Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53235089G>ACA516673950IQSEC2c.3756C>T (p.Ser1252=)
c.1453+694C>T
c.962+694C>T
c.316+1233C>T (n.316+1233C>T)
c.514+1233C>T (n.514+1233C>T)
c.*82C>T (n.*82C>T)
c.3597C>T (p.Ser1199=)
c.3567C>T (p.Ser1189=)
c.3693C>T (p.Ser1231=)
c.2982C>T (p.Ser994=)
c.3597+694C>T (n.3597+694C>T)
c.3547+1233C>T (n.3547+1233C>T)
c.2919C>T (p.Ser973=)
c.2886C>T (p.Ser962=)
c.3099C>T (p.Ser1033=)
Xg.53235089G>CCA516673951IQSEC2c.3756C>G (p.Ser1252=)
c.1453+694C>G
c.962+694C>G
c.316+1233C>G (n.316+1233C>G)
c.514+1233C>G (n.514+1233C>G)
c.*82C>G (n.*82C>G)
c.3597C>G (p.Ser1199=)
c.3567C>G (p.Ser1189=)
c.3693C>G (p.Ser1231=)
c.2982C>G (p.Ser994=)
c.3597+694C>G (n.3597+694C>G)
c.3547+1233C>G (n.3547+1233C>G)
c.2919C>G (p.Ser973=)
c.2886C>G (p.Ser962=)
c.3099C>G (p.Ser1033=)
Xg.53235089G>TCA516673952IQSEC2c.3756C>A (p.Ser1252=)
c.1453+694C>A
c.962+694C>A
c.316+1233C>A (n.316+1233C>A)
c.514+1233C>A (n.514+1233C>A)
c.*82C>A (n.*82C>A)
c.3597C>A (p.Ser1199=)
c.3567C>A (p.Ser1189=)
c.3693C>A (p.Ser1231=)
c.2982C>A (p.Ser994=)
c.3597+694C>A (n.3597+694C>A)
c.3547+1233C>A (n.3547+1233C>A)
c.2919C>A (p.Ser973=)
c.2886C>A (p.Ser962=)
c.3099C>A (p.Ser1033=)
Xg.53235090G>ACA413142145IQSEC2c.3755C>T (p.Ser1252Phe)
c.1453+693C>T
c.962+693C>T
c.316+1232C>T (n.316+1232C>T)
c.514+1232C>T (n.514+1232C>T)
c.*81C>T (n.*81C>T)
c.3596C>T (p.Ser1199Phe)
c.3566C>T (p.Ser1189Phe)
c.3692C>T (p.Ser1231Phe)
c.2981C>T (p.Ser994Phe)
c.3597+693C>T (n.3597+693C>T)
c.3547+1232C>T (n.3547+1232C>T)
c.2918C>T (p.Ser973Phe)
c.2885C>T (p.Ser962Phe)
c.3098C>T (p.Ser1033Phe)
Xg.53235090G>CCA413142147IQSEC2c.3755C>G (p.Ser1252Cys)
c.1453+693C>G
c.962+693C>G
c.316+1232C>G (n.316+1232C>G)
c.514+1232C>G (n.514+1232C>G)
c.*81C>G (n.*81C>G)
c.3596C>G (p.Ser1199Cys)
c.3566C>G (p.Ser1189Cys)
c.3692C>G (p.Ser1231Cys)
c.2981C>G (p.Ser994Cys)
c.3597+693C>G (n.3597+693C>G)
c.3547+1232C>G (n.3547+1232C>G)
c.2918C>G (p.Ser973Cys)
c.2885C>G (p.Ser962Cys)
c.3098C>G (p.Ser1033Cys)
Xg.53235090G>TCA413142148IQSEC2c.3755C>A (p.Ser1252Tyr)
c.1453+693C>A
c.962+693C>A
c.316+1232C>A (n.316+1232C>A)
c.514+1232C>A (n.514+1232C>A)
c.*81C>A (n.*81C>A)
c.3596C>A (p.Ser1199Tyr)
c.3566C>A (p.Ser1189Tyr)
c.3692C>A (p.Ser1231Tyr)
c.2981C>A (p.Ser994Tyr)
c.3597+693C>A (n.3597+693C>A)
c.3547+1232C>A (n.3547+1232C>A)
c.2918C>A (p.Ser973Tyr)
c.2885C>A (p.Ser962Tyr)
c.3098C>A (p.Ser1033Tyr)
Xg.53235091A>CCA413142150IQSEC2c.3754T>G (p.Ser1252Ala)
c.1453+692T>G
c.962+692T>G
c.316+1231T>G (n.316+1231T>G)
c.514+1231T>G (n.514+1231T>G)
c.*80T>G (n.*80T>G)
c.3595T>G (p.Ser1199Ala)
c.3565T>G (p.Ser1189Ala)
c.3691T>G (p.Ser1231Ala)
c.2980T>G (p.Ser994Ala)
c.3597+692T>G (n.3597+692T>G)
c.3547+1231T>G (n.3547+1231T>G)
c.2917T>G (p.Ser973Ala)
c.2884T>G (p.Ser962Ala)
c.3097T>G (p.Ser1033Ala)
Xg.53235091A>GCA413142154IQSEC2c.3754T>C (p.Ser1252Pro)
c.1453+692T>C
c.962+692T>C
c.316+1231T>C (n.316+1231T>C)
c.514+1231T>C (n.514+1231T>C)
c.*80T>C (n.*80T>C)
c.3595T>C (p.Ser1199Pro)
c.3565T>C (p.Ser1189Pro)
c.3691T>C (p.Ser1231Pro)
c.2980T>C (p.Ser994Pro)
c.3597+692T>C (n.3597+692T>C)
c.3547+1231T>C (n.3547+1231T>C)
c.2917T>C (p.Ser973Pro)
c.2884T>C (p.Ser962Pro)
c.3097T>C (p.Ser1033Pro)
 gnomAD v4
Xg.53235091A>TCA413142157IQSEC2c.3754T>A (p.Ser1252Thr)
c.1453+692T>A
c.962+692T>A
c.316+1231T>A (n.316+1231T>A)
c.514+1231T>A (n.514+1231T>A)
c.*80T>A (n.*80T>A)
c.3595T>A (p.Ser1199Thr)
c.3565T>A (p.Ser1189Thr)
c.3691T>A (p.Ser1231Thr)
c.2980T>A (p.Ser994Thr)
c.3597+692T>A (n.3597+692T>A)
c.3547+1231T>A (n.3547+1231T>A)
c.2917T>A (p.Ser973Thr)
c.2884T>A (p.Ser962Thr)
c.3097T>A (p.Ser1033Thr)
Xg.53235091_53235094delCA2693794346IQSEC2c.3751_3754del (p.Val1251ProfsTer?)
c.1453+689_1453+692del
c.962+689_962+692del
c.316+1228_316+1231del (n.316+1228_316+1231del)
c.514+1228_514+1231del (n.514+1228_514+1231del)
c.*77_*80del (n.*77_*80del)
c.3592_3595del (p.Val1198ProfsTer?)
c.3562_3565del (p.Val1188ProfsTer?)
c.3688_3691del (p.Val1230ProfsTer?)
c.2977_2980del (p.Val993ProfsTer?)
c.3597+689_3597+692del (n.3597+689_3597+692del)
c.3547+1228_3547+1231del (n.3547+1228_3547+1231del)
c.2914_2917del (p.Val972ProfsTer?)
c.2881_2884del (p.Val961ProfsTer?)
c.3094_3097del (p.Val1032ProfsTer?)
 gnomAD v4
Xg.53235092G>ACA516673958IQSEC2c.3753C>T (p.Val1251=)
c.1453+691C>T
c.962+691C>T
c.316+1230C>T (n.316+1230C>T)
c.514+1230C>T (n.514+1230C>T)
c.*79C>T (n.*79C>T)
c.3594C>T (p.Val1198=)
c.3564C>T (p.Val1188=)
c.3690C>T (p.Val1230=)
c.2979C>T (p.Val993=)
c.3597+691C>T (n.3597+691C>T)
c.3547+1230C>T (n.3547+1230C>T)
c.2916C>T (p.Val972=)
c.2883C>T (p.Val961=)
c.3096C>T (p.Val1032=)
Xg.53235092G>CCA516673960IQSEC2c.3753C>G (p.Val1251=)
c.1453+691C>G
c.962+691C>G
c.316+1230C>G (n.316+1230C>G)
c.514+1230C>G (n.514+1230C>G)
c.*79C>G (n.*79C>G)
c.3594C>G (p.Val1198=)
c.3564C>G (p.Val1188=)
c.3690C>G (p.Val1230=)
c.2979C>G (p.Val993=)
c.3597+691C>G (n.3597+691C>G)
c.3547+1230C>G (n.3547+1230C>G)
c.2916C>G (p.Val972=)
c.2883C>G (p.Val961=)
c.3096C>G (p.Val1032=)
Xg.53235092G>TCA516673961IQSEC2c.3753C>A (p.Val1251=)
c.1453+691C>A
c.962+691C>A
c.316+1230C>A (n.316+1230C>A)
c.514+1230C>A (n.514+1230C>A)
c.*79C>A (n.*79C>A)
c.3594C>A (p.Val1198=)
c.3564C>A (p.Val1188=)
c.3690C>A (p.Val1230=)
c.2979C>A (p.Val993=)
c.3597+691C>A (n.3597+691C>A)
c.3547+1230C>A (n.3547+1230C>A)
c.2916C>A (p.Val972=)
c.2883C>A (p.Val961=)
c.3096C>A (p.Val1032=)
 gnomAD v4
Xg.53235093A>CCA413142163IQSEC2c.3752T>G (p.Val1251Gly)
c.1453+690T>G
c.962+690T>G
c.316+1229T>G (n.316+1229T>G)
c.514+1229T>G (n.514+1229T>G)
c.*78T>G (n.*78T>G)
c.3593T>G (p.Val1198Gly)
c.3563T>G (p.Val1188Gly)
c.3689T>G (p.Val1230Gly)
c.2978T>G (p.Val993Gly)
c.3597+690T>G (n.3597+690T>G)
c.3547+1229T>G (n.3547+1229T>G)
c.2915T>G (p.Val972Gly)
c.2882T>G (p.Val961Gly)
c.3095T>G (p.Val1032Gly)
Xg.53235093A>GCA413142166IQSEC2c.3752T>C (p.Val1251Ala)
c.1453+690T>C
c.962+690T>C
c.316+1229T>C (n.316+1229T>C)
c.514+1229T>C (n.514+1229T>C)
c.*78T>C (n.*78T>C)
c.3593T>C (p.Val1198Ala)
c.3563T>C (p.Val1188Ala)
c.3689T>C (p.Val1230Ala)
c.2978T>C (p.Val993Ala)
c.3597+690T>C (n.3597+690T>C)
c.3547+1229T>C (n.3547+1229T>C)
c.2915T>C (p.Val972Ala)
c.2882T>C (p.Val961Ala)
c.3095T>C (p.Val1032Ala)
Xg.53235093A>TCA413142169IQSEC2c.3752T>A (p.Val1251Asp)
c.1453+690T>A
c.962+690T>A
c.316+1229T>A (n.316+1229T>A)
c.514+1229T>A (n.514+1229T>A)
c.*78T>A (n.*78T>A)
c.3593T>A (p.Val1198Asp)
c.3563T>A (p.Val1188Asp)
c.3689T>A (p.Val1230Asp)
c.2978T>A (p.Val993Asp)
c.3597+690T>A (n.3597+690T>A)
c.3547+1229T>A (n.3547+1229T>A)
c.2915T>A (p.Val972Asp)
c.2882T>A (p.Val961Asp)
c.3095T>A (p.Val1032Asp)
Xg.53235094C>ACA413142179IQSEC2c.3751G>T (p.Val1251Phe)
c.1453+689G>T
c.962+689G>T
c.316+1228G>T (n.316+1228G>T)
c.514+1228G>T (n.514+1228G>T)
c.*77G>T (n.*77G>T)
c.3592G>T (p.Val1198Phe)
c.3562G>T (p.Val1188Phe)
c.3688G>T (p.Val1230Phe)
c.2977G>T (p.Val993Phe)
c.3597+689G>T (n.3597+689G>T)
c.3547+1228G>T (n.3547+1228G>T)
c.2914G>T (p.Val972Phe)
c.2881G>T (p.Val961Phe)
c.3094G>T (p.Val1032Phe)
Xg.53235094C=CA2429770690IQSEC2c.3751G= (p.Val1251=)
c.1453+689G=
c.962+689G=
c.316+1228G= (n.316+1228G=)
c.514+1228G= (n.514+1228G=)
c.*77G= (n.*77G=)
c.3592G= (p.Val1198=)
c.3562G= (p.Val1188=)
c.3688G= (p.Val1230=)
c.2977G= (p.Val993=)
c.3597+689G= (n.3597+689G=)
c.3547+1228G= (n.3547+1228G=)
c.2914G= (p.Val972=)
c.2881G= (p.Val961=)
c.3094G= (p.Val1032=)
Xg.53235094C>GCA413142175IQSEC2c.3751G>C (p.Val1251Leu)
c.1453+689G>C
c.962+689G>C
c.316+1228G>C (n.316+1228G>C)
c.514+1228G>C (n.514+1228G>C)
c.*77G>C (n.*77G>C)
c.3592G>C (p.Val1198Leu)
c.3562G>C (p.Val1188Leu)
c.3688G>C (p.Val1230Leu)
c.2977G>C (p.Val993Leu)
c.3597+689G>C (n.3597+689G>C)
c.3547+1228G>C (n.3547+1228G>C)
c.2914G>C (p.Val972Leu)
c.2881G>C (p.Val961Leu)
c.3094G>C (p.Val1032Leu)
 dbSNP
Xg.53235094C>TCA413142173IQSEC2c.3751G>A (p.Val1251Ile)
c.1453+689G>A
c.962+689G>A
c.316+1228G>A (n.316+1228G>A)
c.514+1228G>A (n.514+1228G>A)
c.*77G>A (n.*77G>A)
c.3592G>A (p.Val1198Ile)
c.3562G>A (p.Val1188Ile)
c.3688G>A (p.Val1230Ile)
c.2977G>A (p.Val993Ile)
c.3597+689G>A (n.3597+689G>A)
c.3547+1228G>A (n.3547+1228G>A)
c.2914G>A (p.Val972Ile)
c.2881G>A (p.Val961Ile)
c.3094G>A (p.Val1032Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235095G>ACA329162210IQSEC2c.3750C>T (p.Pro1250=)
c.1453+688C>T
c.962+688C>T
c.316+1227C>T (n.316+1227C>T)
c.514+1227C>T (n.514+1227C>T)
c.*76C>T (n.*76C>T)
c.3591C>T (p.Pro1197=)
c.3561C>T (p.Pro1187=)
c.3687C>T (p.Pro1229=)
c.2976C>T (p.Pro992=)
c.3597+688C>T (n.3597+688C>T)
c.3547+1227C>T (n.3547+1227C>T)
c.2913C>T (p.Pro971=)
c.2880C>T (p.Pro960=)
c.3093C>T (p.Pro1031=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53235095G>CCA516673966IQSEC2c.3750C>G (p.Pro1250=)
c.1453+688C>G
c.962+688C>G
c.316+1227C>G (n.316+1227C>G)
c.514+1227C>G (n.514+1227C>G)
c.*76C>G (n.*76C>G)
c.3591C>G (p.Pro1197=)
c.3561C>G (p.Pro1187=)
c.3687C>G (p.Pro1229=)
c.2976C>G (p.Pro992=)
c.3597+688C>G (n.3597+688C>G)
c.3547+1227C>G (n.3547+1227C>G)
c.2913C>G (p.Pro971=)
c.2880C>G (p.Pro960=)
c.3093C>G (p.Pro1031=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235095G=CA2429770691IQSEC2c.3750C= (p.Pro1250=)
c.1453+688C=
c.962+688C=
c.316+1227C= (n.316+1227C=)
c.514+1227C= (n.514+1227C=)
c.*76C= (n.*76C=)
c.3591C= (p.Pro1197=)
c.3561C= (p.Pro1187=)
c.3687C= (p.Pro1229=)
c.2976C= (p.Pro992=)
c.3597+688C= (n.3597+688C=)
c.3547+1227C= (n.3547+1227C=)
c.2913C= (p.Pro971=)
c.2880C= (p.Pro960=)
c.3093C= (p.Pro1031=)
Xg.53235095G>TCA516673967IQSEC2c.3750C>A (p.Pro1250=)
c.1453+688C>A
c.962+688C>A
c.316+1227C>A (n.316+1227C>A)
c.514+1227C>A (n.514+1227C>A)
c.*76C>A (n.*76C>A)
c.3591C>A (p.Pro1197=)
c.3561C>A (p.Pro1187=)
c.3687C>A (p.Pro1229=)
c.2976C>A (p.Pro992=)
c.3597+688C>A (n.3597+688C>A)
c.3547+1227C>A (n.3547+1227C>A)
c.2913C>A (p.Pro971=)
c.2880C>A (p.Pro960=)
c.3093C>A (p.Pro1031=)
Xg.53235096G>ACA413142182IQSEC2c.3749C>T (p.Pro1250Leu)
c.1453+687C>T
c.962+687C>T
c.316+1226C>T (n.316+1226C>T)
c.514+1226C>T (n.514+1226C>T)
n.570C>T
c.*75C>T (n.*75C>T)
c.3590C>T (p.Pro1197Leu)
c.3560C>T (p.Pro1187Leu)
c.3686C>T (p.Pro1229Leu)
c.2975C>T (p.Pro992Leu)
c.3597+687C>T (n.3597+687C>T)
c.3547+1226C>T (n.3547+1226C>T)
c.2912C>T (p.Pro971Leu)
c.2879C>T (p.Pro960Leu)
c.3092C>T (p.Pro1031Leu)
Xg.53235096G>CCA413142185IQSEC2c.3749C>G (p.Pro1250Arg)
c.1453+687C>G
c.962+687C>G
c.316+1226C>G (n.316+1226C>G)
c.514+1226C>G (n.514+1226C>G)
n.570C>G
c.*75C>G (n.*75C>G)
c.3590C>G (p.Pro1197Arg)
c.3560C>G (p.Pro1187Arg)
c.3686C>G (p.Pro1229Arg)
c.2975C>G (p.Pro992Arg)
c.3597+687C>G (n.3597+687C>G)
c.3547+1226C>G (n.3547+1226C>G)
c.2912C>G (p.Pro971Arg)
c.2879C>G (p.Pro960Arg)
c.3092C>G (p.Pro1031Arg)
Xg.53235096G>TCA413142189IQSEC2c.3749C>A (p.Pro1250His)
c.1453+687C>A
c.962+687C>A
c.316+1226C>A (n.316+1226C>A)
c.514+1226C>A (n.514+1226C>A)
n.570C>A
c.*75C>A (n.*75C>A)
c.3590C>A (p.Pro1197His)
c.3560C>A (p.Pro1187His)
c.3686C>A (p.Pro1229His)
c.2975C>A (p.Pro992His)
c.3597+687C>A (n.3597+687C>A)
c.3547+1226C>A (n.3547+1226C>A)
c.2912C>A (p.Pro971His)
c.2879C>A (p.Pro960His)
c.3092C>A (p.Pro1031His)
Xg.53235097G>ACA413142192IQSEC2c.3748C>T (p.Pro1250Ser)
c.1453+686C>T
c.962+686C>T
c.316+1225C>T (n.316+1225C>T)
c.514+1225C>T (n.514+1225C>T)
n.569C>T
c.*74C>T (n.*74C>T)
c.3589C>T (p.Pro1197Ser)
c.3559C>T (p.Pro1187Ser)
c.3685C>T (p.Pro1229Ser)
c.2974C>T (p.Pro992Ser)
c.3597+686C>T (n.3597+686C>T)
c.3547+1225C>T (n.3547+1225C>T)
c.2911C>T (p.Pro971Ser)
c.2878C>T (p.Pro960Ser)
c.3091C>T (p.Pro1031Ser)
Xg.53235097G>CCA413142195IQSEC2c.3748C>G (p.Pro1250Ala)
c.1453+686C>G
c.962+686C>G
c.316+1225C>G (n.316+1225C>G)
c.514+1225C>G (n.514+1225C>G)
n.569C>G
c.*74C>G (n.*74C>G)
c.3589C>G (p.Pro1197Ala)
c.3559C>G (p.Pro1187Ala)
c.3685C>G (p.Pro1229Ala)
c.2974C>G (p.Pro992Ala)
c.3597+686C>G (n.3597+686C>G)
c.3547+1225C>G (n.3547+1225C>G)
c.2911C>G (p.Pro971Ala)
c.2878C>G (p.Pro960Ala)
c.3091C>G (p.Pro1031Ala)
 gnomAD v4
Xg.53235097G>TCA413142198IQSEC2c.3748C>A (p.Pro1250Thr)
c.1453+686C>A
c.962+686C>A
c.316+1225C>A (n.316+1225C>A)
c.514+1225C>A (n.514+1225C>A)
n.569C>A
c.*74C>A (n.*74C>A)
c.3589C>A (p.Pro1197Thr)
c.3559C>A (p.Pro1187Thr)
c.3685C>A (p.Pro1229Thr)
c.2974C>A (p.Pro992Thr)
c.3597+686C>A (n.3597+686C>A)
c.3547+1225C>A (n.3547+1225C>A)
c.2911C>A (p.Pro971Thr)
c.2878C>A (p.Pro960Thr)
c.3091C>A (p.Pro1031Thr)
 gnomAD v4
Xg.53235098_53235126delCA2693794361IQSEC2c.3720_3748del (p.Pro1241ArgfsTer?)
c.1453+658_1453+686del
c.962+658_962+686del
c.316+1197_316+1225del (n.316+1197_316+1225del)
c.514+1197_514+1225del (n.514+1197_514+1225del)
n.541_569del
c.*46_*74del (n.*46_*74del)
c.3561_3589del (p.Pro1188ArgfsTer?)
c.3531_3559del (p.Pro1178ArgfsTer?)
c.3657_3685del (p.Pro1220ArgfsTer?)
c.2946_2974del (p.Pro983ArgfsTer?)
c.3597+658_3597+686del (n.3597+658_3597+686del)
c.3547+1197_3547+1225del (n.3547+1197_3547+1225del)
c.2883_2911del (p.Pro962ArgfsTer?)
c.2850_2878del (p.Pro951ArgfsTer?)
c.3063_3091del (p.Pro1022ArgfsTer?)
 gnomAD v4
Xg.53235098C>ACA413142203IQSEC2c.3747G>T (p.Arg1249Ser)
c.1453+685G>T
c.962+685G>T
c.316+1224G>T (n.316+1224G>T)
c.514+1224G>T (n.514+1224G>T)
n.568G>T
c.*73G>T (n.*73G>T)
c.3588G>T (p.Arg1196Ser)
c.3558G>T (p.Arg1186Ser)
c.3684G>T (p.Arg1228Ser)
c.2973G>T (p.Arg991Ser)
c.3597+685G>T (n.3597+685G>T)
c.3547+1224G>T (n.3547+1224G>T)
c.2910G>T (p.Arg970Ser)
c.2877G>T (p.Arg959Ser)
c.3090G>T (p.Arg1030Ser)
Xg.53235098C>GCA413142206IQSEC2c.3747G>C (p.Arg1249Ser)
c.1453+685G>C
c.962+685G>C
c.316+1224G>C (n.316+1224G>C)
c.514+1224G>C (n.514+1224G>C)
n.568G>C
c.*73G>C (n.*73G>C)
c.3588G>C (p.Arg1196Ser)
c.3558G>C (p.Arg1186Ser)
c.3684G>C (p.Arg1228Ser)
c.2973G>C (p.Arg991Ser)
c.3597+685G>C (n.3597+685G>C)
c.3547+1224G>C (n.3547+1224G>C)
c.2910G>C (p.Arg970Ser)
c.2877G>C (p.Arg959Ser)
c.3090G>C (p.Arg1030Ser)
Xg.53235098C>TCA516673974IQSEC2c.3747G>A (p.Arg1249=)
c.1453+685G>A
c.962+685G>A
c.316+1224G>A (n.316+1224G>A)
c.514+1224G>A (n.514+1224G>A)
n.568G>A
c.*73G>A (n.*73G>A)
c.3588G>A (p.Arg1196=)
c.3558G>A (p.Arg1186=)
c.3684G>A (p.Arg1228=)
c.2973G>A (p.Arg991=)
c.3597+685G>A (n.3597+685G>A)
c.3547+1224G>A (n.3547+1224G>A)
c.2910G>A (p.Arg970=)
c.2877G>A (p.Arg959=)
c.3090G>A (p.Arg1030=)
Xg.53235098_53235119delCA2693794365IQSEC2c.3726_3747del (p.Glu1243ProfsTer?)
c.1453+664_1453+685del
c.962+664_962+685del
c.316+1203_316+1224del (n.316+1203_316+1224del)
c.514+1203_514+1224del (n.514+1203_514+1224del)
n.547_568del
c.*52_*73del (n.*52_*73del)
c.3567_3588del (p.Glu1190ProfsTer?)
c.3537_3558del (p.Glu1180ProfsTer?)
c.3663_3684del (p.Glu1222ProfsTer?)
c.2952_2973del (p.Glu985ProfsTer?)
c.3597+664_3597+685del (n.3597+664_3597+685del)
c.3547+1203_3547+1224del (n.3547+1203_3547+1224del)
c.2889_2910del (p.Glu964ProfsTer?)
c.2856_2877del (p.Glu953ProfsTer?)
c.3069_3090del (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235098_53235122delCA1133160106IQSEC2c.3723_3747del (p.Glu1243SerfsTer?)
c.1453+661_1453+685del
c.962+661_962+685del
c.316+1200_316+1224del (n.316+1200_316+1224del)
c.514+1200_514+1224del (n.514+1200_514+1224del)
n.544_568del
c.*49_*73del (n.*49_*73del)
c.3564_3588del (p.Glu1190SerfsTer?)
c.3534_3558del (p.Glu1180SerfsTer?)
c.3660_3684del (p.Glu1222SerfsTer?)
c.2949_2973del (p.Glu985SerfsTer?)
c.3597+661_3597+685del (n.3597+661_3597+685del)
c.3547+1200_3547+1224del (n.3547+1200_3547+1224del)
c.2886_2910del (p.Glu964SerfsTer?)
c.2853_2877del (p.Glu953SerfsTer?)
c.3066_3090del (p.Glu1024SerfsTer?)
 gnomAD v4
Xg.53235098_53235125delCA2693794370IQSEC2c.3720_3747del (p.Pro1242SerfsTer?)
c.1453+658_1453+685del
c.962+658_962+685del
c.316+1197_316+1224del (n.316+1197_316+1224del)
c.514+1197_514+1224del (n.514+1197_514+1224del)
n.541_568del
c.*46_*73del (n.*46_*73del)
c.3561_3588del (p.Pro1189SerfsTer?)
c.3531_3558del (p.Pro1179SerfsTer?)
c.3657_3684del (p.Pro1221SerfsTer?)
c.2946_2973del (p.Pro984SerfsTer?)
c.3597+658_3597+685del (n.3597+658_3597+685del)
c.3547+1197_3547+1224del (n.3547+1197_3547+1224del)
c.2883_2910del (p.Pro963SerfsTer?)
c.2850_2877del (p.Pro952SerfsTer?)
c.3063_3090del (p.Pro1023SerfsTer?)
 gnomAD v4
Xg.53235099C>ACA413142210IQSEC2c.3746G>T (p.Arg1249Met)
c.1453+684G>T
c.962+684G>T
c.316+1223G>T (n.316+1223G>T)
c.514+1223G>T (n.514+1223G>T)
n.567G>T
c.*72G>T (n.*72G>T)
c.3587G>T (p.Arg1196Met)
c.3557G>T (p.Arg1186Met)
c.3683G>T (p.Arg1228Met)
c.2972G>T (p.Arg991Met)
c.3597+684G>T (n.3597+684G>T)
c.3547+1223G>T (n.3547+1223G>T)
c.2909G>T (p.Arg970Met)
c.2876G>T (p.Arg959Met)
c.3089G>T (p.Arg1030Met)
 gnomAD v4
Xg.53235099C>GCA413142213IQSEC2c.3746G>C (p.Arg1249Thr)
c.1453+684G>C
c.962+684G>C
c.316+1223G>C (n.316+1223G>C)
c.514+1223G>C (n.514+1223G>C)
n.567G>C
c.*72G>C (n.*72G>C)
c.3587G>C (p.Arg1196Thr)
c.3557G>C (p.Arg1186Thr)
c.3683G>C (p.Arg1228Thr)
c.2972G>C (p.Arg991Thr)
c.3597+684G>C (n.3597+684G>C)
c.3547+1223G>C (n.3547+1223G>C)
c.2909G>C (p.Arg970Thr)
c.2876G>C (p.Arg959Thr)
c.3089G>C (p.Arg1030Thr)
Xg.53235099C>TCA413142217IQSEC2c.3746G>A (p.Arg1249Lys)
c.1453+684G>A
c.962+684G>A
c.316+1223G>A (n.316+1223G>A)
c.514+1223G>A (n.514+1223G>A)
n.567G>A
c.*72G>A (n.*72G>A)
c.3587G>A (p.Arg1196Lys)
c.3557G>A (p.Arg1186Lys)
c.3683G>A (p.Arg1228Lys)
c.2972G>A (p.Arg991Lys)
c.3597+684G>A (n.3597+684G>A)
c.3547+1223G>A (n.3547+1223G>A)
c.2909G>A (p.Arg970Lys)
c.2876G>A (p.Arg959Lys)
c.3089G>A (p.Arg1030Lys)
Xg.53235101_53235102delCA2579614735IQSEC2c.3745_3746del (p.Arg1249AlafsTer?)
c.1453+683_1453+684del
c.962+683_962+684del
c.316+1222_316+1223del (n.316+1222_316+1223del)
c.514+1222_514+1223del (n.514+1222_514+1223del)
n.566_567del
c.*71_*72del (n.*71_*72del)
c.3586_3587del (p.Arg1196AlafsTer?)
c.3556_3557del (p.Arg1186AlafsTer?)
c.3682_3683del (p.Arg1228AlafsTer?)
c.2971_2972del (p.Arg991AlafsTer?)
c.3597+683_3597+684del (n.3597+683_3597+684del)
c.3547+1222_3547+1223del (n.3547+1222_3547+1223del)
c.2908_2909del (p.Arg970AlafsTer?)
c.2875_2876del (p.Arg959AlafsTer?)
c.3088_3089del (p.Arg1030AlafsTer?)
Xg.53235100T>ACA413142222IQSEC2c.3745A>T (p.Arg1249Trp)
c.1453+683A>T
c.962+683A>T
c.316+1222A>T (n.316+1222A>T)
c.514+1222A>T (n.514+1222A>T)
n.566A>T
c.*71A>T (n.*71A>T)
c.3586A>T (p.Arg1196Trp)
c.3556A>T (p.Arg1186Trp)
c.3682A>T (p.Arg1228Trp)
c.2971A>T (p.Arg991Trp)
c.3597+683A>T (n.3597+683A>T)
c.3547+1222A>T (n.3547+1222A>T)
c.2908A>T (p.Arg970Trp)
c.2875A>T (p.Arg959Trp)
c.3088A>T (p.Arg1030Trp)
Xg.53235100T>CCA413142224IQSEC2c.3745A>G (p.Arg1249Gly)
c.1453+683A>G
c.962+683A>G
c.316+1222A>G (n.316+1222A>G)
c.514+1222A>G (n.514+1222A>G)
n.566A>G
c.*71A>G (n.*71A>G)
c.3586A>G (p.Arg1196Gly)
c.3556A>G (p.Arg1186Gly)
c.3682A>G (p.Arg1228Gly)
c.2971A>G (p.Arg991Gly)
c.3597+683A>G (n.3597+683A>G)
c.3547+1222A>G (n.3547+1222A>G)
c.2908A>G (p.Arg970Gly)
c.2875A>G (p.Arg959Gly)
c.3088A>G (p.Arg1030Gly)
Xg.53235100T>GCA516673978IQSEC2c.3745A>C (p.Arg1249=)
c.1453+683A>C
c.962+683A>C
c.316+1222A>C (n.316+1222A>C)
c.514+1222A>C (n.514+1222A>C)
n.566A>C
c.*71A>C (n.*71A>C)
c.3586A>C (p.Arg1196=)
c.3556A>C (p.Arg1186=)
c.3682A>C (p.Arg1228=)
c.2971A>C (p.Arg991=)
c.3597+683A>C (n.3597+683A>C)
c.3547+1222A>C (n.3547+1222A>C)
c.2908A>C (p.Arg970=)
c.2875A>C (p.Arg959=)
c.3088A>C (p.Arg1030=)
Xg.53235101C>ACA413142231IQSEC2c.3744G>T (p.Gln1248His)
c.1453+682G>T
c.962+682G>T
c.316+1221G>T (n.316+1221G>T)
c.514+1221G>T (n.514+1221G>T)
n.565G>T
c.*70G>T (n.*70G>T)
c.3585G>T (p.Gln1195His)
c.3555G>T (p.Gln1185His)
c.3681G>T (p.Gln1227His)
c.2970G>T (p.Gln990His)
c.3597+682G>T (n.3597+682G>T)
c.3547+1221G>T (n.3547+1221G>T)
c.2907G>T (p.Gln969His)
c.2874G>T (p.Gln958His)
c.3087G>T (p.Gln1029His)
Xg.53235101C>GCA413142228IQSEC2c.3744G>C (p.Gln1248His)
c.1453+682G>C
c.962+682G>C
c.316+1221G>C (n.316+1221G>C)
c.514+1221G>C (n.514+1221G>C)
n.565G>C
c.*70G>C (n.*70G>C)
c.3585G>C (p.Gln1195His)
c.3555G>C (p.Gln1185His)
c.3681G>C (p.Gln1227His)
c.2970G>C (p.Gln990His)
c.3597+682G>C (n.3597+682G>C)
c.3547+1221G>C (n.3547+1221G>C)
c.2907G>C (p.Gln969His)
c.2874G>C (p.Gln958His)
c.3087G>C (p.Gln1029His)
Xg.53235101C>TCA516673979IQSEC2c.3744G>A (p.Gln1248=)
c.1453+682G>A
c.962+682G>A
c.316+1221G>A (n.316+1221G>A)
c.514+1221G>A (n.514+1221G>A)
n.565G>A
c.*70G>A (n.*70G>A)
c.3585G>A (p.Gln1195=)
c.3555G>A (p.Gln1185=)
c.3681G>A (p.Gln1227=)
c.2970G>A (p.Gln990=)
c.3597+682G>A (n.3597+682G>A)
c.3547+1221G>A (n.3547+1221G>A)
c.2907G>A (p.Gln969=)
c.2874G>A (p.Gln958=)
c.3087G>A (p.Gln1029=)
Xg.53235102T>ACA413142233IQSEC2c.3743A>T (p.Gln1248Leu)
c.1453+681A>T
c.962+681A>T
c.316+1220A>T (n.316+1220A>T)
c.514+1220A>T (n.514+1220A>T)
n.564A>T
c.*69A>T (n.*69A>T)
c.3584A>T (p.Gln1195Leu)
c.3554A>T (p.Gln1185Leu)
c.3680A>T (p.Gln1227Leu)
c.2969A>T (p.Gln990Leu)
c.3597+681A>T (n.3597+681A>T)
c.3547+1220A>T (n.3547+1220A>T)
c.2906A>T (p.Gln969Leu)
c.2873A>T (p.Gln958Leu)
c.3086A>T (p.Gln1029Leu)
Xg.53235102T>CCA413142241IQSEC2c.3743A>G (p.Gln1248Arg)
c.1453+681A>G
c.962+681A>G
c.316+1220A>G (n.316+1220A>G)
c.514+1220A>G (n.514+1220A>G)
n.564A>G
c.*69A>G (n.*69A>G)
c.3584A>G (p.Gln1195Arg)
c.3554A>G (p.Gln1185Arg)
c.3680A>G (p.Gln1227Arg)
c.2969A>G (p.Gln990Arg)
c.3597+681A>G (n.3597+681A>G)
c.3547+1220A>G (n.3547+1220A>G)
c.2906A>G (p.Gln969Arg)
c.2873A>G (p.Gln958Arg)
c.3086A>G (p.Gln1029Arg)
Xg.53235102T>GCA413142238IQSEC2c.3743A>C (p.Gln1248Pro)
c.1453+681A>C
c.962+681A>C
c.316+1220A>C (n.316+1220A>C)
c.514+1220A>C (n.514+1220A>C)
n.564A>C
c.*69A>C (n.*69A>C)
c.3584A>C (p.Gln1195Pro)
c.3554A>C (p.Gln1185Pro)
c.3680A>C (p.Gln1227Pro)
c.2969A>C (p.Gln990Pro)
c.3597+681A>C (n.3597+681A>C)
c.3547+1220A>C (n.3547+1220A>C)
c.2906A>C (p.Gln969Pro)
c.2873A>C (p.Gln958Pro)
c.3086A>C (p.Gln1029Pro)
Xg.53235103G>ACA413142246IQSEC2c.3742C>T (p.Gln1248Ter)
c.1453+680C>T
c.962+680C>T
c.316+1219C>T (n.316+1219C>T)
c.514+1219C>T (n.514+1219C>T)
n.563C>T
c.*68C>T (n.*68C>T)
c.3583C>T (p.Gln1195Ter)
c.3553C>T (p.Gln1185Ter)
c.3679C>T (p.Gln1227Ter)
c.2968C>T (p.Gln990Ter)
c.3597+680C>T (n.3597+680C>T)
c.3547+1219C>T (n.3547+1219C>T)
c.2905C>T (p.Gln969Ter)
c.2872C>T (p.Gln958Ter)
c.3085C>T (p.Gln1029Ter)
Xg.53235103G>CCA413142251IQSEC2c.3742C>G (p.Gln1248Glu)
c.1453+680C>G
c.962+680C>G
c.316+1219C>G (n.316+1219C>G)
c.514+1219C>G (n.514+1219C>G)
n.563C>G
c.*68C>G (n.*68C>G)
c.3583C>G (p.Gln1195Glu)
c.3553C>G (p.Gln1185Glu)
c.3679C>G (p.Gln1227Glu)
c.2968C>G (p.Gln990Glu)
c.3597+680C>G (n.3597+680C>G)
c.3547+1219C>G (n.3547+1219C>G)
c.2905C>G (p.Gln969Glu)
c.2872C>G (p.Gln958Glu)
c.3085C>G (p.Gln1029Glu)
Xg.53235103G>TCA413142249IQSEC2c.3742C>A (p.Gln1248Lys)
c.1453+680C>A
c.962+680C>A
c.316+1219C>A (n.316+1219C>A)
c.514+1219C>A (n.514+1219C>A)
n.563C>A
c.*68C>A (n.*68C>A)
c.3583C>A (p.Gln1195Lys)
c.3553C>A (p.Gln1185Lys)
c.3679C>A (p.Gln1227Lys)
c.2968C>A (p.Gln990Lys)
c.3597+680C>A (n.3597+680C>A)
c.3547+1219C>A (n.3547+1219C>A)
c.2905C>A (p.Gln969Lys)
c.2872C>A (p.Gln958Lys)
c.3085C>A (p.Gln1029Lys)
Xg.53235104G>ACA516673986IQSEC2c.3741C>T (p.Ser1247=)
c.1453+679C>T
c.962+679C>T
c.316+1218C>T (n.316+1218C>T)
c.514+1218C>T (n.514+1218C>T)
n.562C>T
c.*67C>T (n.*67C>T)
c.3582C>T (p.Ser1194=)
c.3552C>T (p.Ser1184=)
c.3678C>T (p.Ser1226=)
c.2967C>T (p.Ser989=)
c.3597+679C>T (n.3597+679C>T)
c.3547+1218C>T (n.3547+1218C>T)
c.2904C>T (p.Ser968=)
c.2871C>T (p.Ser957=)
c.3084C>T (p.Ser1028=)
 gnomAD v4
Xg.53235104G>CCA413142253IQSEC2c.3741C>G (p.Ser1247Arg)
c.1453+679C>G
c.962+679C>G
c.316+1218C>G (n.316+1218C>G)
c.514+1218C>G (n.514+1218C>G)
n.562C>G
c.*67C>G (n.*67C>G)
c.3582C>G (p.Ser1194Arg)
c.3552C>G (p.Ser1184Arg)
c.3678C>G (p.Ser1226Arg)
c.2967C>G (p.Ser989Arg)
c.3597+679C>G (n.3597+679C>G)
c.3547+1218C>G (n.3547+1218C>G)
c.2904C>G (p.Ser968Arg)
c.2871C>G (p.Ser957Arg)
c.3084C>G (p.Ser1028Arg)
Xg.53235104G>TCA413142255IQSEC2c.3741C>A (p.Ser1247Arg)
c.1453+679C>A
c.962+679C>A
c.316+1218C>A (n.316+1218C>A)
c.514+1218C>A (n.514+1218C>A)
n.562C>A
c.*67C>A (n.*67C>A)
c.3582C>A (p.Ser1194Arg)
c.3552C>A (p.Ser1184Arg)
c.3678C>A (p.Ser1226Arg)
