A (n.3597+1019C>A)
c.3547+1558C>A (n.3547+1558C>A)
c.3244C>A (p.Pro1082Thr)
c.3211C>A (p.Pro1071Thr)
c.3424C>A (p.Pro1142Thr)
Xg.53234765T>ACA516673587IQSEC2c.4080A>T (p.Pro1360=)
c.1453+1018A>T
c.962+1018A>T
c.316+1557A>T (n.316+1557A>T)
c.514+1557A>T (n.514+1557A>T)
c.*406A>T (n.*406A>T)
c.3921A>T (p.Pro1307=)
c.3891A>T (p.Pro1297=)
c.4017A>T (p.Pro1339=)
c.3306A>T (p.Pro1102=)
c.3597+1018A>T (n.3597+1018A>T)
c.3547+1557A>T (n.3547+1557A>T)
c.3243A>T (p.Pro1081=)
c.3210A>T (p.Pro1070=)
c.3423A>T (p.Pro1141=)
Xg.53234765T>CCA516673588IQSEC2c.4080A>G (p.Pro1360=)
c.1453+1018A>G
c.962+1018A>G
c.316+1557A>G (n.316+1557A>G)
c.514+1557A>G (n.514+1557A>G)
c.*406A>G (n.*406A>G)
c.3921A>G (p.Pro1307=)
c.3891A>G (p.Pro1297=)
c.4017A>G (p.Pro1339=)
c.3306A>G (p.Pro1102=)
c.3597+1018A>G (n.3597+1018A>G)
c.3547+1557A>G (n.3547+1557A>G)
c.3243A>G (p.Pro1081=)
c.3210A>G (p.Pro1070=)
c.3423A>G (p.Pro1141=)
 gnomAD v4
Xg.53234765T>GCA516673589IQSEC2c.4080A>C (p.Pro1360=)
c.1453+1018A>C
c.962+1018A>C
c.316+1557A>C (n.316+1557A>C)
c.514+1557A>C (n.514+1557A>C)
c.*406A>C (n.*406A>C)
c.3921A>C (p.Pro1307=)
c.3891A>C (p.Pro1297=)
c.4017A>C (p.Pro1339=)
c.3306A>C (p.Pro1102=)
c.3597+1018A>C (n.3597+1018A>C)
c.3547+1557A>C (n.3547+1557A>C)
c.3243A>C (p.Pro1081=)
c.3210A>C (p.Pro1070=)
c.3423A>C (p.Pro1141=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53234765T=CA2429770585IQSEC2c.4080A= (p.Pro1360=)
c.1453+1018A=
c.962+1018A=
c.316+1557A= (n.316+1557A=)
c.514+1557A= (n.514+1557A=)
c.*406A= (n.*406A=)
c.3921A= (p.Pro1307=)
c.3891A= (p.Pro1297=)
c.4017A= (p.Pro1339=)
c.3306A= (p.Pro1102=)
c.3597+1018A= (n.3597+1018A=)
c.3547+1557A= (n.3547+1557A=)
c.3243A= (p.Pro1081=)
c.3210A= (p.Pro1070=)
c.3423A= (p.Pro1141=)
Xg.53234766G>ACA413140151IQSEC2c.4079C>T (p.Pro1360Leu)
c.1453+1017C>T
c.962+1017C>T
c.316+1556C>T (n.316+1556C>T)
c.514+1556C>T (n.514+1556C>T)
c.*405C>T (n.*405C>T)
c.3920C>T (p.Pro1307Leu)
c.3890C>T (p.Pro1297Leu)
c.4016C>T (p.Pro1339Leu)
c.3305C>T (p.Pro1102Leu)
c.3597+1017C>T (n.3597+1017C>T)
c.3547+1556C>T (n.3547+1556C>T)
c.3242C>T (p.Pro1081Leu)
c.3209C>T (p.Pro1070Leu)
c.3422C>T (p.Pro1141Leu)
Xg.53234766G>CCA413140154IQSEC2c.4079C>G (p.Pro1360Arg)
c.1453+1017C>G
c.962+1017C>G
c.316+1556C>G (n.316+1556C>G)
c.514+1556C>G (n.514+1556C>G)
c.*405C>G (n.*405C>G)
c.3920C>G (p.Pro1307Arg)
c.3890C>G (p.Pro1297Arg)
c.4016C>G (p.Pro1339Arg)
c.3305C>G (p.Pro1102Arg)
c.3597+1017C>G (n.3597+1017C>G)
c.3547+1556C>G (n.3547+1556C>G)
c.3242C>G (p.Pro1081Arg)
c.3209C>G (p.Pro1070Arg)
c.3422C>G (p.Pro1141Arg)
Xg.53234766G=CA2429770586IQSEC2c.4079C= (p.Pro1360=)
c.1453+1017C=
c.962+1017C=
c.316+1556C= (n.316+1556C=)
c.514+1556C= (n.514+1556C=)
c.*405C= (n.*405C=)
c.3920C= (p.Pro1307=)
c.3890C= (p.Pro1297=)
c.4016C= (p.Pro1339=)
c.3305C= (p.Pro1102=)
c.3597+1017C= (n.3597+1017C=)
c.3547+1556C= (n.3547+1556C=)
c.3242C= (p.Pro1081=)
c.3209C= (p.Pro1070=)
c.3422C= (p.Pro1141=)
Xg.53234766G>TCA413140152IQSEC2c.4079C>A (p.Pro1360Gln)
c.1453+1017C>A
c.962+1017C>A
c.316+1556C>A (n.316+1556C>A)
c.514+1556C>A (n.514+1556C>A)
c.*405C>A (n.*405C>A)
c.3920C>A (p.Pro1307Gln)
c.3890C>A (p.Pro1297Gln)
c.4016C>A (p.Pro1339Gln)
c.3305C>A (p.Pro1102Gln)
c.3597+1017C>A (n.3597+1017C>A)
c.3547+1556C>A (n.3547+1556C>A)
c.3242C>A (p.Pro1081Gln)
c.3209C>A (p.Pro1070Gln)
c.3422C>A (p.Pro1141Gln)
 dbSNP gnomAD v4
Xg.53234767G>ACA413140156IQSEC2c.4078C>T (p.Pro1360Ser)
c.1453+1016C>T
c.962+1016C>T
c.316+1555C>T (n.316+1555C>T)
c.514+1555C>T (n.514+1555C>T)
c.*404C>T (n.*404C>T)
c.3919C>T (p.Pro1307Ser)
c.3889C>T (p.Pro1297Ser)
c.4015C>T (p.Pro1339Ser)
c.3304C>T (p.Pro1102Ser)
c.3597+1016C>T (n.3597+1016C>T)
c.3547+1555C>T (n.3547+1555C>T)
c.3241C>T (p.Pro1081Ser)
c.3208C>T (p.Pro1070Ser)
c.3421C>T (p.Pro1141Ser)
 gnomAD v4
Xg.53234767G>CCA413140158IQSEC2c.4078C>G (p.Pro1360Ala)
c.1453+1016C>G
c.962+1016C>G
c.316+1555C>G (n.316+1555C>G)
c.514+1555C>G (n.514+1555C>G)
c.*404C>G (n.*404C>G)
c.3919C>G (p.Pro1307Ala)
c.3889C>G (p.Pro1297Ala)
c.4015C>G (p.Pro1339Ala)
c.3304C>G (p.Pro1102Ala)
c.3597+1016C>G (n.3597+1016C>G)
c.3547+1555C>G (n.3547+1555C>G)
c.3241C>G (p.Pro1081Ala)
c.3208C>G (p.Pro1070Ala)
c.3421C>G (p.Pro1141Ala)
Xg.53234767G>TCA413140159IQSEC2c.4078C>A (p.Pro1360Thr)
c.1453+1016C>A
c.962+1016C>A
c.316+1555C>A (n.316+1555C>A)
c.514+1555C>A (n.514+1555C>A)
c.*404C>A (n.*404C>A)
c.3919C>A (p.Pro1307Thr)
c.3889C>A (p.Pro1297Thr)
c.4015C>A (p.Pro1339Thr)
c.3304C>A (p.Pro1102Thr)
c.3597+1016C>A (n.3597+1016C>A)
c.3547+1555C>A (n.3547+1555C>A)
c.3241C>A (p.Pro1081Thr)
c.3208C>A (p.Pro1070Thr)
c.3421C>A (p.Pro1141Thr)
 gnomAD v4
Xg.53234768A>CCA413140161IQSEC2c.4077T>G (p.Ile1359Met)
c.1453+1015T>G
c.962+1015T>G
c.316+1554T>G (n.316+1554T>G)
c.514+1554T>G (n.514+1554T>G)
c.*403T>G (n.*403T>G)
c.3918T>G (p.Ile1306Met)
c.3888T>G (p.Ile1296Met)
c.4014T>G (p.Ile1338Met)
c.3303T>G (p.Ile1101Met)
c.3597+1015T>G (n.3597+1015T>G)
c.3547+1554T>G (n.3547+1554T>G)
c.3240T>G (p.Ile1080Met)
c.3207T>G (p.Ile1069Met)
c.3420T>G (p.Ile1140Met)
Xg.53234768A>GCA516673592IQSEC2c.4077T>C (p.Ile1359=)
c.1453+1015T>C
c.962+1015T>C
c.316+1554T>C (n.316+1554T>C)
c.514+1554T>C (n.514+1554T>C)
c.*403T>C (n.*403T>C)
c.3918T>C (p.Ile1306=)