c.2967C>A (p.Ser989Arg)
c.3597+679C>A (n.3597+679C>A)
c.3547+1218C>A (n.3547+1218C>A)
c.2904C>A (p.Ser968Arg)
c.2871C>A (p.Ser957Arg)
c.3084C>A (p.Ser1028Arg)
Xg.53235105C>ACA413142259IQSEC2c.3740G>T (p.Ser1247Ile)
c.1453+678G>T
c.962+678G>T
c.316+1217G>T (n.316+1217G>T)
c.514+1217G>T (n.514+1217G>T)
n.561G>T
c.*66G>T (n.*66G>T)
c.3581G>T (p.Ser1194Ile)
c.3551G>T (p.Ser1184Ile)
c.3677G>T (p.Ser1226Ile)
c.2966G>T (p.Ser989Ile)
c.3597+678G>T (n.3597+678G>T)
c.3547+1217G>T (n.3547+1217G>T)
c.2903G>T (p.Ser968Ile)
c.2870G>T (p.Ser957Ile)
c.3083G>T (p.Ser1028Ile)
Xg.53235105C>GCA413142263IQSEC2c.3740G>C (p.Ser1247Thr)
c.1453+678G>C
c.962+678G>C
c.316+1217G>C (n.316+1217G>C)
c.514+1217G>C (n.514+1217G>C)
n.561G>C
c.*66G>C (n.*66G>C)
c.3581G>C (p.Ser1194Thr)
c.3551G>C (p.Ser1184Thr)
c.3677G>C (p.Ser1226Thr)
c.2966G>C (p.Ser989Thr)
c.3597+678G>C (n.3597+678G>C)
c.3547+1217G>C (n.3547+1217G>C)
c.2903G>C (p.Ser968Thr)
c.2870G>C (p.Ser957Thr)
c.3083G>C (p.Ser1028Thr)
 gnomAD v4
Xg.53235105C>TCA413142266IQSEC2c.3740G>A (p.Ser1247Asn)
c.1453+678G>A
c.962+678G>A
c.316+1217G>A (n.316+1217G>A)
c.514+1217G>A (n.514+1217G>A)
n.561G>A
c.*66G>A (n.*66G>A)
c.3581G>A (p.Ser1194Asn)
c.3551G>A (p.Ser1184Asn)
c.3677G>A (p.Ser1226Asn)
c.2966G>A (p.Ser989Asn)
c.3597+678G>A (n.3597+678G>A)
c.3547+1217G>A (n.3547+1217G>A)
c.2903G>A (p.Ser968Asn)
c.2870G>A (p.Ser957Asn)
c.3083G>A (p.Ser1028Asn)
 gnomAD v4
Xg.53235106T>ACA413142271IQSEC2c.3739A>T (p.Ser1247Cys)
c.1453+677A>T
c.962+677A>T
c.316+1216A>T (n.316+1216A>T)
c.514+1216A>T (n.514+1216A>T)
n.560A>T
c.*65A>T (n.*65A>T)
c.3580A>T (p.Ser1194Cys)
c.3550A>T (p.Ser1184Cys)
c.3676A>T (p.Ser1226Cys)
c.2965A>T (p.Ser989Cys)
c.3597+677A>T (n.3597+677A>T)
c.3547+1216A>T (n.3547+1216A>T)
c.2902A>T (p.Ser968Cys)
c.2869A>T (p.Ser957Cys)
c.3082A>T (p.Ser1028Cys)
Xg.53235106T>CCA413142274IQSEC2c.3739A>G (p.Ser1247Gly)
c.1453+677A>G
c.962+677A>G
c.316+1216A>G (n.316+1216A>G)
c.514+1216A>G (n.514+1216A>G)
n.560A>G
c.*65A>G (n.*65A>G)
c.3580A>G (p.Ser1194Gly)
c.3550A>G (p.Ser1184Gly)
c.3676A>G (p.Ser1226Gly)
c.2965A>G (p.Ser989Gly)
c.3597+677A>G (n.3597+677A>G)
c.3547+1216A>G (n.3547+1216A>G)
c.2902A>G (p.Ser968Gly)
c.2869A>G (p.Ser957Gly)
c.3082A>G (p.Ser1028Gly)
Xg.53235106T>GCA413142277IQSEC2c.3739A>C (p.Ser1247Arg)
c.1453+677A>C
c.962+677A>C
c.316+1216A>C (n.316+1216A>C)
c.514+1216A>C (n.514+1216A>C)
n.560A>C
c.*65A>C (n.*65A>C)
c.3580A>C (p.Ser1194Arg)
c.3550A>C (p.Ser1184Arg)
c.3676A>C (p.Ser1226Arg)
c.2965A>C (p.Ser989Arg)
c.3597+677A>C (n.3597+677A>C)
c.3547+1216A>C (n.3547+1216A>C)
c.2902A>C (p.Ser968Arg)
c.2869A>C (p.Ser957Arg)
c.3082A>C (p.Ser1028Arg)
Xg.53235107C>ACA413142279IQSEC2c.3738G>T (p.Lys1246Asn)
c.1453+676G>T
c.962+676G>T
c.316+1215G>T (n.316+1215G>T)
c.514+1215G>T (n.514+1215G>T)
n.559G>T
c.*64G>T (n.*64G>T)
c.3579G>T (p.Lys1193Asn)
c.3549G>T (p.Lys1183Asn)
c.3675G>T (p.Lys1225Asn)
c.2964G>T (p.Lys988Asn)
c.3597+676G>T (n.3597+676G>T)
c.3547+1215G>T (n.3547+1215G>T)
c.2901G>T (p.Lys967Asn)
c.2868G>T (p.Lys956Asn)
c.3081G>T (p.Lys1027Asn)
Xg.53235107C>GCA413142283IQSEC2c.3738G>C (p.Lys1246Asn)
c.1453+676G>C
c.962+676G>C
c.316+1215G>C (n.316+1215G>C)
c.514+1215G>C (n.514+1215G>C)
n.559G>C
c.*64G>C (n.*64G>C)
c.3579G>C (p.Lys1193Asn)
c.3549G>C (p.Lys1183Asn)
c.3675G>C (p.Lys1225Asn)
c.2964G>C (p.Lys988Asn)
c.3597+676G>C (n.3597+676G>C)
c.3547+1215G>C (n.3547+1215G>C)
c.2901G>C (p.Lys967Asn)
c.2868G>C (p.Lys956Asn)
c.3081G>C (p.Lys1027Asn)
Xg.53235107C>TCA516673991IQSEC2c.3738G>A (p.Lys1246=)
c.1453+676G>A
c.962+676G>A
c.316+1215G>A (n.316+1215G>A)
c.514+1215G>A (n.514+1215G>A)
n.559G>A
c.*64G>A (n.*64G>A)
c.3579G>A (p.Lys1193=)
c.3549G>A (p.Lys1183=)
c.3675G>A (p.Lys1225=)
c.2964G>A (p.Lys988=)
c.3597+676G>A (n.3597+676G>A)
c.3547+1215G>A (n.3547+1215G>A)
c.2901G>A (p.Lys967=)
c.2868G>A (p.Lys956=)
c.3081G>A (p.Lys1027=)
 gnomAD v4
Xg.53235108T>ACA413142288IQSEC2c.3737A>T (p.Lys1246Met)
c.1453+675A>T
c.962+675A>T
c.316+1214A>T (n.316+1214A>T)
c.514+1214A>T (n.514+1214A>T)
n.558A>T
c.*63A>T (n.*63A>T)
c.3578A>T (p.Lys1193Met)
c.3548A>T (p.Lys1183Met)
c.3674A>T (p.Lys1225Met)
c.2963A>T (p.Lys988Met)
c.3597+675A>T (n.3597+675A>T)
c.3547+1214A>T (n.3547+1214A>T)
c.2900A>T (p.Lys967Met)
c.2867A>T (p.Lys956Met)
c.3080A>T (p.Lys1027Met)
Xg.53235108T>CCA413142289IQSEC2c.3737A>G (p.Lys1246Arg)
c.1453+675A>G
c.962+675A>G
c.316+1214A>G (n.316+1214A>G)
c.514+1214A>G (n.514+1214A>G)
n.558A>G
c.*63A>G (n.*63A>G)
c.3578A>G (p.Lys1193Arg)
c.3548A>G (p.Lys1183Arg)
c.3674A>G (p.Lys1225Arg)
c.2963A>G (p.Lys988Arg)
c.3597+675A>G (n.3597+675A>G)
c.3547+1214A>G (n.3547+1214A>G)
c.2900A>G (p.Lys967Arg)
c.2867A>G (p.Lys956Arg)
c.3080A>G (p.Lys1027Arg)
Xg.53235108T>GCA413142292IQSEC2c.3737A>C (p.Lys1246Thr)
c.1453+675A>C
c.962+675A>C
c.316+1214A>C (n.316+1214A>C)
c.514+1214A>C (n.514+1214A>C)
n.558A>C
c.*63A>C (n.*63A>C)
c.3578A>C (p.Lys1193Thr)
c.3548A>C (p.Lys1183Thr)
c.3674A>C (p.Lys1225Thr)
c.2963A>C (p.Lys988Thr)
c.3597+675A>C (n.3597+675A>C)
c.3547+1214A>C (n.3547+1214A>C)
c.2900A>C (p.Lys967Thr)
c.2867A>C (p.Lys956Thr)
c.3080A>C (p.Lys1027Thr)
Xg.53235109T>ACA413142295IQSEC2c.3736A>T (p.Lys1246Ter)
c.1453+674A>T
c.962+674A>T
c.316+1213A>T (n.316+1213A>T)
c.514+1213A>T (n.514+1213A>T)
n.557A>T
c.*62A>T (n.*62A>T)
c.3577A>T (p.Lys1193Ter)
c.3547A>T (p.Lys1183Ter)
c.3673A>T (p.Lys1225Ter)
c.2962A>T (p.Lys988Ter)
c.3597+674A>T (n.3597+674A>T)
c.3547+1213A>T (n.3547+1213A>T)
c.2899A>T (p.Lys967Ter)
c.2866A>T (p.Lys956Ter)
c.3079A>T (p.Lys1027Ter)
Xg.53235109T>CCA413142299IQSEC2c.3736A>G (p.Lys1246Glu)
c.1453+674A>G
c.962+674A>G
c.316+1213A>G (n.316+1213A>G)
c.514+1213A>G (n.514+1213A>G)
n.557A>G
c.*62A>G (n.*62A>G)
c.3577A>G (p.Lys1193Glu)
c.3547A>G (p.Lys1183Glu)
c.3673A>G (p.Lys1225Glu)
c.2962A>G (p.Lys988Glu)
c.3597+674A>G (n.3597+674A>G)
c.3547+1213A>G (n.3547+1213A>G)
c.2899A>G (p.Lys967Glu)
c.2866A>G (p.Lys956Glu)
c.3079A>G (p.Lys1027Glu)
Xg.53235109T>GCA413142297IQSEC2c.3736A>C (p.Lys1246Gln)
c.1453+674A>C
c.962+674A>C
c.316+1213A>C (n.316+1213A>C)
c.514+1213A>C (n.514+1213A>C)
n.557A>C
c.*62A>C (n.*62A>C)
c.3577A>C (p.Lys1193Gln)
c.3547A>C (p.Lys1183Gln)
c.3673A>C (p.Lys1225Gln)
c.2962A>C (p.Lys988Gln)
c.3597+674A>C (n.3597+674A>C)
c.3547+1213A>C (n.3547+1213A>C)
c.2899A>C (p.Lys967Gln)
c.2866A>C (p.Lys956Gln)
c.3079A>C (p.Lys1027Gln)
Xg.53235110G>ACA516673996IQSEC2c.3735C>T (p.Tyr1245=)
c.1453+673C>T
c.962+673C>T
c.316+1212C>T (n.316+1212C>T)
c.514+1212C>T (n.514+1212C>T)
n.556C>T
c.*61C>T (n.*61C>T)
c.3576C>T (p.Tyr1192=)
c.3546C>T (p.Tyr1182=)
c.3672C>T (p.Tyr1224=)
c.2961C>T (p.Tyr987=)
c.3597+673C>T (n.3597+673C>T)
c.3547+1212C>T (n.3547+1212C>T)
c.2898C>T (p.Tyr966=)
c.2865C>T (p.Tyr955=)
c.3078C>T (p.Tyr1026=)
Xg.53235110G>CCA413142301IQSEC2c.3735C>G (p.Tyr1245Ter)
c.1453+673C>G
c.962+673C>G
c.316+1212C>G (n.316+1212C>G)
c.514+1212C>G (n.514+1212C>G)
n.556C>G
c.*61C>G (n.*61C>G)
c.3576C>G (p.Tyr1192Ter)
c.3546C>G (p.Tyr1182Ter)
c.3672C>G (p.Tyr1224Ter)
c.2961C>G (p.Tyr987Ter)
c.3597+673C>G (n.3597+673C>G)
c.3547+1212C>G (n.3547+1212C>G)
c.2898C>G (p.Tyr966Ter)
c.2865C>G (p.Tyr955Ter)
c.3078C>G (p.Tyr1026Ter)
Xg.53235110G>TCA413142304IQSEC2c.3735C>A (p.Tyr1245Ter)
c.1453+673C>A
c.962+673C>A
c.316+1212C>A (n.316+1212C>A)
c.514+1212C>A (n.514+1212C>A)
n.556C>A
c.*61C>A (n.*61C>A)
c.3576C>A (p.Tyr1192Ter)
c.3546C>A (p.Tyr1182Ter)
c.3672C>A (p.Tyr1224Ter)
c.2961C>A (p.Tyr987Ter)
c.3597+673C>A (n.3597+673C>A)
c.3547+1212C>A (n.3547+1212C>A)
c.2898C>A (p.Tyr966Ter)
c.2865C>A (p.Tyr955Ter)
c.3078C>A (p.Tyr1026Ter)
 gnomAD v4
Xg.53235111T>ACA413142308IQSEC2c.3734A>T (p.Tyr1245Phe)
c.1453+672A>T
c.962+672A>T
c.316+1211A>T (n.316+1211A>T)
c.514+1211A>T (n.514+1211A>T)
n.555A>T
c.*60A>T (n.*60A>T)
c.3575A>T (p.Tyr1192Phe)
c.3545A>T (p.Tyr1182Phe)
c.3671A>T (p.Tyr1224Phe)
c.2960A>T (p.Tyr987Phe)
c.3597+672A>T (n.3597+672A>T)
c.3547+1211A>T (n.3547+1211A>T)
c.2897A>T (p.Tyr966Phe)
c.2864A>T (p.Tyr955Phe)
c.3077A>T (p.Tyr1026Phe)
 gnomAD v4
Xg.53235111T>CCA413142311IQSEC2c.3734A>G (p.Tyr1245Cys)
c.1453+672A>G
c.962+672A>G
c.316+1211A>G (n.316+1211A>G)
c.514+1211A>G (n.514+1211A>G)
n.555A>G
c.*60A>G (n.*60A>G)
c.3575A>G (p.Tyr1192Cys)
c.3545A>G (p.Tyr1182Cys)
c.3671A>G (p.Tyr1224Cys)
c.2960A>G (p.Tyr987Cys)
c.3597+672A>G (n.3597+672A>G)
c.3547+1211A>G (n.3547+1211A>G)
c.2897A>G (p.Tyr966Cys)
c.2864A>G (p.Tyr955Cys)
c.3077A>G (p.Tyr1026Cys)
Xg.53235111T>GCA413142314IQSEC2c.3734A>C (p.Tyr1245Ser)
c.1453+672A>C
c.962+672A>C
c.316+1211A>C (n.316+1211A>C)
c.514+1211A>C (n.514+1211A>C)
n.555A>C
c.*60A>C (n.*60A>C)
c.3575A>C (p.Tyr1192Ser)
c.3545A>C (p.Tyr1182Ser)
c.3671A>C (p.Tyr1224Ser)
c.2960A>C (p.Tyr987Ser)
c.3597+672A>C (n.3597+672A>C)
c.3547+1211A>C (n.3547+1211A>C)
c.2897A>C (p.Tyr966Ser)
c.2864A>C (p.Tyr955Ser)
c.3077A>C (p.Tyr1026Ser)
Xg.53235112A=CA2429770692IQSEC2c.3733T= (p.Tyr1245=)
c.1453+671T=
c.962+671T=
c.316+1210T= (n.316+1210T=)
c.514+1210T= (n.514+1210T=)
n.554T=
c.*59T= (n.*59T=)
c.3574T= (p.Tyr1192=)
c.3544T= (p.Tyr1182=)
c.3670T= (p.Tyr1224=)
c.2959T= (p.Tyr987=)
c.3597+671T= (n.3597+671T=)
c.3547+1210T= (n.3547+1210T=)
c.2896T= (p.Tyr966=)
c.2863T= (p.Tyr955=)
c.3076T= (p.Tyr1026=)
Xg.53235112A>CCA413142325IQSEC2c.3733T>G (p.Tyr1245Asp)
c.1453+671T>G
c.962+671T>G
c.316+1210T>G (n.316+1210T>G)
c.514+1210T>G (n.514+1210T>G)
n.554T>G
c.*59T>G (n.*59T>G)
c.3574T>G (p.Tyr1192Asp)
c.3544T>G (p.Tyr1182Asp)
c.3670T>G (p.Tyr1224Asp)
c.2959T>G (p.Tyr987Asp)
c.3597+671T>G (n.3597+671T>G)
c.3547+1210T>G (n.3547+1210T>G)
c.2896T>G (p.Tyr966Asp)
c.2863T>G (p.Tyr955Asp)
c.3076T>G (p.Tyr1026Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235112A>GCA413142334IQSEC2c.3733T>C (p.Tyr1245His)
c.1453+671T>C
c.962+671T>C
c.316+1210T>C (n.316+1210T>C)
c.514+1210T>C (n.514+1210T>C)
n.554T>C
c.*59T>C (n.*59T>C)
c.3574T>C (p.Tyr1192His)
c.3544T>C (p.Tyr1182His)
c.3670T>C (p.Tyr1224His)
c.2959T>C (p.Tyr987His)
c.3597+671T>C (n.3597+671T>C)
c.3547+1210T>C (n.3547+1210T>C)
c.2896T>C (p.Tyr966His)
c.2863T>C (p.Tyr955His)
c.3076T>C (p.Tyr1026His)
Xg.53235112A>TCA413142338IQSEC2c.3733T>A (p.Tyr1245Asn)
c.1453+671T>A
c.962+671T>A
c.316+1210T>A (n.316+1210T>A)
c.514+1210T>A (n.514+1210T>A)
n.554T>A
c.*59T>A (n.*59T>A)
c.3574T>A (p.Tyr1192Asn)
c.3544T>A (p.Tyr1182Asn)
c.3670T>A (p.Tyr1224Asn)
c.2959T>A (p.Tyr987Asn)
c.3597+671T>A (n.3597+671T>A)
c.3547+1210T>A (n.3547+1210T>A)
c.2896T>A (p.Tyr966Asn)
c.2863T>A (p.Tyr955Asn)
c.3076T>A (p.Tyr1026Asn)
 dbSNP gnomAD v2
Xg.53235113C>ACA413142346IQSEC2c.3732G>T (p.Glu1244Asp)
c.1453+670G>T
c.962+670G>T
c.316+1209G>T (n.316+1209G>T)
c.514+1209G>T (n.514+1209G>T)
n.553G>T
c.*58G>T (n.*58G>T)
c.3573G>T (p.Glu1191Asp)
c.3543G>T (p.Glu1181Asp)
c.3669G>T (p.Glu1223Asp)
c.2958G>T (p.Glu986Asp)
c.3597+670G>T (n.3597+670G>T)
c.3547+1209G>T (n.3547+1209G>T)
c.2895G>T (p.Glu965Asp)
c.2862G>T (p.Glu954Asp)
c.3075G>T (p.Glu1025Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235113C=CA2429770693IQSEC2c.3732G= (p.Glu1244=)
c.1453+670G=
c.962+670G=
c.316+1209G= (n.316+1209G=)
c.514+1209G= (n.514+1209G=)
n.553G=
c.*58G= (n.*58G=)
c.3573G= (p.Glu1191=)
c.3543G= (p.Glu1181=)
c.3669G= (p.Glu1223=)
c.2958G= (p.Glu986=)
c.3597+670G= (n.3597+670G=)
c.3547+1209G= (n.3547+1209G=)
c.2895G= (p.Glu965=)
c.2862G= (p.Glu954=)
c.3075G= (p.Glu1025=)
Xg.53235113C>GCA413142348IQSEC2c.3732G>C (p.Glu1244Asp)
c.1453+670G>C
c.962+670G>C
c.316+1209G>C (n.316+1209G>C)
c.514+1209G>C (n.514+1209G>C)
n.553G>C
c.*58G>C (n.*58G>C)
c.3573G>C (p.Glu1191Asp)
c.3543G>C (p.Glu1181Asp)
c.3669G>C (p.Glu1223Asp)
c.2958G>C (p.Glu986Asp)
c.3597+670G>C (n.3597+670G>C)
c.3547+1209G>C (n.3547+1209G>C)
c.2895G>C (p.Glu965Asp)
c.2862G>C (p.Glu954Asp)
c.3075G>C (p.Glu1025Asp)
 gnomAD v4
Xg.53235113C>TCA516674001IQSEC2c.3732G>A (p.Glu1244=)
c.1453+670G>A
c.962+670G>A
c.316+1209G>A (n.316+1209G>A)
c.514+1209G>A (n.514+1209G>A)
n.553G>A
c.*58G>A (n.*58G>A)
c.3573G>A (p.Glu1191=)
c.3543G>A (p.Glu1181=)
c.3669G>A (p.Glu1223=)
c.2958G>A (p.Glu986=)
c.3597+670G>A (n.3597+670G>A)
c.3547+1209G>A (n.3547+1209G>A)
c.2895G>A (p.Glu965=)
c.2862G>A (p.Glu954=)
c.3075G>A (p.Glu1025=)
 ClinVar dbSNP gnomAD v4
Xg.53235114T>ACA413142354IQSEC2c.3731A>T (p.Glu1244Val)
c.1453+669A>T
c.962+669A>T
c.316+1208A>T (n.316+1208A>T)
c.514+1208A>T (n.514+1208A>T)
n.552A>T
c.*57A>T (n.*57A>T)
c.3572A>T (p.Glu1191Val)
c.3542A>T (p.Glu1181Val)
c.3668A>T (p.Glu1223Val)
c.2957A>T (p.Glu986Val)
c.3597+669A>T (n.3597+669A>T)
c.3547+1208A>T (n.3547+1208A>T)
c.2894A>T (p.Glu965Val)
c.2861A>T (p.Glu954Val)
c.3074A>T (p.Glu1025Val)
Xg.53235114T>CCA413142353IQSEC2c.3731A>G (p.Glu1244Gly)
c.1453+669A>G
c.962+669A>G
c.316+1208A>G (n.316+1208A>G)
c.514+1208A>G (n.514+1208A>G)
n.552A>G
c.*57A>G (n.*57A>G)
c.3572A>G (p.Glu1191Gly)
c.3542A>G (p.Glu1181Gly)
c.3668A>G (p.Glu1223Gly)
c.2957A>G (p.Glu986Gly)
c.3597+669A>G (n.3597+669A>G)
c.3547+1208A>G (n.3547+1208A>G)
c.2894A>G (p.Glu965Gly)
c.2861A>G (p.Glu954Gly)
c.3074A>G (p.Glu1025Gly)
 gnomAD v3 gnomAD v4
Xg.53235114T>GCA413142351IQSEC2c.3731A>C (p.Glu1244Ala)
c.1453+669A>C
c.962+669A>C
c.316+1208A>C (n.316+1208A>C)
c.514+1208A>C (n.514+1208A>C)
n.552A>C
c.*57A>C (n.*57A>C)
c.3572A>C (p.Glu1191Ala)
c.3542A>C (p.Glu1181Ala)
c.3668A>C (p.Glu1223Ala)
c.2957A>C (p.Glu986Ala)
c.3597+669A>C (n.3597+669A>C)
c.3547+1208A>C (n.3547+1208A>C)
c.2894A>C (p.Glu965Ala)
c.2861A>C (p.Glu954Ala)
c.3074A>C (p.Glu1025Ala)
 gnomAD v4
Xg.53235115C>ACA413142358IQSEC2c.3730G>T (p.Glu1244Ter)
c.1453+668G>T
c.962+668G>T
c.316+1207G>T (n.316+1207G>T)
c.514+1207G>T (n.514+1207G>T)
n.551G>T
c.*56G>T (n.*56G>T)
c.3571G>T (p.Glu1191Ter)
c.3541G>T (p.Glu1181Ter)
c.3667G>T (p.Glu1223Ter)
c.2956G>T (p.Glu986Ter)
c.3597+668G>T (n.3597+668G>T)
c.3547+1207G>T (n.3547+1207G>T)
c.2893G>T (p.Glu965Ter)
c.2860G>T (p.Glu954Ter)
c.3073G>T (p.Glu1025Ter)
Xg.53235115C>GCA413142356IQSEC2c.3730G>C (p.Glu1244Gln)
c.1453+668G>C
c.962+668G>C
c.316+1207G>C (n.316+1207G>C)
c.514+1207G>C (n.514+1207G>C)
n.551G>C
c.*56G>C (n.*56G>C)
c.3571G>C (p.Glu1191Gln)
c.3541G>C (p.Glu1181Gln)
c.3667G>C (p.Glu1223Gln)
c.2956G>C (p.Glu986Gln)
c.3597+668G>C (n.3597+668G>C)
c.3547+1207G>C (n.3547+1207G>C)
c.2893G>C (p.Glu965Gln)
c.2860G>C (p.Glu954Gln)
c.3073G>C (p.Glu1025Gln)
Xg.53235115C>TCA413142357IQSEC2c.3730G>A (p.Glu1244Lys)
c.1453+668G>A
c.962+668G>A
c.316+1207G>A (n.316+1207G>A)
c.514+1207G>A (n.514+1207G>A)
n.551G>A
c.*56G>A (n.*56G>A)
c.3571G>A (p.Glu1191Lys)
c.3541G>A (p.Glu1181Lys)
c.3667G>A (p.Glu1223Lys)
c.2956G>A (p.Glu986Lys)
c.3597+668G>A (n.3597+668G>A)
c.3547+1207G>A (n.3547+1207G>A)
c.2893G>A (p.Glu965Lys)
c.2860G>A (p.Glu954Lys)
c.3073G>A (p.Glu1025Lys)
Xg.53235116C>ACA413142361IQSEC2c.3729G>T (p.Glu1243Asp)
c.1453+667G>T
c.962+667G>T
c.316+1206G>T (n.316+1206G>T)
c.514+1206G>T (n.514+1206G>T)
n.550G>T
c.*55G>T (n.*55G>T)
c.3570G>T (p.Glu1190Asp)
c.3540G>T (p.Glu1180Asp)
c.3666G>T (p.Glu1222Asp)
c.2955G>T (p.Glu985Asp)
c.3597+667G>T (n.3597+667G>T)
c.3547+1206G>T (n.3547+1206G>T)
c.2892G>T (p.Glu964Asp)
c.2859G>T (p.Glu953Asp)
c.3072G>T (p.Glu1024Asp)
 gnomAD v4
Xg.53235116C>GCA413142362IQSEC2c.3729G>C (p.Glu1243Asp)
c.1453+667G>C
c.962+667G>C
c.316+1206G>C (n.316+1206G>C)
c.514+1206G>C (n.514+1206G>C)
n.550G>C
c.*55G>C (n.*55G>C)
c.3570G>C (p.Glu1190Asp)
c.3540G>C (p.Glu1180Asp)
c.3666G>C (p.Glu1222Asp)
c.2955G>C (p.Glu985Asp)
c.3597+667G>C (n.3597+667G>C)
c.3547+1206G>C (n.3547+1206G>C)
c.2892G>C (p.Glu964Asp)
c.2859G>C (p.Glu953Asp)
c.3072G>C (p.Glu1024Asp)
 gnomAD v4
Xg.53235116C>TCA516674007IQSEC2c.3729G>A (p.Glu1243=)
c.1453+667G>A
c.962+667G>A
c.316+1206G>A (n.316+1206G>A)
c.514+1206G>A (n.514+1206G>A)
n.550G>A
c.*55G>A (n.*55G>A)
c.3570G>A (p.Glu1190=)
c.3540G>A (p.Glu1180=)
c.3666G>A (p.Glu1222=)
c.2955G>A (p.Glu985=)
c.3597+667G>A (n.3597+667G>A)
c.3547+1206G>A (n.3547+1206G>A)
c.2892G>A (p.Glu964=)
c.2859G>A (p.Glu953=)
c.3072G>A (p.Glu1024=)
 ClinVar gnomAD v4
Xg.53235118_53235119delCA2693794405IQSEC2c.3728_3729del (p.Glu1243GlyfsTer?)
c.1453+666_1453+667del
c.962+666_962+667del
c.316+1205_316+1206del (n.316+1205_316+1206del)
c.514+1205_514+1206del (n.514+1205_514+1206del)
n.549_550del
c.*54_*55del (n.*54_*55del)
c.3569_3570del (p.Glu1190GlyfsTer?)
c.3539_3540del (p.Glu1180GlyfsTer?)
c.3665_3666del (p.Glu1222GlyfsTer?)
c.2954_2955del (p.Glu985GlyfsTer?)
c.3597+666_3597+667del (n.3597+666_3597+667del)
c.3547+1205_3547+1206del (n.3547+1205_3547+1206del)
c.2891_2892del (p.Glu964GlyfsTer?)
c.2858_2859del (p.Glu953GlyfsTer?)
c.3071_3072del (p.Glu1024GlyfsTer?)
 gnomAD v4
Xg.53235117T>ACA413142368IQSEC2c.3728A>T (p.Glu1243Val)
c.1453+666A>T
c.962+666A>T
c.316+1205A>T (n.316+1205A>T)
c.514+1205A>T (n.514+1205A>T)
n.549A>T
c.*54A>T (n.*54A>T)
c.3569A>T (p.Glu1190Val)
c.3539A>T (p.Glu1180Val)
c.3665A>T (p.Glu1222Val)
c.2954A>T (p.Glu985Val)
c.3597+666A>T (n.3597+666A>T)
c.3547+1205A>T (n.3547+1205A>T)
c.2891A>T (p.Glu964Val)
c.2858A>T (p.Glu953Val)
c.3071A>T (p.Glu1024Val)
Xg.53235117T>CCA413142370IQSEC2c.3728A>G (p.Glu1243Gly)
c.1453+666A>G
c.962+666A>G
c.316+1205A>G (n.316+1205A>G)
c.514+1205A>G (n.514+1205A>G)
n.549A>G
c.*54A>G (n.*54A>G)
c.3569A>G (p.Glu1190Gly)
c.3539A>G (p.Glu1180Gly)
c.3665A>G (p.Glu1222Gly)
c.2954A>G (p.Glu985Gly)
c.3597+666A>G (n.3597+666A>G)
c.3547+1205A>G (n.3547+1205A>G)
c.2891A>G (p.Glu964Gly)
c.2858A>G (p.Glu953Gly)
c.3071A>G (p.Glu1024Gly)
 gnomAD v4
Xg.53235117T>GCA413142373IQSEC2c.3728A>C (p.Glu1243Ala)
c.1453+666A>C
c.962+666A>C
c.316+1205A>C (n.316+1205A>C)
c.514+1205A>C (n.514+1205A>C)
n.549A>C
c.*54A>C (n.*54A>C)
c.3569A>C (p.Glu1190Ala)
c.3539A>C (p.Glu1180Ala)
c.3665A>C (p.Glu1222Ala)
c.2954A>C (p.Glu985Ala)
c.3597+666A>C (n.3597+666A>C)
c.3547+1205A>C (n.3547+1205A>C)
c.2891A>C (p.Glu964Ala)
c.2858A>C (p.Glu953Ala)
c.3071A>C (p.Glu1024Ala)
 gnomAD v3 gnomAD v4
Xg.53235118delCA2693794413IQSEC2c.3727del (p.Glu1243ArgfsTer?)
c.1453+665del
c.962+665del
c.316+1204del (n.316+1204del)
c.514+1204del (n.514+1204del)
n.548del
c.*53del (n.*53del)
c.3568del (p.Glu1190ArgfsTer?)
c.3538del (p.Glu1180ArgfsTer?)
c.3664del (p.Glu1222ArgfsTer?)
c.2953del (p.Glu985ArgfsTer?)
c.3597+665del (n.3597+665del)
c.3547+1204del (n.3547+1204del)
c.2890del (p.Glu964ArgfsTer?)
c.2857del (p.Glu953ArgfsTer?)
c.3070del (p.Glu1024ArgfsTer?)
 gnomAD v4
Xg.53235118C>ACA413142380IQSEC2c.3727G>T (p.Glu1243Ter)
c.1453+665G>T
c.962+665G>T
c.316+1204G>T (n.316+1204G>T)
c.514+1204G>T (n.514+1204G>T)
n.548G>T
c.*53G>T (n.*53G>T)
c.3568G>T (p.Glu1190Ter)
c.3538G>T (p.Glu1180Ter)
c.3664G>T (p.Glu1222Ter)
c.2953G>T (p.Glu985Ter)
c.3597+665G>T (n.3597+665G>T)
c.3547+1204G>T (n.3547+1204G>T)
c.2890G>T (p.Glu964Ter)
c.2857G>T (p.Glu953Ter)
c.3070G>T (p.Glu1024Ter)
 gnomAD v4
Xg.53235118C=CA2429770694IQSEC2c.3727G= (p.Glu1243=)
c.1453+665G=
c.962+665G=
c.316+1204G= (n.316+1204G=)
c.514+1204G= (n.514+1204G=)
n.548G=
c.*53G= (n.*53G=)
c.3568G= (p.Glu1190=)
c.3538G= (p.Glu1180=)
c.3664G= (p.Glu1222=)
c.2953G= (p.Glu985=)
c.3597+665G= (n.3597+665G=)
c.3547+1204G= (n.3547+1204G=)
c.2890G= (p.Glu964=)
c.2857G= (p.Glu953=)
c.3070G= (p.Glu1024=)
Xg.53235118C>GCA413142384IQSEC2c.3727G>C (p.Glu1243Gln)
c.1453+665G>C
c.962+665G>C
c.316+1204G>C (n.316+1204G>C)
c.514+1204G>C (n.514+1204G>C)
n.548G>C
c.*53G>C (n.*53G>C)
c.3568G>C (p.Glu1190Gln)
c.3538G>C (p.Glu1180Gln)
c.3664G>C (p.Glu1222Gln)
c.2953G>C (p.Glu985Gln)
c.3597+665G>C (n.3597+665G>C)
c.3547+1204G>C (n.3547+1204G>C)
c.2890G>C (p.Glu964Gln)
c.2857G>C (p.Glu953Gln)
c.3070G>C (p.Glu1024Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235118C>TCA413142388IQSEC2c.3727G>A (p.Glu1243Lys)
c.1453+665G>A
c.962+665G>A
c.316+1204G>A (n.316+1204G>A)
c.514+1204G>A (n.514+1204G>A)
n.548G>A
c.*53G>A (n.*53G>A)
c.3568G>A (p.Glu1190Lys)
c.3538G>A (p.Glu1180Lys)
c.3664G>A (p.Glu1222Lys)
c.2953G>A (p.Glu985Lys)
c.3597+665G>A (n.3597+665G>A)
c.3547+1204G>A (n.3547+1204G>A)
c.2890G>A (p.Glu964Lys)
c.2857G>A (p.Glu953Lys)
c.3070G>A (p.Glu1024Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235118_53235122delCA2693794416IQSEC2c.3723_3727del (p.Pro1242GlyfsTer?)
c.1453+661_1453+665del
c.962+661_962+665del
c.316+1200_316+1204del (n.316+1200_316+1204del)
c.514+1200_514+1204del (n.514+1200_514+1204del)
n.544_548del
c.*49_*53del (n.*49_*53del)
c.3564_3568del (p.Pro1189GlyfsTer?)
c.3534_3538del (p.Pro1179GlyfsTer?)
c.3660_3664del (p.Pro1221GlyfsTer?)
c.2949_2953del (p.Pro984GlyfsTer?)
c.3597+661_3597+665del (n.3597+661_3597+665del)
c.3547+1200_3547+1204del (n.3547+1200_3547+1204del)
c.2886_2890del (p.Pro963GlyfsTer?)
c.2853_2857del (p.Pro952GlyfsTer?)
c.3066_3070del (p.Pro1023GlyfsTer?)
 gnomAD v4
Xg.53235118_53235119insGGGCA2693794423IQSEC2c.3726_3727insCCC (p.Pro1242_Glu1243insPro)
c.1453+664_1453+665insCCC
c.962+664_962+665insCCC
c.316+1203_316+1204insCCC (n.316+1203_316+1204insCCC)
c.514+1203_514+1204insCCC (n.514+1203_514+1204insCCC)
n.547_548insCCC
c.*52_*53insCCC (n.*52_*53insCCC)
c.3567_3568insCCC (p.Pro1189_Glu1190insPro)
c.3537_3538insCCC (p.Pro1179_Glu1180insPro)
c.3663_3664insCCC (p.Pro1221_Glu1222insPro)
c.2952_2953insCCC (p.Pro984_Glu985insPro)
c.3597+664_3597+665insCCC (n.3597+664_3597+665insCCC)
c.3547+1203_3547+1204insCCC (n.3547+1203_3547+1204insCCC)
c.2889_2890insCCC (p.Pro963_Glu964insPro)
c.2856_2857insCCC (p.Pro952_Glu953insPro)
c.3069_3070insCCC (p.Pro1023_Glu1024insPro)
 gnomAD v4
Xg.53235119delCA2693794424IQSEC2c.3726del (p.Glu1243ArgfsTer?)
c.1453+664del
c.962+664del
c.316+1203del (n.316+1203del)
c.514+1203del (n.514+1203del)
n.547del
c.*52del (n.*52del)
c.3567del (p.Glu1190ArgfsTer?)
c.3537del (p.Glu1180ArgfsTer?)
c.3663del (p.Glu1222ArgfsTer?)
c.2952del (p.Glu985ArgfsTer?)
c.3597+664del (n.3597+664del)
c.3547+1203del (n.3547+1203del)
c.2889del (p.Glu964ArgfsTer?)
c.2856del (p.Glu953ArgfsTer?)
c.3069del (p.Glu1024ArgfsTer?)
 gnomAD v4
Xg.53235119T>ACA516674015IQSEC2c.3726A>T (p.Pro1242=)
c.1453+664A>T
c.962+664A>T
c.316+1203A>T (n.316+1203A>T)
c.514+1203A>T (n.514+1203A>T)
n.547A>T
c.*52A>T (n.*52A>T)
c.3567A>T (p.Pro1189=)
c.3537A>T (p.Pro1179=)
c.3663A>T (p.Pro1221=)
c.2952A>T (p.Pro984=)
c.3597+664A>T (n.3597+664A>T)
c.3547+1203A>T (n.3547+1203A>T)
c.2889A>T (p.Pro963=)
c.2856A>T (p.Pro952=)
c.3069A>T (p.Pro1023=)
 gnomAD v4
Xg.53235119T>CCA516674016IQSEC2c.3726A>G (p.Pro1242=)
c.1453+664A>G
c.962+664A>G
c.316+1203A>G (n.316+1203A>G)
c.514+1203A>G (n.514+1203A>G)
n.547A>G
c.*52A>G (n.*52A>G)
c.3567A>G (p.Pro1189=)
c.3537A>G (p.Pro1179=)
c.3663A>G (p.Pro1221=)
c.2952A>G (p.Pro984=)
c.3597+664A>G (n.3597+664A>G)
c.3547+1203A>G (n.3547+1203A>G)
c.2889A>G (p.Pro963=)
c.2856A>G (p.Pro952=)
c.3069A>G (p.Pro1023=)
 gnomAD v2 gnomAD v4
Xg.53235119T>GCA516674017IQSEC2c.3726A>C (p.Pro1242=)
c.1453+664A>C
c.962+664A>C
c.316+1203A>C (n.316+1203A>C)
c.514+1203A>C (n.514+1203A>C)
n.547A>C
c.*52A>C (n.*52A>C)
c.3567A>C (p.Pro1189=)
c.3537A>C (p.Pro1179=)
c.3663A>C (p.Pro1221=)
c.2952A>C (p.Pro984=)
c.3597+664A>C (n.3597+664A>C)
c.3547+1203A>C (n.3547+1203A>C)
c.2889A>C (p.Pro963=)
c.2856A>C (p.Pro952=)
c.3069A>C (p.Pro1023=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235119T=CA2429770695IQSEC2c.3726A= (p.Pro1242=)
c.1453+664A=
c.962+664A=
c.316+1203A= (n.316+1203A=)
c.514+1203A= (n.514+1203A=)
n.547A=
c.*52A= (n.*52A=)
c.3567A= (p.Pro1189=)
c.3537A= (p.Pro1179=)
c.3663A= (p.Pro1221=)
c.2952A= (p.Pro984=)
c.3597+664A= (n.3597+664A=)
c.3547+1203A= (n.3547+1203A=)
c.2889A= (p.Pro963=)
c.2856A= (p.Pro952=)
c.3069A= (p.Pro1023=)
Xg.53235119dupCA2820950220IQSEC2c.3726dup (p.Glu1243ArgfsTer?)
c.1453+664dup
c.962+664dup
c.316+1203dup (n.316+1203dup)
c.514+1203dup (n.514+1203dup)
n.547dup
c.*52dup (n.*52dup)
c.3567dup (p.Glu1190ArgfsTer?)
c.3537dup (p.Glu1180ArgfsTer?)
c.3663dup (p.Glu1222ArgfsTer?)
c.2952dup (p.Glu985ArgfsTer?)
c.3597+664dup (n.3597+664dup)
c.3547+1203dup (n.3547+1203dup)
c.2889dup (p.Glu964ArgfsTer?)
c.2856dup (p.Glu953ArgfsTer?)
c.3069dup (p.Glu1024ArgfsTer?)
Xg.53235122_53235133delCA2693794425IQSEC2c.3715_3726del (p.Pro1239_Pro1242del)
c.1453+653_1453+664del
c.962+653_962+664del
c.316+1192_316+1203del (n.316+1192_316+1203del)
c.514+1192_514+1203del (n.514+1192_514+1203del)
n.536_547del
c.*41_*52del (n.*41_*52del)
c.3556_3567del (p.Pro1186_Pro1189del)
c.3526_3537del (p.Pro1176_Pro1179del)
c.3652_3663del (p.Pro1218_Pro1221del)
c.2941_2952del (p.Pro981_Pro984del)
c.3597+653_3597+664del (n.3597+653_3597+664del)
c.3547+1192_3547+1203del (n.3547+1192_3547+1203del)
c.2878_2889del (p.Pro960_Pro963del)
c.2845_2856del (p.Pro949_Pro952del)
c.3058_3069del (p.Pro1020_Pro1023del)
 gnomAD v4
Xg.53235119_53235120insTGCA2429770696IQSEC2c.3725_3726insCA (p.Glu1243LysfsTer?)
c.1453+663_1453+664insCA
c.962+663_962+664insCA
c.316+1202_316+1203insCA (n.316+1202_316+1203insCA)
c.514+1202_514+1203insCA (n.514+1202_514+1203insCA)
n.546_547insCA
c.*51_*52insCA (n.*51_*52insCA)
c.3566_3567insCA (p.Glu1190LysfsTer?)
c.3536_3537insCA (p.Glu1180LysfsTer?)
c.3662_3663insCA (p.Glu1222LysfsTer?)
c.2951_2952insCA (p.Glu985LysfsTer?)
c.3597+663_3597+664insCA (n.3597+663_3597+664insCA)
c.3547+1202_3547+1203insCA (n.3547+1202_3547+1203insCA)
c.2888_2889insCA (p.Glu964LysfsTer?)
c.2855_2856insCA (p.Glu953LysfsTer?)
c.3068_3069insCA (p.Glu1024LysfsTer?)
 dbSNP
Xg.53235119_53235120insTGGCA2693794431IQSEC2c.3725_3726insCCA (p.Pro1242_Glu1243insGln)
c.1453+663_1453+664insCCA
c.962+663_962+664insCCA
c.316+1202_316+1203insCCA (n.316+1202_316+1203insCCA)
c.514+1202_514+1203insCCA (n.514+1202_514+1203insCCA)
n.546_547insCCA
c.*51_*52insCCA (n.*51_*52insCCA)
c.3566_3567insCCA (p.Pro1189_Glu1190insGln)
c.3536_3537insCCA (p.Pro1179_Glu1180insGln)
c.3662_3663insCCA (p.Pro1221_Glu1222insGln)
c.2951_2952insCCA (p.Pro984_Glu985insGln)
c.3597+663_3597+664insCCA (n.3597+663_3597+664insCCA)
c.3547+1202_3547+1203insCCA (n.3547+1202_3547+1203insCCA)
c.2888_2889insCCA (p.Pro963_Glu964insGln)
c.2855_2856insCCA (p.Pro952_Glu953insGln)
c.3068_3069insCCA (p.Pro1023_Glu1024insGln)
 gnomAD v4
Xg.53235119_53235120insTTGCA2693794436IQSEC2c.3725_3726insCAA (p.Pro1242_Glu1243insLys)
c.1453+663_1453+664insCAA
c.962+663_962+664insCAA
c.316+1202_316+1203insCAA (n.316+1202_316+1203insCAA)
c.514+1202_514+1203insCAA (n.514+1202_514+1203insCAA)
n.546_547insCAA
c.*51_*52insCAA (n.*51_*52insCAA)
c.3566_3567insCAA (p.Pro1189_Glu1190insLys)
c.3536_3537insCAA (p.Pro1179_Glu1180insLys)
c.3662_3663insCAA (p.Pro1221_Glu1222insLys)
c.2951_2952insCAA (p.Pro984_Glu985insLys)
c.3597+663_3597+664insCAA (n.3597+663_3597+664insCAA)
c.3547+1202_3547+1203insCAA (n.3547+1202_3547+1203insCAA)
c.2888_2889insCAA (p.Pro963_Glu964insLys)
c.2855_2856insCAA (p.Pro952_Glu953insLys)
c.3068_3069insCAA (p.Pro1023_Glu1024insLys)
 gnomAD v4
Xg.53235120G>ACA413142392IQSEC2c.3725C>T (p.Pro1242Leu)
c.1453+663C>T
c.962+663C>T
c.316+1202C>T (n.316+1202C>T)
c.514+1202C>T (n.514+1202C>T)
n.546C>T
c.*51C>T (n.*51C>T)
c.3566C>T (p.Pro1189Leu)
c.3536C>T (p.Pro1179Leu)
c.3662C>T (p.Pro1221Leu)
c.2951C>T (p.Pro984Leu)
c.3597+663C>T (n.3597+663C>T)
c.3547+1202C>T (n.3547+1202C>T)
c.2888C>T (p.Pro963Leu)
c.2855C>T (p.Pro952Leu)
c.3068C>T (p.Pro1023Leu)
Xg.53235120G>CCA413142397IQSEC2c.3725C>G (p.Pro1242Arg)
c.1453+663C>G
c.962+663C>G
c.316+1202C>G (n.316+1202C>G)
c.514+1202C>G (n.514+1202C>G)
n.546C>G
c.*51C>G (n.*51C>G)
c.3566C>G (p.Pro1189Arg)
c.3536C>G (p.Pro1179Arg)
c.3662C>G (p.Pro1221Arg)
c.2951C>G (p.Pro984Arg)
c.3597+663C>G (n.3597+663C>G)
c.3547+1202C>G (n.3547+1202C>G)
c.2888C>G (p.Pro963Arg)
c.2855C>G (p.Pro952Arg)
c.3068C>G (p.Pro1023Arg)
Xg.53235120G>TCA413142400IQSEC2c.3725C>A (p.Pro1242Gln)
c.1453+663C>A
c.962+663C>A
c.316+1202C>A (n.316+1202C>A)
c.514+1202C>A (n.514+1202C>A)
n.546C>A
c.*51C>A (n.*51C>A)
c.3566C>A (p.Pro1189Gln)
c.3536C>A (p.Pro1179Gln)
c.3662C>A (p.Pro1221Gln)
c.2951C>A (p.Pro984Gln)
c.3597+663C>A (n.3597+663C>A)
c.3547+1202C>A (n.3547+1202C>A)
c.2888C>A (p.Pro963Gln)
c.2855C>A (p.Pro952Gln)
c.3068C>A (p.Pro1023Gln)
 gnomAD v4
Xg.53235121_53235122insGGGCA641903966IQSEC2c.3725_3726insCCC (p.Pro1242_Glu1243insPro)
c.1453+663_1453+664insCCC
c.962+663_962+664insCCC
c.316+1202_316+1203insCCC (n.316+1202_316+1203insCCC)
c.514+1202_514+1203insCCC (n.514+1202_514+1203insCCC)
n.546_547insCCC
c.*51_*52insCCC (n.*51_*52insCCC)
c.3566_3567insCCC (p.Pro1189_Glu1190insPro)
c.3536_3537insCCC (p.Pro1179_Glu1180insPro)
c.3662_3663insCCC (p.Pro1221_Glu1222insPro)
c.2951_2952insCCC (p.Pro984_Glu985insPro)
c.3597+663_3597+664insCCC (n.3597+663_3597+664insCCC)
c.3547+1202_3547+1203insCCC (n.3547+1202_3547+1203insCCC)
c.2888_2889insCCC (p.Pro963_Glu964insPro)
c.2855_2856insCCC (p.Pro952_Glu953insPro)
c.3068_3069insCCC (p.Pro1023_Glu1024insPro)
 gnomAD v2 gnomAD v4
Xg.53235121_53235122insGGGGGCA2693794440IQSEC2c.3725_3726insCCCCC (p.Glu1243ProfsTer?)
c.1453+663_1453+664insCCCCC
c.962+663_962+664insCCCCC
c.316+1202_316+1203insCCCCC (n.316+1202_316+1203insCCCCC)
c.514+1202_514+1203insCCCCC (n.514+1202_514+1203insCCCCC)
n.546_547insCCCCC
c.*51_*52insCCCCC (n.*51_*52insCCCCC)
c.3566_3567insCCCCC (p.Glu1190ProfsTer?)
c.3536_3537insCCCCC (p.Glu1180ProfsTer?)
c.3662_3663insCCCCC (p.Glu1222ProfsTer?)
c.2951_2952insCCCCC (p.Glu985ProfsTer?)
c.3597+663_3597+664insCCCCC (n.3597+663_3597+664insCCCCC)
c.3547+1202_3547+1203insCCCCC (n.3547+1202_3547+1203insCCCCC)
c.2888_2889insCCCCC (p.Glu964ProfsTer?)
c.2855_2856insCCCCC (p.Glu953ProfsTer?)
c.3068_3069insCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235121_53235122insGGGGGGGGGGCA2693794439IQSEC2c.3725_3726insCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+663_1453+664insCCCCCCCCCC
c.962+663_962+664insCCCCCCCCCC
c.316+1202_316+1203insCCCCCCCCCC (n.316+1202_316+1203insCCCCCCCCCC)
c.514+1202_514+1203insCCCCCCCCCC (n.514+1202_514+1203insCCCCCCCCCC)
n.546_547insCCCCCCCCCC
c.*51_*52insCCCCCCCCCC (n.*51_*52insCCCCCCCCCC)
c.3566_3567insCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3536_3537insCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3662_3663insCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2951_2952insCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+663_3597+664insCCCCCCCCCC (n.3597+663_3597+664insCCCCCCCCCC)
c.3547+1202_3547+1203insCCCCCCCCCC (n.3547+1202_3547+1203insCCCCCCCCCC)
c.2888_2889insCCCCCCCCCC (p.Glu964ProfsTer?)
c.2855_2856insCCCCCCCCCC (p.Glu953ProfsTer?)
c.3068_3069insCCCCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235121_53235122insAGGAGGGGGGGGCA2693794443IQSEC2c.3725_3726insCCCCCCTCCTCC (p.Pro1242_Glu1243insProProProPro)
c.1453+663_1453+664insCCCCCCTCCTCC
c.962+663_962+664insCCCCCCTCCTCC
c.316+1202_316+1203insCCCCCCTCCTCC (n.316+1202_316+1203insCCCCCCTCCTCC)
c.514+1202_514+1203insCCCCCCTCCTCC (n.514+1202_514+1203insCCCCCCTCCTCC)
n.546_547insCCCCCCTCCTCC
c.*51_*52insCCCCCCTCCTCC (n.*51_*52insCCCCCCTCCTCC)
c.3566_3567insCCCCCCTCCTCC (p.Pro1189_Glu1190insProProProPro)
c.3536_3537insCCCCCCTCCTCC (p.Pro1179_Glu1180insProProProPro)
c.3662_3663insCCCCCCTCCTCC (p.Pro1221_Glu1222insProProProPro)
c.2951_2952insCCCCCCTCCTCC (p.Pro984_Glu985insProProProPro)
c.3597+663_3597+664insCCCCCCTCCTCC (n.3597+663_3597+664insCCCCCCTCCTCC)
c.3547+1202_3547+1203insCCCCCCTCCTCC (n.3547+1202_3547+1203insCCCCCCTCCTCC)
c.2888_2889insCCCCCCTCCTCC (p.Pro963_Glu964insProProProPro)
c.2855_2856insCCCCCCTCCTCC (p.Pro952_Glu953insProProProPro)
c.3068_3069insCCCCCCTCCTCC (p.Pro1023_Glu1024insProProProPro)
 gnomAD v4
Xg.53235121dupCA641903965IQSEC2c.3725dup (p.Glu1243ArgfsTer?)
c.1453+663dup
c.962+663dup
c.316+1202dup (n.316+1202dup)
c.514+1202dup (n.514+1202dup)
n.546dup
c.*51dup (n.*51dup)
c.3566dup (p.Glu1190ArgfsTer?)
c.3536dup (p.Glu1180ArgfsTer?)
c.3662dup (p.Glu1222ArgfsTer?)
c.2951dup (p.Glu985ArgfsTer?)
c.3597+663dup (n.3597+663dup)
c.3547+1202dup (n.3547+1202dup)
c.2888dup (p.Glu964ArgfsTer?)
c.2855dup (p.Glu953ArgfsTer?)
c.3068dup (p.Glu1024ArgfsTer?)
 gnomAD v2 gnomAD v4
Xg.53235120_53235121dupCA641903967IQSEC2c.3724_3725dup (p.Glu1243GlnfsTer?)
c.1453+662_1453+663dup
c.962+662_962+663dup
c.316+1201_316+1202dup (n.316+1201_316+1202dup)
c.514+1201_514+1202dup (n.514+1201_514+1202dup)
n.545_546dup
c.*50_*51dup (n.*50_*51dup)
c.3565_3566dup (p.Glu1190GlnfsTer?)
c.3535_3536dup (p.Glu1180GlnfsTer?)
c.3661_3662dup (p.Glu1222GlnfsTer?)
c.2950_2951dup (p.Glu985GlnfsTer?)
c.3597+662_3597+663dup (n.3597+662_3597+663dup)
c.3547+1201_3547+1202dup (n.3547+1201_3547+1202dup)
c.2887_2888dup (p.Glu964GlnfsTer?)
c.2854_2855dup (p.Glu953GlnfsTer?)
c.3067_3068dup (p.Glu1024GlnfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235125_53235139delCA2693794435IQSEC2c.3711_3725del (p.Pro1238_Pro1242del)
c.1453+649_1453+663del
c.962+649_962+663del
c.316+1188_316+1202del (n.316+1188_316+1202del)
c.514+1188_514+1202del (n.514+1188_514+1202del)
n.532_546del
c.*37_*51del (n.*37_*51del)
c.3552_3566del (p.Pro1185_Pro1189del)
c.3522_3536del (p.Pro1175_Pro1179del)
c.3648_3662del (p.Pro1217_Pro1221del)
c.2937_2951del (p.Pro980_Pro984del)
c.3597+649_3597+663del (n.3597+649_3597+663del)
c.3547+1188_3547+1202del (n.3547+1188_3547+1202del)
c.2874_2888del (p.Pro959_Pro963del)
c.2841_2855del (p.Pro948_Pro952del)
c.3054_3068del (p.Pro1019_Pro1023del)
 gnomAD v4
Xg.53235121G>ACA413142419IQSEC2c.3724C>T (p.Pro1242Ser)
c.1453+662C>T
c.962+662C>T
c.316+1201C>T (n.316+1201C>T)
c.514+1201C>T (n.514+1201C>T)
n.545C>T
c.*50C>T (n.*50C>T)
c.3565C>T (p.Pro1189Ser)
c.3535C>T (p.Pro1179Ser)
c.3661C>T (p.Pro1221Ser)
c.2950C>T (p.Pro984Ser)
c.3597+662C>T (n.3597+662C>T)
c.3547+1201C>T (n.3547+1201C>T)
c.2887C>T (p.Pro963Ser)
c.2854C>T (p.Pro952Ser)
c.3067C>T (p.Pro1023Ser)
Xg.53235121G>CCA413142412IQSEC2c.3724C>G (p.Pro1242Ala)
c.1453+662C>G
c.962+662C>G
c.316+1201C>G (n.316+1201C>G)
c.514+1201C>G (n.514+1201C>G)
n.545C>G
c.*50C>G (n.*50C>G)
c.3565C>G (p.Pro1189Ala)
c.3535C>G (p.Pro1179Ala)
c.3661C>G (p.Pro1221Ala)
c.2950C>G (p.Pro984Ala)
c.3597+662C>G (n.3597+662C>G)
c.3547+1201C>G (n.3547+1201C>G)
c.2887C>G (p.Pro963Ala)
c.2854C>G (p.Pro952Ala)
c.3067C>G (p.Pro1023Ala)
Xg.53235121G>TCA413142415IQSEC2c.3724C>A (p.Pro1242Thr)
c.1453+662C>A
c.962+662C>A
c.316+1201C>A (n.316+1201C>A)
c.514+1201C>A (n.514+1201C>A)
n.545C>A
c.*50C>A (n.*50C>A)
c.3565C>A (p.Pro1189Thr)
c.3535C>A (p.Pro1179Thr)
c.3661C>A (p.Pro1221Thr)
c.2950C>A (p.Pro984Thr)
c.3597+662C>A (n.3597+662C>A)
c.3547+1201C>A (n.3547+1201C>A)
c.2887C>A (p.Pro963Thr)
c.2854C>A (p.Pro952Thr)
c.3067C>A (p.Pro1023Thr)
Xg.53235121_53235122delinsGCCA2429770697IQSEC2c.3723_3724delinsGC (p.Pro1241=)
c.1453+661_1453+662delinsGC
c.962+661_962+662delinsGC
c.316+1200_316+1201delinsGC (n.316+1200_316+1201delinsGC)
c.514+1200_514+1201delinsGC (n.514+1200_514+1201delinsGC)
n.544_545delinsGC
c.*49_*50delinsGC (n.*49_*50delinsGC)
c.3564_3565delinsGC (p.Pro1188=)
c.3534_3535delinsGC (p.Pro1178=)
c.3660_3661delinsGC (p.Pro1220=)
c.2949_2950delinsGC (p.Pro983=)
c.3597+661_3597+662delinsGC (n.3597+661_3597+662delinsGC)
c.3547+1200_3547+1201delinsGC (n.3547+1200_3547+1201delinsGC)
c.2886_2887delinsGC (p.Pro962=)
c.2853_2854delinsGC (p.Pro951=)
c.3066_3067delinsGC (p.Pro1022=)
Xg.53235122delCA641903968IQSEC2c.3723del (p.Pro1242GlnfsTer?)
c.1453+661del
c.962+661del
c.316+1200del (n.316+1200del)
c.514+1200del (n.514+1200del)
n.544del
c.*49del (n.*49del)
c.3564del (p.Pro1189GlnfsTer?)
c.3534del (p.Pro1179GlnfsTer?)
c.3660del (p.Pro1221GlnfsTer?)
c.2949del (p.Pro984GlnfsTer?)
c.3597+661del (n.3597+661del)
c.3547+1200del (n.3547+1200del)
c.2886del (p.Pro963GlnfsTer?)
c.2853del (p.Pro952GlnfsTer?)
c.3066del (p.Pro1023GlnfsTer?)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235122C>ACA516674025IQSEC2c.3723G>T (p.Pro1241=)
c.1453+661G>T
c.962+661G>T
c.316+1200G>T (n.316+1200G>T)
c.514+1200G>T (n.514+1200G>T)
n.544G>T
c.*49G>T (n.*49G>T)
c.3564G>T (p.Pro1188=)
c.3534G>T (p.Pro1178=)
c.3660G>T (p.Pro1220=)
c.2949G>T (p.Pro983=)
c.3597+661G>T (n.3597+661G>T)
c.3547+1200G>T (n.3547+1200G>T)
c.2886G>T (p.Pro962=)
c.2853G>T (p.Pro951=)
c.3066G>T (p.Pro1022=)
 gnomAD v4
Xg.53235122C=CA2429770698IQSEC2c.3723G= (p.Pro1241=)
c.1453+661G=
c.962+661G=
c.316+1200G= (n.316+1200G=)
c.514+1200G= (n.514+1200G=)
n.544G=
c.*49G= (n.*49G=)
c.3564G= (p.Pro1188=)
c.3534G= (p.Pro1178=)
c.3660G= (p.Pro1220=)
c.2949G= (p.Pro983=)
c.3597+661G= (n.3597+661G=)
c.3547+1200G= (n.3547+1200G=)
c.2886G= (p.Pro962=)
c.2853G= (p.Pro951=)
c.3066G= (p.Pro1022=)
Xg.53235122C>GCA516674024IQSEC2c.3723G>C (p.Pro1241=)
c.1453+661G>C
c.962+661G>C
c.316+1200G>C (n.316+1200G>C)
c.514+1200G>C (n.514+1200G>C)
n.544G>C
c.*49G>C (n.*49G>C)
c.3564G>C (p.Pro1188=)
c.3534G>C (p.Pro1178=)
c.3660G>C (p.Pro1220=)
c.2949G>C (p.Pro983=)
c.3597+661G>C (n.3597+661G>C)
c.3547+1200G>C (n.3547+1200G>C)
c.2886G>C (p.Pro962=)
c.2853G>C (p.Pro951=)
c.3066G>C (p.Pro1022=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235122C>TCA516674023IQSEC2c.3723G>A (p.Pro1241=)
c.1453+661G>A
c.962+661G>A
c.316+1200G>A (n.316+1200G>A)
c.514+1200G>A (n.514+1200G>A)
n.544G>A
c.*49G>A (n.*49G>A)
c.3564G>A (p.Pro1188=)
c.3534G>A (p.Pro1178=)
c.3660G>A (p.Pro1220=)
c.2949G>A (p.Pro983=)
c.3597+661G>A (n.3597+661G>A)
c.3547+1200G>A (n.3547+1200G>A)
c.2886G>A (p.Pro962=)
c.2853G>A (p.Pro951=)
c.3066G>A (p.Pro1022=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235123G>ACA413142423IQSEC2c.3722C>T (p.Pro1241Leu)
c.1453+660C>T
c.962+660C>T
c.316+1199C>T (n.316+1199C>T)
c.514+1199C>T (n.514+1199C>T)
n.543C>T
c.*48C>T (n.*48C>T)
c.3563C>T (p.Pro1188Leu)
c.3533C>T (p.Pro1178Leu)
c.3659C>T (p.Pro1220Leu)
c.2948C>T (p.Pro983Leu)
c.3597+660C>T (n.3597+660C>T)
c.3547+1199C>T (n.3547+1199C>T)
c.2885C>T (p.Pro962Leu)
c.2852C>T (p.Pro951Leu)
c.3065C>T (p.Pro1022Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53235123G>CCA413142427IQSEC2c.3722C>G (p.Pro1241Arg)
c.1453+660C>G
c.962+660C>G
c.316+1199C>G (n.316+1199C>G)
c.514+1199C>G (n.514+1199C>G)
n.543C>G
c.*48C>G (n.*48C>G)
c.3563C>G (p.Pro1188Arg)
c.3533C>G (p.Pro1178Arg)
c.3659C>G (p.Pro1220Arg)
c.2948C>G (p.Pro983Arg)
c.3597+660C>G (n.3597+660C>G)
c.3547+1199C>G (n.3547+1199C>G)
c.2885C>G (p.Pro962Arg)
c.2852C>G (p.Pro951Arg)
c.3065C>G (p.Pro1022Arg)
Xg.53235123G=CA2429770699IQSEC2c.3722C= (p.Pro1241=)
c.1453+660C=
c.962+660C=
c.316+1199C= (n.316+1199C=)
c.514+1199C= (n.514+1199C=)
n.543C=
c.*48C= (n.*48C=)
c.3563C= (p.Pro1188=)
c.3533C= (p.Pro1178=)
c.3659C= (p.Pro1220=)
c.2948C= (p.Pro983=)
c.3597+660C= (n.3597+660C=)
c.3547+1199C= (n.3547+1199C=)
c.2885C= (p.Pro962=)
c.2852C= (p.Pro951=)
c.3065C= (p.Pro1022=)
Xg.53235123G>TCA413142428IQSEC2c.3722C>A (p.Pro1241Gln)
c.1453+660C>A
c.962+660C>A
c.316+1199C>A (n.316+1199C>A)
c.514+1199C>A (n.514+1199C>A)
n.543C>A
c.*48C>A (n.*48C>A)
c.3563C>A (p.Pro1188Gln)
c.3533C>A (p.Pro1178Gln)
c.3659C>A (p.Pro1220Gln)
c.2948C>A (p.Pro983Gln)
c.3597+660C>A (n.3597+660C>A)
c.3547+1199C>A (n.3547+1199C>A)
c.2885C>A (p.Pro962Gln)
c.2852C>A (p.Pro951Gln)
c.3065C>A (p.Pro1022Gln)
 gnomAD v4
Xg.53235124_53235125insGGGCA2693794480IQSEC2c.3722_3723insCCC (p.Pro1241_Pro1242insPro)
c.1453+660_1453+661insCCC
c.962+660_962+661insCCC
c.316+1199_316+1200insCCC (n.316+1199_316+1200insCCC)
c.514+1199_514+1200insCCC (n.514+1199_514+1200insCCC)
n.543_544insCCC
c.*48_*49insCCC (n.*48_*49insCCC)
c.3563_3564insCCC (p.Pro1188_Pro1189insPro)
c.3533_3534insCCC (p.Pro1178_Pro1179insPro)
c.3659_3660insCCC (p.Pro1220_Pro1221insPro)
c.2948_2949insCCC (p.Pro983_Pro984insPro)
c.3597+660_3597+661insCCC (n.3597+660_3597+661insCCC)
c.3547+1199_3547+1200insCCC (n.3547+1199_3547+1200insCCC)
c.2885_2886insCCC (p.Pro962_Pro963insPro)
c.2852_2853insCCC (p.Pro951_Pro952insPro)
c.3065_3066insCCC (p.Pro1022_Pro1023insPro)
 gnomAD v4
Xg.53235124_53235125insGGGGCA641903971IQSEC2c.3722_3723insCCCC (p.Glu1243AlafsTer?)
c.1453+660_1453+661insCCCC
c.962+660_962+661insCCCC
c.316+1199_316+1200insCCCC (n.316+1199_316+1200insCCCC)
c.514+1199_514+1200insCCCC (n.514+1199_514+1200insCCCC)
n.543_544insCCCC
c.*48_*49insCCCC (n.*48_*49insCCCC)
c.3563_3564insCCCC (p.Glu1190AlafsTer?)
c.3533_3534insCCCC (p.Glu1180AlafsTer?)
c.3659_3660insCCCC (p.Glu1222AlafsTer?)
c.2948_2949insCCCC (p.Glu985AlafsTer?)
c.3597+660_3597+661insCCCC (n.3597+660_3597+661insCCCC)
c.3547+1199_3547+1200insCCCC (n.3547+1199_3547+1200insCCCC)
c.2885_2886insCCCC (p.Glu964AlafsTer?)
c.2852_2853insCCCC (p.Glu953AlafsTer?)
c.3065_3066insCCCC (p.Glu1024AlafsTer?)
 gnomAD v2 gnomAD v4
Xg.53235124_53235125insGGGGGGCA641903972IQSEC2c.3722_3723insCCCCCC (p.Pro1241_Pro1242insProPro)
c.1453+660_1453+661insCCCCCC
c.962+660_962+661insCCCCCC
c.316+1199_316+1200insCCCCCC (n.316+1199_316+1200insCCCCCC)
c.514+1199_514+1200insCCCCCC (n.514+1199_514+1200insCCCCCC)
n.543_544insCCCCCC
c.*48_*49insCCCCCC (n.*48_*49insCCCCCC)
c.3563_3564insCCCCCC (p.Pro1188_Pro1189insProPro)
c.3533_3534insCCCCCC (p.Pro1178_Pro1179insProPro)
c.3659_3660insCCCCCC (p.Pro1220_Pro1221insProPro)
c.2948_2949insCCCCCC (p.Pro983_Pro984insProPro)
c.3597+660_3597+661insCCCCCC (n.3597+660_3597+661insCCCCCC)
c.3547+1199_3547+1200insCCCCCC (n.3547+1199_3547+1200insCCCCCC)
c.2885_2886insCCCCCC (p.Pro962_Pro963insProPro)
c.2852_2853insCCCCCC (p.Pro951_Pro952insProPro)
c.3065_3066insCCCCCC (p.Pro1022_Pro1023insProPro)
 gnomAD v2 gnomAD v4
Xg.53235124_53235125insGGGGGGGCA2693794476IQSEC2c.3722_3723insCCCCCCC (p.Glu1243ProfsTer?)
c.1453+660_1453+661insCCCCCCC
c.962+660_962+661insCCCCCCC
c.316+1199_316+1200insCCCCCCC (n.316+1199_316+1200insCCCCCCC)
c.514+1199_514+1200insCCCCCCC (n.514+1199_514+1200insCCCCCCC)
n.543_544insCCCCCCC
c.*48_*49insCCCCCCC (n.*48_*49insCCCCCCC)
c.3563_3564insCCCCCCC (p.Glu1190ProfsTer?)
c.3533_3534insCCCCCCC (p.Glu1180ProfsTer?)
c.3659_3660insCCCCCCC (p.Glu1222ProfsTer?)
c.2948_2949insCCCCCCC (p.Glu985ProfsTer?)
c.3597+660_3597+661insCCCCCCC (n.3597+660_3597+661insCCCCCCC)
c.3547+1199_3547+1200insCCCCCCC (n.3547+1199_3547+1200insCCCCCCC)
c.2885_2886insCCCCCCC (p.Glu964ProfsTer?)
c.2852_2853insCCCCCCC (p.Glu953ProfsTer?)
c.3065_3066insCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235124_53235125insGGGGGGGGGCA2693794474IQSEC2c.3722_3723insCCCCCCCCC (p.Pro1241_Pro1242insProProPro)
c.1453+660_1453+661insCCCCCCCCC
c.962+660_962+661insCCCCCCCCC
c.316+1199_316+1200insCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCC)
c.514+1199_514+1200insCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCC)
n.543_544insCCCCCCCCC
c.*48_*49insCCCCCCCCC (n.*48_*49insCCCCCCCCC)
c.3563_3564insCCCCCCCCC (p.Pro1188_Pro1189insProProPro)
c.3533_3534insCCCCCCCCC (p.Pro1178_Pro1179insProProPro)
c.3659_3660insCCCCCCCCC (p.Pro1220_Pro1221insProProPro)
c.2948_2949insCCCCCCCCC (p.Pro983_Pro984insProProPro)
c.3597+660_3597+661insCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCC)
c.3547+1199_3547+1200insCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCC)
c.2885_2886insCCCCCCCCC (p.Pro962_Pro963insProProPro)
c.2852_2853insCCCCCCCCC (p.Pro951_Pro952insProProPro)
c.3065_3066insCCCCCCCCC (p.Pro1022_Pro1023insProProPro)
 gnomAD v4
Xg.53235124_53235125insGGGGGGGGGGGGCA2693794471IQSEC2c.3722_3723insCCCCCCCCCCCC (p.Pro1241_Pro1242insProProProPro)
c.1453+660_1453+661insCCCCCCCCCCCC
c.962+660_962+661insCCCCCCCCCCCC
c.316+1199_316+1200insCCCCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCCCCC)
c.514+1199_514+1200insCCCCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCCCCC)
n.543_544insCCCCCCCCCCCC
c.*48_*49insCCCCCCCCCCCC (n.*48_*49insCCCCCCCCCCCC)
c.3563_3564insCCCCCCCCCCCC (p.Pro1188_Pro1189insProProProPro)
c.3533_3534insCCCCCCCCCCCC (p.Pro1178_Pro1179insProProProPro)
c.3659_3660insCCCCCCCCCCCC (p.Pro1220_Pro1221insProProProPro)
c.2948_2949insCCCCCCCCCCCC (p.Pro983_Pro984insProProProPro)
c.3597+660_3597+661insCCCCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCCCCC)
c.3547+1199_3547+1200insCCCCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCCCCC)
c.2885_2886insCCCCCCCCCCCC (p.Pro962_Pro963insProProProPro)
c.2852_2853insCCCCCCCCCCCC (p.Pro951_Pro952insProProProPro)
c.3065_3066insCCCCCCCCCCCC (p.Pro1022_Pro1023insProProProPro)
 gnomAD v4
Xg.53235124_53235125insGGGGGGGGGGGGGGGGGGGGGGGGGCA2693794464IQSEC2c.3722_3723insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+660_1453+661insCCCCCCCCCCCCCCCCCCCCCCCCC
c.962+660_962+661insCCCCCCCCCCCCCCCCCCCCCCCCC
c.316+1199_316+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.316+1199_316+1200insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.514+1199_514+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.514+1199_514+1200insCCCCCCCCCCCCCCCCCCCCCCCCC)
n.543_544insCCCCCCCCCCCCCCCCCCCCCCCCC
c.*48_*49insCCCCCCCCCCCCCCCCCCCCCCCCC (n.*48_*49insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.3563_3564insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3533_3534insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3659_3660insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2948_2949insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+660_3597+661insCCCCCCCCCCCCCCCCCCCCCCCCC (n.3597+660_3597+661insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.3547+1199_3547+1200insCCCCCCCCCCCCCCCCCCCCCCCCC (n.3547+1199_3547+1200insCCCCCCCCCCCCCCCCCCCCCCCCC)
c.2885_2886insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?)
c.2852_2853insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?)
c.3065_3066insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235126_53235127insTGGGGGGGGGCGCA2693794482IQSEC2c.3722_3723insCCCCCCCACGCC (p.Pro1241_Pro1242insProProThrPro)
c.1453+660_1453+661insCCCCCCCACGCC
c.962+660_962+661insCCCCCCCACGCC
c.316+1199_316+1200insCCCCCCCACGCC (n.316+1199_316+1200insCCCCCCCACGCC)
c.514+1199_514+1200insCCCCCCCACGCC (n.514+1199_514+1200insCCCCCCCACGCC)
n.543_544insCCCCCCCACGCC
c.*48_*49insCCCCCCCACGCC (n.*48_*49insCCCCCCCACGCC)
c.3563_3564insCCCCCCCACGCC (p.Pro1188_Pro1189insProProThrPro)
c.3533_3534insCCCCCCCACGCC (p.Pro1178_Pro1179insProProThrPro)
c.3659_3660insCCCCCCCACGCC (p.Pro1220_Pro1221insProProThrPro)
c.2948_2949insCCCCCCCACGCC (p.Pro983_Pro984insProProThrPro)
c.3597+660_3597+661insCCCCCCCACGCC (n.3597+660_3597+661insCCCCCCCACGCC)
c.3547+1199_3547+1200insCCCCCCCACGCC (n.3547+1199_3547+1200insCCCCCCCACGCC)
c.2885_2886insCCCCCCCACGCC (p.Pro962_Pro963insProProThrPro)
c.2852_2853insCCCCCCCACGCC (p.Pro951_Pro952insProProThrPro)
c.3065_3066insCCCCCCCACGCC (p.Pro1022_Pro1023insProProThrPro)
 gnomAD v4
Xg.53235130_53235131insGGGGGGCGGGGGCA641903970IQSEC2c.3722_3723insCCCCCCCCCGCC (p.Pro1241_Pro1242insProProProPro)
c.1453+660_1453+661insCCCCCCCCCGCC
c.962+660_962+661insCCCCCCCCCGCC
c.316+1199_316+1200insCCCCCCCCCGCC (n.316+1199_316+1200insCCCCCCCCCGCC)
c.514+1199_514+1200insCCCCCCCCCGCC (n.514+1199_514+1200insCCCCCCCCCGCC)
n.543_544insCCCCCCCCCGCC
c.*48_*49insCCCCCCCCCGCC (n.*48_*49insCCCCCCCCCGCC)
c.3563_3564insCCCCCCCCCGCC (p.Pro1188_Pro1189insProProProPro)
c.3533_3534insCCCCCCCCCGCC (p.Pro1178_Pro1179insProProProPro)
c.3659_3660insCCCCCCCCCGCC (p.Pro1220_Pro1221insProProProPro)
c.2948_2949insCCCCCCCCCGCC (p.Pro983_Pro984insProProProPro)
c.3597+660_3597+661insCCCCCCCCCGCC (n.3597+660_3597+661insCCCCCCCCCGCC)
c.3547+1199_3547+1200insCCCCCCCCCGCC (n.3547+1199_3547+1200insCCCCCCCCCGCC)
c.2885_2886insCCCCCCCCCGCC (p.Pro962_Pro963insProProProPro)
c.2852_2853insCCCCCCCCCGCC (p.Pro951_Pro952insProProProPro)
c.3065_3066insCCCCCCCCCGCC (p.Pro1022_Pro1023insProProProPro)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235130_53235131insGGGGGGGGGCGGGGGCA2820950238IQSEC2c.3722_3723insCCCCCCCCCCCCGCC (p.Pro1241_Pro1242insProProProProPro)
c.1453+660_1453+661insCCCCCCCCCCCCGCC
c.962+660_962+661insCCCCCCCCCCCCGCC
c.316+1199_316+1200insCCCCCCCCCCCCGCC (n.316+1199_316+1200insCCCCCCCCCCCCGCC)
c.514+1199_514+1200insCCCCCCCCCCCCGCC (n.514+1199_514+1200insCCCCCCCCCCCCGCC)
n.543_544insCCCCCCCCCCCCGCC
c.*48_*49insCCCCCCCCCCCCGCC (n.*48_*49insCCCCCCCCCCCCGCC)
c.3563_3564insCCCCCCCCCCCCGCC (p.Pro1188_Pro1189insProProProProPro)
c.3533_3534insCCCCCCCCCCCCGCC (p.Pro1178_Pro1179insProProProProPro)
c.3659_3660insCCCCCCCCCCCCGCC (p.Pro1220_Pro1221insProProProProPro)
c.2948_2949insCCCCCCCCCCCCGCC (p.Pro983_Pro984insProProProProPro)
c.3597+660_3597+661insCCCCCCCCCCCCGCC (n.3597+660_3597+661insCCCCCCCCCCCCGCC)
c.3547+1199_3547+1200insCCCCCCCCCCCCGCC (n.3547+1199_3547+1200insCCCCCCCCCCCCGCC)
c.2885_2886insCCCCCCCCCCCCGCC (p.Pro962_Pro963insProProProProPro)
c.2852_2853insCCCCCCCCCCCCGCC (p.Pro951_Pro952insProProProProPro)
c.3065_3066insCCCCCCCCCCCCGCC (p.Pro1022_Pro1023insProProProProPro)
Xg.53235125_53235130dupCA641903969IQSEC2c.3717_3722dup (p.Pro1241_Pro1242insProPro)
c.1453+655_1453+660dup
c.962+655_962+660dup
c.316+1194_316+1199dup (n.316+1194_316+1199dup)
c.514+1194_514+1199dup (n.514+1194_514+1199dup)
n.538_543dup
c.*43_*48dup (n.*43_*48dup)
c.3558_3563dup (p.Pro1188_Pro1189insProPro)
c.3528_3533dup (p.Pro1178_Pro1179insProPro)
c.3654_3659dup (p.Pro1220_Pro1221insProPro)
c.2943_2948dup (p.Pro983_Pro984insProPro)
c.3597+655_3597+660dup (n.3597+655_3597+660dup)
c.3547+1194_3547+1199dup (n.3547+1194_3547+1199dup)
c.2880_2885dup (p.Pro962_Pro963insProPro)
c.2847_2852dup (p.Pro951_Pro952insProPro)
c.3060_3065dup (p.Pro1022_Pro1023insProPro)
 gnomAD v2
Xg.53235128_53235139delCA2579614738IQSEC2c.3711_3722del (p.Pro1238_Pro1241del)
c.1453+649_1453+660del
c.962+649_962+660del
c.316+1188_316+1199del (n.316+1188_316+1199del)
c.514+1188_514+1199del (n.514+1188_514+1199del)
n.532_543del
c.*37_*48del (n.*37_*48del)
c.3552_3563del (p.Pro1185_Pro1188del)
c.3522_3533del (p.Pro1175_Pro1178del)
c.3648_3659del (p.Pro1217_Pro1220del)
c.2937_2948del (p.Pro980_Pro983del)
c.3597+649_3597+660del (n.3597+649_3597+660del)
c.3547+1188_3547+1199del (n.3547+1188_3547+1199del)
c.2874_2885del (p.Pro959_Pro962del)
c.2841_2852del (p.Pro948_Pro951del)
c.3054_3065del (p.Pro1019_Pro1022del)
 gnomAD v4
Xg.53235124G>ACA413142434IQSEC2c.3721C>T (p.Pro1241Ser)
c.1453+659C>T
c.962+659C>T
c.316+1198C>T (n.316+1198C>T)
c.514+1198C>T (n.514+1198C>T)
n.542C>T
c.*47C>T (n.*47C>T)
c.3562C>T (p.Pro1188Ser)
c.3532C>T (p.Pro1178Ser)
c.3658C>T (p.Pro1220Ser)
c.2947C>T (p.Pro983Ser)
c.3597+659C>T (n.3597+659C>T)
c.3547+1198C>T (n.3547+1198C>T)
c.2884C>T (p.Pro962Ser)
c.2851C>T (p.Pro951Ser)
c.3064C>T (p.Pro1022Ser)
 gnomAD v4
Xg.53235124G>CCA413142435IQSEC2c.3721C>G (p.Pro1241Ala)
c.1453+659C>G
c.962+659C>G
c.316+1198C>G (n.316+1198C>G)
c.514+1198C>G (n.514+1198C>G)
n.542C>G
c.*47C>G (n.*47C>G)
c.3562C>G (p.Pro1188Ala)
c.3532C>G (p.Pro1178Ala)
c.3658C>G (p.Pro1220Ala)
c.2947C>G (p.Pro983Ala)
c.3597+659C>G (n.3597+659C>G)
c.3547+1198C>G (n.3547+1198C>G)
c.2884C>G (p.Pro962Ala)
c.2851C>G (p.Pro951Ala)
c.3064C>G (p.Pro1022Ala)
Xg.53235124G>TCA413142440IQSEC2c.3721C>A (p.Pro1241Thr)
c.1453+659C>A
c.962+659C>A
c.316+1198C>A (n.316+1198C>A)
c.514+1198C>A (n.514+1198C>A)
n.542C>A
c.*47C>A (n.*47C>A)
c.3562C>A (p.Pro1188Thr)
c.3532C>A (p.Pro1178Thr)
c.3658C>A (p.Pro1220Thr)
c.2947C>A (p.Pro983Thr)
c.3597+659C>A (n.3597+659C>A)
c.3547+1198C>A (n.3547+1198C>A)
c.2884C>A (p.Pro962Thr)
c.2851C>A (p.Pro951Thr)
c.3064C>A (p.Pro1022Thr)
 gnomAD v4
Xg.53235124_53235125delinsGCCA2429770700IQSEC2c.3720_3721delinsGC (p.Pro1240=)
c.1453+658_1453+659delinsGC
c.962+658_962+659delinsGC
c.316+1197_316+1198delinsGC (n.316+1197_316+1198delinsGC)
c.514+1197_514+1198delinsGC (n.514+1197_514+1198delinsGC)
n.541_542delinsGC
c.*46_*47delinsGC (n.*46_*47delinsGC)
c.3561_3562delinsGC (p.Pro1187=)
c.3531_3532delinsGC (p.Pro1177=)
c.3657_3658delinsGC (p.Pro1219=)
c.2946_2947delinsGC (p.Pro982=)
c.3597+658_3597+659delinsGC (n.3597+658_3597+659delinsGC)
c.3547+1197_3547+1198delinsGC (n.3547+1197_3547+1198delinsGC)
c.2883_2884delinsGC (p.Pro961=)
c.2850_2851delinsGC (p.Pro950=)
c.3063_3064delinsGC (p.Pro1021=)
Xg.53235125delCA641903973IQSEC2c.3720del (p.Pro1241ArgfsTer?)
c.1453+658del
c.962+658del
c.316+1197del (n.316+1197del)
c.514+1197del (n.514+1197del)
n.541del
c.*46del (n.*46del)
c.3561del (p.Pro1188ArgfsTer?)
c.3531del (p.Pro1178ArgfsTer?)
c.3657del (p.Pro1220ArgfsTer?)
c.2946del (p.Pro983ArgfsTer?)
c.3597+658del (n.3597+658del)
c.3547+1197del (n.3547+1197del)
c.2883del (p.Pro962ArgfsTer?)
c.2850del (p.Pro951ArgfsTer?)
c.3063del (p.Pro1022ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235125C>ACA516674028IQSEC2c.3720G>T (p.Pro1240=)
c.1453+658G>T
c.962+658G>T
c.316+1197G>T (n.316+1197G>T)
c.514+1197G>T (n.514+1197G>T)
n.541G>T
c.*46G>T (n.*46G>T)
c.3561G>T (p.Pro1187=)
c.3531G>T (p.Pro1177=)
c.3657G>T (p.Pro1219=)
c.2946G>T (p.Pro982=)
c.3597+658G>T (n.3597+658G>T)
c.3547+1197G>T (n.3547+1197G>T)
c.2883G>T (p.Pro961=)
c.2850G>T (p.Pro950=)
c.3063G>T (p.Pro1021=)
 gnomAD v4
Xg.53235125C=CA2429770701IQSEC2c.3720G= (p.Pro1240=)
c.1453+658G=
c.962+658G=
c.316+1197G= (n.316+1197G=)
c.514+1197G= (n.514+1197G=)
n.541G=
c.*46G= (n.*46G=)
c.3561G= (p.Pro1187=)
c.3531G= (p.Pro1177=)
c.3657G= (p.Pro1219=)
c.2946G= (p.Pro982=)
c.3597+658G= (n.3597+658G=)
c.3547+1197G= (n.3547+1197G=)
c.2883G= (p.Pro961=)
c.2850G= (p.Pro950=)
c.3063G= (p.Pro1021=)
Xg.53235125C>GCA516674031IQSEC2c.3720G>C (p.Pro1240=)
c.1453+658G>C
c.962+658G>C
c.316+1197G>C (n.316+1197G>C)
c.514+1197G>C (n.514+1197G>C)
n.541G>C
c.*46G>C (n.*46G>C)
c.3561G>C (p.Pro1187=)
c.3531G>C (p.Pro1177=)
c.3657G>C (p.Pro1219=)
c.2946G>C (p.Pro982=)
c.3597+658G>C (n.3597+658G>C)
c.3547+1197G>C (n.3547+1197G>C)
c.2883G>C (p.Pro961=)
c.2850G>C (p.Pro950=)
c.3063G>C (p.Pro1021=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53235125C>TCA516674030IQSEC2c.3720G>A (p.Pro1240=)
c.1453+658G>A
c.962+658G>A
c.316+1197G>A (n.316+1197G>A)
c.514+1197G>A (n.514+1197G>A)
n.541G>A
c.*46G>A (n.*46G>A)
c.3561G>A (p.Pro1187=)
c.3531G>A (p.Pro1177=)
c.3657G>A (p.Pro1219=)
c.2946G>A (p.Pro982=)
c.3597+658G>A (n.3597+658G>A)
c.3547+1197G>A (n.3547+1197G>A)
c.2883G>A (p.Pro961=)
c.2850G>A (p.Pro950=)
c.3063G>A (p.Pro1021=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235125_53235126insTGGGGGGCA2693794519IQSEC2c.3719_3720insCCCCCCA (p.Glu1243AlafsTer?)
c.1453+657_1453+658insCCCCCCA
c.962+657_962+658insCCCCCCA
c.316+1196_316+1197insCCCCCCA (n.316+1196_316+1197insCCCCCCA)
c.514+1196_514+1197insCCCCCCA (n.514+1196_514+1197insCCCCCCA)
n.540_541insCCCCCCA
c.*45_*46insCCCCCCA (n.*45_*46insCCCCCCA)
c.3560_3561insCCCCCCA (p.Glu1190AlafsTer?)
c.3530_3531insCCCCCCA (p.Glu1180AlafsTer?)
c.3656_3657insCCCCCCA (p.Glu1222AlafsTer?)
c.2945_2946insCCCCCCA (p.Glu985AlafsTer?)
c.3597+657_3597+658insCCCCCCA (n.3597+657_3597+658insCCCCCCA)
c.3547+1196_3547+1197insCCCCCCA (n.3547+1196_3547+1197insCCCCCCA)
c.2882_2883insCCCCCCA (p.Glu964AlafsTer?)
c.2849_2850insCCCCCCA (p.Glu953AlafsTer?)
c.3062_3063insCCCCCCA (p.Glu1024AlafsTer?)