c.3888T>C (p.Ile1296=)
c.4014T>C (p.Ile1338=)
c.3303T>C (p.Ile1101=)
c.3597+1015T>C (n.3597+1015T>C)
c.3547+1554T>C (n.3547+1554T>C)
c.3240T>C (p.Ile1080=)
c.3207T>C (p.Ile1069=)
c.3420T>C (p.Ile1140=)
 dbSNP
Xg.53234768A>TCA516673594IQSEC2c.4077T>A (p.Ile1359=)
c.1453+1015T>A
c.962+1015T>A
c.316+1554T>A (n.316+1554T>A)
c.514+1554T>A (n.514+1554T>A)
c.*403T>A (n.*403T>A)
c.3918T>A (p.Ile1306=)
c.3888T>A (p.Ile1296=)
c.4014T>A (p.Ile1338=)
c.3303T>A (p.Ile1101=)
c.3597+1015T>A (n.3597+1015T>A)
c.3547+1554T>A (n.3547+1554T>A)
c.3240T>A (p.Ile1080=)
c.3207T>A (p.Ile1069=)
c.3420T>A (p.Ile1140=)
Xg.53234769A=CA2429770587IQSEC2c.4076T= (p.Ile1359=)
c.1453+1014T=
c.962+1014T=
c.316+1553T= (n.316+1553T=)
c.514+1553T= (n.514+1553T=)
c.*402T= (n.*402T=)
c.3917T= (p.Ile1306=)
c.3887T= (p.Ile1296=)
c.4013T= (p.Ile1338=)
c.3302T= (p.Ile1101=)
c.3597+1014T= (n.3597+1014T=)
c.3547+1553T= (n.3547+1553T=)
c.3239T= (p.Ile1080=)
c.3206T= (p.Ile1069=)
c.3419T= (p.Ile1140=)
Xg.53234769A>CCA413140163IQSEC2c.4076T>G (p.Ile1359Ser)
c.1453+1014T>G
c.962+1014T>G
c.316+1553T>G (n.316+1553T>G)
c.514+1553T>G (n.514+1553T>G)
c.*402T>G (n.*402T>G)
c.3917T>G (p.Ile1306Ser)
c.3887T>G (p.Ile1296Ser)
c.4013T>G (p.Ile1338Ser)
c.3302T>G (p.Ile1101Ser)
c.3597+1014T>G (n.3597+1014T>G)
c.3547+1553T>G (n.3547+1553T>G)
c.3239T>G (p.Ile1080Ser)
c.3206T>G (p.Ile1069Ser)
c.3419T>G (p.Ile1140Ser)
 dbSNP
Xg.53234769A>GCA413140165IQSEC2c.4076T>C (p.Ile1359Thr)
c.1453+1014T>C
c.962+1014T>C
c.316+1553T>C (n.316+1553T>C)
c.514+1553T>C (n.514+1553T>C)
c.*402T>C (n.*402T>C)
c.3917T>C (p.Ile1306Thr)
c.3887T>C (p.Ile1296Thr)
c.4013T>C (p.Ile1338Thr)
c.3302T>C (p.Ile1101Thr)
c.3597+1014T>C (n.3597+1014T>C)
c.3547+1553T>C (n.3547+1553T>C)
c.3239T>C (p.Ile1080Thr)
c.3206T>C (p.Ile1069Thr)
c.3419T>C (p.Ile1140Thr)
Xg.53234769A>TCA413140166IQSEC2c.4076T>A (p.Ile1359Asn)
c.1453+1014T>A
c.962+1014T>A
c.316+1553T>A (n.316+1553T>A)
c.514+1553T>A (n.514+1553T>A)
c.*402T>A (n.*402T>A)
c.3917T>A (p.Ile1306Asn)
c.3887T>A (p.Ile1296Asn)
c.4013T>A (p.Ile1338Asn)
c.3302T>A (p.Ile1101Asn)
c.3597+1014T>A (n.3597+1014T>A)
c.3547+1553T>A (n.3547+1553T>A)
c.3239T>A (p.Ile1080Asn)
c.3206T>A (p.Ile1069Asn)
c.3419T>A (p.Ile1140Asn)
Xg.53234770T>ACA413140168IQSEC2c.4075A>T (p.Ile1359Phe)
c.1453+1013A>T
c.962+1013A>T
c.316+1552A>T (n.316+1552A>T)
c.514+1552A>T (n.514+1552A>T)
c.*401A>T (n.*401A>T)
c.3916A>T (p.Ile1306Phe)
c.3886A>T (p.Ile1296Phe)
c.4012A>T (p.Ile1338Phe)
c.3301A>T (p.Ile1101Phe)
c.3597+1013A>T (n.3597+1013A>T)
c.3547+1552A>T (n.3547+1552A>T)
c.3238A>T (p.Ile1080Phe)
c.3205A>T (p.Ile1069Phe)
c.3418A>T (p.Ile1140Phe)
Xg.53234770T>CCA413140170IQSEC2c.4075A>G (p.Ile1359Val)
c.1453+1013A>G
c.962+1013A>G
c.316+1552A>G (n.316+1552A>G)
c.514+1552A>G (n.514+1552A>G)
c.*401A>G (n.*401A>G)
c.3916A>G (p.Ile1306Val)
c.3886A>G (p.Ile1296Val)
c.4012A>G (p.Ile1338Val)
c.3301A>G (p.Ile1101Val)
c.3597+1013A>G (n.3597+1013A>G)
c.3547+1552A>G (n.3547+1552A>G)
c.3238A>G (p.Ile1080Val)
c.3205A>G (p.Ile1069Val)
c.3418A>G (p.Ile1140Val)
Xg.53234770T>GCA413140171IQSEC2c.4075A>C (p.Ile1359Leu)
c.1453+1013A>C
c.962+1013A>C
c.316+1552A>C (n.316+1552A>C)
c.514+1552A>C (n.514+1552A>C)
c.*401A>C (n.*401A>C)
c.3916A>C (p.Ile1306Leu)
c.3886A>C (p.Ile1296Leu)
c.4012A>C (p.Ile1338Leu)
c.3301A>C (p.Ile1101Leu)
c.3597+1013A>C (n.3597+1013A>C)
c.3547+1552A>C (n.3547+1552A>C)
c.3238A>C (p.Ile1080Leu)
c.3205A>C (p.Ile1069Leu)
c.3418A>C (p.Ile1140Leu)
 gnomAD v4
Xg.53234771G>ACA516673596IQSEC2c.4074C>T (p.Ser1358=)
c.1453+1012C>T
c.962+1012C>T
c.316+1551C>T (n.316+1551C>T)
c.514+1551C>T (n.514+1551C>T)
c.*400C>T (n.*400C>T)
c.3915C>T (p.Ser1305=)
c.3885C>T (p.Ser1295=)
c.4011C>T (p.Ser1337=)
c.3300C>T (p.Ser1100=)
c.3597+1012C>T (n.3597+1012C>T)
c.3547+1551C>T (n.3547+1551C>T)
c.3237C>T (p.Ser1079=)
c.3204C>T (p.Ser1068=)
c.3417C>T (p.Ser1139=)
Xg.53234771G>CCA516673597IQSEC2c.4074C>G (p.Ser1358=)
c.1453+1012C>G
c.962+1012C>G
c.316+1551C>G (n.316+1551C>G)
c.514+1551C>G (n.514+1551C>G)
c.*400C>G (n.*400C>G)
c.3915C>G (p.Ser1305=)
c.3885C>G (p.Ser1295=)
c.4011C>G (p.Ser1337=)
c.3300C>G (p.Ser1100=)
c.3597+1012C>G (n.3597+1012C>G)
c.3547+1551C>G (n.3547+1551C>G)
c.3237C>G (p.Ser1079=)
c.3204C>G (p.Ser1068=)
c.3417C>G (p.Ser1139=)
Xg.53234771G>TCA516673598IQSEC2c.4074C>A (p.Ser1358=)
c.1453+1012C>A
c.962+1012C>A
c.316+1551C>A (n.316+1551C>A)
c.514+1551C>A (n.514+1551C>A)
c.*400C>A (n.*400C>A)
c.3915C>A (p.Ser1305=)
c.3885C>A (p.Ser1295=)
c.4011C>A (p.Ser1337=)
c.3300C>A (p.Ser1100=)
c.3597+1012C>A (n.3597+1012C>A)
c.3547+1551C>A (n.3547+1551C>A)
c.3237C>A (p.Ser1079=)
c.3204C>A (p.Ser1068=)
c.3417C>A (p.Ser1139=)
Xg.53234772G>ACA413140176IQSEC2c.4073C>T (p.Ser1358Phe)
c.1453+1011C>T
c.962+1011C>T
c.316+1550C>T (n.316+1550C>T)
c.514+1550C>T (n.514+1550C>T)
c.*399C>T (n.*399C>T)
c.3914C>T (p.Ser1305Phe)
c.3884C>T (p.Ser1295Phe)
c.4010C>T (p.Ser1337Phe)
c.3299C>T (p.Ser1100Phe)
c.3597+1011C>T (n.3597+1011C>T)
c.3547+1550C>T (n.3547+1550C>T)
c.3236C>T (p.Ser1079Phe)
c.3203C>T (p.Ser1068Phe)
c.3416C>T (p.Ser1139Phe)
 dbSNP gnomAD v2
Xg.53234772G>CCA413140173IQSEC2c.4073C>G (p.Ser1358Cys)
c.1453+1011C>G
c.962+1011C>G
c.316+1550C>G (n.316+1550C>G)
c.514+1550C>G (n.514+1550C>G)
c.*399C>G (n.*399C>G)
c.3914C>G (p.Ser1305Cys)
c.3884C>G (p.Ser1295Cys)
c.4010C>G (p.Ser1337Cys)
c.3299C>G (p.Ser1100Cys)
c.3597+1011C>G (n.3597+1011C>G)
c.3547+1550C>G (n.3547+1550C>G)
c.3236C>G (p.Ser1079Cys)
c.3203C>G (p.Ser1068Cys)
c.3416C>G (p.Ser1139Cys)
Xg.53234772G=CA2429770588IQSEC2c.4073C= (p.Ser1358=)
c.1453+1011C=
c.962+1011C=
c.316+1550C= (n.316+1550C=)
c.514+1550C= (n.514+1550C=)
c.*399C= (n.*399C=)
c.3914C= (p.Ser1305=)
c.3884C= (p.Ser1295=)
c.4010C= (p.Ser1337=)
c.3299C= (p.Ser1100=)
c.3597+1011C= (n.3597+1011C=)
c.3547+1550C= (n.3547+1550C=)
c.3236C= (p.Ser1079=)
c.3203C= (p.Ser1068=)
c.3416C= (p.Ser1139=)
Xg.53234772G>TCA413140175IQSEC2c.4073C>A (p.Ser1358Tyr)
c.1453+1011C>A
c.962+1011C>A
c.316+1550C>A (n.316+1550C>A)
c.514+1550C>A (n.514+1550C>A)
c.*399C>A (n.*399C>A)
c.3914C>A (p.Ser1305Tyr)
c.3884C>A (p.Ser1295Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3299C>A (p.Ser1100Tyr)
c.3597+1011C>A (n.3597+1011C>A)
c.3547+1550C>A (n.3547+1550C>A)
c.3236C>A (p.Ser1079Tyr)
c.3203C>A (p.Ser1068Tyr)
c.3416C>A (p.Ser1139Tyr)
 gnomAD v4
Xg.53234773A>CCA413140178IQSEC2c.4072T>G (p.Ser1358Ala)
c.1453+1010T>G
c.962+1010T>G
c.316+1549T>G (n.316+1549T>G)
c.514+1549T>G (n.514+1549T>G)
c.*398T>G (n.*398T>G)
c.3913T>G (p.Ser1305Ala)
c.3883T>G (p.Ser1295Ala)
c.4009T>G (p.Ser1337Ala)
c.3298T>G (p.Ser1100Ala)
c.3597+1010T>G (n.3597+1010T>G)
c.3547+1549T>G (n.3547+1549T>G)
c.3235T>G (p.Ser1079Ala)
c.3202T>G (p.Ser1068Ala)
c.3415T>G (p.Ser1139Ala)
 ClinVar gnomAD v4
Xg.53234773A>GCA413140179IQSEC2c.4072T>C (p.Ser1358Pro)
c.1453+1010T>C
c.962+1010T>C
c.316+1549T>C (n.316+1549T>C)
c.514+1549T>C (n.514+1549T>C)
c.*398T>C (n.*398T>C)
c.3913T>C (p.Ser1305Pro)
c.3883T>C (p.Ser1295Pro)
c.4009T>C (p.Ser1337Pro)
c.3298T>C (p.Ser1100Pro)
c.3597+1010T>C (n.3597+1010T>C)
c.3547+1549T>C (n.3547+1549T>C)
c.3235T>C (p.Ser1079Pro)
c.3202T>C (p.Ser1068Pro)
c.3415T>C (p.Ser1139Pro)
Xg.53234773A>TCA413140181IQSEC2c.4072T>A (p.Ser1358Thr)
c.1453+1010T>A
c.962+1010T>A
c.316+1549T>A (n.316+1549T>A)
c.514+1549T>A (n.514+1549T>A)
c.*398T>A (n.*398T>A)
c.3913T>A (p.Ser1305Thr)
c.3883T>A (p.Ser1295Thr)
c.4009T>A (p.Ser1337Thr)
c.3298T>A (p.Ser1100Thr)
c.3597+1010T>A (n.3597+1010T>A)
c.3547+1549T>A (n.3547+1549T>A)
c.3235T>A (p.Ser1079Thr)
c.3202T>A (p.Ser1068Thr)
c.3415T>A (p.Ser1139Thr)
Xg.53234774G>ACA516673602IQSEC2c.4071C>T (p.Gly1357=)
c.1453+1009C>T
c.962+1009C>T
c.316+1548C>T (n.316+1548C>T)
c.514+1548C>T (n.514+1548C>T)
c.*397C>T (n.*397C>T)
c.3912C>T (p.Gly1304=)
c.3882C>T (p.Gly1294=)
c.4008C>T (p.Gly1336=)
c.3297C>T (p.Gly1099=)
c.3597+1009C>T (n.3597+1009C>T)
c.3547+1548C>T (n.3547+1548C>T)
c.3234C>T (p.Gly1078=)
c.3201C>T (p.Gly1067=)
c.3414C>T (p.Gly1138=)
Xg.53234774G>CCA516673603IQSEC2c.4071C>G (p.Gly1357=)
c.1453+1009C>G
c.962+1009C>G
c.316+1548C>G (n.316+1548C>G)
c.514+1548C>G (n.514+1548C>G)
c.*397C>G (n.*397C>G)
c.3912C>G (p.Gly1304=)
c.3882C>G (p.Gly1294=)
c.4008C>G (p.Gly1336=)
c.3297C>G (p.Gly1099=)
c.3597+1009C>G (n.3597+1009C>G)
c.3547+1548C>G (n.3547+1548C>G)
c.3234C>G (p.Gly1078=)
c.3201C>G (p.Gly1067=)
c.3414C>G (p.Gly1138=)
 gnomAD v4
Xg.53234774G>TCA516673604IQSEC2c.4071C>A (p.Gly1357=)
c.1453+1009C>A
c.962+1009C>A
c.316+1548C>A (n.316+1548C>A)
c.514+1548C>A (n.514+1548C>A)
c.*397C>A (n.*397C>A)
c.3912C>A (p.Gly1304=)
c.3882C>A (p.Gly1294=)
c.4008C>A (p.Gly1336=)
c.3297C>A (p.Gly1099=)
c.3597+1009C>A (n.3597+1009C>A)
c.3547+1548C>A (n.3547+1548C>A)
c.3234C>A (p.Gly1078=)
c.3201C>A (p.Gly1067=)
c.3414C>A (p.Gly1138=)
Xg.53234775C>ACA413140183IQSEC2c.4070G>T (p.Gly1357Val)
c.1453+1008G>T
c.962+1008G>T
c.316+1547G>T (n.316+1547G>T)
c.514+1547G>T (n.514+1547G>T)
c.*396G>T (n.*396G>T)
c.3911G>T (p.Gly1304Val)
c.3881G>T (p.Gly1294Val)
c.4007G>T (p.Gly1336Val)
c.3296G>T (p.Gly1099Val)
c.3597+1008G>T (n.3597+1008G>T)
c.3547+1547G>T (n.3547+1547G>T)
c.3233G>T (p.Gly1078Val)
c.3200G>T (p.Gly1067Val)
c.3413G>T (p.Gly1138Val)
 gnomAD v4
Xg.53234775C>GCA413140185IQSEC2c.4070G>C (p.Gly1357Ala)
c.1453+1008G>C
c.962+1008G>C
c.316+1547G>C (n.316+1547G>C)
c.514+1547G>C (n.514+1547G>C)
c.*396G>C (n.*396G>C)
c.3911G>C (p.Gly1304Ala)
c.3881G>C (p.Gly1294Ala)
c.4007G>C (p.Gly1336Ala)
c.3296G>C (p.Gly1099Ala)
c.3597+1008G>C (n.3597+1008G>C)
c.3547+1547G>C (n.3547+1547G>C)
c.3233G>C (p.Gly1078Ala)
c.3200G>C (p.Gly1067Ala)
c.3413G>C (p.Gly1138Ala)
Xg.53234775C>TCA413140186IQSEC2c.4070G>A (p.Gly1357Asp)
c.1453+1008G>A
c.962+1008G>A
c.316+1547G>A (n.316+1547G>A)
c.514+1547G>A (n.514+1547G>A)
c.*396G>A (n.*396G>A)
c.3911G>A (p.Gly1304Asp)
c.3881G>A (p.Gly1294Asp)
c.4007G>A (p.Gly1336Asp)
c.3296G>A (p.Gly1099Asp)
c.3597+1008G>A (n.3597+1008G>A)
c.3547+1547G>A (n.3547+1547G>A)
c.3233G>A (p.Gly1078Asp)
c.3200G>A (p.Gly1067Asp)
c.3413G>A (p.Gly1138Asp)
 gnomAD v4
Xg.53234777delCA2579614582IQSEC2c.4070del (p.Gly1357AlafsTer?)
c.1453+1008del
c.962+1008del
c.316+1547del (n.316+1547del)
c.514+1547del (n.514+1547del)
c.*396del (n.*396del)
c.3911del (p.Gly1304AlafsTer?)
c.3881del (p.Gly1294AlafsTer?)
c.4007del (p.Gly1336AlafsTer?)
c.3296del (p.Gly1099AlafsTer?)
c.3597+1008del (n.3597+1008del)
c.3547+1547del (n.3547+1547del)
c.3233del (p.Gly1078AlafsTer?)
c.3200del (p.Gly1067AlafsTer?)
c.3413del (p.Gly1138AlafsTer?)