 gnomAD v4
Xg.53235126G>ACA413142442IQSEC2c.3719C>T (p.Pro1240Leu)
c.1453+657C>T
c.962+657C>T
c.316+1196C>T (n.316+1196C>T)
c.514+1196C>T (n.514+1196C>T)
n.540C>T
c.*45C>T (n.*45C>T)
c.3560C>T (p.Pro1187Leu)
c.3530C>T (p.Pro1177Leu)
c.3656C>T (p.Pro1219Leu)
c.2945C>T (p.Pro982Leu)
c.3597+657C>T (n.3597+657C>T)
c.3547+1196C>T (n.3547+1196C>T)
c.2882C>T (p.Pro961Leu)
c.2849C>T (p.Pro950Leu)
c.3062C>T (p.Pro1021Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53235126G>CCA413142444IQSEC2c.3719C>G (p.Pro1240Arg)
c.1453+657C>G
c.962+657C>G
c.316+1196C>G (n.316+1196C>G)
c.514+1196C>G (n.514+1196C>G)
n.540C>G
c.*45C>G (n.*45C>G)
c.3560C>G (p.Pro1187Arg)
c.3530C>G (p.Pro1177Arg)
c.3656C>G (p.Pro1219Arg)
c.2945C>G (p.Pro982Arg)
c.3597+657C>G (n.3597+657C>G)
c.3547+1196C>G (n.3547+1196C>G)
c.2882C>G (p.Pro961Arg)
c.2849C>G (p.Pro950Arg)
c.3062C>G (p.Pro1021Arg)
Xg.53235126G=CA2429770702IQSEC2c.3719C= (p.Pro1240=)
c.1453+657C=
c.962+657C=
c.316+1196C= (n.316+1196C=)
c.514+1196C= (n.514+1196C=)
n.540C=
c.*45C= (n.*45C=)
c.3560C= (p.Pro1187=)
c.3530C= (p.Pro1177=)
c.3656C= (p.Pro1219=)
c.2945C= (p.Pro982=)
c.3597+657C= (n.3597+657C=)
c.3547+1196C= (n.3547+1196C=)
c.2882C= (p.Pro961=)
c.2849C= (p.Pro950=)
c.3062C= (p.Pro1021=)
Xg.53235126G>TCA413142446IQSEC2c.3719C>A (p.Pro1240Gln)
c.1453+657C>A
c.962+657C>A
c.316+1196C>A (n.316+1196C>A)
c.514+1196C>A (n.514+1196C>A)
n.540C>A
c.*45C>A (n.*45C>A)
c.3560C>A (p.Pro1187Gln)
c.3530C>A (p.Pro1177Gln)
c.3656C>A (p.Pro1219Gln)
c.2945C>A (p.Pro982Gln)
c.3597+657C>A (n.3597+657C>A)
c.3547+1196C>A (n.3547+1196C>A)
c.2882C>A (p.Pro961Gln)
c.2849C>A (p.Pro950Gln)
c.3062C>A (p.Pro1021Gln)
 gnomAD v4
Xg.53235130_53235131insGGGGGGCA2693794526IQSEC2c.3719_3720insCCCCCC (p.Pro1240_Pro1241insProPro)
c.1453+657_1453+658insCCCCCC
c.962+657_962+658insCCCCCC
c.316+1196_316+1197insCCCCCC (n.316+1196_316+1197insCCCCCC)
c.514+1196_514+1197insCCCCCC (n.514+1196_514+1197insCCCCCC)
n.540_541insCCCCCC
c.*45_*46insCCCCCC (n.*45_*46insCCCCCC)
c.3560_3561insCCCCCC (p.Pro1187_Pro1188insProPro)
c.3530_3531insCCCCCC (p.Pro1177_Pro1178insProPro)
c.3656_3657insCCCCCC (p.Pro1219_Pro1220insProPro)
c.2945_2946insCCCCCC (p.Pro982_Pro983insProPro)
c.3597+657_3597+658insCCCCCC (n.3597+657_3597+658insCCCCCC)
c.3547+1196_3547+1197insCCCCCC (n.3547+1196_3547+1197insCCCCCC)
c.2882_2883insCCCCCC (p.Pro961_Pro962insProPro)
c.2849_2850insCCCCCC (p.Pro950_Pro951insProPro)
c.3062_3063insCCCCCC (p.Pro1021_Pro1022insProPro)
 gnomAD v4
Xg.53235130_53235131insGGGGGGGCA641903976IQSEC2c.3719_3720insCCCCCCC (p.Glu1243AlafsTer?)
c.1453+657_1453+658insCCCCCCC
c.962+657_962+658insCCCCCCC
c.316+1196_316+1197insCCCCCCC (n.316+1196_316+1197insCCCCCCC)
c.514+1196_514+1197insCCCCCCC (n.514+1196_514+1197insCCCCCCC)
n.540_541insCCCCCCC
c.*45_*46insCCCCCCC (n.*45_*46insCCCCCCC)
c.3560_3561insCCCCCCC (p.Glu1190AlafsTer?)
c.3530_3531insCCCCCCC (p.Glu1180AlafsTer?)
c.3656_3657insCCCCCCC (p.Glu1222AlafsTer?)
c.2945_2946insCCCCCCC (p.Glu985AlafsTer?)
c.3597+657_3597+658insCCCCCCC (n.3597+657_3597+658insCCCCCCC)
c.3547+1196_3547+1197insCCCCCCC (n.3547+1196_3547+1197insCCCCCCC)
c.2882_2883insCCCCCCC (p.Glu964AlafsTer?)
c.2849_2850insCCCCCCC (p.Glu953AlafsTer?)
c.3062_3063insCCCCCCC (p.Glu1024AlafsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235130_53235131insGGGGGGGGCA2693794523IQSEC2c.3719_3720insCCCCCCCC (p.Glu1243ArgfsTer?)
c.1453+657_1453+658insCCCCCCCC
c.962+657_962+658insCCCCCCCC
c.316+1196_316+1197insCCCCCCCC (n.316+1196_316+1197insCCCCCCCC)
c.514+1196_514+1197insCCCCCCCC (n.514+1196_514+1197insCCCCCCCC)
n.540_541insCCCCCCCC
c.*45_*46insCCCCCCCC (n.*45_*46insCCCCCCCC)
c.3560_3561insCCCCCCCC (p.Glu1190ArgfsTer?)
c.3530_3531insCCCCCCCC (p.Glu1180ArgfsTer?)
c.3656_3657insCCCCCCCC (p.Glu1222ArgfsTer?)
c.2945_2946insCCCCCCCC (p.Glu985ArgfsTer?)
c.3597+657_3597+658insCCCCCCCC (n.3597+657_3597+658insCCCCCCCC)
c.3547+1196_3547+1197insCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCC)
c.2882_2883insCCCCCCCC (p.Glu964ArgfsTer?)
c.2849_2850insCCCCCCCC (p.Glu953ArgfsTer?)
c.3062_3063insCCCCCCCC (p.Glu1024ArgfsTer?)
 gnomAD v4
Xg.53235130_53235131insCGGGGGGGGCA2693794528IQSEC2c.3719_3720insCCCGCCCCC (p.Pro1240_Pro1241insProProPro)
c.1453+657_1453+658insCCCGCCCCC
c.962+657_962+658insCCCGCCCCC
c.316+1196_316+1197insCCCGCCCCC (n.316+1196_316+1197insCCCGCCCCC)
c.514+1196_514+1197insCCCGCCCCC (n.514+1196_514+1197insCCCGCCCCC)
n.540_541insCCCGCCCCC
c.*45_*46insCCCGCCCCC (n.*45_*46insCCCGCCCCC)
c.3560_3561insCCCGCCCCC (p.Pro1187_Pro1188insProProPro)
c.3530_3531insCCCGCCCCC (p.Pro1177_Pro1178insProProPro)
c.3656_3657insCCCGCCCCC (p.Pro1219_Pro1220insProProPro)
c.2945_2946insCCCGCCCCC (p.Pro982_Pro983insProProPro)
c.3597+657_3597+658insCCCGCCCCC (n.3597+657_3597+658insCCCGCCCCC)
c.3547+1196_3547+1197insCCCGCCCCC (n.3547+1196_3547+1197insCCCGCCCCC)
c.2882_2883insCCCGCCCCC (p.Pro961_Pro962insProProPro)
c.2849_2850insCCCGCCCCC (p.Pro950_Pro951insProProPro)
c.3062_3063insCCCGCCCCC (p.Pro1021_Pro1022insProProPro)
 gnomAD v4
Xg.53235130_53235131insGGGGGGGGGCA641903975IQSEC2c.3719_3720insCCCCCCCCC (p.Pro1240_Pro1241insProProPro)
c.1453+657_1453+658insCCCCCCCCC
c.962+657_962+658insCCCCCCCCC
c.316+1196_316+1197insCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCC)
c.514+1196_514+1197insCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCC)
n.540_541insCCCCCCCCC
c.*45_*46insCCCCCCCCC (n.*45_*46insCCCCCCCCC)
c.3560_3561insCCCCCCCCC (p.Pro1187_Pro1188insProProPro)
c.3530_3531insCCCCCCCCC (p.Pro1177_Pro1178insProProPro)
c.3656_3657insCCCCCCCCC (p.Pro1219_Pro1220insProProPro)
c.2945_2946insCCCCCCCCC (p.Pro982_Pro983insProProPro)
c.3597+657_3597+658insCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCC)
c.3547+1196_3547+1197insCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCC)
c.2882_2883insCCCCCCCCC (p.Pro961_Pro962insProProPro)
c.2849_2850insCCCCCCCCC (p.Pro950_Pro951insProProPro)
c.3062_3063insCCCCCCCCC (p.Pro1021_Pro1022insProProPro)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235130_53235131insGGGGGGGGGGCA641903977IQSEC2c.3719_3720insCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+657_1453+658insCCCCCCCCCC
c.962+657_962+658insCCCCCCCCCC
c.316+1196_316+1197insCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCC)
c.514+1196_514+1197insCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCC)
n.540_541insCCCCCCCCCC
c.*45_*46insCCCCCCCCCC (n.*45_*46insCCCCCCCCCC)
c.3560_3561insCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3530_3531insCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3656_3657insCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2945_2946insCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+657_3597+658insCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCC)
c.3547+1196_3547+1197insCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCC)
c.2882_2883insCCCCCCCCCC (p.Glu964ProfsTer?)
c.2849_2850insCCCCCCCCCC (p.Glu953ProfsTer?)
c.3062_3063insCCCCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235130_53235131insGGGGGGGGGGGGCA1133160160IQSEC2c.3719_3720insCCCCCCCCCCCC (p.Pro1240_Pro1241insProProProPro)
c.1453+657_1453+658insCCCCCCCCCCCC
c.962+657_962+658insCCCCCCCCCCCC
c.316+1196_316+1197insCCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCC)
c.514+1196_514+1197insCCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCC)
n.540_541insCCCCCCCCCCCC
c.*45_*46insCCCCCCCCCCCC (n.*45_*46insCCCCCCCCCCCC)
c.3560_3561insCCCCCCCCCCCC (p.Pro1187_Pro1188insProProProPro)
c.3530_3531insCCCCCCCCCCCC (p.Pro1177_Pro1178insProProProPro)
c.3656_3657insCCCCCCCCCCCC (p.Pro1219_Pro1220insProProProPro)
c.2945_2946insCCCCCCCCCCCC (p.Pro982_Pro983insProProProPro)
c.3597+657_3597+658insCCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCC)
c.3547+1196_3547+1197insCCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCC)
c.2882_2883insCCCCCCCCCCCC (p.Pro961_Pro962insProProProPro)
c.2849_2850insCCCCCCCCCCCC (p.Pro950_Pro951insProProProPro)
c.3062_3063insCCCCCCCCCCCC (p.Pro1021_Pro1022insProProProPro)
 gnomAD v3 gnomAD v4
Xg.53235130_53235131insGGGTGGGGGGGGGGGCA2693794518IQSEC2c.3719_3720insCCCCCCACCCCCCCC (p.Pro1240_Pro1241insProProProProPro)
c.1453+657_1453+658insCCCCCCACCCCCCCC
c.962+657_962+658insCCCCCCACCCCCCCC
c.316+1196_316+1197insCCCCCCACCCCCCCC (n.316+1196_316+1197insCCCCCCACCCCCCCC)
c.514+1196_514+1197insCCCCCCACCCCCCCC (n.514+1196_514+1197insCCCCCCACCCCCCCC)
n.540_541insCCCCCCACCCCCCCC
c.*45_*46insCCCCCCACCCCCCCC (n.*45_*46insCCCCCCACCCCCCCC)
c.3560_3561insCCCCCCACCCCCCCC (p.Pro1187_Pro1188insProProProProPro)
c.3530_3531insCCCCCCACCCCCCCC (p.Pro1177_Pro1178insProProProProPro)
c.3656_3657insCCCCCCACCCCCCCC (p.Pro1219_Pro1220insProProProProPro)
c.2945_2946insCCCCCCACCCCCCCC (p.Pro982_Pro983insProProProProPro)
c.3597+657_3597+658insCCCCCCACCCCCCCC (n.3597+657_3597+658insCCCCCCACCCCCCCC)
c.3547+1196_3547+1197insCCCCCCACCCCCCCC (n.3547+1196_3547+1197insCCCCCCACCCCCCCC)
c.2882_2883insCCCCCCACCCCCCCC (p.Pro961_Pro962insProProProProPro)
c.2849_2850insCCCCCCACCCCCCCC (p.Pro950_Pro951insProProProProPro)
c.3062_3063insCCCCCCACCCCCCCC (p.Pro1021_Pro1022insProProProProPro)
 gnomAD v4
Xg.53235130_53235131insGGGGGCCGGGGGGGGGGGGGGGCA2820950254IQSEC2c.3719_3720insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+657_1453+658insCCCCCCCCCCGGCCCCCCCCCC
c.962+657_962+658insCCCCCCCCCCGGCCCCCCCCCC
c.316+1196_316+1197insCCCCCCCCCCGGCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCGGCCCCCCCCCC)
c.514+1196_514+1197insCCCCCCCCCCGGCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCGGCCCCCCCCCC)
n.540_541insCCCCCCCCCCGGCCCCCCCCCC
c.*45_*46insCCCCCCCCCCGGCCCCCCCCCC (n.*45_*46insCCCCCCCCCCGGCCCCCCCCCC)
c.3560_3561insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3530_3531insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3656_3657insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2945_2946insCCCCCCCCCCGGCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+657_3597+658insCCCCCCCCCCGGCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCGGCCCCCCCCCC)
c.3547+1196_3547+1197insCCCCCCCCCCGGCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCGGCCCCCCCCCC)
c.2882_2883insCCCCCCCCCCGGCCCCCCCCCC (p.Glu964ProfsTer?)
c.2849_2850insCCCCCCCCCCGGCCCCCCCCCC (p.Glu953ProfsTer?)
c.3062_3063insCCCCCCCCCCGGCCCCCCCCCC (p.Glu1024ProfsTer?)
Xg.53235130_53235131insGGGGGGGGGGGGGGGGGGGGGGCA2820950251IQSEC2c.3719_3720insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+657_1453+658insCCCCCCCCCCCCCCCCCCCCCC
c.962+657_962+658insCCCCCCCCCCCCCCCCCCCCCC
c.316+1196_316+1197insCCCCCCCCCCCCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCCCCCCCCCCCC)
c.514+1196_514+1197insCCCCCCCCCCCCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCCCCCCCCCCCC)
n.540_541insCCCCCCCCCCCCCCCCCCCCCC
c.*45_*46insCCCCCCCCCCCCCCCCCCCCCC (n.*45_*46insCCCCCCCCCCCCCCCCCCCCCC)
c.3560_3561insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3530_3531insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3656_3657insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2945_2946insCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+657_3597+658insCCCCCCCCCCCCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCCCCCCCCCCCC)
c.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCCCCCC)
c.2882_2883insCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?)
c.2849_2850insCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?)
c.3062_3063insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?)
Xg.53235130_53235131insGGGGGGCGAGGAGGGGGGGGGGGCA2820950253IQSEC2c.3719_3720insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+657_1453+658insCCCCCCTCCTCGCCCCCCCCCCC
c.962+657_962+658insCCCCCCTCCTCGCCCCCCCCCCC
c.316+1196_316+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.316+1196_316+1197insCCCCCCTCCTCGCCCCCCCCCCC)
c.514+1196_514+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.514+1196_514+1197insCCCCCCTCCTCGCCCCCCCCCCC)
n.540_541insCCCCCCTCCTCGCCCCCCCCCCC
c.*45_*46insCCCCCCTCCTCGCCCCCCCCCCC (n.*45_*46insCCCCCCTCCTCGCCCCCCCCCCC)
c.3560_3561insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3530_3531insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3656_3657insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2945_2946insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+657_3597+658insCCCCCCTCCTCGCCCCCCCCCCC (n.3597+657_3597+658insCCCCCCTCCTCGCCCCCCCCCCC)
c.3547+1196_3547+1197insCCCCCCTCCTCGCCCCCCCCCCC (n.3547+1196_3547+1197insCCCCCCTCCTCGCCCCCCCCCCC)
c.2882_2883insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu964ProfsTer?)
c.2849_2850insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu953ProfsTer?)
c.3062_3063insCCCCCCTCCTCGCCCCCCCCCCC (p.Glu1024ProfsTer?)
Xg.53235130_53235131insGCGGGGGGGGGGGGGGGGGGGGGGCA2693794525IQSEC2c.3719_3720insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1240_Pro1241insProProProProProArgProPro)
c.1453+657_1453+658insCCCCCCCCCCCCCCCCCGCCCCCC
c.962+657_962+658insCCCCCCCCCCCCCCCCCGCCCCCC
c.316+1196_316+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.316+1196_316+1197insCCCCCCCCCCCCCCCCCGCCCCCC)
c.514+1196_514+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.514+1196_514+1197insCCCCCCCCCCCCCCCCCGCCCCCC)
n.540_541insCCCCCCCCCCCCCCCCCGCCCCCC
c.*45_*46insCCCCCCCCCCCCCCCCCGCCCCCC (n.*45_*46insCCCCCCCCCCCCCCCCCGCCCCCC)
c.3560_3561insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1187_Pro1188insProProProProProArgProPro)
c.3530_3531insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1177_Pro1178insProProProProProArgProPro)
c.3656_3657insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1219_Pro1220insProProProProProArgProPro)
c.2945_2946insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro982_Pro983insProProProProProArgProPro)
c.3597+657_3597+658insCCCCCCCCCCCCCCCCCGCCCCCC (n.3597+657_3597+658insCCCCCCCCCCCCCCCCCGCCCCCC)
c.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCGCCCCCC (n.3547+1196_3547+1197insCCCCCCCCCCCCCCCCCGCCCCCC)
c.2882_2883insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro961_Pro962insProProProProProArgProPro)
c.2849_2850insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro950_Pro951insProProProProProArgProPro)
c.3062_3063insCCCCCCCCCCCCCCCCCGCCCCCC (p.Pro1021_Pro1022insProProProProProArgProPro)
 gnomAD v4
Xg.53235130dupCA2820950248IQSEC2c.3719dup (p.Pro1241AlafsTer?)
c.1453+657dup
c.962+657dup
c.316+1196dup (n.316+1196dup)
c.514+1196dup (n.514+1196dup)
n.540dup
c.*45dup (n.*45dup)
c.3560dup (p.Pro1188AlafsTer?)
c.3530dup (p.Pro1178AlafsTer?)
c.3656dup (p.Pro1220AlafsTer?)
c.2945dup (p.Pro983AlafsTer?)
c.3597+657dup (n.3597+657dup)
c.3547+1196dup (n.3547+1196dup)
c.2882dup (p.Pro962AlafsTer?)
c.2849dup (p.Pro951AlafsTer?)
c.3062dup (p.Pro1022AlafsTer?)
Xg.53235128_53235130dupCA641903974IQSEC2c.3717_3719dup (p.Pro1240_Pro1241insPro)
c.1453+655_1453+657dup
c.962+655_962+657dup
c.316+1194_316+1196dup (n.316+1194_316+1196dup)
c.514+1194_514+1196dup (n.514+1194_514+1196dup)
n.538_540dup
c.*43_*45dup (n.*43_*45dup)
c.3558_3560dup (p.Pro1187_Pro1188insPro)
c.3528_3530dup (p.Pro1177_Pro1178insPro)
c.3654_3656dup (p.Pro1219_Pro1220insPro)
c.2943_2945dup (p.Pro982_Pro983insPro)
c.3597+655_3597+657dup (n.3597+655_3597+657dup)
c.3547+1194_3547+1196dup (n.3547+1194_3547+1196dup)
c.2880_2882dup (p.Pro961_Pro962insPro)
c.2847_2849dup (p.Pro950_Pro951insPro)
c.3060_3062dup (p.Pro1021_Pro1022insPro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235127_53235130dupCA2693794532IQSEC2c.3716_3719dup (p.Pro1242AlafsTer?)
c.1453+654_1453+657dup
c.962+654_962+657dup
c.316+1193_316+1196dup (n.316+1193_316+1196dup)
c.514+1193_514+1196dup (n.514+1193_514+1196dup)
n.537_540dup
c.*42_*45dup (n.*42_*45dup)
c.3557_3560dup (p.Pro1189AlafsTer?)
c.3527_3530dup (p.Pro1179AlafsTer?)
c.3653_3656dup (p.Pro1221AlafsTer?)
c.2942_2945dup (p.Pro984AlafsTer?)
c.3597+654_3597+657dup (n.3597+654_3597+657dup)
c.3547+1193_3547+1196dup (n.3547+1193_3547+1196dup)
c.2879_2882dup (p.Pro963AlafsTer?)
c.2846_2849dup (p.Pro952AlafsTer?)
c.3059_3062dup (p.Pro1023AlafsTer?)
 gnomAD v4
Xg.53235126_53235130dupCA2693794530IQSEC2c.3715_3719dup (p.Pro1242ArgfsTer?)
c.1453+653_1453+657dup
c.962+653_962+657dup
c.316+1192_316+1196dup (n.316+1192_316+1196dup)
c.514+1192_514+1196dup (n.514+1192_514+1196dup)
n.536_540dup
c.*41_*45dup (n.*41_*45dup)
c.3556_3560dup (p.Pro1189ArgfsTer?)
c.3526_3530dup (p.Pro1179ArgfsTer?)
c.3652_3656dup (p.Pro1221ArgfsTer?)
c.2941_2945dup (p.Pro984ArgfsTer?)
c.3597+653_3597+657dup (n.3597+653_3597+657dup)
c.3547+1192_3547+1196dup (n.3547+1192_3547+1196dup)
c.2878_2882dup (p.Pro963ArgfsTer?)
c.2845_2849dup (p.Pro952ArgfsTer?)
c.3058_3062dup (p.Pro1023ArgfsTer?)
 gnomAD v4
Xg.53235130delCA2579614745IQSEC2c.3719del (p.Pro1240ArgfsTer?)
c.1453+657del
c.962+657del
c.316+1196del (n.316+1196del)
c.514+1196del (n.514+1196del)
n.540del
c.*45del (n.*45del)
c.3560del (p.Pro1187ArgfsTer?)
c.3530del (p.Pro1177ArgfsTer?)
c.3656del (p.Pro1219ArgfsTer?)
c.2945del (p.Pro982ArgfsTer?)
c.3597+657del (n.3597+657del)
c.3547+1196del (n.3547+1196del)
c.2882del (p.Pro961ArgfsTer?)
c.2849del (p.Pro950ArgfsTer?)
c.3062del (p.Pro1021ArgfsTer?)
 gnomAD v4
Xg.53235133_53235134insCAGCCTCTGGGGGGGGGGTGGCA2820950249IQSEC2c.3719_3720insCCCCCAGAGGCTGCCACCCCC (p.Pro1240_Pro1241insProGlnArgLeuProProPro)
c.1453+657_1453+658insCCCCCAGAGGCTGCCACCCCC
c.962+657_962+658insCCCCCAGAGGCTGCCACCCCC
c.316+1196_316+1197insCCCCCAGAGGCTGCCACCCCC (n.316+1196_316+1197insCCCCCAGAGGCTGCCACCCCC)
c.514+1196_514+1197insCCCCCAGAGGCTGCCACCCCC (n.514+1196_514+1197insCCCCCAGAGGCTGCCACCCCC)
n.540_541insCCCCCAGAGGCTGCCACCCCC
c.*45_*46insCCCCCAGAGGCTGCCACCCCC (n.*45_*46insCCCCCAGAGGCTGCCACCCCC)
c.3560_3561insCCCCCAGAGGCTGCCACCCCC (p.Pro1187_Pro1188insProGlnArgLeuProProPro)
c.3530_3531insCCCCCAGAGGCTGCCACCCCC (p.Pro1177_Pro1178insProGlnArgLeuProProPro)
c.3656_3657insCCCCCAGAGGCTGCCACCCCC (p.Pro1219_Pro1220insProGlnArgLeuProProPro)
c.2945_2946insCCCCCAGAGGCTGCCACCCCC (p.Pro982_Pro983insProGlnArgLeuProProPro)
c.3597+657_3597+658insCCCCCAGAGGCTGCCACCCCC (n.3597+657_3597+658insCCCCCAGAGGCTGCCACCCCC)
c.3547+1196_3547+1197insCCCCCAGAGGCTGCCACCCCC (n.3547+1196_3547+1197insCCCCCAGAGGCTGCCACCCCC)
c.2882_2883insCCCCCAGAGGCTGCCACCCCC (p.Pro961_Pro962insProGlnArgLeuProProPro)
c.2849_2850insCCCCCAGAGGCTGCCACCCCC (p.Pro950_Pro951insProGlnArgLeuProProPro)
c.3062_3063insCCCCCAGAGGCTGCCACCCCC (p.Pro1021_Pro1022insProGlnArgLeuProProPro)
Xg.53235136_53235137insGGGGGGTGGGGGCA920412496IQSEC2c.3719_3720insCCCCCCACCCCC (p.Pro1240_Pro1241insProProProPro)
c.1453+657_1453+658insCCCCCCACCCCC
c.962+657_962+658insCCCCCCACCCCC
c.316+1196_316+1197insCCCCCCACCCCC (n.316+1196_316+1197insCCCCCCACCCCC)
c.514+1196_514+1197insCCCCCCACCCCC (n.514+1196_514+1197insCCCCCCACCCCC)
n.540_541insCCCCCCACCCCC
c.*45_*46insCCCCCCACCCCC (n.*45_*46insCCCCCCACCCCC)
c.3560_3561insCCCCCCACCCCC (p.Pro1187_Pro1188insProProProPro)
c.3530_3531insCCCCCCACCCCC (p.Pro1177_Pro1178insProProProPro)
c.3656_3657insCCCCCCACCCCC (p.Pro1219_Pro1220insProProProPro)
c.2945_2946insCCCCCCACCCCC (p.Pro982_Pro983insProProProPro)
c.3597+657_3597+658insCCCCCCACCCCC (n.3597+657_3597+658insCCCCCCACCCCC)
c.3547+1196_3547+1197insCCCCCCACCCCC (n.3547+1196_3547+1197insCCCCCCACCCCC)
c.2882_2883insCCCCCCACCCCC (p.Pro961_Pro962insProProProPro)
c.2849_2850insCCCCCCACCCCC (p.Pro950_Pro951insProProProPro)
c.3062_3063insCCCCCCACCCCC (p.Pro1021_Pro1022insProProProPro)
 dbSNP gnomAD v4
Xg.53235131_53235136delCA2693794520IQSEC2c.3714_3719del (p.Pro1239_Pro1240del)
c.1453+652_1453+657del
c.962+652_962+657del
c.316+1191_316+1196del (n.316+1191_316+1196del)
c.514+1191_514+1196del (n.514+1191_514+1196del)
n.535_540del
c.*40_*45del (n.*40_*45del)
c.3555_3560del (p.Pro1186_Pro1187del)
c.3525_3530del (p.Pro1176_Pro1177del)
c.3651_3656del (p.Pro1218_Pro1219del)
c.2940_2945del (p.Pro981_Pro982del)
c.3597+652_3597+657del (n.3597+652_3597+657del)
c.3547+1191_3547+1196del (n.3547+1191_3547+1196del)
c.2877_2882del (p.Pro960_Pro961del)
c.2844_2849del (p.Pro949_Pro950del)
c.3057_3062del (p.Pro1020_Pro1021del)
 gnomAD v4
Xg.53235127G>ACA413142447IQSEC2c.3718C>T (p.Pro1240Ser)
c.1453+656C>T
c.962+656C>T
c.316+1195C>T (n.316+1195C>T)
c.514+1195C>T (n.514+1195C>T)
n.539C>T
c.*44C>T (n.*44C>T)
c.3559C>T (p.Pro1187Ser)
c.3529C>T (p.Pro1177Ser)
c.3655C>T (p.Pro1219Ser)
c.2944C>T (p.Pro982Ser)
c.3597+656C>T (n.3597+656C>T)
c.3547+1195C>T (n.3547+1195C>T)
c.2881C>T (p.Pro961Ser)
c.2848C>T (p.Pro950Ser)
c.3061C>T (p.Pro1021Ser)
 gnomAD v4
Xg.53235127G>CCA413142448IQSEC2c.3718C>G (p.Pro1240Ala)
c.1453+656C>G
c.962+656C>G
c.316+1195C>G (n.316+1195C>G)
c.514+1195C>G (n.514+1195C>G)
n.539C>G
c.*44C>G (n.*44C>G)
c.3559C>G (p.Pro1187Ala)
c.3529C>G (p.Pro1177Ala)
c.3655C>G (p.Pro1219Ala)
c.2944C>G (p.Pro982Ala)
c.3597+656C>G (n.3597+656C>G)
c.3547+1195C>G (n.3547+1195C>G)
c.2881C>G (p.Pro961Ala)
c.2848C>G (p.Pro950Ala)
c.3061C>G (p.Pro1021Ala)
Xg.53235127G>TCA413142450IQSEC2c.3718C>A (p.Pro1240Thr)
c.1453+656C>A
c.962+656C>A
c.316+1195C>A (n.316+1195C>A)
c.514+1195C>A (n.514+1195C>A)
n.539C>A
c.*44C>A (n.*44C>A)
c.3559C>A (p.Pro1187Thr)
c.3529C>A (p.Pro1177Thr)
c.3655C>A (p.Pro1219Thr)
c.2944C>A (p.Pro982Thr)
c.3597+656C>A (n.3597+656C>A)
c.3547+1195C>A (n.3547+1195C>A)
c.2881C>A (p.Pro961Thr)
c.2848C>A (p.Pro950Thr)
c.3061C>A (p.Pro1021Thr)
 gnomAD v4
Xg.53235128G>ACA516674037IQSEC2c.3717C>T (p.Pro1239=)
c.1453+655C>T
c.962+655C>T
c.316+1194C>T (n.316+1194C>T)
c.514+1194C>T (n.514+1194C>T)
n.538C>T
c.*43C>T (n.*43C>T)
c.3558C>T (p.Pro1186=)
c.3528C>T (p.Pro1176=)
c.3654C>T (p.Pro1218=)
c.2943C>T (p.Pro981=)
c.3597+655C>T (n.3597+655C>T)
c.3547+1194C>T (n.3547+1194C>T)
c.2880C>T (p.Pro960=)
c.2847C>T (p.Pro949=)
c.3060C>T (p.Pro1020=)
 gnomAD v4
Xg.53235128G>CCA516674035IQSEC2c.3717C>G (p.Pro1239=)
c.1453+655C>G
c.962+655C>G
c.316+1194C>G (n.316+1194C>G)
c.514+1194C>G (n.514+1194C>G)
n.538C>G
c.*43C>G (n.*43C>G)
c.3558C>G (p.Pro1186=)
c.3528C>G (p.Pro1176=)
c.3654C>G (p.Pro1218=)
c.2943C>G (p.Pro981=)
c.3597+655C>G (n.3597+655C>G)
c.3547+1194C>G (n.3547+1194C>G)
c.2880C>G (p.Pro960=)
c.2847C>G (p.Pro949=)
c.3060C>G (p.Pro1020=)
Xg.53235128G=CA2429770703IQSEC2c.3717C= (p.Pro1239=)
c.1453+655C=
c.962+655C=
c.316+1194C= (n.316+1194C=)
c.514+1194C= (n.514+1194C=)
n.538C=
c.*43C= (n.*43C=)
c.3558C= (p.Pro1186=)
c.3528C= (p.Pro1176=)
c.3654C= (p.Pro1218=)
c.2943C= (p.Pro981=)
c.3597+655C= (n.3597+655C=)
c.3547+1194C= (n.3547+1194C=)
c.2880C= (p.Pro960=)
c.2847C= (p.Pro949=)
c.3060C= (p.Pro1020=)
Xg.53235128G>TCA516674033IQSEC2c.3717C>A (p.Pro1239=)
c.1453+655C>A
c.962+655C>A
c.316+1194C>A (n.316+1194C>A)
c.514+1194C>A (n.514+1194C>A)
n.538C>A
c.*43C>A (n.*43C>A)
c.3558C>A (p.Pro1186=)
c.3528C>A (p.Pro1176=)
c.3654C>A (p.Pro1218=)
c.2943C>A (p.Pro981=)
c.3597+655C>A (n.3597+655C>A)
c.3547+1194C>A (n.3547+1194C>A)
c.2880C>A (p.Pro960=)
c.2847C>A (p.Pro949=)
c.3060C>A (p.Pro1020=)
 dbSNP gnomAD v4
Xg.53235129G>ACA413142457IQSEC2c.3716C>T (p.Pro1239Leu)
c.1453+654C>T
c.962+654C>T
c.316+1193C>T (n.316+1193C>T)
c.514+1193C>T (n.514+1193C>T)
n.537C>T
c.*42C>T (n.*42C>T)
c.3557C>T (p.Pro1186Leu)
c.3527C>T (p.Pro1176Leu)
c.3653C>T (p.Pro1218Leu)
c.2942C>T (p.Pro981Leu)
c.3597+654C>T (n.3597+654C>T)
c.3547+1193C>T (n.3547+1193C>T)
c.2879C>T (p.Pro960Leu)
c.2846C>T (p.Pro949Leu)
c.3059C>T (p.Pro1020Leu)
 gnomAD v4
Xg.53235129G>CCA413142460IQSEC2c.3716C>G (p.Pro1239Arg)
c.1453+654C>G
c.962+654C>G
c.316+1193C>G (n.316+1193C>G)
c.514+1193C>G (n.514+1193C>G)
n.537C>G
c.*42C>G (n.*42C>G)
c.3557C>G (p.Pro1186Arg)
c.3527C>G (p.Pro1176Arg)
c.3653C>G (p.Pro1218Arg)
c.2942C>G (p.Pro981Arg)
c.3597+654C>G (n.3597+654C>G)
c.3547+1193C>G (n.3547+1193C>G)
c.2879C>G (p.Pro960Arg)
c.2846C>G (p.Pro949Arg)
c.3059C>G (p.Pro1020Arg)
 ClinVar
Xg.53235129G>TCA413142454IQSEC2c.3716C>A (p.Pro1239His)
c.1453+654C>A
c.962+654C>A
c.316+1193C>A (n.316+1193C>A)
c.514+1193C>A (n.514+1193C>A)
n.537C>A
c.*42C>A (n.*42C>A)
c.3557C>A (p.Pro1186His)
c.3527C>A (p.Pro1176His)
c.3653C>A (p.Pro1218His)
c.2942C>A (p.Pro981His)
c.3597+654C>A (n.3597+654C>A)
c.3547+1193C>A (n.3547+1193C>A)
c.2879C>A (p.Pro960His)
c.2846C>A (p.Pro949His)
c.3059C>A (p.Pro1020His)
 gnomAD v4
Xg.53235129_53235131delinsGGTCA2429770704IQSEC2c.3714_3716delinsACC (p.Pro1238=)
c.1453+652_1453+654delinsACC
c.962+652_962+654delinsACC
c.316+1191_316+1193delinsACC (n.316+1191_316+1193delinsACC)
c.514+1191_514+1193delinsACC (n.514+1191_514+1193delinsACC)
n.535_537delinsACC
c.*40_*42delinsACC (n.*40_*42delinsACC)
c.3555_3557delinsACC (p.Pro1185=)
c.3525_3527delinsACC (p.Pro1175=)
c.3651_3653delinsACC (p.Pro1217=)
c.2940_2942delinsACC (p.Pro980=)
c.3597+652_3597+654delinsACC (n.3597+652_3597+654delinsACC)
c.3547+1191_3547+1193delinsACC (n.3547+1191_3547+1193delinsACC)
c.2877_2879delinsACC (p.Pro959=)
c.2844_2846delinsACC (p.Pro948=)
c.3057_3059delinsACC (p.Pro1019=)
Xg.53235134_53235145delCA2693794545IQSEC2c.3705_3716del (p.Pro1236_Pro1239del)
c.1453+643_1453+654del
c.962+643_962+654del
c.316+1182_316+1193del (n.316+1182_316+1193del)
c.514+1182_514+1193del (n.514+1182_514+1193del)
n.526_537del
c.*31_*42del (n.*31_*42del)
c.3546_3557del (p.Pro1183_Pro1186del)
c.3516_3527del (p.Pro1173_Pro1176del)
c.3642_3653del (p.Pro1215_Pro1218del)
c.2931_2942del (p.Pro978_Pro981del)
c.3597+643_3597+654del (n.3597+643_3597+654del)
c.3547+1182_3547+1193del (n.3547+1182_3547+1193del)
c.2868_2879del (p.Pro957_Pro960del)
c.2835_2846del (p.Pro946_Pro949del)
c.3048_3059del (p.Pro1017_Pro1020del)
 gnomAD v4
Xg.53235131_53235145delCA2693794547IQSEC2c.3702_3716del (p.Pro1235_Pro1239del)
c.1453+640_1453+654del
c.962+640_962+654del
c.316+1179_316+1193del (n.316+1179_316+1193del)
c.514+1179_514+1193del (n.514+1179_514+1193del)
n.523_537del
c.*28_*42del (n.*28_*42del)
c.3543_3557del (p.Pro1182_Pro1186del)
c.3513_3527del (p.Pro1172_Pro1176del)
c.3639_3653del (p.Pro1214_Pro1218del)
c.2928_2942del (p.Pro977_Pro981del)
c.3597+640_3597+654del (n.3597+640_3597+654del)
c.3547+1179_3547+1193del (n.3547+1179_3547+1193del)
c.2865_2879del (p.Pro956_Pro960del)
c.2832_2846del (p.Pro945_Pro949del)
c.3045_3059del (p.Pro1016_Pro1020del)
 gnomAD v4
Xg.53235130G>ACA413142465IQSEC2c.3715C>T (p.Pro1239Ser)
c.1453+653C>T
c.962+653C>T
c.316+1192C>T (n.316+1192C>T)
c.514+1192C>T (n.514+1192C>T)
n.536C>T
c.*41C>T (n.*41C>T)
c.3556C>T (p.Pro1186Ser)
c.3526C>T (p.Pro1176Ser)
c.3652C>T (p.Pro1218Ser)
c.2941C>T (p.Pro981Ser)
c.3597+653C>T (n.3597+653C>T)
c.3547+1192C>T (n.3547+1192C>T)
c.2878C>T (p.Pro960Ser)
c.2845C>T (p.Pro949Ser)
c.3058C>T (p.Pro1020Ser)
 gnomAD v4
Xg.53235130G>CCA413142472IQSEC2c.3715C>G (p.Pro1239Ala)
c.1453+653C>G
c.962+653C>G
c.316+1192C>G (n.316+1192C>G)
c.514+1192C>G (n.514+1192C>G)
n.536C>G
c.*41C>G (n.*41C>G)
c.3556C>G (p.Pro1186Ala)
c.3526C>G (p.Pro1176Ala)
c.3652C>G (p.Pro1218Ala)
c.2941C>G (p.Pro981Ala)
c.3597+653C>G (n.3597+653C>G)
c.3547+1192C>G (n.3547+1192C>G)
c.2878C>G (p.Pro960Ala)
c.2845C>G (p.Pro949Ala)
c.3058C>G (p.Pro1020Ala)
 gnomAD v3 gnomAD v4
Xg.53235130G>TCA413142468IQSEC2c.3715C>A (p.Pro1239Thr)
c.1453+653C>A
c.962+653C>A
c.316+1192C>A (n.316+1192C>A)
c.514+1192C>A (n.514+1192C>A)
n.536C>A
c.*41C>A (n.*41C>A)
c.3556C>A (p.Pro1186Thr)
c.3526C>A (p.Pro1176Thr)
c.3652C>A (p.Pro1218Thr)
c.2941C>A (p.Pro981Thr)
c.3597+653C>A (n.3597+653C>A)
c.3547+1192C>A (n.3547+1192C>A)
c.2878C>A (p.Pro960Thr)
c.2845C>A (p.Pro949Thr)
c.3058C>A (p.Pro1020Thr)
 gnomAD v4
Xg.53235131_53235132delCA641903978IQSEC2c.3714_3715del (p.Pro1240AlafsTer?)
c.1453+652_1453+653del
c.962+652_962+653del
c.316+1191_316+1192del (n.316+1191_316+1192del)
c.514+1191_514+1192del (n.514+1191_514+1192del)
n.535_536del
c.*40_*41del (n.*40_*41del)
c.3555_3556del (p.Pro1187AlafsTer?)
c.3525_3526del (p.Pro1177AlafsTer?)
c.3651_3652del (p.Pro1219AlafsTer?)
c.2940_2941del (p.Pro982AlafsTer?)
c.3597+652_3597+653del (n.3597+652_3597+653del)
c.3547+1191_3547+1192del (n.3547+1191_3547+1192del)
c.2877_2878del (p.Pro961AlafsTer?)
c.2844_2845del (p.Pro950AlafsTer?)
c.3057_3058del (p.Pro1021AlafsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235131delCA2693794553IQSEC2c.3714del (p.Pro1240ArgfsTer?)
c.1453+652del
c.962+652del
c.316+1191del (n.316+1191del)
c.514+1191del (n.514+1191del)
n.535del
c.*40del (n.*40del)
c.3555del (p.Pro1187ArgfsTer?)
c.3525del (p.Pro1177ArgfsTer?)
c.3651del (p.Pro1219ArgfsTer?)
c.2940del (p.Pro982ArgfsTer?)
c.3597+652del (n.3597+652del)
c.3547+1191del (n.3547+1191del)
c.2877del (p.Pro961ArgfsTer?)
c.2844del (p.Pro950ArgfsTer?)
c.3057del (p.Pro1021ArgfsTer?)
 gnomAD v4
Xg.53235131T>ACA516674042IQSEC2c.3714A>T (p.Pro1238=)
c.1453+652A>T
c.962+652A>T
c.316+1191A>T (n.316+1191A>T)
c.514+1191A>T (n.514+1191A>T)
n.535A>T
c.*40A>T (n.*40A>T)
c.3555A>T (p.Pro1185=)
c.3525A>T (p.Pro1175=)
c.3651A>T (p.Pro1217=)
c.2940A>T (p.Pro980=)
c.3597+652A>T (n.3597+652A>T)
c.3547+1191A>T (n.3547+1191A>T)
c.2877A>T (p.Pro959=)
c.2844A>T (p.Pro948=)
c.3057A>T (p.Pro1019=)
 gnomAD v4
Xg.53235131T>CCA516674047IQSEC2c.3714A>G (p.Pro1238=)
c.1453+652A>G
c.962+652A>G
c.316+1191A>G (n.316+1191A>G)
c.514+1191A>G (n.514+1191A>G)
n.535A>G
c.*40A>G (n.*40A>G)
c.3555A>G (p.Pro1185=)
c.3525A>G (p.Pro1175=)
c.3651A>G (p.Pro1217=)
c.2940A>G (p.Pro980=)
c.3597+652A>G (n.3597+652A>G)
c.3547+1191A>G (n.3547+1191A>G)
c.2877A>G (p.Pro959=)
c.2844A>G (p.Pro948=)
c.3057A>G (p.Pro1019=)
 gnomAD v3 gnomAD v4
Xg.53235131T>GCA516674045IQSEC2c.3714A>C (p.Pro1238=)
c.1453+652A>C
c.962+652A>C
c.316+1191A>C (n.316+1191A>C)
c.514+1191A>C (n.514+1191A>C)
n.535A>C
c.*40A>C (n.*40A>C)
c.3555A>C (p.Pro1185=)
c.3525A>C (p.Pro1175=)
c.3651A>C (p.Pro1217=)
c.2940A>C (p.Pro980=)
c.3597+652A>C (n.3597+652A>C)
c.3547+1191A>C (n.3547+1191A>C)
c.2877A>C (p.Pro959=)
c.2844A>C (p.Pro948=)
c.3057A>C (p.Pro1019=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235131T=CA2429770705IQSEC2c.3714A= (p.Pro1238=)
c.1453+652A=
c.962+652A=
c.316+1191A= (n.316+1191A=)
c.514+1191A= (n.514+1191A=)
n.535A=
c.*40A= (n.*40A=)
c.3555A= (p.Pro1185=)
c.3525A= (p.Pro1175=)
c.3651A= (p.Pro1217=)
c.2940A= (p.Pro980=)
c.3597+652A= (n.3597+652A=)
c.3547+1191A= (n.3547+1191A=)
c.2877A= (p.Pro959=)
c.2844A= (p.Pro948=)
c.3057A= (p.Pro1019=)
Xg.53235132G>ACA413142476IQSEC2c.3713C>T (p.Pro1238Leu)
c.1453+651C>T
c.962+651C>T
c.316+1190C>T (n.316+1190C>T)
c.514+1190C>T (n.514+1190C>T)
n.534C>T
c.*39C>T (n.*39C>T)
c.3554C>T (p.Pro1185Leu)
c.3524C>T (p.Pro1175Leu)
c.3650C>T (p.Pro1217Leu)
c.2939C>T (p.Pro980Leu)
c.3597+651C>T (n.3597+651C>T)
c.3547+1190C>T (n.3547+1190C>T)
c.2876C>T (p.Pro959Leu)
c.2843C>T (p.Pro948Leu)
c.3056C>T (p.Pro1019Leu)
 dbSNP gnomAD v2
Xg.53235132G>CCA413142480IQSEC2c.3713C>G (p.Pro1238Arg)
c.1453+651C>G
c.962+651C>G
c.316+1190C>G (n.316+1190C>G)
c.514+1190C>G (n.514+1190C>G)
n.534C>G
c.*39C>G (n.*39C>G)
c.3554C>G (p.Pro1185Arg)
c.3524C>G (p.Pro1175Arg)
c.3650C>G (p.Pro1217Arg)
c.2939C>G (p.Pro980Arg)
c.3597+651C>G (n.3597+651C>G)
c.3547+1190C>G (n.3547+1190C>G)
c.2876C>G (p.Pro959Arg)
c.2843C>G (p.Pro948Arg)
c.3056C>G (p.Pro1019Arg)
 ClinVar dbSNP gnomAD v4
Xg.53235132G=CA2429770706IQSEC2c.3713C= (p.Pro1238=)
c.1453+651C=
c.962+651C=
c.316+1190C= (n.316+1190C=)
c.514+1190C= (n.514+1190C=)
n.534C=
c.*39C= (n.*39C=)
c.3554C= (p.Pro1185=)
c.3524C= (p.Pro1175=)
c.3650C= (p.Pro1217=)
c.2939C= (p.Pro980=)
c.3597+651C= (n.3597+651C=)
c.3547+1190C= (n.3547+1190C=)
c.2876C= (p.Pro959=)
c.2843C= (p.Pro948=)
c.3056C= (p.Pro1019=)
Xg.53235132G>TCA413142483IQSEC2c.3713C>A (p.Pro1238Gln)
c.1453+651C>A
c.962+651C>A
c.316+1190C>A (n.316+1190C>A)
c.514+1190C>A (n.514+1190C>A)
n.534C>A
c.*39C>A (n.*39C>A)
c.3554C>A (p.Pro1185Gln)
c.3524C>A (p.Pro1175Gln)
c.3650C>A (p.Pro1217Gln)
c.2939C>A (p.Pro980Gln)
c.3597+651C>A (n.3597+651C>A)
c.3547+1190C>A (n.3547+1190C>A)
c.2876C>A (p.Pro959Gln)
c.2843C>A (p.Pro948Gln)
c.3056C>A (p.Pro1019Gln)
 dbSNP gnomAD v4
Xg.53235136_53235137insGGGGGGCA641903980IQSEC2c.3713_3714insCCCCCC (p.Pro1238_Pro1239insProPro)
c.1453+651_1453+652insCCCCCC
c.962+651_962+652insCCCCCC
c.316+1190_316+1191insCCCCCC (n.316+1190_316+1191insCCCCCC)
c.514+1190_514+1191insCCCCCC (n.514+1190_514+1191insCCCCCC)
n.534_535insCCCCCC
c.*39_*40insCCCCCC (n.*39_*40insCCCCCC)
c.3554_3555insCCCCCC (p.Pro1185_Pro1186insProPro)
c.3524_3525insCCCCCC (p.Pro1175_Pro1176insProPro)
c.3650_3651insCCCCCC (p.Pro1217_Pro1218insProPro)
c.2939_2940insCCCCCC (p.Pro980_Pro981insProPro)
c.3597+651_3597+652insCCCCCC (n.3597+651_3597+652insCCCCCC)
c.3547+1190_3547+1191insCCCCCC (n.3547+1190_3547+1191insCCCCCC)
c.2876_2877insCCCCCC (p.Pro959_Pro960insProPro)
c.2843_2844insCCCCCC (p.Pro948_Pro949insProPro)
c.3056_3057insCCCCCC (p.Pro1019_Pro1020insProPro)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGCA641903981IQSEC2c.3713_3714insCCCCCCCCC (p.Pro1238_Pro1239insProProPro)
c.1453+651_1453+652insCCCCCCCCC
c.962+651_962+652insCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCC)
n.534_535insCCCCCCCCC
c.*39_*40insCCCCCCCCC (n.*39_*40insCCCCCCCCC)
c.3554_3555insCCCCCCCCC (p.Pro1185_Pro1186insProProPro)
c.3524_3525insCCCCCCCCC (p.Pro1175_Pro1176insProProPro)
c.3650_3651insCCCCCCCCC (p.Pro1217_Pro1218insProProPro)
c.2939_2940insCCCCCCCCC (p.Pro980_Pro981insProProPro)
c.3597+651_3597+652insCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCC)
c.2876_2877insCCCCCCCCC (p.Pro959_Pro960insProProPro)
c.2843_2844insCCCCCCCCC (p.Pro948_Pro949insProProPro)
c.3056_3057insCCCCCCCCC (p.Pro1019_Pro1020insProProPro)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGGCA2693794578IQSEC2c.3713_3714insCCCCCCCCCC (p.Pro1242ThrfsTer?)
c.1453+651_1453+652insCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCC)
n.534_535insCCCCCCCCCC
c.*39_*40insCCCCCCCCCC (n.*39_*40insCCCCCCCCCC)
c.3554_3555insCCCCCCCCCC (p.Pro1189ThrfsTer?)
c.3524_3525insCCCCCCCCCC (p.Pro1179ThrfsTer?)
c.3650_3651insCCCCCCCCCC (p.Pro1221ThrfsTer?)
c.2939_2940insCCCCCCCCCC (p.Pro984ThrfsTer?)
c.3597+651_3597+652insCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCC)
c.2876_2877insCCCCCCCCCC (p.Pro963ThrfsTer?)
c.2843_2844insCCCCCCCCCC (p.Pro952ThrfsTer?)
c.3056_3057insCCCCCCCCCC (p.Pro1023ThrfsTer?)