Xg.53234776C>ACA413140189IQSEC2c.4069G>T (p.Gly1357Cys)
c.1453+1007G>T
c.962+1007G>T
c.316+1546G>T (n.316+1546G>T)
c.514+1546G>T (n.514+1546G>T)
c.*395G>T (n.*395G>T)
c.3910G>T (p.Gly1304Cys)
c.3880G>T (p.Gly1294Cys)
c.4006G>T (p.Gly1336Cys)
c.3295G>T (p.Gly1099Cys)
c.3597+1007G>T (n.3597+1007G>T)
c.3547+1546G>T (n.3547+1546G>T)
c.3232G>T (p.Gly1078Cys)
c.3199G>T (p.Gly1067Cys)
c.3412G>T (p.Gly1138Cys)
Xg.53234776C>GCA413140190IQSEC2c.4069G>C (p.Gly1357Arg)
c.1453+1007G>C
c.962+1007G>C
c.316+1546G>C (n.316+1546G>C)
c.514+1546G>C (n.514+1546G>C)
c.*395G>C (n.*395G>C)
c.3910G>C (p.Gly1304Arg)
c.3880G>C (p.Gly1294Arg)
c.4006G>C (p.Gly1336Arg)
c.3295G>C (p.Gly1099Arg)
c.3597+1007G>C (n.3597+1007G>C)
c.3547+1546G>C (n.3547+1546G>C)
c.3232G>C (p.Gly1078Arg)
c.3199G>C (p.Gly1067Arg)
c.3412G>C (p.Gly1138Arg)
Xg.53234776C>TCA413140191IQSEC2c.4069G>A (p.Gly1357Ser)
c.1453+1007G>A
c.962+1007G>A
c.316+1546G>A (n.316+1546G>A)
c.514+1546G>A (n.514+1546G>A)
c.*395G>A (n.*395G>A)
c.3910G>A (p.Gly1304Ser)
c.3880G>A (p.Gly1294Ser)
c.4006G>A (p.Gly1336Ser)
c.3295G>A (p.Gly1099Ser)
c.3597+1007G>A (n.3597+1007G>A)
c.3547+1546G>A (n.3547+1546G>A)
c.3232G>A (p.Gly1078Ser)
c.3199G>A (p.Gly1067Ser)
c.3412G>A (p.Gly1138Ser)
Xg.53234777C>ACA516673606IQSEC2c.4068G>T (p.Leu1356=)
c.1453+1006G>T
c.962+1006G>T
c.316+1545G>T (n.316+1545G>T)
c.514+1545G>T (n.514+1545G>T)
c.*394G>T (n.*394G>T)
c.3909G>T (p.Leu1303=)
c.3879G>T (p.Leu1293=)
c.4005G>T (p.Leu1335=)
c.3294G>T (p.Leu1098=)
c.3597+1006G>T (n.3597+1006G>T)
c.3547+1545G>T (n.3547+1545G>T)
c.3231G>T (p.Leu1077=)
c.3198G>T (p.Leu1066=)
c.3411G>T (p.Leu1137=)
Xg.53234777C>GCA516673608IQSEC2c.4068G>C (p.Leu1356=)
c.1453+1006G>C
c.962+1006G>C
c.316+1545G>C (n.316+1545G>C)
c.514+1545G>C (n.514+1545G>C)
c.*394G>C (n.*394G>C)
c.3909G>C (p.Leu1303=)
c.3879G>C (p.Leu1293=)
c.4005G>C (p.Leu1335=)
c.3294G>C (p.Leu1098=)
c.3597+1006G>C (n.3597+1006G>C)
c.3547+1545G>C (n.3547+1545G>C)
c.3231G>C (p.Leu1077=)
c.3198G>C (p.Leu1066=)
c.3411G>C (p.Leu1137=)
Xg.53234777C>TCA516673609IQSEC2c.4068G>A (p.Leu1356=)
c.1453+1006G>A
c.962+1006G>A
c.316+1545G>A (n.316+1545G>A)
c.514+1545G>A (n.514+1545G>A)
c.*394G>A (n.*394G>A)
c.3909G>A (p.Leu1303=)
c.3879G>A (p.Leu1293=)
c.4005G>A (p.Leu1335=)
c.3294G>A (p.Leu1098=)
c.3597+1006G>A (n.3597+1006G>A)
c.3547+1545G>A (n.3547+1545G>A)
c.3231G>A (p.Leu1077=)
c.3198G>A (p.Leu1066=)
c.3411G>A (p.Leu1137=)
 gnomAD v4
Xg.53234778A>CCA413140193IQSEC2c.4067T>G (p.Leu1356Arg)
c.1453+1005T>G
c.962+1005T>G
c.316+1544T>G (n.316+1544T>G)
c.514+1544T>G (n.514+1544T>G)
c.*393T>G (n.*393T>G)
c.3908T>G (p.Leu1303Arg)
c.3878T>G (p.Leu1293Arg)
c.4004T>G (p.Leu1335Arg)
c.3293T>G (p.Leu1098Arg)
c.3597+1005T>G (n.3597+1005T>G)
c.3547+1544T>G (n.3547+1544T>G)
c.3230T>G (p.Leu1077Arg)
c.3197T>G (p.Leu1066Arg)
c.3410T>G (p.Leu1137Arg)
Xg.53234778A>GCA413140195IQSEC2c.4067T>C (p.Leu1356Pro)
c.1453+1005T>C
c.962+1005T>C
c.316+1544T>C (n.316+1544T>C)
c.514+1544T>C (n.514+1544T>C)
c.*393T>C (n.*393T>C)
c.3908T>C (p.Leu1303Pro)
c.3878T>C (p.Leu1293Pro)
c.4004T>C (p.Leu1335Pro)
c.3293T>C (p.Leu1098Pro)
c.3597+1005T>C (n.3597+1005T>C)
c.3547+1544T>C (n.3547+1544T>C)
c.3230T>C (p.Leu1077Pro)
c.3197T>C (p.Leu1066Pro)
c.3410T>C (p.Leu1137Pro)
Xg.53234778A>TCA413140192IQSEC2c.4067T>A (p.Leu1356Gln)
c.1453+1005T>A
c.962+1005T>A
c.316+1544T>A (n.316+1544T>A)
c.514+1544T>A (n.514+1544T>A)
c.*393T>A (n.*393T>A)
c.3908T>A (p.Leu1303Gln)
c.3878T>A (p.Leu1293Gln)
c.4004T>A (p.Leu1335Gln)
c.3293T>A (p.Leu1098Gln)
c.3597+1005T>A (n.3597+1005T>A)
c.3547+1544T>A (n.3547+1544T>A)
c.3230T>A (p.Leu1077Gln)
c.3197T>A (p.Leu1066Gln)
c.3410T>A (p.Leu1137Gln)
Xg.53234779G>ACA516673611IQSEC2c.4066C>T (p.Leu1356=)
c.1453+1004C>T
c.962+1004C>T
c.316+1543C>T (n.316+1543C>T)
c.514+1543C>T (n.514+1543C>T)
c.*392C>T (n.*392C>T)
c.3907C>T (p.Leu1303=)
c.3877C>T (p.Leu1293=)
c.4003C>T (p.Leu1335=)
c.3292C>T (p.Leu1098=)
c.3597+1004C>T (n.3597+1004C>T)
c.3547+1543C>T (n.3547+1543C>T)
c.3229C>T (p.Leu1077=)
c.3196C>T (p.Leu1066=)
c.3409C>T (p.Leu1137=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234779G>CCA413140197IQSEC2c.4066C>G (p.Leu1356Val)
c.1453+1004C>G
c.962+1004C>G
c.316+1543C>G (n.316+1543C>G)
c.514+1543C>G (n.514+1543C>G)
c.*392C>G (n.*392C>G)
c.3907C>G (p.Leu1303Val)
c.3877C>G (p.Leu1293Val)
c.4003C>G (p.Leu1335Val)
c.3292C>G (p.Leu1098Val)
c.3597+1004C>G (n.3597+1004C>G)
c.3547+1543C>G (n.3547+1543C>G)
c.3229C>G (p.Leu1077Val)
c.3196C>G (p.Leu1066Val)
c.3409C>G (p.Leu1137Val)
 gnomAD v4
Xg.53234779G=CA2429770589IQSEC2c.4066C= (p.Leu1356=)
c.1453+1004C=
c.962+1004C=
c.316+1543C= (n.316+1543C=)
c.514+1543C= (n.514+1543C=)
c.*392C= (n.*392C=)
c.3907C= (p.Leu1303=)
c.3877C= (p.Leu1293=)
c.4003C= (p.Leu1335=)
c.3292C= (p.Leu1098=)
c.3597+1004C= (n.3597+1004C=)
c.3547+1543C= (n.3547+1543C=)
c.3229C= (p.Leu1077=)
c.3196C= (p.Leu1066=)
c.3409C= (p.Leu1137=)
Xg.53234779G>TCA413140198IQSEC2c.4066C>A (p.Leu1356Met)
c.1453+1004C>A
c.962+1004C>A
c.316+1543C>A (n.316+1543C>A)
c.514+1543C>A (n.514+1543C>A)
c.*392C>A (n.*392C>A)
c.3907C>A (p.Leu1303Met)
c.3877C>A (p.Leu1293Met)
c.4003C>A (p.Leu1335Met)
c.3292C>A (p.Leu1098Met)
c.3597+1004C>A (n.3597+1004C>A)
c.3547+1543C>A (n.3547+1543C>A)
c.3229C>A (p.Leu1077Met)
c.3196C>A (p.Leu1066Met)
c.3409C>A (p.Leu1137Met)
 gnomAD v4
Xg.53234780C>ACA413140200IQSEC2c.4065G>T (p.Gln1355His)
c.1453+1003G>T
c.962+1003G>T
c.316+1542G>T (n.316+1542G>T)
c.514+1542G>T (n.514+1542G>T)
c.*391G>T (n.*391G>T)
c.3906G>T (p.Gln1302His)
c.3876G>T (p.Gln1292His)
c.4002G>T (p.Gln1334His)
c.3291G>T (p.Gln1097His)
c.3597+1003G>T (n.3597+1003G>T)
c.3547+1542G>T (n.3547+1542G>T)
c.3228G>T (p.Gln1076His)
c.3195G>T (p.Gln1065His)
c.3408G>T (p.Gln1136His)
 dbSNP
Xg.53234780C=CA2429770590IQSEC2c.4065G= (p.Gln1355=)
c.1453+1003G=
c.962+1003G=
c.316+1542G= (n.316+1542G=)
c.514+1542G= (n.514+1542G=)
c.*391G= (n.*391G=)
c.3906G= (p.Gln1302=)
c.3876G= (p.Gln1292=)
c.4002G= (p.Gln1334=)
c.3291G= (p.Gln1097=)
c.3597+1003G= (n.3597+1003G=)
c.3547+1542G= (n.3547+1542G=)
c.3228G= (p.Gln1076=)
c.3195G= (p.Gln1065=)
c.3408G= (p.Gln1136=)
Xg.53234780C>GCA413140202IQSEC2c.4065G>C (p.Gln1355His)
c.1453+1003G>C
c.962+1003G>C
c.316+1542G>C (n.316+1542G>C)
c.514+1542G>C (n.514+1542G>C)
c.*391G>C (n.*391G>C)
c.3906G>C (p.Gln1302His)
c.3876G>C (p.Gln1292His)
c.4002G>C (p.Gln1334His)
c.3291G>C (p.Gln1097His)
c.3597+1003G>C (n.3597+1003G>C)
c.3547+1542G>C (n.3547+1542G>C)
c.3228G>C (p.Gln1076His)
c.3195G>C (p.Gln1065His)
c.3408G>C (p.Gln1136His)
Xg.53234780C>TCA516673612IQSEC2c.4065G>A (p.Gln1355=)
c.1453+1003G>A
c.962+1003G>A
c.316+1542G>A (n.316+1542G>A)
c.514+1542G>A (n.514+1542G>A)
c.*391G>A (n.*391G>A)
c.3906G>A (p.Gln1302=)
c.3876G>A (p.Gln1292=)
c.4002G>A (p.Gln1334=)
c.3291G>A (p.Gln1097=)
c.3597+1003G>A (n.3597+1003G>A)
c.3547+1542G>A (n.3547+1542G>A)
c.3228G>A (p.Gln1076=)
c.3195G>A (p.Gln1065=)
c.3408G>A (p.Gln1136=)
Xg.53234781T>ACA413140204IQSEC2c.4064A>T (p.Gln1355Leu)
c.1453+1002A>T
c.962+1002A>T
c.316+1541A>T (n.316+1541A>T)
c.514+1541A>T (n.514+1541A>T)
c.*390A>T (n.*390A>T)
c.3905A>T (p.Gln1302Leu)
c.3875A>T (p.Gln1292Leu)
c.4001A>T (p.Gln1334Leu)
c.3290A>T (p.Gln1097Leu)
c.3597+1002A>T (n.3597+1002A>T)
c.3547+1541A>T (n.3547+1541A>T)
c.3227A>T (p.Gln1076Leu)
c.3194A>T (p.Gln1065Leu)
c.3407A>T (p.Gln1136Leu)
Xg.53234781T>CCA413140205IQSEC2c.4064A>G (p.Gln1355Arg)
c.1453+1002A>G
c.962+1002A>G
c.316+1541A>G (n.316+1541A>G)
c.514+1541A>G (n.514+1541A>G)
c.*390A>G (n.*390A>G)
c.3905A>G (p.Gln1302Arg)
c.3875A>G (p.Gln1292Arg)
c.4001A>G (p.Gln1334Arg)
c.3290A>G (p.Gln1097Arg)
c.3597+1002A>G (n.3597+1002A>G)
c.3547+1541A>G (n.3547+1541A>G)
c.3227A>G (p.Gln1076Arg)
c.3194A>G (p.Gln1065Arg)
c.3407A>G (p.Gln1136Arg)
Xg.53234781T>GCA413140207IQSEC2c.4064A>C (p.Gln1355Pro)
c.1453+1002A>C
c.962+1002A>C
c.316+1541A>C (n.316+1541A>C)
c.514+1541A>C (n.514+1541A>C)
c.*390A>C (n.*390A>C)
c.3905A>C (p.Gln1302Pro)
c.3875A>C (p.Gln1292Pro)
c.4001A>C (p.Gln1334Pro)
c.3290A>C (p.Gln1097Pro)
c.3597+1002A>C (n.3597+1002A>C)
c.3547+1541A>C (n.3547+1541A>C)
c.3227A>C (p.Gln1076Pro)
c.3194A>C (p.Gln1065Pro)
c.3407A>C (p.Gln1136Pro)
 dbSNP gnomAD v4
Xg.53234781T=CA2429770591IQSEC2c.4064A= (p.Gln1355=)
c.1453+1002A=
c.962+1002A=
c.316+1541A= (n.316+1541A=)
c.514+1541A= (n.514+1541A=)
c.*390A= (n.*390A=)
c.3905A= (p.Gln1302=)
c.3875A= (p.Gln1292=)
c.4001A= (p.Gln1334=)
c.3290A= (p.Gln1097=)
c.3597+1002A= (n.3597+1002A=)
c.3547+1541A= (n.3547+1541A=)
c.3227A= (p.Gln1076=)
c.3194A= (p.Gln1065=)
c.3407A= (p.Gln1136=)
Xg.53234782G>ACA413140209IQSEC2c.4063C>T (p.Gln1355Ter)
c.1453+1001C>T
c.962+1001C>T
c.316+1540C>T (n.316+1540C>T)
c.514+1540C>T (n.514+1540C>T)
c.*389C>T (n.*389C>T)
c.3904C>T (p.Gln1302Ter)
c.3874C>T (p.Gln1292Ter)
c.4000C>T (p.Gln1334Ter)
c.3289C>T (p.Gln1097Ter)
c.3597+1001C>T (n.3597+1001C>T)
c.3547+1540C>T (n.3547+1540C>T)
c.3226C>T (p.Gln1076Ter)
c.3193C>T (p.Gln1065Ter)
c.3406C>T (p.Gln1136Ter)
 gnomAD v4
Xg.53234782G>CCA413140210IQSEC2c.4063C>G (p.Gln1355Glu)
c.1453+1001C>G
c.962+1001C>G
c.316+1540C>G (n.316+1540C>G)
c.514+1540C>G (n.514+1540C>G)
c.*389C>G (n.*389C>G)
c.3904C>G (p.Gln1302Glu)
c.3874C>G (p.Gln1292Glu)
c.4000C>G (p.Gln1334Glu)
c.3289C>G (p.Gln1097Glu)
c.3597+1001C>G (n.3597+1001C>G)
c.3547+1540C>G (n.3547+1540C>G)
c.3226C>G (p.Gln1076Glu)
c.3193C>G (p.Gln1065Glu)
c.3406C>G (p.Gln1136Glu)
Xg.53234782G>TCA413140212IQSEC2c.4063C>A (p.Gln1355Lys)
c.1453+1001C>A
c.962+1001C>A
c.316+1540C>A (n.316+1540C>A)
c.514+1540C>A (n.514+1540C>A)
c.*389C>A (n.*389C>A)
c.3904C>A (p.Gln1302Lys)
c.3874C>A (p.Gln1292Lys)
c.4000C>A (p.Gln1334Lys)
c.3289C>A (p.Gln1097Lys)
c.3597+1001C>A (n.3597+1001C>A)
c.3547+1540C>A (n.3547+1540C>A)
c.3226C>A (p.Gln1076Lys)
c.3193C>A (p.Gln1065Lys)
c.3406C>A (p.Gln1136Lys)
Xg.53234783G>ACA516673617IQSEC2c.4062C>T (p.Pro1354=)
c.1453+1000C>T
c.962+1000C>T
c.316+1539C>T (n.316+1539C>T)
c.514+1539C>T (n.514+1539C>T)
c.*388C>T (n.*388C>T)
c.3903C>T (p.Pro1301=)
c.3873C>T (p.Pro1291=)
c.3999C>T (p.Pro1333=)
c.3288C>T (p.Pro1096=)
c.3597+1000C>T (n.3597+1000C>T)
c.3547+1539C>T (n.3547+1539C>T)
c.3225C>T (p.Pro1075=)
c.3192C>T (p.Pro1064=)
c.3405C>T (p.Pro1135=)
 gnomAD v4
Xg.53234783G>CCA516673618IQSEC2c.4062C>G (p.Pro1354=)
c.1453+1000C>G
c.962+1000C>G
c.316+1539C>G (n.316+1539C>G)
c.514+1539C>G (n.514+1539C>G)
c.*388C>G (n.*388C>G)
c.3903C>G (p.Pro1301=)
c.3873C>G (p.Pro1291=)
c.3999C>G (p.Pro1333=)
c.3288C>G (p.Pro1096=)
c.3597+1000C>G (n.3597+1000C>G)
c.3547+1539C>G (n.3547+1539C>G)
c.3225C>G (p.Pro1075=)
c.3192C>G (p.Pro1064=)
c.3405C>G (p.Pro1135=)
Xg.53234783G>TCA516673616IQSEC2c.4062C>A (p.Pro1354=)
c.1453+1000C>A
c.962+1000C>A
c.316+1539C>A (n.316+1539C>A)
c.514+1539C>A (n.514+1539C>A)
c.*388C>A (n.*388C>A)
c.3903C>A (p.Pro1301=)
c.3873C>A (p.Pro1291=)
c.3999C>A (p.Pro1333=)
c.3288C>A (p.Pro1096=)
c.3597+1000C>A (n.3597+1000C>A)
c.3547+1539C>A (n.3547+1539C>A)
c.3225C>A (p.Pro1075=)
c.3192C>A (p.Pro1064=)
c.3405C>A (p.Pro1135=)
 gnomAD v4
Xg.53234784G>ACA413140217IQSEC2c.4061C>T (p.Pro1354Leu)