 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGGGCA2693794577IQSEC2c.3713_3714insCCCCCCCCCCC (p.Pro1242HisfsTer?)
c.1453+651_1453+652insCCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCC)
n.534_535insCCCCCCCCCCC
c.*39_*40insCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCC (p.Pro1189HisfsTer?)
c.3524_3525insCCCCCCCCCCC (p.Pro1179HisfsTer?)
c.3650_3651insCCCCCCCCCCC (p.Pro1221HisfsTer?)
c.2939_2940insCCCCCCCCCCC (p.Pro984HisfsTer?)
c.3597+651_3597+652insCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCC (p.Pro963HisfsTer?)
c.2843_2844insCCCCCCCCCCC (p.Pro952HisfsTer?)
c.3056_3057insCCCCCCCCCCC (p.Pro1023HisfsTer?)
 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGGGGCA641903982IQSEC2c.3713_3714insCCCCCCCCCCCC (p.Pro1238_Pro1239insProProProPro)
c.1453+651_1453+652insCCCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCC)
n.534_535insCCCCCCCCCCCC
c.*39_*40insCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCC (p.Pro1185_Pro1186insProProProPro)
c.3524_3525insCCCCCCCCCCCC (p.Pro1175_Pro1176insProProProPro)
c.3650_3651insCCCCCCCCCCCC (p.Pro1217_Pro1218insProProProPro)
c.2939_2940insCCCCCCCCCCCC (p.Pro980_Pro981insProProProPro)
c.3597+651_3597+652insCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCC (p.Pro959_Pro960insProProProPro)
c.2843_2844insCCCCCCCCCCCC (p.Pro948_Pro949insProProProPro)
c.3056_3057insCCCCCCCCCCCC (p.Pro1019_Pro1020insProProProPro)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGGGGGCA2693794576IQSEC2c.3713_3714insCCCCCCCCCCCCC (p.Glu1243ThrfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCC)
n.534_535insCCCCCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCC (p.Glu1190ThrfsTer?)
c.3524_3525insCCCCCCCCCCCCC (p.Glu1180ThrfsTer?)
c.3650_3651insCCCCCCCCCCCCC (p.Glu1222ThrfsTer?)
c.2939_2940insCCCCCCCCCCCCC (p.Glu985ThrfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCC (p.Glu964ThrfsTer?)
c.2843_2844insCCCCCCCCCCCCC (p.Glu953ThrfsTer?)
c.3056_3057insCCCCCCCCCCCCC (p.Glu1024ThrfsTer?)
 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGGGGGGCA1133160179IQSEC2c.3713_3714insCCCCCCCCCCCCCC (p.Glu1243HisfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCC)
n.534_535insCCCCCCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCC (p.Glu1190HisfsTer?)
c.3524_3525insCCCCCCCCCCCCCC (p.Glu1180HisfsTer?)
c.3650_3651insCCCCCCCCCCCCCC (p.Glu1222HisfsTer?)
c.2939_2940insCCCCCCCCCCCCCC (p.Glu985HisfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCC (p.Glu964HisfsTer?)
c.2843_2844insCCCCCCCCCCCCCC (p.Glu953HisfsTer?)
c.3056_3057insCCCCCCCCCCCCCC (p.Glu1024HisfsTer?)
 gnomAD v3 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGGGGGGGCA2820950280IQSEC2c.3713_3714insCCCCCCCCCCCCCCC (p.Pro1238_Pro1239insProProProProPro)
c.1453+651_1453+652insCCCCCCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCC)
n.534_535insCCCCCCCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCC (p.Pro1185_Pro1186insProProProProPro)
c.3524_3525insCCCCCCCCCCCCCCC (p.Pro1175_Pro1176insProProProProPro)
c.3650_3651insCCCCCCCCCCCCCCC (p.Pro1217_Pro1218insProProProProPro)
c.2939_2940insCCCCCCCCCCCCCCC (p.Pro980_Pro981insProProProProPro)
c.3597+651_3597+652insCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCC (p.Pro959_Pro960insProProProProPro)
c.2843_2844insCCCCCCCCCCCCCCC (p.Pro948_Pro949insProProProProPro)
c.3056_3057insCCCCCCCCCCCCCCC (p.Pro1019_Pro1020insProProProProPro)
Xg.53235136_53235137insGGGGGGGGGGGGGGGGGCA2820950279IQSEC2c.3713_3714insCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCC)
n.534_535insCCCCCCCCCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3524_3525insCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3650_3651insCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2939_2940insCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?)
c.2843_2844insCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?)
c.3056_3057insCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?)
Xg.53235136_53235137insGGGGGGGGGGGGGGGGGGGGGGCA2693794572IQSEC2c.3713_3714insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1243ProfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCCCCCCC)
n.534_535insCCCCCCCCCCCCCCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1190ProfsTer?)
c.3524_3525insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1180ProfsTer?)
c.3650_3651insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1222ProfsTer?)
c.2939_2940insCCCCCCCCCCCCCCCCCCCCCC (p.Glu985ProfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCCCCCCCCC (p.Glu964ProfsTer?)
c.2843_2844insCCCCCCCCCCCCCCCCCCCCCC (p.Glu953ProfsTer?)
c.3056_3057insCCCCCCCCCCCCCCCCCCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235136_53235137insGGGAGGGGGGGGGGGGGGGGGGGCA2820950281IQSEC2c.3713_3714insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1243LeufsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCTCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCTCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCTCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCTCCCCCCCC)
n.534_535insCCCCCCCCCCCCCCTCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCCTCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCTCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1190LeufsTer?)
c.3524_3525insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1180LeufsTer?)
c.3650_3651insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1222LeufsTer?)
c.2939_2940insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu985LeufsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCTCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCTCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCTCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCTCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu964LeufsTer?)
c.2843_2844insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu953LeufsTer?)
c.3056_3057insCCCCCCCCCCCCCCTCCCCCCCC (p.Glu1024LeufsTer?)
Xg.53235136_53235137insGCCTGGGGGGGGGGGGGGGGGGGCA2820950282IQSEC2c.3713_3714insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1243GlnfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCAGGCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCAGGCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGCCCCCC)
n.534_535insCCCCCCCCCCCCCCAGGCCCCCC
c.*39_*40insCCCCCCCCCCCCCCAGGCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1190GlnfsTer?)
c.3524_3525insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1180GlnfsTer?)
c.3650_3651insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1222GlnfsTer?)
c.2939_2940insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu985GlnfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCAGGCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu964GlnfsTer?)
c.2843_2844insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu953GlnfsTer?)
c.3056_3057insCCCCCCCCCCCCCCAGGCCCCCC (p.Glu1024GlnfsTer?)
Xg.53235136_53235137insGCCTGGGGCTCTGGTCCCCCTGGGGGGGGGGGGGGGGGGGCA2820950278IQSEC2c.3713_3714insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1243GlnfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC)
n.534_535insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC
c.*39_*40insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1190GlnfsTer?)
c.3524_3525insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1180GlnfsTer?)
c.3650_3651insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1222GlnfsTer?)
c.2939_2940insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu985GlnfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu964GlnfsTer?)
c.2843_2844insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu953GlnfsTer?)
c.3056_3057insCCCCCCCCCCCCCCAGGGGGACCAGAGCCCCAGGCCCCCC (p.Glu1024GlnfsTer?)
Xg.53235136_53235137insGGGGGTGCTGGTTTTTGCCCTCCTGGGGGGGGGGGGGGGGGGGCA2693794570IQSEC2c.3713_3714insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1243GlnfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC)
n.534_535insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1190GlnfsTer?)
c.3524_3525insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1180GlnfsTer?)
c.3650_3651insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1222GlnfsTer?)
c.2939_2940insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu985GlnfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu964GlnfsTer?)
c.2843_2844insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu953GlnfsTer?)
c.3056_3057insCCCCCCCCCCCCCCAGGAGGGCAAAAACCAGCACCCCCCCCCC (p.Glu1024GlnfsTer?)
 gnomAD v4
Xg.53235136_53235137insGGGGGCCTGTGGTTGTGGTCCCCCTGGGGGGGGGGGGGGGGGGGCA2693794597IQSEC2c.3713_3714insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1243GlnfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC)
n.534_535insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1190GlnfsTer?)
c.3524_3525insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1180GlnfsTer?)
c.3650_3651insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1222GlnfsTer?)
c.2939_2940insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu985GlnfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu964GlnfsTer?)
c.2843_2844insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu953GlnfsTer?)
c.3056_3057insCCCCCCCCCCCCCCAGGGGGACCACAACCACAGGCCCCCCCCCC (p.Glu1024GlnfsTer?)
 gnomAD v4
Xg.53235136_53235137insGGGGCCCTGGGGCTTTTTTCCTCCTGGGGGGGGGGGGGGGGGGGCA2693794580IQSEC2c.3713_3714insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1243GlnfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC)
n.534_535insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC
c.*39_*40insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC)
c.3554_3555insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1190GlnfsTer?)
c.3524_3525insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1180GlnfsTer?)
c.3650_3651insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1222GlnfsTer?)
c.2939_2940insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu985GlnfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC)
c.2876_2877insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu964GlnfsTer?)
c.2843_2844insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu953GlnfsTer?)
c.3056_3057insCCCCCCCCCCCCCCAGGAGGAAAAAAGCCCCAGGGCCCCCCCCC (p.Glu1024GlnfsTer?)
 gnomAD v4
Xg.53235136dupCA2693794596IQSEC2c.3713dup (p.Pro1239ThrfsTer?)
c.1453+651dup
c.962+651dup
c.316+1190dup (n.316+1190dup)
c.514+1190dup (n.514+1190dup)
n.534dup
c.*39dup (n.*39dup)
c.3554dup (p.Pro1186ThrfsTer?)
c.3524dup (p.Pro1176ThrfsTer?)
c.3650dup (p.Pro1218ThrfsTer?)
c.2939dup (p.Pro981ThrfsTer?)
c.3597+651dup (n.3597+651dup)
c.3547+1190dup (n.3547+1190dup)
c.2876dup (p.Pro960ThrfsTer?)
c.2843dup (p.Pro949ThrfsTer?)
c.3056dup (p.Pro1020ThrfsTer?)
 gnomAD v4
Xg.53235132_53235136dupCA2693794593IQSEC2c.3709_3713dup (p.Pro1240HisfsTer?)
c.1453+647_1453+651dup
c.962+647_962+651dup
c.316+1186_316+1190dup (n.316+1186_316+1190dup)
c.514+1186_514+1190dup (n.514+1186_514+1190dup)
n.530_534dup
c.*35_*39dup (n.*35_*39dup)
c.3550_3554dup (p.Pro1187HisfsTer?)
c.3520_3524dup (p.Pro1177HisfsTer?)
c.3646_3650dup (p.Pro1219HisfsTer?)
c.2935_2939dup (p.Pro982HisfsTer?)
c.3597+647_3597+651dup (n.3597+647_3597+651dup)
c.3547+1186_3547+1190dup (n.3547+1186_3547+1190dup)
c.2872_2876dup (p.Pro961HisfsTer?)
c.2839_2843dup (p.Pro950HisfsTer?)
c.3052_3056dup (p.Pro1021HisfsTer?)
 gnomAD v4
Xg.53235136delCA2582342908IQSEC2c.3713del (p.Pro1238HisfsTer?)
c.1453+651del
c.962+651del
c.316+1190del (n.316+1190del)
c.514+1190del (n.514+1190del)
n.534del
c.*39del (n.*39del)
c.3554del (p.Pro1185HisfsTer?)
c.3524del (p.Pro1175HisfsTer?)
c.3650del (p.Pro1217HisfsTer?)
c.2939del (p.Pro980HisfsTer?)
c.3597+651del (n.3597+651del)
c.3547+1190del (n.3547+1190del)
c.2876del (p.Pro959HisfsTer?)
c.2843del (p.Pro948HisfsTer?)
c.3056del (p.Pro1019HisfsTer?)
 ClinVar gnomAD v4
Xg.53235137_53235138insCCTGGGGGGGGGGGGGGGGGGGCCA2693794590IQSEC2c.3713_3714insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1243GlnfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCAGGGCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCAGGGCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCAGGGCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCAGGGCCCCC)
n.534_535insCCCCCCCCCCCCCCAGGGCCCCC
c.*39_*40insCCCCCCCCCCCCCCAGGGCCCCC (n.*39_*40insCCCCCCCCCCCCCCAGGGCCCCC)
c.3554_3555insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1190GlnfsTer?)
c.3524_3525insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1180GlnfsTer?)
c.3650_3651insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1222GlnfsTer?)
c.2939_2940insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu985GlnfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCAGGGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCAGGGCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCAGGGCCCCC)
c.2876_2877insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu964GlnfsTer?)
c.2843_2844insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu953GlnfsTer?)
c.3056_3057insCCCCCCCCCCCCCCAGGGCCCCC (p.Glu1024GlnfsTer?)
 gnomAD v4
Xg.53235139_53235140insGGGGGGGGGCGGCA641903979IQSEC2c.3713_3714insCCCCCCGCCCCC (p.Pro1238_Pro1239insProProProPro)
c.1453+651_1453+652insCCCCCCGCCCCC
c.962+651_962+652insCCCCCCGCCCCC
c.316+1190_316+1191insCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCGCCCCC)
c.514+1190_514+1191insCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCGCCCCC)
n.534_535insCCCCCCGCCCCC
c.*39_*40insCCCCCCGCCCCC (n.*39_*40insCCCCCCGCCCCC)
c.3554_3555insCCCCCCGCCCCC (p.Pro1185_Pro1186insProProProPro)
c.3524_3525insCCCCCCGCCCCC (p.Pro1175_Pro1176insProProProPro)
c.3650_3651insCCCCCCGCCCCC (p.Pro1217_Pro1218insProProProPro)
c.2939_2940insCCCCCCGCCCCC (p.Pro980_Pro981insProProProPro)
c.3597+651_3597+652insCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCGCCCCC)
c.3547+1190_3547+1191insCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCGCCCCC)
c.2876_2877insCCCCCCGCCCCC (p.Pro959_Pro960insProProProPro)
c.2843_2844insCCCCCCGCCCCC (p.Pro948_Pro949insProProProPro)
c.3056_3057insCCCCCCGCCCCC (p.Pro1019_Pro1020insProProProPro)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235139_53235140insGGGGGGGGGGGGCGGCA1133160175IQSEC2c.3713_3714insCCCCCCCCCGCCCCC (p.Pro1238_Pro1239insProProProProPro)
c.1453+651_1453+652insCCCCCCCCCGCCCCC
c.962+651_962+652insCCCCCCCCCGCCCCC
c.316+1190_316+1191insCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCGCCCCC)
c.514+1190_514+1191insCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCGCCCCC)
n.534_535insCCCCCCCCCGCCCCC
c.*39_*40insCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCGCCCCC)
c.3554_3555insCCCCCCCCCGCCCCC (p.Pro1185_Pro1186insProProProProPro)
c.3524_3525insCCCCCCCCCGCCCCC (p.Pro1175_Pro1176insProProProProPro)
c.3650_3651insCCCCCCCCCGCCCCC (p.Pro1217_Pro1218insProProProProPro)
c.2939_2940insCCCCCCCCCGCCCCC (p.Pro980_Pro981insProProProProPro)
c.3597+651_3597+652insCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCGCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCGCCCCC)
c.2876_2877insCCCCCCCCCGCCCCC (p.Pro959_Pro960insProProProProPro)
c.2843_2844insCCCCCCCCCGCCCCC (p.Pro948_Pro949insProProProProPro)
c.3056_3057insCCCCCCCCCGCCCCC (p.Pro1019_Pro1020insProProProProPro)
 gnomAD v3 gnomAD v4
Xg.53235139_53235140insGGGGGGGGGGGGGGGGCGGCA2693794587IQSEC2c.3713_3714insCCCCCCCCCCCCCGCCCCC (p.Glu1243AlafsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCGCCCCC
c.962+651_962+652insCCCCCCCCCCCCCGCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCGCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCGCCCCC)
n.534_535insCCCCCCCCCCCCCGCCCCC
c.*39_*40insCCCCCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCCCCCGCCCCC)
c.3554_3555insCCCCCCCCCCCCCGCCCCC (p.Glu1190AlafsTer?)
c.3524_3525insCCCCCCCCCCCCCGCCCCC (p.Glu1180AlafsTer?)
c.3650_3651insCCCCCCCCCCCCCGCCCCC (p.Glu1222AlafsTer?)
c.2939_2940insCCCCCCCCCCCCCGCCCCC (p.Glu985AlafsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCGCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCGCCCCC)
c.2876_2877insCCCCCCCCCCCCCGCCCCC (p.Glu964AlafsTer?)
c.2843_2844insCCCCCCCCCCCCCGCCCCC (p.Glu953AlafsTer?)
c.3056_3057insCCCCCCCCCCCCCGCCCCC (p.Glu1024AlafsTer?)
 gnomAD v4
Xg.53235139_53235140insGGGGGGGGGGGGGGGGGGGCGGCA2693794574IQSEC2c.3713_3714insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1243ProfsTer?)
c.1453+651_1453+652insCCCCCCCCCCCCCCCCGCCCCC
c.962+651_962+652insCCCCCCCCCCCCCCCCGCCCCC
c.316+1190_316+1191insCCCCCCCCCCCCCCCCGCCCCC (n.316+1190_316+1191insCCCCCCCCCCCCCCCCGCCCCC)
c.514+1190_514+1191insCCCCCCCCCCCCCCCCGCCCCC (n.514+1190_514+1191insCCCCCCCCCCCCCCCCGCCCCC)
n.534_535insCCCCCCCCCCCCCCCCGCCCCC
c.*39_*40insCCCCCCCCCCCCCCCCGCCCCC (n.*39_*40insCCCCCCCCCCCCCCCCGCCCCC)
c.3554_3555insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1190ProfsTer?)
c.3524_3525insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1180ProfsTer?)
c.3650_3651insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1222ProfsTer?)
c.2939_2940insCCCCCCCCCCCCCCCCGCCCCC (p.Glu985ProfsTer?)
c.3597+651_3597+652insCCCCCCCCCCCCCCCCGCCCCC (n.3597+651_3597+652insCCCCCCCCCCCCCCCCGCCCCC)
c.3547+1190_3547+1191insCCCCCCCCCCCCCCCCGCCCCC (n.3547+1190_3547+1191insCCCCCCCCCCCCCCCCGCCCCC)
c.2876_2877insCCCCCCCCCCCCCCCCGCCCCC (p.Glu964ProfsTer?)
c.2843_2844insCCCCCCCCCCCCCCCCGCCCCC (p.Glu953ProfsTer?)
c.3056_3057insCCCCCCCCCCCCCCCCGCCCCC (p.Glu1024ProfsTer?)
 gnomAD v4
Xg.53235134_53235139delCA2693794568IQSEC2c.3708_3713del (p.Pro1237_Pro1238del)
c.1453+646_1453+651del
c.962+646_962+651del
c.316+1185_316+1190del (n.316+1185_316+1190del)
c.514+1185_514+1190del (n.514+1185_514+1190del)
n.529_534del
c.*34_*39del (n.*34_*39del)
c.3549_3554del (p.Pro1184_Pro1185del)
c.3519_3524del (p.Pro1174_Pro1175del)
c.3645_3650del (p.Pro1216_Pro1217del)
c.2934_2939del (p.Pro979_Pro980del)
c.3597+646_3597+651del (n.3597+646_3597+651del)
c.3547+1185_3547+1190del (n.3547+1185_3547+1190del)
c.2871_2876del (p.Pro958_Pro959del)
c.2838_2843del (p.Pro947_Pro948del)
c.3051_3056del (p.Pro1018_Pro1019del)
 gnomAD v4
Xg.53235133G>ACA413142484IQSEC2c.3712C>T (p.Pro1238Ser)
c.1453+650C>T
c.962+650C>T
c.316+1189C>T (n.316+1189C>T)
c.514+1189C>T (n.514+1189C>T)
n.533C>T
c.*38C>T (n.*38C>T)
c.3553C>T (p.Pro1185Ser)
c.3523C>T (p.Pro1175Ser)
c.3649C>T (p.Pro1217Ser)
c.2938C>T (p.Pro980Ser)
c.3597+650C>T (n.3597+650C>T)
c.3547+1189C>T (n.3547+1189C>T)
c.2875C>T (p.Pro959Ser)
c.2842C>T (p.Pro948Ser)
c.3055C>T (p.Pro1019Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235133G>CCA413142487IQSEC2c.3712C>G (p.Pro1238Ala)
c.1453+650C>G
c.962+650C>G
c.316+1189C>G (n.316+1189C>G)
c.514+1189C>G (n.514+1189C>G)
n.533C>G
c.*38C>G (n.*38C>G)
c.3553C>G (p.Pro1185Ala)
c.3523C>G (p.Pro1175Ala)
c.3649C>G (p.Pro1217Ala)
c.2938C>G (p.Pro980Ala)
c.3597+650C>G (n.3597+650C>G)
c.3547+1189C>G (n.3547+1189C>G)
c.2875C>G (p.Pro959Ala)
c.2842C>G (p.Pro948Ala)
c.3055C>G (p.Pro1019Ala)
Xg.53235133G=CA2429770707IQSEC2c.3712C= (p.Pro1238=)
c.1453+650C=
c.962+650C=
c.316+1189C= (n.316+1189C=)
c.514+1189C= (n.514+1189C=)
n.533C=
c.*38C= (n.*38C=)
c.3553C= (p.Pro1185=)
c.3523C= (p.Pro1175=)
c.3649C= (p.Pro1217=)
c.2938C= (p.Pro980=)
c.3597+650C= (n.3597+650C=)
c.3547+1189C= (n.3547+1189C=)
c.2875C= (p.Pro959=)
c.2842C= (p.Pro948=)
c.3055C= (p.Pro1019=)
Xg.53235133G>TCA413142488IQSEC2c.3712C>A (p.Pro1238Thr)
c.1453+650C>A
c.962+650C>A
c.316+1189C>A (n.316+1189C>A)
c.514+1189C>A (n.514+1189C>A)
n.533C>A
c.*38C>A (n.*38C>A)
c.3553C>A (p.Pro1185Thr)
c.3523C>A (p.Pro1175Thr)
c.3649C>A (p.Pro1217Thr)
c.2938C>A (p.Pro980Thr)
c.3597+650C>A (n.3597+650C>A)
c.3547+1189C>A (n.3547+1189C>A)
c.2875C>A (p.Pro959Thr)
c.2842C>A (p.Pro948Thr)
c.3055C>A (p.Pro1019Thr)
 gnomAD v4
Xg.53235134G>ACA516674049IQSEC2c.3711C>T (p.Pro1237=)
c.1453+649C>T
c.962+649C>T
c.316+1188C>T (n.316+1188C>T)
c.514+1188C>T (n.514+1188C>T)
n.532C>T
c.*37C>T (n.*37C>T)
c.3552C>T (p.Pro1184=)
c.3522C>T (p.Pro1174=)
c.3648C>T (p.Pro1216=)
c.2937C>T (p.Pro979=)
c.3597+649C>T (n.3597+649C>T)
c.3547+1188C>T (n.3547+1188C>T)
c.2874C>T (p.Pro958=)
c.2841C>T (p.Pro947=)
c.3054C>T (p.Pro1018=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235134G>CCA516674050IQSEC2c.3711C>G (p.Pro1237=)
c.1453+649C>G
c.962+649C>G
c.316+1188C>G (n.316+1188C>G)
c.514+1188C>G (n.514+1188C>G)
n.532C>G
c.*37C>G (n.*37C>G)
c.3552C>G (p.Pro1184=)
c.3522C>G (p.Pro1174=)
c.3648C>G (p.Pro1216=)
c.2937C>G (p.Pro979=)
c.3597+649C>G (n.3597+649C>G)
c.3547+1188C>G (n.3547+1188C>G)
c.2874C>G (p.Pro958=)
c.2841C>G (p.Pro947=)
c.3054C>G (p.Pro1018=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53235134G=CA2429770708IQSEC2c.3711C= (p.Pro1237=)
c.1453+649C=
c.962+649C=
c.316+1188C= (n.316+1188C=)
c.514+1188C= (n.514+1188C=)
n.532C=
c.*37C= (n.*37C=)
c.3552C= (p.Pro1184=)
c.3522C= (p.Pro1174=)
c.3648C= (p.Pro1216=)
c.2937C= (p.Pro979=)
c.3597+649C= (n.3597+649C=)
c.3547+1188C= (n.3547+1188C=)
c.2874C= (p.Pro958=)
c.2841C= (p.Pro947=)
c.3054C= (p.Pro1018=)
Xg.53235134G>TCA516674051IQSEC2c.3711C>A (p.Pro1237=)
c.1453+649C>A
c.962+649C>A
c.316+1188C>A (n.316+1188C>A)
c.514+1188C>A (n.514+1188C>A)
n.532C>A
c.*37C>A (n.*37C>A)
c.3552C>A (p.Pro1184=)
c.3522C>A (p.Pro1174=)
c.3648C>A (p.Pro1216=)
c.2937C>A (p.Pro979=)
c.3597+649C>A (n.3597+649C>A)
c.3547+1188C>A (n.3547+1188C>A)
c.2874C>A (p.Pro958=)
c.2841C>A (p.Pro947=)
c.3054C>A (p.Pro1018=)
 gnomAD v4
Xg.53235135G>ACA413142489IQSEC2c.3710C>T (p.Pro1237Leu)
c.1453+648C>T
c.962+648C>T
c.316+1187C>T (n.316+1187C>T)
c.514+1187C>T (n.514+1187C>T)
n.531C>T
c.*36C>T (n.*36C>T)
c.3551C>T (p.Pro1184Leu)
c.3521C>T (p.Pro1174Leu)
c.3647C>T (p.Pro1216Leu)
c.2936C>T (p.Pro979Leu)
c.3597+648C>T (n.3597+648C>T)
c.3547+1187C>T (n.3547+1187C>T)
c.2873C>T (p.Pro958Leu)
c.2840C>T (p.Pro947Leu)
c.3053C>T (p.Pro1018Leu)
 gnomAD v4
Xg.53235135G>CCA413142490IQSEC2c.3710C>G (p.Pro1237Arg)
c.1453+648C>G
c.962+648C>G
c.316+1187C>G (n.316+1187C>G)
c.514+1187C>G (n.514+1187C>G)
n.531C>G
c.*36C>G (n.*36C>G)
c.3551C>G (p.Pro1184Arg)
c.3521C>G (p.Pro1174Arg)
c.3647C>G (p.Pro1216Arg)
c.2936C>G (p.Pro979Arg)
c.3597+648C>G (n.3597+648C>G)
c.3547+1187C>G (n.3547+1187C>G)
c.2873C>G (p.Pro958Arg)
c.2840C>G (p.Pro947Arg)
c.3053C>G (p.Pro1018Arg)
Xg.53235135G>TCA413142492IQSEC2c.3710C>A (p.Pro1237His)
c.1453+648C>A
c.962+648C>A
c.316+1187C>A (n.316+1187C>A)
c.514+1187C>A (n.514+1187C>A)
n.531C>A
c.*36C>A (n.*36C>A)
c.3551C>A (p.Pro1184His)
c.3521C>A (p.Pro1174His)
c.3647C>A (p.Pro1216His)
c.2936C>A (p.Pro979His)
c.3597+648C>A (n.3597+648C>A)
c.3547+1187C>A (n.3547+1187C>A)
c.2873C>A (p.Pro958His)
c.2840C>A (p.Pro947His)
c.3053C>A (p.Pro1018His)
 gnomAD v4
Xg.53235135_53235146delCA2693794609IQSEC2c.3699_3710del (p.Met1233_Pro1237delinsIle)
c.1453+637_1453+648del
c.962+637_962+648del
c.316+1176_316+1187del (n.316+1176_316+1187del)
c.514+1176_514+1187del (n.514+1176_514+1187del)
n.520_531del
c.*25_*36del (n.*25_*36del)
c.3540_3551del (p.Met1180_Pro1184delinsIle)
c.3510_3521del (p.Met1170_Pro1174delinsIle)
c.3636_3647del (p.Met1212_Pro1216delinsIle)
c.2925_2936del (p.Met975_Pro979delinsIle)
c.3597+637_3597+648del (n.3597+637_3597+648del)
c.3547+1176_3547+1187del (n.3547+1176_3547+1187del)
c.2862_2873del (p.Met954_Pro958delinsIle)
c.2829_2840del (p.Met943_Pro947delinsIle)
c.3042_3053del (p.Met1014_Pro1018delinsIle)
 gnomAD v4
Xg.53235138_53235146delCA2693794608IQSEC2c.3702_3710del (p.Pro1235_Pro1237del)
c.1453+640_1453+648del
c.962+640_962+648del
c.316+1179_316+1187del (n.316+1179_316+1187del)
c.514+1179_514+1187del (n.514+1179_514+1187del)
n.523_531del
c.*28_*36del (n.*28_*36del)
c.3543_3551del (p.Pro1182_Pro1184del)
c.3513_3521del (p.Pro1172_Pro1174del)
c.3639_3647del (p.Pro1214_Pro1216del)
c.2928_2936del (p.Pro977_Pro979del)
c.3597+640_3597+648del (n.3597+640_3597+648del)
c.3547+1179_3547+1187del (n.3547+1179_3547+1187del)
c.2865_2873del (p.Pro956_Pro958del)
c.2832_2840del (p.Pro945_Pro947del)
c.3045_3053del (p.Pro1016_Pro1018del)
 gnomAD v4
Xg.53235136G>ACA413142494IQSEC2c.3709C>T (p.Pro1237Ser)
c.1453+647C>T
c.962+647C>T
c.316+1186C>T (n.316+1186C>T)
c.514+1186C>T (n.514+1186C>T)
n.530C>T
c.*35C>T (n.*35C>T)
c.3550C>T (p.Pro1184Ser)
c.3520C>T (p.Pro1174Ser)
c.3646C>T (p.Pro1216Ser)
c.2935C>T (p.Pro979Ser)
c.3597+647C>T (n.3597+647C>T)
c.3547+1186C>T (n.3547+1186C>T)
c.2872C>T (p.Pro958Ser)
c.2839C>T (p.Pro947Ser)
c.3052C>T (p.Pro1018Ser)
 gnomAD v4
Xg.53235136G>CCA413142495IQSEC2c.3709C>G (p.Pro1237Ala)
c.1453+647C>G
c.962+647C>G
c.316+1186C>G (n.316+1186C>G)
c.514+1186C>G (n.514+1186C>G)
n.530C>G
c.*35C>G (n.*35C>G)
c.3550C>G (p.Pro1184Ala)
c.3520C>G (p.Pro1174Ala)
c.3646C>G (p.Pro1216Ala)
c.2935C>G (p.Pro979Ala)
c.3597+647C>G (n.3597+647C>G)
c.3547+1186C>G (n.3547+1186C>G)
c.2872C>G (p.Pro958Ala)
c.2839C>G (p.Pro947Ala)
c.3052C>G (p.Pro1018Ala)
 gnomAD v4
Xg.53235136G>TCA413142497IQSEC2c.3709C>A (p.Pro1237Thr)
c.1453+647C>A
c.962+647C>A
c.316+1186C>A (n.316+1186C>A)
c.514+1186C>A (n.514+1186C>A)
n.530C>A
c.*35C>A (n.*35C>A)
c.3550C>A (p.Pro1184Thr)
c.3520C>A (p.Pro1174Thr)
c.3646C>A (p.Pro1216Thr)
c.2935C>A (p.Pro979Thr)
c.3597+647C>A (n.3597+647C>A)
c.3547+1186C>A (n.3547+1186C>A)
c.2872C>A (p.Pro958Thr)
c.2839C>A (p.Pro947Thr)
c.3052C>A (p.Pro1018Thr)
 gnomAD v4
Xg.53235136_53235137insGCCA2693794618IQSEC2c.3708_3709insGC (p.Pro1237AlafsTer?)
c.1453+646_1453+647insGC
c.962+646_962+647insGC
c.316+1185_316+1186insGC (n.316+1185_316+1186insGC)
c.514+1185_514+1186insGC (n.514+1185_514+1186insGC)
n.529_530insGC
c.*34_*35insGC (n.*34_*35insGC)
c.3549_3550insGC (p.Pro1184AlafsTer?)
c.3519_3520insGC (p.Pro1174AlafsTer?)
c.3645_3646insGC (p.Pro1216AlafsTer?)
c.2934_2935insGC (p.Pro979AlafsTer?)
c.3597+646_3597+647insGC (n.3597+646_3597+647insGC)
c.3547+1185_3547+1186insGC (n.3547+1185_3547+1186insGC)
c.2871_2872insGC (p.Pro958AlafsTer?)
c.2838_2839insGC (p.Pro947AlafsTer?)
c.3051_3052insGC (p.Pro1018AlafsTer?)
 gnomAD v4
Xg.53235136_53235137insGGCCA2693794620IQSEC2c.3708_3709insGCC (p.Pro1236_Pro1237insAla)
c.1453+646_1453+647insGCC
c.962+646_962+647insGCC
c.316+1185_316+1186insGCC (n.316+1185_316+1186insGCC)
c.514+1185_514+1186insGCC (n.514+1185_514+1186insGCC)
n.529_530insGCC
c.*34_*35insGCC (n.*34_*35insGCC)
c.3549_3550insGCC (p.Pro1183_Pro1184insAla)
c.3519_3520insGCC (p.Pro1173_Pro1174insAla)
c.3645_3646insGCC (p.Pro1215_Pro1216insAla)
c.2934_2935insGCC (p.Pro978_Pro979insAla)
c.3597+646_3597+647insGCC (n.3597+646_3597+647insGCC)
c.3547+1185_3547+1186insGCC (n.3547+1185_3547+1186insGCC)
c.2871_2872insGCC (p.Pro957_Pro958insAla)
c.2838_2839insGCC (p.Pro946_Pro947insAla)
c.3051_3052insGCC (p.Pro1017_Pro1018insAla)
 gnomAD v4
Xg.53235136_53235137insGGGGGGGGGGGGGCCA2820950283IQSEC2c.3708_3709insGCCCCCCCCCCCCC (p.Pro1237AlafsTer?)
c.1453+646_1453+647insGCCCCCCCCCCCCC
c.962+646_962+647insGCCCCCCCCCCCCC
c.316+1185_316+1186insGCCCCCCCCCCCCC (n.316+1185_316+1186insGCCCCCCCCCCCCC)
c.514+1185_514+1186insGCCCCCCCCCCCCC (n.514+1185_514+1186insGCCCCCCCCCCCCC)
n.529_530insGCCCCCCCCCCCCC
c.*34_*35insGCCCCCCCCCCCCC (n.*34_*35insGCCCCCCCCCCCCC)
c.3549_3550insGCCCCCCCCCCCCC (p.Pro1184AlafsTer?)
c.3519_3520insGCCCCCCCCCCCCC (p.Pro1174AlafsTer?)
c.3645_3646insGCCCCCCCCCCCCC (p.Pro1216AlafsTer?)
c.2934_2935insGCCCCCCCCCCCCC (p.Pro979AlafsTer?)
c.3597+646_3597+647insGCCCCCCCCCCCCC (n.3597+646_3597+647insGCCCCCCCCCCCCC)
c.3547+1185_3547+1186insGCCCCCCCCCCCCC (n.3547+1185_3547+1186insGCCCCCCCCCCCCC)
c.2871_2872insGCCCCCCCCCCCCC (p.Pro958AlafsTer?)
c.2838_2839insGCCCCCCCCCCCCC (p.Pro947AlafsTer?)
c.3051_3052insGCCCCCCCCCCCCC (p.Pro1018AlafsTer?)