c.1453+999C>T
c.962+999C>T
c.316+1538C>T (n.316+1538C>T)
c.514+1538C>T (n.514+1538C>T)
c.*387C>T (n.*387C>T)
c.3902C>T (p.Pro1301Leu)
c.3872C>T (p.Pro1291Leu)
c.3998C>T (p.Pro1333Leu)
c.3287C>T (p.Pro1096Leu)
c.3597+999C>T (n.3597+999C>T)
c.3547+1538C>T (n.3547+1538C>T)
c.3224C>T (p.Pro1075Leu)
c.3191C>T (p.Pro1064Leu)
c.3404C>T (p.Pro1135Leu)
Xg.53234784G>CCA413140216IQSEC2c.4061C>G (p.Pro1354Arg)
c.1453+999C>G
c.962+999C>G
c.316+1538C>G (n.316+1538C>G)
c.514+1538C>G (n.514+1538C>G)
c.*387C>G (n.*387C>G)
c.3902C>G (p.Pro1301Arg)
c.3872C>G (p.Pro1291Arg)
c.3998C>G (p.Pro1333Arg)
c.3287C>G (p.Pro1096Arg)
c.3597+999C>G (n.3597+999C>G)
c.3547+1538C>G (n.3547+1538C>G)
c.3224C>G (p.Pro1075Arg)
c.3191C>G (p.Pro1064Arg)
c.3404C>G (p.Pro1135Arg)
Xg.53234784G>TCA413140214IQSEC2c.4061C>A (p.Pro1354His)
c.1453+999C>A
c.962+999C>A
c.316+1538C>A (n.316+1538C>A)
c.514+1538C>A (n.514+1538C>A)
c.*387C>A (n.*387C>A)
c.3902C>A (p.Pro1301His)
c.3872C>A (p.Pro1291His)
c.3998C>A (p.Pro1333His)
c.3287C>A (p.Pro1096His)
c.3597+999C>A (n.3597+999C>A)
c.3547+1538C>A (n.3547+1538C>A)
c.3224C>A (p.Pro1075His)
c.3191C>A (p.Pro1064His)
c.3404C>A (p.Pro1135His)
 gnomAD v4
Xg.53234785G>ACA413140220IQSEC2c.4060C>T (p.Pro1354Ser)
c.1453+998C>T
c.962+998C>T
c.316+1537C>T (n.316+1537C>T)
c.514+1537C>T (n.514+1537C>T)
c.*386C>T (n.*386C>T)
c.3901C>T (p.Pro1301Ser)
c.3871C>T (p.Pro1291Ser)
c.3997C>T (p.Pro1333Ser)
c.3286C>T (p.Pro1096Ser)
c.3597+998C>T (n.3597+998C>T)
c.3547+1537C>T (n.3547+1537C>T)
c.3223C>T (p.Pro1075Ser)
c.3190C>T (p.Pro1064Ser)
c.3403C>T (p.Pro1135Ser)
 gnomAD v4
Xg.53234785G>CCA413140221IQSEC2c.4060C>G (p.Pro1354Ala)
c.1453+998C>G
c.962+998C>G
c.316+1537C>G (n.316+1537C>G)
c.514+1537C>G (n.514+1537C>G)
c.*386C>G (n.*386C>G)
c.3901C>G (p.Pro1301Ala)
c.3871C>G (p.Pro1291Ala)
c.3997C>G (p.Pro1333Ala)
c.3286C>G (p.Pro1096Ala)
c.3597+998C>G (n.3597+998C>G)
c.3547+1537C>G (n.3547+1537C>G)
c.3223C>G (p.Pro1075Ala)
c.3190C>G (p.Pro1064Ala)
c.3403C>G (p.Pro1135Ala)
Xg.53234785G>TCA413140223IQSEC2c.4060C>A (p.Pro1354Thr)
c.1453+998C>A
c.962+998C>A
c.316+1537C>A (n.316+1537C>A)
c.514+1537C>A (n.514+1537C>A)
c.*386C>A (n.*386C>A)
c.3901C>A (p.Pro1301Thr)
c.3871C>A (p.Pro1291Thr)
c.3997C>A (p.Pro1333Thr)
c.3286C>A (p.Pro1096Thr)
c.3597+998C>A (n.3597+998C>A)
c.3547+1537C>A (n.3547+1537C>A)
c.3223C>A (p.Pro1075Thr)
c.3190C>A (p.Pro1064Thr)
c.3403C>A (p.Pro1135Thr)
Xg.53234786C>ACA413140225IQSEC2c.4059G>T (p.Leu1353Phe)
c.1453+997G>T
c.962+997G>T
c.316+1536G>T (n.316+1536G>T)
c.514+1536G>T (n.514+1536G>T)
c.*385G>T (n.*385G>T)
c.3900G>T (p.Leu1300Phe)
c.3870G>T (p.Leu1290Phe)
c.3996G>T (p.Leu1332Phe)
c.3285G>T (p.Leu1095Phe)
c.3597+997G>T (n.3597+997G>T)
c.3547+1536G>T (n.3547+1536G>T)
c.3222G>T (p.Leu1074Phe)
c.3189G>T (p.Leu1063Phe)
c.3402G>T (p.Leu1134Phe)
 gnomAD v4
Xg.53234786C>GCA413140226IQSEC2c.4059G>C (p.Leu1353Phe)
c.1453+997G>C
c.962+997G>C
c.316+1536G>C (n.316+1536G>C)
c.514+1536G>C (n.514+1536G>C)
c.*385G>C (n.*385G>C)
c.3900G>C (p.Leu1300Phe)
c.3870G>C (p.Leu1290Phe)
c.3996G>C (p.Leu1332Phe)
c.3285G>C (p.Leu1095Phe)
c.3597+997G>C (n.3597+997G>C)
c.3547+1536G>C (n.3547+1536G>C)
c.3222G>C (p.Leu1074Phe)
c.3189G>C (p.Leu1063Phe)
c.3402G>C (p.Leu1134Phe)
Xg.53234786C>TCA516673621IQSEC2c.4059G>A (p.Leu1353=)
c.1453+997G>A
c.962+997G>A
c.316+1536G>A (n.316+1536G>A)
c.514+1536G>A (n.514+1536G>A)
c.*385G>A (n.*385G>A)
c.3900G>A (p.Leu1300=)
c.3870G>A (p.Leu1290=)
c.3996G>A (p.Leu1332=)
c.3285G>A (p.Leu1095=)
c.3597+997G>A (n.3597+997G>A)
c.3547+1536G>A (n.3547+1536G>A)
c.3222G>A (p.Leu1074=)
c.3189G>A (p.Leu1063=)
c.3402G>A (p.Leu1134=)
 gnomAD v4
Xg.53234787A>CCA413140228IQSEC2c.4058T>G (p.Leu1353Trp)
c.1453+996T>G
c.962+996T>G
c.316+1535T>G (n.316+1535T>G)
c.514+1535T>G (n.514+1535T>G)
c.*384T>G (n.*384T>G)
c.3899T>G (p.Leu1300Trp)
c.3869T>G (p.Leu1290Trp)
c.3995T>G (p.Leu1332Trp)
c.3284T>G (p.Leu1095Trp)
c.3597+996T>G (n.3597+996T>G)
c.3547+1535T>G (n.3547+1535T>G)
c.3221T>G (p.Leu1074Trp)
c.3188T>G (p.Leu1063Trp)
c.3401T>G (p.Leu1134Trp)
Xg.53234787A>GCA413140229IQSEC2c.4058T>C (p.Leu1353Ser)
c.1453+996T>C
c.962+996T>C
c.316+1535T>C (n.316+1535T>C)
c.514+1535T>C (n.514+1535T>C)
c.*384T>C (n.*384T>C)
c.3899T>C (p.Leu1300Ser)
c.3869T>C (p.Leu1290Ser)
c.3995T>C (p.Leu1332Ser)
c.3284T>C (p.Leu1095Ser)
c.3597+996T>C (n.3597+996T>C)
c.3547+1535T>C (n.3547+1535T>C)
c.3221T>C (p.Leu1074Ser)
c.3188T>C (p.Leu1063Ser)
c.3401T>C (p.Leu1134Ser)
Xg.53234787A>TCA413140231IQSEC2c.4058T>A (p.Leu1353Ter)
c.1453+996T>A
c.962+996T>A
c.316+1535T>A (n.316+1535T>A)
c.514+1535T>A (n.514+1535T>A)
c.*384T>A (n.*384T>A)
c.3899T>A (p.Leu1300Ter)
c.3869T>A (p.Leu1290Ter)
c.3995T>A (p.Leu1332Ter)
c.3284T>A (p.Leu1095Ter)
c.3597+996T>A (n.3597+996T>A)
c.3547+1535T>A (n.3547+1535T>A)
c.3221T>A (p.Leu1074Ter)
c.3188T>A (p.Leu1063Ter)
c.3401T>A (p.Leu1134Ter)
Xg.53234788A=CA2429770592IQSEC2c.4057T= (p.Leu1353=)
c.1453+995T=
c.962+995T=
c.316+1534T= (n.316+1534T=)
c.514+1534T= (n.514+1534T=)
c.*383T= (n.*383T=)
c.3898T= (p.Leu1300=)
c.3868T= (p.Leu1290=)
c.3994T= (p.Leu1332=)
c.3283T= (p.Leu1095=)
c.3597+995T= (n.3597+995T=)
c.3547+1534T= (n.3547+1534T=)
c.3220T= (p.Leu1074=)
c.3187T= (p.Leu1063=)
c.3400T= (p.Leu1134=)
Xg.53234788A>CCA413140233IQSEC2c.4057T>G (p.Leu1353Val)
c.1453+995T>G
c.962+995T>G
c.316+1534T>G (n.316+1534T>G)
c.514+1534T>G (n.514+1534T>G)
c.*383T>G (n.*383T>G)
c.3898T>G (p.Leu1300Val)
c.3868T>G (p.Leu1290Val)
c.3994T>G (p.Leu1332Val)
c.3283T>G (p.Leu1095Val)
c.3597+995T>G (n.3597+995T>G)