Xg.53235136_53235137insGGGGGGGGGGGGGGCCA2693794621IQSEC2c.3708_3709insGCCCCCCCCCCCCCC (p.Pro1236_Pro1237insAlaProProProPro)
c.1453+646_1453+647insGCCCCCCCCCCCCCC
c.962+646_962+647insGCCCCCCCCCCCCCC
c.316+1185_316+1186insGCCCCCCCCCCCCCC (n.316+1185_316+1186insGCCCCCCCCCCCCCC)
c.514+1185_514+1186insGCCCCCCCCCCCCCC (n.514+1185_514+1186insGCCCCCCCCCCCCCC)
n.529_530insGCCCCCCCCCCCCCC
c.*34_*35insGCCCCCCCCCCCCCC (n.*34_*35insGCCCCCCCCCCCCCC)
c.3549_3550insGCCCCCCCCCCCCCC (p.Pro1183_Pro1184insAlaProProProPro)
c.3519_3520insGCCCCCCCCCCCCCC (p.Pro1173_Pro1174insAlaProProProPro)
c.3645_3646insGCCCCCCCCCCCCCC (p.Pro1215_Pro1216insAlaProProProPro)
c.2934_2935insGCCCCCCCCCCCCCC (p.Pro978_Pro979insAlaProProProPro)
c.3597+646_3597+647insGCCCCCCCCCCCCCC (n.3597+646_3597+647insGCCCCCCCCCCCCCC)
c.3547+1185_3547+1186insGCCCCCCCCCCCCCC (n.3547+1185_3547+1186insGCCCCCCCCCCCCCC)
c.2871_2872insGCCCCCCCCCCCCCC (p.Pro957_Pro958insAlaProProProPro)
c.2838_2839insGCCCCCCCCCCCCCC (p.Pro946_Pro947insAlaProProProPro)
c.3051_3052insGCCCCCCCCCCCCCC (p.Pro1017_Pro1018insAlaProProProPro)
 gnomAD v4
Xg.53235137C>ACA516674054IQSEC2c.3708G>T (p.Pro1236=)
c.1453+646G>T
c.962+646G>T
c.316+1185G>T (n.316+1185G>T)
c.514+1185G>T (n.514+1185G>T)
n.529G>T
c.*34G>T (n.*34G>T)
c.3549G>T (p.Pro1183=)
c.3519G>T (p.Pro1173=)
c.3645G>T (p.Pro1215=)
c.2934G>T (p.Pro978=)
c.3597+646G>T (n.3597+646G>T)
c.3547+1185G>T (n.3547+1185G>T)
c.2871G>T (p.Pro957=)
c.2838G>T (p.Pro946=)
c.3051G>T (p.Pro1017=)
Xg.53235137C=CA2429770709IQSEC2c.3708G= (p.Pro1236=)
c.1453+646G=
c.962+646G=
c.316+1185G= (n.316+1185G=)
c.514+1185G= (n.514+1185G=)
n.529G=
c.*34G= (n.*34G=)
c.3549G= (p.Pro1183=)
c.3519G= (p.Pro1173=)
c.3645G= (p.Pro1215=)
c.2934G= (p.Pro978=)
c.3597+646G= (n.3597+646G=)
c.3547+1185G= (n.3547+1185G=)
c.2871G= (p.Pro957=)
c.2838G= (p.Pro946=)
c.3051G= (p.Pro1017=)
Xg.53235137C>GCA516674055IQSEC2c.3708G>C (p.Pro1236=)
c.1453+646G>C
c.962+646G>C
c.316+1185G>C (n.316+1185G>C)
c.514+1185G>C (n.514+1185G>C)
n.529G>C
c.*34G>C (n.*34G>C)
c.3549G>C (p.Pro1183=)
c.3519G>C (p.Pro1173=)
c.3645G>C (p.Pro1215=)
c.2934G>C (p.Pro978=)
c.3597+646G>C (n.3597+646G>C)
c.3547+1185G>C (n.3547+1185G>C)
c.2871G>C (p.Pro957=)
c.2838G>C (p.Pro946=)
c.3051G>C (p.Pro1017=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235137C>TCA329162221IQSEC2c.3708G>A (p.Pro1236=)
c.1453+646G>A
c.962+646G>A
c.316+1185G>A (n.316+1185G>A)
c.514+1185G>A (n.514+1185G>A)
n.529G>A
c.*34G>A (n.*34G>A)
c.3549G>A (p.Pro1183=)
c.3519G>A (p.Pro1173=)
c.3645G>A (p.Pro1215=)
c.2934G>A (p.Pro978=)
c.3597+646G>A (n.3597+646G>A)
c.3547+1185G>A (n.3547+1185G>A)
c.2871G>A (p.Pro957=)
c.2838G>A (p.Pro946=)
c.3051G>A (p.Pro1017=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53235137dupCA2693794623IQSEC2c.3708dup (p.Pro1237AlafsTer?)
c.1453+646dup
c.962+646dup
c.316+1185dup (n.316+1185dup)
c.514+1185dup (n.514+1185dup)
n.529dup
c.*34dup (n.*34dup)
c.3549dup (p.Pro1184AlafsTer?)
c.3519dup (p.Pro1174AlafsTer?)
c.3645dup (p.Pro1216AlafsTer?)
c.2934dup (p.Pro979AlafsTer?)
c.3597+646dup (n.3597+646dup)
c.3547+1185dup (n.3547+1185dup)
c.2871dup (p.Pro958AlafsTer?)
c.2838dup (p.Pro947AlafsTer?)
c.3051dup (p.Pro1018AlafsTer?)
 gnomAD v4
Xg.53235138G>ACA413142507IQSEC2c.3707C>T (p.Pro1236Leu)
c.1453+645C>T
c.962+645C>T
c.316+1184C>T (n.316+1184C>T)
c.514+1184C>T (n.514+1184C>T)
n.528C>T
c.*33C>T (n.*33C>T)
c.3548C>T (p.Pro1183Leu)
c.3518C>T (p.Pro1173Leu)
c.3644C>T (p.Pro1215Leu)
c.2933C>T (p.Pro978Leu)
c.3597+645C>T (n.3597+645C>T)
c.3547+1184C>T (n.3547+1184C>T)
c.2870C>T (p.Pro957Leu)
c.2837C>T (p.Pro946Leu)
c.3050C>T (p.Pro1017Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235138G>CCA413142516IQSEC2c.3707C>G (p.Pro1236Arg)
c.1453+645C>G
c.962+645C>G
c.316+1184C>G (n.316+1184C>G)
c.514+1184C>G (n.514+1184C>G)
n.528C>G
c.*33C>G (n.*33C>G)
c.3548C>G (p.Pro1183Arg)
c.3518C>G (p.Pro1173Arg)
c.3644C>G (p.Pro1215Arg)
c.2933C>G (p.Pro978Arg)
c.3597+645C>G (n.3597+645C>G)
c.3547+1184C>G (n.3547+1184C>G)
c.2870C>G (p.Pro957Arg)
c.2837C>G (p.Pro946Arg)
c.3050C>G (p.Pro1017Arg)
 gnomAD v4
Xg.53235138G=CA2429770710IQSEC2c.3707C= (p.Pro1236=)
c.1453+645C=
c.962+645C=
c.316+1184C= (n.316+1184C=)
c.514+1184C= (n.514+1184C=)
n.528C=
c.*33C= (n.*33C=)
c.3548C= (p.Pro1183=)
c.3518C= (p.Pro1173=)
c.3644C= (p.Pro1215=)
c.2933C= (p.Pro978=)
c.3597+645C= (n.3597+645C=)
c.3547+1184C= (n.3547+1184C=)
c.2870C= (p.Pro957=)
c.2837C= (p.Pro946=)
c.3050C= (p.Pro1017=)
Xg.53235138G>TCA413142511IQSEC2c.3707C>A (p.Pro1236Gln)
c.1453+645C>A
c.962+645C>A
c.316+1184C>A (n.316+1184C>A)
c.514+1184C>A (n.514+1184C>A)
n.528C>A
c.*33C>A (n.*33C>A)
c.3548C>A (p.Pro1183Gln)
c.3518C>A (p.Pro1173Gln)
c.3644C>A (p.Pro1215Gln)
c.2933C>A (p.Pro978Gln)
c.3597+645C>A (n.3597+645C>A)
c.3547+1184C>A (n.3547+1184C>A)
c.2870C>A (p.Pro957Gln)
c.2837C>A (p.Pro946Gln)
c.3050C>A (p.Pro1017Gln)
 gnomAD v4
Xg.53235139G>ACA413142519IQSEC2c.3706C>T (p.Pro1236Ser)
c.1453+644C>T
c.962+644C>T
c.316+1183C>T (n.316+1183C>T)
c.514+1183C>T (n.514+1183C>T)
n.527C>T
c.*32C>T (n.*32C>T)
c.3547C>T (p.Pro1183Ser)
c.3517C>T (p.Pro1173Ser)
c.3643C>T (p.Pro1215Ser)
c.2932C>T (p.Pro978Ser)
c.3597+644C>T (n.3597+644C>T)
c.3547+1183C>T (n.3547+1183C>T)
c.2869C>T (p.Pro957Ser)
c.2836C>T (p.Pro946Ser)
c.3049C>T (p.Pro1017Ser)
Xg.53235139G>CCA413142522IQSEC2c.3706C>G (p.Pro1236Ala)
c.1453+644C>G
c.962+644C>G
c.316+1183C>G (n.316+1183C>G)
c.514+1183C>G (n.514+1183C>G)
n.527C>G
c.*32C>G (n.*32C>G)
c.3547C>G (p.Pro1183Ala)
c.3517C>G (p.Pro1173Ala)
c.3643C>G (p.Pro1215Ala)
c.2932C>G (p.Pro978Ala)
c.3597+644C>G (n.3597+644C>G)
c.3547+1183C>G (n.3547+1183C>G)
c.2869C>G (p.Pro957Ala)
c.2836C>G (p.Pro946Ala)
c.3049C>G (p.Pro1017Ala)
 gnomAD v4
Xg.53235139G>TCA413142524IQSEC2c.3706C>A (p.Pro1236Thr)
c.1453+644C>A
c.962+644C>A
c.316+1183C>A (n.316+1183C>A)
c.514+1183C>A (n.514+1183C>A)
n.527C>A
c.*32C>A (n.*32C>A)
c.3547C>A (p.Pro1183Thr)
c.3517C>A (p.Pro1173Thr)
c.3643C>A (p.Pro1215Thr)
c.2932C>A (p.Pro978Thr)
c.3597+644C>A (n.3597+644C>A)
c.3547+1183C>A (n.3547+1183C>A)
c.2869C>A (p.Pro957Thr)
c.2836C>A (p.Pro946Thr)
c.3049C>A (p.Pro1017Thr)
 gnomAD v4
Xg.53235140A=CA2429770711IQSEC2c.3705T= (p.Pro1235=)
c.1453+643T=
c.962+643T=
c.316+1182T= (n.316+1182T=)
c.514+1182T= (n.514+1182T=)
n.526T=
c.*31T= (n.*31T=)
c.3546T= (p.Pro1182=)
c.3516T= (p.Pro1172=)
c.3642T= (p.Pro1214=)
c.2931T= (p.Pro977=)
c.3597+643T= (n.3597+643T=)
c.3547+1182T= (n.3547+1182T=)
c.2868T= (p.Pro956=)
c.2835T= (p.Pro945=)
c.3048T= (p.Pro1016=)
Xg.53235140A>CCA516674059IQSEC2c.3705T>G (p.Pro1235=)
c.1453+643T>G
c.962+643T>G
c.316+1182T>G (n.316+1182T>G)
c.514+1182T>G (n.514+1182T>G)
n.526T>G
c.*31T>G (n.*31T>G)
c.3546T>G (p.Pro1182=)
c.3516T>G (p.Pro1172=)
c.3642T>G (p.Pro1214=)
c.2931T>G (p.Pro977=)
c.3597+643T>G (n.3597+643T>G)
c.3547+1182T>G (n.3547+1182T>G)
c.2868T>G (p.Pro956=)
c.2835T>G (p.Pro945=)
c.3048T>G (p.Pro1016=)
 ClinVar dbSNP gnomAD v4
Xg.53235140A>GCA516674061IQSEC2c.3705T>C (p.Pro1235=)
c.1453+643T>C
c.962+643T>C
c.316+1182T>C (n.316+1182T>C)
c.514+1182T>C (n.514+1182T>C)
n.526T>C
c.*31T>C (n.*31T>C)
c.3546T>C (p.Pro1182=)
c.3516T>C (p.Pro1172=)
c.3642T>C (p.Pro1214=)
c.2931T>C (p.Pro977=)
c.3597+643T>C (n.3597+643T>C)
c.3547+1182T>C (n.3547+1182T>C)
c.2868T>C (p.Pro956=)
c.2835T>C (p.Pro945=)
c.3048T>C (p.Pro1016=)
 gnomAD v3 gnomAD v4
Xg.53235140A>TCA516674063IQSEC2c.3705T>A (p.Pro1235=)
c.1453+643T>A
c.962+643T>A
c.316+1182T>A (n.316+1182T>A)
c.514+1182T>A (n.514+1182T>A)
n.526T>A
c.*31T>A (n.*31T>A)
c.3546T>A (p.Pro1182=)
c.3516T>A (p.Pro1172=)
c.3642T>A (p.Pro1214=)
c.2931T>A (p.Pro977=)
c.3597+643T>A (n.3597+643T>A)
c.3547+1182T>A (n.3547+1182T>A)
c.2868T>A (p.Pro956=)
c.2835T>A (p.Pro945=)
c.3048T>A (p.Pro1016=)
 gnomAD v4
Xg.53235141G>ACA413142530IQSEC2c.3704C>T (p.Pro1235Leu)
c.1453+642C>T
c.962+642C>T
c.316+1181C>T (n.316+1181C>T)
c.514+1181C>T (n.514+1181C>T)
n.525C>T
c.*30C>T (n.*30C>T)
c.3545C>T (p.Pro1182Leu)
c.3515C>T (p.Pro1172Leu)
c.3641C>T (p.Pro1214Leu)
c.2930C>T (p.Pro977Leu)
c.3597+642C>T (n.3597+642C>T)
c.3547+1181C>T (n.3547+1181C>T)
c.2867C>T (p.Pro956Leu)
c.2834C>T (p.Pro945Leu)
c.3047C>T (p.Pro1016Leu)
Xg.53235141G>CCA413142534IQSEC2c.3704C>G (p.Pro1235Arg)
c.1453+642C>G
c.962+642C>G
c.316+1181C>G (n.316+1181C>G)
c.514+1181C>G (n.514+1181C>G)
n.525C>G
c.*30C>G (n.*30C>G)
c.3545C>G (p.Pro1182Arg)
c.3515C>G (p.Pro1172Arg)
c.3641C>G (p.Pro1214Arg)
c.2930C>G (p.Pro977Arg)
c.3597+642C>G (n.3597+642C>G)
c.3547+1181C>G (n.3547+1181C>G)
c.2867C>G (p.Pro956Arg)
c.2834C>G (p.Pro945Arg)
c.3047C>G (p.Pro1016Arg)
Xg.53235141G>TCA413142538IQSEC2c.3704C>A (p.Pro1235His)
c.1453+642C>A
c.962+642C>A
c.316+1181C>A (n.316+1181C>A)
c.514+1181C>A (n.514+1181C>A)
n.525C>A
c.*30C>A (n.*30C>A)
c.3545C>A (p.Pro1182His)
c.3515C>A (p.Pro1172His)
c.3641C>A (p.Pro1214His)
c.2930C>A (p.Pro977His)
c.3597+642C>A (n.3597+642C>A)
c.3547+1181C>A (n.3547+1181C>A)
c.2867C>A (p.Pro956His)
c.2834C>A (p.Pro945His)
c.3047C>A (p.Pro1016His)
 gnomAD v4
Xg.53235142G>ACA413142546IQSEC2c.3703C>T (p.Pro1235Ser)
c.1453+641C>T
c.962+641C>T
c.316+1180C>T (n.316+1180C>T)
c.514+1180C>T (n.514+1180C>T)
n.524C>T
c.*29C>T (n.*29C>T)
c.3544C>T (p.Pro1182Ser)
c.3514C>T (p.Pro1172Ser)
c.3640C>T (p.Pro1214Ser)
c.2929C>T (p.Pro977Ser)
c.3597+641C>T (n.3597+641C>T)
c.3547+1180C>T (n.3547+1180C>T)
c.2866C>T (p.Pro956Ser)
c.2833C>T (p.Pro945Ser)
c.3046C>T (p.Pro1016Ser)
Xg.53235142G>CCA413142548IQSEC2c.3703C>G (p.Pro1235Ala)
c.1453+641C>G
c.962+641C>G
c.316+1180C>G (n.316+1180C>G)
c.514+1180C>G (n.514+1180C>G)
n.524C>G
c.*29C>G (n.*29C>G)
c.3544C>G (p.Pro1182Ala)
c.3514C>G (p.Pro1172Ala)
c.3640C>G (p.Pro1214Ala)
c.2929C>G (p.Pro977Ala)
c.3597+641C>G (n.3597+641C>G)
c.3547+1180C>G (n.3547+1180C>G)
c.2866C>G (p.Pro956Ala)
c.2833C>G (p.Pro945Ala)
c.3046C>G (p.Pro1016Ala)
Xg.53235142G>TCA413142550IQSEC2c.3703C>A (p.Pro1235Thr)
c.1453+641C>A
c.962+641C>A
c.316+1180C>A (n.316+1180C>A)
c.514+1180C>A (n.514+1180C>A)
n.524C>A
c.*29C>A (n.*29C>A)
c.3544C>A (p.Pro1182Thr)
c.3514C>A (p.Pro1172Thr)
c.3640C>A (p.Pro1214Thr)
c.2929C>A (p.Pro977Thr)
c.3597+641C>A (n.3597+641C>A)
c.3547+1180C>A (n.3547+1180C>A)
c.2866C>A (p.Pro956Thr)
c.2833C>A (p.Pro945Thr)
c.3046C>A (p.Pro1016Thr)
 gnomAD v4
Xg.53235143T>ACA516674065IQSEC2c.3702A>T (p.Pro1234=)
c.1453+640A>T
c.962+640A>T
c.316+1179A>T (n.316+1179A>T)
c.514+1179A>T (n.514+1179A>T)
n.523A>T
c.*28A>T (n.*28A>T)
c.3543A>T (p.Pro1181=)
c.3513A>T (p.Pro1171=)
c.3639A>T (p.Pro1213=)
c.2928A>T (p.Pro976=)
c.3597+640A>T (n.3597+640A>T)
c.3547+1179A>T (n.3547+1179A>T)
c.2865A>T (p.Pro955=)
c.2832A>T (p.Pro944=)
c.3045A>T (p.Pro1015=)
 gnomAD v4
Xg.53235143T>CCA516674067IQSEC2c.3702A>G (p.Pro1234=)
c.1453+640A>G
c.962+640A>G
c.316+1179A>G (n.316+1179A>G)
c.514+1179A>G (n.514+1179A>G)
n.523A>G
c.*28A>G (n.*28A>G)
c.3543A>G (p.Pro1181=)
c.3513A>G (p.Pro1171=)
c.3639A>G (p.Pro1213=)
c.2928A>G (p.Pro976=)
c.3597+640A>G (n.3597+640A>G)
c.3547+1179A>G (n.3547+1179A>G)
c.2865A>G (p.Pro955=)
c.2832A>G (p.Pro944=)
c.3045A>G (p.Pro1015=)
 gnomAD v4
Xg.53235143T>GCA516674068IQSEC2c.3702A>C (p.Pro1234=)
c.1453+640A>C
c.962+640A>C
c.316+1179A>C (n.316+1179A>C)
c.514+1179A>C (n.514+1179A>C)
n.523A>C
c.*28A>C (n.*28A>C)
c.3543A>C (p.Pro1181=)
c.3513A>C (p.Pro1171=)
c.3639A>C (p.Pro1213=)
c.2928A>C (p.Pro976=)
c.3597+640A>C (n.3597+640A>C)
c.3547+1179A>C (n.3547+1179A>C)
c.2865A>C (p.Pro955=)
c.2832A>C (p.Pro944=)
c.3045A>C (p.Pro1015=)
 ClinVar gnomAD v3 gnomAD v4
Xg.53235144G>ACA413142577IQSEC2c.3701C>T (p.Pro1234Leu)
c.1453+639C>T
c.962+639C>T
c.316+1178C>T (n.316+1178C>T)
c.514+1178C>T (n.514+1178C>T)
n.522C>T
c.*27C>T (n.*27C>T)
c.3542C>T (p.Pro1181Leu)
c.3512C>T (p.Pro1171Leu)
c.3638C>T (p.Pro1213Leu)
c.2927C>T (p.Pro976Leu)
c.3597+639C>T (n.3597+639C>T)
c.3547+1178C>T (n.3547+1178C>T)
c.2864C>T (p.Pro955Leu)
c.2831C>T (p.Pro944Leu)
c.3044C>T (p.Pro1015Leu)
 gnomAD v4
Xg.53235144G>CCA413142573IQSEC2c.3701C>G (p.Pro1234Arg)
c.1453+639C>G
c.962+639C>G
c.316+1178C>G (n.316+1178C>G)
c.514+1178C>G (n.514+1178C>G)
n.522C>G
c.*27C>G (n.*27C>G)
c.3542C>G (p.Pro1181Arg)
c.3512C>G (p.Pro1171Arg)
c.3638C>G (p.Pro1213Arg)
c.2927C>G (p.Pro976Arg)
c.3597+639C>G (n.3597+639C>G)
c.3547+1178C>G (n.3547+1178C>G)
c.2864C>G (p.Pro955Arg)
c.2831C>G (p.Pro944Arg)
c.3044C>G (p.Pro1015Arg)
Xg.53235144G>TCA413142570IQSEC2c.3701C>A (p.Pro1234Gln)
c.1453+639C>A
c.962+639C>A
c.316+1178C>A (n.316+1178C>A)
c.514+1178C>A (n.514+1178C>A)
n.522C>A
c.*27C>A (n.*27C>A)
c.3542C>A (p.Pro1181Gln)
c.3512C>A (p.Pro1171Gln)
c.3638C>A (p.Pro1213Gln)
c.2927C>A (p.Pro976Gln)
c.3597+639C>A (n.3597+639C>A)
c.3547+1178C>A (n.3547+1178C>A)
c.2864C>A (p.Pro955Gln)
c.2831C>A (p.Pro944Gln)
c.3044C>A (p.Pro1015Gln)
 gnomAD v4
Xg.53235145_53235146insGGGCA2693794636IQSEC2c.3701_3702insCCC (p.Pro1234_Pro1235insPro)
c.1453+639_1453+640insCCC
c.962+639_962+640insCCC
c.316+1178_316+1179insCCC (n.316+1178_316+1179insCCC)
c.514+1178_514+1179insCCC (n.514+1178_514+1179insCCC)
n.522_523insCCC
c.*27_*28insCCC (n.*27_*28insCCC)
c.3542_3543insCCC (p.Pro1181_Pro1182insPro)
c.3512_3513insCCC (p.Pro1171_Pro1172insPro)
c.3638_3639insCCC (p.Pro1213_Pro1214insPro)
c.2927_2928insCCC (p.Pro976_Pro977insPro)
c.3597+639_3597+640insCCC (n.3597+639_3597+640insCCC)
c.3547+1178_3547+1179insCCC (n.3547+1178_3547+1179insCCC)
c.2864_2865insCCC (p.Pro955_Pro956insPro)
c.2831_2832insCCC (p.Pro944_Pro945insPro)
c.3044_3045insCCC (p.Pro1015_Pro1016insPro)
 gnomAD v4
Xg.53235145G>ACA10419783IQSEC2c.3700C>T (p.Pro1234Ser)
c.1453+638C>T
c.962+638C>T
c.316+1177C>T (n.316+1177C>T)
c.514+1177C>T (n.514+1177C>T)
n.521C>T
c.*26C>T (n.*26C>T)
c.3541C>T (p.Pro1181Ser)
c.3511C>T (p.Pro1171Ser)
c.3637C>T (p.Pro1213Ser)
c.2926C>T (p.Pro976Ser)
c.3597+638C>T (n.3597+638C>T)
c.3547+1177C>T (n.3547+1177C>T)
c.2863C>T (p.Pro955Ser)
c.2830C>T (p.Pro944Ser)
c.3043C>T (p.Pro1015Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235145G>CCA413142586IQSEC2c.3700C>G (p.Pro1234Ala)
c.1453+638C>G
c.962+638C>G
c.316+1177C>G (n.316+1177C>G)
c.514+1177C>G (n.514+1177C>G)
n.521C>G
c.*26C>G (n.*26C>G)
c.3541C>G (p.Pro1181Ala)
c.3511C>G (p.Pro1171Ala)
c.3637C>G (p.Pro1213Ala)
c.2926C>G (p.Pro976Ala)
c.3597+638C>G (n.3597+638C>G)
c.3547+1177C>G (n.3547+1177C>G)
c.2863C>G (p.Pro955Ala)
c.2830C>G (p.Pro944Ala)
c.3043C>G (p.Pro1015Ala)
 gnomAD v4
Xg.53235145G=CA2429770712IQSEC2c.3700C= (p.Pro1234=)
c.1453+638C=
c.962+638C=
c.316+1177C= (n.316+1177C=)
c.514+1177C= (n.514+1177C=)
n.521C=
c.*26C= (n.*26C=)
c.3541C= (p.Pro1181=)
c.3511C= (p.Pro1171=)
c.3637C= (p.Pro1213=)
c.2926C= (p.Pro976=)
c.3597+638C= (n.3597+638C=)
c.3547+1177C= (n.3547+1177C=)
c.2863C= (p.Pro955=)
c.2830C= (p.Pro944=)
c.3043C= (p.Pro1015=)
Xg.53235145G>TCA413142591IQSEC2c.3700C>A (p.Pro1234Thr)
c.1453+638C>A
c.962+638C>A
c.316+1177C>A (n.316+1177C>A)
c.514+1177C>A (n.514+1177C>A)
n.521C>A
c.*26C>A (n.*26C>A)
c.3541C>A (p.Pro1181Thr)
c.3511C>A (p.Pro1171Thr)
c.3637C>A (p.Pro1213Thr)
c.2926C>A (p.Pro976Thr)
c.3597+638C>A (n.3597+638C>A)
c.3547+1177C>A (n.3547+1177C>A)
c.2863C>A (p.Pro955Thr)
c.2830C>A (p.Pro944Thr)
c.3043C>A (p.Pro1015Thr)
 gnomAD v4
Xg.53235146C>ACA413142596IQSEC2c.3699G>T (p.Met1233Ile)
c.1453+637G>T
c.962+637G>T
c.316+1176G>T (n.316+1176G>T)
c.514+1176G>T (n.514+1176G>T)
n.520G>T
c.*25G>T (n.*25G>T)
c.3540G>T (p.Met1180Ile)
c.3510G>T (p.Met1170Ile)
c.3636G>T (p.Met1212Ile)
c.2925G>T (p.Met975Ile)
c.3597+637G>T (n.3597+637G>T)
c.3547+1176G>T (n.3547+1176G>T)
c.2862G>T (p.Met954Ile)
c.2829G>T (p.Met943Ile)
c.3042G>T (p.Met1014Ile)
 dbSNP
Xg.53235146C=CA2429770713IQSEC2c.3699G= (p.Met1233=)
c.1453+637G=
c.962+637G=
c.316+1176G= (n.316+1176G=)
c.514+1176G= (n.514+1176G=)
n.520G=
c.*25G= (n.*25G=)
c.3540G= (p.Met1180=)
c.3510G= (p.Met1170=)
c.3636G= (p.Met1212=)
c.2925G= (p.Met975=)
c.3597+637G= (n.3597+637G=)
c.3547+1176G= (n.3547+1176G=)
c.2862G= (p.Met954=)
c.2829G= (p.Met943=)
c.3042G= (p.Met1014=)
Xg.53235146C>GCA413142597IQSEC2c.3699G>C (p.Met1233Ile)
c.1453+637G>C
c.962+637G>C
c.316+1176G>C (n.316+1176G>C)
c.514+1176G>C (n.514+1176G>C)
n.520G>C
c.*25G>C (n.*25G>C)
c.3540G>C (p.Met1180Ile)
c.3510G>C (p.Met1170Ile)
c.3636G>C (p.Met1212Ile)
c.2925G>C (p.Met975Ile)
c.3597+637G>C (n.3597+637G>C)
c.3547+1176G>C (n.3547+1176G>C)
c.2862G>C (p.Met954Ile)
c.2829G>C (p.Met943Ile)
c.3042G>C (p.Met1014Ile)
Xg.53235146C>TCA413142598IQSEC2c.3699G>A (p.Met1233Ile)
c.1453+637G>A
c.962+637G>A
c.316+1176G>A (n.316+1176G>A)
c.514+1176G>A (n.514+1176G>A)
n.520G>A
c.*25G>A (n.*25G>A)
c.3540G>A (p.Met1180Ile)
c.3510G>A (p.Met1170Ile)
c.3636G>A (p.Met1212Ile)
c.2925G>A (p.Met975Ile)
c.3597+637G>A (n.3597+637G>A)
c.3547+1176G>A (n.3547+1176G>A)
c.2862G>A (p.Met954Ile)
c.2829G>A (p.Met943Ile)
c.3042G>A (p.Met1014Ile)
 gnomAD v4
Xg.53235147A=CA2429770714IQSEC2c.3698T= (p.Met1233=)
c.1453+636T=
c.962+636T=
c.316+1175T= (n.316+1175T=)
c.514+1175T= (n.514+1175T=)
n.519T=
c.*24T= (n.*24T=)
c.3539T= (p.Met1180=)
c.3509T= (p.Met1170=)
c.3635T= (p.Met1212=)
c.2924T= (p.Met975=)
c.3597+636T= (n.3597+636T=)
c.3547+1175T= (n.3547+1175T=)
c.2861T= (p.Met954=)
c.2828T= (p.Met943=)
c.3041T= (p.Met1014=)
Xg.53235147A>CCA413142602IQSEC2c.3698T>G (p.Met1233Arg)
c.1453+636T>G
c.962+636T>G
c.316+1175T>G (n.316+1175T>G)
c.514+1175T>G (n.514+1175T>G)
n.519T>G
c.*24T>G (n.*24T>G)
c.3539T>G (p.Met1180Arg)
c.3509T>G (p.Met1170Arg)
c.3635T>G (p.Met1212Arg)
c.2924T>G (p.Met975Arg)
c.3597+636T>G (n.3597+636T>G)
c.3547+1175T>G (n.3547+1175T>G)
c.2861T>G (p.Met954Arg)
c.2828T>G (p.Met943Arg)
c.3041T>G (p.Met1014Arg)
Xg.53235147A>GCA413142606IQSEC2c.3698T>C (p.Met1233Thr)
c.1453+636T>C
c.962+636T>C
c.316+1175T>C (n.316+1175T>C)
c.514+1175T>C (n.514+1175T>C)
n.519T>C
c.*24T>C (n.*24T>C)
c.3539T>C (p.Met1180Thr)
c.3509T>C (p.Met1170Thr)
c.3635T>C (p.Met1212Thr)
c.2924T>C (p.Met975Thr)
c.3597+636T>C (n.3597+636T>C)
c.3547+1175T>C (n.3547+1175T>C)
c.2861T>C (p.Met954Thr)
c.2828T>C (p.Met943Thr)
c.3041T>C (p.Met1014Thr)
 gnomAD v4
Xg.53235147A>TCA413142608IQSEC2c.3698T>A (p.Met1233Lys)
c.1453+636T>A
c.962+636T>A
c.316+1175T>A (n.316+1175T>A)
c.514+1175T>A (n.514+1175T>A)
n.519T>A
c.*24T>A (n.*24T>A)
c.3539T>A (p.Met1180Lys)
c.3509T>A (p.Met1170Lys)
c.3635T>A (p.Met1212Lys)
c.2924T>A (p.Met975Lys)
c.3597+636T>A (n.3597+636T>A)
c.3547+1175T>A (n.3547+1175T>A)
c.2861T>A (p.Met954Lys)
c.2828T>A (p.Met943Lys)
c.3041T>A (p.Met1014Lys)
 dbSNP
Xg.53235148T>ACA413142611IQSEC2c.3697A>T (p.Met1233Leu)
c.1453+635A>T
c.962+635A>T
c.316+1174A>T (n.316+1174A>T)
c.514+1174A>T (n.514+1174A>T)
n.518A>T
c.*23A>T (n.*23A>T)
c.3538A>T (p.Met1180Leu)
c.3508A>T (p.Met1170Leu)
c.3634A>T (p.Met1212Leu)
c.2923A>T (p.Met975Leu)
c.3597+635A>T (n.3597+635A>T)
c.3547+1174A>T (n.3547+1174A>T)
c.2860A>T (p.Met954Leu)
c.2827A>T (p.Met943Leu)
c.3040A>T (p.Met1014Leu)
 gnomAD v4
Xg.53235148T>CCA413142614IQSEC2c.3697A>G (p.Met1233Val)
c.1453+635A>G
c.962+635A>G
c.316+1174A>G (n.316+1174A>G)
c.514+1174A>G (n.514+1174A>G)
n.518A>G
c.*23A>G (n.*23A>G)
c.3538A>G (p.Met1180Val)
c.3508A>G (p.Met1170Val)
c.3634A>G (p.Met1212Val)
c.2923A>G (p.Met975Val)
c.3597+635A>G (n.3597+635A>G)
c.3547+1174A>G (n.3547+1174A>G)
c.2860A>G (p.Met954Val)
c.2827A>G (p.Met943Val)
c.3040A>G (p.Met1014Val)
Xg.53235148T>GCA413142619IQSEC2c.3697A>C (p.Met1233Leu)
c.1453+635A>C
c.962+635A>C
c.316+1174A>C (n.316+1174A>C)
c.514+1174A>C (n.514+1174A>C)
n.518A>C
c.*23A>C (n.*23A>C)
c.3538A>C (p.Met1180Leu)
c.3508A>C (p.Met1170Leu)
c.3634A>C (p.Met1212Leu)
c.2923A>C (p.Met975Leu)
c.3597+635A>C (n.3597+635A>C)
c.3547+1174A>C (n.3547+1174A>C)
c.2860A>C (p.Met954Leu)
c.2827A>C (p.Met943Leu)
c.3040A>C (p.Met1014Leu)
 gnomAD v4
Xg.53235149C>ACA413142624IQSEC2c.3696G>T (p.Arg1232Ser)
c.1453+634G>T
c.962+634G>T
c.316+1173G>T (n.316+1173G>T)
c.514+1173G>T (n.514+1173G>T)
n.517G>T
c.*22G>T (n.*22G>T)
c.3537G>T (p.Arg1179Ser)
c.3507G>T (p.Arg1169Ser)
c.3633G>T (p.Arg1211Ser)
c.2922G>T (p.Arg974Ser)
c.3597+634G>T (n.3597+634G>T)
c.3547+1173G>T (n.3547+1173G>T)
c.2859G>T (p.Arg953Ser)
c.2826G>T (p.Arg942Ser)
c.3039G>T (p.Arg1013Ser)
 gnomAD v4
Xg.53235149C>GCA413142623IQSEC2c.3696G>C (p.Arg1232Ser)
c.1453+634G>C
c.962+634G>C
c.316+1173G>C (n.316+1173G>C)
c.514+1173G>C (n.514+1173G>C)
n.517G>C
c.*22G>C (n.*22G>C)
c.3537G>C (p.Arg1179Ser)
c.3507G>C (p.Arg1169Ser)
c.3633G>C (p.Arg1211Ser)
c.2922G>C (p.Arg974Ser)
c.3597+634G>C (n.3597+634G>C)
c.3547+1173G>C (n.3547+1173G>C)
c.2859G>C (p.Arg953Ser)
c.2826G>C (p.Arg942Ser)
c.3039G>C (p.Arg1013Ser)
Xg.53235149C>TCA516674076IQSEC2c.3696G>A (p.Arg1232=)
c.1453+634G>A
c.962+634G>A
c.316+1173G>A (n.316+1173G>A)
c.514+1173G>A (n.514+1173G>A)
n.517G>A
c.*22G>A (n.*22G>A)
c.3537G>A (p.Arg1179=)
c.3507G>A (p.Arg1169=)
c.3633G>A (p.Arg1211=)
c.2922G>A (p.Arg974=)
c.3597+634G>A (n.3597+634G>A)
c.3547+1173G>A (n.3547+1173G>A)
c.2859G>A (p.Arg953=)
c.2826G>A (p.Arg942=)
c.3039G>A (p.Arg1013=)
 gnomAD v4
Xg.53235150C>ACA413142635IQSEC2c.3695G>T (p.Arg1232Met)
c.1453+633G>T
c.962+633G>T
c.316+1172G>T (n.316+1172G>T)
c.514+1172G>T (n.514+1172G>T)
n.516G>T
c.*21G>T (n.*21G>T)
c.3536G>T (p.Arg1179Met)
c.3506G>T (p.Arg1169Met)
c.3632G>T (p.Arg1211Met)
c.2921G>T (p.Arg974Met)
c.3597+633G>T (n.3597+633G>T)
c.3547+1172G>T (n.3547+1172G>T)
c.2858G>T (p.Arg953Met)
c.2825G>T (p.Arg942Met)
c.3038G>T (p.Arg1013Met)
 gnomAD v4
Xg.53235150C>GCA413142638IQSEC2c.3695G>C (p.Arg1232Thr)
c.1453+633G>C
c.962+633G>C
c.316+1172G>C (n.316+1172G>C)
c.514+1172G>C (n.514+1172G>C)
n.516G>C
c.*21G>C (n.*21G>C)
c.3536G>C (p.Arg1179Thr)
c.3506G>C (p.Arg1169Thr)
c.3632G>C (p.Arg1211Thr)
c.2921G>C (p.Arg974Thr)
c.3597+633G>C (n.3597+633G>C)
c.3547+1172G>C (n.3547+1172G>C)
c.2858G>C (p.Arg953Thr)
c.2825G>C (p.Arg942Thr)
c.3038G>C (p.Arg1013Thr)
Xg.53235150C>TCA413142640IQSEC2c.3695G>A (p.Arg1232Lys)
c.1453+633G>A
c.962+633G>A
c.316+1172G>A (n.316+1172G>A)
c.514+1172G>A (n.514+1172G>A)
n.516G>A
c.*21G>A (n.*21G>A)
c.3536G>A (p.Arg1179Lys)
c.3506G>A (p.Arg1169Lys)
c.3632G>A (p.Arg1211Lys)
c.2921G>A (p.Arg974Lys)
c.3597+633G>A (n.3597+633G>A)
c.3547+1172G>A (n.3547+1172G>A)
c.2858G>A (p.Arg953Lys)
c.2825G>A (p.Arg942Lys)
c.3038G>A (p.Arg1013Lys)
Xg.53235151T>ACA413142643IQSEC2c.3694A>T (p.Arg1232Trp)
c.1453+632A>T
c.962+632A>T
c.316+1171A>T (n.316+1171A>T)
c.514+1171A>T (n.514+1171A>T)
n.515A>T
c.*20A>T (n.*20A>T)
c.3535A>T (p.Arg1179Trp)
c.3505A>T (p.Arg1169Trp)
c.3631A>T (p.Arg1211Trp)
c.2920A>T (p.Arg974Trp)
c.3597+632A>T (n.3597+632A>T)
c.3547+1171A>T (n.3547+1171A>T)
c.2857A>T (p.Arg953Trp)
c.2824A>T (p.Arg942Trp)
c.3037A>T (p.Arg1013Trp)
Xg.53235151T>CCA413142645IQSEC2c.3694A>G (p.Arg1232Gly)
c.1453+632A>G
c.962+632A>G
c.316+1171A>G (n.316+1171A>G)
c.514+1171A>G (n.514+1171A>G)
n.515A>G
c.*20A>G (n.*20A>G)
c.3535A>G (p.Arg1179Gly)
c.3505A>G (p.Arg1169Gly)
c.3631A>G (p.Arg1211Gly)
c.2920A>G (p.Arg974Gly)
c.3597+632A>G (n.3597+632A>G)
c.3547+1171A>G (n.3547+1171A>G)
c.2857A>G (p.Arg953Gly)
c.2824A>G (p.Arg942Gly)
c.3037A>G (p.Arg1013Gly)
Xg.53235151T>GCA516416129IQSEC2c.3694A>C (p.Arg1232=)
c.1453+632A>C
c.962+632A>C
c.316+1171A>C (n.316+1171A>C)
c.514+1171A>C (n.514+1171A>C)
n.515A>C
c.*20A>C (n.*20A>C)
c.3535A>C (p.Arg1179=)
c.3505A>C (p.Arg1169=)
c.3631A>C (p.Arg1211=)
c.2920A>C (p.Arg974=)
c.3597+632A>C (n.3597+632A>C)
c.3547+1171A>C (n.3547+1171A>C)
c.2857A>C (p.Arg953=)
c.2824A>C (p.Arg942=)
c.3037A>C (p.Arg1013=)
Xg.53235152C>ACA413142649IQSEC2c.3693G>T (p.Gln1231His)
c.1453+631G>T
c.962+631G>T
c.316+1170G>T (n.316+1170G>T)
c.514+1170G>T (n.514+1170G>T)
n.514G>T
c.*19G>T (n.*19G>T)
c.3534G>T (p.Gln1178His)
c.3504G>T (p.Gln1168His)
c.3630G>T (p.Gln1210His)
c.2919G>T (p.Gln973His)
c.3597+631G>T (n.3597+631G>T)
c.3547+1170G>T (n.3547+1170G>T)
c.2856G>T (p.Gln952His)
c.2823G>T (p.Gln941His)
c.3036G>T (p.Gln1012His)
 gnomAD v4
Xg.53235152C>GCA413142651IQSEC2c.3693G>C (p.Gln1231His)
c.1453+631G>C
c.962+631G>C
c.316+1170G>C (n.316+1170G>C)
c.514+1170G>C (n.514+1170G>C)
n.514G>C
c.*19G>C (n.*19G>C)
c.3534G>C (p.Gln1178His)
c.3504G>C (p.Gln1168His)
c.3630G>C (p.Gln1210His)
c.2919G>C (p.Gln973His)
c.3597+631G>C (n.3597+631G>C)
c.3547+1170G>C (n.3547+1170G>C)
c.2856G>C (p.Gln952His)
c.2823G>C (p.Gln941His)
c.3036G>C (p.Gln1012His)
Xg.53235152C>TCA516416137IQSEC2c.3693G>A (p.Gln1231=)
c.1453+631G>A
c.962+631G>A
c.316+1170G>A (n.316+1170G>A)
c.514+1170G>A (n.514+1170G>A)
n.514G>A
c.*19G>A (n.*19G>A)
c.3534G>A (p.Gln1178=)
c.3504G>A (p.Gln1168=)
c.3630G>A (p.Gln1210=)
c.2919G>A (p.Gln973=)
c.3597+631G>A (n.3597+631G>A)
c.3547+1170G>A (n.3547+1170G>A)
c.2856G>A (p.Gln952=)
c.2823G>A (p.Gln941=)
c.3036G>A (p.Gln1012=)
Xg.53235153T>ACA413142654IQSEC2c.3692A>T (p.Gln1231Leu)
c.1453+630A>T
c.962+630A>T
c.316+1169A>T (n.316+1169A>T)
c.514+1169A>T (n.514+1169A>T)
n.513A>T
c.*18A>T (n.*18A>T)
c.3533A>T (p.Gln1178Leu)
c.3503A>T (p.Gln1168Leu)
c.3629A>T (p.Gln1210Leu)
c.2918A>T (p.Gln973Leu)
c.3597+630A>T (n.3597+630A>T)
c.3547+1169A>T (n.3547+1169A>T)
c.2855A>T (p.Gln952Leu)
c.2822A>T (p.Gln941Leu)
c.3035A>T (p.Gln1012Leu)
Xg.53235153T>CCA413142657IQSEC2c.3692A>G (p.Gln1231Arg)
c.1453+630A>G
c.962+630A>G
c.316+1169A>G (n.316+1169A>G)
c.514+1169A>G (n.514+1169A>G)
n.513A>G
c.*18A>G (n.*18A>G)
c.3533A>G (p.Gln1178Arg)
c.3503A>G (p.Gln1168Arg)
c.3629A>G (p.Gln1210Arg)
c.2918A>G (p.Gln973Arg)
c.3597+630A>G (n.3597+630A>G)
c.3547+1169A>G (n.3547+1169A>G)
c.2855A>G (p.Gln952Arg)
c.2822A>G (p.Gln941Arg)
c.3035A>G (p.Gln1012Arg)
 ClinVar dbSNP
Xg.53235153T>GCA413142658IQSEC2c.3692A>C (p.Gln1231Pro)
c.1453+630A>C
c.962+630A>C
c.316+1169A>C (n.316+1169A>C)
c.514+1169A>C (n.514+1169A>C)
n.513A>C
c.*18A>C (n.*18A>C)
c.3533A>C (p.Gln1178Pro)
c.3503A>C (p.Gln1168Pro)
c.3629A>C (p.Gln1210Pro)
c.2918A>C (p.Gln973Pro)
c.3597+630A>C (n.3597+630A>C)
c.3547+1169A>C (n.3547+1169A>C)
c.2855A>C (p.Gln952Pro)
c.2822A>C (p.Gln941Pro)
c.3035A>C (p.Gln1012Pro)
 gnomAD v4
Xg.53235154G>ACA413142662IQSEC2c.3691C>T (p.Gln1231Ter)
c.1453+629C>T
c.962+629C>T
c.316+1168C>T (n.316+1168C>T)
c.514+1168C>T (n.514+1168C>T)
n.512C>T
c.*17C>T (n.*17C>T)
c.3532C>T (p.Gln1178Ter)
c.3502C>T (p.Gln1168Ter)
c.3628C>T (p.Gln1210Ter)
c.2917C>T (p.Gln973Ter)
c.3597+629C>T (n.3597+629C>T)
c.3547+1168C>T (n.3547+1168C>T)
c.2854C>T (p.Gln952Ter)
c.2821C>T (p.Gln941Ter)
c.3034C>T (p.Gln1012Ter)
Xg.53235154G>CCA413142664IQSEC2c.3691C>G (p.Gln1231Glu)
c.1453+629C>G
c.962+629C>G
c.316+1168C>G (n.316+1168C>G)
c.514+1168C>G (n.514+1168C>G)
n.512C>G
c.*17C>G (n.*17C>G)
c.3532C>G (p.Gln1178Glu)
c.3502C>G (p.Gln1168Glu)
c.3628C>G (p.Gln1210Glu)
c.2917C>G (p.Gln973Glu)
c.3597+629C>G (n.3597+629C>G)
c.3547+1168C>G (n.3547+1168C>G)
c.2854C>G (p.Gln952Glu)
c.2821C>G (p.Gln941Glu)
c.3034C>G (p.Gln1012Glu)
Xg.53235154G>TCA413142667IQSEC2c.3691C>A (p.Gln1231Lys)
c.1453+629C>A
c.962+629C>A
c.316+1168C>A (n.316+1168C>A)
c.514+1168C>A (n.514+1168C>A)
n.512C>A
c.*17C>A (n.*17C>A)
c.3532C>A (p.Gln1178Lys)
c.3502C>A (p.Gln1168Lys)
c.3628C>A (p.Gln1210Lys)
c.2917C>A (p.Gln973Lys)
c.3597+629C>A (n.3597+629C>A)
c.3547+1168C>A (n.3547+1168C>A)
c.2854C>A (p.Gln952Lys)
c.2821C>A (p.Gln941Lys)
c.3034C>A (p.Gln1012Lys)
 gnomAD v4
Xg.53235155G>ACA516416145IQSEC2c.3690C>T (p.His1230=)
c.1453+628C>T
c.962+628C>T
c.316+1167C>T (n.316+1167C>T)
c.514+1167C>T (n.514+1167C>T)
n.511C>T
c.*16C>T (n.*16C>T)
c.3531C>T (p.His1177=)
c.3501C>T (p.His1167=)
c.3627C>T (p.His1209=)
c.2916C>T (p.His972=)
c.3597+628C>T (n.3597+628C>T)
c.3547+1167C>T (n.3547+1167C>T)
c.2853C>T (p.His951=)
c.2820C>T (p.His940=)
c.3033C>T (p.His1011=)
 gnomAD v4
Xg.53235155G>CCA413142677IQSEC2c.3690C>G (p.His1230Gln)
c.1453+628C>G
c.962+628C>G
c.316+1167C>G (n.316+1167C>G)
c.514+1167C>G (n.514+1167C>G)
n.511C>G
c.*16C>G (n.*16C>G)
c.3531C>G (p.His1177Gln)
c.3501C>G (p.His1167Gln)
c.3627C>G (p.His1209Gln)
c.2916C>G (p.His972Gln)
c.3597+628C>G (n.3597+628C>G)
c.3547+1167C>G (n.3547+1167C>G)
c.2853C>G (p.His951Gln)
c.2820C>G (p.His940Gln)
c.3033C>G (p.His1011Gln)
Xg.53235155G>TCA413142673IQSEC2c.3690C>A (p.His1230Gln)
c.1453+628C>A
c.962+628C>A
c.316+1167C>A (n.316+1167C>A)
c.514+1167C>A (n.514+1167C>A)
n.511C>A
c.*16C>A (n.*16C>A)
c.3531C>A (p.His1177Gln)
c.3501C>A (p.His1167Gln)
c.3627C>A (p.His1209Gln)
c.2916C>A (p.His972Gln)
c.3597+628C>A (n.3597+628C>A)
c.3547+1167C>A (n.3547+1167C>A)
c.2853C>A (p.His951Gln)
c.2820C>A (p.His940Gln)
c.3033C>A (p.His1011Gln)
Xg.53235156T>ACA413142681IQSEC2c.3689A>T (p.His1230Leu)
c.1453+627A>T
c.962+627A>T
c.316+1166A>T (n.316+1166A>T)
c.514+1166A>T (n.514+1166A>T)
n.510A>T
c.*15A>T (n.*15A>T)
c.3530A>T (p.His1177Leu)
c.3500A>T (p.His1167Leu)
c.3626A>T (p.His1209Leu)
c.2915A>T (p.His972Leu)
c.3597+627A>T (n.3597+627A>T)
c.3547+1166A>T (n.3547+1166A>T)
c.2852A>T (p.His951Leu)
c.2819A>T (p.His940Leu)
c.3032A>T (p.His1011Leu)
Xg.53235156T>CCA413142691IQSEC2c.3689A>G (p.His1230Arg)
c.1453+627A>G
c.962+627A>G
c.316+1166A>G (n.316+1166A>G)
c.514+1166A>G (n.514+1166A>G)
n.510A>G
c.*15A>G (n.*15A>G)
c.3530A>G (p.His1177Arg)
c.3500A>G (p.His1167Arg)
c.3626A>G (p.His1209Arg)
c.2915A>G (p.His972Arg)
c.3597+627A>G (n.3597+627A>G)
c.3547+1166A>G (n.3547+1166A>G)
c.2852A>G (p.His951Arg)
c.2819A>G (p.His940Arg)
c.3032A>G (p.His1011Arg)
Xg.53235156T>GCA413142687IQSEC2c.3689A>C (p.His1230Pro)
c.1453+627A>C
c.962+627A>C
c.316+1166A>C (n.316+1166A>C)
c.514+1166A>C (n.514+1166A>C)
n.510A>C
c.*15A>C (n.*15A>C)
c.3530A>C (p.His1177Pro)
c.3500A>C (p.His1167Pro)
c.3626A>C (p.His1209Pro)
c.2915A>C (p.His972Pro)
c.3597+627A>C (n.3597+627A>C)
c.3547+1166A>C (n.3547+1166A>C)
c.2852A>C (p.His951Pro)
c.2819A>C (p.His940Pro)
c.3032A>C (p.His1011Pro)
 gnomAD v3 gnomAD v4
Xg.53235157G>ACA413142697IQSEC2c.3688C>T (p.His1230Tyr)
c.1453+626C>T
c.962+626C>T
c.316+1165C>T (n.316+1165C>T)
c.514+1165C>T (n.514+1165C>T)
n.509C>T
c.*14C>T (n.*14C>T)
c.3529C>T (p.His1177Tyr)
c.3499C>T (p.His1167Tyr)
c.3625C>T (p.His1209Tyr)
c.2914C>T (p.His972Tyr)
c.3597+626C>T (n.3597+626C>T)
c.3547+1165C>T (n.3547+1165C>T)
c.2851C>T (p.His951Tyr)
c.2818C>T (p.His940Tyr)
c.3031C>T (p.His1011Tyr)
Xg.53235157G>CCA413142706IQSEC2c.3688C>G (p.His1230Asp)
c.1453+626C>G
c.962+626C>G
c.316+1165C>G (n.316+1165C>G)
c.514+1165C>G (n.514+1165C>G)
n.509C>G
c.*14C>G (n.*14C>G)
c.3529C>G (p.His1177Asp)
c.3499C>G (p.His1167Asp)
c.3625C>G (p.His1209Asp)
c.2914C>G (p.His972Asp)
c.3597+626C>G (n.3597+626C>G)
c.3547+1165C>G (n.3547+1165C>G)
c.2851C>G (p.His951Asp)
c.2818C>G (p.His940Asp)
c.3031C>G (p.His1011Asp)
Xg.53235157G>TCA413142700IQSEC2c.3688C>A (p.His1230Asn)
c.1453+626C>A
c.962+626C>A
c.316+1165C>A (n.316+1165C>A)
c.514+1165C>A (n.514+1165C>A)
n.509C>A
c.*14C>A (n.*14C>A)
c.3529C>A (p.His1177Asn)
c.3499C>A (p.His1167Asn)
c.3625C>A (p.His1209Asn)
c.2914C>A (p.His972Asn)
c.3597+626C>A (n.3597+626C>A)
c.3547+1165C>A (n.3547+1165C>A)
c.2851C>A (p.His951Asn)
c.2818C>A (p.His940Asn)
c.3031C>A (p.His1011Asn)
 gnomAD v4
Xg.53235158A>CCA516416164IQSEC2c.3687T>G (p.Pro1229=)
c.1453+625T>G
c.962+625T>G
c.316+1164T>G (n.316+1164T>G)
c.514+1164T>G (n.514+1164T>G)
n.508T>G
c.*13T>G (n.*13T>G)
c.3528T>G (p.Pro1176=)
c.3498T>G (p.Pro1166=)
c.3624T>G (p.Pro1208=)
c.2913T>G (p.Pro971=)
c.3597+625T>G (n.3597+625T>G)
c.3547+1164T>G (n.3547+1164T>G)
c.2850T>G (p.Pro950=)
c.2817T>G (p.Pro939=)
c.3030T>G (p.Pro1010=)
Xg.53235158A>GCA516416166IQSEC2c.3687T>C (p.Pro1229=)
c.1453+625T>C
c.962+625T>C
c.316+1164T>C (n.316+1164T>C)
c.514+1164T>C (n.514+1164T>C)
n.508T>C
c.*13T>C (n.*13T>C)
c.3528T>C (p.Pro1176=)
c.3498T>C (p.Pro1166=)
c.3624T>C (p.Pro1208=)
c.2913T>C (p.Pro971=)
c.3597+625T>C (n.3597+625T>C)
c.3547+1164T>C (n.3547+1164T>C)
c.2850T>C (p.Pro950=)
c.2817T>C (p.Pro939=)
c.3030T>C (p.Pro1010=)
Xg.53235158A>TCA516416169IQSEC2c.3687T>A (p.Pro1229=)
c.1453+625T>A
c.962+625T>A
c.316+1164T>A (n.316+1164T>A)
c.514+1164T>A (n.514+1164T>A)
n.508T>A
c.*13T>A (n.*13T>A)
c.3528T>A (p.Pro1176=)
c.3498T>A (p.Pro1166=)
c.3624T>A (p.Pro1208=)
c.2913T>A (p.Pro971=)
c.3597+625T>A (n.3597+625T>A)
c.3547+1164T>A (n.3547+1164T>A)
c.2850T>A (p.Pro950=)
c.2817T>A (p.Pro939=)
c.3030T>A (p.Pro1010=)
 gnomAD v4
Xg.53235159G>ACA413142710IQSEC2c.3686C>T (p.Pro1229Leu)
c.1453+624C>T
c.962+624C>T
c.316+1163C>T (n.316+1163C>T)
c.514+1163C>T (n.514+1163C>T)
n.507C>T
c.*12C>T (n.*12C>T)
c.3527C>T (p.Pro1176Leu)
c.3497C>T (p.Pro1166Leu)
c.3623C>T (p.Pro1208Leu)
c.2912C>T (p.Pro971Leu)
c.3597+624C>T (n.3597+624C>T)
c.3547+1163C>T (n.3547+1163C>T)
c.2849C>T (p.Pro950Leu)
c.2816C>T (p.Pro939Leu)
c.3029C>T (p.Pro1010Leu)
Xg.53235159G>CCA413142713IQSEC2c.3686C>G (p.Pro1229Arg)
c.1453+624C>G
c.962+624C>G
c.316+1163C>G (n.316+1163C>G)
c.514+1163C>G (n.514+1163C>G)
n.507C>G
c.*12C>G (n.*12C>G)
c.3527C>G (p.Pro1176Arg)
c.3497C>G (p.Pro1166Arg)
c.3623C>G (p.Pro1208Arg)
c.2912C>G (p.Pro971Arg)
c.3597+624C>G (n.3597+624C>G)
c.3547+1163C>G (n.3547+1163C>G)
c.2849C>G (p.Pro950Arg)
c.2816C>G (p.Pro939Arg)
c.3029C>G (p.Pro1010Arg)
Xg.53235159G>TCA413142717IQSEC2c.3686C>A (p.Pro1229His)
c.1453+624C>A
c.962+624C>A
c.316+1163C>A (n.316+1163C>A)
c.514+1163C>A (n.514+1163C>A)
n.507C>A
c.*12C>A (n.*12C>A)
c.3527C>A (p.Pro1176His)
c.3497C>A (p.Pro1166His)
c.3623C>A (p.Pro1208His)
c.2912C>A (p.Pro971His)
c.3597+624C>A (n.3597+624C>A)
c.3547+1163C>A (n.3547+1163C>A)
c.2849C>A (p.Pro950His)
c.2816C>A (p.Pro939His)
c.3029C>A (p.Pro1010His)
 gnomAD v4
Xg.53235160G>ACA413142721IQSEC2c.3685C>T (p.Pro1229Ser)
c.1453+623C>T
c.962+623C>T
c.316+1162C>T (n.316+1162C>T)
c.514+1162C>T (n.514+1162C>T)
n.506C>T
c.*11C>T (n.*11C>T)
c.3526C>T (p.Pro1176Ser)
c.3496C>T (p.Pro1166Ser)
c.3622C>T (p.Pro1208Ser)
c.2911C>T (p.Pro971Ser)
c.3597+623C>T (n.3597+623C>T)
c.3547+1162C>T (n.3547+1162C>T)
c.2848C>T (p.Pro950Ser)
c.2815C>T (p.Pro939Ser)
c.3028C>T (p.Pro1010Ser)
Xg.53235160G>CCA413142724IQSEC2c.3685C>G (p.Pro1229Ala)
c.1453+623C>G
c.962+623C>G
c.316+1162C>G (n.316+1162C>G)
c.514+1162C>G (n.514+1162C>G)
n.506C>G
c.*11C>G (n.*11C>G)
c.3526C>G (p.Pro1176Ala)
c.3496C>G (p.Pro1166Ala)
c.3622C>G (p.Pro1208Ala)
c.2911C>G (p.Pro971Ala)
c.3597+623C>G (n.3597+623C>G)
c.3547+1162C>G (n.3547+1162C>G)
c.2848C>G (p.Pro950Ala)
c.2815C>G (p.Pro939Ala)
c.3028C>G (p.Pro1010Ala)
Xg.53235160G>TCA413142728IQSEC2c.3685C>A (p.Pro1229Thr)
c.1453+623C>A
c.962+623C>A
c.316+1162C>A (n.316+1162C>A)
c.514+1162C>A (n.514+1162C>A)
n.506C>A
c.*11C>A (n.*11C>A)
c.3526C>A (p.Pro1176Thr)
c.3496C>A (p.Pro1166Thr)
c.3622C>A (p.Pro1208Thr)
c.2911C>A (p.Pro971Thr)
c.3597+623C>A (n.3597+623C>A)
c.3547+1162C>A (n.3547+1162C>A)
c.2848C>A (p.Pro950Thr)
c.2815C>A (p.Pro939Thr)
c.3028C>A (p.Pro1010Thr)
Xg.53235161G>ACA516416198IQSEC2c.3684C>T (p.Arg1228=)
c.1453+622C>T
c.962+622C>T
c.316+1161C>T (n.316+1161C>T)
c.514+1161C>T (n.514+1161C>T)
n.505C>T
c.*10C>T (n.*10C>T)
c.3525C>T (p.Arg1175=)
c.3495C>T (p.Arg1165=)
c.3621C>T (p.Arg1207=)
c.2910C>T (p.Arg970=)
c.3597+622C>T (n.3597+622C>T)
c.3547+1161C>T (n.3547+1161C>T)
c.2847C>T (p.Arg949=)
c.2814C>T (p.Arg938=)
c.3027C>T (p.Arg1009=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53235161G>CCA516416186IQSEC2c.3684C>G (p.Arg1228=)
c.1453+622C>G
c.962+622C>G
c.316+1161C>G (n.316+1161C>G)
c.514+1161C>G (n.514+1161C>G)
n.505C>G
c.*10C>G (n.*10C>G)
c.3525C>G (p.Arg1175=)
c.3495C>G (p.Arg1165=)
c.3621C>G (p.Arg1207=)
c.2910C>G (p.Arg970=)
c.3597+622C>G (n.3597+622C>G)
c.3547+1161C>G (n.3547+1161C>G)
c.2847C>G (p.Arg949=)
c.2814C>G (p.Arg938=)
c.3027C>G (p.Arg1009=)
Xg.53235161G>TCA516416195IQSEC2c.3684C>A (p.Arg1228=)
c.1453+622C>A
c.962+622C>A
c.316+1161C>A (n.316+1161C>A)
c.514+1161C>A (n.514+1161C>A)
n.505C>A
c.*10C>A (n.*10C>A)
c.3525C>A (p.Arg1175=)
c.3495C>A (p.Arg1165=)
c.3621C>A (p.Arg1207=)
c.2910C>A (p.Arg970=)
c.3597+622C>A (n.3597+622C>A)
c.3547+1161C>A (n.3547+1161C>A)
c.2847C>A (p.Arg949=)
c.2814C>A (p.Arg938=)
c.3027C>A (p.Arg1009=)
 gnomAD v4
Xg.53235162C>ACA413142735IQSEC2c.3683G>T (p.Arg1228Leu)
c.1453+621G>T
c.962+621G>T
c.316+1160G>T (n.316+1160G>T)
c.514+1160G>T (n.514+1160G>T)
n.504G>T
c.*9G>T (n.*9G>T)
c.3524G>T (p.Arg1175Leu)
c.3494G>T (p.Arg1165Leu)
c.3620G>T (p.Arg1207Leu)
c.2909G>T (p.Arg970Leu)
c.3597+621G>T (n.3597+621G>T)
c.3547+1160G>T (n.3547+1160G>T)
c.2846G>T (p.Arg949Leu)
c.2813G>T (p.Arg938Leu)
c.3026G>T (p.Arg1009Leu)
Xg.53235162C=CA2429770715IQSEC2c.3683G= (p.Arg1228=)
c.1453+621G=
c.962+621G=
c.316+1160G= (n.316+1160G=)
c.514+1160G= (n.514+1160G=)
n.504G=
c.*9G= (n.*9G=)
c.3524G= (p.Arg1175=)
c.3494G= (p.Arg1165=)
c.3620G= (p.Arg1207=)
c.2909G= (p.Arg970=)
c.3597+621G= (n.3597+621G=)
c.3547+1160G= (n.3547+1160G=)
c.2846G= (p.Arg949=)
c.2813G= (p.Arg938=)
c.3026G= (p.Arg1009=)
Xg.53235162C>GCA413142738IQSEC2c.3683G>C (p.Arg1228Pro)
c.1453+621G>C
c.962+621G>C
c.316+1160G>C (n.316+1160G>C)
c.514+1160G>C (n.514+1160G>C)
n.504G>C
c.*9G>C (n.*9G>C)
c.3524G>C (p.Arg1175Pro)
c.3494G>C (p.Arg1165Pro)
c.3620G>C (p.Arg1207Pro)
c.2909G>C (p.Arg970Pro)
c.3597+621G>C (n.3597+621G>C)
c.3547+1160G>C (n.3547+1160G>C)
c.2846G>C (p.Arg949Pro)
c.2813G>C (p.Arg938Pro)
c.3026G>C (p.Arg1009Pro)
Xg.53235162C>TCA413142742IQSEC2c.3683G>A (p.Arg1228His)
c.1453+621G>A
c.962+621G>A
c.316+1160G>A (n.316+1160G>A)
c.514+1160G>A (n.514+1160G>A)
n.504G>A
c.*9G>A (n.*9G>A)
c.3524G>A (p.Arg1175His)
c.3494G>A (p.Arg1165His)
c.3620G>A (p.Arg1207His)
c.2909G>A (p.Arg970His)
c.3597+621G>A (n.3597+621G>A)
c.3547+1160G>A (n.3547+1160G>A)
c.2846G>A (p.Arg949His)
c.2813G>A (p.Arg938His)
c.3026G>A (p.Arg1009His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235163G>ACA413142753IQSEC2c.3682C>T (p.Arg1228Cys)
c.1453+620C>T
c.962+620C>T
c.316+1159C>T (n.316+1159C>T)
c.514+1159C>T (n.514+1159C>T)
n.503C>T
c.*8C>T (n.*8C>T)
c.3523C>T (p.Arg1175Cys)
c.3493C>T (p.Arg1165Cys)
c.3619C>T (p.Arg1207Cys)
c.2908C>T (p.Arg970Cys)
c.3597+620C>T (n.3597+620C>T)
c.3547+1159C>T (n.3547+1159C>T)
c.2845C>T (p.Arg949Cys)
c.2812C>T (p.Arg938Cys)
c.3025C>T (p.Arg1009Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53235163G>CCA413142756IQSEC2c.3682C>G (p.Arg1228Gly)
c.1453+620C>G
c.962+620C>G
c.316+1159C>G (n.316+1159C>G)
c.514+1159C>G (n.514+1159C>G)
n.503C>G
c.*8C>G (n.*8C>G)
c.3523C>G (p.Arg1175Gly)
c.3493C>G (p.Arg1165Gly)
c.3619C>G (p.Arg1207Gly)
c.2908C>G (p.Arg970Gly)
c.3597+620C>G (n.3597+620C>G)
c.3547+1159C>G (n.3547+1159C>G)
c.2845C>G (p.Arg949Gly)
c.2812C>G (p.Arg938Gly)
c.3025C>G (p.Arg1009Gly)
Xg.53235163G=CA2429770716IQSEC2c.3682C= (p.Arg1228=)
c.1453+620C=
c.962+620C=
c.316+1159C= (n.316+1159C=)
c.514+1159C= (n.514+1159C=)
n.503C=
c.*8C= (n.*8C=)
c.3523C= (p.Arg1175=)
c.3493C= (p.Arg1165=)
c.3619C= (p.Arg1207=)
c.2908C= (p.Arg970=)
c.3597+620C= (n.3597+620C=)
c.3547+1159C= (n.3547+1159C=)
c.2845C= (p.Arg949=)
c.2812C= (p.Arg938=)
c.3025C= (p.Arg1009=)
Xg.53235163G>TCA413142760IQSEC2c.3682C>A (p.Arg1228Ser)
c.1453+620C>A
c.962+620C>A
c.316+1159C>A (n.316+1159C>A)
c.514+1159C>A (n.514+1159C>A)
n.503C>A
c.*8C>A (n.*8C>A)
c.3523C>A (p.Arg1175Ser)
c.3493C>A (p.Arg1165Ser)
c.3619C>A (p.Arg1207Ser)
c.2908C>A (p.Arg970Ser)
c.3597+620C>A (n.3597+620C>A)
c.3547+1159C>A (n.3547+1159C>A)
c.2845C>A (p.Arg949Ser)
c.2812C>A (p.Arg938Ser)
c.3025C>A (p.Arg1009Ser)
 gnomAD v4
Xg.53235164T>ACA516416211IQSEC2c.3681A>T (p.Pro1227=)
c.1453+619A>T
c.962+619A>T
c.316+1158A>T (n.316+1158A>T)
c.514+1158A>T (n.514+1158A>T)
n.502A>T
c.*7A>T (n.*7A>T)
c.3522A>T (p.Pro1174=)
c.3492A>T (p.Pro1164=)
c.3618A>T (p.Pro1206=)
c.2907A>T (p.Pro969=)
c.3597+619A>T (n.3597+619A>T)
c.3547+1158A>T (n.3547+1158A>T)
c.2844A>T (p.Pro948=)
c.2811A>T (p.Pro937=)
c.3024A>T (p.Pro1008=)
Xg.53235164T>CCA516416212IQSEC2c.3681A>G (p.Pro1227=)
c.1453+619A>G
c.962+619A>G
c.316+1158A>G (n.316+1158A>G)
c.514+1158A>G (n.514+1158A>G)
n.502A>G
c.*7A>G (n.*7A>G)
c.3522A>G (p.Pro1174=)
c.3492A>G (p.Pro1164=)
c.3618A>G (p.Pro1206=)
c.2907A>G (p.Pro969=)
c.3597+619A>G (n.3597+619A>G)
c.3547+1158A>G (n.3547+1158A>G)
c.2844A>G (p.Pro948=)
c.2811A>G (p.Pro937=)
c.3024A>G (p.Pro1008=)
 gnomAD v4
Xg.53235164T>GCA516416215IQSEC2c.3681A>C (p.Pro1227=)
c.1453+619A>C
c.962+619A>C
c.316+1158A>C (n.316+1158A>C)
c.514+1158A>C (n.514+1158A>C)
n.502A>C
c.*7A>C (n.*7A>C)
c.3522A>C (p.Pro1174=)
c.3492A>C (p.Pro1164=)
c.3618A>C (p.Pro1206=)
c.2907A>C (p.Pro969=)
c.3597+619A>C (n.3597+619A>C)
c.3547+1158A>C (n.3547+1158A>C)
c.2844A>C (p.Pro948=)
c.2811A>C (p.Pro937=)
c.3024A>C (p.Pro1008=)
Xg.53235165G>ACA413142785IQSEC2c.3680C>T (p.Pro1227Leu)
c.1453+618C>T
c.962+618C>T
c.316+1157C>T (n.316+1157C>T)
c.514+1157C>T (n.514+1157C>T)
n.501C>T
c.*6C>T (n.*6C>T)
c.3521C>T (p.Pro1174Leu)
c.3491C>T (p.Pro1164Leu)
c.3617C>T (p.Pro1206Leu)
c.2906C>T (p.Pro969Leu)
c.3597+618C>T (n.3597+618C>T)
c.3547+1157C>T (n.3547+1157C>T)
c.2843C>T (p.Pro948Leu)
c.2810C>T (p.Pro937Leu)
c.3023C>T (p.Pro1008Leu)
Xg.53235165G>CCA413142768IQSEC2c.3680C>G (p.Pro1227Arg)
c.1453+618C>G
c.962+618C>G
c.316+1157C>G (n.316+1157C>G)
c.514+1157C>G (n.514+1157C>G)
n.501C>G
c.*6C>G (n.*6C>G)
c.3521C>G (p.Pro1174Arg)
c.3491C>G (p.Pro1164Arg)
c.3617C>G (p.Pro1206Arg)
c.2906C>G (p.Pro969Arg)
c.3597+618C>G (n.3597+618C>G)
c.3547+1157C>G (n.3547+1157C>G)
c.2843C>G (p.Pro948Arg)
c.2810C>G (p.Pro937Arg)
c.3023C>G (p.Pro1008Arg)
Xg.53235165G>TCA413142771IQSEC2c.3680C>A (p.Pro1227Gln)
c.1453+618C>A
c.962+618C>A
c.316+1157C>A (n.316+1157C>A)
c.514+1157C>A (n.514+1157C>A)
n.501C>A
c.*6C>A (n.*6C>A)
c.3521C>A (p.Pro1174Gln)
c.3491C>A (p.Pro1164Gln)
c.3617C>A (p.Pro1206Gln)
c.2906C>A (p.Pro969Gln)
c.3597+618C>A (n.3597+618C>A)
c.3547+1157C>A (n.3547+1157C>A)
c.2843C>A (p.Pro948Gln)
c.2810C>A (p.Pro937Gln)
c.3023C>A (p.Pro1008Gln)
 gnomAD v4
Xg.53235166delCA2693794670IQSEC2c.3680del (p.Pro1227HisfsTer?)
c.1453+618del
c.962+618del
c.316+1157del (n.316+1157del)
c.514+1157del (n.514+1157del)
n.501del
c.*6del (n.*6del)
c.3521del (p.Pro1174HisfsTer?)
c.3491del (p.Pro1164HisfsTer?)
c.3617del (p.Pro1206HisfsTer?)
c.2906del (p.Pro969HisfsTer?)
c.3597+618del (n.3597+618del)
c.3547+1157del (n.3547+1157del)
c.2843del (p.Pro948HisfsTer?)
c.2810del (p.Pro937HisfsTer?)
c.3023del (p.Pro1008HisfsTer?)
 gnomAD v4
Xg.53235166G>ACA413142792IQSEC2c.3679C>T (p.Pro1227Ser)
c.1453+617C>T
c.962+617C>T
c.316+1156C>T (n.316+1156C>T)
c.514+1156C>T (n.514+1156C>T)
n.500C>T
c.*5C>T (n.*5C>T)
c.3520C>T (p.Pro1174Ser)
c.3490C>T (p.Pro1164Ser)
c.3616C>T (p.Pro1206Ser)
c.2905C>T (p.Pro969Ser)
c.3597+617C>T (n.3597+617C>T)
c.3547+1156C>T (n.3547+1156C>T)
c.2842C>T (p.Pro948Ser)
c.2809C>T (p.Pro937Ser)
c.3022C>T (p.Pro1008Ser)
Xg.53235166G>CCA413142796IQSEC2c.3679C>G (p.Pro1227Ala)
c.1453+617C>G
c.962+617C>G
c.316+1156C>G (n.316+1156C>G)
c.514+1156C>G (n.514+1156C>G)
n.500C>G
c.*5C>G (n.*5C>G)
c.3520C>G (p.Pro1174Ala)
c.3490C>G (p.Pro1164Ala)
c.3616C>G (p.Pro1206Ala)
c.2905C>G (p.Pro969Ala)
c.3597+617C>G (n.3597+617C>G)
c.3547+1156C>G (n.3547+1156C>G)
c.2842C>G (p.Pro948Ala)
c.2809C>G (p.Pro937Ala)
c.3022C>G (p.Pro1008Ala)
Xg.53235166G>TCA413142798IQSEC2c.3679C>A (p.Pro1227Thr)
c.1453+617C>A
c.962+617C>A
c.316+1156C>A (n.316+1156C>A)
c.514+1156C>A (n.514+1156C>A)
n.500C>A
c.*5C>A (n.*5C>A)
c.3520C>A (p.Pro1174Thr)
c.3490C>A (p.Pro1164Thr)
c.3616C>A (p.Pro1206Thr)
c.2905C>A (p.Pro969Thr)
c.3597+617C>A (n.3597+617C>A)
c.3547+1156C>A (n.3547+1156C>A)
c.2842C>A (p.Pro948Thr)
c.2809C>A (p.Pro937Thr)
c.3022C>A (p.Pro1008Thr)
 gnomAD v4
Xg.53235167A>CCA413142812IQSEC2c.3678T>G (p.Ser1226Arg)
c.1453+616T>G
c.962+616T>G
c.316+1155T>G (n.316+1155T>G)
c.514+1155T>G (n.514+1155T>G)
n.499T>G
c.*4T>G (n.*4T>G)
c.3519T>G (p.Ser1173Arg)
c.3489T>G (p.Ser1163Arg)
c.3615T>G (p.Ser1205Arg)
c.2904T>G (p.Ser968Arg)
c.3597+616T>G (n.3597+616T>G)
c.3547+1155T>G (n.3547+1155T>G)
c.2841T>G (p.Ser947Arg)
c.2808T>G (p.Ser936Arg)
c.3021T>G (p.Ser1007Arg)
Xg.53235167A>GCA516416236IQSEC2c.3678T>C (p.Ser1226=)
c.1453+616T>C
c.962+616T>C
c.316+1155T>C (n.316+1155T>C)
c.514+1155T>C (n.514+1155T>C)
n.499T>C
c.*4T>C (n.*4T>C)
c.3519T>C (p.Ser1173=)
c.3489T>C (p.Ser1163=)
c.3615T>C (p.Ser1205=)
c.2904T>C (p.Ser968=)
c.3597+616T>C (n.3597+616T>C)
c.3547+1155T>C (n.3547+1155T>C)
c.2841T>C (p.Ser947=)
c.2808T>C (p.Ser936=)
c.3021T>C (p.Ser1007=)
Xg.53235167A>TCA413142814IQSEC2c.3678T>A (p.Ser1226Arg)
c.1453+616T>A
c.962+616T>A
c.316+1155T>A (n.316+1155T>A)
c.514+1155T>A (n.514+1155T>A)
n.499T>A
c.*4T>A (n.*4T>A)
c.3519T>A (p.Ser1173Arg)
c.3489T>A (p.Ser1163Arg)
c.3615T>A (p.Ser1205Arg)
c.2904T>A (p.Ser968Arg)
c.3597+616T>A (n.3597+616T>A)
c.3547+1155T>A (n.3547+1155T>A)
c.2841T>A (p.Ser947Arg)
c.2808T>A (p.Ser936Arg)
c.3021T>A (p.Ser1007Arg)
Xg.53235168C>ACA413142822IQSEC2c.3677G>T (p.Ser1226Ile)
c.1453+615G>T
c.962+615G>T
c.316+1154G>T (n.316+1154G>T)
c.514+1154G>T (n.514+1154G>T)
n.498G>T
c.*3G>T (n.*3G>T)
c.3518G>T (p.Ser1173Ile)
c.3488G>T (p.Ser1163Ile)
c.3614G>T (p.Ser1205Ile)
c.2903G>T (p.Ser968Ile)
c.3597+615G>T (n.3597+615G>T)
c.3547+1154G>T (n.3547+1154G>T)
c.2840G>T (p.Ser947Ile)
c.2807G>T (p.Ser936Ile)
c.3020G>T (p.Ser1007Ile)
Xg.53235168C>GCA413142825IQSEC2c.3677G>C (p.Ser1226Thr)
c.1453+615G>C
c.962+615G>C
c.316+1154G>C (n.316+1154G>C)
c.514+1154G>C (n.514+1154G>C)
n.498G>C
c.*3G>C (n.*3G>C)
c.3518G>C (p.Ser1173Thr)
c.3488G>C (p.Ser1163Thr)
c.3614G>C (p.Ser1205Thr)
c.2903G>C (p.Ser968Thr)
c.3597+615G>C (n.3597+615G>C)
c.3547+1154G>C (n.3547+1154G>C)
c.2840G>C (p.Ser947Thr)
c.2807G>C (p.Ser936Thr)
c.3020G>C (p.Ser1007Thr)
Xg.53235168C>TCA413142828IQSEC2c.3677G>A (p.Ser1226Asn)
c.1453+615G>A
c.962+615G>A
c.316+1154G>A (n.316+1154G>A)
c.514+1154G>A (n.514+1154G>A)
n.498G>A
c.*3G>A (n.*3G>A)
c.3518G>A (p.Ser1173Asn)
c.3488G>A (p.Ser1163Asn)
c.3614G>A (p.Ser1205Asn)
c.2903G>A (p.Ser968Asn)
c.3597+615G>A (n.3597+615G>A)
c.3547+1154G>A (n.3547+1154G>A)
c.2840G>A (p.Ser947Asn)
c.2807G>A (p.Ser936Asn)
c.3020G>A (p.Ser1007Asn)
Xg.53235169T>ACA413142829IQSEC2c.3676A>T (p.Ser1226Cys)
c.1453+614A>T
c.962+614A>T
c.316+1153A>T (n.316+1153A>T)
c.514+1153A>T (n.514+1153A>T)
n.497A>T
c.*2A>T (n.*2A>T)
c.3517A>T (p.Ser1173Cys)
c.3487A>T (p.Ser1163Cys)
c.3613A>T (p.Ser1205Cys)
c.2902A>T (p.Ser968Cys)
c.3597+614A>T (n.3597+614A>T)
c.3547+1153A>T (n.3547+1153A>T)
c.2839A>T (p.Ser947Cys)
c.2806A>T (p.Ser936Cys)
c.3019A>T (p.Ser1007Cys)
Xg.53235169T>CCA413142830IQSEC2c.3676A>G (p.Ser1226Gly)
c.1453+614A>G
c.962+614A>G
c.316+1153A>G (n.316+1153A>G)
c.514+1153A>G (n.514+1153A>G)
n.497A>G
c.*2A>G (n.*2A>G)
c.3517A>G (p.Ser1173Gly)
c.3487A>G (p.Ser1163Gly)
c.3613A>G (p.Ser1205Gly)
c.2902A>G (p.Ser968Gly)
c.3597+614A>G (n.3597+614A>G)
c.3547+1153A>G (n.3547+1153A>G)
c.2839A>G (p.Ser947Gly)
c.2806A>G (p.Ser936Gly)
c.3019A>G (p.Ser1007Gly)
 gnomAD v4
Xg.53235169T>GCA413142831IQSEC2c.3676A>C (p.Ser1226Arg)
c.1453+614A>C
c.962+614A>C
c.316+1153A>C (n.316+1153A>C)
c.514+1153A>C (n.514+1153A>C)
n.497A>C
c.*2A>C (n.*2A>C)
c.3517A>C (p.Ser1173Arg)
c.3487A>C (p.Ser1163Arg)
c.3613A>C (p.Ser1205Arg)
c.2902A>C (p.Ser968Arg)
c.3597+614A>C (n.3597+614A>C)
c.3547+1153A>C (n.3547+1153A>C)
c.2839A>C (p.Ser947Arg)
c.2806A>C (p.Ser936Arg)
c.3019A>C (p.Ser1007Arg)
Xg.53235170G>ACA516416254IQSEC2c.3675C>T (p.Ser1225=)
c.1453+613C>T
c.962+613C>T
c.316+1152C>T (n.316+1152C>T)
c.514+1152C>T (n.514+1152C>T)
n.496C>T
c.*1C>T (n.*1C>T)
c.3516C>T (p.Ser1172=)
c.3486C>T (p.Ser1162=)
c.3612C>T (p.Ser1204=)
c.2901C>T (p.Ser967=)
c.3597+613C>T (n.3597+613C>T)
c.3547+1152C>T (n.3547+1152C>T)
c.2838C>T (p.Ser946=)
c.2805C>T (p.Ser935=)
c.3018C>T (p.Ser1006=)
Xg.53235170G>CCA413142833IQSEC2c.3675C>G (p.Ser1225Arg)
c.1453+613C>G
c.962+613C>G
c.316+1152C>G (n.316+1152C>G)
c.514+1152C>G (n.514+1152C>G)
n.496C>G
c.*1C>G (n.*1C>G)
c.3516C>G (p.Ser1172Arg)
c.3486C>G (p.Ser1162Arg)
c.3612C>G (p.Ser1204Arg)
c.2901C>G (p.Ser967Arg)
c.3597+613C>G (n.3597+613C>G)
c.3547+1152C>G (n.3547+1152C>G)
c.2838C>G (p.Ser946Arg)
c.2805C>G (p.Ser935Arg)
c.3018C>G (p.Ser1006Arg)
Xg.53235170G>TCA413142840IQSEC2c.3675C>A (p.Ser1225Arg)
c.1453+613C>A
c.962+613C>A
c.316+1152C>A (n.316+1152C>A)
c.514+1152C>A (n.514+1152C>A)
n.496C>A
c.*1C>A (n.*1C>A)
c.3516C>A (p.Ser1172Arg)
c.3486C>A (p.Ser1162Arg)
c.3612C>A (p.Ser1204Arg)
c.2901C>A (p.Ser967Arg)
c.3597+613C>A (n.3597+613C>A)
c.3547+1152C>A (n.3547+1152C>A)
c.2838C>A (p.Ser946Arg)
c.2805C>A (p.Ser935Arg)
c.3018C>A (p.Ser1006Arg)
 gnomAD v4
Xg.53235171C>ACA413142846IQSEC2c.3674G>T (p.Ser1225Ile)
c.1453+612G>T
c.962+612G>T
c.316+1151G>T (n.316+1151G>T)
c.514+1151G>T (n.514+1151G>T)
n.495G>T
c.3465G>T (p.Ter1155Tyr)
c.3515G>T (p.Ser1172Ile)
c.3485G>T (p.Ser1162Ile)
c.2850G>T (p.Ter950Tyr)
c.3611G>T (p.Ser1204Ile)
c.2900G>T (p.Ser967Ile)
c.3597+612G>T (n.3597+612G>T)
c.3547+1151G>T (n.3547+1151G>T)
c.3561G>T (p.Ter1187Tyr)
c.2837G>T (p.Ser946Ile)
c.2804G>T (p.Ser935Ile)
c.3017G>T (p.Ser1006Ile)
Xg.53235171C>GCA413142849IQSEC2c.3674G>C (p.Ser1225Thr)
c.1453+612G>C
c.962+612G>C
c.316+1151G>C (n.316+1151G>C)
c.514+1151G>C (n.514+1151G>C)
n.495G>C
c.3465G>C (p.Ter1155Tyr)
c.3515G>C (p.Ser1172Thr)
c.3485G>C (p.Ser1162Thr)
c.2850G>C (p.Ter950Tyr)
c.3611G>C (p.Ser1204Thr)
c.2900G>C (p.Ser967Thr)
c.3597+612G>C (n.3597+612G>C)
c.3547+1151G>C (n.3547+1151G>C)
c.3561G>C (p.Ter1187Tyr)
c.2837G>C (p.Ser946Thr)
c.2804G>C (p.Ser935Thr)
c.3017G>C (p.Ser1006Thr)
Xg.53235171C>TCA413142854IQSEC2c.3674G>A (p.Ser1225Asn)
c.1453+612G>A
c.962+612G>A
c.316+1151G>A (n.316+1151G>A)
c.514+1151G>A (n.514+1151G>A)
n.495G>A
c.3465G>A (p.Ter1155=)
c.3515G>A (p.Ser1172Asn)
c.3485G>A (p.Ser1162Asn)
c.2850G>A (p.Ter950=)
c.3611G>A (p.Ser1204Asn)
c.2900G>A (p.Ser967Asn)
c.3597+612G>A (n.3597+612G>A)
c.3547+1151G>A (n.3547+1151G>A)
c.3561G>A (p.Ter1187=)
c.2837G>A (p.Ser946Asn)
c.2804G>A (p.Ser935Asn)
c.3017G>A (p.Ser1006Asn)
 gnomAD v4
Xg.53235171dupCA2499226780IQSEC2c.3674dup (p.Ser1225ArgfsTer?)
c.1453+612dup
c.962+612dup
c.316+1151dup (n.316+1151dup)
c.514+1151dup (n.514+1151dup)
n.495dup
c.3465dup (n.3465dup)
c.3515dup (p.Ser1172ArgfsTer?)
c.3485dup (p.Ser1162ArgfsTer?)
c.2850dup (n.2850dup)
c.3611dup (p.Ser1204ArgfsTer?)
c.2900dup (p.Ser967ArgfsTer?)
c.3597+612dup (n.3597+612dup)
c.3547+1151dup (n.3547+1151dup)
c.3561dup (n.3561dup)
c.2837dup (p.Ser946ArgfsTer?)
c.2804dup (p.Ser935ArgfsTer?)
c.3017dup (p.Ser1006ArgfsTer?)