c.3547+1534T>G (n.3547+1534T>G)
c.3220T>G (p.Leu1074Val)
c.3187T>G (p.Leu1063Val)
c.3400T>G (p.Leu1134Val)
Xg.53234788A>GCA516673623IQSEC2c.4057T>C (p.Leu1353=)
c.1453+995T>C
c.962+995T>C
c.316+1534T>C (n.316+1534T>C)
c.514+1534T>C (n.514+1534T>C)
c.*383T>C (n.*383T>C)
c.3898T>C (p.Leu1300=)
c.3868T>C (p.Leu1290=)
c.3994T>C (p.Leu1332=)
c.3283T>C (p.Leu1095=)
c.3597+995T>C (n.3597+995T>C)
c.3547+1534T>C (n.3547+1534T>C)
c.3220T>C (p.Leu1074=)
c.3187T>C (p.Leu1063=)
c.3400T>C (p.Leu1134=)
 dbSNP gnomAD v4
Xg.53234788A>TCA413140235IQSEC2c.4057T>A (p.Leu1353Met)
c.1453+995T>A
c.962+995T>A
c.316+1534T>A (n.316+1534T>A)
c.514+1534T>A (n.514+1534T>A)
c.*383T>A (n.*383T>A)
c.3898T>A (p.Leu1300Met)
c.3868T>A (p.Leu1290Met)
c.3994T>A (p.Leu1332Met)
c.3283T>A (p.Leu1095Met)
c.3597+995T>A (n.3597+995T>A)
c.3547+1534T>A (n.3547+1534T>A)
c.3220T>A (p.Leu1074Met)
c.3187T>A (p.Leu1063Met)
c.3400T>A (p.Leu1134Met)
 gnomAD v4
Xg.53234789G>ACA516673624IQSEC2c.4056C>T (p.Pro1352=)
c.1453+994C>T
c.962+994C>T
c.316+1533C>T (n.316+1533C>T)
c.514+1533C>T (n.514+1533C>T)
c.*382C>T (n.*382C>T)
c.3897C>T (p.Pro1299=)
c.3867C>T (p.Pro1289=)
c.3993C>T (p.Pro1331=)
c.3282C>T (p.Pro1094=)
c.3597+994C>T (n.3597+994C>T)
c.3547+1533C>T (n.3547+1533C>T)
c.3219C>T (p.Pro1073=)
c.3186C>T (p.Pro1062=)
c.3399C>T (p.Pro1133=)
 gnomAD v4
Xg.53234789G>CCA516673625IQSEC2c.4056C>G (p.Pro1352=)
c.1453+994C>G
c.962+994C>G
c.316+1533C>G (n.316+1533C>G)
c.514+1533C>G (n.514+1533C>G)
c.*382C>G (n.*382C>G)
c.3897C>G (p.Pro1299=)
c.3867C>G (p.Pro1289=)
c.3993C>G (p.Pro1331=)
c.3282C>G (p.Pro1094=)
c.3597+994C>G (n.3597+994C>G)
c.3547+1533C>G (n.3547+1533C>G)
c.3219C>G (p.Pro1073=)
c.3186C>G (p.Pro1062=)
c.3399C>G (p.Pro1133=)
Xg.53234789G>TCA516673626IQSEC2c.4056C>A (p.Pro1352=)
c.1453+994C>A
c.962+994C>A
c.316+1533C>A (n.316+1533C>A)
c.514+1533C>A (n.514+1533C>A)
c.*382C>A (n.*382C>A)
c.3897C>A (p.Pro1299=)
c.3867C>A (p.Pro1289=)
c.3993C>A (p.Pro1331=)
c.3282C>A (p.Pro1094=)
c.3597+994C>A (n.3597+994C>A)
c.3547+1533C>A (n.3547+1533C>A)
c.3219C>A (p.Pro1073=)
c.3186C>A (p.Pro1062=)
c.3399C>A (p.Pro1133=)
 gnomAD v4
Xg.53234790G>ACA413140236IQSEC2c.4055C>T (p.Pro1352Leu)
c.1453+993C>T
c.962+993C>T
c.316+1532C>T (n.316+1532C>T)
c.514+1532C>T (n.514+1532C>T)
c.*381C>T (n.*381C>T)
c.3896C>T (p.Pro1299Leu)
c.3866C>T (p.Pro1289Leu)
c.3992C>T (p.Pro1331Leu)
c.3281C>T (p.Pro1094Leu)
c.3597+993C>T (n.3597+993C>T)
c.3547+1532C>T (n.3547+1532C>T)
c.3218C>T (p.Pro1073Leu)
c.3185C>T (p.Pro1062Leu)
c.3398C>T (p.Pro1133Leu)
 gnomAD v4
Xg.53234790G>CCA413140238IQSEC2c.4055C>G (p.Pro1352Arg)
c.1453+993C>G
c.962+993C>G
c.316+1532C>G (n.316+1532C>G)
c.514+1532C>G (n.514+1532C>G)
c.*381C>G (n.*381C>G)
c.3896C>G (p.Pro1299Arg)
c.3866C>G (p.Pro1289Arg)
c.3992C>G (p.Pro1331Arg)
c.3281C>G (p.Pro1094Arg)
c.3597+993C>G (n.3597+993C>G)
c.3547+1532C>G (n.3547+1532C>G)
c.3218C>G (p.Pro1073Arg)
c.3185C>G (p.Pro1062Arg)
c.3398C>G (p.Pro1133Arg)
Xg.53234790G=CA2429770593IQSEC2c.4055C= (p.Pro1352=)
c.1453+993C=
c.962+993C=
c.316+1532C= (n.316+1532C=)
c.514+1532C= (n.514+1532C=)
c.*381C= (n.*381C=)
c.3896C= (p.Pro1299=)
c.3866C= (p.Pro1289=)
c.3992C= (p.Pro1331=)
c.3281C= (p.Pro1094=)
c.3597+993C= (n.3597+993C=)
c.3547+1532C= (n.3547+1532C=)
c.3218C= (p.Pro1073=)
c.3185C= (p.Pro1062=)
c.3398C= (p.Pro1133=)
Xg.53234790G>TCA413140239IQSEC2c.4055C>A (p.Pro1352His)
c.1453+993C>A
c.962+993C>A
c.316+1532C>A (n.316+1532C>A)
c.514+1532C>A (n.514+1532C>A)
c.*381C>A (n.*381C>A)
c.3896C>A (p.Pro1299His)
c.3866C>A (p.Pro1289His)
c.3992C>A (p.Pro1331His)
c.3281C>A (p.Pro1094His)
c.3597+993C>A (n.3597+993C>A)
c.3547+1532C>A (n.3547+1532C>A)
c.3218C>A (p.Pro1073His)
c.3185C>A (p.Pro1062His)
c.3398C>A (p.Pro1133His)
 dbSNP gnomAD v4
Xg.53234791G>ACA10419772IQSEC2c.4054C>T (p.Pro1352Ser)
c.1453+992C>T
c.962+992C>T
c.316+1531C>T (n.316+1531C>T)
c.514+1531C>T (n.514+1531C>T)
c.*380C>T (n.*380C>T)
c.3895C>T (p.Pro1299Ser)
c.3865C>T (p.Pro1289Ser)
c.3991C>T (p.Pro1331Ser)
c.3280C>T (p.Pro1094Ser)
c.3597+992C>T (n.3597+992C>T)
c.3547+1531C>T (n.3547+1531C>T)
c.3217C>T (p.Pro1073Ser)
c.3184C>T (p.Pro1062Ser)
c.3397C>T (p.Pro1133Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53234791G>CCA413140244IQSEC2c.4054C>G (p.Pro1352Ala)
c.1453+992C>G
c.962+992C>G
c.316+1531C>G (n.316+1531C>G)
c.514+1531C>G (n.514+1531C>G)
c.*380C>G (n.*380C>G)
c.3895C>G (p.Pro1299Ala)
c.3865C>G (p.Pro1289Ala)
c.3991C>G (p.Pro1331Ala)
c.3280C>G (p.Pro1094Ala)
c.3597+992C>G (n.3597+992C>G)
c.3547+1531C>G (n.3547+1531C>G)
c.3217C>G (p.Pro1073Ala)
c.3184C>G (p.Pro1062Ala)
c.3397C>G (p.Pro1133Ala)
Xg.53234791G=CA2429770594IQSEC2c.4054C= (p.Pro1352=)
c.1453+992C=
c.962+992C=
c.316+1531C= (n.316+1531C=)
c.514+1531C= (n.514+1531C=)
c.*380C= (n.*380C=)
c.3895C= (p.Pro1299=)
c.3865C= (p.Pro1289=)
c.3991C= (p.Pro1331=)
c.3280C= (p.Pro1094=)
c.3597+992C= (n.3597+992C=)
c.3547+1531C= (n.3547+1531C=)
c.3217C= (p.Pro1073=)
c.3184C= (p.Pro1062=)
c.3397C= (p.Pro1133=)
Xg.53234791G>TCA413140242IQSEC2c.4054C>A (p.Pro1352Thr)
c.1453+992C>A
c.962+992C>A
c.316+1531C>A (n.316+1531C>A)
c.514+1531C>A (n.514+1531C>A)
c.*380C>A (n.*380C>A)
c.3895C>A (p.Pro1299Thr)
c.3865C>A (p.Pro1289Thr)
c.3991C>A (p.Pro1331Thr)
c.3280C>A (p.Pro1094Thr)
c.3597+992C>A (n.3597+992C>A)
c.3547+1531C>A (n.3547+1531C>A)
c.3217C>A (p.Pro1073Thr)
c.3184C>A (p.Pro1062Thr)
c.3397C>A (p.Pro1133Thr)
 gnomAD v4
Xg.53234792T>ACA516673631IQSEC2c.4053A>T (p.Pro1351=)
c.1453+991A>T
c.962+991A>T
c.316+1530A>T (n.316+1530A>T)
c.514+1530A>T (n.514+1530A>T)