 ClinVar dbSNP
Xg.53235172T>ACA413142857IQSEC2c.3673A>T (p.Ser1225Cys)
c.1453+611A>T
c.962+611A>T
c.316+1150A>T (n.316+1150A>T)
c.514+1150A>T (n.514+1150A>T)
n.494A>T
c.3464A>T (p.Ter1155Leu)
c.3514A>T (p.Ser1172Cys)
c.3484A>T (p.Ser1162Cys)
c.2849A>T (p.Ter950Leu)
c.3610A>T (p.Ser1204Cys)
c.2899A>T (p.Ser967Cys)
c.3597+611A>T (n.3597+611A>T)
c.3547+1150A>T (n.3547+1150A>T)
c.3560A>T (p.Ter1187Leu)
c.2836A>T (p.Ser946Cys)
c.2803A>T (p.Ser935Cys)
c.3016A>T (p.Ser1006Cys)
Xg.53235172T>CCA413142861IQSEC2c.3673A>G (p.Ser1225Gly)
c.1453+611A>G
c.962+611A>G
c.316+1150A>G (n.316+1150A>G)
c.514+1150A>G (n.514+1150A>G)
n.494A>G
c.3464A>G (p.Ter1155Trp)
c.3514A>G (p.Ser1172Gly)
c.3484A>G (p.Ser1162Gly)
c.2849A>G (p.Ter950Trp)
c.3610A>G (p.Ser1204Gly)
c.2899A>G (p.Ser967Gly)
c.3597+611A>G (n.3597+611A>G)
c.3547+1150A>G (n.3547+1150A>G)
c.3560A>G (p.Ter1187Trp)
c.2836A>G (p.Ser946Gly)
c.2803A>G (p.Ser935Gly)
c.3016A>G (p.Ser1006Gly)
Xg.53235172T>GCA413142862IQSEC2c.3673A>C (p.Ser1225Arg)
c.1453+611A>C
c.962+611A>C
c.316+1150A>C (n.316+1150A>C)
c.514+1150A>C (n.514+1150A>C)
n.494A>C
c.3464A>C (p.Ter1155Ser)
c.3514A>C (p.Ser1172Arg)
c.3484A>C (p.Ser1162Arg)
c.2849A>C (p.Ter950Ser)
c.3610A>C (p.Ser1204Arg)
c.2899A>C (p.Ser967Arg)
c.3597+611A>C (n.3597+611A>C)
c.3547+1150A>C (n.3547+1150A>C)
c.3560A>C (p.Ter1187Ser)
c.2836A>C (p.Ser946Arg)
c.2803A>C (p.Ser935Arg)
c.3016A>C (p.Ser1006Arg)
Xg.53235173A>CCA413142863IQSEC2c.3672T>G (p.Ile1224Met)
c.1453+610T>G
c.962+610T>G
c.316+1149T>G (n.316+1149T>G)
c.514+1149T>G (n.514+1149T>G)
n.493T>G
c.3463T>G (p.Ter1155Glu)
c.3513T>G (p.Ile1171Met)
c.3483T>G (p.Ile1161Met)
c.2848T>G (p.Ter950Glu)
c.3609T>G (p.Ile1203Met)
c.2898T>G (p.Ile966Met)
c.3597+610T>G (n.3597+610T>G)
c.3547+1149T>G (n.3547+1149T>G)
c.3559T>G (p.Ter1187Glu)
c.2835T>G (p.Ile945Met)
c.2802T>G (p.Ile934Met)
c.3015T>G (p.Ile1005Met)
Xg.53235173A>GCA413142866IQSEC2c.3672T>C (p.Ile1224=)
c.1453+610T>C
c.962+610T>C
c.316+1149T>C (n.316+1149T>C)
c.514+1149T>C (n.514+1149T>C)
n.493T>C
c.3463T>C (p.Ter1155Gln)
c.3513T>C (p.Ile1171=)
c.3483T>C (p.Ile1161=)
c.2848T>C (p.Ter950Gln)
c.3609T>C (p.Ile1203=)
c.2898T>C (p.Ile966=)
c.3597+610T>C (n.3597+610T>C)
c.3547+1149T>C (n.3547+1149T>C)
c.3559T>C (p.Ter1187Gln)
c.2835T>C (p.Ile945=)
c.2802T>C (p.Ile934=)
c.3015T>C (p.Ile1005=)
Xg.53235173A>TCA413142877IQSEC2c.3672T>A (p.Ile1224=)
c.1453+610T>A
c.962+610T>A
c.316+1149T>A (n.316+1149T>A)
c.514+1149T>A (n.514+1149T>A)
n.493T>A
c.3463T>A (p.Ter1155Lys)
c.3513T>A (p.Ile1171=)
c.3483T>A (p.Ile1161=)
c.2848T>A (p.Ter950Lys)
c.3609T>A (p.Ile1203=)
c.2898T>A (p.Ile966=)
c.3597+610T>A (n.3597+610T>A)
c.3547+1149T>A (n.3547+1149T>A)
c.3559T>A (p.Ter1187Lys)
c.2835T>A (p.Ile945=)
c.2802T>A (p.Ile934=)
c.3015T>A (p.Ile1005=)
Xg.53235174_53235181dupCA2573332596IQSEC2c.3665_3672dup (p.Ser1225LeufsTer?)
c.1453+603_1453+610dup
c.962+603_962+610dup
c.316+1142_316+1149dup (n.316+1142_316+1149dup)
c.514+1142_514+1149dup (n.514+1142_514+1149dup)
n.486_493dup
c.3456_3463dup (p.Ter1155SerextTer?)
c.3506_3513dup (p.Ser1172LeufsTer?)
c.3476_3483dup (p.Ser1162LeufsTer?)
c.2841_2848dup (p.Ter950SerextTer?)
c.3602_3609dup (p.Ser1204LeufsTer?)
c.2891_2898dup (p.Ser967LeufsTer?)
c.3597+603_3597+610dup (n.3597+603_3597+610dup)
c.3547+1142_3547+1149dup (n.3547+1142_3547+1149dup)
c.3552_3559dup (p.Ter1187SerextTer?)
c.2828_2835dup (p.Ser946LeufsTer?)
c.2795_2802dup (p.Ser935LeufsTer?)
c.3008_3015dup (p.Ser1006LeufsTer?)
Xg.53235174A>CCA413142882IQSEC2c.3671T>G (p.Ile1224Ser)
c.1453+609T>G
c.962+609T>G
c.316+1148T>G (n.316+1148T>G)
c.514+1148T>G (n.514+1148T>G)
n.492T>G
c.3462T>G (p.Tyr1154Ter)
c.3512T>G (p.Ile1171Ser)
c.3482T>G (p.Ile1161Ser)
c.2847T>G (p.Tyr949Ter)
c.3608T>G (p.Ile1203Ser)
c.2897T>G (p.Ile966Ser)
c.3597+609T>G (n.3597+609T>G)
c.3547+1148T>G (n.3547+1148T>G)
c.3558T>G (p.Tyr1186Ter)
c.2834T>G (p.Ile945Ser)
c.2801T>G (p.Ile934Ser)
c.3014T>G (p.Ile1005Ser)
Xg.53235174A>GCA413142886IQSEC2c.3671T>C (p.Ile1224Thr)
c.1453+609T>C
c.962+609T>C
c.316+1148T>C (n.316+1148T>C)
c.514+1148T>C (n.514+1148T>C)
n.492T>C
c.3462T>C (p.Tyr1154=)
c.3512T>C (p.Ile1171Thr)
c.3482T>C (p.Ile1161Thr)
c.2847T>C (p.Tyr949=)
c.3608T>C (p.Ile1203Thr)
c.2897T>C (p.Ile966Thr)
c.3597+609T>C (n.3597+609T>C)
c.3547+1148T>C (n.3547+1148T>C)
c.3558T>C (p.Tyr1186=)
c.2834T>C (p.Ile945Thr)
c.2801T>C (p.Ile934Thr)
c.3014T>C (p.Ile1005Thr)
Xg.53235174A>TCA413142891IQSEC2c.3671T>A (p.Ile1224Asn)
c.1453+609T>A
c.962+609T>A
c.316+1148T>A (n.316+1148T>A)
c.514+1148T>A (n.514+1148T>A)
n.492T>A
c.3462T>A (p.Tyr1154Ter)
c.3512T>A (p.Ile1171Asn)
c.3482T>A (p.Ile1161Asn)
c.2847T>A (p.Tyr949Ter)
c.3608T>A (p.Ile1203Asn)
c.2897T>A (p.Ile966Asn)
c.3597+609T>A (n.3597+609T>A)
c.3547+1148T>A (n.3547+1148T>A)
c.3558T>A (p.Tyr1186Ter)
c.2834T>A (p.Ile945Asn)
c.2801T>A (p.Ile934Asn)
c.3014T>A (p.Ile1005Asn)
Xg.53235175T>ACA413142916IQSEC2c.3670A>T (p.Ile1224Phe)
c.1453+608A>T
c.962+608A>T
c.316+1147A>T (n.316+1147A>T)
c.514+1147A>T (n.514+1147A>T)
n.491A>T
c.3461A>T (p.Tyr1154Phe)
c.3511A>T (p.Ile1171Phe)
c.3481A>T (p.Ile1161Phe)
c.2846A>T (p.Tyr949Phe)
c.3607A>T (p.Ile1203Phe)
c.2896A>T (p.Ile966Phe)
c.3597+608A>T (n.3597+608A>T)
c.3547+1147A>T (n.3547+1147A>T)
c.3557A>T (p.Tyr1186Phe)
c.2833A>T (p.Ile945Phe)
c.2800A>T (p.Ile934Phe)
c.3013A>T (p.Ile1005Phe)
Xg.53235175T>CCA413142911IQSEC2c.3670A>G (p.Ile1224Val)
c.1453+608A>G
c.962+608A>G
c.316+1147A>G (n.316+1147A>G)
c.514+1147A>G (n.514+1147A>G)
n.491A>G
c.3461A>G (p.Tyr1154Cys)
c.3511A>G (p.Ile1171Val)
c.3481A>G (p.Ile1161Val)
c.2846A>G (p.Tyr949Cys)
c.3607A>G (p.Ile1203Val)
c.2896A>G (p.Ile966Val)
c.3597+608A>G (n.3597+608A>G)
c.3547+1147A>G (n.3547+1147A>G)
c.3557A>G (p.Tyr1186Cys)
c.2833A>G (p.Ile945Val)
c.2800A>G (p.Ile934Val)
c.3013A>G (p.Ile1005Val)
 gnomAD v4
Xg.53235175T>GCA413142897IQSEC2c.3670A>C (p.Ile1224Leu)
c.1453+608A>C
c.962+608A>C
c.316+1147A>C (n.316+1147A>C)
c.514+1147A>C (n.514+1147A>C)
n.491A>C
c.3461A>C (p.Tyr1154Ser)
c.3511A>C (p.Ile1171Leu)
c.3481A>C (p.Ile1161Leu)
c.2846A>C (p.Tyr949Ser)
c.3607A>C (p.Ile1203Leu)
c.2896A>C (p.Ile966Leu)
c.3597+608A>C (n.3597+608A>C)
c.3547+1147A>C (n.3547+1147A>C)
c.3557A>C (p.Tyr1186Ser)
c.2833A>C (p.Ile945Leu)
c.2800A>C (p.Ile934Leu)
c.3013A>C (p.Ile1005Leu)
Xg.53235175_53235178delinsTAACCA2429770717IQSEC2c.3667_3670delinsGTTA (p.Val1223=)
c.1453+605_1453+608delinsGTTA
c.962+605_962+608delinsGTTA
c.316+1144_316+1147delinsGTTA (n.316+1144_316+1147delinsGTTA)
c.514+1144_514+1147delinsGTTA (n.514+1144_514+1147delinsGTTA)
n.488_491delinsGTTA
c.3458_3461delinsGTTA (p.Cys1153=)
c.3508_3511delinsGTTA (p.Val1170=)
c.3478_3481delinsGTTA (p.Val1160=)
c.2843_2846delinsGTTA (p.Cys948=)
c.3604_3607delinsGTTA (p.Val1202=)
c.2893_2896delinsGTTA (p.Val965=)
c.3597+605_3597+608delinsGTTA (n.3597+605_3597+608delinsGTTA)
c.3547+1144_3547+1147delinsGTTA (n.3547+1144_3547+1147delinsGTTA)
c.3554_3557delinsGTTA (p.Cys1185=)
c.2830_2833delinsGTTA (p.Val944=)
c.2797_2800delinsGTTA (p.Val933=)
c.3010_3013delinsGTTA (p.Val1004=)
Xg.53235176A>CCA413142921IQSEC2c.3669T>G (p.Val1223=)
c.1453+607T>G
c.962+607T>G
c.316+1146T>G (n.316+1146T>G)
c.514+1146T>G (n.514+1146T>G)
n.490T>G
c.3460T>G (p.Tyr1154Asp)
c.3510T>G (p.Val1170=)
c.3480T>G (p.Val1160=)
c.2845T>G (p.Tyr949Asp)
c.3606T>G (p.Val1202=)
c.2895T>G (p.Val965=)
c.3597+607T>G (n.3597+607T>G)
c.3547+1146T>G (n.3547+1146T>G)
c.3556T>G (p.Tyr1186Asp)
c.2832T>G (p.Val944=)
c.2799T>G (p.Val933=)
c.3012T>G (p.Val1004=)
Xg.53235176A>GCA413142924IQSEC2c.3669T>C (p.Val1223=)
c.1453+607T>C
c.962+607T>C
c.316+1146T>C (n.316+1146T>C)
c.514+1146T>C (n.514+1146T>C)
n.490T>C
c.3460T>C (p.Tyr1154His)
c.3510T>C (p.Val1170=)
c.3480T>C (p.Val1160=)
c.2845T>C (p.Tyr949His)
c.3606T>C (p.Val1202=)
c.2895T>C (p.Val965=)
c.3597+607T>C (n.3597+607T>C)
c.3547+1146T>C (n.3547+1146T>C)
c.3556T>C (p.Tyr1186His)
c.2832T>C (p.Val944=)
c.2799T>C (p.Val933=)
c.3012T>C (p.Val1004=)
Xg.53235176A>TCA413142928IQSEC2c.3669T>A (p.Val1223=)
c.1453+607T>A
c.962+607T>A
c.316+1146T>A (n.316+1146T>A)
c.514+1146T>A (n.514+1146T>A)
n.490T>A
c.3460T>A (p.Tyr1154Asn)
c.3510T>A (p.Val1170=)
c.3480T>A (p.Val1160=)
c.2845T>A (p.Tyr949Asn)
c.3606T>A (p.Val1202=)
c.2895T>A (p.Val965=)
c.3597+607T>A (n.3597+607T>A)
c.3547+1146T>A (n.3547+1146T>A)
c.3556T>A (p.Tyr1186Asn)
c.2832T>A (p.Val944=)
c.2799T>A (p.Val933=)
c.3012T>A (p.Val1004=)
Xg.53235177_53235179delCA641547551IQSEC2c.3667_3669del (p.Val1223del)
c.1453+605_1453+607del
c.962+605_962+607del
c.316+1144_316+1146del (n.316+1144_316+1146del)
c.514+1144_514+1146del (n.514+1144_514+1146del)
n.488_490del
c.3458_3460del (p.Cys1153del)
c.3508_3510del (p.Val1170del)
c.3478_3480del (p.Val1160del)
c.2843_2845del (p.Cys948del)
c.3604_3606del (p.Val1202del)
c.2893_2895del (p.Val965del)
c.3597+605_3597+607del (n.3597+605_3597+607del)
c.3547+1144_3547+1146del (n.3547+1144_3547+1146del)
c.3554_3556del (p.Cys1185del)
c.2830_2832del (p.Val944del)
c.2797_2799del (p.Val933del)
c.3010_3012del (p.Val1004del)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235177A>CCA413142932IQSEC2c.3668T>G (p.Val1223Gly)
c.1453+606T>G
c.962+606T>G
c.316+1145T>G (n.316+1145T>G)
c.514+1145T>G (n.514+1145T>G)
n.489T>G
c.3459T>G (p.Cys1153Trp)
c.3509T>G (p.Val1170Gly)
c.3479T>G (p.Val1160Gly)
c.2844T>G (p.Cys948Trp)
c.3605T>G (p.Val1202Gly)
c.2894T>G (p.Val965Gly)
c.3597+606T>G (n.3597+606T>G)
c.3547+1145T>G (n.3547+1145T>G)
c.3555T>G (p.Cys1185Trp)
c.2831T>G (p.Val944Gly)
c.2798T>G (p.Val933Gly)
c.3011T>G (p.Val1004Gly)
Xg.53235177A>GCA413142933IQSEC2c.3668T>C (p.Val1223Ala)
c.1453+606T>C
c.962+606T>C
c.316+1145T>C (n.316+1145T>C)
c.514+1145T>C (n.514+1145T>C)
n.489T>C
c.3459T>C (p.Cys1153=)
c.3509T>C (p.Val1170Ala)
c.3479T>C (p.Val1160Ala)
c.2844T>C (p.Cys948=)
c.3605T>C (p.Val1202Ala)
c.2894T>C (p.Val965Ala)
c.3597+606T>C (n.3597+606T>C)
c.3547+1145T>C (n.3547+1145T>C)
c.3555T>C (p.Cys1185=)
c.2831T>C (p.Val944Ala)
c.2798T>C (p.Val933Ala)
c.3011T>C (p.Val1004Ala)
Xg.53235177A>TCA413142934IQSEC2c.3668T>A (p.Val1223Asp)
c.1453+606T>A
c.962+606T>A
c.316+1145T>A (n.316+1145T>A)
c.514+1145T>A (n.514+1145T>A)
n.489T>A
c.3459T>A (p.Cys1153Ter)
c.3509T>A (p.Val1170Asp)
c.3479T>A (p.Val1160Asp)
c.2844T>A (p.Cys948Ter)
c.3605T>A (p.Val1202Asp)
c.2894T>A (p.Val965Asp)
c.3597+606T>A (n.3597+606T>A)
c.3547+1145T>A (n.3547+1145T>A)
c.3555T>A (p.Cys1185Ter)
c.2831T>A (p.Val944Asp)
c.2798T>A (p.Val933Asp)
c.3011T>A (p.Val1004Asp)
Xg.53235178C>ACA413142937IQSEC2c.3667G>T (p.Val1223Phe)
c.1453+605G>T
c.962+605G>T
c.316+1144G>T (n.316+1144G>T)
c.514+1144G>T (n.514+1144G>T)
n.488G>T
c.3458G>T (p.Cys1153Phe)
c.3508G>T (p.Val1170Phe)
c.3478G>T (p.Val1160Phe)
c.2843G>T (p.Cys948Phe)
c.3604G>T (p.Val1202Phe)
c.2893G>T (p.Val965Phe)
c.3597+605G>T (n.3597+605G>T)
c.3547+1144G>T (n.3547+1144G>T)
c.3554G>T (p.Cys1185Phe)
c.2830G>T (p.Val944Phe)
c.2797G>T (p.Val933Phe)
c.3010G>T (p.Val1004Phe)
 gnomAD v4
Xg.53235178C>GCA413142940IQSEC2c.3667G>C (p.Val1223Leu)
c.1453+605G>C
c.962+605G>C
c.316+1144G>C (n.316+1144G>C)
c.514+1144G>C (n.514+1144G>C)
n.488G>C
c.3458G>C (p.Cys1153Ser)
c.3508G>C (p.Val1170Leu)
c.3478G>C (p.Val1160Leu)
c.2843G>C (p.Cys948Ser)
c.3604G>C (p.Val1202Leu)
c.2893G>C (p.Val965Leu)
c.3597+605G>C (n.3597+605G>C)
c.3547+1144G>C (n.3547+1144G>C)
c.3554G>C (p.Cys1185Ser)
c.2830G>C (p.Val944Leu)
c.2797G>C (p.Val933Leu)
c.3010G>C (p.Val1004Leu)
Xg.53235178C>TCA413142944IQSEC2c.3667G>A (p.Val1223Ile)
c.1453+605G>A
c.962+605G>A
c.316+1144G>A (n.316+1144G>A)
c.514+1144G>A (n.514+1144G>A)
n.488G>A
c.3458G>A (p.Cys1153Tyr)
c.3508G>A (p.Val1170Ile)
c.3478G>A (p.Val1160Ile)
c.2843G>A (p.Cys948Tyr)
c.3604G>A (p.Val1202Ile)
c.2893G>A (p.Val965Ile)
c.3597+605G>A (n.3597+605G>A)
c.3547+1144G>A (n.3547+1144G>A)
c.3554G>A (p.Cys1185Tyr)
c.2830G>A (p.Val944Ile)
c.2797G>A (p.Val933Ile)
c.3010G>A (p.Val1004Ile)
Xg.53235179A>CCA413142949IQSEC2c.3666T>G (p.Ser1222=)
c.1453+604T>G
c.962+604T>G
c.316+1143T>G (n.316+1143T>G)
c.514+1143T>G (n.514+1143T>G)
n.487T>G
c.3457T>G (p.Cys1153Gly)
c.3507T>G (p.Ser1169=)
c.3477T>G (p.Ser1159=)
c.2842T>G (p.Cys948Gly)
c.3603T>G (p.Ser1201=)
c.2892T>G (p.Ser964=)
c.3597+604T>G (n.3597+604T>G)
c.3547+1143T>G (n.3547+1143T>G)
c.3553T>G (p.Cys1185Gly)
c.2829T>G (p.Ser943=)
c.2796T>G (p.Ser932=)
c.3009T>G (p.Ser1003=)
Xg.53235179A>GCA413142952IQSEC2c.3666T>C (p.Ser1222=)
c.1453+604T>C
c.962+604T>C
c.316+1143T>C (n.316+1143T>C)
c.514+1143T>C (n.514+1143T>C)
n.487T>C
c.3457T>C (p.Cys1153Arg)
c.3507T>C (p.Ser1169=)
c.3477T>C (p.Ser1159=)
c.2842T>C (p.Cys948Arg)
c.3603T>C (p.Ser1201=)
c.2892T>C (p.Ser964=)
c.3597+604T>C (n.3597+604T>C)
c.3547+1143T>C (n.3547+1143T>C)
c.3553T>C (p.Cys1185Arg)
c.2829T>C (p.Ser943=)
c.2796T>C (p.Ser932=)
c.3009T>C (p.Ser1003=)
Xg.53235179A>TCA413142957IQSEC2c.3666T>A (p.Ser1222=)
c.1453+604T>A
c.962+604T>A
c.316+1143T>A (n.316+1143T>A)
c.514+1143T>A (n.514+1143T>A)
n.487T>A
c.3457T>A (p.Cys1153Ser)
c.3507T>A (p.Ser1169=)
c.3477T>A (p.Ser1159=)
c.2842T>A (p.Cys948Ser)
c.3603T>A (p.Ser1201=)
c.2892T>A (p.Ser964=)
c.3597+604T>A (n.3597+604T>A)
c.3547+1143T>A (n.3547+1143T>A)
c.3553T>A (p.Cys1185Ser)
c.2829T>A (p.Ser943=)
c.2796T>A (p.Ser932=)
c.3009T>A (p.Ser1003=)
Xg.53235180G>ACA413142973IQSEC2c.3665C>T (p.Ser1222Phe)
c.1453+603C>T
c.962+603C>T
c.316+1142C>T (n.316+1142C>T)
c.514+1142C>T (n.514+1142C>T)
n.486C>T
c.3456C>T (p.Val1152=)
c.3506C>T (p.Ser1169Phe)
c.3476C>T (p.Ser1159Phe)
c.2841C>T (p.Val947=)
c.3602C>T (p.Ser1201Phe)
c.2891C>T (p.Ser964Phe)
c.3597+603C>T (n.3597+603C>T)
c.3547+1142C>T (n.3547+1142C>T)
c.3552C>T (p.Val1184=)
c.2828C>T (p.Ser943Phe)
c.2795C>T (p.Ser932Phe)
c.3008C>T (p.Ser1003Phe)
Xg.53235180G>CCA413142965IQSEC2c.3665C>G (p.Ser1222Cys)
c.1453+603C>G
c.962+603C>G
c.316+1142C>G (n.316+1142C>G)
c.514+1142C>G (n.514+1142C>G)
n.486C>G
c.3456C>G (p.Val1152=)
c.3506C>G (p.Ser1169Cys)
c.3476C>G (p.Ser1159Cys)
c.2841C>G (p.Val947=)
c.3602C>G (p.Ser1201Cys)
c.2891C>G (p.Ser964Cys)
c.3597+603C>G (n.3597+603C>G)
c.3547+1142C>G (n.3547+1142C>G)
c.3552C>G (p.Val1184=)
c.2828C>G (p.Ser943Cys)
c.2795C>G (p.Ser932Cys)
c.3008C>G (p.Ser1003Cys)
Xg.53235180G>TCA413142963IQSEC2c.3665C>A (p.Ser1222Tyr)
c.1453+603C>A
c.962+603C>A
c.316+1142C>A (n.316+1142C>A)
c.514+1142C>A (n.514+1142C>A)
n.486C>A
c.3456C>A (p.Val1152=)
c.3506C>A (p.Ser1169Tyr)
c.3476C>A (p.Ser1159Tyr)
c.2841C>A (p.Val947=)
c.3602C>A (p.Ser1201Tyr)
c.2891C>A (p.Ser964Tyr)
c.3597+603C>A (n.3597+603C>A)
c.3547+1142C>A (n.3547+1142C>A)
c.3552C>A (p.Val1184=)
c.2828C>A (p.Ser943Tyr)
c.2795C>A (p.Ser932Tyr)
c.3008C>A (p.Ser1003Tyr)
 gnomAD v4
Xg.53235181A>CCA413142982IQSEC2c.3664T>G (p.Ser1222Ala)
c.1453+602T>G
c.962+602T>G
c.316+1141T>G (n.316+1141T>G)
c.514+1141T>G (n.514+1141T>G)
n.485T>G
c.3455T>G (p.Val1152Gly)
c.3505T>G (p.Ser1169Ala)
c.3475T>G (p.Ser1159Ala)
c.2840T>G (p.Val947Gly)
c.3601T>G (p.Ser1201Ala)
c.2890T>G (p.Ser964Ala)
c.3597+602T>G (n.3597+602T>G)
c.3547+1141T>G (n.3547+1141T>G)
c.3551T>G (p.Val1184Gly)
c.2827T>G (p.Ser943Ala)
c.2794T>G (p.Ser932Ala)
c.3007T>G (p.Ser1003Ala)
Xg.53235181A>GCA413142988IQSEC2c.3664T>C (p.Ser1222Pro)
c.1453+602T>C
c.962+602T>C
c.316+1141T>C (n.316+1141T>C)
c.514+1141T>C (n.514+1141T>C)
n.485T>C
c.3455T>C (p.Val1152Ala)
c.3505T>C (p.Ser1169Pro)
c.3475T>C (p.Ser1159Pro)
c.2840T>C (p.Val947Ala)
c.3601T>C (p.Ser1201Pro)
c.2890T>C (p.Ser964Pro)
c.3597+602T>C (n.3597+602T>C)
c.3547+1141T>C (n.3547+1141T>C)
c.3551T>C (p.Val1184Ala)
c.2827T>C (p.Ser943Pro)
c.2794T>C (p.Ser932Pro)
c.3007T>C (p.Ser1003Pro)
Xg.53235181A>TCA413142985IQSEC2c.3664T>A (p.Ser1222Thr)
c.1453+602T>A
c.962+602T>A
c.316+1141T>A (n.316+1141T>A)
c.514+1141T>A (n.514+1141T>A)
n.485T>A
c.3455T>A (p.Val1152Asp)
c.3505T>A (p.Ser1169Thr)
c.3475T>A (p.Ser1159Thr)
c.2840T>A (p.Val947Asp)
c.3601T>A (p.Ser1201Thr)
c.2890T>A (p.Ser964Thr)
c.3597+602T>A (n.3597+602T>A)
c.3547+1141T>A (n.3547+1141T>A)
c.3551T>A (p.Val1184Asp)
c.2827T>A (p.Ser943Thr)
c.2794T>A (p.Ser932Thr)
c.3007T>A (p.Ser1003Thr)
Xg.53235182C>ACA413142994IQSEC2c.3663G>T (p.Gly1221=)
c.1453+601G>T
c.962+601G>T
c.316+1140G>T (n.316+1140G>T)
c.514+1140G>T (n.514+1140G>T)
n.484G>T
c.3454G>T (p.Val1152Phe)
c.3504G>T (p.Gly1168=)
c.3474G>T (p.Gly1158=)
c.2839G>T (p.Val947Phe)
c.3600G>T (p.Gly1200=)
c.2889G>T (p.Gly963=)
c.3597+601G>T (n.3597+601G>T)
c.3547+1140G>T (n.3547+1140G>T)
c.3550G>T (p.Val1184Phe)
c.2826G>T (p.Gly942=)
c.2793G>T (p.Gly931=)
c.3006G>T (p.Gly1002=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53235182C=CA2429770718IQSEC2c.3663G= (p.Gly1221=)
c.1453+601G=
c.962+601G=
c.316+1140G= (n.316+1140G=)
c.514+1140G= (n.514+1140G=)
n.484G=
c.3454G= (p.Val1152=)
c.3504G= (p.Gly1168=)
c.3474G= (p.Gly1158=)
c.2839G= (p.Val947=)
c.3600G= (p.Gly1200=)
c.2889G= (p.Gly963=)
c.3597+601G= (n.3597+601G=)
c.3547+1140G= (n.3547+1140G=)
c.3550G= (p.Val1184=)
c.2826G= (p.Gly942=)
c.2793G= (p.Gly931=)
c.3006G= (p.Gly1002=)
Xg.53235182C>GCA413142997IQSEC2c.3663G>C (p.Gly1221=)
c.1453+601G>C
c.962+601G>C
c.316+1140G>C (n.316+1140G>C)
c.514+1140G>C (n.514+1140G>C)
n.484G>C
c.3454G>C (p.Val1152Leu)
c.3504G>C (p.Gly1168=)
c.3474G>C (p.Gly1158=)
c.2839G>C (p.Val947Leu)
c.3600G>C (p.Gly1200=)
c.2889G>C (p.Gly963=)
c.3597+601G>C (n.3597+601G>C)
c.3547+1140G>C (n.3547+1140G>C)
c.3550G>C (p.Val1184Leu)
c.2826G>C (p.Gly942=)
c.2793G>C (p.Gly931=)
c.3006G>C (p.Gly1002=)
Xg.53235182C>TCA413143010IQSEC2c.3663G>A (p.Gly1221=)
c.1453+601G>A
c.962+601G>A
c.316+1140G>A (n.316+1140G>A)
c.514+1140G>A (n.514+1140G>A)
n.484G>A
c.3454G>A (p.Val1152Ile)
c.3504G>A (p.Gly1168=)
c.3474G>A (p.Gly1158=)
c.2839G>A (p.Val947Ile)
c.3600G>A (p.Gly1200=)
c.2889G>A (p.Gly963=)
c.3597+601G>A (n.3597+601G>A)
c.3547+1140G>A (n.3547+1140G>A)
c.3550G>A (p.Val1184Ile)
c.2826G>A (p.Gly942=)
c.2793G>A (p.Gly931=)
c.3006G>A (p.Gly1002=)
Xg.53235183C>ACA413143015IQSEC2c.3662G>T (p.Gly1221Val)
c.1453+600G>T
c.962+600G>T
c.316+1139G>T (n.316+1139G>T)
c.514+1139G>T (n.514+1139G>T)
n.483G>T
c.3453G>T (p.Gly1151=)
c.3503G>T (p.Gly1168Val)
c.3473G>T (p.Gly1158Val)
c.2838G>T (p.Gly946=)
c.3599G>T (p.Gly1200Val)
c.2888G>T (p.Gly963Val)
c.3597+600G>T (n.3597+600G>T)
c.3547+1139G>T (n.3547+1139G>T)
c.3549G>T (p.Gly1183=)
c.2825G>T (p.Gly942Val)
c.2792G>T (p.Gly931Val)
c.3005G>T (p.Gly1002Val)
 gnomAD v4
Xg.53235183C>GCA413143017IQSEC2c.3662G>C (p.Gly1221Ala)
c.1453+600G>C
c.962+600G>C
c.316+1139G>C (n.316+1139G>C)
c.514+1139G>C (n.514+1139G>C)
n.483G>C
c.3453G>C (p.Gly1151=)
c.3503G>C (p.Gly1168Ala)
c.3473G>C (p.Gly1158Ala)
c.2838G>C (p.Gly946=)
c.3599G>C (p.Gly1200Ala)
c.2888G>C (p.Gly963Ala)
c.3597+600G>C (n.3597+600G>C)
c.3547+1139G>C (n.3547+1139G>C)
c.3549G>C (p.Gly1183=)
c.2825G>C (p.Gly942Ala)
c.2792G>C (p.Gly931Ala)
c.3005G>C (p.Gly1002Ala)
Xg.53235183C>TCA413143020IQSEC2c.3662G>A (p.Gly1221Glu)
c.1453+600G>A
c.962+600G>A
c.316+1139G>A (n.316+1139G>A)
c.514+1139G>A (n.514+1139G>A)
n.483G>A
c.3453G>A (p.Gly1151=)
c.3503G>A (p.Gly1168Glu)
c.3473G>A (p.Gly1158Glu)
c.2838G>A (p.Gly946=)
c.3599G>A (p.Gly1200Glu)
c.2888G>A (p.Gly963Glu)
c.3597+600G>A (n.3597+600G>A)
c.3547+1139G>A (n.3547+1139G>A)
c.3549G>A (p.Gly1183=)
c.2825G>A (p.Gly942Glu)
c.2792G>A (p.Gly931Glu)
c.3005G>A (p.Gly1002Glu)
Xg.53235184C>ACA413143026IQSEC2c.3661G>T (p.Gly1221Trp)
c.1453+599G>T
c.962+599G>T
c.316+1138G>T (n.316+1138G>T)
c.514+1138G>T (n.514+1138G>T)
n.482G>T
c.3452G>T (p.Gly1151Val)
c.3502G>T (p.Gly1168Trp)
c.3472G>T (p.Gly1158Trp)
c.2837G>T (p.Gly946Val)
c.3598G>T (p.Gly1200Trp)
c.2887G>T (p.Gly963Trp)
c.3597+599G>T (n.3597+599G>T)
c.3547+1138G>T (n.3547+1138G>T)
c.3548G>T (p.Gly1183Val)
c.2824G>T (p.Gly942Trp)
c.2791G>T (p.Gly931Trp)
c.3004G>T (p.Gly1002Trp)
Xg.53235184C>GCA413143031IQSEC2c.3661G>C (p.Gly1221Arg)
c.1453+599G>C
c.962+599G>C
c.316+1138G>C (n.316+1138G>C)
c.514+1138G>C (n.514+1138G>C)
n.482G>C
c.3452G>C (p.Gly1151Ala)
c.3502G>C (p.Gly1168Arg)
c.3472G>C (p.Gly1158Arg)
c.2837G>C (p.Gly946Ala)
c.3598G>C (p.Gly1200Arg)
c.2887G>C (p.Gly963Arg)
c.3597+599G>C (n.3597+599G>C)
c.3547+1138G>C (n.3547+1138G>C)
c.3548G>C (p.Gly1183Ala)
c.2824G>C (p.Gly942Arg)
c.2791G>C (p.Gly931Arg)
c.3004G>C (p.Gly1002Arg)
Xg.53235184C>TCA413143033IQSEC2c.3661G>A (p.Gly1221Arg)
c.1453+599G>A
c.962+599G>A
c.316+1138G>A (n.316+1138G>A)
c.514+1138G>A (n.514+1138G>A)
n.482G>A
c.3452G>A (p.Gly1151Glu)
c.3502G>A (p.Gly1168Arg)
c.3472G>A (p.Gly1158Arg)
c.2837G>A (p.Gly946Glu)
c.3598G>A (p.Gly1200Arg)
c.2887G>A (p.Gly963Arg)
c.3597+599G>A (n.3597+599G>A)
c.3547+1138G>A (n.3547+1138G>A)
c.3548G>A (p.Gly1183Glu)
c.2824G>A (p.Gly942Arg)
c.2791G>A (p.Gly931Arg)
c.3004G>A (p.Gly1002Arg)
Xg.53235185C>ACA413143042IQSEC2c.3661-1G>T (n.3661-1G>T)
c.1453+598G>T
c.962+598G>T
c.316+1137G>T (n.316+1137G>T)
c.514+1137G>T (n.514+1137G>T)
n.482-1G>T
c.3452-1G>T (n.3452-1G>T)
c.3502-1G>T (n.3502-1G>T)
c.3472-1G>T (n.3472-1G>T)
c.2837-1G>T (n.2837-1G>T)
c.3598-1G>T (n.3598-1G>T)
c.2887-1G>T (n.2887-1G>T)
c.3597+598G>T (n.3597+598G>T)
c.3547+1137G>T (n.3547+1137G>T)
c.3548-1G>T (n.3548-1G>T)
c.2824-1G>T (n.2824-1G>T)
c.2791-1G>T (n.2791-1G>T)
c.3004-1G>T (n.3004-1G>T)
 gnomAD v4
Xg.53235185C>GCA413143048IQSEC2c.3661-1G>C (n.3661-1G>C)
c.1453+598G>C
c.962+598G>C
c.316+1137G>C (n.316+1137G>C)
c.514+1137G>C (n.514+1137G>C)
n.482-1G>C
c.3452-1G>C (n.3452-1G>C)
c.3502-1G>C (n.3502-1G>C)
c.3472-1G>C (n.3472-1G>C)
c.2837-1G>C (n.2837-1G>C)
c.3598-1G>C (n.3598-1G>C)
c.2887-1G>C (n.2887-1G>C)
c.3597+598G>C (n.3597+598G>C)
c.3547+1137G>C (n.3547+1137G>C)
c.3548-1G>C (n.3548-1G>C)
c.2824-1G>C (n.2824-1G>C)
c.2791-1G>C (n.2791-1G>C)
c.3004-1G>C (n.3004-1G>C)
Xg.53235185C>TCA413143051IQSEC2c.3661-1G>A (n.3661-1G>A)
c.1453+598G>A
c.962+598G>A
c.316+1137G>A (n.316+1137G>A)
c.514+1137G>A (n.514+1137G>A)
n.482-1G>A
c.3452-1G>A (n.3452-1G>A)
c.3502-1G>A (n.3502-1G>A)
c.3472-1G>A (n.3472-1G>A)
c.2837-1G>A (n.2837-1G>A)
c.3598-1G>A (n.3598-1G>A)
c.2887-1G>A (n.2887-1G>A)
c.3597+598G>A (n.3597+598G>A)
c.3547+1137G>A (n.3547+1137G>A)
c.3548-1G>A (n.3548-1G>A)
c.2824-1G>A (n.2824-1G>A)
c.2791-1G>A (n.2791-1G>A)
c.3004-1G>A (n.3004-1G>A)
Xg.53235185_53235186delinsCTCA2429770719IQSEC2c.3661-2_3661-1delinsAG (n.3661-2_3661-1delinsAG)
c.1453+597_1453+598delinsAG
c.962+597_962+598delinsAG
c.316+1136_316+1137delinsAG (n.316+1136_316+1137delinsAG)
c.514+1136_514+1137delinsAG (n.514+1136_514+1137delinsAG)
n.482-2_482-1delinsAG
c.3452-2_3452-1delinsAG (n.3452-2_3452-1delinsAG)
c.3502-2_3502-1delinsAG (n.3502-2_3502-1delinsAG)
c.3472-2_3472-1delinsAG (n.3472-2_3472-1delinsAG)
c.2837-2_2837-1delinsAG (n.2837-2_2837-1delinsAG)
c.3598-2_3598-1delinsAG (n.3598-2_3598-1delinsAG)
c.2887-2_2887-1delinsAG (n.2887-2_2887-1delinsAG)
c.3597+597_3597+598delinsAG (n.3597+597_3597+598delinsAG)
c.3547+1136_3547+1137delinsAG (n.3547+1136_3547+1137delinsAG)
c.3548-2_3548-1delinsAG (n.3548-2_3548-1delinsAG)
c.2824-2_2824-1delinsAG (n.2824-2_2824-1delinsAG)
c.2791-2_2791-1delinsAG (n.2791-2_2791-1delinsAG)
c.3004-2_3004-1delinsAG (n.3004-2_3004-1delinsAG)
Xg.53235186delCA645369755IQSEC2c.3661-2del (n.3661-2del)
c.1453+597del
c.962+597del
c.316+1136del (n.316+1136del)
c.514+1136del (n.514+1136del)
n.482-2del
c.3452-2del (n.3452-2del)
c.3502-2del (n.3502-2del)
c.3472-2del (n.3472-2del)
c.2837-2del (n.2837-2del)
c.3598-2del (n.3598-2del)
c.2887-2del (n.2887-2del)
c.3597+597del (n.3597+597del)
c.3547+1136del (n.3547+1136del)
c.3548-2del (n.3548-2del)
c.2824-2del (n.2824-2del)
c.2791-2del (n.2791-2del)
c.3004-2del (n.3004-2del)
 ClinVar dbSNP
Xg.53235186T>ACA413143065IQSEC2c.3661-2A>T (n.3661-2A>T)
c.1453+597A>T
c.962+597A>T
c.316+1136A>T (n.316+1136A>T)
c.514+1136A>T (n.514+1136A>T)
n.482-2A>T
c.3452-2A>T (n.3452-2A>T)
c.3502-2A>T (n.3502-2A>T)
c.3472-2A>T (n.3472-2A>T)
c.2837-2A>T (n.2837-2A>T)
c.3598-2A>T (n.3598-2A>T)
c.2887-2A>T (n.2887-2A>T)
c.3597+597A>T (n.3597+597A>T)
c.3547+1136A>T (n.3547+1136A>T)
c.3548-2A>T (n.3548-2A>T)
c.2824-2A>T (n.2824-2A>T)
c.2791-2A>T (n.2791-2A>T)
c.3004-2A>T (n.3004-2A>T)
Xg.53235186T>CCA413143055IQSEC2c.3661-2A>G (n.3661-2A>G)
c.1453+597A>G
c.962+597A>G
c.316+1136A>G (n.316+1136A>G)
c.514+1136A>G (n.514+1136A>G)
n.482-2A>G
c.3452-2A>G (n.3452-2A>G)
c.3502-2A>G (n.3502-2A>G)
c.3472-2A>G (n.3472-2A>G)
c.2837-2A>G (n.2837-2A>G)
c.3598-2A>G (n.3598-2A>G)
c.2887-2A>G (n.2887-2A>G)
c.3597+597A>G (n.3597+597A>G)
c.3547+1136A>G (n.3547+1136A>G)
c.3548-2A>G (n.3548-2A>G)
c.2824-2A>G (n.2824-2A>G)
c.2791-2A>G (n.2791-2A>G)
c.3004-2A>G (n.3004-2A>G)
Xg.53235186T>GCA413143062IQSEC2c.3661-2A>C (n.3661-2A>C)
c.1453+597A>C
c.962+597A>C
c.316+1136A>C (n.316+1136A>C)
c.514+1136A>C (n.514+1136A>C)
n.482-2A>C
c.3452-2A>C (n.3452-2A>C)
c.3502-2A>C (n.3502-2A>C)
c.3472-2A>C (n.3472-2A>C)
c.2837-2A>C (n.2837-2A>C)
c.3598-2A>C (n.3598-2A>C)
c.2887-2A>C (n.2887-2A>C)
c.3597+597A>C (n.3597+597A>C)
c.3547+1136A>C (n.3547+1136A>C)
c.3548-2A>C (n.3548-2A>C)
c.2824-2A>C (n.2824-2A>C)
c.2791-2A>C (n.2791-2A>C)
c.3004-2A>C (n.3004-2A>C)
Xg.53235187G>ACA10419784IQSEC2c.3661-3C>T (n.3661-3C>T)
c.1453+596C>T
c.962+596C>T
c.316+1135C>T (n.316+1135C>T)
c.514+1135C>T (n.514+1135C>T)
n.482-3C>T
c.3452-3C>T (n.3452-3C>T)
c.3502-3C>T (n.3502-3C>T)
c.3472-3C>T (n.3472-3C>T)
c.2837-3C>T (n.2837-3C>T)
c.3598-3C>T (n.3598-3C>T)
c.2887-3C>T (n.2887-3C>T)
c.3597+596C>T (n.3597+596C>T)
c.3547+1135C>T (n.3547+1135C>T)
c.3548-3C>T (n.3548-3C>T)
c.2824-3C>T (n.2824-3C>T)
c.2791-3C>T (n.2791-3C>T)
c.3004-3C>T (n.3004-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53235187G=CA2429770720IQSEC2c.3661-3C= (n.3661-3C=)
c.1453+596C=
c.962+596C=
c.316+1135C= (n.316+1135C=)
c.514+1135C= (n.514+1135C=)
n.482-3C=
c.3452-3C= (n.3452-3C=)
c.3502-3C= (n.3502-3C=)
c.3472-3C= (n.3472-3C=)
c.2837-3C= (n.2837-3C=)
c.3598-3C= (n.3598-3C=)
c.2887-3C= (n.2887-3C=)
c.3597+596C= (n.3597+596C=)
c.3547+1135C= (n.3547+1135C=)
c.3548-3C= (n.3548-3C=)
c.2824-3C= (n.2824-3C=)
c.2791-3C= (n.2791-3C=)
c.3004-3C= (n.3004-3C=)
Xg.53235188G>CCA2693794699IQSEC2c.3661-4C>G (n.3661-4C>G)
c.1453+595C>G
c.962+595C>G
c.316+1134C>G (n.316+1134C>G)
c.514+1134C>G (n.514+1134C>G)
n.482-4C>G
c.3452-4C>G (n.3452-4C>G)
c.3502-4C>G (n.3502-4C>G)
c.3472-4C>G (n.3472-4C>G)
c.2837-4C>G (n.2837-4C>G)
c.3598-4C>G (n.3598-4C>G)
c.2887-4C>G (n.2887-4C>G)
c.3597+595C>G (n.3597+595C>G)
c.3547+1134C>G (n.3547+1134C>G)
c.3548-4C>G (n.3548-4C>G)
c.2824-4C>G (n.2824-4C>G)
c.2791-4C>G (n.2791-4C>G)
c.3004-4C>G (n.3004-4C>G)
 gnomAD v4

Number of alleles fetched