c.*379A>T (n.*379A>T)
c.3894A>T (p.Pro1298=)
c.3864A>T (p.Pro1288=)
c.3990A>T (p.Pro1330=)
c.3279A>T (p.Pro1093=)
c.3597+991A>T (n.3597+991A>T)
c.3547+1530A>T (n.3547+1530A>T)
c.3216A>T (p.Pro1072=)
c.3183A>T (p.Pro1061=)
c.3396A>T (p.Pro1132=)
 gnomAD v4
Xg.53234792T>CCA516673632IQSEC2c.4053A>G (p.Pro1351=)
c.1453+991A>G
c.962+991A>G
c.316+1530A>G (n.316+1530A>G)
c.514+1530A>G (n.514+1530A>G)
c.*379A>G (n.*379A>G)
c.3894A>G (p.Pro1298=)
c.3864A>G (p.Pro1288=)
c.3990A>G (p.Pro1330=)
c.3279A>G (p.Pro1093=)
c.3597+991A>G (n.3597+991A>G)
c.3547+1530A>G (n.3547+1530A>G)
c.3216A>G (p.Pro1072=)
c.3183A>G (p.Pro1061=)
c.3396A>G (p.Pro1132=)
 gnomAD v3 gnomAD v4
Xg.53234792T>GCA516673633IQSEC2c.4053A>C (p.Pro1351=)
c.1453+991A>C
c.962+991A>C
c.316+1530A>C (n.316+1530A>C)
c.514+1530A>C (n.514+1530A>C)
c.*379A>C (n.*379A>C)
c.3894A>C (p.Pro1298=)
c.3864A>C (p.Pro1288=)
c.3990A>C (p.Pro1330=)
c.3279A>C (p.Pro1093=)
c.3597+991A>C (n.3597+991A>C)
c.3547+1530A>C (n.3547+1530A>C)
c.3216A>C (p.Pro1072=)
c.3183A>C (p.Pro1061=)
c.3396A>C (p.Pro1132=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53234792T=CA2429770595IQSEC2c.4053A= (p.Pro1351=)
c.1453+991A=
c.962+991A=
c.316+1530A= (n.316+1530A=)
c.514+1530A= (n.514+1530A=)
c.*379A= (n.*379A=)
c.3894A= (p.Pro1298=)
c.3864A= (p.Pro1288=)
c.3990A= (p.Pro1330=)
c.3279A= (p.Pro1093=)
c.3597+991A= (n.3597+991A=)
c.3547+1530A= (n.3547+1530A=)
c.3216A= (p.Pro1072=)
c.3183A= (p.Pro1061=)
c.3396A= (p.Pro1132=)
Xg.53234793G>ACA413140250IQSEC2c.4052C>T (p.Pro1351Leu)
c.1453+990C>T
c.962+990C>T
c.316+1529C>T (n.316+1529C>T)
c.514+1529C>T (n.514+1529C>T)
c.*378C>T (n.*378C>T)
c.3893C>T (p.Pro1298Leu)
c.3863C>T (p.Pro1288Leu)
c.3989C>T (p.Pro1330Leu)
c.3278C>T (p.Pro1093Leu)
c.3597+990C>T (n.3597+990C>T)
c.3547+1529C>T (n.3547+1529C>T)
c.3215C>T (p.Pro1072Leu)
c.3182C>T (p.Pro1061Leu)
c.3395C>T (p.Pro1132Leu)
Xg.53234793G>CCA413140246IQSEC2c.4052C>G (p.Pro1351Arg)
c.1453+990C>G
c.962+990C>G
c.316+1529C>G (n.316+1529C>G)
c.514+1529C>G (n.514+1529C>G)
c.*378C>G (n.*378C>G)
c.3893C>G (p.Pro1298Arg)
c.3863C>G (p.Pro1288Arg)
c.3989C>G (p.Pro1330Arg)
c.3278C>G (p.Pro1093Arg)
c.3597+990C>G (n.3597+990C>G)
c.3547+1529C>G (n.3547+1529C>G)
c.3215C>G (p.Pro1072Arg)
c.3182C>G (p.Pro1061Arg)
c.3395C>G (p.Pro1132Arg)
Xg.53234793G>TCA413140248IQSEC2c.4052C>A (p.Pro1351Gln)
c.1453+990C>A
c.962+990C>A
c.316+1529C>A (n.316+1529C>A)
c.514+1529C>A (n.514+1529C>A)
c.*378C>A (n.*378C>A)
c.3893C>A (p.Pro1298Gln)
c.3863C>A (p.Pro1288Gln)
c.3989C>A (p.Pro1330Gln)
c.3278C>A (p.Pro1093Gln)
c.3597+990C>A (n.3597+990C>A)
c.3547+1529C>A (n.3547+1529C>A)
c.3215C>A (p.Pro1072Gln)
c.3182C>A (p.Pro1061Gln)
c.3395C>A (p.Pro1132Gln)
 gnomAD v4
Xg.53234797dupCA2820950183IQSEC2c.4052dup (p.Pro1352ThrfsTer?)
c.1453+990dup
c.962+990dup
c.316+1529dup (n.316+1529dup)
c.514+1529dup (n.514+1529dup)
c.*378dup (n.*378dup)
c.3893dup (p.Pro1299ThrfsTer?)
c.3863dup (p.Pro1289ThrfsTer?)
c.3989dup (p.Pro1331ThrfsTer?)
c.3278dup (p.Pro1094ThrfsTer?)
c.3597+990dup (n.3597+990dup)
c.3547+1529dup (n.3547+1529dup)
c.3215dup (p.Pro1073ThrfsTer?)
c.3182dup (p.Pro1062ThrfsTer?)
c.3395dup (p.Pro1133ThrfsTer?)
Xg.53234797delCA2693794286IQSEC2c.4052del (p.Pro1351HisfsTer?)
c.1453+990del
c.962+990del
c.316+1529del (n.316+1529del)
c.514+1529del (n.514+1529del)
c.*378del (n.*378del)
c.3893del (p.Pro1298HisfsTer?)
c.3863del (p.Pro1288HisfsTer?)
c.3989del (p.Pro1330HisfsTer?)
c.3278del (p.Pro1093HisfsTer?)
c.3597+990del (n.3597+990del)
c.3547+1529del (n.3547+1529del)
c.3215del (p.Pro1072HisfsTer?)
c.3182del (p.Pro1061HisfsTer?)
c.3395del (p.Pro1132HisfsTer?)
 gnomAD v4
Xg.53234794_53234820delCA2693794287IQSEC2c.4026_4052del (p.Leu1343_Pro1351del)
c.1453+964_1453+990del
c.962+964_962+990del
c.316+1503_316+1529del (n.316+1503_316+1529del)
c.514+1503_514+1529del (n.514+1503_514+1529del)
c.*352_*378del (n.*352_*378del)
c.3867_3893del (p.Leu1290_Pro1298del)
c.3837_3863del (p.Leu1280_Pro1288del)
c.3963_3989del (p.Leu1322_Pro1330del)
c.3252_3278del (p.Leu1085_Pro1093del)
c.3597+964_3597+990del (n.3597+964_3597+990del)
c.3547+1503_3547+1529del (n.3547+1503_3547+1529del)
c.3189_3215del (p.Leu1064_Pro1072del)
c.3156_3182del (p.Leu1053_Pro1061del)
c.3369_3395del (p.Leu1124_Pro1132del)
 gnomAD v4
Xg.53234794G>ACA413140252IQSEC2c.4051C>T (p.Pro1351Ser)
c.1453+989C>T
c.962+989C>T
c.316+1528C>T (n.316+1528C>T)
c.514+1528C>T (n.514+1528C>T)
c.*377C>T (n.*377C>T)
c.3892C>T (p.Pro1298Ser)
c.3862C>T (p.Pro1288Ser)
c.3988C>T (p.Pro1330Ser)
c.3277C>T (p.Pro1093Ser)
c.3597+989C>T (n.3597+989C>T)
c.3547+1528C>T (n.3547+1528C>T)
c.3214C>T (p.Pro1072Ser)
c.3181C>T (p.Pro1061Ser)
c.3394C>T (p.Pro1132Ser)
Xg.53234794G>CCA413140254IQSEC2c.4051C>G (p.Pro1351Ala)
c.1453+989C>G
c.962+989C>G
c.316+1528C>G (n.316+1528C>G)
c.514+1528C>G (n.514+1528C>G)
c.*377C>G (n.*377C>G)
c.3892C>G (p.Pro1298Ala)
c.3862C>G (p.Pro1288Ala)
c.3988C>G (p.Pro1330Ala)
c.3277C>G (p.Pro1093Ala)
c.3597+989C>G (n.3597+989C>G)
c.3547+1528C>G (n.3547+1528C>G)
c.3214C>G (p.Pro1072Ala)
c.3181C>G (p.Pro1061Ala)
c.3394C>G (p.Pro1132Ala)
Xg.53234794G>TCA413140256IQSEC2c.4051C>A (p.Pro1351Thr)
c.1453+989C>A
c.962+989C>A
c.316+1528C>A (n.316+1528C>A)
c.514+1528C>A (n.514+1528C>A)
c.*377C>A (n.*377C>A)
c.3892C>A (p.Pro1298Thr)
c.3862C>A (p.Pro1288Thr)
c.3988C>A (p.Pro1330Thr)
c.3277C>A (p.Pro1093Thr)
c.3597+989C>A (n.3597+989C>A)
c.3547+1528C>A (n.3547+1528C>A)
c.3214C>A (p.Pro1072Thr)
c.3181C>A (p.Pro1061Thr)
c.3394C>A (p.Pro1132Thr)

Number of alleles fetched